| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.18145938G>A | CA8424575 | MYO15A | c.6340G>A (p.Val2114Met) c.6280G>A (p.Val2094Met) c.6334G>A (p.Val2112Met) n.6939G>A c.6343G>A (p.Val2115Met) c.6213+1346G>A (n.6213+1346G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.18145938G= | CA2250850322 | MYO15A | c.6340G= (p.Val2114=) c.6280G= (p.Val2094=) c.6334G= (p.Val2112=) n.6939G= c.6343G= (p.Val2115=) c.6213+1346G= (n.6213+1346G=) | dbSNP |