| 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 |
| 1 | g.201364342G= | CA1144229082 | TNNT2 | c.430C= (p.Arg144=) c.415C= (p.Arg139=) c.412C= (p.Arg138=) c.445C= (p.Arg149=) c.397C= (p.Arg133=) n.909C= c.163-2343C= (n.163-2343C=) c.*345C= (n.*345C=) c.325C= (p.Arg109=) c.421C= (p.Arg141=) c.400C= (p.Arg134=) c.238C= (p.Arg80=) n.671C= n.1654C= n.284C= n.341C= c.442C= (p.Arg148=) | dbSNP |
| 1 | g.201364342G>C | CA344205821 | TNNT2 | c.430C>G (p.Arg144Gly) c.415C>G (p.Arg139Gly) c.412C>G (p.Arg138Gly) c.445C>G (p.Arg149Gly) c.397C>G (p.Arg133Gly) n.909C>G c.163-2343C>G (n.163-2343C>G) c.*345C>G (n.*345C>G) c.325C>G (p.Arg109Gly) c.421C>G (p.Arg141Gly) c.400C>G (p.Arg134Gly) c.238C>G (p.Arg80Gly) n.671C>G n.1654C>G n.284C>G n.341C>G c.442C>G (p.Arg148Gly) | ClinVar dbSNP |