| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.81444935A>T | CA10584083 | PMP2 | c.128T>A (p.Ile43Asn) c.74-334T>A (n.74-334T>A) | ClinVar dbSNP |
| 8 | g.81444935A= | CA1797419116 | PMP2 | c.128T= (p.Ile43=) c.74-334T= (n.74-334T=) | dbSNP |
| 8 | g.81444935A>C | CA371518216 | PMP2 | c.128T>G (p.Ile43Ser) c.74-334T>G (n.74-334T>G) | ClinVar dbSNP |