| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.55961319T>C | CA237592555 | PMEL | c.332A>G (p.Asn111Ser) c.187+303A>G (n.187+303A>G) n.288A>G c.341A>G (p.Asn114Ser) n.342A>G c.221A>G (p.Asn74Ser) c.77-2712A>G (n.77-2712A>G) n.363A>G | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 12 | g.55961319T>G | CA6620268 | PMEL | c.332A>C (p.Asn111Thr) c.187+303A>C (n.187+303A>C) n.288A>C c.341A>C (p.Asn114Thr) n.342A>C c.221A>C (p.Asn74Thr) c.77-2712A>C (n.77-2712A>C) n.363A>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |