Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.30304676A>C | CA255637 | NR0B1 | c.1316T>G (p.Ile439Ser) | ClinVar dbSNP |
X | g.30304676A= | CA2422039190 | NR0B1 | c.1316T= (p.Ile439=) | dbSNP |
X | g.30304676A>G | CA412544476 | NR0B1 | c.1316T>C (p.Ile439Thr) | dbSNP gnomAD v4 |