| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.178632970C>A | CA349652084 | TTN | c.35457G>T (p.Glu11819Asp) c.16542G>T (p.Glu5514Asp) c.16341G>T (p.Glu5447Asp) c.15966G>T (p.Glu5322Asp) c.43161G>T (p.Glu14387Asp) c.38238G>T (p.Glu12746Asp) c.42258G>T (p.Glu14086Asp) c.16152G>T (p.Glu5384Asp) c.16011G>T (p.Glu5337Asp) c.42054G>T (p.Glu14018Asp) c.37452G>T (p.Glu12484Asp) c.37449G>T (p.Glu12483Asp) c.34491G>T (p.Glu11497Asp) c.16107G>T (p.Glu5369Asp) c.37602G>T (p.Glu12534Asp) c.37599G>T (p.Glu12533Asp) c.37032G>T (p.Glu12344Asp) c.34374G>T (p.Glu11458Asp) c.34293G>T (p.Glu11431Asp) c.16056G>T (p.Glu5352Asp) c.5910G>T (p.Glu1970Asp) | |
| 2 | g.178632970C= | CA1310556928 | TTN | c.35457G= (p.Glu11819=) c.16542G= (p.Glu5514=) c.16341G= (p.Glu5447=) c.15966G= (p.Glu5322=) c.43161G= (p.Glu14387=) c.38238G= (p.Glu12746=) c.42258G= (p.Glu14086=) c.16152G= (p.Glu5384=) c.16011G= (p.Glu5337=) c.42054G= (p.Glu14018=) c.37452G= (p.Glu12484=) c.37449G= (p.Glu12483=) c.34491G= (p.Glu11497=) c.16107G= (p.Glu5369=) c.37602G= (p.Glu12534=) c.37599G= (p.Glu12533=) c.37032G= (p.Glu12344=) c.34374G= (p.Glu11458=) c.34293G= (p.Glu11431=) c.16056G= (p.Glu5352=) c.5910G= (p.Glu1970=) | |
| 2 | g.178632970C>G | CA349652086 | TTN | c.35457G>C (p.Glu11819Asp) c.16542G>C (p.Glu5514Asp) c.16341G>C (p.Glu5447Asp) c.15966G>C (p.Glu5322Asp) c.43161G>C (p.Glu14387Asp) c.38238G>C (p.Glu12746Asp) c.42258G>C (p.Glu14086Asp) c.16152G>C (p.Glu5384Asp) c.16011G>C (p.Glu5337Asp) c.42054G>C (p.Glu14018Asp) c.37452G>C (p.Glu12484Asp) c.37449G>C (p.Glu12483Asp) c.34491G>C (p.Glu11497Asp) c.16107G>C (p.Glu5369Asp) c.37602G>C (p.Glu12534Asp) c.37599G>C (p.Glu12533Asp) c.37032G>C (p.Glu12344Asp) c.34374G>C (p.Glu11458Asp) c.34293G>C (p.Glu11431Asp) c.16056G>C (p.Glu5352Asp) c.5910G>C (p.Glu1970Asp) | |
| 2 | g.178632970C>T | CA1995930 | TTN | c.35457G>A (p.Glu11819=) c.16542G>A (p.Glu5514=) c.16341G>A (p.Glu5447=) c.15966G>A (p.Glu5322=) c.43161G>A (p.Glu14387=) c.38238G>A (p.Glu12746=) c.42258G>A (p.Glu14086=) c.16152G>A (p.Glu5384=) c.16011G>A (p.Glu5337=) c.42054G>A (p.Glu14018=) c.37452G>A (p.Glu12484=) c.37449G>A (p.Glu12483=) c.34491G>A (p.Glu11497=) c.16107G>A (p.Glu5369=) c.37602G>A (p.Glu12534=) c.37599G>A (p.Glu12533=) c.37032G>A (p.Glu12344=) c.34374G>A (p.Glu11458=) c.34293G>A (p.Glu11431=) c.16056G>A (p.Glu5352=) c.5910G>A (p.Glu1970=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.178632971T>A | CA1995931 | TTN | c.35456A>T (p.Glu11819Val) c.16541A>T (p.Glu5514Val) c.16340A>T (p.Glu5447Val) c.15965A>T (p.Glu5322Val) c.43160A>T (p.Glu14387Val) c.38237A>T (p.Glu12746Val) c.42257A>T (p.Glu14086Val) c.16151A>T (p.Glu5384Val) c.16010A>T (p.Glu5337Val) c.42053A>T (p.Glu14018Val) c.37451A>T (p.Glu12484Val) c.37448A>T (p.Glu12483Val) c.34490A>T (p.Glu11497Val) c.16106A>T (p.Glu5369Val) c.37601A>T (p.Glu12534Val) c.37598A>T (p.Glu12533Val) c.37031A>T (p.Glu12344Val) c.34373A>T (p.Glu11458Val) c.34292A>T (p.Glu11431Val) c.16055A>T (p.Glu5352Val) c.5909A>T (p.Glu1970Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.178632971T>C | CA349652089 | TTN | c.35456A>G (p.Glu11819Gly) c.16541A>G (p.Glu5514Gly) c.16340A>G (p.Glu5447Gly) c.15965A>G (p.Glu5322Gly) c.43160A>G (p.Glu14387Gly) c.38237A>G (p.Glu12746Gly) c.42257A>G (p.Glu14086Gly) c.16151A>G (p.Glu5384Gly) c.16010A>G (p.Glu5337Gly) c.42053A>G (p.Glu14018Gly) c.37451A>G (p.Glu12484Gly) c.37448A>G (p.Glu12483Gly) c.34490A>G (p.Glu11497Gly) c.16106A>G (p.Glu5369Gly) c.37601A>G (p.Glu12534Gly) c.37598A>G (p.Glu12533Gly) c.37031A>G (p.Glu12344Gly) c.34373A>G (p.Glu11458Gly) c.34292A>G (p.Glu11431Gly) c.16055A>G (p.Glu5352Gly) c.5909A>G (p.Glu1970Gly) | |
| 2 | g.178632971T>G | CA349652091 | TTN | c.35456A>C (p.Glu11819Ala) c.16541A>C (p.Glu5514Ala) c.16340A>C (p.Glu5447Ala) c.15965A>C (p.Glu5322Ala) c.43160A>C (p.Glu14387Ala) c.38237A>C (p.Glu12746Ala) c.42257A>C (p.Glu14086Ala) c.16151A>C (p.Glu5384Ala) c.16010A>C (p.Glu5337Ala) c.42053A>C (p.Glu14018Ala) c.37451A>C (p.Glu12484Ala) c.37448A>C (p.Glu12483Ala) c.34490A>C (p.Glu11497Ala) c.16106A>C (p.Glu5369Ala) c.37601A>C (p.Glu12534Ala) c.37598A>C (p.Glu12533Ala) c.37031A>C (p.Glu12344Ala) c.34373A>C (p.Glu11458Ala) c.34292A>C (p.Glu11431Ala) c.16055A>C (p.Glu5352Ala) c.5909A>C (p.Glu1970Ala) | gnomAD v4 |
| 2 | g.178632971T= | CA1310556929 | TTN | c.35456A= (p.Glu11819=) c.16541A= (p.Glu5514=) c.16340A= (p.Glu5447=) c.15965A= (p.Glu5322=) c.43160A= (p.Glu14387=) c.38237A= (p.Glu12746=) c.42257A= (p.Glu14086=) c.16151A= (p.Glu5384=) c.16010A= (p.Glu5337=) c.42053A= (p.Glu14018=) c.37451A= (p.Glu12484=) c.37448A= (p.Glu12483=) c.34490A= (p.Glu11497=) c.16106A= (p.Glu5369=) c.37601A= (p.Glu12534=) c.37598A= (p.Glu12533=) c.37031A= (p.Glu12344=) c.34373A= (p.Glu11458=) c.34292A= (p.Glu11431=) c.16055A= (p.Glu5352=) c.5909A= (p.Glu1970=) | |
| 2 | g.178632972C>A | CA349652092 | TTN | c.35455G>T (p.Glu11819Ter) c.16540G>T (p.Glu5514Ter) c.16339G>T (p.Glu5447Ter) c.15964G>T (p.Glu5322Ter) c.43159G>T (p.Glu14387Ter) c.38236G>T (p.Glu12746Ter) c.42256G>T (p.Glu14086Ter) c.16150G>T (p.Glu5384Ter) c.16009G>T (p.Glu5337Ter) c.42052G>T (p.Glu14018Ter) c.37450G>T (p.Glu12484Ter) c.37447G>T (p.Glu12483Ter) c.34489G>T (p.Glu11497Ter) c.16105G>T (p.Glu5369Ter) c.37600G>T (p.Glu12534Ter) c.37597G>T (p.Glu12533Ter) c.37030G>T (p.Glu12344Ter) c.34372G>T (p.Glu11458Ter) c.34291G>T (p.Glu11431Ter) c.16054G>T (p.Glu5352Ter) c.5908G>T (p.Glu1970Ter) | |
| 2 | g.178632972C= | CA1310556930 | TTN | c.35455G= (p.Glu11819=) c.16540G= (p.Glu5514=) c.16339G= (p.Glu5447=) c.15964G= (p.Glu5322=) c.43159G= (p.Glu14387=) c.38236G= (p.Glu12746=) c.42256G= (p.Glu14086=) c.16150G= (p.Glu5384=) c.16009G= (p.Glu5337=) c.42052G= (p.Glu14018=) c.37450G= (p.Glu12484=) c.37447G= (p.Glu12483=) c.34489G= (p.Glu11497=) c.16105G= (p.Glu5369=) c.37600G= (p.Glu12534=) c.37597G= (p.Glu12533=) c.37030G= (p.Glu12344=) c.34372G= (p.Glu11458=) c.34291G= (p.Glu11431=) c.16054G= (p.Glu5352=) c.5908G= (p.Glu1970=) | |
| 2 | g.178632972C>G | CA349652094 | TTN | c.35455G>C (p.Glu11819Gln) c.16540G>C (p.Glu5514Gln) c.16339G>C (p.Glu5447Gln) c.15964G>C (p.Glu5322Gln) c.43159G>C (p.Glu14387Gln) c.38236G>C (p.Glu12746Gln) c.42256G>C (p.Glu14086Gln) c.16150G>C (p.Glu5384Gln) c.16009G>C (p.Glu5337Gln) c.42052G>C (p.Glu14018Gln) c.37450G>C (p.Glu12484Gln) c.37447G>C (p.Glu12483Gln) c.34489G>C (p.Glu11497Gln) c.16105G>C (p.Glu5369Gln) c.37600G>C (p.Glu12534Gln) c.37597G>C (p.Glu12533Gln) c.37030G>C (p.Glu12344Gln) c.34372G>C (p.Glu11458Gln) c.34291G>C (p.Glu11431Gln) c.16054G>C (p.Glu5352Gln) c.5908G>C (p.Glu1970Gln) | gnomAD v4 |
| 2 | g.178632972C>T | CA10604095 | TTN | c.35455G>A (p.Glu11819Lys) c.16540G>A (p.Glu5514Lys) c.16339G>A (p.Glu5447Lys) c.15964G>A (p.Glu5322Lys) c.43159G>A (p.Glu14387Lys) c.38236G>A (p.Glu12746Lys) c.42256G>A (p.Glu14086Lys) c.16150G>A (p.Glu5384Lys) c.16009G>A (p.Glu5337Lys) c.42052G>A (p.Glu14018Lys) c.37450G>A (p.Glu12484Lys) c.37447G>A (p.Glu12483Lys) c.34489G>A (p.Glu11497Lys) c.16105G>A (p.Glu5369Lys) c.37600G>A (p.Glu12534Lys) c.37597G>A (p.Glu12533Lys) c.37030G>A (p.Glu12344Lys) c.34372G>A (p.Glu11458Lys) c.34291G>A (p.Glu11431Lys) c.16054G>A (p.Glu5352Lys) c.5908G>A (p.Glu1970Lys) | ClinVar dbSNP |
| 2 | g.178632973T>A | CA430276963 | TTN | c.35454A>T (p.Gly11818=) c.16539A>T (p.Gly5513=) c.16338A>T (p.Gly5446=) c.15963A>T (p.Gly5321=) c.43158A>T (p.Gly14386=) c.38235A>T (p.Gly12745=) c.42255A>T (p.Gly14085=) c.16149A>T (p.Gly5383=) c.16008A>T (p.Gly5336=) c.42051A>T (p.Gly14017=) c.37449A>T (p.Gly12483=) c.37446A>T (p.Gly12482=) c.34488A>T (p.Gly11496=) c.16104A>T (p.Gly5368=) c.37599A>T (p.Gly12533=) c.37596A>T (p.Gly12532=) c.37029A>T (p.Gly12343=) c.34371A>T (p.Gly11457=) c.34290A>T (p.Gly11430=) c.16053A>T (p.Gly5351=) c.5907A>T (p.Gly1969=) | |
| 2 | g.178632973T>C | CA430276964 | TTN | c.35454A>G (p.Gly11818=) c.16539A>G (p.Gly5513=) c.16338A>G (p.Gly5446=) c.15963A>G (p.Gly5321=) c.43158A>G (p.Gly14386=) c.38235A>G (p.Gly12745=) c.42255A>G (p.Gly14085=) c.16149A>G (p.Gly5383=) c.16008A>G (p.Gly5336=) c.42051A>G (p.Gly14017=) c.37449A>G (p.Gly12483=) c.37446A>G (p.Gly12482=) c.34488A>G (p.Gly11496=) c.16104A>G (p.Gly5368=) c.37599A>G (p.Gly12533=) c.37596A>G (p.Gly12532=) c.37029A>G (p.Gly12343=) c.34371A>G (p.Gly11457=) c.34290A>G (p.Gly11430=) c.16053A>G (p.Gly5351=) c.5907A>G (p.Gly1969=) | |
| 2 | g.178632973T>G | CA430276965 | TTN | c.35454A>C (p.Gly11818=) c.16539A>C (p.Gly5513=) c.16338A>C (p.Gly5446=) c.15963A>C (p.Gly5321=) c.43158A>C (p.Gly14386=) c.38235A>C (p.Gly12745=) c.42255A>C (p.Gly14085=) c.16149A>C (p.Gly5383=) c.16008A>C (p.Gly5336=) c.42051A>C (p.Gly14017=) c.37449A>C (p.Gly12483=) c.37446A>C (p.Gly12482=) c.34488A>C (p.Gly11496=) c.16104A>C (p.Gly5368=) c.37599A>C (p.Gly12533=) c.37596A>C (p.Gly12532=) c.37029A>C (p.Gly12343=) c.34371A>C (p.Gly11457=) c.34290A>C (p.Gly11430=) c.16053A>C (p.Gly5351=) c.5907A>C (p.Gly1969=) | ClinVar gnomAD v4 |
| 2 | g.178632974C>A | CA349652103 | TTN | c.35453G>T (p.Gly11818Val) c.16538G>T (p.Gly5513Val) c.16337G>T (p.Gly5446Val) c.15962G>T (p.Gly5321Val) c.43157G>T (p.Gly14386Val) c.38234G>T (p.Gly12745Val) c.42254G>T (p.Gly14085Val) c.16148G>T (p.Gly5383Val) c.16007G>T (p.Gly5336Val) c.42050G>T (p.Gly14017Val) c.37448G>T (p.Gly12483Val) c.37445G>T (p.Gly12482Val) c.34487G>T (p.Gly11496Val) c.16103G>T (p.Gly5368Val) c.37598G>T (p.Gly12533Val) c.37595G>T (p.Gly12532Val) c.37028G>T (p.Gly12343Val) c.34370G>T (p.Gly11457Val) c.34289G>T (p.Gly11430Val) c.16052G>T (p.Gly5351Val) c.5906G>T (p.Gly1969Val) | |
| 2 | g.178632974C>G | CA349652101 | TTN | c.35453G>C (p.Gly11818Ala) c.16538G>C (p.Gly5513Ala) c.16337G>C (p.Gly5446Ala) c.15962G>C (p.Gly5321Ala) c.43157G>C (p.Gly14386Ala) c.38234G>C (p.Gly12745Ala) c.42254G>C (p.Gly14085Ala) c.16148G>C (p.Gly5383Ala) c.16007G>C (p.Gly5336Ala) c.42050G>C (p.Gly14017Ala) c.37448G>C (p.Gly12483Ala) c.37445G>C (p.Gly12482Ala) c.34487G>C (p.Gly11496Ala) c.16103G>C (p.Gly5368Ala) c.37598G>C (p.Gly12533Ala) c.37595G>C (p.Gly12532Ala) c.37028G>C (p.Gly12343Ala) c.34370G>C (p.Gly11457Ala) c.34289G>C (p.Gly11430Ala) c.16052G>C (p.Gly5351Ala) c.5906G>C (p.Gly1969Ala) | |
| 2 | g.178632974C>T | CA349652100 | TTN | c.35453G>A (p.Gly11818Glu) c.16538G>A (p.Gly5513Glu) c.16337G>A (p.Gly5446Glu) c.15962G>A (p.Gly5321Glu) c.43157G>A (p.Gly14386Glu) c.38234G>A (p.Gly12745Glu) c.42254G>A (p.Gly14085Glu) c.16148G>A (p.Gly5383Glu) c.16007G>A (p.Gly5336Glu) c.42050G>A (p.Gly14017Glu) c.37448G>A (p.Gly12483Glu) c.37445G>A (p.Gly12482Glu) c.34487G>A (p.Gly11496Glu) c.16103G>A (p.Gly5368Glu) c.37598G>A (p.Gly12533Glu) c.37595G>A (p.Gly12532Glu) c.37028G>A (p.Gly12343Glu) c.34370G>A (p.Gly11457Glu) c.34289G>A (p.Gly11430Glu) c.16052G>A (p.Gly5351Glu) c.5906G>A (p.Gly1969Glu) | |
| 2 | g.178632975C>A | CA349652107 | TTN | c.35452G>T (p.Gly11818Ter) c.16537G>T (p.Gly5513Ter) c.16336G>T (p.Gly5446Ter) c.15961G>T (p.Gly5321Ter) c.43156G>T (p.Gly14386Ter) c.38233G>T (p.Gly12745Ter) c.42253G>T (p.Gly14085Ter) c.16147G>T (p.Gly5383Ter) c.16006G>T (p.Gly5336Ter) c.42049G>T (p.Gly14017Ter) c.37447G>T (p.Gly12483Ter) c.37444G>T (p.Gly12482Ter) c.34486G>T (p.Gly11496Ter) c.16102G>T (p.Gly5368Ter) c.37597G>T (p.Gly12533Ter) c.37594G>T (p.Gly12532Ter) c.37027G>T (p.Gly12343Ter) c.34369G>T (p.Gly11457Ter) c.34288G>T (p.Gly11430Ter) c.16051G>T (p.Gly5351Ter) c.5905G>T (p.Gly1969Ter) | |
| 2 | g.178632975C= | CA1310556931 | TTN | c.35452G= (p.Gly11818=) c.16537G= (p.Gly5513=) c.16336G= (p.Gly5446=) c.15961G= (p.Gly5321=) c.43156G= (p.Gly14386=) c.38233G= (p.Gly12745=) c.42253G= (p.Gly14085=) c.16147G= (p.Gly5383=) c.16006G= (p.Gly5336=) c.42049G= (p.Gly14017=) c.37447G= (p.Gly12483=) c.37444G= (p.Gly12482=) c.34486G= (p.Gly11496=) c.16102G= (p.Gly5368=) c.37597G= (p.Gly12533=) c.37594G= (p.Gly12532=) c.37027G= (p.Gly12343=) c.34369G= (p.Gly11457=) c.34288G= (p.Gly11430=) c.16051G= (p.Gly5351=) c.5905G= (p.Gly1969=) | |
| 2 | g.178632975C>G | CA1995932 | TTN | c.35452G>C (p.Gly11818Arg) c.16537G>C (p.Gly5513Arg) c.16336G>C (p.Gly5446Arg) c.15961G>C (p.Gly5321Arg) c.43156G>C (p.Gly14386Arg) c.38233G>C (p.Gly12745Arg) c.42253G>C (p.Gly14085Arg) c.16147G>C (p.Gly5383Arg) c.16006G>C (p.Gly5336Arg) c.42049G>C (p.Gly14017Arg) c.37447G>C (p.Gly12483Arg) c.37444G>C (p.Gly12482Arg) c.34486G>C (p.Gly11496Arg) c.16102G>C (p.Gly5368Arg) c.37597G>C (p.Gly12533Arg) c.37594G>C (p.Gly12532Arg) c.37027G>C (p.Gly12343Arg) c.34369G>C (p.Gly11457Arg) c.34288G>C (p.Gly11430Arg) c.16051G>C (p.Gly5351Arg) c.5905G>C (p.Gly1969Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.178632975C>T | CA349652109 | TTN | c.35452G>A (p.Gly11818Arg) c.16537G>A (p.Gly5513Arg) c.16336G>A (p.Gly5446Arg) c.15961G>A (p.Gly5321Arg) c.43156G>A (p.Gly14386Arg) c.38233G>A (p.Gly12745Arg) c.42253G>A (p.Gly14085Arg) c.16147G>A (p.Gly5383Arg) c.16006G>A (p.Gly5336Arg) c.42049G>A (p.Gly14017Arg) c.37447G>A (p.Gly12483Arg) c.37444G>A (p.Gly12482Arg) c.34486G>A (p.Gly11496Arg) c.16102G>A (p.Gly5368Arg) c.37597G>A (p.Gly12533Arg) c.37594G>A (p.Gly12532Arg) c.37027G>A (p.Gly12343Arg) c.34369G>A (p.Gly11457Arg) c.34288G>A (p.Gly11430Arg) c.16051G>A (p.Gly5351Arg) c.5905G>A (p.Gly1969Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.178632976T>A | CA430276968 | TTN | c.35451A>T (p.Thr11817=) c.16536A>T (p.Thr5512=) c.16335A>T (p.Thr5445=) c.15960A>T (p.Thr5320=) c.43155A>T (p.Thr14385=) c.38232A>T (p.Thr12744=) c.42252A>T (p.Thr14084=) c.16146A>T (p.Thr5382=) c.16005A>T (p.Thr5335=) c.42048A>T (p.Thr14016=) c.37446A>T (p.Thr12482=) c.37443A>T (p.Thr12481=) c.34485A>T (p.Thr11495=) c.16101A>T (p.Thr5367=) c.37596A>T (p.Thr12532=) c.37593A>T (p.Thr12531=) c.37026A>T (p.Thr12342=) c.34368A>T (p.Thr11456=) c.34287A>T (p.Thr11429=) c.16050A>T (p.Thr5350=) c.5904A>T (p.Thr1968=) | |
| 2 | g.178632976T>C | CA430276969 | TTN | c.35451A>G (p.Thr11817=) c.16536A>G (p.Thr5512=) c.16335A>G (p.Thr5445=) c.15960A>G (p.Thr5320=) c.43155A>G (p.Thr14385=) c.38232A>G (p.Thr12744=) c.42252A>G (p.Thr14084=) c.16146A>G (p.Thr5382=) c.16005A>G (p.Thr5335=) c.42048A>G (p.Thr14016=) c.37446A>G (p.Thr12482=) c.37443A>G (p.Thr12481=) c.34485A>G (p.Thr11495=) c.16101A>G (p.Thr5367=) c.37596A>G (p.Thr12532=) c.37593A>G (p.Thr12531=) c.37026A>G (p.Thr12342=) c.34368A>G (p.Thr11456=) c.34287A>G (p.Thr11429=) c.16050A>G (p.Thr5350=) c.5904A>G (p.Thr1968=) | |
| 2 | g.178632976T>G | CA430276970 | TTN | c.35451A>C (p.Thr11817=) c.16536A>C (p.Thr5512=) c.16335A>C (p.Thr5445=) c.15960A>C (p.Thr5320=) c.43155A>C (p.Thr14385=) c.38232A>C (p.Thr12744=) c.42252A>C (p.Thr14084=) c.16146A>C (p.Thr5382=) c.16005A>C (p.Thr5335=) c.42048A>C (p.Thr14016=) c.37446A>C (p.Thr12482=) c.37443A>C (p.Thr12481=) c.34485A>C (p.Thr11495=) c.16101A>C (p.Thr5367=) c.37596A>C (p.Thr12532=) c.37593A>C (p.Thr12531=) c.37026A>C (p.Thr12342=) c.34368A>C (p.Thr11456=) c.34287A>C (p.Thr11429=) c.16050A>C (p.Thr5350=) c.5904A>C (p.Thr1968=) | gnomAD v4 |
| 2 | g.178632977G>A | CA349652112 | TTN | c.35450C>T (p.Thr11817Ile) c.16535C>T (p.Thr5512Ile) c.16334C>T (p.Thr5445Ile) c.15959C>T (p.Thr5320Ile) c.43154C>T (p.Thr14385Ile) c.38231C>T (p.Thr12744Ile) c.42251C>T (p.Thr14084Ile) c.16145C>T (p.Thr5382Ile) c.16004C>T (p.Thr5335Ile) c.42047C>T (p.Thr14016Ile) c.37445C>T (p.Thr12482Ile) c.37442C>T (p.Thr12481Ile) c.34484C>T (p.Thr11495Ile) c.16100C>T (p.Thr5367Ile) c.37595C>T (p.Thr12532Ile) c.37592C>T (p.Thr12531Ile) c.37025C>T (p.Thr12342Ile) c.34367C>T (p.Thr11456Ile) c.34286C>T (p.Thr11429Ile) c.16049C>T (p.Thr5350Ile) c.5903C>T (p.Thr1968Ile) | |
| 2 | g.178632977G>C | CA349652114 | TTN | c.35450C>G (p.Thr11817Arg) c.16535C>G (p.Thr5512Arg) c.16334C>G (p.Thr5445Arg) c.15959C>G (p.Thr5320Arg) c.43154C>G (p.Thr14385Arg) c.38231C>G (p.Thr12744Arg) c.42251C>G (p.Thr14084Arg) c.16145C>G (p.Thr5382Arg) c.16004C>G (p.Thr5335Arg) c.42047C>G (p.Thr14016Arg) c.37445C>G (p.Thr12482Arg) c.37442C>G (p.Thr12481Arg) c.34484C>G (p.Thr11495Arg) c.16100C>G (p.Thr5367Arg) c.37595C>G (p.Thr12532Arg) c.37592C>G (p.Thr12531Arg) c.37025C>G (p.Thr12342Arg) c.34367C>G (p.Thr11456Arg) c.34286C>G (p.Thr11429Arg) c.16049C>G (p.Thr5350Arg) c.5903C>G (p.Thr1968Arg) | gnomAD v4 |
| 2 | g.178632977G= | CA1310556932 | TTN | c.35450C= (p.Thr11817=) c.16535C= (p.Thr5512=) c.16334C= (p.Thr5445=) c.15959C= (p.Thr5320=) c.43154C= (p.Thr14385=) c.38231C= (p.Thr12744=) c.42251C= (p.Thr14084=) c.16145C= (p.Thr5382=) c.16004C= (p.Thr5335=) c.42047C= (p.Thr14016=) c.37445C= (p.Thr12482=) c.37442C= (p.Thr12481=) c.34484C= (p.Thr11495=) c.16100C= (p.Thr5367=) c.37595C= (p.Thr12532=) c.37592C= (p.Thr12531=) c.37025C= (p.Thr12342=) c.34367C= (p.Thr11456=) c.34286C= (p.Thr11429=) c.16049C= (p.Thr5350=) c.5903C= (p.Thr1968=) | |
| 2 | g.178632977G>T | CA349652116 | TTN | c.35450C>A (p.Thr11817Lys) c.16535C>A (p.Thr5512Lys) c.16334C>A (p.Thr5445Lys) c.15959C>A (p.Thr5320Lys) c.43154C>A (p.Thr14385Lys) c.38231C>A (p.Thr12744Lys) c.42251C>A (p.Thr14084Lys) c.16145C>A (p.Thr5382Lys) c.16004C>A (p.Thr5335Lys) c.42047C>A (p.Thr14016Lys) c.37445C>A (p.Thr12482Lys) c.37442C>A (p.Thr12481Lys) c.34484C>A (p.Thr11495Lys) c.16100C>A (p.Thr5367Lys) c.37595C>A (p.Thr12532Lys) c.37592C>A (p.Thr12531Lys) c.37025C>A (p.Thr12342Lys) c.34367C>A (p.Thr11456Lys) c.34286C>A (p.Thr11429Lys) c.16049C>A (p.Thr5350Lys) c.5903C>A (p.Thr1968Lys) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.178632978T>A | CA349652120 | TTN | c.35449A>T (p.Thr11817Ser) c.16534A>T (p.Thr5512Ser) c.16333A>T (p.Thr5445Ser) c.15958A>T (p.Thr5320Ser) c.43153A>T (p.Thr14385Ser) c.38230A>T (p.Thr12744Ser) c.42250A>T (p.Thr14084Ser) c.16144A>T (p.Thr5382Ser) c.16003A>T (p.Thr5335Ser) c.42046A>T (p.Thr14016Ser) c.37444A>T (p.Thr12482Ser) c.37441A>T (p.Thr12481Ser) c.34483A>T (p.Thr11495Ser) c.16099A>T (p.Thr5367Ser) c.37594A>T (p.Thr12532Ser) c.37591A>T (p.Thr12531Ser) c.37024A>T (p.Thr12342Ser) c.34366A>T (p.Thr11456Ser) c.34285A>T (p.Thr11429Ser) c.16048A>T (p.Thr5350Ser) c.5902A>T (p.Thr1968Ser) | |
| 2 | g.178632978T>C | CA349652119 | TTN | c.35449A>G (p.Thr11817Ala) c.16534A>G (p.Thr5512Ala) c.16333A>G (p.Thr5445Ala) c.15958A>G (p.Thr5320Ala) c.43153A>G (p.Thr14385Ala) c.38230A>G (p.Thr12744Ala) c.42250A>G (p.Thr14084Ala) c.16144A>G (p.Thr5382Ala) c.16003A>G (p.Thr5335Ala) c.42046A>G (p.Thr14016Ala) c.37444A>G (p.Thr12482Ala) c.37441A>G (p.Thr12481Ala) c.34483A>G (p.Thr11495Ala) c.16099A>G (p.Thr5367Ala) c.37594A>G (p.Thr12532Ala) c.37591A>G (p.Thr12531Ala) c.37024A>G (p.Thr12342Ala) c.34366A>G (p.Thr11456Ala) c.34285A>G (p.Thr11429Ala) c.16048A>G (p.Thr5350Ala) c.5902A>G (p.Thr1968Ala) | |
| 2 | g.178632978T>G | CA61003773 | TTN | c.35449A>C (p.Thr11817Pro) c.16534A>C (p.Thr5512Pro) c.16333A>C (p.Thr5445Pro) c.15958A>C (p.Thr5320Pro) c.43153A>C (p.Thr14385Pro) c.38230A>C (p.Thr12744Pro) c.42250A>C (p.Thr14084Pro) c.16144A>C (p.Thr5382Pro) c.16003A>C (p.Thr5335Pro) c.42046A>C (p.Thr14016Pro) c.37444A>C (p.Thr12482Pro) c.37441A>C (p.Thr12481Pro) c.34483A>C (p.Thr11495Pro) c.16099A>C (p.Thr5367Pro) c.37594A>C (p.Thr12532Pro) c.37591A>C (p.Thr12531Pro) c.37024A>C (p.Thr12342Pro) c.34366A>C (p.Thr11456Pro) c.34285A>C (p.Thr11429Pro) c.16048A>C (p.Thr5350Pro) c.5902A>C (p.Thr1968Pro) | dbSNP |
| 2 | g.178632978T= | CA1310556933 | TTN | c.35449A= (p.Thr11817=) c.16534A= (p.Thr5512=) c.16333A= (p.Thr5445=) c.15958A= (p.Thr5320=) c.43153A= (p.Thr14385=) c.38230A= (p.Thr12744=) c.42250A= (p.Thr14084=) c.16144A= (p.Thr5382=) c.16003A= (p.Thr5335=) c.42046A= (p.Thr14016=) c.37444A= (p.Thr12482=) c.37441A= (p.Thr12481=) c.34483A= (p.Thr11495=) c.16099A= (p.Thr5367=) c.37594A= (p.Thr12532=) c.37591A= (p.Thr12531=) c.37024A= (p.Thr12342=) c.34366A= (p.Thr11456=) c.34285A= (p.Thr11429=) c.16048A= (p.Thr5350=) c.5902A= (p.Thr1968=) | |
| 2 | g.178632979C>A | CA349652123 | TTN | c.35448G>T (p.Met11816Ile) c.16533G>T (p.Met5511Ile) c.16332G>T (p.Met5444Ile) c.15957G>T (p.Met5319Ile) c.43152G>T (p.Met14384Ile) c.38229G>T (p.Met12743Ile) c.42249G>T (p.Met14083Ile) c.16143G>T (p.Met5381Ile) c.16002G>T (p.Met5334Ile) c.42045G>T (p.Met14015Ile) c.37443G>T (p.Met12481Ile) c.37440G>T (p.Met12480Ile) c.34482G>T (p.Met11494Ile) c.16098G>T (p.Met5366Ile) c.37593G>T (p.Met12531Ile) c.37590G>T (p.Met12530Ile) c.37023G>T (p.Met12341Ile) c.34365G>T (p.Met11455Ile) c.34284G>T (p.Met11428Ile) c.16047G>T (p.Met5349Ile) c.5901G>T (p.Met1967Ile) | gnomAD v4 |
| 2 | g.178632979C= | CA1310556934 | TTN | c.35448G= (p.Met11816=) c.16533G= (p.Met5511=) c.16332G= (p.Met5444=) c.15957G= (p.Met5319=) c.43152G= (p.Met14384=) c.38229G= (p.Met12743=) c.42249G= (p.Met14083=) c.16143G= (p.Met5381=) c.16002G= (p.Met5334=) c.42045G= (p.Met14015=) c.37443G= (p.Met12481=) c.37440G= (p.Met12480=) c.34482G= (p.Met11494=) c.16098G= (p.Met5366=) c.37593G= (p.Met12531=) c.37590G= (p.Met12530=) c.37023G= (p.Met12341=) c.34365G= (p.Met11455=) c.34284G= (p.Met11428=) c.16047G= (p.Met5349=) c.5901G= (p.Met1967=) | |
| 2 | g.178632979C>G | CA349652125 | TTN | c.35448G>C (p.Met11816Ile) c.16533G>C (p.Met5511Ile) c.16332G>C (p.Met5444Ile) c.15957G>C (p.Met5319Ile) c.43152G>C (p.Met14384Ile) c.38229G>C (p.Met12743Ile) c.42249G>C (p.Met14083Ile) c.16143G>C (p.Met5381Ile) c.16002G>C (p.Met5334Ile) c.42045G>C (p.Met14015Ile) c.37443G>C (p.Met12481Ile) c.37440G>C (p.Met12480Ile) c.34482G>C (p.Met11494Ile) c.16098G>C (p.Met5366Ile) c.37593G>C (p.Met12531Ile) c.37590G>C (p.Met12530Ile) c.37023G>C (p.Met12341Ile) c.34365G>C (p.Met11455Ile) c.34284G>C (p.Met11428Ile) c.16047G>C (p.Met5349Ile) c.5901G>C (p.Met1967Ile) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.178632979C>T | CA349652128 | TTN | c.35448G>A (p.Met11816Ile) c.16533G>A (p.Met5511Ile) c.16332G>A (p.Met5444Ile) c.15957G>A (p.Met5319Ile) c.43152G>A (p.Met14384Ile) c.38229G>A (p.Met12743Ile) c.42249G>A (p.Met14083Ile) c.16143G>A (p.Met5381Ile) c.16002G>A (p.Met5334Ile) c.42045G>A (p.Met14015Ile) c.37443G>A (p.Met12481Ile) c.37440G>A (p.Met12480Ile) c.34482G>A (p.Met11494Ile) c.16098G>A (p.Met5366Ile) c.37593G>A (p.Met12531Ile) c.37590G>A (p.Met12530Ile) c.37023G>A (p.Met12341Ile) c.34365G>A (p.Met11455Ile) c.34284G>A (p.Met11428Ile) c.16047G>A (p.Met5349Ile) c.5901G>A (p.Met1967Ile) | COSMIC COSMIC COSMIC COSMIC |
| 2 | g.178632980A>C | CA349652131 | TTN | c.35447T>G (p.Met11816Arg) c.16532T>G (p.Met5511Arg) c.16331T>G (p.Met5444Arg) c.15956T>G (p.Met5319Arg) c.43151T>G (p.Met14384Arg) c.38228T>G (p.Met12743Arg) c.42248T>G (p.Met14083Arg) c.16142T>G (p.Met5381Arg) c.16001T>G (p.Met5334Arg) c.42044T>G (p.Met14015Arg) c.37442T>G (p.Met12481Arg) c.37439T>G (p.Met12480Arg) c.34481T>G (p.Met11494Arg) c.16097T>G (p.Met5366Arg) c.37592T>G (p.Met12531Arg) c.37589T>G (p.Met12530Arg) c.37022T>G (p.Met12341Arg) c.34364T>G (p.Met11455Arg) c.34283T>G (p.Met11428Arg) c.16046T>G (p.Met5349Arg) c.5900T>G (p.Met1967Arg) | |
| 2 | g.178632980A>G | CA349652133 | TTN | c.35447T>C (p.Met11816Thr) c.16532T>C (p.Met5511Thr) c.16331T>C (p.Met5444Thr) c.15956T>C (p.Met5319Thr) c.43151T>C (p.Met14384Thr) c.38228T>C (p.Met12743Thr) c.42248T>C (p.Met14083Thr) c.16142T>C (p.Met5381Thr) c.16001T>C (p.Met5334Thr) c.42044T>C (p.Met14015Thr) c.37442T>C (p.Met12481Thr) c.37439T>C (p.Met12480Thr) c.34481T>C (p.Met11494Thr) c.16097T>C (p.Met5366Thr) c.37592T>C (p.Met12531Thr) c.37589T>C (p.Met12530Thr) c.37022T>C (p.Met12341Thr) c.34364T>C (p.Met11455Thr) c.34283T>C (p.Met11428Thr) c.16046T>C (p.Met5349Thr) c.5900T>C (p.Met1967Thr) | |
| 2 | g.178632980A>T | CA349652134 | TTN | c.35447T>A (p.Met11816Lys) c.16532T>A (p.Met5511Lys) c.16331T>A (p.Met5444Lys) c.15956T>A (p.Met5319Lys) c.43151T>A (p.Met14384Lys) c.38228T>A (p.Met12743Lys) c.42248T>A (p.Met14083Lys) c.16142T>A (p.Met5381Lys) c.16001T>A (p.Met5334Lys) c.42044T>A (p.Met14015Lys) c.37442T>A (p.Met12481Lys) c.37439T>A (p.Met12480Lys) c.34481T>A (p.Met11494Lys) c.16097T>A (p.Met5366Lys) c.37592T>A (p.Met12531Lys) c.37589T>A (p.Met12530Lys) c.37022T>A (p.Met12341Lys) c.34364T>A (p.Met11455Lys) c.34283T>A (p.Met11428Lys) c.16046T>A (p.Met5349Lys) c.5900T>A (p.Met1967Lys) | |
| 2 | g.178632981T>A | CA349652137 | TTN | c.35446A>T (p.Met11816Leu) c.16531A>T (p.Met5511Leu) c.16330A>T (p.Met5444Leu) c.15955A>T (p.Met5319Leu) c.43150A>T (p.Met14384Leu) c.38227A>T (p.Met12743Leu) c.42247A>T (p.Met14083Leu) c.16141A>T (p.Met5381Leu) c.16000A>T (p.Met5334Leu) c.42043A>T (p.Met14015Leu) c.37441A>T (p.Met12481Leu) c.37438A>T (p.Met12480Leu) c.34480A>T (p.Met11494Leu) c.16096A>T (p.Met5366Leu) c.37591A>T (p.Met12531Leu) c.37588A>T (p.Met12530Leu) c.37021A>T (p.Met12341Leu) c.34363A>T (p.Met11455Leu) c.34282A>T (p.Met11428Leu) c.16045A>T (p.Met5349Leu) c.5899A>T (p.Met1967Leu) | |
| 2 | g.178632981T>C | CA349652139 | TTN | c.35446A>G (p.Met11816Val) c.16531A>G (p.Met5511Val) c.16330A>G (p.Met5444Val) c.15955A>G (p.Met5319Val) c.43150A>G (p.Met14384Val) c.38227A>G (p.Met12743Val) c.42247A>G (p.Met14083Val) c.16141A>G (p.Met5381Val) c.16000A>G (p.Met5334Val) c.42043A>G (p.Met14015Val) c.37441A>G (p.Met12481Val) c.37438A>G (p.Met12480Val) c.34480A>G (p.Met11494Val) c.16096A>G (p.Met5366Val) c.37591A>G (p.Met12531Val) c.37588A>G (p.Met12530Val) c.37021A>G (p.Met12341Val) c.34363A>G (p.Met11455Val) c.34282A>G (p.Met11428Val) c.16045A>G (p.Met5349Val) c.5899A>G (p.Met1967Val) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.178632981T>G | CA349652141 | TTN | c.35446A>C (p.Met11816Leu) c.16531A>C (p.Met5511Leu) c.16330A>C (p.Met5444Leu) c.15955A>C (p.Met5319Leu) c.43150A>C (p.Met14384Leu) c.38227A>C (p.Met12743Leu) c.42247A>C (p.Met14083Leu) c.16141A>C (p.Met5381Leu) c.16000A>C (p.Met5334Leu) c.42043A>C (p.Met14015Leu) c.37441A>C (p.Met12481Leu) c.37438A>C (p.Met12480Leu) c.34480A>C (p.Met11494Leu) c.16096A>C (p.Met5366Leu) c.37591A>C (p.Met12531Leu) c.37588A>C (p.Met12530Leu) c.37021A>C (p.Met12341Leu) c.34363A>C (p.Met11455Leu) c.34282A>C (p.Met11428Leu) c.16045A>C (p.Met5349Leu) c.5899A>C (p.Met1967Leu) | |
| 2 | g.178632981T= | CA1310556935 | TTN | c.35446A= (p.Met11816=) c.16531A= (p.Met5511=) c.16330A= (p.Met5444=) c.15955A= (p.Met5319=) c.43150A= (p.Met14384=) c.38227A= (p.Met12743=) c.42247A= (p.Met14083=) c.16141A= (p.Met5381=) c.16000A= (p.Met5334=) c.42043A= (p.Met14015=) c.37441A= (p.Met12481=) c.37438A= (p.Met12480=) c.34480A= (p.Met11494=) c.16096A= (p.Met5366=) c.37591A= (p.Met12531=) c.37588A= (p.Met12530=) c.37021A= (p.Met12341=) c.34363A= (p.Met11455=) c.34282A= (p.Met11428=) c.16045A= (p.Met5349=) c.5899A= (p.Met1967=) | |
| 2 | g.178632982A>C | CA430276978 | TTN | c.35445T>G (p.Gly11815=) c.16530T>G (p.Gly5510=) c.16329T>G (p.Gly5443=) c.15954T>G (p.Gly5318=) c.43149T>G (p.Gly14383=) c.38226T>G (p.Gly12742=) c.42246T>G (p.Gly14082=) c.16140T>G (p.Gly5380=) c.15999T>G (p.Gly5333=) c.42042T>G (p.Gly14014=) c.37440T>G (p.Gly12480=) c.37437T>G (p.Gly12479=) c.34479T>G (p.Gly11493=) c.16095T>G (p.Gly5365=) c.37590T>G (p.Gly12530=) c.37587T>G (p.Gly12529=) c.37020T>G (p.Gly12340=) c.34362T>G (p.Gly11454=) c.34281T>G (p.Gly11427=) c.16044T>G (p.Gly5348=) c.5898T>G (p.Gly1966=) | |
| 2 | g.178632982A>G | CA430276979 | TTN | c.35445T>C (p.Gly11815=) c.16530T>C (p.Gly5510=) c.16329T>C (p.Gly5443=) c.15954T>C (p.Gly5318=) c.43149T>C (p.Gly14383=) c.38226T>C (p.Gly12742=) c.42246T>C (p.Gly14082=) c.16140T>C (p.Gly5380=) c.15999T>C (p.Gly5333=) c.42042T>C (p.Gly14014=) c.37440T>C (p.Gly12480=) c.37437T>C (p.Gly12479=) c.34479T>C (p.Gly11493=) c.16095T>C (p.Gly5365=) c.37590T>C (p.Gly12530=) c.37587T>C (p.Gly12529=) c.37020T>C (p.Gly12340=) c.34362T>C (p.Gly11454=) c.34281T>C (p.Gly11427=) c.16044T>C (p.Gly5348=) c.5898T>C (p.Gly1966=) | |
| 2 | g.178632982A>T | CA430276981 | TTN | c.35445T>A (p.Gly11815=) c.16530T>A (p.Gly5510=) c.16329T>A (p.Gly5443=) c.15954T>A (p.Gly5318=) c.43149T>A (p.Gly14383=) c.38226T>A (p.Gly12742=) c.42246T>A (p.Gly14082=) c.16140T>A (p.Gly5380=) c.15999T>A (p.Gly5333=) c.42042T>A (p.Gly14014=) c.37440T>A (p.Gly12480=) c.37437T>A (p.Gly12479=) c.34479T>A (p.Gly11493=) c.16095T>A (p.Gly5365=) c.37590T>A (p.Gly12530=) c.37587T>A (p.Gly12529=) c.37020T>A (p.Gly12340=) c.34362T>A (p.Gly11454=) c.34281T>A (p.Gly11427=) c.16044T>A (p.Gly5348=) c.5898T>A (p.Gly1966=) | |
| 2 | g.178632983C>A | CA349652144 | TTN | c.35444G>T (p.Gly11815Val) c.16529G>T (p.Gly5510Val) c.16328G>T (p.Gly5443Val) c.15953G>T (p.Gly5318Val) c.43148G>T (p.Gly14383Val) c.38225G>T (p.Gly12742Val) c.42245G>T (p.Gly14082Val) c.16139G>T (p.Gly5380Val) c.15998G>T (p.Gly5333Val) c.42041G>T (p.Gly14014Val) c.37439G>T (p.Gly12480Val) c.37436G>T (p.Gly12479Val) c.34478G>T (p.Gly11493Val) c.16094G>T (p.Gly5365Val) c.37589G>T (p.Gly12530Val) c.37586G>T (p.Gly12529Val) c.37019G>T (p.Gly12340Val) c.34361G>T (p.Gly11454Val) c.34280G>T (p.Gly11427Val) c.16043G>T (p.Gly5348Val) c.5897G>T (p.Gly1966Val) | |
| 2 | g.178632983C= | CA1310556936 | TTN | c.35444G= (p.Gly11815=) c.16529G= (p.Gly5510=) c.16328G= (p.Gly5443=) c.15953G= (p.Gly5318=) c.43148G= (p.Gly14383=) c.38225G= (p.Gly12742=) c.42245G= (p.Gly14082=) c.16139G= (p.Gly5380=) c.15998G= (p.Gly5333=) c.42041G= (p.Gly14014=) c.37439G= (p.Gly12480=) c.37436G= (p.Gly12479=) c.34478G= (p.Gly11493=) c.16094G= (p.Gly5365=) c.37589G= (p.Gly12530=) c.37586G= (p.Gly12529=) c.37019G= (p.Gly12340=) c.34361G= (p.Gly11454=) c.34280G= (p.Gly11427=) c.16043G= (p.Gly5348=) c.5897G= (p.Gly1966=) | |
| 2 | g.178632983C>G | CA349652146 | TTN | c.35444G>C (p.Gly11815Ala) c.16529G>C (p.Gly5510Ala) c.16328G>C (p.Gly5443Ala) c.15953G>C (p.Gly5318Ala) c.43148G>C (p.Gly14383Ala) c.38225G>C (p.Gly12742Ala) c.42245G>C (p.Gly14082Ala) c.16139G>C (p.Gly5380Ala) c.15998G>C (p.Gly5333Ala) c.42041G>C (p.Gly14014Ala) c.37439G>C (p.Gly12480Ala) c.37436G>C (p.Gly12479Ala) c.34478G>C (p.Gly11493Ala) c.16094G>C (p.Gly5365Ala) c.37589G>C (p.Gly12530Ala) c.37586G>C (p.Gly12529Ala) c.37019G>C (p.Gly12340Ala) c.34361G>C (p.Gly11454Ala) c.34280G>C (p.Gly11427Ala) c.16043G>C (p.Gly5348Ala) c.5897G>C (p.Gly1966Ala) |