| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.18069641A>G | CA9304962 | IL12RB1 | c.1094T>C (p.Met365Thr) c.1214T>C (p.Met405Thr) c.1247T>C (p.Met416Thr) c.1235T>C (p.Met412Thr) c.1226T>C (p.Met409Thr) c.1127T>C (p.Met376Thr) c.1115T>C (p.Met372Thr) c.512T>C (p.Met171Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.18069641A= | CA2326169873 | IL12RB1 | c.1094T= (p.Met365=) c.1214T= (p.Met405=) c.1247T= (p.Met416=) c.1235T= (p.Met412=) c.1226T= (p.Met409=) c.1127T= (p.Met376=) c.1115T= (p.Met372=) c.512T= (p.Met171=) | dbSNP |