| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.119811650G>A | CA2557858 | NR1I2 | c.443G>A (p.Arg148Gln) c.560G>A (p.Arg187Gln) n.575G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.119811650G>C | CA354058289 | NR1I2 | c.443G>C (p.Arg148Pro) c.560G>C (p.Arg187Pro) n.575G>C | dbSNP |
| 3 | g.119811650G= | CA1396725563 | NR1I2 | c.443G= (p.Arg148=) c.560G= (p.Arg187=) n.575G= | dbSNP |