Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.30308516T>G | CA16609844 | NR0B1 | c.848A>C (p.Gln283Pro) | ClinVar dbSNP |
X | g.30308516T= | CA2422040479 | NR0B1 | c.848A= (p.Gln283=) | dbSNP |
X | g.30308516T>C | CA412547608 | NR0B1 | c.848A>G (p.Gln283Arg) | dbSNP gnomAD v4 |