Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.41012316T>A | CA405984203 | CYP2B6 | c.983T>A (p.Ile328Asn) c.1007T>A c.275T>A (p.Ile92Asn) n.478T>A c.503T>A (p.Ile168Asn) c.392T>A (p.Ile131Asn) c.383T>A (p.Ile128Asn) | |
19 | g.41012316T>C | CA9455439 | CYP2B6 | c.983T>C (p.Ile328Thr) c.1007T>C c.275T>C (p.Ile92Thr) n.478T>C c.503T>C (p.Ile168Thr) c.392T>C (p.Ile131Thr) c.383T>C (p.Ile128Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41012316T>G | CA405984204 | CYP2B6 | c.983T>G (p.Ile328Ser) c.1007T>G c.275T>G (p.Ile92Ser) n.478T>G c.503T>G (p.Ile168Ser) c.392T>G (p.Ile131Ser) c.383T>G (p.Ile128Ser) | |
19 | g.41012316T= | CA2336260295 | CYP2B6 | c.983T= (p.Ile328=) c.1007T= c.275T= (p.Ile92=) n.478T= c.503T= (p.Ile168=) c.392T= (p.Ile131=) c.383T= (p.Ile128=) | |
19 | g.41012317T>A | CA507537548 | CYP2B6 | c.984T>A (p.Ile328=) c.1008T>A c.276T>A (p.Ile92=) n.479T>A c.504T>A (p.Ile168=) c.393T>A (p.Ile131=) c.384T>A (p.Ile128=) | |
19 | g.41012317T>C | CA507537547 | CYP2B6 | c.984T>C (p.Ile328=) c.1008T>C c.276T>C (p.Ile92=) n.479T>C c.504T>C (p.Ile168=) c.393T>C (p.Ile131=) c.384T>C (p.Ile128=) | gnomAD v4 |
19 | g.41012317T>G | CA405984205 | CYP2B6 | c.984T>G (p.Ile328Met) c.1008T>G c.276T>G (p.Ile92Met) n.479T>G c.504T>G (p.Ile168Met) c.393T>G (p.Ile131Met) c.384T>G (p.Ile128Met) | |
19 | g.41012318G>A | CA9455440 | CYP2B6 | c.985G>A (p.Glu329Lys) c.1009G>A c.277G>A (p.Glu93Lys) n.480G>A c.505G>A (p.Glu169Lys) c.394G>A (p.Glu132Lys) c.385G>A (p.Glu129Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41012318G>C | CA405984206 | CYP2B6 | c.985G>C (p.Glu329Gln) c.1009G>C c.277G>C (p.Glu93Gln) n.480G>C c.505G>C (p.Glu169Gln) c.394G>C (p.Glu132Gln) c.385G>C (p.Glu129Gln) | |
19 | g.41012318G= | CA2336260296 | CYP2B6 | c.985G= (p.Glu329=) c.1009G= c.277G= (p.Glu93=) n.480G= c.505G= (p.Glu169=) c.394G= (p.Glu132=) c.385G= (p.Glu129=) | |
19 | g.41012318G>T | CA405984207 | CYP2B6 | c.985G>T (p.Glu329Ter) c.1009G>T c.277G>T (p.Glu93Ter) n.480G>T c.505G>T (p.Glu169Ter) c.394G>T (p.Glu132Ter) c.385G>T (p.Glu129Ter) | |
19 | g.41012319A= | CA2336260297 | CYP2B6 | c.986A= (p.Glu329=) c.1010A= c.278A= (p.Glu93=) n.481A= c.506A= (p.Glu169=) c.395A= (p.Glu132=) c.386A= (p.Glu129=) | |
19 | g.41012319A>C | CA405984208 | CYP2B6 | c.986A>C (p.Glu329Ala) c.1010A>C c.278A>C (p.Glu93Ala) n.481A>C c.506A>C (p.Glu169Ala) c.395A>C (p.Glu132Ala) c.386A>C (p.Glu129Ala) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.41012319A>G | CA405984209 | CYP2B6 | c.986A>G (p.Glu329Gly) c.1010A>G c.278A>G (p.Glu93Gly) n.481A>G c.506A>G (p.Glu169Gly) c.395A>G (p.Glu132Gly) c.386A>G (p.Glu129Gly) | |
19 | g.41012319A>T | CA308499187 | CYP2B6 | c.986A>T (p.Glu329Val) c.1010A>T c.278A>T (p.Glu93Val) n.481A>T c.506A>T (p.Glu169Val) c.395A>T (p.Glu132Val) c.386A>T (p.Glu129Val) | dbSNP |
19 | g.41012320A>C | CA405984210 | CYP2B6 | c.987A>C (p.Glu329Asp) c.1011A>C c.279A>C (p.Glu93Asp) n.482A>C c.507A>C (p.Glu169Asp) c.396A>C (p.Glu132Asp) c.387A>C (p.Glu129Asp) | |
19 | g.41012320A>G | CA507537552 | CYP2B6 | c.987A>G (p.Glu329=) c.1011A>G c.279A>G (p.Glu93=) n.482A>G c.507A>G (p.Glu169=) c.396A>G (p.Glu132=) c.387A>G (p.Glu129=) | gnomAD v4 |
19 | g.41012320A>T | CA405984211 | CYP2B6 | c.987A>T (p.Glu329Asp) c.1011A>T c.279A>T (p.Glu93Asp) n.482A>T c.507A>T (p.Glu169Asp) c.396A>T (p.Glu132Asp) c.387A>T (p.Glu129Asp) | |
19 | g.41012321C>A | CA405984214 | CYP2B6 | c.988C>A (p.Gln330Lys) c.1012C>A c.280C>A (p.Gln94Lys) n.483C>A c.508C>A (p.Gln170Lys) c.397C>A (p.Gln133Lys) c.388C>A (p.Gln130Lys) | |
19 | g.41012321C>G | CA405984212 | CYP2B6 | c.988C>G (p.Gln330Glu) c.1012C>G c.280C>G (p.Gln94Glu) n.483C>G c.508C>G (p.Gln170Glu) c.397C>G (p.Gln133Glu) c.388C>G (p.Gln130Glu) | |
19 | g.41012321C>T | CA405984213 | CYP2B6 | c.988C>T (p.Gln330Ter) c.1012C>T c.280C>T (p.Gln94Ter) n.483C>T c.508C>T (p.Gln170Ter) c.397C>T (p.Gln133Ter) c.388C>T (p.Gln130Ter) | |
19 | g.41012322A>C | CA405984215 | CYP2B6 | c.989A>C (p.Gln330Pro) c.1013A>C c.281A>C (p.Gln94Pro) n.484A>C c.509A>C (p.Gln170Pro) c.398A>C (p.Gln133Pro) c.389A>C (p.Gln130Pro) | |
19 | g.41012322A>G | CA405984216 | CYP2B6 | c.989A>G (p.Gln330Arg) c.1013A>G c.281A>G (p.Gln94Arg) n.484A>G c.509A>G (p.Gln170Arg) c.398A>G (p.Gln133Arg) c.389A>G (p.Gln130Arg) | |
19 | g.41012322A>T | CA405984217 | CYP2B6 | c.989A>T (p.Gln330Leu) c.1013A>T c.281A>T (p.Gln94Leu) n.484A>T c.509A>T (p.Gln170Leu) c.398A>T (p.Gln133Leu) c.389A>T (p.Gln130Leu) | |
19 | g.41012323G>A | CA507537554 | CYP2B6 | c.990G>A (p.Gln330=) c.1014G>A c.282G>A (p.Gln94=) n.485G>A c.510G>A (p.Gln170=) c.399G>A (p.Gln133=) c.390G>A (p.Gln130=) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.41012323G>C | CA405984218 | CYP2B6 | c.990G>C (p.Gln330His) c.1014G>C c.282G>C (p.Gln94His) n.485G>C c.510G>C (p.Gln170His) c.399G>C (p.Gln133His) c.390G>C (p.Gln130His) | gnomAD v4 |
19 | g.41012323G= | CA2336260298 | CYP2B6 | c.990G= (p.Gln330=) c.1014G= c.282G= (p.Gln94=) n.485G= c.510G= (p.Gln170=) c.399G= (p.Gln133=) c.390G= (p.Gln130=) | |
19 | g.41012323G>T | CA405984219 | CYP2B6 | c.990G>T (p.Gln330His) c.1014G>T c.282G>T (p.Gln94His) n.485G>T c.510G>T (p.Gln170His) c.399G>T (p.Gln133His) c.390G>T (p.Gln130His) | gnomAD v4 |
19 | g.41012324G>A | CA405984220 | CYP2B6 | c.991G>A (p.Val331Met) c.1015G>A c.283G>A (p.Val95Met) n.486G>A c.511G>A (p.Val171Met) c.400G>A (p.Val134Met) c.391G>A (p.Val131Met) | |
19 | g.41012324G>C | CA405984221 | CYP2B6 | c.991G>C (p.Val331Leu) c.1015G>C c.283G>C (p.Val95Leu) n.486G>C c.511G>C (p.Val171Leu) c.400G>C (p.Val134Leu) c.391G>C (p.Val131Leu) | |
19 | g.41012324G= | CA2336260299 | CYP2B6 | c.991G= (p.Val331=) c.1015G= c.283G= (p.Val95=) n.486G= c.511G= (p.Val171=) c.400G= (p.Val134=) c.391G= (p.Val131=) | |
19 | g.41012324G>T | CA405984222 | CYP2B6 | c.991G>T (p.Val331Leu) c.1015G>T c.283G>T (p.Val95Leu) n.486G>T c.511G>T (p.Val171Leu) c.400G>T (p.Val134Leu) c.391G>T (p.Val131Leu) | dbSNP |
19 | g.41012325T>A | CA405984223 | CYP2B6 | c.992T>A (p.Val331Glu) c.1016T>A c.284T>A (p.Val95Glu) n.487T>A c.512T>A (p.Val171Glu) c.401T>A (p.Val134Glu) c.392T>A (p.Val131Glu) | dbSNP |
19 | g.41012325T>C | CA405984224 | CYP2B6 | c.992T>C (p.Val331Ala) c.1016T>C c.284T>C (p.Val95Ala) n.487T>C c.512T>C (p.Val171Ala) c.401T>C (p.Val134Ala) c.392T>C (p.Val131Ala) | dbSNP |
19 | g.41012325T>G | CA405984225 | CYP2B6 | c.992T>G (p.Val331Gly) c.1016T>G c.284T>G (p.Val95Gly) n.487T>G c.512T>G (p.Val171Gly) c.401T>G (p.Val134Gly) c.392T>G (p.Val131Gly) | |
19 | g.41012325T= | CA2336260300 | CYP2B6 | c.992T= (p.Val331=) c.1016T= c.284T= (p.Val95=) n.487T= c.512T= (p.Val171=) c.401T= (p.Val134=) c.392T= (p.Val131=) | |
19 | g.41012326G>A | CA507537555 | CYP2B6 | c.993G>A (p.Val331=) c.1017G>A c.285G>A (p.Val95=) n.488G>A c.513G>A (p.Val171=) c.402G>A (p.Val134=) c.393G>A (p.Val131=) | |
19 | g.41012326G>C | CA507537556 | CYP2B6 | c.993G>C (p.Val331=) c.1017G>C c.285G>C (p.Val95=) n.488G>C c.513G>C (p.Val171=) c.402G>C (p.Val134=) c.393G>C (p.Val131=) | |
19 | g.41012326G>T | CA507537558 | CYP2B6 | c.993G>T (p.Val331=) c.1017G>T c.285G>T (p.Val95=) n.488G>T c.513G>T (p.Val171=) c.402G>T (p.Val134=) c.393G>T (p.Val131=) | |
19 | g.41012327A= | CA2336260301 | CYP2B6 | c.994A= (p.Ile332=) c.1018A= c.286A= (p.Ile96=) n.489A= c.514A= (p.Ile172=) c.403A= (p.Ile135=) c.394A= (p.Ile132=) | |
19 | g.41012327A>C | CA405984228 | CYP2B6 | c.994A>C (p.Ile332Leu) c.1018A>C c.286A>C (p.Ile96Leu) n.489A>C c.514A>C (p.Ile172Leu) c.403A>C (p.Ile135Leu) c.394A>C (p.Ile132Leu) | |
19 | g.41012327A>G | CA9455442 | CYP2B6 | c.994A>G (p.Ile332Val) c.1018A>G c.286A>G (p.Ile96Val) n.489A>G c.514A>G (p.Ile172Val) c.403A>G (p.Ile135Val) c.394A>G (p.Ile132Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.41012327A>T | CA9455441 | CYP2B6 | c.994A>T (p.Ile332Phe) c.1018A>T c.286A>T (p.Ile96Phe) n.489A>T c.514A>T (p.Ile172Phe) c.403A>T (p.Ile135Phe) c.394A>T (p.Ile132Phe) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41012328T>A | CA405984233 | CYP2B6 | c.995T>A (p.Ile332Asn) c.1019T>A c.287T>A (p.Ile96Asn) n.490T>A c.515T>A (p.Ile172Asn) c.404T>A (p.Ile135Asn) c.395T>A (p.Ile132Asn) | |
19 | g.41012328T>C | CA9455443 | CYP2B6 | c.995T>C (p.Ile332Thr) c.1019T>C c.287T>C (p.Ile96Thr) n.490T>C c.515T>C (p.Ile172Thr) c.404T>C (p.Ile135Thr) c.395T>C (p.Ile132Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.41012328T>G | CA405984232 | CYP2B6 | c.995T>G (p.Ile332Ser) c.1019T>G c.287T>G (p.Ile96Ser) n.490T>G c.515T>G (p.Ile172Ser) c.404T>G (p.Ile135Ser) c.395T>G (p.Ile132Ser) | |
19 | g.41012328T= | CA2336260302 | CYP2B6 | c.995T= (p.Ile332=) c.1019T= c.287T= (p.Ile96=) n.490T= c.515T= (p.Ile172=) c.404T= (p.Ile135=) c.395T= (p.Ile132=) | |
19 | g.41012329T>A | CA507537561 | CYP2B6 | c.996T>A (p.Ile332=) c.1020T>A c.288T>A (p.Ile96=) n.491T>A c.516T>A (p.Ile172=) c.405T>A (p.Ile135=) c.396T>A (p.Ile132=) | |
19 | g.41012329T>C | CA9455444 | CYP2B6 | c.996T>C (p.Ile332=) c.1020T>C c.288T>C (p.Ile96=) n.491T>C c.516T>C (p.Ile172=) c.405T>C (p.Ile135=) c.396T>C (p.Ile132=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41012329T>G | CA405984236 | CYP2B6 | c.996T>G (p.Ile332Met) c.1020T>G c.288T>G (p.Ile96Met) n.491T>G c.516T>G (p.Ile172Met) c.405T>G (p.Ile135Met) c.396T>G (p.Ile132Met) |