Table 1.
Genetic data of rare missense TTN variants. ACMG American College of Medical Genetics and Genomics, ARVC arrhythmogenic right ventricular tachycardia, B benign, BrS Brugada syndrome, ClinVar Clinical Variant, CPVT catecholaminergic polymorphic ventricular tachycardia, dbSNP Single Nucleotide Polymorphism database, DCM dilated cardiomyopathy, EVS Exome Variant Server, GnomAD Genome Aggregation Database, HCM hypertrophic cardiomyopathy, LB likely benign, LQTS long QT syndrome, LP likely pathogenic, LVNC left ventricular non-compacted, NA not available, P pathogenic, SQTS short QT syndrome, VUS variant of uncertain significance.
| Disease | Exon | Nucleotide | Protein | dbSNP/ ClinVar -2015- |
EVS -2015- (EA/AA/All) (%) | dbSNP/ ClinVar -2021- |
GnomAD -2021- Alleles (%) | 2021 Score |
|---|---|---|---|---|---|---|---|---|
| BrS | 17 | c.3100G>A | p.Val1034Met | rs142951505/VUS | 0.1163/0.0/0.0769 | rs142951505/B | 203/250400 (0.081%) | B |
| BrS | 37 | c.8938G>A | p.Ala2980Thr | rs72647885/VUS | 0.0/0.3177/0.1076 | rs72647885 /LB |
93/250936 (0.037%) | B |
| BrS | 77 | c.19712G>A | p.Arg6571Gln | rs372804810 | 0.0122/0.0/0.0084 | rs372804810/VUS | 10/248156 (0.004%) | VUS-LB |
| BrS | 88 | c.22940A>G | p.Asn7647Ser | rs146057575/VUS | 0.0121/0.0/0.0083 | rs146057575/LB | 91/248780 (0.03%) | B |
| BrS | 138 | c.30010G>A | p.Val10004Ile | Novel | NA | rs996345107/VUS | NA | VUS |
| BrS | 222 | c.44643C>A | p.Asn14881Lys | Novel | NA | rs1165942763 | 4/246250 (0.001%) | VUS |
| BrS | 231 | c.47350G>A | p.Val15784Ile | Novel | NA | rs769334194 | 7/248094 (0.002%) | VUS |
| BrS | 244 | c.50303A>T | p.Asn16768Ile | rs371851242 | 0.0121/0.0/0.0083 | rs371851242 | 8/248688 (0.003%) | VUS |
| BrS | 252 | c.53992G>A | p.Val17998Ile | Novel | NA | rs764777213/VUS | 19/247880 (0.007%) | LB |
| BrS | 274 | c.68941G>A | p.Gly22981Ser | rs181166140 | T = 0.0014/2 | rs181166140/B | 91/247998 (0.03%) | B |
| BrS | 274 | c.71630G>A | p.Arg23877His | Novel | NA | rs764254441/LB | 10/248100 (0.004%) | VUS-LB |
| BrS | 274 | c.71887G>A | p.Glu23963Lys | Novel | NA | rs772211147/VUS | 2/248206 (0.0008%) | VUS |
| BrS | 274 | c.74000T>C | p.Leu24667Pro | Novel | NA | Novel | NA | VUS |
| BrS | 274 | c.75148A>T | p.Thr25050Ser | Novel | NA | Novel | NA | VUS |
| BrS | 274 | c.75359G>A | p.Arg25120His | rs185002960 | 0.048/0.076/0.057 | rs185002960/B | 853/248882 (0.3%) | B |
| BrS | 274 | c.78119T>C | p.Leu26040Pro | Novel | NA | Novel | NA | VUS |
| BrS | 277 | c.80297A>G | p.Asp26766Gly | Novel | NA | Novel | NA | VUS |
| BrS | 279 | c.80711T>C | p.Ile26904Thr | Novel | NA | Novel | NA | VUS |
| BrS | 306 | c.98638C>T | p.Arg32880Trp | Novel | NA | rs530453291/LB | 11/247068 (0.004%) | VUS-LB |
| CPVT | 50 | c.12278A>G | p.Asn4093Ser | Novel | NA | rs752924679/ VUS |
15/246972 (0.006%) | LB |
| CPVT | 81 | c.20890G>A | p.Glu6964Lys | rs190192954 | 0.0/0.051/0.016 | rs190192954/ VUS |
11/248320 (0.004%) | LB |
| CPVT | 121 | c.28322C>T | p.Ala9441Val | Novel | NA | rs794729407/ VUS |
NA | VUS |
| CPVT | 172 | c.33199G>A | p.Ala11067Thr | rs191699632 | 0.0/0.110/0.03 | rs191699632/ VUS |
10/156128 (0.006%) | LB |
| CPVT | 287 | c.84973A>G | p.Lys28325Glu | rs370541682 | 0.0/0.025/0.008 | rs370541682/ VUS |
7/248784 (0.002%) | VUS-LB |
| LQT | 23 | c.4090G>A | p.Ala1364Thr | Novel | NA | rs1171035485 | 5/250708 (0.0019%) | VUS |
| LQT | 104 | c.26753C>T | p.Thr8918Met | rs200593368/VUS | 0.12/0.075/0.105 | rs200593368/ LB |
105/249288 (0.042%) | B |
| LQT | 176 | c.34216G>A | p.Val11406Ile | rs373881831/VUS | 0.0121/0.026/0.016 | rs373881831/ VUS |
10/248362 (0.004%) | VUS-LB |
| LQT | 179 | c.34820T>G | p.Phe11607Cys | Novel | NA | rs575813993 | 12/248322 (0.004%) | VUS-LB |
| LQT | 179 | c.34952G>A | p.Ser11651Asn | Novel | NA | rs748928207 | 1/248508 (0.0004%) | VUS |
| LQT | 180 | c.35188G>A | p.Glu11730Lys | Novel | NA | rs778634417/ VUS |
4/248512 (0.001%) | VUS |
| LQT | 230 | c.46697A>G | p.Asn15566Ser | Novel | NA | rs971483896 | NA | VUS |
| LQT | 242 | c.49774G>A | p.Val16592Ile | rs200778464/VUS | 0.0122/0.026/0.016 | rs200778464/ VUS |
23/247908 (0.009%) | B |
| LQT | 249 | c.51698G>A | p.Gly17233Asp | rs202206216 | NA | rs202206216/ LB |
46/248146 (0.01%) | B |
| LQT | 252 | c.53434C>A | p.Leu17812Met | rs201167216 | 0.0/0.262/0.083 | rs201167216/ LB |
67/247466 (0,02%) | B |
| LQT | 252 | c.54868A>G | p.Thr18290Ala | rs200689750/VUS | 0.109/0.078/0.099 | rs200689750/ LB |
101/248280 (0.04%) | B |
| LQT | 253 | c.55552G>A | p.Gly18518Arg | Novel | NA | rs755518802 | 1/247294 (0.0004%) | VUS |
| LQT | 261 | c.57988A>C | p.Lys19330Gln | Novel | NA | rs775738687 | 3/245480 (0.001%) | VUS |
| LQT | 264 | c.58988G>A | p.Arg19663His | rs200971254/VUS | 0.0/0.28/0.0901 | rs200971254/ LB |
85/247816 (0.03%) | B |
| LQT | 265 | c.59276A>G | p.Tyr19759Cys | Novel | NA | rs757701692 | 1/248264 (0.0004%) | VUS |
| LQT | 272 | c.61160G>C | p.Gly20387Ala | rs201381085 | 0.0366/0.0/0.0252 | rs201381085/ LB |
63/243090 (0.02%) | B |
| LQT | 274 | c.62185A>G | p.Arg20729Gly | Novel | NA | rs779474257 | 1/246798 (0.0004%) | VUS |
| LQT | 274 | c.67908A>T | p.Arg22636Ser | Novel | NA | Novel | NA | VUS |
| LQT | 274 | c.78614C>T | p.Thr26205Ile | Novel | NA | Novel | NA | VUS |
| LQT | 306 | c.94583C>A | p.Thr31528Asn | rs375002174 | 0.0121/0.0/0.0082 | rs375002174/ VUS |
13/247980 (0.005%) | LB |
| LQT | 306 | c.95173A>G | p.Lys31725Glu | rs72629783/VUS | 0.0242/0.0/0.0166 | rs72629783/ LB |
54/249004 (0.02%) | B |
| LQT | 310 | c.99813T>G | p.Ser33271Arg | Novel | NA | rs776981475/ VUS |
6/248908 (0.002%) | VUS-LB |
| SQT | 2 | c.208G>A | p.Val70Met | Novel | NA | rs772248060/ VUS |
12/251358 (0.0047%) | LB |
| SQT | 311 | c.100160C>T | p.Thr33387Ile | Novel | NA | rs370267738/ VUS |
NA | VUS |
| ARVC | 2 | c.289G>A | p.Val97Met | rs185921345 | 0.034/0.022/0.030 | rs185921345/ B |
599/251394 (0.23%) | B |
| ARVC | 27 | c.5138G>A | p.Arg1713Lys | Novel | NA | rs890589931 | NA | VUS-LP |
| ARVC | 33 | c.8095T>G | p.Ser2699Ala | rs373857878 | 0.011/0.0/0.007 | rs373857878/ VUS |
2/251202 (0.00079%) | VUS-LP |
| ARVC | 46 | c.10754A>C | p.Gln3585Pro | rs375177753 | 0.024/0.0/0.016 | rs375177753/ VUS |
28/248890 (0.011%) | LB |
| ARVC | 202 | c.40051T>C | p.Tyr13351His | Novel | NA | Novel | NA | VUS-LP |
| ARVC | 210 | c.41606T>A | p.Val13869Asp | Novel | NA | rs767768313/ VUS |
5/247480 (0.002%) | VUS |
| ARVC | 211 | c.41709G>T | p.Trp13903Cys | rs202094100/VUS | 0.0839/0.0/0.057 | rs202094100/ B |
86/247226 (0.03%) | B |
| ARVC | 217 | c.43010G>A | p.Arg14337His | rs191539637 | 0.060/0.0/0.041 | rs191539637/ B |
97/247328 (0.03%) | B |
| ARVC | 224 | c.45148C>T | p.Arg15050Cys | rs201213901/VUS | 0.191/0.0/0.129 | rs201213901/ B |
245/248616 (0.09%) | B |
| ARVC | 257 | c.56694G>T | p.Leu18898Phe | Novel | NA | rs1194410087 | 1/214938 (0.0004%) | VUS-LP |
| ARVC | 257 | c.56950A>G | p.Ile18984Val | rs201247592 | 0.0/0.133/0.041 | rs201247592/ LB |
27/243056 (0.01%) | B |
| ARVC | 274 | c.65321T>C | p.Ile21774Thr | Novel | NA | Novel | NA | VUS-LP |
| ARVC | 274 | c.66898A>G | p.Ile22300Val | rs72646898 | 0.024/0.0/0.016 | rs72646898/ LB |
58/247298 (0.02%) | B |
| ARVC | 274 | c.75560A>G | p.Lys25187Arg | Novel | NA | Novel | NA | VUS-LP |
| ARVC | 278 | c.80386G>A | p.Gly26796Ser | rs183013408/VUS | 0.048/0.0/0.032 | rs183013408/ LB |
99/248324 (0.03%) | B |
| ARVC | 282 | c.81625G>A | p.Glu27209Lys | Novel | NA | Novel | NA | VUS-LP |
| ARVC | 295 | c.88720G>A | p.Val29574Ile | Novel | NA | rs779663332/ VUS |
20/246836 (0.008%) | LB |
| DCM | 15 | c.2629C>A | p.Pro877Thr | Novel | NA | rs751640052/ VUS |
NA | VUS-LP |
| DCM | 28 | c.6587G>A | p.Cys2196Tyr | Novel | NA | rs878854326/ VUS |
1/250806 (0.00039%) | VUS-LP |
| DCM | 38 | c.9247G>A | p.Glu3083Lys | Novel | NA | Novel | NA | VUS-LP |
| DCM | 49 | c.11902G>A | p.Gly3968Arg | rs377754692 | 0.01/0,0/0,01 | rs377754692/ VUS |
7/248948 (0.0028%) | VUS |
| DCM | 55 | c.13484C>T | p.Thr4495Ile | Novel | NA | rs751087281/ VUS |
NA | VUS-LP |
| DCM | 81 | c.20920A>G | p.Ser6974Gly | rs72648980/VUS | 0.0/0.7105/0.2241 | rs72648980/ LB |
155/248460 (0.06%) | B |
| DCM | 113 | c.27659G>A | p.Arg9220Gln | Novel | NA | rs727504757/ VUS |
6/174408 (0.003%) | VUS |
| DCM | 155 | c.31802A>C | p.Lys10601Thr | rs371380876 | 0.0123/0.0/0.0085 | rs371380876/ VUS |
12/248564 (0.004%) | VUS-LB |
| DCM | 206 | c.40614G>A | p.Met13538Ile | Novel | NA | rs762621076 | 2/245318 (0.0008%) | VUS-LP |
| DCM | 225 | c.45392G>A | p.Arg15131His | rs72646808/VUS | 0.3044/0.0533/0.2256 | rs72646808/ B |
457/247686 (0.1%) | B |
| DCM | 228 | c.46444C>G | p.Arg15482Gly | Novel | NA | rs55734111/ VUS |
NA | VUS-LP |
| DCM | 237 | c.48559C>T | p.Arg16187Cys | rs143659933 | 0.0121/0.0/0.0082 | rs143659933 | 11/247830 (0.004%) | VUS-LB |
| DCM | 242 | c.49738A>G | p.Met16580Val | rs188185141 | 0.0603/0.0/0.0411 | rs188185141/ LB |
123/248042 (0.04%) | B |
| DCM | 249 | c.51830G>A | p.Arg17277His | rs201457934 | 0.0122/0.0/0.0083 | rs201457934/ LB |
26/248278 (0.01%) | B |
| DCM | 261 | c.57893G>A | p.Ser19298Asn | Novel | NA | Novel | NA | VUS-LP |
| DCM | 261 | c.57968C>T | p.Pro19323Leu | Novel | NA | rs397517662/ VUS |
12/246570 (0.004%) | VUS-LB |
| DCM | 264 | c.58943G>A | p.Arg19648His | Novel | NA | Novel rs753717922 | 7/247984 (0.002%) | VUS |
| DCM | 274 | c.62042T>G | p.Val20681Gly | Novel | NA | Novel | NA | VUS-LP |
| DCM | 274 | c.65012T>A | p.Met21671Lys | Novel | NA | rs750298083/ VUS |
8/175928 (0.004%) | VUS |
| DCM | 274 | c.73195G>A | p.Val24399Ile | Novel | NA | rs1257567608 | NA | VUS-LP |
| DCM | 274 | c.73501C>G | p.Pro24501Ala | Novel | NA | rs770542451 | 1/246988 (0.0004%) | VUS-LP |
| DCM | 274 | c.73967A>G | p.Asn24656Ser | rs368443217/VUS | 0.0122/0.0/0.0084 | rs368443217/ VUS |
20/243932 (0.008%) | B |
| DCM | 274 | c.74942C>T | p.Ala24981Val | Novel | NA | rs749950083 | NA | VUS-LP |
| DCM | 274 | c.78758G>C | p.Gly26253Ala | Novel | NA | Novel | NA | VUS-LP |
| DCM | 277 | c.80081T>C | p.Val26694Ala | Novel | NA | rs1053653300/VUS | 2/248614 (0.0008%) | VUS-LP |
| DCM | 283 | c.81985C>T | p.Leu27329Phe | rs180798672 | A=0.0005/1 | rs180798672/ VUS |
5/248826 (0.002%) | VUS |
| DCM | 291 | c.87711C>A | p.Phe29237Leu | Novel | NA | rs587780983/ VUS |
10/248118 (0.004%) | VUS-LB |
| DCM | 306 | c.95905C>T | p.Arg31969Trp | Novel | NA | rs753957126 | 14/249090 (0.005%) | VUS-LB |
| DCM | 306 | c.96068G>A | p.Arg32023Gln | Novel | NA | rs778021095/ VUS |
3/248866 (0.001%) | VUS-LP |
| DCM | 306 | c.98408A>G | p.Asn32803Ser | Novel | NA | rs1200663369 | 1/248986 (0.0004%) | VUS-LP |
| HCM | 5 | c.758C>T | p.Thr253Ile | Novel | NA | rs945095401 | NA | VUS-LP |
| HCM | 15 | c.2611G>T | p.Val871Leu | rs72647861 | NA | rs72647861/ VUS |
18/251176 (0.0071%) | LB |
| HCM | 19 | c.3241G>A | p.Ala1081Thr | rs55914517/VUS | 0.1047/0.0454/0.0846 | rs55914517/ LB |
168/251122 (0.069%) | B |
| HCM | 21 | c.3716A>G | p.Tyr1239Cys | Novel | NA | rs794729569 | 2/250772 (0.0007%) | VUS-LP |
| HCM | 24 | c.4396T>C | p.Phe1466Leu | rs151310601 | 0.1279/0.0681/0.1076 | rs151310601/ LB |
173/250944 (0.068%) | B |
| HCM | 27 | c.5740G>A | p.Ala1914Thr | rs118161093 | T=0.0009/2 | rs118161093/ LB |
35/251134 (0.013%) | B |
| HCM | 37 | c.8920A>G | p.Met2974Val | Novel | NA | rs993689796 | NA | VUS-LP |
| HCM | 43 | c.10162C>T | p.Arg3388Trp | Novel | NA | rs758680640/ LB |
5/250482 (0.0019%) | VUS |
| HCM | 49 | c.12014A>G | p.Gln4005Arg | Novel | NA | Novel | NA | VUS-LP |
| HCM | 51 | c.12581A>G | p.Gln4194Arg | rs190636272/VUS | 0.0964/0.0254/0.0736 | rs190636272/ LB |
147/247774 (0.059%) | B |
| HCM | 52 | c.12814G>T | p.Ala4272Ser | rs72648940/VUS | 0.1339/0.0/0.092 | rs72648940/ LB |
132/248410 (0.053%) | B |
| HCM | 53 | c.13075C>G | p.Leu4359Val | Novel | NA | Novel | NA | VUS-LP |
| HCM | 62 | c.15418C>A | p.Pro5140Thr | rs72648953/VUS | 0.2188/0.0267/0.1586 | rs72648953/ B |
738/242524 (0.3%) | B |
| HCM | 66 | c.16609G>A | p.Glu5537Lys | rs72648958/VUS | 0.1461/0.0/0.1003 | rs72648958/ LB |
248/245308 (0.1%) | B |
| HCM | 77 | c.19723G>C | p.Glu6575Gln | rs201420077 | 0.1097/0.0/0.0755 | rs201420077/ LB |
45/248270 (0.018%) | B |
| HCM | 78 | c.19943T>G | p.Ile6648Arg | rs201181445 | 0.0122/0.0/0.0084 | rs201181445 | 4/244710 (0.001%) | VUS-LP |
| HCM | 78 | c.20030A>G | p.Lys6677Arg | Novel | NA | Novel | NA | VUS-LP |
| HCM | 80 | c.20375C>T | p.Ser6792Leu | rs200598509/VUS | 0.0242/0.0/0.0165 | rs200598509/ VUS |
18/248776 (0.0072%) | LB |
| HCM | 81 | c.20887G>A | p.Asp6963Asn | Novel | NA | rs756813056/ VUS |
8/248344 (0.003%) | VUS-LB |
| HCM | 82 | c.21220G>A | p.Val7074Ile | rs200103997 | 0.0847/0.0256/0.0658 | rs200103997/ LB |
146/248762 (0.058%) | B |
| HCM | 88 | c.22762A>G | p.Ile7588Val | rs72648989 | 0.0981/0.0/0.0678 | rs72648989/ LB |
190/245890 (0.07%) | B |
| HCM | 89 | c.23203A>C | p.Asn7735His | rs376982715/VUS | 0.012/0.0/0.0082 | rs376982715/ LB |
34/248706 (0.013%) | B |
| HCM | 96 | c.25117G>A | p.Glu8373Lys | rs144025230 | T=0.0009/2 | rs144025230/ VUS |
10/249144 (0.004%) | LB |
| HCM | 98 | c.25582G>A | p.Val8528Met | Novel | NA | rs563073635/ LB |
14/249214 (0.0056%) | LB |
| HCM | 114 | c.27707A>C | p.His9236Pro | Novel | NA | Novel | NA | VUS-LP |
| HCM | 119 | c.28179A>C | p.Glu9393Asp | Novel | NA | Novel | NA | VUS-LP |
| HCM | 127 | c.28888G>A | p.Glu9630Lys | Novel | NA | Novel | NA | VUS-LP |
| HCM | 138 | c.29974C>T | p.Leu9992Phe | Novel | NA | rs967680270 | NA | VUS-LP |
| HCM | 138 | c.30040G>A | p.Glu10014Lys | Novel | NA | rs778130826 | 1/240058 (0.0004%) | VUS-LP |
| HCM | 152 | c.31502C>T | p.Pro10501Leu | Novel | NA | Novel | NA | VUS-LP |
| HCM | 153 | c.46630G>C | p.Ala15544Pro | Novel | NA | Novel | NA | VUS-LP |
| HCM | 184 | c.35996G>C | p.Arg11999Thr | Novel | NA | rs555652524 | 3/240444 (0.001%) | VUS-LP |
| HCM | 197 | c.38683G>A | p.Gly12895Arg | rs200042932/VUS | 0.0365/0.0271/0.0336 | rs200042932/ LB |
72/246698 (0.02%) | B |
| HCM | 204 | c.40364C>T | p.Ser13455Phe | Novel | NA | rs949595987 | NA | VUS-LP |
| HCM | 210 | c.41471C>A | p.Ala13824Glu | Novel | NA | rs750310775/ VUS |
1/247347 (0.0004%) | VUS-LP |
| HCM | 227 | c.45932T>C | p.Ile15311Thr | Novel | NA | rs760585965 | 4/246104 (0.001%) | VUS-LP |
| HCM | 230 | c.46801C>A | p.Pro15601Thr | Novel | NA | Novel | NA | VUS-LP |
| HCM | 230 | c.47036T>C | p.Met15679Thr | rs200585270 | NA | rs200585270/ LB |
80/248418 (0.03%) | B |
| HCM | 234 | c.47651C>G | p.Ser15884Cys | Novel | NA | rs567515550 | 3/244826 (0.001%) | VUS-LP |
| HCM | 240 | c.49369G>A | p.Val16457Ile | rs181957743 | T=0.0009/2 | rs181957743/ LB |
45/244382 (0.01%) | B |
| HCM | 245 | c.50516C>G | p.Thr16839Ser | Novel | NA | Novel | NA | VUS-LP |
| HCM | 245 | c.50693G>C | p.Gly16898Ala | rs201922910 | 0.0361/0.0/0.0245 | rs201922910/ LB |
38/248508 (0.01%) | B |
| HCM | 249 | c.51661G>A | p.Asp17221Asn | Novel | NA | rs1352997069/VUS | 9/247586 (0.003%) | VUS-LB |
| HCM | 250 | c.51953T>G | p.Val17318Gly | Novel | NA | rs755949982/ VUS |
13/243972 (0.005%) | LB |
| HCM | 251 | c.52301A>G | p.Asp17434Gly | rs199512049/VUS | 0.1099/0.0/0.0756 | rs199512049/ LB |
149/248058 (0.06%) | B |
| HCM | 252 | c.52562T>C | p.Val17521Ala | Novel | NA | rs886039085/ VUS |
4/227726 (0.001%) | VUS-LP |
| HCM | 252 | c.53272G>A | p.Ala17758Thr | rs370995867 | 0.0121/0.0/0.0083 | rs370995867/ LB |
30/246926 (0.01%) | B |
| HCM | 252 | c.55343G>C | p.Ser18448Thr | Novel | NA | rs1169239147/VUS | NA | VUS-LP |
| HCM | 254 | c.55885A>G | p.Ile18629Val | rs72646855/VUS | 0.0726/0.0258/0.0577 | rs72646855/ LB |
144/247742 (0.05%) | B |
| HCM | 262 | c.58382G>A | p.Arg19461His | rs72646868/VUS | 0.0122/0.0/0.0083 | rs72646868/ VUS |
13/247276 (0.005%) | LB |
| HCM | 263 | c.58522T>A | p.Trp19508Arg | Novel | NA | Novel | NA | VUS-LP |
| HCM | 264 | c.58946T>G | p.Phe19649Cys | Novel | NA | rs764330098/ VUS |
2/248030 (0.0008%) | VUS-LP |
| HCM | 267 | c.59659G>A | p.Val19887Ile | Novel | NA | rs759848349 | 4/246976 (0.001%) | VUS-LP |
| HCM | 267 | c.59894C>T | p.Thr19965Ile | Novel | NA | Novel | NA | VUS-LP |
| HCM | 268 | c.60393G>C | p.Gln20131His | Novel | NA | rs727504520/ VUS |
13/248510 (0.005%) | LB |
| HCM | 269 | c.60596C>T | p.Pro20199Leu | Novel | NA | rs775953148/ VUS |
7/246890 (0.002%) | VUS-LB |
| HCM | 274 | c.62924A>T | p.Asp20975Val | Novel | NA | Novel | NA | VUS-LP |
| HCM | 274 | c.63604G>A | p.Asp21202Asn | Novel | NA | rs747260758 | 14/246618 (0.005%) | LB |
| HCM | 274 | c.63644G>A | p.Arg21215His | rs145504744 | T=0.0009/2 | rs145504744/ VUS |
11/246464 (0.004%) | VUS |
| HCM | 274 | c.64831G>A | p.Val21611Ile | Novel | NA | rs1400549364 | 1/168286 (0.0005%) | VUS-LP |
| HCM | 274 | c.68123C>A | p.Thr22708Asn | Novel | NA | Novel | NA | VUS-LP |
| HCM | 274 | c.69946G>A | p.Glu23316Lys | Novel | NA | rs747699837 | 4/248188 (0.001%) | VUS-LP |
| HCM | 274 | c.70579C>G | p.Pro23527Ala | Novel | NA | rs912485960 | 1/248792 (0.0004%) | VUS-LP |
| HCM | 274 | c.70972G>C | p.Glu23658Gln | Novel | NA | rs754878387/ LB |
18/248186 (0.007%) | LB |
| HCM | 274 | c.71161C>T | p.Pro23721Ser | Novel | NA | rs1030641242 | NA | VUS-LP |
| HCM | 274 | c.72422T>C | p.Ile24141Thr | Novel | NA | rs757763969 | 1/248214 (0.0004%) | VUS-LP |
| HCM | 274 | c.72559T>C | p.Phe24187Leu | rs200181804/VUS | 0.0243/0.0/0.0166 | rs200181804/ LB |
36/248728 (0.01%) | B |
| HCM | 274 | c.72722G>A | p.Gly24241Asp | Novel | NA | rs532522359 | 7/248186 (0.002%) | VUS-LB |
| HCM | 274 | c.72997A>G | p.Ile24333Val | rs201562505 | 0.1/0/0.09 | rs201562505/ B |
403/248414 (0.1%) | B |
| HCM | 274 | c.73675A>C | p.Ile24559Leu | Novel | NA | rs1325322358 | 1/245806 (0.0004%) | VUS-LP |
| HCM | 274 | c.74571G>C | p.Gln24857His | Novel | NA | Novel | NA | VUS-LP |
| HCM | 274 | c.75283T>G | p.Ser25095Ala | Novel | NA | Novel | NA | VUS-LP |
| HCM | 274 | c.75465G>T | p.Glu25155Asp | Novel | NA | Novel | NA | VUS-LP |
| HCM | 274 | c.76732G>A | p.Val25578Ile | rs371366196 | 0.0243/0.0/0.0166 | rs371366196/ VUS |
10/245028 (0.004%) | LB |
| HCM | 274 | c.77758G>A | p.Val25920Ile | rs377264123 | 0.012/0.0/0.0082 | rs377264123/ LB |
17/248104 (0.006%) | LB |
| HCM | 282 | c.81646G>T | p.Val27216Phe | Novel | NA | Novel | NA | VUS-LP |
| HCM | 286 | c.84247C>T | p.Pro28083Ser | Novel | NA | rs927540266 | NA | VUS-LP |
| HCM | 287 | c.85076T>A | p.Ile28359Lys | Novel | NA | rs531432790/ LB |
157/248510 (0.06%) | B |
| HCM | 287 | c.85081G>A | p.Ala28361Thr | Novel | NA | rs1192451781/VUS | 1/248372 (0.0004%) | VUS-LP |
| HCM | 287 | c.85301G>T | p.Ser28434Ile | rs180975448 | 0.0846/0.0/0.0575 | rs180975448/ LB |
159/248444 (0.06%) | B |
| HCM | 287 | c.85877A>G | p.Tyr28626Cys | Novel | NA | rs543223589/ VUS |
12/248882 (0.004%) | LB |
| HCM | 288 | c.86578C>T | p.Arg28860Cys | Novel | NA | rs190282707/ VUS |
6/248622 (0.002%) | VUS-LB |
| HCM | 291 | c.87632T>C | p.Ile29211Thr | Novel | NA | rs1460359915/VUS | 1/248674 (0.0004%) | VUS-LP |
| HCM | 292 | c.87995T>A | p.Phe29332Tyr | Novel | NA | Novel | NA | VUS-LP |
| HCM | 295 | c.89159C>G | p.Pro29720Arg | Novel | NA | Novel | NA | VUS-LP |
| HCM | 296 | c.89236A>G | p.Lys29746Glu | Novel | NA | Novel | NA | VUS-LP |
| HCM | 296 | c.89395C>T | p.Arg29799Cys | rs202064385/VUS | 0.0243/0.0/0.0166 | rs202064385/ LB |
110/248626 (0.04%) | B |
| HCM | 299 | c.90118A>G | p.Arg30040Gly | Novel | NA | Novel | NA | VUS-LP |
| HCM | 303 | c.91623T>A | p.Asp30541Glu | Novel | NA | Novel | NA | VUS-LP |
| HCM | 304 | c.92444T>C | p.Val30815Ala | Novel | NA | rs1237202129 | NA | VUS-LP |
| HCM | 306 | c.93637A>G | p.Ile31213Val | Novel | NA | rs1029128193 | NA | VUS-LP |
| HCM | 306 | c.93829T>C | p.Tyr31277His | Novel | NA | rs1227515280/VUS | 1/248712 (0.0004%) | VUS-LP |
| HCM | 306 | c.94693A>C | p.Ile31565Leu | Novel | NA | rs1328046092 | 1/249066 (0.0004%) | VUS-LP |
| HCM | 306 | c.95708G>A | p.Arg31903Gln | rs149391616 | T = 0.0028/5 | rs149391616/ LB |
80/248208 (0.03%) | B |
| HCM | 306 | c.96710G>A | p.Arg32237Gln | rs115150240/VUS | 0.0121/0.0/0.0083 | rs115150240/ LB |
33/247298 (0.013%) | B |
| HCM | 308 | c.99357G>C | p.Lys33119Asn | Novel | NA | rs113190638 | 1/247918 (0.0004%) | VUS-LP |
| LVNC | 62 | c.15430G>A | p.Val5144Ile | Novel | NA | rs550617268/ LB |
12/246042 (0.0048%) | VUS-LB |
| LVNC | 274 | c.64442T>C | p.Leu21481Pro | rs56399205 | 0.0975/0.0266/0.0752 | rs56399205/ B |
140/248224 (0.05%) | B |