| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.18127166G>A | CA16620345 | MYO15A | c.4032+1G>A (n.4032+1G>A) n.4691+1G>A c.4033G>A (p.Val1345Met) n.4730+1G>A | ClinVar dbSNP gnomAD v4 |
| 17 | g.18127166G= | CA2250785736 | MYO15A | c.4032+1G= (n.4032+1G=) n.4691+1G= c.4033G= (p.Val1345=) n.4730+1G= | dbSNP |