| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.18072187C>T | CA306163475 | IL12RB1 | c.946G>A (p.Val316Met) c.1066G>A (p.Val356Met) c.1099G>A (p.Val367Met) c.1087G>A (p.Val363Met) c.1078G>A (p.Val360Met) c.979G>A (p.Val327Met) c.967G>A (p.Val323Met) c.364G>A (p.Val122Met) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.18072187C= | CA2326171086 | IL12RB1 | c.946G= (p.Val316=) c.1066G= (p.Val356=) c.1099G= (p.Val367=) c.1087G= (p.Val363=) c.1078G= (p.Val360=) c.979G= (p.Val327=) c.967G= (p.Val323=) c.364G= (p.Val122=) | dbSNP dbSNP |