| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.161306767T>C | CA243183 | MPZ | c.367+22A>G (n.367+22A>G) c.389A>G (p.Lys130Arg) c.-200A>G (n.-200A>G) n.452A>G c.111+22A>G c.419A>G (p.Lys140Arg) | ClinVar dbSNP |
| 1 | g.161306767T= | CA1143538429 | MPZ | c.367+22A= (n.367+22A=) c.389A= (p.Lys130=) c.-200A= (n.-200A=) n.452A= c.111+22A= c.419A= (p.Lys140=) | dbSNP |
| 1 | g.161306767T>A | CA343348794 | MPZ | c.367+22A>T (n.367+22A>T) c.389A>T (p.Lys130Ile) c.-200A>T (n.-200A>T) n.452A>T c.111+22A>T c.419A>T (p.Lys140Ile) | dbSNP |