| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.18148784G>A | CA261767 | MYO15A | c.6788G>A (p.Gly2263Asp) n.300G>A c.6632-432G>A (n.6632-432G>A) c.6782G>A (p.Gly2261Asp) n.7291-432G>A n.435-1178C>T n.254-1178C>T c.6728G>A (p.Gly2243Asp) c.6791G>A (p.Gly2264Asp) n.378-1178C>T | ClinVar dbSNP gnomAD v4 |
| 17 | g.18148784G= | CA2250851465 | MYO15A | c.6788G= (p.Gly2263=) n.300G= c.6632-432G= (n.6632-432G=) c.6782G= (p.Gly2261=) n.7291-432G= n.435-1178C= n.254-1178C= c.6728G= (p.Gly2243=) c.6791G= (p.Gly2264=) n.378-1178C= | dbSNP |