| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.110263964G>A | CA256734 | RDX | c.317C>T c.463C>T (p.Gln155Ter) c.*451C>T (n.*451C>T) c.-83+15717C>T (n.-83+15717C>T) c.97-5775C>T (n.97-5775C>T) c.367C>T (p.Gln123Ter) c.430C>T (p.Gln144Ter) c.-81C>T (n.-81C>T) c.60-5775C>T (n.60-5775C>T) | ClinVar dbSNP |
| 11 | g.110263964G>C | CA382868376 | RDX | c.317C>G c.463C>G (p.Gln155Glu) c.*451C>G (n.*451C>G) c.-83+15717C>G (n.-83+15717C>G) c.97-5775C>G (n.97-5775C>G) c.367C>G (p.Gln123Glu) c.430C>G (p.Gln144Glu) c.-81C>G (n.-81C>G) c.60-5775C>G (n.60-5775C>G) | dbSNP gnomAD v4 |
| 11 | g.110263964G= | CA1999729356 | RDX | c.317C= c.463C= (p.Gln155=) c.*451C= (n.*451C=) c.-83+15717C= (n.-83+15717C=) c.97-5775C= (n.97-5775C=) c.367C= (p.Gln123=) c.430C= (p.Gln144=) c.-81C= (n.-81C=) c.60-5775C= (n.60-5775C=) | dbSNP |