| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.41012465C>A | CA507537722 | CYP2B6 | c.1132C>A (p.Arg378=) c.1156C>A c.424C>A (p.Arg142=) n.627C>A c.652C>A (p.Arg218=) c.541C>A (p.Arg181=) c.532C>A (p.Arg178=) | |
| 19 | g.41012465C= | CA2336260375 | CYP2B6 | c.1132C= (p.Arg378=) c.1156C= c.424C= (p.Arg142=) n.627C= c.652C= (p.Arg218=) c.541C= (p.Arg181=) c.532C= (p.Arg178=) | |
| 19 | g.41012465C>G | CA405984794 | CYP2B6 | c.1132C>G (p.Arg378Gly) c.1156C>G c.424C>G (p.Arg142Gly) n.627C>G c.652C>G (p.Arg218Gly) c.541C>G (p.Arg181Gly) c.532C>G (p.Arg178Gly) | |
| 19 | g.41012465C>T | CA233033 | CYP2B6 | c.1132C>T (p.Arg378Ter) c.1156C>T c.424C>T (p.Arg142Ter) n.627C>T c.652C>T (p.Arg218Ter) c.541C>T (p.Arg181Ter) c.532C>T (p.Arg178Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 19 | g.41012466G>A | CA9455488 | CYP2B6 | c.1133G>A (p.Arg378Gln) c.1157G>A c.425G>A (p.Arg142Gln) n.628G>A c.653G>A (p.Arg218Gln) c.542G>A (p.Arg181Gln) c.533G>A (p.Arg178Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.41012466G>C | CA405984798 | CYP2B6 | c.1133G>C (p.Arg378Pro) c.1157G>C c.425G>C (p.Arg142Pro) n.628G>C c.653G>C (p.Arg218Pro) c.542G>C (p.Arg181Pro) c.533G>C (p.Arg178Pro) | |
| 19 | g.41012466G= | CA2336260376 | CYP2B6 | c.1133G= (p.Arg378=) c.1157G= c.425G= (p.Arg142=) n.628G= c.653G= (p.Arg218=) c.542G= (p.Arg181=) c.533G= (p.Arg178=) | |
| 19 | g.41012466G>T | CA405984801 | CYP2B6 | c.1133G>T (p.Arg378Leu) c.1157G>T c.425G>T (p.Arg142Leu) n.628G>T c.653G>T (p.Arg218Leu) c.542G>T (p.Arg181Leu) c.533G>T (p.Arg178Leu) | COSMIC |
| 19 | g.41012467A>C | CA507537723 | CYP2B6 | c.1134A>C (p.Arg378=) c.1158A>C c.426A>C (p.Arg142=) n.629A>C c.654A>C (p.Arg218=) c.543A>C (p.Arg181=) c.534A>C (p.Arg178=) | |
| 19 | g.41012467A>G | CA507537725 | CYP2B6 | c.1134A>G (p.Arg378=) c.1158A>G c.426A>G (p.Arg142=) n.629A>G c.654A>G (p.Arg218=) c.543A>G (p.Arg181=) c.534A>G (p.Arg178=) | |
| 19 | g.41012467A>T | CA507537726 | CYP2B6 | c.1134A>T (p.Arg378=) c.1158A>T c.426A>T (p.Arg142=) n.629A>T c.654A>T (p.Arg218=) c.543A>T (p.Arg181=) c.534A>T (p.Arg178=) | |
| 19 | g.41012467_41012468delinsAG | CA2336260377 | CYP2B6 | c.1134_1135delinsAG (p.Arg378=) c.1158_1159delinsAG c.426_427delinsAG (p.Arg142=) n.629_630delinsAG c.654_655delinsAG (p.Arg218=) c.543_544delinsAG (p.Arg181=) c.534_535delinsAG (p.Arg178=) | |
| 19 | g.41012468G>A | CA405984806 | CYP2B6 | c.1135G>A (p.Gly379Arg) c.1159G>A c.427G>A (p.Gly143Arg) n.630G>A c.655G>A (p.Gly219Arg) c.544G>A (p.Gly182Arg) c.535G>A (p.Gly179Arg) | |
| 19 | g.41012468G>C | CA405984805 | CYP2B6 | c.1135G>C (p.Gly379Arg) c.1159G>C c.427G>C (p.Gly143Arg) n.630G>C c.655G>C (p.Gly219Arg) c.544G>C (p.Gly182Arg) c.535G>C (p.Gly179Arg) | |
| 19 | g.41012468G= | CA2336260378 | CYP2B6 | c.1135G= (p.Gly379=) c.1159G= c.427G= (p.Gly143=) n.630G= c.655G= (p.Gly219=) c.544G= (p.Gly182=) c.535G= (p.Gly179=) | |
| 19 | g.41012468G>T | CA405984803 | CYP2B6 | c.1135G>T (p.Gly379Trp) c.1159G>T c.427G>T (p.Gly143Trp) n.630G>T c.655G>T (p.Gly219Trp) c.544G>T (p.Gly182Trp) c.535G>T (p.Gly179Trp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.41012470del | CA507537727 | CYP2B6 | c.1137del (p.Tyr380ThrfsTer13) c.1161del c.429del (p.Tyr144ThrfsTer13) n.632del c.1137del (p.Tyr380ThrfsTer12) c.1137del (p.Tyr380ThrfsTer6) c.1137del (p.Tyr380ThrfsTer?) c.657del (p.Tyr220ThrfsTer13) c.546del (p.Tyr183ThrfsTer13) c.537del (p.Tyr180ThrfsTer13) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.41012469G>A | CA405984809 | CYP2B6 | c.1136G>A (p.Gly379Glu) c.1160G>A c.428G>A (p.Gly143Glu) n.631G>A c.656G>A (p.Gly219Glu) c.545G>A (p.Gly182Glu) c.536G>A (p.Gly179Glu) | gnomAD v4 |
| 19 | g.41012469G>C | CA405984811 | CYP2B6 | c.1136G>C (p.Gly379Ala) c.1160G>C c.428G>C (p.Gly143Ala) n.631G>C c.656G>C (p.Gly219Ala) c.545G>C (p.Gly182Ala) c.536G>C (p.Gly179Ala) | dbSNP |
| 19 | g.41012469G= | CA2336260379 | CYP2B6 | c.1136G= (p.Gly379=) c.1160G= c.428G= (p.Gly143=) n.631G= c.656G= (p.Gly219=) c.545G= (p.Gly182=) c.536G= (p.Gly179=) | |
| 19 | g.41012469G>T | CA405984812 | CYP2B6 | c.1136G>T (p.Gly379Val) c.1160G>T c.428G>T (p.Gly143Val) n.631G>T c.656G>T (p.Gly219Val) c.545G>T (p.Gly182Val) c.536G>T (p.Gly179Val) | |
| 19 | g.41012470G>A | CA507537729 | CYP2B6 | c.1137G>A (p.Gly379=) c.1161G>A c.429G>A (p.Gly143=) n.632G>A c.657G>A (p.Gly219=) c.546G>A (p.Gly182=) c.537G>A (p.Gly179=) | gnomAD v4 |
| 19 | g.41012470G>C | CA507537730 | CYP2B6 | c.1137G>C (p.Gly379=) c.1161G>C c.429G>C (p.Gly143=) n.632G>C c.657G>C (p.Gly219=) c.546G>C (p.Gly182=) c.537G>C (p.Gly179=) | |
| 19 | g.41012470G= | CA2336260380 | CYP2B6 | c.1137G= (p.Gly379=) c.1161G= c.429G= (p.Gly143=) n.632G= c.657G= (p.Gly219=) c.546G= (p.Gly182=) c.537G= (p.Gly179=) | |
| 19 | g.41012470G>T | CA507537731 | CYP2B6 | c.1137G>T (p.Gly379=) c.1161G>T c.429G>T (p.Gly143=) n.632G>T c.657G>T (p.Gly219=) c.546G>T (p.Gly182=) c.537G>T (p.Gly179=) | dbSNP gnomAD v4 |
| 19 | g.41012471T>A | CA405984815 | CYP2B6 | c.1138T>A (p.Tyr380Asn) c.1162T>A c.430T>A (p.Tyr144Asn) n.633T>A c.658T>A (p.Tyr220Asn) c.547T>A (p.Tyr183Asn) c.538T>A (p.Tyr180Asn) | |
| 19 | g.41012471T>C | CA9455489 | CYP2B6 | c.1138T>C (p.Tyr380His) c.1162T>C c.430T>C (p.Tyr144His) n.633T>C c.658T>C (p.Tyr220His) c.547T>C (p.Tyr183His) c.538T>C (p.Tyr180His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.41012471T>G | CA405984817 | CYP2B6 | c.1138T>G (p.Tyr380Asp) c.1162T>G c.430T>G (p.Tyr144Asp) n.633T>G c.658T>G (p.Tyr220Asp) c.547T>G (p.Tyr183Asp) c.538T>G (p.Tyr180Asp) | |
| 19 | g.41012471T= | CA2336260381 | CYP2B6 | c.1138T= (p.Tyr380=) c.1162T= c.430T= (p.Tyr144=) n.633T= c.658T= (p.Tyr220=) c.547T= (p.Tyr183=) c.538T= (p.Tyr180=) | |
| 19 | g.41012472A>C | CA405984820 | CYP2B6 | c.1139A>C (p.Tyr380Ser) c.1163A>C c.431A>C (p.Tyr144Ser) n.634A>C c.659A>C (p.Tyr220Ser) c.548A>C (p.Tyr183Ser) c.539A>C (p.Tyr180Ser) | |
| 19 | g.41012472A>G | CA405984821 | CYP2B6 | c.1139A>G (p.Tyr380Cys) c.1163A>G c.431A>G (p.Tyr144Cys) n.634A>G c.659A>G (p.Tyr220Cys) c.548A>G (p.Tyr183Cys) c.539A>G (p.Tyr180Cys) | |
| 19 | g.41012472A>T | CA405984823 | CYP2B6 | c.1139A>T (p.Tyr380Phe) c.1163A>T c.431A>T (p.Tyr144Phe) n.634A>T c.659A>T (p.Tyr220Phe) c.548A>T (p.Tyr183Phe) c.539A>T (p.Tyr180Phe) | |
| 19 | g.41012473C>A | CA405984825 | CYP2B6 | c.1140C>A (p.Tyr380Ter) c.1164C>A c.432C>A (p.Tyr144Ter) n.635C>A c.660C>A (p.Tyr220Ter) c.549C>A (p.Tyr183Ter) c.540C>A (p.Tyr180Ter) | |
| 19 | g.41012473C= | CA2336260382 | CYP2B6 | c.1140C= (p.Tyr380=) c.1164C= c.432C= (p.Tyr144=) n.635C= c.660C= (p.Tyr220=) c.549C= (p.Tyr183=) c.540C= (p.Tyr180=) | |
| 19 | g.41012473C>G | CA405984827 | CYP2B6 | c.1140C>G (p.Tyr380Ter) c.1164C>G c.432C>G (p.Tyr144Ter) n.635C>G c.660C>G (p.Tyr220Ter) c.549C>G (p.Tyr183Ter) c.540C>G (p.Tyr180Ter) | |
| 19 | g.41012473C>T | CA9455490 | CYP2B6 | c.1140C>T (p.Tyr380=) c.1164C>T c.432C>T (p.Tyr144=) n.635C>T c.660C>T (p.Tyr220=) c.549C>T (p.Tyr183=) c.540C>T (p.Tyr180=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.41012474del | CA2585217068 | CYP2B6 | c.1141del (p.Ile381SerfsTer12) c.1165del c.433del (p.Ile145SerfsTer12) n.636del c.1141del (p.Ile381SerfsTer11) c.1141del (p.Ile381SerfsTer5) c.1141del (p.Ile381SerfsTer?) c.661del (p.Ile221SerfsTer12) c.550del (p.Ile184SerfsTer12) c.541del (p.Ile181SerfsTer12) | gnomAD v4 |
| 19 | g.41012474A= | CA2336260383 | CYP2B6 | c.1141A= (p.Ile381=) c.1165A= c.433A= (p.Ile145=) n.636A= c.661A= (p.Ile221=) c.550A= (p.Ile184=) c.541A= (p.Ile181=) | |
| 19 | g.41012474A>C | CA9455491 | CYP2B6 | c.1141A>C (p.Ile381Leu) c.1165A>C c.433A>C (p.Ile145Leu) n.636A>C c.661A>C (p.Ile221Leu) c.550A>C (p.Ile184Leu) c.541A>C (p.Ile181Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.41012474A>G | CA405984832 | CYP2B6 | c.1141A>G (p.Ile381Val) c.1165A>G c.433A>G (p.Ile145Val) n.636A>G c.661A>G (p.Ile221Val) c.550A>G (p.Ile184Val) c.541A>G (p.Ile181Val) | dbSNP |
| 19 | g.41012474A>T | CA405984830 | CYP2B6 | c.1141A>T (p.Ile381Phe) c.1165A>T c.433A>T (p.Ile145Phe) n.636A>T c.661A>T (p.Ile221Phe) c.550A>T (p.Ile184Phe) c.541A>T (p.Ile181Phe) | |
| 19 | g.41012475T>A | CA405984835 | CYP2B6 | c.1142T>A (p.Ile381Asn) c.1166T>A c.434T>A (p.Ile145Asn) n.637T>A c.662T>A (p.Ile221Asn) c.551T>A (p.Ile184Asn) c.542T>A (p.Ile181Asn) | gnomAD v4 |
| 19 | g.41012475T>C | CA405984836 | CYP2B6 | c.1142T>C (p.Ile381Thr) c.1166T>C c.434T>C (p.Ile145Thr) n.637T>C c.662T>C (p.Ile221Thr) c.551T>C (p.Ile184Thr) c.542T>C (p.Ile181Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.41012475T>G | CA405984838 | CYP2B6 | c.1142T>G (p.Ile381Ser) c.1166T>G c.434T>G (p.Ile145Ser) n.637T>G c.662T>G (p.Ile221Ser) c.551T>G (p.Ile184Ser) c.542T>G (p.Ile181Ser) | |
| 19 | g.41012475T= | CA2336260384 | CYP2B6 | c.1142T= (p.Ile381=) c.1166T= c.434T= (p.Ile145=) n.637T= c.662T= (p.Ile221=) c.551T= (p.Ile184=) c.542T= (p.Ile181=) | |
| 19 | g.41012476C>A | CA507537735 | CYP2B6 | c.1143C>A (p.Ile381=) c.1167C>A c.435C>A (p.Ile145=) n.638C>A c.663C>A (p.Ile221=) c.552C>A (p.Ile184=) c.543C>A (p.Ile181=) | |
| 19 | g.41012476C>G | CA405984840 | CYP2B6 | c.1143C>G (p.Ile381Met) c.1167C>G c.435C>G (p.Ile145Met) n.638C>G c.663C>G (p.Ile221Met) c.552C>G (p.Ile184Met) c.543C>G (p.Ile181Met) | |
| 19 | g.41012476C>T | CA507537736 | CYP2B6 | c.1143C>T (p.Ile381=) c.1167C>T c.435C>T (p.Ile145=) n.638C>T c.663C>T (p.Ile221=) c.552C>T (p.Ile184=) c.543C>T (p.Ile181=) | gnomAD v4 |
| 19 | g.41012476_41012493del | CA2585217072 | CYP2B6 | c.1143_1152+8del c.1167_1176+8del c.435_444+8del n.638_647+8del c.663_672+8del c.552_561+8del c.543_552+8del | gnomAD v4 |
| 19 | g.41012477A= | CA2336260385 | CYP2B6 | c.1144A= (p.Ile382=) c.1168A= c.436A= (p.Ile146=) n.639A= c.664A= (p.Ile222=) c.553A= (p.Ile185=) c.544A= (p.Ile182=) |