| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.201364369G>C | CA344205964 | TNNT2 | c.403C>G (p.Arg135Gly) c.388C>G (p.Arg130Gly) c.385C>G (p.Arg129Gly) c.418C>G (p.Arg140Gly) c.370C>G (p.Arg124Gly) n.882C>G c.163-2370C>G (n.163-2370C>G) c.*318C>G (n.*318C>G) c.298C>G (p.Arg100Gly) c.394C>G (p.Arg132Gly) c.373C>G (p.Arg125Gly) c.211C>G (p.Arg71Gly) n.644C>G n.1627C>G n.257C>G n.314C>G c.415C>G (p.Arg139Gly) | ClinVar dbSNP |
| 1 | g.201364369G>A | CA004443 | TNNT2 | c.403C>T (p.Arg135Cys) c.388C>T (p.Arg130Cys) c.385C>T (p.Arg129Cys) c.418C>T (p.Arg140Cys) c.370C>T (p.Arg124Cys) n.882C>T c.163-2370C>T (n.163-2370C>T) c.*318C>T (n.*318C>T) c.298C>T (p.Arg100Cys) c.394C>T (p.Arg132Cys) c.373C>T (p.Arg125Cys) c.211C>T (p.Arg71Cys) n.644C>T n.1627C>T n.257C>T n.314C>T c.415C>T (p.Arg139Cys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |