| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.161306863C>A | CA343349605 | MPZ | c.293G>T (p.Arg98Leu) c.-296G>T (n.-296G>T) n.356G>T c.37G>T c.323G>T (p.Arg108Leu) | ClinVar dbSNP |
| 1 | g.161306863C>T | CA257154 | MPZ | c.293G>A (p.Arg98His) c.-296G>A (n.-296G>A) n.356G>A c.37G>A c.323G>A (p.Arg108His) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.161306863C>G | CA257150 | MPZ | c.293G>C (p.Arg98Pro) c.-296G>C (n.-296G>C) n.356G>C c.37G>C c.323G>C (p.Arg108Pro) | ClinVar dbSNP |