| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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) | ClinVar dbSNP gnomAD v4 |
| 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) | ClinVar dbSNP |