| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.161307306G>C | CA257170 | MPZ | c.186C>G (p.Ile62Met) c.-403C>G (n.-403C>G) n.249C>G c.216C>G (p.Ile72Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.161307306G>A | CA421405674 | MPZ | c.186C>T (p.Ile62=) c.-403C>T (n.-403C>T) n.249C>T c.216C>T (p.Ile72=) | dbSNP gnomAD v4 |
| 1 | g.161307306G= | CA1141581159 | MPZ | c.186C= (p.Ile62=) c.-403C= (n.-403C=) n.249C= c.216C= (p.Ile72=) | dbSNP |