| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.18142238C>T | CA8424397 | MYO15A | c.5809C>T (p.Arg1937Cys) c.5803C>T (p.Arg1935Cys) n.6462C>T c.5812C>T (p.Arg1938Cys) n.6501C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 17 | g.18142238C>G | CA398603492 | MYO15A | c.5809C>G (p.Arg1937Gly) c.5803C>G (p.Arg1935Gly) n.6462C>G c.5812C>G (p.Arg1938Gly) n.6501C>G | ClinVar dbSNP |