| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.161306426C>G | CA339741 | MPZ | c.406G>C (p.Gly136Arg) c.487G>C (p.Gly163Arg) c.-102G>C (n.-102G>C) n.550G>C c.150G>C c.517G>C (p.Gly173Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.161306426C>T | CA347390 | MPZ | c.406G>A (p.Gly136Arg) c.487G>A (p.Gly163Arg) c.-102G>A (n.-102G>A) n.550G>A c.150G>A c.517G>A (p.Gly173Arg) | ClinVar dbSNP |