| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.18083462G>A | CA119239 | IL12RB1 | c.94C>T (p.Gln32Ter) n.201C>T c.214C>T (p.Gln72Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.18083462G= | CA2326176470 | IL12RB1 | c.94C= (p.Gln32=) n.201C= c.214C= (p.Gln72=) | dbSNP |
| 19 | g.18083462G>C | CA404790541 | IL12RB1 | c.94C>G (p.Gln32Glu) n.201C>G c.214C>G (p.Gln72Glu) | dbSNP |