| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.161306722T>G | CA257166 | MPZ | c.367+67A>C (n.367+67A>C) c.434A>C (p.Tyr145Ser) c.-155A>C (n.-155A>C) n.497A>C c.111+67A>C c.464A>C (p.Tyr155Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.161306722T>C | CA343348241 | MPZ | c.367+67A>G (n.367+67A>G) c.434A>G (p.Tyr145Cys) c.-155A>G (n.-155A>G) n.497A>G c.111+67A>G c.464A>G (p.Tyr155Cys) | ClinVar dbSNP |
| 1 | g.161306722T>A | CA343348239 | MPZ | c.367+67A>T (n.367+67A>T) c.434A>T (p.Tyr145Phe) c.-155A>T (n.-155A>T) n.497A>T c.111+67A>T c.464A>T (p.Tyr155Phe) | dbSNP |
| 1 | g.161306722T= | CA1141581150 | MPZ | c.367+67A= (n.367+67A=) c.434A= (p.Tyr145=) c.-155A= (n.-155A=) n.497A= c.111+67A= c.464A= (p.Tyr155=) | dbSNP |