| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.77190108G>A | CA278657 | MYO7A | c.3719G>A (p.Arg1240Gln) c.1560G>A c.3686G>A (p.Arg1229Gln) c.1262G>A (p.Arg421Gln) n.246G>A n.1262G>A c.3629G>A (p.Arg1210Gln) c.3500G>A (p.Arg1167Gln) c.3488G>A (p.Arg1163Gln) c.3461G>A (p.Arg1154Gln) n.4039G>A n.4041G>A c.3809G>A (p.Arg1270Gln) c.3578G>A (p.Arg1193Gln) n.3824G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.77190108G= | CA1984123206 | MYO7A | c.3719G= (p.Arg1240=) c.1560G= c.3686G= (p.Arg1229=) c.1262G= (p.Arg421=) n.246G= n.1262G= c.3629G= (p.Arg1210=) c.3500G= (p.Arg1167=) c.3488G= (p.Arg1163=) c.3461G= (p.Arg1154=) n.4039G= n.4041G= c.3809G= (p.Arg1270=) c.3578G= (p.Arg1193=) n.3824G= | dbSNP |