| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.119811572G>T | CA2557835 | NR1I2 | c.365G>T (p.Arg122Leu) c.482G>T (p.Arg161Leu) n.497G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.119811572G>A | CA2557834 | NR1I2 | c.365G>A (p.Arg122Gln) c.482G>A (p.Arg161Gln) n.497G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.119811572G= | CA1396725527 | NR1I2 | c.365G= (p.Arg122=) c.482G= (p.Arg161=) n.497G= | dbSNP |