| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.18135756C>T | CA8423927 | MYO15A | c.4528C>T (p.Gln1510Ter) c.4522C>T (p.Gln1508Ter) n.5181C>T c.4531C>T (p.Gln1511Ter) n.5220C>T | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
| 17 | g.18135756C= | CA2250845801 | MYO15A | c.4528C= (p.Gln1510=) c.4522C= (p.Gln1508=) n.5181C= c.4531C= (p.Gln1511=) n.5220C= | dbSNP |