| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.85911292G>A | CA16043301 | CHM | c.1213C>T (p.Gln405Ter) n.127-48198C>T c.1150C>T (p.Gln384Ter) c.769C>T (p.Gln257Ter) | ClinVar dbSNP gnomAD v4 |
| X | g.85911292G>C | CA413790293 | CHM | c.1213C>G (p.Gln405Glu) n.127-48198C>G c.1150C>G (p.Gln384Glu) c.769C>G (p.Gln257Glu) | dbSNP |