NOTICE - API Response Change: Users of the API please note that
clingenPreferredTitle is now communityStandardTitle
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.57614475G>A | CA116519 | SERPING1 | c.1397G>A (p.Arg466His) c.*294G>A (p.=) c.*1173G>A (p.=) c.1193G>A (p.Arg398His) n.2479G>A c.*817G>A (p.=) c.1343G>A (p.Arg448His) n.1650G>A c.*951G>A (p.=) c.*337G>A (p.=) c.1286G>A (p.Arg429His) c.1412G>A (p.Arg471His) c.1241G>A (p.Arg414His) c.1526G>A (p.Arg509His) n.598G>A (p.=) n.854G>A n.898G>A (p.=) c.*422G>A (p.=) n.528G>A (p.=) | ClinVar dbSNP |
| 11 | g.57614475G>T | CA219255 | SERPING1 | c.1397G>T (p.Arg466Leu) c.*294G>T (p.=) c.*1173G>T (p.=) c.1193G>T (p.Arg398Leu) n.2479G>T c.*817G>T (p.=) c.1343G>T (p.Arg448Leu) n.1650G>T c.*951G>T (p.=) c.*337G>T (p.=) c.1286G>T (p.Arg429Leu) c.1412G>T (p.Arg471Leu) c.1241G>T (p.Arg414Leu) c.1526G>T (p.Arg509Leu) n.598G>T (p.=) n.854G>T n.898G>T (p.=) c.*422G>T (p.=) n.528G>T (p.=) | ClinVar dbSNP |