Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.161306864G>A | CA257152 | MPZ | c.292C>T (p.Arg98Cys) c.-297C>T (n.-297C>T) n.355C>T c.36C>T c.322C>T (p.Arg108Cys) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
1 | g.161306864G>T | CA343349616 | MPZ | c.292C>A (p.Arg98Ser) c.-297C>A (n.-297C>A) n.355C>A c.36C>A c.322C>A (p.Arg108Ser) | ClinVar dbSNP gnomAD v4 |