| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.119815812C>T | CA2558103 | NR1I2 | c.1141C>T (p.Arg381Trp) c.1030C>T (p.Arg344Trp) c.1258C>T (p.Arg420Trp) n.1273C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.119815812C>A | CA435220521 | NR1I2 | c.1141C>A (p.Arg381=) c.1030C>A (p.Arg344=) c.1258C>A (p.Arg420=) n.1273C>A | dbSNP gnomAD v2 gnomAD v4 |