| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.15231073G>A | CA288864496 | PMP22 | c.327C>T (p.Cys109=) c.*36C>T (n.*36C>T) c.316C>T (p.Arg106Cys) c.123C>T (p.Cys41=) c.*182C>T (n.*182C>T) n.343C>T n.307C>T c.494C>T (p.Ala165Val) n.320C>T c.186C>T (p.Cys62=) c.429C>T (p.Cys143=) c.148C>T (p.Arg50Cys) n.453C>T n.353C>T n.422C>T n.322C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 17 | g.15231073G>T | CA279101 | PMP22 | c.327C>A (p.Cys109Ter) c.*36C>A (n.*36C>A) c.316C>A (p.Arg106Ser) c.123C>A (p.Cys41Ter) c.*182C>A (n.*182C>A) n.343C>A n.307C>A c.494C>A (p.Ala165Glu) n.320C>A c.186C>A (p.Cys62Ter) c.429C>A (p.Cys143Ter) c.148C>A (p.Arg50Ser) n.453C>A n.353C>A n.422C>A n.322C>A | ClinVar dbSNP |
| 17 | g.15231073G>C | CA398739825 | PMP22 | c.327C>G (p.Cys109Trp) c.*36C>G (n.*36C>G) c.316C>G (p.Arg106Gly) c.123C>G (p.Cys41Trp) c.*182C>G (n.*182C>G) n.343C>G n.307C>G c.494C>G (p.Ala165Gly) n.320C>G c.186C>G (p.Cys62Trp) c.429C>G (p.Cys143Trp) c.148C>G (p.Arg50Gly) n.453C>G n.353C>G n.422C>G n.322C>G | dbSNP gnomAD v4 |
| 17 | g.15231073G= | CA2249498353 | PMP22 | c.327C= (p.Cys109=) c.*36C= (n.*36C=) c.316C= (p.Arg106=) c.123C= (p.Cys41=) c.*182C= (n.*182C=) n.343C= n.307C= c.494C= (p.Ala165=) n.320C= c.186C= (p.Cys62=) c.429C= (p.Cys143=) c.148C= (p.Arg50=) n.453C= n.353C= n.422C= n.322C= | dbSNP |