| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.613215A>C | CA199638 | IRF7 | c.1141T>G (p.Phe381Val) c.*507T>G (n.*507T>G) c.1228T>G (p.Phe410Val) c.1178T>G (n.1178T>G) c.1267T>G (p.Phe423Val) c.1180T>G (p.Phe394Val) c.910T>G (p.Phe304Val) n.338-83T>G n.377T>G c.*354T>G (n.*354T>G) c.*592T>G (n.*592T>G) c.1264T>G (p.Phe422Val) c.1225T>G (p.Phe409Val) c.349T>G (p.Phe117Val) | ClinVar dbSNP gnomAD v4 |
| 11 | g.613215A= | CA1947181197 | IRF7 | c.1141T= (p.Phe381=) c.*507T= (n.*507T=) c.1228T= (p.Phe410=) c.1178T= (n.1178T=) c.1267T= (p.Phe423=) c.1180T= (p.Phe394=) c.910T= (p.Phe304=) n.338-83T= n.377T= c.*354T= (n.*354T=) c.*592T= (n.*592T=) c.1264T= (p.Phe422=) c.1225T= (p.Phe409=) c.349T= (p.Phe117=) | dbSNP |
| 11 | g.613215A>G | CA378978452 | IRF7 | c.1141T>C (p.Phe381Leu) c.*507T>C (n.*507T>C) c.1228T>C (p.Phe410Leu) c.1178T>C (n.1178T>C) c.1267T>C (p.Phe423Leu) c.1180T>C (p.Phe394Leu) c.910T>C (p.Phe304Leu) n.338-83T>C n.377T>C c.*354T>C (n.*354T>C) c.*592T>C (n.*592T>C) c.1264T>C (p.Phe422Leu) c.1225T>C (p.Phe409Leu) c.349T>C (p.Phe117Leu) | ClinVar dbSNP |