Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.613208T>C | CA5783544 | IRF7 | c.1148A>G (p.Gln383Arg) c.*514A>G (n.*514A>G) c.1235A>G (p.Gln412Arg) c.1185A>G (n.1185A>G) c.1274A>G (p.Gln425Arg) c.1187A>G (p.Gln396Arg) c.917A>G (p.Gln306Arg) n.338-76A>G n.384A>G c.*361A>G (n.*361A>G) c.*599A>G (n.*599A>G) c.1271A>G (p.Gln424Arg) c.1232A>G (p.Gln411Arg) c.356A>G (p.Gln119Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.613208T= | CA1947181180 | IRF7 | c.1148A= (p.Gln383=) c.*514A= (n.*514A=) c.1235A= (p.Gln412=) c.1185A= (n.1185A=) c.1274A= (p.Gln425=) c.1187A= (p.Gln396=) c.917A= (p.Gln306=) n.338-76A= n.384A= c.*361A= (n.*361A=) c.*599A= (n.*599A=) c.1271A= (p.Gln424=) c.1232A= (p.Gln411=) c.356A= (p.Gln119=) | dbSNP |