| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.161305974G>A | CA343918 | MPZ | c.568C>T (p.Pro190Ser) c.649C>T (p.Pro217Ser) c.61C>T (p.Pro21Ser) n.712C>T n.239C>T n.87C>T c.312C>T c.675+134C>T (n.675+134C>T) | ClinVar dbSNP |
| 1 | g.161305974G>C | CA343344462 | MPZ | c.568C>G (p.Pro190Ala) c.649C>G (p.Pro217Ala) c.61C>G (p.Pro21Ala) n.712C>G n.239C>G n.87C>G c.312C>G c.675+134C>G (n.675+134C>G) | ClinVar dbSNP |