| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.55957193C>G | CA6620070 | PMEL | c.1110G>C (p.Glu370Asp) c.948G>C (p.Glu316Asp) c.663G>C (p.Glu221Asp) c.772G>C n.150G>C c.358+1280G>C (n.358+1280G>C) c.852G>C (p.Glu284Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.55957193C= | CA2038181296 | PMEL | c.1110G= (p.Glu370=) c.948G= (p.Glu316=) c.663G= (p.Glu221=) c.772G= n.150G= c.358+1280G= (n.358+1280G=) c.852G= (p.Glu284=) | dbSNP |
| 12 | g.55957193C>T | CA480364993 | PMEL | c.1110G>A (p.Glu370=) c.948G>A (p.Glu316=) c.663G>A (p.Glu221=) c.772G>A n.150G>A c.358+1280G>A (n.358+1280G>A) c.852G>A (p.Glu284=) | dbSNP gnomAD v4 |