| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.18142826C>T | CA8424429 | MYO15A | c.5896C>T (p.Arg1966Ter) c.5890C>T (p.Arg1964Ter) n.6549C>T c.5899C>T (p.Arg1967Ter) n.6588C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.18142826C= | CA2250849009 | MYO15A | c.5896C= (p.Arg1966=) c.5890C= (p.Arg1964=) n.6549C= c.5899C= (p.Arg1967=) n.6588C= | dbSNP |