| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.18145935A>T | CA254013 | MYO15A | c.6337A>T (p.Ile2113Phe) c.6277A>T (p.Ile2093Phe) c.6331A>T (p.Ile2111Phe) n.6936A>T c.6340A>T (p.Ile2114Phe) c.6213+1343A>T (n.6213+1343A>T) | ClinVar dbSNP |
| 17 | g.18145935A>G | CA398606569 | MYO15A | c.6337A>G (p.Ile2113Val) c.6277A>G (p.Ile2093Val) c.6331A>G (p.Ile2111Val) n.6936A>G c.6340A>G (p.Ile2114Val) c.6213+1343A>G (n.6213+1343A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |