| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.77189372del | CA278650 | MYO7A | c.3532del (p.Gln1178SerfsTer2) c.1373del c.3499del (p.Gln1167SerfsTer2) c.1075del (p.Gln359SerfsTer2) n.59del n.1075del c.3442del (p.Gln1148SerfsTer2) c.3313del (p.Gln1105SerfsTer2) c.3301del (p.Gln1101SerfsTer2) c.3274del (p.Gln1092SerfsTer2) n.3852del n.3854del c.3622del (p.Gln1208SerfsTer2) c.3391del (p.Gln1131SerfsTer2) n.3637del | ClinVar dbSNP gnomAD v4 |
| 11 | g.77189372C= | CA3182674314 | MYO7A | c.3532C= (p.Gln1178=) c.1373C= c.3499C= (p.Gln1167=) c.1075C= (p.Gln359=) n.59C= n.1075C= c.3442C= (p.Gln1148=) c.3313C= (p.Gln1105=) c.3301C= (p.Gln1101=) c.3274C= (p.Gln1092=) n.3852C= n.3854C= c.3622C= (p.Gln1208=) c.3391C= (p.Gln1131=) n.3637C= | dbSNP dbSNP |