| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.178792112_178794081del | CA916081376 | TTN | c.1398+320_1624del c.186+320_412del c.1443+320_1672del c.1443+320_1669del c.1398+320_1627del | ClinVar |
| 2 | g.178793482_178793493delinsGGCTTTATCGGC | CA1310624894 | TTN | c.1447_1458delinsGCCGATAAAGCC (p.Ala483=) c.235_246delinsGCCGATAAAGCC (p.Ala79=) c.1495_1506delinsGCCGATAAAGCC (p.Ala499=) c.1492_1503delinsGCCGATAAAGCC (p.Ala498=) c.1450_1461delinsGCCGATAAAGCC (p.Ala484=) | |
| 2 | g.178793484_178793494del | CA1310624895 | TTN | c.1447_1457del (p.Ala483GlnfsTer25) c.235_245del (p.Ala79GlnfsTer25) c.1495_1505del (p.Ala499GlnfsTer25) c.1492_1502del (p.Ala498GlnfsTer25) c.1450_1460del (p.Ala484GlnfsTer25) | dbSNP |
| 2 | g.178793494_178793496del | CA2662179437 | TTN | c.1448_1450del (p.Ala483del) c.236_238del (p.Ala79del) c.1496_1498del (p.Ala499del) c.1493_1495del (p.Ala498del) c.1451_1453del (p.Ala484del) | gnomAD v4 |
| 2 | g.178793491G>A | CA179412 | TTN | c.1449C>T (p.Ala483=) c.237C>T (p.Ala79=) c.1497C>T (p.Ala499=) c.1494C>T (p.Ala498=) c.1452C>T (p.Ala484=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.178793491G>C | CA430114718 | TTN | c.1449C>G (p.Ala483=) c.237C>G (p.Ala79=) c.1497C>G (p.Ala499=) c.1494C>G (p.Ala498=) c.1452C>G (p.Ala484=) | |
| 2 | g.178793491G= | CA1310624900 | TTN | c.1449C= (p.Ala483=) c.237C= (p.Ala79=) c.1497C= (p.Ala499=) c.1494C= (p.Ala498=) c.1452C= (p.Ala484=) | |
| 2 | g.178793491G>T | CA430114720 | TTN | c.1449C>A (p.Ala483=) c.237C>A (p.Ala79=) c.1497C>A (p.Ala499=) c.1494C>A (p.Ala498=) c.1452C>A (p.Ala484=) | dbSNP gnomAD v4 |
| 2 | g.178793492G>A | CA349513372 | TTN | c.1448C>T (p.Ala483Val) c.236C>T (p.Ala79Val) c.1496C>T (p.Ala499Val) c.1493C>T (p.Ala498Val) c.1451C>T (p.Ala484Val) | |
| 2 | g.178793492G>C | CA349513375 | TTN | c.1448C>G (p.Ala483Gly) c.236C>G (p.Ala79Gly) c.1496C>G (p.Ala499Gly) c.1493C>G (p.Ala498Gly) c.1451C>G (p.Ala484Gly) | |
| 2 | g.178793492G>T | CA349513383 | TTN | c.1448C>A (p.Ala483Asp) c.236C>A (p.Ala79Asp) c.1496C>A (p.Ala499Asp) c.1493C>A (p.Ala498Asp) c.1451C>A (p.Ala484Asp) | |
| 2 | g.178793493C>A | CA349513395 | TTN | c.1447G>T (p.Ala483Ser) c.235G>T (p.Ala79Ser) c.1495G>T (p.Ala499Ser) c.1492G>T (p.Ala498Ser) c.1450G>T (p.Ala484Ser) | |
| 2 | g.178793493C= | CA1310624901 | TTN | c.1447G= (p.Ala483=) c.235G= (p.Ala79=) c.1495G= (p.Ala499=) c.1492G= (p.Ala498=) c.1450G= (p.Ala484=) | |
| 2 | g.178793493C>G | CA349513411 | TTN | c.1447G>C (p.Ala483Pro) c.235G>C (p.Ala79Pro) c.1495G>C (p.Ala499Pro) c.1492G>C (p.Ala498Pro) c.1450G>C (p.Ala484Pro) | |
| 2 | g.178793493C>T | CA248252 | TTN | c.1447G>A (p.Ala483Thr) c.235G>A (p.Ala79Thr) c.1495G>A (p.Ala499Thr) c.1492G>A (p.Ala498Thr) c.1450G>A (p.Ala484Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.178793494G>A | CA2006041 | TTN | c.1446C>T (p.Ala482=) c.234C>T (p.Ala78=) c.1494C>T (p.Ala498=) c.1491C>T (p.Ala497=) c.1449C>T (p.Ala483=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.178793494G>C | CA430114731 | TTN | c.1446C>G (p.Ala482=) c.234C>G (p.Ala78=) c.1494C>G (p.Ala498=) c.1491C>G (p.Ala497=) c.1449C>G (p.Ala483=) | |
| 2 | g.178793494G= | CA1310624902 | TTN | c.1446C= (p.Ala482=) c.234C= (p.Ala78=) c.1494C= (p.Ala498=) c.1491C= (p.Ala497=) c.1449C= (p.Ala483=) | |
| 2 | g.178793494G>T | CA430114733 | TTN | c.1446C>A (p.Ala482=) c.234C>A (p.Ala78=) c.1494C>A (p.Ala498=) c.1491C>A (p.Ala497=) c.1449C>A (p.Ala483=) | ClinVar dbSNP gnomAD v4 |
| 2 | g.178793495G>A | CA349513439 | TTN | c.1445C>T (p.Ala482Val) c.233C>T (p.Ala78Val) c.1493C>T (p.Ala498Val) c.1490C>T (p.Ala497Val) c.1448C>T (p.Ala483Val) | |
| 2 | g.178793495G>C | CA349513427 | TTN | c.1445C>G (p.Ala482Gly) c.233C>G (p.Ala78Gly) c.1493C>G (p.Ala498Gly) c.1490C>G (p.Ala497Gly) c.1448C>G (p.Ala483Gly) | |
| 2 | g.178793495G>T | CA349513424 | TTN | c.1445C>A (p.Ala482Asp) c.233C>A (p.Ala78Asp) c.1493C>A (p.Ala498Asp) c.1490C>A (p.Ala497Asp) c.1448C>A (p.Ala483Asp) | gnomAD v4 |
| 2 | g.178793496C>A | CA2006042 | TTN | c.1444G>T (p.Ala482Ser) c.232G>T (p.Ala78Ser) c.1492G>T (p.Ala498Ser) c.1489G>T (p.Ala497Ser) c.1447G>T (p.Ala483Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.178793496C= | CA1310624903 | TTN | c.1444G= (p.Ala482=) c.232G= (p.Ala78=) c.1492G= (p.Ala498=) c.1489G= (p.Ala497=) c.1447G= (p.Ala483=) | |
| 2 | g.178793496C>G | CA349513442 | TTN | c.1444G>C (p.Ala482Pro) c.232G>C (p.Ala78Pro) c.1492G>C (p.Ala498Pro) c.1489G>C (p.Ala497Pro) c.1447G>C (p.Ala483Pro) | |
| 2 | g.178793496C>T | CA349513443 | TTN | c.1444G>A (p.Ala482Thr) c.232G>A (p.Ala78Thr) c.1492G>A (p.Ala498Thr) c.1489G>A (p.Ala497Thr) c.1447G>A (p.Ala483Thr) | |
| 2 | g.178793497C>A | CA430114742 | TTN | c.1443G>T (p.Val481=) c.231G>T (p.Val77=) c.1491G>T (p.Val497=) c.1488G>T (p.Val496=) c.1446G>T (p.Val482=) | |
| 2 | g.178793497C= | CA1310624904 | TTN | c.1443G= (p.Val481=) c.231G= (p.Val77=) c.1491G= (p.Val497=) c.1488G= (p.Val496=) c.1446G= (p.Val482=) | |
| 2 | g.178793497C>G | CA2006043 | TTN | c.1443G>C (p.Val481=) c.231G>C (p.Val77=) c.1491G>C (p.Val497=) c.1488G>C (p.Val496=) c.1446G>C (p.Val482=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.178793497C>T | CA430114744 | TTN | c.1443G>A (p.Val481=) c.231G>A (p.Val77=) c.1491G>A (p.Val497=) c.1488G>A (p.Val496=) c.1446G>A (p.Val482=) | |
| 2 | g.178793498A= | CA1310624905 | TTN | c.1442T= (p.Val481=) c.230T= (p.Val77=) c.1490T= (p.Val497=) c.1487T= (p.Val496=) c.1445T= (p.Val482=) | |
| 2 | g.178793498A>C | CA349513446 | TTN | c.1442T>G (p.Val481Gly) c.230T>G (p.Val77Gly) c.1490T>G (p.Val497Gly) c.1487T>G (p.Val496Gly) c.1445T>G (p.Val482Gly) | |
| 2 | g.178793498A>G | CA349513447 | TTN | c.1442T>C (p.Val481Ala) c.230T>C (p.Val77Ala) c.1490T>C (p.Val497Ala) c.1487T>C (p.Val496Ala) c.1445T>C (p.Val482Ala) | gnomAD v4 |
| 2 | g.178793498A>T | CA349513449 | TTN | c.1442T>A (p.Val481Glu) c.230T>A (p.Val77Glu) c.1490T>A (p.Val497Glu) c.1487T>A (p.Val496Glu) c.1445T>A (p.Val482Glu) | dbSNP gnomAD v4 |
| 2 | g.178793499C>A | CA349513453 | TTN | c.1441G>T (p.Val481Leu) c.229G>T (p.Val77Leu) c.1489G>T (p.Val497Leu) c.1486G>T (p.Val496Leu) c.1444G>T (p.Val482Leu) | |
| 2 | g.178793499C>G | CA349513459 | TTN | c.1441G>C (p.Val481Leu) c.229G>C (p.Val77Leu) c.1489G>C (p.Val497Leu) c.1486G>C (p.Val496Leu) c.1444G>C (p.Val482Leu) | |
| 2 | g.178793499C>T | CA349513455 | TTN | c.1441G>A (p.Val481Met) c.229G>A (p.Val77Met) c.1489G>A (p.Val497Met) c.1486G>A (p.Val496Met) c.1444G>A (p.Val482Met) | |
| 2 | g.178793500T>A | CA430114752 | TTN | c.1440A>T (p.Val480=) c.228A>T (p.Val76=) c.1488A>T (p.Val496=) c.1485A>T (p.Val495=) c.1443A>T (p.Val481=) | dbSNP |
| 2 | g.178793500T>C | CA430114754 | TTN | c.1440A>G (p.Val480=) c.228A>G (p.Val76=) c.1488A>G (p.Val496=) c.1485A>G (p.Val495=) c.1443A>G (p.Val481=) | |
| 2 | g.178793500T>G | CA2006044 | TTN | c.1440A>C (p.Val480=) c.228A>C (p.Val76=) c.1488A>C (p.Val496=) c.1485A>C (p.Val495=) c.1443A>C (p.Val481=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.178793500T= | CA1310624906 | TTN | c.1440A= (p.Val480=) c.228A= (p.Val76=) c.1488A= (p.Val496=) c.1485A= (p.Val495=) c.1443A= (p.Val481=) | |
| 2 | g.178793501A>C | CA349513460 | TTN | c.1439T>G (p.Val480Gly) c.227T>G (p.Val76Gly) c.1487T>G (p.Val496Gly) c.1484T>G (p.Val495Gly) c.1442T>G (p.Val481Gly) | |
| 2 | g.178793501A>G | CA349513461 | TTN | c.1439T>C (p.Val480Ala) c.227T>C (p.Val76Ala) c.1487T>C (p.Val496Ala) c.1484T>C (p.Val495Ala) c.1442T>C (p.Val481Ala) | |
| 2 | g.178793501A>T | CA349513464 | TTN | c.1439T>A (p.Val480Glu) c.227T>A (p.Val76Glu) c.1487T>A (p.Val496Glu) c.1484T>A (p.Val495Glu) c.1442T>A (p.Val481Glu) | |
| 2 | g.178793502C>A | CA349513468 | TTN | c.1438G>T (p.Val480Leu) c.226G>T (p.Val76Leu) c.1486G>T (p.Val496Leu) c.1483G>T (p.Val495Leu) c.1441G>T (p.Val481Leu) | |
| 2 | g.178793502C>G | CA349513470 | TTN | c.1438G>C (p.Val480Leu) c.226G>C (p.Val76Leu) c.1486G>C (p.Val496Leu) c.1483G>C (p.Val495Leu) c.1441G>C (p.Val481Leu) | |
| 2 | g.178793502C>T | CA349513469 | TTN | c.1438G>A (p.Val480Ile) c.226G>A (p.Val76Ile) c.1486G>A (p.Val496Ile) c.1483G>A (p.Val495Ile) c.1441G>A (p.Val481Ile) | |
| 2 | g.178793503T>A | CA430114777 | TTN | c.1437A>T (p.Val479=) c.225A>T (p.Val75=) c.1485A>T (p.Val495=) c.1482A>T (p.Val494=) c.1440A>T (p.Val480=) | |
| 2 | g.178793503T>C | CA430114779 | TTN | c.1437A>G (p.Val479=) c.225A>G (p.Val75=) c.1485A>G (p.Val495=) c.1482A>G (p.Val494=) c.1440A>G (p.Val480=) | gnomAD v4 |
| 2 | g.178793503T>G | CA430114783 | TTN | c.1437A>C (p.Val479=) c.225A>C (p.Val75=) c.1485A>C (p.Val495=) c.1482A>C (p.Val494=) c.1440A>C (p.Val480=) |