| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.161307259G>C | CA16609896 | MPZ | c.233C>G (p.Ser78Trp) c.-356C>G (n.-356C>G) n.296C>G c.263C>G (p.Ser88Trp) | ClinVar dbSNP |
| 1 | g.161307259G>A | CA123805 | MPZ | c.233C>T (p.Ser78Leu) c.-356C>T (n.-356C>T) n.296C>T c.263C>T (p.Ser88Leu) | ClinVar dbSNP gnomAD v4 |
| 1 | g.161307259G= | CA1141581153 | MPZ | c.233C= (p.Ser78=) c.-356C= (n.-356C=) n.296C= c.263C= (p.Ser88=) | dbSNP |