| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.85894201G>A | CA517493603 | CHM | c.1497C>T (p.Cys499=) n.127-31107C>T c.1434C>T (p.Cys478=) c.1053C>T (p.Cys351=) | ClinVar dbSNP gnomAD v4 |
| X | g.85894201G>T | CA255740 | CHM | c.1497C>A (p.Cys499Ter) n.127-31107C>A c.1434C>A (p.Cys478Ter) c.1053C>A (p.Cys351Ter) | ClinVar dbSNP |
| X | g.85894201G= | CA2442456214 | CHM | c.1497C= (p.Cys499=) n.127-31107C= c.1434C= (p.Cys478=) c.1053C= (p.Cys351=) | dbSNP |