| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.161306789C>T | CA257174 | MPZ | c.367G>A (p.Val123Met) c.367G>A (p.Gly123Ser) c.-222G>A (n.-222G>A) n.430G>A c.111G>A c.397G>A (p.Gly133Ser) | ClinVar dbSNP |
| 1 | g.161306789C>A | CA343349010 | MPZ | c.367G>T (p.Val123Leu) c.367G>T (p.Gly123Cys) c.-222G>T (n.-222G>T) n.430G>T c.111G>T c.397G>T (p.Gly133Cys) | ClinVar dbSNP |
| 1 | g.161306789C= | CA1141581160 | MPZ | c.367G= (p.Val123=) c.367G= (p.Gly123=) c.-222G= (n.-222G=) n.430G= c.111G= c.397G= (p.Gly133=) | dbSNP |