| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.110231889C>T | CA256733 | RDX | c.375G>A c.1732G>A (p.Asp578Asn) c.1587+1348G>A (n.1587+1348G>A) n.961G>A c.691G>A (p.Asp231Asn) n.742G>A c.*1202G>A (n.*1202G>A) c.520G>A (p.Asp174Asn) n.847G>A n.432G>A c.1324G>A (p.Asp442Asn) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.110231889C= | CA1999720898 | RDX | c.375G= c.1732G= (p.Asp578=) c.1587+1348G= (n.1587+1348G=) n.961G= c.691G= (p.Asp231=) n.742G= c.*1202G= (n.*1202G=) c.520G= (p.Asp174=) n.847G= n.432G= c.1324G= (p.Asp442=) | dbSNP |