| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.18141104G>T | CA254022 | MYO15A | c.5492G>T (p.Gly1831Val) n.503G>T c.5486G>T (p.Gly1829Val) n.6145G>T c.5495G>T (p.Gly1832Val) n.6184G>T | ClinVar dbSNP |
| 17 | g.18141104G= | CA2250848254 | MYO15A | c.5492G= (p.Gly1831=) n.503G= c.5486G= (p.Gly1829=) n.6145G= c.5495G= (p.Gly1832=) n.6184G= | dbSNP |