| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.15231047G>A | CA119616 | PMP22 | c.353C>T (p.Thr118Met) c.*62C>T (n.*62C>T) c.342C>T (p.His114=) c.149C>T (p.Thr50Met) c.*208C>T (n.*208C>T) n.369C>T n.333C>T c.*22C>T (n.*22C>T) n.346C>T c.212C>T (p.Thr71Met) c.455C>T (p.Thr152Met) c.174C>T (p.His58=) n.479C>T n.379C>T n.448C>T n.348C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.15231047G>C | CA398739755 | PMP22 | c.353C>G (p.Thr118Arg) c.*62C>G (n.*62C>G) c.342C>G (p.His114Gln) c.149C>G (p.Thr50Arg) c.*208C>G (n.*208C>G) n.369C>G n.333C>G c.*22C>G (n.*22C>G) n.346C>G c.212C>G (p.Thr71Arg) c.455C>G (p.Thr152Arg) c.174C>G (p.His58Gln) n.479C>G n.379C>G n.448C>G n.348C>G | dbSNP |
| 17 | g.15231047G= | CA2249498288 | PMP22 | c.353C= (p.Thr118=) c.*62C= (n.*62C=) c.342C= (p.His114=) c.149C= (p.Thr50=) c.*208C= (n.*208C=) n.369C= n.333C= c.*22C= (n.*22C=) n.346C= c.212C= (p.Thr71=) c.455C= (p.Thr152=) c.174C= (p.His58=) n.479C= n.379C= n.448C= n.348C= | dbSNP |