Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.30308564C>G | CA255621 | NR0B1 | c.800G>C (p.Arg267Pro) | ClinVar dbSNP |
X | g.30308564C>T | CA412547830 | NR0B1 | c.800G>A (p.Arg267His) | dbSNP gnomAD v2 gnomAD v4 |
X | g.30308564C>A | CA412547828 | NR0B1 | c.800G>T (p.Arg267Leu) | dbSNP gnomAD v4 |
X | g.30308564C= | CA2422039885 | NR0B1 | c.800G= (p.Arg267=) | dbSNP |