| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.161306427G>C | CA351454 | MPZ | c.405C>G (p.Ile135Met) c.486C>G (p.Ile162Met) c.-103C>G (n.-103C>G) n.549C>G c.149C>G c.516C>G (p.Ile172Met) | ClinVar dbSNP |
| 1 | g.161306427G>T | CA421404697 | MPZ | c.405C>A (p.Ile135=) c.486C>A (p.Ile162=) c.-103C>A (n.-103C>A) n.549C>A c.149C>A c.516C>A (p.Ile172=) | dbSNP gnomAD v3 gnomAD v4 |