| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.47268596G>A | CA5973720 | NR1H3 | c.1244G>A (p.Arg415Gln) c.1109G>A (p.Arg370Gln) c.929G>A (p.Arg310Gln) c.1064G>A (p.Arg355Gln) n.458G>A n.1469G>A c.1301G>A (p.Arg434Gln) n.262G>A c.791G>A (p.Arg264Gln) n.1431G>A n.329G>A c.1262G>A (p.Arg421Gln) c.977G>A (p.Arg326Gln) c.842G>A (p.Arg281Gln) c.662G>A (p.Arg221Gln) c.608G>A (p.Arg203Gln) c.1436G>A (p.Arg479Gln) c.1034G>A (p.Arg345Gln) c.1169G>A (p.Arg390Gln) c.800G>A (p.Arg267Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47268596G= | CA1969297130 | NR1H3 | c.1244G= (p.Arg415=) c.1109G= (p.Arg370=) c.929G= (p.Arg310=) c.1064G= (p.Arg355=) n.458G= n.1469G= c.1301G= (p.Arg434=) n.262G= c.791G= (p.Arg264=) n.1431G= n.329G= c.1262G= (p.Arg421=) c.977G= (p.Arg326=) c.842G= (p.Arg281=) c.662G= (p.Arg221=) c.608G= (p.Arg203=) c.1436G= (p.Arg479=) c.1034G= (p.Arg345=) c.1169G= (p.Arg390=) c.800G= (p.Arg267=) | dbSNP |