| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.55957284G>A | CA6620086 | PMEL | c.1019C>T (p.Ala340Val) c.872C>T (p.Ala291Val) c.857C>T (p.Ala286Val) c.572C>T (p.Ala191Val) c.681C>T n.59C>T c.358+1189C>T (n.358+1189C>T) c.761C>T (p.Ala254Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 12 | g.55957284G>T | CA6620087 | PMEL | c.1019C>A (p.Ala340Glu) c.872C>A (p.Ala291Glu) c.857C>A (p.Ala286Glu) c.572C>A (p.Ala191Glu) c.681C>A n.59C>A c.358+1189C>A (n.358+1189C>A) c.761C>A (p.Ala254Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |