| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.77181589G>T | CA278647 | MYO7A | c.2904G>T (p.Glu968Asp) c.969G>T (p.Glu323Asp) c.745G>T c.2871G>T (p.Glu957Asp) c.447G>T (p.Glu149Asp) n.447G>T c.2685G>T (p.Glu895Asp) c.2673G>T (p.Glu891Asp) c.2646G>T (p.Glu882Asp) n.3224G>T n.3226G>T c.2994G>T (p.Glu998Asp) c.2763G>T (p.Glu921Asp) n.3009G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.77181589G>A | CA6197949 | MYO7A | c.2904G>A (p.Glu968=) c.969G>A (p.Glu323=) c.745G>A c.2871G>A (p.Glu957=) c.447G>A (p.Glu149=) n.447G>A c.2685G>A (p.Glu895=) c.2673G>A (p.Glu891=) c.2646G>A (p.Glu882=) n.3224G>A n.3226G>A c.2994G>A (p.Glu998=) c.2763G>A (p.Glu921=) n.3009G>A | ClinVar dbSNP ExAC gnomAD v2 |