| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.25144799T>C | CA114252 | SEPSECS | c.1001A>G (p.Tyr334Cys) n.2217A>G n.1293A>G n.2142A>G c.1256A>G (p.Tyr419Cys) c.*799A>G (n.*799A>G) c.283A>G n.301A>G c.*702A>G (n.*702A>G) c.764A>G (p.Tyr255Cys) c.821A>G (p.Tyr274Cys) c.998A>G (p.Tyr333Cys) c.968A>G (p.Tyr323Cys) c.578A>G (p.Tyr193Cys) | ClinVar dbSNP gnomAD v4 |
| 4 | g.25144799T= | CA1445223236 | SEPSECS | c.1001A= (p.Tyr334=) n.2217A= n.1293A= n.2142A= c.1256A= (p.Tyr419=) c.*799A= (n.*799A=) c.283A= n.301A= c.*702A= (n.*702A=) c.764A= (p.Tyr255=) c.821A= (p.Tyr274=) c.998A= (p.Tyr333=) c.968A= (p.Tyr323=) c.578A= (p.Tyr193=) | dbSNP |