| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.613094G>A | CA199640 | IRF7 | c.1174C>T (p.Gln392Ter) c.*540C>T (n.*540C>T) c.1261C>T (p.Gln421Ter) c.1211C>T (n.1211C>T) c.1300C>T (p.Gln434Ter) c.1213C>T (p.Gln405Ter) c.943C>T (p.Gln315Ter) n.376C>T n.498C>T c.*387C>T (n.*387C>T) c.*625C>T (n.*625C>T) c.1297C>T (p.Gln433Ter) c.1258C>T (p.Gln420Ter) c.382C>T (p.Gln128Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.613094G= | CA1947180774 | IRF7 | c.1174C= (p.Gln392=) c.*540C= (n.*540C=) c.1261C= (p.Gln421=) c.1211C= (n.1211C=) c.1300C= (p.Gln434=) c.1213C= (p.Gln405=) c.943C= (p.Gln315=) n.376C= n.498C= c.*387C= (n.*387C=) c.*625C= (n.*625C=) c.1297C= (p.Gln433=) c.1258C= (p.Gln420=) c.382C= (p.Gln128=) | dbSNP |