| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.161306763G>T | CA123803 | MPZ | c.367+26C>A (n.367+26C>A) c.393C>A (p.Asn131Lys) c.-196C>A (n.-196C>A) n.456C>A c.111+26C>A c.423C>A (p.Asn141Lys) | ClinVar dbSNP |
| 1 | g.161306763G= | CA1141581155 | MPZ | c.367+26C= (n.367+26C=) c.393C= (p.Asn131=) c.-196C= (n.-196C=) n.456C= c.111+26C= c.423C= (p.Asn141=) | dbSNP |