| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.74046742T>A | CA320936 | ELN | c.618T>A (p.Tyr206Ter) c.552T>A (p.Tyr184Ter) c.633T>A (p.Tyr211Ter) c.309T>A (p.Tyr103Ter) c.588T>A (p.Tyr196Ter) c.603T>A (p.Tyr201Ter) c.516T>A (p.Tyr172Ter) c.372T>A (p.Tyr124Ter) c.243T>A (p.Tyr81Ter) c.504T>A (p.Tyr168Ter) n.502T>A n.84T>A c.486T>A (p.Tyr162Ter) c.582T>A (p.Tyr194Ter) c.597T>A (p.Tyr199Ter) c.567T>A (p.Tyr189Ter) | ClinVar dbSNP |
| 7 | g.74046742T= | CA1717340898 | ELN | c.618T= (p.Tyr206=) c.552T= (p.Tyr184=) c.633T= (p.Tyr211=) c.309T= (p.Tyr103=) c.588T= (p.Tyr196=) c.603T= (p.Tyr201=) c.516T= (p.Tyr172=) c.372T= (p.Tyr124=) c.243T= (p.Tyr81=) c.504T= (p.Tyr168=) n.502T= n.84T= c.486T= (p.Tyr162=) c.582T= (p.Tyr194=) c.597T= (p.Tyr199=) c.567T= (p.Tyr189=) | dbSNP |