| 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 |
| 1 | g.161306864G>C | CA343349614 | MPZ | c.292C>G (p.Arg98Gly) c.-297C>G (n.-297C>G) n.355C>G c.36C>G c.322C>G (p.Arg108Gly) | dbSNP |
| 1 | g.161306864G= | CA1141581144 | MPZ | c.292C= (p.Arg98=) c.-297C= (n.-297C=) n.355C= c.36C= c.322C= (p.Arg108=) | dbSNP |