| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.18062272G>A | CA9304751 | IL12RB1 | c.1624C>T (p.Gln542Ter) c.1744C>T (p.Gln582Ter) c.1777C>T (p.Gln593Ter) c.1765C>T (p.Gln589Ter) c.1756C>T (p.Gln586Ter) c.1657C>T (p.Gln553Ter) c.1645C>T (p.Gln549Ter) c.1042C>T (p.Gln348Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.18062272G= | CA2326166232 | IL12RB1 | c.1624C= (p.Gln542=) c.1744C= (p.Gln582=) c.1777C= (p.Gln593=) c.1765C= (p.Gln589=) c.1756C= (p.Gln586=) c.1657C= (p.Gln553=) c.1645C= (p.Gln549=) c.1042C= (p.Gln348=) | dbSNP |