| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.55954295A>G | CA6619815 | PMEL | c.1905T>C (p.Ser635=) c.1926T>C (p.Ser642=) n.484T>C c.792T>C (p.Ser264=) c.1647T>C (p.Ser549=) c.1800T>C (p.Ser600=) c.1779T>C (p.Ser593=) | dbSNP ExAC gnomAD v4 |
| 12 | g.55954295A= | CA2038177587 | PMEL | c.1905T= (p.Ser635=) c.1926T= (p.Ser642=) n.484T= c.792T= (p.Ser264=) c.1647T= (p.Ser549=) c.1800T= (p.Ser600=) c.1779T= (p.Ser593=) | dbSNP |