| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.57602081C>G | CA116532 | SERPING1 | c.597C>G (p.Tyr199Ter) c.58+3753C>G (n.58+3753C>G) c.98C>G (p.Thr33Ser) n.1679C>G n.584C>G n.656C>G c.612C>G (p.Tyr204Ter) c.441C>G (p.Tyr147Ter) c.699C>G (p.Tyr233Ter) n.37C>G c.348+1906C>G (n.348+1906C>G) | ClinVar dbSNP |
| 11 | g.57602081C>A | CA380696968 | SERPING1 | c.597C>A (p.Tyr199Ter) c.58+3753C>A (n.58+3753C>A) c.98C>A (p.Thr33Asn) n.1679C>A n.584C>A n.656C>A c.612C>A (p.Tyr204Ter) c.441C>A (p.Tyr147Ter) c.699C>A (p.Tyr233Ter) n.37C>A c.348+1906C>A (n.348+1906C>A) | dbSNP COSMIC |
| 11 | g.57602081C= | CA1975525925 | SERPING1 | c.597C= (p.Tyr199=) c.58+3753C= (n.58+3753C=) c.98C= (p.Thr33=) n.1679C= n.584C= n.656C= c.612C= (p.Tyr204=) c.441C= (p.Tyr147=) c.699C= (p.Tyr233=) n.37C= c.348+1906C= (n.348+1906C=) | dbSNP |