| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.15239554G>A | CA398268094 | PMP22 | c.236C>T (p.Ser79Phe) c.225C>T (p.Val75=) c.32C>T (p.Ser11Phe) n.252C>T n.216C>T c.179-8474C>T (n.179-8474C>T) c.338C>T (p.Ser113Phe) c.57C>T (p.Val19=) n.362C>T n.262C>T n.331C>T n.231C>T | ClinVar dbSNP |
| 17 | g.15239554G>C | CA254385 | PMP22 | c.236C>G (p.Ser79Cys) c.225C>G (p.Val75=) c.32C>G (p.Ser11Cys) n.252C>G n.216C>G c.179-8474C>G (n.179-8474C>G) c.338C>G (p.Ser113Cys) c.57C>G (p.Val19=) n.362C>G n.262C>G n.331C>G n.231C>G | ClinVar dbSNP |