Table 1. List of 162 genes both mutated in the patient and his father by whole exome sequencing.
| Chromosome | Position | Gene | SNP | Chromosome | Position | Gene | SNP | ||
|---|---|---|---|---|---|---|---|---|---|
| chr1 | 93646190 | TMED5 | rs185712821 | C/T | chr10 | 75563726 | NDST2 | NA | C/T |
| chr1 | 45271238 | PLK3 | rs55654497 | G/A | chr11 | 5537592 | UBQLNL | rs142657773 | G/C |
| chr1 | 162569107 | UAP1 | rs190156359 | T/A | chr11 | 74915493 | SLCO2B1 | rs192050675 | C/A |
| chr1 | 214537946 | PTPN14 | rs200340171 | G/A | chr11 | 78369215 | TENM4 | rs185503085 | C/T |
| chr1 | 109260438 | FNDC7 | NA | T/C | chr11 | 123988461 | VWA5A | rs202202178 | A/T |
| chr1 | 158533225 | OR6P1 | NA | C/T | chr11 | 124266877 | OR8B3 | rs183842912 | A/C |
| chr1 | 16907303 | NBPF1 | rs681623 | C/T | chr11 | 10585620 | LYVE1 | NA | G/T |
| chr1 | 17083872 | MST1L | rs11545933 | G/A | chr11 | 118376389 | KMT2A | NA | C/T |
| chr1 | 17263277 | CROCC | rs200228265 | G/A | chr11 | 130060375 | ST14 | NA | C/T |
| chr1 | 181019227 | MR1 | NA | G/A | chr11 | 3726498 | NUP98 | NA | G/A |
| chr1 | 232561368 | SIPA1L2 | NA | C/A | chr11 | 6661388 | DCHS1 | rs147698268 | G/A |
| chr1 | 23637401 | HNRNPR | NA | C/T | chr11 | 71249529 | KRTAP5-8 | rs200162819 | G/A |
| chr1 | 248813827 | OR2T27 | rs1782241 | T/C | chr12 | 6669359 | NOP2 | rs142370738 | G/C |
| chr1 | 33237103 | KIAA1522 | NA | C/T | chr12 | 7475081 | ACSM4 | rs7485773 | C/T |
| chr1 | 57411713 | C8B | NA | G/C | chr12 | 105464439 | ALDH1L2 | rs199841702 | G/C |
| chr1 | 86355260 | COL24A1 | NA | C/G | chr12 | 109217071 | SSH1 | rs140582047 | T/A |
| chr1 | 9780232 | PIK3CD | NA | G/A | chr12 | 110221524 | TRPV4 | rs55728855 | C/T |
| chr2 | 90249249 | IGKV1D-43 | NA | T/C | chr12 | 112150408 | ACAD10 | rs145407775 | C/T |
| chr2 | 113343610 | CHCHD5 | rs199612227 | A/G | chr12 | 124097777 | DDX55 | rs117200049 | G/A |
| chr2 | 209108226 | IDH1 | rs186787509 | T/C | chr12 | 108956430 | ISCU | NA | G/C |
| chr2 | 233735070 | C2orf82 | rs200597442 | C/G | chr12 | 11183661 | TAS2R31 | NA | C/A |
| chr2 | 152484095 | NEB | NA | C/G | chr12 | 12966365 | DDX47 | NA | G/A |
| chr2 | 179466289 | TTN | NA | C/T | chr12 | 48104624 | ENDOU | NA | C/T |
| chr2 | 187627500 | FAM171B | NA | A/G | chr12 | 52885339 | KRT6A | rs199613662 | C/T |
| chr2 | 233675986 | GIGYF2 | NA | A/G | chr12 | 6950473 | GNB3 | NA | C/T |
| chr2 | 73315216 | RAB11FIP5 | NA | A/T | chr13 | 103419820 | TEX30 | rs200314758 | T/C |
| chr2 | 97877478 | ANKRD36 | rs10194525 | G/A | chr13 | 96242562 | DZIP1 | NA | T/G |
| chr3 | 7728055 | GRM7 | rs182447901 | C/T | chr14 | 45432003 | FAM179B | rs200775208 | C/T |
| chr3 | 33644578 | CLASP2 | rs117166070 | C/T | chr14 | 68241828 | ZFYVE26 | rs193244014 | G/C |
| chr3 | 49751251 | RNF123 | rs117758999 | G/A | chr14 | 105415264 | AHNAK2 | rs201041268 | G/A |
| chr3 | 112648174 | CD200R1 | rs188572017 | A/T | chr14 | 32256995 | NUBPL | NA | G/A |
| chr3 | 151107788 | MED12L | rs199780529 | T/C | chr14 | 70925106 | ADAM21 | NA | T/C |
| chr3 | 124351317 | KALRN | NA | G/A | chr15 | 45456025 | DUOX1 | rs186783799 | G/A |
| chr3 | 132319977 | CCRL1 | NA | G/A | chr15 | 89402346 | ACAN | rs188663484 | T/C |
| chr3 | 40442466 | ENTPD3 | rs140869368 | G/A | chr16 | 21994499 | UQCRC2 | NA | T/A |
| chr4 | 42119545 | BEND4 | rs187366202 | G/T | chr16 | 15761154 | NDE1 | rs147283674 | C/T |
| chr4 | 47788868 | CORIN | rs186748019 | C/A | chr16 | 55530864 | MMP2 | rs28730814 | G/A |
| chr4 | 52948557 | SPATA18 | rs184617860 | C/T | chr16 | 18849442 | SMG1 | NA | G/A |
| chr4 | 186291928 | LRP2BP | NA | C/T | chr16 | 2287576 | DNASE1L2 | NA | C/T |
| chr4 | 4190576 | OTOP1 | rs2215642 | C/G | chr16 | 28846489 | ATXN2L | NA | T/C |
| chr5 | 38451559 | EGFLAM | rs140968262 | A/G | chr16 | 30100451 | TBX6 | rs202193096 | G/A |
| chr5 | 94814011 | TTC37 | rs143227096 | C/A | chr16 | 456349 | DECR2 | NA | C/T |
| chr5 | 137722246 | KDM3B | rs184734460 | C/G | chr16 | 46637519 | SHCBP1 | NA | A/G |
| chr5 | 178507048 | ZNF354C | rs116562180 | C/G | chr16 | 67991689 | SLC12A4 | NA | G/A |
| chr5 | 128442753 | ISOC1 | NA | G/T | chr16 | 71163611 | HYDIN | NA | T/G |
| chr5 | 149357850 | SLC26A2 | NA | G/T | chr16 | 71961625 | IST1 | NA | C/G |
| chr5 | 171341357 | FBXW11 | NA | G/T | chr16 | 84213027 | TAF1C | NA | C/G |
| chr6 | 26056145 | HIST1H1C | rs79483116 | G/A | chr17 | 76166705 | SYNGR2 | NA | G/A |
| chr6 | 27277365 | POM121L2 | rs61736085 | G/A | chr17 | 36719794 | SRCIN1 | rs118094989 | C/A |
| chr6 | 39847207 | DAAM2 | rs139876341 | A/G | chr17 | 40714796 | COASY | rs200009135 | G/C |
| chr6 | 43017728 | CUL7 | rs146808129 | C/A | chr17 | 48916935 | WFIKKN2 | rs35300894 | G/A |
| chr6 | 83838955 | DOPEY1 | rs188246058 | A/C | chr17 | 55918596 | MRPS23 | rs117734846 | C/T |
| chr6 | 160485490 | IGF2R | rs8191859 | G/A | chr17 | 73096776 | SLC16A5 | rs116126425 | G/A |
| chr6 | 119628121 | MAN1A1 | NA | C/T | chr17 | 11461158 | SHISA6 | NA | A/G |
| chr6 | 143825320 | FUCA2 | NA | A/G | chr17 | 12920199 | ELAC2 | rs140665334 | G/A |
| chr6 | 34512160 | SPDEF | rs375427681 | G/A | chr17 | 14139300 | CDRT15 | rs11867613 | A/G |
| chr6 | 34802049 | UHRF1BP1 | rs368713702 | A/G | chr17 | 14204942 | HS3ST3B1 | NA | T/C |
| chr6 | 39893446 | MOCS1 | rs377167949 | G/A | chr17 | 26823582 | SLC13A2 | NA | G/A |
| chr7 | 75617513 | TMEM120A | rs372363121 | C/T | chr17 | 2966032 | OR1D5 | rs2676564 | C/G |
| chr7 | 141464509 | TAS2R3 | NA | T/C | chr17 | 5036211 | USP6 | rs201674756 | C/T |
| chr7 | 144096938 | NOBOX | NA | G/A | chr17 | 74869016 | MGAT5B | NA | G/A |
| chr7 | 148801869 | ZNF425 | NA | C/G | chr18 | 72913819 | ZADH2 | rs191356988 | A/G |
| chr7 | 2689594 | TTYH3 | NA | G/T | chr18 | 44584631 | KATNAL2 | NA | C/T |
| chr7 | 2962827 | CARD11 | rs3735133 | G/A | chr19 | 50028070 | FCGRT | rs374439544 | C/T |
| chr8 | 8748876 | MFHAS1 | rs201875377 | C/A | chr19 | 54743747 | LILRA6 | rs10403230 | C/G |
| chr8 | 17928855 | ASAH1 | rs11538152 | G/A | chr19 | 4504673 | PLIN4 | rs201143997 | G/A |
| chr8 | 21766971 | DOK2 | rs202013016 | G/A | chr19 | 15730502 | CYP4F8 | rs61746468 | C/T |
| chr8 | 42711517 | RNF170 | rs147488061 | T/C | chr19 | 15839677 | OR10H2 | NA | T/C |
| chr8 | 107691450 | OXR1 | rs200863692 | A/G | chr19 | 18119274 | ARRDC2 | NA | G/A |
| chr8 | 146067346 | ZNF7 | NA | A/G | chr19 | 22846981 | ZNF492 | NA | A/C |
| chr8 | 52733228 | PCMTD1 | rs73592211 | G/A | chr19 | 40743901 | AKT2 | NA | C/T |
| chr8 | 70541824 | SULF1 | NA | C/T | chr19 | 43420636 | PSG6 | rs370759098 | G/A |
| chr9 | 2719083 | KCNV2 | rs143382624 | G/C | chr19 | 58370766 | ZNF587 | rs77577775 | G/A |
| chr9 | 18776971 | ADAMTSL1 | rs117558542 | G/A | chr20 | 31685424 | BPIFB4 | NA | T/C |
| chr9 | 19345978 | DENND4C | rs145052586 | G/A | chr21 | 33690064 | URB1 | rs145519835 | C/T |
| chr9 | 84226764 | TLE1 | rs141959893 | C/T | chr21 | 37584306 | DOPEY2 | rs117132686 | C/A |
| chr9 | 139750000 | MAMDC4 | rs200545888 | T/C | chr21 | 19666690 | TMPRSS15 | NA | C/T |
| chr9 | 131670227 | LRRC8A | NA | C/T | chr22 | 22673302 | IGLV5-52 | NA | C/T |
| chr10 | 25314128 | THNSL1 | rs78131600 | C/T | chr22 | 20127408 | ZDHHC8 | rs200408305 | A/G |
| chr10 | 63810739 | ARID5B | rs201704836 | G/A | chr22 | 46725974 | GTSE1 | rs188655025 | C/G |
| chr10 | 128192832 | C10orf90 | NA | C/T | chrX | 2833605 | ARSD | rs111939179 | C/T |
SNP, single nucleotide polymorphism; NA, not available.