UniProt_Human Res_number Wildtype Mutant PDB ChainID PDB_seq_number Monomer_surface BA_surface Disease_name ACTS_HUMAN 288 D G 1t44 A 281 68 68 Nemaline myopathy type 3 (NEM3) ACTS_HUMAN 294 D V 1t44 A 287 51 51 Congenital myopathy with fiber-type disproportion (CFTD) ACTS_HUMAN 261 E V 1t44 A 254 0 0 Nemaline myopathy type 3 (NEM3) ACTS_HUMAN 17 G R 1t44 A 10 11.4 11.4 Congenital myopathy with excess of thin myofilaments (CM) ACTS_HUMAN 184 G D 1t44 A 177 4.4 4.4 Nemaline myopathy type 3 (NEM3) ACTS_HUMAN 270 G C 1t44 A 263 91.2 91.2 Nemaline myopathy type 3 (NEM3) ACTS_HUMAN 42 H Y 1t44 A 35 122.3 122.3 Nemaline myopathy type 3 (NEM3) ACTS_HUMAN 138 I M 1t44 A 131 16 16 Nemaline myopathy type 3 (NEM3) ACTS_HUMAN 359 I L 1t44 A 352 0 0 Nemaline myopathy type 3 (NEM3) ACTS_HUMAN 223 L P 1t44 A 216 55.7 33 Congenital myopathy with fiber-type disproportion (CFTD) ACTS_HUMAN 96 L P 1t44 A 89 4.4 4.4 Nemaline myopathy type 3 (NEM3) ACTS_HUMAN 134 M V 1t44 A 127 0 0 Nemaline myopathy type 3 (NEM3) ACTS_HUMAN 271 M R 1t44 A 264 29.5 29.5 Nemaline myopathy type 3 (NEM3) ACTS_HUMAN 117 N S 1t44 A 110 13.4 13.4 Nemaline myopathy type 3 (NEM3) ACTS_HUMAN 282 N K 1t44 A 275 45.7 45.7 Nemaline myopathy type 3 (NEM3) ACTS_HUMAN 334 P S 1t44 A 327 13.3 13.3 Congenital myopathy with fiber-type disproportion (CFTD) ACTS_HUMAN 265 Q L 1t44 A 258 32.6 32.6 Nemaline myopathy type 3 (NEM3) ACTS_HUMAN 185 R C 1t44 A 178 28.9 28.9 Nemaline myopathy type 3 (NEM3) ACTS_HUMAN 185 R G 1t44 A 178 28.9 28.9 Nemaline myopathy type 3 (NEM3) ACTS_HUMAN 258 R H 1t44 A 251 20.4 20.4 Nemaline myopathy type 3 (NEM3) ACTS_HUMAN 165 V L 1t44 A 158 0 0 Congenital myopathy with excess of thin myofilaments (CM) ACTS_HUMAN 372 V F 1t44 A 365 0 0 Nemaline myopathy type 3 (NEM3) AXN1_HUMAN 106 L R 1dk8 A 33 0 0 Hepatocellular carcinoma (HCC) B3AT_HUMAN 455 G E 1btt A 21 60 60 Hereditary spherocytosis type 4 (HS4) B3AT_HUMAN 455 G R 1btt A 21 60 60 Hereditary spherocytosis type 4 (HS4) B3AT_HUMAN 834 H P 1bh7 A 32 89.7 89.7 Hereditary spherocytosis type 4 (HS4) B3AT_HUMAN 808 R C 1bh7 A 6 69.5 69.5 Hereditary spherocytosis type 4 (HS4) B3AT_HUMAN 808 R H 1bh7 A 6 69.5 69.5 Hereditary spherocytosis type 4 (HS4) BRAF1_HUMAN 594 D G 3c4c A 151 21.2 21.2 Non-Hodgkin lymphoma (NHL) BRAF1_HUMAN 638 D E 3c4c A 195 1.2 1.2 Cardiofaciocutaneous syndrome (CFC syndrome) BRAF1_HUMAN 501 E G 3c4c A 58 3 3 Cardiofaciocutaneous syndrome (CFC syndrome) BRAF1_HUMAN 501 E K 3c4c A 58 3 3 Cardiofaciocutaneous syndrome (CFC syndrome) BRAF1_HUMAN 586 E K 3c4c A 143 57.8 31.6 Ovarian cancer BRAF1_HUMAN 468 F S 3c4c A 25 21.4 21.4 Cardiofaciocutaneous syndrome (CFC syndrome) BRAF1_HUMAN 595 F L 3c4c A 152 0.2 0.2 Cardiofaciocutaneous syndrome (CFC syndrome) BRAF1_HUMAN 464 G E 3c4c A 21 20.1 20.1 Colorectal cancer (CRC) BRAF1_HUMAN 464 G V 3c4c A 21 20.1 20.1 A colorectal cancer cell line BRAF1_HUMAN 466 G A 3c4c A 23 24.8 24.8 Melanoma BRAF1_HUMAN 466 G E 3c4c A 23 24.8 24.8 Melanoma BRAF1_HUMAN 466 G V 3c4c A 23 24.8 24.8 Lung cancer BRAF1_HUMAN 469 G A 3c4c A 26 4.2 4.2 Non-Hodgkin lymphoma (NHL) BRAF1_HUMAN 469 G E 3c4c A 26 4.2 4.2 Cardiofaciocutaneous syndrome (CFC syndrome) BRAF1_HUMAN 469 G R 3c4c A 26 4.2 4.2 Non-Hodgkin lymphoma (NHL) BRAF1_HUMAN 469 G V 3c4c A 26 4.2 4.2 A colorectal adenocarcinoma sample BRAF1_HUMAN 596 G R 3c4c A 153 5.6 5.6 A colorectal adenocarcinoma sample BRAF1_HUMAN 596 G V 3c4c A 153 5.6 5.6 Cardiofaciocutaneous syndrome (CFC syndrome) BRAF1_HUMAN 463 I S 3c4c A 20 46.6 46.6 Colorectal cancer (CRC) BRAF1_HUMAN 499 K E 3c4c A 56 41.4 41.4 Cardiofaciocutaneous syndrome (CFC syndrome) BRAF1_HUMAN 499 K N 3c4c A 56 41.4 41.4 Cardiofaciocutaneous syndrome (CFC syndrome) BRAF1_HUMAN 601 K E 3c4c A 58 14.4 14.4 Colorectal cancer (CRC) BRAF1_HUMAN 601 K Q 3c4c A 58 14.4 14.4 Cardiofaciocutaneous syndrome (CFC syndrome) BRAF1_HUMAN 485 L F 3c4c A 42 1 1 Cardiofaciocutaneous syndrome (CFC syndrome) BRAF1_HUMAN 525 L P 3c4c A 82 3.3 3.3 Cardiofaciocutaneous syndrome (CFC syndrome) BRAF1_HUMAN 597 L R 3c4c A 154 12.9 12.9 Lung cancer BRAF1_HUMAN 581 N D 3c4c A 138 1 1 Cardiofaciocutaneous syndrome (CFC syndrome) BRAF1_HUMAN 581 N S 3c4c A 138 1 1 A colorectal adenocarcinoma sample BRAF1_HUMAN 709 Q R 3c4c A 266 46.3 46.3 Cardiofaciocutaneous syndrome (CFC syndrome) BRAF1_HUMAN 462 R I 3c4c A 19 55.5 55.5 Colorectal cancer (CRC) BRAF1_HUMAN 467 S A 3c4c A 24 17.7 17.7 Cardiofaciocutaneous syndrome (CFC syndrome) BRAF1_HUMAN 599 T R 3c4c A 156 35.5 35.5 Cardiofaciocutaneous syndrome (CFC syndrome) BRAF1_HUMAN 600 V D 3c4c A 157 60.6 60.6 A melanoma cell line BRAF1_HUMAN 600 V E 3c4c A 157 60.6 60.6 Sarcoma CD45_HUMAN 863 G R 1ygr A 242 0.9 0.9 A breast cancer sample CFAH_HUMAN 915 C S 3gau A 897 0.6 0.6 Hemolytic-uremic syndrome (HUS) CFAH_HUMAN 893 H R 3gau A 875 44.8 44.8 Hemolytic-uremic syndrome (HUS) FA9_HUMAN 53 E A 1nl0 G 7 85.9 85.9 Recessive X-linked hemophilia B (HEMB) FA9_HUMAN 54 E G 1nl0 G 8 54.9 54.9 Recessive X-linked hemophilia B (HEMB) FA9_HUMAN 66 E V 1nl0 G 20 87.3 87.3 Recessive X-linked hemophilia B (HEMB) FA9_HUMAN 67 E K 1nl0 G 21 60.5 60.5 Recessive X-linked hemophilia B (HEMB) FA9_HUMAN 73 E K 1nl0 G 27 89.4 89.4 Recessive X-linked hemophilia B (HEMB) FA9_HUMAN 73 E V 1nl0 G 27 89.4 89.4 Recessive X-linked hemophilia B (HEMB) FA9_HUMAN 79 E D 1nl0 G 33 85 85 Recessive X-linked hemophilia B (HEMB) GLNA_HUMAN 324 R C 2ojw A 343 12.5 6.5 Congenital systemic glutamine deficiency (CSGD) GLNA_HUMAN 341 R C 2ojw A 360 0 0 Congenital systemic glutamine deficiency (CSGD) PK3CA_HUMAN 542 E K 3hhm A 565 59.6 24 Keratosis seborrheic (KERSEB) PK3CA_HUMAN 542 E Q 3hhm A 565 59.6 24 Cancer PK3CA_HUMAN 542 E V 3hhm A 565 59.6 24 Cancer PK3CA_HUMAN 545 E A 3hhm A 568 57 7.4 Cancer PK3CA_HUMAN 545 E G 3hhm A 568 57 7.4 Keratosis seborrheic (KERSEB) PK3CA_HUMAN 545 E K 3hhm A 568 57 7.4 Keratosis seborrheic (KERSEB) PK3CA_HUMAN 106 G V 3hhm A 129 64.3 64.3 Cancer PK3CA_HUMAN 546 Q E 3hhm A 569 78.8 15.8 Cancer PK3CA_HUMAN 546 Q K 3hhm A 569 78.8 15.8 Cancer PK3CA_HUMAN 546 Q P 3hhm A 569 78.8 15.8 Cancer PK3CA_HUMAN 546 Q R 3hhm A 569 78.8 15.8 Cancer PK3CA_HUMAN 38 R H 3hhm A 61 0 0 Cancer PK3CA_HUMAN 88 R Q 3hhm A 101 18.7 18.7 Cancer PYR5_HUMAN 429 G R 2qcf A 209 20.5 12.1 Hereditary orotic aciduria (HOA) PYR5_HUMAN 96 R G 2wns A 91 6.8 6.8 Hereditary orotic aciduria (HOA) PYR5_HUMAN 109 V G 2wns A 104 0.3 0.3 Hereditary orotic aciduria (HOA) RARB_HUMAN 90 V I 1hra A 10 4.1 4.1 A colorectal cancer sample SFRS1_HUMAN 89 P S 1x4a A 96 27.4 27.4 A breast cancer sample STK6_HUMAN 155 S R 3fdn A 33 60.8 20.1 A colorectal adenocarcinoma sample STK6_HUMAN 174 V M 3fdn A 52 19.1 0.1 A metastatic melanoma sample XDH_HUMAN 763 L F 2e1q A 763 0 0 A breast cancer sample XDH_HUMAN 149 R C 2e1q A 149 4.2 4.2 Xanthinuria type 1 (XU1) XDH_HUMAN 791 R G 2e1q A 791 27.3 12.5 A breast cancer sample ZMY10_HUMAN 407 R Q 2d8q A 31 61.5 61.5 Non-small cell lung cancer (NSCLC) 5NT3_HUMAN 137 D V 2jga A 93 30.4 19.3 P5N deficiency 5NT3_HUMAN 280 G R 2vkq A 236 17.6 17.6 P5N deficiency 5NT3_HUMAN 181 L P 2cn1 A 137 6 6 P5N deficiency 5NT3_HUMAN 229 N S 2cn1 A 185 1.9 1.9 P5N deficiency A4_HUMAN 692 A G 2otk C 21 63.3 0 Alzheimer disease type 1 (AD1) A4_HUMAN 694 D N 2lmo L 23 95.5 0 Amyloidosis cerebroarterial Iowa type (AMYLCAIW) A4_HUMAN 693 E G 2lmo L 22 52.5 9.9 Alzheimer disease type 1 (AD1) A4_HUMAN 693 E K 2lmo L 22 52.5 9.9 Amyloidosis cerebroarterial Italian type (AMYLCAIT) A4_HUMAN 693 E Q 2lmo L 22 52.5 9.9 Amyloidosis cerebroarterial Dutch type (AMYLCAD) A4_HUMAN 705 L V 2lmo B 34 68.4 0 Amyloidosis cerebroarterial Italian type (AMYLCAIT) A4_HUMAN 713 A T 3gci P 7 139.9 7.3 Alzheimer disease type 1 (AD1) A4_HUMAN 678 D N 1ze7 A 8 35 35 Alzheimer disease type 1 (AD1) AACT_HUMAN 78 L P 1as4 A 36 20.8 1 Chronic obstructive pulmonary disease (COPD) AACT_HUMAN 252 P A 1as4 A 210 5.9 5.9 Chronic obstructive pulmonary disease (COPD) ABL1_HUMAN 166 R K 2abl A 111 14.3 14.3 A melanoma sample ABL1_HUMAN 47 R G 2fo0 A 24 88.5 88.5 A lung large cell carcinoma sample ACAD8_HUMAN 320 A T 1rx0 A 298 51.8 0 Isobutyryl-CoA dehydrogenase deficiency (IBDD) ACAD8_HUMAN 134 D Y 1rx0 A 112 5.5 5.5 Isobutyryl-CoA dehydrogenase deficiency (IBDD) ACAD8_HUMAN 137 G R 1rx0 D 115 14.8 14.8 Isobutyryl-CoA dehydrogenase deficiency (IBDD) ACAD8_HUMAN 128 M I 1rx0 C 106 1.6 1.6 Isobutyryl-CoA dehydrogenase deficiency (IBDD) ACAD8_HUMAN 152 M T 1rx0 B 130 0.2 0.2 Isobutyryl-CoA dehydrogenase deficiency (IBDD) ACAD8_HUMAN 385 Q R 1rx0 C 363 6.1 1.3 Isobutyryl-CoA dehydrogenase deficiency (IBDD) ACAD8_HUMAN 302 R Q 1rx0 C 280 34.3 19.3 Isobutyryl-CoA dehydrogenase deficiency (IBDD) ACAD8_HUMAN 334 R C 1rx0 A 312 10.7 10.7 Isobutyryl-CoA dehydrogenase deficiency (IBDD) ACAD8_HUMAN 203 V I 1rx0 A 181 0 0 Isobutyryl-CoA dehydrogenase deficiency (IBDD) ACADM_HUMAN 116 C Y 1egc D 91 2.8 2.8 Medium-chain acyl-CoA dehydrogenase deficiency (MCAD deficiency) ACADM_HUMAN 244 C R 1egd C 219 1.3 1.3 Medium-chain acyl-CoA dehydrogenase deficiency (MCAD deficiency) ACADM_HUMAN 195 G R 1egc B 170 0 0 Medium-chain acyl-CoA dehydrogenase deficiency (MCAD deficiency) ACADM_HUMAN 267 G R 1ege A 242 4.3 4.3 Medium-chain acyl-CoA dehydrogenase deficiency (MCAD deficiency) ACADM_HUMAN 310 G R 1egc C 285 73.4 73.1 Medium-chain acyl-CoA dehydrogenase deficiency (MCAD deficiency) ACADM_HUMAN 375 I T 1egd B 350 2.5 2.5 Medium-chain acyl-CoA dehydrogenase deficiency (MCAD deficiency) ACADM_HUMAN 78 I T 1t9g A 53 0.7 0.7 Medium-chain acyl-CoA dehydrogenase deficiency (MCAD deficiency) ACADM_HUMAN 329 K E 1ege A 304 19.5 14.8 Medium-chain acyl-CoA dehydrogenase deficiency (MCAD deficiency) ACADM_HUMAN 149 M I 1egc A 124 0 0 Medium-chain acyl-CoA dehydrogenase deficiency (MCAD deficiency) ACADM_HUMAN 326 M T 1egc D 301 0.2 0.2 Medium-chain acyl-CoA dehydrogenase deficiency (MCAD deficiency) ACADM_HUMAN 132 P R 1egc A 107 0 0 A breast cancer sample ACADM_HUMAN 206 R L 1ege C 181 9.3 9.3 Medium-chain acyl-CoA dehydrogenase deficiency (MCAD deficiency) ACADM_HUMAN 281 R T 1ege C 256 3.4 3.4 Medium-chain acyl-CoA dehydrogenase deficiency (MCAD deficiency) ACADM_HUMAN 53 R C 1egc C 28 32.6 32.6 Medium-chain acyl-CoA dehydrogenase deficiency (MCAD deficiency) ACADM_HUMAN 245 S L 2a1t C 245 2.6 2.6 Medium-chain acyl-CoA dehydrogenase deficiency (MCAD deficiency) ACADM_HUMAN 336 S R 1ege C 311 10.4 0.4 Medium-chain acyl-CoA dehydrogenase deficiency (MCAD deficiency) ACADM_HUMAN 121 T I 1ege B 96 4.1 4.1 Medium-chain acyl-CoA dehydrogenase deficiency (MCAD deficiency) ACADM_HUMAN 193 T A 1egc A 168 17.1 17.1 Medium-chain acyl-CoA dehydrogenase deficiency (MCAD deficiency) ACADM_HUMAN 352 Y C 1t9g B 327 22.7 7.6 Medium-chain acyl-CoA dehydrogenase deficiency (MCAD deficiency) ACADM_HUMAN 67 Y H 1egc B 42 5.9 5.9 Medium-chain acyl-CoA dehydrogenase deficiency (MCAD deficiency) ACADS_HUMAN 192 A V 2vig D 164 9.8 9.8 Short-chain acyl-CoA dehydrogenase deficiency (SCAD deficiency) ACADS_HUMAN 90 G S 2vig D 62 11.7 11.7 Short-chain acyl-CoA dehydrogenase deficiency (SCAD deficiency) ACADS_HUMAN 92 G C 2vig A 64 50.4 50.4 Short-chain acyl-CoA dehydrogenase deficiency (SCAD deficiency) ACADS_HUMAN 107 R C 2vig B 79 12.1 12.1 Short-chain acyl-CoA dehydrogenase deficiency (SCAD deficiency) ACADS_HUMAN 325 R W 2vig B 297 15 15 Short-chain acyl-CoA dehydrogenase deficiency (SCAD deficiency) ACADS_HUMAN 380 R W 2vig A 352 11.8 11.8 Short-chain acyl-CoA dehydrogenase deficiency (SCAD deficiency) ACADS_HUMAN 383 R C 2vig C 355 12.3 2.3 Short-chain acyl-CoA dehydrogenase deficiency (SCAD deficiency) ACADS_HUMAN 46 R W 2vig D 18 15.2 15.2 Short-chain acyl-CoA dehydrogenase deficiency (SCAD deficiency) ACADS_HUMAN 353 S L 2vig B 325 0.1 0.1 Short-chain acyl-CoA dehydrogenase deficiency (SCAD deficiency) ACADS_HUMAN 177 W R 2vig C 149 8.8 8.8 Short-chain acyl-CoA dehydrogenase deficiency (SCAD deficiency) ACADV_HUMAN 213 A P 2uxw A 165 0 0 Very long chain acyl-CoA dehydrogenase deficiency (VLCAD deficiency) ACADV_HUMAN 281 A D 2uxw A 233 0 0 Very long chain acyl-CoA dehydrogenase deficiency (VLCAD deficiency) ACADV_HUMAN 490 A P 2uxw A 442 88.7 88.7 Very long chain acyl-CoA dehydrogenase deficiency (VLCAD deficiency) ACADV_HUMAN 405 D H 3b96 A 337 31.6 31.6 Very long chain acyl-CoA dehydrogenase deficiency (VLCAD deficiency) ACADV_HUMAN 454 D N 2uxw A 406 5.3 5.3 Very long chain acyl-CoA dehydrogenase deficiency (VLCAD deficiency) ACADV_HUMAN 218 E K 3b96 A 150 4.4 3.4 Very long chain acyl-CoA dehydrogenase deficiency (VLCAD deficiency) ACADV_HUMAN 534 E K 2uxw A 486 48.6 48.6 Very long chain acyl-CoA dehydrogenase deficiency (VLCAD deficiency) ACADV_HUMAN 458 F L 2uxw A 410 1 1 Very long chain acyl-CoA dehydrogenase deficiency (VLCAD deficiency) ACADV_HUMAN 185 G S 2uxw A 137 0 0 Very long chain acyl-CoA dehydrogenase deficiency (VLCAD deficiency) ACADV_HUMAN 290 G D 2uxw A 242 45.8 45.8 Very long chain acyl-CoA dehydrogenase deficiency (VLCAD deficiency) ACADV_HUMAN 294 G E 2uxw A 246 11.9 11.9 Very long chain acyl-CoA dehydrogenase deficiency (VLCAD deficiency) ACADV_HUMAN 441 G D 2uxw A 393 0.2 0.2 Very long chain acyl-CoA dehydrogenase deficiency (VLCAD deficiency) ACADV_HUMAN 463 G E 3b96 A 395 32 32 Very long chain acyl-CoA dehydrogenase deficiency (VLCAD deficiency) ACADV_HUMAN 247 K E 2uxw A 199 0 0 Very long chain acyl-CoA dehydrogenase deficiency (VLCAD deficiency) ACADV_HUMAN 247 K T 2uxw A 199 0 0 Very long chain acyl-CoA dehydrogenase deficiency (VLCAD deficiency) ACADV_HUMAN 299 K N 3b96 A 231 27.5 4.6 Very long chain acyl-CoA dehydrogenase deficiency (VLCAD deficiency) ACADV_HUMAN 382 K Q 2uxw A 334 24.1 14.1 Very long chain acyl-CoA dehydrogenase deficiency (VLCAD deficiency) ACADV_HUMAN 243 L R 2uxw A 195 0.4 0.4 Very long chain acyl-CoA dehydrogenase deficiency (VLCAD deficiency) ACADV_HUMAN 602 L I 3b96 A 534 9.2 0.8 Very long chain acyl-CoA dehydrogenase deficiency (VLCAD deficiency) ACADV_HUMAN 352 M V 2uxw A 304 0 0 Very long chain acyl-CoA dehydrogenase deficiency (VLCAD deficiency) ACADV_HUMAN 159 Q R 2uxw A 111 2.9 2.9 Very long chain acyl-CoA dehydrogenase deficiency (VLCAD deficiency) ACADV_HUMAN 366 R C 3b96 A 298 50.3 28 Very long chain acyl-CoA dehydrogenase deficiency (VLCAD deficiency) ACADV_HUMAN 366 R H 3b96 A 298 50.3 28 Very long chain acyl-CoA dehydrogenase deficiency (VLCAD deficiency) ACADV_HUMAN 450 R H 3b96 A 382 13.5 13.5 Very long chain acyl-CoA dehydrogenase deficiency (VLCAD deficiency) ACADV_HUMAN 453 R Q 3b96 A 385 18.4 7.1 Very long chain acyl-CoA dehydrogenase deficiency (VLCAD deficiency) ACADV_HUMAN 456 R H 2uxw A 408 30.4 0 Very long chain acyl-CoA dehydrogenase deficiency (VLCAD deficiency) ACADV_HUMAN 459 R W 3b96 A 391 24.9 7.6 Very long chain acyl-CoA dehydrogenase deficiency (VLCAD deficiency) ACADV_HUMAN 469 R Q 3b96 A 401 15.4 14.8 Very long chain acyl-CoA dehydrogenase deficiency (VLCAD deficiency) ACADV_HUMAN 469 R W 3b96 A 401 15.4 14.8 Very long chain acyl-CoA dehydrogenase deficiency (VLCAD deficiency) ACADV_HUMAN 613 R W 3b96 A 545 44 44 Very long chain acyl-CoA dehydrogenase deficiency (VLCAD deficiency) ACADV_HUMAN 615 R Q 3b96 A 547 48.5 45.7 Very long chain acyl-CoA dehydrogenase deficiency (VLCAD deficiency) ACADV_HUMAN 158 T N 2uxw A 110 12.1 2.9 Very long chain acyl-CoA dehydrogenase deficiency (VLCAD deficiency) ACADV_HUMAN 260 T M 2uxw A 212 0.3 0.3 Very long chain acyl-CoA dehydrogenase deficiency (VLCAD deficiency) ACADV_HUMAN 174 V M 2uxw A 126 0 0 Very long chain acyl-CoA dehydrogenase deficiency (VLCAD deficiency) ACADV_HUMAN 283 V A 2uxw A 235 0 0 Very long chain acyl-CoA dehydrogenase deficiency (VLCAD deficiency) ACADV_HUMAN 317 V A 2uxw A 269 0.4 0.4 Very long chain acyl-CoA dehydrogenase deficiency (VLCAD deficiency) ACDSB_HUMAN 255 L F 2jif A 227 2.7 2.4 Short/branched-chain acyl-CoA dehydrogenase deficiency (SBCADD) ACHB2_HUMAN 287 V L 2k59 B 24 109.2 109.2 Nocturnal frontal lobe epilepsy type 3 (ENFL3) ACHB2_HUMAN 287 V M 2k59 B 24 109.2 109.2 Nocturnal frontal lobe epilepsy type 3 (ENFL3) ACK1_HUMAN 346 E K 1u46 A 240 54.5 54.5 An ovarian endometrioid cancer sample ACTN4_HUMAN 255 K E 2r0o A 216 26.8 26.8 Focal segmental glomerulosclerosis 1 (FSGS1) ACTN4_HUMAN 262 S P 2r0o A 223 0.5 0.5 Focal segmental glomerulosclerosis 1 (FSGS1) ACTN4_HUMAN 259 T I 2r0o A 220 0 0 Focal segmental glomerulosclerosis 1 (FSGS1) ACVR1_HUMAN 328 G E 3oom A 130 20.4 20.4 Fibrodysplasia ossificans progressiva (FOP) ACVR1_HUMAN 328 G R 3oom A 130 20.4 20.4 Fibrodysplasia ossificans progressiva (FOP) ACVR1_HUMAN 328 G W 3oom A 130 20.4 20.4 Fibrodysplasia ossificans progressiva (FOP) ACVR1_HUMAN 356 G D 3q4u B 158 0 0 Fibrodysplasia ossificans progressiva (FOP) ACVR1_HUMAN 207 Q E 3h9r A 38 51.6 35.1 Fibrodysplasia ossificans progressiva (FOP) ACVR1_HUMAN 202 R I 3h9r A 33 50.2 10.9 Fibrodysplasia ossificans progressiva (FOP) ACVR1_HUMAN 206 R H 3h9r A 37 51.3 29.9 Fibrodysplasia ossificans progressiva (FOP) ACVR1_HUMAN 375 R P 3q4u A 177 8.3 8.3 Fibrodysplasia ossificans progressiva (FOP) ACY1_HUMAN 197 R W 1q7l A 197 62 49.5 Aminoacylase-1 deficiency (ACY1D) ACY1_HUMAN 381 E D 1q7l D 61 73.3 23.3 A breast cancer sample ACY1_HUMAN 353 R C 1q7l B 33 43.5 2.7 Aminoacylase-1 deficiency (ACY1D) ACY1_HUMAN 393 R H 1q7l B 73 48.7 48.7 Aminoacylase-1 deficiency (ACY1D) ACY2_HUMAN 287 A T 2o4h B 287 6.8 6.8 Canavan disease (CAND) ACY2_HUMAN 305 A E 2o4h B 305 2.7 2.7 Canavan disease (CAND) ACY2_HUMAN 57 A T 2o4h A 57 0 0 Canavan disease (CAND) ACY2_HUMAN 152 C R 2q51 B 154 4.1 4.1 Canavan disease (CAND) ACY2_HUMAN 152 C W 2q51 B 154 4.1 4.1 Canavan disease (CAND) ACY2_HUMAN 152 C Y 2q51 B 154 4.1 4.1 Canavan disease (CAND) ACY2_HUMAN 114 D E 2o4h A 114 0 0 Canavan disease (CAND) ACY2_HUMAN 114 D Y 2o4h A 114 0 0 Canavan disease (CAND) ACY2_HUMAN 249 D V 2o53 A 249 48.6 31.1 Canavan disease (CAND) ACY2_HUMAN 68 D A 2q51 B 70 6.8 6.8 Canavan disease (CAND) ACY2_HUMAN 24 E G 2q51 A 26 5.7 5.7 Canavan disease (CAND) ACY2_HUMAN 285 E A 2o4h B 285 4.8 4.8 Canavan disease (CAND) ACY2_HUMAN 295 F S 2q51 B 297 0 0 Canavan disease (CAND) ACY2_HUMAN 123 G E 2q51 A 125 20.5 20.5 Canavan disease (CAND) ACY2_HUMAN 274 G R 2q51 A 276 77.1 77.1 Canavan disease (CAND) ACY2_HUMAN 27 G R 2o53 B 27 1.2 1.2 Canavan disease (CAND) ACY2_HUMAN 21 H P 2q51 B 23 3.5 3.5 Canavan disease (CAND) ACY2_HUMAN 244 H R 2q51 B 246 11.8 11.4 Canavan disease (CAND) ACY2_HUMAN 143 I T 2o4h A 143 0 0 Canavan disease (CAND) ACY2_HUMAN 16 I T 2o4h A 16 0 0 Canavan disease (CAND) ACY2_HUMAN 195 M R 2o4h A 195 0 0 Canavan disease (CAND) ACY2_HUMAN 181 P T 2q51 A 183 37.7 37.7 Canavan disease (CAND) ACY2_HUMAN 183 P H 2o53 B 183 51 12.2 Canavan disease (CAND) ACY2_HUMAN 280 P L 2o53 A 280 0.3 0.3 Canavan disease (CAND) ACY2_HUMAN 280 P S 2o53 A 280 0.3 0.3 Canavan disease (CAND) ACY2_HUMAN 168 R C 2o4h A 168 0.9 0.9 Canavan disease (CAND) ACY2_HUMAN 168 R H 2o4h A 168 0.9 0.9 Canavan disease (CAND) ACY2_HUMAN 186 V F 2q51 B 188 50.3 0.4 Canavan disease (CAND) ACY2_HUMAN 231 Y C 2o53 B 231 2.7 2.5 Canavan disease (CAND) ADA_HUMAN 179 A D 3iar A 176 0 0 Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) ADA_HUMAN 215 A T 3iar A 212 0 0 Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) ADA_HUMAN 329 A V 3iar A 326 0.1 0.1 Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) ADA_HUMAN 83 A D 3iar A 80 0 0 Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) ADA_HUMAN 140 G E 3iar A 137 0 0 Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) ADA_HUMAN 20 G R 3iar A 17 0 0 Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) ADA_HUMAN 216 G R 3iar A 213 0 0 Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) ADA_HUMAN 74 G C 3iar A 71 15.5 15.5 Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) ADA_HUMAN 15 H D 3iar A 12 0 0 Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) ADA_HUMAN 107 L P 3iar A 104 0.4 0.4 Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) ADA_HUMAN 152 L M 3iar A 149 0 0 Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) ADA_HUMAN 304 L R 3iar A 301 0.3 0.3 Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) ADA_HUMAN 274 P L 3iar A 271 62.2 62.2 Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) ADA_HUMAN 297 P Q 3iar A 294 10 10 Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) ADA_HUMAN 199 Q P 3iar A 196 63.2 63.2 Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) ADA_HUMAN 101 R L 3iar A 98 0 0 Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) ADA_HUMAN 101 R Q 3iar A 98 0 0 Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) ADA_HUMAN 101 R W 3iar A 98 0 0 Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) ADA_HUMAN 142 R Q 3iar A 139 70.2 70.2 Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) ADA_HUMAN 149 R Q 3iar A 146 16.1 16.1 Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) ADA_HUMAN 149 R W 3iar A 146 16.1 16.1 Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) ADA_HUMAN 156 R C 3iar A 153 0.4 0.4 Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) ADA_HUMAN 156 R H 3iar A 153 0.4 0.4 Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) ADA_HUMAN 211 R C 3iar A 208 12.8 12.8 Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) ADA_HUMAN 211 R H 3iar A 208 12.8 12.8 Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) ADA_HUMAN 76 R W 3iar A 73 34.9 34.9 Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) ADA_HUMAN 291 S L 3iar A 288 0 0 Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) ADA_HUMAN 233 T I 3iar A 230 7 7 Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) ADA_HUMAN 129 V M 3iar A 126 0 0 Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) ADA_HUMAN 177 V M 3iar A 174 2.8 2.8 Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) AGAL_HUMAN 143 A P 3lx9 A 112 36.5 36.5 Fabry disease (FD) AGAL_HUMAN 143 A T 3lx9 A 112 36.5 36.5 Fabry disease (FD) AGAL_HUMAN 156 A T 3hg2 B 125 0 0 Fabry disease (FD) AGAL_HUMAN 156 A V 3hg2 B 125 0 0 Fabry disease (FD) AGAL_HUMAN 230 A T 3gxt B 199 43.4 43.4 Fabry disease (FD) AGAL_HUMAN 288 A D 1r46 A 257 0 0 Fabry disease (FD) AGAL_HUMAN 377 A D 1r46 A 346 0 0 Fabry disease (FD) AGAL_HUMAN 97 A V 1r47 A 66 1.2 1.2 Fabry disease (FD) AGAL_HUMAN 142 C R 3hg4 B 111 32.9 32.9 Fabry disease (FD) AGAL_HUMAN 142 C Y 3hg4 B 111 32.9 32.9 Fabry disease (FD) AGAL_HUMAN 172 C R 3s5z B 141 14 14 Fabry disease (FD) AGAL_HUMAN 172 C Y 3s5z B 141 14 14 Fabry disease (FD) AGAL_HUMAN 202 C W 3gxp A 171 0 0 Fabry disease (FD) AGAL_HUMAN 202 C Y 3gxp A 171 0 0 Fabry disease (FD) AGAL_HUMAN 223 C G 1r46 A 192 0 0 Fabry disease (FD) AGAL_HUMAN 378 C Y 1r46 A 347 0 0 Fabry disease (FD) AGAL_HUMAN 52 C R 3gxt A 21 27.7 27.7 Fabry disease (FD) AGAL_HUMAN 52 C S 3gxt A 21 27.7 27.7 Fabry disease (FD) AGAL_HUMAN 56 C F 3hg2 B 25 25.2 25.2 Fabry disease (FD) AGAL_HUMAN 56 C G 3hg2 B 25 25.2 25.2 Fabry disease (FD) AGAL_HUMAN 56 C Y 3hg2 B 25 25.2 25.2 Fabry disease (FD) AGAL_HUMAN 94 C S 1r46 B 63 0 0 Fabry disease (FD) AGAL_HUMAN 94 C Y 1r46 B 63 0 0 Fabry disease (FD) AGAL_HUMAN 165 D V 3gxp A 134 4.5 4.5 Fabry disease (FD) AGAL_HUMAN 170 D V 3hg3 A 139 0 0 Fabry disease (FD) AGAL_HUMAN 231 D N 1r46 A 200 55.3 53.1 Fabry disease (FD) AGAL_HUMAN 244 D H 3gxp A 213 37.4 37.4 Fabry disease (FD) AGAL_HUMAN 244 D N 3gxp A 213 37.4 37.4 Fabry disease (FD) AGAL_HUMAN 264 D V 3lx9 A 233 6.4 6.4 Fabry disease (FD) AGAL_HUMAN 266 D H 1r46 B 235 2.8 2.8 Fabry disease (FD) AGAL_HUMAN 266 D N 1r46 B 235 2.8 2.8 Fabry disease (FD) AGAL_HUMAN 266 D V 1r46 B 235 2.8 2.8 Fabry disease (FD) AGAL_HUMAN 313 D Y 1r46 B 282 19.3 19.3 Fabry disease (FD) AGAL_HUMAN 92 D H 3gxt A 61 2.2 2.2 Fabry disease (FD) AGAL_HUMAN 92 D Y 3gxt A 61 2.2 2.2 Fabry disease (FD) AGAL_HUMAN 93 D G 3hg3 B 62 1.5 1.5 Fabry disease (FD) AGAL_HUMAN 341 E K 3gxt A 310 0 0 Fabry disease (FD) AGAL_HUMAN 358 E K 3hg3 A 327 53.4 15 Fabry disease (FD) AGAL_HUMAN 59 E K 1r47 B 28 52 16.3 Fabry disease (FD) AGAL_HUMAN 66 E Q 1r47 B 35 3.7 3.7 Fabry disease (FD) AGAL_HUMAN 113 F L 1r46 B 82 0.7 0.7 Fabry disease (FD) AGAL_HUMAN 113 F S 1r46 B 82 0.7 0.7 Fabry disease (FD) AGAL_HUMAN 128 G E 3gxn B 97 38.9 38.9 Fabry disease (FD) AGAL_HUMAN 138 G R 3gxn B 107 0 0 Fabry disease (FD) AGAL_HUMAN 144 G V 3hg5 A 113 32.6 32.6 Fabry disease (FD) AGAL_HUMAN 163 G V 3hg4 B 132 0 0 Fabry disease (FD) AGAL_HUMAN 183 G D 3gxp A 152 0.6 0.6 Fabry disease (FD) AGAL_HUMAN 258 G R 1r46 B 227 4 4 Fabry disease (FD) AGAL_HUMAN 260 G A 3gxp B 229 0.1 0.1 Fabry disease (FD) AGAL_HUMAN 261 G D 1r46 A 230 0 0 Fabry disease (FD) AGAL_HUMAN 328 G A 3s5z A 297 0.6 0.6 Fabry disease (FD) AGAL_HUMAN 328 G R 3s5z A 297 0.6 0.6 Fabry disease (FD) AGAL_HUMAN 35 G R 1r47 A 4 58.7 58.7 Fabry disease (FD) AGAL_HUMAN 361 G R 3s5y B 330 43.8 13.4 Fabry disease (FD) AGAL_HUMAN 373 G D 1r46 A 342 0 0 Fabry disease (FD) AGAL_HUMAN 373 G S 1r46 A 342 0 0 Fabry disease (FD) AGAL_HUMAN 85 G D 3hg2 A 54 28.4 28.4 Fabry disease (FD) AGAL_HUMAN 46 H R 1r46 A 15 0 0 Fabry disease (FD) AGAL_HUMAN 46 H Y 1r46 A 15 0 0 Fabry disease (FD) AGAL_HUMAN 219 I N 3hg2 A 188 0.1 0.1 Fabry disease (FD) AGAL_HUMAN 242 I N 1r46 B 211 0.4 0.4 Fabry disease (FD) AGAL_HUMAN 289 I F 1r46 A 258 0 0 Fabry disease (FD) AGAL_HUMAN 91 I T 3gxp A 60 0.1 0.1 Fabry disease (FD) AGAL_HUMAN 131 L P 3gxn A 100 0 0 Fabry disease (FD) AGAL_HUMAN 166 L V 1r46 A 135 0.9 0.9 Fabry disease (FD) AGAL_HUMAN 32 L P 1r46 A 1 16.7 16.7 Fabry disease (FD) AGAL_HUMAN 89 L P 1r46 B 58 0 0 Fabry disease (FD) AGAL_HUMAN 89 L R 1r46 B 58 0 0 Fabry disease (FD) AGAL_HUMAN 187 M V 1r46 A 156 0 0 Fabry disease (FD) AGAL_HUMAN 267 M I 3hg4 B 236 1.4 1.4 Fabry disease (FD) AGAL_HUMAN 284 M T 3gxn B 253 0 0 Fabry disease (FD) AGAL_HUMAN 296 M I 1r46 A 265 0 0 Fabry disease (FD) AGAL_HUMAN 296 M V 1r46 A 265 0 0 Fabry disease (FD) AGAL_HUMAN 42 M V 3lx9 A 11 3.3 3.3 Fabry disease (FD) AGAL_HUMAN 72 M V 1r46 A 41 0 0 Fabry disease (FD) AGAL_HUMAN 215 N S 3gxt B 184 54 54 Fabry disease (FD) AGAL_HUMAN 224 N D 1r46 A 193 0 0 Fabry disease (FD) AGAL_HUMAN 224 N S 1r46 A 193 0 0 Fabry disease (FD) AGAL_HUMAN 263 N S 3lx9 A 232 3.4 3.4 Fabry disease (FD) AGAL_HUMAN 272 N K 3hg4 A 241 17.3 16.1 Fabry disease (FD) AGAL_HUMAN 272 N S 3hg4 A 241 17.3 16.1 Fabry disease (FD) AGAL_HUMAN 298 N H 1r47 B 267 0 0 Fabry disease (FD) AGAL_HUMAN 298 N K 1r47 B 267 0 0 Fabry disease (FD) AGAL_HUMAN 298 N S 1r47 B 267 0 0 Fabry disease (FD) AGAL_HUMAN 320 N K 1r46 A 289 0 0 Fabry disease (FD) AGAL_HUMAN 320 N Y 1r46 A 289 0 0 Fabry disease (FD) AGAL_HUMAN 34 N S 3hg3 A 3 26.8 26.8 Fabry disease (FD) AGAL_HUMAN 146 P S 3gxp B 115 11.4 11.4 Fabry disease (FD) AGAL_HUMAN 205 P T 1r46 A 174 0 0 Fabry disease (FD) AGAL_HUMAN 259 P L 3gxp A 228 27 27 Fabry disease (FD) AGAL_HUMAN 259 P R 3gxp A 228 27 27 Fabry disease (FD) AGAL_HUMAN 265 P R 3lxb B 234 4.9 4.9 Fabry disease (FD) AGAL_HUMAN 409 P A 1r46 A 378 24.8 0 Fabry disease (FD) AGAL_HUMAN 409 P T 1r46 A 378 24.8 0 Fabry disease (FD) AGAL_HUMAN 40 P L 3gxn A 9 0.7 0.7 Fabry disease (FD) AGAL_HUMAN 40 P S 3gxn A 9 0.7 0.7 Fabry disease (FD) AGAL_HUMAN 279 Q E 3lxa B 248 13 0.5 Fabry disease (FD) AGAL_HUMAN 279 Q H 3lxa B 248 13 0.5 Fabry disease (FD) AGAL_HUMAN 280 Q H 1r47 A 249 9 9 Fabry disease (FD) AGAL_HUMAN 321 Q E 3hg2 A 290 16.8 16.8 Fabry disease (FD) AGAL_HUMAN 327 Q K 3hg4 B 296 1.4 1.4 Fabry disease (FD) AGAL_HUMAN 100 R K 3hg5 A 69 13.7 13.7 Fabry disease (FD) AGAL_HUMAN 100 R T 3hg5 A 69 13.7 13.7 Fabry disease (FD) AGAL_HUMAN 112 R C 3s5z A 81 5.5 5.5 Fabry disease (FD) AGAL_HUMAN 112 R H 3s5z A 81 5.5 5.5 Fabry disease (FD) AGAL_HUMAN 227 R Q 1r46 B 196 1 1 Fabry disease (FD) AGAL_HUMAN 301 R Q 3hg2 B 270 21.9 21.9 Fabry disease (FD) AGAL_HUMAN 342 R Q 1r46 A 311 0 0 Fabry disease (FD) AGAL_HUMAN 356 R W 1r46 A 325 16.5 16.5 Fabry disease (FD) AGAL_HUMAN 363 R H 3s5z A 332 16.9 16.8 Fabry disease (FD) AGAL_HUMAN 49 R L 3hg4 B 18 23.9 6.1 Fabry disease (FD) AGAL_HUMAN 49 R P 3hg4 B 18 23.9 6.1 Fabry disease (FD) AGAL_HUMAN 49 R S 3hg4 B 18 23.9 6.1 Fabry disease (FD) AGAL_HUMAN 148 S N 3gxp A 117 0 0 Fabry disease (FD) AGAL_HUMAN 148 S R 3gxp A 117 0 0 Fabry disease (FD) AGAL_HUMAN 235 S C 3lxa B 204 24.1 2.7 Fabry disease (FD) AGAL_HUMAN 297 S F 1r46 A 266 0 0 Fabry disease (FD) AGAL_HUMAN 65 S T 1r47 A 34 1.1 1.1 Fabry disease (FD) AGAL_HUMAN 410 T A 1r46 A 379 6.9 0 Fabry disease (FD) AGAL_HUMAN 269 V A 3lxa A 238 0.2 0.2 Fabry disease (FD) AGAL_HUMAN 316 V E 1r46 B 285 0 0 Fabry disease (FD) AGAL_HUMAN 162 W C 1r46 B 131 10.5 10.5 Fabry disease (FD) AGAL_HUMAN 162 W R 1r46 B 131 10.5 10.5 Fabry disease (FD) AGAL_HUMAN 226 W R 1r47 A 195 0 0 Fabry disease (FD) AGAL_HUMAN 236 W C 3hg2 A 205 8 7.1 Fabry disease (FD) AGAL_HUMAN 236 W L 3hg2 A 205 8 7.1 Fabry disease (FD) AGAL_HUMAN 287 W C 3gxp A 256 0 0 Fabry disease (FD) AGAL_HUMAN 287 W G 3gxp A 256 0 0 Fabry disease (FD) AGAL_HUMAN 340 W R 3lxc A 309 0.2 0.2 Fabry disease (FD) AGAL_HUMAN 47 W G 3s5y A 16 17.6 15.2 Fabry disease (FD) AGAL_HUMAN 95 W S 1r46 A 64 0 0 Fabry disease (FD) AGAL_HUMAN 134 Y S 3lxc B 103 0.5 0.5 Fabry disease (FD) AGAL_HUMAN 216 Y D 3gxt A 185 3.1 3.1 Fabry disease (FD) AGAL_HUMAN 86 Y C 1r46 A 55 0 0 Fabry disease (FD) AGAP2_HUMAN 518 R G 2iwr A 119 39.1 39.1 A sarcoma cell line AGAP2_HUMAN 455 V A 2bmj A 56 0 0 A glioblastoma cell line AIRE_HUMAN 311 C Y 2ke1 A 23 4.6 0 Autoimmune poly-endocrinopathy candidiasis ectodermal dystrophy (APECED) AIRE_HUMAN 326 P L 2kft A 35 51 51 Autoimmune poly-endocrinopathy candidiasis ectodermal dystrophy (APECED) AIRE_HUMAN 326 P Q 2kft A 35 51 51 Autoimmune poly-endocrinopathy candidiasis ectodermal dystrophy (APECED) AIRE_HUMAN 301 V M 2kft A 10 54.9 54.9 Autoimmune poly-endocrinopathy candidiasis ectodermal dystrophy (APECED) AK1D1_HUMAN 106 L F 3bur A 106 7.4 7.4 Congenital bile acid synthesis defect type 2 (CBAS2) AK1D1_HUMAN 133 P R 3cot A 153 1.9 1.9 Congenital bile acid synthesis defect type 2 (CBAS2) AK1D1_HUMAN 198 P L 3bur A 198 0 0 Congenital bile acid synthesis defect type 2 (CBAS2) AK1D1_HUMAN 261 R C 3bur A 261 7.7 7.7 Congenital bile acid synthesis defect type 2 (CBAS2) AKT1_HUMAN 17 E K 3o96 A 20 32.6 32.6 Breast cancer (BC) AL7A1_HUMAN 171 A V 2j6l H 144 26.6 7.6 Pyridoxine-dependent epilepsy (PDE) AL7A1_HUMAN 399 E Q 2j6l H 372 9 9 Pyridoxine-dependent epilepsy (PDE) ALBU_HUMAN 90 L P 2ydf A 66 3.6 3.6 Familial dysalbuminemic hyperthyroxinemia (FDH) ALBU_HUMAN 242 R H 1bke A 215 6.7 6.7 Familial dysalbuminemic hyperthyroxinemia (FDH) ALBU_HUMAN 242 R P 1bke A 215 6.7 6.7 Familial dysalbuminemic hyperthyroxinemia (FDH) ALDOA_HUMAN 339 C Y 1ald A 338 9.8 9.8 Aldolase A deficiency ALDOA_HUMAN 129 D G 2ald A 128 85.3 11.1 Aldolase A deficiency ALDOA_HUMAN 207 E K 1ald A 206 17.1 16.9 Aldolase A deficiency ALDOA_HUMAN 347 G S 1ald A 346 0 0 Aldolase A deficiency ALDOB_HUMAN 150 A P 1xdl Y 151 9.2 9.2 Hereditary fructose intolerance (HFI) ALDOB_HUMAN 175 A D 1xdl Z 176 0 0 Hereditary fructose intolerance (HFI) ALDOB_HUMAN 338 A V 1xdl Y 339 0 0 Hereditary fructose intolerance (HFI) ALDOB_HUMAN 135 C R 1xdl Y 136 0 0 Hereditary fructose intolerance (HFI) ALDOB_HUMAN 178 C R 1xdl Y 179 0 0 Hereditary fructose intolerance (HFI) ALDOB_HUMAN 74 I T 1xdm A 75 0.5 0.5 Hereditary fructose intolerance (HFI) ALDOB_HUMAN 229 L P 1xdl Z 230 0.2 0.2 Hereditary fructose intolerance (HFI) ALDOB_HUMAN 257 L P 1xdl Y 258 0.6 0.6 Hereditary fructose intolerance (HFI) ALDOB_HUMAN 284 L P 1xdl Y 285 0 0 Hereditary fructose intolerance (HFI) ALDOB_HUMAN 335 N K 1xdl Y 336 0 0 Hereditary fructose intolerance (HFI) ALDOB_HUMAN 185 P R 1xdl Y 186 0 0 Hereditary fructose intolerance (HFI) ALDOB_HUMAN 304 R Q 1xdm A 305 29.8 29.8 Hereditary fructose intolerance (HFI) ALDOB_HUMAN 304 R W 1xdm A 305 29.8 29.8 Hereditary fructose intolerance (HFI) ALDOB_HUMAN 222 V F 1xdm B 223 5.5 5.3 Hereditary fructose intolerance (HFI) ANDR_HUMAN 687 A V 2ylo A 24 0.2 0.2 Androgen insensitivity syndrome partial (PAIS) ANDR_HUMAN 721 A T 1xow A 51 41.3 41.3 Prostate cancer ANDR_HUMAN 748 A D 3rll A 78 9 9 Androgen insensitivity syndrome partial (PAIS) ANDR_HUMAN 748 A T 3rll A 78 9 9 Prostate cancer ANDR_HUMAN 748 A V 3rll A 78 9 9 Prostate cancer ANDR_HUMAN 765 A T 2z4j A 95 0.1 0.1 Androgen insensitivity syndrome (AIS) ANDR_HUMAN 765 A V 2z4j A 95 0.1 0.1 Androgen insensitivity syndrome (AIS) ANDR_HUMAN 870 A G 2q7i A 208 0.9 0.9 Androgen insensitivity syndrome partial (PAIS) ANDR_HUMAN 870 A V 2q7i A 208 0.9 0.9 Androgen insensitivity syndrome partial (PAIS) ANDR_HUMAN 896 A T 1e3g A 240 18.2 18.2 Prostate cancer ANDR_HUMAN 686 C R 2oz7 A 16 42.6 42.6 Androgen insensitivity syndrome partial (PAIS) ANDR_HUMAN 784 C Y 1e3g A 128 0 0 Androgen insensitivity syndrome (AIS) ANDR_HUMAN 806 C Y 1t5z A 138 0 0 Androgen insensitivity syndrome partial (PAIS) ANDR_HUMAN 695 D H 2piw A 27 20.6 20.6 Androgen insensitivity syndrome (AIS) ANDR_HUMAN 695 D N 2piw A 27 20.6 20.6 Androgen insensitivity syndrome (AIS) ANDR_HUMAN 695 D V 2piw A 27 20.6 20.6 Androgen insensitivity syndrome (AIS) ANDR_HUMAN 732 D N 1t63 A 64 0.6 0.6 Androgen insensitivity syndrome (AIS) ANDR_HUMAN 732 D Y 1t63 A 64 0.6 0.6 Androgen insensitivity syndrome (AIS) ANDR_HUMAN 767 D E 2pkl A 99 17.6 17.6 Androgen insensitivity syndrome (AIS) ANDR_HUMAN 864 D G 1xow A 194 4.2 4.2 Androgen insensitivity syndrome (AIS) ANDR_HUMAN 864 D N 1xow A 194 4.2 4.2 Androgen insensitivity syndrome (AIS) ANDR_HUMAN 879 D Y 1e3g A 223 35.5 35.5 Androgen insensitivity syndrome (AIS) ANDR_HUMAN 890 D N 1e3g A 234 56 56 Prostate cancer ANDR_HUMAN 681 E K 2pnu A 28 31.4 31.4 Androgen insensitivity syndrome (AIS) ANDR_HUMAN 772 E A 2axa A 109 42.2 42.2 Androgen insensitivity syndrome partial (PAIS) ANDR_HUMAN 772 E G 2axa A 109 42.2 42.2 Androgen insensitivity syndrome partial (PAIS) ANDR_HUMAN 754 F L 2pio A 86 23.2 23.2 Androgen insensitivity syndrome partial (PAIS) ANDR_HUMAN 754 F V 2pio A 86 23.2 23.2 Androgen insensitivity syndrome (AIS) ANDR_HUMAN 764 F L 2pnu A 111 7.5 7.5 Androgen insensitivity syndrome (AIS) ANDR_HUMAN 794 F S 1e3g A 138 0 0 Androgen insensitivity syndrome (AIS) ANDR_HUMAN 827 F V 2piv A 159 0 0 Androgen insensitivity syndrome partial (PAIS) ANDR_HUMAN 856 F L 3l3x A 188 25.7 25.7 Androgen insensitivity syndrome (AIS) ANDR_HUMAN 891 F L 2pnu A 238 4.6 4.6 Prostate cancer ANDR_HUMAN 916 F L 1e3g A 260 28.1 28.1 Androgen insensitivity syndrome (AIS) ANDR_HUMAN 683 G A 1e3g A 27 68.4 68.4 Prostate cancer ANDR_HUMAN 688 G E 1gs4 A 19 63.9 63.9 Androgen insensitivity syndrome (AIS) ANDR_HUMAN 708 G A 2ax8 A 45 3.3 3.3 Androgen insensitivity syndrome partial (PAIS) ANDR_HUMAN 708 G V 2ax8 A 45 3.3 3.3 Androgen insensitivity syndrome (AIS) ANDR_HUMAN 724 G D 3l3z A 56 30.2 30.2 Androgen insensitivity syndrome (AIS) ANDR_HUMAN 743 G E 2q7l A 81 4.7 4.7 Androgen insensitivity syndrome (AIS) ANDR_HUMAN 743 G V 2q7l A 81 4.7 4.7 Androgen insensitivity syndrome (AIS) ANDR_HUMAN 750 G D 1e3g A 94 0 0 Androgen insensitivity syndrome (AIS) ANDR_HUMAN 750 G S 1e3g A 94 0 0 Prostate cancer ANDR_HUMAN 820 G A 1e3g A 164 17.8 17.8 Androgen insensitivity syndrome (AIS) ANDR_HUMAN 909 G E 2hvc A 241 26.9 26.9 Prostate cancer ANDR_HUMAN 909 G R 2hvc A 241 26.9 26.9 Androgen insensitivity syndrome partial (PAIS) ANDR_HUMAN 874 H R 2q7i A 212 1.3 1.3 Androgen insensitivity syndrome (AIS) ANDR_HUMAN 874 H Y 2q7i A 212 1.3 1.3 Prostate cancer ANDR_HUMAN 917 H R 2ama A 264 23.1 23.1 Androgen insensitivity syndrome (AIS) ANDR_HUMAN 672 I T 2q7k A 10 56.5 56.5 Prostate cancer ANDR_HUMAN 737 I T 1t5z A 69 7.9 0 Androgen insensitivity syndrome partial (PAIS) ANDR_HUMAN 841 I S 1e3g A 185 6 6 Androgen insensitivity syndrome partial (PAIS) ANDR_HUMAN 842 I T 2am9 A 189 0.1 0.1 Androgen insensitivity syndrome (AIS) ANDR_HUMAN 869 I M 1t5z A 201 2.4 2.4 Androgen insensitivity syndrome partial (PAIS) ANDR_HUMAN 898 I T 1t63 A 230 6.1 0 Androgen insensitivity syndrome (AIS) ANDR_HUMAN 717 K E 2ama A 64 33.1 33.1 Prostate cancer ANDR_HUMAN 720 K E 2z4j A 50 36.5 13.5 Prostate cancer ANDR_HUMAN 910 K R 1t5z A 242 55 55 Prostate cancer ANDR_HUMAN 677 L P 1e3g A 21 0.9 0.9 Androgen insensitivity syndrome (AIS) ANDR_HUMAN 700 L M 1t63 A 32 0 0 Androgen insensitivity syndrome (AIS) ANDR_HUMAN 701 L F 2ax9 A 38 1.6 1.6 Androgen insensitivity syndrome (AIS) ANDR_HUMAN 701 L H 2ax9 A 38 1.6 1.6 Androgen insensitivity syndrome (AIS) ANDR_HUMAN 707 L R 3b67 A 37 1.7 1.7 Androgen insensitivity syndrome (AIS) ANDR_HUMAN 712 L F 1t5z A 44 2.6 0 Androgen insensitivity syndrome partial (PAIS) ANDR_HUMAN 722 L F 1t63 A 54 2.5 2.5 Androgen insensitivity syndrome (AIS) ANDR_HUMAN 728 L S 2z4j A 58 1.8 1.8 Androgen insensitivity syndrome partial (PAIS) ANDR_HUMAN 744 L F 2pnu A 91 0.6 0.6 Androgen insensitivity syndrome (AIS) ANDR_HUMAN 762 L F 1e3g A 106 0 0 Androgen insensitivity syndrome (AIS) ANDR_HUMAN 768 L P 1e3g A 112 0 0 Androgen insensitivity syndrome (AIS) ANDR_HUMAN 790 L F 2amb A 137 0.8 0.8 Androgen insensitivity syndrome (AIS) ANDR_HUMAN 812 L F 1e3g A 156 0 0 Androgen insensitivity syndrome (AIS) ANDR_HUMAN 821 L V 1e3g A 165 8.9 8.9 Androgen insensitivity syndrome partial (PAIS) ANDR_HUMAN 830 L P 2pio A 162 4.1 4.1 Prostate cancer ANDR_HUMAN 863 L R 1e3g A 207 2.2 2.2 Androgen insensitivity syndrome (AIS) ANDR_HUMAN 880 L Q 2pio A 212 0.9 0.9 Prostate cancer ANDR_HUMAN 881 L V 2oz7 A 211 11.1 11.1 Androgen insensitivity syndrome (AIS) ANDR_HUMAN 907 L F 2q7l A 245 15.6 15.6 Androgen insensitivity syndrome (AIS) ANDR_HUMAN 742 M I 1e3g A 86 7.5 7.5 Androgen insensitivity syndrome partial (PAIS) ANDR_HUMAN 742 M V 1e3g A 86 7.5 7.5 Androgen insensitivity syndrome partial (PAIS) ANDR_HUMAN 745 M T 2pkl A 77 9.1 9.1 Androgen insensitivity syndrome partial (PAIS) ANDR_HUMAN 749 M I 1t5z A 81 1.7 1.7 Prostate cancer ANDR_HUMAN 749 M V 1t5z A 81 1.7 1.7 Androgen insensitivity syndrome (AIS) ANDR_HUMAN 780 M I 2hvc A 112 3.1 3.1 Androgen insensitivity syndrome (AIS) ANDR_HUMAN 787 M V 1t5z A 119 0.7 0.7 Androgen insensitivity syndrome (AIS) ANDR_HUMAN 807 M R 1e3g A 151 0 0 Androgen insensitivity syndrome (AIS) ANDR_HUMAN 807 M T 1e3g A 151 0 0 Androgen insensitivity syndrome partial (PAIS) ANDR_HUMAN 807 M V 1e3g A 151 0 0 Androgen insensitivity syndrome (AIS) ANDR_HUMAN 886 M V 2amb A 233 64.6 64.6 Androgen insensitivity syndrome (AIS) ANDR_HUMAN 895 M T 1gs4 A 226 1.7 1.7 Androgen insensitivity syndrome (AIS) ANDR_HUMAN 705 N S 2q7k A 43 4.2 4.2 Androgen insensitivity syndrome (AIS) ANDR_HUMAN 705 N Y 2q7k A 43 4.2 4.2 Androgen insensitivity syndrome (AIS) ANDR_HUMAN 727 N K 1gs4 A 58 42 42 Androgen insensitivity syndrome (AIS) ANDR_HUMAN 756 N S 1xj7 A 94 48.7 48.7 Androgen insensitivity syndrome partial (PAIS) ANDR_HUMAN 758 N T 2q7i A 96 51.7 51.7 Androgen insensitivity syndrome partial (PAIS) ANDR_HUMAN 771 N H 2amb A 118 40.3 40.3 Androgen insensitivity syndrome partial (PAIS) ANDR_HUMAN 671 P H 2pit A 3 19.5 19.5 Androgen insensitivity syndrome partial (PAIS) ANDR_HUMAN 682 P T 1e3g A 26 28.8 28.8 Androgen insensitivity syndrome partial (PAIS) ANDR_HUMAN 723 P S 1xj7 A 61 28.7 28.7 Androgen insensitivity syndrome (AIS) ANDR_HUMAN 766 P S 2z4j A 96 37.5 37.5 Androgen insensitivity syndrome (AIS) ANDR_HUMAN 892 P L 2z4j A 222 9.5 9.5 Androgen insensitivity syndrome (AIS) ANDR_HUMAN 904 P H 1xj7 A 242 23.6 23.6 Androgen insensitivity syndrome (AIS) ANDR_HUMAN 904 P S 1xj7 A 242 23.6 23.6 Androgen insensitivity syndrome (AIS) ANDR_HUMAN 913 P S 1t65 A 245 17.2 17.2 Androgen insensitivity syndrome partial (PAIS) ANDR_HUMAN 670 Q R 1xj7 A 8 21.7 21.7 Prostate cancer ANDR_HUMAN 711 Q E 2pnu A 58 9.3 9.3 Androgen insensitivity syndrome partial (PAIS) ANDR_HUMAN 733 Q H 1xj7 A 71 8.6 1.6 Androgen insensitivity syndrome partial (PAIS) ANDR_HUMAN 798 Q E 3b68 A 128 78.1 78.1 Androgen insensitivity syndrome (AIS) ANDR_HUMAN 902 Q R 3rlj A 232 4.5 4.5 Prostate cancer ANDR_HUMAN 710 R T 2pnu A 57 35.2 35.2 Androgen insensitivity syndrome (AIS) ANDR_HUMAN 726 R L 2ao6 A 56 56.8 47.1 Prostate cancer ANDR_HUMAN 752 R Q 3zqt A 89 22 22 Androgen insensitivity syndrome (AIS) ANDR_HUMAN 774 R C 1xj7 A 112 6.4 6.4 Androgen insensitivity syndrome (AIS) ANDR_HUMAN 774 R H 1xj7 A 112 6.4 6.4 Androgen insensitivity syndrome (AIS) ANDR_HUMAN 779 R W 2axa A 116 56.9 56.9 Androgen insensitivity syndrome (AIS) ANDR_HUMAN 788 R S 2ax6 A 125 14.9 14.9 Androgen insensitivity syndrome (AIS) ANDR_HUMAN 831 R L 3zqt A 168 9.7 9.7 Androgen insensitivity syndrome (AIS) ANDR_HUMAN 831 R Q 3zqt A 168 9.7 9.7 Androgen insensitivity syndrome (AIS) ANDR_HUMAN 840 R C 1xj7 A 178 23.3 23.3 Androgen insensitivity syndrome (AIS) ANDR_HUMAN 840 R G 1xj7 A 178 23.3 23.3 Androgen insensitivity syndrome partial (PAIS) ANDR_HUMAN 840 R H 1xj7 A 178 23.3 23.3 Androgen insensitivity syndrome (AIS) ANDR_HUMAN 840 R S 1xj7 A 178 23.3 23.3 Androgen insensitivity syndrome partial (PAIS) ANDR_HUMAN 846 R G 2am9 A 193 24.7 24.7 Prostate cancer ANDR_HUMAN 854 R K 2ylp A 191 19.4 19.4 Androgen insensitivity syndrome partial (PAIS) ANDR_HUMAN 855 R C 2piv A 187 5.3 5.3 Androgen insensitivity syndrome (AIS) ANDR_HUMAN 855 R H 2piv A 187 5.3 5.3 Androgen insensitivity syndrome (AIS) ANDR_HUMAN 871 R G 3l3x A 203 37.2 37.2 Androgen insensitivity syndrome (AIS) ANDR_HUMAN 702 S A 1e3g A 46 17.1 17.1 Androgen insensitivity syndrome (AIS) ANDR_HUMAN 703 S C 2oz7 A 33 8.4 8.4 Androgen insensitivity syndrome (AIS) ANDR_HUMAN 703 S G 2oz7 A 33 8.4 8.4 Androgen insensitivity syndrome (AIS) ANDR_HUMAN 759 S F 2yhd A 89 2.7 2.7 Androgen insensitivity syndrome (AIS) ANDR_HUMAN 759 S P 2yhd A 89 2.7 2.7 Prostate cancer ANDR_HUMAN 782 S N 2ax7 A 119 52.6 52.6 Prostate cancer ANDR_HUMAN 791 S P 1e3g A 135 0 0 Prostate cancer ANDR_HUMAN 814 S N 1e3g A 158 3 3 Androgen insensitivity syndrome (AIS) ANDR_HUMAN 865 S P 2amb A 212 29.9 29.9 Androgen insensitivity syndrome (AIS) ANDR_HUMAN 755 T A 1gs4 A 86 46.3 46.3 Prostate cancer ANDR_HUMAN 877 T A 2ao6 A 207 8.9 8.9 Prostate cancer ANDR_HUMAN 877 T S 2ao6 A 207 8.9 8.9 Prostate cancer ANDR_HUMAN 684 V I 3rll A 14 72.4 72.4 Androgen insensitivity syndrome (AIS) ANDR_HUMAN 715 V M 2pnu A 62 3.7 3.7 Prostate cancer ANDR_HUMAN 730 V M 2q7l A 68 56.6 25.7 Prostate cancer ANDR_HUMAN 746 V M 2pnu A 93 2.2 2.2 Androgen insensitivity syndrome partial (PAIS) ANDR_HUMAN 757 V A 1e3g A 101 9.8 9.8 Prostate cancer ANDR_HUMAN 866 V E 1gs4 A 197 0 0 Androgen insensitivity syndrome (AIS) ANDR_HUMAN 866 V L 1gs4 A 197 0 0 Androgen insensitivity syndrome partial (PAIS) ANDR_HUMAN 866 V M 1gs4 A 197 0 0 Androgen insensitivity syndrome (AIS) ANDR_HUMAN 889 V M 1xq3 A 219 2.5 2.5 Androgen insensitivity syndrome (AIS) ANDR_HUMAN 903 V M 1xj7 A 241 0 0 Androgen insensitivity syndrome partial (PAIS) ANDR_HUMAN 911 V L 2piq A 243 0.5 0.5 Androgen insensitivity syndrome partial (PAIS) ANDR_HUMAN 741 W R 1e3g A 85 0.5 0.5 Androgen insensitivity syndrome (AIS) ANDR_HUMAN 751 W R 2pnu A 98 12.5 12.5 Androgen insensitivity syndrome (AIS) ANDR_HUMAN 763 Y C 2pnu A 110 14.5 14.5 Androgen insensitivity syndrome partial (PAIS) ANDR_HUMAN 763 Y H 2pnu A 110 14.5 14.5 Androgen insensitivity syndrome (AIS) ANDR_HUMAN 834 Y C 2pir A 166 1.4 1.4 Androgen insensitivity syndrome (AIS) ANDR_HUMAN 919 Q R 1t65 A 251 61.3 61.3 Prostate cancer ANDR_HUMAN 664 I N 1xj7 A 2 36.6 36.6 Androgen insensitivity syndrome (AIS) ANDR_HUMAN 630 K T 3btr B 10 93.2 21.7 Prostate cancer ANDR_HUMAN 629 R Q 3btr B 9 101.4 58.2 Prostate cancer ANGI_HUMAN 63 C W 1h0d C 39 10.6 0 Amyotrophic lateral sclerosis type 9 (ALS9) ANGI_HUMAN 138 H R 1a4y B 114 47.7 13.5 Amyotrophic lateral sclerosis type 9 (ALS9) ANGI_HUMAN 41 K E 1un3 A 17 42.8 42.8 Amyotrophic lateral sclerosis type 9 (ALS9) ANGI_HUMAN 41 K I 1un3 A 17 42.8 42.8 Amyotrophic lateral sclerosis type 9 (ALS9) ANGI_HUMAN 64 K I 1a4y E 40 28.6 0.8 Amyotrophic lateral sclerosis type 9 (ALS9) ANGI_HUMAN 136 P L 1a4y B 112 0 0 Amyotrophic lateral sclerosis type 9 (ALS9) ANGI_HUMAN 36 Q L 1a4y E 12 19.6 7.1 Amyotrophic lateral sclerosis type 9 (ALS9) ANGI_HUMAN 55 R K 1a4y B 31 72.6 17.7 Amyotrophic lateral sclerosis type 9 (ALS9) ANGI_HUMAN 52 S N 1a4y B 28 21.4 17.3 Amyotrophic lateral sclerosis type 9 (ALS9) ANGI_HUMAN 137 V I 1gv7 A 115 4.7 4.7 Amyotrophic lateral sclerosis type 9 (ALS9) ANK1_HUMAN 463 V I 1n11 A 73 11 11 Spherocytosis type 1 (SPH1) ANK1_HUMAN 1054 I T 3f59 C 147 0.9 0.9 Spherocytosis type 1 (SPH1) ANT3_HUMAN 416 A P 1ant L 384 0 0 Antithrombin-III deficiency (AT3D) ANT3_HUMAN 416 A S 1ant L 384 0 0 Antithrombin-III deficiency (AT3D) ANT3_HUMAN 419 A V 1ath B 387 0 0 Antithrombin-III deficiency (AT3D) ANT3_HUMAN 436 A T 1ant I 404 0 0 Antithrombin-III deficiency (AT3D) ANT3_HUMAN 459 A D 1ant I 427 0 0 Antithrombin-III deficiency (AT3D) ANT3_HUMAN 127 C R 2b4x I 91 2.8 2.8 Antithrombin-III deficiency (AT3D) ANT3_HUMAN 160 C Y 2beh I 128 2.7 2.7 Antithrombin-III deficiency (AT3D) ANT3_HUMAN 462 C F 2gd4 I 441 5.4 5.4 Antithrombin-III deficiency (AT3D) ANT3_HUMAN 398 D H 1azx L 366 0.3 0.3 Antithrombin-III deficiency (AT3D) ANT3_HUMAN 269 E K 1jvq L 237 54 7.9 Antithrombin-III deficiency (AT3D) ANT3_HUMAN 334 E K 2hij I 302 45 45 Antithrombin-III deficiency (AT3D) ANT3_HUMAN 179 F L 1br8 I 147 0 0 Antithrombin-III deficiency (AT3D) ANT3_HUMAN 261 F L 3kcg I 229 0.2 0.2 Antithrombin-III deficiency (AT3D) ANT3_HUMAN 434 F C 1azx I 402 0 0 Antithrombin-III deficiency (AT3D) ANT3_HUMAN 434 F L 1azx I 402 0 0 Antithrombin-III deficiency (AT3D) ANT3_HUMAN 434 F S 1azx I 402 0 0 Antithrombin-III deficiency (AT3D) ANT3_HUMAN 90 F L 1ath A 58 0 0 Antithrombin-III deficiency (AT3D) ANT3_HUMAN 424 G D 1ath B 392 0.4 0.4 Antithrombin-III deficiency (AT3D) ANT3_HUMAN 456 G R 1dzh I 424 0.1 0.1 Antithrombin-III deficiency (AT3D) ANT3_HUMAN 152 H Y 1dzg I 120 0 0 Antithrombin-III deficiency (AT3D) ANT3_HUMAN 251 I T 1azx L 219 0 0 Antithrombin-III deficiency (AT3D) ANT3_HUMAN 316 I N 1br8 I 284 0 0 Antithrombin-III deficiency (AT3D) ANT3_HUMAN 453 I T 1ath B 421 0 0 Antithrombin-III deficiency (AT3D) ANT3_HUMAN 146 K E 1dzg I 114 2.1 2.1 Antithrombin-III deficiency (AT3D) ANT3_HUMAN 131 L F 2b4x I 95 1.3 1.3 Antithrombin-III deficiency (AT3D) ANT3_HUMAN 131 L V 2b4x I 95 1.3 1.3 Antithrombin-III deficiency (AT3D) ANT3_HUMAN 158 L P 1ant L 126 0 0 Antithrombin-III deficiency (AT3D) ANT3_HUMAN 178 L H 1oyh L 146 0 0 Antithrombin-III deficiency (AT3D) ANT3_HUMAN 302 L P 1ant I 270 0 0 Antithrombin-III deficiency (AT3D) ANT3_HUMAN 441 L P 1dzh I 409 0.2 0.2 Antithrombin-III deficiency (AT3D) ANT3_HUMAN 98 L P 2beh L 66 0.1 0.1 Antithrombin-III deficiency (AT3D) ANT3_HUMAN 121 M K 1dzh I 89 0 0 Antithrombin-III deficiency (AT3D) ANT3_HUMAN 283 M I 1r1l I 251 0 0 Antithrombin-III deficiency (AT3D) ANT3_HUMAN 283 M V 1r1l I 251 0 0 Antithrombin-III deficiency (AT3D) ANT3_HUMAN 219 N D 1ant L 187 0.1 0.1 Antithrombin-III deficiency (AT3D) ANT3_HUMAN 219 N K 1ant L 187 0.1 0.1 Antithrombin-III deficiency (AT3D) ANT3_HUMAN 437 N K 1r1l I 405 10 10 Antithrombin-III deficiency (AT3D) ANT3_HUMAN 112 P T 1nq9 I 80 0 0 Antithrombin-III deficiency (AT3D) ANT3_HUMAN 439 P L 1jvq L 407 6 6 Antithrombin-III deficiency (AT3D) ANT3_HUMAN 439 P T 1jvq L 407 6 6 Antithrombin-III deficiency (AT3D) ANT3_HUMAN 461 P L 3evj L 429 5.6 0.8 Antithrombin-III deficiency (AT3D) ANT3_HUMAN 133 Q K 2ant L 101 11.1 11.1 Antithrombin-III deficiency (AT3D) ANT3_HUMAN 150 Q P 2gd4 I 129 1.5 1.5 Antithrombin-III deficiency (AT3D) ANT3_HUMAN 161 R Q 1sr5 A 129 10.5 10.5 Antithrombin-III deficiency (AT3D) ANT3_HUMAN 425 R C 3kcg I 393 102.7 1.1 Antithrombin-III deficiency (AT3D) ANT3_HUMAN 425 R H 3kcg I 393 102.7 1.1 Antithrombin-III deficiency (AT3D) ANT3_HUMAN 425 R P 3kcg I 393 102.7 1.1 Antithrombin-III deficiency (AT3D) ANT3_HUMAN 438 R G 1ath B 406 16.7 9.6 Antithrombin-III deficiency (AT3D) ANT3_HUMAN 438 R M 1ath B 406 16.7 9.6 Antithrombin-III deficiency (AT3D) ANT3_HUMAN 457 R T 2ant L 425 0 0 Antithrombin-III deficiency (AT3D) ANT3_HUMAN 56 R C 1dzg L 24 20.7 20.7 Antithrombin-III deficiency (AT3D) ANT3_HUMAN 79 R C 2b4x L 43 1.7 1.7 Antithrombin-III deficiency (AT3D) ANT3_HUMAN 79 R H 2b4x L 43 1.7 1.7 Antithrombin-III deficiency (AT3D) ANT3_HUMAN 79 R S 2b4x L 43 1.7 1.7 Antithrombin-III deficiency (AT3D) ANT3_HUMAN 89 R C 2ant I 57 10.8 10.8 Antithrombin-III deficiency (AT3D) ANT3_HUMAN 148 S P 2b4x I 112 0 0 Antithrombin-III deficiency (AT3D) ANT3_HUMAN 214 S F 1e03 L 182 0.2 0.2 Antithrombin-III deficiency (AT3D) ANT3_HUMAN 214 S Y 1e03 L 182 0.2 0.2 Antithrombin-III deficiency (AT3D) ANT3_HUMAN 223 S P 1dzg L 191 7.9 7.9 Antithrombin-III deficiency (AT3D) ANT3_HUMAN 323 S P 1ant I 291 28.1 28.1 Antithrombin-III deficiency (AT3D) ANT3_HUMAN 381 S P 1ant I 349 0 0 Antithrombin-III deficiency (AT3D) ANT3_HUMAN 397 S P 1azx L 365 0.1 0.1 Antithrombin-III deficiency (AT3D) ANT3_HUMAN 426 S L 1sr5 A 394 85.4 0.9 Antithrombin-III deficiency (AT3D) ANT3_HUMAN 243 T I 1br8 L 211 0 0 Antithrombin-III deficiency (AT3D) ANT3_HUMAN 257 W R 1ath B 225 0.6 0.6 Antithrombin-III deficiency (AT3D) ANT3_HUMAN 198 Y C 1dzg I 166 4 4 Antithrombin-III deficiency (AT3D) ANT3_HUMAN 198 Y H 1dzg I 166 4 4 Antithrombin-III deficiency (AT3D) ANT3_HUMAN 95 Y C 1br8 I 63 0 0 Antithrombin-III deficiency (AT3D) ANT3_HUMAN 95 Y S 1br8 I 63 0 0 Antithrombin-III deficiency (AT3D) ANT3_HUMAN 414 A T 1ath B 382 0 0 Antithrombin-III deficiency (AT3D) ANT3_HUMAN 412 S R 1e04 I 380 0 0 Antithrombin-III deficiency (AT3D) ANT3_HUMAN 39 I N 1dzg I 7 2.4 2.4 Antithrombin-III deficiency (AT3D) ANT3_HUMAN 73 P L 3kcg I 41 13.8 13.8 Antithrombin-III deficiency (AT3D) ANTR2_HUMAN 105 G D 1sht X 69 1.8 1.8 Juvenile hyaline fibromatosis (JHF) ANTR2_HUMAN 189 I T 1sht X 153 0 0 Infantile systemic hyalinosis (ISH) ANTR2_HUMAN 45 L P 1sht X 9 0 0 Infantile systemic hyalinosis (ISH) ANTR2_HUMAN 218 C R 1shu X 182 63.5 63.5 Infantile systemic hyalinosis (ISH) AOFA_HUMAN 15 D E 2z5x A 4 24.8 24.8 A breast cancer sample APOA1_HUMAN 84 L R 3r2p A 61 31.4 0 Amyloidosis type 8 (AMYL8) APOA1_HUMAN 50 G R 3r2p A 27 9.6 0 Amyloid polyneuropathy-nephropathy Iowa type (AMYLIOWA) APOC2_HUMAN 48 W R 1o8t A 26 65.2 65.2 Hyperlipoproteinemia type IB APOC3_HUMAN 78 K E 2jq3 A 58 56.5 56.5 Hyperalphalipoproteinemia APOE_HUMAN 130 C R 1h7i A 112 0.1 0.1 Hyperlipoproteinemia type III APOE_HUMAN 164 K E 2l7b A 154 0 0 Hyperlipoproteinemia type III APOE_HUMAN 164 K Q 2l7b A 154 0 0 Hyperlipoproteinemia type III APOE_HUMAN 154 R C 2l7b A 144 1.8 1.8 Hyperlipoproteinemia type III APOE_HUMAN 154 R S 2l7b A 144 1.8 1.8 Hyperlipoproteinemia type III APOE_HUMAN 160 R C 2l7b A 150 0 0 Hyperlipoproteinemia type III APOE_HUMAN 163 R C 2l7b A 153 5.4 5.4 Hyperlipoproteinemia type III APOE_HUMAN 163 R P 2l7b A 153 5.4 5.4 Lipoprotein glomerulopathy (LPG) APOE_HUMAN 176 R C 2l7b A 166 1.2 1.2 Hyperlipoproteinemia type III APOE_HUMAN 43 R C 1or3 A 25 54.1 54.1 Lipoprotein glomerulopathy (LPG) APOE_HUMAN 31 E K 2l7b A 21 38.5 38.5 Hyperlipoproteinemia type III APT_HUMAN 153 C R 1ore A 153 0 0 APRT deficiency APT_HUMAN 65 D V 1ore A 65 3.3 2.8 APRT deficiency APT_HUMAN 110 L P 1zn7 A 110 0 0 APRT deficiency APT_HUMAN 136 M T 1zn7 A 136 1.2 1.2 APRT deficiency APT_HUMAN 150 V F 1zn8 B 150 14 14 APRT deficiency ARBK1_HUMAN 578 R Q 3krw A 577 50.7 50.7 A colorectal adenocarcinoma sample ARGI1_HUMAN 138 G V 1wva A 138 0 0 Argininemia (ARGIN) ARGI1_HUMAN 235 G R 1wva A 235 0 0 Argininemia (ARGIN) ARGI1_HUMAN 11 I T 1wvb B 11 0 0 Argininemia (ARGIN) ARHG1_HUMAN 165 M V 1shz C 159 67.7 3.3 A colorectal cancer sample ARHG4_HUMAN 441 T R 2pz1 A 275 6.3 6.3 A breast cancer sample ARHG8_HUMAN 202 D N 3eo2 A 60 49 49 A breast cancer sample ARHG9_HUMAN 55 G A 2ysq A 55 1.2 1.2 Startle disease with epilepsy (STHEE) ARL6_HUMAN 169 G A 2h57 A 173 25.6 25.6 Bardet-Biedl syndrome type 3 (BBS3) ARL6_HUMAN 170 L W 2h57 A 174 3.6 3.6 Bardet-Biedl syndrome type 3 (BBS3) ARL6_HUMAN 31 T M 2h57 A 35 25.6 25.6 Bardet-Biedl syndrome type 3 (BBS3) ARL6_HUMAN 31 T R 2h57 A 35 25.6 25.6 Bardet-Biedl syndrome type 3 (BBS3) ARLY_HUMAN 31 D N 1k62 B 31 0.3 0.3 Arginosuccinicaciduria (ARGINSA) ARLY_HUMAN 200 G V 1aos A 200 1.5 1.5 A breast cancer sample ARLY_HUMAN 382 M R 1aos A 382 18.5 14.7 Arginosuccinicaciduria (ARGINSA) ARLY_HUMAN 286 Q R 1k62 B 286 18.3 18.3 Arginosuccinicaciduria (ARGINSA) ARLY_HUMAN 111 R W 1aos B 111 3.8 3.8 Arginosuccinicaciduria (ARGINSA) ARLY_HUMAN 113 R Q 1k62 B 113 31.4 31.4 Arginosuccinicaciduria (ARGINSA) ARLY_HUMAN 186 R Q 1k62 A 186 26.9 4.9 Arginosuccinicaciduria (ARGINSA) ARLY_HUMAN 193 R Q 1k62 A 193 52.2 8.3 Arginosuccinicaciduria (ARGINSA) ARLY_HUMAN 236 R W 1k62 A 236 2.2 2.2 Arginosuccinicaciduria (ARGINSA) ARLY_HUMAN 379 R C 1k62 A 379 58 46.7 Arginosuccinicaciduria (ARGINSA) ARLY_HUMAN 385 R C 1aos A 385 83.8 41 Arginosuccinicaciduria (ARGINSA) ARLY_HUMAN 456 R W 1aos A 456 33.8 33.8 Arginosuccinicaciduria (ARGINSA) ARLY_HUMAN 95 R C 1k62 B 95 11 11 Arginosuccinicaciduria (ARGINSA) ARLY_HUMAN 181 T S 1k62 A 181 4.5 4.2 A breast cancer sample ARLY_HUMAN 178 V M 1k62 B 178 37 4.2 Arginosuccinicaciduria (ARGINSA) ARLY_HUMAN 335 V L 1k62 B 335 0.4 0.4 Arginosuccinicaciduria (ARGINSA) ARSA_HUMAN 212 A P 1auk A 194 0 0 Leukodystrophy metachromatic (MLD) ARSA_HUMAN 212 A V 1auk A 194 0 0 Leukodystrophy metachromatic (MLD) ARSA_HUMAN 224 A V 1auk A 206 0 0 Leukodystrophy metachromatic (MLD) ARSA_HUMAN 314 A T 1n2k A 296 0.6 0.6 Leukodystrophy metachromatic (MLD) ARSA_HUMAN 469 A G 1n2l A 451 71 71 Leukodystrophy metachromatic (MLD) ARSA_HUMAN 156 C R 1n2l A 138 0.5 0.5 Leukodystrophy metachromatic (MLD) ARSA_HUMAN 172 C Y 1n2k A 154 12.4 12.4 Leukodystrophy metachromatic (MLD) ARSA_HUMAN 294 C Y 1e3c P 276 31.3 15.6 Leukodystrophy metachromatic (MLD) ARSA_HUMAN 300 C F 1n2l A 282 6.8 6.8 Leukodystrophy metachromatic (MLD) ARSA_HUMAN 489 C G 1e2s P 471 19.8 19.8 Leukodystrophy metachromatic (MLD) ARSA_HUMAN 152 D Y 1auk A 134 10.6 10.6 Leukodystrophy metachromatic (MLD) ARSA_HUMAN 169 D N 1e3c P 151 34.1 34.1 Leukodystrophy metachromatic (MLD) ARSA_HUMAN 255 D H 1e3c P 237 1.3 1.3 Leukodystrophy metachromatic (MLD) ARSA_HUMAN 281 D Y 1auk A 263 0 0 Leukodystrophy metachromatic (MLD) ARSA_HUMAN 29 D N 1e2s P 11 0 0 Leukodystrophy metachromatic (MLD) ARSA_HUMAN 30 D H 1n2k A 12 1.4 1.4 Leukodystrophy metachromatic (MLD) ARSA_HUMAN 335 D V 1auk A 317 0 0 Leukodystrophy metachromatic (MLD) ARSA_HUMAN 381 D E 1n2k A 363 32.9 32.9 Leukodystrophy metachromatic (MLD) ARSA_HUMAN 253 E K 1e2s P 235 0.3 0.3 Leukodystrophy metachromatic (MLD) ARSA_HUMAN 312 E D 1auk A 294 0 0 Leukodystrophy metachromatic (MLD) ARSA_HUMAN 382 E K 1e2s P 364 62 25.3 Leukodystrophy metachromatic (MLD) ARSA_HUMAN 219 F V 1e2s P 201 0.4 0.4 Leukodystrophy metachromatic (MLD) ARSA_HUMAN 247 F S 1n2k A 229 0 0 Leukodystrophy metachromatic (MLD) ARSA_HUMAN 119 G R 1auk A 101 0 0 Leukodystrophy metachromatic (MLD) ARSA_HUMAN 122 G S 1auk A 104 0 0 Leukodystrophy metachromatic (MLD) ARSA_HUMAN 154 G D 1e2s P 136 0 0 Leukodystrophy metachromatic (MLD) ARSA_HUMAN 245 G R 1e2s P 227 42.1 22.1 Leukodystrophy metachromatic (MLD) ARSA_HUMAN 293 G D 1e2s P 275 11.8 11.8 Leukodystrophy metachromatic (MLD) ARSA_HUMAN 293 G S 1e2s P 275 11.8 11.8 Leukodystrophy metachromatic (MLD) ARSA_HUMAN 308 G D 1e1z P 290 0 0 Leukodystrophy metachromatic (MLD) ARSA_HUMAN 308 G V 1e1z P 290 0 0 Leukodystrophy metachromatic (MLD) ARSA_HUMAN 309 G S 1auk A 291 0 0 Leukodystrophy metachromatic (MLD) ARSA_HUMAN 325 G S 1n2l A 307 38.1 38.1 Leukodystrophy metachromatic (MLD) ARSA_HUMAN 32 G S 1auk A 14 0 0 Leukodystrophy metachromatic (MLD) ARSA_HUMAN 86 G D 1auk A 68 0 0 Leukodystrophy metachromatic (MLD) ARSA_HUMAN 99 G D 1e3c P 81 0 0 Leukodystrophy metachromatic (MLD) ARSA_HUMAN 99 G V 1e3c P 81 0 0 Leukodystrophy metachromatic (MLD) ARSA_HUMAN 227 H Y 1n2k A 209 0.7 0.7 Leukodystrophy metachromatic (MLD) ARSA_HUMAN 397 H Y 1n2l A 379 0.1 0.1 Leukodystrophy metachromatic (MLD) ARSA_HUMAN 179 I S 1n2l A 161 0.4 0.4 Leukodystrophy metachromatic (MLD) ARSA_HUMAN 302 K N 1n2k A 284 2 2 Leukodystrophy metachromatic (MLD) ARSA_HUMAN 367 K N 1e3c P 349 75.4 75.4 Leukodystrophy metachromatic (MLD) ARSA_HUMAN 135 L P 1n2l A 117 1.4 1.4 Leukodystrophy metachromatic (MLD) ARSA_HUMAN 181 L Q 1auk A 163 0 0 Leukodystrophy metachromatic (MLD) ARSA_HUMAN 298 L S 1e33 P 280 4.3 4 Leukodystrophy metachromatic (MLD) ARSA_HUMAN 428 L P 1auk A 410 0 0 Leukodystrophy metachromatic (MLD) ARSA_HUMAN 68 L P 1n2l A 50 4 4 Leukodystrophy metachromatic (MLD) ARSA_HUMAN 282 N S 1e1z P 264 0 0 Leukodystrophy metachromatic (MLD) ARSA_HUMAN 136 P L 1auk A 118 0 0 Leukodystrophy metachromatic (MLD) ARSA_HUMAN 136 P S 1auk A 118 0 0 Leukodystrophy metachromatic (MLD) ARSA_HUMAN 148 P L 1e33 P 130 0.5 0.5 Leukodystrophy metachromatic (MLD) ARSA_HUMAN 155 P L 1n2k A 137 22 22 Leukodystrophy metachromatic (MLD) ARSA_HUMAN 155 P R 1n2k A 137 22 22 Leukodystrophy metachromatic (MLD) ARSA_HUMAN 167 P R 1e2s P 149 57.7 57.7 Leukodystrophy metachromatic (MLD) ARSA_HUMAN 191 P T 1n2k A 173 11.6 11.6 Leukodystrophy metachromatic (MLD) ARSA_HUMAN 231 P T 1auk A 213 0.2 0.2 Leukodystrophy metachromatic (MLD) ARSA_HUMAN 377 P L 1n2k A 359 3 3 Leukodystrophy metachromatic (MLD) ARSA_HUMAN 425 P T 1n2k A 407 56.4 20.4 Leukodystrophy metachromatic (MLD) ARSA_HUMAN 426 P L 1n2k A 408 0.1 0.1 Leukodystrophy metachromatic (MLD) ARSA_HUMAN 82 P L 1n2k A 64 1.2 1.2 Leukodystrophy metachromatic (MLD) ARSA_HUMAN 94 P A 1n2l A 76 2.2 2.2 Leukodystrophy metachromatic (MLD) ARSA_HUMAN 153 Q H 1auk A 135 6.2 6.2 Leukodystrophy metachromatic (MLD) ARSA_HUMAN 190 Q H 1auk A 172 0 0 Leukodystrophy metachromatic (MLD) ARSA_HUMAN 143 R G 1e3c P 125 26.4 26.4 Leukodystrophy metachromatic (MLD) ARSA_HUMAN 217 R H 1e33 P 199 29.5 29.5 Leukodystrophy metachromatic (MLD) ARSA_HUMAN 244 R C 1e2s P 226 17 2.3 Leukodystrophy metachromatic (MLD) ARSA_HUMAN 244 R H 1e2s P 226 17 2.3 Leukodystrophy metachromatic (MLD) ARSA_HUMAN 288 R C 1e33 P 270 27.4 27.4 Leukodystrophy metachromatic (MLD) ARSA_HUMAN 288 R H 1e33 P 270 27.4 27.4 Leukodystrophy metachromatic (MLD) ARSA_HUMAN 311 R Q 1e33 P 293 4.9 0.7 Leukodystrophy metachromatic (MLD) ARSA_HUMAN 370 R Q 1auk A 352 5.2 5.2 Leukodystrophy metachromatic (MLD) ARSA_HUMAN 370 R W 1auk A 352 5.2 5.2 Leukodystrophy metachromatic (MLD) ARSA_HUMAN 384 R C 1n2l A 366 39.3 29.4 Leukodystrophy metachromatic (MLD) ARSA_HUMAN 390 R Q 1n2l A 372 4.6 4.6 Leukodystrophy metachromatic (MLD) ARSA_HUMAN 390 R W 1n2l A 372 4.6 4.6 Leukodystrophy metachromatic (MLD) ARSA_HUMAN 84 R Q 1e2s P 66 22.1 22.1 Leukodystrophy metachromatic (MLD) ARSA_HUMAN 84 R W 1e2s P 66 22.1 22.1 Leukodystrophy metachromatic (MLD) ARSA_HUMAN 250 S Y 1e1z P 232 0 0 Leukodystrophy metachromatic (MLD) ARSA_HUMAN 295 S Y 1e2s P 277 11.7 11.7 Leukodystrophy metachromatic (MLD) ARSA_HUMAN 95 S N 1e33 P 77 4.7 4.7 Leukodystrophy metachromatic (MLD) ARSA_HUMAN 96 S F 1e3c P 78 5.7 5.7 Leukodystrophy metachromatic (MLD) ARSA_HUMAN 96 S L 1e3c P 78 5.7 5.7 Leukodystrophy metachromatic (MLD) ARSA_HUMAN 274 T M 1e3c P 256 0.8 0.8 Leukodystrophy metachromatic (MLD) ARSA_HUMAN 286 T P 1e33 P 268 11.5 9.7 Leukodystrophy metachromatic (MLD) ARSA_HUMAN 327 T I 1n2k A 309 9 9 Leukodystrophy metachromatic (MLD) ARSA_HUMAN 408 T I 1n2l A 390 52.8 34.8 Leukodystrophy metachromatic (MLD) ARSA_HUMAN 409 T I 1n2l A 391 31.8 23.2 Leukodystrophy metachromatic (MLD) ARSA_HUMAN 201 Y C 1n2l A 183 0.6 0.6 Leukodystrophy metachromatic (MLD) ARSA_HUMAN 306 Y H 1e2s P 288 4.5 4.5 Leukodystrophy metachromatic (MLD) ARSA_HUMAN 376 Y N 1e1z P 358 0.8 0.8 Leukodystrophy metachromatic (MLD) ARSA_HUMAN 429 Y S 1e2s P 411 4.3 4.3 Leukodystrophy metachromatic (MLD) ARSB_HUMAN 117 C R 1fsu A 76 2.4 2.4 Mucopolysaccharidosis type 6 (MPS6) ARSB_HUMAN 192 C R 1fsu A 151 54.2 54.2 Mucopolysaccharidosis type 6 (MPS6) ARSB_HUMAN 405 C Y 1fsu A 364 66.1 66.1 Mucopolysaccharidosis type 6 (MPS6) ARSB_HUMAN 521 C Y 1fsu A 480 3.9 3.9 Mucopolysaccharidosis type 6 (MPS6) ARSB_HUMAN 399 F L 1fsu A 358 16.9 16.9 Mucopolysaccharidosis type 6 (MPS6) ARSB_HUMAN 137 G V 1fsu A 96 54.4 54.4 Mucopolysaccharidosis type 6 (MPS6) ARSB_HUMAN 144 G R 1fsu A 103 0 0 Mucopolysaccharidosis type 6 (MPS6) ARSB_HUMAN 302 G R 1fsu A 261 2 2 Mucopolysaccharidosis type 6 (MPS6) ARSB_HUMAN 393 H P 1fsu A 352 0.9 0.9 Mucopolysaccharidosis type 6 (MPS6) ARSB_HUMAN 236 L P 1fsu A 195 0.5 0.5 Mucopolysaccharidosis type 6 (MPS6) ARSB_HUMAN 321 L P 1fsu A 280 0.2 0.2 Mucopolysaccharidosis type 6 (MPS6) ARSB_HUMAN 498 L P 1fsu A 457 0.5 0.5 Mucopolysaccharidosis type 6 (MPS6) ARSB_HUMAN 142 M I 1fsu A 101 0.5 0.5 Mucopolysaccharidosis type 6 (MPS6) ARSB_HUMAN 116 P H 1fsu A 75 5.8 5.8 Mucopolysaccharidosis type 6 (MPS6) ARSB_HUMAN 531 P R 1fsu A 490 28.6 28.6 Mucopolysaccharidosis type 6 (MPS6) ARSB_HUMAN 239 Q R 1fsu A 198 0.3 0.3 Mucopolysaccharidosis type 6 (MPS6) ARSB_HUMAN 152 R W 1fsu A 111 34.9 34.9 Mucopolysaccharidosis type 6 (MPS6) ARSB_HUMAN 160 R Q 1fsu A 119 4.8 4.8 Mucopolysaccharidosis type 6 (MPS6) ARSB_HUMAN 315 R Q 1fsu A 274 3.3 3.3 Mucopolysaccharidosis type 6 (MPS6) ARSB_HUMAN 484 R G 1fsu A 443 73.1 73.1 Mucopolysaccharidosis type 6 (MPS6) ARSB_HUMAN 95 R Q 1fsu A 54 0.3 0.3 Mucopolysaccharidosis type 6 (MPS6) ARSB_HUMAN 384 S N 1fsu A 343 19.8 19.8 Mucopolysaccharidosis type 6 (MPS6) ARSB_HUMAN 65 S F 1fsu A 24 13.1 13.1 Mucopolysaccharidosis type 6 (MPS6) ARSB_HUMAN 92 T M 1fsu A 51 0.7 0.7 Mucopolysaccharidosis type 6 (MPS6) ARSB_HUMAN 146 W L 1fsu A 105 1 1 Mucopolysaccharidosis type 6 (MPS6) ARSB_HUMAN 146 W R 1fsu A 105 1 1 Mucopolysaccharidosis type 6 (MPS6) ARSB_HUMAN 146 W S 1fsu A 105 1 1 Mucopolysaccharidosis type 6 (MPS6) ARSB_HUMAN 312 W C 1fsu A 271 22 22 Mucopolysaccharidosis type 6 (MPS6) ARSB_HUMAN 210 Y C 1fsu A 169 5.2 5.2 Mucopolysaccharidosis type 6 (MPS6) ASAP3_HUMAN 617 A T 2b0o G 221 18.8 10.3 A colorectal cancer sample ASPG_HUMAN 101 A V 1apy A 78 9.4 0 Aspartylglucosaminuria (AGU) ASPG_HUMAN 163 C S 1apy A 140 3.7 3.7 Aspartylglucosaminuria (AGU) ASPG_HUMAN 135 F S 1apy C 112 16.4 3.2 Aspartylglucosaminuria (AGU) ASPG_HUMAN 100 G E 1apy A 77 0 0 Aspartylglucosaminuria (AGU) ASPG_HUMAN 60 G D 1apy A 37 9.6 0 Aspartylglucosaminuria (AGU) ASPG_HUMAN 161 R Q 1apy C 138 50.3 47.1 Aspartylglucosaminuria (AGU) ASPG_HUMAN 72 S P 1apy C 49 62.6 20.3 Aspartylglucosaminuria (AGU) ASPG_HUMAN 306 C R 1apz D 101 1.3 0.3 Aspartylglucosaminuria (AGU) ASPG_HUMAN 252 G E 1apy B 47 0 0 Aspartylglucosaminuria (AGU) ASPG_HUMAN 252 G R 1apy B 47 0 0 Aspartylglucosaminuria (AGU) ASPG_HUMAN 302 G R 1apy B 97 0.1 0.1 Aspartylglucosaminuria (AGU) ASPG_HUMAN 257 T I 1apy D 52 23.2 2.5 Aspartylglucosaminuria (AGU) ASSY_HUMAN 118 A T 2nz2 A 119 17.4 17.4 Citrullinemia type 1 (CTLN1) ASSY_HUMAN 192 A V 2nz2 A 193 31.7 31.7 Citrullinemia type 1 (CTLN1) ASSY_HUMAN 202 A E 2nz2 A 203 21.7 21.5 Citrullinemia type 1 (CTLN1) ASSY_HUMAN 19 C R 2nz2 A 20 0.1 0.1 Citrullinemia type 1 (CTLN1) ASSY_HUMAN 124 D N 2nz2 A 125 21.2 21.2 Citrullinemia type 1 (CTLN1) ASSY_HUMAN 296 D G 2nz2 A 297 17.8 0.1 Citrullinemia type 1 (CTLN1) ASSY_HUMAN 191 E K 2nz2 A 192 25.8 25.8 Citrullinemia type 1 (CTLN1) ASSY_HUMAN 191 E Q 2nz2 A 192 25.8 25.8 Citrullinemia type 1 (CTLN1) ASSY_HUMAN 270 E Q 2nz2 A 271 5.3 5.3 Citrullinemia type 1 (CTLN1) ASSY_HUMAN 283 E K 2nz2 A 284 0 0 Citrullinemia type 1 (CTLN1) ASSY_HUMAN 117 G D 2nz2 A 118 20.2 20.2 Citrullinemia type 1 (CTLN1) ASSY_HUMAN 117 G S 2nz2 A 118 20.2 20.2 Citrullinemia type 1 (CTLN1) ASSY_HUMAN 14 G S 2nz2 A 15 45.6 45.6 Citrullinemia type 1 (CTLN1) ASSY_HUMAN 280 G R 2nz2 A 281 0 0 Citrullinemia type 1 (CTLN1) ASSY_HUMAN 324 G S 2nz2 A 325 7 7 Citrullinemia type 1 (CTLN1) ASSY_HUMAN 324 G V 2nz2 A 325 7 7 Citrullinemia type 1 (CTLN1) ASSY_HUMAN 347 G R 2nz2 A 348 6.9 6.9 Citrullinemia type 1 (CTLN1) ASSY_HUMAN 362 G V 2nz2 A 363 14.3 0 Citrullinemia type 1 (CTLN1) ASSY_HUMAN 390 G R 2nz2 A 391 42.2 3.7 Citrullinemia type 1 (CTLN1) ASSY_HUMAN 277 K T 2nz2 A 278 71.2 7.1 Citrullinemia type 1 (CTLN1) ASSY_HUMAN 310 K Q 2nz2 A 311 1.3 0 Citrullinemia type 1 (CTLN1) ASSY_HUMAN 310 K R 2nz2 A 311 1.3 0 Citrullinemia type 1 (CTLN1) ASSY_HUMAN 160 L P 2nz2 A 161 2.1 2.1 Citrullinemia type 1 (CTLN1) ASSY_HUMAN 206 L P 2nz2 A 207 0 0 Citrullinemia type 1 (CTLN1) ASSY_HUMAN 302 M V 2nz2 A 303 9.1 4.1 Citrullinemia type 1 (CTLN1) ASSY_HUMAN 96 P H 2nz2 A 97 3.8 3.8 Citrullinemia type 1 (CTLN1) ASSY_HUMAN 96 P S 2nz2 A 97 3.8 3.8 Citrullinemia type 1 (CTLN1) ASSY_HUMAN 40 Q L 2nz2 A 41 17.8 17.8 Citrullinemia type 1 (CTLN1) ASSY_HUMAN 108 R L 2nz2 A 109 58 58 Citrullinemia type 1 (CTLN1) ASSY_HUMAN 127 R Q 2nz2 A 128 3.6 3.6 Citrullinemia type 1 (CTLN1) ASSY_HUMAN 127 R W 2nz2 A 128 3.6 3.6 Citrullinemia type 1 (CTLN1) ASSY_HUMAN 157 R C 2nz2 A 158 36.2 30.2 Citrullinemia type 1 (CTLN1) ASSY_HUMAN 157 R H 2nz2 A 158 36.2 30.2 Citrullinemia type 1 (CTLN1) ASSY_HUMAN 265 R C 2nz2 A 266 29.2 19 Citrullinemia type 1 (CTLN1) ASSY_HUMAN 265 R H 2nz2 A 266 29.2 19 Citrullinemia type 1 (CTLN1) ASSY_HUMAN 272 R C 2nz2 A 273 19.8 11.2 Citrullinemia type 1 (CTLN1) ASSY_HUMAN 279 R Q 2nz2 A 280 7.5 0.9 Citrullinemia type 1 (CTLN1) ASSY_HUMAN 304 R W 2nz2 A 305 73.7 14.6 Citrullinemia type 1 (CTLN1) ASSY_HUMAN 307 R C 2nz2 A 308 29.9 3.3 Citrullinemia type 1 (CTLN1) ASSY_HUMAN 363 R G 2nz2 A 364 40.4 0.3 Citrullinemia type 1 (CTLN1) ASSY_HUMAN 363 R L 2nz2 A 364 40.4 0.3 Citrullinemia type 1 (CTLN1) ASSY_HUMAN 363 R Q 2nz2 A 364 40.4 0.3 Citrullinemia type 1 (CTLN1) ASSY_HUMAN 363 R W 2nz2 A 364 40.4 0.3 Citrullinemia type 1 (CTLN1) ASSY_HUMAN 86 R C 2nz2 A 87 48.4 12.9 Citrullinemia type 1 (CTLN1) ASSY_HUMAN 86 R H 2nz2 A 87 48.4 12.9 Citrullinemia type 1 (CTLN1) ASSY_HUMAN 95 R S 2nz2 A 96 13 13 Citrullinemia type 1 (CTLN1) ASSY_HUMAN 180 S N 2nz2 A 181 46.5 46.5 Citrullinemia type 1 (CTLN1) ASSY_HUMAN 18 S L 2nz2 A 19 0.3 0.3 Citrullinemia type 1 (CTLN1) ASSY_HUMAN 341 S F 2nz2 A 342 18.8 11.1 Citrullinemia type 1 (CTLN1) ASSY_HUMAN 79 S P 2nz2 A 80 0.3 0.3 Citrullinemia type 1 (CTLN1) ASSY_HUMAN 119 T I 2nz2 A 120 51.8 51.8 Citrullinemia type 1 (CTLN1) ASSY_HUMAN 284 T I 2nz2 A 285 3.9 3.9 Citrullinemia type 1 (CTLN1) ASSY_HUMAN 389 T I 2nz2 A 390 50 21.9 Citrullinemia type 1 (CTLN1) ASSY_HUMAN 263 V M 2nz2 A 264 0.7 0.7 Citrullinemia type 1 (CTLN1) ASSY_HUMAN 269 V M 2nz2 A 270 39.9 2.1 Citrullinemia type 1 (CTLN1) ASSY_HUMAN 345 V G 2nz2 A 346 0.5 0.5 Citrullinemia type 1 (CTLN1) ASSY_HUMAN 69 V A 2nz2 A 70 0 0 Citrullinemia type 1 (CTLN1) ASSY_HUMAN 179 W R 2nz2 A 180 9 9 Citrullinemia type 1 (CTLN1) ASSY_HUMAN 190 Y D 2nz2 A 191 0 0 Citrullinemia type 1 (CTLN1) ASSY_HUMAN 291 Y S 2nz2 A 292 19.9 15.5 Citrullinemia type 1 (CTLN1) ASSY_HUMAN 359 Y D 2nz2 A 360 48.9 15.8 Citrullinemia type 1 (CTLN1) ATP7A_HUMAN 629 A P 1yjt A 69 1.3 1.3 Menkes disease (MNKD) ATP7A_HUMAN 853 G R 2kij A 53 43.3 43.3 Menkes disease (MNKD) ATP7A_HUMAN 860 G V 2kij A 60 4.9 4.9 Menkes disease (MNKD) ATP7A_HUMAN 876 G E 2kij A 76 61.5 61.5 Menkes disease (MNKD) ATP7A_HUMAN 876 G R 2kij A 76 61.5 61.5 Menkes disease (MNKD) ATP7A_HUMAN 873 L R 2kij A 73 42.6 42.6 Menkes disease (MNKD) ATP7A_HUMAN 924 Q R 2kij A 124 78 78 Menkes disease (MNKD) ATP7A_HUMAN 844 R H 2kij A 44 58.4 58.4 Menkes disease (MNKD) ATP7A_HUMAN 1118 G D 2kmv A 72 7.2 7.2 Menkes disease (MNKD) ATP7A_HUMAN 1100 L P 2kmv A 54 17.8 17.8 Menkes disease (MNKD) ATP7B_HUMAN 1063 A V 2arf A 32 11.6 11.6 Wilson disease (WD) ATP7B_HUMAN 1065 A P 2arf A 34 20.1 20.1 Wilson disease (WD) ATP7B_HUMAN 1168 A S 2arf A 137 33.2 33.2 Wilson disease (WD) ATP7B_HUMAN 1183 A G 2arf A 152 0.3 0.3 Wilson disease (WD) ATP7B_HUMAN 1183 A T 2arf A 152 0.3 0.3 Wilson disease (WD) ATP7B_HUMAN 1104 C F 2arf A 73 10.1 10.1 Wilson disease (WD) ATP7B_HUMAN 1104 C Y 2arf A 73 10.1 10.1 Wilson disease (WD) ATP7B_HUMAN 1164 D N 2arf A 133 71.2 71.2 Wilson disease (WD) ATP7B_HUMAN 1064 E A 2koy A 33 4.3 4.3 Wilson disease (WD) ATP7B_HUMAN 1064 E K 2koy A 33 4.3 4.3 Wilson disease (WD) ATP7B_HUMAN 1068 E G 2arf A 37 69.8 69.8 Wilson disease (WD) ATP7B_HUMAN 1173 E G 2koy A 118 34.9 34.9 Wilson disease (WD) ATP7B_HUMAN 1173 E K 2koy A 118 34.9 34.9 Wilson disease (WD) ATP7B_HUMAN 1094 F L 2arf A 63 74.1 74.1 Wilson disease (WD) ATP7B_HUMAN 1061 G E 2arf A 30 0.9 0.9 Wilson disease (WD) ATP7B_HUMAN 1089 G E 2koy A 58 33.8 33.8 Wilson disease (WD) ATP7B_HUMAN 1089 G V 2koy A 58 33.8 33.8 Wilson disease (WD) ATP7B_HUMAN 1099 G S 2koy A 68 71.2 71.2 Wilson disease (WD) ATP7B_HUMAN 1101 G R 2koy A 70 15.6 15.6 Wilson disease (WD) ATP7B_HUMAN 1111 G D 2arf A 80 50.6 50.6 Wilson disease (WD) ATP7B_HUMAN 1149 G A 2arf A 118 2.1 2.1 Wilson disease (WD) ATP7B_HUMAN 1176 G E 2koy A 121 30.3 30.3 Wilson disease (WD) ATP7B_HUMAN 1176 G R 2koy A 121 30.3 30.3 Wilson disease (WD) ATP7B_HUMAN 1186 G C 2arf A 155 23.1 23.1 Wilson disease (WD) ATP7B_HUMAN 1186 G S 2arf A 155 23.1 23.1 Wilson disease (WD) ATP7B_HUMAN 1069 H Q 2arf A 38 21.7 21.7 Wilson disease (WD) ATP7B_HUMAN 1102 I T 2arf A 71 49.6 49.6 Wilson disease (WD) ATP7B_HUMAN 1148 I T 2arf A 117 20 20 Wilson disease (WD) ATP7B_HUMAN 1043 L P 2arf A 12 55.8 55.8 Wilson disease (WD) ATP7B_HUMAN 1083 L F 2koy A 52 43.4 43.4 Wilson disease (WD) ATP7B_HUMAN 1169 M T 2koy A 114 29.1 29.1 Wilson disease (WD) ATP7B_HUMAN 1169 M V 2koy A 114 29.1 29.1 Wilson disease (WD) ATP7B_HUMAN 1052 P L 2arf A 21 34.8 34.8 Wilson disease (WD) ATP7B_HUMAN 1098 P R 2arf A 67 80.8 80.8 Wilson disease (WD) ATP7B_HUMAN 1095 Q P 2arf A 64 48 48 Wilson disease (WD) ATP7B_HUMAN 1142 Q H 2koy A 87 50.4 50.4 Wilson disease (WD) ATP7B_HUMAN 1038 R K 2arf A 7 59.5 59.5 Wilson disease (WD) ATP7B_HUMAN 1041 R P 2arf A 10 58.4 58.4 Wilson disease (WD) ATP7B_HUMAN 1041 R W 2arf A 10 58.4 58.4 Wilson disease (WD) ATP7B_HUMAN 1151 R H 2koy A 96 15.2 15.2 Wilson disease (WD) ATP7B_HUMAN 1106 V D 2arf A 75 1 1 Wilson disease (WD) ATP7B_HUMAN 1106 V I 2arf A 75 1 1 Wilson disease (WD) ATP7B_HUMAN 1146 V M 2arf A 115 4.2 4.2 Wilson disease (WD) ATP7B_HUMAN 1153 W C 2arf A 122 9.4 9.4 Wilson disease (WD) ATP7B_HUMAN 1153 W R 2arf A 122 9.4 9.4 Wilson disease (WD) ATP7B_HUMAN 486 A S 2ew9 A 2 38.5 38.5 Wilson disease (WD) ATP7B_HUMAN 604 A P 2ew9 A 120 1.1 1.1 Wilson disease (WD) ATP7B_HUMAN 591 G D 2ew9 A 107 7.1 7.1 Wilson disease (WD) ATP7B_HUMAN 626 G A 2ew9 A 142 65.6 65.6 Wilson disease (WD) ATP7B_HUMAN 492 L S 2ew9 A 8 1.1 1.1 Wilson disease (WD) ATP7B_HUMAN 616 R Q 2ew9 A 132 84 84 Wilson disease (WD) ATP7B_HUMAN 616 R W 2ew9 A 132 84 84 Wilson disease (WD) ATP7B_HUMAN 536 V A 2ew9 A 52 72.7 72.7 Wilson disease (WD) ATP7B_HUMAN 532 Y H 2ew9 A 48 3.9 3.9 Wilson disease (WD) ATS13_HUMAN 508 C Y 3ghm A 224 4 4 Congenital thrombotic thrombocytopenic purpura (TTP) ATS13_HUMAN 673 I F 3ghn A 389 0.9 0.9 Congenital thrombotic thrombocytopenic purpura (TTP) ATS13_HUMAN 398 R H 3ghm A 114 10.8 10.8 Congenital thrombotic thrombocytopenic purpura (TTP) ATS13_HUMAN 528 R G 3ghn A 244 29.7 29.7 Congenital thrombotic thrombocytopenic purpura (TTP) ATS13_HUMAN 390 W C 3ghn A 106 24.5 24.5 Congenital thrombotic thrombocytopenic purpura (TTP) ATTY_HUMAN 362 G V 3dyd A 345 4.4 4.4 Tyrosinemia type 2 (TYRO2) AUHM_HUMAN 240 A V 2zqq A 173 2.3 1.1 3-methylglutaconic aciduria type 1 (MGA1) B3AT_HUMAN 285 A D 1hyn P 285 0 0 Hereditary spherocytosis type 4 (HS4) B3AT_HUMAN 90 E K 1hyn S 90 64.2 64.2 Hereditary spherocytosis type 4 (HS4) B3AT_HUMAN 130 G R 1hyn R 130 16.9 5.3 Hereditary spherocytosis type 4 (HS4) B3AT_HUMAN 147 P S 1hyn Q 147 72.9 12.4 Hereditary spherocytosis type 4 (HS4) B3AT_HUMAN 327 P R 1hyn R 327 37.8 25.4 Hereditary spherocytosis type 4 (HS4) BARD1_HUMAN 761 S N 2r1z A 193 33.7 33.7 Uterine cancer BARD1_HUMAN 695 V L 3fa2 A 136 0.1 0.1 Ovarian cancer BAX_HUMAN 108 G V 1f16 A 108 0.5 0.5 Burkitt lymphoma BAX_HUMAN 67 G R 1f16 A 67 0 0 T-cell acute lymphoblastic leukemia BCL2_HUMAN 93 V I 1g5m A 52 0 0 Non-Hodgkin lymphoma BGH3_HUMAN 546 A D 2vxp A 45 1 1 Corneal dystrophy lattice type 1 (CDL1) BGH3_HUMAN 546 A T 2vxp A 45 1 1 Lattice corneal dystrophy type 3A (CDL3A) BGH3_HUMAN 540 F S 2vxp A 39 0.1 0.1 Lattice corneal dystrophy type 3A (CDL3A) BGH3_HUMAN 623 G D 1x3b A 129 5.2 5.2 Corneal dystrophy lattice type 1 (CDL1) BGH3_HUMAN 572 H R 1x3b A 78 1.9 1.9 Corneal dystrophy lattice type 1 (CDL1) BGH3_HUMAN 626 H P 2vxp A 125 0 0 Corneal dystrophy lattice type 1 (CDL1) BGH3_HUMAN 626 H R 2vxp A 125 0 0 Corneal dystrophy lattice type 1 (CDL1) BGH3_HUMAN 509 L R 1x3b A 15 0 0 Epithelial basement membrane corneal dystrophy (EBMD) BGH3_HUMAN 518 L P 2vxp A 17 2.6 2.6 Corneal dystrophy lattice type 1 (CDL1) BGH3_HUMAN 518 L R 2vxp A 17 2.6 2.6 Corneal dystrophy lattice type 1 (CDL1) BGH3_HUMAN 527 L R 1x3b A 33 6 6 Corneal dystrophy lattice type 1 (CDL1) BGH3_HUMAN 569 L R 2vxp A 68 2.9 2.9 Corneal dystrophy lattice type 1 (CDL1) BGH3_HUMAN 622 N K 2vxp A 121 3.3 3.3 Lattice corneal dystrophy type 3A (CDL3A) BGH3_HUMAN 551 P Q 1x3b A 57 42.4 42.4 Corneal dystrophy lattice type 1 (CDL1) BGH3_HUMAN 555 R Q 1x3b A 61 36.3 36.3 Corneal dystrophy Thiel-Behnke type (CDTB) BGH3_HUMAN 555 R W 1x3b A 61 36.3 36.3 Corneal dystrophy Groenouw type 1 (CDGG1) BGH3_HUMAN 538 T R 1x3b A 44 0 0 Corneal dystrophy lattice type 1 (CDL1) BGH3_HUMAN 505 V D 1x3b A 11 0 0 Corneal dystrophy lattice type 1 (CDL1) BGLR_HUMAN 354 A V 3hn3 B 334 5.4 5.4 Mucopolysaccharidosis type 7 (MPS7) BGLR_HUMAN 619 A V 1bhg A 599 0 0 Mucopolysaccharidosis type 7 (MPS7) BGLR_HUMAN 38 C G 3hn3 D 18 19.3 8.2 Mucopolysaccharidosis type 7 (MPS7) BGLR_HUMAN 152 D G 1bhg A 132 21.8 21.8 Mucopolysaccharidosis type 7 (MPS7) BGLR_HUMAN 362 D N 3hn3 D 342 21.3 10.5 Mucopolysaccharidosis type 7 (MPS7) BGLR_HUMAN 150 E K 3hn3 D 130 22.7 22.7 Mucopolysaccharidosis type 7 (MPS7) BGLR_HUMAN 540 E K 1bhg B 520 4.8 4.8 Mucopolysaccharidosis type 7 (MPS7) BGLR_HUMAN 136 G R 3hn3 A 116 6.7 6.7 Mucopolysaccharidosis type 7 (MPS7) BGLR_HUMAN 572 G D 1bhg A 552 3.8 3.8 Mucopolysaccharidosis type 7 (MPS7) BGLR_HUMAN 607 G A 1bhg A 587 0 0 Mucopolysaccharidosis type 7 (MPS7) BGLR_HUMAN 351 H Y 3hn3 E 331 6.3 6.3 Mucopolysaccharidosis type 7 (MPS7) BGLR_HUMAN 350 K N 1bhg A 330 5 5 Mucopolysaccharidosis type 7 (MPS7) BGLR_HUMAN 606 K N 3hn3 B 586 0.2 0.2 Mucopolysaccharidosis type 7 (MPS7) BGLR_HUMAN 176 L F 1bhg A 156 0.7 0.7 Mucopolysaccharidosis type 7 (MPS7) BGLR_HUMAN 243 L P 3hn3 A 223 6.9 6.9 Mucopolysaccharidosis type 7 (MPS7) BGLR_HUMAN 339 N S 1bhg A 319 11.1 11.1 Mucopolysaccharidosis type 7 (MPS7) BGLR_HUMAN 148 P S 3hn3 D 128 2.3 2.3 Mucopolysaccharidosis type 7 (MPS7) BGLR_HUMAN 30 P S 3hn3 B 10 7.4 7.4 Mucopolysaccharidosis type 7 (MPS7) BGLR_HUMAN 364 P L 3hn3 D 344 70 4.1 Mucopolysaccharidosis type 7 (MPS7) BGLR_HUMAN 408 P S 1bhg B 388 0.3 0.3 Mucopolysaccharidosis type 7 (MPS7) BGLR_HUMAN 415 P L 1bhg A 395 55.7 55.7 Mucopolysaccharidosis type 7 (MPS7) BGLR_HUMAN 216 R W 3hn3 A 196 3.1 3.1 Mucopolysaccharidosis type 7 (MPS7) BGLR_HUMAN 374 R C 1bhg A 354 50.9 34.6 Mucopolysaccharidosis type 7 (MPS7) BGLR_HUMAN 382 R C 3hn3 B 362 0.1 0.1 Mucopolysaccharidosis type 7 (MPS7) BGLR_HUMAN 382 R H 3hn3 B 362 0.1 0.1 Mucopolysaccharidosis type 7 (MPS7) BGLR_HUMAN 435 R P 3hn3 A 415 13.9 13.9 Mucopolysaccharidosis type 7 (MPS7) BGLR_HUMAN 477 R W 1bhg B 457 6.3 6.3 Mucopolysaccharidosis type 7 (MPS7) BGLR_HUMAN 577 R L 1bhg B 557 12 12 Mucopolysaccharidosis type 7 (MPS7) BGLR_HUMAN 611 R W 1bhg A 591 11.5 11.5 Mucopolysaccharidosis type 7 (MPS7) BGLR_HUMAN 52 S F 3hn3 D 32 6.2 6.2 Mucopolysaccharidosis type 7 (MPS7) BGLR_HUMAN 627 W C 3hn3 D 607 34.7 34.7 Mucopolysaccharidosis type 7 (MPS7) BGLR_HUMAN 320 Y C 3hn3 E 300 2.7 2.7 Mucopolysaccharidosis type 7 (MPS7) BGLR_HUMAN 320 Y S 3hn3 E 300 2.7 2.7 Mucopolysaccharidosis type 7 (MPS7) BGLR_HUMAN 495 Y C 1bhg B 475 33.9 33.9 Mucopolysaccharidosis type 7 (MPS7) BGLR_HUMAN 508 Y C 3hn3 A 488 45.7 41.4 Mucopolysaccharidosis type 7 (MPS7) BGLR_HUMAN 626 Y H 1bhg A 606 0 0 Mucopolysaccharidosis type 7 (MPS7) BIN1_HUMAN 151 D N 2fic A 161 40.1 40.1 Centronuclear myopathy autosomal recessive (ARCNM) BMP6_HUMAN 476 P L 2r52 A 106 4.5 4.5 A colorectal cancer sample BMPR2_HUMAN 117 C Y 2hlq A 86 16.4 16.4 Primary pulmonary hypertension (PPH1) BMPR2_HUMAN 118 C W 2hlq A 87 0 0 Primary pulmonary hypertension (PPH1) BMPR2_HUMAN 123 C R 2hlq A 92 8.9 8.9 Primary pulmonary hypertension (PPH1) BMPR2_HUMAN 123 C S 2hlq A 92 8.9 8.9 Primary pulmonary hypertension (PPH1) BMPR2_HUMAN 60 C Y 2hlq A 29 3.4 3.4 Primary pulmonary hypertension (PPH1) BMPR2_HUMAN 82 Q H 2hlq A 51 6.4 6.4 Primary pulmonary hypertension (PPH1) BMPR2_HUMAN 347 C Y 3g2f B 159 0 0 Primary pulmonary hypertension (PPH1) BMPR2_HUMAN 420 C R 3g2f B 232 0 0 Primary pulmonary hypertension (PPH1) BMPR2_HUMAN 483 C R 3g2f B 295 0 0 Primary pulmonary hypertension (PPH1) BMPR2_HUMAN 485 D G 3g2f B 297 34.1 34.1 Primary pulmonary hypertension (PPH1) BMPR2_HUMAN 512 K T 3g2f B 324 95.3 95.3 Primary pulmonary hypertension (PPH1) BMPR2_HUMAN 491 R Q 3g2f B 303 5.6 5.6 Primary pulmonary hypertension (PPH1) BMPR2_HUMAN 491 R W 3g2f B 303 5.6 5.6 Primary pulmonary hypertension (PPH1) BMR1A_HUMAN 124 C R 2h62 C 101 16.6 16.6 Juvenile polyposis syndrome (JPS) BMR1A_HUMAN 130 C R 2qj9 C 113 8.1 8.1 Juvenile polyposis syndrome (JPS) BMR1A_HUMAN 82 C Y 1es7 B 28 0 0 Juvenile polyposis syndrome (JPS) BMR1A_HUMAN 58 F Y 2qjb D 41 57.8 57.8 A renal clear cell carcinoma sample BMR1A_HUMAN 62 Y D 1rew C 45 28.2 28.2 Juvenile polyposis syndrome (JPS) BRCA1_HUMAN 61 C G 1jm7 A 61 0 0 Breast cancer (BC) BRCA1_HUMAN 64 C G 1jm7 A 64 50.8 50.8 Breast cancer (BC) BRCA1_HUMAN 10 E K 1jm7 A 10 52.5 44.2 Breast cancer (BC) BRCA1_HUMAN 23 E K 1jm7 A 23 24 22.2 Breast cancer (BC) BRCA1_HUMAN 22 L S 1jm7 A 22 1.5 0.1 Breast cancer (BC) BRCA1_HUMAN 30 L F 1jm7 A 30 26.5 26.5 A breast cancer sample BRCA1_HUMAN 71 R K 1jm7 A 71 98.1 98.1 Breast cancer (BC) BRCA1_HUMAN 1708 A E 3pxe B 63 0 0 Breast cancer (BC) BRCA1_HUMAN 1697 C R 1t29 A 52 1.8 0 Ovarian cancer BRCA1_HUMAN 1692 D N 1t29 A 47 39.5 27.7 Ovarian cancer BRCA1_HUMAN 1690 K Q 1t29 A 45 43.6 16.5 Some patients with sporadic breast cancer BRCA1_HUMAN 1786 L P 3pxd A 141 16.8 16.8 Familial breast-ovarian cancer type 1 (BROVCA1) BRCA1_HUMAN 1775 M R 1t29 A 130 6.2 0.3 Breast cancer (BC) BRCA1_HUMAN 1749 P R 2ing X 103 0 0 Ovarian cancer BRCA1_HUMAN 1776 P S 1oqa A 23 8 8 Ovarian cancer BRCA1_HUMAN 1812 P S 1y98 A 167 25 25 Ovarian cancer BRCA1_HUMAN 1699 R W 1t15 A 54 21 0 Ovarian cancer BRD3_HUMAN 36 T N 2yw5 A 19 1.7 1.7 A renal clear cell carcinoma sample BRDT_HUMAN 89 A V 2rfj A 71 78 78 A gastric adenocarcinoma sample BTK_HUMAN 154 C S 1b55 B 153 13.9 13.9 X-linked agammaglobulinemia (XLA) BTK_HUMAN 155 C G 1b55 B 154 13.2 13.2 X-linked agammaglobulinemia (XLA) BTK_HUMAN 155 C R 1b55 B 154 13.2 13.2 X-linked agammaglobulinemia (XLA) BTK_HUMAN 25 F S 1btk A 24 18.5 18.5 X-linked agammaglobulinemia (XLA) BTK_HUMAN 61 I N 2z0p C 60 0.1 0.1 X-linked agammaglobulinemia (XLA) BTK_HUMAN 12 K R 1bwn A 11 6.9 6.9 X-linked agammaglobulinemia (XLA) BTK_HUMAN 19 K E 1btk B 18 44.9 44.9 X-linked agammaglobulinemia (XLA) BTK_HUMAN 27 K R 2z0p C 26 38.8 2 X-linked agammaglobulinemia (XLA) BTK_HUMAN 11 L P 2z0p D 10 0.9 0.9 X-linked agammaglobulinemia (XLA) BTK_HUMAN 127 Q H 2z0p C 126 24.6 24.6 X-linked agammaglobulinemia (XLA) BTK_HUMAN 28 R C 1btk A 27 0 0 X-linked agammaglobulinemia (XLA) BTK_HUMAN 28 R H 1btk A 27 0 0 X-linked agammaglobulinemia (XLA) BTK_HUMAN 28 R P 1btk A 27 0 0 X-linked agammaglobulinemia (XLA) BTK_HUMAN 115 S F 1b55 A 114 0 0 X-linked agammaglobulinemia (XLA) BTK_HUMAN 14 S F 1bwn B 13 12.6 12.6 X-linked agammaglobulinemia (XLA) BTK_HUMAN 117 T P 1b55 B 116 0.9 0.9 X-linked agammaglobulinemia (XLA) BTK_HUMAN 33 T P 1bwn B 32 13.8 13.8 X-linked agammaglobulinemia (XLA) BTK_HUMAN 113 V D 1bwn B 112 0.3 0.3 X-linked agammaglobulinemia (XLA) BTK_HUMAN 64 V D 1bwn B 63 0.4 0.4 X-linked agammaglobulinemia (XLA) BTK_HUMAN 64 V F 1bwn B 63 0.4 0.4 X-linked agammaglobulinemia (XLA) BTK_HUMAN 39 Y S 1b55 B 38 3.9 3.9 X-linked agammaglobulinemia (XLA) BTK_HUMAN 40 Y C 2z0p C 39 6 6 X-linked agammaglobulinemia (XLA) BTK_HUMAN 40 Y N 2z0p C 39 6 6 X-linked agammaglobulinemia (XLA) BTK_HUMAN 508 A D 1k2p A 112 0 0 X-linked agammaglobulinemia (XLA) BTK_HUMAN 523 A E 3gen A 147 0 0 X-linked agammaglobulinemia (XLA) BTK_HUMAN 582 A V 3ocs A 191 5.4 5.4 X-linked agammaglobulinemia (XLA) BTK_HUMAN 607 A D 3ocs A 216 24.5 24.5 X-linked agammaglobulinemia (XLA) BTK_HUMAN 622 A P 3k54 A 246 0.1 0.1 X-linked agammaglobulinemia (XLA) BTK_HUMAN 502 C F 3k54 A 126 0 0 X-linked agammaglobulinemia (XLA) BTK_HUMAN 502 C W 3k54 A 126 0 0 X-linked agammaglobulinemia (XLA) BTK_HUMAN 506 C R 1k2p A 110 0 0 X-linked agammaglobulinemia (XLA) BTK_HUMAN 506 C Y 1k2p A 110 0 0 X-linked agammaglobulinemia (XLA) BTK_HUMAN 633 C Y 1k2p A 237 0 0 X-linked agammaglobulinemia (XLA) BTK_HUMAN 521 D G 3gen A 145 7.1 7.1 X-linked agammaglobulinemia (XLA) BTK_HUMAN 521 D H 3gen A 145 7.1 7.1 X-linked agammaglobulinemia (XLA) BTK_HUMAN 521 D N 3gen A 145 7.1 7.1 X-linked agammaglobulinemia (XLA) BTK_HUMAN 445 E D 3piz A 60 7.3 7.3 X-linked agammaglobulinemia (XLA) BTK_HUMAN 567 E K 3pj2 A 182 10.2 10.2 X-linked agammaglobulinemia (XLA) BTK_HUMAN 589 E D 3p08 A 197 0.8 0.8 X-linked agammaglobulinemia (XLA) BTK_HUMAN 589 E G 3p08 A 197 0.8 0.8 X-linked agammaglobulinemia (XLA) BTK_HUMAN 589 E K 3p08 A 197 0.8 0.8 X-linked agammaglobulinemia (XLA) BTK_HUMAN 559 F S 3gen A 183 7.6 7.6 X-linked agammaglobulinemia (XLA) BTK_HUMAN 583 F S 3k54 A 207 0 0 X-linked agammaglobulinemia (XLA) BTK_HUMAN 644 F L 3oct A 253 0.5 0.5 X-linked agammaglobulinemia (XLA) BTK_HUMAN 644 F S 3oct A 253 0.5 0.5 X-linked agammaglobulinemia (XLA) BTK_HUMAN 414 G R 3piy A 29 6.5 6.5 X-linked agammaglobulinemia (XLA) BTK_HUMAN 462 G D 3k54 A 86 0 0 X-linked agammaglobulinemia (XLA) BTK_HUMAN 462 G V 3k54 A 86 0 0 X-linked agammaglobulinemia (XLA) BTK_HUMAN 594 G E 1k2p A 198 0 0 X-linked agammaglobulinemia (XLA) BTK_HUMAN 594 G R 1k2p A 198 0 0 X-linked agammaglobulinemia (XLA) BTK_HUMAN 613 G D 3pix A 228 40.8 40.8 X-linked agammaglobulinemia (XLA) BTK_HUMAN 429 I N 3gen A 53 0 0 X-linked agammaglobulinemia (XLA) BTK_HUMAN 430 K E 3pix A 45 0 0 X-linked agammaglobulinemia (XLA) BTK_HUMAN 430 K R 3pix A 45 0 0 X-linked agammaglobulinemia (XLA) BTK_HUMAN 408 L P 1k2p A 12 13.9 13.9 X-linked agammaglobulinemia (XLA) BTK_HUMAN 512 L P 3oct A 121 0 0 X-linked agammaglobulinemia (XLA) BTK_HUMAN 512 L Q 3oct A 121 0 0 X-linked agammaglobulinemia (XLA) BTK_HUMAN 518 L R 1k2p A 122 7.1 7.1 X-linked agammaglobulinemia (XLA) BTK_HUMAN 542 L P 3p08 A 150 8.6 0 X-linked agammaglobulinemia (XLA) BTK_HUMAN 647 L P 3gen A 271 0 0 X-linked agammaglobulinemia (XLA) BTK_HUMAN 652 L P 3pix A 267 36.5 36.5 X-linked agammaglobulinemia (XLA) BTK_HUMAN 477 M R 1k2p A 81 1.1 1.1 X-linked agammaglobulinemia (XLA) BTK_HUMAN 509 M I 1k2p A 113 0.4 0.4 X-linked agammaglobulinemia (XLA) BTK_HUMAN 509 M V 1k2p A 113 0.4 0.4 X-linked agammaglobulinemia (XLA) BTK_HUMAN 587 M L 3k54 A 211 0 0 X-linked agammaglobulinemia (XLA) BTK_HUMAN 630 M K 1k2p A 234 0 0 X-linked agammaglobulinemia (XLA) BTK_HUMAN 630 M T 1k2p A 234 0 0 X-linked agammaglobulinemia (XLA) BTK_HUMAN 526 N K 3piy A 141 4.8 4.8 X-linked agammaglobulinemia (XLA) BTK_HUMAN 619 P A 1k2p A 223 0.4 0.4 X-linked agammaglobulinemia (XLA) BTK_HUMAN 619 P S 1k2p A 223 0.4 0.4 X-linked agammaglobulinemia (XLA) BTK_HUMAN 619 P T 1k2p A 223 0.4 0.4 X-linked agammaglobulinemia (XLA) BTK_HUMAN 520 R Q 3oct A 129 17.9 17.9 X-linked agammaglobulinemia (XLA) BTK_HUMAN 525 R G 3p08 B 133 36.1 24.1 X-linked agammaglobulinemia (XLA) BTK_HUMAN 525 R P 3p08 B 133 36.1 24.1 X-linked agammaglobulinemia (XLA) BTK_HUMAN 525 R Q 3p08 B 133 36.1 24.1 X-linked agammaglobulinemia (XLA) BTK_HUMAN 544 R G 3piy A 159 16.6 16.6 X-linked agammaglobulinemia (XLA) BTK_HUMAN 544 R K 3piy A 159 16.6 16.6 X-linked agammaglobulinemia (XLA) BTK_HUMAN 562 R P 3p08 B 170 9.8 5.5 X-linked agammaglobulinemia (XLA) BTK_HUMAN 562 R W 3p08 B 170 9.8 5.5 X-linked agammaglobulinemia (XLA) BTK_HUMAN 641 R C 1k2p A 245 2.1 2.1 X-linked agammaglobulinemia (XLA) BTK_HUMAN 641 R H 1k2p A 245 2.1 2.1 X-linked agammaglobulinemia (XLA) BTK_HUMAN 578 S Y 1k2p A 182 5.4 5.4 X-linked agammaglobulinemia (XLA) BTK_HUMAN 592 S P 1k2p A 196 3.9 3.9 X-linked agammaglobulinemia (XLA) BTK_HUMAN 535 V F 1k2p A 139 0 0 X-linked agammaglobulinemia (XLA) BTK_HUMAN 626 V G 3p08 B 234 0.1 0.1 X-linked agammaglobulinemia (XLA) BTK_HUMAN 563 W L 1k2p A 167 6.4 6.4 X-linked agammaglobulinemia (XLA) BTK_HUMAN 581 W R 3oct A 190 0 0 X-linked agammaglobulinemia (XLA) BTK_HUMAN 418 Y H 1k2p A 22 3.4 3.4 X-linked agammaglobulinemia (XLA) BTK_HUMAN 476 Y D 3pix A 91 18.7 18.7 X-linked agammaglobulinemia (XLA) BTK_HUMAN 598 Y C 1k2p A 202 5.6 5.6 X-linked agammaglobulinemia (XLA) BTK_HUMAN 308 D E 2ge9 A 40 33.5 33.5 X-linked agammaglobulinemia (XLA) BTK_HUMAN 302 G E 2ge9 A 34 11.5 11.5 X-linked agammaglobulinemia (XLA) BTK_HUMAN 302 G R 2ge9 A 34 11.5 11.5 X-linked agammaglobulinemia (XLA) BTK_HUMAN 362 H Q 2ge9 A 94 77.8 77.8 X-linked agammaglobulinemia (XLA) BTK_HUMAN 364 H P 2ge9 A 96 74.9 74.9 X-linked agammaglobulinemia (XLA) BTK_HUMAN 370 I M 2ge9 A 102 108.8 108.8 X-linked agammaglobulinemia (XLA) BTK_HUMAN 295 L P 2ge9 A 27 0 0 X-linked agammaglobulinemia (XLA) BTK_HUMAN 358 L F 2ge9 A 90 10.1 10.1 X-linked agammaglobulinemia (XLA) BTK_HUMAN 369 L F 2ge9 A 101 75.8 75.8 X-linked agammaglobulinemia (XLA) BTK_HUMAN 365 N Y 2ge9 A 97 69.4 69.4 X-linked agammaglobulinemia (XLA) BTK_HUMAN 288 R Q 2ge9 A 20 63.9 63.9 X-linked agammaglobulinemia (XLA) BTK_HUMAN 288 R W 2ge9 A 20 63.9 63.9 X-linked agammaglobulinemia (XLA) BTK_HUMAN 307 R G 2ge9 A 39 22.6 22.6 X-linked agammaglobulinemia (XLA) BTK_HUMAN 307 R T 2ge9 A 39 22.6 22.6 X-linked agammaglobulinemia (XLA) BTK_HUMAN 372 R G 2ge9 A 104 40.7 40.7 X-linked agammaglobulinemia (XLA) BTK_HUMAN 366 S F 2ge9 A 98 84.2 84.2 X-linked agammaglobulinemia (XLA) BTK_HUMAN 319 V A 2ge9 A 51 17.6 17.6 X-linked agammaglobulinemia (XLA) BTK_HUMAN 334 Y S 2ge9 A 66 36.4 36.4 X-linked agammaglobulinemia (XLA) BTK_HUMAN 361 Y C 2ge9 A 93 32.9 32.9 X-linked agammaglobulinemia (XLA) C1QB_HUMAN 121 A T 2jg8 B 4 56.4 20 A breast cancer sample CADH1_HUMAN 193 T P 2omz B 43 30.1 30.1 Diffuse gastric cancer CADH1_HUMAN 282 M I 2o72 A 128 10.5 10.5 A breast cancer sample CADH1_HUMAN 315 N S 2o72 A 161 62.9 62.9 Lobular breast carcinoma CADH1_HUMAN 340 T A 2o72 A 186 40.4 40.4 Colorectal cancer CAH2_HUMAN 144 G R 12ca A 144 0 0 Autosomal recessive osteopetrosis type 3 (OPTB3) CAH2_HUMAN 107 H Y 12ca A 107 0 0 Autosomal recessive osteopetrosis type 3 (OPTB3) CAH2_HUMAN 94 H Y 1yo2 A 94 4.4 4.4 Autosomal recessive osteopetrosis type 3 (OPTB3) CAH2_HUMAN 92 Q P 1cni A 91 10.2 10.2 Autosomal recessive osteopetrosis type 3 (OPTB3) CAH4_HUMAN 219 R S 3fw3 A 201 5.8 5.8 Retinitis pigmentosa type 17 (RP17) CASP8_HUMAN 248 R W 2k7z A 35 4.5 4.5 Caspase-8 deficiency (CASP8D) CASQ2_HUMAN 307 D H 2vaf A 286 9.5 9.5 Catecholaminergic polymorphic ventricular tachycardia type 2 (CPVT2) CASQ2_HUMAN 167 L H 2vaf A 146 0.7 0.7 Catecholaminergic polymorphic ventricular tachycardia type 2 (CPVT2) CASQ2_HUMAN 33 R Q 2vaf A 12 41.4 41.4 Catecholaminergic polymorphic ventricular tachycardia type 2 (CPVT2) CATC_HUMAN 139 G R 2djg A 115 0.4 0.4 Papillon-Lefevre syndrome (PLS) CATC_HUMAN 127 H P 2djf A 103 20.9 0.8 Papillon-Lefevre syndrome (PLS) CATC_HUMAN 129 V E 1k3b A 105 39.3 22.9 Papillon-Lefevre syndrome (PLS) CATC_HUMAN 39 W S 3pdf A 15 0 0 Papillon-Lefevre syndrome (PLS) CATC_HUMAN 291 C Y 3pdf A 267 19 19 Papillon-Lefevre syndrome (PLS) CATC_HUMAN 236 D Y 1k3b B 6 38.3 21.2 Papillon-Lefevre syndrome (PLS) CATC_HUMAN 319 E G 1k3b B 89 19.6 19.6 Papillon-Lefevre syndrome (PLS) CATC_HUMAN 300 G D 1k3b B 70 23.8 12.8 Papillon-Lefevre syndrome (PLS) CATC_HUMAN 300 G S 1k3b B 70 23.8 12.8 Papillon-Lefevre syndrome (PLS) CATC_HUMAN 301 G S 1k3b B 71 15.6 10.5 Papillon-Lefevre syndrome (PLS) CATC_HUMAN 301 G V 1k3b B 71 15.6 10.5 Papillon-Lefevre syndrome (PLS) CATC_HUMAN 252 Q L 1k3b B 22 35.2 6.3 Papillon-Lefevre syndrome (PLS) CATC_HUMAN 286 Q R 1k3b B 56 0 0 Haim-Munk syndrome (HMS) CATC_HUMAN 312 Q R 2djg B 82 39.2 3.1 Papillon-Lefevre syndrome (PLS) CATC_HUMAN 272 R H 1k3b B 42 9.8 9.8 Papillon-Lefevre syndrome (PLS) CATC_HUMAN 272 R P 1k3b B 42 9.8 9.8 Papillon-Lefevre syndrome (PLS) CATC_HUMAN 339 R C 2djg B 109 27.6 22 Papillon-Lefevre syndrome (PLS) CATC_HUMAN 249 V F 2djf B 19 98.1 13.6 Papillon-Lefevre syndrome (PLS) CATC_HUMAN 294 Y H 3pdf A 270 0.2 0.2 Papillon-Lefevre syndrome (PLS) CATC_HUMAN 304 Y N 1k3b B 74 36.9 5.2 Papillon-Lefevre syndrome (PLS) CATC_HUMAN 340 Y C 3pdf A 316 2.8 2.5 Papillon-Lefevre syndrome (PLS) CATC_HUMAN 347 Y C 1k3b B 117 39.7 1.7 Juvenile periodontitis (JPD) CATC_HUMAN 447 E G 2djg C 53 33.1 7.8 Papillon-Lefevre syndrome (PLS) CATC_HUMAN 405 H N 1k3b C 11 42.2 6.1 Papillon-Lefevre syndrome (PLS) CATC_HUMAN 405 H R 1k3b C 11 42.2 6.1 Papillon-Lefevre syndrome (PLS) CATC_HUMAN 429 W C 2djg C 35 57 23.6 Papillon-Lefevre syndrome (PLS) CATC_HUMAN 412 Y C 3pdf A 388 0.9 0.9 Juvenile periodontitis (JPD) CATD_HUMAN 229 F I 1lyb D 60 1.7 0 Neuronal ceroid lipofuscinosis type 10 (CLN10) CATD_HUMAN 383 W C 1lyw F 214 1.4 1.4 Neuronal ceroid lipofuscinosis type 10 (CLN10) CATK_HUMAN 277 A V 7pck B 262 0.2 0.2 Pycnodysostosis (PKND) CATK_HUMAN 146 G R 2auz A 32 4.8 4.8 Pycnodysostosis (PKND) CATK_HUMAN 309 L P 1by8 A 294 10.5 10.5 Pycnodysostosis (PKND) CATK_HUMAN 79 G E 1by8 A 64 0 0 Pycnodysostosis (PKND) CBG_HUMAN 389 D N 2vdx A 357 2.1 2.1 Corticosteroid-binding globulin deficiency (CBG deficiency) CBG_HUMAN 115 L H 2vdy A 83 27.5 27.5 Corticosteroid-binding globulin deficiency (CBG deficiency) CBPN_HUMAN 178 G D 2nsm A 159 57.5 57.5 Carboxypeptidase N deficiency CBS_HUMAN 114 A V 1m54 F 71 27.3 2.9 Cystathionine beta-synthase deficiency (CBSD) CBS_HUMAN 155 A T 1m54 E 112 0.1 0.1 Cystathionine beta-synthase deficiency (CBSD) CBS_HUMAN 155 A V 1m54 E 112 0.1 0.1 Cystathionine beta-synthase deficiency (CBSD) CBS_HUMAN 226 A T 1m54 F 183 36.3 36.3 Cystathionine beta-synthase deficiency (CBSD) CBS_HUMAN 231 A P 1jbq B 253 2.8 2.8 Cystathionine beta-synthase deficiency (CBSD) CBS_HUMAN 288 A P 1m54 F 245 0 0 Cystathionine beta-synthase deficiency (CBSD) CBS_HUMAN 288 A T 1m54 F 245 0 0 Cystathionine beta-synthase deficiency (CBSD) CBS_HUMAN 331 A E 1m54 E 288 0 0 Cystathionine beta-synthase deficiency (CBSD) CBS_HUMAN 331 A V 1m54 E 288 0 0 Cystathionine beta-synthase deficiency (CBSD) CBS_HUMAN 355 A P 1jbq B 377 0.6 0.6 Cystathionine beta-synthase deficiency (CBSD) CBS_HUMAN 361 A T 1jbq A 383 0 0 Cystathionine beta-synthase deficiency (CBSD) CBS_HUMAN 109 C R 1jbq A 131 0 0 Cystathionine beta-synthase deficiency (CBSD) CBS_HUMAN 165 C Y 1m54 E 122 2.7 2.7 Cystathionine beta-synthase deficiency (CBSD) CBS_HUMAN 200 P L 1m54 E 157 91 91 Cystathionine beta-synthase deficiency (CBSD) CBS_HUMAN 275 C Y 1m54 E 232 0.7 0.7 Cystathionine beta-synthase deficiency (CBSD) CBS_HUMAN 370 C Y 1jbq A 392 0 0 Cystathionine beta-synthase deficiency (CBSD) CBS_HUMAN 234 D N 1jbq A 256 3.1 3.1 Cystathionine beta-synthase deficiency (CBSD) CBS_HUMAN 376 D N 1m54 E 333 0.1 0.1 Cystathionine beta-synthase deficiency (CBSD) CBS_HUMAN 128 E D 1m54 F 85 24.9 24.9 Cystathionine beta-synthase deficiency (CBSD) CBS_HUMAN 131 E D 1jbq B 153 30.3 30.3 Cystathionine beta-synthase deficiency (CBSD) CBS_HUMAN 144 E K 1m54 E 101 0.1 0.1 Cystathionine beta-synthase deficiency (CBSD) CBS_HUMAN 176 E K 1jbq A 198 19.7 3.6 Cystathionine beta-synthase deficiency (CBSD) CBS_HUMAN 239 E K 1m54 F 196 8.2 8.2 Cystathionine beta-synthase deficiency (CBSD) CBS_HUMAN 302 E K 1jbq A 324 31.3 31.3 Cystathionine beta-synthase deficiency (CBSD) CBS_HUMAN 116 G R 1m54 F 73 9.4 9.2 Cystathionine beta-synthase deficiency (CBSD) CBS_HUMAN 139 G R 1m54 E 96 57.5 57.5 Cystathionine beta-synthase deficiency (CBSD) CBS_HUMAN 148 G R 1jbq B 170 31.4 31.4 Cystathionine beta-synthase deficiency (CBSD) CBS_HUMAN 151 G R 1jbq B 173 0 0 Cystathionine beta-synthase deficiency (CBSD) CBS_HUMAN 305 G R 1m54 F 262 67.3 67.3 Cystathionine beta-synthase deficiency (CBSD) CBS_HUMAN 307 G S 1m54 E 264 7.3 7.3 Cystathionine beta-synthase deficiency (CBSD) CBS_HUMAN 347 G S 1jbq A 369 0 0 Cystathionine beta-synthase deficiency (CBSD) CBS_HUMAN 85 G R 1m54 F 42 13.9 13.9 Cystathionine beta-synthase deficiency (CBSD) CBS_HUMAN 65 H R 1m54 F 22 38.3 38.3 Cystathionine beta-synthase deficiency (CBSD) CBS_HUMAN 143 I M 1jbq A 165 0 0 Cystathionine beta-synthase deficiency (CBSD) CBS_HUMAN 152 I M 1m54 F 109 1.8 0.3 Cystathionine beta-synthase deficiency (CBSD) CBS_HUMAN 278 I T 1jbq A 300 0.4 0.4 Cystathionine beta-synthase deficiency (CBSD) CBS_HUMAN 102 K N 1m54 E 59 42.1 42.1 Cystathionine beta-synthase deficiency (CBSD) CBS_HUMAN 102 K Q 1m54 E 59 42.1 42.1 Cystathionine beta-synthase deficiency (CBSD) CBS_HUMAN 384 K E 1m54 E 341 15.8 15.8 Cystathionine beta-synthase deficiency (CBSD) CBS_HUMAN 384 K N 1m54 E 341 15.8 15.8 Cystathionine beta-synthase deficiency (CBSD) CBS_HUMAN 101 L P 1jbq A 123 4.2 4.2 Cystathionine beta-synthase deficiency (CBSD) CBS_HUMAN 154 L Q 1jbq A 176 0 0 Cystathionine beta-synthase deficiency (CBSD) CBS_HUMAN 338 L P 1jbq A 360 0 0 Cystathionine beta-synthase deficiency (CBSD) CBS_HUMAN 126 M V 1m54 E 83 0.2 0.2 Cystathionine beta-synthase deficiency (CBSD) CBS_HUMAN 173 M V 1m54 F 130 25.9 25.9 Cystathionine beta-synthase deficiency (CBSD) CBS_HUMAN 391 M I 1jbq A 413 0.8 0.8 Cystathionine beta-synthase deficiency (CBSD) CBS_HUMAN 228 N K 1jbq B 250 0.7 0.7 Cystathionine beta-synthase deficiency (CBSD) CBS_HUMAN 228 N S 1jbq B 250 0.7 0.7 Cystathionine beta-synthase deficiency (CBSD) CBS_HUMAN 145 P L 1m54 E 102 1.6 1.6 Cystathionine beta-synthase deficiency (CBSD) CBS_HUMAN 290 P L 1m54 F 247 47.8 47.8 Cystathionine beta-synthase deficiency (CBSD) CBS_HUMAN 49 P L 1m54 E 6 61.7 61.7 Cystathionine beta-synthase deficiency (CBSD) CBS_HUMAN 78 P R 1m54 E 35 69.2 27.8 Cystathionine beta-synthase deficiency (CBSD) CBS_HUMAN 88 P S 1jbq A 110 37.5 9.5 Cystathionine beta-synthase deficiency (CBSD) CBS_HUMAN 121 R C 1jbq B 143 4.4 4.4 Cystathionine beta-synthase deficiency (CBSD) CBS_HUMAN 121 R H 1jbq B 143 4.4 4.4 Cystathionine beta-synthase deficiency (CBSD) CBS_HUMAN 121 R L 1jbq B 143 4.4 4.4 Cystathionine beta-synthase deficiency (CBSD) CBS_HUMAN 125 R P 1m54 F 82 5.1 5.1 Cystathionine beta-synthase deficiency (CBSD) CBS_HUMAN 125 R Q 1m54 F 82 5.1 5.1 Cystathionine beta-synthase deficiency (CBSD) CBS_HUMAN 125 R W 1m54 F 82 5.1 5.1 Cystathionine beta-synthase deficiency (CBSD) CBS_HUMAN 224 R H 1jbq B 246 32.6 32.6 Cystathionine beta-synthase deficiency (CBSD) CBS_HUMAN 266 R G 1m54 E 223 18.1 18.1 Cystathionine beta-synthase deficiency (CBSD) CBS_HUMAN 266 R K 1m54 E 223 18.1 18.1 Cystathionine beta-synthase deficiency (CBSD) CBS_HUMAN 336 R C 1jbq A 358 27.3 23.5 Cystathionine beta-synthase deficiency (CBSD) CBS_HUMAN 336 R H 1jbq A 358 27.3 23.5 Cystathionine beta-synthase deficiency (CBSD) CBS_HUMAN 369 R C 1m54 E 326 20.6 17.1 Cystathionine beta-synthase deficiency (CBSD) CBS_HUMAN 369 R H 1m54 E 326 20.6 17.1 Cystathionine beta-synthase deficiency (CBSD) CBS_HUMAN 379 R Q 1m54 F 336 23.5 6.3 Cystathionine beta-synthase deficiency (CBSD) CBS_HUMAN 379 R W 1m54 F 336 23.5 6.3 Cystathionine beta-synthase deficiency (CBSD) CBS_HUMAN 58 R W 1m54 E 15 37.2 37.2 Cystathionine beta-synthase deficiency (CBSD) CBS_HUMAN 349 S N 1m54 F 306 1.9 1.9 Cystathionine beta-synthase deficiency (CBSD) CBS_HUMAN 352 S N 1m54 F 309 0 0 Cystathionine beta-synthase deficiency (CBSD) CBS_HUMAN 191 T M 1jbq A 213 2.6 2.6 Cystathionine beta-synthase deficiency (CBSD) CBS_HUMAN 257 T M 1m54 F 214 7.2 7.2 Cystathionine beta-synthase deficiency (CBSD) CBS_HUMAN 262 T M 1jbq A 284 1.9 1.9 Cystathionine beta-synthase deficiency (CBSD) CBS_HUMAN 262 T R 1jbq A 284 1.9 1.9 Cystathionine beta-synthase deficiency (CBSD) CBS_HUMAN 353 T M 1jbq A 375 0 0 Cystathionine beta-synthase deficiency (CBSD) CBS_HUMAN 168 V A 1jbq A 190 0 0 Cystathionine beta-synthase deficiency (CBSD) CBS_HUMAN 168 V M 1jbq A 190 0 0 Cystathionine beta-synthase deficiency (CBSD) CBS_HUMAN 180 V A 1jbq A 202 23 0.4 Cystathionine beta-synthase deficiency (CBSD) CBS_HUMAN 320 V A 1m54 E 277 5.3 5.3 Cystathionine beta-synthase deficiency (CBSD) CBS_HUMAN 354 V M 1jbq A 376 0 0 Cystathionine beta-synthase deficiency (CBSD) CBS_HUMAN 371 V M 1jbq A 393 0 0 Cystathionine beta-synthase deficiency (CBSD) CBS_HUMAN 198 D V 1m54 E 155 46.6 46.6 Cystathionine beta-synthase deficiency (CBSD) CD2A1_HUMAN 102 A E 1bi7 B 102 0.2 0.2 Li-Fraumeni syndrome (LFS) CD2A1_HUMAN 118 A T 1bi7 B 118 0 0 Cutaneous malignant melanoma 2 (CMM2) CD2A1_HUMAN 127 A S 1dc2 A 127 0.1 0.1 Squamous cell carcinoma CD2A1_HUMAN 132 A P 1bi7 B 132 49.6 49.6 Non-small cell lung carcinoma CD2A1_HUMAN 134 A V 1dc2 A 134 2.3 2.3 Non-small cell lung carcinoma CD2A1_HUMAN 20 A P 1bi7 B 20 0 0 A lung tumor CD2A1_HUMAN 20 A S 1bi7 B 20 0 0 A biliary tract tumor CD2A1_HUMAN 57 A V 1dc2 A 57 1.4 1.4 Pancreas carcinoma CD2A1_HUMAN 60 A V 1bi7 B 60 0 0 Melanoma CD2A1_HUMAN 68 A T 1dc2 A 68 7.1 7.1 An esophagus tumor CD2A1_HUMAN 72 C G 1bi7 B 72 3.2 3.2 An esophagus tumor CD2A1_HUMAN 108 D H 1bi7 B 108 3.7 3.6 A bladder tumor CD2A1_HUMAN 108 D Y 1bi7 B 108 3.7 3.6 Neck tumor CD2A1_HUMAN 14 D E 1bi7 B 14 24.3 19.1 A biliary tract tumor CD2A1_HUMAN 74 D N 1bi7 B 74 13.5 0.6 A bladder tumor CD2A1_HUMAN 74 D V 1bi7 B 74 13.5 0.6 A biliary tract tumor CD2A1_HUMAN 74 D Y 1bi7 B 74 13.5 0.6 Melanoma CD2A1_HUMAN 84 D E 1bi7 B 84 21.4 0.5 A bladder tumor CD2A1_HUMAN 84 D H 1bi7 B 84 21.4 0.5 Non-small cell lung carcinoma CD2A1_HUMAN 84 D N 1bi7 B 84 21.4 0.5 Neck and a lung tumor CD2A1_HUMAN 84 D Y 1bi7 B 84 21.4 0.5 Cutaneous malignant melanoma 2 (CMM2) CD2A1_HUMAN 119 E Q 1dc2 A 119 48.6 48.6 A biliary tract tumor CD2A1_HUMAN 120 E A 1bi7 B 120 63.7 63.7 Non-small cell lung carcinoma CD2A1_HUMAN 120 E K 1bi7 B 120 63.7 63.7 Non-small cell lung carcinoma CD2A1_HUMAN 26 E D 1bi7 B 26 55.9 50.4 A biliary tract tumor CD2A1_HUMAN 33 E D 1bi7 B 33 70.8 70.8 A biliary tract tumor CD2A1_HUMAN 69 E K 1dc2 A 69 11.6 11.6 A bladder tumor CD2A1_HUMAN 69 E V 1dc2 A 69 11.6 11.6 A lung tumor CD2A1_HUMAN 88 E D 1bi7 B 88 57.6 17.9 A biliary tract tumor CD2A1_HUMAN 101 G W 1bi7 B 101 54.7 54.7 Cutaneous malignant melanoma 2 (CMM2) CD2A1_HUMAN 122 G R 1dc2 A 122 68.4 68.4 Cutaneous malignant melanoma 2 (CMM2) CD2A1_HUMAN 122 G S 1dc2 A 122 68.4 68.4 A biliary tract tumor CD2A1_HUMAN 23 G D 1bi7 B 23 4.4 0 A pancreas tumor CD2A1_HUMAN 35 G A 1dc2 A 35 68.7 68.7 Cutaneous malignant melanoma 2 (CMM2) CD2A1_HUMAN 35 G E 1dc2 A 35 68.7 68.7 Melanoma CD2A1_HUMAN 35 G V 1dc2 A 35 68.7 68.7 Melanoma CD2A1_HUMAN 67 G R 1dc2 A 67 35 35 Melanoma CD2A1_HUMAN 89 G D 1bi7 B 89 21.6 9.8 Melanoma CD2A1_HUMAN 89 G S 1bi7 B 89 21.6 9.8 Melanoma CD2A1_HUMAN 123 H Q 1dc2 A 123 9.7 9.7 Leukemia CD2A1_HUMAN 66 H Y 1bi7 B 66 32.7 32.7 Non-small cell lung carcinoma CD2A1_HUMAN 83 H N 1bi7 B 83 0 0 A lung tumor CD2A1_HUMAN 83 H Y 1bi7 B 83 0 0 A head and neck tumor CD2A1_HUMAN 98 H P 1bi7 B 98 24.2 24.2 Melanoma CD2A1_HUMAN 98 H Q 1bi7 B 98 24.2 24.2 Melanoma CD2A1_HUMAN 49 I S 1dc2 A 49 0 0 A biliary tract tumor CD2A1_HUMAN 117 L M 1bi7 B 117 3.6 3.5 Melanoma CD2A1_HUMAN 16 L P 1bi7 B 16 0 0 A biliary tract tumor CD2A1_HUMAN 32 L P 1dc2 A 32 4 4 Cutaneous malignant melanoma 2 (CMM2) CD2A1_HUMAN 62 L P 1dc2 A 62 2.3 2.3 Familial melanoma CD2A1_HUMAN 94 L Q 1bi7 B 94 0 0 Melanoma CD2A1_HUMAN 97 L R 1bi7 B 97 0 0 Melanoma CD2A1_HUMAN 53 M I 1bi7 B 53 39.7 5.2 Cutaneous malignant melanoma 2 (CMM2) CD2A1_HUMAN 71 N K 1dc2 A 71 40.1 40.1 Familial melanoma CD2A1_HUMAN 114 P L 1bi7 B 114 0 0 Non-small cell lung carcinoma CD2A1_HUMAN 100 A L 1bi7 B 100 34.7 34.7 Melanoma CD2A1_HUMAN 68 A L 1dc2 A 68 7.1 7.1 Familial melanoma CD2A1_HUMAN 48 P L 1dc2 A 48 0 0 Melanoma CD2A1_HUMAN 81 P L 1dc2 A 81 0 0 Melanoma CD2A1_HUMAN 81 P T 1dc2 A 81 0 0 Melanoma CD2A1_HUMAN 50 Q R 1bi7 B 50 5.3 0.6 Cutaneous malignant melanoma 2 (CMM2) CD2A1_HUMAN 107 R C 1bi7 B 107 53.8 53.8 Cutaneous malignant melanoma 2 (CMM2) CD2A1_HUMAN 124 R H 1bi7 B 124 62.9 62.9 An esophagus tumor CD2A1_HUMAN 24 R C 1bi7 B 24 41.6 7.9 Melanoma CD2A1_HUMAN 24 R P 1bi7 B 24 41.6 7.9 Cutaneous malignant melanoma 2 (CMM2) CD2A1_HUMAN 80 R L 1bi7 B 80 5.2 5.2 Neck tumor CD2A1_HUMAN 80 R P 1bi7 B 80 5.2 5.2 Melanoma CD2A1_HUMAN 87 R P 1bi7 B 87 29.9 6.7 Cutaneous malignant melanoma 2 (CMM2) CD2A1_HUMAN 87 R W 1bi7 B 87 29.9 6.7 Cutaneous malignant melanoma 2 (CMM2) CD2A1_HUMAN 99 R P 1dc2 A 99 69.2 69.2 Familial melanoma CD2A1_HUMAN 99 R Q 1dc2 A 99 69.2 69.2 Non-small cell lung carcinoma CD2A1_HUMAN 77 T P 1bi7 B 77 33.6 0.6 Melanoma CD2A1_HUMAN 93 T A 1bi7 B 93 0 0 Non-small cell lung carcinoma CD2A1_HUMAN 126 V D 1bi7 B 126 0 0 Cutaneous malignant melanoma 2 (CMM2) CD2A1_HUMAN 59 V G 1bi7 B 59 0 0 Cutaneous malignant melanoma 2 (CMM2) CD2A1_HUMAN 95 V A 1bi7 B 95 13.9 13.9 Non-small cell lung carcinoma CD2A1_HUMAN 150 G V 1dc2 A 150 61.7 61.7 Non-small cell lung carcinoma CD2A1_HUMAN 142 H Y 1dc2 A 142 99.5 99.5 Non-small cell lung carcinoma CD2A1_HUMAN 144 R C 1dc2 A 144 69 69 Squamous cell carcinoma CD40L_HUMAN 123 A E 1aly A 8 17.7 0 X-linked immunodeficiency with hyper-IgM type 1 (HIGM1) CD40L_HUMAN 173 A D 1aly A 58 0.1 0.1 X-linked immunodeficiency with hyper-IgM type 1 (HIGM1) CD40L_HUMAN 208 A D 1i9r B 93 21.1 0 X-linked immunodeficiency with hyper-IgM type 1 (HIGM1) CD40L_HUMAN 235 A P 1aly A 120 0 0 X-linked immunodeficiency with hyper-IgM type 1 (HIGM1) CD40L_HUMAN 116 G R 1aly A 1 109 109 X-linked immunodeficiency with hyper-IgM type 1 (HIGM1) CD40L_HUMAN 116 G S 1aly A 1 109 109 X-linked immunodeficiency with hyper-IgM type 1 (HIGM1) CD40L_HUMAN 144 G E 3qd6 B 32 78.1 1.7 X-linked immunodeficiency with hyper-IgM type 1 (HIGM1) CD40L_HUMAN 226 G A 1aly A 111 41.4 0 X-linked immunodeficiency with hyper-IgM type 1 (HIGM1) CD40L_HUMAN 227 G V 1aly A 112 16.8 0 X-linked immunodeficiency with hyper-IgM type 1 (HIGM1) CD40L_HUMAN 257 G D 1aly A 142 0 0 X-linked immunodeficiency with hyper-IgM type 1 (HIGM1) CD40L_HUMAN 257 G S 1aly A 142 0 0 X-linked immunodeficiency with hyper-IgM type 1 (HIGM1) CD40L_HUMAN 125 H R 3qd6 A 13 27.4 0.1 X-linked immunodeficiency with hyper-IgM type 1 (HIGM1) CD40L_HUMAN 224 H Y 1i9r B 109 64.4 5.3 X-linked immunodeficiency with hyper-IgM type 1 (HIGM1) CD40L_HUMAN 143 K T 3qd6 C 31 48 9.8 X-linked immunodeficiency with hyper-IgM type 1 (HIGM1) CD40L_HUMAN 155 L P 3lkj B 35 13.8 13.8 X-linked immunodeficiency with hyper-IgM type 1 (HIGM1) CD40L_HUMAN 195 L P 3lkj B 75 10 0.6 X-linked immunodeficiency with hyper-IgM type 1 (HIGM1) CD40L_HUMAN 231 L S 3qd6 A 119 0.1 0.1 X-linked immunodeficiency with hyper-IgM type 1 (HIGM1) CD40L_HUMAN 258 L S 1aly A 143 0.8 0 X-linked immunodeficiency with hyper-IgM type 1 (HIGM1) CD40L_HUMAN 174 Q R 1aly A 59 39.1 0.3 X-linked immunodeficiency with hyper-IgM type 1 (HIGM1) CD40L_HUMAN 147 T N 1i9r A 32 37.5 4.5 X-linked immunodeficiency with hyper-IgM type 1 (HIGM1) CD40L_HUMAN 176 T I 1aly A 61 1 0 X-linked immunodeficiency with hyper-IgM type 1 (HIGM1) CD40L_HUMAN 211 T N 3qd6 A 99 68.8 9.2 X-linked immunodeficiency with hyper-IgM type 1 (HIGM1) CD40L_HUMAN 254 T M 3lkj C 134 0.5 0.5 X-linked immunodeficiency with hyper-IgM type 1 (HIGM1) CD40L_HUMAN 126 V A 1aly A 11 0 0 X-linked immunodeficiency with hyper-IgM type 1 (HIGM1) CD40L_HUMAN 126 V D 1aly A 11 0 0 X-linked immunodeficiency with hyper-IgM type 1 (HIGM1) CD40L_HUMAN 237 V E 1aly A 122 0 0 X-linked immunodeficiency with hyper-IgM type 1 (HIGM1) CD40L_HUMAN 140 W C 1aly A 25 0 0 X-linked immunodeficiency with hyper-IgM type 1 (HIGM1) CD40L_HUMAN 140 W G 1aly A 25 0 0 X-linked immunodeficiency with hyper-IgM type 1 (HIGM1) CD40L_HUMAN 140 W R 1aly A 25 0 0 X-linked immunodeficiency with hyper-IgM type 1 (HIGM1) CD40L_HUMAN 170 Y C 1i9r A 55 34.6 1.5 X-linked immunodeficiency with hyper-IgM type 1 (HIGM1) CD8A_HUMAN 111 G S 2hp4 A 90 0 0 Familial CD8 deficiency (CD8 deficiency) CDK2_HUMAN 45 P L 3f5x C 45 2.7 2.3 A glioblastoma multiforme sample CDK4_HUMAN 41 N S 3g33 C 46 34.5 11 Cutaneous malignant melanoma 3 (CMM3) CDK4_HUMAN 24 R C 3g33 A 29 39.9 39.9 Cutaneous malignant melanoma 3 (CMM3) CDK4_HUMAN 24 R H 3g33 A 29 39.9 39.9 Cutaneous malignant melanoma 3 (CMM3) CDK6_HUMAN 199 P L 1xo2 B 199 19.1 13.8 A metastatic melanoma sample CDKN3_HUMAN 79 C Y 1fpz A 79 0 0 Patients with hepatocellular carcinoma (HCC) CDKN3_HUMAN 94 D V 1fq1 A 94 46 46 Patients with hepatocellular carcinoma (HCC) CDKN3_HUMAN 78 F L 1fpz A 78 0 0 Patients with hepatocellular carcinoma (HCC) CDKN3_HUMAN 108 I V 1fq1 A 108 1.6 1.6 Patients with hepatocellular carcinoma (HCC) CDKN3_HUMAN 195 K I 1fpz A 195 29.4 29.4 Patients with hepatocellular carcinoma (HCC) CDKN3_HUMAN 95 L F 1fq1 A 95 11.2 11.2 Patients with hepatocellular carcinoma (HCC) CDKN3_HUMAN 187 N S 1fq1 A 187 47.7 7.2 Patients with hepatocellular carcinoma (HCC) CDKN3_HUMAN 91 N K 1fq1 A 91 43.7 43.7 Patients with hepatocellular carcinoma (HCC) CDKN3_HUMAN 31 W R 1fq1 A 31 35.1 35.1 Patients with hepatocellular carcinoma (HCC) CDN2C_HUMAN 72 A P 1bu9 A 72 0 0 Breast cancer CDO1_HUMAN 143 E Q 2ic1 A 148 29.1 29.1 A colorectal cancer sample CETP_HUMAN 459 D G 2obd A 442 52.2 52.2 CETP deficiency CETP_HUMAN 168 L P 2obd A 151 48 48 Hyperalphalipoproteinemia CETP_HUMAN 299 R C 2obd A 282 39.7 39.7 Hyperalphalipoproteinemia CFAD_HUMAN 214 C R 1dfp A 189 7.2 7.2 Complement factor D deficiency CFAD_HUMAN 213 V G 1fdp A 195 6 6 Complement factor D deficiency CFAH_HUMAN 1163 C W 3kxv A 65 6.2 6.2 Hemolytic-uremic syndrome (HUS) CFAH_HUMAN 1119 D G 2xqw C 21 41.1 17.8 Complement factor H deficiency (CFH deficiency) CFAH_HUMAN 1198 E A 3kzj A 100 14.9 14.9 Hemolytic-uremic syndrome (HUS) CFAH_HUMAN 1199 F S 2bzm A 97 0.1 0.1 Hemolytic-uremic syndrome (HUS) CFAH_HUMAN 1194 G D 2bzm A 92 50.2 50.2 Hemolytic-uremic syndrome (HUS) CFAH_HUMAN 1189 L R 2bzm A 87 0 0 Hemolytic-uremic syndrome (HUS) CFAH_HUMAN 1226 P S 2g7i A 120 0 0 Hemolytic-uremic syndrome (HUS) CFAH_HUMAN 1210 R C 2qfh A 289 34.3 34.3 Complement factor H deficiency (CFH deficiency) CFAH_HUMAN 1215 R G 2qfh A 294 20.9 20.9 Hemolytic-uremic syndrome (HUS) CFAH_HUMAN 1215 R Q 2qfh A 294 20.9 20.9 Complement factor H deficiency (CFH deficiency) CFAH_HUMAN 1191 S L 2g7i A 85 0.5 0.5 Hemolytic-uremic syndrome (HUS) CFAH_HUMAN 1184 T R 2xqw C 86 70.6 16.2 Complement factor H deficiency (CFH deficiency) CFAH_HUMAN 1134 V G 2xqw C 36 4.3 4.3 Hemolytic-uremic syndrome (HUS) CFAH_HUMAN 1197 V A 3kzj A 99 1.3 1.3 Hemolytic-uremic syndrome (HUS) CFAH_HUMAN 1157 W R 2bzm A 55 6 6 Hemolytic-uremic syndrome (HUS) CFAH_HUMAN 1183 W L 2qfh A 262 24.4 24.4 Hemolytic-uremic syndrome (HUS) CFAH_HUMAN 1183 W R 2qfh A 262 24.4 24.4 Hemolytic-uremic syndrome (HUS) CFAH_HUMAN 1142 Y D 2xqw C 44 24.6 8.6 Hemolytic-uremic syndrome (HUS) CFAH_HUMAN 431 C S 2jgw A 46 0 0 Complement factor H deficiency (CFH deficiency) CFAH_HUMAN 400 Q K 2ic4 A 81 31.7 31.7 Hemolytic-uremic syndrome (HUS) CFAH_HUMAN 127 R L 2rlp A 114 0 0 Complement factor H deficiency (CFH deficiency) CFAH_HUMAN 78 R G 2wii C 65 32.5 16.4 Hemolytic-uremic syndrome (HUS) CFAH_HUMAN 1043 C R 2qfh A 122 30.7 30.7 Hemolytic-uremic syndrome (HUS) CFAH_HUMAN 959 C Y 2qfh A 38 37.1 37.1 Complement factor H deficiency (CFH deficiency) CFAH_HUMAN 1076 Q E 2qfh A 155 33.6 33.6 Complement factor H deficiency (CFH deficiency) CFAH_HUMAN 950 Q H 2qfh A 29 31.2 31.2 Hemolytic-uremic syndrome (HUS) CFAH_HUMAN 956 T M 2qfh A 35 34.3 34.3 Hemolytic-uremic syndrome (HUS) CFAH_HUMAN 978 W C 2qfh A 57 21.2 21.2 Hemolytic-uremic syndrome (HUS) CFAH_HUMAN 1021 Y F 2qfh A 100 34.5 34.5 Hemolytic-uremic syndrome (HUS) CFAH_HUMAN 951 Y H 2qfh A 30 28.2 28.2 Hemolytic-uremic syndrome (HUS) CFTR_HUMAN 455 A E 2bbs A 68 0 0 Cystic fibrosis (CF) CFTR_HUMAN 559 A T 1xmi A 172 0 0 Cystic fibrosis (CF) CFTR_HUMAN 613 A T 1xmi D 226 8.6 8.6 Cystic fibrosis (CF) CFTR_HUMAN 513 D G 2bbo A 126 44.5 44.5 Congenital bilateral absence of the vas deferens (CBAVD) CFTR_HUMAN 572 D N 2bbo A 185 0.5 0.5 Cystic fibrosis (CF) CFTR_HUMAN 579 D G 1xmi D 192 5.9 0.9 Cystic fibrosis (CF) CFTR_HUMAN 614 D G 2bbt A 226 40.3 40.3 Cystic fibrosis (CF) CFTR_HUMAN 648 D V 1xmi B 261 46.9 43.1 Cystic fibrosis (CF) CFTR_HUMAN 651 D N 2bbt A 263 14.6 14.6 Cystic fibrosis (CF) CFTR_HUMAN 504 E Q 2pzg B 99 53.7 9 Cystic fibrosis (CF) CFTR_HUMAN 458 G V 1xmi B 71 0.3 0.3 Cystic fibrosis (CF) CFTR_HUMAN 480 G C 1xmi B 93 34 34 Cystic fibrosis (CF) CFTR_HUMAN 544 G V 2pzf A 126 7.3 1 Congenital bilateral absence of the vas deferens (CBAVD) CFTR_HUMAN 551 G D 1xmi A 164 0 0 Cystic fibrosis (CF) CFTR_HUMAN 551 G S 1xmi A 164 0 0 Cystic fibrosis (CF) CFTR_HUMAN 628 G R 1xmi A 241 7.4 0 Cystic fibrosis (CF) CFTR_HUMAN 620 H P 2bbs A 232 2.9 2.9 Cystic fibrosis (CF) CFTR_HUMAN 620 H Q 2bbs A 232 2.9 2.9 Cystic fibrosis (CF) CFTR_HUMAN 601 I F 1xmi A 214 0 0 Cystic fibrosis (CF) CFTR_HUMAN 618 I T 1xmi B 231 0 0 Cystic fibrosis (CF) CFTR_HUMAN 558 L S 2pze A 141 0.2 0.2 Cystic fibrosis (CF) CFTR_HUMAN 571 L S 1xmi A 184 0 0 Cystic fibrosis (CF) CFTR_HUMAN 610 L S 2pze A 193 0 0 Cystic fibrosis (CF) CFTR_HUMAN 619 L S 1xmi B 232 0 0 Cystic fibrosis (CF) CFTR_HUMAN 633 L P 2bbs A 245 0 0 Cystic fibrosis (CF) CFTR_HUMAN 574 P H 2bbo A 187 0.9 0.9 Cystic fibrosis (CF) CFTR_HUMAN 553 R Q 2pze A 136 24.9 6.4 Cystic fibrosis (CF) CFTR_HUMAN 560 R K 1xmi B 173 12.4 4.2 Cystic fibrosis (CF) CFTR_HUMAN 560 R S 1xmi B 173 12.4 4.2 Cystic fibrosis (CF) CFTR_HUMAN 560 R T 1xmi B 173 12.4 4.2 Cystic fibrosis (CF) CFTR_HUMAN 492 S F 1xmi D 105 29.8 1.5 Cystic fibrosis (CF) CFTR_HUMAN 549 S I 1xmi D 162 29 7.6 Cystic fibrosis (CF) CFTR_HUMAN 549 S N 1xmi D 162 29 7.6 Cystic fibrosis (CF) CFTR_HUMAN 549 S R 1xmi D 162 29 7.6 Cystic fibrosis (CF) CFTR_HUMAN 665 T S 1xmi E 278 39.1 0.7 Cystic fibrosis (CF) CFTR_HUMAN 456 V F 1xmi A 69 0 0 Cystic fibrosis (CF) CFTR_HUMAN 520 V F 2pzf A 102 0.3 0.3 Cystic fibrosis (CF) CFTR_HUMAN 562 V L 2pzf A 144 2.1 2.1 Cystic fibrosis (CF) CFTR_HUMAN 563 Y N 2bbo A 176 0.3 0.3 Cystic fibrosis (CF) CFTR_HUMAN 569 Y C 2pzg A 164 0.2 0.2 Cystic fibrosis (CF) CFTR_HUMAN 569 Y D 2pzg A 164 0.2 0.2 Cystic fibrosis (CF) CFTR_HUMAN 569 Y H 2pzg A 164 0.2 0.2 Cystic fibrosis (CF) CHIN_HUMAN 313 E K 3cxl A 317 51 51 Duane retraction syndrome type 2 (DURS2) CHIN_HUMAN 223 A V 3cxl A 227 0 0 Duane retraction syndrome type 2 (DURS2) CHIN_HUMAN 228 G S 3cxl A 232 5.9 5.9 Duane retraction syndrome type 2 (DURS2) CHIN_HUMAN 126 I M 3cxl A 130 0 0 Duane retraction syndrome type 2 (DURS2) CHIN_HUMAN 20 L F 3cxl A 24 0 0 Duane retraction syndrome type 2 (DURS2) CHIN_HUMAN 252 P Q 3cxl A 256 43.4 43.4 Duane retraction syndrome type 2 (DURS2) CHIN_HUMAN 143 Y H 3cxl A 147 17 17 Duane retraction syndrome type 2 (DURS2) CHK2_HUMAN 167 G R 1gxc D 104 4.4 4.4 Prostate cancer CHK2_HUMAN 145 R P 1gxc D 82 21.1 21.1 Prostate cancer CHK2_HUMAN 145 R W 1gxc D 82 21.1 21.1 Colon cancer CHK2_HUMAN 180 R C 3i6u A 97 47 36 Prostate cancer CHK2_HUMAN 180 R H 3i6u A 97 47 36 Prostate cancer CHK2_HUMAN 181 R C 3i6w B 112 28.6 10.1 Prostate cancer CHK2_HUMAN 181 R H 3i6w B 112 28.6 10.1 Prostate cancer CHK2_HUMAN 239 E K 2xm8 A 37 9.6 9.6 Prostate cancer CHK2_HUMAN 251 I F 3i6u A 168 0.3 0.3 Prostate cancer CHK2_HUMAN 318 R H 2cn8 A 116 27.1 27.1 Prostate cancer CHK2_HUMAN 323 T P 2cn8 A 121 0.5 0.5 Prostate cancer CHK2_HUMAN 476 T K 2xm8 A 274 29.6 29.6 Prostate cancer CHK2_HUMAN 327 Y C 2cn5 A 125 0.1 0.1 Prostate cancer CHLE_HUMAN 227 A V 1p0m A 199 0 0 Butyrylcholinesterase deficiency (BChE deficiency) CHLE_HUMAN 229 A T 1p0i A 201 0 0 Butyrylcholinesterase deficiency (BChE deficiency) CHLE_HUMAN 356 A D 2wsl A 328 12.6 12.6 Butyrylcholinesterase deficiency (BChE deficiency) CHLE_HUMAN 198 D E 1p0i A 170 0 0 Butyrylcholinesterase deficiency (BChE deficiency) CHLE_HUMAN 98 D G 3o9m B 70 30.1 30.1 Butyrylcholinesterase deficiency (BChE deficiency) CHLE_HUMAN 98 D H 3o9m B 70 30.1 30.1 Butyrylcholinesterase deficiency (BChE deficiency) CHLE_HUMAN 488 E K 1p0m A 460 0.4 0.4 Butyrylcholinesterase deficiency (BChE deficiency) CHLE_HUMAN 525 E V 3o9m A 497 40.1 40.1 Butyrylcholinesterase deficiency (BChE deficiency) CHLE_HUMAN 446 F S 1p0i A 418 0 0 Butyrylcholinesterase deficiency (BChE deficiency) CHLE_HUMAN 502 F L 1p0i A 474 0 0 Butyrylcholinesterase deficiency (BChE deficiency) CHLE_HUMAN 56 F I 1p0i A 28 0 0 Butyrylcholinesterase deficiency (BChE deficiency) CHLE_HUMAN 143 G D 3o9m B 115 5.7 5.7 Butyrylcholinesterase deficiency (BChE deficiency) CHLE_HUMAN 393 G R 1p0i A 365 0 0 Butyrylcholinesterase deficiency (BChE deficiency) CHLE_HUMAN 418 G V 2wsl A 390 4.9 4.9 Butyrylcholinesterase deficiency (BChE deficiency) CHLE_HUMAN 295 K R 2xmb A 267 21.4 21.4 Butyrylcholinesterase deficiency (BChE deficiency) CHLE_HUMAN 153 L F 3o9m A 125 2.2 2.2 Butyrylcholinesterase deficiency (BChE deficiency) CHLE_HUMAN 335 L P 2wsl A 307 3.6 3.6 Butyrylcholinesterase deficiency (BChE deficiency) CHLE_HUMAN 358 L I 1p0i A 330 0 0 Butyrylcholinesterase deficiency (BChE deficiency) CHLE_HUMAN 124 N Y 3o9m A 96 2.8 2.8 Butyrylcholinesterase deficiency (BChE deficiency) CHLE_HUMAN 128 P S 3o9m A 100 0.5 0.5 Butyrylcholinesterase deficiency (BChE deficiency) CHLE_HUMAN 65 P S 2wsl A 37 3.2 3.2 Butyrylcholinesterase deficiency (BChE deficiency) CHLE_HUMAN 546 Q L 2xmb A 518 23.6 23.6 Butyrylcholinesterase deficiency (BChE deficiency) CHLE_HUMAN 414 R C 3o9m B 386 8.7 8.7 Butyrylcholinesterase deficiency (BChE deficiency) CHLE_HUMAN 543 R C 1p0q A 515 17.1 17.1 Butyrylcholinesterase deficiency (BChE deficiency) CHLE_HUMAN 226 S G 2xmb A 198 3 3 Butyrylcholinesterase deficiency (BChE deficiency) CHLE_HUMAN 271 T M 1p0m A 243 0 0 Butyrylcholinesterase deficiency (BChE deficiency) CHLE_HUMAN 278 T P 1p0i A 250 4.1 4.1 Butyrylcholinesterase deficiency (BChE deficiency) CHLE_HUMAN 52 T M 3o9m A 24 28.6 28.6 Butyrylcholinesterase deficiency (BChE deficiency) CHLE_HUMAN 170 V M 2xmb A 142 0 0 Butyrylcholinesterase deficiency (BChE deficiency) CHLE_HUMAN 499 W R 2wsl A 471 0.8 0.8 Butyrylcholinesterase deficiency (BChE deficiency) CHLE_HUMAN 156 Y C 2xmb A 128 2.2 2.2 Butyrylcholinesterase deficiency (BChE deficiency) CHLE_HUMAN 61 Y C 2wsl A 33 3.4 3.4 Butyrylcholinesterase deficiency (BChE deficiency) CLAT_HUMAN 441 E K 2fy2 A 323 1.2 1.2 Congenital myasthenic syndrome with episodic apnea (CMSEA) CLAT_HUMAN 305 I T 2fy2 A 187 0 0 Congenital myasthenic syndrome with episodic apnea (CMSEA) CLAT_HUMAN 336 I T 2fy2 A 218 0 0 Congenital myasthenic syndrome with episodic apnea (CMSEA) CLAT_HUMAN 210 L P 2fy3 A 92 0.7 0.7 Congenital myasthenic syndrome with episodic apnea (CMSEA) CLAT_HUMAN 211 P A 2fy4 A 93 0 0 Congenital myasthenic syndrome with episodic apnea (CMSEA) CLAT_HUMAN 420 R C 2fy2 A 302 0 0 Congenital myasthenic syndrome with episodic apnea (CMSEA) CLAT_HUMAN 482 R G 2fy3 A 361 10.7 10.7 Congenital myasthenic syndrome with episodic apnea (CMSEA) CLAT_HUMAN 560 R H 2fy3 A 439 3.8 3.8 Congenital myasthenic syndrome with episodic apnea (CMSEA) CLAT_HUMAN 498 S L 2fy4 A 377 1.6 1.6 Congenital myasthenic syndrome with episodic apnea (CMSEA) CLAT_HUMAN 506 V L 2fy4 A 385 19.5 19.5 Congenital myasthenic syndrome with episodic apnea (CMSEA) CNKR2_HUMAN 46 R H 2ean A 46 69.9 69.9 A colorectal cancer sample CO1A1_HUMAN 926 G C 1q7d A 17 79.7 7.1 Osteogenesis imperfecta type II (OI-II) CO3_HUMAN 549 D N 2icf A 527 0.5 0.5 C3 deficiency CO3_HUMAN 1320 R Q 2wii B 572 13.1 5.9 C3 deficiency CO3A1_HUMAN 567 G E 2v53 C 10 77.7 1.2 Ehlers-Danlos syndrome type 4 (EDS4) CO3A1_HUMAN 582 G S 2v53 D 25 76.7 0 Ehlers-Danlos syndrome type 4 (EDS4) CO3A1_HUMAN 588 G D 2v53 B 31 102 7.4 Ehlers-Danlos syndrome type 4 (EDS4) CO3A1_HUMAN 1161 G V 3dmw C 4 58.5 5.8 Ehlers-Danlos syndrome type 4 (EDS4) CO3A1_HUMAN 1164 G E 3dmw C 7 77.8 11 Ehlers-Danlos syndrome type 4 (EDS4) CO3A1_HUMAN 1164 G R 3dmw C 7 77.8 11 Ehlers-Danlos syndrome type 4 (EDS4) CO3A1_HUMAN 1167 G V 3dmw B 10 77.2 8 Ehlers-Danlos syndrome type 4 (EDS4) CO3A1_HUMAN 1170 G D 3dmw A 13 70.9 2.9 Ehlers-Danlos syndrome type 4 (EDS4) CO3A1_HUMAN 1170 G V 3dmw A 13 70.9 2.9 Ehlers-Danlos syndrome type 4 (EDS4) CO3A1_HUMAN 1173 G E 3dmw A 16 71.9 0.8 Ehlers-Danlos syndrome type 4 (EDS4) CO3A1_HUMAN 1173 G R 3dmw A 16 71.9 0.8 Ehlers-Danlos syndrome type 4 (EDS4) CO3A1_HUMAN 1176 G V 3dmw B 19 79.6 10.2 Ehlers-Danlos syndrome type 4 (EDS4) CO3A1_HUMAN 1179 G R 3dmw A 22 88.3 10.5 Ehlers-Danlos syndrome type 4 (EDS4) CO3A1_HUMAN 1182 G E 3dmw C 25 86.8 12.1 Ehlers-Danlos syndrome type 4 (EDS4) CO3A1_HUMAN 1185 G D 3dmw A 28 76.7 4.9 Ehlers-Danlos syndrome type 4 (EDS4) CO3A1_HUMAN 1185 G V 3dmw A 28 76.7 4.9 Ehlers-Danlos syndrome type 4 (EDS4) CO3A1_HUMAN 1188 G E 3dmw A 31 76.1 5.7 Ehlers-Danlos syndrome type 4 (EDS4) CO3A1_HUMAN 1188 G R 3dmw A 31 76.1 5.7 Ehlers-Danlos syndrome type 4 (EDS4) COAA1_HUMAN 591 C R 1gr3 A 71 0 0 Schmid type metaphyseal chondrodysplasia (SMCD) COAA1_HUMAN 648 D G 1gr3 A 128 12.5 12.5 Schmid type metaphyseal chondrodysplasia (SMCD) COAA1_HUMAN 595 G E 1gr3 A 75 1.4 1.4 Schmid type metaphyseal chondrodysplasia (SMCD) COAA1_HUMAN 595 G R 1gr3 A 75 1.4 1.4 Schmid type metaphyseal chondrodysplasia (SMCD) COAA1_HUMAN 618 G V 1gr3 A 98 55.7 55.7 Schmid type metaphyseal chondrodysplasia (SMCD) COAA1_HUMAN 614 L P 1gr3 A 94 0 0 Schmid type metaphyseal chondrodysplasia (SMCD) COAA1_HUMAN 644 L R 1gr3 A 124 1 1 Schmid type metaphyseal chondrodysplasia (SMCD) COAA1_HUMAN 617 N K 1gr3 A 97 56.5 56.5 Schmid type metaphyseal chondrodysplasia (SMCD) COAA1_HUMAN 653 Q P 1gr3 A 133 10.6 10.6 Schmid type metaphyseal chondrodysplasia (SMCD) COAA1_HUMAN 600 S P 1gr3 A 80 17 4.1 Schmid type metaphyseal chondrodysplasia (SMCD) COAA1_HUMAN 671 S P 1gr3 A 151 13.3 0.5 Schmid type metaphyseal chondrodysplasia (SMCD) COAA1_HUMAN 651 W R 1gr3 A 131 10.2 10.2 Schmid type metaphyseal chondrodysplasia (SMCD) COAA1_HUMAN 582 Y D 1gr3 A 62 1.3 1.3 Schmid type metaphyseal chondrodysplasia (SMCD) COAA1_HUMAN 597 Y C 1gr3 A 77 0.1 0.1 Schmid type metaphyseal chondrodysplasia (SMCD) COAA1_HUMAN 597 Y H 1gr3 A 77 0.1 0.1 Schmid type metaphyseal chondrodysplasia (SMCD) COAA1_HUMAN 598 Y D 1gr3 A 78 33.9 1.9 Schmid type metaphyseal chondrodysplasia (SMCD) COCH_HUMAN 119 A T 1jbi A 93 26.4 26.4 Non-syndromic sensorineural deafness autosomal dominant type 9 (DFNA9) COCH_HUMAN 88 G E 1jbi A 62 24.3 24.3 Non-syndromic sensorineural deafness autosomal dominant type 9 (DFNA9) COCH_HUMAN 109 I N 1jbi A 83 3.4 3.4 Non-syndromic sensorineural deafness autosomal dominant type 9 (DFNA9) COCH_HUMAN 51 P S 1jbi A 25 57.7 57.7 Non-syndromic sensorineural deafness autosomal dominant type 9 (DFNA9) COCH_HUMAN 66 V G 1jbi A 40 15.5 15.5 Non-syndromic sensorineural deafness autosomal dominant type 9 (DFNA9) COCH_HUMAN 117 W R 1jbi A 91 38.2 38.2 Non-syndromic sensorineural deafness autosomal dominant type 9 (DFNA9) COLQ_HUMAN 59 P Q 1vzj I 7 82.4 0 Congenital myasthenic syndrome Engel type (CMSE) COMP_HUMAN 328 C R 3fby A 120 0.1 0.1 Pseudoachondroplasia (PSACH) COMP_HUMAN 348 C R 3fby A 140 29.7 29.7 Pseudoachondroplasia (PSACH) COMP_HUMAN 371 C S 3fby B 163 19.8 19.8 Multiple epiphyseal dysplasia type 1 (EDM1) COMP_HUMAN 387 C G 3fby A 179 0 0 Pseudoachondroplasia (PSACH) COMP_HUMAN 468 C Y 3fby C 260 33.2 33.2 Pseudoachondroplasia (PSACH) COMP_HUMAN 290 D N 3fby A 82 0.3 0.3 Pseudoachondroplasia (PSACH) COMP_HUMAN 342 D Y 3fby A 134 6.2 6.2 Multiple epiphyseal dysplasia type 1 (EDM1) COMP_HUMAN 349 D V 3fby B 141 6.4 6.4 Pseudoachondroplasia (PSACH) COMP_HUMAN 361 D V 3fby C 153 15.6 15.6 Multiple epiphyseal dysplasia type 1 (EDM1) COMP_HUMAN 361 D Y 3fby C 153 15.6 15.6 Multiple epiphyseal dysplasia type 1 (EDM1) COMP_HUMAN 408 D Y 3fby B 200 6.2 6.2 Multiple epiphyseal dysplasia type 1 (EDM1) COMP_HUMAN 420 D A 3fby A 212 15 15 Multiple epiphyseal dysplasia type 1 (EDM1) COMP_HUMAN 472 D Y 3fby A 264 2.4 2.4 Pseudoachondroplasia (PSACH) COMP_HUMAN 473 D G 3fby B 265 4 4 Pseudoachondroplasia (PSACH) COMP_HUMAN 482 D G 3fby B 274 5.9 5.9 Pseudoachondroplasia (PSACH) COMP_HUMAN 518 D N 3fby B 310 4.8 4.8 Pseudoachondroplasia (PSACH) COMP_HUMAN 299 G R 3fby C 91 9.3 9.3 Pseudoachondroplasia (PSACH) COMP_HUMAN 440 G E 3fby C 232 39.6 39.6 Pseudoachondroplasia (PSACH) COMP_HUMAN 440 G R 3fby C 232 39.6 39.6 Pseudoachondroplasia (PSACH) COMP_HUMAN 719 G D 3fby C 511 0 0 Pseudoachondroplasia (PSACH) COMP_HUMAN 453 N S 3fby B 245 1.7 1.7 Multiple epiphyseal dysplasia type 1 (EDM1) COMP_HUMAN 523 N K 3fby B 315 10.3 10.3 Multiple epiphyseal dysplasia type 1 (EDM1) COMP_HUMAN 276 P R 3fby A 68 0 0 Multiple epiphyseal dysplasia type 1 (EDM1) COMP_HUMAN 585 T M 3fby B 377 0 0 Pseudoachondroplasia (PSACH) COMP_HUMAN 585 T R 3fby B 377 0 0 Multiple epiphyseal dysplasia type 1 (EDM1) CP19A_HUMAN 437 C Y 3eqm A 437 39 39 Aromatase deficiency (AROD) CP19A_HUMAN 365 R Q 3eqm A 365 0.1 0.1 Aromatase deficiency (AROD) CP19A_HUMAN 375 R C 3eqm A 375 1.2 1.2 Aromatase deficiency (AROD) CP19A_HUMAN 435 R C 3eqm A 435 2.2 2.2 Aromatase deficiency (AROD) CRBA4_HUMAN 69 L P 3lwk A 64 0 0 Microphthalmia isolated with cataract type 4 (MCOPCT4) CRGD_HUMAN 107 E A 2klj A 107 53.1 53.1 Autosomal dominant non-nuclear polymorphic congenital cataract (PCC) CRGD_HUMAN 24 P S 1hk0 X 23 44 44 Autosomal dominant non-nuclear polymorphic congenital cataract (PCC) CRGD_HUMAN 24 P T 1hk0 X 23 44 44 Congenital cerulean cataract 3 (CCA3) CRGD_HUMAN 15 R C 1hk0 X 14 47.9 47.9 Progressive punctate cataract CRGD_HUMAN 59 R H 2g98 A 58 16 16 Crystalline aculeiform cataract (CACA) CRYAB_HUMAN 120 R G 2y1z B 57 17.8 0 Alpha-B crystallinopathy CSEN_HUMAN 170 A S 2e6w A 14 7.7 7.7 A breast cancer sample CSEN_HUMAN 179 D Y 2e6w A 23 51.2 51.2 A breast cancer sample CSKP_HUMAN 96 G V 3mft A 110 10.7 10.7 A lung large cell carcinoma sample CSKP_HUMAN 28 R L 3c0i A 42 17.9 17.9 FG syndrome type 4; (FGS4) CSRP3_HUMAN 58 C G 2o10 A 52 0.2 0.2 Cardiomyopathy familial hypertrophic type 12 (CMH12) CSRP3_HUMAN 44 L P 2o10 A 38 11.2 11.2 Cardiomyopathy familial hypertrophic type 12 (CMH12) CTCF_HUMAN 448 R Q 2ct1 A 57 63.8 63.8 A Wilms' tumor CTNB1_HUMAN 32 D A 1p22 C 14 56.2 3 Hepatocellular carcinoma CTNB1_HUMAN 32 D G 1p22 C 14 56.2 3 Pilomatrixoma (PTR) CTNB1_HUMAN 32 D Y 1p22 C 14 56.2 3 Pilomatrixoma (PTR) CTNB1_HUMAN 34 G E 1p22 C 16 89.9 5.3 Pilomatrixoma (PTR) CTNB1_HUMAN 34 G R 1p22 C 16 89.9 5.3 Hepatocellular carcinoma CTNB1_HUMAN 35 I S 3fqr C 6 77.3 4.7 Hepatocellular carcinoma CTNB1_HUMAN 33 S F 3fqn C 4 129.5 86.5 Medulloblastoma (MDB) CTNB1_HUMAN 33 S L 3fqn C 4 129.5 86.5 Hepatocellular carcinoma CTNB1_HUMAN 33 S Y 3fqn C 4 129.5 86.5 Colorectal cancer (CRC) CTNB1_HUMAN 37 S A 3fqn C 8 99.4 22.6 Medulloblastoma (MDB) CTNB1_HUMAN 37 S C 3fqn C 8 99.4 22.6 Ovarian cancer CTNB1_HUMAN 37 S F 3fqn C 8 99.4 22.6 Pilomatrixoma (PTR) CTNB1_HUMAN 37 S Y 3fqn C 8 99.4 22.6 Hepatocellular carcinoma CTNB1_HUMAN 23 S R 2g57 A 6 40.4 40.4 Hepatocellular carcinoma CTNB1_HUMAN 41 T A 2g57 A 24 98.3 98.3 Hepatocellular carcinoma CTNB1_HUMAN 41 T I 2g57 A 24 98.3 98.3 Ovarian cancer CUTC_HUMAN 77 P L 3iwp C 91 40.4 40.4 A breast cancer sample CXB2_HUMAN 197 A S 2zw3 C 197 44.4 44.4 Non-syndromic sensorineural deafness autosomal dominant type 3A (DFNA3A) CXB2_HUMAN 202 C F 2zw3 F 202 3.6 3.6 Non-syndromic sensorineural deafness autosomal dominant type 3A (DFNA3A) CXB2_HUMAN 159 D V 3iz1 A 159 56.7 56.7 Non-syndromic sensorineural deafness autosomal recessive type 1A (DFNB1A) CXB2_HUMAN 179 D N 2zw3 B 179 29.5 4.9 Non-syndromic sensorineural deafness autosomal dominant type 3A (DFNA3A) CXB2_HUMAN 50 D N 2zw3 D 50 59.4 22.5 Ichthyosis hystrix-like with deafness syndrome (HID syndrome) CXB2_HUMAN 50 D Y 2zw3 D 50 59.4 22.5 Keratitis-ichthyosis-deafness syndrome (KID syndrome) CXB2_HUMAN 66 D H 2zw3 F 66 62.7 0.1 Palmoplantar keratoderma with deafness (PPKDFN) CXB2_HUMAN 129 E K 3iz1 A 129 32.3 32.3 Non-syndromic sensorineural deafness autosomal recessive type 1A (DFNB1A) CXB2_HUMAN 12 G R 2zw3 E 12 53.9 49.4 Keratitis-ichthyosis-deafness syndrome (KID syndrome) CXB2_HUMAN 59 G A 2zw3 F 59 35.3 0.9 Palmoplantar keratoderma with deafness (PPKDFN) CXB2_HUMAN 59 G S 2zw3 F 59 35.3 0.9 Bart-Pumphrey syndrome (BPS) CXB2_HUMAN 203 I K 2zw3 F 203 16.8 16.8 Non-syndromic sensorineural deafness autosomal recessive type 1A (DFNB1A) CXB2_HUMAN 214 L P 3iz2 C 208 30.2 30.2 Non-syndromic sensorineural deafness autosomal recessive type 1A (DFNB1A) CXB2_HUMAN 79 L P 2zw3 E 79 37.2 1.3 Non-syndromic sensorineural deafness autosomal recessive type 1A (DFNB1A) CXB2_HUMAN 90 L P 2zw3 E 90 60.4 21.6 Non-syndromic sensorineural deafness autosomal recessive type 1A (DFNB1A) CXB2_HUMAN 93 M I 2zw3 F 93 62.2 16.5 Non-syndromic sensorineural deafness autosomal recessive type 1A (DFNB1A) CXB2_HUMAN 54 N K 2zw3 A 54 83 4.7 Bart-Pumphrey syndrome (BPS) CXB2_HUMAN 80 Q K 2zw3 A 80 0 0 Non-syndromic sensorineural deafness autosomal recessive type 1A (DFNB1A) CXB2_HUMAN 143 R Q 2zw3 A 143 11.3 11.3 Non-syndromic sensorineural deafness autosomal dominant type 3A (DFNA3A) CXB2_HUMAN 143 R W 2zw3 A 143 11.3 11.3 Non-syndromic sensorineural deafness autosomal recessive type 1A (DFNB1A) CXB2_HUMAN 184 R P 2zw3 D 184 47 3.7 Non-syndromic sensorineural deafness autosomal recessive type 1A (DFNB1A) CXB2_HUMAN 184 R Q 2zw3 D 184 47 3.7 Non-syndromic sensorineural deafness autosomal dominant type 3A (DFNA3A) CXB2_HUMAN 184 R W 2zw3 D 184 47 3.7 Non-syndromic sensorineural deafness autosomal recessive type 1A (DFNB1A) CXB2_HUMAN 32 R H 2zw3 F 32 0.6 0.6 Non-syndromic sensorineural deafness autosomal recessive type 1A (DFNB1A) CXB2_HUMAN 75 R Q 2zw3 A 75 49.2 0.5 Palmoplantar keratoderma with deafness (PPKDFN) CXB2_HUMAN 75 R W 2zw3 A 75 49.2 0.5 Non-syndromic sensorineural deafness autosomal dominant type 3A (DFNA3A) CXB2_HUMAN 17 S F 2zw3 B 17 47.2 32.4 Keratitis-ichthyosis-deafness syndrome (KID syndrome) CXB2_HUMAN 178 V A 2zw3 C 178 6.8 4.5 Non-syndromic sensorineural deafness autosomal recessive type 1A (DFNB1A) CXB2_HUMAN 37 V I 2zw3 A 37 48.6 39.7 Non-syndromic sensorineural deafness autosomal recessive type 1A (DFNB1A) CXB2_HUMAN 84 V L 2zw3 C 84 6 6 Non-syndromic sensorineural deafness autosomal recessive type 1A (DFNB1A) CXB2_HUMAN 95 V M 2zw3 C 95 9.6 9.6 Non-syndromic sensorineural deafness autosomal recessive type 1A (DFNB1A) CXB2_HUMAN 44 W C 2zw3 B 44 1.5 0.8 Non-syndromic sensorineural deafness autosomal dominant type 3A (DFNA3A) CXB2_HUMAN 44 W S 2zw3 B 44 1.5 0.8 Non-syndromic sensorineural deafness autosomal dominant type 3A (DFNA3A) CXB2_HUMAN 77 W R 2zw3 B 77 0.8 0.8 Non-syndromic sensorineural deafness autosomal recessive type 1A (DFNB1A) CY24A_HUMAN 156 P Q 1wlp A 13 86.5 0.2 Chronic granulomatous disease autosomal recessive cytochrome-b-negative (ARCGD) CYC_HUMAN 42 G S 3nwv A 41 20.1 20.1 Thrombocytopenia type 4 (THC4) CYLD_HUMAN 747 E G 2vhf A 165 57.9 57.9 Brooke-Spiegler syndrome (BRSS) CYTB_HUMAN 4 G R 1stf I 4 61.1 2.5 Progressive myoclonic epilepsy type 1 (EPM1) CYTC_HUMAN 94 L Q 1tij A 68 40 0.1 Amyloidosis type 6 (AMYL6) DAPK3_HUMAN 161 D N 2j90 A 176 36.1 31.5 An ovarian mucinous carcinoma sample DAPK3_HUMAN 216 P S 3bqr A 210 11.6 11.4 A lung neuroendocrine carcinoma sample DAPK3_HUMAN 112 T M 2j90 A 127 47.1 47.1 A colorectal adenocarcinoma sample DCC_HUMAN 1039 F S 2ede A 103 18.4 18.4 A colorectal cancer sample DCLK1_HUMAN 93 R Q 1mfw A 46 75.3 75.3 A gastric adenocarcinoma sample DCTN1_HUMAN 59 G S 1txq A 45 0 0 Progressive lower motor neuron disease (PLMND) DCUP_HUMAN 80 A G 1jpi A 101 0 0 Hepatoerythropoietic porphyria (HEP) DCUP_HUMAN 80 A S 1jpi A 101 0 0 Familial porphyria cutanea tarda (FPCT) DCUP_HUMAN 167 E K 2q71 A 157 6.2 6.2 Familial porphyria cutanea tarda (FPCT) DCUP_HUMAN 218 E K 1uro A 218 0 0 Familial porphyria cutanea tarda (FPCT) DCUP_HUMAN 229 F L 1jph A 250 0 0 Familial porphyria cutanea tarda (FPCT) DCUP_HUMAN 232 F L 3gw3 A 232 1.4 1.4 Familial porphyria cutanea tarda (FPCT) DCUP_HUMAN 134 V Q 1r3t A 134 1.5 1.5 Familial porphyria cutanea tarda (FPCT) DCUP_HUMAN 134 V Q 1r3t A 134 1.5 1.5 Familial porphyria cutanea tarda (FPCT) DCUP_HUMAN 46 F L 3gvr A 46 3.3 3.3 Hepatoerythropoietic porphyria (HEP) DCUP_HUMAN 156 G D 1jph A 177 0 0 Familial porphyria cutanea tarda (FPCT) DCUP_HUMAN 25 G E 1r3t A 25 13.4 13.4 Familial porphyria cutanea tarda (FPCT) DCUP_HUMAN 281 G E 3gvr A 281 1.1 1.1 Hepatoerythropoietic porphyria (HEP) DCUP_HUMAN 281 G V 3gvr A 281 1.1 1.1 Familial porphyria cutanea tarda (FPCT) DCUP_HUMAN 303 G S 1jpk A 324 0 0 Familial porphyria cutanea tarda (FPCT) DCUP_HUMAN 318 G R 1r3v A 318 16.1 16.1 Familial porphyria cutanea tarda (FPCT) DCUP_HUMAN 220 H P 1r3q A 220 10.9 10.9 Hepatoerythropoietic porphyria (HEP) DCUP_HUMAN 260 I T 1r3q A 260 0 0 Familial porphyria cutanea tarda (FPCT) DCUP_HUMAN 334 I T 1jph A 355 0 0 Familial porphyria cutanea tarda (FPCT) DCUP_HUMAN 161 L Q 1jph A 182 0 0 Familial porphyria cutanea tarda (FPCT) DCUP_HUMAN 195 L F 1jph A 216 0 0 Familial porphyria cutanea tarda (FPCT) DCUP_HUMAN 216 L Q 3gvv A 216 0.2 0.2 Familial porphyria cutanea tarda (FPCT) DCUP_HUMAN 253 L Q 3gvv A 253 36.7 36.7 Familial porphyria cutanea tarda (FPCT) DCUP_HUMAN 282 L R 3gvv A 282 1 1 Familial porphyria cutanea tarda (FPCT) DCUP_HUMAN 165 M R 1jph A 186 0 0 Familial porphyria cutanea tarda (FPCT) DCUP_HUMAN 324 M T 2q71 A 314 5.9 5.6 Familial porphyria cutanea tarda (FPCT) DCUP_HUMAN 304 N K 1uro A 304 5.1 5.1 Familial porphyria cutanea tarda (FPCT) DCUP_HUMAN 235 P S 1r3v A 235 32.7 32.7 Familial porphyria cutanea tarda (FPCT) DCUP_HUMAN 62 P L 2q6z A 52 23 23 Hepatoerythropoietic porphyria (HEP) DCUP_HUMAN 142 R Q 3gvv A 142 14.7 14.7 Familial porphyria cutanea tarda (FPCT) DCUP_HUMAN 144 R P 3gvv A 144 50.7 50.7 Familial porphyria cutanea tarda (FPCT) DCUP_HUMAN 193 R P 1uro A 193 34.8 34.8 Familial porphyria cutanea tarda (FPCT) DCUP_HUMAN 292 R G 3gw0 A 292 15.1 15.1 Hepatoerythropoietic porphyria (HEP) DCUP_HUMAN 332 R H 3gvr A 332 19 19 Familial porphyria cutanea tarda (FPCT) DCUP_HUMAN 219 S F 3gvr A 219 15 15 Familial porphyria cutanea tarda (FPCT) DCUP_HUMAN 311 Y C 1r3v A 311 51.4 2.6 Hepatoerythropoietic porphyria (HEP) DCX_HUMAN 152 A S 2xrp I 26 19.3 12.7 Lissencephaly X-linked type 1 (LISX1) DCX_HUMAN 143 D N 2xrp I 17 6.6 2.8 Lissencephaly X-linked type 1 (LISX1) DCX_HUMAN 167 D H 2xrp I 41 44.2 26.8 Subcortical band heterotopia X-linked (SBHX) DCX_HUMAN 148 G E 2xrp I 22 11.2 11.2 Subcortical band heterotopia X-linked (SBHX) DCX_HUMAN 181 G A 2xrp I 55 2.5 2.5 Lissencephaly X-linked type 1 (LISX1) DCX_HUMAN 185 I T 1mjd A 67 0 0 Subcortical band heterotopia X-linked (SBHX) DCX_HUMAN 131 K N 2xrp I 5 67.6 67.6 Subcortical band heterotopia X-linked (SBHX) DCX_HUMAN 178 L R 1mjd A 60 0 0 Subcortical band heterotopia X-linked (SBHX) DCX_HUMAN 141 N D 1mjd A 23 1.8 1.8 Lissencephaly X-linked type 1 (LISX1) DCX_HUMAN 140 R H 1mjd A 22 8.8 8.8 Subcortical band heterotopia X-linked (SBHX) DCX_HUMAN 140 R L 1mjd A 22 8.8 8.8 Lissencephaly X-linked type 1 (LISX1) DCX_HUMAN 159 R L 2xrp I 33 91.9 71.9 Subcortical band heterotopia X-linked (SBHX) DCX_HUMAN 170 R G 2xrp I 44 74.3 66.4 Subcortical band heterotopia X-linked (SBHX) DCX_HUMAN 183 R S 2xrp I 57 39.8 20.5 Lissencephaly X-linked type 1 (LISX1) DCX_HUMAN 128 S R 2xrp I 2 98.5 84.6 Lissencephaly X-linked type 1 (LISX1) DCX_HUMAN 206 Y D 1mjd A 88 0.4 0.4 Subcortical band heterotopia X-linked (SBHX) DCX_HUMAN 206 Y H 1mjd A 88 0.4 0.4 Lissencephaly X-linked type 1 (LISX1) DDR2_HUMAN 105 R S 2wuh A 93 17.8 1 A lung large cell carcinoma sample DDX3X_HUMAN 294 R T 2i4i A 129 44.3 44.3 A breast cancer sample DEAF1_HUMAN 542 Q H 2jw6 A 50 65.1 65.1 A primary colorectal cancer DEAF1_HUMAN 530 R L 2jw6 A 38 71.7 71.7 A primary colorectal cancer DEAF1_HUMAN 526 T N 2jw6 A 34 79.1 79.1 A primary colorectal cancer DEF4_HUMAN 74 R Q 1zmm A 11 99.3 99.3 A colorectal cancer sample DGUOK_HUMAN 227 E K 2ocp E 191 16.3 16.3 Hepatocerebral mitochondrial DNA depletion syndrome (MDS) DGUOK_HUMAN 250 L S 2ocp F 214 0.1 0.1 Hepatocerebral mitochondrial DNA depletion syndrome (MDS) DGUOK_HUMAN 142 R K 2ocp E 106 12.2 12.2 Hepatocerebral mitochondrial DNA depletion syndrome (MDS) DHB4_HUMAN 16 G S 1zbq E 37 17.3 17.3 D-bifunctional protein deficiency (DBPD) DHB8_HUMAN 158 V L 2pd6 D 154 13.4 13 A breast cancer sample DHE3_HUMAN 349 E A 1nr1 C 287 21 21 Hyperinsulinism-hyperammonemia syndrome (HHS) DHE3_HUMAN 499 G D 1l1f C 446 41.8 41.8 Hyperinsulinism-hyperammonemia syndrome (HHS) DHE3_HUMAN 499 G S 1l1f C 446 41.8 41.8 Hyperinsulinism-hyperammonemia syndrome (HHS) DHE3_HUMAN 507 H Y 1nr1 C 445 10.9 10.9 Hyperinsulinism-hyperammonemia syndrome (HHS) DHE3_HUMAN 274 R C 1l1f F 221 12.8 12.8 Hyperinsulinism-hyperammonemia syndrome (HHS) DHE3_HUMAN 318 R K 1nr1 D 256 21.5 21.5 Hyperinsulinism-hyperammonemia syndrome (HHS) DHE3_HUMAN 318 R T 1nr1 D 256 21.5 21.5 Hyperinsulinism-hyperammonemia syndrome (HHS) DHE3_HUMAN 322 R C 1l1f F 269 58.1 58.1 Hyperinsulinism-hyperammonemia syndrome (HHS) DHE3_HUMAN 322 R H 1l1f F 269 58.1 58.1 Hyperinsulinism-hyperammonemia syndrome (HHS) DHE3_HUMAN 270 S C 1l1f C 217 10.3 10.3 Hyperinsulinism-hyperammonemia syndrome (HHS) DHE3_HUMAN 498 S L 1nr1 D 436 71.2 71.2 Hyperinsulinism-hyperammonemia syndrome (HHS) DHE3_HUMAN 501 S P 1nr1 D 439 33.2 27.1 Hyperinsulinism-hyperammonemia syndrome (HHS) DHE3_HUMAN 319 Y C 1nr1 B 257 2.2 2.2 Hyperinsulinism-hyperammonemia syndrome (HHS) DHH_HUMAN 162 L P 2wfq A 124 0 0 Complete pure gonadal dysgenesis 46,XY type (GDXYM) DHI1_HUMAN 148 V E 1xu7 C 142 14.6 0 A breast cancer sample DHPR_HUMAN 212 F C 1hdr A 212 1.6 1.6 BH4-deficient hyperphenylalaninemia type C (HPABH4C) DHPR_HUMAN 149 G R 1hdr A 149 8.3 8.3 BH4-deficient hyperphenylalaninemia type C (HPABH4C) DHPR_HUMAN 151 G S 1hdr A 151 11.7 0 BH4-deficient hyperphenylalaninemia type C (HPABH4C) DHPR_HUMAN 170 G S 1hdr A 170 57.5 18.5 BH4-deficient hyperphenylalaninemia type C (HPABH4C) DHPR_HUMAN 17 G R 1hdr A 17 9.1 9.1 BH4-deficient hyperphenylalaninemia type C (HPABH4C) DHPR_HUMAN 17 G V 1hdr A 17 9.1 9.1 BH4-deficient hyperphenylalaninemia type C (HPABH4C) DHPR_HUMAN 18 G D 1hdr A 18 0 0 BH4-deficient hyperphenylalaninemia type C (HPABH4C) DHPR_HUMAN 23 G D 1hdr A 23 0.8 0.8 BH4-deficient hyperphenylalaninemia type C (HPABH4C) DHPR_HUMAN 158 H Y 1hdr A 158 1 1 BH4-deficient hyperphenylalaninemia type C (HPABH4C) DHPR_HUMAN 14 L P 1hdr A 14 0.9 0.9 BH4-deficient hyperphenylalaninemia type C (HPABH4C) DHPR_HUMAN 74 L P 1hdr A 74 37.7 37.7 BH4-deficient hyperphenylalaninemia type C (HPABH4C) DHPR_HUMAN 145 P L 1hdr A 145 76.3 23.5 BH4-deficient hyperphenylalaninemia type C (HPABH4C) DHPR_HUMAN 66 Q R 1hdr A 66 16.1 16.1 BH4-deficient hyperphenylalaninemia type C (HPABH4C) DHPR_HUMAN 108 W G 1hdr A 108 34.4 4.4 BH4-deficient hyperphenylalaninemia type C (HPABH4C) DHPR_HUMAN 36 W R 1hdr A 36 20.6 20.6 BH4-deficient hyperphenylalaninemia type C (HPABH4C) DHPR_HUMAN 150 Y C 1hdr A 150 14.6 14.6 BH4-deficient hyperphenylalaninemia type C (HPABH4C) DNLI1_HUMAN 612 S L 1x9n A 381 56.3 56.3 A colorectal cancer sample DNM3B_HUMAN 270 S P 3flg A 66 16.4 16.4 Immunodeficiency-centromeric instability-facial anomalies syndrome (ICF) DP13A_HUMAN 643 E Q 2ela B 172 67.2 67.2 A breast cancer sample DPEP1_HUMAN 246 R H 1itu A 230 1.7 1.7 A colorectal cancer sample DPOG2_HUMAN 451 G E 2g4c C 440 9.1 9.1 Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal dominant type 4 (PEOA4) DPYL2_HUMAN 481 R C 2gse A 492 39.2 10.8 A colorectal cancer sample DPYS_HUMAN 435 G R 2vr2 A 457 0 0 DHP deficiency DPYS_HUMAN 334 Q R 2vr2 A 356 17.4 17.4 DHP deficiency DPYS_HUMAN 490 R T 2vr2 A 512 80.7 21.1 DHP deficiency DPYS_HUMAN 68 T R 2vr2 A 90 0 0 DHP deficiency DPYS_HUMAN 360 W R 2vr2 A 382 3.9 3.9 DHP deficiency DSG2_HUMAN 49 R H 2yqg A 10 94.1 94.1 Familial arrhythmogenic right ventricular dysplasia 10 (ARVD10) DYN2_HUMAN 618 A T 2ys1 A 106 52 52 Centronuclear myopathy autosomal dominant (ADCNM) DYN2_HUMAN 562 K E 2ys1 A 50 44.9 44.9 Charcot-Marie-Tooth disease dominant intermediate type B (CMTDIB) DYN2_HUMAN 619 S L 2ys1 A 107 6.7 6.7 Centronuclear myopathy autosomal dominant (ADCNM) DYN2_HUMAN 619 S W 2ys1 A 107 6.7 6.7 Centronuclear myopathy autosomal dominant (ADCNM) DYRK2_HUMAN 198 P L 3kvw A 75 77 77 A glioblastoma multiforme sample E2AK2_HUMAN 439 L V 2a1a B 172 23.2 23.2 A lung adenocarcinoma sample EDA_HUMAN 349 A T 1rj7 E 121 30.9 0 Ectodermal dysplasia, type 1 (ED1) EDA_HUMAN 356 A D 1rj7 F 128 24.5 24.5 Ectodermal dysplasia, type 1 (ED1) EDA_HUMAN 332 C Y 1rj8 A 105 5 0 Ectodermal dysplasia, type 1 (ED1) EDA_HUMAN 298 D H 1rj7 G 70 39.9 39.9 Ectodermal dysplasia, type 1 (ED1) EDA_HUMAN 298 D Y 1rj7 G 70 39.9 39.9 Ectodermal dysplasia, type 1 (ED1) EDA_HUMAN 302 F S 1rj7 F 74 32 1.5 Ectodermal dysplasia, type 1 (ED1) EDA_HUMAN 255 G C 1rj7 G 27 0.5 0.5 Ectodermal dysplasia, type 1 (ED1) EDA_HUMAN 255 G D 1rj7 G 27 0.5 0.5 Ectodermal dysplasia, type 1 (ED1) EDA_HUMAN 269 G V 1rj7 E 41 2.7 2.7 Ectodermal dysplasia, type 1 (ED1) EDA_HUMAN 291 G R 1rj7 F 63 0 0 Ectodermal dysplasia, type 1 (ED1) EDA_HUMAN 291 G W 1rj7 F 63 0 0 Ectodermal dysplasia, type 1 (ED1) EDA_HUMAN 299 G S 1rj7 E 71 0 0 Ectodermal dysplasia, type 1 (ED1) EDA_HUMAN 252 H L 1rj8 A 27 24.8 0 Ectodermal dysplasia, type 1 (ED1) EDA_HUMAN 252 H Y 1rj8 A 27 24.8 0 Ectodermal dysplasia, type 1 (ED1) EDA_HUMAN 360 I N 1rj7 E 132 0 0 Ectodermal dysplasia, type 1 (ED1) EDA_HUMAN 373 M I 1rj7 E 145 0 0 Ectodermal dysplasia, type 1 (ED1) EDA_HUMAN 372 N D 1rj7 F 144 22.6 22.6 Ectodermal dysplasia, type 1 (ED1) EDA_HUMAN 306 Q H 1rj7 E 78 14 0 Ectodermal dysplasia, type 1 (ED1) EDA_HUMAN 358 Q E 1rj7 G 130 24.8 24.8 Ectodermal dysplasia, type 1 (ED1) EDA_HUMAN 357 R P 1rj8 D 130 56.4 56.4 Ectodermal dysplasia, type 1 (ED1) EDA_HUMAN 374 S R 1rj8 B 147 17.7 17.7 Ectodermal dysplasia, type 1 (ED1) EDA_HUMAN 378 T M 1rj7 E 150 0 0 Ectodermal dysplasia, type 1 (ED1) EDA_HUMAN 378 T P 1rj7 E 150 0 0 Ectodermal dysplasia, type 1 (ED1) EDA_HUMAN 307 V G 1rj7 E 79 0.2 0.2 Ectodermal dysplasia, type 1 (ED1) EDA_HUMAN 274 W G 1rj8 B 49 2.4 2.4 Ectodermal dysplasia, type 1 (ED1) EDA_HUMAN 320 Y C 1rj8 A 93 0 0 Ectodermal dysplasia, type 1 (ED1) EDA_HUMAN 343 Y C 1rj8 D 116 63.1 30.9 Ectodermal dysplasia, type 1 (ED1) EGFR_HUMAN 709 E A 2eb2 A 21 35.6 35.6 Lung cancer EGFR_HUMAN 709 E K 2eb2 A 21 35.6 35.6 Lung cancer EGFR_HUMAN 734 E K 2jiv A 40 28.2 28.2 Lung cancer EGFR_HUMAN 719 G A 2jiv A 25 4 4 Lung cancer EGFR_HUMAN 719 G C 2jiv A 25 4 4 Lung cancer EGFR_HUMAN 719 G D 2jiv A 25 4 4 Lung cancer EGFR_HUMAN 719 G S 2jiv A 25 4 4 Lung cancer EGFR_HUMAN 724 G S 2rfe B 26 0 0 Lung cancer EGFR_HUMAN 873 G E 1m17 A 184 51.7 51.7 Lung cancer EGFR_HUMAN 747 L F 2gs7 B 55 1.2 1.2 Lung cancer EGFR_HUMAN 833 L V 2j5e A 138 0.3 0.3 Lung cancer EGFR_HUMAN 858 L M 2jit B 163 0.2 0.2 Lung cancer EGFR_HUMAN 858 L R 2jit B 163 0.2 0.2 Lung cancer EGFR_HUMAN 861 L Q 2rfe B 163 0.8 0.8 Lung cancer EGFR_HUMAN 787 Q R 2eb2 A 99 0 0 Lung cancer EGFR_HUMAN 748 R P 2rfd B 50 26.3 26.3 Lung cancer EGFR_HUMAN 790 T M 2j5e A 95 0.6 0.6 Lung cancer EGFR_HUMAN 834 V L 1m17 A 145 0 0 Lung cancer EGLN1_HUMAN 317 P R 3hqr A 137 38.1 7.8 Erythrocytosis familial type 3 (ECYT3) EGLN1_HUMAN 371 R H 3oui A 192 28.2 28.2 Erythrocytosis familial type 3 (ECYT3) EHMT1_HUMAN 1142 Y F 2igq A 161 0 0 A breast cancer sample EI2BA_HUMAN 208 N Y 3ecs H 208 9.6 9.6 Leukodystrophy with vanishing white matter (VWM) EI2BE_HUMAN 650 E K 3jui A 111 10.8 10.8 Leukodystrophy with vanishing white matter (VWM) EI2BE_HUMAN 628 W R 3jui A 89 3.1 3.1 Leukodystrophy with vanishing white matter (VWM) ELNE_HUMAN 32 G V 2rg3 A 3 34.7 34.7 Cyclic haematopoiesis (CH) ELNE_HUMAN 191 R Q 3q76 A 162 56.9 56.9 Cyclic haematopoiesis (CH) ELNE_HUMAN 177 V F 1ppg E 148 3.2 3.2 Cyclic haematopoiesis (CH) EMD_HUMAN 54 S F 1jei A 53 142.5 142.5 X-linked Emery-Dreifuss muscular dystrophy (X-EDMD) EPHA3_HUMAN 806 D N 2qo9 A 232 0.5 0.5 A colorectal cancer sample EPHA3_HUMAN 766 G E 2qob A 163 41.5 41.5 A lung adenocarcinoma sample EPHA3_HUMAN 621 I L 2qoc A 18 11.7 11.7 A colorectal cancer sample EPHA5_HUMAN 856 T I 2r2p A 205 8.9 8.9 A lung squamous cell carcinoma sample EPHA8_HUMAN 860 P L 3kul A 276 13 13 A metastatic melanoma sample EPO_HUMAN 149 P Q 1eer A 122 42.9 42.9 An hepatocellular carcinoma ERBB3_HUMAN 104 V M 1m6b A 85 1 1 An ovarian mucinous carcinoma sample ERBB4_HUMAN 303 S Y 3u2p A 278 27.9 27.9 A lung squamous cell carcinoma sample ERBB4_HUMAN 140 T I 3u2p A 115 2.7 2.7 A colorectal adenocarcinoma sample ERCC1_HUMAN 231 F L 1z00 A 13 42.9 0.6 Cerebro-oculo-facio-skeletal syndrome type 4 (COFS4) ERN1_HUMAN 244 N S 2hz6 A 223 20 20 A renal clear cell carcinoma sample ERR2_HUMAN 110 A V 1lo1 A 14 4.3 4.3 Non-syndromic sensorineural deafness autosomal recessive type 35 (DFNB35) ETFA_HUMAN 116 G R 2a1t R 116 0 0 Glutaric aciduria type 2A (GA2A) ETFA_HUMAN 266 T M 2a1u A 266 80 18.9 Glutaric aciduria type 2A (GA2A) ETFA_HUMAN 157 V G 1efv A 139 27 6.4 Glutaric aciduria type 2A (GA2A) ETFB_HUMAN 128 D N 2a1u B 128 49.6 11.2 Glutaric aciduria type 2B (GA2B) ETFB_HUMAN 164 R Q 2a1t S 164 12.4 4.1 Glutaric aciduria type 2B (GA2B) F13A_HUMAN 682 R H 1ggu A 681 60 60 F13A deficiency F16P1_HUMAN 177 A D 1fta A 176 0 0 Fructose-1,6-bisphosphatase deficiency (FBPD) F16P1_HUMAN 194 F S 2fix A 194 0 0 Fructose-1,6-bisphosphatase deficiency (FBPD) F16P1_HUMAN 164 G S 1fta A 163 0 0 Fructose-1,6-bisphosphatase deficiency (FBPD) F16P1_HUMAN 284 P R 2fix A 284 0 0 Fructose-1,6-bisphosphatase deficiency (FBPD) FA11_HUMAN 430 A V 1xxf A 43 1 1 F11 deficiency FA11_HUMAN 565 E K 1zrk A 178 53.6 53.6 F11 deficiency FA11_HUMAN 460 F V 1xx9 B 73 35.4 35.4 F11 deficiency FA11_HUMAN 418 G V 1xx9 A 31 0 0 F11 deficiency FA11_HUMAN 618 I S 1xxd B 231 0.4 0.4 F11 deficiency FA11_HUMAN 538 P L 1zrk A 151 31 31 F11 deficiency FA11_HUMAN 594 S R 1xxf B 207 9.3 2 F11 deficiency FA11_HUMAN 404 T N 1xx9 A 17 0 0 F11 deficiency FA11_HUMAN 493 T I 3bg8 A 106 38 38 F11 deficiency FA11_HUMAN 587 W S 2f83 A 587 11.5 11.5 F11 deficiency FA11_HUMAN 511 Y H 1xx9 A 124 8.1 8.1 F11 deficiency FA11_HUMAN 255 C Y 2f83 A 255 0 0 F11 deficiency FA11_HUMAN 46 C F 2f83 A 46 0 0 F11 deficiency FA11_HUMAN 56 C R 2f83 A 56 0 0 F11 deficiency FA11_HUMAN 34 D H 2f83 A 34 63.7 63.7 F11 deficiency FA11_HUMAN 341 E K 2j8j B 52 62.3 22.5 F11 deficiency FA11_HUMAN 301 F L 2f83 A 301 0 0 F11 deficiency FA11_HUMAN 263 G E 2f83 A 263 3.2 3.2 F11 deficiency FA11_HUMAN 101 K R 2f83 A 101 6 6 F11 deficiency FA11_HUMAN 270 K I 2f83 A 270 79.1 79.1 F11 deficiency FA11_HUMAN 320 L P 2j8l A 31 22.7 22.7 F11 deficiency FA11_HUMAN 244 Q R 2f83 A 244 32 32 F11 deficiency FA11_HUMAN 326 R C 2f83 A 326 16 16 F11 deficiency FA11_HUMAN 266 S N 2f83 A 266 61 61 F11 deficiency FA11_HUMAN 322 T I 2f83 A 322 26.9 26.9 F11 deficiency FA11_HUMAN 246 W C 2f83 A 246 4.9 4.9 F11 deficiency FA11_HUMAN 151 Y C 2f83 A 151 1.6 1.6 F11 deficiency FA9_HUMAN 102 C R 1edm B 11 11.4 11.4 Recessive X-linked hemophilia B (HEMB) FA9_HUMAN 108 C S 1edm B 17 30.3 30.3 Recessive X-linked hemophilia B (HEMB) FA9_HUMAN 119 C F 1edm B 28 18.6 18.6 Recessive X-linked hemophilia B (HEMB) FA9_HUMAN 119 C R 1edm B 28 18.6 18.6 Recessive X-linked hemophilia B (HEMB) FA9_HUMAN 97 C S 1edm B 6 15.4 15.4 Recessive X-linked hemophilia B (HEMB) FA9_HUMAN 110 D N 1edm B 19 41.4 41.4 Recessive X-linked hemophilia B (HEMB) FA9_HUMAN 93 D G 1edm B 2 43.3 43.3 Recessive X-linked hemophilia B (HEMB) FA9_HUMAN 124 E K 1edm B 33 76.2 76.2 Recessive X-linked hemophilia B (HEMB) FA9_HUMAN 106 G D 1edm B 15 22.8 22.8 Recessive X-linked hemophilia B (HEMB) FA9_HUMAN 106 G S 1edm B 15 22.8 22.8 Recessive X-linked hemophilia B (HEMB) FA9_HUMAN 125 G E 1edm B 34 38.6 38.6 Recessive X-linked hemophilia B (HEMB) FA9_HUMAN 125 G R 1edm B 34 38.6 38.6 Recessive X-linked hemophilia B (HEMB) FA9_HUMAN 125 G V 1edm B 34 38.6 38.6 Recessive X-linked hemophilia B (HEMB) FA9_HUMAN 112 I S 1edm B 21 81 81 Recessive X-linked hemophilia B (HEMB) FA9_HUMAN 113 N K 1edm B 22 81.5 81.5 Recessive X-linked hemophilia B (HEMB) FA9_HUMAN 101 P R 1edm B 10 22.6 22.6 Recessive X-linked hemophilia B (HEMB) FA9_HUMAN 96 Q P 1edm B 5 29.5 29.5 Recessive X-linked hemophilia B (HEMB) FA9_HUMAN 115 Y C 1edm B 24 19.9 19.9 Recessive X-linked hemophilia B (HEMB) FA9_HUMAN 55 F C 1nl0 G 9 86.8 0.7 Recessive X-linked hemophilia B (HEMB) FA9_HUMAN 71 F S 1nl0 G 25 37.9 37.9 Recessive X-linked hemophilia B (HEMB) FA9_HUMAN 58 G A 1nl0 G 12 27.9 20.5 Recessive X-linked hemophilia B (HEMB) FA9_HUMAN 58 G R 1nl0 G 12 27.9 20.5 Recessive X-linked hemophilia B (HEMB) FA9_HUMAN 52 L S 1nl0 G 6 72.8 2.6 Recessive X-linked hemophilia B (HEMB) FA9_HUMAN 48 N I 1nl0 G 2 31.8 31.8 Recessive X-linked hemophilia B (HEMB) FA9_HUMAN 75 R Q 1nl0 G 29 19.4 19.4 Recessive X-linked hemophilia B (HEMB) FA9_HUMAN 49 S P 1nl0 G 3 57.3 57.3 Recessive X-linked hemophilia B (HEMB) FA9_HUMAN 84 T R 1nl0 G 38 0 0 Recessive X-linked hemophilia B (HEMB) FA9_HUMAN 91 Y C 1nl0 G 45 37 37 Recessive X-linked hemophilia B (HEMB) FA9_HUMAN 265 A T 1rfn A 39 0 0 Recessive X-linked hemophilia B (HEMB) FA9_HUMAN 279 A T 1rfn A 53 0 0 Recessive X-linked hemophilia B (HEMB) FA9_HUMAN 366 A D 3kcg H 140 5.4 5.1 Recessive X-linked hemophilia B (HEMB) FA9_HUMAN 397 A P 3lc5 A 171 0.1 0.1 Recessive X-linked hemophilia B (HEMB) FA9_HUMAN 436 A V 2wpk S 210 8.2 8.2 Recessive X-linked hemophilia B (HEMB) FA9_HUMAN 252 C S 3kcg H 26 5.6 0.8 Recessive X-linked hemophilia B (HEMB) FA9_HUMAN 252 C Y 3kcg H 26 5.6 0.8 Recessive X-linked hemophilia B (HEMB) FA9_HUMAN 268 C W 2wph S 42 5.6 5.6 Recessive X-linked hemophilia B (HEMB) FA9_HUMAN 382 C Y 3kcg H 156 0.1 0.1 Recessive X-linked hemophilia B (HEMB) FA9_HUMAN 396 C F 2wpj S 170 0.5 0.5 Recessive X-linked hemophilia B (HEMB) FA9_HUMAN 396 C S 2wpj S 170 0.5 0.5 Recessive X-linked hemophilia B (HEMB) FA9_HUMAN 407 C R 2wph S 181 8.4 0 Recessive X-linked hemophilia B (HEMB) FA9_HUMAN 407 C S 2wph S 181 8.4 0 Recessive X-linked hemophilia B (HEMB) FA9_HUMAN 435 C Y 2wpk S 209 3 0.6 Recessive X-linked hemophilia B (HEMB) FA9_HUMAN 410 D H 1rfn A 184 0 0 Recessive X-linked hemophilia B (HEMB) FA9_HUMAN 291 E V 2wpi S 65 21.2 21.2 Recessive X-linked hemophilia B (HEMB) FA9_HUMAN 433 E A 3kcg H 207 27.5 11.7 Recessive X-linked hemophilia B (HEMB) FA9_HUMAN 433 E K 3kcg H 207 27.5 11.7 Recessive X-linked hemophilia B (HEMB) FA9_HUMAN 395 F I 3kcg H 169 0.9 0.9 Recessive X-linked hemophilia B (HEMB) FA9_HUMAN 395 F L 3kcg H 169 0.9 0.9 Recessive X-linked hemophilia B (HEMB) FA9_HUMAN 424 F V 2wpm S 198 17.9 0.1 Recessive X-linked hemophilia B (HEMB) FA9_HUMAN 253 G E 2wpk S 27 1.3 1.3 Recessive X-linked hemophilia B (HEMB) FA9_HUMAN 253 G R 2wpk S 27 1.3 1.3 Recessive X-linked hemophilia B (HEMB) FA9_HUMAN 351 G D 2wpm S 125 0.2 0.2 Recessive X-linked hemophilia B (HEMB) FA9_HUMAN 357 G E 3kcg H 131 0.1 0.1 Recessive X-linked hemophilia B (HEMB) FA9_HUMAN 357 G R 3kcg H 131 0.1 0.1 Recessive X-linked hemophilia B (HEMB) FA9_HUMAN 363 G W 3kcg H 137 31.3 0 Recessive X-linked hemophilia B (HEMB) FA9_HUMAN 412 G E 3kcg H 186 0 0 Recessive X-linked hemophilia B (HEMB) FA9_HUMAN 413 G R 1rfn A 187 0 0 Recessive X-linked hemophilia B (HEMB) FA9_HUMAN 432 G S 3kcg H 206 36.5 0.7 Recessive X-linked hemophilia B (HEMB) FA9_HUMAN 432 G V 3kcg H 206 36.5 0.7 Recessive X-linked hemophilia B (HEMB) FA9_HUMAN 442 G E 2wpk S 216 2.8 0 Recessive X-linked hemophilia B (HEMB) FA9_HUMAN 442 G R 2wpk S 216 2.8 0 Recessive X-linked hemophilia B (HEMB) FA9_HUMAN 302 H R 3lc5 A 76 6.9 6.9 Recessive X-linked hemophilia B (HEMB) FA9_HUMAN 316 I F 1rfn A 90 0 0 Recessive X-linked hemophilia B (HEMB) FA9_HUMAN 344 I L 3lc3 A 118 29.4 28.5 Recessive X-linked hemophilia B (HEMB) FA9_HUMAN 390 I F 3kcg H 164 3.2 3.2 Recessive X-linked hemophilia B (HEMB) FA9_HUMAN 443 I T 1rfn A 217 3 3 Recessive X-linked hemophilia B (HEMB) FA9_HUMAN 454 I T 1rfn A 228 0 0 Recessive X-linked hemophilia B (HEMB) FA9_HUMAN 362 K E 3kcg H 136 77.5 32.1 Recessive X-linked hemophilia B (HEMB) FA9_HUMAN 387 K E 3kcg H 161 60.1 51.9 Recessive X-linked hemophilia B (HEMB) FA9_HUMAN 318 L R 1rfn A 92 0 0 Recessive X-linked hemophilia B (HEMB) FA9_HUMAN 321 L Q 1rfn A 95 0 0 Recessive X-linked hemophilia B (HEMB) FA9_HUMAN 383 L F 3lc3 A 157 39.8 39.8 Recessive X-linked hemophilia B (HEMB) FA9_HUMAN 383 L I 3lc3 A 157 39.8 39.8 Recessive X-linked hemophilia B (HEMB) FA9_HUMAN 394 M K 2wph S 168 1.7 1.7 Recessive X-linked hemophilia B (HEMB) FA9_HUMAN 283 N D 3kcg H 57 12.3 12.3 Recessive X-linked hemophilia B (HEMB) FA9_HUMAN 306 N S 2wpm S 80 38.5 38.5 Recessive X-linked hemophilia B (HEMB) FA9_HUMAN 333 P H 2wpm S 107 26.3 8 Recessive X-linked hemophilia B (HEMB) FA9_HUMAN 333 P T 2wpm S 107 26.3 8 Recessive X-linked hemophilia B (HEMB) FA9_HUMAN 414 P T 3lc5 A 188 0.6 0.6 Recessive X-linked hemophilia B (HEMB) FA9_HUMAN 241 Q H 2wpm S 15 1.8 1.8 Recessive X-linked hemophilia B (HEMB) FA9_HUMAN 241 Q K 2wpm S 15 1.8 1.8 Recessive X-linked hemophilia B (HEMB) FA9_HUMAN 294 R G 1rfn A 68 13.5 13.5 Recessive X-linked hemophilia B (HEMB) FA9_HUMAN 294 R Q 1rfn A 68 13.5 13.5 Recessive X-linked hemophilia B (HEMB) FA9_HUMAN 379 R G 2wpi S 153 39.4 39.4 Recessive X-linked hemophilia B (HEMB) FA9_HUMAN 379 R Q 2wpi S 153 39.4 39.4 Recessive X-linked hemophilia B (HEMB) FA9_HUMAN 404 R T 2wpm S 178 34.4 34.4 Recessive X-linked hemophilia B (HEMB) FA9_HUMAN 449 R Q 3lc3 A 223 37 37 Recessive X-linked hemophilia B (HEMB) FA9_HUMAN 449 R W 3lc3 A 223 37 37 Recessive X-linked hemophilia B (HEMB) FA9_HUMAN 411 S G 2wph S 185 9.3 0 Recessive X-linked hemophilia B (HEMB) FA9_HUMAN 411 S I 2wph S 185 9.3 0 Recessive X-linked hemophilia B (HEMB) FA9_HUMAN 430 S T 2wph S 204 4.2 1 Recessive X-linked hemophilia B (HEMB) FA9_HUMAN 342 T K 3lc3 A 116 0.6 0.6 Recessive X-linked hemophilia B (HEMB) FA9_HUMAN 342 T M 3lc3 A 116 0.6 0.6 Recessive X-linked hemophilia B (HEMB) FA9_HUMAN 426 T P 2wpk S 200 0.2 0.2 Recessive X-linked hemophilia B (HEMB) FA9_HUMAN 227 V D 2wpm S 1 0.3 0.3 Recessive X-linked hemophilia B (HEMB) FA9_HUMAN 227 V F 2wpm S 1 0.3 0.3 Recessive X-linked hemophilia B (HEMB) FA9_HUMAN 228 V F 2wpk S 2 8 8 Recessive X-linked hemophilia B (HEMB) FA9_HUMAN 228 V L 2wpk S 2 8 8 Recessive X-linked hemophilia B (HEMB) FA9_HUMAN 419 V E 2wpj S 193 17.1 5.6 Recessive X-linked hemophilia B (HEMB) FA9_HUMAN 356 W C 1rfn A 130 1.2 1.2 Recessive X-linked hemophilia B (HEMB) FA9_HUMAN 431 W G 2wpl S 205 12.6 0.7 Recessive X-linked hemophilia B (HEMB) FA9_HUMAN 431 W R 2wpl S 205 12.6 0.7 Recessive X-linked hemophilia B (HEMB) FA9_HUMAN 453 W R 1rfn A 227 6.8 6.8 Recessive X-linked hemophilia B (HEMB) FA9_HUMAN 450 Y C 2wph S 224 2.9 2.9 Recessive X-linked hemophilia B (HEMB) FA9_HUMAN 134 C Y 2wpk E 2 18.2 17.9 Recessive X-linked hemophilia B (HEMB) FA9_HUMAN 155 C F 3lc3 B 24 2.6 2.6 Recessive X-linked hemophilia B (HEMB) FA9_HUMAN 170 C F 2wpm E 38 3.7 3.7 Recessive X-linked hemophilia B (HEMB) FA9_HUMAN 178 C R 1rfn B 47 52.6 8.5 Recessive X-linked hemophilia B (HEMB) FA9_HUMAN 178 C W 1rfn B 47 52.6 8.5 Recessive X-linked hemophilia B (HEMB) FA9_HUMAN 139 G D 1rfn B 8 1 1 Recessive X-linked hemophilia B (HEMB) FA9_HUMAN 139 G S 1rfn B 8 1 1 Recessive X-linked hemophilia B (HEMB) FA9_HUMAN 160 G E 3lc5 B 29 8.4 8.4 Recessive X-linked hemophilia B (HEMB) FA9_HUMAN 136 I T 3kcg L 7 39.3 39.3 Recessive X-linked hemophilia B (HEMB) FA9_HUMAN 167 Q H 1rfn B 36 49.8 49.8 Recessive X-linked hemophilia B (HEMB) FA9_HUMAN 169 S C 2wpi E 37 26.6 26.6 Recessive X-linked hemophilia B (HEMB) FA9_HUMAN 191 R C 2wpj E 59 93.6 93.6 Recessive X-linked hemophilia B (HEMB) FA9_HUMAN 191 R H 2wpj E 59 93.6 93.6 Recessive X-linked hemophilia B (HEMB) FABP4_HUMAN 23 E D 2hnx A 27 31.3 31.3 A breast cancer sample FAK1_HUMAN 1044 K E 1k05 A 154 61.2 39.5 A metastatic melanoma sample FBLN4_HUMAN 57 E K 2kl7 A 5 67.7 67.7 Autosomal recessive cutis laxa type I (CL type I) FBX30_HUMAN 8 S C 2yre A 15 58.8 58.8 A colorectal cancer sample FBXW7_HUMAN 465 R C 2ovq B 203 16.2 6.3 A acute lymphoblastic leukemia cell line FBXW7_HUMAN 465 R H 2ovq B 203 16.2 6.3 A colorectal cancer sample FBXW7_HUMAN 505 R L 2ovr B 243 24.4 16.6 An ovarian cancer cell line FBXW7_HUMAN 582 S L 2ovp B 320 29.7 29.7 A colorectal cancer sample FCN1_HUMAN 175 Y C 2d39 A 63 0 0 A colorectal cancer sample FER_HUMAN 460 W C 2kk6 A 19 5.2 5.2 A lung small cell carcinoma sample FGF10_HUMAN 106 C F 1nun A 43 18.8 18.8 Lacrimo-auriculo-dento-digital syndrome (LADDS) FGF10_HUMAN 156 I R 1nun A 93 76.1 11 Lacrimo-auriculo-dento-digital syndrome (LADDS) FGF23_HUMAN 71 S G 2p39 A 47 0 0 Hyperphosphatemic familial tumoral calcinosis (HFTC) FGF8_HUMAN 89 K E 2fdb M 49 53.6 53.6 Idiopathic hypogonadotropic hypogonadism (IHH) FGF8_HUMAN 116 R G 2fdb M 76 7.9 7.9 Kallmann syndrome type 6 (KAL6) FGFR1_HUMAN 520 A T 3ky2 A 72 2.4 2.4 Kallmann syndrome type 2 (KAL2) FGFR1_HUMAN 687 G R 1agw A 232 0 0 Kallmann syndrome type 2 (KAL2) FGFR1_HUMAN 703 G R 3gql A 255 94.5 94.5 Kallmann syndrome type 2 (KAL2) FGFR1_HUMAN 703 G S 3gql A 255 94.5 94.5 Kallmann syndrome type 2 (KAL2) FGFR1_HUMAN 621 H R 3gqi A 173 0 0 Kallmann syndrome type 2 (KAL2) FGFR1_HUMAN 538 I V 3c4f A 75 3.7 0.2 Kallmann syndrome type 2 (KAL2) FGFR1_HUMAN 693 I F 1agw A 238 0 0 Kallmann syndrome type 2 (KAL2) FGFR1_HUMAN 719 M R 3kxx A 271 3.8 3.8 Kallmann syndrome type 2 (KAL2) FGFR1_HUMAN 724 N K 3kxx A 276 56.5 56.5 Idiopathic hypogonadotropic hypogonadism (IHH) FGFR1_HUMAN 722 P H 3gql A 274 4.4 4.4 Idiopathic hypogonadotropic hypogonadism (IHH) FGFR1_HUMAN 722 P S 3gql A 274 4.4 4.4 Kallmann syndrome type 2 (KAL2) FGFR1_HUMAN 745 P S 3gqi A 297 12.6 11 Kallmann syndrome type 2 (KAL2) FGFR1_HUMAN 622 R G 3gqi A 174 5.7 5.7 Kallmann syndrome type 2 (KAL2) FGFR1_HUMAN 622 R Q 3gqi A 174 5.7 5.7 Kallmann syndrome type 2 (KAL2) FGFR1_HUMAN 685 S F 2fgi A 230 4.2 4.2 Kallmann syndrome type 2 (KAL2) FGFR1_HUMAN 607 V M 3gqi A 159 0 0 Kallmann syndrome type 2 (KAL2) FGFR1_HUMAN 664 V L 3js2 B 216 2.1 2.1 A lung large cell carcinoma sample FGFR1_HUMAN 666 W R 3rhx B 207 0.7 0.7 Kallmann syndrome type 2 (KAL2) FGFR1_HUMAN 167 A S 1cvs C 27 57.5 1 Kallmann syndrome type 2 (KAL2) FGFR1_HUMAN 343 A V 1cvs C 203 0 0 Kallmann syndrome type 2 (KAL2) FGFR1_HUMAN 178 C S 1cvs C 38 0 0 Kallmann syndrome type 2 (KAL2) FGFR1_HUMAN 277 C Y 1cvs D 137 0.1 0.1 Kallmann syndrome type 2 (KAL2) FGFR1_HUMAN 224 D H 1fq9 C 84 0.5 0.5 Kallmann syndrome type 2 (KAL2) FGFR1_HUMAN 274 E G 1evt D 134 56.7 25.2 Kallmann syndrome type 2 (KAL2) FGFR1_HUMAN 237 G D 1cvs D 97 32.2 32.2 Kallmann syndrome type 2 (KAL2) FGFR1_HUMAN 270 G D 1fq9 C 130 26 26 Kallmann syndrome type 2 (KAL2) FGFR1_HUMAN 300 I T 1cvs C 160 47.4 12.3 Non-syndromic trigonocephaly FGFR1_HUMAN 245 L P 1cvs C 105 2.2 2.2 Kallmann syndrome type 2 (KAL2) FGFR1_HUMAN 330 N I 1cvs D 190 64.7 64.7 Osteoglophonic dysplasia (OGD) FGFR1_HUMAN 252 P R 1evt D 112 66.3 30.3 Pfeiffer syndrome (PS) FGFR1_HUMAN 252 P T 1evt D 112 66.3 30.3 A lung bronchoalveolar carcinoma sample FGFR1_HUMAN 283 P R 1evt C 143 28.6 1.7 Kallmann syndrome type 2 (KAL2) FGFR1_HUMAN 250 R W 1evt C 110 61.7 1.4 Kallmann syndrome type 2 (KAL2) FGFR1_HUMAN 254 R Q 1cvs D 114 51.6 35.4 Kallmann syndrome type 2 (KAL2) FGFR1_HUMAN 332 S C 1cvs C 192 20 20 Kallmann syndrome type 2 (KAL2) FGFR1_HUMAN 346 S C 1cvs D 206 99.6 36.6 Kallmann syndrome type 2 (KAL2) FGFR1_HUMAN 273 V M 1evt D 133 3.4 3.4 Kallmann syndrome type 2 (KAL2) FGFR1_HUMAN 339 Y C 1cvs C 199 1.5 1.5 Kallmann syndrome type 2 (KAL2) FGFR1_HUMAN 101 C F 2cr3 A 71 0 0 Kallmann syndrome type 2 (KAL2) FGFR1_HUMAN 48 G S 2cr3 A 18 45.4 45.4 Idiopathic hypogonadotropic hypogonadism (IHH) FGFR1_HUMAN 97 G D 2cr3 A 67 29.5 29.5 Kallmann syndrome type 2 (KAL2) FGFR1_HUMAN 78 R C 2cr3 A 48 37 37 Kallmann syndrome type 2 (KAL2) FGFR1_HUMAN 102 V I 2cr3 A 72 35.2 35.2 Kallmann syndrome type 2 (KAL2) FGFR1_HUMAN 99 Y C 2cr3 A 69 0.5 0.5 Kallmann syndrome type 2 (KAL2) FGFR1_HUMAN 772 P S 3gql A 324 50.8 50.8 Kallmann syndrome type 2 (KAL2) FGFR2_HUMAN 337 A P 1djs A 191 27.5 27.5 Crouzon syndrome (CS) FGFR2_HUMAN 344 A G 1e0o B 197 0 0 Crouzon syndrome (CS) FGFR2_HUMAN 344 A P 1e0o B 197 0 0 Crouzon syndrome (CS) FGFR2_HUMAN 362 A S 1ev2 H 216 60.7 60.7 Crouzon syndrome (CS) FGFR2_HUMAN 278 C F 1nun B 139 0 0 Crouzon syndrome (CS) FGFR2_HUMAN 278 C Y 1nun B 139 0 0 Crouzon syndrome (CS) FGFR2_HUMAN 342 C F 1djs A 196 0 0 Crouzon syndrome (CS) FGFR2_HUMAN 342 C G 1djs A 196 0 0 Pfeiffer syndrome (PS) FGFR2_HUMAN 342 C R 1djs A 196 0 0 Antley-Bixler syndrome (ABS) FGFR2_HUMAN 342 C S 1djs A 196 0 0 Antley-Bixler syndrome (ABS) FGFR2_HUMAN 342 C W 1djs A 196 0 0 Crouzon syndrome (CS) FGFR2_HUMAN 342 C Y 1djs A 196 0 0 Crouzon syndrome (CS) FGFR2_HUMAN 283 D N 1nun B 144 40 7.8 A lung squamous cell carcinoma sample FGFR2_HUMAN 321 D A 1ii4 E 175 43 0.1 Pfeiffer syndrome (PS) FGFR2_HUMAN 276 F V 3oj2 C 138 0.5 0.5 Crouzon syndrome (CS) FGFR2_HUMAN 272 G V 1ev2 H 126 23.9 23.9 An ovarian serous carcinoma sample FGFR2_HUMAN 338 G E 1djs A 192 8.5 8.5 Crouzon syndrome (CS) FGFR2_HUMAN 172 A F 1djs A 26 67.4 7.5 Pfeiffer syndrome (PS) FGFR2_HUMAN 338 G R 1djs A 192 8.5 8.5 Crouzon syndrome (CS) FGFR2_HUMAN 288 I S 1ev2 H 142 3.5 0 Crouzon syndrome (CS) FGFR2_HUMAN 292 K E 1ii4 E 146 7.3 7.3 Crouzon syndrome (CS) FGFR2_HUMAN 331 N I 1ii4 E 185 44.1 44.1 Crouzon syndrome (CS) FGFR2_HUMAN 253 P R 3oj2 C 115 63.1 38 Apert syndrome (APRS) FGFR2_HUMAN 263 P L 1e0o B 116 1.4 1.4 Crouzon syndrome (CS) FGFR2_HUMAN 289 Q P 2fdb P 141 31.9 0 Crouzon syndrome (CS) FGFR2_HUMAN 203 R C 1wvz A 58 5.6 5.6 Breast cancer samples FGFR2_HUMAN 252 S F 1ii4 E 106 25.8 10.5 Apert syndrome (APRS) FGFR2_HUMAN 252 S L 1ii4 E 106 25.8 10.5 Crouzon syndrome (CS) FGFR2_HUMAN 252 S W 1ii4 E 106 25.8 10.5 Apert syndrome (APRS) FGFR2_HUMAN 267 S P 1djs A 121 66 18.3 Crouzon syndrome (CS) FGFR2_HUMAN 347 S C 1nun B 206 87.2 30.4 Crouzon syndrome (CS) FGFR2_HUMAN 351 S C 1ev2 H 205 9.9 9.9 Antley-Bixler syndrome (ABS) FGFR2_HUMAN 354 S C 1e0o D 207 33.4 32.7 Crouzon syndrome (CS) FGFR2_HUMAN 354 S Y 1e0o D 207 33.4 32.7 Crouzon syndrome (CS) FGFR2_HUMAN 341 T P 2fdb P 193 6.4 0 Crouzon syndrome (CS) FGFR2_HUMAN 359 V F 1djs A 213 11 3.4 Crouzon syndrome (CS) FGFR2_HUMAN 290 W C 1djs A 144 0 0 Pfeiffer syndrome (PS) FGFR2_HUMAN 290 W G 1djs A 144 0 0 Crouzon syndrome (CS) FGFR2_HUMAN 290 W R 1djs A 144 0 0 Crouzon syndrome (CS) FGFR2_HUMAN 281 Y C 1ii4 E 135 62.4 20.6 Crouzon syndrome (CS) FGFR2_HUMAN 328 Y C 1djs A 182 46.5 46.5 Crouzon syndrome (CS) FGFR2_HUMAN 340 Y C 1nun B 199 1.3 1.3 Pfeiffer syndrome (PS) FGFR2_HUMAN 340 Y H 1nun B 199 1.3 1.3 Crouzon syndrome (CS) FGFR2_HUMAN 628 A T 2psq A 230 0 0 Lacrimo-auriculo-dento-digital syndrome (LADDS) FGFR2_HUMAN 648 A T 2psq B 250 0 0 Lacrimo-auriculo-dento-digital syndrome (LADDS) FGFR2_HUMAN 565 E G 2py3 A 121 15.1 15.1 Pfeiffer syndrome (PS) FGFR2_HUMAN 663 G E 2pvy D 219 46.5 3 Pfeiffer syndrome (PS) FGFR2_HUMAN 526 K E 2pzp B 82 50.1 26.9 Familial scaphocephaly syndrome (FSPC) FGFR2_HUMAN 641 K R 3b2t A 184 5 5 Pfeiffer syndrome (PS) FGFR2_HUMAN 549 N H 2psq B 151 3.2 3.2 Crouzon syndrome (CS) FGFR2_HUMAN 612 R T 3b2t B 155 20.7 20.7 A lung adenocarcinoma sample FGFR2_HUMAN 678 R G 3b2t A 221 47.3 7.8 Crouzon syndrome (CS) FGFR2_HUMAN 301 Y C 1nun B 162 54.4 54.4 Crouzon syndrome (CS) FGFR3_HUMAN 228 C R 1ry7 B 197 0.1 0.1 A colorectal adenocarcinoma sample FGFR3_HUMAN 322 E K 1ry7 B 291 37 14.8 Colorectal cancer FGFR3_HUMAN 250 P R 1ry7 B 219 63.7 37.7 Muenke syndrome (MNKS) FGFR3_HUMAN 248 R C 1ry7 B 217 63.4 10.7 Bladder cancer FGFR3_HUMAN 249 S C 1ry7 B 218 23.7 22.8 Bladder cancer FHL1_HUMAN 132 C F 1x63 A 49 41.8 41.8 X-linked childhood-onset reducing body myopathy (RBM) FHL1_HUMAN 153 C R 1x63 A 70 4.5 4.5 X-linked childhood-onset reducing body myopathy (RBM) FHL1_HUMAN 153 C Y 1x63 A 70 4.5 4.5 X-linked childhood-onset reducing body myopathy (RBM) FHL1_HUMAN 123 H Y 1x63 A 40 17.3 17.3 X-linked childhood-onset reducing body myopathy (RBM) FHL1_HUMAN 122 W S 1x63 A 39 13.6 13.6 X-linked dominant scapuloperoneal myopathy FIBB_HUMAN 430 G D 1fzf E 267 0.3 0.3 Congenital afibrinogenemia FIBB_HUMAN 383 L R 1n86 E 220 0.1 0.1 Congenital afibrinogenemia FIBB_HUMAN 196 R C 1n8e B 33 22.8 22.8 Congenital afibrinogenemia FMR1_HUMAN 304 I N 2qnd B 89 7.3 2 Fragile X syndrome FOXC2_HUMAN 125 S L 1d5v A 57 66.4 66.4 Lymphedema-distichiasis syndrome (LYD) FOXP2_HUMAN 553 R H 2as5 F 52 51.4 12.6 Speech-language disorder 1 (SPCH1) FRDA_HUMAN 122 D Y 3t3t A 41 34.4 34.4 Friedreich ataxia (FA) FRDA_HUMAN 130 G V 3t3j A 49 4.4 4.4 Friedreich ataxia (FA) FRDA_HUMAN 154 I F 1ekg A 71 0 0 Friedreich ataxia (FA) FRDA_HUMAN 106 L S 1ekg A 23 0 0 Friedreich ataxia (FA) FRDA_HUMAN 182 L F 1ekg A 99 0 0 Friedreich ataxia (FA) FRDA_HUMAN 198 L R 3t3k A 117 10.7 10.7 Friedreich ataxia (FA) FRDA_HUMAN 165 R C 3t3x A 84 17.1 17.1 Friedreich ataxia (FA) FRDA_HUMAN 155 W R 3t3x B 74 31.4 3.5 Friedreich ataxia (FA) FRIL_HUMAN 96 A T 2fg8 A 95 0 0 Neuroferritinopathy FSHB_HUMAN 69 C G 1fl7 B 51 23.9 0 Isolated follicle-stimulating hormone deficiency (IFSHD) FSHR_HUMAN 189 A V 1xwd C 173 0 0 Ovarian dysgenesis 1 (ODG1) FSHR_HUMAN 224 D V 1xwd C 208 6.6 6.6 Ovarian dysgenesis 1 (ODG1) FSHR_HUMAN 160 I T 1xwd C 144 0.5 0.5 Ovarian dysgenesis 1 (ODG1) FSHR_HUMAN 128 S Y 1xwd C 112 13.8 13.8 Ovarian hyperstimulation syndrome (OHSS) FTM_HUMAN 695 A P 2yrb A 108 23.6 23.6 Joubert syndrome type 7 (JBTS7) FTM_HUMAN 615 T P 2yrb A 28 52.8 52.8 Joubert syndrome type 7 (JBTS7) FUMH_HUMAN 117 A P 3e04 A 97 0 0 Multiple cutaneous and uterine leiomyomata (MCUL1) FUMH_HUMAN 308 A T 3e04 D 288 1.4 1.4 Fumarase deficiency (FD) FUMH_HUMAN 425 D V 3e04 D 405 42 14.1 Fumarase deficiency (FD) FUMH_HUMAN 312 F C 3e04 A 292 48.6 10.8 Fumarase deficiency (FD) FUMH_HUMAN 282 G V 3e04 A 262 19.6 2.6 Multiple cutaneous and uterine leiomyomata (MCUL1) FUMH_HUMAN 180 H R 3e04 A 160 22.1 22.1 Multiple cutaneous and uterine leiomyomata (MCUL1) FUMH_HUMAN 230 K R 3e04 D 210 0.6 0.1 Fumarase deficiency (FD) FUMH_HUMAN 328 M R 3e04 A 308 0 0 Hereditary leiomyomatosis and renal cell cancer (HLRCC) FUMH_HUMAN 107 N T 3e04 B 87 0.4 0.4 Multiple cutaneous and uterine leiomyomata (MCUL1) FUMH_HUMAN 185 Q R 3e04 A 165 12.7 3.9 Multiple cutaneous and uterine leiomyomata (MCUL1) FUMH_HUMAN 233 R H 3e04 A 213 32.4 0.8 Multiple cutaneous and uterine leiomyomata (MCUL1) FXR1_HUMAN 233 A T 2cpq A 29 0 0 A breast cancer sample FYN_HUMAN 243 V L 1aou F 101 2.9 2.9 A lung squamous cell carcinoma sample FYN_HUMAN 410 G R 2dq7 X 150 48.7 48.7 A metastatic melanoma sample G6PD_HUMAN 410 G D 1qki E 409 70 1.5 Chronic non-spherocytic hemolytic anemia (CNSHA) G6PD_HUMAN 198 R P 2bhl A 172 1.3 1.3 Chronic non-spherocytic hemolytic anemia (CNSHA) G6PD_HUMAN 387 R C 1qki E 386 11.6 11.6 Chronic non-spherocytic hemolytic anemia (CNSHA) G6PD_HUMAN 439 R P 1qki E 438 20.5 2.9 Chronic non-spherocytic hemolytic anemia (CNSHA) G6PD_HUMAN 394 V L 1qki E 393 1.4 1.4 Chronic non-spherocytic hemolytic anemia (CNSHA) G6PI_HUMAN 300 A P 1iat A 299 0 0 Hereditary nonspherocytic hemolytic anemia (HA) G6PI_HUMAN 539 D N 1jiq A 539 61.3 14.8 Hereditary nonspherocytic hemolytic anemia (HA) G6PI_HUMAN 495 E K 1jlh A 495 1 1 Hereditary nonspherocytic hemolytic anemia (HA) G6PI_HUMAN 159 G S 1jlh A 159 11.8 11.8 Hereditary nonspherocytic hemolytic anemia (HA) G6PI_HUMAN 20 H P 1nuh A 20 24.4 24.4 Hereditary nonspherocytic hemolytic anemia (HA) G6PI_HUMAN 389 H R 1nuh A 389 86.4 8.3 Hereditary nonspherocytic hemolytic anemia (HA) G6PI_HUMAN 525 I T 1iat A 524 25.3 0 Hereditary nonspherocytic hemolytic anemia (HA) G6PI_HUMAN 339 L P 1iat A 338 0 0 Hereditary nonspherocytic hemolytic anemia (HA) G6PI_HUMAN 487 L F 1iat A 486 0 0 Hereditary nonspherocytic hemolytic anemia (HA) G6PI_HUMAN 517 L V 1jlh A 517 62.4 2.5 Hereditary nonspherocytic hemolytic anemia (HA) G6PI_HUMAN 343 Q R 1jiq A 343 60.7 8.6 Hereditary nonspherocytic hemolytic anemia (HA) G6PI_HUMAN 273 R H 1jlh A 273 2.8 2.8 Hereditary nonspherocytic hemolytic anemia (HA) G6PI_HUMAN 347 R C 1nuh A 347 34.7 16.8 Hereditary nonspherocytic hemolytic anemia (HA) G6PI_HUMAN 347 R H 1nuh A 347 34.7 16.8 Hereditary nonspherocytic hemolytic anemia (HA) G6PI_HUMAN 472 R H 1iri A 472 13.9 12.8 Hereditary nonspherocytic hemolytic anemia (HA) G6PI_HUMAN 75 R G 1iri B 75 14.7 14.7 Hereditary nonspherocytic hemolytic anemia (HA) G6PI_HUMAN 83 R W 1jlh B 83 32.3 32.3 Hereditary nonspherocytic hemolytic anemia (HA) G6PI_HUMAN 278 S L 1iat A 277 3.2 3.2 Hereditary nonspherocytic hemolytic anemia (HA) G6PI_HUMAN 195 T I 1iri A 195 3.6 3.6 Hereditary nonspherocytic hemolytic anemia (HA) G6PI_HUMAN 224 T M 1iri A 224 36.5 6.4 Hereditary nonspherocytic hemolytic anemia (HA) G6PI_HUMAN 375 T R 1iat A 374 11.1 0.1 Hereditary nonspherocytic hemolytic anemia (HA) G6PI_HUMAN 5 T I 1jiq A 5 16.1 16.1 Hereditary nonspherocytic hemolytic anemia (HA) G6PI_HUMAN 101 V M 1jiq A 101 2.4 2.4 Hereditary nonspherocytic hemolytic anemia (HA) GALE_HUMAN 25 A V 1hzj A 25 48.8 48.8 Epimerase-deficiency galactosemia (EDG) GALE_HUMAN 103 D G 1i3k A 103 24.8 21.6 Epimerase-deficiency galactosemia (EDG) GALE_HUMAN 69 D E 1ek6 B 69 43.2 43.2 Epimerase-deficiency galactosemia (EDG) GALE_HUMAN 165 E K 1ek6 A 165 0 0 Epimerase-deficiency galactosemia (EDG) GALE_HUMAN 302 G D 1ek6 B 302 21.2 21.2 Epimerase-deficiency galactosemia (EDG) GALE_HUMAN 319 G E 1hzj B 319 68.3 68.3 Epimerase-deficiency galactosemia (EDG) GALE_HUMAN 90 G E 1i3k A 90 39.7 39.7 Epimerase-deficiency galactosemia (EDG) GALE_HUMAN 257 K R 1hzj B 257 8.2 8.2 Epimerase-deficiency galactosemia (EDG) GALE_HUMAN 183 L P 1ek5 A 183 0 0 Epimerase-deficiency galactosemia (EDG) GALE_HUMAN 313 L M 1ek5 A 313 30.4 30.4 Epimerase-deficiency galactosemia (EDG) GALE_HUMAN 34 N S 1i3n A 34 42.3 42.3 Epimerase-deficiency galactosemia (EDG) GALE_HUMAN 169 R W 1ek6 A 169 35.9 35.1 Epimerase-deficiency galactosemia (EDG) GALE_HUMAN 239 R W 1i3m A 239 13.9 13.9 Epimerase-deficiency galactosemia (EDG) GALE_HUMAN 335 R H 1i3l B 335 25 25 Epimerase-deficiency galactosemia (EDG) GALE_HUMAN 40 R C 1hzj A 40 49.1 49.1 Epimerase-deficiency galactosemia (EDG) GALE_HUMAN 94 V M 1ek6 B 94 15.3 15.3 Epimerase-deficiency galactosemia (EDG) GALK1_HUMAN 198 A V 1wuu C 205 0 0 Galactosemia II GALK1_HUMAN 384 A P 1wuu C 391 10.5 10.5 Galactosemia II GALK1_HUMAN 346 G S 1wuu C 353 40.9 40.9 Galactosemia II GALK1_HUMAN 349 G S 1wuu C 356 3.8 3.8 Galactosemia II GALK1_HUMAN 36 G R 1wuu D 43 0.4 0.4 Galactosemia II GALK1_HUMAN 44 H Y 1wuu C 51 4.6 4.6 Galactosemia II GALK1_HUMAN 28 P T 1wuu C 35 6 6 Galactosemia II GALK1_HUMAN 239 R Q 1wuu D 246 5 5 Galactosemia II GALK1_HUMAN 68 R C 1wuu D 75 19.4 19.4 Galactosemia II GALK1_HUMAN 288 T M 1wuu C 295 0 0 Galactosemia II GALK1_HUMAN 32 V M 1wuu C 39 0 0 Galactosemia II GAMT_HUMAN 54 A P 3orh A 54 0.1 0.1 Guanidinoacetate methyltransferase deficiency (GAMT deficiency) GAMT_HUMAN 169 C Y 3orh A 169 1.4 1.4 Guanidinoacetate methyltransferase deficiency (GAMT deficiency) GAMT_HUMAN 51 H P 3orh A 51 36.9 36.9 Guanidinoacetate methyltransferase deficiency (GAMT deficiency) GAMT_HUMAN 197 L P 3orh A 197 0 0 Guanidinoacetate methyltransferase deficiency (GAMT deficiency) GAMT_HUMAN 50 M L 3orh A 50 2 2 Guanidinoacetate methyltransferase deficiency (GAMT deficiency) GAMT_HUMAN 20 W S 3orh A 20 5.3 5.3 Guanidinoacetate methyltransferase deficiency (GAMT deficiency) GAN_HUMAN 51 A P 3hve B 53 28.9 17.8 Giant axonal neuropathy (GAN) GAN_HUMAN 86 I F 2ppi A 104 0 0 Giant axonal neuropathy (GAN) GAN_HUMAN 15 R S 3hve A 17 49.8 24.6 Giant axonal neuropathy (GAN) GAN_HUMAN 52 S G 3hve B 54 0.2 0.2 Giant axonal neuropathy (GAN) GAN_HUMAN 79 S L 3hve A 81 46.3 46.3 Giant axonal neuropathy (GAN) GAN_HUMAN 82 V F 3hve A 84 9.2 9.2 Giant axonal neuropathy (GAN) GAN_HUMAN 89 Y C 3hve B 91 16.7 4.6 Giant axonal neuropathy (GAN) GAN_HUMAN 138 R H 3hve A 140 9.8 9.8 Giant axonal neuropathy (GAN) GAN_HUMAN 195 V F 3hve A 197 33.5 33.5 Giant axonal neuropathy (GAN) GCDH_HUMAN 122 A V 1siq A 76 0.3 0.3 Glutaric aciduria type 1 (GA1) GCDH_HUMAN 195 A T 2r0n A 151 0.8 0.8 Glutaric aciduria type 1 (GA1) GCDH_HUMAN 293 A T 1sir A 249 0.2 0.2 Glutaric aciduria type 1 (GA1) GCDH_HUMAN 349 A T 1sir A 305 31.2 0.9 Glutaric aciduria type 1 (GA1) GCDH_HUMAN 382 A T 1siq A 336 0 0 Glutaric aciduria type 1 (GA1) GCDH_HUMAN 421 A T 1siq A 375 25.7 0 Glutaric aciduria type 1 (GA1) GCDH_HUMAN 421 A V 1siq A 375 25.7 0 Glutaric aciduria type 1 (GA1) GCDH_HUMAN 433 A E 1sir A 389 57.6 1.1 Glutaric aciduria type 1 (GA1) GCDH_HUMAN 115 C Y 2r0m A 71 12 12 Glutaric aciduria type 1 (GA1) GCDH_HUMAN 308 C S 1siq A 262 0 0 Glutaric aciduria type 1 (GA1) GCDH_HUMAN 375 C R 2r0n A 331 0.5 0.5 Glutaric aciduria type 1 (GA1) GCDH_HUMAN 365 E K 2r0m A 321 30.8 15.9 Glutaric aciduria type 1 (GA1) GCDH_HUMAN 414 E K 1sir A 370 15.8 15.8 Glutaric aciduria type 1 (GA1) GCDH_HUMAN 236 F L 1siq A 190 0 0 Glutaric aciduria type 1 (GA1) GCDH_HUMAN 101 G R 2r0n A 57 6.5 6.5 Glutaric aciduria type 1 (GA1) GCDH_HUMAN 178 G R 1siq A 132 0 0 Glutaric aciduria type 1 (GA1) GCDH_HUMAN 354 G R 1siq A 308 0 0 Glutaric aciduria type 1 (GA1) GCDH_HUMAN 354 G S 1siq A 308 0 0 Glutaric aciduria type 1 (GA1) GCDH_HUMAN 390 G A 1sir A 346 40.7 18.6 Glutaric aciduria type 1 (GA1) GCDH_HUMAN 390 G R 1sir A 346 40.7 18.6 Glutaric aciduria type 1 (GA1) GCDH_HUMAN 403 H R 1siq A 357 0 0 Glutaric aciduria type 1 (GA1) GCDH_HUMAN 179 L R 2r0n A 135 8.6 8.6 Glutaric aciduria type 1 (GA1) GCDH_HUMAN 283 L P 2r0n A 239 13.8 13.8 Glutaric aciduria type 1 (GA1) GCDH_HUMAN 309 L W 1siq A 263 4.2 1.7 Glutaric aciduria type 1 (GA1) GCDH_HUMAN 407 L P 2r0m A 363 0.4 0.4 Glutaric aciduria type 1 (GA1) GCDH_HUMAN 191 M T 1siq A 145 0.5 0.5 Glutaric aciduria type 1 (GA1) GCDH_HUMAN 266 M V 2r0m A 222 1.5 1.5 Glutaric aciduria type 1 (GA1) GCDH_HUMAN 392 N D 2r0n A 348 40.6 23.6 Glutaric aciduria type 1 (GA1) GCDH_HUMAN 406 N K 2r0n A 362 0.6 0.6 Glutaric aciduria type 1 (GA1) GCDH_HUMAN 278 P S 1sir A 234 62.5 62.5 Glutaric aciduria type 1 (GA1) GCDH_HUMAN 333 Q E 1siq A 287 57 0 Glutaric aciduria type 1 (GA1) GCDH_HUMAN 128 R G 2r0n A 84 7.2 7.2 Glutaric aciduria type 1 (GA1) GCDH_HUMAN 138 R G 1siq A 92 0.4 0.4 Glutaric aciduria type 1 (GA1) GCDH_HUMAN 161 R Q 2r0m A 117 18 18 Glutaric aciduria type 1 (GA1) GCDH_HUMAN 227 R P 1sir A 183 19.1 19.1 Glutaric aciduria type 1 (GA1) GCDH_HUMAN 257 R Q 1siq A 211 15.7 7.2 Glutaric aciduria type 1 (GA1) GCDH_HUMAN 257 R W 1siq A 211 15.7 7.2 Glutaric aciduria type 1 (GA1) GCDH_HUMAN 294 R W 1siq A 248 5.9 5.9 Glutaric aciduria type 1 (GA1) GCDH_HUMAN 313 R W 1siq A 267 28.1 15 Glutaric aciduria type 1 (GA1) GCDH_HUMAN 355 R C 2r0m A 311 27.3 27.3 Glutaric aciduria type 1 (GA1) GCDH_HUMAN 355 R H 2r0m A 311 27.3 27.3 Glutaric aciduria type 1 (GA1) GCDH_HUMAN 383 R C 2r0n A 339 46 14 Glutaric aciduria type 1 (GA1) GCDH_HUMAN 383 R H 2r0n A 339 46 14 Glutaric aciduria type 1 (GA1) GCDH_HUMAN 386 R Q 2r0n A 342 25.9 0.1 Glutaric aciduria type 1 (GA1) GCDH_HUMAN 402 R Q 1siq A 356 1.2 1 Glutaric aciduria type 1 (GA1) GCDH_HUMAN 402 R W 1siq A 356 1.2 1 Glutaric aciduria type 1 (GA1) GCDH_HUMAN 88 R C 2r0m A 44 45.1 23.8 Glutaric aciduria type 1 (GA1) GCDH_HUMAN 94 R L 1siq A 48 27.7 27.7 Glutaric aciduria type 1 (GA1) GCDH_HUMAN 139 S L 2r0n A 95 2.1 2.1 Glutaric aciduria type 1 (GA1) GCDH_HUMAN 305 S L 1sir A 261 0.4 0.4 Glutaric aciduria type 1 (GA1) GCDH_HUMAN 416 T I 2r0n A 372 30.5 20.3 Glutaric aciduria type 1 (GA1) GCDH_HUMAN 429 T M 2r0n A 385 65.3 7.5 Glutaric aciduria type 1 (GA1) GCDH_HUMAN 148 V I 1siq A 102 0 0 Glutaric aciduria type 1 (GA1) GCDH_HUMAN 400 V M 1siq A 354 0 0 Glutaric aciduria type 1 (GA1) GCDH_HUMAN 295 Y H 1siq A 249 0.2 0.2 Glutaric aciduria type 1 (GA1) GCH1_HUMAN 74 A V 1fb1 A 20 44.9 6.1 Dystonia type 5 (DYT5) GCH1_HUMAN 141 C R 1fb1 B 87 7.4 7.4 Dystonia type 5 (DYT5) GCH1_HUMAN 141 C W 1fb1 B 87 7.4 7.4 Dystonia type 5 (DYT5) GCH1_HUMAN 115 D N 1fb1 B 61 68.8 68.8 Dystonia type 5 (DYT5) GCH1_HUMAN 134 D V 1fb1 C 80 46.2 20.9 Dystonia type 5 (DYT5) GCH1_HUMAN 234 F S 1fb1 A 180 0 0 Dystonia type 5 (DYT5) GCH1_HUMAN 108 G D 1fb1 A 54 0 0 GTP cyclohydrolase 1 deficiency (GCH1D) GCH1_HUMAN 201 G E 1fb1 B 147 1.4 1.4 Dystonia type 5 (DYT5) GCH1_HUMAN 203 G R 1fb1 A 149 0 0 Dystonia type 5 (DYT5) GCH1_HUMAN 83 G A 1fb1 B 29 86.5 64.3 Dystonia type 5 (DYT5) GCH1_HUMAN 90 G V 1fb1 C 36 52.9 7.6 Dystonia type 5 (DYT5) GCH1_HUMAN 144 H P 1fb1 C 90 41.8 12.5 Dystonia type 5 (DYT5) GCH1_HUMAN 153 H P 1fb1 D 99 2.4 2.4 Dystonia type 5 (DYT5) GCH1_HUMAN 135 I K 1fb1 A 81 10.4 0 Dystonia type 5 (DYT5) GCH1_HUMAN 224 K R 1fb1 E 170 48.3 25.1 Dystonia type 5 (DYT5) GCH1_HUMAN 163 L R 1fb1 D 109 1 1 Dystonia type 5 (DYT5) GCH1_HUMAN 71 L Q 1fb1 A 17 26.2 0 Dystonia type 5 (DYT5) GCH1_HUMAN 79 L P 1fb1 B 25 10.2 0 Dystonia type 5 (DYT5) GCH1_HUMAN 102 M K 1fb1 A 48 21.9 10.1 Dystonia type 5 (DYT5) GCH1_HUMAN 102 M R 1fb1 A 48 21.9 10.1 Dystonia type 5 (DYT5) GCH1_HUMAN 211 M I 1fb1 C 157 25 2.2 GTP cyclohydrolase 1 deficiency (GCH1D) GCH1_HUMAN 211 M V 1fb1 C 157 25 2.2 Dystonia type 5 (DYT5) GCH1_HUMAN 213 M V 1fb1 B 159 44.1 1.7 Dystonia type 5 (DYT5) GCH1_HUMAN 221 M T 1fb1 B 167 64.4 36.3 GTP cyclohydrolase 1 deficiency (GCH1D) GCH1_HUMAN 199 P L 1fb1 B 145 12.6 12.6 Dystonia type 5 (DYT5) GCH1_HUMAN 180 Q R 1fb1 A 126 0.9 0.9 Dystonia type 5 (DYT5) GCH1_HUMAN 178 R S 1fb1 C 124 16.8 16.8 Dystonia type 5 (DYT5) GCH1_HUMAN 184 R H 1fb1 E 130 36.7 25.4 GTP cyclohydrolase 1 deficiency (GCH1D) GCH1_HUMAN 241 R W 1fb1 C 187 33.8 13.4 Dystonia type 5 (DYT5) GCH1_HUMAN 249 R S 1fb1 D 195 80 25.6 Dystonia type 5 (DYT5) GCH1_HUMAN 88 R P 1fb1 B 34 47 24.9 Dystonia type 5 (DYT5) GCH1_HUMAN 88 R W 1fb1 B 34 47 24.9 Dystonia type 5 (DYT5) GCH1_HUMAN 176 S T 1fb1 D 122 0.7 0.7 Dystonia type 5 (DYT5) GCH1_HUMAN 106 T I 1fb1 E 52 9 0 Dystonia type 5 (DYT5) GCH1_HUMAN 186 T K 1fb1 A 132 1.4 0 Dystonia type 5 (DYT5) GCH1_HUMAN 191 V I 1fb1 B 137 29.1 29.1 Dystonia type 5 (DYT5) GCR_HUMAN 641 D V 3k23 A 123 40.2 40.2 Glucocorticoid resistance GCR_HUMAN 679 G S 1m2z A 159 23.5 23.5 Glucocorticoid resistance GCR_HUMAN 559 I N 1m2z D 39 0 0 Glucocorticoid resistance GCR_HUMAN 747 I M 1m2z D 227 5.7 5.7 Glucocorticoid resistance GCR_HUMAN 753 L F 3cld A 235 2.2 2.2 Two glucocorticoid resistant leukemia cell lines lacking the normal allele GCR_HUMAN 729 V I 3e7c A 209 0.1 0.1 Glucocorticoid resistance GCST_HUMAN 276 D H 1wsv B 248 0.2 0.2 Non-ketotic hyperglycinemia (NKH) GCST_HUMAN 211 E K 1wsv B 183 54.9 54.9 Non-ketotic hyperglycinemia (NKH) GCST_HUMAN 269 G D 1wsv B 241 13.4 13.4 Non-ketotic hyperglycinemia (NKH) GCST_HUMAN 47 G R 1wsr B 19 13.1 0.1 Non-ketotic hyperglycinemia (NKH) GCST_HUMAN 42 H R 1wsv B 14 0.9 0.9 Non-ketotic hyperglycinemia (NKH) GCST_HUMAN 145 N I 1wsr B 117 21.4 21.4 Non-ketotic hyperglycinemia (NKH) GCST_HUMAN 320 R H 1wsv A 292 4.4 4.4 Non-ketotic hyperglycinemia (NKH) GDF5_HUMAN 400 C Y 2bhk A 19 0 0 Acromesomelic chondrodysplasia Grebe type (AMDG) GDF5_HUMAN 491 E K 3evs B 107 63.9 52.5 Symphalangism proximal syndrome (SYM1) GDF5_HUMAN 440 H L 3evs B 56 59 32.5 Du Pan syndrome GDF5_HUMAN 441 L P 3evs B 57 1.7 1.7 Brachydactyly type A2 (BDA2) GDF5_HUMAN 436 P T 3evs B 52 56.6 5.6 Du Pan syndrome GDF5_HUMAN 438 R L 3evs B 54 51.3 4.7 Multiple synostoses syndrome 2 (SYNS2) GDF5_HUMAN 439 S T 3evs B 55 86.1 16.2 Du Pan syndrome GDF5_HUMAN 475 S N 1waq A 91 21.8 21.8 Multiple synostoses syndrome 2 (SYNS2) GDNF_HUMAN 150 D N 2v5e B 40 63.4 63.4 Hirschsprung disease (HSCR) GDNF_HUMAN 211 I M 2v5e B 101 73.2 33.1 Hirschsprung disease (HSCR) GDNF_HUMAN 154 T S 3fub B 77 41.9 31.2 Hirschsprung disease (HSCR) GELS_HUMAN 611 S N 1h1v G 173 29.8 29.8 A breast cancer sample GELS_HUMAN 214 D N 1kcq A 30 0.2 0.2 Amyloidosis type 5 (AMYL5) GELS_HUMAN 214 D Y 1kcq A 30 0.2 0.2 Amyloidosis type 5 (AMYL5) GELS_HUMAN 201 T I 3ffk A 152 26.1 26.1 A breast cancer sample GGA1_HUMAN 239 G S 1oxz A 99 58.6 58.6 A breast cancer sample GHR_HUMAN 56 C S 1hwg B 38 2 2 Laron dwarfism GHR_HUMAN 170 D H 1hwg C 152 27.3 0 Laron dwarfism GHR_HUMAN 242 E D 1hwg C 224 61.8 61.8 Short stature GHR_HUMAN 62 E K 1kf9 E 44 36.2 20.7 Short stature GHR_HUMAN 114 F S 1a22 B 96 0 0 Laron dwarfism GHR_HUMAN 171 I T 1axi B 153 0 0 Laron dwarfism GHR_HUMAN 149 P Q 1hwg B 131 0 0 Laron dwarfism GHR_HUMAN 172 Q P 1a22 B 154 26.2 3.6 Laron dwarfism GHR_HUMAN 179 R C 1hwg B 161 43 43 Laron dwarfism GHR_HUMAN 229 R G 1kf9 F 211 15.3 15.3 Laron dwarfism GHR_HUMAN 229 R H 1kf9 F 211 15.3 15.3 Short stature GHR_HUMAN 89 R K 1a22 B 71 36.5 4.8 Laron dwarfism GHR_HUMAN 244 S I 1kf9 F 226 7 7 Laron dwarfism GHR_HUMAN 58 S L 1a22 B 40 0 0 Laron dwarfism GHR_HUMAN 143 V A 1a22 B 125 0 0 Laron dwarfism GHR_HUMAN 173 V G 1a22 B 155 0 0 Laron dwarfism GHR_HUMAN 68 W R 1kf9 E 50 4.4 4.4 Laron dwarfism GHR_HUMAN 226 Y C 2aew A 180 3.1 3.1 Laron dwarfism GHR_HUMAN 162 V D 1hwg C 144 21.7 18.5 Laron dwarfism GHR_HUMAN 162 V I 1hwg C 144 21.7 18.5 Short stature GIMA1_HUMAN 166 V E 3v70 A 160 20.1 20.1 A breast cancer sample GLCM_HUMAN 129 A T 1ogs A 90 0 0 Gaucher disease (GD) GLCM_HUMAN 175 A E 1ogs B 136 0 0 Gaucher disease (GD) GLCM_HUMAN 215 A D 1ogs A 176 0 0 Gaucher disease (GD) GLCM_HUMAN 229 A E 2f61 A 190 32.6 3.4 Gaucher disease (GD) GLCM_HUMAN 229 A T 2f61 A 190 32.6 3.4 Gaucher disease (GD) GLCM_HUMAN 348 A V 1ogs A 309 0 0 Gaucher disease (GD) GLCM_HUMAN 357 A D 2v3d A 320 0.7 0.7 Gaucher disease (GD) GLCM_HUMAN 380 A T 2j25 A 341 0 0 Gaucher disease (GD) GLCM_HUMAN 485 A P 2xwe B 448 14.7 14.7 Gaucher disease (GD) GLCM_HUMAN 495 A P 1ogs B 456 0.1 0.1 Gaucher disease (GD) GLCM_HUMAN 381 C G 2j25 A 342 1.1 1.1 Gaucher disease (GD) GLCM_HUMAN 55 C S 1ogs A 16 0 0 Gaucher disease (GD) GLCM_HUMAN 166 D V 1y7v B 127 2.5 2.5 Gaucher disease (GD) GLCM_HUMAN 179 D H 2f61 B 140 62.5 62.5 Gaucher disease (GD) GLCM_HUMAN 354 D H 1ogs B 315 12.9 12.9 Gaucher disease (GD) GLCM_HUMAN 419 D A 1y7v A 380 0.5 0.5 Gaucher disease (GD) GLCM_HUMAN 419 D H 1y7v A 380 0.5 0.5 Gaucher disease (GD) GLCM_HUMAN 419 D N 1y7v A 380 0.5 0.5 Gaucher disease (GD) GLCM_HUMAN 438 D N 2v3d B 401 1 1 Gaucher disease (GD) GLCM_HUMAN 438 D Y 2v3d B 401 1 1 Gaucher disease (GD) GLCM_HUMAN 448 D H 3gxm B 409 27.2 11.3 Gaucher disease (GD) GLCM_HUMAN 448 D V 3gxm B 409 27.2 11.3 Gaucher disease (GD) GLCM_HUMAN 513 D Y 1ogs B 474 0 0 Gaucher disease (GD) GLCM_HUMAN 63 D N 3gxd A 24 9.5 9.5 Gaucher disease (GD) GLCM_HUMAN 365 E K 2nsx B 326 25 20.1 Gaucher disease (GD) GLCM_HUMAN 388 E K 3gxm D 349 13.7 8.1 Gaucher disease (GD) GLCM_HUMAN 80 E K 3gxm C 41 6 6 Gaucher disease (GD) GLCM_HUMAN 252 F I 1y7v A 213 0 0 Gaucher disease (GD) GLCM_HUMAN 255 F Y 1y7v A 216 0 0 Gaucher disease (GD) GLCM_HUMAN 290 F L 2j25 A 251 0.1 0.1 Gaucher disease (GD) GLCM_HUMAN 298 F L 2j25 A 259 0 0 Gaucher disease (GD) GLCM_HUMAN 436 F S 3keh A 397 21.8 9.2 Gaucher disease (GD) GLCM_HUMAN 450 F I 1ogs A 411 0 0 Gaucher disease (GD) GLCM_HUMAN 456 F V 3ke0 A 417 0.8 0.8 Gaucher disease (GD) GLCM_HUMAN 76 F V 2v3f A 39 0.6 0.6 Gaucher disease (GD) GLCM_HUMAN 152 G E 3ke0 A 113 2.8 2.8 Gaucher disease (GD) GLCM_HUMAN 228 G V 2f61 A 189 57.2 30.5 Gaucher disease (GD) GLCM_HUMAN 232 G E 3gxm A 193 11 0.7 Gaucher disease (GD) GLCM_HUMAN 234 G E 3gxm C 195 2 2 Gaucher disease (GD) GLCM_HUMAN 234 G W 3gxm C 195 2 2 Gaucher disease (GD) GLCM_HUMAN 241 G E 3keh B 202 30.6 30.6 Gaucher disease (GD) GLCM_HUMAN 241 G R 3keh B 202 30.6 30.6 Gaucher disease (GD) GLCM_HUMAN 304 G D 2nsx C 265 1.7 1.7 Gaucher disease (GD) GLCM_HUMAN 364 G R 3gxm B 325 3.3 3.3 Gaucher disease (GD) GLCM_HUMAN 416 G S 2j25 A 377 0 0 Gaucher disease (GD) GLCM_HUMAN 428 G E 1ogs A 389 0 0 Gaucher disease (GD) GLCM_HUMAN 429 G R 1ogs B 390 0 0 Gaucher disease (GD) GLCM_HUMAN 460 G D 1ogs A 421 0 0 Gaucher disease (GD) GLCM_HUMAN 517 G S 2v3f A 480 7.4 7.4 Gaucher disease (GD) GLCM_HUMAN 85 G E 2nt0 A 46 27.8 27.8 Gaucher disease (GD) GLCM_HUMAN 201 H P 2v3f B 164 25.6 25.6 Gaucher disease (GD) GLCM_HUMAN 294 H Q 2f61 B 255 14 14 Gaucher disease (GD) GLCM_HUMAN 490 H R 1y7v B 451 9 9 Gaucher disease (GD) GLCM_HUMAN 158 I S 1ogs A 119 0 0 Gaucher disease (GD) GLCM_HUMAN 158 I T 1ogs A 119 0 0 Gaucher disease (GD) GLCM_HUMAN 200 I N 1ogs A 161 0 0 Gaucher disease (GD) GLCM_HUMAN 200 I S 1ogs A 161 0 0 Gaucher disease (GD) GLCM_HUMAN 441 I F 1ogs A 402 0 0 Gaucher disease (GD) GLCM_HUMAN 441 I T 1ogs A 402 0 0 Gaucher disease (GD) GLCM_HUMAN 118 K N 2xwd A 81 14.3 14.3 Gaucher disease (GD) GLCM_HUMAN 196 K Q 2nt0 A 157 0 0 Gaucher disease (GD) GLCM_HUMAN 237 K E 1ogs B 198 30.6 30.6 Gaucher disease (GD) GLCM_HUMAN 342 K I 2v3d B 305 51.4 51.4 Gaucher disease (GD) GLCM_HUMAN 452 K Q 2f61 A 413 0.7 0.7 Gaucher disease (GD) GLCM_HUMAN 464 K E 3gxd A 425 5 5 Gaucher disease (GD) GLCM_HUMAN 213 L F 2nt1 C 174 1.1 1.1 Gaucher disease (GD) GLCM_HUMAN 224 L F 1ogs A 185 0 0 Gaucher disease (GD) GLCM_HUMAN 303 L I 1ogs A 264 0 0 Gaucher disease (GD) GLCM_HUMAN 363 L P 1ogs B 324 0 0 Gaucher disease (GD) GLCM_HUMAN 410 L V 2j25 A 371 0 0 Gaucher disease (GD) GLCM_HUMAN 483 L P 3gxm C 444 8.2 8.2 Gaucher disease (GD) GLCM_HUMAN 483 L R 3gxm C 444 8.2 8.2 Gaucher disease (GD) GLCM_HUMAN 500 L P 1y7v B 461 0 0 Gaucher disease (GD) GLCM_HUMAN 162 M V 1y7v A 123 0.2 0.2 Gaucher disease (GD) GLCM_HUMAN 400 M I 3keh A 361 6.1 6.1 Gaucher disease (GD) GLCM_HUMAN 455 M V 3gxd A 416 0.3 0.3 Gaucher disease (GD) GLCM_HUMAN 156 N D 3gxm B 117 2.7 2.7 Gaucher disease (GD) GLCM_HUMAN 227 N K 3keh A 188 39.4 26.5 Gaucher disease (GD) GLCM_HUMAN 227 N S 3keh A 188 39.4 26.5 Gaucher disease (GD) GLCM_HUMAN 409 N S 3keh B 370 0.2 0.2 Gaucher disease (GD) GLCM_HUMAN 421 N K 2j25 A 382 0.2 0.2 Gaucher disease (GD) GLCM_HUMAN 431 N I 3gxm C 392 13.3 2.7 Gaucher disease (GD) GLCM_HUMAN 435 N T 1y7v B 396 38.6 16.7 Gaucher disease (GD) GLCM_HUMAN 501 N K 1ogs A 462 0 0 Gaucher disease (GD) GLCM_HUMAN 161 P L 3gxm B 122 0.7 0.7 Gaucher disease (GD) GLCM_HUMAN 161 P S 3gxm B 122 0.7 0.7 Gaucher disease (GD) GLCM_HUMAN 198 P L 2j25 A 159 28.6 28.6 Gaucher disease (GD) GLCM_HUMAN 198 P T 2j25 A 159 28.6 28.6 Gaucher disease (GD) GLCM_HUMAN 217 P S 1ogs A 178 0 0 Gaucher disease (GD) GLCM_HUMAN 221 P L 1ogs A 182 0 0 Gaucher disease (GD) GLCM_HUMAN 221 P T 1ogs A 182 0 0 Gaucher disease (GD) GLCM_HUMAN 305 P R 1ogs B 266 25.3 25.3 Gaucher disease (GD) GLCM_HUMAN 328 P L 1ogs A 289 18.4 18.4 Gaucher disease (GD) GLCM_HUMAN 426 P L 1ogs A 387 31.4 31.4 Gaucher disease (GD) GLCM_HUMAN 430 P L 3gxm A 391 26.1 0.8 Gaucher disease (GD) GLCM_HUMAN 440 P L 2j25 A 401 0 0 Gaucher disease (GD) GLCM_HUMAN 454 P R 3gxd A 415 0 0 Gaucher disease (GD) GLCM_HUMAN 159 R Q 1ogs A 120 0 0 Gaucher disease (GD) GLCM_HUMAN 159 R W 1ogs A 120 0 0 Gaucher disease (GD) GLCM_HUMAN 170 R C 3keh A 131 45.1 9.1 Gaucher disease (GD) GLCM_HUMAN 170 R L 3keh A 131 45.1 9.1 Gaucher disease (GD) GLCM_HUMAN 209 R C 2j25 A 170 15 15 Gaucher disease (GD) GLCM_HUMAN 209 R P 2j25 A 170 15 15 Gaucher disease (GD) GLCM_HUMAN 296 R Q 2wkl A 257 22 22 Gaucher disease (GD) GLCM_HUMAN 324 R C 2nsx B 285 4.9 4.9 Gaucher disease (GD) GLCM_HUMAN 324 R H 2nsx B 285 4.9 4.9 Gaucher disease (GD) GLCM_HUMAN 392 R G 3gxm B 353 25.9 17.5 Gaucher disease (GD) GLCM_HUMAN 392 R W 3gxm B 353 25.9 17.5 Gaucher disease (GD) GLCM_HUMAN 398 R Q 3gxm D 359 0.5 0.5 Gaucher disease (GD) GLCM_HUMAN 502 R C 2xwd B 465 23.7 23.7 Gaucher disease (GD) GLCM_HUMAN 502 R P 2xwd B 465 23.7 23.7 Gaucher disease (GD) GLCM_HUMAN 535 R C 2v3d A 498 13.9 13.9 Gaucher disease (GD) GLCM_HUMAN 535 R H 2v3d A 498 13.9 13.9 Gaucher disease (GD) GLCM_HUMAN 87 R Q 3gxm C 48 7.4 7.4 Gaucher disease (GD) GLCM_HUMAN 87 R W 3gxm C 48 7.4 7.4 Gaucher disease (GD) GLCM_HUMAN 146 S L 3gxm C 107 3.4 3.4 Gaucher disease (GD) GLCM_HUMAN 235 S P 3keh B 196 18.2 18.2 Gaucher disease (GD) GLCM_HUMAN 276 S P 2v3f B 239 30.7 3.8 Gaucher disease (GD) GLCM_HUMAN 310 S N 2nt1 D 271 13.8 13.8 Gaucher disease (GD) GLCM_HUMAN 403 S T 1ogs A 364 0 0 Gaucher disease (GD) GLCM_HUMAN 405 S G 2nsx C 366 3.4 3.4 Gaucher disease (GD) GLCM_HUMAN 405 S N 2nsx C 366 3.4 3.4 Gaucher disease (GD) GLCM_HUMAN 173 T I 2j25 A 134 4.3 4.3 Gaucher disease (GD) GLCM_HUMAN 173 T P 2j25 A 134 4.3 4.3 Gaucher disease (GD) GLCM_HUMAN 270 T R 1ogs A 231 0 0 Gaucher disease (GD) GLCM_HUMAN 362 T I 3ke0 A 323 2.4 1.2 Gaucher disease (GD) GLCM_HUMAN 408 T M 2f61 B 369 19.2 19.2 Gaucher disease (GD) GLCM_HUMAN 530 T I 1ogs A 491 0 0 Gaucher disease (GD) GLCM_HUMAN 82 T I 2v3f A 45 5.6 5.6 Gaucher disease (GD) GLCM_HUMAN 230 V E 3keh A 191 18.4 5.4 Gaucher disease (GD) GLCM_HUMAN 230 V G 3keh A 191 18.4 5.4 Gaucher disease (GD) GLCM_HUMAN 391 V L 3gxd A 352 2.6 2.6 Gaucher disease (GD) GLCM_HUMAN 414 V L 2j25 A 375 0 0 Gaucher disease (GD) GLCM_HUMAN 433 V L 3ke0 B 394 30.3 21.2 Gaucher disease (GD) GLCM_HUMAN 437 V L 2f61 A 398 0 0 Gaucher disease (GD) GLCM_HUMAN 54 V L 1ogs A 15 0 0 Gaucher disease (GD) GLCM_HUMAN 223 W R 2f61 B 184 9.4 9.1 Gaucher disease (GD) GLCM_HUMAN 351 W C 2nt1 A 312 1 1 Gaucher disease (GD) GLCM_HUMAN 417 W G 2j25 A 378 0 0 Gaucher disease (GD) GLCM_HUMAN 432 W R 2nt1 A 393 38 4.9 Gaucher disease (GD) GLCM_HUMAN 244 Y C 3gxd B 205 20 20 Gaucher disease (GD) GLCM_HUMAN 251 Y H 1y7v A 212 0 0 Gaucher disease (GD) GLCM_HUMAN 343 Y C 2xwe A 306 22.8 22.8 Gaucher disease (GD) GLCM_HUMAN 352 Y H 2nsx A 313 18.5 12.5 Gaucher disease (GD) GLCM_HUMAN 402 Y C 2v3d A 365 0 0 Gaucher disease (GD) GLCM_HUMAN 451 Y H 2v3d A 414 2.4 2.4 Gaucher disease (GD) GLCM_HUMAN 457 Y C 3gxd A 418 0.5 0.5 Gaucher disease (GD) GLCNE_HUMAN 460 A V 3eo3 C 73 1.9 1.9 Inclusion body myopathy type 2 (IBM2) GLCNE_HUMAN 524 A V 3eo3 C 137 0 0 Inclusion body myopathy type 2 (IBM2) GLCNE_HUMAN 600 A T 3eo3 C 213 0 0 Inclusion body myopathy type 2 (IBM2) GLCNE_HUMAN 630 A T 3eo3 C 243 0 0 Nonaka myopathy (NM) GLCNE_HUMAN 631 A T 3eo3 C 244 10.3 10.3 Inclusion body myopathy type 2 (IBM2) GLCNE_HUMAN 631 A V 3eo3 C 244 10.3 10.3 Inclusion body myopathy type 2 (IBM2) GLCNE_HUMAN 528 F C 3eo3 C 141 14.5 14.5 Inclusion body myopathy type 2 (IBM2) GLCNE_HUMAN 576 G E 3eo3 C 189 26.8 26.8 Inclusion body myopathy type 2 (IBM2) GLCNE_HUMAN 472 I T 3eo3 C 85 0 0 Nonaka myopathy (NM) GLCNE_HUMAN 557 I T 3eo3 C 170 32.9 0.9 Inclusion body myopathy type 2 (IBM2) GLCNE_HUMAN 587 I T 3eo3 C 200 0.1 0.1 Inclusion body myopathy type 2 (IBM2) GLCNE_HUMAN 712 M T 3eo3 C 325 18 18 Inclusion body myopathy type 2 (IBM2) GLCNE_HUMAN 519 N S 3eo3 C 132 3.9 3.9 Inclusion body myopathy type 2 (IBM2) GLCNE_HUMAN 572 V L 3eo3 C 185 21.9 0 Inclusion body myopathy type 2 (IBM2) GLCNE_HUMAN 696 V M 3eo3 C 309 2.1 2.1 Inclusion body myopathy type 2 (IBM2) GLCNE_HUMAN 675 Y H 3eo3 C 288 0.1 0.1 Inclusion body myopathy type 2 (IBM2) GLRA1_HUMAN 304 K E 1vry A 28 62.6 62.6 Startle disease (STHE) GLRA1_HUMAN 278 P T 1mot A 2 57.2 57.2 Startle disease (STHE) GLRA1_HUMAN 294 Q H 1vry A 18 72.2 72.2 Startle disease (STHE) GLRA1_HUMAN 280 R H 1vry A 4 75.1 75.1 Startle disease (STHE) GLRA1_HUMAN 299 R L 1mot A 23 44.2 44.2 Startle disease (STHE) GLRA1_HUMAN 299 R Q 1mot A 23 44.2 44.2 Startle disease (STHE) GNMT_HUMAN 177 H N 1r74 A 176 0.5 0.5 GNMT deficiency (also known as hypermethioninemia) GNMT_HUMAN 50 L P 1r74 B 49 8 8 GNMT deficiency (also known as hypermethioninemia) GNMT_HUMAN 141 N S 2azt A 141 5.3 5.3 GNMT deficiency (also known as hypermethioninemia) GP1BA_HUMAN 172 A V 1gwb A 157 0 0 Benign mediterranean macrothrombocytopenia GP1BA_HUMAN 225 C S 1gwb B 210 15.4 0 Bernard-Soulier syndrome (BSS) GP1BA_HUMAN 81 C R 1gwb A 66 0 0 Bernard-Soulier syndrome (BSS) GP1BA_HUMAN 145 L P 3p72 A 129 0.2 0.2 Bernard-Soulier syndrome (BSS) GP1BA_HUMAN 73 L F 1gwb B 58 0.5 0.5 Bernard-Soulier syndrome (BSS) GPD1L_HUMAN 280 A V 2pla B 280 19.7 19.7 Brugada syndrome type 2 (BRS2) GPD1L_HUMAN 83 E K 2pla B 83 53.7 53.7 Sudden infant death syndrome (SIDS) GPD1L_HUMAN 124 I V 2pla A 124 0.2 0.2 Sudden infant death syndrome (SIDS) GPD1L_HUMAN 273 R C 2pla B 273 13.7 13.7 Sudden infant death syndrome (SIDS) GPX4_HUMAN 120 A T 2obi A 106 2.1 2.1 Infertility GRK6_HUMAN 275 I M 2acx A 275 0 0 A breast infiltrating ductal carcinoma sample GRK6_HUMAN 31 R Q 3nyn A 31 52.9 51.9 A gastric adenocarcinoma sample GSHB_HUMAN 26 A D 2hgs A 26 0.3 0.3 Glutathione synthetase deficiency (GSS deficiency) GSHB_HUMAN 219 D A 2hgs A 219 0.8 0.8 Glutathione synthetase deficiency (GSS deficiency) GSHB_HUMAN 219 D G 2hgs A 219 0.8 0.8 Glutathione synthetase deficiency (GSS deficiency) GSHB_HUMAN 469 D E 2hgs A 469 3.9 3.9 Glutathione synthetase deficiency (GSS deficiency) GSHB_HUMAN 464 G V 2hgs A 464 51.6 51.6 Glutathione synthetase deficiency (GSS deficiency) GSHB_HUMAN 188 L P 2hgs A 188 1.3 1.3 Glutathione synthetase deficiency (GSS deficiency) GSHB_HUMAN 254 L R 2hgs A 254 0 0 Glutathione synthetase deficiency (GSS deficiency) GSHB_HUMAN 286 L Q 2hgs A 286 0 0 Glutathione synthetase deficiency (GSS deficiency) GSHB_HUMAN 267 R W 2hgs A 267 4.7 4.7 Glutathione synthetase deficiency (GSS deficiency) GSHB_HUMAN 283 R C 2hgs A 283 0 0 Glutathione synthetase deficiency (GSS deficiency) GSHB_HUMAN 330 R C 2hgs A 330 42.1 42.1 Glutathione synthetase deficiency (GSS deficiency) GSHB_HUMAN 270 Y C 2hgs A 270 22.7 22.7 Glutathione synthetase deficiency (GSS deficiency) GSHB_HUMAN 270 Y H 2hgs A 270 22.7 22.7 Glutathione synthetase deficiency (GSS deficiency) H4_HUMAN 64 E Q 3azh F 67 34.9 20.9 A breast cancer sample HAT1_HUMAN 317 A P 2p0w A 300 0 0 A colorectal cancer sample HCD2_HUMAN 122 L V 1u7t A 122 20.8 0 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency (MHBD deficiency) HCD2_HUMAN 247 N S 1u7t D 247 44.5 0 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency (MHBD deficiency) HCD2_HUMAN 130 R C 1u7t A 130 41.6 2.5 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency (MHBD deficiency) HCDH_HUMAN 40 A T 1f12 A 28 8.8 8.8 3-alpha-hydroxyacyl-CoA dehydrogenase deficiency (HADH deficiency) HCDH_HUMAN 57 D E 1f17 B 45 14.5 14.5 3-alpha-hydroxyacyl-CoA dehydrogenase deficiency (HADH deficiency) HCDH_HUMAN 258 P L 1lsj B 246 0.1 0.1 Familial hyperinsulinemic hypoglycemia 4 (HHF4) HCK_HUMAN 399 D G 2hck B 321 22.4 22.4 An ovarian mucinous carcinoma sample HDAC4_HUMAN 727 P R 2vqj A 83 25.9 25.9 A breast cancer sample HEM2_HUMAN 274 A T 1e51 A 274 0 0 Acute hepatic porphyria (AHP) HEM2_HUMAN 133 G R 1e51 A 133 0.9 0.9 Acute hepatic porphyria (AHP) HEM2_HUMAN 240 R W 1e51 A 240 15.6 2.2 Acute hepatic porphyria (AHP) HEM2_HUMAN 153 V M 1e51 A 153 3.1 3.1 Acute hepatic porphyria (AHP) HEM2_HUMAN 275 V M 1e51 A 275 0 0 Acute hepatic porphyria (AHP) HEM3_HUMAN 122 A G 3ecr A 125 0 0 Acute intermittent porphyria (AIP) HEM3_HUMAN 219 A D 3eq1 A 219 0.7 0.7 Acute intermittent porphyria (AIP) HEM3_HUMAN 252 A T 3eq1 A 252 0.8 0.8 Acute intermittent porphyria (AIP) HEM3_HUMAN 252 A V 3eq1 A 252 0.8 0.8 Acute intermittent porphyria (AIP) HEM3_HUMAN 270 A D 3ecr A 273 26.8 26.8 Acute intermittent porphyria (AIP) HEM3_HUMAN 270 A G 3ecr A 273 26.8 26.8 Acute intermittent porphyria (AIP) HEM3_HUMAN 31 A P 3eq1 A 31 5.4 5.4 Acute intermittent porphyria (AIP) HEM3_HUMAN 31 A T 3eq1 A 31 5.4 5.4 Acute intermittent porphyria (AIP) HEM3_HUMAN 55 A S 3ecr A 58 37.3 37.3 Acute intermittent porphyria (AIP) HEM3_HUMAN 247 C F 3ecr A 250 0 0 Acute intermittent porphyria (AIP) HEM3_HUMAN 247 C R 3ecr A 250 0 0 Acute intermittent porphyria (AIP) HEM3_HUMAN 261 C Y 3eq1 A 261 77 77 Acute intermittent porphyria (AIP) HEM3_HUMAN 178 D N 3eq1 A 178 41.8 41.8 Acute intermittent porphyria (AIP) HEM3_HUMAN 99 D G 3ecr A 102 52.4 52.4 Acute intermittent porphyria (AIP) HEM3_HUMAN 99 D H 3ecr A 102 52.4 52.4 Acute intermittent porphyria (AIP) HEM3_HUMAN 99 D N 3ecr A 102 52.4 52.4 Acute intermittent porphyria (AIP) HEM3_HUMAN 209 E K 3eq1 A 209 77.3 77.3 Acute intermittent porphyria (AIP) HEM3_HUMAN 223 E K 3ecr A 226 0 0 Acute intermittent porphyria (AIP) HEM3_HUMAN 250 E A 3ecr A 253 0 0 Acute intermittent porphyria (AIP) HEM3_HUMAN 250 E K 3ecr A 253 0 0 Acute intermittent porphyria (AIP) HEM3_HUMAN 250 E Q 3ecr A 253 0 0 Acute intermittent porphyria (AIP) HEM3_HUMAN 250 E V 3ecr A 253 0 0 Acute intermittent porphyria (AIP) HEM3_HUMAN 80 E G 3ecr A 83 36.7 36.7 Acute intermittent porphyria (AIP) HEM3_HUMAN 86 E V 3eq1 A 86 64.1 64.1 Acute intermittent porphyria (AIP) HEM3_HUMAN 111 G R 3ecr A 114 1.1 1.1 Acute intermittent porphyria (AIP) HEM3_HUMAN 216 G D 3ecr A 219 0.5 0.5 Acute intermittent porphyria (AIP) HEM3_HUMAN 236 G S 3ecr A 239 4.6 4.6 Acute intermittent porphyria (AIP) HEM3_HUMAN 24 G S 3eq1 A 24 0.2 0.2 Acute intermittent porphyria (AIP) HEM3_HUMAN 274 G R 3ecr A 277 32.9 32.9 Acute intermittent porphyria (AIP) HEM3_HUMAN 280 G R 3ecr A 283 0 0 Acute intermittent porphyria (AIP) HEM3_HUMAN 335 G D 3ecr A 338 0 0 Acute intermittent porphyria (AIP) HEM3_HUMAN 335 G S 3ecr A 338 0 0 Acute intermittent porphyria (AIP) HEM3_HUMAN 256 H N 3eq1 A 256 38.3 38.3 Acute intermittent porphyria (AIP) HEM3_HUMAN 256 H Y 3eq1 A 256 38.3 38.3 Acute intermittent porphyria (AIP) HEM3_HUMAN 113 I T 3ecr A 116 0 0 Acute intermittent porphyria (AIP) HEM3_HUMAN 98 K R 3eq1 A 98 28.6 28.6 Acute intermittent porphyria (AIP) HEM3_HUMAN 177 L R 3ecr A 180 0 0 Acute intermittent porphyria (AIP) HEM3_HUMAN 238 L R 3eq1 A 238 6.1 6.1 Acute intermittent porphyria (AIP) HEM3_HUMAN 244 L P 3ecr A 247 0 0 Acute intermittent porphyria (AIP) HEM3_HUMAN 245 L R 3ecr A 248 0 0 Acute intermittent porphyria (AIP) HEM3_HUMAN 254 L P 3eq1 A 254 5.5 5.5 Acute intermittent porphyria (AIP) HEM3_HUMAN 278 L P 3ecr A 281 0 0 Acute intermittent porphyria (AIP) HEM3_HUMAN 343 L P 3ecr A 346 30 30 Acute intermittent porphyria (AIP) HEM3_HUMAN 42 L S 3ecr A 45 1.1 1.1 Acute intermittent porphyria (AIP) HEM3_HUMAN 81 L P 3ecr A 84 4.9 4.9 Acute intermittent porphyria (AIP) HEM3_HUMAN 85 L R 3ecr A 88 0 0 Acute intermittent porphyria (AIP) HEM3_HUMAN 92 L P 3ecr A 95 0.5 0.5 Acute intermittent porphyria (AIP) HEM3_HUMAN 18 M I 3ecr A 21 57.6 57.6 Acute intermittent porphyria (AIP) HEM3_HUMAN 212 M V 3ecr A 215 4.5 4.5 Acute intermittent porphyria (AIP) HEM3_HUMAN 119 P L 3eq1 A 119 11.8 11.8 Acute intermittent porphyria (AIP) HEM3_HUMAN 217 Q H 3eq1 A 217 0.7 0.7 Acute intermittent porphyria (AIP) HEM3_HUMAN 217 Q L 3eq1 A 217 0.7 0.7 Acute intermittent porphyria (AIP) HEM3_HUMAN 34 Q K 3ecr A 37 4.6 4.6 Acute intermittent porphyria (AIP) HEM3_HUMAN 34 Q P 3ecr A 37 4.6 4.6 Acute intermittent porphyria (AIP) HEM3_HUMAN 34 Q R 3ecr A 37 4.6 4.6 Acute intermittent porphyria (AIP) HEM3_HUMAN 116 R Q 3ecr A 119 10 10 Acute intermittent porphyria (AIP) HEM3_HUMAN 116 R W 3ecr A 119 10 10 Acute intermittent porphyria (AIP) HEM3_HUMAN 149 R L 3ecr A 152 5.7 5.7 Acute intermittent porphyria (AIP) HEM3_HUMAN 149 R Q 3ecr A 152 5.7 5.7 Acute intermittent porphyria (AIP) HEM3_HUMAN 167 R Q 3eq1 A 167 74.6 74.6 Acute intermittent porphyria (AIP) HEM3_HUMAN 167 R W 3eq1 A 167 74.6 74.6 Acute intermittent porphyria (AIP) HEM3_HUMAN 173 R Q 3ecr A 176 16.8 16.8 Acute intermittent porphyria (AIP) HEM3_HUMAN 173 R W 3ecr A 176 16.8 16.8 Acute intermittent porphyria (AIP) HEM3_HUMAN 195 R C 3eq1 A 195 15.6 15.6 Acute intermittent porphyria (AIP) HEM3_HUMAN 201 R W 3eq1 A 201 20.8 20.8 Acute intermittent porphyria (AIP) HEM3_HUMAN 225 R G 3ecr A 228 14 14 Acute intermittent porphyria (AIP) HEM3_HUMAN 225 R Q 3ecr A 228 14 14 Acute intermittent porphyria (AIP) HEM3_HUMAN 22 R C 3ecr A 25 23.2 23.2 Acute intermittent porphyria (AIP) HEM3_HUMAN 26 R C 3eq1 A 26 35.8 35.8 Acute intermittent porphyria (AIP) HEM3_HUMAN 26 R H 3eq1 A 26 35.8 35.8 Acute intermittent porphyria (AIP) HEM3_HUMAN 28 S N 3eq1 A 28 29.9 29.9 Acute intermittent porphyria (AIP) HEM3_HUMAN 96 S F 3ecr A 99 22.2 22.2 Acute intermittent porphyria (AIP) HEM3_HUMAN 269 T I 3ecr A 272 2.2 2.2 Acute intermittent porphyria (AIP) HEM3_HUMAN 35 T M 3eq1 A 35 0.7 0.7 Acute intermittent porphyria (AIP) HEM3_HUMAN 78 T P 3ecr A 81 17.3 17.3 Acute intermittent porphyria (AIP) HEM3_HUMAN 124 V D 3eq1 A 124 0 0 Acute intermittent porphyria (AIP) HEM3_HUMAN 202 V L 3eq1 A 202 19.2 19.2 Acute intermittent porphyria (AIP) HEM3_HUMAN 222 V M 3ecr A 225 0 0 Acute intermittent porphyria (AIP) HEM3_HUMAN 267 V M 3ecr A 270 0 0 Acute intermittent porphyria (AIP) HEM3_HUMAN 90 V G 3ecr A 93 0 0 Acute intermittent porphyria (AIP) HEM3_HUMAN 93 V F 3eq1 A 93 0.3 0.3 Acute intermittent porphyria (AIP) HEM3_HUMAN 260 G D 3eq1 A 260 46.8 46.8 Acute intermittent porphyria (AIP) HEM4_HUMAN 104 A V 1jr2 A 125 5.9 5.9 Congenital erythropoietic porphyria (CEP) HEM4_HUMAN 66 A V 1jr2 A 87 0.6 0.6 Congenital erythropoietic porphyria (CEP) HEM4_HUMAN 69 A T 1jr2 A 90 0 0 Congenital erythropoietic porphyria (CEP) HEM4_HUMAN 73 C R 1jr2 A 94 0 0 Congenital erythropoietic porphyria (CEP) HEM4_HUMAN 188 G R 1jr2 A 209 38.5 38.5 Congenital erythropoietic porphyria (CEP) HEM4_HUMAN 188 G W 1jr2 A 209 38.5 38.5 Congenital erythropoietic porphyria (CEP) HEM4_HUMAN 225 G S 1jr2 A 246 12.1 12.1 Congenital erythropoietic porphyria (CEP) HEM4_HUMAN 129 I T 1jr2 A 150 3.1 3.1 Congenital erythropoietic porphyria (CEP) HEM4_HUMAN 219 I S 1jr2 A 240 4.6 4.6 Congenital erythropoietic porphyria (CEP) HEM4_HUMAN 4 L F 1jr2 A 25 0.1 0.1 Congenital erythropoietic porphyria (CEP) HEM4_HUMAN 53 P L 1jr2 A 74 0.3 0.3 Congenital erythropoietic porphyria (CEP) HEM4_HUMAN 212 S P 1jr2 A 233 3 3 Congenital erythropoietic porphyria (CEP) HEM4_HUMAN 47 S P 1jr2 A 68 2.4 2.4 Congenital erythropoietic porphyria (CEP) HEM4_HUMAN 228 T M 1jr2 A 249 3.6 3.6 Congenital erythropoietic porphyria (CEP) HEM4_HUMAN 62 T A 1jr2 A 83 16.2 16.2 Congenital erythropoietic porphyria (CEP) HEM4_HUMAN 3 V F 1jr2 A 24 0.5 0.5 Congenital erythropoietic porphyria (CEP) HEM4_HUMAN 82 V F 1jr2 A 103 34.7 34.7 Congenital erythropoietic porphyria (CEP) HEM4_HUMAN 99 V A 1jr2 A 120 8.9 8.9 Congenital erythropoietic porphyria (CEP) HEM4_HUMAN 19 Y C 1jr2 A 40 10 10 Congenital erythropoietic porphyria (CEP) HEM6_HUMAN 201 E K 2aex A 93 5.3 5.3 Hereditary coproporphyria (HCP) HEM6_HUMAN 189 G S 2aex A 81 0 0 Hereditary coproporphyria (HCP) HEM6_HUMAN 197 G W 2aex A 89 7.7 7.7 Hereditary coproporphyria (HCP) HEM6_HUMAN 279 G R 2aex A 171 0.4 0.4 Hereditary coproporphyria (HCP) HEM6_HUMAN 280 G R 2aex A 172 1.8 1.8 Hereditary coproporphyria (HCP) HEM6_HUMAN 295 H D 2aex A 187 34 34 Hereditary coproporphyria (HCP) HEM6_HUMAN 404 K E 2aex A 296 81.3 81.3 Hereditary coproporphyria (HCP) HEM6_HUMAN 214 L R 2aex A 106 10.4 10.4 Hereditary coproporphyria (HCP) HEM6_HUMAN 249 P R 2aex A 141 0.3 0.3 Hereditary coproporphyria (HCP) HEM6_HUMAN 249 P S 2aex A 141 0.3 0.3 Hereditary coproporphyria (HCP) HEM6_HUMAN 328 R C 2aex A 220 39.7 36.1 Hereditary coproporphyria (HCP) HEM6_HUMAN 331 R W 2aex A 223 16.7 16.7 Hereditary coproporphyria (HCP) HEM6_HUMAN 447 R C 2aex A 339 41.3 41.3 Hereditary coproporphyria (HCP) HEM6_HUMAN 208 S F 2aex A 100 6.3 6.3 Hereditary coproporphyria (HCP) HEM6_HUMAN 135 V A 2aex A 27 19.8 19.8 Hereditary coproporphyria (HCP) HEM6_HUMAN 427 W R 2aex A 319 58.6 6.2 Hereditary coproporphyria (HCP) HEMH_HUMAN 236 C Y 1hrk A 172 0 0 Erythropoietic protoporphyria (EPP) HEMH_HUMAN 406 C S 2qd3 A 342 20.8 7.8 Erythropoietic protoporphyria (EPP) HEMH_HUMAN 406 C Y 2qd3 A 342 20.8 7.8 Erythropoietic protoporphyria (EPP) HEMH_HUMAN 178 E K 3hcr B 114 13.9 13.9 Erythropoietic protoporphyria (EPP) HEMH_HUMAN 260 F L 1hrk A 196 0 0 Erythropoietic protoporphyria (EPP) HEMH_HUMAN 417 F S 2po5 B 353 12.6 12.6 Erythropoietic protoporphyria (EPP) HEMH_HUMAN 386 H P 2po7 A 322 16 16 Erythropoietic protoporphyria (EPP) HEMH_HUMAN 186 I T 1hrk A 122 0 0 Erythropoietic protoporphyria (EPP) HEMH_HUMAN 71 I K 1hrk A 7 0 0 Erythropoietic protoporphyria (EPP) HEMH_HUMAN 379 K N 2pnj B 315 28.9 28.9 Erythropoietic protoporphyria (EPP) HEMH_HUMAN 182 L R 2hre A 118 0.9 0.9 Erythropoietic protoporphyria (EPP) HEMH_HUMAN 267 M I 1hrk B 203 27.6 5.9 Erythropoietic protoporphyria (EPP) HEMH_HUMAN 288 M K 1hrk A 224 0 0 Erythropoietic protoporphyria (EPP) HEMH_HUMAN 192 P T 1hrk A 128 0 0 Erythropoietic protoporphyria (EPP) HEMH_HUMAN 334 P L 2qd1 A 270 0.7 0.7 Erythropoietic protoporphyria (EPP) HEMH_HUMAN 139 Q L 3hco A 75 1.5 1.5 Erythropoietic protoporphyria (EPP) HEMH_HUMAN 151 S P 2hre D 87 3 3 Erythropoietic protoporphyria (EPP) HEMH_HUMAN 264 S L 1hrk B 200 0.9 0.9 Erythropoietic protoporphyria (EPP) HEMH_HUMAN 283 T I 1hrk A 219 0 0 Erythropoietic protoporphyria (EPP) HEMH_HUMAN 362 V G 2qd1 A 298 11 11 Erythropoietic protoporphyria (EPP) HEMH_HUMAN 191 Y H 3hcp B 127 3.7 3.7 Erythropoietic protoporphyria (EPP) HEP2_HUMAN 447 E K 1jmo A 428 10.2 10.2 Heparin cofactor 2 deficiency (HCF2D) HEP2_HUMAN 462 P L 1jmo A 443 67 2.3 Heparin cofactor 2 deficiency (HCF2D) HEP2_HUMAN 208 R H 1jmo A 189 18.5 18.5 Heparin cofactor 2 deficiency (HCF2D) HEPC_HUMAN 70 C R 1m4f A 11 49.2 49.2 Hemochromatosis type 2B (HFE2B) HEPC_HUMAN 78 C Y 3h0t C 19 58.8 7.7 Hemochromatosis type 2B (HFE2B) HEPC_HUMAN 71 G D 1m4f A 12 30.5 30.5 Hemochromatosis type 2B (HFE2B) HESX1_HUMAN 160 R C 2k40 A 53 47.5 47.5 Septooptic dysplasia (SOD) HEXA_HUMAN 458 C Y 2gjx A 436 0 0 GM2-gangliosidosis type 1 (GM2G1) HEXA_HUMAN 258 D H 2gk1 G 236 0 0 GM2-gangliosidosis type 1 (GM2G1) HEXA_HUMAN 314 D V 2gk1 E 292 4.3 4.3 GM2-gangliosidosis type 1 (GM2G1) HEXA_HUMAN 482 E K 2gjx A 460 0 0 GM2-gangliosidosis type 1 (GM2G1) HEXA_HUMAN 211 F S 2gjx A 189 0 0 GM2-gangliosidosis type 1 (GM2G1) HEXA_HUMAN 250 G D 2gk1 E 228 1.3 1.3 GM2-gangliosidosis type 1 (GM2G1) HEXA_HUMAN 250 G S 2gk1 E 228 1.3 1.3 GM2-gangliosidosis type 1 (GM2G1) HEXA_HUMAN 269 G D 2gjx D 247 19.7 19.7 GM2-gangliosidosis type 1 (GM2G1) HEXA_HUMAN 269 G S 2gjx D 247 19.7 19.7 GM2-gangliosidosis type 1 (GM2G1) HEXA_HUMAN 454 G S 2gjx D 432 0.1 0.1 GM2-gangliosidosis type 1 (GM2G1) HEXA_HUMAN 455 G R 2gjx A 433 0 0 GM2-gangliosidosis type 1 (GM2G1) HEXA_HUMAN 204 H R 2gjx D 182 0.6 0.6 GM2-gangliosidosis type 1 (GM2G1) HEXA_HUMAN 335 I F 2gjx A 313 0 0 GM2-gangliosidosis type 1 (GM2G1) HEXA_HUMAN 197 K T 2gk1 G 175 0.1 0.1 GM2-gangliosidosis type 1 (GM2G1) HEXA_HUMAN 127 L F 2gjx A 105 0 0 GM2-gangliosidosis type 1 (GM2G1) HEXA_HUMAN 127 L R 2gjx A 105 0 0 GM2-gangliosidosis type 1 (GM2G1) HEXA_HUMAN 39 L R 2gjx D 17 3.7 0.3 GM2-gangliosidosis type 1 (GM2G1) HEXA_HUMAN 484 L Q 2gjx A 462 0.1 0.1 GM2-gangliosidosis type 1 (GM2G1) HEXA_HUMAN 301 M R 2gk1 E 279 0 0 GM2-gangliosidosis type 1 (GM2G1) HEXA_HUMAN 196 N S 2gk1 G 174 0.5 0.5 GM2-gangliosidosis type 1 (GM2G1) HEXA_HUMAN 295 N S 2gk1 G 273 76 76 GM2-gangliosidosis type 1 (GM2G1) HEXA_HUMAN 25 P S 2gk1 G 3 0.2 0.2 GM2-gangliosidosis type 1 (GM2G1) HEXA_HUMAN 166 R G 2gjx D 144 19.7 19.7 GM2-gangliosidosis type 1 (GM2G1) HEXA_HUMAN 170 R Q 2gk1 G 148 0 0 GM2-gangliosidosis type 1 (GM2G1) HEXA_HUMAN 170 R W 2gk1 G 148 0 0 GM2-gangliosidosis type 1 (GM2G1) HEXA_HUMAN 178 R C 2gjx A 156 14.9 9.5 GM2-gangliosidosis type 1 (GM2G1) HEXA_HUMAN 178 R H 2gjx A 156 14.9 9.5 GM2-gangliosidosis type 1 (GM2G1) HEXA_HUMAN 178 R L 2gjx A 156 14.9 9.5 GM2-gangliosidosis type 1 (GM2G1) HEXA_HUMAN 252 R H 2gjx D 230 3.4 3.4 GM2-gangliosidosis type 1 (GM2G1) HEXA_HUMAN 252 R L 2gjx D 230 3.4 3.4 GM2-gangliosidosis type 1 (GM2G1) HEXA_HUMAN 499 R C 2gjx D 477 6.1 6.1 GM2-gangliosidosis type 1 (GM2G1) HEXA_HUMAN 499 R H 2gjx D 477 6.1 6.1 GM2-gangliosidosis type 1 (GM2G1) HEXA_HUMAN 504 R C 2gk1 G 482 11.6 3.4 GM2-gangliosidosis type 1 (GM2G1) HEXA_HUMAN 504 R H 2gk1 G 482 11.6 3.4 GM2-gangliosidosis type 1 (GM2G1) HEXA_HUMAN 210 S F 2gjx D 188 0.3 0.3 GM2-gangliosidosis type 1 (GM2G1) HEXA_HUMAN 226 S F 2gk1 E 204 9.4 9.4 GM2-gangliosidosis type 1 (GM2G1) HEXA_HUMAN 279 S P 2gk1 E 257 75.5 75.5 GM2-gangliosidosis type 1 (GM2G1) HEXA_HUMAN 192 V L 2gjx D 170 3.1 3.1 GM2-gangliosidosis type 1 (GM2G1) HEXA_HUMAN 200 V M 2gjx A 178 0 0 GM2-gangliosidosis type 1 (GM2G1) HEXA_HUMAN 391 V M 2gjx A 369 0 0 GM2-gangliosidosis type 1 (GM2G1) HEXA_HUMAN 420 W C 2gjx A 398 0 0 GM2-gangliosidosis type 1 (GM2G1) HEXA_HUMAN 474 W C 2gk1 G 452 0.3 0.3 GM2-gangliosidosis type 1 (GM2G1) HEXA_HUMAN 485 W R 2gk1 G 463 0 0 GM2-gangliosidosis type 1 (GM2G1) HEXA_HUMAN 180 Y H 2gk1 E 158 14.7 13.8 GM2-gangliosidosis type 1 (GM2G1) HEXB_HUMAN 543 A T 1nou A 494 2.4 0 GM2-gangliosidosis type 2 (GM2G2) HEXB_HUMAN 309 C Y 1o7a A 268 2.9 2.9 GM2-gangliosidosis type 2 (GM2G2) HEXB_HUMAN 534 C Y 1o7a A 493 7.7 7.7 GM2-gangliosidosis type 2 (GM2G2) HEXB_HUMAN 417 P L 1o7a A 376 93.8 93.8 GM2-gangliosidosis type 2 (GM2G2) HEXB_HUMAN 504 P S 2gk1 F 455 0.2 0.2 GM2-gangliosidosis type 2 (GM2G2) HEXB_HUMAN 505 R Q 1nou A 456 4.4 4.4 GM2-gangliosidosis type 2 (GM2G2) HEXB_HUMAN 255 S R 1o7a B 214 0.5 0.5 GM2-gangliosidosis type 2 (GM2G2) HEXB_HUMAN 62 S L 1nou A 13 24.6 24.6 GM2-gangliosidosis type 2 (GM2G2) HEXB_HUMAN 456 Y S 2gk1 F 407 105.4 34.6 GM2-gangliosidosis type 2 (GM2G2) HFE_HUMAN 176 A V 1a6z A 154 1.1 1.1 Hereditary hemochromatosis (HH) HFE_HUMAN 282 C Y 1a6z A 260 0 0 Hereditary hemochromatosis (HH) HFE_HUMAN 43 G D 1de4 G 21 55.1 41.5 Hereditary hemochromatosis (HH) HFE_HUMAN 93 G R 1de4 G 71 45.8 17.2 Hereditary hemochromatosis (HH) HFE_HUMAN 63 H D 1de4 G 41 26.5 26.5 Hereditary hemochromatosis (HH) HFE_HUMAN 105 I T 1a6z A 83 0 0 Hereditary hemochromatosis (HH) HFE_HUMAN 127 Q H 1a6z A 105 38.6 38.6 Hereditary hemochromatosis (HH) HFE_HUMAN 283 Q P 1a6z A 261 14.4 14.4 Hereditary hemochromatosis (HH) HFE_HUMAN 224 R G 1de4 G 202 32.9 4.8 Hereditary hemochromatosis (HH) HFE_HUMAN 66 R C 1de4 G 44 25.8 25.8 Hereditary hemochromatosis (HH) HFE_HUMAN 65 S C 1a6z A 43 48.3 48.3 Hereditary hemochromatosis (HH) HFE_HUMAN 295 V A 1de4 G 273 16.3 16.3 Hereditary hemochromatosis (HH) HGD_HUMAN 122 A D 1ey2 A 148 8.7 0 Alkaptonuria (AKU) HGD_HUMAN 153 D G 1ey2 A 179 0.2 0.2 Alkaptonuria (AKU) HGD_HUMAN 291 D E 1ey2 A 317 63.4 2.1 Alkaptonuria (AKU) HGD_HUMAN 168 E K 1eyb A 194 2.7 0.2 Alkaptonuria (AKU) HGD_HUMAN 42 E A 1eyb A 68 20.8 0.5 Alkaptonuria (AKU) HGD_HUMAN 227 F S 1ey2 A 253 0 0 Alkaptonuria (AKU) HGD_HUMAN 161 G R 1ey2 A 187 8.5 8.5 Alkaptonuria (AKU) HGD_HUMAN 270 G R 1ey2 A 296 0 0 Alkaptonuria (AKU) HGD_HUMAN 371 H R 1ey2 A 397 18.6 12.4 Alkaptonuria (AKU) HGD_HUMAN 216 I T 1eyb A 242 30.9 0 Alkaptonuria (AKU) HGD_HUMAN 25 L P 1eyb A 51 16.2 8.6 Alkaptonuria (AKU) HGD_HUMAN 230 P S 1ey2 A 256 0 0 Alkaptonuria (AKU) HGD_HUMAN 230 P T 1ey2 A 256 0 0 Alkaptonuria (AKU) HGD_HUMAN 225 R H 1eyb A 251 79.5 12.8 Alkaptonuria (AKU) HGD_HUMAN 330 R S 1ey2 A 356 15.2 15.2 Alkaptonuria (AKU) HGD_HUMAN 189 S I 1ey2 A 215 5.9 5.9 Alkaptonuria (AKU) HGD_HUMAN 300 V G 1ey2 A 326 0.1 0.1 Alkaptonuria (AKU) HGD_HUMAN 60 W G 1eyb A 86 13.2 0.3 Alkaptonuria (AKU) HGD_HUMAN 97 W G 1ey2 A 123 0 0 Alkaptonuria (AKU) HGD_HUMAN 62 Y C 1ey2 A 88 0 0 Alkaptonuria (AKU) HIBCH_HUMAN 122 Y C 3bpt A 92 0 0 HIBCH deficiency HMCS2_HUMAN 174 F L 2wya C 126 8 0.5 HMG-CoA synthase deficiency HMCS2_HUMAN 212 G R 2wya B 164 0 0 HMG-CoA synthase deficiency HMCS2_HUMAN 500 R H 2wya C 452 64.2 39.7 HMG-CoA synthase deficiency HMCS2_HUMAN 54 V M 2wya C 6 1.9 1.9 HMG-CoA synthase deficiency HMCS2_HUMAN 167 Y C 2wya B 119 6.6 0.5 HMG-CoA synthase deficiency HMGB1_HUMAN 149 A E 2yrq A 156 55.2 55.2 Gastric-carcinoma cell line HMGB1_HUMAN 11 G R 2yrq A 18 30 30 Gastric-carcinoma cell line HMGCL_HUMAN 174 C Y 3mp4 A 147 2.5 2.5 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) HMGCL_HUMAN 204 D N 3mp4 B 177 0.4 0.4 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) HMGCL_HUMAN 42 D E 3mp3 B 15 6.5 6.5 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) HMGCL_HUMAN 42 D G 3mp3 B 15 6.5 6.5 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) HMGCL_HUMAN 42 D H 3mp3 B 15 6.5 6.5 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) HMGCL_HUMAN 279 E K 3mp3 A 252 0.3 0.3 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) HMGCL_HUMAN 37 E K 2cw6 A 10 0 0 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) HMGCL_HUMAN 192 F S 2cw6 C 165 0 0 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) HMGCL_HUMAN 203 G E 3mp4 A 176 0.1 0.1 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) HMGCL_HUMAN 233 H R 3mp5 F 206 1.9 1.9 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) HMGCL_HUMAN 200 I F 2cw6 A 173 0 0 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) HMGCL_HUMAN 48 K N 3mp4 B 21 77.1 77.1 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) HMGCL_HUMAN 263 L P 2cw6 A 236 0 0 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) HMGCL_HUMAN 41 R Q 3mp5 E 14 0.7 0.7 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) HMGCL_HUMAN 142 S F 2cw6 A 115 20.9 8.6 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) HMGCL_HUMAN 201 S Y 2cw6 A 174 0 0 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) HMGCL_HUMAN 75 S R 3mp3 B 48 1.2 1.2 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) HMGCL_HUMAN 70 V L 2cw6 E 43 4.8 4.8 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) HNF1A_HUMAN 161 A T 1ic8 A 77 29.9 29.9 Maturity onset diabetes of the young type 3 (MODY3) HNF1A_HUMAN 241 C G 1ic8 A 157 1.1 1.1 Insulin-dependent diabetes mellitus (IDDM) HNF1A_HUMAN 143 H Y 1ic8 B 59 23.9 0.2 Maturity onset diabetes of the young type 3 (MODY3) HNF1A_HUMAN 128 I N 1ic8 A 44 10.3 10.2 Maturity onset diabetes of the young type 3 (MODY3) HNF1A_HUMAN 117 K E 1ic8 B 33 35.5 35.5 Maturity onset diabetes of the young type 3 (MODY3) HNF1A_HUMAN 158 K N 1ic8 B 74 39.3 21.8 Maturity onset diabetes of the young type 3 (MODY3) HNF1A_HUMAN 205 K Q 1ic8 B 121 59.5 36.9 Maturity onset diabetes of the young type 3 (MODY3) HNF1A_HUMAN 107 L R 1ic8 A 23 10.4 10.4 Maturity onset diabetes of the young type 3 (MODY3) HNF1A_HUMAN 127 N Y 1ic8 B 43 14.2 14.2 A hepatocellular carcinoma sample HNF1A_HUMAN 129 P T 1ic8 B 45 24 9.4 Maturity onset diabetes of the young type 3 (MODY3) HNF1A_HUMAN 250 Q P 1ic8 A 166 62.2 62.2 A hepatocellular carcinoma sample HNF1A_HUMAN 131 R Q 1ic8 B 47 47.4 24.3 Maturity onset diabetes of the young type 3 (MODY3) HNF1A_HUMAN 131 R W 1ic8 B 47 47.4 24.3 Maturity onset diabetes of the young type 3 (MODY3) HNF1A_HUMAN 159 R Q 1ic8 B 75 7.1 7.1 Maturity onset diabetes of the young type 3 (MODY3) HNF1A_HUMAN 159 R W 1ic8 B 75 7.1 7.1 Maturity onset diabetes of the young type 3 (MODY3) HNF1A_HUMAN 203 R C 1ic8 B 119 92.3 30.4 Maturity onset diabetes of the young type 3 (MODY3) HNF1A_HUMAN 203 R H 1ic8 B 119 92.3 30.4 Maturity onset diabetes of the young type 3 (MODY3) HNF1A_HUMAN 229 R Q 1ic8 A 145 8.1 6.5 Maturity onset diabetes of the young type 3 (MODY3) HNF1A_HUMAN 263 R C 1ic8 A 179 25.1 17.6 Maturity onset diabetes of the young type 3 (MODY3) HNF1A_HUMAN 271 R W 1ic8 A 187 23.2 18.8 Maturity onset diabetes of the young type 3 (MODY3) HNF1A_HUMAN 272 R H 1ic8 A 188 32.4 15.3 Insulin-dependent diabetes mellitus (IDDM) HNF1A_HUMAN 142 S F 1ic8 B 58 49.3 1.2 Maturity onset diabetes of the young type 3 (MODY3) HNF1A_HUMAN 260 T M 1ic8 A 176 21.9 21.9 Maturity onset diabetes of the young type 3 (MODY3) HNF1A_HUMAN 133 V M 1ic8 A 49 0.1 0.1 Maturity onset diabetes of the young type 3 (MODY3) HNF1A_HUMAN 259 V D 1ic8 B 175 0.9 0.9 Maturity onset diabetes of the young type 3 (MODY3) HNF1A_HUMAN 165 W C 1ic8 B 81 8.2 8.2 A hepatocellular carcinoma sample HNF1A_HUMAN 122 Y C 1ic8 A 38 14.3 14.3 Maturity onset diabetes of the young type 3 (MODY3) HNF1A_HUMAN 31 G D 2gyp A 31 69 69 Maturity onset diabetes of the young type 3 (MODY3) HNF1A_HUMAN 12 L H 2gyp A 12 57.2 0.1 Maturity onset diabetes of the young type 3 (MODY3) HNF1B_HUMAN 241 A T 2h8r A 152 23.4 23.4 Renal cysts and diabetes syndrome (RCAD) HNF1B_HUMAN 260 E D 2h8r A 171 30.6 30.6 Renal cysts and diabetes syndrome (RCAD) HNF1B_HUMAN 285 G D 2h8r B 196 4 4 Renal cysts and diabetes syndrome (RCAD) HNF1B_HUMAN 235 R Q 2h8r B 146 78.4 18.3 Renal cysts and diabetes syndrome (RCAD) HNF1B_HUMAN 276 R G 2h8r A 187 8 8 Renal cysts and diabetes syndrome (RCAD) HNF1B_HUMAN 276 R Q 2h8r A 187 8 8 Renal cysts and diabetes syndrome (RCAD) HNF1B_HUMAN 295 R C 2da6 A 70 16.2 16.2 Renal cysts and diabetes syndrome (RCAD) HNF1B_HUMAN 295 R H 2da6 A 70 16.2 16.2 Renal cysts and diabetes syndrome (RCAD) HNF1B_HUMAN 295 R P 2da6 A 70 16.2 16.2 Renal cysts and diabetes syndrome (RCAD) HNF1B_HUMAN 153 H N 2h8r B 64 1.4 1.4 Renal cysts and diabetes syndrome (RCAD) HNF1B_HUMAN 156 K E 2h8r A 67 77.7 27.7 Renal cysts and diabetes syndrome (RCAD) HNF1B_HUMAN 164 K Q 2h8r B 75 40.6 21.6 Renal cysts and diabetes syndrome (RCAD) HNF1B_HUMAN 136 Q E 2h8r A 47 32.2 6.7 Renal cysts and diabetes syndrome (RCAD) HNF1B_HUMAN 112 R P 2h8r A 23 54.5 54.5 Renal cysts and diabetes syndrome (RCAD) HNF1B_HUMAN 165 R H 2h8r B 76 8.9 8.9 Renal cysts and diabetes syndrome (RCAD) HNF1B_HUMAN 148 S L 2h8r B 59 51.3 1.2 Renal cysts and diabetes syndrome (RCAD) HNF1B_HUMAN 148 S W 2h8r B 59 51.3 1.2 Renal cysts and diabetes syndrome (RCAD) HNF1B_HUMAN 151 S P 2h8r A 62 20 0.5 Renal cysts and diabetes syndrome (RCAD) HNF1B_HUMAN 110 V G 2h8r A 21 5.8 5.8 Renal cysts and diabetes syndrome (RCAD) HNF4A_HUMAN 285 E Q 3fs1 A 138 0 0 Maturity onset diabetes of the young type 1 (MODY1) HPPD_HUMAN 268 A V 3isq A 261 0 0 Tyrosinemia type 3 (TYRO3) HPPD_HUMAN 335 I M 3isq A 328 0.9 0.9 Tyrosinemia type 3 (TYRO3) HPPD_HUMAN 160 Y C 3isq A 153 22.7 22.7 Tyrosinemia type 3 (TYRO3) HPRT_HUMAN 161 A S 1bzy C 160 0 0 Gout HPRT_HUMAN 50 A P 1bzy A 49 0 0 Lesch-Nyhan syndrome (LNS) HPRT_HUMAN 50 A V 1bzy A 49 0 0 Lesch-Nyhan syndrome (LNS) HPRT_HUMAN 206 C Y 1bzy A 205 0 0 Lesch-Nyhan syndrome (LNS) HPRT_HUMAN 135 D G 1z7g B 134 1.5 1.5 Gout HPRT_HUMAN 177 D V 1d6n A 173 39.3 39.3 Lesch-Nyhan syndrome (LNS) HPRT_HUMAN 177 D Y 1d6n A 173 39.3 39.3 Lesch-Nyhan syndrome (LNS) HPRT_HUMAN 194 D E 1hmp A 193 10.4 10.4 Gout HPRT_HUMAN 194 D N 1hmp A 193 10.4 10.4 Lesch-Nyhan syndrome (LNS) HPRT_HUMAN 201 D G 1bzy A 200 60.7 1.7 Gout HPRT_HUMAN 201 D N 1bzy A 200 60.7 1.7 Gout HPRT_HUMAN 201 D Y 1bzy A 200 60.7 1.7 Lesch-Nyhan syndrome (LNS) HPRT_HUMAN 20 D V 1z7g B 19 85.2 58 Gout HPRT_HUMAN 80 D V 1d6n B 76 52.4 26.5 Gout HPRT_HUMAN 199 F V 1bzy A 198 0.1 0 Lesch-Nyhan syndrome (LNS) HPRT_HUMAN 74 F L 1z7g A 73 0 0 Lesch-Nyhan syndrome (LNS) HPRT_HUMAN 16 G D 1d6n A 12 6.6 6.6 Lesch-Nyhan syndrome (LNS) HPRT_HUMAN 16 G S 1d6n A 12 6.6 6.6 Gout HPRT_HUMAN 58 G R 1bzy D 57 1.1 1.1 Gout HPRT_HUMAN 70 G E 1bzy B 69 11.4 11.4 Lesch-Nyhan syndrome (LNS) HPRT_HUMAN 71 G R 1bzy A 70 0 0 Lesch-Nyhan syndrome (LNS) HPRT_HUMAN 7 G D 1hmp A 6 16.5 3.5 Gout HPRT_HUMAN 204 H D 1bzy B 203 10.3 0.6 Lesch-Nyhan syndrome (LNS) HPRT_HUMAN 204 H R 1bzy B 203 10.3 0.6 Lesch-Nyhan syndrome (LNS) HPRT_HUMAN 132 I M 1bzy A 131 0 0 Gout HPRT_HUMAN 132 I T 1bzy A 131 0 0 Lesch-Nyhan syndrome (LNS) HPRT_HUMAN 183 I T 1bzy A 182 0 0 Gout HPRT_HUMAN 42 I F 1bzy A 41 0 0 Lesch-Nyhan syndrome (LNS) HPRT_HUMAN 42 I T 1bzy A 41 0 0 Lesch-Nyhan syndrome (LNS) HPRT_HUMAN 131 L S 1bzy A 130 0 0 Lesch-Nyhan syndrome (LNS) HPRT_HUMAN 41 L P 1z7g A 40 41.6 1.8 Lesch-Nyhan syndrome (LNS) HPRT_HUMAN 78 L V 1bzy A 77 0 0 Gout HPRT_HUMAN 143 M K 1z7g B 142 0 0 Lesch-Nyhan syndrome (LNS) HPRT_HUMAN 54 M L 1bzy C 53 4.3 4.3 Lesch-Nyhan syndrome (LNS) HPRT_HUMAN 57 M T 1hmp A 56 0 0 Lesch-Nyhan syndrome (LNS) HPRT_HUMAN 176 P L 1d6n B 172 7.2 7.2 Lesch-Nyhan syndrome (LNS) HPRT_HUMAN 45 R K 1bzy A 44 12.7 1.5 Lesch-Nyhan syndrome (LNS) HPRT_HUMAN 48 R H 1d6n B 44 50.6 9.9 Gout HPRT_HUMAN 51 R G 2vfa B 59 17.7 17.7 Gout HPRT_HUMAN 51 R P 2vfa B 59 17.7 17.7 Lesch-Nyhan syndrome (LNS) HPRT_HUMAN 104 S R 1bzy C 103 5.6 5.6 Gout HPRT_HUMAN 110 S L 1bzy A 109 15.9 15.9 Gout HPRT_HUMAN 162 S R 1bzy B 161 0 0 Lesch-Nyhan syndrome (LNS) HPRT_HUMAN 168 T I 1d6n B 164 1.7 1.7 Gout HPRT_HUMAN 130 V D 1d6n A 126 0 0 Lesch-Nyhan syndrome (LNS) HPRT_HUMAN 53 V A 1z7g B 52 0 0 Gout HPRT_HUMAN 53 V M 1z7g B 52 0 0 Gout HPRT_HUMAN 8 V G 1bzy D 7 39.1 1.3 Lesch-Nyhan syndrome (LNS) HPRT_HUMAN 195 Y C 1bzy B 194 2 2 Gout HTAI2_HUMAN 116 A T 2bka A 116 0 0 Hepatocellular carcinoma HTAI2_HUMAN 108 D Y 2bka A 108 1.2 0.8 Hepatocellular carcinoma HTAI2_HUMAN 134 G V 2bka A 134 49.4 49.4 Hepatocellular carcinoma HTAI2_HUMAN 144 L I 2bka A 144 22 17.3 Hepatocellular carcinoma HTAI2_HUMAN 106 R S 2bka A 106 40.2 40.2 Hepatocellular carcinoma HTRA2_HUMAN 399 G S 2pzd A 45 53 52.5 Parkinson disease type 13 (PARK13) HXK1_HUMAN 529 L S 1hkc A 529 0 0 Hexokinase deficiency HXK1_HUMAN 680 T S 1cza N 680 23.2 23.2 Hexokinase deficiency HXK3_HUMAN 499 A V 3hm8 A 22 52.8 52.8 A breast cancer sample HXK3_HUMAN 480 R W 3hm8 A 3 32.7 32.7 A colorectal cancer sample HXK4_HUMAN 119 A D 3a0i X 109 0 0 Maturity onset diabetes of the young type 2 (MODY2) HXK4_HUMAN 188 A T 1v4s A 178 0 0 Maturity onset diabetes of the young type 2 (MODY2) HXK4_HUMAN 259 A T 3goi A 249 2.6 2.6 Maturity onset diabetes of the young type 2 (MODY2) HXK4_HUMAN 384 A T 1v4s A 374 0 0 Maturity onset diabetes of the young type 2 (MODY2) HXK4_HUMAN 53 A S 3fgu A 58 0.4 0.4 Maturity onset diabetes of the young type 2 (MODY2) HXK4_HUMAN 213 C R 4dch A 213 0.6 0.6 Maturity onset diabetes of the young type 2 (MODY2) HXK4_HUMAN 382 C Y 1v4s A 372 0 0 Maturity onset diabetes of the young type 2 (MODY2) HXK4_HUMAN 221 E K 3imx A 211 9.5 9.5 Maturity onset diabetes of the young type 2 (MODY2) HXK4_HUMAN 256 E K 3vey A 246 4.3 4.3 Maturity onset diabetes of the young type 2 (MODY2) HXK4_HUMAN 279 E Q 3h1v X 265 67.9 67.9 Maturity onset diabetes of the young type 2 (MODY2) HXK4_HUMAN 300 E K 1v4t A 286 9.1 9.1 Maturity onset diabetes of the young type 2 (MODY2) HXK4_HUMAN 300 E Q 1v4t A 286 9.1 9.1 Maturity onset diabetes of the young type 2 (MODY2) HXK4_HUMAN 70 E K 3vf6 A 75 24.1 24.1 Maturity onset diabetes of the young type 2 (MODY2) HXK4_HUMAN 150 F S 3fgu A 155 0.6 0.6 Maturity onset diabetes of the young type 2 (MODY2) HXK4_HUMAN 175 G R 3imx A 165 55.8 55.8 Maturity onset diabetes of the young type 2 (MODY2) HXK4_HUMAN 227 G C 1v4t A 213 3.3 3.3 Maturity onset diabetes of the young type 2 (MODY2) HXK4_HUMAN 261 G E 3f9m A 266 0.7 0.7 Maturity onset diabetes of the young type 2 (MODY2) HXK4_HUMAN 261 G R 3f9m A 266 0.7 0.7 Maturity onset diabetes of the young type 2 (MODY2) HXK4_HUMAN 299 G R 3goi A 289 1.1 1.1 Maturity onset diabetes of the young type 2 (MODY2) HXK4_HUMAN 385 G V 1v4s A 375 0 0 Maturity onset diabetes of the young type 2 (MODY2) HXK4_HUMAN 80 G A 4dhy A 84 1.4 1.4 Maturity onset diabetes of the young type 2 (MODY2) HXK4_HUMAN 80 G S 4dhy A 84 1.4 1.4 Maturity onset diabetes of the young type 2 (MODY2) HXK4_HUMAN 137 H R 1v4s A 127 13.1 13.1 Maturity onset diabetes of the young type 2 (MODY2) HXK4_HUMAN 110 I T 3fgu A 115 5.8 5.8 Maturity onset diabetes of the young type 2 (MODY2) HXK4_HUMAN 414 K E 3h1v X 400 25.9 25.9 Maturity onset diabetes of the young type 2 (MODY2) HXK4_HUMAN 164 L P 3imx A 154 0 0 Maturity onset diabetes of the young type 2 (MODY2) HXK4_HUMAN 309 L P 1v4s A 299 0 0 Maturity onset diabetes of the young type 2 (MODY2) HXK4_HUMAN 210 M K 1v4t A 196 0.3 0.3 Maturity onset diabetes of the young type 2 (MODY2) HXK4_HUMAN 210 M T 1v4t A 196 0.3 0.3 Maturity onset diabetes of the young type 2 (MODY2) HXK4_HUMAN 36 R W 4dhy A 40 25.5 25.5 Maturity onset diabetes of the young type 2 (MODY2) HXK4_HUMAN 392 R C 3goi A 382 8.2 8.2 Maturity onset diabetes of the young type 2 (MODY2) HXK4_HUMAN 131 S P 3fgu A 136 1.8 1.8 Maturity onset diabetes of the young type 2 (MODY2) HXK4_HUMAN 336 S L 1v4t A 322 10.1 10.1 Maturity onset diabetes of the young type 2 (MODY2) HXK4_HUMAN 168 T P 3s41 A 172 3.6 3.6 Maturity onset diabetes of the young type 2 (MODY2) HXK4_HUMAN 209 T M 3idh A 214 0 0 Maturity onset diabetes of the young type 2 (MODY2) HXK4_HUMAN 228 T M 4dhy A 232 25.6 25.6 Maturity onset diabetes of the young type 2 (MODY2) HXK4_HUMAN 182 V M 1v4s A 172 0 0 Maturity onset diabetes of the young type 2 (MODY2) HXK4_HUMAN 203 V A 3f9m A 208 1.2 1.2 Maturity onset diabetes of the young type 2 (MODY2) HXK4_HUMAN 226 V M 1v4s A 216 0 0 Maturity onset diabetes of the young type 2 (MODY2) HXK4_HUMAN 367 V M 1v4s A 357 0 0 Maturity onset diabetes of the young type 2 (MODY2) HXK4_HUMAN 455 V M 1v4t A 441 0 0 Familial hyperinsulinemic hypoglycemia type 3 (HHF3) HXK4_HUMAN 257 W R 1v4s A 247 0 0 Maturity onset diabetes of the young type 2 (MODY2) HXK4_HUMAN 108 Y H 3h1v X 94 9.9 9.9 Maturity onset diabetes of the young type 2 (MODY2) HYAL1_HUMAN 268 E K 2pe4 A 249 2.9 2.9 Mucopolysaccharidosis type 9 (MPS9) IC1_HUMAN 456 A E 2oay A 346 0 0 Hereditary angioedema (HAE) IC1_HUMAN 458 A T 2oay A 348 0 0 Hereditary angioedema (HAE) IC1_HUMAN 458 A V 2oay A 348 0 0 Hereditary angioedema (HAE) IC1_HUMAN 465 A V 2oay A 355 12.6 12.6 Hereditary angioedema (HAE) IC1_HUMAN 130 C Y 2oay A 20 29.4 29.4 Hereditary angioedema (HAE) IC1_HUMAN 408 D V 2oay A 298 20.4 20.4 Hereditary angioedema (HAE) IC1_HUMAN 477 F S 2oay A 367 3.8 3.8 Hereditary angioedema (HAE) IC1_HUMAN 345 G R 2oay A 235 11.1 11.1 Hereditary angioedema (HAE) IC1_HUMAN 429 G R 2oay A 319 3.7 3.7 Hereditary angioedema (HAE) IC1_HUMAN 493 G E 2oay A 383 0 0 Hereditary angioedema (HAE) IC1_HUMAN 481 L P 2oay A 371 0 0 Hereditary angioedema (HAE) IC1_HUMAN 481 L R 2oay A 371 0 0 Hereditary angioedema (HAE) IC1_HUMAN 489 P R 2oay A 379 0.9 0.9 Hereditary angioedema (HAE) IC1_HUMAN 498 P R 2oay A 388 86.5 86.5 Hereditary angioedema (HAE) IC1_HUMAN 498 P S 2oay A 388 86.5 86.5 Hereditary angioedema (HAE) IC1_HUMAN 466 R C 2oay A 356 54.3 54.3 Hereditary angioedema (HAE) IC1_HUMAN 466 R H 2oay A 356 54.3 54.3 Hereditary angioedema (HAE) IC1_HUMAN 466 R L 2oay A 356 54.3 54.3 Hereditary angioedema (HAE) IC1_HUMAN 466 R S 2oay A 356 54.3 54.3 Hereditary angioedema (HAE) IC1_HUMAN 394 T P 2oay A 284 21 21 Hereditary angioedema (HAE) IC1_HUMAN 467 T P 2oay A 357 59.1 59.1 Hereditary angioedema (HAE) IC1_HUMAN 454 V E 2oay A 344 0.8 0.8 Hereditary angioedema (HAE) IC1_HUMAN 473 V E 2oay A 363 7.3 7.3 Hereditary angioedema (HAE) IC1_HUMAN 473 V M 2oay A 363 7.3 7.3 Hereditary angioedema (HAE) ICAM5_HUMAN 140 L V 3bn3 B 109 0.2 0.2 A breast cancer sample ICAM5_HUMAN 188 R W 3bn3 B 157 38.6 38.6 A breast cancer sample IDHC_HUMAN 132 R C 3inm A 132 0 0 A colorectal cancer sample IDHC_HUMAN 132 R G 3inm A 132 0 0 Glioblastoma multiforme (GBM) IDHC_HUMAN 132 R H 3inm A 132 0 0 Glioblastoma multiforme (GBM) IDHC_HUMAN 132 R L 3inm A 132 0 0 Glioblastoma multiforme (GBM) IDHC_HUMAN 132 R S 3inm A 132 0 0 Glioblastoma multiforme (GBM) IF_HUMAN 46 S L 2pmv C 28 32.1 32.1 Hereditary intrinsic factor deficiency (IFD) IF4A2_HUMAN 181 V L 3bor A 178 1.2 1.2 A breast cancer sample IFNA2_HUMAN 177 S L 2hym B 154 0 0 A breast cancer sample IFNB_HUMAN 164 W C 1au1 A 143 0 0 A breast cancer sample IGLL1_HUMAN 142 P L 2h3n D 49 6 0.7 Autosomal recessive non-Bruton type agammaglobulinemia IL2RG_HUMAN 156 A V 2b5i C 101 24.9 24.9 X-linked severe combined immunodeficiency (XSCID) IL2RG_HUMAN 115 C F 2b5i C 60 0 0 X-linked severe combined immunodeficiency (XSCID) IL2RG_HUMAN 115 C R 2b5i C 60 0 0 X-linked severe combined immunodeficiency (XSCID) IL2RG_HUMAN 182 C R 2b5i C 127 9.9 3.9 X-linked severe combined immunodeficiency (XSCID) IL2RG_HUMAN 231 C Y 2b5i C 176 17.4 0 X-linked severe combined immunodeficiency (XSCID) IL2RG_HUMAN 62 C G 2b5i C 7 2.1 2.1 X-linked severe combined immunodeficiency (XSCID) IL2RG_HUMAN 68 E G 2b5i C 13 32.7 32.7 X-linked severe combined immunodeficiency (XSCID) IL2RG_HUMAN 68 E K 2b5i C 13 32.7 32.7 X-linked severe combined immunodeficiency (XSCID) IL2RG_HUMAN 227 F C 2b5i C 172 1.5 1.2 X-linked severe combined immunodeficiency (XSCID) IL2RG_HUMAN 114 G D 2b5i C 59 0 0 X-linked severe combined immunodeficiency (XSCID) IL2RG_HUMAN 232 G R 2b5i C 177 9.1 0 X-linked severe combined immunodeficiency (XSCID) IL2RG_HUMAN 123 H P 2b5i C 68 38.6 38.6 X-linked severe combined immunodeficiency (XSCID) IL2RG_HUMAN 153 I N 2b5i C 98 11.5 11.5 X-linked severe combined immunodeficiency (XSCID) IL2RG_HUMAN 162 L H 3bpl C 107 14.1 14.1 X-linked severe combined immunodeficiency (XSCID) IL2RG_HUMAN 172 L P 3bpl C 117 0.1 0.1 X-linked severe combined immunodeficiency (XSCID) IL2RG_HUMAN 172 L Q 3bpl C 117 0.1 0.1 X-linked severe combined immunodeficiency (XSCID) IL2RG_HUMAN 183 L S 2b5i C 128 2.8 2.8 X-linked severe combined immunodeficiency (XSCID) IL2RG_HUMAN 230 L P 2erj C 213 61.2 7.9 X-linked severe combined immunodeficiency (XSCID) IL2RG_HUMAN 84 N K 2b5i C 29 52.6 52.6 X-linked severe combined immunodeficiency (XSCID) IL2RG_HUMAN 144 Q P 2erj C 127 25.5 25.5 X-linked severe combined immunodeficiency (XSCID) IL2RG_HUMAN 222 R C 2erj C 205 23 23 X-linked combined immunodeficiency (XCID) IL2RG_HUMAN 224 R W 3bpl C 169 22.6 22.6 X-linked severe combined immunodeficiency (XSCID) IL2RG_HUMAN 226 R C 2erj C 209 21.2 21.2 X-linked severe combined immunodeficiency (XSCID) IL2RG_HUMAN 226 R H 2erj C 209 21.2 21.2 X-linked severe combined immunodeficiency (XSCID) IL2RG_HUMAN 241 S I 3bpl C 186 3.9 3.9 X-linked severe combined immunodeficiency (XSCID) IL2RG_HUMAN 240 W C 3bpl C 185 23.5 23.5 X-linked severe combined immunodeficiency (XSCID) IL2RG_HUMAN 105 Y C 2b5i C 50 30.1 30.1 X-linked severe combined immunodeficiency (XSCID) IL2RG_HUMAN 125 Y N 3bpl C 70 56.4 8.7 X-linked severe combined immunodeficiency (XSCID) IL2RG_HUMAN 89 Y C 2erj C 72 2.9 2.9 X-linked severe combined immunodeficiency (XSCID) IL7RA_HUMAN 138 I V 3up1 B 122 50.6 50.6 Autosomal recessive severe combined immunodeficiency T-cell-negative/B-cell-positive/NK cell-positive (T(-)/B(+)/NK(+) SCID) IL7RA_HUMAN 132 P S 3di2 B 116 1.3 1.3 Autosomal recessive severe combined immunodeficiency T-cell-negative/B-cell-positive/NK cell-positive (T(-)/B(+)/NK(+) SCID) IL7RA_HUMAN 66 T I 3up1 B 50 4.4 4.4 Autosomal recessive severe combined immunodeficiency T-cell-negative/B-cell-positive/NK cell-positive (T(-)/B(+)/NK(+) SCID) ING1_HUMAN 358 C S 2qic A 16 30 30 Squamous cell carcinoma of the head and neck (HNSCC) ING1_HUMAN 359 N S 2qic A 17 72.4 72.4 Squamous cell carcinoma of the head and neck (HNSCC) INGR1_HUMAN 77 C Y 1fg9 E 60 12.1 12.1 Mendelian susceptibility to mycobacterial disease (MSMD) INGR1_HUMAN 87 I T 1fyh B 70 0 0 Mendelian susceptibility to mycobacterial disease (MSMD) INS_HUMAN 34 H D 1uz9 B 10 62.6 6.3 Familial hyperproinsulinemia INS_HUMAN 89 R H 2kqp A 65 55.4 55.4 Familial hyperproinsulinemia INS_HUMAN 89 R L 2kqp A 65 55.4 55.4 Familial hyperproinsulinemia INSL3_HUMAN 110 N K 2h8b A 5 48.6 48.6 Cryptorchidism INSR_HUMAN 1055 A V 1irk A 51 0 0 Insulin resistance (Ins resistance) INSR_HUMAN 1075 A D 2b4s D 71 6.7 0 Insulin resistance (Ins resistance) INSR_HUMAN 1161 A T 1gag A 157 0 0 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) INSR_HUMAN 1162 A E 1gag A 158 0 0 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) INSR_HUMAN 1206 E D 3bu6 A 202 12.7 12.7 Insulin resistance (Ins resistance) INSR_HUMAN 1206 E K 3bu6 A 202 12.7 12.7 Leprechaunism INSR_HUMAN 1035 G V 1ir3 A 31 0.1 0.1 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) INSR_HUMAN 1143 I T 1gag A 139 0 0 Rabson-Mendenhall syndrome INSR_HUMAN 1180 M I 2auh A 176 10 2.8 Insulin resistance (Ins resistance) INSR_HUMAN 1205 P L 3bu5 A 201 1.5 1.5 Insulin resistance (Ins resistance) INSR_HUMAN 1020 R Q 2z8c A 13 27.8 27.8 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) INSR_HUMAN 1119 R W 3ekk A 116 15.3 15.3 Leprechaunism INSR_HUMAN 1158 R Q 2auh A 154 3.9 3.1 Insulin resistance (Ins resistance) INSR_HUMAN 1158 R W 2auh A 154 3.9 3.1 Rabson-Mendenhall syndrome INSR_HUMAN 1191 R Q 3ekn A 188 10.9 10.9 Noninsulin-dependent diabetes mellitus (NIDDM) INSR_HUMAN 1201 R Q 2z8c A 194 10.3 6.7 Familial hyperinsulinemic hypoglycemia 5 (HHF5) INSR_HUMAN 1201 R W 2z8c A 194 10.3 6.7 Leprechaunism INSR_HUMAN 1220 W L 2auh A 216 1.1 1.1 Insulin resistance (Ins resistance) INSR_HUMAN 1227 W S 2b4s D 223 4.1 4.1 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) INSR_HUMAN 119 A V 2hr7 A 92 0 0 Leprechaunism INSR_HUMAN 228 C R 2hr7 A 201 1.1 1.1 A gastric adenocarcinoma sample INSR_HUMAN 280 C Y 2hr7 A 253 8.5 8.5 Insulin resistance (Ins resistance) INSR_HUMAN 301 C Y 2hr7 A 274 46 46 Leprechaunism INSR_HUMAN 86 D G 2hr7 A 59 8.3 8.3 Insulin resistance (Ins resistance) INSR_HUMAN 409 F V 2hr7 A 382 0 0 Insulin resistance (Ins resistance) INSR_HUMAN 386 G S 2hr7 A 359 7.2 7.2 Rabson-Mendenhall syndrome INSR_HUMAN 393 G R 2hr7 A 366 1.3 1.3 Leprechaunism INSR_HUMAN 58 G R 2hr7 A 31 13.7 13.7 Leprechaunism INSR_HUMAN 236 H R 2hr7 A 209 25.2 25.2 Leprechaunism INSR_HUMAN 146 I M 2hr7 A 119 0 0 Leprechaunism INSR_HUMAN 487 K E 2hr7 A 460 89 89 Leprechaunism INSR_HUMAN 120 L Q 2hr7 A 93 0 0 Leprechaunism INSR_HUMAN 260 L P 2hr7 A 233 15.4 15.4 Leprechaunism INSR_HUMAN 89 L P 2hr7 A 62 5.7 5.7 Insulin resistance (Ins resistance) INSR_HUMAN 42 N K 2hr7 A 15 61.6 61.6 Rabson-Mendenhall syndrome INSR_HUMAN 458 N D 2hr7 A 431 0 0 Leprechaunism INSR_HUMAN 489 N S 2hr7 A 462 2.4 2.4 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) INSR_HUMAN 220 P L 2hr7 A 193 44.1 44.1 Insulin resistance (Ins resistance) INSR_HUMAN 113 R P 2hr7 A 86 65.8 65.8 Leprechaunism INSR_HUMAN 279 R C 2hr7 A 252 18 18 Insulin resistance (Ins resistance) INSR_HUMAN 279 R H 2hr7 A 252 18 18 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) INSR_HUMAN 350 S L 2hr7 A 323 34.1 34.1 Leprechaunism INSR_HUMAN 167 V L 2hr7 A 140 36.6 36.6 Insulin resistance (Ins resistance) INSR_HUMAN 55 V A 2hr7 A 28 11.8 11.8 Leprechaunism INSR_HUMAN 439 W S 2hr7 A 412 1.9 1.9 Leprechaunism ISK1_HUMAN 34 N S 1cgi I 11 71.2 70.8 Hereditary pancreatitis (HPC) ITA2B_HUMAN 1026 R Q 1m8o A 7 78.3 40.7 Glanzmann thrombasthenia (GT) ITA2B_HUMAN 139 A V 1tye C 108 0 0 Glanzmann thrombasthenia (GT) ITA2B_HUMAN 161 C W 1tye C 130 0 0 Glanzmann thrombasthenia (GT) ITA2B_HUMAN 355 E K 1tye C 324 19.2 1.3 Glanzmann thrombasthenia (GT) ITA2B_HUMAN 202 F C 2vc2 A 171 25.6 2.2 Glanzmann thrombasthenia (GT) ITA2B_HUMAN 222 F L 2vdp A 191 32.6 0.4 Glanzmann thrombasthenia (GT) ITA2B_HUMAN 320 F S 1tye C 289 0 0 Glanzmann thrombasthenia (GT) ITA2B_HUMAN 267 G E 1tye C 236 0 0 Glanzmann thrombasthenia (GT) ITA2B_HUMAN 273 G D 3nig C 242 10.3 10.3 Glanzmann thrombasthenia (GT) ITA2B_HUMAN 380 G D 2vc2 A 349 4.5 4.5 Glanzmann thrombasthenia (GT) ITA2B_HUMAN 412 G R 2vdk A 381 0.9 0.9 Glanzmann thrombasthenia (GT) ITA2B_HUMAN 449 G D 1tye C 418 0 0 Glanzmann thrombasthenia (GT) ITA2B_HUMAN 405 I T 1tye C 374 0 0 Glanzmann thrombasthenia (GT) ITA2B_HUMAN 214 L P 2vdk A 183 0 0 Glanzmann thrombasthenia (GT) ITA2B_HUMAN 86 L P 3nig A 55 17.7 5 Glanzmann thrombasthenia (GT) ITA2B_HUMAN 176 P A 3fcu C 145 7.8 7.8 Glanzmann thrombasthenia (GT) ITA2B_HUMAN 176 P L 3fcu C 145 7.8 7.8 Glanzmann thrombasthenia (GT) ITA2B_HUMAN 358 R H 2vc2 A 327 9.5 9.5 Glanzmann thrombasthenia (GT) ITA2B_HUMAN 207 T I 3nig A 176 0.2 0.2 Glanzmann thrombasthenia (GT) ITA2B_HUMAN 329 V F 1tye C 298 0 0 Glanzmann thrombasthenia (GT) ITA2B_HUMAN 174 Y H 3fcs A 143 0.9 0.9 Glanzmann thrombasthenia (GT) ITA2B_HUMAN 581 A D 3fcs A 550 0 0 Glanzmann thrombasthenia (GT) ITA2B_HUMAN 705 C R 3fcs A 674 15.9 15.9 Glanzmann thrombasthenia (GT) ITA2B_HUMAN 596 I T 3fcs A 565 0.2 0.2 Glanzmann thrombasthenia (GT) ITA2B_HUMAN 752 L V 3fcs A 721 0 0 Glanzmann thrombasthenia (GT) ITA2B_HUMAN 847 L P 3fcs A 816 13.6 13.6 Glanzmann thrombasthenia (GT) ITA2B_HUMAN 943 P L 3fcs A 912 62 62 Glanzmann thrombasthenia (GT) ITA2B_HUMAN 778 Q P 3fcs A 747 59.6 59.6 Glanzmann thrombasthenia (GT) ITA2B_HUMAN 755 R P 3fcs A 724 31.4 31.4 Glanzmann thrombasthenia (GT) ITA2B_HUMAN 982 V M 3fcs A 951 2.5 2.5 Glanzmann thrombasthenia (GT) ITB2_HUMAN 128 D N 3k6s B 106 0 0 Leukocyte adhesion deficiency type I (LAD1) ITB2_HUMAN 169 G R 3k6s B 147 0 0 Leukocyte adhesion deficiency type I (LAD1) ITB2_HUMAN 273 G R 3k6s B 251 0 0 Leukocyte adhesion deficiency type I (LAD1) ITB2_HUMAN 284 G S 3k6s B 262 8.5 7.9 Leukocyte adhesion deficiency type I (LAD1) ITB2_HUMAN 196 K T 3k71 B 174 43 43 Leukocyte adhesion deficiency type I (LAD1) ITB2_HUMAN 149 L P 3k72 B 127 44.5 44.5 Leukocyte adhesion deficiency type I (LAD1) ITB2_HUMAN 351 N S 3k72 B 329 42.4 42.4 Leukocyte adhesion deficiency type I (LAD1) ITB2_HUMAN 178 P L 3k72 B 156 45 1.9 Leukocyte adhesion deficiency type I (LAD1) ITB2_HUMAN 586 R W 3k6s B 564 58.9 58.9 Leukocyte adhesion deficiency type I (LAD1) ITB2_HUMAN 593 R C 3k72 B 571 50.1 50.1 Leukocyte adhesion deficiency type I (LAD1) ITB2_HUMAN 138 S P 3k6s B 116 46 46 Leukocyte adhesion deficiency type I (LAD1) ITB3_HUMAN 400 C Y 1u8c B 374 12 12 Glanzmann thrombasthenia (GT) ITB3_HUMAN 568 C R 1jv2 B 542 5.9 5.9 Glanzmann thrombasthenia (GT) ITB3_HUMAN 586 C F 1jv2 B 560 16.8 16.8 Glanzmann thrombasthenia (GT) ITB3_HUMAN 586 C R 1jv2 B 560 16.8 16.8 Glanzmann thrombasthenia (GT) ITB3_HUMAN 601 C R 1jv2 B 575 0 0 Glanzmann thrombasthenia (GT) ITB3_HUMAN 145 D N 1jv2 B 119 0 0 Glanzmann thrombasthenia (GT) ITB3_HUMAN 145 D Y 1jv2 B 119 0 0 Glanzmann thrombasthenia (GT) ITB3_HUMAN 243 D V 1l5g B 217 33.2 0 Glanzmann thrombasthenia (GT) ITB3_HUMAN 598 G S 1m1x B 572 28.7 28.7 Glanzmann thrombasthenia (GT) ITB3_HUMAN 605 G S 1m1x B 579 12 12 Glanzmann thrombasthenia (GT) ITB3_HUMAN 306 H P 2vdp B 280 32.4 32.4 Glanzmann thrombasthenia (GT) ITB3_HUMAN 330 I N 3fcs B 304 3.7 3.7 Glanzmann thrombasthenia (GT) ITB3_HUMAN 143 L W 1jv2 B 117 0 0 Glanzmann thrombasthenia (GT) ITB3_HUMAN 222 L P 3nig D 196 3.6 3.6 Glanzmann thrombasthenia (GT) ITB3_HUMAN 288 L P 2vdq B 262 74.2 0 Glanzmann thrombasthenia (GT) ITB3_HUMAN 150 M V 1tye D 124 0 0 Glanzmann thrombasthenia (GT) ITB3_HUMAN 321 M L 1m1x B 295 0.2 0.2 Glanzmann thrombasthenia (GT) ITB3_HUMAN 119 R W 1u8c B 93 0.7 0.7 Glanzmann thrombasthenia (GT) ITB3_HUMAN 240 R Q 1l5g B 214 12.2 9.1 Glanzmann thrombasthenia (GT) ITB3_HUMAN 240 R W 1l5g B 214 12.2 9.1 Glanzmann thrombasthenia (GT) ITB3_HUMAN 242 R Q 2vdq B 216 52.6 1 Glanzmann thrombasthenia (GT) ITB3_HUMAN 188 S L 3fcu D 162 38.1 10.2 Glanzmann thrombasthenia (GT) ITB3_HUMAN 141 Y C 1jv2 B 115 0 0 Glanzmann thrombasthenia (GT) ITB3_HUMAN 778 S P 2ljf A 57 27.1 27.1 Glanzmann thrombasthenia (GT) ITB3_HUMAN 532 C Y 3ije B 506 9.2 9.2 Glanzmann thrombasthenia (GT) ITB4_HUMAN 1225 R H 3f7p C 103 64.1 17.7 Epidermolysis bullosa letalis with pyloric atresia (EB-PA) ITB4_HUMAN 1281 R W 3f7p C 159 37.8 2 Epidermolysis bullosa letalis with pyloric atresia (EB-PA) ITK_HUMAN 451 R Q 1sm2 A 95 38.7 38.7 A gastric adenocarcinoma sample ITPA_HUMAN 32 P T 2car A 34 6.5 6.5 Inosine triphosphate pyrophosphohydrolase deficiency (ITPA deficiency) IVD_HUMAN 311 A V 1ivh B 282 29 14.3 Isovaleric acidemia (IVA) IVD_HUMAN 357 C R 1ivh C 328 0 0 Isovaleric acidemia (IVA) IVD_HUMAN 69 D N 1ivh A 40 11.9 11.9 Isovaleric acidemia (IVA) IVD_HUMAN 199 G V 1ivh D 170 1.9 1.9 Isovaleric acidemia (IVA) IVD_HUMAN 42 L P 1ivh D 13 2.6 2.6 Isovaleric acidemia (IVA) IVD_HUMAN 392 R C 1ivh B 363 9.8 9.8 Isovaleric acidemia (IVA) IVD_HUMAN 411 R L 1ivh C 382 49.1 14.3 Isovaleric acidemia (IVA) IVD_HUMAN 50 R P 1ivh C 21 3.9 3.9 Isovaleric acidemia (IVA) IVD_HUMAN 371 V A 1ivh A 342 0 0 Isovaleric acidemia (IVA) JAG1_HUMAN 271 C R 2kb9 A 20 4.4 4.4 Alagille syndrome type 1 (ALGS1) JAG1_HUMAN 284 C F 2vj2 A 118 37.9 37.9 Alagille syndrome type 1 (ALGS1) JAG1_HUMAN 256 G S 2vj2 A 90 0.4 0.4 Alagille syndrome type 1 (ALGS1) JAG1_HUMAN 274 G D 2vj2 A 108 17.3 17.3 Tetralogy of Fallot (TOF) JAG1_HUMAN 269 P L 2kb9 A 18 56.8 56.8 Alagille syndrome type 1 (ALGS1) JAG1_HUMAN 252 R G 2vj2 A 86 53.9 53.9 Alagille syndrome type 1 (ALGS1) JAG1_HUMAN 288 W C 2vj2 A 122 26 26 Alagille syndrome type 1 (ALGS1) JAG1_HUMAN 187 C S 2vj2 A 21 76.4 76.4 Alagille syndrome type 1 (ALGS1) JAG1_HUMAN 187 C Y 2vj2 A 21 76.4 76.4 Alagille syndrome type 1 (ALGS1) JAG1_HUMAN 220 C F 2vj2 A 54 33.4 33.4 Alagille syndrome type 1 (ALGS1) JAG1_HUMAN 229 C G 2vj2 A 63 0.2 0.2 Alagille syndrome type 1 (ALGS1) JAG1_HUMAN 229 C Y 2vj2 A 63 0.2 0.2 Alagille syndrome type 1 (ALGS1) JAG1_HUMAN 224 W C 2vj2 A 58 14.3 14.3 Alagille syndrome type 1 (ALGS1) JAK3_HUMAN 910 L S 1yvj A 97 0 0 Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-)SCID) KAD2_HUMAN 165 D G 2c9y A 166 3.6 3.6 Reticular dysgenesis (RDYS) KAD2_HUMAN 103 R W 2c9y A 104 37 37 Reticular dysgenesis (RDYS) KALM_HUMAN 163 C Y 1zlg A 140 19.8 19.8 Kallmann syndrome type 1 (KAL1) KALM_HUMAN 172 C R 1zlg A 149 32.7 32.7 Kallmann syndrome type 1 (KAL1) KALM_HUMAN 514 E K 1zlg A 491 33.1 33.1 Kallmann syndrome type 1 (KAL1) KALM_HUMAN 517 F L 1zlg A 494 28.7 28.7 Kallmann syndrome type 1 (KAL1) KALM_HUMAN 267 N K 1zlg A 244 20.3 20.3 Kallmann syndrome type 1 (KAL1) KALM_HUMAN 304 N S 1zlg A 281 43.9 43.9 Kallmann syndrome type 1 (KAL1) KALM_HUMAN 262 R P 1zlg A 239 17.2 17.2 Kallmann syndrome type 1 (KAL1) KALM_HUMAN 396 S L 1zlg A 373 53.1 53.1 Kallmann syndrome type 1 (KAL1) KALM_HUMAN 571 W R 1zlg A 548 21.7 21.7 Kallmann syndrome type 1 (KAL1) KCC4_HUMAN 150 E G 2w4o A 159 32.3 32.3 A lung adenocarcinoma sample KCND3_HUMAN 94 V M 2nz0 B 89 0 0 A colorectal cancer sample KCNE1_HUMAN 76 D N 2k21 A 85 38 38 Jervell and Lange-Nielsen syndrome type 2 (JLNS2) KCNE1_HUMAN 51 L H 2k21 A 60 78.4 78.4 Jervell and Lange-Nielsen syndrome type 2 (JLNS2) KCNE1_HUMAN 127 P T 2k21 A 136 102.6 102.6 Long QT syndrome type 5 (LQT5) KCNE1_HUMAN 32 R H 2k21 A 41 90.7 90.7 Long QT syndrome type 5 (LQT5) KCNE1_HUMAN 98 R W 2k21 A 107 38.1 38.1 Long QT syndrome type 5 (LQT5) KCNE1_HUMAN 74 S L 2k21 A 83 56.7 56.7 Long QT syndrome type 5 (LQT5) KCNE1_HUMAN 7 T I 2k21 A 16 61.5 61.5 Jervell and Lange-Nielsen syndrome type 2 (JLNS2) KCNE1_HUMAN 109 V I 2k21 A 118 50 50 Long QT syndrome type 5 (LQT5) KCNE1_HUMAN 47 V F 2k21 A 56 79.9 79.9 Jervell and Lange-Nielsen syndrome type 2 (JLNS2) KCNE1_HUMAN 87 W R 2k21 A 96 80.4 80.4 Long QT syndrome type 5 (LQT5) KCNH2_HUMAN 78 A P 2l1m A 78 0 0 Long QT syndrome type 2 (LQT2) KCNH2_HUMAN 66 C G 1byw A 41 0.3 0.3 Long QT syndrome type 2 (LQT2) KCNH2_HUMAN 29 F L 2l1m A 29 7.6 7.6 Long QT syndrome type 2 (LQT2) KCNH2_HUMAN 47 G V 2l4r A 47 0.1 0.1 Long QT syndrome type 2 (LQT2) KCNH2_HUMAN 53 G R 2l1m A 53 43.8 43.8 Long QT syndrome type 2 (LQT2) KCNH2_HUMAN 70 H R 2l4r A 70 27.3 27.3 Long QT syndrome type 2 (LQT2) KCNH2_HUMAN 86 L R 1byw A 61 8.2 8.2 Long QT syndrome type 2 (LQT2) KCNH2_HUMAN 33 N T 2l1m A 33 20 20 Long QT syndrome type 2 (LQT2) KCNH2_HUMAN 72 P Q 1byw A 47 91.8 91.8 Long QT syndrome type 2 (LQT2) KCNH2_HUMAN 100 R G 1byw A 75 20.5 20.5 Long QT syndrome type 2 (LQT2) KCNH2_HUMAN 56 R Q 1byw A 31 40.2 40.2 Long QT syndrome type 2 (LQT2) KCNH2_HUMAN 65 T P 2l1m A 65 15.4 15.4 Long QT syndrome type 2 (LQT2) KCNH2_HUMAN 609 D N 1ujl A 40 85.1 85.1 Long QT syndrome type 2 (LQT2) KCNH2_HUMAN 572 G C 1ujl A 3 77.1 77.1 Long QT syndrome type 2 (LQT2) KCNH2_HUMAN 572 G R 1ujl A 3 77.1 77.1 Long QT syndrome type 2 (LQT2) KCNH2_HUMAN 584 G S 1ujl A 15 16.8 16.8 Long QT syndrome type 2 (LQT2) KCNH2_HUMAN 601 G S 1ujl A 32 62.2 62.2 Long QT syndrome type 2 (LQT2) KCNH2_HUMAN 604 G S 1ujl A 35 16.8 16.8 Long QT syndrome type 2 (LQT2) KCNH2_HUMAN 593 I R 1ujl A 24 69.2 69.2 Long QT syndrome type 2 (LQT2) KCNH2_HUMAN 593 I T 1ujl A 24 69.2 69.2 Long QT syndrome type 2 (LQT2) KCNH2_HUMAN 588 N D 1ujl A 19 59.5 59.5 Long QT syndrome type 2 (LQT2) KCNH2_HUMAN 588 N K 1ujl A 19 59.5 59.5 Short QT syndrome type 1 (SQT1) KCNH2_HUMAN 582 R C 1ujl A 13 88.3 88.3 Long QT syndrome type 2 (LQT2) KCNH2_HUMAN 585 W C 1ujl A 16 62.9 62.9 Long QT syndrome type 2 (LQT2) KCNH2_HUMAN 611 Y H 1ujl A 42 93.1 93.1 Long QT syndrome type 2 (LQT2) KCNQ1_HUMAN 589 G D 3hfe A 9 51.8 18.1 Long QT syndrome type 1 (LQT1) KCNQ1_HUMAN 591 R H 3bj4 A 18 49.5 11.2 Long QT syndrome type 1 (LQT1) KCNQ1_HUMAN 594 R Q 3bj4 A 21 39.1 29.8 Long QT syndrome type 1 (LQT1) KCNQ1_HUMAN 587 T M 3bj4 B 14 46.6 46.6 Long QT syndrome type 1 (LQT1) KDM5C_HUMAN 87 D G 2jrz A 17 63.1 63.1 X-linked mental retardation (XLMR) KEAP1_HUMAN 522 A V 2flu X 221 0.5 0.5 A breast cancer sample KEAP1_HUMAN 364 G C 2flu X 63 15 11.9 A lung adenocarcinoma cell line KEAP1_HUMAN 430 G C 1u6d X 129 0 0 A lung adenocarcinoma patient KHK_HUMAN 43 A T 2hlz A 57 0 0 Fructosuria KHK_HUMAN 40 G R 2hlz A 54 0 0 Fructosuria KIME_HUMAN 148 A T 2r3v D 148 0 0 Hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) KIME_HUMAN 334 A T 2r3v D 334 10 10 Mevalonic aciduria KIME_HUMAN 171 G R 2r3v C 171 64.1 64.1 Hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) KIME_HUMAN 202 G R 2r3v D 202 4.2 4.2 Hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) KIME_HUMAN 211 G E 2r3v C 211 4.1 4.1 Hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) KIME_HUMAN 309 G S 2r3v C 309 53.3 53.3 Hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) KIME_HUMAN 326 G R 2r3v D 326 38.3 38.3 Hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) KIME_HUMAN 376 G V 2r3v D 376 0 0 Hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) KIME_HUMAN 20 H N 2r3v C 20 2.5 2.5 Hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) KIME_HUMAN 20 H P 2r3v C 20 2.5 2.5 Hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) KIME_HUMAN 20 H Q 2r3v C 20 2.5 2.5 Hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) KIME_HUMAN 268 I T 2r3v C 268 0.2 0.2 Hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) KIME_HUMAN 264 L F 2r3v C 264 17.2 0 Mevalonic aciduria KIME_HUMAN 265 L P 2r3v C 265 2.6 2.6 Mevalonic aciduria KIME_HUMAN 265 L R 2r3v C 265 2.6 2.6 Hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) KIME_HUMAN 39 L P 2r3v D 39 0 0 Hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) KIME_HUMAN 301 N T 2r3v C 301 0 0 Mevalonic aciduria KIME_HUMAN 167 P L 2r3v C 167 4.7 4.7 Hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) KIME_HUMAN 215 R Q 2r3v C 215 24.7 24.7 Hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) KIME_HUMAN 135 S L 2r3v D 135 17.5 17.5 Hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) KIME_HUMAN 150 S L 2r3v D 150 0.1 0.1 Hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) KIME_HUMAN 243 T I 2r3v D 243 37.9 37.9 Mevalonic aciduria KIME_HUMAN 132 V I 2r3v C 132 5.3 5.3 Hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) KIME_HUMAN 250 V I 2r3v D 250 0.8 0.8 Hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) KIME_HUMAN 310 V M 2r3v D 310 1 1 Hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) KIME_HUMAN 377 V I 2r3v D 377 0 0 Hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) KIT_HUMAN 816 D V 1pkg A 210 17.5 17.5 Mast cell leukemia KIT_HUMAN 816 D Y 1pkg A 210 17.5 17.5 Acute myeloid leukemia KIT_HUMAN 583 E K 3g0e A 42 24 24 Piebaldism KIT_HUMAN 584 F C 1pkg B 36 5.3 5.3 Piebaldism KIT_HUMAN 584 F L 1pkg B 36 5.3 5.3 Piebaldism KIT_HUMAN 601 G R 3g0f A 60 0.3 0.3 Piebaldism KIT_HUMAN 664 G R 1pkg B 116 52.3 12.5 Piebaldism KIT_HUMAN 812 G V 1pkg A 206 4.1 4.1 Piebaldism KIT_HUMAN 656 L P 1t46 A 92 0.5 0.5 Piebaldism KIT_HUMAN 791 R G 1pkg A 185 6 6 Piebaldism KIT_HUMAN 796 R G 1t45 A 192 2.3 2.3 Piebaldism KIT_HUMAN 804 R W 1t45 A 200 11.1 11.1 A colorectal adenocarcinoma sample KIT_HUMAN 847 T P 1t45 A 243 10.3 10.3 Piebaldism KIT_HUMAN 550 K I 1t45 A 4 65.1 65.1 Gastrointestinal stromal tumor (GIST) KIT_HUMAN 559 V A 1t45 A 13 2.2 2.2 Gastrointestinal stromal tumor (GIST) KIT_HUMAN 559 V D 1t45 A 13 2.2 2.2 Gastrointestinal stromal tumor (GIST) KKCC2_HUMAN 182 A T 2zv2 A 32 0.2 0.2 A colorectal adenocarcinoma sample KLKB1_HUMAN 548 C Y 2anw A 158 0 0 Prekallikrein deficiency (PKK deficiency) KPCA_HUMAN 98 P S 2eli A 14 64.4 64.4 A colorectal adenocarcinoma sample KPCA_HUMAN 467 D N 3iw4 A 149 63.9 63.9 A glioblastoma multiforme sample KPCB_HUMAN 496 V M 2i0e A 176 46.4 46.4 A glioblastoma multiforme sample KPCG_HUMAN 101 H Y 2e73 A 73 88.3 88.3 Spinocerebellar ataxia type 14 (SCA14) KPCT_HUMAN 240 K N 2enz A 21 91.5 91.5 A colorectal adenocarcinoma sample KPYR_HUMAN 115 A P 2vgb A 69 0 0 Pyruvate kinase deficiency of red cells (PKRD) KPYR_HUMAN 154 A T 2vgb A 108 0 0 Pyruvate kinase deficiency of red cells (PKRD) KPYR_HUMAN 295 A V 2vgi D 249 50.5 50.5 Pyruvate kinase deficiency of red cells (PKRD) KPYR_HUMAN 336 A S 2vgb B 290 3.9 3.9 Pyruvate kinase deficiency of red cells (PKRD) KPYR_HUMAN 352 A D 2vgf A 306 7.2 0 Pyruvate kinase deficiency of red cells (PKRD) KPYR_HUMAN 392 A T 2vgb A 346 21.4 0 Pyruvate kinase deficiency of red cells (PKRD) KPYR_HUMAN 394 A D 2vgb A 348 0 0 Pyruvate kinase deficiency of red cells (PKRD) KPYR_HUMAN 394 A V 2vgb A 348 0 0 Pyruvate kinase deficiency of red cells (PKRD) KPYR_HUMAN 431 A T 2vgg B 385 8.3 1.2 Pyruvate kinase deficiency of red cells (PKRD) KPYR_HUMAN 459 A V 2vgb A 413 0 0 Pyruvate kinase deficiency of red cells (PKRD) KPYR_HUMAN 468 A G 2vgb C 422 6.5 6.4 Pyruvate kinase deficiency of red cells (PKRD) KPYR_HUMAN 468 A V 2vgb C 422 6.5 6.4 Pyruvate kinase deficiency of red cells (PKRD) KPYR_HUMAN 495 A T 2vgf D 449 0 0 Pyruvate kinase deficiency of red cells (PKRD) KPYR_HUMAN 495 A V 2vgf D 449 0 0 Pyruvate kinase deficiency of red cells (PKRD) KPYR_HUMAN 281 D N 2vgf D 235 0.1 0.1 Pyruvate kinase deficiency of red cells (PKRD) KPYR_HUMAN 293 D N 2vgf C 247 12.3 12.3 Pyruvate kinase deficiency of red cells (PKRD) KPYR_HUMAN 331 D E 2vgi C 285 25.9 25.9 Pyruvate kinase deficiency of red cells (PKRD) KPYR_HUMAN 331 D N 2vgi C 285 25.9 25.9 Pyruvate kinase deficiency of red cells (PKRD) KPYR_HUMAN 339 D H 2vgb C 293 23.8 23.8 Pyruvate kinase deficiency of red cells (PKRD) KPYR_HUMAN 390 D N 2vgg B 344 23.2 0.2 Pyruvate kinase deficiency of red cells (PKRD) KPYR_HUMAN 172 E Q 2vgi C 126 83 83 Pyruvate kinase deficiency of red cells (PKRD) KPYR_HUMAN 315 E K 2vgg D 269 2.3 2.3 Pyruvate kinase deficiency of red cells (PKRD) KPYR_HUMAN 387 E G 2vgi B 341 12 1.5 Pyruvate kinase deficiency of red cells (PKRD) KPYR_HUMAN 427 E A 2vgg C 381 48.7 3.7 Pyruvate kinase deficiency of red cells (PKRD) KPYR_HUMAN 427 E D 2vgg C 381 48.7 3.7 Pyruvate kinase deficiency of red cells (PKRD) KPYR_HUMAN 287 F V 2vgf B 241 9.5 9.5 Pyruvate kinase deficiency of red cells (PKRD) KPYR_HUMAN 111 G R 2vgf C 65 12.3 12.3 Pyruvate kinase deficiency of red cells (PKRD) KPYR_HUMAN 159 G V 2vgg A 113 4.4 4.4 Pyruvate kinase deficiency of red cells (PKRD) KPYR_HUMAN 165 G V 2vgi C 119 4.4 4.4 Pyruvate kinase deficiency of red cells (PKRD) KPYR_HUMAN 222 G A 2vgg A 176 22.3 3.3 Pyruvate kinase deficiency of red cells (PKRD) KPYR_HUMAN 263 G R 2vgb B 217 23 23 Pyruvate kinase deficiency of red cells (PKRD) KPYR_HUMAN 263 G W 2vgb B 217 23 23 Pyruvate kinase deficiency of red cells (PKRD) KPYR_HUMAN 275 G R 2vgf B 229 0.1 0.1 Pyruvate kinase deficiency of red cells (PKRD) KPYR_HUMAN 332 G S 2vgb A 286 0 0 Pyruvate kinase deficiency of red cells (PKRD) KPYR_HUMAN 341 G A 2vgi A 295 23.2 5.4 Pyruvate kinase deficiency of red cells (PKRD) KPYR_HUMAN 341 G D 2vgi A 295 23.2 5.4 Pyruvate kinase deficiency of red cells (PKRD) KPYR_HUMAN 358 G E 2vgb A 312 44.1 0.3 Pyruvate kinase deficiency of red cells (PKRD) KPYR_HUMAN 364 G D 2vgb B 318 15.2 15.2 Pyruvate kinase deficiency of red cells (PKRD) KPYR_HUMAN 458 G D 2vgb A 412 38.1 0 Pyruvate kinase deficiency of red cells (PKRD) KPYR_HUMAN 511 G R 2vgf C 465 10.2 10.2 Pyruvate kinase deficiency of red cells (PKRD) KPYR_HUMAN 557 G A 2vgg D 511 21.5 21.5 Pyruvate kinase deficiency of red cells (PKRD) KPYR_HUMAN 95 G R 2vgf A 49 2.6 2.6 Pyruvate kinase deficiency of red cells (PKRD) KPYR_HUMAN 153 I T 2vgf D 107 1.7 1.7 Pyruvate kinase deficiency of red cells (PKRD) KPYR_HUMAN 219 I T 2vgi C 173 0 0 Pyruvate kinase deficiency of red cells (PKRD) KPYR_HUMAN 310 I N 2vgi D 264 0 0 Pyruvate kinase deficiency of red cells (PKRD) KPYR_HUMAN 314 I T 2vgb A 268 0 0 Pyruvate kinase deficiency of red cells (PKRD) KPYR_HUMAN 342 I F 2vgb A 296 10.4 6.8 Pyruvate kinase deficiency of red cells (PKRD) KPYR_HUMAN 357 I T 2vgb D 311 0.1 0.1 Pyruvate kinase deficiency of red cells (PKRD) KPYR_HUMAN 90 I N 2vgb A 44 0 0 Pyruvate kinase deficiency of red cells (PKRD) KPYR_HUMAN 348 K N 2vgg A 302 49.3 4.2 Pyruvate kinase deficiency of red cells (PKRD) KPYR_HUMAN 155 L P 2vgf B 109 0 0 Pyruvate kinase deficiency of red cells (PKRD) KPYR_HUMAN 272 L V 2vgi D 226 0.1 0.1 Pyruvate kinase deficiency of red cells (PKRD) KPYR_HUMAN 374 L P 2vgb A 328 0 0 Pyruvate kinase deficiency of red cells (PKRD) KPYR_HUMAN 73 L P 2vgi C 27 44 5.3 Pyruvate kinase deficiency of red cells (PKRD) KPYR_HUMAN 107 M T 2vgb A 61 0 0 Pyruvate kinase deficiency of red cells (PKRD) KPYR_HUMAN 361 N D 2vgb A 315 11.4 5.1 Pyruvate kinase deficiency of red cells (PKRD) KPYR_HUMAN 393 N K 2vgb B 347 48.6 4 Pyruvate kinase deficiency of red cells (PKRD) KPYR_HUMAN 393 N S 2vgb B 347 48.6 4 Pyruvate kinase deficiency of red cells (PKRD) KPYR_HUMAN 566 N K 2vgf C 520 42.7 2.2 Pyruvate kinase deficiency of red cells (PKRD) KPYR_HUMAN 421 Q K 2vgb A 375 0 0 Pyruvate kinase deficiency of red cells (PKRD) KPYR_HUMAN 163 R C 2vgg C 117 11 11 Pyruvate kinase deficiency of red cells (PKRD) KPYR_HUMAN 163 R L 2vgg C 117 11 11 Pyruvate kinase deficiency of red cells (PKRD) KPYR_HUMAN 337 R P 2vgb D 291 16.5 0.5 Pyruvate kinase deficiency of red cells (PKRD) KPYR_HUMAN 337 R Q 2vgb D 291 16.5 0.5 Pyruvate kinase deficiency of red cells (PKRD) KPYR_HUMAN 359 R C 2vgb B 313 37.9 21.8 Pyruvate kinase deficiency of red cells (PKRD) KPYR_HUMAN 359 R H 2vgb B 313 37.9 21.8 Pyruvate kinase deficiency of red cells (PKRD) KPYR_HUMAN 385 R W 2vgf B 339 84.5 6.3 Pyruvate kinase deficiency of red cells (PKRD) KPYR_HUMAN 426 R Q 2vgg C 380 29.5 29.5 Pyruvate kinase deficiency of red cells (PKRD) KPYR_HUMAN 426 R W 2vgg C 380 29.5 29.5 Pyruvate kinase deficiency of red cells (PKRD) KPYR_HUMAN 479 R H 2vgg C 433 53.2 53.2 Pyruvate kinase deficiency of red cells (PKRD) KPYR_HUMAN 486 R W 2vgf C 440 11.4 11.4 Pyruvate kinase deficiency of red cells (PKRD) KPYR_HUMAN 488 R Q 2vgf C 442 6.7 6.7 Pyruvate kinase deficiency of red cells (PKRD) KPYR_HUMAN 490 R W 2vgb C 444 25.9 25.9 Pyruvate kinase deficiency of red cells (PKRD) KPYR_HUMAN 498 R C 2vgi C 452 34.8 34.8 Pyruvate kinase deficiency of red cells (PKRD) KPYR_HUMAN 498 R H 2vgi C 452 34.8 34.8 Pyruvate kinase deficiency of red cells (PKRD) KPYR_HUMAN 504 R L 2vgi C 458 21.7 21.7 Pyruvate kinase deficiency of red cells (PKRD) KPYR_HUMAN 510 R Q 2vgb C 464 6.2 6.2 Pyruvate kinase deficiency of red cells (PKRD) KPYR_HUMAN 531 R C 2vgi D 485 54.6 54.6 Pyruvate kinase deficiency of red cells (PKRD) KPYR_HUMAN 532 R Q 2vgi A 486 12.8 12.8 Pyruvate kinase deficiency of red cells (PKRD) KPYR_HUMAN 532 R W 2vgi A 486 12.8 12.8 Pyruvate kinase deficiency of red cells (PKRD) KPYR_HUMAN 559 R G 2vgi A 513 40.3 40.3 Pyruvate kinase deficiency of red cells (PKRD) KPYR_HUMAN 569 R Q 2vgb C 523 33.4 17.9 Pyruvate kinase deficiency of red cells (PKRD) KPYR_HUMAN 86 R P 2vgb A 40 9.2 9.2 Pyruvate kinase deficiency of red cells (PKRD) KPYR_HUMAN 120 S F 2vgf B 74 3.5 3.5 Pyruvate kinase deficiency of red cells (PKRD) KPYR_HUMAN 130 S Y 2vgg A 84 0.6 0.6 Pyruvate kinase deficiency of red cells (PKRD) KPYR_HUMAN 376 S I 2vgf A 330 18.5 13.9 Pyruvate kinase deficiency of red cells (PKRD) KPYR_HUMAN 485 S F 2vgf C 439 3.2 3.2 Pyruvate kinase deficiency of red cells (PKRD) KPYR_HUMAN 80 S P 2vgi D 34 2.2 1 Pyruvate kinase deficiency of red cells (PKRD) KPYR_HUMAN 384 T M 2vgg B 338 35.7 9.3 Pyruvate kinase deficiency of red cells (PKRD) KPYR_HUMAN 408 T A 2vgb A 362 0 0 Pyruvate kinase deficiency of red cells (PKRD) KPYR_HUMAN 408 T I 2vgb A 362 0 0 Pyruvate kinase deficiency of red cells (PKRD) KPYR_HUMAN 477 T A 2vgg D 431 50.4 50.4 Pyruvate kinase deficiency of red cells (PKRD) KPYR_HUMAN 134 V D 2vgb A 88 0.5 0.5 Pyruvate kinase deficiency of red cells (PKRD) KPYR_HUMAN 288 V L 2vgf D 242 0.4 0.4 Pyruvate kinase deficiency of red cells (PKRD) KPYR_HUMAN 320 V L 2vgg B 274 12.8 1.8 Pyruvate kinase deficiency of red cells (PKRD) KPYR_HUMAN 335 V M 2vgb A 289 0 0 Pyruvate kinase deficiency of red cells (PKRD) KPYR_HUMAN 368 V F 2vgb A 322 0 0 Pyruvate kinase deficiency of red cells (PKRD) KPYR_HUMAN 460 V M 2vgb A 414 0 0 Pyruvate kinase deficiency of red cells (PKRD) KPYR_HUMAN 552 V M 2vgb A 506 0 0 Pyruvate kinase deficiency of red cells (PKRD) KS6B1_HUMAN 289 G E 3a62 A 217 51.4 51.4 A colorectal cancer sample KYNU_HUMAN 198 T A 3e9k A 198 20.3 20.3 Hydroxykynureninuria LCK_HUMAN 28 V L 1q69 B 22 58.9 24.6 Leukemia LCK_HUMAN 353 A V 1qpd A 123 11.9 11.9 Leukemia LCK_HUMAN 447 P L 2pl0 A 227 60.8 13.2 Leukemia LDLR_HUMAN 197 C R 2lgp A 56 16.9 16.9 Familial hypercholesterolemia (FH) LDLR_HUMAN 231 C G 1ajj A 36 28 28 Familial hypercholesterolemia (FH) LDLR_HUMAN 221 D N 1n7d A 200 24.9 24.9 Familial hypercholesterolemia (FH) LDLR_HUMAN 221 D Y 1n7d A 200 24.9 24.9 Familial hypercholesterolemia (FH) LDLR_HUMAN 224 D V 2lgp A 83 46.6 46.6 Familial hypercholesterolemia (FH) LDLR_HUMAN 248 C Y 1d2j A 16 21.3 21.3 Familial hypercholesterolemia (FH) LDLR_HUMAN 261 C F 1f8z A 28 2.1 2.1 Familial hypercholesterolemia (FH) LDLR_HUMAN 50 A S 1f5y A 31 37.9 37.9 Familial hypercholesterolemia (FH) LDLR_HUMAN 46 C S 1f5y A 27 11.1 11.1 Familial hypercholesterolemia (FH) LDLR_HUMAN 89 C Y 1n7d A 68 21.4 21.4 Familial hypercholesterolemia (FH) LDLR_HUMAN 95 C G 1f5y A 76 0.3 0.3 Familial hypercholesterolemia (FH) LDLR_HUMAN 90 D N 1n7d A 69 38.8 38.8 Familial hypercholesterolemia (FH) LDLR_HUMAN 92 Q E 1n7d A 71 23.7 23.7 Familial hypercholesterolemia (FH) LDLR_HUMAN 78 R C 1f5y A 59 28.2 28.2 Familial hypercholesterolemia (FH) LDLR_HUMAN 56 S P 1f5y A 37 6.5 6.5 Familial hypercholesterolemia (FH) LDLR_HUMAN 329 C Y 2w2p E 43 15 0 Familial hypercholesterolemia (FH) LDLR_HUMAN 338 C S 1hj7 A 25 0.3 0.3 Familial hypercholesterolemia (FH) LDLR_HUMAN 368 C R 1i0u A 55 9.2 9.2 Familial hypercholesterolemia (FH) LDLR_HUMAN 379 C Y 1hj7 A 66 7.7 7.7 Familial hypercholesterolemia (FH) LDLR_HUMAN 342 D N 1i0u A 29 41.7 41.7 Familial hypercholesterolemia (FH) LDLR_HUMAN 356 D Y 1i0u A 43 26.1 26.1 Familial hypercholesterolemia (FH) LDLR_HUMAN 327 H Y 2w2q E 41 43.1 34.3 Familial hypercholesterolemia (FH) LDLR_HUMAN 366 Q R 1hz8 A 53 9 9 Familial hypercholesterolemia (FH) LDLR_HUMAN 350 R P 2w2q E 64 36.1 36.1 Familial hypercholesterolemia (FH) LDLR_HUMAN 399 A D 1ijq A 2 10.4 10.4 Familial hypercholesterolemia (FH) LDLR_HUMAN 482 D H 1ijq A 85 0 0 Familial hypercholesterolemia (FH) LDLR_HUMAN 700 D E 1ijq A 303 57.1 57.1 Familial hypercholesterolemia (FH) LDLR_HUMAN 403 F L 1ijq A 6 1.6 1.6 Familial hypercholesterolemia (FH) LDLR_HUMAN 423 I T 1ijq A 26 1.6 1.6 Familial hypercholesterolemia (FH) LDLR_HUMAN 401 L V 1ijq A 4 0 0 Familial hypercholesterolemia (FH) LDLR_HUMAN 414 L R 1n7d A 393 21.1 21.1 Familial hypercholesterolemia (FH) LDLR_HUMAN 432 L V 1ijq A 35 1 1 Familial hypercholesterolemia (FH) LDLR_HUMAN 568 L V 1n7d A 547 15.1 15.1 Familial hypercholesterolemia (FH) LDLR_HUMAN 564 N H 1n7d A 543 3.2 3.2 Familial hypercholesterolemia (FH) LDLR_HUMAN 608 P S 1ijq A 211 0 0 Familial hypercholesterolemia (FH) LDLR_HUMAN 649 P L 1ijq A 252 0.1 0.1 Familial hypercholesterolemia (FH) LDLR_HUMAN 416 R Q 1ijq A 19 44.1 44.1 Familial hypercholesterolemia (FH) LDLR_HUMAN 416 R W 1ijq A 19 44.1 44.1 Familial hypercholesterolemia (FH) LDLR_HUMAN 633 R C 1n7d A 612 16.2 16.2 Familial hypercholesterolemia (FH) LDLR_HUMAN 483 W R 1n7d A 462 19.3 19.3 Familial hypercholesterolemia (FH) LDLR_HUMAN 116 C R 2fcw B 10 0 0 Familial hypercholesterolemia (FH) LDLR_HUMAN 160 C Y 2kri B 14 13.3 13.3 Familial hypercholesterolemia (FH) LDLR_HUMAN 173 C W 2kri B 27 5.2 0.2 Familial hypercholesterolemia (FH) LDLR_HUMAN 184 C Y 2lgp A 43 16.6 16.6 Familial hypercholesterolemia (FH) LDLR_HUMAN 276 C Y 1xfe A 6 30.9 30.9 Familial hypercholesterolemia (FH) LDLR_HUMAN 302 C W 1n7d A 281 8.8 8.8 Familial hypercholesterolemia (FH) LDLR_HUMAN 302 C Y 1n7d A 281 8.8 8.8 Familial hypercholesterolemia (FH) LDLR_HUMAN 313 C Y 1n7d A 292 10.8 10.8 Familial hypercholesterolemia (FH) LDLR_HUMAN 168 D N 2kri B 22 40.7 0.7 Familial hypercholesterolemia (FH) LDLR_HUMAN 168 D Y 2kri B 22 40.7 0.7 Familial hypercholesterolemia (FH) LDLR_HUMAN 175 D Y 2fcw B 69 40 39.3 Familial hypercholesterolemia (FH) LDLR_HUMAN 301 D A 1xfe A 31 21.3 21.3 Familial hypercholesterolemia (FH) LDLR_HUMAN 277 E K 1n7d A 256 39 39 Familial hypercholesterolemia (FH) LDLR_HUMAN 288 E K 1xfe A 18 52.3 52.3 Familial hypercholesterolemia (FH) LDLR_HUMAN 714 E K 1n7d A 693 123.9 123.9 Familial hypercholesterolemia (FH) LEG2_HUMAN 132 E Q 1hlc B 129 106 106 A breast cancer sample LIFR_HUMAN 279 S P 3e0g A 228 32.9 32.9 Stueve-Wiedemann syndrome (SWS) LIPR1_HUMAN 129 S C 2ppl A 137 3.9 3.9 A breast cancer sample LMNA_HUMAN 529 A V 3gef A 95 1.1 1.1 Mandibuloacral dysplasia with type A lipodystrophy (MADA) LMNA_HUMAN 446 D V 1ifr A 15 13.3 13.3 Emery-Dreifuss muscular dystrophy type 2 (EDMD2) LMNA_HUMAN 465 G D 1ivt A 38 7.2 7.2 Familial partial lipodystrophy type 2 (FPLD2) LMNA_HUMAN 486 K N 1ifr A 55 81.1 81.1 Familial partial lipodystrophy type 2 (FPLD2) LMNA_HUMAN 542 K N 1ivt A 115 25.6 25.6 Hutchinson-Gilford progeria syndrome (HGPS) LMNA_HUMAN 530 L P 1ifr A 99 0 0 Emery-Dreifuss muscular dystrophy type 2 (EDMD2) LMNA_HUMAN 456 N I 1ifr A 25 0 0 Emery-Dreifuss muscular dystrophy type 2 (EDMD2) LMNA_HUMAN 435 R C 1ifr A 4 31.8 31.8 Cardiomyopathy dilated type 1A (CMD1A) LMNA_HUMAN 453 R W 1ifr A 22 25.1 25.1 Emery-Dreifuss muscular dystrophy type 2 (EDMD2) LMNA_HUMAN 471 R C 1ifr A 40 0.2 0.2 Hutchinson-Gilford progeria syndrome (HGPS) LMNA_HUMAN 482 R L 3gef A 48 57.5 57.5 Familial partial lipodystrophy type 2 (FPLD2) LMNA_HUMAN 482 R Q 3gef A 48 57.5 57.5 Familial partial lipodystrophy type 2 (FPLD2) LMNA_HUMAN 482 R W 3gef A 48 57.5 57.5 Familial partial lipodystrophy type 2 (FPLD2) LMNA_HUMAN 527 R C 3gef A 93 33.3 33.3 Hutchinson-Gilford progeria syndrome (HGPS) LMNA_HUMAN 527 R H 3gef A 93 33.3 33.3 Mandibuloacral dysplasia with type A lipodystrophy (MADA) LMNA_HUMAN 527 R P 3gef A 93 33.3 33.3 Emery-Dreifuss muscular dystrophy type 2 (EDMD2) LMNA_HUMAN 541 R H 1ivt A 114 0.6 0.6 Emery-Dreifuss muscular dystrophy type 2 (EDMD2) LMNA_HUMAN 541 R S 1ivt A 114 0.6 0.6 Cardiomyopathy dilated type 1A (CMD1A) LMNA_HUMAN 528 T R 1ifr A 97 0 0 Emery-Dreifuss muscular dystrophy type 2 (EDMD2) LMNA_HUMAN 481 Y H 3gef A 47 3.2 3.2 Limb-girdle muscular dystrophy type 1B (LGMD1B) LMNA_HUMAN 317 E K 1x8y A 16 55.7 48.3 Cardiomyopathy dilated type 1A (CMD1A) LMNA_HUMAN 349 R L 2xv5 B 25 61.6 43.9 Cardiomyopathy dilated type 1A (CMD1A) LMNA_HUMAN 377 R H 1x8y A 76 52.9 45.2 Limb-girdle muscular dystrophy type 1B (LGMD1B) LMNA_HUMAN 377 R L 1x8y A 76 52.9 45.2 Limb-girdle muscular dystrophy type 1B (LGMD1B) LYN_HUMAN 385 D Y 3a4o X 153 36.7 36.7 A breast pleomorphic lobular carcinoma sample LYSC_HUMAN 85 D H 1ip3 A 67 17.2 17.2 Amyloidosis type 8 (AMYL8) LYSC_HUMAN 74 I T 1i20 A 56 0 0 Amyloidosis type 8 (AMYL8) M3K2_HUMAN 112 M I 2npt B 89 16 13 A lung large cell carcinoma sample M3K9_HUMAN 246 A V 3dtc A 111 0 0 A metastatic melanoma sample MAGA4_HUMAN 153 G D 2wa0 A 76 28.1 28.1 A breast cancer sample MARK1_HUMAN 355 N T 2hak E 312 61.2 61.2 An ovarian serous carcinoma sample MARK1_HUMAN 233 Y C 2hak F 190 9.8 9.8 A gastric adenocarcinoma sample MCFD2_HUMAN 129 D E 2vrg A 107 5.2 5.2 Factor V and factor VIII combined deficiency (F5F8D) MCFD2_HUMAN 136 I T 2vrg A 114 0 0 Factor V and factor VIII combined deficiency (F5F8D) MCPH1_HUMAN 27 T R 3pa6 A 29 54.2 28.6 Microcephaly primary type 1 (MCPH1) MCR_HUMAN 972 E G 1y9r A 243 42.7 42.7 Autosomal dominant pseudohypoaldosteronism type I (PHA1) MCR_HUMAN 769 L P 1y9r A 40 10.7 10.7 Autosomal dominant pseudohypoaldosteronism type I (PHA1) MCR_HUMAN 924 L P 2aa2 A 215 0 0 Autosomal dominant pseudohypoaldosteronism type I (PHA1) MCR_HUMAN 979 L P 2a3i A 248 10.2 10.2 Autosomal dominant pseudohypoaldosteronism type I (PHA1) MCR_HUMAN 770 N K 3vhv A 46 12.7 12.7 Autosomal dominant pseudohypoaldosteronism type I (PHA1) MCR_HUMAN 759 P S 3vhv A 35 63.1 63.1 Autosomal dominant pseudohypoaldosteronism type I (PHA1) MCR_HUMAN 776 Q R 1y9r A 47 6.5 6.5 Autosomal dominant pseudohypoaldosteronism type I (PHA1) MCR_HUMAN 805 S P 2oax A 77 0.1 0.1 Autosomal dominant pseudohypoaldosteronism type I (PHA1) MCR_HUMAN 815 S R 2oax A 87 0 0 Autosomal dominant pseudohypoaldosteronism type I (PHA1) MCR_HUMAN 818 S L 1y9r A 89 0 0 Autosomal dominant pseudohypoaldosteronism type I (PHA1) MD1L1_HUMAN 516 E K 1go4 F 32 32.8 25.8 A breast cancer cell line MD1L1_HUMAN 569 E K 1go4 E 85 51.6 29.5 A breast cancer cell line MD1L1_HUMAN 556 R C 1go4 G 72 65.5 59.3 A prostate cancer cell line MD1L1_HUMAN 556 R H 1go4 G 72 65.5 59.3 One individual with lung cancer MD1L1_HUMAN 558 R H 1go4 F 74 56.6 56.6 A cancer cell line MD1L1_HUMAN 572 R H 1go4 F 88 71.4 8.7 A cancer cell line MECP2_HUMAN 140 A V 1qk9 A 64 37.2 37.2 Mental retardation syndromic X-linked type 13 (MRXS13) MECP2_HUMAN 156 D G 3c2i A 80 6 6 Rett syndrome (RTT) MECP2_HUMAN 97 D E 1qk9 A 21 7.4 7.4 Rett syndrome (RTT) MECP2_HUMAN 97 D Y 1qk9 A 21 7.4 7.4 Rett syndrome (RTT) MECP2_HUMAN 137 E G 3c2i A 61 27 22.8 Mental retardation syndromic X-linked type 13 (MRXS13) MECP2_HUMAN 155 F I 3c2i A 79 5 5 Rett syndrome (RTT) MECP2_HUMAN 155 F S 3c2i A 79 5 5 Rett syndrome (RTT) MECP2_HUMAN 161 G V 3c2i A 85 24 24 Rett syndrome (RTT) MECP2_HUMAN 135 K E 1qk9 A 59 32.8 32.8 Rett syndrome (RTT) MECP2_HUMAN 100 L R 3c2i A 24 10.8 10.8 Rett syndrome (RTT) MECP2_HUMAN 100 L V 3c2i A 24 10.8 10.8 Rett syndrome (RTT) MECP2_HUMAN 124 L F 3c2i A 48 0 0 Rett syndrome (RTT) MECP2_HUMAN 101 P H 3c2i A 25 23 23 Rett syndrome (RTT) MECP2_HUMAN 101 P L 3c2i A 25 23 23 Rett syndrome (RTT) MECP2_HUMAN 101 P R 3c2i A 25 23 23 Rett syndrome (RTT) MECP2_HUMAN 101 P S 3c2i A 25 23 23 Rett syndrome (RTT) MECP2_HUMAN 101 P T 3c2i A 25 23 23 Rett syndrome (RTT) MECP2_HUMAN 152 P R 1qk9 A 76 18.3 18.3 Rett syndrome (RTT) MECP2_HUMAN 128 Q P 3c2i A 52 80.5 80.5 Rett syndrome (RTT) MECP2_HUMAN 106 R Q 3c2i A 30 2.6 2.6 Rett syndrome (RTT) MECP2_HUMAN 106 R W 3c2i A 30 2.6 2.6 Rett syndrome (RTT) MECP2_HUMAN 111 R G 3c2i A 35 44.5 4 Rett syndrome (RTT) MECP2_HUMAN 133 R C 3c2i A 57 68.3 20.4 Rett syndrome (RTT) MECP2_HUMAN 133 R H 3c2i A 57 68.3 20.4 Rett syndrome (RTT) MECP2_HUMAN 134 S C 3c2i A 58 34.3 2.2 Rett syndrome (RTT) MECP2_HUMAN 158 T A 3c2i A 82 41.1 20.3 Rett syndrome (RTT) MECP2_HUMAN 158 T M 3c2i A 82 41.1 20.3 Rett syndrome (RTT) MECP2_HUMAN 120 Y D 1qk9 A 44 20.2 20.2 Rett syndrome (RTT) MEFV_HUMAN 744 A S 2wl1 A 159 65.9 65.9 Familial Mediterranean fever autosomal recessive (ARFMF) MEFV_HUMAN 661 D N 2wl1 A 76 82.7 82.7 Familial Mediterranean fever autosomal recessive (ARFMF) MEFV_HUMAN 656 E A 2wl1 A 71 1.4 1.4 Familial Mediterranean fever autosomal recessive (ARFMF) MEFV_HUMAN 743 F L 2wl1 A 158 7.1 7.1 Familial Mediterranean fever autosomal recessive (ARFMF) MEFV_HUMAN 632 G S 2wl1 A 47 26.8 26.8 Familial Mediterranean fever autosomal recessive (ARFMF) MEFV_HUMAN 678 G E 2wl1 A 93 19.2 19.2 Familial Mediterranean fever autosomal recessive (ARFMF) MEFV_HUMAN 591 I T 2wl1 A 6 83.9 83.9 Familial Mediterranean fever autosomal recessive (ARFMF) MEFV_HUMAN 640 I M 2wl1 A 55 21.5 21.5 Familial Mediterranean fever autosomal recessive (ARFMF) MEFV_HUMAN 641 I F 2wl1 A 56 0.1 0.1 Familial Mediterranean fever autosomal recessive (ARFMF) MEFV_HUMAN 720 I M 2wl1 A 135 0 0 Familial Mediterranean fever autosomal recessive (ARFMF) MEFV_HUMAN 695 K M 2wl1 A 110 51.3 51.3 Familial Mediterranean fever autosomal recessive (ARFMF) MEFV_HUMAN 695 K R 2wl1 A 110 51.3 51.3 Familial Mediterranean fever autosomal recessive (ARFMF) MEFV_HUMAN 649 L P 2wl1 A 64 59.9 59.9 Familial Mediterranean fever autosomal recessive (ARFMF) MEFV_HUMAN 680 M I 2wl1 A 95 27.6 27.6 Familial Mediterranean fever autosomal dominant (ADFMF) MEFV_HUMAN 680 M L 2wl1 A 95 27.6 27.6 Familial Mediterranean fever autosomal recessive (ARFMF) MEFV_HUMAN 694 M I 2wl1 A 109 41.6 41.6 Familial Mediterranean fever autosomal dominant (ADFMF) MEFV_HUMAN 694 M L 2wl1 A 109 41.6 41.6 Familial Mediterranean fever autosomal recessive (ARFMF) MEFV_HUMAN 694 M V 2wl1 A 109 41.6 41.6 Familial Mediterranean fever autosomal dominant (ADFMF) MEFV_HUMAN 646 P L 2wl1 A 61 39.5 39.5 Familial Mediterranean fever autosomal recessive (ARFMF) MEFV_HUMAN 705 P S 2wl1 A 120 82.1 82.1 Familial Mediterranean fever autosomal recessive (ARFMF) MEFV_HUMAN 758 P S 2wl1 A 173 1 1 Familial Mediterranean fever autosomal recessive (ARFMF) MEFV_HUMAN 653 R H 2wl1 A 68 23.6 23.6 Familial Mediterranean fever autosomal recessive (ARFMF) MEFV_HUMAN 761 R H 2wl1 A 176 25.2 25.2 Familial Mediterranean fever autosomal recessive (ARFMF) MEFV_HUMAN 675 S N 2wl1 A 90 33.5 33.5 Familial Mediterranean fever autosomal recessive (ARFMF) MEFV_HUMAN 681 T I 2wl1 A 96 55.9 55.9 Familial Mediterranean fever autosomal recessive (ARFMF) MEFV_HUMAN 704 V I 2wl1 A 119 67.8 67.8 Familial Mediterranean fever autosomal recessive (ARFMF) MEFV_HUMAN 726 V A 2wl1 A 141 55 55 Familial Mediterranean fever autosomal recessive (ARFMF) MEFV_HUMAN 688 Y C 2wl1 A 103 0.5 0.5 Familial Mediterranean fever autosomal recessive (ARFMF) MERL_HUMAN 106 E G 3u8z A 94 53.9 53.9 Neurofibromatosis 2 (NF2) MERL_HUMAN 62 F S 1h4r A 63 7 7 Neurofibromatosis 2 (NF2) MERL_HUMAN 197 G C 3u8z C 185 73.7 21.3 Neurofibromatosis 2 (NF2) MERL_HUMAN 273 I F 1h4r A 274 0 0 Breast ductal carcinoma MERL_HUMAN 141 L P 3u8z A 129 0.7 0.7 Neurofibromatosis 2 (NF2) MERL_HUMAN 234 L R 3u8z C 222 0.1 0.1 Neurofibromatosis 2 (NF2) MERL_HUMAN 77 M V 3u8z A 65 26.2 20.9 Neurofibromatosis 2 (NF2) MERL_HUMAN 220 N Y 1h4r A 221 25.6 25.6 Neurofibromatosis 2 (NF2) MERTK_HUMAN 446 A G 2dbj A 81 5 5 A renal clear cell carcinoma sample MERTK_HUMAN 708 A S 2p0c A 157 0 0 A head & Neck squamous cell carcinoma sample MERTK_HUMAN 661 S C 3brb B 110 113.9 113.9 Retinitis pigmentosa (RP) MET_HUMAN 1228 D H 3i5n A 181 3.6 3.6 Hereditary papillary renal carcinoma (HPRC) MET_HUMAN 1228 D N 3i5n A 181 3.6 3.6 Hereditary papillary renal carcinoma (HPRC) MET_HUMAN 1094 H L 3cth A 48 15.2 15.2 Hereditary papillary renal carcinoma (HPRC) MET_HUMAN 1094 H R 3cth A 48 15.2 15.2 Hereditary papillary renal carcinoma (HPRC) MET_HUMAN 1094 H Y 3cth A 48 15.2 15.2 Hereditary papillary renal carcinoma (HPRC) MET_HUMAN 1106 H D 3c1x A 119 37.4 37.4 Hereditary papillary renal carcinoma (HPRC) MET_HUMAN 1244 K R 3rhk A 216 36.9 36.9 Hepatocellular carcinoma (HCC) MET_HUMAN 1195 L V 1r0p A 147 0 0 Hereditary papillary renal carcinoma (HPRC) MET_HUMAN 1131 M T 2g15 A 103 0.3 0.3 Hereditary papillary renal carcinoma (HPRC) MET_HUMAN 1250 M I 2g15 A 222 3.6 2.4 Hepatocellular carcinoma (HCC) MET_HUMAN 1250 M T 2g15 A 222 3.6 2.4 Hereditary papillary renal carcinoma (HPRC) MET_HUMAN 1173 T I 2g15 A 145 39.8 39.8 Hepatocellular carcinoma (HCC) MET_HUMAN 1092 V I 2g15 A 64 1.7 1.7 Hereditary papillary renal carcinoma (HPRC) MET_HUMAN 1188 V L 1r0p A 140 0 0 Hereditary papillary renal carcinoma (HPRC) MET_HUMAN 1220 V I 1r0p A 172 0 0 Hereditary papillary renal carcinoma (HPRC) MET_HUMAN 1230 Y C 3dkc A 185 1.7 1.7 Hereditary papillary renal carcinoma (HPRC) MET_HUMAN 1230 Y D 3dkc A 185 1.7 1.7 Hereditary papillary renal carcinoma (HPRC) MET_HUMAN 1230 Y H 3dkc A 185 1.7 1.7 Hereditary papillary renal carcinoma (HPRC) METH_HUMAN 1173 P L 2o2k A 250 4.5 4.5 Methylcobalamin deficiency type G (cblG) METK1_HUMAN 55 A D 2obv A 44 18.1 15.3 Hypermethioninemia METK1_HUMAN 344 E A 2obv A 333 46.7 46.7 Hypermethioninemia METK1_HUMAN 336 G R 2obv A 325 82.3 82.3 Hypermethioninemia METK1_HUMAN 378 G S 2obv A 367 0.6 0.6 Hypermethioninemia METK1_HUMAN 322 I M 2obv A 311 42.9 11.8 Hypermethioninemia METK1_HUMAN 305 L P 2obv A 294 0 0 Hypermethioninemia METK1_HUMAN 357 P L 2obv A 346 0 0 Hypermethioninemia METK1_HUMAN 199 R C 2obv A 188 16 16 Hypermethioninemia METK1_HUMAN 264 R C 2obv A 253 66.3 8.3 Hypermethioninemia METK1_HUMAN 264 R H 2obv A 253 66.3 8.3 Hypermethioninemia METK1_HUMAN 356 R Q 2obv A 345 19.5 19.5 Hypermethioninemia METK1_HUMAN 38 S N 2obv A 27 0 0 Hypermethioninemia MK08_HUMAN 171 G S 2g01 B 171 0 0 A renal clear cell carcinoma sample MK08_HUMAN 177 G R 2no3 B 177 5.3 5.3 A glioblastoma multiforme sample MK09_HUMAN 56 K N 3npc A 56 5.1 5.1 A head & Neck squamous cell carcinoma sample MK09_HUMAN 13 V M 3npc B 13 27.1 27.1 A colorectal adenocarcinoma sample MK11_HUMAN 221 A V 3gc9 A 227 16 16 A lung neuroendocrine carcinoma sample MK14_HUMAN 51 A V 3oef X 51 5.7 5.7 A gastric adenocarcinoma sample MK14_HUMAN 322 P R 3c5u A 328 88.4 50.6 A lung adenocarcinoma sample MMAA_HUMAN 89 L P 2www B 20 4.8 4.8 Methylmalonic aciduria type cblA (MMAA) MMAA_HUMAN 145 R Q 2www A 76 11.1 11.1 Methylmalonic aciduria type cblA (MMAA) MMAA_HUMAN 359 R G 2www A 290 4.6 4.6 Methylmalonic aciduria type cblA (MMAA) MMAA_HUMAN 359 R Q 2www A 290 4.6 4.6 Methylmalonic aciduria type cblA (MMAA) MMAA_HUMAN 207 Y C 2www B 138 9.5 9.5 Methylmalonic aciduria type cblA (MMAA) MMAB_HUMAN 193 E K 2idx C 139 19.2 3.5 Methylmalonic aciduria type cblB (MMAB) MMAB_HUMAN 96 I T 2idx A 42 0 0 Methylmalonic aciduria type cblB (MMAB) MMAB_HUMAN 191 R W 2idx C 137 28.5 1.3 Methylmalonic aciduria type cblB (MMAB) MMAB_HUMAN 135 A T 2idx C 81 29.3 29.3 Methylmalonic aciduria type cblB (MMAB) MMP10_HUMAN 142 E Q 1q3a A 44 73.5 73.5 A breast cancer sample MMP2_HUMAN 228 A T 1ck7 A 199 2.2 2.2 A colorectal cancer sample MMP2_HUMAN 404 E K 1eak B 373 0.3 0.3 Torg-Winchester syndrome MMP2_HUMAN 101 R H 1eak B 70 0.9 0.9 Torg-Winchester syndrome MMP2_HUMAN 644 S I 1gxd B 615 47.8 23.3 A colorectal cancer sample MMP2_HUMAN 498 T M 1gxd B 469 26.2 26.2 A colorectal cancer sample MP2K1_HUMAN 130 Y C 3eqg A 97 7.2 7.2 Cardiofaciocutaneous syndrome (CFC syndrome) MP2K1_HUMAN 53 F S 3eqi A 20 12.5 12.5 Cardiofaciocutaneous syndrome (CFC syndrome) MP2K7_HUMAN 162 R C 2dyl A 69 46.4 46.4 A colorectal adenocarcinoma sample MP2K7_HUMAN 162 R H 2dyl A 69 46.4 46.4 A colorectal adenocarcinoma sample MSH2_HUMAN 2 A T 2o8f A 2 46 18.5 Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) MSH2_HUMAN 305 A T 3thy A 305 6 6 Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) MSH2_HUMAN 45 A V 2o8b A 45 0 0 Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) MSH2_HUMAN 600 A V 2o8e A 600 1.4 1.4 Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) MSH2_HUMAN 636 A P 2o8e A 636 16.9 16.9 Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) MSH2_HUMAN 834 A T 2o8e A 834 65.5 0 Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) MSH2_HUMAN 199 C R 2o8b A 199 0 0 Glioma MSH2_HUMAN 333 C Y 3thw A 333 4.9 4.9 Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) MSH2_HUMAN 697 C F 2o8b A 697 0.4 0.4 Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) MSH2_HUMAN 697 C R 2o8b A 697 0.4 0.4 Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) MSH2_HUMAN 167 D H 3thy A 167 10.3 10.3 Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) MSH2_HUMAN 283 D Y 3thw A 283 74.5 74.5 Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) MSH2_HUMAN 603 D N 3thz A 603 1.2 1.2 Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) MSH2_HUMAN 660 D G 2o8f A 660 69.1 69.1 Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) MSH2_HUMAN 198 E G 2o8b A 198 0 0 Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) MSH2_HUMAN 562 E V 3thy A 562 39.3 39.3 Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) MSH2_HUMAN 647 E K 3thy A 647 78 78 Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) MSH2_HUMAN 749 E K 3thy A 749 15.1 15.1 Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) MSH2_HUMAN 853 E A 3thy A 853 55.5 7.5 Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) MSH2_HUMAN 162 G A 2o8b A 162 0 0 Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) MSH2_HUMAN 162 G R 2o8b A 162 0 0 Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) MSH2_HUMAN 164 G R 2o8b A 164 0 0 Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) MSH2_HUMAN 674 G S 2o8e A 674 26.4 26.4 Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) MSH2_HUMAN 692 G R 3thx A 692 0 0 Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) MSH2_HUMAN 46 H Q 2o8e A 46 0 0 Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) MSH2_HUMAN 639 H R 3thy A 639 3 3 Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) MSH2_HUMAN 639 H Y 3thy A 639 3 3 Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) MSH2_HUMAN 839 H R 3thy A 839 73.4 47 Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) MSH2_HUMAN 145 I M 3thy A 145 11.9 11.9 Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) MSH2_HUMAN 169 I V 3thy A 169 4.1 4.1 Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) MSH2_HUMAN 216 I V 2o8f A 216 5.1 5.1 Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) MSH2_HUMAN 679 I T 2o8b A 679 0 0 Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) MSH2_HUMAN 393 K M 3thy A 393 22.9 22.9 Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) MSH2_HUMAN 845 K E 3thz A 845 40.5 40.5 Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) MSH2_HUMAN 173 L P 3thw A 173 0 0 Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) MSH2_HUMAN 175 L P 3thw A 175 0 0 Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) MSH2_HUMAN 187 L P 2o8b A 187 0 0 Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) MSH2_HUMAN 390 L F 3thz A 390 0.7 0.7 Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) MSH2_HUMAN 93 L F 2o8b A 93 0.1 0.1 Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) MSH2_HUMAN 492 M V 3thx A 492 0.4 0.4 Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) MSH2_HUMAN 688 M I 2o8b A 688 0 0 Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) MSH2_HUMAN 729 M V 2o8b A 729 23.6 0 Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) MSH2_HUMAN 813 M V 2o8c A 813 15.3 15.3 Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) MSH2_HUMAN 127 N S 3thx A 127 7.6 7.6 Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) MSH2_HUMAN 139 N S 3thy A 139 20.3 20.3 Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) MSH2_HUMAN 583 N S 2o8b A 583 49.3 49.3 Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) MSH2_HUMAN 596 N S 3thx A 596 1.3 1.3 Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) MSH2_HUMAN 671 N Y 3thx A 671 61.9 21.7 Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) MSH2_HUMAN 336 P S 2o8e A 336 9.2 9.2 Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) MSH2_HUMAN 349 P L 2o8b A 349 0 0 Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) MSH2_HUMAN 622 P L 2o8e A 622 0 0 Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) MSH2_HUMAN 629 Q R 2o8e A 629 48.8 48.8 Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) MSH2_HUMAN 824 Q E 3thx A 824 51.6 51.6 Gastric cancer MSH2_HUMAN 359 R S 3thz A 359 6.1 6.1 Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) MSH2_HUMAN 524 R P 2o8b A 524 15.6 8.1 Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) MSH2_HUMAN 13 S I 3thx A 13 49.6 49.6 Colorectal cancer MSH2_HUMAN 323 S C 2o8d A 323 26.4 26.4 Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) MSH2_HUMAN 323 S Y 2o8d A 323 26.4 26.4 Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) MSH2_HUMAN 554 S R 3thy A 554 46.2 46.2 Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) MSH2_HUMAN 723 S F 3thz A 723 59.2 19.9 Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) MSH2_HUMAN 335 T I 3thx A 335 0.1 0.1 Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) MSH2_HUMAN 33 T P 2o8b A 33 3.3 3.3 Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) MSH2_HUMAN 44 T M 2o8b A 44 0.1 0.1 Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) MSH2_HUMAN 552 T P 2o8b A 552 6.7 6.7 Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) MSH2_HUMAN 564 T A 2o8d A 564 37.2 37.2 Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) MSH2_HUMAN 732 T I 2o8f A 732 3.4 1.2 Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) MSH2_HUMAN 102 V I 3thx A 102 0 0 Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) MSH2_HUMAN 161 V D 2o8b A 161 0 0 Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) MSH2_HUMAN 163 V D 3thw A 163 0 0 Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) MSH2_HUMAN 163 V G 3thw A 163 0 0 Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) MSH2_HUMAN 17 V F 3thx A 17 18.9 18.9 Gastric cancer MSH2_HUMAN 342 V I 2o8b A 342 0 0 Colorectal cancer MSH2_HUMAN 656 Y H 3thw A 656 30.1 30.1 Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) MSH2_HUMAN 98 Y C 2o8d A 98 13.4 13.4 Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) MSH2_HUMAN 246 K Q 3thz A 246 37.1 37.1 Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) MSH6_HUMAN 1163 E V 2o8e B 825 58.2 58.2 Hereditary non-polyposis colorectal cancer type 5 (HNPCC5) MSH6_HUMAN 1193 E K 2o8b B 855 1.7 1.7 Endometrial cancer MSH6_HUMAN 449 L P 2o8c B 111 9.8 1.8 Colorectal/endometrial cancer MSH6_HUMAN 492 M V 2o8d B 154 5.3 4.6 Hereditary non-polyposis colorectal cancer type 5 (HNPCC5) MSH6_HUMAN 772 R W 2o8f B 434 7 7 Hereditary non-polyposis colorectal cancer type 5 (HNPCC5) MSH6_HUMAN 901 R H 2o8b B 563 9.3 9.3 Colorectal/endometrial cancer MSH6_HUMAN 878 V A 2o8e B 540 17.9 17.9 Colorectal/endometrial cancer MST4_HUMAN 36 G W 3ggf A 37 27.4 27.4 A gastric adenocarcinoma sample MTG8_HUMAN 386 R W 1wq6 B 55 51.9 5 A colorectal cancer sample MTG8_HUMAN 395 R W 1wq6 B 64 52.4 37.8 A colorectal cancer sample MTMR2_HUMAN 283 R W 1zvr A 214 0.1 0.1 Charcot-Marie-Tooth disease type 4B1 (CMT4B1) MTRR_HUMAN 432 C R 2qtz A 246 2.1 2.1 Methylcobalamin deficiency type E (cblE) MTRR_HUMAN 514 G R 2qtl A 328 17 17 Methylcobalamin deficiency type E (cblE) MTRR_HUMAN 581 G R 2qtl A 395 0 0 Methylcobalamin deficiency type E (cblE) MUTA_HUMAN 137 A V 2xiq A 127 6.5 6.5 Methylmalonic aciduria type mut (MMAM) MUTA_HUMAN 191 A E 3bic A 181 0.9 0.9 Methylmalonic aciduria type mut (MMAM) MUTA_HUMAN 197 A E 2xij A 187 0 0 Methylmalonic aciduria type mut (MMAM) MUTA_HUMAN 324 A T 2xij A 314 0 0 Methylmalonic aciduria type mut (MMAM) MUTA_HUMAN 377 A E 2xij A 367 0 0 Methylmalonic aciduria type mut (MMAM) MUTA_HUMAN 535 A P 2xiq B 525 50.3 50.3 Methylmalonic aciduria type mut (MMAM) MUTA_HUMAN 560 C Y 2xij A 550 0.3 0.3 Methylmalonic aciduria type mut (MMAM) MUTA_HUMAN 156 D N 2xiq B 146 2.3 2.3 Methylmalonic aciduria type mut (MMAM) MUTA_HUMAN 640 D Y 3bic B 630 15.7 15.7 Methylmalonic aciduria type mut (MMAM) MUTA_HUMAN 174 F S 2xiq B 164 0.6 0.6 Methylmalonic aciduria type mut (MMAM) MUTA_HUMAN 573 F S 2xiq A 563 15.9 15.9 Methylmalonic aciduria type mut (MMAM) MUTA_HUMAN 638 F I 2xiq B 628 1.5 1.5 Methylmalonic aciduria type mut (MMAM) MUTA_HUMAN 145 G S 3bic A 135 0.7 0.7 Methylmalonic aciduria type mut (MMAM) MUTA_HUMAN 158 G V 2xiq A 148 0 0 Methylmalonic aciduria type mut (MMAM) MUTA_HUMAN 203 G R 2xij A 193 0 0 Methylmalonic aciduria type mut (MMAM) MUTA_HUMAN 215 G C 2xij A 205 4.8 4.8 Methylmalonic aciduria type mut (MMAM) MUTA_HUMAN 215 G S 2xij A 205 4.8 4.8 Methylmalonic aciduria type mut (MMAM) MUTA_HUMAN 291 G E 2xij A 281 0 0 Methylmalonic aciduria type mut (MMAM) MUTA_HUMAN 312 G V 3bic B 302 6 6 Methylmalonic aciduria type mut (MMAM) MUTA_HUMAN 426 G R 3bic B 416 31.4 0.5 Methylmalonic aciduria type mut (MMAM) MUTA_HUMAN 427 G D 2xiq A 417 49.7 2.8 Methylmalonic aciduria type mut (MMAM) MUTA_HUMAN 623 G R 2xiq A 613 4.6 4.6 Methylmalonic aciduria type mut (MMAM) MUTA_HUMAN 626 G C 3bic B 616 2.2 2.2 Methylmalonic aciduria type mut (MMAM) MUTA_HUMAN 630 G E 2xiq A 620 36.6 36.6 Methylmalonic aciduria type mut (MMAM) MUTA_HUMAN 637 G E 2xij A 627 0 0 Methylmalonic aciduria type mut (MMAM) MUTA_HUMAN 637 G R 2xij A 627 0 0 Methylmalonic aciduria type mut (MMAM) MUTA_HUMAN 642 G R 3bic B 632 10.4 10.4 Methylmalonic aciduria type mut (MMAM) MUTA_HUMAN 648 G D 2xiq A 638 6.8 6.8 Methylmalonic aciduria type mut (MMAM) MUTA_HUMAN 703 G R 2xiq A 693 19.1 19.1 Methylmalonic aciduria type mut (MMAM) MUTA_HUMAN 717 G V 3bic B 707 57.3 57.3 Methylmalonic aciduria type mut (MMAM) MUTA_HUMAN 87 G E 2xij A 77 29.8 17.2 Methylmalonic aciduria type mut (MMAM) MUTA_HUMAN 94 G R 2xij A 84 0 0 Methylmalonic aciduria type mut (MMAM) MUTA_HUMAN 94 G V 2xij A 84 0 0 Methylmalonic aciduria type mut (MMAM) MUTA_HUMAN 265 H Y 3bic B 255 9.3 9.3 Methylmalonic aciduria type mut (MMAM) MUTA_HUMAN 350 H Y 3bic A 340 14.2 14.2 Methylmalonic aciduria type mut (MMAM) MUTA_HUMAN 386 H N 2xiq B 376 7.6 7.6 Methylmalonic aciduria type mut (MMAM) MUTA_HUMAN 627 H R 2xiq A 617 49.9 49.9 Methylmalonic aciduria type mut (MMAM) MUTA_HUMAN 678 H R 3bic B 668 0.4 0.4 Methylmalonic aciduria type mut (MMAM) MUTA_HUMAN 621 K N 2xiq B 611 3.2 3.2 Methylmalonic aciduria type mut (MMAM) MUTA_HUMAN 281 L S 2xij A 271 0 0 Methylmalonic aciduria type mut (MMAM) MUTA_HUMAN 305 L S 2xiq A 295 0.9 0.9 Methylmalonic aciduria type mut (MMAM) MUTA_HUMAN 328 L F 2xij A 318 0 0 Methylmalonic aciduria type mut (MMAM) MUTA_HUMAN 328 L P 2xij A 318 0 0 Methylmalonic aciduria type mut (MMAM) MUTA_HUMAN 347 L R 2xiq A 337 1.5 1.5 Methylmalonic aciduria type mut (MMAM) MUTA_HUMAN 518 L P 2xiq A 508 2.1 2.1 Methylmalonic aciduria type mut (MMAM) MUTA_HUMAN 617 L R 2xij A 607 3 3 Methylmalonic aciduria type mut (MMAM) MUTA_HUMAN 685 L R 2xij A 675 0 0 Methylmalonic aciduria type mut (MMAM) MUTA_HUMAN 186 M V 2xiq B 176 1.4 1.4 Methylmalonic aciduria type mut (MMAM) MUTA_HUMAN 700 M K 2xiq A 690 1.7 1.7 Methylmalonic aciduria type mut (MMAM) MUTA_HUMAN 189 N K 3bic B 179 1.2 1.2 Methylmalonic aciduria type mut (MMAM) MUTA_HUMAN 219 N Y 3bic B 209 0.5 0.5 Methylmalonic aciduria type mut (MMAM) MUTA_HUMAN 388 N H 2xij A 378 4.4 4.4 Methylmalonic aciduria type mut (MMAM) MUTA_HUMAN 615 P R 2xij A 605 0 0 Methylmalonic aciduria type mut (MMAM) MUTA_HUMAN 615 P T 2xij A 605 0 0 Methylmalonic aciduria type mut (MMAM) MUTA_HUMAN 86 P L 2xij A 76 13.1 0 Methylmalonic aciduria type mut (MMAM) MUTA_HUMAN 95 P R 2xij A 85 2.8 2.8 Methylmalonic aciduria type mut (MMAM) MUTA_HUMAN 109 Q R 2xiq A 99 7.8 7.8 Methylmalonic aciduria type mut (MMAM) MUTA_HUMAN 218 Q H 2xij A 208 4.8 4.8 Methylmalonic aciduria type mut (MMAM) MUTA_HUMAN 293 Q P 3bic B 283 47 47 Methylmalonic aciduria type mut (MMAM) MUTA_HUMAN 383 Q H 2xiq B 373 13.9 13.9 Methylmalonic aciduria type mut (MMAM) MUTA_HUMAN 383 Q P 2xiq B 373 13.9 13.9 Methylmalonic aciduria type mut (MMAM) MUTA_HUMAN 624 Q R 2xiq A 614 0.1 0.1 Methylmalonic aciduria type mut (MMAM) MUTA_HUMAN 108 R C 3bic B 98 11.1 11.1 Methylmalonic aciduria type mut (MMAM) MUTA_HUMAN 108 R G 3bic B 98 11.1 11.1 Methylmalonic aciduria type mut (MMAM) MUTA_HUMAN 108 R H 3bic B 98 11.1 11.1 Methylmalonic aciduria type mut (MMAM) MUTA_HUMAN 228 R Q 3bic A 218 12.4 12.4 Methylmalonic aciduria type mut (MMAM) MUTA_HUMAN 369 R C 2xiq B 359 9.3 0.1 Methylmalonic aciduria type mut (MMAM) MUTA_HUMAN 369 R H 2xiq B 359 9.3 0.1 Methylmalonic aciduria type mut (MMAM) MUTA_HUMAN 616 R C 2xiq B 606 23.8 23.8 Methylmalonic aciduria type mut (MMAM) MUTA_HUMAN 694 R W 2xiq A 684 24.9 24.9 Methylmalonic aciduria type mut (MMAM) MUTA_HUMAN 93 R H 3bic B 83 21.5 3.3 Methylmalonic aciduria type mut (MMAM) MUTA_HUMAN 148 S L 3bic A 138 1.7 1.7 Methylmalonic aciduria type mut (MMAM) MUTA_HUMAN 262 S N 2xiq A 252 0.2 0.2 Methylmalonic aciduria type mut (MMAM) MUTA_HUMAN 306 S F 2xiq B 296 9.8 9.8 Methylmalonic aciduria type mut (MMAM) MUTA_HUMAN 230 T I 2xiq A 220 2.1 2.1 Methylmalonic aciduria type mut (MMAM) MUTA_HUMAN 370 T P 2xiq A 360 2.1 2.1 Methylmalonic aciduria type mut (MMAM) MUTA_HUMAN 566 T R 2xiq A 556 1 1 Methylmalonic aciduria type mut (MMAM) MUTA_HUMAN 368 V D 2xiq A 358 60.3 0.4 Methylmalonic aciduria type mut (MMAM) MUTA_HUMAN 633 V G 3bic B 623 4.6 4.6 Methylmalonic aciduria type mut (MMAM) MUTA_HUMAN 669 V E 2xij A 659 0 0 Methylmalonic aciduria type mut (MMAM) MUTA_HUMAN 105 W R 2xiq B 95 0.4 0.4 Methylmalonic aciduria type mut (MMAM) MUTA_HUMAN 231 Y N 2xij A 221 1.9 1.9 Methylmalonic aciduria type mut (MMAM) MUTA_HUMAN 316 Y C 2xij A 306 39.3 0 Methylmalonic aciduria type mut (MMAM) MUTA_HUMAN 587 Y C 2xij A 577 0 0 Methylmalonic aciduria type mut (MMAM) MUTYH_HUMAN 393 G D 1x51 A 45 74.1 74.1 Autosomal recessive colorectal adenomatous polyposis MUTYH_HUMAN 402 P S 1x51 A 54 0.4 0.4 Gastric cancer MUTYH_HUMAN 411 Q R 1x51 A 63 76.1 76.1 Gastric cancer MYD88_HUMAN 196 R C 2js7 A 52 30.7 30.7 MYD88 deficiency (MYD88D) MYH7_HUMAN 901 A G 2fxm A 67 28.8 0 Cardiomyopathy familial hypertrophic type 1 (CMH1) MYH7_HUMAN 905 C F 2fxo B 71 46.6 0.8 Cardiomyopathy familial hypertrophic type 1 (CMH1) MYH7_HUMAN 906 D G 2fxm A 72 47.3 47.3 Cardiomyopathy familial hypertrophic type 1 (CMH1) MYH7_HUMAN 928 D N 2fxo A 94 53.3 53.3 Cardiomyopathy familial hypertrophic type 1 (CMH1) MYH7_HUMAN 953 D H 2fxm B 119 57 48.5 Cardiomyopathy familial hypertrophic type 1 (CMH1) MYH7_HUMAN 846 E Q 2fxo B 12 55.2 38.9 Cardiomyopathy familial hypertrophic type 1 (CMH1) MYH7_HUMAN 894 E G 2fxo A 60 58.2 12.4 Cardiomyopathy familial hypertrophic type 1 (CMH1) MYH7_HUMAN 921 E K 2fxm A 87 34.9 34.9 Cardiomyopathy familial hypertrophic type 1 (CMH1) MYH7_HUMAN 924 E K 2fxo B 90 54.1 54.1 Cardiomyopathy familial hypertrophic type 1 (CMH1) MYH7_HUMAN 924 E Q 2fxo B 90 54.1 54.1 Cardiomyopathy familial hypertrophic type 1 (CMH1) MYH7_HUMAN 927 E K 2fxm B 93 60.1 60.1 Cardiomyopathy familial hypertrophic type 1 (CMH1) MYH7_HUMAN 930 E K 2fxo B 96 55.6 42.3 Cardiomyopathy familial hypertrophic type 1 (CMH1) MYH7_HUMAN 931 E K 2fxm B 97 58 58 Cardiomyopathy familial hypertrophic type 1 (CMH1) MYH7_HUMAN 935 E K 2fxm A 101 50.1 50.1 Cardiomyopathy familial hypertrophic type 1 (CMH1) MYH7_HUMAN 949 E K 2fxm A 115 49.5 49.5 Cardiomyopathy familial hypertrophic type 1 (CMH1) MYH7_HUMAN 908 L V 2fxm B 74 61.1 11.2 Cardiomyopathy familial hypertrophic type 1 (CMH1) MYH7_HUMAN 852 M T 2fxo B 18 46 1.8 Cardiomyopathy familial hypertrophic type 1 (CMH1) MYH7_HUMAN 877 M K 2fxo B 43 65 8.8 Cardiomyopathy familial hypertrophic type 1 (CMH1) MYH7_HUMAN 882 Q E 2fxm B 48 59.8 59.8 Cardiomyopathy familial hypertrophic type 1 (CMH1) MYH7_HUMAN 858 R C 2fxm A 24 53.5 53.5 Cardiomyopathy familial hypertrophic type 1 (CMH1) MYH7_HUMAN 858 R H 2fxm A 24 53.5 53.5 Cardiomyopathy familial hypertrophic type 1 (CMH1) MYH7_HUMAN 869 R C 2fxm B 35 53.8 36.6 Cardiomyopathy familial hypertrophic type 1 (CMH1) MYH7_HUMAN 869 R G 2fxm B 35 53.8 36.6 Cardiomyopathy familial hypertrophic type 1 (CMH1) MYH7_HUMAN 869 R H 2fxm B 35 53.8 36.6 Cardiomyopathy familial hypertrophic type 1 (CMH1) MYH7_HUMAN 870 R C 2fxm B 36 42.6 7.7 Cardiomyopathy familial hypertrophic type 1 (CMH1) MYH7_HUMAN 870 R H 2fxm B 36 42.6 7.7 Cardiomyopathy familial hypertrophic type 1 (CMH1) MYLK4_HUMAN 217 H L 2x4f A 202 13.9 13.9 A lung squamous cell carcinoma sample MYPC3_HUMAN 769 D N 1gxe A 139 106.4 106.4 Cardiomyopathy familial hypertrophic type 4 (CMH4) MYPC3_HUMAN 758 E D 1gxe A 128 65.5 65.5 Cardiomyopathy familial hypertrophic type 4 (CMH4) MYPC3_HUMAN 668 L H 1gxe A 38 8 8 Cardiomyopathy familial hypertrophic type 4 (CMH4) MYPC3_HUMAN 754 N K 1gxe A 124 17 17 Cardiomyopathy familial hypertrophic type 4 (CMH4) MYPC3_HUMAN 653 R H 1gxe A 23 79.7 79.7 Cardiomyopathy familial hypertrophic type 4 (CMH4) MYPC3_HUMAN 667 R H 1gxe A 37 72.7 72.7 Cardiomyopathy familial hypertrophic type 4 (CMH4) MYPC3_HUMAN 667 R P 1gxe A 37 72.7 72.7 Cardiomyopathy familial hypertrophic type 4 (CMH4) MYPC3_HUMAN 732 R C 1gxe A 102 42.8 42.8 Cardiomyopathy familial hypertrophic type 4 (CMH4) MYPC3_HUMAN 416 A S 1pd6 A 70 21 21 Cardiomyopathy familial hypertrophic type 4 (CMH4) MYPC3_HUMAN 450 E Q 1pd6 A 104 93.8 93.8 Cardiomyopathy familial hypertrophic type 4 (CMH4) MYPC3_HUMAN 228 D N 2v6h A 78 42.7 42.7 Cardiomyopathy familial hypertrophic type 4 (CMH4) MYPC3_HUMAN 258 E K 2avg A 118 68.9 68.9 Cardiomyopathy familial hypertrophic type 4 (CMH4) MYPC3_HUMAN 257 H P 2avg A 117 19.3 19.3 Cardiomyopathy familial hypertrophic type 4 (CMH4) MYPC3_HUMAN 161 P S 2v6h A 11 4.6 0.5 Cardiomyopathy familial hypertrophic type 4 (CMH4) MYPC3_HUMAN 219 V L 2avg A 79 3.2 3.2 Cardiomyopathy familial hypertrophic type 4 (CMH4) MYPC3_HUMAN 256 V I 2avg A 116 7 7 Cardiomyopathy familial hypertrophic type 4 (CMH4) MYPC3_HUMAN 237 Y S 2avg A 97 0.1 0.1 Cardiomyopathy familial hypertrophic type 4 (CMH4) MYPC3_HUMAN 5 G R 2k1m A 4 93.8 93.8 Cardiomyopathy familial hypertrophic type 4 (CMH4) MYPC3_HUMAN 59 T A 2k1m A 58 76.5 76.5 Cardiomyopathy familial hypertrophic type 4 (CMH4) NAGAB_HUMAN 325 E K 3h54 B 308 3.2 3.2 Schindler disease NAGAB_HUMAN 329 R Q 3h53 A 312 0 0 Kanzaki disease NAGAB_HUMAN 329 R W 3h53 A 312 0 0 Kanzaki disease NAGAB_HUMAN 160 S C 3h53 A 143 18.6 18.6 Schindler disease NAMPT_HUMAN 176 L S 3dgr A 176 0.5 0.5 A colorectal cancer sample NB5R3_HUMAN 179 A V 1umk A 153 0 0 Hereditary methemoglobinemia (HM) NB5R3_HUMAN 204 C R 1umk A 178 0 0 Hereditary methemoglobinemia (HM) NB5R3_HUMAN 204 C Y 1umk A 178 0 0 Hereditary methemoglobinemia (HM) NB5R3_HUMAN 292 G D 1umk A 266 47.5 47.5 Hereditary methemoglobinemia (HM) NB5R3_HUMAN 149 L P 1umk A 123 0.3 0.3 Hereditary methemoglobinemia (HM) NB5R3_HUMAN 73 L P 1umk A 47 7.8 7.8 Hereditary methemoglobinemia (HM) NB5R3_HUMAN 58 R Q 1umk A 32 7.6 7.6 Hereditary methemoglobinemia (HM) NB5R3_HUMAN 128 S P 1umk A 102 7.8 7.8 Hereditary methemoglobinemia (HM) NB5R3_HUMAN 106 V M 1umk A 80 0.5 0.5 Hereditary methemoglobinemia (HM) NCF1_HUMAN 42 R Q 1kq6 A 42 0.3 0.3 Chronic granulomatous disease autosomal recessive cytochrome-b-positive type 1 (CGD1) NCF2_HUMAN 128 A V 1e96 B 128 0 0 Chronic granulomatous disease autosomal recessive cytochrome-b-positive type 2 (CGD2) NCF2_HUMAN 78 G E 1e96 B 78 0 0 Chronic granulomatous disease autosomal recessive cytochrome-b-positive type 2 (CGD2) NCF2_HUMAN 77 R Q 1e96 B 77 15.6 15.6 Chronic granulomatous disease autosomal recessive cytochrome-b-positive type 2 (CGD2) NCPR_HUMAN 178 Y D 3qfr A 119 45.7 45.7 Adrenal hyperplasia variant type (AHV) NCPR_HUMAN 284 A P 3fjo A 244 0 0 Adrenal hyperplasia variant type (AHV) NCPR_HUMAN 566 C Y 3qe2 A 507 7.7 7.7 Adrenal hyperplasia variant type (AHV) NCPR_HUMAN 454 R H 3qfs A 235 25.9 25.9 Adrenal hyperplasia variant type (AHV) NCPR_HUMAN 489 V E 3qfc A 430 9 9 Adrenal hyperplasia variant type (AHV) NCPR_HUMAN 605 V F 3qfc A 546 1.7 1.7 Isolated disordered steroidogenesis (IDS) NCPR_HUMAN 575 Y C 3fjo A 535 2.7 2.7 Adrenal hyperplasia variant type (AHV) NCTR1_HUMAN 87 D Y 1p6f A 66 61.6 61.6 A colorectal cancer sample NDUA2_HUMAN 50 D N 1s3a A 53 77.4 77.4 A breast cancer sample NEK7_HUMAN 275 I M 2wqm A 275 2 2 An ovarian serous carcinoma sample NEMO_HUMAN 417 C F 2jvx A 26 18.9 18.9 Ectodermal dysplasia anhidrotic with immunodeficiency X-linked (EDAXID) NEMO_HUMAN 417 C R 2jvx A 26 18.9 18.9 Ectodermal dysplasia anhidrotic with immunodeficiency X-linked (EDAXID) NEMO_HUMAN 417 C Y 2jvx A 26 18.9 18.9 Ectodermal dysplasia anhidrotic with immunodeficiency X-linked (EDAXID) NEMO_HUMAN 406 D V 2jvy A 15 46.6 46.6 Ectodermal dysplasia anhidrotic with immunodeficiency X-linked (EDAXID) NEMO_HUMAN 407 M V 2jvx A 16 62.8 62.8 Incontinentia pigmenti (IP) NEMO_HUMAN 57 E K 3brv D 16 60 24.9 Incontinentia pigmenti (IP) NEMO_HUMAN 227 L P 3cl3 E 85 48.8 6 Ectodermal dysplasia anhidrotic with immunodeficiency X-linked (EDAXID) NEMO_HUMAN 288 A G 3fx0 A 47 47.3 17.3 Ectodermal dysplasia anhidrotic with immunodeficiency X-linked (EDAXID) NEMO_HUMAN 323 A P 3fx0 B 82 39.4 31 Incontinentia pigmenti (IP) NEMO_HUMAN 311 D N 3fx0 B 70 57.1 38.6 Ectodermal dysplasia anhidrotic with immunodeficiency X-linked (EDAXID) NEMO_HUMAN 315 E A 3fx0 B 74 69.9 6.3 X-linked familial atypical micobacteriosis type 1 (AMCBX1) NEMO_HUMAN 319 R Q 3fx0 B 78 62.3 31.5 X-linked familial atypical micobacteriosis type 1 (AMCBX1) NEUS_HUMAN 49 S P 3f02 B 46 13.1 0 Familial encephalopathy with neuroserpin inclusion bodies (FEN1B) NEUS_HUMAN 52 S R 3f02 B 49 0 0 Familial encephalopathy with neuroserpin inclusion bodies (FEN1B) NGF_HUMAN 221 R W 1sg1 A 100 27.6 3.4 Hereditary sensory and autonomic neuropathy type 5 (HSAN5) NHEJ1_HUMAN 123 C R 3sr2 H 128 0 0 Severe combined immunodeficiency due to NHEJ1 deficiency (NHEJ1-SCID) NHEJ1_HUMAN 57 R G 3rwr W 57 10.7 7.2 Severe combined immunodeficiency due to NHEJ1 deficiency (NHEJ1-SCID) NHRF1_HUMAN 225 E K 2ozf A 78 34.5 34.5 Hypophosphatemic nephrolithiasis/osteoporosis type 2 (NPHLOP2) NHRF1_HUMAN 153 R Q 2jxo A 11 26.6 26.6 Hypophosphatemic nephrolithiasis/osteoporosis type 2 (NPHLOP2) NIP7_HUMAN 171 E Q 1sqw A 171 49.1 49.1 A breast cancer sample NLGNX_HUMAN 214 G S 2wqz A 183 58.2 58.2 A colorectal cancer sample NOGG_HUMAN 36 A P 1m4u A 10 84.4 54.5 Brachydactyly type B2 (BDB2) NOGG_HUMAN 184 C Y 1m4u A 158 0.1 0.1 Symphalangism proximal syndrome (SYM1) NOGG_HUMAN 48 E K 1m4u A 22 36.6 32.9 Brachydactyly type B2 (BDB2) NOGG_HUMAN 189 G C 1m4u A 163 81.8 57.1 Symphalangism proximal syndrome (SYM1) NOGG_HUMAN 220 I N 1m4u A 194 24.5 0.9 Symphalangism proximal syndrome (SYM1) NOGG_HUMAN 187 P S 1m4u A 161 81.8 22.9 Brachydactyly type B2 (BDB2) NOGG_HUMAN 223 P L 1m4u A 197 23.3 8.7 Symphalangism proximal syndrome (SYM1) NOGG_HUMAN 35 P A 1m4u A 9 94.5 3 Brachydactyly type B2 (BDB2) NOGG_HUMAN 35 P R 1m4u A 9 94.5 3 Symphalangism proximal syndrome (SYM1) NOGG_HUMAN 35 P S 1m4u A 9 94.5 3 Brachydactyly type B2 (BDB2) NOGG_HUMAN 167 R G 1m4u A 141 6.4 6.4 Brachydactyly type B2 (BDB2) NOGG_HUMAN 204 R L 1m4u A 178 20.3 4.9 Tarsal-carpal coalition syndrome (TCC) NOGG_HUMAN 205 W C 1m4u A 179 14.7 14.7 Symphalangism proximal syndrome (SYM1) NOGG_HUMAN 217 W G 1m4u A 191 9.6 9.6 Multiple synostoses syndrome 1 (SYNS1) NOGG_HUMAN 222 Y C 1m4u A 196 12.6 4.7 Symphalangism proximal syndrome (SYM1) NOGG_HUMAN 222 Y D 1m4u A 196 12.6 4.7 Symphalangism proximal syndrome (SYM1) NOS2_HUMAN 679 A S 3hr4 G 183 20 20 A breast cancer sample NOS3_HUMAN 474 R C 1m9r A 408 27.2 27.2 A colorectal cancer sample NPC1_HUMAN 113 C R 3gkh A 93 0 0 Niemann-Pick disease type C1 (NPC1) NPC1_HUMAN 177 C G 3gkh A 157 0 0 Niemann-Pick disease type C1 (NPC1) NPC1_HUMAN 177 C Y 3gkh A 157 0 0 Niemann-Pick disease type C1 (NPC1) NPC1_HUMAN 247 C Y 3gki A 227 74.1 74.1 Niemann-Pick disease type C1 (NPC1) NPC1_HUMAN 63 C R 3gkh A 43 2.5 2.5 Niemann-Pick disease type C1 (NPC1) NPC1_HUMAN 74 C Y 3gkh A 54 0 0 Niemann-Pick disease type C1 (NPC1) NPC1_HUMAN 242 D H 3gki A 222 4.3 4.3 Niemann-Pick disease type C1 (NPC1) NPC1_HUMAN 242 D N 3gki A 222 4.3 4.3 Niemann-Pick disease type C1 (NPC1) NPC1_HUMAN 222 N S 3gkj A 202 45.7 45.7 Niemann-Pick disease type C1 (NPC1) NPC1_HUMAN 166 P S 3gkj A 146 35.9 35.9 Niemann-Pick disease type C1 (NPC1) NPC1_HUMAN 237 P S 3gki A 217 41.1 41.1 Niemann-Pick disease type C1 (NPC1) NPC1_HUMAN 92 Q R 3gkj A 72 59.8 59.8 Niemann-Pick disease type C1 (NPC1) NPC1_HUMAN 137 T M 3gkj A 117 54.7 54.7 Niemann-Pick disease type C1 (NPC1) NPC1_HUMAN 231 V G 3gki A 211 18.8 18.8 Niemann-Pick disease type C1 (NPC1) NTRK1_HUMAN 107 A V 2ifg A 72 38.4 38.4 An ovarian serous carcinoma sample NTRK1_HUMAN 213 L P 2ifg B 178 7.8 7.8 Congenital insensitivity to pain with anhidrosis (CIPA) NTRK1_HUMAN 93 L P 2ifg A 58 5.4 5.4 Congenital insensitivity to pain with anhidrosis (CIPA) NTRK3_HUMAN 336 L Q 1wwc A 40 22 22 A lung adenocarcinoma sample NTRK3_HUMAN 307 V L 1wwc A 11 83.4 18.1 A lung adenocarcinoma sample NU133_HUMAN 326 G V 1xks A 262 28.3 28.3 A breast cancer sample NU133_HUMAN 448 G R 1xks A 384 73.1 73.1 A breast cancer sample OAT_HUMAN 226 A V 1gbn A 189 0 0 Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) OAT_HUMAN 270 A P 1gbn B 233 1 1 Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) OAT_HUMAN 394 C R 1gbn A 357 0 0 Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) OAT_HUMAN 93 C F 1gbn B 56 45.7 0.1 Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) OAT_HUMAN 353 G D 1gbn A 316 0 0 Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) OAT_HUMAN 375 G A 2can A 338 0.3 0.3 Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) OAT_HUMAN 319 H Y 1gbn A 282 25.3 0.7 Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) OAT_HUMAN 402 L P 1gbn A 365 0 0 Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) OAT_HUMAN 54 N K 1gbn A 17 77 0.6 Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) OAT_HUMAN 89 N K 2oat A 89 0 0 Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) OAT_HUMAN 241 P L 2oat A 241 9 9 Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) OAT_HUMAN 417 P L 1gbn A 380 0 0 Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) OAT_HUMAN 90 Q E 1gbn A 53 0.8 0.8 Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) OAT_HUMAN 154 R L 1gbn A 117 24.6 0 Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) OAT_HUMAN 180 R T 2byl A 180 51.3 9.7 Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) OAT_HUMAN 250 R P 1oat C 250 17.9 17.9 Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) OAT_HUMAN 271 R K 1gbn A 234 0 0 Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) OAT_HUMAN 267 T I 2byj C 267 1 1 Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) OAT_HUMAN 332 V M 1gbn A 295 0 0 Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) OAT_HUMAN 245 Y C 1gbn B 208 1.3 1.3 Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) OAT_HUMAN 55 Y H 2byl B 55 70.6 10.5 Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) OCRL_HUMAN 797 A P 3qis A 262 4.6 4.6 Lowe syndrome OCRL_HUMAN 768 I N 2qv2 A 209 0 0 Lowe syndrome ODB2_HUMAN 98 I M 1k8o A 38 1.9 1.9 Maple syrup urine disease type 2 (MSUD2) ODBA_HUMAN 253 A T 1dtw A 208 0 0 Maple syrup urine disease type IA (MSUD1A) ODBA_HUMAN 409 F C 1olu A 364 8.1 0 Maple syrup urine disease type IA (MSUD1A) ODBA_HUMAN 290 G R 1dtw A 245 95.4 4.9 Maple syrup urine disease type IA (MSUD1A) ODBA_HUMAN 326 I T 1dtw A 281 0.5 0 Maple syrup urine disease type IA (MSUD1A) ODBA_HUMAN 190 Q K 1v11 A 145 39.7 2.7 Maple syrup urine disease type IA (MSUD1A) ODBA_HUMAN 159 R W 1u5b A 114 2.2 2.2 Maple syrup urine disease type IA (MSUD1A) ODBA_HUMAN 413 Y C 1dtw A 368 65.8 5.2 Maple syrup urine disease type IA (MSUD1A) ODBA_HUMAN 438 Y N 1x7w A 393 40.7 6.6 Maple syrup urine disease type IA (MSUD1A) ODBB_HUMAN 278 G S 1dtw B 228 0 0 Maple syrup urine disease type IB (MSUD1B) ODBB_HUMAN 206 H R 2bfe B 156 89.8 3.1 Maple syrup urine disease type IB (MSUD1B) ODBB_HUMAN 183 R P 1olx B 133 0.5 0.5 Maple syrup urine disease type IB (MSUD1B) ODPA_HUMAN 199 A T 3exe G 191 1.4 1.4 Pyruvate decarboxylase E1 component deficiency (PDHE1 deficiency) ODPA_HUMAN 258 D A 2ozl A 233 4.4 4.4 X-linked Leigh syndrome (LS) ODPA_HUMAN 315 D N 3exe E 307 4 4 Pyruvate decarboxylase E1 component deficiency (PDHE1 deficiency) ODPA_HUMAN 205 F L 3exe G 197 36.5 7 X-linked Leigh syndrome (LS) ODPA_HUMAN 162 G R 1ni4 A 137 0 0 Pyruvate decarboxylase E1 component deficiency (PDHE1 deficiency) ODPA_HUMAN 113 H D 3exf A 105 8.2 6.9 Pyruvate decarboxylase E1 component deficiency (PDHE1 deficiency) ODPA_HUMAN 292 H L 3exh C 284 11.8 11.8 Pyruvate decarboxylase E1 component deficiency (PDHE1 deficiency) ODPA_HUMAN 210 M V 2ozl A 185 41.9 0 Pyruvate decarboxylase E1 component deficiency (PDHE1 deficiency) ODPA_HUMAN 217 P L 3exi A 209 8.9 8.9 Pyruvate decarboxylase E1 component deficiency (PDHE1 deficiency) ODPA_HUMAN 263 R G 2ozl C 238 0.8 0.8 Pyruvate decarboxylase E1 component deficiency (PDHE1 deficiency) ODPA_HUMAN 263 R Q 2ozl C 238 0.8 0.8 Pyruvate decarboxylase E1 component deficiency (PDHE1 deficiency) ODPA_HUMAN 288 R H 3exh C 280 0.3 0.3 Pyruvate decarboxylase E1 component deficiency (PDHE1 deficiency) ODPA_HUMAN 302 R C 2ozl C 277 5.3 5.3 Pyruvate decarboxylase E1 component deficiency (PDHE1 deficiency) ODPA_HUMAN 302 R H 2ozl C 277 5.3 5.3 Pyruvate decarboxylase E1 component deficiency (PDHE1 deficiency) ODPA_HUMAN 378 R H 1ni4 C 353 66.7 14.5 X-linked Leigh syndrome (LS) ODPA_HUMAN 72 R C 3exe G 64 7.9 7.9 Pyruvate decarboxylase E1 component deficiency (PDHE1 deficiency) ODPA_HUMAN 231 T A 3exf A 223 31.3 5.4 Pyruvate decarboxylase E1 component deficiency (PDHE1 deficiency) ODPA_HUMAN 167 V M 3exi A 159 37.2 20 Pyruvate decarboxylase E1 component deficiency (PDHE1 deficiency) ODPA_HUMAN 243 Y N 3exi A 235 5.7 5.7 Pyruvate decarboxylase E1 component deficiency (PDHE1 deficiency) ODPB_HUMAN 344 P S 3exh B 314 1.9 0.4 Pyruvate dehydrogenase E1 component deficiency (PDHE1 deficiency) ODPB_HUMAN 132 Y C 3exe F 102 91.4 0.3 Pyruvate dehydrogenase E1 component deficiency (PDHE1 deficiency) OGG1_HUMAN 85 A S 2xhi A 100 50.4 50.4 Lung cancer OGG1_HUMAN 12 G E 2nob A 10 14 14 Kidney cancer OGG1_HUMAN 131 R Q 1m3h A 123 0 0 Lung cancer OGG1_HUMAN 154 R H 1m3h A 146 39.9 7.1 Gastric cancer OGG1_HUMAN 46 R Q 2noh A 44 12.1 12.1 Kidney cancer OGG1_HUMAN 232 S T 1ko9 A 232 36.6 36.6 Kidney cancer OLA1_HUMAN 168 E Q 2ohf A 168 59.6 59.6 A breast cancer sample OTC_HUMAN 102 A E 1ep9 A 69 43.1 14.9 Ornithine carbamoyltransferase deficiency (OTCD) OTC_HUMAN 140 A P 1ep9 A 107 0 0 Ornithine carbamoyltransferase deficiency (OTCD) OTC_HUMAN 174 A P 1c9y A 141 0 0 Ornithine carbamoyltransferase deficiency (OTCD) OTC_HUMAN 208 A T 1ep9 A 175 1.3 1.3 Ornithine carbamoyltransferase deficiency (OTCD) OTC_HUMAN 209 A V 1ep9 A 176 7.6 7.6 Ornithine carbamoyltransferase deficiency (OTCD) OTC_HUMAN 336 A S 1c9y A 303 0.1 0.1 Ornithine carbamoyltransferase deficiency (OTCD) OTC_HUMAN 303 C R 1c9y A 270 8.8 8.8 Ornithine carbamoyltransferase deficiency (OTCD) OTC_HUMAN 303 C Y 1c9y A 270 8.8 8.8 Ornithine carbamoyltransferase deficiency (OTCD) OTC_HUMAN 126 D G 1ep9 A 93 48.4 0.9 Ornithine carbamoyltransferase deficiency (OTCD) OTC_HUMAN 175 D V 1ep9 A 142 2.1 2.1 Ornithine carbamoyltransferase deficiency (OTCD) OTC_HUMAN 196 D V 1c9y A 163 6.8 6.8 Ornithine carbamoyltransferase deficiency (OTCD) OTC_HUMAN 196 D Y 1c9y A 163 6.8 6.8 Ornithine carbamoyltransferase deficiency (OTCD) OTC_HUMAN 263 D G 1c9y A 230 5 5 Ornithine carbamoyltransferase deficiency (OTCD) OTC_HUMAN 263 D N 1c9y A 230 5 5 Ornithine carbamoyltransferase deficiency (OTCD) OTC_HUMAN 181 E G 1c9y A 148 46.5 46.5 Ornithine carbamoyltransferase deficiency (OTCD) OTC_HUMAN 326 E K 1c9y A 293 0.8 0.8 Ornithine carbamoyltransferase deficiency (OTCD) OTC_HUMAN 87 E K 1fvo B 54 19.2 19.2 Ornithine carbamoyltransferase deficiency (OTCD) OTC_HUMAN 354 F C 1oth A 321 15.7 15.7 Ornithine carbamoyltransferase deficiency (OTCD) OTC_HUMAN 100 G D 1c9y A 67 0 0 Ornithine carbamoyltransferase deficiency (OTCD) OTC_HUMAN 162 G R 1c9y A 129 0 0 Ornithine carbamoyltransferase deficiency (OTCD) OTC_HUMAN 188 G R 1oth A 155 49.3 49.3 Ornithine carbamoyltransferase deficiency (OTCD) OTC_HUMAN 188 G V 1oth A 155 49.3 49.3 Ornithine carbamoyltransferase deficiency (OTCD) OTC_HUMAN 195 G R 1c9y A 162 0 0 Ornithine carbamoyltransferase deficiency (OTCD) OTC_HUMAN 197 G E 1ep9 A 164 16.1 16.1 Ornithine carbamoyltransferase deficiency (OTCD) OTC_HUMAN 197 G R 1ep9 A 164 16.1 16.1 Ornithine carbamoyltransferase deficiency (OTCD) OTC_HUMAN 269 G E 1fvo B 236 41.2 41.2 Ornithine carbamoyltransferase deficiency (OTCD) OTC_HUMAN 39 G C 1c9y A 6 63 63 Ornithine carbamoyltransferase deficiency (OTCD) OTC_HUMAN 50 G R 1fvo B 17 14.7 14.7 Ornithine carbamoyltransferase deficiency (OTCD) OTC_HUMAN 79 G E 1fvo B 46 97.4 32.4 Ornithine carbamoyltransferase deficiency (OTCD) OTC_HUMAN 83 G D 1c9y A 50 2.9 0 Ornithine carbamoyltransferase deficiency (OTCD) OTC_HUMAN 83 G R 1c9y A 50 2.9 0 Ornithine carbamoyltransferase deficiency (OTCD) OTC_HUMAN 117 H L 1c9y A 84 59 1.9 Ornithine carbamoyltransferase deficiency (OTCD) OTC_HUMAN 117 H R 1c9y A 84 59 1.9 Ornithine carbamoyltransferase deficiency (OTCD) OTC_HUMAN 168 H Q 1oth A 135 2.1 2.1 Ornithine carbamoyltransferase deficiency (OTCD) OTC_HUMAN 168 H R 1oth A 135 2.1 2.1 Ornithine carbamoyltransferase deficiency (OTCD) OTC_HUMAN 182 H L 1fvo B 149 48.9 48.9 Ornithine carbamoyltransferase deficiency (OTCD) OTC_HUMAN 202 H Y 1c9y A 169 3.3 3.3 Ornithine carbamoyltransferase deficiency (OTCD) OTC_HUMAN 214 H Y 1fvo B 181 23.9 23.9 Ornithine carbamoyltransferase deficiency (OTCD) OTC_HUMAN 255 H P 1fvo B 222 59.7 59.7 Ornithine carbamoyltransferase deficiency (OTCD) OTC_HUMAN 302 H L 1c9y A 269 0.2 0.2 Ornithine carbamoyltransferase deficiency (OTCD) OTC_HUMAN 302 H Q 1c9y A 269 0.2 0.2 Ornithine carbamoyltransferase deficiency (OTCD) OTC_HUMAN 302 H Y 1c9y A 269 0.2 0.2 Ornithine carbamoyltransferase deficiency (OTCD) OTC_HUMAN 159 I T 1c9y A 126 0.1 0.1 Ornithine carbamoyltransferase deficiency (OTCD) OTC_HUMAN 160 I S 1c9y A 127 0 0 Ornithine carbamoyltransferase deficiency (OTCD) OTC_HUMAN 172 I F 1c9y A 139 0 0 Ornithine carbamoyltransferase deficiency (OTCD) OTC_HUMAN 172 I M 1c9y A 139 0 0 Ornithine carbamoyltransferase deficiency (OTCD) OTC_HUMAN 88 K N 1c9y A 55 9 9 Ornithine carbamoyltransferase deficiency (OTCD) OTC_HUMAN 139 L S 1c9y A 106 0 0 Ornithine carbamoyltransferase deficiency (OTCD) OTC_HUMAN 148 L F 1c9y A 115 0 0 Ornithine carbamoyltransferase deficiency (OTCD) OTC_HUMAN 191 L F 1c9y A 158 0 0 Ornithine carbamoyltransferase deficiency (OTCD) OTC_HUMAN 201 L P 1c9y A 168 0 0 Ornithine carbamoyltransferase deficiency (OTCD) OTC_HUMAN 244 L Q 1c9y A 211 22.5 22.5 Ornithine carbamoyltransferase deficiency (OTCD) OTC_HUMAN 301 L F 1ep9 A 268 0.1 0.1 Ornithine carbamoyltransferase deficiency (OTCD) OTC_HUMAN 304 L F 1c9y A 271 10 5.3 Ornithine carbamoyltransferase deficiency (OTCD) OTC_HUMAN 341 L P 1c9y A 308 0.9 0.9 Ornithine carbamoyltransferase deficiency (OTCD) OTC_HUMAN 45 L P 1fvo B 12 0.3 0.3 Ornithine carbamoyltransferase deficiency (OTCD) OTC_HUMAN 45 L V 1fvo B 12 0.3 0.3 Ornithine carbamoyltransferase deficiency (OTCD) OTC_HUMAN 63 L P 1c9y A 30 0 0 Ornithine carbamoyltransferase deficiency (OTCD) OTC_HUMAN 206 M I 1oth A 173 0.8 0.8 Ornithine carbamoyltransferase deficiency (OTCD) OTC_HUMAN 206 M R 1oth A 173 0.8 0.8 Ornithine carbamoyltransferase deficiency (OTCD) OTC_HUMAN 213 M K 1fvo B 180 0.6 0.6 Ornithine carbamoyltransferase deficiency (OTCD) OTC_HUMAN 268 M T 1c9y A 235 32 20.9 Ornithine carbamoyltransferase deficiency (OTCD) OTC_HUMAN 56 M T 1c9y A 23 0.4 0.4 Ornithine carbamoyltransferase deficiency (OTCD) OTC_HUMAN 161 N S 1c9y A 128 0 0 Ornithine carbamoyltransferase deficiency (OTCD) OTC_HUMAN 198 N K 1c9y A 165 8.6 8.6 Ornithine carbamoyltransferase deficiency (OTCD) OTC_HUMAN 47 N I 1oth A 14 51.6 51.6 Ornithine carbamoyltransferase deficiency (OTCD) OTC_HUMAN 220 P A 1oth A 187 2.9 2.9 Ornithine carbamoyltransferase deficiency (OTCD) OTC_HUMAN 225 P L 1ep9 A 192 6.6 6.6 Ornithine carbamoyltransferase deficiency (OTCD) OTC_HUMAN 225 P R 1ep9 A 192 6.6 6.6 Ornithine carbamoyltransferase deficiency (OTCD) OTC_HUMAN 225 P T 1ep9 A 192 6.6 6.6 Ornithine carbamoyltransferase deficiency (OTCD) OTC_HUMAN 305 P H 1oth A 272 54.6 10.7 Ornithine carbamoyltransferase deficiency (OTCD) OTC_HUMAN 180 Q H 1oth A 147 10.8 10.8 Ornithine carbamoyltransferase deficiency (OTCD) OTC_HUMAN 216 Q E 1fvo B 183 8.6 8.6 Ornithine carbamoyltransferase deficiency (OTCD) OTC_HUMAN 129 R H 1c9y A 96 61.6 34.4 Ornithine carbamoyltransferase deficiency (OTCD) OTC_HUMAN 141 R P 1c9y A 108 5.5 4.1 Ornithine carbamoyltransferase deficiency (OTCD) OTC_HUMAN 141 R Q 1c9y A 108 5.5 4.1 Ornithine carbamoyltransferase deficiency (OTCD) OTC_HUMAN 277 R Q 1oth A 244 3 3 Ornithine carbamoyltransferase deficiency (OTCD) OTC_HUMAN 277 R W 1oth A 244 3 3 Ornithine carbamoyltransferase deficiency (OTCD) OTC_HUMAN 320 R L 1fvo B 287 35.5 35.5 Ornithine carbamoyltransferase deficiency (OTCD) OTC_HUMAN 330 R G 1c9y A 297 1.7 1.6 Ornithine carbamoyltransferase deficiency (OTCD) OTC_HUMAN 40 R C 1c9y A 7 29.1 29.1 Ornithine carbamoyltransferase deficiency (OTCD) OTC_HUMAN 40 R H 1c9y A 7 29.1 29.1 Ornithine carbamoyltransferase deficiency (OTCD) OTC_HUMAN 92 R Q 1oth A 59 23.7 2.8 Ornithine carbamoyltransferase deficiency (OTCD) OTC_HUMAN 94 R T 1ep9 A 61 30.5 2.1 Ornithine carbamoyltransferase deficiency (OTCD) OTC_HUMAN 192 S R 1c9y A 159 0 0 Ornithine carbamoyltransferase deficiency (OTCD) OTC_HUMAN 203 S C 1ep9 A 170 0.9 0.9 Ornithine carbamoyltransferase deficiency (OTCD) OTC_HUMAN 207 S R 1ep9 A 174 0.3 0.3 Ornithine carbamoyltransferase deficiency (OTCD) OTC_HUMAN 267 S R 1c9y A 234 18.4 18.4 Ornithine carbamoyltransferase deficiency (OTCD) OTC_HUMAN 340 S P 1fvo B 307 4.7 4.7 Ornithine carbamoyltransferase deficiency (OTCD) OTC_HUMAN 60 S L 1ep9 A 27 0.4 0.4 Ornithine carbamoyltransferase deficiency (OTCD) OTC_HUMAN 90 S R 1c9y A 57 26.5 2.2 Ornithine carbamoyltransferase deficiency (OTCD) OTC_HUMAN 125 T M 1fvo B 92 32.5 23.8 Ornithine carbamoyltransferase deficiency (OTCD) OTC_HUMAN 178 T M 1ep9 A 145 1.9 1.9 Ornithine carbamoyltransferase deficiency (OTCD) OTC_HUMAN 242 T I 1fvo B 209 12.2 12.2 Ornithine carbamoyltransferase deficiency (OTCD) OTC_HUMAN 247 T K 1fvo B 214 12.3 12.3 Ornithine carbamoyltransferase deficiency (OTCD) OTC_HUMAN 262 T K 1c9y A 229 0 0 Ornithine carbamoyltransferase deficiency (OTCD) OTC_HUMAN 264 T A 1c9y A 231 8.4 8.4 Ornithine carbamoyltransferase deficiency (OTCD) OTC_HUMAN 264 T I 1c9y A 231 8.4 8.4 Ornithine carbamoyltransferase deficiency (OTCD) OTC_HUMAN 343 T K 1c9y A 310 16.4 16.4 Ornithine carbamoyltransferase deficiency (OTCD) OTC_HUMAN 44 T I 1c9y A 11 4.1 4.1 Ornithine carbamoyltransferase deficiency (OTCD) OTC_HUMAN 93 T A 1fvo B 60 0.5 0.5 Ornithine carbamoyltransferase deficiency (OTCD) OTC_HUMAN 337 V L 1c9y A 304 0 0 Ornithine carbamoyltransferase deficiency (OTCD) OTC_HUMAN 339 V L 1fvo B 306 0.1 0.1 Ornithine carbamoyltransferase deficiency (OTCD) OTC_HUMAN 265 W L 1ep9 A 232 3.5 3.5 Ornithine carbamoyltransferase deficiency (OTCD) OTC_HUMAN 176 Y C 1ep9 A 143 0.7 0.7 Ornithine carbamoyltransferase deficiency (OTCD) OTC_HUMAN 183 Y C 1fvo B 150 19 19 Ornithine carbamoyltransferase deficiency (OTCD) OTC_HUMAN 183 Y D 1fvo B 150 19 19 Ornithine carbamoyltransferase deficiency (OTCD) OTC_HUMAN 345 Y C 1c9y A 312 18.3 18.3 Ornithine carbamoyltransferase deficiency (OTCD) OTC_HUMAN 345 Y D 1c9y A 312 18.3 18.3 Ornithine carbamoyltransferase deficiency (OTCD) OTC_HUMAN 55 Y D 1ep9 A 22 16.2 16.2 Ornithine carbamoyltransferase deficiency (OTCD) OXSM_HUMAN 106 F I 2iwz B 85 9.9 9.9 A breast cancer sample OXSR1_HUMAN 433 P S 2v3s A 2 69.9 69.9 A metastatic melanoma sample P53_HUMAN 347 A G 1saf A 29 46.2 0 A sporadic cancer P53_HUMAN 347 A T 1saf A 29 46.2 0 Sporadic cancers P53_HUMAN 353 A T 3q01 A 230 51.1 51.1 A sporadic cancer P53_HUMAN 352 D H 1olh D 34 57.8 25.3 A sporadic cancer P53_HUMAN 326 E G 3q01 B 203 52.9 38.6 A sporadic cancer P53_HUMAN 339 E K 3q06 B 216 17.2 17.2 A sporadic cancer P53_HUMAN 339 E Q 3q06 B 216 17.2 17.2 A sporadic cancer P53_HUMAN 343 E G 3q06 C 220 9.1 9.1 Sporadic cancers P53_HUMAN 346 E A 3ts8 B 224 19.3 13.3 A sporadic cancer P53_HUMAN 349 E D 3q06 B 226 58.4 25.5 A sporadic cancer P53_HUMAN 328 F L 1aie A 3 81.3 14.9 A sporadic cancer P53_HUMAN 328 F S 1aie A 3 81.3 14.9 Sporadic cancers P53_HUMAN 328 F V 1aie A 3 81.3 14.9 A sporadic cancer P53_HUMAN 338 F I 3q06 B 215 26.9 3.4 A sporadic cancer P53_HUMAN 338 F L 3q06 B 215 26.9 3.4 A sporadic cancer P53_HUMAN 341 F C 1aie A 16 41.6 0 Sporadic cancers P53_HUMAN 334 G V 3q06 B 211 39.3 0.7 Sporadic cancers P53_HUMAN 334 G W 3q06 B 211 39.3 0.7 A sporadic cancer P53_HUMAN 332 I V 1aie A 7 26.9 0 A sporadic cancer P53_HUMAN 330 L H 1aie A 5 77.7 2.3 Sporadic cancers P53_HUMAN 330 L P 1aie A 5 77.7 2.3 A sporadic cancer P53_HUMAN 330 L R 1aie A 5 77.7 2.3 Sporadic cancers P53_HUMAN 344 L P 1aie A 19 56 0.4 Li-Fraumeni syndrome (LFS) P53_HUMAN 344 L R 1aie A 19 56 0.4 A sporadic cancer P53_HUMAN 348 L F 3sak B 30 63.2 0.3 A sporadic cancer P53_HUMAN 348 L S 3sak B 30 63.2 0.3 A sporadic cancer P53_HUMAN 331 Q H 1olh A 13 86.5 38.1 Sporadic cancers P53_HUMAN 331 Q P 1olh A 13 86.5 38.1 Sporadic cancers P53_HUMAN 331 Q R 1olh A 13 86.5 38.1 Sporadic cancers P53_HUMAN 354 Q E 1saf A 36 70.5 41.2 A sporadic cancer P53_HUMAN 354 Q K 1saf A 36 70.5 41.2 A sporadic cancer P53_HUMAN 354 Q R 1saf A 36 70.5 41.2 Sporadic cancers P53_HUMAN 335 R G 3q06 B 212 60.6 30.4 A sporadic cancer P53_HUMAN 335 R H 3q06 B 212 60.6 30.4 A sporadic cancer P53_HUMAN 335 R L 3q06 B 212 60.6 30.4 A sporadic cancer P53_HUMAN 337 R C 2j0z D 12 58.3 5.8 Li-Fraumeni syndrome (LFS) P53_HUMAN 337 R H 2j0z D 12 58.3 5.8 Li-Fraumeni syndrome (LFS) P53_HUMAN 337 R L 2j0z D 12 58.3 5.8 Sporadic cancers P53_HUMAN 337 R P 2j0z D 12 58.3 5.8 Sporadic cancers P53_HUMAN 342 R L 3ts8 B 220 20.9 16.7 A sporadic cancer P53_HUMAN 342 R P 3ts8 B 220 20.9 16.7 Sporadic cancers P53_HUMAN 342 R Q 3ts8 B 220 20.9 16.7 Sporadic cancers P53_HUMAN 329 T I 1a1u C 6 78.1 20.2 A sporadic cancer P53_HUMAN 329 T S 1a1u C 6 78.1 20.2 A sporadic cancer P53_HUMAN 327 Y H 3ts8 C 205 58.9 21.1 A sporadic cancer P53_HUMAN 327 Y S 3ts8 C 205 58.9 21.1 A sporadic cancer P53_HUMAN 356 G A 1hs5 B 33 56.4 37 A sporadic cancer P53_HUMAN 356 G W 1hs5 B 33 56.4 37 A sporadic cancer P53_HUMAN 325 G A 3q01 A 202 37.1 21.9 A sporadic cancer P53_HUMAN 325 G E 3q01 A 202 37.1 21.9 Sporadic cancers P53_HUMAN 325 G V 3q01 A 202 37.1 21.9 Li-Fraumeni syndrome (LFS) P53_HUMAN 385 F L 1h26 E 10 85.8 10.5 A sporadic cancer P53_HUMAN 370 K Q 3tg5 B 6 104.5 2.6 A sporadic cancer P53_HUMAN 379 R H 1dt7 Y 13 66.6 11.7 Sporadic cancers P53_HUMAN 376 S A 2h2d B 5 55.2 55.2 A sporadic cancer P53_HUMAN 376 S T 2h2d B 5 55.2 55.2 A sporadic cancer P53_HUMAN 119 A D 2ac0 C 26 59.6 15.6 A sporadic cancer P53_HUMAN 119 A T 2ac0 C 26 59.6 15.6 A sporadic cancer P53_HUMAN 129 A D 3ts8 C 36 5.6 5.6 Sporadic cancers P53_HUMAN 129 A G 3ts8 C 36 5.6 5.6 A sporadic cancer P53_HUMAN 129 A T 3ts8 C 36 5.6 5.6 Sporadic cancers P53_HUMAN 129 A V 3ts8 C 36 5.6 5.6 Sporadic cancers P53_HUMAN 138 A D 1tsr B 45 45.5 7.5 Sporadic cancers P53_HUMAN 138 A P 1tsr B 45 45.5 7.5 Li-Fraumeni syndrome (LFS) P53_HUMAN 138 A S 1tsr B 45 45.5 7.5 Li-Fraumeni syndrome (LFS) P53_HUMAN 138 A T 1tsr B 45 45.5 7.5 Sporadic cancers P53_HUMAN 138 A V 1tsr B 45 45.5 7.5 Sporadic cancers P53_HUMAN 159 A D 2fej A 66 0 0 Sporadic cancers P53_HUMAN 159 A G 2fej A 66 0 0 Sporadic cancers P53_HUMAN 159 A P 2fej A 66 0 0 Sporadic cancers P53_HUMAN 159 A S 2fej A 66 0 0 Sporadic cancers P53_HUMAN 159 A T 2fej A 66 0 0 Sporadic cancers P53_HUMAN 159 A V 2fej A 66 0 0 Sporadic cancers P53_HUMAN 161 A D 3q06 B 66 5.9 5.9 Sporadic cancers P53_HUMAN 161 A G 3q06 B 66 5.9 5.9 Sporadic cancers P53_HUMAN 161 A P 3q06 B 66 5.9 5.9 Sporadic cancers P53_HUMAN 161 A S 3q06 B 66 5.9 5.9 Sporadic cancers P53_HUMAN 161 A T 3q06 B 66 5.9 5.9 Sporadic cancers P53_HUMAN 161 A V 3q06 B 66 5.9 5.9 Sporadic cancers P53_HUMAN 189 A D 1kzy B 95 1.1 1.1 A sporadic cancer P53_HUMAN 189 A G 1kzy B 95 1.1 1.1 Sporadic cancers P53_HUMAN 189 A P 1kzy B 95 1.1 1.1 Sporadic cancers P53_HUMAN 189 A S 1kzy B 95 1.1 1.1 A sporadic cancer P53_HUMAN 189 A T 1kzy B 95 1.1 1.1 Sporadic cancers P53_HUMAN 189 A V 1kzy B 95 1.1 1.1 A familial cancer not matching LFS P53_HUMAN 276 A D 2ac0 B 183 62 8.8 Sporadic cancers P53_HUMAN 276 A G 2ac0 B 183 62 8.8 Sporadic cancers P53_HUMAN 276 A P 2ac0 B 183 62 8.8 Sporadic cancers P53_HUMAN 276 A S 2ac0 B 183 62 8.8 Sporadic cancers P53_HUMAN 276 A T 2ac0 B 183 62 8.8 Sporadic cancers P53_HUMAN 276 A V 2ac0 B 183 62 8.8 Sporadic cancers P53_HUMAN 124 C G 2bin A 31 0.1 0.1 A sporadic cancer P53_HUMAN 124 C R 2bin A 31 0.1 0.1 Sporadic cancers P53_HUMAN 124 C S 2bin A 31 0.1 0.1 Sporadic cancers P53_HUMAN 124 C W 2bin A 31 0.1 0.1 A sporadic cancer P53_HUMAN 124 C Y 2bin A 31 0.1 0.1 A sporadic cancer P53_HUMAN 135 C F 1gzh A 41 0 0 Sporadic cancers P53_HUMAN 135 C G 1gzh A 41 0 0 Sporadic cancers P53_HUMAN 135 C R 1gzh A 41 0 0 Sporadic cancers P53_HUMAN 135 C S 1gzh A 41 0 0 Sporadic cancers P53_HUMAN 135 C W 1gzh A 41 0 0 Sporadic cancers P53_HUMAN 135 C Y 1gzh A 41 0 0 Sporadic cancers P53_HUMAN 141 C F 1gzh A 47 0 0 Sporadic cancers P53_HUMAN 141 C G 1gzh A 47 0 0 Sporadic cancers P53_HUMAN 141 C R 1gzh A 47 0 0 Sporadic cancers P53_HUMAN 141 C S 1gzh A 47 0 0 Sporadic cancers P53_HUMAN 141 C W 1gzh A 47 0 0 Sporadic cancers P53_HUMAN 141 C Y 1gzh A 47 0 0 Li-Fraumeni syndrome (LFS) P53_HUMAN 176 C F 2ac0 C 83 2.9 0 Sporadic cancers P53_HUMAN 176 C G 2ac0 C 83 2.9 0 Sporadic cancers P53_HUMAN 176 C R 2ac0 C 83 2.9 0 Sporadic cancers P53_HUMAN 176 C S 2ac0 C 83 2.9 0 Sporadic cancers P53_HUMAN 176 C W 2ac0 C 83 2.9 0 Sporadic cancers P53_HUMAN 176 C Y 2ac0 C 83 2.9 0 Sporadic cancers P53_HUMAN 182 C R 1tup B 89 54.6 2.9 Sporadic cancers P53_HUMAN 182 C S 1tup B 89 54.6 2.9 Sporadic cancers P53_HUMAN 182 C Y 1tup B 89 54.6 2.9 Sporadic cancers P53_HUMAN 229 C G 2bip A 136 4.4 4.4 A sporadic cancer P53_HUMAN 229 C R 2bip A 136 4.4 4.4 Sporadic cancers P53_HUMAN 229 C S 2bip A 136 4.4 4.4 Sporadic cancers P53_HUMAN 229 C Y 2bip A 136 4.4 4.4 Sporadic cancers P53_HUMAN 238 C F 1gzh A 144 0 0 Sporadic cancers P53_HUMAN 238 C G 1gzh A 144 0 0 Li-Fraumeni syndrome (LFS) P53_HUMAN 238 C R 1gzh A 144 0 0 Sporadic cancers P53_HUMAN 238 C S 1gzh A 144 0 0 Li-Fraumeni syndrome (LFS) P53_HUMAN 238 C W 1gzh A 144 0 0 Sporadic cancers P53_HUMAN 238 C Y 1gzh A 144 0 0 A familial cancer not matching LFS P53_HUMAN 242 C F 3q06 A 147 13.2 0.3 Sporadic cancers P53_HUMAN 242 C G 3q06 A 147 13.2 0.3 Sporadic cancers P53_HUMAN 242 C R 3q06 A 147 13.2 0.3 Sporadic cancers P53_HUMAN 242 C S 3q06 A 147 13.2 0.3 Sporadic cancers P53_HUMAN 242 C W 3q06 A 147 13.2 0.3 Sporadic cancers P53_HUMAN 242 C Y 3q06 A 147 13.2 0.3 A familial cancer not matching LFS P53_HUMAN 275 C F 3igk A 182 6.6 0.1 Sporadic cancers P53_HUMAN 275 C G 3igk A 182 6.6 0.1 Sporadic cancers P53_HUMAN 275 C R 3igk A 182 6.6 0.1 Sporadic cancers P53_HUMAN 275 C S 3igk A 182 6.6 0.1 Sporadic cancers P53_HUMAN 275 C W 3igk A 182 6.6 0.1 Sporadic cancers P53_HUMAN 275 C Y 3igk A 182 6.6 0.1 Li-Fraumeni syndrome (LFS) P53_HUMAN 277 C F 2ac0 B 184 12.5 0.4 Sporadic cancers P53_HUMAN 277 C G 2ac0 B 184 12.5 0.4 Sporadic cancers P53_HUMAN 277 C R 2ac0 B 184 12.5 0.4 Sporadic cancers P53_HUMAN 277 C S 2ac0 B 184 12.5 0.4 Sporadic cancers P53_HUMAN 277 C W 2ac0 B 184 12.5 0.4 Sporadic cancers P53_HUMAN 277 C Y 2ac0 B 184 12.5 0.4 An osteosarcoma with no family history P53_HUMAN 148 D A 3kz8 A 55 65.7 65.7 A sporadic cancer P53_HUMAN 148 D E 3kz8 A 55 65.7 65.7 Sporadic cancers P53_HUMAN 148 D G 3kz8 A 55 65.7 65.7 A sporadic cancer P53_HUMAN 148 D N 3kz8 A 55 65.7 65.7 Sporadic cancers P53_HUMAN 148 D V 3kz8 A 55 65.7 65.7 Sporadic cancers P53_HUMAN 148 D Y 3kz8 A 55 65.7 65.7 Sporadic cancers P53_HUMAN 207 D E 2pcx A 120 30 30 Sporadic cancers P53_HUMAN 207 D G 2pcx A 120 30 30 Sporadic cancers P53_HUMAN 207 D H 2pcx A 120 30 30 Sporadic cancers P53_HUMAN 207 D N 2pcx A 120 30 30 Sporadic cancers P53_HUMAN 207 D V 2pcx A 120 30 30 A sporadic cancer P53_HUMAN 207 D Y 2pcx A 120 30 30 A sporadic cancer P53_HUMAN 208 D E 3kmd C 117 19.5 19.5 Sporadic cancers P53_HUMAN 208 D G 3kmd C 117 19.5 19.5 Sporadic cancers P53_HUMAN 208 D H 3kmd C 117 19.5 19.5 A sporadic cancer P53_HUMAN 208 D N 3kmd C 117 19.5 19.5 Sporadic cancers P53_HUMAN 208 D V 3kmd C 117 19.5 19.5 Sporadic cancers P53_HUMAN 208 D Y 3kmd C 117 19.5 19.5 A sporadic cancer P53_HUMAN 228 D A 3d0a B 135 48.4 48.4 Sporadic cancers P53_HUMAN 228 D E 3d0a B 135 48.4 48.4 Sporadic cancers P53_HUMAN 228 D G 3d0a B 135 48.4 48.4 Sporadic cancers P53_HUMAN 228 D H 3d0a B 135 48.4 48.4 Sporadic cancers P53_HUMAN 228 D N 3d0a B 135 48.4 48.4 Sporadic cancers P53_HUMAN 228 D V 3d0a B 135 48.4 48.4 Sporadic cancers P53_HUMAN 228 D Y 3d0a B 135 48.4 48.4 Sporadic cancers P53_HUMAN 259 D A 1tup B 166 12.7 12.7 A sporadic cancer P53_HUMAN 259 D E 1tup B 166 12.7 12.7 Sporadic cancers P53_HUMAN 259 D G 1tup B 166 12.7 12.7 Sporadic cancers P53_HUMAN 259 D H 1tup B 166 12.7 12.7 Sporadic cancers P53_HUMAN 259 D N 1tup B 166 12.7 12.7 Sporadic cancers P53_HUMAN 259 D V 1tup B 166 12.7 12.7 Sporadic cancers P53_HUMAN 259 D Y 1tup B 166 12.7 12.7 Sporadic cancers P53_HUMAN 281 D A 1tup A 188 3 3 Sporadic cancers P53_HUMAN 281 D E 1tup A 188 3 3 Sporadic cancers P53_HUMAN 281 D G 1tup A 188 3 3 A brain tumor with no family history P53_HUMAN 281 D H 1tup A 188 3 3 Sporadic cancers P53_HUMAN 281 D N 1tup A 188 3 3 Li-Fraumeni syndrome (LFS) P53_HUMAN 281 D V 1tup A 188 3 3 A familial cancer not matching LFS P53_HUMAN 281 D Y 1tup A 188 3 3 Sporadic cancers P53_HUMAN 171 E A 1tsr A 78 41.7 3.1 A sporadic cancer P53_HUMAN 171 E D 1tsr A 78 41.7 3.1 Sporadic cancers P53_HUMAN 171 E G 1tsr A 78 41.7 3.1 Sporadic cancers P53_HUMAN 171 E K 1tsr A 78 41.7 3.1 Sporadic cancers P53_HUMAN 171 E Q 1tsr A 78 41.7 3.1 A sporadic cancer P53_HUMAN 171 E V 1tsr A 78 41.7 3.1 Sporadic cancers P53_HUMAN 180 E A 3kmd A 89 31 15.2 A sporadic cancer P53_HUMAN 180 E D 3kmd A 89 31 15.2 Sporadic cancers P53_HUMAN 180 E G 3kmd A 89 31 15.2 A sporadic cancer P53_HUMAN 180 E K 3kmd A 89 31 15.2 Li-Fraumeni syndrome (LFS) P53_HUMAN 180 E Q 3kmd A 89 31 15.2 Sporadic cancers P53_HUMAN 180 E V 3kmd A 89 31 15.2 A sporadic cancer P53_HUMAN 198 E D 3ts8 C 105 29.7 12.2 A sporadic cancer P53_HUMAN 198 E G 3ts8 C 105 29.7 12.2 Sporadic cancers P53_HUMAN 198 E K 3ts8 C 105 29.7 12.2 Sporadic cancers P53_HUMAN 198 E Q 3ts8 C 105 29.7 12.2 Sporadic cancers P53_HUMAN 198 E V 3ts8 C 105 29.7 12.2 A sporadic cancer P53_HUMAN 204 E A 3kz8 A 111 27.5 27.5 Sporadic cancers P53_HUMAN 204 E D 3kz8 A 111 27.5 27.5 Sporadic cancers P53_HUMAN 204 E G 3kz8 A 111 27.5 27.5 Sporadic cancers P53_HUMAN 204 E K 3kz8 A 111 27.5 27.5 Sporadic cancers P53_HUMAN 204 E Q 3kz8 A 111 27.5 27.5 A sporadic cancer P53_HUMAN 204 E V 3kz8 A 111 27.5 27.5 A sporadic cancer P53_HUMAN 221 E A 3kz8 B 128 34.9 34.9 Sporadic cancers P53_HUMAN 221 E D 3kz8 B 128 34.9 34.9 Sporadic cancers P53_HUMAN 221 E G 3kz8 B 128 34.9 34.9 Sporadic cancers P53_HUMAN 221 E K 3kz8 B 128 34.9 34.9 Sporadic cancers P53_HUMAN 221 E Q 3kz8 B 128 34.9 34.9 Sporadic cancers P53_HUMAN 258 E A 2j1w A 165 4.3 4.3 Sporadic cancers P53_HUMAN 258 E D 2j1w A 165 4.3 4.3 Sporadic cancers P53_HUMAN 258 E G 2j1w A 165 4.3 4.3 Sporadic cancers P53_HUMAN 258 E K 2j1w A 165 4.3 4.3 Li-Fraumeni syndrome (LFS) P53_HUMAN 258 E Q 2j1w A 165 4.3 4.3 Sporadic cancers P53_HUMAN 258 E V 2j1w A 165 4.3 4.3 Sporadic cancers P53_HUMAN 271 E A 2fej A 178 4.4 4.4 Sporadic cancers P53_HUMAN 271 E D 2fej A 178 4.4 4.4 Sporadic cancers P53_HUMAN 271 E G 2fej A 178 4.4 4.4 Sporadic cancers P53_HUMAN 271 E K 2fej A 178 4.4 4.4 Sporadic cancers P53_HUMAN 271 E Q 2fej A 178 4.4 4.4 Sporadic cancers P53_HUMAN 271 E V 2fej A 178 4.4 4.4 An osteosarcoma with no family history P53_HUMAN 285 E A 2bio A 192 23.2 23.2 A sporadic cancer P53_HUMAN 285 E D 2bio A 192 23.2 23.2 Sporadic cancers P53_HUMAN 285 E G 2bio A 192 23.2 23.2 Sporadic cancers P53_HUMAN 285 E K 2bio A 192 23.2 23.2 Sporadic cancers P53_HUMAN 285 E Q 2bio A 192 23.2 23.2 Li-Fraumeni syndrome (LFS) P53_HUMAN 285 E V 2bio A 192 23.2 23.2 Sporadic cancers P53_HUMAN 286 E A 3q06 C 191 4.2 4.2 Li-Fraumeni syndrome (LFS) P53_HUMAN 286 E D 3q06 C 191 4.2 4.2 Sporadic cancers P53_HUMAN 286 E G 3q06 C 191 4.2 4.2 Sporadic cancers P53_HUMAN 286 E K 3q06 C 191 4.2 4.2 Sporadic cancers P53_HUMAN 286 E Q 3q06 C 191 4.2 4.2 Sporadic cancers P53_HUMAN 286 E V 3q06 C 191 4.2 4.2 Sporadic cancers P53_HUMAN 287 E A 3q01 A 194 32.6 32.6 A sporadic cancer P53_HUMAN 287 E D 3q01 A 194 32.6 32.6 Sporadic cancers P53_HUMAN 287 E G 3q01 A 194 32.6 32.6 Sporadic cancers P53_HUMAN 287 E K 3q01 A 194 32.6 32.6 Sporadic cancers P53_HUMAN 287 E V 3q01 A 194 32.6 32.6 Sporadic cancers P53_HUMAN 109 F C 1kzy B 15 0 0 Sporadic cancers P53_HUMAN 109 F L 1kzy B 15 0 0 A sporadic cancer P53_HUMAN 109 F S 1kzy B 15 0 0 Sporadic cancers P53_HUMAN 113 F C 3d0a A 20 5.6 5.6 Sporadic cancers P53_HUMAN 113 F I 3d0a A 20 5.6 5.6 A sporadic cancer P53_HUMAN 113 F L 3d0a A 20 5.6 5.6 Sporadic cancers P53_HUMAN 113 F S 3d0a A 20 5.6 5.6 Sporadic cancers P53_HUMAN 113 F V 3d0a A 20 5.6 5.6 Sporadic cancers P53_HUMAN 134 F C 1gzh A 40 0 0 Sporadic cancers P53_HUMAN 134 F I 1gzh A 40 0 0 Sporadic cancers P53_HUMAN 134 F L 1gzh A 40 0 0 Sporadic cancers P53_HUMAN 134 F S 1gzh A 40 0 0 Sporadic cancers P53_HUMAN 134 F V 1gzh A 40 0 0 Sporadic cancers P53_HUMAN 212 F I 2pcx A 125 28.6 28.6 Sporadic cancers P53_HUMAN 212 F L 2pcx A 125 28.6 28.6 Sporadic cancers P53_HUMAN 212 F S 2pcx A 125 28.6 28.6 Sporadic cancers P53_HUMAN 212 F V 2pcx A 125 28.6 28.6 A sporadic cancer P53_HUMAN 212 F Y 2pcx A 125 28.6 28.6 Sporadic cancers P53_HUMAN 270 F C 2wgx A 177 0 0 Sporadic cancers P53_HUMAN 270 F I 2wgx A 177 0 0 Sporadic cancers P53_HUMAN 270 F L 2wgx A 177 0 0 Sporadic cancers P53_HUMAN 270 F S 2wgx A 177 0 0 Sporadic cancers P53_HUMAN 270 F V 2wgx A 177 0 0 Sporadic cancers P53_HUMAN 270 F Y 2wgx A 177 0 0 Sporadic cancers P53_HUMAN 105 G C 1tsr B 12 16 16 Li-Fraumeni syndrome (LFS) P53_HUMAN 105 G D 1tsr B 12 16 16 Sporadic cancers P53_HUMAN 105 G R 1tsr B 12 16 16 Sporadic cancers P53_HUMAN 105 G S 1tsr B 12 16 16 A sporadic cancer P53_HUMAN 105 G V 1tsr B 12 16 16 Sporadic cancers P53_HUMAN 108 G D 3q06 A 13 5.2 5.2 A sporadic cancer P53_HUMAN 108 G S 3q06 A 13 5.2 5.2 Sporadic cancers P53_HUMAN 112 G D 3d06 A 19 6.2 6.2 Sporadic cancers P53_HUMAN 112 G S 3d06 A 19 6.2 6.2 Sporadic cancers P53_HUMAN 117 G E 3ts8 B 24 13 13 Sporadic cancers P53_HUMAN 117 G R 3ts8 B 24 13 13 Sporadic cancers P53_HUMAN 154 G A 3q06 B 59 43.3 43.3 Sporadic cancers P53_HUMAN 154 G C 3q06 B 59 43.3 43.3 A sporadic cancer P53_HUMAN 154 G D 3q06 B 59 43.3 43.3 Sporadic cancers P53_HUMAN 154 G S 3q06 B 59 43.3 43.3 Sporadic cancers P53_HUMAN 154 G V 3q06 B 59 43.3 43.3 A brain tumor with no family history P53_HUMAN 199 G A 3ts8 C 106 109.8 13.2 A sporadic cancer P53_HUMAN 199 G E 3ts8 C 106 109.8 13.2 Sporadic cancers P53_HUMAN 199 G R 3ts8 C 106 109.8 13.2 Sporadic cancers P53_HUMAN 199 G V 3ts8 C 106 109.8 13.2 Sporadic cancers P53_HUMAN 244 G A 1kzy B 150 56.4 1.6 Sporadic cancers P53_HUMAN 244 G C 1kzy B 150 56.4 1.6 Sporadic cancers P53_HUMAN 244 G D 1kzy B 150 56.4 1.6 Li-Fraumeni syndrome (LFS) P53_HUMAN 244 G E 1kzy B 150 56.4 1.6 A sporadic cancer P53_HUMAN 244 G R 1kzy B 150 56.4 1.6 Sporadic cancers P53_HUMAN 244 G S 1kzy B 150 56.4 1.6 Sporadic cancers P53_HUMAN 244 G V 1kzy B 150 56.4 1.6 Li-Fraumeni syndrome (LFS) P53_HUMAN 245 G A 3d07 A 152 0 0 Sporadic cancers P53_HUMAN 245 G C 3d07 A 152 0 0 Li-Fraumeni syndrome (LFS) P53_HUMAN 245 G D 3d07 A 152 0 0 Li-Fraumeni syndrome (LFS) P53_HUMAN 245 G E 3d07 A 152 0 0 A sporadic cancer P53_HUMAN 245 G R 3d07 A 152 0 0 Sporadic cancers P53_HUMAN 245 G S 3d07 A 152 0 0 Li-Fraumeni syndrome (LFS) P53_HUMAN 245 G V 3d07 A 152 0 0 Li-Fraumeni syndrome (LFS) P53_HUMAN 262 G C 2qvq A 169 37 37 A sporadic cancer P53_HUMAN 262 G D 2qvq A 169 37 37 Sporadic cancers P53_HUMAN 262 G S 2qvq A 169 37 37 Sporadic cancers P53_HUMAN 262 G V 2qvq A 169 37 37 Sporadic cancers P53_HUMAN 266 G A 1gzh A 172 0 0 Sporadic cancers P53_HUMAN 266 G E 1gzh A 172 0 0 Sporadic cancers P53_HUMAN 266 G R 1gzh A 172 0 0 Sporadic cancers P53_HUMAN 266 G V 1gzh A 172 0 0 Sporadic cancers P53_HUMAN 279 G E 1gzh A 185 0 0 Sporadic cancers P53_HUMAN 279 G R 1gzh A 185 0 0 Sporadic cancers P53_HUMAN 279 G V 1gzh A 185 0 0 Sporadic cancers P53_HUMAN 279 G W 1gzh A 185 0 0 Sporadic cancers P53_HUMAN 115 H Y 2fej A 22 32.2 32.2 Sporadic cancers P53_HUMAN 168 H D 1gzh A 74 27.9 8.6 Sporadic cancers P53_HUMAN 168 H L 1gzh A 74 27.9 8.6 Sporadic cancers P53_HUMAN 168 H N 1gzh A 74 27.9 8.6 Sporadic cancers P53_HUMAN 168 H P 1gzh A 74 27.9 8.6 Sporadic cancers P53_HUMAN 168 H Q 1gzh A 74 27.9 8.6 Sporadic cancers P53_HUMAN 168 H R 1gzh A 74 27.9 8.6 Sporadic cancers P53_HUMAN 168 H Y 1gzh A 74 27.9 8.6 Sporadic cancers P53_HUMAN 178 H D 3d0a A 85 65.9 16 Sporadic cancers P53_HUMAN 178 H L 3d0a A 85 65.9 16 A sporadic cancer P53_HUMAN 178 H N 3d0a A 85 65.9 16 Sporadic cancers P53_HUMAN 178 H P 3d0a A 85 65.9 16 Sporadic cancers P53_HUMAN 178 H Q 3d0a A 85 65.9 16 Sporadic cancers P53_HUMAN 178 H R 3d0a A 85 65.9 16 Sporadic cancers P53_HUMAN 178 H Y 3d0a A 85 65.9 16 Sporadic cancers P53_HUMAN 179 H D 2bip A 86 8.7 8.7 Sporadic cancers P53_HUMAN 179 H L 2bip A 86 8.7 8.7 Sporadic cancers P53_HUMAN 179 H N 2bip A 86 8.7 8.7 Sporadic cancers P53_HUMAN 179 H P 2bip A 86 8.7 8.7 Sporadic cancers P53_HUMAN 179 H Q 2bip A 86 8.7 8.7 Sporadic cancers P53_HUMAN 179 H R 2bip A 86 8.7 8.7 Sporadic cancers P53_HUMAN 179 H Y 2bip A 86 8.7 8.7 Li-Fraumeni syndrome (LFS) P53_HUMAN 193 H D 1ycs A 100 0.8 0.8 Sporadic cancers P53_HUMAN 193 H L 1ycs A 100 0.8 0.8 Sporadic cancers P53_HUMAN 193 H N 1ycs A 100 0.8 0.8 Sporadic cancers P53_HUMAN 193 H P 1ycs A 100 0.8 0.8 Sporadic cancers P53_HUMAN 193 H Q 1ycs A 100 0.8 0.8 Sporadic cancers P53_HUMAN 193 H R 1ycs A 100 0.8 0.8 Li-Fraumeni syndrome (LFS) P53_HUMAN 193 H Y 1ycs A 100 0.8 0.8 Sporadic cancers P53_HUMAN 214 H D 3d0a B 121 7.5 7.5 Sporadic cancers P53_HUMAN 214 H P 3d0a B 121 7.5 7.5 A sporadic cancer P53_HUMAN 214 H Q 3d0a B 121 7.5 7.5 Sporadic cancers P53_HUMAN 214 H R 3d0a B 121 7.5 7.5 Sporadic cancers P53_HUMAN 214 H Y 3d0a B 121 7.5 7.5 Sporadic cancers P53_HUMAN 233 H D 3kmd D 142 36.1 6 Li-Fraumeni syndrome (LFS) P53_HUMAN 233 H L 3kmd D 142 36.1 6 Sporadic cancers P53_HUMAN 233 H P 3kmd D 142 36.1 6 A sporadic cancer P53_HUMAN 233 H Q 3kmd D 142 36.1 6 Sporadic cancers P53_HUMAN 233 H R 3kmd D 142 36.1 6 Sporadic cancers P53_HUMAN 233 H Y 3kmd D 142 36.1 6 Sporadic cancers P53_HUMAN 162 I F 1kzy A 68 0 0 Sporadic cancers P53_HUMAN 162 I M 1kzy A 68 0 0 Sporadic cancers P53_HUMAN 162 I N 1kzy A 68 0 0 A breast cancer with no family history P53_HUMAN 162 I S 1kzy A 68 0 0 Sporadic cancers P53_HUMAN 162 I T 1kzy A 68 0 0 Sporadic cancers P53_HUMAN 162 I V 1kzy A 68 0 0 Sporadic cancers P53_HUMAN 195 I F 2fej A 102 0.3 0.3 Sporadic cancers P53_HUMAN 195 I L 2fej A 102 0.3 0.3 A sporadic cancer P53_HUMAN 195 I N 2fej A 102 0.3 0.3 Sporadic cancers P53_HUMAN 195 I S 2fej A 102 0.3 0.3 Sporadic cancers P53_HUMAN 195 I T 2fej A 102 0.3 0.3 Sporadic cancers P53_HUMAN 195 I V 2fej A 102 0.3 0.3 A sporadic cancer P53_HUMAN 232 I F 2qvq A 139 2.4 2.4 Sporadic cancers P53_HUMAN 232 I L 2qvq A 139 2.4 2.4 Sporadic cancers P53_HUMAN 232 I N 2qvq A 139 2.4 2.4 Sporadic cancers P53_HUMAN 232 I S 2qvq A 139 2.4 2.4 Sporadic cancers P53_HUMAN 232 I T 2qvq A 139 2.4 2.4 Sporadic cancers P53_HUMAN 232 I V 2qvq A 139 2.4 2.4 Sporadic cancers P53_HUMAN 251 I F 1gzh A 157 0 0 Sporadic cancers P53_HUMAN 251 I L 1gzh A 157 0 0 Sporadic cancers P53_HUMAN 251 I M 1gzh A 157 0 0 Li-Fraumeni syndrome (LFS) P53_HUMAN 251 I N 1gzh A 157 0 0 Sporadic cancers P53_HUMAN 251 I S 1gzh A 157 0 0 Sporadic cancers P53_HUMAN 251 I T 1gzh A 157 0 0 Sporadic cancers P53_HUMAN 251 I V 1gzh A 157 0 0 Sporadic cancers P53_HUMAN 254 I F 2fej A 161 1.5 1.5 A sporadic cancer P53_HUMAN 254 I L 2fej A 161 1.5 1.5 A sporadic cancer P53_HUMAN 254 I M 2fej A 161 1.5 1.5 A sporadic cancer P53_HUMAN 254 I N 2fej A 161 1.5 1.5 Sporadic cancers P53_HUMAN 254 I S 2fej A 161 1.5 1.5 Sporadic cancers P53_HUMAN 254 I T 2fej A 161 1.5 1.5 Sporadic cancers P53_HUMAN 254 I V 2fej A 161 1.5 1.5 Sporadic cancers P53_HUMAN 255 I F 1gzh A 161 0 0 Sporadic cancers P53_HUMAN 255 I M 1gzh A 161 0 0 Sporadic cancers P53_HUMAN 255 I N 1gzh A 161 0 0 Sporadic cancers P53_HUMAN 255 I S 1gzh A 161 0 0 Sporadic cancers P53_HUMAN 255 I T 1gzh A 161 0 0 Sporadic cancers P53_HUMAN 255 I V 1gzh A 161 0 0 Sporadic cancers P53_HUMAN 101 K N 3kmd C 10 68.9 27.2 A sporadic cancer P53_HUMAN 101 K R 3kmd C 10 68.9 27.2 Sporadic cancers P53_HUMAN 120 K E 2ac0 B 27 61.3 2 Sporadic cancers P53_HUMAN 120 K M 2ac0 B 27 61.3 2 Sporadic cancers P53_HUMAN 120 K Q 2ac0 B 27 61.3 2 A sporadic cancer P53_HUMAN 120 K R 2ac0 B 27 61.3 2 Sporadic cancers P53_HUMAN 132 K E 3igk A 39 5.2 5.2 Li-Fraumeni syndrome (LFS) P53_HUMAN 132 K M 3igk A 39 5.2 5.2 Sporadic cancers P53_HUMAN 132 K N 3igk A 39 5.2 5.2 Sporadic cancers P53_HUMAN 132 K Q 3igk A 39 5.2 5.2 Sporadic cancers P53_HUMAN 132 K R 3igk A 39 5.2 5.2 Sporadic cancers P53_HUMAN 132 K T 3igk A 39 5.2 5.2 Sporadic cancers P53_HUMAN 139 K E 2fej A 46 10.3 10.3 Sporadic cancers P53_HUMAN 139 K N 2fej A 46 10.3 10.3 Sporadic cancers P53_HUMAN 139 K Q 2fej A 46 10.3 10.3 Sporadic cancers P53_HUMAN 139 K R 2fej A 46 10.3 10.3 Sporadic cancers P53_HUMAN 139 K T 2fej A 46 10.3 10.3 Sporadic cancers P53_HUMAN 164 K E 3d07 A 71 12.3 12.3 Sporadic cancers P53_HUMAN 164 K M 3d07 A 71 12.3 12.3 Sporadic cancers P53_HUMAN 164 K N 3d07 A 71 12.3 12.3 Sporadic cancers P53_HUMAN 164 K Q 3d07 A 71 12.3 12.3 Sporadic cancers P53_HUMAN 164 K R 3d07 A 71 12.3 12.3 Sporadic cancers P53_HUMAN 164 K T 3d07 A 71 12.3 12.3 Sporadic cancers P53_HUMAN 291 K E 2wgx A 198 12.5 12.5 Sporadic cancers P53_HUMAN 291 K M 2wgx A 198 12.5 12.5 Sporadic cancers P53_HUMAN 291 K N 2wgx A 198 12.5 12.5 Sporadic cancers P53_HUMAN 291 K Q 2wgx A 198 12.5 12.5 Sporadic cancers P53_HUMAN 291 K R 2wgx A 198 12.5 12.5 Sporadic cancers P53_HUMAN 291 K T 2wgx A 198 12.5 12.5 Sporadic cancers P53_HUMAN 292 K E 2ac0 A 199 11.2 11.2 Sporadic cancers P53_HUMAN 292 K I 2ac0 A 199 11.2 11.2 Li-Fraumeni syndrome (LFS) P53_HUMAN 292 K N 2ac0 A 199 11.2 11.2 Sporadic cancers P53_HUMAN 292 K Q 2ac0 A 199 11.2 11.2 A sporadic cancer P53_HUMAN 292 K R 2ac0 A 199 11.2 11.2 Sporadic cancers P53_HUMAN 292 K T 2ac0 A 199 11.2 11.2 Sporadic cancers P53_HUMAN 111 L M 2fej A 18 5.7 5.7 A sporadic cancer P53_HUMAN 111 L P 2fej A 18 5.7 5.7 Sporadic cancers P53_HUMAN 111 L Q 2fej A 18 5.7 5.7 Sporadic cancers P53_HUMAN 111 L R 2fej A 18 5.7 5.7 Sporadic cancers P53_HUMAN 130 L F 3d0a A 37 18.6 18.6 Sporadic cancers P53_HUMAN 130 L H 3d0a A 37 18.6 18.6 Sporadic cancers P53_HUMAN 130 L I 3d0a A 37 18.6 18.6 A sporadic cancer P53_HUMAN 130 L P 3d0a A 37 18.6 18.6 Sporadic cancers P53_HUMAN 130 L R 3d0a A 37 18.6 18.6 Sporadic cancers P53_HUMAN 130 L V 3d0a A 37 18.6 18.6 Sporadic cancers P53_HUMAN 137 L M 1tup B 44 27.3 11.5 Sporadic cancers P53_HUMAN 137 L P 1tup B 44 27.3 11.5 Sporadic cancers P53_HUMAN 137 L Q 1tup B 44 27.3 11.5 Sporadic cancers P53_HUMAN 137 L V 1tup B 44 27.3 11.5 Sporadic cancers P53_HUMAN 145 L M 2qvq A 52 0 0 Sporadic cancers P53_HUMAN 145 L P 2qvq A 52 0 0 Sporadic cancers P53_HUMAN 145 L Q 2qvq A 52 0 0 Sporadic cancers P53_HUMAN 145 L R 2qvq A 52 0 0 Sporadic cancers P53_HUMAN 145 L V 2qvq A 52 0 0 Sporadic cancers P53_HUMAN 194 L F 3q06 B 99 1.3 1.3 Sporadic cancers P53_HUMAN 194 L H 3q06 B 99 1.3 1.3 Sporadic cancers P53_HUMAN 194 L I 3q06 B 99 1.3 1.3 Sporadic cancers P53_HUMAN 194 L P 3q06 B 99 1.3 1.3 Sporadic cancers P53_HUMAN 194 L R 3q06 B 99 1.3 1.3 Sporadic cancers P53_HUMAN 194 L V 3q06 B 99 1.3 1.3 Sporadic cancers P53_HUMAN 201 L F 3kmd D 110 89.5 36 Sporadic cancers P53_HUMAN 201 L P 3kmd D 110 89.5 36 A sporadic cancer P53_HUMAN 201 L S 3kmd D 110 89.5 36 A sporadic cancer P53_HUMAN 206 L F 2qvq A 113 25.3 25.3 A sporadic cancer P53_HUMAN 206 L M 2qvq A 113 25.3 25.3 A sporadic cancer P53_HUMAN 252 L F 2fej A 159 1.4 1.4 Sporadic cancers P53_HUMAN 252 L H 2fej A 159 1.4 1.4 A sporadic cancer P53_HUMAN 252 L I 2fej A 159 1.4 1.4 Sporadic cancers P53_HUMAN 252 L P 2fej A 159 1.4 1.4 Li-Fraumeni syndrome (LFS) P53_HUMAN 252 L V 2fej A 159 1.4 1.4 A sporadic cancer P53_HUMAN 257 L P 1gzh A 163 0 0 Sporadic cancers P53_HUMAN 257 L Q 1gzh A 163 0 0 Li-Fraumeni syndrome (LFS) P53_HUMAN 257 L R 1gzh A 163 0 0 Sporadic cancers P53_HUMAN 257 L V 1gzh A 163 0 0 Sporadic cancers P53_HUMAN 264 L I 3ts8 A 171 40.3 15.4 Sporadic cancers P53_HUMAN 264 L P 3ts8 A 171 40.3 15.4 A sporadic cancer P53_HUMAN 264 L Q 3ts8 A 171 40.3 15.4 A sporadic cancer P53_HUMAN 264 L R 3ts8 A 171 40.3 15.4 Sporadic cancers P53_HUMAN 264 L V 3ts8 A 171 40.3 15.4 A sporadic cancer P53_HUMAN 265 L M 2fej A 172 9.8 9.8 Sporadic cancers P53_HUMAN 265 L P 2fej A 172 9.8 9.8 Li-Fraumeni syndrome (LFS) P53_HUMAN 265 L Q 2fej A 172 9.8 9.8 Sporadic cancers P53_HUMAN 265 L R 2fej A 172 9.8 9.8 Sporadic cancers P53_HUMAN 289 L F 3ts8 C 196 26.1 26.1 Sporadic cancers P53_HUMAN 289 L H 3ts8 C 196 26.1 26.1 Sporadic cancers P53_HUMAN 289 L P 3ts8 C 196 26.1 26.1 Sporadic cancers P53_HUMAN 289 L R 3ts8 C 196 26.1 26.1 A sporadic cancer P53_HUMAN 289 L V 3ts8 C 196 26.1 26.1 Sporadic cancers P53_HUMAN 133 M I 1tsr B 40 0.1 0.1 Sporadic cancers P53_HUMAN 133 M K 1tsr B 40 0.1 0.1 Sporadic cancers P53_HUMAN 133 M L 1tsr B 40 0.1 0.1 Sporadic cancers P53_HUMAN 133 M R 1tsr B 40 0.1 0.1 Li-Fraumeni syndrome (LFS) P53_HUMAN 133 M T 1tsr B 40 0.1 0.1 Li-Fraumeni syndrome (LFS) P53_HUMAN 133 M V 1tsr B 40 0.1 0.1 Sporadic cancers P53_HUMAN 160 M I 3d06 A 67 13.3 13.3 Sporadic cancers P53_HUMAN 160 M K 3d06 A 67 13.3 13.3 Sporadic cancers P53_HUMAN 160 M T 3d06 A 67 13.3 13.3 A sporadic cancer P53_HUMAN 160 M V 3d06 A 67 13.3 13.3 Sporadic cancers P53_HUMAN 169 M I 2ac0 B 76 12.7 2.5 Sporadic cancers P53_HUMAN 169 M K 2ac0 B 76 12.7 2.5 Sporadic cancers P53_HUMAN 169 M T 2ac0 B 76 12.7 2.5 Sporadic cancers P53_HUMAN 169 M V 2ac0 B 76 12.7 2.5 Sporadic cancers P53_HUMAN 237 M I 1tsr B 144 7.7 0 Li-Fraumeni syndrome (LFS) P53_HUMAN 237 M K 1tsr B 144 7.7 0 Sporadic cancers P53_HUMAN 237 M L 1tsr B 144 7.7 0 Sporadic cancers P53_HUMAN 237 M R 1tsr B 144 7.7 0 Sporadic cancers P53_HUMAN 237 M T 1tsr B 144 7.7 0 Sporadic cancers P53_HUMAN 237 M V 1tsr B 144 7.7 0 Sporadic cancers P53_HUMAN 243 M I 3d07 A 150 6.1 6.1 Sporadic cancers P53_HUMAN 243 M K 3d07 A 150 6.1 6.1 Sporadic cancers P53_HUMAN 243 M L 3d07 A 150 6.1 6.1 Sporadic cancers P53_HUMAN 243 M R 3d07 A 150 6.1 6.1 Sporadic cancers P53_HUMAN 243 M T 3d07 A 150 6.1 6.1 Sporadic cancers P53_HUMAN 243 M V 3d07 A 150 6.1 6.1 Sporadic cancers P53_HUMAN 246 M I 1gzh A 152 0 0 Sporadic cancers P53_HUMAN 246 M K 1gzh A 152 0 0 Sporadic cancers P53_HUMAN 246 M L 1gzh A 152 0 0 Sporadic cancers P53_HUMAN 246 M R 1gzh A 152 0 0 Sporadic cancers P53_HUMAN 246 M T 1gzh A 152 0 0 Sporadic cancers P53_HUMAN 246 M V 1gzh A 152 0 0 Li-Fraumeni syndrome (LFS) P53_HUMAN 131 N D 2fej A 38 29.8 29.8 A sporadic cancer P53_HUMAN 131 N H 2fej A 38 29.8 29.8 Sporadic cancers P53_HUMAN 131 N I 2fej A 38 29.8 29.8 Sporadic cancers P53_HUMAN 131 N K 2fej A 38 29.8 29.8 Sporadic cancers P53_HUMAN 131 N S 2fej A 38 29.8 29.8 Sporadic cancers P53_HUMAN 131 N T 2fej A 38 29.8 29.8 A sporadic cancer P53_HUMAN 131 N Y 2fej A 38 29.8 29.8 Sporadic cancers P53_HUMAN 210 N D 1tsr A 117 74 39.1 Sporadic cancers P53_HUMAN 210 N H 1tsr A 117 74 39.1 Sporadic cancers P53_HUMAN 210 N I 1tsr A 117 74 39.1 A sporadic cancer P53_HUMAN 210 N K 1tsr A 117 74 39.1 A sporadic cancer P53_HUMAN 210 N S 1tsr A 117 74 39.1 Sporadic cancers P53_HUMAN 210 N T 1tsr A 117 74 39.1 A sporadic cancer P53_HUMAN 210 N Y 1tsr A 117 74 39.1 A familial cancer not matching LFS P53_HUMAN 235 N D 3igk A 142 0 0 An adrenocortical carcinoma with no family history P53_HUMAN 235 N H 3igk A 142 0 0 A sporadic cancer P53_HUMAN 235 N I 3igk A 142 0 0 Sporadic cancers P53_HUMAN 235 N S 3igk A 142 0 0 Li-Fraumeni syndrome (LFS) P53_HUMAN 235 N T 3igk A 142 0 0 Sporadic cancers P53_HUMAN 235 N Y 3igk A 142 0 0 Sporadic cancers P53_HUMAN 239 N D 3d05 A 146 19.5 2.7 Sporadic cancers P53_HUMAN 239 N H 3d05 A 146 19.5 2.7 A sporadic cancer P53_HUMAN 239 N I 3d05 A 146 19.5 2.7 A sporadic cancer P53_HUMAN 239 N K 3d05 A 146 19.5 2.7 Sporadic cancers P53_HUMAN 239 N S 3d05 A 146 19.5 2.7 Sporadic cancers P53_HUMAN 239 N T 3d05 A 146 19.5 2.7 Sporadic cancers P53_HUMAN 239 N Y 3d05 A 146 19.5 2.7 Sporadic cancers P53_HUMAN 247 N D 1kzy B 153 25.3 2.5 Sporadic cancers P53_HUMAN 247 N I 1kzy B 153 25.3 2.5 Sporadic cancers P53_HUMAN 247 N K 1kzy B 153 25.3 2.5 Sporadic cancers P53_HUMAN 247 N S 1kzy B 153 25.3 2.5 Sporadic cancers P53_HUMAN 247 N T 1kzy B 153 25.3 2.5 Sporadic cancers P53_HUMAN 247 N Y 1kzy B 153 25.3 2.5 Sporadic cancers P53_HUMAN 263 N D 2fej A 170 40.5 40.5 Sporadic cancers P53_HUMAN 263 N H 2fej A 170 40.5 40.5 Sporadic cancers P53_HUMAN 263 N I 2fej A 170 40.5 40.5 Sporadic cancers P53_HUMAN 263 N K 2fej A 170 40.5 40.5 A sporadic cancer P53_HUMAN 263 N S 2fej A 170 40.5 40.5 A sporadic cancer P53_HUMAN 268 N H 2fej A 175 1.8 1.8 Sporadic cancers P53_HUMAN 268 N I 2fej A 175 1.8 1.8 Sporadic cancers P53_HUMAN 268 N K 2fej A 175 1.8 1.8 A sporadic cancer P53_HUMAN 268 N S 2fej A 175 1.8 1.8 Sporadic cancers P53_HUMAN 268 N Y 2fej A 175 1.8 1.8 A sporadic cancer P53_HUMAN 288 N D 3kmd B 197 46.5 41.4 A sporadic cancer P53_HUMAN 288 N K 3kmd B 197 46.5 41.4 Sporadic cancers P53_HUMAN 288 N S 3kmd B 197 46.5 41.4 Sporadic cancers P53_HUMAN 288 N T 3kmd B 197 46.5 41.4 Sporadic cancers P53_HUMAN 288 N Y 3kmd B 197 46.5 41.4 Sporadic cancers P53_HUMAN 128 P A 3q06 C 33 14 14 Sporadic cancers P53_HUMAN 128 P L 3q06 C 33 14 14 Sporadic cancers P53_HUMAN 128 P R 3q06 C 33 14 14 Sporadic cancers P53_HUMAN 128 P S 3q06 C 33 14 14 Sporadic cancers P53_HUMAN 142 P A 3d08 A 49 3 3 Sporadic cancers P53_HUMAN 142 P H 3d08 A 49 3 3 Sporadic cancers P53_HUMAN 142 P L 3d08 A 49 3 3 Sporadic cancers P53_HUMAN 142 P R 3d08 A 49 3 3 A sporadic cancer P53_HUMAN 142 P S 3d08 A 49 3 3 Sporadic cancers P53_HUMAN 142 P T 3d08 A 49 3 3 Sporadic cancers P53_HUMAN 151 P A 1kzy A 57 0.4 0.4 Sporadic cancers P53_HUMAN 151 P H 1kzy A 57 0.4 0.4 Sporadic cancers P53_HUMAN 151 P L 1kzy A 57 0.4 0.4 Sporadic cancers P53_HUMAN 151 P R 1kzy A 57 0.4 0.4 Sporadic cancers P53_HUMAN 151 P S 1kzy A 57 0.4 0.4 Li-Fraumeni syndrome (LFS) P53_HUMAN 151 P T 1kzy A 57 0.4 0.4 Li-Fraumeni syndrome (LFS) P53_HUMAN 152 P A 2fej A 59 14.3 14.3 Sporadic cancers P53_HUMAN 152 P L 2fej A 59 14.3 14.3 Li-Fraumeni syndrome (LFS) P53_HUMAN 152 P Q 2fej A 59 14.3 14.3 Sporadic cancers P53_HUMAN 152 P R 2fej A 59 14.3 14.3 Sporadic cancers P53_HUMAN 152 P S 2fej A 59 14.3 14.3 Sporadic cancers P53_HUMAN 152 P T 2fej A 59 14.3 14.3 Sporadic cancers P53_HUMAN 153 P A 3d0a B 60 58.6 58.6 Sporadic cancers P53_HUMAN 153 P H 3d0a B 60 58.6 58.6 A sporadic cancer P53_HUMAN 153 P L 3d0a B 60 58.6 58.6 Sporadic cancers P53_HUMAN 153 P R 3d0a B 60 58.6 58.6 A sporadic cancer P53_HUMAN 153 P S 3d0a B 60 58.6 58.6 Sporadic cancers P53_HUMAN 153 P T 3d0a B 60 58.6 58.6 Sporadic cancers P53_HUMAN 177 P A 3ts8 C 84 49.3 3.5 A sporadic cancer P53_HUMAN 177 P H 3ts8 C 84 49.3 3.5 Sporadic cancers P53_HUMAN 177 P L 3ts8 C 84 49.3 3.5 Sporadic cancers P53_HUMAN 177 P R 3ts8 C 84 49.3 3.5 Sporadic cancers P53_HUMAN 177 P S 3ts8 C 84 49.3 3.5 Sporadic cancers P53_HUMAN 177 P T 3ts8 C 84 49.3 3.5 A sporadic cancer P53_HUMAN 190 P A 1ycs A 97 21.4 21.4 Sporadic cancers P53_HUMAN 190 P H 1ycs A 97 21.4 21.4 A sporadic cancer P53_HUMAN 190 P L 1ycs A 97 21.4 21.4 Sporadic cancers P53_HUMAN 190 P R 1ycs A 97 21.4 21.4 Sporadic cancers P53_HUMAN 190 P S 1ycs A 97 21.4 21.4 Sporadic cancers P53_HUMAN 190 P T 1ycs A 97 21.4 21.4 Sporadic cancers P53_HUMAN 191 P H 2fej A 98 25.2 25.2 Sporadic cancers P53_HUMAN 191 P L 2fej A 98 25.2 25.2 Sporadic cancers P53_HUMAN 191 P R 2fej A 98 25.2 25.2 Sporadic cancers P53_HUMAN 191 P S 2fej A 98 25.2 25.2 Sporadic cancers P53_HUMAN 191 P T 2fej A 98 25.2 25.2 Sporadic cancers P53_HUMAN 219 P H 1kzy A 125 15.1 15.1 A sporadic cancer P53_HUMAN 219 P L 1kzy A 125 15.1 15.1 Sporadic cancers P53_HUMAN 219 P R 1kzy A 125 15.1 15.1 A sporadic cancer P53_HUMAN 219 P S 1kzy A 125 15.1 15.1 A familial cancer not matching LFS P53_HUMAN 219 P T 1kzy A 125 15.1 15.1 Sporadic cancers P53_HUMAN 222 P A 3ts8 B 129 47.8 47.8 A sporadic cancer P53_HUMAN 222 P L 3ts8 B 129 47.8 47.8 Sporadic cancers P53_HUMAN 222 P Q 3ts8 B 129 47.8 47.8 Sporadic cancers P53_HUMAN 222 P R 3ts8 B 129 47.8 47.8 A sporadic cancer P53_HUMAN 222 P S 3ts8 B 129 47.8 47.8 Sporadic cancers P53_HUMAN 222 P T 3ts8 B 129 47.8 47.8 Sporadic cancers P53_HUMAN 223 P A 2qxb A 129 22.3 22.3 A sporadic cancer P53_HUMAN 223 P H 2qxb A 129 22.3 22.3 Sporadic cancers P53_HUMAN 223 P L 2qxb A 129 22.3 22.3 Sporadic cancers P53_HUMAN 223 P R 2qxb A 129 22.3 22.3 A sporadic cancer P53_HUMAN 223 P S 2qxb A 129 22.3 22.3 A sporadic cancer P53_HUMAN 223 P T 2qxb A 129 22.3 22.3 A sporadic cancer P53_HUMAN 250 P A 2bio A 157 22.8 22.8 Sporadic cancers P53_HUMAN 250 P H 2bio A 157 22.8 22.8 Sporadic cancers P53_HUMAN 250 P L 2bio A 157 22.8 22.8 Sporadic cancers P53_HUMAN 250 P Q 2bio A 157 22.8 22.8 Sporadic cancers P53_HUMAN 250 P S 2bio A 157 22.8 22.8 Sporadic cancers P53_HUMAN 250 P T 2bio A 157 22.8 22.8 Sporadic cancers P53_HUMAN 278 P A 1kzy A 184 0 0 Sporadic cancers P53_HUMAN 278 P H 1kzy A 184 0 0 Sporadic cancers P53_HUMAN 278 P L 1kzy A 184 0 0 Li-Fraumeni syndrome (LFS) P53_HUMAN 278 P R 1kzy A 184 0 0 Sporadic cancers P53_HUMAN 278 P S 1kzy A 184 0 0 Li-Fraumeni syndrome (LFS) P53_HUMAN 278 P T 1kzy A 184 0 0 Li-Fraumeni syndrome (LFS) P53_HUMAN 98 P L 3d07 A 5 20.4 20.4 Sporadic cancers P53_HUMAN 98 P S 3d07 A 5 20.4 20.4 Sporadic cancers P53_HUMAN 100 Q R 1tsr A 7 29.7 29.7 A sporadic cancer P53_HUMAN 104 Q H 3kz8 A 11 27.3 27.3 Sporadic cancers P53_HUMAN 104 Q L 3kz8 A 11 27.3 27.3 A sporadic cancer P53_HUMAN 136 Q E 3igk A 43 13 13 Sporadic cancers P53_HUMAN 136 Q H 3igk A 43 13 13 Sporadic cancers P53_HUMAN 136 Q K 3igk A 43 13 13 A sporadic cancer P53_HUMAN 136 Q P 3igk A 43 13 13 Sporadic cancers P53_HUMAN 136 Q R 3igk A 43 13 13 Sporadic cancers P53_HUMAN 144 Q H 3ts8 A 51 0.6 0.6 Sporadic cancers P53_HUMAN 144 Q K 3ts8 A 51 0.6 0.6 Sporadic cancers P53_HUMAN 144 Q L 3ts8 A 51 0.6 0.6 Li-Fraumeni syndrome (LFS) P53_HUMAN 144 Q P 3ts8 A 51 0.6 0.6 Sporadic cancers P53_HUMAN 144 Q R 3ts8 A 51 0.6 0.6 Sporadic cancers P53_HUMAN 165 Q E 1tsr A 72 34.3 15.3 Sporadic cancers P53_HUMAN 165 Q H 1tsr A 72 34.3 15.3 A sporadic cancer P53_HUMAN 165 Q L 1tsr A 72 34.3 15.3 Sporadic cancers P53_HUMAN 165 Q P 1tsr A 72 34.3 15.3 Sporadic cancers P53_HUMAN 165 Q R 1tsr A 72 34.3 15.3 Sporadic cancers P53_HUMAN 167 Q H 3kmd C 76 71.8 21.4 Sporadic cancers P53_HUMAN 167 Q K 3kmd C 76 71.8 21.4 Li-Fraumeni syndrome (LFS) P53_HUMAN 167 Q L 3kmd C 76 71.8 21.4 Sporadic cancers P53_HUMAN 167 Q R 3kmd C 76 71.8 21.4 Sporadic cancers P53_HUMAN 192 Q H 2pcx A 105 10 10 Sporadic cancers P53_HUMAN 192 Q K 2pcx A 105 10 10 A sporadic cancer P53_HUMAN 192 Q L 2pcx A 105 10 10 Sporadic cancers P53_HUMAN 192 Q P 2pcx A 105 10 10 Sporadic cancers P53_HUMAN 192 Q R 2pcx A 105 10 10 Sporadic cancers P53_HUMAN 110 R C 3kz8 B 17 26.5 26.5 Sporadic cancers P53_HUMAN 110 R G 3kz8 B 17 26.5 26.5 A sporadic cancer P53_HUMAN 110 R H 3kz8 B 17 26.5 26.5 Sporadic cancers P53_HUMAN 110 R L 3kz8 B 17 26.5 26.5 A familial cancer not matching LFS P53_HUMAN 110 R P 3kz8 B 17 26.5 26.5 Sporadic cancers P53_HUMAN 110 R S 3kz8 B 17 26.5 26.5 A sporadic cancer P53_HUMAN 156 R C 2qvq A 63 19.5 19.5 Sporadic cancers P53_HUMAN 156 R G 2qvq A 63 19.5 19.5 Sporadic cancers P53_HUMAN 156 R H 2qvq A 63 19.5 19.5 Li-Fraumeni syndrome (LFS) P53_HUMAN 156 R L 2qvq A 63 19.5 19.5 Sporadic cancers P53_HUMAN 156 R P 2qvq A 63 19.5 19.5 Sporadic cancers P53_HUMAN 156 R S 2qvq A 63 19.5 19.5 Sporadic cancers P53_HUMAN 158 R C 2x0v A 65 10.8 10.8 Sporadic cancers P53_HUMAN 158 R G 2x0v A 65 10.8 10.8 Li-Fraumeni syndrome (LFS) P53_HUMAN 158 R H 2x0v A 65 10.8 10.8 Li-Fraumeni syndrome (LFS) P53_HUMAN 158 R L 2x0v A 65 10.8 10.8 Sporadic cancers P53_HUMAN 158 R P 2x0v A 65 10.8 10.8 Sporadic cancers P53_HUMAN 158 R Q 2x0v A 65 10.8 10.8 A sporadic cancer P53_HUMAN 158 R S 2x0v A 65 10.8 10.8 Sporadic cancers P53_HUMAN 174 R G 2xwr A 86 11 11 Li-Fraumeni syndrome (LFS) P53_HUMAN 174 R K 2xwr A 86 11 11 Sporadic cancers P53_HUMAN 174 R M 2xwr A 86 11 11 Sporadic cancers P53_HUMAN 174 R S 2xwr A 86 11 11 Sporadic cancers P53_HUMAN 174 R T 2xwr A 86 11 11 A sporadic cancer P53_HUMAN 174 R W 2xwr A 86 11 11 Sporadic cancers P53_HUMAN 175 R C 1tsr A 82 1.7 0.1 Sporadic cancers P53_HUMAN 175 R G 1tsr A 82 1.7 0.1 Li-Fraumeni syndrome (LFS) P53_HUMAN 175 R H 1tsr A 82 1.7 0.1 Li-Fraumeni syndrome (LFS) P53_HUMAN 175 R L 1tsr A 82 1.7 0.1 Li-Fraumeni syndrome (LFS) P53_HUMAN 175 R P 1tsr A 82 1.7 0.1 Sporadic cancers P53_HUMAN 175 R Q 1tsr A 82 1.7 0.1 A sporadic cancer P53_HUMAN 175 R S 1tsr A 82 1.7 0.1 Sporadic cancers P53_HUMAN 181 R C 1tup B 88 82 27.2 Li-Fraumeni syndrome (LFS) P53_HUMAN 181 R G 1tup B 88 82 27.2 Sporadic cancers P53_HUMAN 181 R H 1tup B 88 82 27.2 Li-Fraumeni syndrome (LFS) P53_HUMAN 181 R L 1tup B 88 82 27.2 A familial cancer not matching LFS P53_HUMAN 181 R P 1tup B 88 82 27.2 A familial cancer not matching LFS P53_HUMAN 181 R S 1tup B 88 82 27.2 Sporadic cancers P53_HUMAN 196 R G 1tsr B 103 5.4 1.2 Sporadic cancers P53_HUMAN 196 R L 1tsr B 103 5.4 1.2 Sporadic cancers P53_HUMAN 196 R P 1tsr B 103 5.4 1.2 Li-Fraumeni syndrome (LFS) P53_HUMAN 196 R Q 1tsr B 103 5.4 1.2 Sporadic cancers P53_HUMAN 196 R S 1tsr B 103 5.4 1.2 A sporadic cancer P53_HUMAN 202 R C 3kmd D 111 53.4 38.8 Sporadic cancers P53_HUMAN 202 R G 3kmd D 111 53.4 38.8 Sporadic cancers P53_HUMAN 202 R H 3kmd D 111 53.4 38.8 Sporadic cancers P53_HUMAN 202 R L 3kmd D 111 53.4 38.8 Sporadic cancers P53_HUMAN 202 R P 3kmd D 111 53.4 38.8 Sporadic cancers P53_HUMAN 202 R S 3kmd D 111 53.4 38.8 Sporadic cancers P53_HUMAN 209 R I 3d0a B 116 41 41 Sporadic cancers P53_HUMAN 209 R K 3d0a B 116 41 41 Sporadic cancers P53_HUMAN 209 R S 3d0a B 116 41 41 A sporadic cancer P53_HUMAN 209 R T 3d0a B 116 41 41 Sporadic cancers P53_HUMAN 213 R G 2ac0 A 120 1.1 1.1 Sporadic cancers P53_HUMAN 213 R L 2ac0 A 120 1.1 1.1 Sporadic cancers P53_HUMAN 213 R P 2ac0 A 120 1.1 1.1 Li-Fraumeni syndrome (LFS) P53_HUMAN 213 R Q 2ac0 A 120 1.1 1.1 Li-Fraumeni syndrome (LFS) P53_HUMAN 213 R W 2ac0 A 120 1.1 1.1 Sporadic cancers P53_HUMAN 248 R C 1ycs A 155 79.4 13.3 A sporadic cancer P53_HUMAN 248 R G 1ycs A 155 79.4 13.3 Sporadic cancers P53_HUMAN 248 R L 1ycs A 155 79.4 13.3 Sporadic cancers P53_HUMAN 248 R P 1ycs A 155 79.4 13.3 Sporadic cancers P53_HUMAN 248 R Q 1ycs A 155 79.4 13.3 Li-Fraumeni syndrome (LFS) P53_HUMAN 248 R W 1ycs A 155 79.4 13.3 Li-Fraumeni syndrome (LFS) P53_HUMAN 249 R G 1ycs A 156 15.5 1.4 Sporadic cancers P53_HUMAN 249 R I 1ycs A 156 15.5 1.4 A sporadic cancer P53_HUMAN 249 R K 1ycs A 156 15.5 1.4 Sporadic cancers P53_HUMAN 249 R M 1ycs A 156 15.5 1.4 Sporadic cancers P53_HUMAN 249 R S 1ycs A 156 15.5 1.4 Sporadic cancers P53_HUMAN 249 R T 1ycs A 156 15.5 1.4 Sporadic cancers P53_HUMAN 249 R W 1ycs A 156 15.5 1.4 Sporadic cancers P53_HUMAN 267 R G 3ts8 A 174 13.4 2 Sporadic cancers P53_HUMAN 267 R H 3ts8 A 174 13.4 2 A sporadic cancer P53_HUMAN 267 R P 3ts8 A 174 13.4 2 Sporadic cancers P53_HUMAN 267 R Q 3ts8 A 174 13.4 2 Li-Fraumeni syndrome (LFS) P53_HUMAN 267 R W 3ts8 A 174 13.4 2 Sporadic cancers P53_HUMAN 273 R C 2ac0 C 180 33.9 11.5 Li-Fraumeni syndrome (LFS) P53_HUMAN 273 R G 2ac0 C 180 33.9 11.5 Li-Fraumeni syndrome (LFS) P53_HUMAN 273 R H 2ac0 C 180 33.9 11.5 Li-Fraumeni syndrome (LFS) P53_HUMAN 273 R L 2ac0 C 180 33.9 11.5 Li-Fraumeni syndrome (LFS) P53_HUMAN 273 R P 2ac0 C 180 33.9 11.5 Sporadic cancers P53_HUMAN 273 R Q 2ac0 C 180 33.9 11.5 Sporadic cancers P53_HUMAN 273 R S 2ac0 C 180 33.9 11.5 A familial cancer not matching LFS P53_HUMAN 280 R G 2ac0 B 187 50.4 1.9 Sporadic cancers P53_HUMAN 280 R I 2ac0 B 187 50.4 1.9 Sporadic cancers P53_HUMAN 280 R K 2ac0 B 187 50.4 1.9 A familial cancer not matching LFS P53_HUMAN 280 R P 2ac0 B 187 50.4 1.9 A sporadic cancer P53_HUMAN 280 R S 2ac0 B 187 50.4 1.9 Sporadic cancers P53_HUMAN 280 R T 2ac0 B 187 50.4 1.9 Sporadic cancers P53_HUMAN 282 R G 2pcx A 195 0.1 0.1 Li-Fraumeni syndrome (LFS) P53_HUMAN 282 R H 2pcx A 195 0.1 0.1 A sporadic cancer P53_HUMAN 282 R L 2pcx A 195 0.1 0.1 Sporadic cancers P53_HUMAN 282 R P 2pcx A 195 0.1 0.1 Sporadic cancers P53_HUMAN 282 R Q 2pcx A 195 0.1 0.1 A familial cancer not matching LFS P53_HUMAN 282 R W 2pcx A 195 0.1 0.1 Li-Fraumeni syndrome (LFS) P53_HUMAN 283 R C 3d09 A 190 25.5 25.5 Li-Fraumeni syndrome (LFS) P53_HUMAN 283 R G 3d09 A 190 25.5 25.5 Sporadic cancers P53_HUMAN 283 R H 3d09 A 190 25.5 25.5 A brain tumor with no family history P53_HUMAN 283 R L 3d09 A 190 25.5 25.5 Sporadic cancers P53_HUMAN 283 R P 3d09 A 190 25.5 25.5 Sporadic cancers P53_HUMAN 283 R S 3d09 A 190 25.5 25.5 A sporadic cancer P53_HUMAN 290 R C 3ts8 C 197 22.9 22.9 Sporadic cancers P53_HUMAN 290 R H 3ts8 C 197 22.9 22.9 Li-Fraumeni syndrome (LFS) P53_HUMAN 290 R L 3ts8 C 197 22.9 22.9 Li-Fraumeni syndrome (LFS) P53_HUMAN 106 S G 3q06 C 11 79.3 79.3 A sporadic cancer P53_HUMAN 106 S R 3q06 C 11 79.3 79.3 A familial cancer not matching LFS P53_HUMAN 116 S C 3ts8 B 23 16.4 16.4 Sporadic cancers P53_HUMAN 116 S F 3ts8 B 23 16.4 16.4 A sporadic cancer P53_HUMAN 116 S P 3ts8 B 23 16.4 16.4 A sporadic cancer P53_HUMAN 121 S F 3d0a A 28 49.1 1.2 Sporadic cancers P53_HUMAN 127 S C 1gzh A 33 0 0 A sporadic cancer P53_HUMAN 127 S F 1gzh A 33 0 0 Sporadic cancers P53_HUMAN 127 S P 1gzh A 33 0 0 Sporadic cancers P53_HUMAN 127 S T 1gzh A 33 0 0 Sporadic cancers P53_HUMAN 127 S Y 1gzh A 33 0 0 Sporadic cancers P53_HUMAN 149 S F 3q06 C 54 42.2 42.2 Sporadic cancers P53_HUMAN 149 S P 3q06 C 54 42.2 42.2 Sporadic cancers P53_HUMAN 149 S T 3q06 C 54 42.2 42.2 Sporadic cancers P53_HUMAN 166 S A 2ac0 B 73 76 5.9 Sporadic cancers P53_HUMAN 166 S G 2ac0 B 73 76 5.9 A sporadic cancer P53_HUMAN 166 S L 2ac0 B 73 76 5.9 Sporadic cancers P53_HUMAN 166 S P 2ac0 B 73 76 5.9 Sporadic cancers P53_HUMAN 166 S T 2ac0 B 73 76 5.9 Sporadic cancers P53_HUMAN 215 S C 2fej A 122 1.2 1.2 Sporadic cancers P53_HUMAN 215 S G 2fej A 122 1.2 1.2 Sporadic cancers P53_HUMAN 215 S I 2fej A 122 1.2 1.2 Sporadic cancers P53_HUMAN 215 S N 2fej A 122 1.2 1.2 Sporadic cancers P53_HUMAN 215 S R 2fej A 122 1.2 1.2 Sporadic cancers P53_HUMAN 215 S T 2fej A 122 1.2 1.2 Sporadic cancers P53_HUMAN 240 S C 2bim A 147 2.4 2.4 Sporadic cancers P53_HUMAN 240 S G 2bim A 147 2.4 2.4 Sporadic cancers P53_HUMAN 240 S I 2bim A 147 2.4 2.4 Sporadic cancers P53_HUMAN 240 S N 2bim A 147 2.4 2.4 Sporadic cancers P53_HUMAN 240 S P 2bim A 147 2.4 2.4 A sporadic cancer P53_HUMAN 240 S R 2bim A 147 2.4 2.4 Sporadic cancers P53_HUMAN 240 S T 2bim A 147 2.4 2.4 Sporadic cancers P53_HUMAN 241 S A 1tsr B 148 40.1 9 Sporadic cancers P53_HUMAN 241 S C 1tsr B 148 40.1 9 Sporadic cancers P53_HUMAN 241 S F 1tsr B 148 40.1 9 Li-Fraumeni syndrome (LFS) P53_HUMAN 241 S P 1tsr B 148 40.1 9 Sporadic cancers P53_HUMAN 241 S T 1tsr B 148 40.1 9 Li-Fraumeni syndrome (LFS) P53_HUMAN 241 S Y 1tsr B 148 40.1 9 Sporadic cancers P53_HUMAN 260 S A 3q06 B 165 57.7 57.7 Sporadic cancers P53_HUMAN 260 S C 3q06 B 165 57.7 57.7 Sporadic cancers P53_HUMAN 260 S F 3q06 B 165 57.7 57.7 Sporadic cancers P53_HUMAN 260 S P 3q06 B 165 57.7 57.7 Sporadic cancers P53_HUMAN 260 S T 3q06 B 165 57.7 57.7 A sporadic cancer P53_HUMAN 260 S Y 3q06 B 165 57.7 57.7 Sporadic cancers P53_HUMAN 261 S C 1tsr B 168 69.6 69.6 A sporadic cancer P53_HUMAN 261 S G 1tsr B 168 69.6 69.6 Sporadic cancers P53_HUMAN 261 S I 1tsr B 168 69.6 69.6 Sporadic cancers P53_HUMAN 261 S N 1tsr B 168 69.6 69.6 A sporadic cancer P53_HUMAN 261 S R 1tsr B 168 69.6 69.6 Sporadic cancers P53_HUMAN 269 S C 2wgx A 176 9.3 9.3 Sporadic cancers P53_HUMAN 269 S G 2wgx A 176 9.3 9.3 Sporadic cancers P53_HUMAN 269 S I 2wgx A 176 9.3 9.3 A sporadic cancer P53_HUMAN 269 S N 2wgx A 176 9.3 9.3 Sporadic cancers P53_HUMAN 269 S R 2wgx A 176 9.3 9.3 Sporadic cancers P53_HUMAN 269 S T 2wgx A 176 9.3 9.3 A sporadic cancer P53_HUMAN 95 S F 3ts8 A 2 12.3 3.7 Sporadic cancers P53_HUMAN 95 S T 3ts8 A 2 12.3 3.7 A sporadic cancer P53_HUMAN 96 S C 3d07 A 3 18.6 18.6 A sporadic cancer P53_HUMAN 96 S F 3d07 A 3 18.6 18.6 Sporadic cancers P53_HUMAN 96 S P 3d07 A 3 18.6 18.6 A sporadic cancer P53_HUMAN 99 S F 3ts8 A 6 49.6 21.1 Sporadic cancers P53_HUMAN 99 S P 3ts8 A 6 49.6 21.1 A sporadic cancer P53_HUMAN 102 T I 2fej A 9 43.3 43.3 Sporadic cancers P53_HUMAN 118 T A 3q06 B 23 1.4 1.4 A sporadic cancer P53_HUMAN 118 T I 3q06 B 23 1.4 1.4 Sporadic cancers P53_HUMAN 118 T R 3q06 B 23 1.4 1.4 A sporadic cancer P53_HUMAN 123 T I 2ac0 A 30 43.5 2.9 A sporadic cancer P53_HUMAN 123 T N 2ac0 A 30 43.5 2.9 A sporadic cancer P53_HUMAN 125 T A 2fej A 32 0 0 A sporadic cancer P53_HUMAN 125 T K 2fej A 32 0 0 Sporadic cancers P53_HUMAN 125 T M 2fej A 32 0 0 Sporadic cancers P53_HUMAN 125 T P 2fej A 32 0 0 A sporadic cancer P53_HUMAN 125 T R 2fej A 32 0 0 Sporadic cancers P53_HUMAN 140 T A 3kz8 B 47 33.9 1.7 Sporadic cancers P53_HUMAN 140 T I 3kz8 B 47 33.9 1.7 Sporadic cancers P53_HUMAN 140 T N 3kz8 B 47 33.9 1.7 A sporadic cancer P53_HUMAN 140 T P 3kz8 B 47 33.9 1.7 A sporadic cancer P53_HUMAN 140 T S 3kz8 B 47 33.9 1.7 Sporadic cancers P53_HUMAN 150 T A 3ts8 B 57 55.1 55.1 A sporadic cancer P53_HUMAN 150 T I 3ts8 B 57 55.1 55.1 Sporadic cancers P53_HUMAN 150 T K 3ts8 B 57 55.1 55.1 Sporadic cancers P53_HUMAN 150 T N 3ts8 B 57 55.1 55.1 A sporadic cancer P53_HUMAN 150 T P 3ts8 B 57 55.1 55.1 A sporadic cancer P53_HUMAN 150 T R 3ts8 B 57 55.1 55.1 A sporadic cancer P53_HUMAN 155 T A 2fej A 62 0 0 Sporadic cancers P53_HUMAN 155 T I 2fej A 62 0 0 Sporadic cancers P53_HUMAN 155 T M 2fej A 62 0 0 A sporadic cancer P53_HUMAN 155 T N 2fej A 62 0 0 Li-Fraumeni syndrome (LFS) P53_HUMAN 155 T P 2fej A 62 0 0 Sporadic cancers P53_HUMAN 155 T S 2fej A 62 0 0 Sporadic cancers P53_HUMAN 170 T A 3ts8 A 77 45.7 3.2 Sporadic cancers P53_HUMAN 170 T K 3ts8 A 77 45.7 3.2 A sporadic cancer P53_HUMAN 170 T M 3ts8 A 77 45.7 3.2 Sporadic cancers P53_HUMAN 170 T P 3ts8 A 77 45.7 3.2 A sporadic cancer P53_HUMAN 170 T S 3ts8 A 77 45.7 3.2 Sporadic cancers P53_HUMAN 211 T A 2ac0 A 118 17.2 17.2 Sporadic cancers P53_HUMAN 211 T I 2ac0 A 118 17.2 17.2 Sporadic cancers P53_HUMAN 211 T N 2ac0 A 118 17.2 17.2 Sporadic cancers P53_HUMAN 211 T P 2ac0 A 118 17.2 17.2 A sporadic cancer P53_HUMAN 211 T S 2ac0 A 118 17.2 17.2 Sporadic cancers P53_HUMAN 230 T A 1tsr A 137 3.6 3.6 Sporadic cancers P53_HUMAN 230 T I 1tsr A 137 3.6 3.6 Sporadic cancers P53_HUMAN 230 T N 1tsr A 137 3.6 3.6 Sporadic cancers P53_HUMAN 230 T P 1tsr A 137 3.6 3.6 Sporadic cancers P53_HUMAN 230 T S 1tsr A 137 3.6 3.6 Sporadic cancers P53_HUMAN 231 T A 3q06 B 136 26.3 26.3 Sporadic cancers P53_HUMAN 231 T I 3q06 B 136 26.3 26.3 Sporadic cancers P53_HUMAN 231 T N 3q06 B 136 26.3 26.3 Sporadic cancers P53_HUMAN 231 T S 3q06 B 136 26.3 26.3 Sporadic cancers P53_HUMAN 253 T A 1gzh A 159 0 0 Sporadic cancers P53_HUMAN 253 T I 1gzh A 159 0 0 Sporadic cancers P53_HUMAN 253 T N 1gzh A 159 0 0 Sporadic cancers P53_HUMAN 253 T P 1gzh A 159 0 0 Sporadic cancers P53_HUMAN 253 T S 1gzh A 159 0 0 Sporadic cancers P53_HUMAN 256 T I 2fej A 163 3.6 3.6 A brain tumor with no family history P53_HUMAN 256 T K 2fej A 163 3.6 3.6 Sporadic cancers P53_HUMAN 256 T P 2fej A 163 3.6 3.6 Sporadic cancers P53_HUMAN 256 T S 2fej A 163 3.6 3.6 Sporadic cancers P53_HUMAN 284 T A 2pcx A 197 22.4 22.4 Sporadic cancers P53_HUMAN 284 T I 2pcx A 197 22.4 22.4 Sporadic cancers P53_HUMAN 284 T K 2pcx A 197 22.4 22.4 Sporadic cancers P53_HUMAN 284 T P 2pcx A 197 22.4 22.4 Sporadic cancers P53_HUMAN 122 V L 2ac0 C 29 17.9 0 A sporadic cancer P53_HUMAN 143 V A 1gzh A 49 0 0 Sporadic cancers P53_HUMAN 143 V E 1gzh A 49 0 0 Sporadic cancers P53_HUMAN 143 V G 1gzh A 49 0 0 Sporadic cancers P53_HUMAN 143 V L 1gzh A 49 0 0 Sporadic cancers P53_HUMAN 143 V M 1gzh A 49 0 0 Sporadic cancers P53_HUMAN 147 V A 3ts8 B 54 14.1 14.1 Sporadic cancers P53_HUMAN 147 V D 3ts8 B 54 14.1 14.1 Sporadic cancers P53_HUMAN 147 V E 3ts8 B 54 14.1 14.1 Sporadic cancers P53_HUMAN 147 V F 3ts8 B 54 14.1 14.1 A sporadic cancer P53_HUMAN 147 V G 3ts8 B 54 14.1 14.1 Sporadic cancers P53_HUMAN 147 V I 3ts8 B 54 14.1 14.1 Sporadic cancers P53_HUMAN 157 V A 2fej A 64 0 0 Sporadic cancers P53_HUMAN 157 V D 2fej A 64 0 0 Sporadic cancers P53_HUMAN 157 V F 2fej A 64 0 0 Sporadic cancers P53_HUMAN 157 V G 2fej A 64 0 0 Sporadic cancers P53_HUMAN 157 V I 2fej A 64 0 0 Sporadic cancers P53_HUMAN 157 V L 2fej A 64 0 0 Sporadic cancers P53_HUMAN 172 V A 2pcx A 85 0.6 0.6 Sporadic cancers P53_HUMAN 172 V D 2pcx A 85 0.6 0.6 Sporadic cancers P53_HUMAN 172 V F 2pcx A 85 0.6 0.6 Li-Fraumeni syndrome (LFS) P53_HUMAN 172 V G 2pcx A 85 0.6 0.6 Sporadic cancers P53_HUMAN 172 V I 2pcx A 85 0.6 0.6 Sporadic cancers P53_HUMAN 173 V A 3ts8 B 80 2.4 2.4 Sporadic cancers P53_HUMAN 173 V E 3ts8 B 80 2.4 2.4 Sporadic cancers P53_HUMAN 173 V G 3ts8 B 80 2.4 2.4 Sporadic cancers P53_HUMAN 173 V L 3ts8 B 80 2.4 2.4 Sporadic cancers P53_HUMAN 173 V M 3ts8 B 80 2.4 2.4 Li-Fraumeni syndrome (LFS) P53_HUMAN 197 V E 2ac0 C 104 3.3 3.2 A familial cancer not matching LFS P53_HUMAN 197 V G 2ac0 C 104 3.3 3.2 Sporadic cancers P53_HUMAN 197 V L 2ac0 C 104 3.3 3.2 Sporadic cancers P53_HUMAN 197 V M 2ac0 C 104 3.3 3.2 Li-Fraumeni syndrome (LFS) P53_HUMAN 203 V A 2j1w A 110 2.9 2.9 Sporadic cancers P53_HUMAN 203 V E 2j1w A 110 2.9 2.9 Sporadic cancers P53_HUMAN 203 V L 2j1w A 110 2.9 2.9 Sporadic cancers P53_HUMAN 203 V M 2j1w A 110 2.9 2.9 Sporadic cancers P53_HUMAN 216 V A 2fej A 123 0 0 Sporadic cancers P53_HUMAN 216 V E 2fej A 123 0 0 Sporadic cancers P53_HUMAN 216 V G 2fej A 123 0 0 Sporadic cancers P53_HUMAN 216 V L 2fej A 123 0 0 Sporadic cancers P53_HUMAN 216 V M 2fej A 123 0 0 Sporadic cancers P53_HUMAN 217 V A 2bip A 124 0 0 Sporadic cancers P53_HUMAN 217 V E 2bip A 124 0 0 Sporadic cancers P53_HUMAN 217 V G 2bip A 124 0 0 Sporadic cancers P53_HUMAN 217 V I 2bip A 124 0 0 A sporadic cancer P53_HUMAN 217 V L 2bip A 124 0 0 Sporadic cancers P53_HUMAN 218 V A 3d0a B 125 0.5 0.5 Sporadic cancers P53_HUMAN 218 V E 3d0a B 125 0.5 0.5 Sporadic cancers P53_HUMAN 218 V G 3d0a B 125 0.5 0.5 Sporadic cancers P53_HUMAN 218 V L 3d0a B 125 0.5 0.5 Sporadic cancers P53_HUMAN 218 V M 3d0a B 125 0.5 0.5 Sporadic cancers P53_HUMAN 272 V A 3igl A 179 0.1 0.1 A familial cancer not matching LFS P53_HUMAN 272 V E 3igl A 179 0.1 0.1 Sporadic cancers P53_HUMAN 272 V G 3igl A 179 0.1 0.1 Sporadic cancers P53_HUMAN 272 V L 3igl A 179 0.1 0.1 Li-Fraumeni syndrome (LFS) P53_HUMAN 272 V M 3igl A 179 0.1 0.1 Sporadic cancers P53_HUMAN 274 V A 2pcx A 187 0 0 Sporadic cancers P53_HUMAN 274 V D 2pcx A 187 0 0 Sporadic cancers P53_HUMAN 274 V F 2pcx A 187 0 0 Sporadic cancers P53_HUMAN 274 V G 2pcx A 187 0 0 Sporadic cancers P53_HUMAN 274 V I 2pcx A 187 0 0 Sporadic cancers P53_HUMAN 274 V L 2pcx A 187 0 0 Sporadic cancers P53_HUMAN 97 V A 3q06 A 2 31.9 17 A sporadic cancer P53_HUMAN 97 V F 3q06 A 2 31.9 17 A sporadic cancer P53_HUMAN 97 V I 3q06 A 2 31.9 17 Familial cancer not matching LFS P53_HUMAN 146 W C 3ts8 A 53 15.9 15.9 A sporadic cancer P53_HUMAN 146 W G 3ts8 A 53 15.9 15.9 Sporadic cancers P53_HUMAN 146 W L 3ts8 A 53 15.9 15.9 Sporadic cancers P53_HUMAN 146 W R 3ts8 A 53 15.9 15.9 Sporadic cancers P53_HUMAN 146 W S 3ts8 A 53 15.9 15.9 Sporadic cancers P53_HUMAN 107 Y C 2fej A 14 17.4 17.4 A sporadic cancer P53_HUMAN 107 Y D 2fej A 14 17.4 17.4 Sporadic cancers P53_HUMAN 107 Y H 2fej A 14 17.4 17.4 A sporadic cancer P53_HUMAN 126 Y C 3d0a A 33 10.5 10.5 A familial cancer not matching LFS P53_HUMAN 126 Y D 3d0a A 33 10.5 10.5 Sporadic cancers P53_HUMAN 126 Y F 3d0a A 33 10.5 10.5 A sporadic cancer P53_HUMAN 126 Y H 3d0a A 33 10.5 10.5 Sporadic cancers P53_HUMAN 126 Y N 3d0a A 33 10.5 10.5 Sporadic cancers P53_HUMAN 126 Y S 3d0a A 33 10.5 10.5 Sporadic cancers P53_HUMAN 163 Y C 1kzy A 69 0.6 0.4 Li-Fraumeni syndrome (LFS) P53_HUMAN 163 Y D 1kzy A 69 0.6 0.4 Sporadic cancers P53_HUMAN 163 Y F 1kzy A 69 0.6 0.4 A sporadic cancer P53_HUMAN 163 Y H 1kzy A 69 0.6 0.4 Sporadic cancers P53_HUMAN 163 Y N 1kzy A 69 0.6 0.4 Sporadic cancers P53_HUMAN 163 Y S 1kzy A 69 0.6 0.4 Sporadic cancers P53_HUMAN 205 Y C 3ts8 B 112 10.6 10.6 Sporadic cancers P53_HUMAN 205 Y D 3ts8 B 112 10.6 10.6 Sporadic cancers P53_HUMAN 205 Y F 3ts8 B 112 10.6 10.6 Sporadic cancers P53_HUMAN 205 Y H 3ts8 B 112 10.6 10.6 Sporadic cancers P53_HUMAN 205 Y N 3ts8 B 112 10.6 10.6 Sporadic cancers P53_HUMAN 205 Y S 3ts8 B 112 10.6 10.6 Sporadic cancers P53_HUMAN 220 Y C 1kzy B 126 1.9 1.9 Li-Fraumeni syndrome (LFS) P53_HUMAN 220 Y D 1kzy B 126 1.9 1.9 Sporadic cancers P53_HUMAN 220 Y F 1kzy B 126 1.9 1.9 A sporadic cancer P53_HUMAN 220 Y H 1kzy B 126 1.9 1.9 Sporadic cancers P53_HUMAN 220 Y N 1kzy B 126 1.9 1.9 Sporadic cancers P53_HUMAN 220 Y S 1kzy B 126 1.9 1.9 A brain tumor with no family history P53_HUMAN 234 Y C 2fej A 141 0 0 Li-Fraumeni syndrome (LFS) P53_HUMAN 234 Y D 2fej A 141 0 0 Sporadic cancers P53_HUMAN 234 Y F 2fej A 141 0 0 A sporadic cancer P53_HUMAN 234 Y H 2fej A 141 0 0 Sporadic cancers P53_HUMAN 234 Y N 2fej A 141 0 0 Sporadic cancers P53_HUMAN 234 Y S 2fej A 141 0 0 Sporadic cancers P53_HUMAN 236 Y C 1gzh A 142 0 0 Li-Fraumeni syndrome (LFS) P53_HUMAN 236 Y D 1gzh A 142 0 0 Sporadic cancers P53_HUMAN 236 Y F 1gzh A 142 0 0 A sporadic cancer P53_HUMAN 236 Y H 1gzh A 142 0 0 Sporadic cancers P53_HUMAN 236 Y N 1gzh A 142 0 0 Sporadic cancers P53_HUMAN 236 Y S 1gzh A 142 0 0 Sporadic cancers P53_HUMAN 324 D E 3q06 D 201 57.6 17.6 Sporadic cancers P53_HUMAN 324 D Y 3q06 D 201 57.6 17.6 A sporadic cancer P53_HUMAN 184 D G 1tsr B 91 63.3 3.2 Sporadic cancers P53_HUMAN 184 D H 1tsr B 91 63.3 3.2 Sporadic cancers P53_HUMAN 184 D N 1tsr B 91 63.3 3.2 Sporadic cancers P53_HUMAN 184 D V 1tsr B 91 63.3 3.2 Sporadic cancers P53_HUMAN 184 D Y 1tsr B 91 63.3 3.2 Sporadic cancers P53_HUMAN 186 D E 2ac0 C 93 56.6 18.7 A sporadic cancer P53_HUMAN 186 D G 2ac0 C 93 56.6 18.7 Sporadic cancers P53_HUMAN 186 D H 2ac0 C 93 56.6 18.7 Sporadic cancers P53_HUMAN 186 D N 2ac0 C 93 56.6 18.7 Sporadic cancers P53_HUMAN 186 D V 2ac0 C 93 56.6 18.7 Sporadic cancers P53_HUMAN 186 D Y 2ac0 C 93 56.6 18.7 A sporadic cancer P53_HUMAN 224 E D 3kmd D 133 84.1 29.7 Sporadic cancers P53_HUMAN 224 E G 3kmd D 133 84.1 29.7 Sporadic cancers P53_HUMAN 224 E K 3kmd D 133 84.1 29.7 Sporadic cancers P53_HUMAN 224 E V 3kmd D 133 84.1 29.7 A sporadic cancer P53_HUMAN 187 G C 2ac0 C 94 84.6 41.5 Sporadic cancers P53_HUMAN 187 G D 2ac0 C 94 84.6 41.5 Sporadic cancers P53_HUMAN 187 G R 2ac0 C 94 84.6 41.5 Sporadic cancers P53_HUMAN 187 G S 2ac0 C 94 84.6 41.5 Sporadic cancers P53_HUMAN 187 G V 2ac0 C 94 84.6 41.5 Sporadic cancers P53_HUMAN 226 G A 3ts8 B 133 102.8 19 Sporadic cancers P53_HUMAN 226 G D 3ts8 B 133 102.8 19 Sporadic cancers P53_HUMAN 226 G S 3ts8 B 133 102.8 19 Sporadic cancers P53_HUMAN 226 G V 3ts8 B 133 102.8 19 Sporadic cancers P53_HUMAN 188 L P 2ac0 C 95 50.5 30 A sporadic cancer P53_HUMAN 188 L V 2ac0 C 95 50.5 30 Sporadic cancers P53_HUMAN 200 N D 3kmd D 109 24.6 19.2 Sporadic cancers P53_HUMAN 200 N I 3kmd D 109 24.6 19.2 Sporadic cancers P53_HUMAN 200 N K 3kmd D 109 24.6 19.2 A sporadic cancer P53_HUMAN 200 N S 3kmd D 109 24.6 19.2 Sporadic cancers P53_HUMAN 200 N T 3kmd D 109 24.6 19.2 A sporadic cancer P53_HUMAN 183 S L 1tup B 90 27.5 5.5 Sporadic cancers P53_HUMAN 183 S P 1tup B 90 27.5 5.5 Sporadic cancers P53_HUMAN 185 S C 1tsr B 92 52.8 7.2 A sporadic cancer P53_HUMAN 185 S G 1tsr B 92 52.8 7.2 Sporadic cancers P53_HUMAN 185 S I 1tsr B 92 52.8 7.2 Sporadic cancers P53_HUMAN 185 S N 1tsr B 92 52.8 7.2 A sporadic cancer P53_HUMAN 185 S R 1tsr B 92 52.8 7.2 Sporadic cancers P53_HUMAN 185 S T 1tsr B 92 52.8 7.2 A sporadic cancer P53_HUMAN 227 S C 3q06 C 132 42.5 19.3 Sporadic cancers P53_HUMAN 227 S F 3q06 C 132 42.5 19.3 Sporadic cancers P53_HUMAN 227 S P 3q06 C 132 42.5 19.3 A sporadic cancer P53_HUMAN 227 S T 3q06 C 132 42.5 19.3 Li-Fraumeni syndrome (LFS) P53_HUMAN 225 V A 3q06 B 130 102.3 47.5 Sporadic cancers P53_HUMAN 225 V D 3q06 B 130 102.3 47.5 A sporadic cancer P53_HUMAN 225 V F 3q06 B 130 102.3 47.5 Sporadic cancers P53_HUMAN 225 V G 3q06 B 130 102.3 47.5 A sporadic cancer P53_HUMAN 225 V I 3q06 B 130 102.3 47.5 Sporadic cancers P53_HUMAN 225 V L 3q06 B 130 102.3 47.5 A sporadic cancer P53_HUMAN 358 E D 1olh C 40 77.7 77.7 A sporadic cancer P53_HUMAN 358 E K 1olh C 40 77.7 77.7 A sporadic cancer P53_HUMAN 360 G V 2foo B 3 93.4 24.6 A sporadic cancer P53_HUMAN 319 K E 3q06 A 196 48.3 48.3 Sporadic cancers P53_HUMAN 319 K N 3q06 A 196 48.3 48.3 A sporadic cancer P53_HUMAN 319 K R 3q06 A 196 48.3 48.3 A sporadic cancer P53_HUMAN 320 K N 3q06 D 197 66.9 52 Sporadic cancers P53_HUMAN 321 K E 3q06 D 198 65.6 51.4 Kidney cancer P53_HUMAN 321 K R 3q06 D 198 65.6 51.4 A sporadic cancer P53_HUMAN 323 L M 3q06 C 200 55.9 48.4 A sporadic cancer P53_HUMAN 323 L P 3q06 C 200 55.9 48.4 A sporadic cancer P53_HUMAN 323 L R 3q06 C 200 55.9 48.4 A sporadic cancer P53_HUMAN 323 L V 3q06 C 200 55.9 48.4 A sporadic cancer P53_HUMAN 322 P L 3q01 A 199 45.6 42.3 Sporadic cancers P53_HUMAN 322 P R 3q01 A 199 45.6 42.3 Sporadic cancers P53_HUMAN 94 S L 3kmd A 3 7.3 0.3 Sporadic cancers P53_HUMAN 94 S T 3kmd A 3 7.3 0.3 Sporadic cancers P53_HUMAN 17 E D 2k8f B 17 59.5 30.7 A sporadic cancer P53_HUMAN 24 K N 2k8f B 24 59 59 A sporadic cancer P53_HUMAN 28 E A 2l14 B 16 86.8 53.9 A sporadic cancer P53_HUMAN 293 G A 2ac0 D 200 120.2 43.6 A sporadic cancer P53_HUMAN 293 G R 2ac0 D 200 120.2 43.6 Sporadic cancers P53_HUMAN 293 G V 2ac0 D 200 120.2 43.6 Sporadic cancers P53_HUMAN 293 G W 2ac0 D 200 120.2 43.6 A brain tumor with no family history P53_HUMAN 39 A P 2l14 B 27 30.1 7.9 A sporadic cancer P53_HUMAN 39 A V 2l14 B 27 30.1 7.9 A sporadic cancer P53_HUMAN 42 D Y 2b3g B 10 71 10.9 A sporadic cancer P53_HUMAN 48 D G 2b3g B 16 66.6 52.1 A sporadic cancer P53_HUMAN 49 D H 2l14 B 37 43.8 19.6 Sporadic cancers P53_HUMAN 49 D N 2l14 B 37 43.8 19.6 A sporadic cancer P53_HUMAN 49 D Y 2l14 B 37 43.8 19.6 Sporadic cancers P53_HUMAN 56 E K 2gs0 B 37 69.9 37.8 Sporadic cancers P53_HUMAN 56 E V 2gs0 B 37 69.9 37.8 A sporadic cancer P53_HUMAN 54 F L 2gs0 B 35 87.1 14.8 A sporadic cancer P53_HUMAN 54 F Y 2gs0 B 35 87.1 14.8 A sporadic cancer P53_HUMAN 35 L F 2l14 B 23 49.9 43.4 Sporadic cancers P53_HUMAN 43 L S 2l14 B 31 57.9 23.1 A sporadic cancer P53_HUMAN 45 L M 2l14 B 33 57.9 17.4 A sporadic cancer P53_HUMAN 44 M I 2l14 B 32 74.7 37.3 A sporadic cancer P53_HUMAN 44 M T 2l14 B 32 74.7 37.3 A sporadic cancer P53_HUMAN 44 M V 2l14 B 32 74.7 37.3 A sporadic cancer P53_HUMAN 34 P L 2b3g B 2 94 59 A sporadic cancer P53_HUMAN 36 P L 2l14 B 24 76.7 75 A sporadic cancer P53_HUMAN 47 P L 2l14 B 35 74.9 52.2 Sporadic cancers P53_HUMAN 52 Q H 2l14 B 40 45.3 37.8 A sporadic cancer P53_HUMAN 33 S T 2l14 B 21 47.5 5.7 A sporadic cancer P53_HUMAN 37 S P 2l14 B 25 92.1 42.2 A sporadic cancer P53_HUMAN 37 S T 2l14 B 25 92.1 42.2 A sporadic cancer P53_HUMAN 46 S F 2b3g B 14 45.1 45.1 Sporadic cancers P53_HUMAN 46 S P 2b3g B 14 45.1 45.1 Sporadic cancers P53_HUMAN 53 W C 2l14 B 41 21.8 3.1 Sporadic cancers P53_HUMAN 53 W G 2l14 B 41 21.8 3.1 A sporadic cancer P53_HUMAN 294 E A 2fej A 201 72.8 72.8 A sporadic cancer P53_HUMAN 294 E D 2fej A 201 72.8 72.8 Sporadic cancers P53_HUMAN 294 E G 2fej A 201 72.8 72.8 Sporadic cancers P53_HUMAN 294 E K 2fej A 201 72.8 72.8 Sporadic cancers P53_HUMAN 294 E Q 2fej A 201 72.8 72.8 Sporadic cancers P53_HUMAN 294 E V 2fej A 201 72.8 72.8 Sporadic cancers P53_HUMAN 296 H D 2fej A 203 90.8 90.8 Sporadic cancers P53_HUMAN 296 H L 2fej A 203 90.8 90.8 Sporadic cancers P53_HUMAN 296 H N 2fej A 203 90.8 90.8 Sporadic cancers P53_HUMAN 296 H P 2fej A 203 90.8 90.8 A sporadic cancer P53_HUMAN 296 H Q 2fej A 203 90.8 90.8 Sporadic cancers P53_HUMAN 296 H R 2fej A 203 90.8 90.8 A sporadic cancer P53_HUMAN 296 H Y 2fej A 203 90.8 90.8 Sporadic cancers P53_HUMAN 297 H D 2fej A 204 123.8 123.8 A sporadic cancer P53_HUMAN 297 H N 2fej A 204 123.8 123.8 A sporadic cancer P53_HUMAN 297 H P 2fej A 204 123.8 123.8 Sporadic cancers P53_HUMAN 297 H R 2fej A 204 123.8 123.8 Sporadic cancers P53_HUMAN 297 H Y 2fej A 204 123.8 123.8 Sporadic cancers P53_HUMAN 295 P H 2fej A 202 88.8 88.8 A sporadic cancer P53_HUMAN 295 P L 2fej A 202 88.8 88.8 Sporadic cancers P53_HUMAN 295 P R 2fej A 202 88.8 88.8 A sporadic cancer P53_HUMAN 295 P S 2fej A 202 88.8 88.8 Sporadic cancers P53_HUMAN 364 A P 2foj B 4 97.8 23.7 A sporadic cancer P53_HUMAN 364 A T 2foj B 4 97.8 23.7 A sporadic cancer P53_HUMAN 364 A V 2foj B 4 97.8 23.7 A sporadic cancer P53_HUMAN 365 H R 2foj B 5 86.5 29.7 A sporadic cancer P53_HUMAN 365 H Y 2foj B 5 86.5 29.7 A familial cancer not matching LFS P53_HUMAN 363 R K 2foj B 3 92.1 90.9 A sporadic cancer P53_HUMAN 366 S A 2foj B 6 83.3 38.4 A familial cancer not matching LFS P53_HUMAN 58 P Q 2l14 B 46 73.6 73.6 A sporadic cancer P53_HUMAN 58 P T 2l14 B 46 73.6 73.6 A sporadic cancer P53_HUMAN 7 D H 2k8f B 7 62.8 62.8 A sporadic cancer P53_HUMAN 11 E K 2k8f B 11 50.9 37.7 Sporadic cancers P53_HUMAN 11 E Q 2k8f B 11 50.9 37.7 Sporadic cancers P53_HUMAN 8 P S 2k8f B 8 82.5 79.5 A sporadic cancer P53_HUMAN 16 Q L 2k8f B 16 71.1 71.1 A sporadic cancer P53_HUMAN 5 Q H 2k8f B 5 87.6 87.6 A sporadic cancer P53_HUMAN 15 S R 2l14 B 3 15.1 15.1 A sporadic cancer P53_HUMAN 6 S L 2k8f B 6 52 52 A sporadic cancer P53_HUMAN 10 V I 2k8f B 10 70.8 57.2 A sporadic cancer P53_HUMAN 31 V I 2k8f B 31 105.9 51 Sporadic cancers P53_HUMAN 93 L M 3kmd A 2 64.5 24.6 A sporadic cancer P53_HUMAN 93 L P 3kmd A 2 64.5 24.6 A sporadic cancer P53_HUMAN 92 P A 2xwr A 4 61.2 61.2 A sporadic cancer P53_HUMAN 92 P L 2xwr A 4 61.2 61.2 A sporadic cancer P53_HUMAN 92 P S 2xwr A 4 61.2 61.2 A sporadic cancer P53_HUMAN 389 G W 3lw1 P 5 56 51.2 A sporadic cancer P53_HUMAN 273 R N 2ac0 C 180 33.9 11.5 A sporadic cancer P53_HUMAN 273 R Y 2ac0 C 180 33.9 11.5 A sporadic cancer P53_HUMAN 215 S K 2fej A 122 1.2 1.2 Sporadic cancers P53_HUMAN 173 V W 3ts8 B 80 2.4 2.4 A sporadic cancer P53_HUMAN 203 V W 2j1w A 110 2.9 2.9 A sporadic cancer P53_HUMAN 216 V W 2fej A 123 0 0 A sporadic cancer P53_HUMAN 126 Y G 3d0a A 33 10.5 10.5 A sporadic cancer P5CR1_HUMAN 179 A T 2ger D 181 50.2 0 Cutis laxa autosomal recessive type 2B (ARCL2B) P5CR1_HUMAN 257 A T 2ger D 259 25.6 0 Cutis laxa autosomal recessive type 2B (ARCL2B) P5CR1_HUMAN 206 G R 2izz D 228 14 1.2 Cutis laxa autosomal recessive type 2B (ARCL2B) P5CR1_HUMAN 206 G W 2izz D 228 14 1.2 Cutis laxa autosomal recessive type 2B (ARCL2B) P5CR1_HUMAN 119 R G 2izz D 141 2.4 2.4 Cutis laxa autosomal recessive type 2B (ARCL2B) P5CR1_HUMAN 119 R H 2izz D 141 2.4 2.4 Cutis laxa autosomal recessive type 2B (ARCL2B) P5CR1_HUMAN 251 R H 2izz E 273 58.7 2.1 Cutis laxa autosomal recessive type 2B (ARCL2B) P5CR1_HUMAN 266 R Q 2ger D 268 49.3 37.1 Cutis laxa autosomal recessive type 2B (ARCL2B) P5CS_HUMAN 784 H Y 2h5g A 452 59.9 14.9 Mental retardation-joint hypermobility-skin laxity with or without metabolic abnormalities (MRJHSL) P63_HUMAN 561 C G 2y9u A 19 0 0 Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) P63_HUMAN 549 I T 2y9t A 9 0 0 Ectodermal dysplasia Rapp-Hodgkin type (EDRH) P63_HUMAN 553 L F 2y9t A 13 0 0 Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) P63_HUMAN 560 S A 1rg6 A 21 62.9 62.9 Ovarian cancer P63_HUMAN 580 S P 2y9t A 40 35.7 35.7 Ectodermal dysplasia Rapp-Hodgkin type (EDRH) P63_HUMAN 187 A P 2rmn A 36 54.7 54.7 Lung carcinoma P63_HUMAN 308 C Y 2rmn A 157 0.1 0.1 Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome type 3 (EEC3) P63_HUMAN 345 C R 2rmn A 194 16.6 16.6 Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome type 3 (EEC3) P63_HUMAN 347 C S 2rmn A 196 36.2 36.2 Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome type 3 (EEC3) P63_HUMAN 351 D G 2rmn A 200 25.9 25.9 Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome type 3 (EEC3) P63_HUMAN 351 D H 2rmn A 200 25.9 25.9 Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome type 3 (EEC3) P63_HUMAN 232 K E 2rmn A 81 48.3 48.3 Split-hand/foot malformation 4 (SHFM4) P63_HUMAN 233 K E 2rmn A 82 63.2 63.2 Split-hand/foot malformation 4 (SHFM4) P63_HUMAN 279 P H 2rmn A 128 92.5 92.5 Colon cancer P63_HUMAN 348 P S 2rmn A 197 0.1 0.1 Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome type 3 (EEC3) P63_HUMAN 204 Q L 2rmn A 53 17.2 17.2 Cervical cancer P63_HUMAN 243 R Q 2rmn A 92 12.9 12.9 Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome type 3 (EEC3) P63_HUMAN 243 R W 2rmn A 92 12.9 12.9 Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome type 3 (EEC3) P63_HUMAN 266 R Q 2rmn A 115 22.6 22.6 Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome type 3 (EEC3) P63_HUMAN 318 R C 2rmn A 167 66.5 66.5 Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome type 3 (EEC3) P63_HUMAN 318 R H 2rmn A 167 66.5 66.5 Ectodermal dysplasia Rapp-Hodgkin type (EDRH) P63_HUMAN 318 R Q 2rmn A 167 66.5 66.5 Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome type 3 (EEC3) P63_HUMAN 319 R C 2rmn A 168 43.4 43.4 Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome type 3 (EEC3) P63_HUMAN 319 R H 2rmn A 168 43.4 43.4 Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome type 3 (EEC3) P63_HUMAN 319 R S 2rmn A 168 43.4 43.4 Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome type 3 (EEC3) P63_HUMAN 337 R Q 2rmn A 186 24.4 24.4 Acro-dermato-ungual-lacrimal-tooth syndrome (ADULT syndrome) P63_HUMAN 343 R Q 2rmn A 192 47.6 47.6 Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome type 3 (EEC3) P63_HUMAN 343 R W 2rmn A 192 47.6 47.6 Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome type 3 (EEC3) P63_HUMAN 352 R G 2rmn A 201 10.2 10.2 Ectodermal dysplasia Rapp-Hodgkin type (EDRH) P63_HUMAN 184 S L 2rmn A 33 56.8 56.8 Neck cancer P63_HUMAN 311 S N 2rmn A 160 61.6 61.6 Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome type 3 (EEC3) P85A_HUMAN 409 R Q 2iui B 89 31.9 31.9 Severe insulin resistance PAFA_HUMAN 281 Q R 3f96 A 235 1 1 Platelet-activating factor acetylhydrolase deficiency (PLA2G7 deficiency) PAFA_HUMAN 279 V F 3d59 A 233 0 0 Platelet-activating factor acetylhydrolase deficiency (PLA2G7 deficiency) PAHX_HUMAN 177 D G 2a1x A 147 13.3 13.3 Refsum disease (RD) PAHX_HUMAN 197 E Q 2a1x A 167 32.6 32.6 Refsum disease (RD) PAHX_HUMAN 257 F S 2a1x A 227 0.1 0.1 Refsum disease (RD) PAHX_HUMAN 204 G S 2a1x A 174 0.3 0.3 Refsum disease (RD) PAHX_HUMAN 175 H R 2a1x A 145 26 26 Refsum disease (RD) PAHX_HUMAN 220 H Y 2a1x A 190 9.5 9.5 Refsum disease (RD) PAHX_HUMAN 199 I F 2a1x A 169 0.1 0.1 Refsum disease (RD) PAHX_HUMAN 269 N H 2a1x A 239 0.3 0.3 Refsum disease (RD) PAHX_HUMAN 83 N Y 2a1x A 53 50.5 50.5 Refsum disease (RD) PAHX_HUMAN 173 P S 2a1x A 143 102.2 102.2 Refsum disease (RD) PAHX_HUMAN 176 Q K 2a1x A 146 0.6 0.6 Refsum disease (RD) PAHX_HUMAN 245 R Q 2a1x A 215 45.5 45.5 Refsum disease (RD) PAHX_HUMAN 275 R Q 2a1x A 245 1.6 1.6 Refsum disease (RD) PAHX_HUMAN 275 R W 2a1x A 245 1.6 1.6 Refsum disease (RD) PAHX_HUMAN 193 W R 2a1x A 163 3.4 3.4 Refsum disease (RD) PAK6_HUMAN 514 L R 2c30 A 154 0.1 0.1 A lung small cell carcinoma sample PAK7_HUMAN 704 G S 2f57 A 302 24 24 A metastatic melanoma sample PAK7_HUMAN 538 T N 2f57 A 136 45.1 45.1 A lung adenocarcinoma sample PAK7_HUMAN 604 V I 2f57 A 202 15.9 15.9 A metastatic melanoma sample PARK7_HUMAN 104 A T 1j42 A 104 0 0 Autosomal recessive early-onset Parkinson disease 7 (PARK7) PARK7_HUMAN 149 D A 3b36 A 152 34.4 34.4 Autosomal recessive early-onset Parkinson disease 7 (PARK7) PARK7_HUMAN 64 E D 1pdw C 64 52.9 52.9 Autosomal recessive early-onset Parkinson disease 7 (PARK7) PARK7_HUMAN 166 L P 3cz9 A 166 9.2 9.2 Autosomal recessive early-onset Parkinson disease 7 (PARK7) PARK7_HUMAN 26 M I 1p5f A 26 0 0 Autosomal recessive early-onset Parkinson disease 7 (PARK7) PAX3_HUMAN 238 F S 3cmy A 21 1.1 1.1 Waardenburg syndrome type 1 (WS1) PAX3_HUMAN 270 R C 3cmy A 53 14.4 14.4 Waardenburg syndrome type 1 (WS1) PAX3_HUMAN 271 R C 3cmy A 54 17.8 4.4 Waardenburg syndrome type 1 (WS1) PAX3_HUMAN 271 R G 3cmy A 54 17.8 4.4 Waardenburg syndrome type 1 (WS1) PAX3_HUMAN 271 R H 3cmy A 54 17.8 4.4 Waardenburg syndrome type 1 (WS1) PAX3_HUMAN 265 V F 3cmy A 48 47 15.1 Waardenburg syndrome type 1 (WS1) PAX3_HUMAN 266 W C 3cmy A 49 9.8 3.6 Waardenburg syndrome type 1 (WS1) PAX6_HUMAN 258 F S 2cue A 55 0 0 Ocular coloboma PAX6_HUMAN 242 R T 2cue A 39 82.9 82.9 Aniridia type II (AN2) PAX6_HUMAN 33 A P 6pax A 30 15.8 15.8 Aniridia type II (AN2) PAX6_HUMAN 79 A E 6pax A 76 18.4 11.7 Aniridia type II (AN2) PAX6_HUMAN 52 C R 6pax A 49 24.3 0 Aniridia type II (AN2) PAX6_HUMAN 18 G W 6pax A 15 74.7 0.2 Aniridia type II (AN2) PAX6_HUMAN 64 G V 6pax A 61 65.4 65.4 Foveal hypoplasia PAX6_HUMAN 73 G D 6pax A 70 98.9 3.8 Aniridia type II (AN2) PAX6_HUMAN 29 I S 6pax A 26 0 0 Aniridia type II (AN2) PAX6_HUMAN 29 I V 6pax A 26 0 0 Aniridia type II (AN2) PAX6_HUMAN 42 I S 6pax A 39 0 0 Aniridia type II (AN2) PAX6_HUMAN 56 I T 6pax A 53 4.9 4.4 Aniridia type II (AN2) PAX6_HUMAN 87 I K 6pax A 84 0 0 Aniridia type II (AN2) PAX6_HUMAN 87 I R 6pax A 84 0 0 Aniridia type II (AN2) PAX6_HUMAN 46 L R 6pax A 43 15.4 15.4 Aniridia type II (AN2) PAX6_HUMAN 17 N S 6pax A 14 84.1 33.2 Aniridia type II (AN2) PAX6_HUMAN 125 R C 6pax A 122 42.4 13.7 Foveal hypoplasia PAX6_HUMAN 128 R C 6pax A 125 63 27.1 Foveal hypoplasia PAX6_HUMAN 19 R P 6pax A 16 55.6 21.1 Aniridia type II (AN2) PAX6_HUMAN 26 R G 6pax A 23 4.7 1.5 Peters anomaly PAX6_HUMAN 44 R Q 6pax A 41 63 63 Aniridia type II (AN2) PAX6_HUMAN 119 S R 6pax A 116 45 10.4 Aniridia type II (AN2) PAX6_HUMAN 43 S P 6pax A 40 2.1 2.1 Aniridia type II (AN2) PAX6_HUMAN 63 T P 6pax A 60 61.4 61.4 Aniridia type II (AN2) PAX6_HUMAN 126 V D 6pax A 123 3.2 3.2 Ectopia pupillae PAX6_HUMAN 53 V D 6pax A 50 0 0 Foveal hypoplasia PAX6_HUMAN 53 V L 6pax A 50 0 0 Aniridia type II (AN2) PAX8_HUMAN 57 C Y 2k27 A 57 39.1 39.1 Congenital hypothyroidism non-goitrous type 2 (CHNG2) PAX8_HUMAN 62 L R 2k27 A 62 40.2 40.2 Congenital hypothyroidism non-goitrous type 2 (CHNG2) PAX8_HUMAN 40 Q P 2k27 A 40 64.8 64.8 Congenital hypothyroidism non-goitrous type 2 (CHNG2) PAX8_HUMAN 31 R H 2k27 A 31 22.4 22.4 Congenital hypothyroidism non-goitrous type 2 (CHNG2) PCCA_HUMAN 204 M K 2cqy A 36 36.4 36.4 Propionic acidemia type I (PA-1) PCSK9_HUMAN 374 D H 2xtj A 222 72.6 34.5 Familial hypercholesterolemia 3 (FH3) PCSK9_HUMAN 374 D Y 2xtj A 222 72.6 34.5 Familial hypercholesterolemia 3 (FH3) PCSK9_HUMAN 357 R H 2qtw B 205 31.7 31.7 Familial hypercholesterolemia 3 (FH3) PCSK9_HUMAN 496 R W 2pmw B 344 4.7 4.7 Familial hypercholesterolemia 3 (FH3) PCSK9_HUMAN 129 D G 3p5b P 69 67.2 67.2 Familial hypercholesterolemia 3 (FH3) PCSK9_HUMAN 127 S R 3gcw P 75 32.5 32.5 Familial hypercholesterolemia 3 (FH3) PCSK9_HUMAN 216 F L 3h42 B 64 22.6 20.1 Familial hypercholesterolemia 3 (FH3) PCSK9_HUMAN 215 R H 3h42 B 63 80.3 10.5 Familial hypercholesterolemia 3 (FH3) PCSK9_HUMAN 218 R S 3h42 B 66 63.9 63.9 Familial hypercholesterolemia 3 (FH3) PDCD6_HUMAN 123 G C 2zrt C 100 52.7 5.2 A breast cancer sample PDK2_HUMAN 342 G R 2bu7 A 329 7.4 4.5 A glioblastoma multiforme sample PDK3_HUMAN 219 E A 2pnr E 232 44.2 44.2 A head & Neck squamous cell carcinoma sample PEBB_HUMAN 100 P A 1e50 H 99 14.3 4.7 A breast cancer sample PEPD_HUMAN 276 D N 2iw2 B 277 5.6 5.6 Prolidase deficiency (PD) PEPD_HUMAN 278 G D 2iw2 B 279 0 0 Prolidase deficiency (PD) PEPD_HUMAN 448 G R 2iw2 B 449 0 0 Prolidase deficiency (PD) PEPD_HUMAN 184 R Q 2okn A 185 1.1 1.1 Prolidase deficiency (PD) PERM_HUMAN 251 M T 1cxp A 85 69.5 0 Myeloperoxidase deficiency (MPD) PERM_HUMAN 173 Y C 1d7w B 7 81.1 12.3 Myeloperoxidase deficiency (MPD) PERM_HUMAN 447 R Q 1dnu D 169 35.5 5 A colorectal cancer sample PERM_HUMAN 569 R W 1cxp C 291 35.3 0 Myeloperoxidase deficiency (MPD) PEX5_HUMAN 526 N K 1fch A 255 8.2 0 Adrenoleukodystrophy neonatal (NALD) PEX5_HUMAN 600 S W 1fch A 329 0 0 Infantile Refsum disease (IRD) PGDH_HUMAN 140 A P 2gdz A 142 5.8 5.8 Cranioosteoarthropathy (COA) PGK1_HUMAN 316 C R 3c3a A 319 2.4 2.4 Chronic hemolytic anemia PGK1_HUMAN 164 D V 2y3i A 164 0.3 0.3 Chronic hemolytic anemia PGK1_HUMAN 285 D V 2zgv A 288 5.5 5.5 Chronic hemolytic anemia PGK1_HUMAN 252 E A 2xe8 A 252 51.3 51.3 Chronic hemolytic anemia PGK1_HUMAN 158 G V 2wzc A 157 1.6 1.6 Chronic hemolytic anemia PGK1_HUMAN 206 R P 3c39 A 209 44.1 44.1 Chronic hemolytic anemia PH4H_HUMAN 246 A D 1kw0 A 144 4.4 4.4 Phenylketonuria (PKU) PH4H_HUMAN 259 A T 1dmw A 142 0 0 Phenylketonuria (PKU) PH4H_HUMAN 259 A V 1dmw A 142 0 0 Phenylketonuria (PKU) PH4H_HUMAN 300 A S 1dmw A 183 0 0 Phenylketonuria (PKU) PH4H_HUMAN 300 A V 1dmw A 183 0 0 Phenylketonuria (PKU) PH4H_HUMAN 309 A D 1dmw A 192 1 1 Phenylketonuria (PKU) PH4H_HUMAN 309 A V 1dmw A 192 1 1 Phenylketonuria (PKU) PH4H_HUMAN 322 A G 1kw0 A 220 12 12 Phenylketonuria (PKU) PH4H_HUMAN 322 A T 1kw0 A 220 12 12 Phenylketonuria (PKU) PH4H_HUMAN 342 A T 1dmw A 225 0 0 Phenylketonuria (PKU) PH4H_HUMAN 345 A S 2pah B 228 0.8 0.8 Phenylketonuria (PKU) PH4H_HUMAN 345 A T 2pah B 228 0.8 0.8 Phenylketonuria (PKU) PH4H_HUMAN 395 A G 1j8t A 293 0 0 Phenylketonuria (PKU) PH4H_HUMAN 395 A P 1j8t A 293 0 0 Phenylketonuria (PKU) PH4H_HUMAN 403 A V 1mmk A 301 1.6 1.6 Non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA) PH4H_HUMAN 217 C G 1j8u A 115 6.1 6.1 Phenylketonuria (PKU) PH4H_HUMAN 265 C G 1dmw A 148 0 0 Phenylketonuria (PKU) PH4H_HUMAN 334 C S 1mmk A 232 0.6 0.6 Phenylketonuria (PKU) PH4H_HUMAN 357 C G 1kw0 A 255 0.1 0.1 Phenylketonuria (PKU) PH4H_HUMAN 129 D Y 1pah A 13 14.9 14.9 Phenylketonuria (PKU) PH4H_HUMAN 143 D G 1mmt A 41 27.6 27.6 Phenylketonuria (PKU) PH4H_HUMAN 145 D V 1mmt A 43 45.8 45.8 Phenylketonuria (PKU) PH4H_HUMAN 151 D H 1mmk A 49 24.3 24.3 Phenylketonuria (PKU) PH4H_HUMAN 222 D V 1lrm A 120 64.2 64.2 Phenylketonuria (PKU) PH4H_HUMAN 282 D N 1dmw A 165 0 0 Phenylketonuria (PKU) PH4H_HUMAN 338 D Y 2pah A 221 99.6 99.6 Phenylketonuria (PKU) PH4H_HUMAN 394 D A 2pah B 277 25.6 25.6 Phenylketonuria (PKU) PH4H_HUMAN 394 D H 2pah B 277 25.6 25.6 Phenylketonuria (PKU) PH4H_HUMAN 415 D N 2pah B 298 19.3 10.3 Non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA) PH4H_HUMAN 178 E G 1tg2 A 62 85.5 85.5 Non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA) PH4H_HUMAN 183 E Q 1j8t A 81 5.6 5.6 Phenylketonuria (PKU) PH4H_HUMAN 205 E A 2pah B 88 17.6 17.6 Phenylketonuria (PKU) PH4H_HUMAN 221 E G 1dmw A 104 28 28 Phenylketonuria (PKU) PH4H_HUMAN 280 E K 1kw0 A 178 6.9 6.9 Phenylketonuria (PKU) PH4H_HUMAN 330 E D 1kw0 A 228 9.7 9.7 Phenylketonuria (PKU) PH4H_HUMAN 390 E G 1tdw A 274 48.8 48.8 Non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA) PH4H_HUMAN 161 F S 1kw0 A 59 3.1 3.1 Phenylketonuria (PKU) PH4H_HUMAN 233 F L 1kw0 A 131 12.2 12.2 Phenylketonuria (PKU) PH4H_HUMAN 240 F S 1dmw A 123 0 0 Phenylketonuria (PKU) PH4H_HUMAN 263 F L 1kw0 A 161 0 0 Phenylketonuria (PKU) PH4H_HUMAN 299 F C 2pah B 182 0.1 0.1 Phenylketonuria (PKU) PH4H_HUMAN 331 F L 1mmk A 229 8.4 8.4 Phenylketonuria (PKU) PH4H_HUMAN 410 F S 1mmk A 308 9.9 9.9 Phenylketonuria (PKU) PH4H_HUMAN 148 G S 1pah A 32 0 0 Phenylketonuria (PKU) PH4H_HUMAN 157 R N 3pah A 41 11.3 11.3 Phenylketonuria (PKU) PH4H_HUMAN 171 G A 1tg2 A 55 75.8 75.8 Phenylketonuria (PKU) PH4H_HUMAN 171 G R 1tg2 A 55 75.8 75.8 Phenylketonuria (PKU) PH4H_HUMAN 218 G V 1j8u A 116 20.4 20.4 Phenylketonuria (PKU) PH4H_HUMAN 239 G S 2pah B 122 34.5 9.4 Phenylketonuria (PKU) PH4H_HUMAN 247 G V 1mmt A 145 2.4 2.4 Phenylketonuria (PKU) PH4H_HUMAN 257 G C 1dmw A 140 0 0 Phenylketonuria (PKU) PH4H_HUMAN 337 G V 4pah A 221 77.3 77.3 Phenylketonuria (PKU) PH4H_HUMAN 344 G R 1dmw A 227 0 0 Phenylketonuria (PKU) PH4H_HUMAN 344 G V 1dmw A 227 0 0 Phenylketonuria (PKU) PH4H_HUMAN 146 H Y 1pah A 30 4 4 Phenylketonuria (PKU) PH4H_HUMAN 170 H D 1tg2 A 54 16.7 16.7 Hyperphenylalaninemia (HPA) PH4H_HUMAN 170 H R 1tg2 A 54 16.7 16.7 Phenylketonuria (PKU) PH4H_HUMAN 201 H R 1kw0 A 99 16.1 16.1 Phenylketonuria (PKU) PH4H_HUMAN 201 H Y 1kw0 A 99 16.1 16.1 Non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA) PH4H_HUMAN 264 H L 1kw0 A 162 1.7 1.7 Phenylketonuria (PKU) PH4H_HUMAN 271 H Y 1j8t A 169 15.5 15.5 Phenylketonuria (PKU) PH4H_HUMAN 164 I T 1j8u A 62 17.2 17.2 Phenylketonuria (PKU) PH4H_HUMAN 174 I T 2pah B 57 2.2 2.2 Phenylketonuria (PKU) PH4H_HUMAN 174 I V 2pah B 57 2.2 2.2 Phenylketonuria (PKU) PH4H_HUMAN 224 I M 2pah A 107 1.1 1.1 Phenylketonuria (PKU) PH4H_HUMAN 269 I L 2pah B 152 1 1 Non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA) PH4H_HUMAN 283 I F 1dmw A 166 0 0 Phenylketonuria (PKU) PH4H_HUMAN 283 I N 1dmw A 166 0 0 Phenylketonuria (PKU) PH4H_HUMAN 306 I V 1dmw A 189 0 0 Non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA) PH4H_HUMAN 318 I T 1mmk A 216 0 0 Phenylketonuria (PKU) PH4H_HUMAN 341 K R 1mmk A 239 15.8 15.8 Phenylketonuria (PKU) PH4H_HUMAN 341 K T 1mmk A 239 15.8 15.8 Phenylketonuria (PKU) PH4H_HUMAN 194 L P 1kw0 A 92 0 0 Phenylketonuria (PKU) PH4H_HUMAN 212 L P 1lrm A 110 34.9 34.9 Phenylketonuria (PKU) PH4H_HUMAN 213 L P 1j8t A 111 0 0 Phenylketonuria (PKU) PH4H_HUMAN 242 L F 1tg2 A 126 1.8 1.8 Phenylketonuria (PKU) PH4H_HUMAN 248 L P 1kw0 A 146 13.5 13.5 Phenylketonuria (PKU) PH4H_HUMAN 249 L F 6pah A 133 6.4 6.4 Phenylketonuria (PKU) PH4H_HUMAN 255 L S 2pah A 138 1.1 1.1 Phenylketonuria (PKU) PH4H_HUMAN 255 L V 2pah A 138 1.1 1.1 Phenylketonuria (PKU) PH4H_HUMAN 311 L P 2pah A 194 1.2 1.2 Phenylketonuria (PKU) PH4H_HUMAN 333 L F 1dmw A 216 0 0 Phenylketonuria (PKU) PH4H_HUMAN 347 L F 1dmw A 230 0 0 Phenylketonuria (PKU) PH4H_HUMAN 348 L V 1dmw A 231 0 0 Phenylketonuria (PKU) PH4H_HUMAN 276 M I 1mmk A 174 32.6 32.6 Phenylketonuria (PKU) PH4H_HUMAN 276 M V 1mmk A 174 32.6 32.6 Phenylketonuria (PKU) PH4H_HUMAN 167 N I 3pah A 51 64.4 64.4 Phenylketonuria (PKU) PH4H_HUMAN 167 N S 3pah A 51 64.4 64.4 Hyperphenylalaninemia (HPA) PH4H_HUMAN 207 N D 1tg2 A 91 27.6 27.6 Phenylketonuria (PKU) PH4H_HUMAN 207 N S 1tg2 A 91 27.6 27.6 Phenylketonuria (PKU) PH4H_HUMAN 173 P T 1kw0 A 71 66 66 Phenylketonuria (PKU) PH4H_HUMAN 175 P A 1kw0 A 73 39.8 39.8 Phenylketonuria (PKU) PH4H_HUMAN 211 P T 5pah A 95 41.2 41.2 Phenylketonuria (PKU) PH4H_HUMAN 225 P R 1j8u A 123 0.4 0.4 Phenylketonuria (PKU) PH4H_HUMAN 225 P T 1j8u A 123 0.4 0.4 Phenylketonuria (PKU) PH4H_HUMAN 244 P L 1mmk A 142 0.7 0.7 Phenylketonuria (PKU) PH4H_HUMAN 281 P L 1mmk A 179 13.3 13.3 Phenylketonuria (PKU) PH4H_HUMAN 314 P H 1dmw A 197 22.8 22.8 Phenylketonuria (PKU) PH4H_HUMAN 362 P T 2pah A 245 6.1 6.1 Phenylketonuria (PKU) PH4H_HUMAN 366 P H 2pah B 249 60.5 45.4 Phenylketonuria (PKU) PH4H_HUMAN 407 P S 1mmk A 305 45.3 45.3 Phenylketonuria (PKU) PH4H_HUMAN 160 Q P 1j8u A 58 48.1 48.1 Phenylketonuria (PKU) PH4H_HUMAN 304 Q R 2pah A 187 9.4 4 Phenylketonuria (PKU) PH4H_HUMAN 155 R P 1tg2 A 39 32 32 Phenylketonuria (PKU) PH4H_HUMAN 158 R Q 1tdw A 42 5 5 Phenylketonuria (PKU) PH4H_HUMAN 158 R W 1tdw A 42 5 5 Phenylketonuria (PKU) PH4H_HUMAN 169 R H 2pah A 52 37.7 37.7 Phenylketonuria (PKU) PH4H_HUMAN 176 R L 1tdw A 60 57.9 57.9 Non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA) PH4H_HUMAN 176 R P 1tdw A 60 57.9 57.9 Phenylketonuria (PKU) PH4H_HUMAN 241 R C 1j8t A 139 21.4 21.4 Non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA) PH4H_HUMAN 241 R H 1j8t A 139 21.4 21.4 Phenylketonuria (PKU) PH4H_HUMAN 241 R L 1j8t A 139 21.4 21.4 Phenylketonuria (PKU) PH4H_HUMAN 243 R Q 2pah A 126 2.5 2.5 Non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA) PH4H_HUMAN 252 R G 2pah A 135 17.5 17.5 Phenylketonuria (PKU) PH4H_HUMAN 252 R Q 2pah A 135 17.5 17.5 Phenylketonuria (PKU) PH4H_HUMAN 252 R W 2pah A 135 17.5 17.5 Phenylketonuria (PKU) PH4H_HUMAN 261 R P 2pah A 144 19.6 3.5 Phenylketonuria (PKU) PH4H_HUMAN 261 R Q 2pah A 144 19.6 3.5 Phenylketonuria (PKU) PH4H_HUMAN 270 R K 1kw0 A 168 2.9 2.9 Phenylketonuria (PKU) PH4H_HUMAN 270 R S 1kw0 A 168 2.9 2.9 Phenylketonuria (PKU) PH4H_HUMAN 297 R C 2pah B 180 67.5 22.4 Phenylketonuria (PKU) PH4H_HUMAN 297 R H 2pah B 180 67.5 22.4 Phenylketonuria (PKU) PH4H_HUMAN 408 R Q 2pah B 291 18.9 11.3 Phenylketonuria (PKU) PH4H_HUMAN 408 R W 2pah B 291 18.9 11.3 Phenylketonuria (PKU) PH4H_HUMAN 413 R P 2pah B 296 18.1 4.5 Non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA) PH4H_HUMAN 413 R S 2pah B 296 18.1 4.5 Phenylketonuria (PKU) PH4H_HUMAN 231 S F 2pah A 114 2.2 2.2 Phenylketonuria (PKU) PH4H_HUMAN 231 S P 2pah A 114 2.2 2.2 Phenylketonuria (PKU) PH4H_HUMAN 273 S F 2pah B 156 53.2 53.2 Phenylketonuria (PKU) PH4H_HUMAN 303 S P 1tg2 A 187 0 0 Phenylketonuria (PKU) PH4H_HUMAN 310 S F 1j8t A 208 0.7 0.7 Phenylketonuria (PKU) PH4H_HUMAN 349 S L 1mmk A 247 2.5 2.5 Phenylketonuria (PKU) PH4H_HUMAN 349 S P 1mmk A 247 2.5 2.5 Phenylketonuria (PKU) PH4H_HUMAN 350 S T 1mmk A 248 4.6 4.6 Phenylketonuria (PKU) PH4H_HUMAN 124 T I 1kw0 A 22 15.8 15.8 Phenylketonuria (PKU) PH4H_HUMAN 238 T P 2pah A 121 15 0.3 Phenylketonuria (PKU) PH4H_HUMAN 278 T A 1kw0 A 176 17.8 17.8 Phenylketonuria (PKU) PH4H_HUMAN 278 T N 1kw0 A 176 17.8 17.8 Phenylketonuria (PKU) PH4H_HUMAN 372 T S 1dmw A 255 0 0 Phenylketonuria (PKU) PH4H_HUMAN 380 T M 1mmt A 278 19.2 19.2 Non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA) PH4H_HUMAN 418 T P 2pah A 301 42.9 12.1 Phenylketonuria (PKU) PH4H_HUMAN 177 V L 1j8u A 75 9.6 9.6 Phenylketonuria (PKU) PH4H_HUMAN 190 V A 1kw0 A 88 0 0 Phenylketonuria (PKU) PH4H_HUMAN 230 V I 1dmw A 113 0 0 Non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA) PH4H_HUMAN 245 V A 1mmt A 143 3.5 3.5 Non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA) PH4H_HUMAN 245 V E 1mmt A 143 3.5 3.5 Phenylketonuria (PKU) PH4H_HUMAN 245 V L 1mmt A 143 3.5 3.5 Phenylketonuria (PKU) PH4H_HUMAN 388 V L 1j8t A 286 6.3 6.3 Phenylketonuria (PKU) PH4H_HUMAN 388 V M 1j8t A 286 6.3 6.3 Phenylketonuria (PKU) PH4H_HUMAN 154 Y N 2pah B 37 9 9 Phenylketonuria (PKU) PH4H_HUMAN 204 Y C 1kw0 A 102 58.1 58.1 Phenylketonuria (PKU) PH4H_HUMAN 206 Y D 1dmw A 89 0 0 Phenylketonuria (PKU) PH4H_HUMAN 277 Y C 1kw0 A 175 7.7 7.7 Phenylketonuria (PKU) PH4H_HUMAN 277 Y D 1kw0 A 175 7.7 7.7 Phenylketonuria (PKU) PH4H_HUMAN 325 Y C 2pah A 208 5.9 5.9 Phenylketonuria (PKU) PH4H_HUMAN 343 Y C 2pah B 226 0.6 0.6 Phenylketonuria (PKU) PH4H_HUMAN 377 Y C 1dmw A 260 34.9 34.9 Phenylketonuria (PKU) PH4H_HUMAN 386 Y C 1dmw A 269 0 0 Phenylketonuria (PKU) PH4H_HUMAN 387 Y H 1tdw A 271 0.5 0.5 Phenylketonuria (PKU) PH4H_HUMAN 414 Y C 2pah B 297 13.8 8.8 Phenylketonuria (PKU) PH4H_HUMAN 447 A D 2pah B 330 51.7 5.9 Phenylketonuria (PKU) PH4H_HUMAN 430 L P 2pah B 313 51.3 3.8 Phenylketonuria (PKU) PIM1_HUMAN 144 Y H 3ma3 A 54 26.9 26.9 A colorectal adenocarcinoma sample PITX2_HUMAN 134 K E 1yz8 P 52 62.6 3.6 Axenfeld-Rieger syndrome type 1 (RIEG1) PITX2_HUMAN 100 L Q 1yz8 P 18 0 0 Axenfeld-Rieger syndrome type 1 (RIEG1) PITX2_HUMAN 110 P L 2l7f P 28 1.9 1.9 Axenfeld-Rieger syndrome type 1 (RIEG1) PITX2_HUMAN 110 P R 2l7f P 28 1.9 1.9 Axenfeld-Rieger syndrome type 1 (RIEG1) PITX2_HUMAN 108 R H 1yz8 P 26 31.5 31.5 Ring dermoid of cornea (RDC) PITX2_HUMAN 115 R H 1yz8 P 33 3.2 0.2 Iridogoniodysgenesis type 2 (IRID2) PITX2_HUMAN 130 R W 1yz8 P 48 27.2 8.3 Iridogoniodysgenesis type 2 (IRID2) PITX2_HUMAN 136 R C 1yz8 P 54 21.2 11.5 Axenfeld-Rieger syndrome type 1 (RIEG1) PITX2_HUMAN 137 R P 1yz8 P 55 51.8 7.2 Axenfeld-Rieger syndrome type 1 (RIEG1) PITX2_HUMAN 114 T P 2l7m P 32 37.8 37.8 Axenfeld-Rieger syndrome type 1 (RIEG1) PITX2_HUMAN 129 V L 2l7f P 47 0 0 Axenfeld-Rieger syndrome type 1 (RIEG1) PK3CA_HUMAN 420 C R 2enq A 97 45 45 Cancer PK3CA_HUMAN 453 E Q 2enq A 130 91.5 91.5 Cancer PK3CA_HUMAN 343 Y C 2enq A 20 70.9 70.9 Cancer PKN1_HUMAN 185 R C 1urf A 67 65.4 65.4 A metastatic melanoma sample PKNX1_HUMAN 265 V I 1x2n A 13 124.6 124.6 A colorectal cancer sample PLMN_HUMAN 235 R H 1i5k B 55 1.7 1.7 Ligneous conjunctivitis PLMN_HUMAN 620 A T 1bml B 60 0 0 Thrombophilia PLMN_HUMAN 591 S P 1bml B 31 0 0 Thrombophilia PMM2_HUMAN 108 A V 2q4r A 108 64 5.9 Congenital disorder of glycosylation type 1A (CDG1A) PMM2_HUMAN 233 A T 2amy A 233 21 21 Congenital disorder of glycosylation type 1A (CDG1A) PMM2_HUMAN 103 C F 2amy A 103 0 0 Congenital disorder of glycosylation type 1A (CDG1A) PMM2_HUMAN 192 C G 2amy A 192 0 0 Congenital disorder of glycosylation type 1A (CDG1A) PMM2_HUMAN 241 C S 2q4r A 241 0.5 0.5 Congenital disorder of glycosylation type 1A (CDG1A) PMM2_HUMAN 9 C Y 2amy A 9 0 0 Congenital disorder of glycosylation type 1A (CDG1A) PMM2_HUMAN 148 D N 2q4r A 148 7.4 7.4 Congenital disorder of glycosylation type 1A (CDG1A) PMM2_HUMAN 185 D G 2q4r A 185 58.8 58.8 Congenital disorder of glycosylation type 1A (CDG1A) PMM2_HUMAN 188 D G 2amy A 188 16.4 16.4 Congenital disorder of glycosylation type 1A (CDG1A) PMM2_HUMAN 217 D E 2amy A 217 44.4 44.4 Congenital disorder of glycosylation type 1A (CDG1A) PMM2_HUMAN 223 D E 2q4r A 223 8.3 8.3 Congenital disorder of glycosylation type 1A (CDG1A) PMM2_HUMAN 223 D N 2q4r A 223 8.3 8.3 Congenital disorder of glycosylation type 1A (CDG1A) PMM2_HUMAN 65 D Y 2q4r A 65 7.8 7.8 Congenital disorder of glycosylation type 1A (CDG1A) PMM2_HUMAN 139 E K 2amy A 139 69.5 69.5 Congenital disorder of glycosylation type 1A (CDG1A) PMM2_HUMAN 151 E G 2q4r A 151 51.4 51.4 Congenital disorder of glycosylation type 1A (CDG1A) PMM2_HUMAN 197 E A 2amy A 197 44.4 44.4 Congenital disorder of glycosylation type 1A (CDG1A) PMM2_HUMAN 93 E A 2q4r A 93 59.8 26.8 Congenital disorder of glycosylation type 1A (CDG1A) PMM2_HUMAN 119 F L 2amy A 119 25.5 1.5 Congenital disorder of glycosylation type 1A (CDG1A) PMM2_HUMAN 11 F C 2amy A 11 0 0 Congenital disorder of glycosylation type 1A (CDG1A) PMM2_HUMAN 144 F L 2q4r A 144 0.5 0.5 Congenital disorder of glycosylation type 1A (CDG1A) PMM2_HUMAN 157 F S 2amy A 157 0 0 Congenital disorder of glycosylation type 1A (CDG1A) PMM2_HUMAN 172 F V 2amy A 172 9 9 Congenital disorder of glycosylation type 1A (CDG1A) PMM2_HUMAN 183 F S 2amy A 183 15.1 15.1 Congenital disorder of glycosylation type 1A (CDG1A) PMM2_HUMAN 206 F S 2q4r A 206 0 0 Congenital disorder of glycosylation type 1A (CDG1A) PMM2_HUMAN 117 G R 2amy A 117 23.4 0 Congenital disorder of glycosylation type 1A (CDG1A) PMM2_HUMAN 15 G E 2q4r A 15 26.4 26.4 Congenital disorder of glycosylation type 1A (CDG1A) PMM2_HUMAN 175 G R 2q4r A 175 49 49 Congenital disorder of glycosylation type 1A (CDG1A) PMM2_HUMAN 176 G V 2amy A 176 78.7 78.7 Congenital disorder of glycosylation type 1A (CDG1A) PMM2_HUMAN 208 G A 2q4r A 208 0 0 Congenital disorder of glycosylation type 1A (CDG1A) PMM2_HUMAN 228 G C 2amy A 228 30.9 30.9 Congenital disorder of glycosylation type 1A (CDG1A) PMM2_HUMAN 228 G R 2amy A 228 30.9 30.9 Congenital disorder of glycosylation type 1A (CDG1A) PMM2_HUMAN 195 H R 2amy A 195 15.1 15.1 Congenital disorder of glycosylation type 1A (CDG1A) PMM2_HUMAN 218 H L 2q4r A 218 16.6 16.6 Congenital disorder of glycosylation type 1A (CDG1A) PMM2_HUMAN 120 I T 2amy A 120 20.7 0.2 Congenital disorder of glycosylation type 1A (CDG1A) PMM2_HUMAN 132 I F 2q4r A 132 0.2 0.2 Congenital disorder of glycosylation type 1A (CDG1A) PMM2_HUMAN 132 I N 2q4r A 132 0.2 0.2 Congenital disorder of glycosylation type 1A (CDG1A) PMM2_HUMAN 132 I T 2q4r A 132 0.2 0.2 Congenital disorder of glycosylation type 1A (CDG1A) PMM2_HUMAN 153 I T 2amy A 153 14.3 14.3 Congenital disorder of glycosylation type 1A (CDG1A) PMM2_HUMAN 104 L V 2amy A 104 51 0.1 Congenital disorder of glycosylation type 1A (CDG1A) PMM2_HUMAN 32 L R 2amy A 32 0.1 0.1 Congenital disorder of glycosylation type 1A (CDG1A) PMM2_HUMAN 101 N K 2q4r A 101 59.1 15.6 Congenital disorder of glycosylation type 1A (CDG1A) PMM2_HUMAN 216 N I 2q4r A 216 106 106 Congenital disorder of glycosylation type 1A (CDG1A) PMM2_HUMAN 216 N S 2q4r A 216 106 106 Congenital disorder of glycosylation type 1A (CDG1A) PMM2_HUMAN 113 P L 2amy A 113 53.7 40.2 Congenital disorder of glycosylation type 1A (CDG1A) PMM2_HUMAN 131 P A 2amy A 131 0 0 Congenital disorder of glycosylation type 1A (CDG1A) PMM2_HUMAN 20 P S 2q4r A 20 66.3 66.3 Congenital disorder of glycosylation type 1A (CDG1A) PMM2_HUMAN 69 P S 2amy A 69 0 0 Congenital disorder of glycosylation type 1A (CDG1A) PMM2_HUMAN 177 Q H 2q4r A 177 22.7 22.7 Congenital disorder of glycosylation type 1A (CDG1A) PMM2_HUMAN 37 Q H 2q4r A 37 81 81 Congenital disorder of glycosylation type 1A (CDG1A) PMM2_HUMAN 123 R Q 2amy A 123 31.6 31.6 Congenital disorder of glycosylation type 1A (CDG1A) PMM2_HUMAN 141 R C 2amy A 141 30.3 30.3 Congenital disorder of glycosylation type 1A (CDG1A) PMM2_HUMAN 141 R H 2amy A 141 30.3 30.3 Congenital disorder of glycosylation type 1A (CDG1A) PMM2_HUMAN 162 R W 2q4r A 162 53.5 53.5 Congenital disorder of glycosylation type 1A (CDG1A) PMM2_HUMAN 238 R G 2q4r A 238 16.1 16.1 Congenital disorder of glycosylation type 1A (CDG1A) PMM2_HUMAN 238 R P 2q4r A 238 16.1 16.1 Congenital disorder of glycosylation type 1A (CDG1A) PMM2_HUMAN 226 T S 2amy A 226 4.8 4.8 Congenital disorder of glycosylation type 1A (CDG1A) PMM2_HUMAN 237 T M 2amy A 237 0.1 0.1 Congenital disorder of glycosylation type 1A (CDG1A) PMM2_HUMAN 237 T R 2amy A 237 0.1 0.1 Congenital disorder of glycosylation type 1A (CDG1A) PMM2_HUMAN 129 V M 2amy A 129 0 0 Congenital disorder of glycosylation type 1A (CDG1A) PMM2_HUMAN 231 V M 2amy A 231 4.5 4.5 Congenital disorder of glycosylation type 1A (CDG1A) PMM2_HUMAN 44 V A 2q4r A 44 0.2 0.2 Congenital disorder of glycosylation type 1A (CDG1A) PMM2_HUMAN 44 V L 2q4r A 44 0.2 0.2 Congenital disorder of glycosylation type 1A (CDG1A) PMM2_HUMAN 67 V M 2amy A 67 0.4 0.4 Congenital disorder of glycosylation type 1A (CDG1A) PMM2_HUMAN 106 Y C 2q4r A 106 13.3 13.3 Congenital disorder of glycosylation type 1A (CDG1A) PMM2_HUMAN 229 Y S 2amy A 229 34.5 34.5 Congenital disorder of glycosylation type 1A (CDG1A) PMM2_HUMAN 64 Y C 2amy A 64 0.4 0.4 Congenital disorder of glycosylation type 1A (CDG1A) PMM2_HUMAN 76 Y C 2amy A 76 12.6 12.6 Congenital disorder of glycosylation type 1A (CDG1A) PNPH_HUMAN 174 A P 1m73 E 173 0 0 Nucleoside phosphorylase deficiency (NP deficiency) PNPH_HUMAN 128 D G 1pf7 E 128 0.8 0.8 Nucleoside phosphorylase deficiency (NP deficiency) PNPH_HUMAN 89 E K 3phb Y 124 25.5 3.4 Nucleoside phosphorylase deficiency (NP deficiency) PNPH_HUMAN 234 R P 1ulb A 234 21.3 21.3 Nucleoside phosphorylase deficiency (NP deficiency) PNPH_HUMAN 192 Y C 1pf7 E 192 0 0 Nucleoside phosphorylase deficiency (NP deficiency) PNPO_HUMAN 229 R W 1nrg A 229 16.7 5.7 Pyridoxine-5'-phosphate oxidase deficiency (PNPO deficiency) PPARG_HUMAN 388 F L 3b1m A 166 0 0 Familial partial lipodystrophy type 3 (FPLD3) PPARG_HUMAN 314 Q P 3dzu D 228 2.7 2.7 Colon cancer PPARG_HUMAN 316 R H 2qmv A 82 19.2 19.2 Colon cancer PPARG_HUMAN 425 R C 3gbk B 191 2.2 2.2 Familial partial lipodystrophy type 3 (FPLD3) PPGB_HUMAN 440 F V 1ivy B 412 34.7 5.4 Galactosialidosis PPGB_HUMAN 49 Q R 1ivy B 21 2.3 2.3 Galactosialidosis PPGB_HUMAN 90 S L 1ivy A 62 1.7 1.7 Galactosialidosis PPGB_HUMAN 65 W R 1ivy A 37 0 0 Galactosialidosis PPGB_HUMAN 249 Y N 1ivy A 221 7.9 7.9 Galactosialidosis PPGB_HUMAN 395 Y C 1ivy B 367 0.3 0.3 Galactosialidosis PPLA_HUMAN 9 R C 1zll A 9 47.2 47.2 Cardiomyopathy dilated type 1P (CMD1P) PPT1_HUMAN 79 D G 3gro B 59 0.6 0.6 Neuronal ceroid lipofuscinosis type 1 (CLN1) PPT1_HUMAN 108 G R 3gro B 88 0.4 0.4 Neuronal ceroid lipofuscinosis type 1 (CLN1) PPT1_HUMAN 250 G V 3gro A 230 64.7 64.7 Neuronal ceroid lipofuscinosis type 1 (CLN1) PPT1_HUMAN 42 G E 3gro A 22 21.3 19 Neuronal ceroid lipofuscinosis type 1 (CLN1) PPT1_HUMAN 39 H Q 3gro B 19 2.6 2.6 Neuronal ceroid lipofuscinosis type 1 (CLN1) PPT1_HUMAN 219 L Q 3gro A 199 0 0 Neuronal ceroid lipofuscinosis type 1 (CLN1) PPT1_HUMAN 177 Q E 3gro A 157 1.3 1.3 Neuronal ceroid lipofuscinosis type 1 (CLN1) PPT1_HUMAN 122 R W 3gro A 102 0 0 Neuronal ceroid lipofuscinosis type 1 (CLN1) PPT1_HUMAN 75 T P 3gro B 55 55.4 43.8 Neuronal ceroid lipofuscinosis type 1 (CLN1) PPT1_HUMAN 181 V L 3gro A 161 0 0 Neuronal ceroid lipofuscinosis type 1 (CLN1) PPT1_HUMAN 181 V M 3gro A 161 0 0 Neuronal ceroid lipofuscinosis type 1 (CLN1) PPT1_HUMAN 38 W C 3gro B 18 0.8 0.8 Neuronal ceroid lipofuscinosis type 1 (CLN1) PPT1_HUMAN 109 Y D 3gro B 89 0.3 0.3 Neuronal ceroid lipofuscinosis type 1 (CLN1) PPT1_HUMAN 247 Y H 3gro A 227 13.9 13.9 Neuronal ceroid lipofuscinosis type 1 (CLN1) PRDX5_HUMAN 157 F L 1h4o E 104 0 0 A breast cancer sample PRG2_HUMAN 179 R C 2brs A 74 76.4 76.4 A colorectal cancer sample PRIO_HUMAN 178 D N 1e1p A 54 14.6 14.6 Creutzfeldt-Jakob disease (CJD) PRIO_HUMAN 202 D N 1e1g A 78 0 0 Gerstmann-Straussler disease (GSD) PRIO_HUMAN 196 E K 1e1w A 72 25.1 25.1 Creutzfeldt-Jakob disease (CJD) PRIO_HUMAN 200 E K 1e1j A 76 65.1 65.1 Creutzfeldt-Jakob disease (CJD) PRIO_HUMAN 211 E Q 1e1u A 87 13.4 13.4 Creutzfeldt-Jakob disease (CJD) PRIO_HUMAN 198 F S 1fkc A 109 6.5 6.5 Gerstmann-Straussler disease (GSD) PRIO_HUMAN 131 G V 3hj5 A 42 12.6 3.3 Gerstmann-Straussler disease (GSD) PRIO_HUMAN 187 H R 1e1j A 63 5.6 5.6 Gerstmann-Straussler disease (GSD) PRIO_HUMAN 212 Q P 1e1p A 88 25.2 25.2 Gerstmann-Straussler disease (GSD) PRIO_HUMAN 217 Q R 1qm1 A 130 0.7 0.7 Gerstmann-Straussler disease (GSD) PRIO_HUMAN 208 R H 1e1s A 84 33.3 33.3 Creutzfeldt-Jakob disease (CJD) PRIO_HUMAN 180 V I 1e1j A 56 1.3 1.3 Creutzfeldt-Jakob disease (CJD) PRIO_HUMAN 203 V I 1e1g A 79 12.2 12.2 Creutzfeldt-Jakob disease (CJD) PRIO_HUMAN 210 V I 1e1g A 86 0 0 Creutzfeldt-Jakob disease (CJD) PRKN2_HUMAN 46 A P 1iyf A 51 49.9 49.9 Parkinson disease (PD) PRKN2_HUMAN 37 P L 1iyf A 42 32 32 Autosomal recessive early onset Parkinson disease 2 (PARK2) PRKN2_HUMAN 33 R Q 1iyf A 38 66.3 66.3 Parkinson disease (PD) PRKN2_HUMAN 42 R P 1iyf A 47 54.6 54.6 Parkinson disease (PD) PRKN2_HUMAN 15 V M 1iyf A 20 6.4 6.4 Parkinson disease (PD) PRKN2_HUMAN 328 G E 2jmo A 24 25.6 25.6 Parkinson disease (PD) PRKN2_HUMAN 334 R C 2jmo A 30 63.6 63.6 Parkinson disease (PD) PRKN2_HUMAN 351 T P 2jmo A 47 49.1 49.1 Autosomal recessive early onset Parkinson disease 2 (PARK2) PROC_HUMAN 426 C Y 3f6u H 215 30 28 Protein C deficiency autosomal dominant (ADPROCD) PROC_HUMAN 401 D N 1aut C 190 0.3 0.3 Protein C deficiency autosomal dominant (ADPROCD) PROC_HUMAN 324 G R 1aut C 113 18.8 18.8 Protein C deficiency autosomal dominant (ADPROCD) PROC_HUMAN 334 G S 1aut C 123 64.9 64.9 Protein C deficiency autosomal recessive (ARPROCD) PROC_HUMAN 392 G R 1aut C 181 66.4 66.4 Protein C deficiency autosomal dominant (ADPROCD) PROC_HUMAN 418 G D 1aut C 207 0 0 Protein C deficiency autosomal recessive (ARPROCD) PROC_HUMAN 423 G S 3f6u H 212 44.4 0.6 Protein C deficiency autosomal dominant (ADPROCD) PROC_HUMAN 243 I T 1aut C 32 8.7 8.7 Protein C deficiency autosomal dominant (ADPROCD) PROC_HUMAN 289 P L 1aut C 78 76 76 Protein C deficiency autosomal recessive (ARPROCD) PROC_HUMAN 321 P L 1aut C 110 4 2.9 Protein C deficiency autosomal dominant (ADPROCD) PROC_HUMAN 369 P L 1aut C 158 40.7 40.7 Protein C deficiency autosomal dominant (ADPROCD) PROC_HUMAN 220 R Q 3f6u H 9 37.4 36.6 Protein C deficiency autosomal dominant (ADPROCD) PROC_HUMAN 220 R W 3f6u H 9 37.4 36.6 Protein C deficiency autosomal dominant (ADPROCD) PROC_HUMAN 272 R C 1aut C 61 67.6 67.6 Protein C deficiency autosomal dominant (ADPROCD) PROC_HUMAN 328 R C 1aut C 117 68.7 29.2 Protein C deficiency autosomal dominant (ADPROCD) PROC_HUMAN 328 R H 1aut C 117 68.7 29.2 Protein C deficiency autosomal recessive (ARPROCD) PROC_HUMAN 340 T M 1aut C 129 5.8 5.8 Protein C deficiency autosomal dominant (ADPROCD) PROC_HUMAN 436 T N 1aut C 225 1.6 1.6 Protein C deficiency autosomal dominant (ADPROCD) PROC_HUMAN 367 V A 3f6u H 156 1.9 1.9 Protein C deficiency autosomal recessive (ARPROCD) PROC_HUMAN 444 W C 1aut C 233 18.9 18.9 Protein C deficiency autosomal dominant (ADPROCD) PROC_HUMAN 441 Y H 1aut C 230 2.7 2.7 Protein C deficiency autosomal dominant (ADPROCD) PROC_HUMAN 178 A P 3f6u L 88 48.6 48.6 Protein C deficiency autosomal recessive (ARPROCD) PROC_HUMAN 114 G R 1aut L 31 65.7 65.7 Protein C deficiency autosomal dominant (ADPROCD) PROC_HUMAN 145 G R 1aut L 62 0.8 0.8 Protein C deficiency autosomal dominant (ADPROCD) PROC_HUMAN 57 R W 3jtc D 15 15.1 15.1 Protein C deficiency autosomal dominant (ADPROCD) PROP_HUMAN 298 G V 1w0r A 271 96.2 96.2 Properdin deficiency (PFD) PROP_HUMAN 343 Q R 1w0r A 316 41.6 41.6 Properdin deficiency (PFD) PROP_HUMAN 100 R W 1w0r A 73 17.6 17.6 Properdin deficiency (PFD) PROP_HUMAN 414 Y D 1w0r A 387 38.9 38.9 Properdin deficiency (PFD) PROS_HUMAN 241 C S 1z6c A 42 48 48 Protein S deficiency (PROS1D) PROS_HUMAN 247 C G 1z6c A 48 17.4 17.4 Protein S deficiency (PROS1D) PROS_HUMAN 265 C R 1z6c A 66 0.1 0.1 Protein S deficiency (PROS1D) PROS_HUMAN 265 C W 1z6c A 66 0.1 0.1 Protein S deficiency (PROS1D) PROS_HUMAN 267 C S 1z6c A 68 1.7 1.7 Protein S deficiency (PROS1D) PROS_HUMAN 243 D N 1z6c A 44 35.6 35.6 Protein S deficiency (PROS1D) PROS_HUMAN 245 D G 1z6c A 46 41.4 41.4 Protein S deficiency (PROS1D) PROS_HUMAN 204 E G 1z6c A 5 15.4 15.4 Protein S deficiency (PROS1D) PROS_HUMAN 249 E K 1z6c A 50 63.5 63.5 Protein S deficiency (PROS1D) PROS_HUMAN 258 N S 1z6c A 59 21.5 21.5 Protein S deficiency (PROS1D) PROS_HUMAN 233 R K 1z6c A 34 23.7 23.7 Protein S deficiency (PROS1D) PROS_HUMAN 266 Y C 1z6c A 67 16.8 16.8 Protein S deficiency (PROS1D) PRP31_HUMAN 194 A E 2ozb B 121 0 0 Retinitis pigmentosa type 11 (RP11) PRP31_HUMAN 216 A P 2ozb B 143 0 0 Retinitis pigmentosa type 11 (RP11) PRPS1_HUMAN 190 A V 2h06 A 190 0 0 Phosphoribosylpyrophosphate synthetase superactivity (PRPS1 superactivity) PRPS1_HUMAN 183 D H 2hcr B 183 74.4 14.6 Phosphoribosylpyrophosphate synthetase superactivity (PRPS1 superactivity) PRPS1_HUMAN 203 D H 2hcr A 203 90.9 90.9 A breast cancer sample PRPS1_HUMAN 52 D H 2hcr A 52 3.9 3.9 Phosphoribosylpyrophosphate synthetase superactivity (PRPS1 superactivity) PRPS1_HUMAN 43 E D 2hcr A 43 65.2 33.6 Charcot-Marie-Tooth disease X-linked recessive type 5 (CMTX5) PRPS1_HUMAN 193 H Q 2h06 A 193 32 1.1 Phosphoribosylpyrophosphate synthetase superactivity (PRPS1 superactivity) PRPS1_HUMAN 231 H D 2h07 A 231 49.6 49.6 A colorectal cancer sample PRPS1_HUMAN 129 L I 2h08 B 129 5 5 Phosphoribosylpyrophosphate synthetase superactivity (PRPS1 superactivity) PRPS1_HUMAN 152 L P 2h08 B 152 3.9 3.9 ARTS syndrome (ARTS) PRPS1_HUMAN 115 M T 2h06 A 115 26.5 0 Charcot-Marie-Tooth disease X-linked recessive type 5 (CMTX5) PRPS1_HUMAN 114 N S 2h08 B 114 48.5 11.6 Phosphoribosylpyrophosphate synthetase superactivity (PRPS1 superactivity) PRPS1_HUMAN 133 Q P 2h08 A 133 74.9 8.1 ARTS syndrome (ARTS) PRPS1_HUMAN 219 V G 2hcr B 219 3.5 3.5 A breast cancer sample PTEN_HUMAN 121 A G 1d5r A 115 0.5 0.5 Squamous cell carcinoma of the head and neck (HNSCC) PTEN_HUMAN 121 A P 1d5r A 115 0.5 0.5 Glioblastoma PTEN_HUMAN 34 A D 1d5r A 28 0 0 Bannayan-Zonana syndrome (BZS) PTEN_HUMAN 105 C F 1d5r A 99 0 0 Bannayan-Zonana syndrome (BZS) PTEN_HUMAN 105 C Y 1d5r A 99 0 0 Bannayan-Zonana syndrome (BZS) PTEN_HUMAN 124 C R 1d5r A 118 3.2 3.2 Cowden disease (CD) PTEN_HUMAN 124 C S 1d5r A 118 3.2 3.2 Cowden disease (CD) PTEN_HUMAN 136 C Y 1d5r A 130 0 0 Cowden disease (CD) PTEN_HUMAN 71 C Y 1d5r A 65 4.9 4.9 Cowden disease (CD) PTEN_HUMAN 107 D Y 1d5r A 101 23.9 23.9 Bannayan-Zonana syndrome (BZS) PTEN_HUMAN 19 D N 1d5r A 13 72.5 72.5 Malignant melanoma PTEN_HUMAN 252 D G 1d5r A 246 9.1 9.1 Macrocephaly/autism syndrome PTEN_HUMAN 331 D G 1d5r A 302 13.3 13.3 Cowden disease (CD) PTEN_HUMAN 241 F S 1d5r A 235 1.7 1.7 Macrocephaly/autism syndrome PTEN_HUMAN 341 F V 1d5r A 312 0.5 0.5 Cowden disease (CD) PTEN_HUMAN 347 F L 1d5r A 318 1.8 1.8 Cowden disease (CD) PTEN_HUMAN 129 G E 1d5r A 123 12.5 12.5 Cowden disease (CD) PTEN_HUMAN 129 G R 1d5r A 123 12.5 12.5 Glioblastoma PTEN_HUMAN 132 G V 1d5r A 126 0 0 One patient with clinical findings suggesting hamartoma tumor syndrome PTEN_HUMAN 165 G E 1d5r A 159 5.1 5.1 Cowden disease (CD) PTEN_HUMAN 165 G R 1d5r A 159 5.1 5.1 Glioblastoma PTEN_HUMAN 165 G V 1d5r A 159 5.1 5.1 Cowden disease (CD) PTEN_HUMAN 36 G E 1d5r A 30 2.1 2.1 Glioma PTEN_HUMAN 123 H R 1d5r A 117 0 0 Cowden disease (CD) PTEN_HUMAN 123 H Y 1d5r A 117 0 0 Endometrial cancer PTEN_HUMAN 93 H R 1d5r A 87 62.5 62.5 Macrocephaly/autism syndrome PTEN_HUMAN 93 H Y 1d5r A 87 62.5 62.5 Cowden disease (CD) PTEN_HUMAN 135 I V 1d5r A 129 0 0 Bannayan-Zonana syndrome (BZS) PTEN_HUMAN 67 I R 1d5r A 61 0 0 Cowden disease (CD) PTEN_HUMAN 342 K N 1d5r A 313 34.6 34.6 Cowden disease (CD) PTEN_HUMAN 112 L P 1d5r A 106 11.1 11.1 Cowden disease (CD) PTEN_HUMAN 345 L Q 1d5r A 316 1.5 1.5 Glioblastoma PTEN_HUMAN 42 L R 1d5r A 36 42.9 42.9 Glioma PTEN_HUMAN 57 L W 1d5r A 51 0.1 0.1 Glioma PTEN_HUMAN 70 L P 1d5r A 64 0 0 Cowden disease (CD) PTEN_HUMAN 134 M L 1d5r A 128 0 0 Prostate cancer PTEN_HUMAN 35 M R 1d5r A 29 0 0 Cowden disease (CD) PTEN_HUMAN 246 P L 1d5r A 240 46.9 46.9 Bannayan-Zonana syndrome (BZS) PTEN_HUMAN 130 R L 1d5r A 124 3.3 3.3 Cowden disease (CD) PTEN_HUMAN 130 R Q 1d5r A 124 3.3 3.3 Cowden disease (CD) PTEN_HUMAN 15 R S 1d5r A 9 46.5 46.5 Glioma PTEN_HUMAN 234 R Q 1d5r A 228 51.2 51.2 Oligodendroglioma PTEN_HUMAN 47 R G 1d5r A 41 79.5 79.5 Cowden disease (CD) PTEN_HUMAN 170 S R 1d5r A 164 0.7 0.7 Bannayan-Zonana syndrome (BZS) PTEN_HUMAN 167 T P 1d5r A 161 29.2 29.2 Breast cancer PTEN_HUMAN 119 V L 1d5r A 113 3.8 3.8 Multiple cancers PTEN_HUMAN 158 V L 1d5r A 152 18.3 18.3 Multiple cancers PTEN_HUMAN 217 V I 1d5r A 211 0 0 Malignant melanoma PTEN_HUMAN 343 V E 1d5r A 314 0 0 Cowden disease (CD) PTEN_HUMAN 155 Y C 1d5r A 149 0 0 Cowden disease (CD) PTEN_HUMAN 68 Y H 1d5r A 62 0 0 Bannayan-Zonana syndrome (BZS) PTH1R_HUMAN 132 P L 3l2j B 474 5.3 5.3 Chondrodysplasia Blomstrand type (BOCD) PTH1R_HUMAN 150 R C 3h3g A 496 46 44.3 Enchondromatosis PTN11_HUMAN 465 A T 2shp A 461 2.6 2.6 LEOPARD syndrome PTN11_HUMAN 72 A G 2shp A 72 0 0 Noonan syndrome 1 (NS1) PTN11_HUMAN 72 A S 2shp A 72 0 0 Noonan syndrome 1 (NS1) PTN11_HUMAN 72 A T 2shp A 72 0 0 Juvenile myelomonocytic leukemia (JMML) PTN11_HUMAN 72 A V 2shp A 72 0 0 Juvenile myelomonocytic leukemia (JMML) PTN11_HUMAN 71 F K 2shp A 71 0.8 0.8 Acute myeloid leukemia PTN11_HUMAN 106 D A 2shp A 106 26.4 26.4 Noonan syndrome 1 (NS1) PTN11_HUMAN 61 D G 2shp A 61 19.5 19.5 Noonan syndrome 1 (NS1) PTN11_HUMAN 61 D N 2shp A 61 19.5 19.5 Noonan syndrome 1 (NS1) PTN11_HUMAN 61 D V 2shp A 61 19.5 19.5 Juvenile myelomonocytic leukemia (JMML) PTN11_HUMAN 61 D Y 2shp A 61 19.5 19.5 Juvenile myelomonocytic leukemia (JMML) PTN11_HUMAN 139 E D 2shp A 139 42.3 42.3 Noonan syndrome 1 (NS1) PTN11_HUMAN 69 E K 2shp A 69 28.1 28.1 Juvenile myelomonocytic leukemia (JMML) PTN11_HUMAN 69 E Q 2shp A 69 28.1 28.1 Noonan syndrome 1 (NS1) PTN11_HUMAN 76 E A 2shp A 76 4 4 Juvenile myelomonocytic leukemia (JMML) PTN11_HUMAN 76 E D 2shp A 76 4 4 Noonan syndrome 1 (NS1) PTN11_HUMAN 76 E G 2shp A 76 4 4 Juvenile myelomonocytic leukemia (JMML) PTN11_HUMAN 76 E K 2shp A 76 4 4 Juvenile myelomonocytic leukemia (JMML) PTN11_HUMAN 76 E V 2shp A 76 4 4 Juvenile myelomonocytic leukemia (JMML) PTN11_HUMAN 285 F L 2shp A 285 0.4 0.4 Noonan syndrome 1 (NS1) PTN11_HUMAN 285 F S 2shp A 285 0.4 0.4 Noonan syndrome 1 (NS1) PTN11_HUMAN 468 G A 2shp A 464 0.5 0.5 LEOPARD syndrome PTN11_HUMAN 507 G A 2shp A 503 3.8 3.8 Juvenile myelomonocytic leukemia (JMML) PTN11_HUMAN 507 G R 2shp A 503 3.8 3.8 Juvenile myelomonocytic leukemia (JMML) PTN11_HUMAN 60 G A 2shp A 60 2 2 Noonan syndrome 1 (NS1) PTN11_HUMAN 282 I V 2shp A 282 1.9 1.9 Noonan syndrome 1 (NS1) PTN11_HUMAN 309 I V 3o5x A 49 19.1 19.1 Noonan syndrome 1 (NS1) PTN11_HUMAN 508 M V 2shp A 504 0 0 Noonan syndrome 1 (NS1) PTN11_HUMAN 308 N D 2shp A 308 0 0 Noonan syndrome 1 (NS1) PTN11_HUMAN 308 N S 2shp A 308 0 0 Noonan syndrome 1 (NS1) PTN11_HUMAN 58 N K 2shp A 58 7.5 7.5 Noonan syndrome 1 (NS1) PTN11_HUMAN 256 Q R 2shp A 256 12.2 12.2 Noonan syndrome 1 (NS1) PTN11_HUMAN 510 Q P 2shp A 506 2.5 2.5 LEOPARD syndrome PTN11_HUMAN 510 Q R 2shp A 506 2.5 2.5 Noonan syndrome 1 (NS1) PTN11_HUMAN 514 Q P 2shp A 510 2.2 2.2 LEOPARD syndrome PTN11_HUMAN 79 Q P 2shp A 79 34.3 34.3 Noonan syndrome 1 (NS1) PTN11_HUMAN 79 Q R 2shp A 79 34.3 34.3 Noonan syndrome 1 (NS1) PTN11_HUMAN 502 R L 2shp A 498 2.1 2.1 LEOPARD syndrome PTN11_HUMAN 502 R W 2shp A 498 2.1 2.1 LEOPARD syndrome PTN11_HUMAN 505 R K 3o5x A 241 0.5 0.5 Noonan syndrome 1 (NS1) PTN11_HUMAN 506 S T 2shp A 502 2 2 Noonan syndrome 1 (NS1) PTN11_HUMAN 2 T I 2shp A 2 32.4 32.4 Noonan syndrome 1 (NS1) PTN11_HUMAN 415 T M 3o5x A 151 10.3 10.3 Noonan syndrome 1 (NS1) PTN11_HUMAN 42 T A 3tkz A 45 3.9 0 Noonan syndrome 1 (NS1) PTN11_HUMAN 472 T M 3o5x A 208 0 0 LEOPARD syndrome PTN11_HUMAN 73 T I 2shp A 73 8.4 8.4 Noonan syndrome 1 (NS1) PTN11_HUMAN 279 Y C 2shp A 279 6.5 6.5 LEOPARD syndrome PTN11_HUMAN 279 Y S 2shp A 279 6.5 6.5 LEOPARD syndrome PTN11_HUMAN 62 Y D 2shp A 62 13.7 13.7 Noonan syndrome 1 (NS1) PTN11_HUMAN 63 Y C 2shp A 63 7.1 7.1 Noonan syndrome 1 (NS1) PTPRT_HUMAN 1118 A P 2ooq B 253 55.5 55.5 A colorectal cancer PTPRT_HUMAN 927 D G 2ooq B 62 0.2 0.2 A colorectal cancer PTPRT_HUMAN 1128 N I 2ooq A 263 28.6 28.6 A colorectal cancer PTPRT_HUMAN 987 Q K 2ooq A 122 0.5 0.5 A colorectal cancer PTPS_HUMAN 116 D G 3i2b G 112 45.6 32.9 BH4-deficient hyperphenylalaninemia type A (HPABH4A) PTPS_HUMAN 136 D G 3i2b A 132 88.7 47.6 BH4-deficient hyperphenylalaninemia type A (HPABH4A) PTPS_HUMAN 136 D V 3i2b A 132 88.7 47.6 BH4-deficient hyperphenylalaninemia type A (HPABH4A) PTPS_HUMAN 96 D N 3i2b A 92 54.9 31.6 BH4-deficient hyperphenylalaninemia type A (HPABH4A) PTPS_HUMAN 35 E G 3i2b G 31 23.6 23.6 BH4-deficient hyperphenylalaninemia type A (HPABH4A) PTPS_HUMAN 100 F V 3i2b E 96 0.3 0.3 BH4-deficient hyperphenylalaninemia type A (HPABH4A) PTPS_HUMAN 114 I V 3i2b A 110 0 0 BH4-deficient hyperphenylalaninemia type A (HPABH4A) PTPS_HUMAN 129 K E 3i2b E 125 26.5 26.5 BH4-deficient hyperphenylalaninemia type A (HPABH4A) PTPS_HUMAN 26 L F 3i2b G 22 9.5 7.4 BH4-deficient hyperphenylalaninemia type A (HPABH4A) PTPS_HUMAN 36 N K 3i2b H 32 1.1 1.1 BH4-deficient hyperphenylalaninemia type A (HPABH4A) PTPS_HUMAN 47 N D 3i2b G 43 105.2 41.1 BH4-deficient hyperphenylalaninemia type A (HPABH4A) PTPS_HUMAN 52 N S 3i2b G 48 74.1 10.9 BH4-deficient hyperphenylalaninemia type A (HPABH4A) PTPS_HUMAN 87 P L 3i2b D 83 24.7 24.7 BH4-deficient hyperphenylalaninemia type A (HPABH4A) PTPS_HUMAN 87 P S 3i2b D 83 24.7 24.7 BH4-deficient hyperphenylalaninemia type A (HPABH4A) PTPS_HUMAN 16 R C 3i2b E 12 12.9 7.9 BH4-deficient hyperphenylalaninemia type A (HPABH4A) PTPS_HUMAN 25 R G 3i2b G 21 25.3 25.3 BH4-deficient hyperphenylalaninemia type A (HPABH4A) PTPS_HUMAN 25 R Q 3i2b G 21 25.3 25.3 BH4-deficient hyperphenylalaninemia type A (HPABH4A) PTPS_HUMAN 106 T M 3i2b G 102 20.9 2.4 BH4-deficient hyperphenylalaninemia type A (HPABH4A) PTPS_HUMAN 67 T M 3i2b A 63 60.8 15.3 BH4-deficient hyperphenylalaninemia type A (HPABH4A) PTPS_HUMAN 124 V L 3i2b E 120 98.1 98.1 BH4-deficient hyperphenylalaninemia type A (HPABH4A) PTPS_HUMAN 56 V M 3i2b H 52 17.8 10.2 BH4-deficient hyperphenylalaninemia type A (HPABH4A) PTPS_HUMAN 70 V D 3i2b G 66 15.9 13.6 BH4-deficient hyperphenylalaninemia type A (HPABH4A) PTPS_HUMAN 97 V M 3i2b E 93 3.9 3.9 BH4-deficient hyperphenylalaninemia type A (HPABH4A) PTPS_HUMAN 99 Y C 3i2b D 95 39.2 39.2 BH4-deficient hyperphenylalaninemia type A (HPABH4A) PUR8_HUMAN 268 D N 2j91 A 290 20.2 0 Adenylosuccinase deficiency (ADSL deficiency) PUR8_HUMAN 422 D Y 2j91 B 444 21.4 21.4 Adenylosuccinase deficiency (ADSL deficiency) PUR8_HUMAN 430 D N 2j91 B 452 17.8 17.8 Adenylosuccinase deficiency (ADSL deficiency) PUR8_HUMAN 72 I V 2vd6 A 94 8.2 8.2 Adenylosuccinase deficiency (ADSL deficiency) PUR8_HUMAN 246 K E 2j91 A 268 60.1 1 Adenylosuccinase deficiency (ADSL deficiency) PUR8_HUMAN 311 L V 2j91 B 333 1 1 Adenylosuccinase deficiency (ADSL deficiency) PUR8_HUMAN 423 L V 2j91 D 445 0 0 Adenylosuccinase deficiency (ADSL deficiency) PUR8_HUMAN 26 M L 2j91 A 48 0 0 Adenylosuccinase deficiency (ADSL deficiency) PUR8_HUMAN 100 P A 2j91 C 122 65.7 65.7 Adenylosuccinase deficiency (ADSL deficiency) PUR8_HUMAN 318 P L 2vd6 D 340 2.6 2.6 Adenylosuccinase deficiency (ADSL deficiency) PUR8_HUMAN 141 R W 2j91 C 163 19.6 19.6 Adenylosuccinase deficiency (ADSL deficiency) PUR8_HUMAN 190 R Q 2vd6 A 212 22.9 22.9 Adenylosuccinase deficiency (ADSL deficiency) PUR8_HUMAN 194 R C 2j91 A 216 22.8 11.6 Adenylosuccinase deficiency (ADSL deficiency) PUR8_HUMAN 303 R C 2vd6 B 325 25.9 23 Adenylosuccinase deficiency (ADSL deficiency) PUR8_HUMAN 374 R W 2vd6 A 396 57.9 57.9 Adenylosuccinase deficiency (ADSL deficiency) PUR8_HUMAN 396 R C 2j91 C 418 44.2 44.2 Adenylosuccinase deficiency (ADSL deficiency) PUR8_HUMAN 396 R H 2j91 C 418 44.2 44.2 Adenylosuccinase deficiency (ADSL deficiency) PUR8_HUMAN 426 R H 2vd6 D 448 24.3 24.3 Adenylosuccinase deficiency (ADSL deficiency) PUR8_HUMAN 452 R P 2j91 A 474 59.8 4.6 Adenylosuccinase deficiency (ADSL deficiency) PUR8_HUMAN 395 S R 2vd6 B 417 37.4 37.4 Adenylosuccinase deficiency (ADSL deficiency) PUR8_HUMAN 438 S P 2j91 C 460 88.8 88.8 Adenylosuccinase deficiency (ADSL deficiency) PUR8_HUMAN 447 S P 2vd6 B 469 56.1 56.1 Adenylosuccinase deficiency (ADSL deficiency) PUR8_HUMAN 450 T S 2vd6 A 472 12.3 8.1 Adenylosuccinase deficiency (ADSL deficiency) PUR8_HUMAN 364 V M 2j91 C 386 7 7 Adenylosuccinase deficiency (ADSL deficiency) PUR8_HUMAN 114 Y H 2j91 B 136 0.5 0.5 Adenylosuccinase deficiency (ADSL deficiency) PUR9_HUMAN 426 K R 1pl0 C 426 2.3 2.3 AICA-ribosuria PUS10_HUMAN 484 T I 2v9k A 485 8.1 8.1 A colorectal cancer sample PYC_HUMAN 610 A T 3bg3 A 150 14.5 14.5 Pyruvate carboxylase deficiency (PC deficiency) PYC_HUMAN 743 M I 3bg3 A 283 2.8 2.8 Pyruvate carboxylase deficiency (PC deficiency) PYC_HUMAN 583 R L 3bg3 C 123 0.1 0.1 Pyruvate carboxylase deficiency (PC deficiency) PYC_HUMAN 631 R Q 3bg3 A 171 10.1 10.1 Pyruvate carboxylase deficiency (PC deficiency) PYGL_HUMAN 339 N S 1em6 B 339 0 0 Glycogen storage disease type 6 (GSD6) PYGL_HUMAN 377 N K 2qll A 377 1 1 Glycogen storage disease type 6 (GSD6) PYGM_HUMAN 660 A D 1z8d A 660 0 0 Glycogen storage disease type 5 (GSD5) PYGM_HUMAN 687 A P 1z8d A 687 0.1 0.1 Glycogen storage disease type 5 (GSD5) PYGM_HUMAN 704 A V 1z8d A 704 6.8 6.8 Glycogen storage disease type 5 (GSD5) PYGM_HUMAN 349 E K 1z8d A 349 0.2 0.2 Glycogen storage disease type 5 (GSD5) PYGM_HUMAN 655 E K 1z8d A 655 13.6 13.6 Glycogen storage disease type 5 (GSD5) PYGM_HUMAN 205 G S 1z8d A 205 34.4 34.4 Glycogen storage disease type 5 (GSD5) PYGM_HUMAN 686 G R 1z8d A 686 5.5 5.5 Glycogen storage disease type 5 (GSD5) PYGM_HUMAN 543 K T 1z8d A 543 2.5 2.5 Glycogen storage disease type 5 (GSD5) PYGM_HUMAN 116 L P 1z8d A 116 40.2 2.4 Glycogen storage disease type 5 (GSD5) PYGM_HUMAN 292 L P 1z8d A 292 33.5 19.9 Glycogen storage disease type 5 (GSD5) PYGM_HUMAN 397 L P 1z8d A 397 0 0 Glycogen storage disease type 5 (GSD5) PYGM_HUMAN 685 N Y 1z8d A 685 0.7 0.7 Glycogen storage disease type 5 (GSD5) PYGM_HUMAN 666 Q E 1z8d A 666 4.6 4.6 Glycogen storage disease type 5 (GSD5) PYGM_HUMAN 194 R W 1z8d A 194 21.3 3.2 Glycogen storage disease type 5 (GSD5) PYGM_HUMAN 602 R W 1z8d A 602 1.3 1.3 Glycogen storage disease type 5 (GSD5) PYGM_HUMAN 488 T N 1z8d A 488 0.4 0.4 Glycogen storage disease type 5 (GSD5) PYGM_HUMAN 798 W R 1z8d A 798 5.5 5.5 Glycogen storage disease type 5 (GSD5) QORX_HUMAN 180 M K 2j8z A 202 32 32 A breast cancer sample RAB7A_HUMAN 157 K N 1t91 A 157 44.2 44.2 Charcot-Marie-Tooth disease type 2B (CMT2B) RAB7A_HUMAN 129 L F 1yhn A 129 39.6 39.6 Charcot-Marie-Tooth disease type 2B (CMT2B) RAB7A_HUMAN 161 N T 1t91 A 161 31.6 31.6 Charcot-Marie-Tooth disease type 2B (CMT2B) RAB7A_HUMAN 162 V M 1yhn A 162 0.8 0.8 Charcot-Marie-Tooth disease type 2B (CMT2B) RAC2_HUMAN 57 D N 2w2t A 63 9 2.1 Neutrophil immunodeficiency syndrome RAC2_HUMAN 29 P L 2w2t A 35 16.3 16.3 A breast cancer sample RAD51_HUMAN 150 R Q 1n0w A 54 48 48 Breast cancer (BC) RAF1_HUMAN 261 P A 3nkx Q 7 75.6 37.4 Noonan syndrome type 5 (NS5) RAF1_HUMAN 261 P L 3nkx Q 7 75.6 37.4 Noonan syndrome type 5 (NS5) RAF1_HUMAN 261 P S 3nkx Q 7 75.6 37.4 Noonan syndrome type 5 (NS5) RAF1_HUMAN 256 R S 3iqj P 2 42.7 25.1 Noonan syndrome type 5 (NS5) RAF1_HUMAN 257 S L 3cu8 P 2 83.1 3 Noonan syndrome type 5 (NS5) RAF1_HUMAN 260 T R 3nkx P 6 88.3 14.5 Noonan syndrome type 5 (NS5) RAF1_HUMAN 263 V A 3cu8 P 8 100.7 69.7 Noonan syndrome type 5 (NS5) RAF1_HUMAN 486 D G 3omv A 175 22.1 22.1 Noonan syndrome type 5 (NS5) RAF1_HUMAN 486 D N 3omv A 175 22.1 22.1 Noonan syndrome type 5 (NS5) RAF1_HUMAN 613 L V 3omv A 302 22.7 22.7 LEOPARD syndrome type 2 (LEOPARD syndrome-2) RAF1_HUMAN 612 S T 3omv B 301 67.2 67.2 Noonan syndrome type 5 (NS5) RAF1_HUMAN 491 T I 3omv A 180 41 41 Noonan syndrome type 5 (NS5) RAF1_HUMAN 491 T R 3omv A 180 41 41 Noonan syndrome type 5 (NS5) RASA1_HUMAN 401 I V 2gsb A 68 0.5 0.5 Basal cell carcinomas RASA1_HUMAN 400 K E 2gsb A 67 72.2 72.2 Basal cell carcinomas RASA1_HUMAN 398 R L 2gsb A 65 48.6 48.6 Basal cell carcinomas RASH_HUMAN 146 A T 1nvx R 146 0.8 0.8 Costello syndrome RASH_HUMAN 146 A V 1nvx R 146 0.8 0.8 Costello syndrome RASH_HUMAN 63 E K 2cld X 63 3.6 3.6 Congenital myopathy with excess of muscle spindles (CMEMS) RASH_HUMAN 12 G A 1wq1 R 12 46.6 8.9 Costello syndrome RASH_HUMAN 12 G C 1wq1 R 12 46.6 8.9 Costello syndrome RASH_HUMAN 12 G E 1wq1 R 12 46.6 8.9 Costello syndrome RASH_HUMAN 12 G S 1wq1 R 12 46.6 8.9 Congenital myopathy with excess of muscle spindles (CMEMS) RASH_HUMAN 12 G V 1wq1 R 12 46.6 8.9 Congenital myopathy with excess of muscle spindles (CMEMS) RASH_HUMAN 13 G C 1wq1 R 13 82.1 21.8 Costello syndrome RASH_HUMAN 13 G D 1wq1 R 13 82.1 21.8 Costello syndrome RASH_HUMAN 117 K R 1wq1 R 117 30.5 23.3 Costello syndrome RASH_HUMAN 22 Q K 1nvx Q 22 5.3 0 Congenital myopathy with excess of muscle spindles (CMEMS) RASH_HUMAN 61 Q K 1wq1 R 61 41 2.2 Follicular thyroid carcinoma samples RASH_HUMAN 61 Q L 1wq1 R 61 41 2.2 Melanoma RASH_HUMAN 58 T I 1gnr A 58 0.1 0.1 Costello syndrome RASK_HUMAN 146 A T 3gft A 164 4.2 4.2 A colorectal cancer sample RASK_HUMAN 59 A T 3gft A 77 6.5 6.5 Bladder cancer RASK_HUMAN 12 G A 3gft A 30 40 40 A colorectal cancer sample RASK_HUMAN 12 G C 3gft A 30 40 40 Lung carcinoma RASK_HUMAN 12 G D 3gft A 30 40 40 Pancreatic carcinoma RASK_HUMAN 12 G R 3gft A 30 40 40 Lung cancer RASK_HUMAN 12 G S 3gft A 30 40 40 Lung carcinoma RASK_HUMAN 12 G V 3gft A 30 40 40 Lung carcinoma RASK_HUMAN 13 G D 3gft A 31 38.5 38.5 A breast carcinoma cell line RASK_HUMAN 60 G R 3gft A 78 22.2 22.2 Cardiofaciocutaneous syndrome (CFC syndrome) RASK_HUMAN 117 K N 3gft A 135 26.8 26.8 A colorectal cancer sample RASK_HUMAN 34 P R 3gft A 52 74.5 74.5 Cardiofaciocutaneous syndrome (CFC syndrome) RASK_HUMAN 61 Q H 3gft A 79 53.5 53.5 Lung carcinoma RASK_HUMAN 61 Q R 3gft A 79 53.5 53.5 A colorectal cancer sample RASK_HUMAN 58 T I 3gft A 76 0.5 0.5 Noonan syndrome 3 (NS3) RASK_HUMAN 14 V I 3gft A 32 0.2 0.2 Noonan syndrome 3 (NS3) RASN_HUMAN 12 G C 3con A 30 83.9 83.9 Leukemia RASN_HUMAN 13 G R 3con A 31 72.4 72.4 Colorectal cancer RB_HUMAN 706 C Y 1gh6 B 267 0 0 Childhood cancer retinoblastoma (RB) RB_HUMAN 712 C R 1gh6 B 273 0 0 Childhood cancer retinoblastoma (RB) RB_HUMAN 549 H Y 2r7g A 170 24.4 24.4 Childhood cancer retinoblastoma (RB) RB_HUMAN 673 H P 1n4m A 233 25.3 25.3 Childhood cancer retinoblastoma (RB) RB_HUMAN 447 K Q 1gux A 76 36.1 36.1 Childhood cancer retinoblastoma (RB) RB_HUMAN 530 K R 1n4m A 151 47.2 12.5 Childhood cancer retinoblastoma (RB) RB_HUMAN 657 L P 1n4m A 217 6.7 3.8 Childhood cancer retinoblastoma (RB) RB_HUMAN 662 L P 1gh6 B 223 0 0 Childhood cancer retinoblastoma (RB) RB_HUMAN 457 M R 1gux A 86 0 0 Childhood cancer retinoblastoma (RB) RB_HUMAN 685 Q P 2r7g A 245 10.6 10.6 Childhood cancer retinoblastoma (RB) RB_HUMAN 500 R G 2r7g C 121 60.4 60.4 Childhood cancer retinoblastoma (RB) RB_HUMAN 661 R W 1n4m A 221 1.8 1.8 Childhood cancer retinoblastoma (RB) RB_HUMAN 567 S L 2r7g A 188 7.8 1.8 Childhood cancer retinoblastoma (RB) RB_HUMAN 654 V E 1gh6 B 215 0 0 Childhood cancer retinoblastoma (RB) RB_HUMAN 137 E D 2qdj A 86 80.3 80.3 Childhood cancer retinoblastoma (RB) RB_HUMAN 72 E Q 2qdj A 21 51.2 51.2 Childhood cancer retinoblastoma (RB) RB_HUMAN 185 I T 2qdj A 134 35.2 13.5 Childhood cancer retinoblastoma (RB) RENI_HUMAN 104 D N 2x0b E 81 8.7 0 Renal tubular dysgenesis (RTD) RENI_HUMAN 230 R K 3sfc A 164 42.7 14.1 Renal tubular dysgenesis (RTD) RET_HUMAN 762 E Q 2ivs B 63 65 36 Hirschsprung disease (HSCR) RET_HUMAN 768 E D 2ivu A 69 21.2 13.6 Medullary thyroid carcinoma (MTC) RET_HUMAN 921 E K 2x2m A 222 11 11 Hirschsprung disease (HSCR) RET_HUMAN 893 F L 2ivs B 194 0.4 0.4 Hirschsprung disease (HSCR) RET_HUMAN 894 G S 2ivt A 195 0.1 0.1 Renal adysplasia RET_HUMAN 907 K E 2x2k A 208 10 4.7 Hirschsprung disease (HSCR) RET_HUMAN 790 L F 2ivs B 91 3.1 3.1 Medullary thyroid carcinoma (MTC) RET_HUMAN 918 M T 2ivs B 219 8.2 2.8 Medullary thyroid carcinoma (MTC) RET_HUMAN 980 M T 2x2l A 281 0.5 0.5 Hirschsprung disease (HSCR) RET_HUMAN 973 P L 2x2m B 274 11.5 11.5 Hirschsprung disease (HSCR) RET_HUMAN 813 R Q 2x2m B 114 20.8 19.7 Hirschsprung disease (HSCR) RET_HUMAN 844 R L 2x2k A 145 32.8 32.8 Medullary thyroid carcinoma (MTC) RET_HUMAN 873 R Q 2x2m B 174 3.3 3.3 Hirschsprung disease (HSCR) RET_HUMAN 897 R Q 2x2k A 198 9 9 Hirschsprung disease (HSCR) RET_HUMAN 972 R G 2x2m B 273 49.1 49.1 Hirschsprung disease (HSCR) RET_HUMAN 765 S P 2ivu A 66 35.8 1.3 Hirschsprung disease (HSCR) RET_HUMAN 767 S R 2x2l A 68 33.8 2 Hirschsprung disease (HSCR) RET_HUMAN 891 S A 2ivs A 192 1.8 1.8 Medullary thyroid carcinoma (MTC) RET_HUMAN 922 S F 2x2m A 223 0.6 0.6 Medullary thyroid carcinoma (MTC) RET_HUMAN 946 T M 2ivs A 247 21.7 21.7 Medullary thyroid carcinoma (MTC) RET_HUMAN 778 V I 2ivv A 79 4.5 4.5 Renal adysplasia RET_HUMAN 804 V L 2ivs B 105 2.6 2.6 Medullary thyroid carcinoma (MTC) RET_HUMAN 883 A F 2x2m B 184 5.5 5.5 Multiple neoplasia type 2B (MEN2B) RET_HUMAN 804 V M 2ivs B 105 2.6 2.6 Medullary thyroid carcinoma (MTC) RET_HUMAN 791 Y F 2x2m B 92 9.1 9.1 Hirschsprung disease (HSCR) RHEB_HUMAN 139 E K 1xtr A 139 56.8 56.8 A colorectal cancer sample RIR2B_HUMAN 236 C F 3hf1 B 236 2.3 2.3 Encephalomyopathic mitochondrial depletion syndrome with renal tubulopathy (EMDSRT) RIR2B_HUMAN 194 E G 3hf1 B 194 3 3 Encephalomyopathic mitochondrial depletion syndrome with renal tubulopathy (EMDSRT) RIR2B_HUMAN 194 E K 3hf1 B 194 3 3 Encephalomyopathic mitochondrial depletion syndrome with renal tubulopathy (EMDSRT) RIR2B_HUMAN 224 I S 2vux B 228 0.4 0.4 Encephalomyopathic mitochondrial depletion syndrome with renal tubulopathy (EMDSRT) RIR2B_HUMAN 282 M I 2vux B 286 0 0 Encephalomyopathic mitochondrial depletion syndrome with renal tubulopathy (EMDSRT) RIR2B_HUMAN 115 V L 2vux A 119 0 0 Colorectal adenocarcinomas cell line RIR2B_HUMAN 64 W R 2vux A 68 2 2 Encephalomyopathic mitochondrial depletion syndrome with renal tubulopathy (EMDSRT) RIR2B_HUMAN 317 L V 3hf1 B 317 65.9 65.9 Encephalomyopathic mitochondrial depletion syndrome with renal tubulopathy (EMDSRT) RLBP1_HUMAN 226 M K 3hy5 A 225 0.1 0.1 Fundus albipunctatus (FA) RLBP1_HUMAN 151 R Q 3hy5 A 150 1.8 1.8 Retinitis pigmentosa autosomal recessive (ARRP) RLBP1_HUMAN 234 R W 3hx3 A 233 1.1 1.1 Bothnia retinal dystrophy (BRD) RPAB2_HUMAN 60 Y N 1qkl A 60 39.1 39.1 A breast cancer sample RPGP1_HUMAN 257 C R 3brw B 183 12.2 12.2 A breast cancer sample RU2B_HUMAN 19 K Q 1a9n D 19 69.3 40.5 A colorectal cancer sample RUNX1_HUMAN 139 R Q 1e50 G 90 37.5 37.5 Familial platelet disorder with associated myeloid malignancy (FPDMM) RUNX1_HUMAN 174 R Q 1cmo A 123 69.5 69.5 Familial platelet disorder with associated myeloid malignancy (FPDMM) SAHH_HUMAN 89 A V 1a7a A 89 0 0 Hypermethioninemia SAHH_HUMAN 86 D G 1li4 A 86 23.2 23.2 Hypermethioninemia SAHH_HUMAN 49 R C 3nj4 B 52 17.4 17.4 Hypermethioninemia SAHH_HUMAN 143 Y C 1a7a B 143 17.7 17.7 Hypermethioninemia SAMP_HUMAN 141 G S 3d5o C 122 66.8 49.3 A breast cancer sample SAP_HUMAN 388 C F 2z9a B 80 12.1 12.1 Atypical Gaucher disease (AGD) SAP_HUMAN 349 L P 2z9a A 41 39.3 10.5 Atypical Gaucher disease (AGD) SAP_HUMAN 241 C S 1n69 B 49 21.4 8.6 Metachromatic leukodystrophy (MLD) SAP_HUMAN 215 N H 1n69 A 23 47.6 47.6 Metachromatic leukodystrophy (MLD) SAP_HUMAN 215 N K 1n69 A 23 47.6 47.6 Metachromatic leukodystrophy (MLD) SAP_HUMAN 217 T I 1n69 B 25 51.1 51.1 Metachromatic leukodystrophy (MLD) SAP3_HUMAN 138 C R 2ag4 A 109 15.3 15.3 GM2-gangliosidosis type AB (GM2GAB) SAP3_HUMAN 169 R P 2ag9 A 140 32.6 32.6 GM2-gangliosidosis type AB (GM2GAB) SBDS_HUMAN 44 E G 2kdo A 46 40.6 40.6 Shwachman-Diamond syndrome (SDS) SBDS_HUMAN 212 I T 2l9n A 214 24.9 24.9 Shwachman-Diamond syndrome (SDS) SBDS_HUMAN 87 I S 2kdo A 89 0 0 Shwachman-Diamond syndrome (SDS) SBDS_HUMAN 67 K E 2kdo A 69 56.7 56.7 Shwachman-Diamond syndrome (SDS) SBDS_HUMAN 8 N K 2kdo A 10 47.4 47.4 Shwachman-Diamond syndrome (SDS) SBDS_HUMAN 126 R T 2l9n A 128 69 69 Shwachman-Diamond syndrome (SDS) SBDS_HUMAN 169 R C 2l9n A 171 62.4 62.4 Shwachman-Diamond syndrome (SDS) SC23A_HUMAN 382 F L 3egx A 382 0.8 0.8 Craniolenticulosutural dysplasia (CLSD) SCO1_HUMAN 174 P L 2gt6 A 46 22.4 22.4 Cytochrome c oxidase deficiency (COX deficiency) SCO2_HUMAN 140 E K 2rli A 45 4.8 4.8 Fatal infantile cardioencephalomyopathy with cytochrome c oxidase deficiency (FIC) SCO2_HUMAN 171 R W 2rli A 76 80.6 80.6 Fatal infantile cardioencephalomyopathy with cytochrome c oxidase deficiency (FIC) SCO2_HUMAN 225 S F 2rli A 130 54.9 54.9 Fatal infantile cardioencephalomyopathy with cytochrome c oxidase deficiency (FIC) SCOT1_HUMAN 456 C F 3dlx B 418 15.9 15.9 Ketoacidosis SCOT1_HUMAN 219 G E 3dlx A 181 0 0 Ketoacidosis SCOT1_HUMAN 324 G E 3dlx B 286 37.5 37.5 Ketoacidosis SCOT1_HUMAN 133 V E 3dlx A 95 0 0 Ketoacidosis SCOT1_HUMAN 221 V M 3dlx A 183 0 0 Ketoacidosis SERA_HUMAN 135 R W 2g76 A 155 77.2 17.8 Phosphoglycerate dehydrogenase deficiency (PHGDH deficiency) SERA_HUMAN 261 V M 2g76 A 281 1.8 1.8 Phosphoglycerate dehydrogenase deficiency (PHGDH deficiency) SERB_HUMAN 32 D N 1l8o A 32 33.2 33.2 3-phosphoserine phosphatase deficiency (PSPHD) SERB_HUMAN 52 M T 1l8o A 52 74.2 74.2 3-phosphoserine phosphatase deficiency (PSPHD) SERC_HUMAN 100 D A 3e77 A 107 0.2 0.2 Phosphoserine aminotransferase deficiency (PSATD) SH21A_HUMAN 42 C W 1d4w B 42 3.4 0 Lymphoproliferative syndrome X-linked type 1 (XLP1) SH21A_HUMAN 33 D Y 1d4w B 33 14.8 14.8 Lymphoproliferative syndrome X-linked type 1 (XLP1) SH21A_HUMAN 87 F S 1ka7 A 87 1.3 1.1 Lymphoproliferative syndrome X-linked type 1 (XLP1) SH21A_HUMAN 16 G D 1ka6 A 16 0 0 Lymphoproliferative syndrome X-linked type 1 (XLP1) SH21A_HUMAN 27 G S 1d1z A 27 0 0 Lymphoproliferative syndrome X-linked type 1 (XLP1) SH21A_HUMAN 49 G V 1d4t A 49 53.4 38.2 Lymphoproliferative syndrome X-linked type 1 (XLP1) SH21A_HUMAN 8 H D 1d4w B 8 8.8 8.8 Lymphoproliferative syndrome X-linked type 1 (XLP1) SH21A_HUMAN 84 I T 1ka6 A 84 2.1 2.1 Lymphoproliferative syndrome X-linked type 1 (XLP1) SH21A_HUMAN 31 L P 1ka7 A 31 0.7 0.7 Lymphoproliferative syndrome X-linked type 1 (XLP1) SH21A_HUMAN 101 P L 1ka7 A 101 42.7 42.7 Lymphoproliferative syndrome X-linked type 1 (XLP1) SH21A_HUMAN 99 Q P 1d1z D 99 44.1 44.1 Lymphoproliferative syndrome X-linked type 1 (XLP1) SH21A_HUMAN 32 R T 1d4t A 32 4.6 0.7 Lymphoproliferative syndrome X-linked type 1 (XLP1) SH21A_HUMAN 55 R L 1d1z D 55 36.7 3 Lymphoproliferative syndrome X-linked type 1 (XLP1) SH21A_HUMAN 28 S R 1d1z B 28 0 0 Lymphoproliferative syndrome X-linked type 1 (XLP1) SH21A_HUMAN 53 T I 1ka6 A 53 40.5 0 Lymphoproliferative syndrome X-linked type 1 (XLP1) SH21A_HUMAN 68 T I 1ka6 A 68 21.5 10.8 Lymphoproliferative syndrome X-linked type 1 (XLP1) SH21A_HUMAN 102 V G 1d1z D 102 8 8 Lymphoproliferative syndrome X-linked type 1 (XLP1) SH21A_HUMAN 54 Y C 1ka6 A 54 6.6 0.9 Lymphoproliferative syndrome X-linked type 1 (XLP1) SH21A_HUMAN 7 Y C 1d4t A 7 12.9 12.9 Lymphoproliferative syndrome X-linked type 1 (XLP1) SHH_HUMAN 110 A D 3ho5 H 82 0.5 0.5 Holoprosencephaly type 3 (HPE3) SHH_HUMAN 183 C F 3ho5 H 155 0 0 Holoprosencephaly type 3 (HPE3) SHH_HUMAN 88 D V 3ho5 H 60 27.1 27.1 Holoprosencephaly type 3 (HPE3) SHH_HUMAN 188 E Q 3mxw A 160 47.6 47.6 Holoprosencephaly type 3 (HPE3) SHH_HUMAN 140 H P 3ho5 H 112 0.6 0 Holoprosencephaly type 3 (HPE3) SHH_HUMAN 140 H Q 3ho5 H 112 0.6 0 Holoprosencephaly type 3 (HPE3) SHH_HUMAN 111 I F 3m1n A 89 60.8 60.8 Solitary median maxillary central incisor (SMMCI) SHH_HUMAN 111 I N 3m1n A 89 60.8 60.8 Holoprosencephaly type 3 (HPE3) SHH_HUMAN 115 N K 3m1n A 93 80.4 80.4 Holoprosencephaly type 3 (HPE3) SHH_HUMAN 100 Q H 3m1n A 78 50.4 50.4 Holoprosencephaly type 3 (HPE3) SHH_HUMAN 150 T R 3ho5 H 122 0 0 Holoprosencephaly type 3 (HPE3) SHH_HUMAN 117 W G 3ho5 H 89 15.4 15.4 Holoprosencephaly type 3 (HPE3) SHH_HUMAN 117 W R 3ho5 H 89 15.4 15.4 Holoprosencephaly type 3 (HPE3) SHH_HUMAN 27 G A 3m1n A 5 52.1 52.1 Holoprosencephaly type 3 (HPE3) SHH_HUMAN 31 G R 3m1n A 9 52.4 52.4 Holoprosencephaly type 3 (HPE3) SMAD2_HUMAN 300 D V 1dev A 40 2.2 2.2 A colorectal cancer sample SMAD2_HUMAN 450 D E 1khx A 210 39.8 0 Colorectal carcinoma SMAD2_HUMAN 440 L R 1dev A 180 0 0 Colorectal carcinoma SMAD2_HUMAN 445 P H 1dev A 185 2.7 2.7 Colorectal carcinoma SMAD3_HUMAN 393 P L 1u7f A 166 0.7 0.7 A colorectal cancer sample SMAD4_HUMAN 351 D N 1mr1 A 34 0.5 0.5 A colorectal cancer sample SMAD4_HUMAN 493 D H 1u7v B 180 58.4 1.3 Pancreatic carcinoma SMAD4_HUMAN 330 E G 1dd1 A 46 0.6 0.6 Juvenile polyposis syndrome (JPS) SMAD4_HUMAN 352 G R 1u7v B 39 22.5 7.7 Juvenile polyposis syndrome (JPS) SMAD4_HUMAN 386 G D 1dd1 A 102 0 0 Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome (JP/HHT) SMAD4_HUMAN 361 R C 1g88 C 77 32.1 20.5 Juvenile polyposis syndrome (JPS) SMAD4_HUMAN 361 R H 1g88 C 77 32.1 20.5 A colorectal cancer sample SMN_HUMAN 111 A G 1g5v A 30 0 0 Spinal muscular atrophy autosomal recessive type 2 (SMA2) SMN_HUMAN 95 G R 1g5v A 14 49.9 49.9 Spinal muscular atrophy autosomal recessive type 3 (SMA3) SMN_HUMAN 116 I F 4a4g A 33 12.3 12.3 Spinal muscular atrophy autosomal recessive type 1 (SMA1) SMN_HUMAN 136 Q E 4a4g A 53 6.3 6.3 Spinal muscular atrophy autosomal recessive type 1 (SMA1) SODC_HUMAN 146 A T 1azv A 145 0 0 Amyotrophic lateral sclerosis type 1 (ALS1) SODC_HUMAN 5 A S 1dsw A 4 0 0 Amyotrophic lateral sclerosis type 1 (ALS1) SODC_HUMAN 5 A T 1dsw A 4 0 0 Amyotrophic lateral sclerosis type 1 (ALS1) SODC_HUMAN 5 A V 1dsw A 4 0 0 Amyotrophic lateral sclerosis type 1 (ALS1) SODC_HUMAN 90 A T 1l3n A 89 0 0 Amyotrophic lateral sclerosis type 1 (ALS1) SODC_HUMAN 90 A V 1l3n A 89 0 0 Amyotrophic lateral sclerosis type 1 (ALS1) SODC_HUMAN 147 C R 2xjl A 146 1.1 1.1 Amyotrophic lateral sclerosis type 1 (ALS1) SODC_HUMAN 7 C F 1dsw A 6 0 0 Amyotrophic lateral sclerosis type 1 (ALS1) SODC_HUMAN 102 D G 2v0a A 101 0.9 0.9 Amyotrophic lateral sclerosis type 1 (ALS1) SODC_HUMAN 102 D N 2v0a A 101 0.9 0.9 Amyotrophic lateral sclerosis type 1 (ALS1) SODC_HUMAN 125 D G 3gtv I 124 0.3 0.3 Amyotrophic lateral sclerosis type 1 (ALS1) SODC_HUMAN 125 D V 3gtv I 124 0.3 0.3 Amyotrophic lateral sclerosis type 1 (ALS1) SODC_HUMAN 126 D H 2zkx C 131 31.6 14.6 Amyotrophic lateral sclerosis type 1 (ALS1) SODC_HUMAN 77 D Y 1l3n B 76 17.5 17.5 Amyotrophic lateral sclerosis type 1 (ALS1) SODC_HUMAN 91 D A 3gzq B 91 36.2 36.2 Amyotrophic lateral sclerosis type 1 (ALS1) SODC_HUMAN 91 D V 3gzq B 91 36.2 36.2 Amyotrophic lateral sclerosis type 1 (ALS1) SODC_HUMAN 101 E G 3cqp D 100 47.3 47.3 Amyotrophic lateral sclerosis type 1 (ALS1) SODC_HUMAN 101 E K 3cqp D 100 47.3 47.3 Amyotrophic lateral sclerosis type 1 (ALS1) SODC_HUMAN 22 E G 2nnx B 22 20.4 8.4 Amyotrophic lateral sclerosis type 1 (ALS1) SODC_HUMAN 22 E K 2nnx B 22 20.4 8.4 Amyotrophic lateral sclerosis type 1 (ALS1) SODC_HUMAN 50 E K 2af2 B 49 16.3 16.3 Amyotrophic lateral sclerosis type 1 (ALS1) SODC_HUMAN 21 F C 1fun C 20 0 0 Amyotrophic lateral sclerosis type 1 (ALS1) SODC_HUMAN 46 F C 1azv A 45 0 0 Amyotrophic lateral sclerosis type 1 (ALS1) SODC_HUMAN 109 G V 1kmg A 108 34 34 Amyotrophic lateral sclerosis type 1 (ALS1) SODC_HUMAN 115 G A 1azv A 114 48.4 0 Amyotrophic lateral sclerosis type 1 (ALS1) SODC_HUMAN 13 G R 2zkx B 18 71 18.2 Amyotrophic lateral sclerosis type 1 (ALS1) SODC_HUMAN 148 G R 2af2 A 147 5.4 0.6 Amyotrophic lateral sclerosis type 1 (ALS1) SODC_HUMAN 17 G S 1l3n B 16 0 0 Amyotrophic lateral sclerosis type 1 (ALS1) SODC_HUMAN 38 G R 2zkx A 43 42.2 20 Amyotrophic lateral sclerosis type 1 (ALS1) SODC_HUMAN 42 G D 2vr7 F 42 19.6 19.6 Amyotrophic lateral sclerosis type 1 (ALS1) SODC_HUMAN 42 G S 2vr7 F 42 19.6 19.6 Amyotrophic lateral sclerosis type 1 (ALS1) SODC_HUMAN 73 G S 1kmg A 72 0 0 Amyotrophic lateral sclerosis type 1 (ALS1) SODC_HUMAN 86 G R 1l3n A 85 0 0 Amyotrophic lateral sclerosis type 1 (ALS1) SODC_HUMAN 94 G A 1l3n A 93 0 0 Amyotrophic lateral sclerosis type 1 (ALS1) SODC_HUMAN 94 G C 1l3n A 93 0 0 Amyotrophic lateral sclerosis type 1 (ALS1) SODC_HUMAN 94 G D 1l3n A 93 0 0 Amyotrophic lateral sclerosis type 1 (ALS1) SODC_HUMAN 94 G R 1l3n A 93 0 0 Amyotrophic lateral sclerosis type 1 (ALS1) SODC_HUMAN 94 G V 1l3n A 93 0 0 Amyotrophic lateral sclerosis type 1 (ALS1) SODC_HUMAN 44 H R 1dsw A 43 0 0 Amyotrophic lateral sclerosis type 1 (ALS1) SODC_HUMAN 47 H R 1azv A 46 0 0 Amyotrophic lateral sclerosis type 1 (ALS1) SODC_HUMAN 49 H Q 1dsw A 48 0 0 Amyotrophic lateral sclerosis type 1 (ALS1) SODC_HUMAN 49 H R 1dsw A 48 0 0 Amyotrophic lateral sclerosis type 1 (ALS1) SODC_HUMAN 105 I F 1spd A 105 0.1 0.1 Amyotrophic lateral sclerosis type 1 (ALS1) SODC_HUMAN 113 I M 1azv A 112 0 0 Amyotrophic lateral sclerosis type 1 (ALS1) SODC_HUMAN 113 I T 1azv A 112 0 0 Amyotrophic lateral sclerosis type 1 (ALS1) SODC_HUMAN 114 I T 2af2 A 113 18.1 3 Amyotrophic lateral sclerosis type 1 (ALS1) SODC_HUMAN 150 I T 1azv A 149 0.6 0 Amyotrophic lateral sclerosis type 1 (ALS1) SODC_HUMAN 152 I T 2af2 B 151 50 3 Amyotrophic lateral sclerosis type 1 (ALS1) SODC_HUMAN 107 L V 1l3n A 106 0 0 Amyotrophic lateral sclerosis type 1 (ALS1) SODC_HUMAN 127 L S 2zkx C 132 9.8 3 Amyotrophic lateral sclerosis type 1 (ALS1) SODC_HUMAN 145 L F 2zkx B 150 28.5 0.4 Amyotrophic lateral sclerosis type 1 (ALS1) SODC_HUMAN 145 L S 2zkx B 150 28.5 0.4 Amyotrophic lateral sclerosis type 1 (ALS1) SODC_HUMAN 39 L R 3gzo A 39 0.6 0.6 Amyotrophic lateral sclerosis type 1 (ALS1) SODC_HUMAN 39 L V 3gzo A 39 0.6 0.6 Amyotrophic lateral sclerosis type 1 (ALS1) SODC_HUMAN 68 L R 2nnx B 68 45.3 26.2 Amyotrophic lateral sclerosis type 1 (ALS1) SODC_HUMAN 85 L F 3kh3 C 84 0.6 0.6 Amyotrophic lateral sclerosis type 1 (ALS1) SODC_HUMAN 85 L V 3kh3 C 84 0.6 0.6 Amyotrophic lateral sclerosis type 1 (ALS1) SODC_HUMAN 9 L Q 1fun C 8 0 0 Amyotrophic lateral sclerosis type 1 (ALS1) SODC_HUMAN 9 L V 1fun C 8 0 0 Amyotrophic lateral sclerosis type 1 (ALS1) SODC_HUMAN 81 H A 1kmg A 80 0.4 0.4 Amyotrophic lateral sclerosis type 1 (ALS1) SODC_HUMAN 140 N K 2zkx B 145 44.2 6.1 Amyotrophic lateral sclerosis type 1 (ALS1) SODC_HUMAN 66 N S 1l3n A 65 5.2 5.2 Amyotrophic lateral sclerosis type 1 (ALS1) SODC_HUMAN 87 N S 3hff A 86 21.9 0.9 Amyotrophic lateral sclerosis type 1 (ALS1) SODC_HUMAN 23 Q L 2af2 A 22 0 0 Amyotrophic lateral sclerosis type 1 (ALS1) SODC_HUMAN 116 R G 1kmg A 115 1.6 1.6 Amyotrophic lateral sclerosis type 1 (ALS1) SODC_HUMAN 106 S L 2zkx C 111 13.6 0 Amyotrophic lateral sclerosis type 1 (ALS1) SODC_HUMAN 135 S N 1azv A 134 0 0 Amyotrophic lateral sclerosis type 1 (ALS1) SODC_HUMAN 55 T R 2af2 B 54 94.4 7.7 Amyotrophic lateral sclerosis type 1 (ALS1) SODC_HUMAN 119 V L 1azv A 118 0 0 Amyotrophic lateral sclerosis type 1 (ALS1) SODC_HUMAN 149 V G 2af2 A 148 55.1 0 Amyotrophic lateral sclerosis type 1 (ALS1) SODC_HUMAN 149 V I 2af2 A 148 55.1 0 Amyotrophic lateral sclerosis type 1 (ALS1) SODC_HUMAN 15 V G 2zkx B 20 4.9 0.7 Amyotrophic lateral sclerosis type 1 (ALS1) SODC_HUMAN 15 V M 2zkx B 20 4.9 0.7 Amyotrophic lateral sclerosis type 1 (ALS1) SODC_HUMAN 88 V A 2af2 A 87 0 0 Amyotrophic lateral sclerosis type 1 (ALS1) SODC_HUMAN 8 V E 2af2 A 7 53 2.1 Amyotrophic lateral sclerosis type 1 (ALS1) SODC_HUMAN 98 V M 1kmg A 97 0 0 Amyotrophic lateral sclerosis type 1 (ALS1) SOMA_HUMAN 79 C S 1huw A 53 3.5 3.5 Short stature SOMA_HUMAN 138 D G 1hgu A 112 46.5 46.5 Kowarski syndrome SOMA_HUMAN 37 D N 1hwh A 11 59.1 25.5 Isolated growth hormone deficiency type IB (IGHD IB) SOMA_HUMAN 100 E K 1bp3 A 74 18.9 18.9 Isolated growth hormone deficiency type IB (IGHD IB) SOMA_HUMAN 205 I M 1axi A 179 12.2 0 Short stature SOMA_HUMAN 67 K R 3hhr A 41 15.9 4.8 Isolated growth hormone deficiency type IB (IGHD IB) SOMA_HUMAN 73 N D 1hwh A 47 27 27 Isolated growth hormone deficiency type IB (IGHD IB) SOMA_HUMAN 117 Q L 1a22 A 91 33.7 33.7 Isolated growth hormone deficiency type IB (IGHD IB) SOMA_HUMAN 103 R C 1bp3 A 77 5.1 5.1 Kowarski syndrome SOMA_HUMAN 209 R H 1hgu A 183 27.4 27.4 Isolated growth hormone deficiency type II (IGHD II) SOMA_HUMAN 42 R C 1hwh A 16 22.4 0.6 Isolated growth hormone deficiency type IB (IGHD IB) SOMA_HUMAN 134 S C 1bp3 A 108 19.1 19.1 Isolated growth hormone deficiency type IB (IGHD IB) SOMA_HUMAN 134 S R 1bp3 A 108 19.1 19.1 Isolated growth hormone deficiency type IB (IGHD IB) SOMA_HUMAN 97 S F 1hgu A 71 26.6 26.6 Isolated growth hormone deficiency type IB (IGHD IB) SOMA_HUMAN 201 T A 1a22 A 175 39.2 4.5 Isolated growth hormone deficiency type IB (IGHD IB) SOMA_HUMAN 53 T I 3hhr A 27 0 0 Isolated growth hormone deficiency type IB (IGHD IB) SOS1_HUMAN 846 E K 2ii0 A 287 52.8 52.8 Noonan syndrome type 4 (NS4) SOS1_HUMAN 733 I F 1bkd S 166 0 0 Noonan syndrome type 4 (NS4) SOS1_HUMAN 729 W L 1xd2 C 164 41.8 0.7 Noonan syndrome type 4 (NS4) SOS1_HUMAN 702 Y H 2ii0 A 143 11 11 Noonan syndrome type 4 (NS4) SOS1_HUMAN 441 C Y 1xd4 B 244 2.1 2.1 Noonan syndrome type 4 (NS4) SOS1_HUMAN 309 D Y 1xd4 B 112 74.1 74.1 Noonan syndrome type 4 (NS4) SOS1_HUMAN 433 E K 1dbh A 236 63.3 63.3 Noonan syndrome type 4 (NS4) SOS1_HUMAN 434 G R 1xdv A 237 82.4 82.4 Noonan syndrome type 4 (NS4) SOS1_HUMAN 550 L P 1xd4 B 353 4.2 4.2 Noonan syndrome type 4 (NS4) SOS1_HUMAN 269 M R 1xd4 B 72 3.5 3.5 Noonan syndrome type 4 (NS4) SOS1_HUMAN 548 S R 1xd4 A 351 56.6 56.6 Noonan syndrome type 4 (NS4) SOS1_HUMAN 266 T K 1xd4 A 69 13 13 Noonan syndrome type 4 (NS4) SOS1_HUMAN 432 W R 1xdv A 235 21.9 21.9 Noonan syndrome type 4 (NS4) SOS1_HUMAN 337 Y C 1dbh A 140 3.6 3.6 Noonan syndrome type 4 (NS4) SOS1_HUMAN 108 E K 1q9c A 108 60.9 60.9 Noonan syndrome type 4 (NS4) SOS1_HUMAN 552 R G 1xd4 A 355 66.4 66.4 Noonan syndrome type 4 (NS4) SOS1_HUMAN 552 R K 1xd4 A 355 66.4 66.4 Noonan syndrome type 4 (NS4) SOS1_HUMAN 552 R S 1xd4 A 355 66.4 66.4 Noonan syndrome type 4 (NS4) SPAST_HUMAN 195 L V 3eab A 88 20 20 Spastic paraplegia autosomal dominant type 4 (SPG4) SPRE_HUMAN 163 P L 1z6z E 182 75.7 11.5 Dystonia DOPA-responsive due to sepiapterin reductase deficiency (DRDSPRD) SPRE_HUMAN 150 R G 1z6z E 169 4.5 4.5 Dystonia DOPA-responsive due to sepiapterin reductase deficiency (DRDSPRD) SPYA_HUMAN 183 D N 3r9a A 185 0.2 0.2 Primary hyperoxaluria type I (PH1) SPYA_HUMAN 152 F I 1h0c A 152 0 0 Primary hyperoxaluria type I (PH1) SPYA_HUMAN 116 G R 1h0c A 116 0 0 Primary hyperoxaluria type I (PH1) SPYA_HUMAN 156 G R 3r9a A 158 0 0 Primary hyperoxaluria type I (PH1) SPYA_HUMAN 170 G R 3r9a A 172 0.1 0.1 Primary hyperoxaluria type I (PH1) SPYA_HUMAN 41 G R 3r9a C 43 44.9 5.8 Primary hyperoxaluria type I (PH1) SPYA_HUMAN 41 G V 3r9a C 43 44.9 5.8 Primary hyperoxaluria type I (PH1) SPYA_HUMAN 82 G E 3r9a A 84 0 0 Primary hyperoxaluria type I (PH1) SPYA_HUMAN 244 I T 3r9a C 246 0.9 0.9 Primary hyperoxaluria type I (PH1) SPYA_HUMAN 233 R C 1h0c A 233 7.4 7.4 Primary hyperoxaluria type I (PH1) SPYA_HUMAN 233 R H 1h0c A 233 7.4 7.4 Primary hyperoxaluria type I (PH1) SPYA_HUMAN 187 S F 1h0c A 187 0 0 Primary hyperoxaluria type I (PH1) SPYA_HUMAN 205 S P 1h0c A 205 0.3 0.3 Primary hyperoxaluria type I (PH1) SQSTM_HUMAN 411 G S 2knv A 27 14.5 14.5 Sporadic and familial Paget disease of bone (PDB) SQSTM_HUMAN 425 G R 2jy8 A 41 33.3 33.3 Sporadic and familial Paget disease of bone (PDB) SQSTM_HUMAN 404 M T 1q02 A 20 42.8 42.8 Sporadic and familial Paget disease of bone (PDB) SQSTM_HUMAN 404 M V 1q02 A 20 42.8 42.8 Sporadic and familial Paget disease of bone (PDB) SQSTM_HUMAN 387 P L 2jy8 A 3 39.2 39.2 Sporadic and familial Paget disease of bone (PDB) SQSTM_HUMAN 392 P L 2jy8 A 8 34.9 34.9 Sporadic and familial Paget disease of bone (PDB) SQSTM_HUMAN 399 S P 2jy7 A 15 22.5 22.5 Sporadic and familial Paget disease of bone (PDB) SRBP2_HUMAN 347 N K 1ukl D 5 89.9 41.9 A breast cancer sample SRY_HUMAN 113 A T 1j47 A 58 11.7 7 Gonadal dysgenesis XY female type (GDXY) SRY_HUMAN 109 F S 1hry A 54 18.9 18.9 Gonadal dysgenesis XY female type (GDXY) SRY_HUMAN 67 F V 1j46 A 12 28.1 0.1 Gonadal dysgenesis XY female type (GDXY) SRY_HUMAN 95 G E 1j46 A 40 29.4 0.5 Gonadal dysgenesis XY female type (GDXY) SRY_HUMAN 95 G R 1j46 A 40 29.4 0.5 Gonadal dysgenesis XY female type (GDXY) SRY_HUMAN 68 I T 1hrz A 13 40.5 0.1 Gonadal dysgenesis XY female type (GDXY) SRY_HUMAN 90 I M 1j47 A 35 0.3 0.3 Gonadal dysgenesis XY female type (GDXY) SRY_HUMAN 106 K I 1j47 A 51 18.7 14.4 Gonadal dysgenesis XY female type (GDXY) SRY_HUMAN 101 L H 1j47 A 46 29 29 Gonadal dysgenesis XY female type (GDXY) SRY_HUMAN 64 M I 1j46 A 9 30.5 16.1 Gonadal dysgenesis XY female type (GDXY) SRY_HUMAN 64 M R 1j46 A 9 30.5 16.1 Gonadal dysgenesis XY female type (GDXY) SRY_HUMAN 78 M T 1j46 A 23 15 15 Gonadal dysgenesis XY female type (GDXY) SRY_HUMAN 87 N Y 1j47 A 32 58.5 0.5 Gonadal dysgenesis XY female type (GDXY) SRY_HUMAN 108 P R 1hrz A 53 42.7 42.7 Gonadal dysgenesis XY female type (GDXY) SRY_HUMAN 125 P L 1hrz A 70 70.9 70.9 Gonadal dysgenesis XY female type (GDXY) SRY_HUMAN 62 R G 1j46 A 7 55.4 8.2 Gonadal dysgenesis XY female type (GDXY) SRY_HUMAN 76 R S 1j46 A 21 63.8 52.7 Gonadal dysgenesis XY female type (GDXY) SRY_HUMAN 91 S G 1j46 A 36 40.5 0.1 Gonadal dysgenesis XY female type (GDXY) SRY_HUMAN 60 V A 1hrz A 5 18.8 18 Gonadal dysgenesis XY female type (GDXY) SRY_HUMAN 60 V L 1hrz A 5 18.8 18 Gonadal dysgenesis XY female type (GDXY) SRY_HUMAN 127 Y C 1j46 A 72 35.9 35.9 Gonadal dysgenesis XY female type (GDXY) SRY_HUMAN 127 Y F 1j46 A 72 35.9 35.9 Gonadal dysgenesis XY female type (GDXY) SRY_HUMAN 131 P R 1j47 A 76 53.3 13.4 Gonadal dysgenesis XY female type (GDXY) SRY_HUMAN 133 R W 1j47 A 78 70.2 26.1 Gonadal dysgenesis XY female type (GDXY) SSDH_HUMAN 223 C Y 2w8n A 175 0 0 Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) SSDH_HUMAN 93 C F 2w8n A 45 0.1 0.1 Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) SSDH_HUMAN 176 G R 2w8n A 128 54.2 4.7 Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) SSDH_HUMAN 268 G E 2w8n A 220 5.3 5.3 Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) SSDH_HUMAN 409 G D 2w8n A 361 42 42 Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) SSDH_HUMAN 533 G R 2w8n A 485 36.8 0.9 Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) SSDH_HUMAN 255 N S 2w8n A 207 0 0 Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) SSDH_HUMAN 335 N K 2w8n A 287 30.7 30.7 Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) SSDH_HUMAN 382 P L 2w8n A 334 10.5 10.5 Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) SSDH_HUMAN 382 P Q 2w8n A 334 10.5 10.5 Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) SSDH_HUMAN 233 T M 2w8n A 185 1.4 1.4 Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) SSDH_HUMAN 487 V E 2w8n A 439 12.8 3.1 Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) ST14_HUMAN 827 G R 1eaw C 213 32.3 0.8 Ichthyosis autosomal recessive with hypotrichosis (ARIH) STAT1_HUMAN 600 L P 1bf5 A 465 3.8 3.8 STAT1 deficiency STAT1_HUMAN 706 L S 1bf5 A 571 61.8 9.9 Mendelian susceptibility to mycobacterial disease (MSMD) STAT1_HUMAN 491 P A 1bf5 A 356 40.5 40.5 A breast cancer sample STF1_HUMAN 255 R L 1zdt B 35 62.8 58.2 Adrenocortical insufficiency without ovarian defect STK10_HUMAN 277 K E 3zz2 A 254 42.9 30 A testicular germ cell tumor STK11_HUMAN 194 D N 2wtk F 152 36.5 36.5 Peutz-Jeghers syndrome (PJS) STK11_HUMAN 194 D Y 2wtk F 152 36.5 36.5 Melanoma STK11_HUMAN 135 G R 2wtk F 93 6.2 6.2 Melanoma STK11_HUMAN 163 G D 2wtk F 121 0 0 Testicular tumors STK11_HUMAN 67 L P 2wtk F 25 12 2.7 Peutz-Jeghers syndrome (PJS) STK11_HUMAN 315 P S 2wtk F 273 80.9 80.9 Peutz-Jeghers syndrome (PJS) STK11_HUMAN 297 R K 2wtk F 255 0.5 0.5 Peutz-Jeghers syndrome (PJS) STK11_HUMAN 87 R K 2wtk F 45 85.6 85.6 A metastatic melanoma sample STK11_HUMAN 239 W C 2wtk F 197 1 1 Peutz-Jeghers syndrome (PJS) STK11_HUMAN 49 Y D 2wtk F 7 1.5 1.5 Melanoma STS_HUMAN 446 C Y 1p49 A 425 2.1 2.1 Ichthyosis X-linked (IXL) STS_HUMAN 380 G R 1p49 A 359 0 0 Ichthyosis X-linked (IXL) STS_HUMAN 444 H R 1p49 A 423 3.8 3.8 Ichthyosis X-linked (IXL) STS_HUMAN 560 Q P 1p49 A 539 3.2 3.2 Ichthyosis X-linked (IXL) STS_HUMAN 341 S L 1p49 A 320 0 0 Ichthyosis X-linked (IXL) STS_HUMAN 372 W R 1p49 A 351 9.9 9.9 Ichthyosis X-linked (IXL) STS_HUMAN 372 W S 1p49 A 351 9.9 9.9 Ichthyosis X-linked (IXL) STX12_HUMAN 88 P R 2dnx A 78 77.2 77.2 A breast cancer sample SUMF1_HUMAN 177 A P 2aik X 92 12.7 10.6 Multiple sulfatase deficiency (MSD) SUMF1_HUMAN 279 A V 1y1e X 207 0 0 Multiple sulfatase deficiency (MSD) SUMF1_HUMAN 348 A P 1y1e X 276 0 0 Multiple sulfatase deficiency (MSD) SUMF1_HUMAN 218 C Y 1y1e X 146 0 0 Multiple sulfatase deficiency (MSD) SUMF1_HUMAN 336 C R 2hib X 251 0.3 0.3 Multiple sulfatase deficiency (MSD) SUMF1_HUMAN 259 N I 1y1e X 187 0 0 Multiple sulfatase deficiency (MSD) SUMF1_HUMAN 266 P L 1y1g X 194 23.1 23.1 Multiple sulfatase deficiency (MSD) SUMF1_HUMAN 224 R W 2hi8 X 139 24.5 24.5 Multiple sulfatase deficiency (MSD) SUMF1_HUMAN 345 R C 2hi8 X 260 1.3 1.3 Multiple sulfatase deficiency (MSD) SUMF1_HUMAN 349 R Q 1y1i X 277 2.2 2.2 Multiple sulfatase deficiency (MSD) SUMF1_HUMAN 349 R W 1y1i X 277 2.2 2.2 Multiple sulfatase deficiency (MSD) SUMF1_HUMAN 155 S P 2hi8 X 70 3.4 0.7 Multiple sulfatase deficiency (MSD) SUMF1_HUMAN 179 W S 2aij X 94 15.4 15.4 Multiple sulfatase deficiency (MSD) SYG_HUMAN 125 E G 2zt6 A 71 22.4 22.4 Charcot-Marie-Tooth disease type 2D (CMT2D) SYG_HUMAN 294 G R 2q5i A 240 0 0 Charcot-Marie-Tooth disease type 2D (CMT2D) SYG_HUMAN 580 G R 2pmf A 526 5.9 5.9 Distal spinal muscular atrophy type V (DSMA-V) SYG_HUMAN 183 L P 2pmf A 129 54.6 0 Distal spinal muscular atrophy type V (DSMA-V) SYUA_HUMAN 30 A P 1xq8 A 30 61.6 61.6 Autosomal dominant Parkinson disease 1 (PARK1) SYUA_HUMAN 53 A T 1xq8 A 53 40.3 40.3 Autosomal dominant Parkinson disease 1 (PARK1) SYUA_HUMAN 46 E K 2kkw A 46 76.4 76.4 Autosomal dominant Parkinson disease 1 (PARK1) SYWC_HUMAN 455 E D 2quh B 455 41 41 A breast cancer sample SYYC_HUMAN 196 E K 1q11 A 196 19.5 19.5 Charcot-Marie-Tooth disease dominant intermediate type C (CMTDIC) SYYC_HUMAN 41 G R 1q11 A 41 35.9 35.9 Charcot-Marie-Tooth disease dominant intermediate type C (CMTDIC) TADBP_HUMAN 267 N S 1wf0 A 82 93.1 93.1 Amyotrophic lateral sclerosis type 10 (ALS10) TADBP_HUMAN 169 D G 2cqg A 81 53.9 53.9 Amyotrophic lateral sclerosis type 10 (ALS10) TAF1L_HUMAN 1549 H Y 3hmh A 50 62 62 A glioblastoma multiforme sample TAP1_HUMAN 719 R Q 1jj7 A 171 17.8 17.8 A lung cancer cell line deficient in MHC class I presentation TBX3_HUMAN 143 L P 1h6f A 45 4.5 4.5 Ulnar-mammary syndrome (UMS) TBX3_HUMAN 149 Y S 1h6f B 51 0 0 Ulnar-mammary syndrome (UMS) TEAD1_HUMAN 421 Y H 3kys A 214 19.6 0.8 Sveinsson chorioretinal atrophy (SCRA) TELT_HUMAN 70 R W 2f8v Y 70 30.8 20 Cardiomyopathy dilated type 1N (CMD1N) TELT_HUMAN 87 R Q 2f8v Y 87 78.2 54.9 Cardiomyopathy dilated type 1N (CMD1N) TF2AA_HUMAN 30 L V 1nvp B 29 50.5 50.5 A breast cancer sample TF2B_HUMAN 132 R Q 1c9b I 23 59.3 59.3 A colorectal cancer sample TF2H5_HUMAN 21 L P 1ydl A 29 18.8 18.8 Trichothiodystrophy photosensitive (TTDP) TFF1_HUMAN 34 A D 1hi7 A 10 27.6 27.6 Gastric carcinoma TFF1_HUMAN 37 E K 1hi7 A 13 60.2 60.2 Gastric carcinoma TFF1_HUMAN 55 G V 1hi7 B 31 66.8 66.8 Gastric carcinoma TFF1_HUMAN 32 T I 1hi7 B 8 74.8 74.8 Gastric carcinoma TFF1_HUMAN 32 T K 1hi7 B 8 74.8 74.8 Gastric carcinoma TGFR1_HUMAN 400 D G 2x7o A 239 0.8 0.8 Loeys-Dietz syndrome type 1A (LDS1A) TGFR1_HUMAN 232 K E 1py5 A 58 10.4 10.4 Loeys-Dietz syndrome type 2A (LDS2A) TGFR1_HUMAN 318 M R 1b6c H 157 38.2 10.7 Loeys-Dietz syndrome type 1A (LDS1A) TGFR1_HUMAN 487 R P 2wou A 290 24.7 24.7 Loeys-Dietz syndrome type 1A (LDS1A) TGFR1_HUMAN 487 R Q 2wou A 290 24.7 24.7 Aortic aneurysm familial thoracic type 5 (AAT5) TGFR1_HUMAN 487 R W 2wou A 290 24.7 24.7 Loeys-Dietz syndrome type 2A (LDS2A) TGFR1_HUMAN 241 S L 1b6c H 80 0 0 Loeys-Dietz syndrome type 1A (LDS1A) TGFR1_HUMAN 200 T I 1b6c B 39 55.9 14.2 Loeys-Dietz syndrome type 1A (LDS1A) TGFR2_HUMAN 61 C R 2pjy B 20 5 5 A gastric adenocarcinoma sample TGFR2_HUMAN 73 I V 2pjy B 32 47.1 14.4 A colorectal cancer sample TGM2_HUMAN 660 G V 2q3z A 660 14 14 A colorectal cancer sample TGM2_HUMAN 331 I N 2q3z A 331 17.8 6.8 Early-onset diabetes type 2 TGM2_HUMAN 330 M R 3ly6 A 330 24.1 24.1 Early-onset diabetes type 2 THAP1_HUMAN 81 F L 2l1g A 81 1.5 1.5 Dystonia type 6 (DYT6) THB_HUMAN 234 A T 1bsx A 33 12 12 Generalized thyroid hormone resistance (GTHR) THB_HUMAN 268 A G 1bsx A 67 0 0 Generalized thyroid hormone resistance (GTHR) THB_HUMAN 317 A T 1n46 A 114 6.8 6.8 Generalized thyroid hormone resistance (GTHR) THB_HUMAN 335 A P 1q4x A 127 0.1 0.1 Generalized thyroid hormone resistance (GTHR) THB_HUMAN 446 C R 3jzc A 248 1 1 Generalized thyroid hormone resistance (GTHR) THB_HUMAN 459 F C 1nq1 A 261 7.3 7.3 Generalized thyroid hormone resistance (GTHR) THB_HUMAN 332 G R 1bsx A 131 0 0 Generalized thyroid hormone resistance (GTHR) THB_HUMAN 345 G R 1n46 A 142 0.7 0.7 Generalized thyroid hormone resistance (GTHR) THB_HUMAN 345 G S 1n46 A 142 0.7 0.7 Generalized thyroid hormone resistance (GTHR) THB_HUMAN 345 G V 1n46 A 142 0.7 0.7 Generalized thyroid hormone resistance (GTHR) THB_HUMAN 347 G E 1n46 A 144 3.3 3.3 Generalized thyroid hormone resistance (GTHR) THB_HUMAN 431 I M 2pin A 223 0.4 0.4 Generalized thyroid hormone resistance (GTHR) THB_HUMAN 342 K I 1n46 A 139 16.8 16.8 Generalized thyroid hormone resistance (GTHR) THB_HUMAN 443 K E 3jzc A 245 21.8 21.8 Generalized thyroid hormone resistance (GTHR) THB_HUMAN 341 L P 1nq1 A 143 3.3 3.3 Generalized thyroid hormone resistance (GTHR) THB_HUMAN 346 L F 1nq0 A 148 11 11 Generalized thyroid hormone resistance (GTHR) THB_HUMAN 442 M V 1xzx X 262 2 2 Generalized thyroid hormone resistance (GTHR) THB_HUMAN 331 N D 1n46 A 128 10.6 10.6 Generalized thyroid hormone resistance (GTHR) THB_HUMAN 447 P T 1bsx B 246 32.9 32.9 Generalized thyroid hormone resistance (GTHR) THB_HUMAN 453 P H 1bsx B 252 75.7 63.5 Generalized thyroid hormone resistance (GTHR) THB_HUMAN 453 P L 1bsx B 252 75.7 63.5 Generalized thyroid hormone resistance (GTHR) THB_HUMAN 453 P S 1bsx B 252 75.7 63.5 Generalized thyroid hormone resistance (GTHR) THB_HUMAN 453 P T 1bsx B 252 75.7 63.5 Generalized thyroid hormone resistance (GTHR) THB_HUMAN 340 Q H 1n46 A 137 0.8 0.8 Generalized thyroid hormone resistance (GTHR) THB_HUMAN 243 R W 2pin A 35 11.8 11.8 Generalized thyroid hormone resistance (GTHR) THB_HUMAN 316 R H 1r6g A 114 2.1 2.1 Selective pituitary thyroid hormone resistance (PRTH) THB_HUMAN 320 R C 3d57 B 126 2.9 2.9 Generalized thyroid hormone resistance (GTHR) THB_HUMAN 320 R H 3d57 B 126 2.9 2.9 Generalized thyroid hormone resistance (GTHR) THB_HUMAN 338 R W 2pin B 130 35.1 26.6 Generalized thyroid hormone resistance (GTHR) THB_HUMAN 429 R Q 1nax A 221 24.8 10.2 Selective pituitary thyroid hormone resistance (PRTH) THB_HUMAN 438 R H 1nax A 230 14.9 10.7 Generalized thyroid hormone resistance (GTHR) THB_HUMAN 426 T I 1nax A 218 54.6 10.4 Generalized thyroid hormone resistance (GTHR) THB_HUMAN 348 V E 3jzc A 150 50.7 7.5 Generalized thyroid hormone resistance (GTHR) THBG_HUMAN 133 A P 2ceo A 97 0 0 TBG deficiency THBG_HUMAN 351 H Y 2ceo A 315 0 0 TBG deficiency THBG_HUMAN 116 I N 2riw A 79 1.7 1.7 TBG deficiency THBG_HUMAN 247 L P 2riv A 215 7.6 7.6 TBG deficiency THBG_HUMAN 383 P L 2xn3 B 8 89.3 48.5 TBG deficiency THBG_HUMAN 43 S T 2xn7 A 12 40.5 1.1 TBG deficiency THIL_HUMAN 301 A P 2ib7 D 269 1.4 1.4 3-ketothiolase deficiency (3KTD) THIL_HUMAN 333 A P 2ib7 A 301 0 0 3-ketothiolase deficiency (3KTD) THIL_HUMAN 380 A T 2f2s B 359 0 0 3-ketothiolase deficiency (3KTD) THIL_HUMAN 152 G A 2f2s A 131 0 0 3-ketothiolase deficiency (3KTD) THIL_HUMAN 183 G R 2f2s A 162 5.9 0 3-ketothiolase deficiency (3KTD) THIL_HUMAN 379 G V 2iby D 347 1.8 1.8 3-ketothiolase deficiency (3KTD) THIL_HUMAN 312 I T 2f2s B 291 1 1 3-ketothiolase deficiency (3KTD) THIL_HUMAN 158 N D 2ibu C 126 50.6 45.3 3-ketothiolase deficiency (3KTD) THIL_HUMAN 93 N S 2f2s A 72 0 0 3-ketothiolase deficiency (3KTD) THIL_HUMAN 297 T M 2iby D 265 1.5 1.5 3-ketothiolase deficiency (3KTD) TIE2_HUMAN 883 P A 3l8p A 76 49.1 49.1 An ovarian serous carcinoma sample TIE2_HUMAN 849 R W 2oo8 X 42 27.6 27.6 Dominantly inherited venous malformations (VMCM) TIE2_HUMAN 897 Y S 1fvr A 100 32.5 32.5 Dominantly inherited venous malformations (VMCM) TIE2_HUMAN 117 K N 2gy5 A 95 0.1 0.1 Breast cancer samples TLR3_HUMAN 554 P S 1ziw A 528 22.6 22.6 TLR3-deficient herpes simplex encephalitis (HSE) TNNC1_HUMAN 159 G R 1j1d D 159 31.4 31.4 Cardiomyopathy dilated type 1Z (CMD1Z) TNNI3_HUMAN 157 A V 1lxf I 10 74.1 1.5 Cardiomyopathy familial hypertrophic type 7 (CMH7) TNNI3_HUMAN 82 P S 1j1e C 52 67 61.4 Cardiomyopathy familial hypertrophic type 7 (CMH7) TNNI3_HUMAN 162 R P 2kgb I 18 76.4 54.9 Cardiomyopathy familial hypertrophic type 7 (CMH7) TNNI3_HUMAN 162 R Q 2kgb I 18 76.4 54.9 Cardiomyopathy familial hypertrophic type 7 (CMH7) TNNI3_HUMAN 145 R G 2l1r B 1 107.2 98.9 Cardiomyopathy familial hypertrophic type 7 (CMH7) TNNI3_HUMAN 145 R W 2l1r B 1 107.2 98.9 Cardiomyopathy familial restrictive type 1 (RCM1) TNNT2_HUMAN 254 E D 1j1e B 62 55.5 5.8 Cardiomyopathy familial hypertrophic type 2 (CMH2) TNNT2_HUMAN 281 N I 1j1d E 89 77.1 22.2 Cardiomyopathy familial hypertrophic type 2 (CMH2) TNNT2_HUMAN 215 R L 1j1e B 23 73.6 73.6 Cardiomyopathy dilated type 1D (CMD1D) TNR1A_HUMAN 117 C R 1ft4 B 78 14.6 14.6 Familial hibernian fever (FHF) TNR1A_HUMAN 117 C Y 1ft4 B 78 14.6 14.6 Familial hibernian fever (FHF) TNR1A_HUMAN 59 C R 1ft4 B 20 0.7 0 Familial hibernian fever (FHF) TNR1A_HUMAN 59 C S 1ft4 B 20 0.7 0 Familial hibernian fever (FHF) TNR1A_HUMAN 62 C G 1ft4 A 23 0.2 0 Familial hibernian fever (FHF) TNR1A_HUMAN 62 C Y 1ft4 A 23 0.2 0 Familial hibernian fever (FHF) TNR1A_HUMAN 81 C F 1ft4 B 42 31.5 9.5 Familial hibernian fever (FHF) TNR1A_HUMAN 99 C S 1tnr R 56 18.7 3.8 Familial hibernian fever (FHF) TNR1A_HUMAN 51 H Q 1ft4 B 12 4.9 4.9 Familial hibernian fever (FHF) TNR1A_HUMAN 75 P L 1ncf A 36 68.1 65.5 Familial hibernian fever (FHF) TNR1A_HUMAN 121 R P 1ext A 82 46.1 46.1 Familial hibernian fever (FHF) TNR1A_HUMAN 121 R Q 1ext A 82 46.1 46.1 Familial hibernian fever (FHF) TNR1A_HUMAN 115 S G 1ext A 76 20.7 20.7 Familial hibernian fever (FHF) TNR1A_HUMAN 79 T M 1ft4 B 40 3.9 2.1 Familial hibernian fever (FHF) TNR6_HUMAN 241 T K 3ewt E 12 79.1 24.4 Autoimmune lymphoproliferative syndrome type 1A (ALPS1A) TNR6_HUMAN 241 T P 3ewt E 12 79.1 24.4 Autoimmune lymphoproliferative syndrome type 1A (ALPS1A) TNR6_HUMAN 232 Y C 3ezq I 10 42.7 3.3 Autoimmune lymphoproliferative syndrome type 1A (ALPS1A) TNR6_HUMAN 257 A D 3ezq M 35 61 61 Autoimmune lymphoproliferative syndrome type 1A (ALPS1A) TNR6_HUMAN 260 D G 3ezq K 38 45.3 45.3 Autoimmune lymphoproliferative syndrome type 1A (ALPS1A) TNR6_HUMAN 260 D V 3ezq K 38 45.3 45.3 Autoimmune lymphoproliferative syndrome type 1A (ALPS1A) TNR6_HUMAN 260 D Y 3ezq K 38 45.3 45.3 Autoimmune lymphoproliferative syndrome type 1A (ALPS1A) TNR6_HUMAN 272 E G 3ezq K 50 36.6 36.6 Autoimmune lymphoproliferative syndrome type 1A (ALPS1A) TNR6_HUMAN 272 E K 3ezq K 50 36.6 36.6 Non-Hodgkin lymphoma TNR6_HUMAN 262 I S 3ezq I 40 4 4 Autoimmune lymphoproliferative syndrome type 1A (ALPS1A) TNR6_HUMAN 310 I S 3ezq I 88 27.5 2.7 Autoimmune lymphoproliferative syndrome type 1A (ALPS1A) TNR6_HUMAN 299 K N 3ezq M 77 58.7 3.9 Non-Hodgkin lymphoma TNR6_HUMAN 278 L F 3ezq I 56 0.1 0.1 Non-Hodgkin lymphoma TNR6_HUMAN 255 N D 3ezq O 33 53.1 53.1 Squamous cell carcinoma TNR6_HUMAN 264 N K 3ezq O 42 72.4 72.4 Non-Hodgkin lymphoma TNR6_HUMAN 250 R P 3ezq O 28 44.9 44.9 Autoimmune lymphoproliferative syndrome type 1A (ALPS1A) TNR6_HUMAN 250 R Q 3ezq O 28 44.9 44.9 Autoimmune lymphoproliferative syndrome type 1A (ALPS1A) TNR6_HUMAN 270 T I 3ezq O 48 46.4 46.4 Autoimmune lymphoproliferative syndrome type 1A (ALPS1A) TOP1_HUMAN 533 D G 1ej9 A 331 49.1 4.8 CPT-resistant leukemia TOP1_HUMAN 326 K R 1ej9 A 124 22.1 22.1 Breast cancer TOP1_HUMAN 370 M T 1sc7 A 197 0 0 CPT-resistant leukemia TOP1_HUMAN 722 N S 1a36 A 548 40.8 5.4 CPT-resistant leukemia TOP1_HUMAN 729 T A 1rr8 C 529 0 0 CPT-resistant lung cancer TPIS_HUMAN 42 C Y 1wyi A 6 13.7 13.7 Triosephosphate isomerase deficiency (TPI deficiency) TPIS_HUMAN 105 E D 2jk2 B 69 18.4 4.7 Triosephosphate isomerase deficiency (TPI deficiency) TPIS_HUMAN 241 F L 1wyi B 205 32 32 Triosephosphate isomerase deficiency (TPI deficiency) TPIS_HUMAN 73 G A 2ian M 14 84.6 79.4 Triosephosphate isomerase deficiency (TPI deficiency) TPIS_HUMAN 171 I V 1hti B 133 14.2 14.2 Triosephosphate isomerase deficiency (TPI deficiency) TPIS_HUMAN 155 V M 1wyi A 119 12.7 12.7 Triosephosphate isomerase deficiency (TPI deficiency) TPIS_HUMAN 232 V M 1wyi B 196 73 73 Triosephosphate isomerase deficiency (TPI deficiency) TPMT_HUMAN 154 A T 2h11 A 141 0.1 0.1 Thiopurine S-methyltransferase deficiency (TPMT deficiency) TPMT_HUMAN 80 A P 2h11 A 67 10.7 10.7 Thiopurine S-methyltransferase deficiency (TPMT deficiency) TPMT_HUMAN 227 H Q 2bzg A 214 2.3 2.3 Thiopurine S-methyltransferase deficiency (TPMT deficiency) TPMT_HUMAN 215 R H 2bzg A 202 53 53 Thiopurine S-methyltransferase deficiency (TPMT deficiency) TPMT_HUMAN 240 Y C 2bzg A 227 0.8 0.8 Thiopurine S-methyltransferase deficiency (TPMT deficiency) TPP1_HUMAN 454 A E 3edy A 435 0 0 Neuronal ceroid lipofuscinosis type 2 (CLN2) TPP1_HUMAN 365 C R 3ee6 A 365 40.9 40.9 Neuronal ceroid lipofuscinosis type 2 (CLN2) TPP1_HUMAN 365 C Y 3ee6 A 365 40.9 40.9 Neuronal ceroid lipofuscinosis type 2 (CLN2) TPP1_HUMAN 343 E K 3edy A 324 3.3 3.3 Neuronal ceroid lipofuscinosis type 2 (CLN2) TPP1_HUMAN 481 F C 3edy A 462 0.5 0.5 Neuronal ceroid lipofuscinosis type 2 (CLN2) TPP1_HUMAN 284 G V 3ee6 B 284 0 0 Neuronal ceroid lipofuscinosis type 2 (CLN2) TPP1_HUMAN 389 G E 3edy A 370 0 0 Neuronal ceroid lipofuscinosis type 2 (CLN2) TPP1_HUMAN 473 G R 3edy A 454 0.3 0.3 Neuronal ceroid lipofuscinosis type 2 (CLN2) TPP1_HUMAN 482 G R 3edy A 463 0 0 Neuronal ceroid lipofuscinosis type 2 (CLN2) TPP1_HUMAN 77 G R 3edy A 58 7.7 7.7 Neuronal ceroid lipofuscinosis type 2 (CLN2) TPP1_HUMAN 287 I N 3ee6 B 287 0.4 0.4 Neuronal ceroid lipofuscinosis type 2 (CLN2) TPP1_HUMAN 428 K N 3ee6 A 428 61.2 61.2 Neuronal ceroid lipofuscinosis type 2 (CLN2) TPP1_HUMAN 286 N S 3ee6 B 286 24.5 24.5 Neuronal ceroid lipofuscinosis type 2 (CLN2) TPP1_HUMAN 278 Q P 3edy A 259 0.6 0.6 Neuronal ceroid lipofuscinosis type 2 (CLN2) TPP1_HUMAN 422 Q H 3ee6 B 422 0.1 0.1 Neuronal ceroid lipofuscinosis type 2 (CLN2) TPP1_HUMAN 127 R Q 3ee6 A 127 45.1 45.1 Neuronal ceroid lipofuscinosis type 2 (CLN2) TPP1_HUMAN 206 R C 3edy A 187 5.2 5.2 Neuronal ceroid lipofuscinosis type 2 (CLN2) TPP1_HUMAN 206 R H 3edy A 187 5.2 5.2 Neuronal ceroid lipofuscinosis type 2 (CLN2) TPP1_HUMAN 447 R H 3edy A 428 0 0 Neuronal ceroid lipofuscinosis type 2 (CLN2) TPP1_HUMAN 153 S P 3ee6 B 153 1.7 1.7 Neuronal ceroid lipofuscinosis type 2 (CLN2) TPP1_HUMAN 475 S L 3ee6 A 475 13 13 Neuronal ceroid lipofuscinosis type 2 (CLN2) TPP1_HUMAN 353 T P 3ee6 A 353 0.7 0.7 Neuronal ceroid lipofuscinosis type 2 (CLN2) TPP1_HUMAN 277 V M 3edy A 258 0.8 0.8 Neuronal ceroid lipofuscinosis type 2 (CLN2) TPP1_HUMAN 385 V D 3ee6 A 385 0.3 0.3 Neuronal ceroid lipofuscinosis type 2 (CLN2) TR13B_HUMAN 104 C R 1xu1 T 37 10.1 10.1 Common variable immunodeficiency (CVID) TREM1_HUMAN 97 R S 1smo B 77 26.6 3.5 A breast cancer sample TRFE_HUMAN 77 D N 1a8f A 56 0 0 Atransferrinemia (ATRAF) TRFE_HUMAN 477 A P 2hau A 455 0 0 Atransferrinemia (ATRAF) TRY1_HUMAN 139 C F 1fxy A 120 1.2 1.2 Hereditary pancreatitis (HPC) TRY1_HUMAN 137 T M 2ra3 B 114 10.9 10.9 A colorectal cancer sample TRY1_HUMAN 79 E K 2ra3 A 56 75.1 16.7 Hereditary pancreatitis (HPC) TRY1_HUMAN 104 L P 2ra3 A 81 22.9 4.2 Hereditary pancreatitis (HPC) TRY1_HUMAN 29 N I 2ra3 B 6 31.1 31.1 Hereditary pancreatitis (HPC) TRY1_HUMAN 29 N T 2ra3 B 6 31.1 31.1 Hereditary pancreatitis (HPC) TRY1_HUMAN 54 N S 2ra3 B 31 33.1 33.1 Hereditary pancreatitis (HPC) TRY1_HUMAN 116 R C 2ra3 B 93 57.2 57.2 Hereditary pancreatitis (HPC) TRY1_HUMAN 122 R C 2ra3 A 99 25.3 25.3 Hereditary pancreatitis (HPC) TRY1_HUMAN 122 R H 2ra3 A 99 25.3 25.3 Hereditary pancreatitis (HPC) TSHR_HUMAN 41 C S 2xwt C 20 0 0 Congenital hypothyroidism non-goitrous type 1 (CHNG1) TSHR_HUMAN 219 D E 2xwt C 198 26.8 14.2 Papillary cancer TSHR_HUMAN 197 F I 3g04 C 176 0.1 0.1 Papillary cancer TSHR_HUMAN 167 I N 2xwt C 146 0 0 Congenital hypothyroidism non-goitrous type 1 (CHNG1) TSHR_HUMAN 183 K R 3g04 C 162 34.7 2.7 Familial gestational hyperthyroidism (FGH) TSHR_HUMAN 252 L P 3g04 C 231 48.4 48.4 Congenital hypothyroidism non-goitrous type 1 (CHNG1) TSHR_HUMAN 162 P A 3g04 C 141 47.4 47.4 Congenital hypothyroidism non-goitrous type 1 (CHNG1) TSHR_HUMAN 109 R Q 3g04 C 88 41.8 16.4 Congenital hypothyroidism non-goitrous type 1 (CHNG1) TTHY_HUMAN 111 A S 1e4h B 91 0 0 Amyloidosis type 1 (AMYL1) TTHY_HUMAN 117 A G 1bm7 A 97 0 0 Amyloidosis type 1 (AMYL1) TTHY_HUMAN 117 A S 1bm7 A 97 0 0 Amyloidosis type 1 (AMYL1) TTHY_HUMAN 140 A S 1qwh B 110 59.5 0 Amyloidosis type 1 (AMYL1) TTHY_HUMAN 56 A P 3dk2 A 36 2.3 2.3 Amyloidosis type 1 (AMYL1) TTHY_HUMAN 65 A D 1bze B 45 7.6 7.6 Amyloidosis type 1 (AMYL1) TTHY_HUMAN 65 A S 1bze B 45 7.6 7.6 Amyloidosis type 1 (AMYL1) TTHY_HUMAN 65 A T 1bze B 45 7.6 7.6 Amyloidosis type 1 (AMYL1) TTHY_HUMAN 30 C R 2try B 10 6.6 6.6 Amyloidosis type 1 (AMYL1) TTHY_HUMAN 38 D E 1bze A 18 1.6 0 Amyloidosis type 1 (AMYL1) TTHY_HUMAN 38 D G 1bze A 18 1.6 0 Amyloidosis type 7 (AMYL7) TTHY_HUMAN 58 D A 2b14 B 38 43 43 Amyloidosis type 1 (AMYL1) TTHY_HUMAN 58 D V 2b14 B 38 43 43 Amyloidosis type 1 (AMYL1) TTHY_HUMAN 109 E K 2g3z B 89 11.5 1.4 Amyloidosis type 1 (AMYL1) TTHY_HUMAN 109 E Q 2g3z B 89 11.5 1.4 Amyloidosis type 1 (AMYL1) TTHY_HUMAN 62 E D 3cbr A 42 18.2 18.2 Amyloidosis type 1 (AMYL1) TTHY_HUMAN 62 E G 3cbr A 42 18.2 18.2 Amyloidosis type 1 (AMYL1) TTHY_HUMAN 74 E G 3a4e B 54 3.7 3.7 Amyloidosis type 1 (AMYL1) TTHY_HUMAN 74 E K 3a4e B 54 3.7 3.7 Amyloidosis type 1 (AMYL1) TTHY_HUMAN 81 E G 1eta 1 61 19.7 19.7 Amyloidosis type 1 (AMYL1) TTHY_HUMAN 81 E K 1eta 1 61 19.7 19.7 Amyloidosis type 1 (AMYL1) TTHY_HUMAN 53 F I 3i9p B 24 13.8 13.8 Amyloidosis type 1 (AMYL1) TTHY_HUMAN 53 F L 3i9p B 24 13.8 13.8 Amyloidosis type 1 (AMYL1) TTHY_HUMAN 53 F V 3i9p B 24 13.8 13.8 Amyloidosis type 1 (AMYL1) TTHY_HUMAN 64 F S 3do4 F 44 4.2 4.2 Amyloidosis type 1 (AMYL1) TTHY_HUMAN 84 F L 3cbr B 64 0.3 0.3 Amyloidosis type 1 (AMYL1) TTHY_HUMAN 67 G A 1bz8 B 47 19.2 19.2 Amyloidosis type 1 (AMYL1) TTHY_HUMAN 67 G E 1bz8 B 47 19.2 19.2 Amyloidosis type 1 (AMYL1) TTHY_HUMAN 67 G R 1bz8 B 47 19.2 19.2 Amyloidosis type 1 (AMYL1) TTHY_HUMAN 67 G V 1bz8 B 47 19.2 19.2 Amyloidosis type 1 (AMYL1) TTHY_HUMAN 73 G E 1bm7 A 53 0 0 Amyloidosis type 1 (AMYL1) TTHY_HUMAN 104 I N 1qab D 84 32.1 0.5 Amyloidosis type 1 (AMYL1) TTHY_HUMAN 104 I S 1qab D 84 32.1 0.5 Amyloidosis type 1 (AMYL1) TTHY_HUMAN 104 I T 1qab D 84 32.1 0.5 Amyloidosis type 1 (AMYL1) TTHY_HUMAN 127 I M 1e4h A 107 0.5 0 Amyloidosis type 1 (AMYL1) TTHY_HUMAN 127 I V 1e4h A 107 0.5 0 Amyloidosis type 1 (AMYL1) TTHY_HUMAN 88 I L 3gps B 68 25.3 10 Amyloidosis type 1 (AMYL1) TTHY_HUMAN 93 I V 1bm7 B 73 0 0 Amyloidosis type 1 (AMYL1) TTHY_HUMAN 55 K N 1x7s B 35 15.3 15.3 Amyloidosis type 1 (AMYL1) TTHY_HUMAN 90 K N 3cfn A 61 11.7 4.9 Amyloidosis type 1 (AMYL1) TTHY_HUMAN 131 L M 1bze A 111 0.3 0.3 Amyloidosis type 1 (AMYL1) TTHY_HUMAN 32 L P 1bm7 A 12 0 0 Amyloidosis type 1 (AMYL1) TTHY_HUMAN 75 L P 1bz8 A 55 0 0 Amyloidosis type 1 (AMYL1) TTHY_HUMAN 75 L Q 1bz8 A 55 0 0 Amyloidosis type 1 (AMYL1) TTHY_HUMAN 78 L H 1bzd B 58 0 0 Amyloidosis type 1 (AMYL1) TTHY_HUMAN 78 L R 1bzd B 58 0 0 Amyloidosis type 1 (AMYL1) TTHY_HUMAN 44 P S 2qel D 24 15.5 1.1 Amyloidosis type 1 (AMYL1) TTHY_HUMAN 54 R T 3ipb B 34 17.4 17.4 Amyloidosis type 1 (AMYL1) TTHY_HUMAN 43 S N 1qab D 23 30.6 8.3 Amyloidosis type 1 (AMYL1) TTHY_HUMAN 70 S I 1tta B 50 13.4 13.4 Amyloidosis type 1 (AMYL1) TTHY_HUMAN 70 S R 1tta B 50 13.4 13.4 Amyloidosis type 1 (AMYL1) TTHY_HUMAN 72 S P 1ttb B 52 43.2 18.5 Amyloidosis type 1 (AMYL1) TTHY_HUMAN 97 S Y 3gps B 77 40.1 40.1 Amyloidosis type 1 (AMYL1) TTHY_HUMAN 126 T N 1tyr B 106 5.4 5.4 Amyloidosis type 1 (AMYL1) TTHY_HUMAN 69 T A 1iik A 49 0 0 Amyloidosis type 1 (AMYL1) TTHY_HUMAN 69 T I 1iik A 49 0 0 Amyloidosis type 1 (AMYL1) TTHY_HUMAN 79 T K 1bzd B 59 0.1 0.1 Amyloidosis type 1 (AMYL1) TTHY_HUMAN 80 T A 1bzd A 60 0 0 Amyloidosis type 1 (AMYL1) TTHY_HUMAN 142 V A 2wqa A 124 44.5 3.6 Amyloidosis type 1 (AMYL1) TTHY_HUMAN 142 V I 2wqa A 124 44.5 3.6 Amyloidosis type 1 (AMYL1) TTHY_HUMAN 40 V I 1qab A 20 56.9 0 Amyloidosis type 1 (AMYL1) TTHY_HUMAN 48 V M 3d7p B 28 0 0 Amyloidosis type 1 (AMYL1) TTHY_HUMAN 50 V A 1bm7 A 30 0 0 Amyloidosis type 1 (AMYL1) TTHY_HUMAN 50 V G 1bm7 A 30 0 0 Amyloidosis type 1 (AMYL1) TTHY_HUMAN 50 V L 1bm7 A 30 0 0 Amyloidosis type 1 (AMYL1) TTHY_HUMAN 50 V M 1bm7 A 30 0 0 Amyloidosis type 1 (AMYL1) TTHY_HUMAN 91 V A 1bm7 A 71 0 0 Amyloidosis type 1 (AMYL1) TTHY_HUMAN 61 W L 1qab B 41 25.3 19.5 Amyloidosis type 1 (AMYL1) TTHY_HUMAN 134 Y C 1rlb B 114 64.5 1.5 Amyloidosis type 1 (AMYL1) TTHY_HUMAN 134 Y H 1rlb B 114 64.5 1.5 Amyloidosis type 1 (AMYL1) TTHY_HUMAN 136 Y S 3d7p B 116 33.7 0.9 Amyloidosis type 1 (AMYL1) TTHY_HUMAN 89 Y H 1bm7 A 69 0 0 Amyloidosis type 7 (AMYL7) TTHY_HUMAN 98 Y F 3d7p B 78 2.2 2.2 Amyloidosis type 1 (AMYL1) TTHY_HUMAN 144 N S 1rlb D 124 38.4 38.4 Amyloidosis type 1 (AMYL1) TTPA_HUMAN 120 A T 1oiz A 120 57.6 57.6 Ataxia with isolated vitamin E deficiency (AVED) TTPA_HUMAN 141 E K 1r5l A 125 0.9 0.9 Ataxia with isolated vitamin E deficiency (AVED) TTPA_HUMAN 246 G R 1oip A 246 31.9 31.9 Ataxia with isolated vitamin E deficiency (AVED) TTPA_HUMAN 101 H Q 1oip A 101 0 0 Ataxia with isolated vitamin E deficiency (AVED) TTPA_HUMAN 192 R H 1oip A 192 36.2 36.2 Ataxia with isolated vitamin E deficiency (AVED) TTPA_HUMAN 221 R W 1r5l A 205 21.6 21.6 Ataxia with isolated vitamin E deficiency (AVED) TTPA_HUMAN 59 R W 1oiz A 59 12.3 12.3 Ataxia with isolated vitamin E deficiency (AVED) TULP1_HUMAN 496 A T 2fim A 230 75.9 75.9 Retinitis pigmentosa type 14 (RP14) TULP1_HUMAN 382 F S 3c5n A 92 0.8 0.8 Retinitis pigmentosa type 14 (RP14) TULP1_HUMAN 491 F L 3c5n A 201 5.7 5.7 Retinitis pigmentosa type 14 (RP14) TULP1_HUMAN 459 I K 2fim A 193 23.8 23.8 Retinitis pigmentosa type 14 (RP14) TULP1_HUMAN 489 K R 3c5n A 199 10.7 10.7 Retinitis pigmentosa type 14 (RP14) TULP1_HUMAN 378 R H 3c5n A 88 28.6 28.6 Retinitis pigmentosa type 14 (RP14) TULP1_HUMAN 420 R P 2fim A 154 48.1 48.1 Retinitis pigmentosa type 14 (RP14) TULP1_HUMAN 454 T M 2fim A 188 57 57 Retinitis pigmentosa type 14 (RP14) TWF2_HUMAN 103 A T 2vac A 100 68.2 68.2 A lung neuroendocrine carcinoma sample TYDP1_HUMAN 493 H R 1nop A 370 7 0.2 Spinocerebellar ataxia autosomal recessive with axonal neuropathy (SCAN1) TYPH_HUMAN 289 E A 2wk5 B 289 1.1 1.1 Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) TYPH_HUMAN 145 G R 2wk6 A 145 4.8 4.8 Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) TYPH_HUMAN 153 G S 2wk5 D 153 2.1 2.1 Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) TYPH_HUMAN 222 K R 2wk6 A 222 0 0 Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) TYPH_HUMAN 44 R Q 1uou A 38 57.6 5.7 Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) UNG_HUMAN 251 F S 1akz A 161 0 0 Immunodeficiency with hyper-IgM type 5 syndrome (HIGM5) VGFR1_HUMAN 1061 L V 3hng A 263 23.9 23.9 A bladder transitional cell carcinoma sample VGFR2_HUMAN 873 G R 3vhe A 63 48.7 48.7 A colorectal cancer sample VGFR2_HUMAN 248 A G 2x1x R 129 0 0 A renal clear cell carcinoma sample VGFR2_HUMAN 275 R L 3s35 X 59 81.1 44.6 A colorectal cancer sample VHL_HUMAN 149 A T 1lm8 V 96 0 0 Von Hippel-Lindau disease (VHLD) VHL_HUMAN 162 C F 1lm8 V 109 50.5 0 Von Hippel-Lindau disease (VHLD) VHL_HUMAN 162 C R 1lm8 V 109 50.5 0 Von Hippel-Lindau disease (VHLD) VHL_HUMAN 162 C W 1lm8 V 109 50.5 0 Von Hippel-Lindau disease (VHLD) VHL_HUMAN 162 C Y 1lm8 V 109 50.5 0 Von Hippel-Lindau disease (VHLD) VHL_HUMAN 121 D G 1vcb C 68 8.9 8.9 Von Hippel-Lindau disease (VHLD) VHL_HUMAN 126 D Y 1lqb C 75 2.8 2.8 Erythrocytosis familial type 2 (ECYT2) VHL_HUMAN 143 D E 1vcb C 90 80 80 Von Hippel-Lindau disease (VHLD) VHL_HUMAN 186 E K 1lm8 V 133 45.4 45.4 Von Hippel-Lindau disease (VHLD) VHL_HUMAN 70 E K 1lm8 V 17 35.5 35.5 Von Hippel-Lindau disease (VHLD) VHL_HUMAN 119 F L 1lm8 V 66 0.1 0.1 Pheochromocytoma VHL_HUMAN 119 F S 1lm8 V 66 0.1 0.1 Von Hippel-Lindau disease (VHLD) VHL_HUMAN 136 F C 1lqb C 85 5 2 Pheochromocytoma VHL_HUMAN 136 F S 1lqb C 85 5 2 Von Hippel-Lindau disease (VHLD) VHL_HUMAN 136 F Y 1lqb C 85 5 2 Von Hippel-Lindau disease (VHLD) VHL_HUMAN 76 F I 1lqb C 25 0.4 0.4 Von Hippel-Lindau disease (VHLD) VHL_HUMAN 76 F L 1lqb C 25 0.4 0.4 Von Hippel-Lindau disease (VHLD) VHL_HUMAN 76 F S 1lqb C 25 0.4 0.4 Von Hippel-Lindau disease (VHLD) VHL_HUMAN 106 G D 1lqb C 55 60.4 0 Lung cancer VHL_HUMAN 114 G C 1lqb C 63 19.9 11.4 Von Hippel-Lindau disease (VHLD) VHL_HUMAN 114 G R 1lqb C 63 19.9 11.4 Von Hippel-Lindau disease (VHLD) VHL_HUMAN 114 G S 1lqb C 63 19.9 11.4 Von Hippel-Lindau disease (VHLD) VHL_HUMAN 93 G C 1lm8 V 40 11 11 Pheochromocytoma VHL_HUMAN 93 G D 1lm8 V 40 11 11 Von Hippel-Lindau disease (VHLD) VHL_HUMAN 93 G S 1lm8 V 40 11 11 Pheochromocytoma VHL_HUMAN 115 H Q 1lqb C 64 6.3 0 Von Hippel-Lindau disease (VHLD) VHL_HUMAN 115 H R 1lqb C 64 6.3 0 Von Hippel-Lindau disease (VHLD) VHL_HUMAN 115 H Y 1lqb C 64 6.3 0 Von Hippel-Lindau disease (VHLD) VHL_HUMAN 191 H D 1vcb C 138 45.7 45.7 Erythrocytosis familial type 2 (ECYT2) VHL_HUMAN 147 I T 1lqb C 96 22.1 2.8 Pheochromocytoma VHL_HUMAN 180 I V 1lqb C 129 38 8 Von Hippel-Lindau disease (VHLD) VHL_HUMAN 122 A I 1lqb C 71 25.8 25.8 Pheochromocytoma VHL_HUMAN 101 L G 1lqb C 50 0.5 0 Von Hippel-Lindau disease (VHLD) VHL_HUMAN 159 K E 1lqb C 108 53.1 25.2 Von Hippel-Lindau disease (VHLD) VHL_HUMAN 101 L R 1lqb C 50 0.5 0 Von Hippel-Lindau disease (VHLD) VHL_HUMAN 116 L V 1lqb C 65 11.5 1.4 Von Hippel-Lindau disease (VHLD) VHL_HUMAN 118 L P 1lm8 V 65 0 0 Von Hippel-Lindau disease (VHLD) VHL_HUMAN 118 L R 1lm8 V 65 0 0 Von Hippel-Lindau disease (VHLD) VHL_HUMAN 128 L F 1vcb C 75 0.4 0.4 Von Hippel-Lindau disease (VHLD) VHL_HUMAN 158 L P 1lm8 V 105 79.9 0 Von Hippel-Lindau disease (VHLD) VHL_HUMAN 158 L V 1lm8 V 105 79.9 0 Von Hippel-Lindau disease (VHLD) VHL_HUMAN 163 L P 1vcb C 110 10.1 3.1 Renal cell carcinoma type 1 (RCC1) VHL_HUMAN 178 L P 1lqb C 127 31.3 2.6 Von Hippel-Lindau disease (VHLD) VHL_HUMAN 178 L Q 1lqb C 127 31.3 2.6 Von Hippel-Lindau disease (VHLD) VHL_HUMAN 184 L P 1lqb C 133 26.3 0 Von Hippel-Lindau disease (VHLD) VHL_HUMAN 184 L R 1lqb C 133 26.3 0 Von Hippel-Lindau disease (VHLD) VHL_HUMAN 188 L P 1vcb C 135 1.4 0 Von Hippel-Lindau disease (VHLD) VHL_HUMAN 188 L Q 1vcb C 135 1.4 0 Von Hippel-Lindau disease (VHLD) VHL_HUMAN 188 L V 1vcb C 135 1.4 0 Erythrocytosis familial type 2 (ECYT2) VHL_HUMAN 198 L Q 1vcb C 145 4.9 4.9 Pheochromocytoma VHL_HUMAN 198 L R 1vcb C 145 4.9 4.9 Von Hippel-Lindau disease (VHLD) VHL_HUMAN 63 L P 1lm8 V 10 4.3 4.3 Pheochromocytoma VHL_HUMAN 89 L H 1vcb C 36 0 0 Lung cancer VHL_HUMAN 89 L P 1vcb C 36 0 0 Von Hippel-Lindau disease (VHLD) VHL_HUMAN 131 N K 1lqb C 80 43.9 20.7 Von Hippel-Lindau disease (VHLD) VHL_HUMAN 131 N T 1lqb C 80 43.9 20.7 Von Hippel-Lindau disease (VHLD) VHL_HUMAN 78 N H 1lm8 V 25 1.8 0 Von Hippel-Lindau disease (VHLD) VHL_HUMAN 78 N S 1lm8 V 25 1.8 0 Von Hippel-Lindau disease (VHLD) VHL_HUMAN 78 N T 1lm8 V 25 1.8 0 Von Hippel-Lindau disease (VHLD) VHL_HUMAN 154 P L 1lqb C 103 21.6 16.3 Von Hippel-Lindau disease (VHLD) VHL_HUMAN 192 P S 1lqb C 141 22.7 22.7 Erythrocytosis familial type 2 (ECYT2) VHL_HUMAN 81 P S 1lqb C 30 65 42 Von Hippel-Lindau disease (VHLD) VHL_HUMAN 86 P A 1lqb C 35 0.4 0.4 Von Hippel-Lindau disease (VHLD) VHL_HUMAN 86 P H 1lqb C 35 0.4 0.4 Von Hippel-Lindau disease (VHLD) VHL_HUMAN 86 P L 1lqb C 35 0.4 0.4 Von Hippel-Lindau disease (VHLD) VHL_HUMAN 86 P R 1lqb C 35 0.4 0.4 Von Hippel-Lindau disease (VHLD) VHL_HUMAN 86 P S 1lqb C 35 0.4 0.4 Von Hippel-Lindau disease (VHLD) VHL_HUMAN 145 Q H 1vcb C 92 52.3 52.3 Von Hippel-Lindau disease (VHLD) VHL_HUMAN 164 Q H 1lqb C 113 7.3 7.3 Von Hippel-Lindau disease (VHLD) VHL_HUMAN 164 Q R 1lqb C 113 7.3 7.3 Von Hippel-Lindau disease (VHLD) VHL_HUMAN 96 Q P 1lm8 V 43 37.2 37.2 Von Hippel-Lindau disease (VHLD) VHL_HUMAN 107 R G 1lqb C 56 32.3 7.8 Pheochromocytoma VHL_HUMAN 107 R P 1lqb C 56 32.3 7.8 Von Hippel-Lindau disease (VHLD) VHL_HUMAN 161 R G 1lqb C 110 45.5 12.1 Von Hippel-Lindau disease (VHLD) VHL_HUMAN 161 R P 1lqb C 110 45.5 12.1 Pheochromocytoma VHL_HUMAN 161 R Q 1lqb C 110 45.5 12.1 Pheochromocytoma VHL_HUMAN 167 R G 1vcb C 114 14.5 14.5 Von Hippel-Lindau disease (VHLD) VHL_HUMAN 167 R Q 1vcb C 114 14.5 14.5 Pheochromocytoma VHL_HUMAN 167 R W 1vcb C 114 14.5 14.5 Pheochromocytoma VHL_HUMAN 176 R W 1vcb C 123 40.5 40.5 Von Hippel-Lindau disease (VHLD) VHL_HUMAN 200 R W 1lm8 V 147 40.2 40.2 Erythrocytosis familial type 2 (ECYT2) VHL_HUMAN 64 R P 1lm8 V 11 28.6 27.2 Pheochromocytoma VHL_HUMAN 79 R P 1lqb C 28 62 12.4 Von Hippel-Lindau disease (VHLD) VHL_HUMAN 82 R P 1lm8 V 29 15.4 11.2 Von Hippel-Lindau disease (VHLD) VHL_HUMAN 111 S C 1lqb C 60 3.2 0.6 Von Hippel-Lindau disease (VHLD) VHL_HUMAN 111 S N 1lqb C 60 3.2 0.6 Von Hippel-Lindau disease (VHLD) VHL_HUMAN 111 S R 1lqb C 60 3.2 0.6 Von Hippel-Lindau disease (VHLD) VHL_HUMAN 65 S A 1lm8 V 12 0 0 Pheochromocytoma VHL_HUMAN 65 S L 1lm8 V 12 0 0 Von Hippel-Lindau disease (VHLD) VHL_HUMAN 65 S W 1lm8 V 12 0 0 Von Hippel-Lindau disease (VHLD) VHL_HUMAN 68 S W 1lm8 V 15 9.9 9.9 Pheochromocytoma VHL_HUMAN 80 S I 1lqb C 29 8.2 0.1 Von Hippel-Lindau disease (VHLD) VHL_HUMAN 80 S N 1lqb C 29 8.2 0.1 Pheochromocytoma VHL_HUMAN 80 S R 1lqb C 29 8.2 0.1 Von Hippel-Lindau disease (VHLD) VHL_HUMAN 105 T P 1lqb C 54 38.3 5.8 Von Hippel-Lindau disease (VHLD) VHL_HUMAN 157 T I 1vcb C 104 65.4 50.1 Von Hippel-Lindau disease (VHLD) VHL_HUMAN 130 V L 1lm8 V 77 0.5 0.5 Erythrocytosis familial type 2 (ECYT2) VHL_HUMAN 155 V G 1vcb C 102 99.7 21.9 Von Hippel-Lindau disease (VHLD) VHL_HUMAN 155 V M 1vcb C 102 99.7 21.9 Von Hippel-Lindau disease (VHLD) VHL_HUMAN 166 V D 1lqb C 115 32.1 0 Von Hippel-Lindau disease (VHLD) VHL_HUMAN 166 V F 1lqb C 115 32.1 0 Von Hippel-Lindau disease (VHLD) VHL_HUMAN 170 V D 1lqb C 119 15 2 Von Hippel-Lindau disease (VHLD) VHL_HUMAN 170 V F 1lqb C 119 15 2 Von Hippel-Lindau disease (VHLD) VHL_HUMAN 170 V G 1lqb C 119 15 2 Von Hippel-Lindau disease (VHLD) VHL_HUMAN 74 V G 1vcb C 21 0 0 Von Hippel-Lindau disease (VHLD) VHL_HUMAN 84 V L 1lm8 V 31 0 0 Von Hippel-Lindau disease (VHLD) VHL_HUMAN 117 W C 1lm8 V 64 2.7 0.1 Von Hippel-Lindau disease (VHLD) VHL_HUMAN 88 W R 1lqb C 37 10.8 2.2 Von Hippel-Lindau disease (VHLD) VHL_HUMAN 88 W S 1lqb C 37 10.8 2.2 Von Hippel-Lindau disease (VHLD) VHL_HUMAN 112 Y H 1lqb C 61 39.7 6.3 Von Hippel-Lindau disease (VHLD) VHL_HUMAN 112 Y N 1lqb C 61 39.7 6.3 Von Hippel-Lindau disease (VHLD) VHL_HUMAN 156 Y C 1lm8 V 103 19.2 11.5 Pheochromocytoma VHL_HUMAN 156 Y D 1lm8 V 103 19.2 11.5 Von Hippel-Lindau disease (VHLD) VHL_HUMAN 156 Y N 1lm8 V 103 19.2 11.5 Pheochromocytoma VHL_HUMAN 175 Y D 1vcb C 122 1.5 1.5 Von Hippel-Lindau disease (VHLD) VHL_HUMAN 98 Y H 1lqb C 47 39.3 14.5 Pheochromocytoma VINC_HUMAN 975 R W 3h2u A 29 32.6 32.6 Cardiomyopathy dilated type 1W (CMD1W) WASP_HUMAN 270 L P 1ej5 A 29 0 0 X-linked severe congenital neutropenia (XLN) WASP_HUMAN 476 K E 1t84 A 91 75.4 75.4 Wiskott-Aldrich syndrome (WAS) WRN_HUMAN 92 G V 2fbv A 61 98.1 98.1 A colorectal cancer sample WRN_HUMAN 125 K N 2fc0 A 94 30.2 30.2 Werner syndrome (WRN) WRN_HUMAN 135 K E 2fc0 A 104 0.3 0.3 Werner syndrome (WRN) WT1_HUMAN 385 C R 2jp9 A 69 0 0 Denys-Drash syndrome (DDS) WT1_HUMAN 388 C F 2prt A 72 39.7 39.7 Denys-Drash syndrome (DDS) WT1_HUMAN 388 C Y 2prt A 72 39.7 39.7 Denys-Drash syndrome (DDS) WT1_HUMAN 396 D G 2jp9 A 80 43.8 9.5 Denys-Drash syndrome (DDS) WT1_HUMAN 396 D N 2jp9 A 80 43.8 9.5 Denys-Drash syndrome (DDS) WT1_HUMAN 396 D Y 2jp9 A 80 43.8 9.5 Denys-Drash syndrome (DDS) WT1_HUMAN 383 F L 2jpa A 67 31.5 24.6 Isolated diffuse mesangial sclerosis (IDMS) WT1_HUMAN 392 F L 2jp9 A 76 14.8 0.7 Frasier syndrome (FS) WT1_HUMAN 401 H Y 2jp9 A 85 13.3 2.7 Denys-Drash syndrome (DDS) WT1_HUMAN 405 H R 2jpa A 89 35.9 35.9 Denys-Drash syndrome (DDS) WT1_HUMAN 398 L P 2prt A 82 19.4 19.4 Denys-Drash syndrome (DDS) WT1_HUMAN 394 R L 2jp9 A 78 28.8 1.7 Wilms tumor 1 (WT1) WT1_HUMAN 394 R P 2jp9 A 78 28.8 1.7 Denys-Drash syndrome (DDS) WT1_HUMAN 394 R Q 2jp9 A 78 28.8 1.7 Denys-Drash syndrome (DDS) WT1_HUMAN 394 R W 2jp9 A 78 28.8 1.7 Denys-Drash syndrome (DDS) WT1_HUMAN 330 C Y 2jpa A 14 17 17 Denys-Drash syndrome (DDS) WT1_HUMAN 355 C G 2jp9 A 39 6.9 6.9 Wilms tumor 1 (WT1) WT1_HUMAN 355 C Y 2jp9 A 39 6.9 6.9 Denys-Drash syndrome (DDS) WT1_HUMAN 360 C G 2jpa A 44 14.5 14.5 Denys-Drash syndrome (DDS) WT1_HUMAN 360 C Y 2jpa A 44 14.5 14.5 Denys-Drash syndrome (DDS) WT1_HUMAN 373 H Q 2jpa A 57 11.7 1.1 Denys-Drash syndrome (DDS) WT1_HUMAN 373 H Y 2jpa A 57 11.7 1.1 Denys-Drash syndrome (DDS) WT1_HUMAN 377 H R 2jpa A 61 28.3 28.3 Denys-Drash syndrome (DDS) WT1_HUMAN 377 H Y 2jpa A 61 28.3 28.3 Isolated diffuse mesangial sclerosis (IDMS) WT1_HUMAN 342 M R 2jpa A 26 53.2 31.9 Denys-Drash syndrome (DDS) WT1_HUMAN 369 Q P 2jp9 A 53 27.3 2.6 Denys-Drash syndrome (DDS) WT1_HUMAN 366 R C 2jp9 A 50 37.9 0.6 Denys-Drash syndrome (DDS) WT1_HUMAN 366 R H 2jp9 A 50 37.9 0.6 Denys-Drash syndrome (DDS) WT1_HUMAN 366 R L 2jp9 A 50 37.9 0.6 Denys-Drash syndrome (DDS) XPA_HUMAN 108 C F 1d4u A 11 58.5 58.5 Xeroderma pigmentosum complementation group A (XP-A) XPA_HUMAN 185 Q H 1d4u A 88 11 11 Xeroderma pigmentosum complementation group A (XP-A) XPA_HUMAN 130 R K 1d4u A 33 48.8 48.8 Xeroderma pigmentosum complementation group A (XP-A) XRCC1_HUMAN 350 R W 2d8m A 53 37.5 37.5 A colorectal cancer sample XRP2_HUMAN 108 C G 3bh6 B 110 0 0 Retinitis pigmentosa type 2 (RP2) XRP2_HUMAN 67 C Y 3bh7 B 69 0.5 0.5 Retinitis pigmentosa type 2 (RP2) XRP2_HUMAN 86 C Y 3bh7 B 88 0 0 Retinitis pigmentosa type 2 (RP2) XRP2_HUMAN 138 E G 3bh7 B 140 33.6 0.9 Retinitis pigmentosa type 2 (RP2) XRP2_HUMAN 188 L P 2bx6 A 188 26.3 26.3 Retinitis pigmentosa type 2 (RP2) XRP2_HUMAN 253 L R 3bh6 B 255 0 0 Retinitis pigmentosa type 2 (RP2) XRP2_HUMAN 95 P L 2bx6 A 95 0 0 Retinitis pigmentosa type 2 (RP2) XRP2_HUMAN 118 R C 3bh7 B 120 36.1 5.3 Retinitis pigmentosa type 2 (RP2) XRP2_HUMAN 118 R H 3bh7 B 120 36.1 5.3 Retinitis pigmentosa type 2 (RP2) XRP2_HUMAN 118 R L 3bh7 B 120 36.1 5.3 Retinitis pigmentosa type 2 (RP2) ZAP70_HUMAN 448 G E 1u59 A 122 0 0 Neck squamous cell carcinoma sample ZAP70_HUMAN 465 R H 1u59 A 139 33.3 33.3 Selective T-cell defect (STD) ZAP70_HUMAN 518 S R 1u59 A 192 14.7 14.7 Selective T-cell defect (STD) ZIC3_HUMAN 253 C S 2rpc A 16 0 0 X-linked visceral heterotaxy (HTX1) ZIC3_HUMAN 286 H R 2rpc A 49 18 18 X-linked visceral heterotaxy (HTX1) ZIC3_HUMAN 323 T M 2ej4 A 86 5.5 5.5 X-linked visceral heterotaxy (HTX1) ZIC3_HUMAN 255 W G 2ej4 A 18 1.9 1.9 X-linked visceral heterotaxy (HTX1)