| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.18145929A>T | CA254014 | MYO15A | c.6331A>T (p.Asn2111Tyr) c.6271A>T (p.Asn2091Tyr) c.6325A>T (p.Asn2109Tyr) n.6930A>T c.6334A>T (p.Asn2112Tyr) c.6213+1337A>T (n.6213+1337A>T) | ClinVar dbSNP |
| 17 | g.18145929A= | CA2250850316 | MYO15A | c.6331A= (p.Asn2111=) c.6271A= (p.Asn2091=) c.6325A= (p.Asn2109=) n.6930A= c.6334A= (p.Asn2112=) c.6213+1337A= (n.6213+1337A=) | dbSNP |