| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.161306747C>T | CA257148 | MPZ | c.367+42G>A (n.367+42G>A) c.409G>A (p.Gly137Ser) c.-180G>A (n.-180G>A) n.472G>A c.111+42G>A c.439G>A (p.Gly147Ser) | ClinVar dbSNP gnomAD v4 |
| 1 | g.161306747C= | CA1141581152 | MPZ | c.367+42G= (n.367+42G=) c.409G= (p.Gly137=) c.-180G= (n.-180G=) n.472G= c.111+42G= c.439G= (p.Gly147=) | dbSNP |
| 1 | g.161306747C>G | CA343348585 | MPZ | c.367+42G>C (n.367+42G>C) c.409G>C (p.Gly137Arg) c.-180G>C (n.-180G>C) n.472G>C c.111+42G>C c.439G>C (p.Gly147Arg) | dbSNP |