Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.26913429C>T | CA339190156 | NR0B2,NUDC | c.512G>A (p.Gly171Glu) c.93+2194C>T (n.93+2194C>T) | dbSNP |
1 | g.26913429C>G | CA709629 | NR0B2,NUDC | c.512G>C (p.Gly171Ala) c.93+2194C>G (n.93+2194C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.26913429C>A | CA339190151 | NR0B2,NUDC | c.512G>T (p.Gly171Val) c.93+2194C>A (n.93+2194C>A) | dbSNP gnomAD v4 |