| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.201364366G>A | CA090410 | TNNT2 | c.406C>T (p.Arg136Trp) c.391C>T (p.Arg131Trp) c.388C>T (p.Arg130Trp) c.421C>T (p.Arg141Trp) c.373C>T (p.Arg125Trp) n.885C>T c.163-2367C>T (n.163-2367C>T) c.*321C>T (n.*321C>T) c.301C>T (p.Arg101Trp) c.397C>T (p.Arg133Trp) c.376C>T (p.Arg126Trp) c.214C>T (p.Arg72Trp) n.647C>T n.1630C>T n.260C>T n.317C>T c.418C>T (p.Arg140Trp) | ClinVar dbSNP ExAC gnomAD v4 |
| 1 | g.201364366G>C | CA16603524 | TNNT2 | c.406C>G (p.Arg136Gly) c.391C>G (p.Arg131Gly) c.388C>G (p.Arg130Gly) c.421C>G (p.Arg141Gly) c.373C>G (p.Arg125Gly) n.885C>G c.163-2367C>G (n.163-2367C>G) c.*321C>G (n.*321C>G) c.301C>G (p.Arg101Gly) c.397C>G (p.Arg133Gly) c.376C>G (p.Arg126Gly) c.214C>G (p.Arg72Gly) n.647C>G n.1630C>G n.260C>G n.317C>G c.418C>G (p.Arg140Gly) | ClinVar dbSNP |
| 1 | g.201364366G= | CA1140887107 | TNNT2 | c.406C= (p.Arg136=) c.391C= (p.Arg131=) c.388C= (p.Arg130=) c.421C= (p.Arg141=) c.373C= (p.Arg125=) n.885C= c.163-2367C= (n.163-2367C=) c.*321C= (n.*321C=) c.301C= (p.Arg101=) c.397C= (p.Arg133=) c.376C= (p.Arg126=) c.214C= (p.Arg72=) n.647C= n.1630C= n.260C= n.317C= c.418C= (p.Arg140=) | dbSNP |