| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.18132486G>A | CA16609582 | MYO15A | c.4240G>A (p.Glu1414Lys) c.4234G>A (p.Glu1412Lys) n.4893G>A c.4243G>A (p.Glu1415Lys) n.4932G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 17 | g.18132486G>T | CA398593245 | MYO15A | c.4240G>T (p.Glu1414Ter) c.4234G>T (p.Glu1412Ter) n.4893G>T c.4243G>T (p.Glu1415Ter) n.4932G>T | dbSNP |