| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.27364507A>G | CA116653 | EIF2B4,GTF3C2-AS2 | c.1465T>C (p.Tyr489His) c.*731T>C (n.*731T>C) c.1462T>C (p.Tyr488His) c.1525T>C (p.Tyr509His) n.458T>C c.1528T>C (p.Tyr510His) c.1456T>C (p.Tyr486His) c.1420T>C (p.Tyr474His) c.1417T>C (p.Tyr473His) c.847T>C (p.Tyr283His) n.1772-2917A>G c.1372T>C (p.Tyr458His) c.880T>C (p.Tyr294His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.27364507A= | CA1240242808 | EIF2B4,GTF3C2-AS2 | c.1465T= (p.Tyr489=) c.*731T= (n.*731T=) c.1462T= (p.Tyr488=) c.1525T= (p.Tyr509=) n.458T= c.1528T= (p.Tyr510=) c.1456T= (p.Tyr486=) c.1420T= (p.Tyr474=) c.1417T= (p.Tyr473=) c.847T= (p.Tyr283=) n.1772-2917A= c.1372T= (p.Tyr458=) c.880T= (p.Tyr294=) | dbSNP |