| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.133532171G>A | CA5767624 | CYP2E1 | c.535G>A (p.Val179Ile) n.596G>A c.124G>A (p.Val42Ile) c.274G>A (p.Val92Ile) n.448+437G>A c.226+437G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.133532171G>T | CA378835214 | CYP2E1 | c.535G>T (p.Val179Phe) n.596G>T c.124G>T (p.Val42Phe) c.274G>T (p.Val92Phe) n.448+437G>T c.226+437G>T | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.133532171G= | CA1946830211 | CYP2E1 | c.535G= (p.Val179=) n.596G= c.124G= (p.Val42=) c.274G= (p.Val92=) n.448+437G= c.226+437G= | dbSNP |