| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.18135747C>T | CA8423922 | MYO15A | c.4519C>T (p.Arg1507Ter) c.4513C>T (p.Arg1505Ter) n.5172C>T c.4522C>T (p.Arg1508Ter) n.5211C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.18135747C>G | CA8423923 | MYO15A | c.4519C>G (p.Arg1507Gly) c.4513C>G (p.Arg1505Gly) n.5172C>G c.4522C>G (p.Arg1508Gly) n.5211C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |