| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.85956181G>A | CA10603639 | CHM | c.1138C>T (p.Gln380Ter) n.126+71310C>T c.1075C>T (p.Gln359Ter) c.694C>T (p.Gln232Ter) | ClinVar dbSNP |
| X | g.85956181G= | CA2442478015 | CHM | c.1138C= (p.Gln380=) n.126+71310C= c.1075C= (p.Gln359=) c.694C= (p.Gln232=) | dbSNP |