| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.161306774C>G | CA343348857 | MPZ | c.367+15G>C (n.367+15G>C) c.382G>C (p.Asp128His) c.-207G>C (n.-207G>C) n.445G>C c.111+15G>C c.412G>C (p.Asp138His) | ClinVar dbSNP |
| 1 | g.161306774C>A | CA343348854 | MPZ | c.367+15G>T (n.367+15G>T) c.382G>T (p.Asp128Tyr) c.-207G>T (n.-207G>T) n.445G>T c.111+15G>T c.412G>T (p.Asp138Tyr) | ClinVar dbSNP |
| 1 | g.161306774C>T | CA351448 | MPZ | c.367+15G>A (n.367+15G>A) c.382G>A (p.Asp128Asn) c.-207G>A (n.-207G>A) n.445G>A c.111+15G>A c.412G>A (p.Asp138Asn) | ClinVar dbSNP |