| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.85894214G>T | CA255733 | CHM | c.1484C>A (p.Ser495Ter) n.127-31120C>A c.1421C>A (p.Ser474Ter) c.1040C>A (p.Ser347Ter) | ClinVar dbSNP |
| X | g.85894214G>C | CA413788468 | CHM | c.1484C>G (p.Ser495Ter) n.127-31120C>G c.1421C>G (p.Ser474Ter) c.1040C>G (p.Ser347Ter) | ClinVar dbSNP |
| X | g.85894214G= | CA2442456219 | CHM | c.1484C= (p.Ser495=) n.127-31120C= c.1421C= (p.Ser474=) c.1040C= (p.Ser347=) | dbSNP |