| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.79025582G>T | CA364638305 | PHIP | c.878C>A (p.Ser293Tyr) c.800C>A (p.Ser267Tyr) c.860C>A (p.Ser287Tyr) c.*671C>A (n.*671C>A) c.344C>A (p.Ser115Tyr) n.1086C>A c.-870C>A (n.-870C>A) | ClinVar dbSNP |
| 6 | g.79025582G= | CA1640411178 | PHIP | c.878C= (p.Ser293=) c.800C= (p.Ser267=) c.860C= (p.Ser287=) c.*671C= (n.*671C=) c.344C= (p.Ser115=) n.1086C= c.-870C= (n.-870C=) | dbSNP |