| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.161306882C>T | CA351456 | MPZ | c.274G>A (p.Val92Met) c.-315G>A (n.-315G>A) n.337G>A c.18G>A c.304G>A (p.Val102Met) | ClinVar dbSNP |
| 1 | g.161306882C= | CA1143538437 | MPZ | c.274G= (p.Val92=) c.-315G= (n.-315G=) n.337G= c.18G= c.304G= (p.Val102=) | dbSNP |
| 1 | g.161306882C>G | CA343349756 | MPZ | c.274G>C (p.Val92Leu) c.-315G>C (n.-315G>C) n.337G>C c.18G>C c.304G>C (p.Val102Leu) | dbSNP |