| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.133532169_133532177delinsACGTCATAG | CA1946830194 | CYP2E1 | c.533_541delinsACGTCATAG (p.Asn178=) n.594_602delinsACGTCATAG c.122_130delinsACGTCATAG (p.Asn41=) c.272_280delinsACGTCATAG (p.Asn91=) n.448+435_448+443delinsACGTCATAG c.226+435_226+443delinsACGTCATAG | |
| 10 | g.133532171_133532178del | CA5767622 | CYP2E1 | c.535_542del (p.Val179ArgfsTer9) n.596_603del c.124_131del (p.Val42ArgfsTer9) c.274_281del (p.Val92ArgfsTer9) n.448+437_448+444del c.226+437_226+444del | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 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>C | CA378835211 | CYP2E1 | c.535G>C (p.Val179Leu) n.596G>C c.124G>C (p.Val42Leu) c.274G>C (p.Val92Leu) n.448+437G>C c.226+437G>C | |
| 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= | |
| 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.133532172T>A | CA378835221 | CYP2E1 | c.536T>A (p.Val179Asp) n.597T>A c.125T>A (p.Val42Asp) c.275T>A (p.Val92Asp) n.448+438T>A c.226+438T>A | |
| 10 | g.133532172T>C | CA378835219 | CYP2E1 | c.536T>C (p.Val179Ala) n.597T>C c.125T>C (p.Val42Ala) c.275T>C (p.Val92Ala) n.448+438T>C c.226+438T>C | gnomAD v4 |
| 10 | g.133532172T>G | CA378835217 | CYP2E1 | c.536T>G (p.Val179Gly) n.597T>G c.125T>G (p.Val42Gly) c.275T>G (p.Val92Gly) n.448+438T>G c.226+438T>G | |
| 10 | g.133532173C>A | CA472244936 | CYP2E1 | c.537C>A (p.Val179=) n.598C>A c.126C>A (p.Val42=) c.276C>A (p.Val92=) n.448+439C>A c.226+439C>A | gnomAD v4 |
| 10 | g.133532173C>G | CA472244941 | CYP2E1 | c.537C>G (p.Val179=) n.598C>G c.126C>G (p.Val42=) c.276C>G (p.Val92=) n.448+439C>G c.226+439C>G | |
| 10 | g.133532173C>T | CA472244943 | CYP2E1 | c.537C>T (p.Val179=) n.598C>T c.126C>T (p.Val42=) c.276C>T (p.Val92=) n.448+439C>T c.226+439C>T | |
| 10 | g.133532174A= | CA1946830217 | CYP2E1 | c.538A= (p.Ile180=) n.599A= c.127A= (p.Ile43=) c.277A= (p.Ile93=) n.448+440A= c.226+440A= | |
| 10 | g.133532174A>C | CA378835225 | CYP2E1 | c.538A>C (p.Ile180Leu) n.599A>C c.127A>C (p.Ile43Leu) c.277A>C (p.Ile93Leu) n.448+440A>C c.226+440A>C | |
| 10 | g.133532174A>G | CA378835228 | CYP2E1 | c.538A>G (p.Ile180Val) n.599A>G c.127A>G (p.Ile43Val) c.277A>G (p.Ile93Val) n.448+440A>G c.226+440A>G | dbSNP gnomAD v4 |
| 10 | g.133532174A>T | CA378835226 | CYP2E1 | c.538A>T (p.Ile180Leu) n.599A>T c.127A>T (p.Ile43Leu) c.277A>T (p.Ile93Leu) n.448+440A>T c.226+440A>T | |
| 10 | g.133532175T>A | CA378835230 | CYP2E1 | c.539T>A (p.Ile180Lys) n.600T>A c.128T>A (p.Ile43Lys) c.278T>A (p.Ile93Lys) n.448+441T>A c.226+441T>A | |
| 10 | g.133532175T>C | CA378835234 | CYP2E1 | c.539T>C (p.Ile180Thr) n.600T>C c.128T>C (p.Ile43Thr) c.278T>C (p.Ile93Thr) n.448+441T>C c.226+441T>C | |
| 10 | g.133532175T>G | CA378835232 | CYP2E1 | c.539T>G (p.Ile180Arg) n.600T>G c.128T>G (p.Ile43Arg) c.278T>G (p.Ile93Arg) n.448+441T>G c.226+441T>G | |
| 10 | g.133532176A= | CA1946830224 | CYP2E1 | c.540A= (p.Ile180=) n.601A= c.129A= (p.Ile43=) c.279A= (p.Ile93=) n.448+442A= c.226+442A= | |
| 10 | g.133532176A>C | CA472244959 | CYP2E1 | c.540A>C (p.Ile180=) n.601A>C c.129A>C (p.Ile43=) c.279A>C (p.Ile93=) n.448+442A>C c.226+442A>C | |
| 10 | g.133532176A>G | CA5767625 | CYP2E1 | c.540A>G (p.Ile180Met) n.601A>G c.129A>G (p.Ile43Met) c.279A>G (p.Ile93Met) n.448+442A>G c.226+442A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.133532176A>T | CA472244966 | CYP2E1 | c.540A>T (p.Ile180=) n.601A>T c.129A>T (p.Ile43=) c.279A>T (p.Ile93=) n.448+442A>T c.226+442A>T | |
| 10 | g.133532177del | CA2611616713 | CYP2E1 | c.541del (p.Ala181ProfsTer17) n.602del c.130del (p.Ala44ProfsTer17) c.280del (p.Ala94ProfsTer17) n.448+443del c.226+443del | gnomAD v4 |
| 10 | g.133532177G>A | CA378835243 | CYP2E1 | c.541G>A (p.Ala181Thr) n.602G>A c.130G>A (p.Ala44Thr) c.280G>A (p.Ala94Thr) n.448+443G>A c.226+443G>A | |
| 10 | g.133532177G>C | CA378835240 | CYP2E1 | c.541G>C (p.Ala181Pro) n.602G>C c.130G>C (p.Ala44Pro) c.280G>C (p.Ala94Pro) n.448+443G>C c.226+443G>C | |
| 10 | g.133532177G>T | CA378835250 | CYP2E1 | c.541G>T (p.Ala181Ser) n.602G>T c.130G>T (p.Ala44Ser) c.280G>T (p.Ala94Ser) n.448+443G>T c.226+443G>T | |
| 10 | g.133532178C>A | CA378835255 | CYP2E1 | c.542C>A (p.Ala181Asp) n.603C>A c.131C>A (p.Ala44Asp) c.281C>A (p.Ala94Asp) n.448+444C>A c.226+444C>A | |
| 10 | g.133532178C>G | CA378835257 | CYP2E1 | c.542C>G (p.Ala181Gly) n.603C>G c.131C>G (p.Ala44Gly) c.281C>G (p.Ala94Gly) n.448+444C>G c.226+444C>G | |
| 10 | g.133532178C>T | CA378835259 | CYP2E1 | c.542C>T (p.Ala181Val) n.603C>T c.131C>T (p.Ala44Val) c.281C>T (p.Ala94Val) n.448+444C>T c.226+444C>T | |
| 10 | g.133532178_133532179dup | CA2611616715 | CYP2E1 | c.542_543dup (p.Asp182ProfsTer17) n.603_604dup c.131_132dup (p.Asp45ProfsTer17) c.281_282dup (p.Asp95ProfsTer17) n.448+444_448+445dup c.226+444_226+445dup | gnomAD v4 |
| 10 | g.133532179C>A | CA472244983 | CYP2E1 | c.543C>A (p.Ala181=) n.604C>A c.132C>A (p.Ala44=) c.282C>A (p.Ala94=) n.448+445C>A c.226+445C>A | |
| 10 | g.133532179C= | CA1946830231 | CYP2E1 | c.543C= (p.Ala181=) n.604C= c.132C= (p.Ala44=) c.282C= (p.Ala94=) n.448+445C= c.226+445C= | |
| 10 | g.133532179C>G | CA5767626 | CYP2E1 | c.543C>G (p.Ala181=) n.604C>G c.132C>G (p.Ala44=) c.282C>G (p.Ala94=) n.448+445C>G c.226+445C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.133532179C>T | CA5767627 | CYP2E1 | c.543C>T (p.Ala181=) n.604C>T c.132C>T (p.Ala44=) c.282C>T (p.Ala94=) n.448+445C>T c.226+445C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.133532180G>A | CA5767628 | CYP2E1 | c.544G>A (p.Asp182Asn) n.605G>A c.133G>A (p.Asp45Asn) c.283G>A (p.Asp95Asn) n.448+446G>A c.226+446G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.133532180G>C | CA378835261 | CYP2E1 | c.544G>C (p.Asp182His) n.605G>C c.133G>C (p.Asp45His) c.283G>C (p.Asp95His) n.448+446G>C c.226+446G>C | |
| 10 | g.133532180G= | CA1946830234 | CYP2E1 | c.544G= (p.Asp182=) n.605G= c.133G= (p.Asp45=) c.283G= (p.Asp95=) n.448+446G= c.226+446G= | |
| 10 | g.133532180G>T | CA378835263 | CYP2E1 | c.544G>T (p.Asp182Tyr) n.605G>T c.133G>T (p.Asp45Tyr) c.283G>T (p.Asp95Tyr) n.448+446G>T c.226+446G>T | |
| 10 | g.133532181A= | CA1946830237 | CYP2E1 | c.545A= (p.Asp182=) n.606A= c.134A= (p.Asp45=) c.284A= (p.Asp95=) n.448+447A= c.226+447A= | |
| 10 | g.133532181A>C | CA378835266 | CYP2E1 | c.545A>C (p.Asp182Ala) n.606A>C c.134A>C (p.Asp45Ala) c.284A>C (p.Asp95Ala) n.448+447A>C c.226+447A>C | |
| 10 | g.133532181A>G | CA378835270 | CYP2E1 | c.545A>G (p.Asp182Gly) n.606A>G c.134A>G (p.Asp45Gly) c.284A>G (p.Asp95Gly) n.448+447A>G c.226+447A>G | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.133532181A>T | CA378835273 | CYP2E1 | c.545A>T (p.Asp182Val) n.606A>T c.134A>T (p.Asp45Val) c.284A>T (p.Asp95Val) n.448+447A>T c.226+447A>T | gnomAD v4 |
| 10 | g.133532182C>A | CA378835285 | CYP2E1 | c.546C>A (p.Asp182Glu) n.607C>A c.135C>A (p.Asp45Glu) c.285C>A (p.Asp95Glu) n.448+448C>A c.226+448C>A | |
| 10 | g.133532182C= | CA1946830247 | CYP2E1 | c.546C= (p.Asp182=) n.607C= c.135C= (p.Asp45=) c.285C= (p.Asp95=) n.448+448C= c.226+448C= | |
| 10 | g.133532182C>G | CA378835287 | CYP2E1 | c.546C>G (p.Asp182Glu) n.607C>G c.135C>G (p.Asp45Glu) c.285C>G (p.Asp95Glu) n.448+448C>G c.226+448C>G | |
| 10 | g.133532182C>T | CA472245013 | CYP2E1 | c.546C>T (p.Asp182=) n.607C>T c.135C>T (p.Asp45=) c.285C>T (p.Asp95=) n.448+448C>T c.226+448C>T | dbSNP |
| 10 | g.133532183A>C | CA378835290 | CYP2E1 | c.547A>C (p.Ile183Leu) n.608A>C c.136A>C (p.Ile46Leu) c.286A>C (p.Ile96Leu) n.448+449A>C c.226+449A>C | |
| 10 | g.133532183A>G | CA378835292 | CYP2E1 | c.547A>G (p.Ile183Val) n.608A>G c.136A>G (p.Ile46Val) c.286A>G (p.Ile96Val) n.448+449A>G c.226+449A>G | |
| 10 | g.133532183A>T | CA378835291 | CYP2E1 | c.547A>T (p.Ile183Phe) n.608A>T c.136A>T (p.Ile46Phe) c.286A>T (p.Ile96Phe) n.448+449A>T c.226+449A>T |