| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.18076321A>G | CA404782105 | IL12RB1 | c.556T>C (p.Cys186Arg) c.676T>C (p.Cys226Arg) c.688T>C (p.Cys230Arg) c.568T>C (p.Cys190Arg) c.-48T>C (n.-48T>C) | dbSNP gnomAD v4 |
| 19 | g.18076321A>T | CA16608979 | IL12RB1 | c.556T>A (p.Cys186Ser) c.676T>A (p.Cys226Ser) c.688T>A (p.Cys230Ser) c.568T>A (p.Cys190Ser) c.-48T>A (n.-48T>A) | ClinVar dbSNP gnomAD v4 |