| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.85958923G>T | CA332654996 | CHM | c.757C>A (p.Arg253=) n.126+68568C>A c.694C>A (p.Arg232=) c.313C>A (p.Arg105=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.85958923G>A | CA10603741 | CHM | c.757C>T (p.Arg253Ter) n.126+68568C>T c.694C>T (p.Arg232Ter) c.313C>T (p.Arg105Ter) | ClinVar dbSNP |