Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.201363376_201363379delinsTCTC | CA1219711162 | TNNT2 | c.502_505delinsGAGA (p.Glu168=) c.487_490delinsGAGA (p.Glu163=) c.484_487delinsGAGA (p.Glu162=) c.517_520delinsGAGA (p.Glu173=) c.469_472delinsGAGA (p.Glu157=) n.981_984delinsGAGA c.163-1380_163-1377delinsGAGA (n.163-1380_163-1377delinsGAGA) c.*417_*420delinsGAGA (n.*417_*420delinsGAGA) c.397_400delinsGAGA (p.Glu133=) c.493_496delinsGAGA (p.Glu165=) c.472_475delinsGAGA (p.Glu158=) c.310_313delinsGAGA (p.Glu104=) n.810_813delinsGAGA n.743_746delinsGAGA n.1726_1729delinsGAGA n.413_416delinsGAGA c.514_517delinsGAGA (p.Glu172=) | |
1 | g.201363377C>A | CA344204536 | TNNT2 | c.504G>T (p.Glu168Asp) c.489G>T (p.Glu163Asp) c.486G>T (p.Glu162Asp) c.519G>T (p.Glu173Asp) c.471G>T (p.Glu157Asp) n.983G>T c.163-1378G>T (n.163-1378G>T) c.*419G>T (n.*419G>T) c.399G>T (p.Glu133Asp) c.495G>T (p.Glu165Asp) c.474G>T (p.Glu158Asp) c.312G>T (p.Glu104Asp) n.812G>T n.745G>T n.1728G>T n.415G>T c.516G>T (p.Glu172Asp) | |
1 | g.201363377C= | CA1219711164 | TNNT2 | c.504G= (p.Glu168=) c.489G= (p.Glu163=) c.486G= (p.Glu162=) c.519G= (p.Glu173=) c.471G= (p.Glu157=) n.983G= c.163-1378G= (n.163-1378G=) c.*419G= (n.*419G=) c.399G= (p.Glu133=) c.495G= (p.Glu165=) c.474G= (p.Glu158=) c.312G= (p.Glu104=) n.812G= n.745G= n.1728G= n.415G= c.516G= (p.Glu172=) | |
1 | g.201363377C>G | CA344204533 | TNNT2 | c.504G>C (p.Glu168Asp) c.489G>C (p.Glu163Asp) c.486G>C (p.Glu162Asp) c.519G>C (p.Glu173Asp) c.471G>C (p.Glu157Asp) n.983G>C c.163-1378G>C (n.163-1378G>C) c.*419G>C (n.*419G>C) c.399G>C (p.Glu133Asp) c.495G>C (p.Glu165Asp) c.474G>C (p.Glu158Asp) c.312G>C (p.Glu104Asp) n.812G>C n.745G>C n.1728G>C n.415G>C c.516G>C (p.Glu172Asp) | gnomAD v4 |
1 | g.201363377C>T | CA35420261 | TNNT2 | c.504G>A (p.Glu168=) c.489G>A (p.Glu163=) c.486G>A (p.Glu162=) c.519G>A (p.Glu173=) c.471G>A (p.Glu157=) n.983G>A c.163-1378G>A (n.163-1378G>A) c.*419G>A (n.*419G>A) c.399G>A (p.Glu133=) c.495G>A (p.Glu165=) c.474G>A (p.Glu158=) c.312G>A (p.Glu104=) n.812G>A n.745G>A n.1728G>A n.415G>A c.516G>A (p.Glu172=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.201363377_201363388delinsCTCCTCCTCCTC | CA1144229077 | TNNT2 | c.493_504delinsGAGGAGGAGGAG (p.Glu165=) c.478_489delinsGAGGAGGAGGAG (p.Glu160=) c.475_486delinsGAGGAGGAGGAG (p.Glu159=) c.508_519delinsGAGGAGGAGGAG (p.Glu170=) c.460_471delinsGAGGAGGAGGAG (p.Glu154=) n.972_983delinsGAGGAGGAGGAG c.163-1389_163-1378delinsGAGGAGGAGGAG (n.163-1389_163-1378delinsGAGGAGGAGGAG) c.*408_*419delinsGAGGAGGAGGAG (n.*408_*419delinsGAGGAGGAGGAG) c.388_399delinsGAGGAGGAGGAG (p.Glu130=) c.484_495delinsGAGGAGGAGGAG (p.Glu162=) c.463_474delinsGAGGAGGAGGAG (p.Glu155=) c.301_312delinsGAGGAGGAGGAG (p.Glu101=) n.801_812delinsGAGGAGGAGGAG n.734_745delinsGAGGAGGAGGAG n.1717_1728delinsGAGGAGGAGGAG n.404_415delinsGAGGAGGAGGAG c.505_516delinsGAGGAGGAGGAG (p.Glu169=) | |
1 | g.201363386_201363388dup | CA1219711165 | TNNT2 | c.502_504dup (p.Glu168_Asn169insGlu) c.487_489dup (p.Glu163_Asn164insGlu) c.484_486dup (p.Glu162_Asn163insGlu) c.517_519dup (p.Glu173_Asn174insGlu) c.469_471dup (p.Glu157_Asn158insGlu) n.981_983dup c.163-1380_163-1378dup (n.163-1380_163-1378dup) c.*417_*419dup (n.*417_*419dup) c.397_399dup (p.Glu133_Asn134insGlu) c.493_495dup (p.Glu165_Asn166insGlu) c.472_474dup (p.Glu158_Asn159insGlu) c.310_312dup (p.Glu104_Asn105insGlu) n.810_812dup n.743_745dup n.1726_1728dup n.413_415dup c.514_516dup (p.Glu172_Asn173insGlu) | dbSNP |
1 | g.201363386_201363388del | CA004651 | TNNT2 | c.502_504del (p.Glu168del) c.487_489del (p.Glu163del) c.484_486del (p.Glu162del) c.517_519del (p.Glu173del) c.469_471del (p.Glu157del) n.981_983del c.163-1380_163-1378del (n.163-1380_163-1378del) c.*417_*419del (n.*417_*419del) c.397_399del (p.Glu133del) c.493_495del (p.Glu165del) c.472_474del (p.Glu158del) c.310_312del (p.Glu104del) n.810_812del n.743_745del n.1726_1728del n.413_415del c.514_516del (p.Glu172del) | dbSNP gnomAD v4 |
1 | g.201363378T>A | CA344204538 | TNNT2 | c.503A>T (p.Glu168Val) c.488A>T (p.Glu163Val) c.485A>T (p.Glu162Val) c.518A>T (p.Glu173Val) c.470A>T (p.Glu157Val) n.982A>T c.163-1379A>T (n.163-1379A>T) c.*418A>T (n.*418A>T) c.398A>T (p.Glu133Val) c.494A>T (p.Glu165Val) c.473A>T (p.Glu158Val) c.311A>T (p.Glu104Val) n.811A>T n.744A>T n.1727A>T n.414A>T c.515A>T (p.Glu172Val) | |
1 | g.201363378T>C | CA089030 | TNNT2 | c.503A>G (p.Glu168Gly) c.488A>G (p.Glu163Gly) c.485A>G (p.Glu162Gly) c.518A>G (p.Glu173Gly) c.470A>G (p.Glu157Gly) n.982A>G c.163-1379A>G (n.163-1379A>G) c.*418A>G (n.*418A>G) c.398A>G (p.Glu133Gly) c.494A>G (p.Glu165Gly) c.473A>G (p.Glu158Gly) c.311A>G (p.Glu104Gly) n.811A>G n.744A>G n.1727A>G n.414A>G c.515A>G (p.Glu172Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.201363378T>G | CA344204542 | TNNT2 | c.503A>C (p.Glu168Ala) c.488A>C (p.Glu163Ala) c.485A>C (p.Glu162Ala) c.518A>C (p.Glu173Ala) c.470A>C (p.Glu157Ala) n.982A>C c.163-1379A>C (n.163-1379A>C) c.*418A>C (n.*418A>C) c.398A>C (p.Glu133Ala) c.494A>C (p.Glu165Ala) c.473A>C (p.Glu158Ala) c.311A>C (p.Glu104Ala) n.811A>C n.744A>C n.1727A>C n.414A>C c.515A>C (p.Glu172Ala) | |
1 | g.201363378T= | CA1219711166 | TNNT2 | c.503A= (p.Glu168=) c.488A= (p.Glu163=) c.485A= (p.Glu162=) c.518A= (p.Glu173=) c.470A= (p.Glu157=) n.982A= c.163-1379A= (n.163-1379A=) c.*418A= (n.*418A=) c.398A= (p.Glu133=) c.494A= (p.Glu165=) c.473A= (p.Glu158=) c.311A= (p.Glu104=) n.811A= n.744A= n.1727A= n.414A= c.515A= (p.Glu172=) | |
1 | g.201363379C>A | CA344204544 | TNNT2 | c.502G>T (p.Glu168Ter) c.487G>T (p.Glu163Ter) c.484G>T (p.Glu162Ter) c.517G>T (p.Glu173Ter) c.469G>T (p.Glu157Ter) n.981G>T c.163-1380G>T (n.163-1380G>T) c.*417G>T (n.*417G>T) c.397G>T (p.Glu133Ter) c.493G>T (p.Glu165Ter) c.472G>T (p.Glu158Ter) c.310G>T (p.Glu104Ter) n.810G>T n.743G>T n.1726G>T n.413G>T c.514G>T (p.Glu172Ter) | |
1 | g.201363379C= | CA1219711167 | TNNT2 | c.502G= (p.Glu168=) c.487G= (p.Glu163=) c.484G= (p.Glu162=) c.517G= (p.Glu173=) c.469G= (p.Glu157=) n.981G= c.163-1380G= (n.163-1380G=) c.*417G= (n.*417G=) c.397G= (p.Glu133=) c.493G= (p.Glu165=) c.472G= (p.Glu158=) c.310G= (p.Glu104=) n.810G= n.743G= n.1726G= n.413G= c.514G= (p.Glu172=) | |
1 | g.201363379C>G | CA344204546 | TNNT2 | c.502G>C (p.Glu168Gln) c.487G>C (p.Glu163Gln) c.484G>C (p.Glu162Gln) c.517G>C (p.Glu173Gln) c.469G>C (p.Glu157Gln) n.981G>C c.163-1380G>C (n.163-1380G>C) c.*417G>C (n.*417G>C) c.397G>C (p.Glu133Gln) c.493G>C (p.Glu165Gln) c.472G>C (p.Glu158Gln) c.310G>C (p.Glu104Gln) n.810G>C n.743G>C n.1726G>C n.413G>C c.514G>C (p.Glu172Gln) | ClinVar dbSNP gnomAD v4 |
1 | g.201363379C>T | CA344204548 | TNNT2 | c.502G>A (p.Glu168Lys) c.487G>A (p.Glu163Lys) c.484G>A (p.Glu162Lys) c.517G>A (p.Glu173Lys) c.469G>A (p.Glu157Lys) n.981G>A c.163-1380G>A (n.163-1380G>A) c.*417G>A (n.*417G>A) c.397G>A (p.Glu133Lys) c.493G>A (p.Glu165Lys) c.472G>A (p.Glu158Lys) c.310G>A (p.Glu104Lys) n.810G>A n.743G>A n.1726G>A n.413G>A c.514G>A (p.Glu172Lys) | ClinVar dbSNP |
1 | g.201363379_201363380delinsAA | CA004645 | TNNT2 | c.501_502delinsTT (p.Glu167AspfsTer2) c.486_487delinsTT (p.Glu162AspfsTer2) c.483_484delinsTT (p.Glu161AspfsTer2) c.516_517delinsTT (p.Glu172AspfsTer2) c.468_469delinsTT (p.Glu156AspfsTer2) n.980_981delinsTT c.163-1381_163-1380delinsTT (n.163-1381_163-1380delinsTT) c.*416_*417delinsTT (n.*416_*417delinsTT) c.396_397delinsTT (p.Glu132AspfsTer2) c.492_493delinsTT (p.Glu164AspfsTer2) c.471_472delinsTT (p.Glu157AspfsTer2) c.309_310delinsTT (p.Glu103AspfsTer2) n.809_810delinsTT n.742_743delinsTT n.1725_1726delinsTT n.412_413delinsTT c.513_514delinsTT (p.Glu171AspfsTer2) | ClinVar dbSNP |
1 | g.201363379_201363380delinsCC | CA1148224909 | TNNT2 | c.501_502delinsGG (p.Glu167=) c.486_487delinsGG (p.Glu162=) c.483_484delinsGG (p.Glu161=) c.516_517delinsGG (p.Glu172=) c.468_469delinsGG (p.Glu156=) n.980_981delinsGG c.163-1381_163-1380delinsGG (n.163-1381_163-1380delinsGG) c.*416_*417delinsGG (n.*416_*417delinsGG) c.396_397delinsGG (p.Glu132=) c.492_493delinsGG (p.Glu164=) c.471_472delinsGG (p.Glu157=) c.309_310delinsGG (p.Glu103=) n.809_810delinsGG n.742_743delinsGG n.1725_1726delinsGG n.412_413delinsGG c.513_514delinsGG (p.Glu171=) | |
1 | g.201363380C>A | CA344204550 | TNNT2 | c.501G>T (p.Glu167Asp) c.486G>T (p.Glu162Asp) c.483G>T (p.Glu161Asp) c.516G>T (p.Glu172Asp) c.468G>T (p.Glu156Asp) n.980G>T c.163-1381G>T (n.163-1381G>T) c.*416G>T (n.*416G>T) c.396G>T (p.Glu132Asp) c.492G>T (p.Glu164Asp) c.471G>T (p.Glu157Asp) c.309G>T (p.Glu103Asp) n.809G>T n.742G>T n.1725G>T n.412G>T c.513G>T (p.Glu171Asp) | |
1 | g.201363380C>G | CA344204553 | TNNT2 | c.501G>C (p.Glu167Asp) c.486G>C (p.Glu162Asp) c.483G>C (p.Glu161Asp) c.516G>C (p.Glu172Asp) c.468G>C (p.Glu156Asp) n.980G>C c.163-1381G>C (n.163-1381G>C) c.*416G>C (n.*416G>C) c.396G>C (p.Glu132Asp) c.492G>C (p.Glu164Asp) c.471G>C (p.Glu157Asp) c.309G>C (p.Glu103Asp) n.809G>C n.742G>C n.1725G>C n.412G>C c.513G>C (p.Glu171Asp) | gnomAD v4 |
1 | g.201363380C>T | CA422531853 | TNNT2 | c.501G>A (p.Glu167=) c.486G>A (p.Glu162=) c.483G>A (p.Glu161=) c.516G>A (p.Glu172=) c.468G>A (p.Glu156=) n.980G>A c.163-1381G>A (n.163-1381G>A) c.*416G>A (n.*416G>A) c.396G>A (p.Glu132=) c.492G>A (p.Glu164=) c.471G>A (p.Glu157=) c.309G>A (p.Glu103=) n.809G>A n.742G>A n.1725G>A n.412G>A c.513G>A (p.Glu171=) | ClinVar gnomAD v4 |
1 | g.201363381T>A | CA344204556 | TNNT2 | c.500A>T (p.Glu167Val) c.485A>T (p.Glu162Val) c.482A>T (p.Glu161Val) c.515A>T (p.Glu172Val) c.467A>T (p.Glu156Val) n.979A>T c.163-1382A>T (n.163-1382A>T) c.*415A>T (n.*415A>T) c.395A>T (p.Glu132Val) c.491A>T (p.Glu164Val) c.470A>T (p.Glu157Val) c.308A>T (p.Glu103Val) n.808A>T n.741A>T n.1724A>T n.411A>T c.512A>T (p.Glu171Val) | |
1 | g.201363381T>C | CA344204560 | TNNT2 | c.500A>G (p.Glu167Gly) c.485A>G (p.Glu162Gly) c.482A>G (p.Glu161Gly) c.515A>G (p.Glu172Gly) c.467A>G (p.Glu156Gly) n.979A>G c.163-1382A>G (n.163-1382A>G) c.*415A>G (n.*415A>G) c.395A>G (p.Glu132Gly) c.491A>G (p.Glu164Gly) c.470A>G (p.Glu157Gly) c.308A>G (p.Glu103Gly) n.808A>G n.741A>G n.1724A>G n.411A>G c.512A>G (p.Glu171Gly) | |
1 | g.201363381T>G | CA344204562 | TNNT2 | c.500A>C (p.Glu167Ala) c.485A>C (p.Glu162Ala) c.482A>C (p.Glu161Ala) c.515A>C (p.Glu172Ala) c.467A>C (p.Glu156Ala) n.979A>C c.163-1382A>C (n.163-1382A>C) c.*415A>C (n.*415A>C) c.395A>C (p.Glu132Ala) c.491A>C (p.Glu164Ala) c.470A>C (p.Glu157Ala) c.308A>C (p.Glu103Ala) n.808A>C n.741A>C n.1724A>C n.411A>C c.512A>C (p.Glu171Ala) | |
1 | g.201363382C>A | CA077423 | TNNT2 | c.499G>T (p.Glu167Ter) c.484G>T (p.Glu162Ter) c.481G>T (p.Glu161Ter) c.514G>T (p.Glu172Ter) c.466G>T (p.Glu156Ter) n.978G>T c.163-1383G>T (n.163-1383G>T) c.*414G>T (n.*414G>T) c.394G>T (p.Glu132Ter) c.490G>T (p.Glu164Ter) c.469G>T (p.Glu157Ter) c.307G>T (p.Glu103Ter) n.807G>T n.740G>T n.1723G>T n.410G>T c.511G>T (p.Glu171Ter) | |
1 | g.201363382C>G | CA077422 | TNNT2 | c.499G>C (p.Glu167Gln) c.484G>C (p.Glu162Gln) c.481G>C (p.Glu161Gln) c.514G>C (p.Glu172Gln) c.466G>C (p.Glu156Gln) n.978G>C c.163-1383G>C (n.163-1383G>C) c.*414G>C (n.*414G>C) c.394G>C (p.Glu132Gln) c.490G>C (p.Glu164Gln) c.469G>C (p.Glu157Gln) c.307G>C (p.Glu103Gln) n.807G>C n.740G>C n.1723G>C n.410G>C c.511G>C (p.Glu171Gln) | |
1 | g.201363382C>T | CA090425 | TNNT2 | c.499G>A (p.Glu167Lys) c.484G>A (p.Glu162Lys) c.481G>A (p.Glu161Lys) c.514G>A (p.Glu172Lys) c.466G>A (p.Glu156Lys) n.978G>A c.163-1383G>A (n.163-1383G>A) c.*414G>A (n.*414G>A) c.394G>A (p.Glu132Lys) c.490G>A (p.Glu164Lys) c.469G>A (p.Glu157Lys) c.307G>A (p.Glu103Lys) n.807G>A n.740G>A n.1723G>A n.410G>A c.511G>A (p.Glu171Lys) | gnomAD v4 |
1 | g.201363383C>A | CA077286 | TNNT2 | c.498G>T (p.Glu166Asp) c.483G>T (p.Glu161Asp) c.480G>T (p.Glu160Asp) c.513G>T (p.Glu171Asp) c.465G>T (p.Glu155Asp) n.977G>T c.163-1384G>T (n.163-1384G>T) c.*413G>T (n.*413G>T) c.393G>T (p.Glu131Asp) c.489G>T (p.Glu163Asp) c.468G>T (p.Glu156Asp) c.306G>T (p.Glu102Asp) n.806G>T n.739G>T n.1722G>T n.409G>T c.510G>T (p.Glu170Asp) | |
1 | g.201363383C= | CA1219711168 | TNNT2 | c.498G= (p.Glu166=) c.483G= (p.Glu161=) c.480G= (p.Glu160=) c.513G= (p.Glu171=) c.465G= (p.Glu155=) n.977G= c.163-1384G= (n.163-1384G=) c.*413G= (n.*413G=) c.393G= (p.Glu131=) c.489G= (p.Glu163=) c.468G= (p.Glu156=) c.306G= (p.Glu102=) n.806G= n.739G= n.1722G= n.409G= c.510G= (p.Glu170=) | |
1 | g.201363383C>G | CA344204568 | TNNT2 | c.498G>C (p.Glu166Asp) c.483G>C (p.Glu161Asp) c.480G>C (p.Glu160Asp) c.513G>C (p.Glu171Asp) c.465G>C (p.Glu155Asp) n.977G>C c.163-1384G>C (n.163-1384G>C) c.*413G>C (n.*413G>C) c.393G>C (p.Glu131Asp) c.489G>C (p.Glu163Asp) c.468G>C (p.Glu156Asp) c.306G>C (p.Glu102Asp) n.806G>C n.739G>C n.1722G>C n.409G>C c.510G>C (p.Glu170Asp) | gnomAD v4 |
1 | g.201363383C>T | CA422531867 | TNNT2 | c.498G>A (p.Glu166=) c.483G>A (p.Glu161=) c.480G>A (p.Glu160=) c.513G>A (p.Glu171=) c.465G>A (p.Glu155=) n.977G>A c.163-1384G>A (n.163-1384G>A) c.*413G>A (n.*413G>A) c.393G>A (p.Glu131=) c.489G>A (p.Glu163=) c.468G>A (p.Glu156=) c.306G>A (p.Glu102=) n.806G>A n.739G>A n.1722G>A n.409G>A c.510G>A (p.Glu170=) | ClinVar dbSNP |
1 | g.201363384T>A | CA344204570 | TNNT2 | c.497A>T (p.Glu166Val) c.482A>T (p.Glu161Val) c.479A>T (p.Glu160Val) c.512A>T (p.Glu171Val) c.464A>T (p.Glu155Val) n.976A>T c.163-1385A>T (n.163-1385A>T) c.*412A>T (n.*412A>T) c.392A>T (p.Glu131Val) c.488A>T (p.Glu163Val) c.467A>T (p.Glu156Val) c.305A>T (p.Glu102Val) n.805A>T n.738A>T n.1721A>T n.408A>T c.509A>T (p.Glu170Val) | |
1 | g.201363384T>C | CA088230 | TNNT2 | c.497A>G (p.Glu166Gly) c.482A>G (p.Glu161Gly) c.479A>G (p.Glu160Gly) c.512A>G (p.Glu171Gly) c.464A>G (p.Glu155Gly) n.976A>G c.163-1385A>G (n.163-1385A>G) c.*412A>G (n.*412A>G) c.392A>G (p.Glu131Gly) c.488A>G (p.Glu163Gly) c.467A>G (p.Glu156Gly) c.305A>G (p.Glu102Gly) n.805A>G n.738A>G n.1721A>G n.408A>G c.509A>G (p.Glu170Gly) | |
1 | g.201363384T>G | CA344204575 | TNNT2 | c.497A>C (p.Glu166Ala) c.482A>C (p.Glu161Ala) c.479A>C (p.Glu160Ala) c.512A>C (p.Glu171Ala) c.464A>C (p.Glu155Ala) n.976A>C c.163-1385A>C (n.163-1385A>C) c.*412A>C (n.*412A>C) c.392A>C (p.Glu131Ala) c.488A>C (p.Glu163Ala) c.467A>C (p.Glu156Ala) c.305A>C (p.Glu102Ala) n.805A>C n.738A>C n.1721A>C n.408A>C c.509A>C (p.Glu170Ala) | |
1 | g.201363385C>A | CA344204579 | TNNT2 | c.496G>T (p.Glu166Ter) c.481G>T (p.Glu161Ter) c.478G>T (p.Glu160Ter) c.511G>T (p.Glu171Ter) c.463G>T (p.Glu155Ter) n.975G>T c.163-1386G>T (n.163-1386G>T) c.*411G>T (n.*411G>T) c.391G>T (p.Glu131Ter) c.487G>T (p.Glu163Ter) c.466G>T (p.Glu156Ter) c.304G>T (p.Glu102Ter) n.804G>T n.737G>T n.1720G>T n.407G>T c.508G>T (p.Glu170Ter) | |
1 | g.201363385C= | CA1219711169 | TNNT2 | c.496G= (p.Glu166=) c.481G= (p.Glu161=) c.478G= (p.Glu160=) c.511G= (p.Glu171=) c.463G= (p.Glu155=) n.975G= c.163-1386G= (n.163-1386G=) c.*411G= (n.*411G=) c.391G= (p.Glu131=) c.487G= (p.Glu163=) c.466G= (p.Glu156=) c.304G= (p.Glu102=) n.804G= n.737G= n.1720G= n.407G= c.508G= (p.Glu170=) | |
1 | g.201363385C>G | CA077285 | TNNT2 | c.496G>C (p.Glu166Gln) c.481G>C (p.Glu161Gln) c.478G>C (p.Glu160Gln) c.511G>C (p.Glu171Gln) c.463G>C (p.Glu155Gln) n.975G>C c.163-1386G>C (n.163-1386G>C) c.*411G>C (n.*411G>C) c.391G>C (p.Glu131Gln) c.487G>C (p.Glu163Gln) c.466G>C (p.Glu156Gln) c.304G>C (p.Glu102Gln) n.804G>C n.737G>C n.1720G>C n.407G>C c.508G>C (p.Glu170Gln) | |
1 | g.201363385C>T | CA077284 | TNNT2 | c.496G>A (p.Glu166Lys) c.481G>A (p.Glu161Lys) c.478G>A (p.Glu160Lys) c.511G>A (p.Glu171Lys) c.463G>A (p.Glu155Lys) n.975G>A c.163-1386G>A (n.163-1386G>A) c.*411G>A (n.*411G>A) c.391G>A (p.Glu131Lys) c.487G>A (p.Glu163Lys) c.466G>A (p.Glu156Lys) c.304G>A (p.Glu102Lys) n.804G>A n.737G>A n.1720G>A n.407G>A c.508G>A (p.Glu170Lys) | ClinVar dbSNP |
1 | g.201363386C>A | CA344204582 | TNNT2 | c.495G>T (p.Glu165Asp) c.480G>T (p.Glu160Asp) c.477G>T (p.Glu159Asp) c.510G>T (p.Glu170Asp) c.462G>T (p.Glu154Asp) n.974G>T c.163-1387G>T (n.163-1387G>T) c.*410G>T (n.*410G>T) c.390G>T (p.Glu130Asp) c.486G>T (p.Glu162Asp) c.465G>T (p.Glu155Asp) c.303G>T (p.Glu101Asp) n.803G>T n.736G>T n.1719G>T n.406G>T c.507G>T (p.Glu169Asp) | |
1 | g.201363386C>G | CA344204585 | TNNT2 | c.495G>C (p.Glu165Asp) c.480G>C (p.Glu160Asp) c.477G>C (p.Glu159Asp) c.510G>C (p.Glu170Asp) c.462G>C (p.Glu154Asp) n.974G>C c.163-1387G>C (n.163-1387G>C) c.*410G>C (n.*410G>C) c.390G>C (p.Glu130Asp) c.486G>C (p.Glu162Asp) c.465G>C (p.Glu155Asp) c.303G>C (p.Glu101Asp) n.803G>C n.736G>C n.1719G>C n.406G>C c.507G>C (p.Glu169Asp) | |
1 | g.201363386C>T | CA422531910 | TNNT2 | c.495G>A (p.Glu165=) c.480G>A (p.Glu160=) c.477G>A (p.Glu159=) c.510G>A (p.Glu170=) c.462G>A (p.Glu154=) n.974G>A c.163-1387G>A (n.163-1387G>A) c.*410G>A (n.*410G>A) c.390G>A (p.Glu130=) c.486G>A (p.Glu162=) c.465G>A (p.Glu155=) c.303G>A (p.Glu101=) n.803G>A n.736G>A n.1719G>A n.406G>A c.507G>A (p.Glu169=) | gnomAD v4 |
1 | g.201363387T>A | CA344204587 | TNNT2 | c.494A>T (p.Glu165Val) c.479A>T (p.Glu160Val) c.476A>T (p.Glu159Val) c.509A>T (p.Glu170Val) c.461A>T (p.Glu154Val) n.973A>T c.163-1388A>T (n.163-1388A>T) c.*409A>T (n.*409A>T) c.389A>T (p.Glu130Val) c.485A>T (p.Glu162Val) c.464A>T (p.Glu155Val) c.302A>T (p.Glu101Val) n.802A>T n.735A>T n.1718A>T n.405A>T c.506A>T (p.Glu169Val) | |
1 | g.201363387T>C | CA344204589 | TNNT2 | c.494A>G (p.Glu165Gly) c.479A>G (p.Glu160Gly) c.476A>G (p.Glu159Gly) c.509A>G (p.Glu170Gly) c.461A>G (p.Glu154Gly) n.973A>G c.163-1388A>G (n.163-1388A>G) c.*409A>G (n.*409A>G) c.389A>G (p.Glu130Gly) c.485A>G (p.Glu162Gly) c.464A>G (p.Glu155Gly) c.302A>G (p.Glu101Gly) n.802A>G n.735A>G n.1718A>G n.405A>G c.506A>G (p.Glu169Gly) | |
1 | g.201363387T>G | CA344204591 | TNNT2 | c.494A>C (p.Glu165Ala) c.479A>C (p.Glu160Ala) c.476A>C (p.Glu159Ala) c.509A>C (p.Glu170Ala) c.461A>C (p.Glu154Ala) n.973A>C c.163-1388A>C (n.163-1388A>C) c.*409A>C (n.*409A>C) c.389A>C (p.Glu130Ala) c.485A>C (p.Glu162Ala) c.464A>C (p.Glu155Ala) c.302A>C (p.Glu101Ala) n.802A>C n.735A>C n.1718A>C n.405A>C c.506A>C (p.Glu169Ala) | |
1 | g.201363388C>A | CA344204597 | TNNT2 | c.493G>T (p.Glu165Ter) c.478G>T (p.Glu160Ter) c.475G>T (p.Glu159Ter) c.508G>T (p.Glu170Ter) c.460G>T (p.Glu154Ter) n.972G>T c.163-1389G>T (n.163-1389G>T) c.*408G>T (n.*408G>T) c.388G>T (p.Glu130Ter) c.484G>T (p.Glu162Ter) c.463G>T (p.Glu155Ter) c.301G>T (p.Glu101Ter) n.801G>T n.734G>T n.1717G>T n.404G>T c.505G>T (p.Glu169Ter) | |
1 | g.201363388C>G | CA344204596 | TNNT2 | c.493G>C (p.Glu165Gln) c.478G>C (p.Glu160Gln) c.475G>C (p.Glu159Gln) c.508G>C (p.Glu170Gln) c.460G>C (p.Glu154Gln) n.972G>C c.163-1389G>C (n.163-1389G>C) c.*408G>C (n.*408G>C) c.388G>C (p.Glu130Gln) c.484G>C (p.Glu162Gln) c.463G>C (p.Glu155Gln) c.301G>C (p.Glu101Gln) n.801G>C n.734G>C n.1717G>C n.404G>C c.505G>C (p.Glu169Gln) | |
1 | g.201363388C>T | CA344204594 | TNNT2 | c.493G>A (p.Glu165Lys) c.478G>A (p.Glu160Lys) c.475G>A (p.Glu159Lys) c.508G>A (p.Glu170Lys) c.460G>A (p.Glu154Lys) n.972G>A c.163-1389G>A (n.163-1389G>A) c.*408G>A (n.*408G>A) c.388G>A (p.Glu130Lys) c.484G>A (p.Glu162Lys) c.463G>A (p.Glu155Lys) c.301G>A (p.Glu101Lys) n.801G>A n.734G>A n.1717G>A n.404G>A c.505G>A (p.Glu169Lys) | |
1 | g.201363389T>A | CA422531928 | TNNT2 | c.492A>T (p.Arg164=) c.477A>T (p.Arg159=) c.474A>T (p.Arg158=) c.507A>T (p.Arg169=) c.459A>T (p.Arg153=) n.971A>T c.163-1390A>T (n.163-1390A>T) c.*407A>T (n.*407A>T) c.387A>T (p.Arg129=) c.483A>T (p.Arg161=) c.462A>T (p.Arg154=) c.300A>T (p.Arg100=) n.800A>T n.733A>T n.1716A>T n.403A>T c.504A>T (p.Arg168=) | dbSNP |
1 | g.201363389T>C | CA422531931 | TNNT2 | c.492A>G (p.Arg164=) c.477A>G (p.Arg159=) c.474A>G (p.Arg158=) c.507A>G (p.Arg169=) c.459A>G (p.Arg153=) n.971A>G c.163-1390A>G (n.163-1390A>G) c.*407A>G (n.*407A>G) c.387A>G (p.Arg129=) c.483A>G (p.Arg161=) c.462A>G (p.Arg154=) c.300A>G (p.Arg100=) n.800A>G n.733A>G n.1716A>G n.403A>G c.504A>G (p.Arg168=) | |
1 | g.201363389T>G | CA422531930 | TNNT2 | c.492A>C (p.Arg164=) c.477A>C (p.Arg159=) c.474A>C (p.Arg158=) c.507A>C (p.Arg169=) c.459A>C (p.Arg153=) n.971A>C c.163-1390A>C (n.163-1390A>C) c.*407A>C (n.*407A>C) c.387A>C (p.Arg129=) c.483A>C (p.Arg161=) c.462A>C (p.Arg154=) c.300A>C (p.Arg100=) n.800A>C n.733A>C n.1716A>C n.403A>C c.504A>C (p.Arg168=) |