| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.201364342G>A | CA004505 | TNNT2 | c.430C>T (p.Arg144Cys) c.415C>T (p.Arg139Cys) c.412C>T (p.Arg138Cys) c.445C>T (p.Arg149Cys) c.397C>T (p.Arg133Cys) n.909C>T c.163-2343C>T (n.163-2343C>T) c.*345C>T (n.*345C>T) c.325C>T (p.Arg109Cys) c.421C>T (p.Arg141Cys) c.400C>T (p.Arg134Cys) c.238C>T (p.Arg80Cys) n.671C>T n.1654C>T n.284C>T n.341C>T c.442C>T (p.Arg148Cys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.201364342G>T | CA089867 | TNNT2 | c.430C>A (p.Arg144Ser) c.415C>A (p.Arg139Ser) c.412C>A (p.Arg138Ser) c.445C>A (p.Arg149Ser) c.397C>A (p.Arg133Ser) n.909C>A c.163-2343C>A (n.163-2343C>A) c.*345C>A (n.*345C>A) c.325C>A (p.Arg109Ser) c.421C>A (p.Arg141Ser) c.400C>A (p.Arg134Ser) c.238C>A (p.Arg80Ser) n.671C>A n.1654C>A n.284C>A n.341C>A c.442C>A (p.Arg148Ser) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC COSMIC |