| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.161306843G>A | CA343349420 | MPZ | c.313C>T (p.Pro105Ser) c.-276C>T (n.-276C>T) n.376C>T c.57C>T c.343C>T (p.Pro115Ser) | ClinVar dbSNP |
| 1 | g.161306843G>C | CA31668784 | MPZ | c.313C>G (p.Pro105Ala) c.-276C>G (n.-276C>G) n.376C>G c.57C>G c.343C>G (p.Pro115Ala) | dbSNP |
| 1 | g.161306843G>T | CA257177 | MPZ | c.313C>A (p.Pro105Thr) c.-276C>A (n.-276C>A) n.376C>A c.57C>A c.343C>A (p.Pro115Thr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |