| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.161306886G>C | CA343349785 | MPZ | c.270C>G (p.Asp90Glu) c.-319C>G (n.-319C>G) n.333C>G c.14C>G c.300C>G (p.Asp100Glu) | ClinVar dbSNP |
| 1 | g.161306886G>T | CA257144 | MPZ | c.270C>A (p.Asp90Glu) c.-319C>A (n.-319C>A) n.333C>A c.14C>A c.300C>A (p.Asp100Glu) | ClinVar dbSNP |
| 1 | g.161306886G>A | CA1210189 | MPZ | c.270C>T (p.Asp90=) c.-319C>T (n.-319C>T) n.333C>T c.14C>T c.300C>T (p.Asp100=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |