| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.161306810T>A | CA343349233 | MPZ | c.346A>T (p.Asn116Tyr) c.-243A>T (n.-243A>T) n.409A>T c.90A>T c.376A>T (p.Asn126Tyr) | ClinVar dbSNP |
| 1 | g.161306810T>G | CA351446 | MPZ | c.346A>C (p.Asn116His) c.-243A>C (n.-243A>C) n.409A>C c.90A>C c.376A>C (p.Asn126His) | ClinVar dbSNP |
| 1 | g.161306810T= | CA1143538432 | MPZ | c.346A= (p.Asn116=) c.-243A= (n.-243A=) n.409A= c.90A= c.376A= (p.Asn126=) | dbSNP |