| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.161307328C>A | CA343911 | MPZ | c.164G>T (p.Ser55Ile) c.-425G>T (n.-425G>T) n.227G>T c.194G>T (p.Ser65Ile) | ClinVar dbSNP |
| 1 | g.161307328C>T | CA31669547 | MPZ | c.164G>A (p.Ser55Asn) c.-425G>A (n.-425G>A) n.227G>A c.194G>A (p.Ser65Asn) | ClinVar dbSNP |
| 1 | g.161307328C= | CA1143538442 | MPZ | c.164G= (p.Ser55=) c.-425G= (n.-425G=) n.227G= c.194G= (p.Ser65=) | dbSNP |