Chr Mutation (hg38) CAid Gene Transcript Linkouts
7g.99762077T>ACA368368874CYP3A4c.1217A>T (p.Lys406Met)
n.652A>T
c.758A>T (p.Lys253Met)
c.1070A>T (p.Lys357Met)
c.767A>T (p.Lys256Met)
c.1214A>T (p.Lys405Met)
COSMIC
7g.99762077T>CCA368368875CYP3A4c.1217A>G (p.Lys406Arg)
n.652A>G
c.758A>G (p.Lys253Arg)
c.1070A>G (p.Lys357Arg)
c.767A>G (p.Lys256Arg)
c.1214A>G (p.Lys405Arg)
7g.99762077T>GCA368368876CYP3A4c.1217A>C (p.Lys406Thr)
n.652A>C
c.758A>C (p.Lys253Thr)
c.1070A>C (p.Lys357Thr)
c.767A>C (p.Lys256Thr)
c.1214A>C (p.Lys405Thr)
7g.99762078T>ACA368368879CYP3A4c.1216A>T (p.Lys406Ter)
n.651A>T
c.757A>T (p.Lys253Ter)
c.1069A>T (p.Lys357Ter)
c.766A>T (p.Lys256Ter)
c.1213A>T (p.Lys405Ter)
dbSNP gnomAD v3 gnomAD v4
7g.99762078T>CCA368368878CYP3A4c.1216A>G (p.Lys406Glu)
n.651A>G
c.757A>G (p.Lys253Glu)
c.1069A>G (p.Lys357Glu)
c.766A>G (p.Lys256Glu)
c.1213A>G (p.Lys405Glu)
gnomAD v4
7g.99762078T>GCA368368877CYP3A4c.1216A>C (p.Lys406Gln)
n.651A>C
c.757A>C (p.Lys253Gln)
c.1069A>C (p.Lys357Gln)
c.766A>C (p.Lys256Gln)
c.1213A>C (p.Lys405Gln)
7g.99762078T=CA1729177297CYP3A4c.1216A= (p.Lys406=)
n.651A=
c.757A= (p.Lys253=)
c.1069A= (p.Lys357=)
c.766A= (p.Lys256=)
c.1213A= (p.Lys405=)
7g.99762079T>ACA456687145CYP3A4c.1215A>T (p.Pro405=)
n.650A>T
c.756A>T (p.Pro252=)
c.1068A>T (p.Pro356=)
c.765A>T (p.Pro255=)
c.1212A>T (p.Pro404=)
7g.99762079T>CCA456687146CYP3A4c.1215A>G (p.Pro405=)
n.650A>G
c.756A>G (p.Pro252=)
c.1068A>G (p.Pro356=)
c.765A>G (p.Pro255=)
c.1212A>G (p.Pro404=)
7g.99762079T>GCA456687147CYP3A4c.1215A>C (p.Pro405=)
n.650A>C
c.756A>C (p.Pro252=)
c.1068A>C (p.Pro356=)
c.765A>C (p.Pro255=)
c.1212A>C (p.Pro404=)
7g.99762080G>ACA368368881CYP3A4c.1214C>T (p.Pro405Leu)
n.649C>T
c.755C>T (p.Pro252Leu)
c.1067C>T (p.Pro356Leu)
c.764C>T (p.Pro255Leu)
c.1211C>T (p.Pro404Leu)
7g.99762080G>CCA368368880CYP3A4c.1214C>G (p.Pro405Arg)
n.649C>G
c.755C>G (p.Pro252Arg)
c.1067C>G (p.Pro356Arg)
c.764C>G (p.Pro255Arg)
c.1211C>G (p.Pro404Arg)
7g.99762080G>TCA368368882CYP3A4c.1214C>A (p.Pro405Gln)
n.649C>A
c.755C>A (p.Pro252Gln)
c.1067C>A (p.Pro356Gln)
c.764C>A (p.Pro255Gln)
c.1211C>A (p.Pro404Gln)
7g.99762081G>ACA368368883CYP3A4c.1213C>T (p.Pro405Ser)
n.648C>T
c.754C>T (p.Pro252Ser)
c.1066C>T (p.Pro356Ser)
c.763C>T (p.Pro255Ser)
c.1210C>T (p.Pro404Ser)
7g.99762081G>CCA368368885CYP3A4c.1213C>G (p.Pro405Ala)
n.648C>G
c.754C>G (p.Pro252Ala)
c.1066C>G (p.Pro356Ala)
c.763C>G (p.Pro255Ala)
c.1210C>G (p.Pro404Ala)
7g.99762081G=CA1729177298CYP3A4c.1213C= (p.Pro405=)
n.648C=
c.754C= (p.Pro252=)
c.1066C= (p.Pro356=)
c.763C= (p.Pro255=)
c.1210C= (p.Pro404=)
7g.99762081G>TCA368368884CYP3A4c.1213C>A (p.Pro405Thr)
n.648C>A
c.754C>A (p.Pro252Thr)
c.1066C>A (p.Pro356Thr)
c.763C>A (p.Pro255Thr)
c.1210C>A (p.Pro404Thr)
dbSNP gnomAD v2 gnomAD v4
7g.99762082G>ACA456687148CYP3A4c.1212C>T (p.Asp404=)
n.647C>T
c.753C>T (p.Asp251=)
c.1065C>T (p.Asp355=)
c.762C>T (p.Asp254=)
c.1209C>T (p.Asp403=)
7g.99762082G>CCA368368886CYP3A4c.1212C>G (p.Asp404Glu)
n.647C>G
c.753C>G (p.Asp251Glu)
c.1065C>G (p.Asp355Glu)
c.762C>G (p.Asp254Glu)
c.1209C>G (p.Asp403Glu)
7g.99762082G>TCA368368887CYP3A4c.1212C>A (p.Asp404Glu)
n.647C>A
c.753C>A (p.Asp251Glu)
c.1065C>A (p.Asp355Glu)
c.762C>A (p.Asp254Glu)
c.1209C>A (p.Asp403Glu)
7g.99762083T>ACA368368888CYP3A4c.1211A>T (p.Asp404Val)
n.646A>T
c.752A>T (p.Asp251Val)
c.1064A>T (p.Asp355Val)
c.761A>T (p.Asp254Val)
c.1208A>T (p.Asp403Val)
7g.99762083T>CCA368368889CYP3A4c.1211A>G (p.Asp404Gly)
n.646A>G
c.752A>G (p.Asp251Gly)
c.1064A>G (p.Asp355Gly)
c.761A>G (p.Asp254Gly)
c.1208A>G (p.Asp403Gly)
7g.99762083T>GCA368368890CYP3A4c.1211A>C (p.Asp404Ala)
n.646A>C
c.752A>C (p.Asp251Ala)
c.1064A>C (p.Asp355Ala)
c.761A>C (p.Asp254Ala)
c.1208A>C (p.Asp403Ala)
7g.99762084C>ACA368368891CYP3A4c.1210G>T (p.Asp404Tyr)
n.645G>T
c.751G>T (p.Asp251Tyr)
c.1063G>T (p.Asp355Tyr)
c.760G>T (p.Asp254Tyr)
c.1207G>T (p.Asp403Tyr)
7g.99762084C>GCA368368892CYP3A4c.1210G>C (p.Asp404His)
n.645G>C
c.751G>C (p.Asp251His)
c.1063G>C (p.Asp355His)
c.760G>C (p.Asp254His)
c.1207G>C (p.Asp403His)
7g.99762084C>TCA368368893CYP3A4c.1210G>A (p.Asp404Asn)
n.645G>A
c.751G>A (p.Asp251Asn)
c.1063G>A (p.Asp355Asn)
c.760G>A (p.Asp254Asn)
c.1207G>A (p.Asp403Asn)
7g.99762085A>CCA456687149CYP3A4c.1209T>G (p.Arg403=)
n.644T>G
c.750T>G (p.Arg250=)
c.1062T>G (p.Arg354=)
c.759T>G (p.Arg253=)
c.1206T>G (p.Arg402=)
7g.99762085A>GCA456687150CYP3A4c.1209T>C (p.Arg403=)
n.644T>C
c.750T>C (p.Arg250=)
c.1062T>C (p.Arg354=)
c.759T>C (p.Arg253=)
c.1206T>C (p.Arg402=)
7g.99762085A>TCA456687151CYP3A4c.1209T>A (p.Arg403=)
n.644T>A
c.750T>A (p.Arg250=)
c.1062T>A (p.Arg354=)
c.759T>A (p.Arg253=)
c.1206T>A (p.Arg402=)
7g.99762086C>ACA368368894CYP3A4c.1208G>T (p.Arg403Leu)
n.643G>T
c.749G>T (p.Arg250Leu)
c.1061G>T (p.Arg354Leu)
c.758G>T (p.Arg253Leu)
c.1205G>T (p.Arg402Leu)
7g.99762086C=CA1729177299CYP3A4c.1208G= (p.Arg403=)
n.643G=
c.749G= (p.Arg250=)
c.1061G= (p.Arg354=)
c.758G= (p.Arg253=)
c.1205G= (p.Arg402=)
7g.99762086C>GCA4369539CYP3A4c.1208G>C (p.Arg403Pro)
n.643G>C
c.749G>C (p.Arg250Pro)
c.1061G>C (p.Arg354Pro)
c.758G>C (p.Arg253Pro)
c.1205G>C (p.Arg402Pro)
dbSNP ExAC gnomAD v2 gnomAD v4
7g.99762086C>TCA163151529CYP3A4c.1208G>A (p.Arg403His)
n.643G>A
c.749G>A (p.Arg250His)
c.1061G>A (p.Arg354His)
c.758G>A (p.Arg253His)
c.1205G>A (p.Arg402His)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
7g.99762087G>ACA4369540CYP3A4c.1207C>T (p.Arg403Cys)
n.642C>T
c.748C>T (p.Arg250Cys)
c.1060C>T (p.Arg354Cys)
c.757C>T (p.Arg253Cys)
c.1204C>T (p.Arg402Cys)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
7g.99762087G>CCA368368896CYP3A4c.1207C>G (p.Arg403Gly)
n.642C>G
c.748C>G (p.Arg250Gly)
c.1060C>G (p.Arg354Gly)
c.757C>G (p.Arg253Gly)
c.1204C>G (p.Arg402Gly)
7g.99762087G=CA1729177300CYP3A4c.1207C= (p.Arg403=)
n.642C=
c.748C= (p.Arg250=)
c.1060C= (p.Arg354=)
c.757C= (p.Arg253=)
c.1204C= (p.Arg402=)
7g.99762087G>TCA368368895CYP3A4c.1207C>A (p.Arg403Ser)
n.642C>A
c.748C>A (p.Arg250Ser)
c.1060C>A (p.Arg354Ser)
c.757C>A (p.Arg253Ser)
c.1204C>A (p.Arg402Ser)
7g.99762088G>ACA163151530CYP3A4c.1206C>T (p.His402=)
n.641C>T
c.747C>T (p.His249=)
c.1059C>T (p.His353=)
c.756C>T (p.His252=)
c.1203C>T (p.His401=)
dbSNP gnomAD v4
7g.99762088G>CCA368368897CYP3A4c.1206C>G (p.His402Gln)
n.641C>G
c.747C>G (p.His249Gln)
c.1059C>G (p.His353Gln)
c.756C>G (p.His252Gln)
c.1203C>G (p.His401Gln)
7g.99762088G=CA1729177301CYP3A4c.1206C= (p.His402=)
n.641C=
c.747C= (p.His249=)
c.1059C= (p.His353=)
c.756C= (p.His252=)
c.1203C= (p.His401=)
7g.99762088G>TCA368368898CYP3A4c.1206C>A (p.His402Gln)
n.641C>A
c.747C>A (p.His249Gln)
c.1059C>A (p.His353Gln)
c.756C>A (p.His252Gln)
c.1203C>A (p.His401Gln)
7g.99762089T>ACA368368899CYP3A4c.1205A>T (p.His402Leu)
n.640A>T
c.746A>T (p.His249Leu)
c.1058A>T (p.His353Leu)
c.755A>T (p.His252Leu)
c.1202A>T (p.His401Leu)
7g.99762089T>CCA368368900CYP3A4c.1205A>G (p.His402Arg)
n.640A>G
c.746A>G (p.His249Arg)
c.1058A>G (p.His353Arg)
c.755A>G (p.His252Arg)
c.1202A>G (p.His401Arg)
7g.99762089T>GCA368368901CYP3A4c.1205A>C (p.His402Pro)
n.640A>C
c.746A>C (p.His249Pro)
c.1058A>C (p.His353Pro)
c.755A>C (p.His252Pro)
c.1202A>C (p.His401Pro)
7g.99762090G>ACA368368902CYP3A4c.1204C>T (p.His402Tyr)
n.639C>T
c.745C>T (p.His249Tyr)
c.1057C>T (p.His353Tyr)
c.754C>T (p.His252Tyr)
c.1201C>T (p.His401Tyr)
gnomAD v4
7g.99762090G>CCA368368903CYP3A4c.1204C>G (p.His402Asp)
n.639C>G
c.745C>G (p.His249Asp)
c.1057C>G (p.His353Asp)
c.754C>G (p.His252Asp)
c.1201C>G (p.His401Asp)
7g.99762090G>TCA368368904CYP3A4c.1204C>A (p.His402Asn)
n.639C>A
c.745C>A (p.His249Asn)
c.1057C>A (p.His353Asn)
c.754C>A (p.His252Asn)
c.1201C>A (p.His401Asn)
7g.99762091A>CCA456687152CYP3A4c.1203T>G (p.Leu401=)
n.638T>G
c.744T>G (p.Leu248=)
c.1056T>G (p.Leu352=)
c.753T>G (p.Leu251=)
c.1200T>G (p.Leu400=)
7g.99762091A>GCA456687153CYP3A4c.1203T>C (p.Leu401=)
n.638T>C
c.744T>C (p.Leu248=)
c.1056T>C (p.Leu352=)
c.753T>C (p.Leu251=)
c.1200T>C (p.Leu400=)
7g.99762091A>TCA456687154CYP3A4c.1203T>A (p.Leu401=)
n.638T>A
c.744T>A (p.Leu248=)
c.1056T>A (p.Leu352=)
c.753T>A (p.Leu251=)
c.1200T>A (p.Leu400=)
7g.99762092A=CA1729177302CYP3A4c.1202T= (p.Leu401=)
n.637T=
c.743T= (p.Leu248=)
c.1055T= (p.Leu352=)
c.752T= (p.Leu251=)
c.1199T= (p.Leu400=)
7g.99762092A>CCA368368905CYP3A4c.1202T>G (p.Leu401Arg)
n.637T>G
c.743T>G (p.Leu248Arg)
c.1055T>G (p.Leu352Arg)
c.752T>G (p.Leu251Arg)
c.1199T>G (p.Leu400Arg)
7g.99762092A>GCA163151533CYP3A4c.1202T>C (p.Leu401Pro)
n.637T>C
c.743T>C (p.Leu248Pro)
c.1055T>C (p.Leu352Pro)
c.752T>C (p.Leu251Pro)
c.1199T>C (p.Leu400Pro)
dbSNP
7g.99762092A>TCA368368906CYP3A4c.1202T>A (p.Leu401His)
n.637T>A
c.743T>A (p.Leu248His)
c.1055T>A (p.Leu352His)
c.752T>A (p.Leu251His)
c.1199T>A (p.Leu400His)
7g.99762093delCA2578955112CYP3A4c.1201del (p.Leu401PhefsTer19)
n.636del
c.1201del (p.Leu401PhefsTer27)
c.742del (p.Leu248PhefsTer27)
c.1054del (p.Leu352PhefsTer27)
c.751del (p.Leu251PhefsTer27)
c.1198del (p.Leu400PhefsTer27)
c.1198del (p.Leu400PhefsTer19)
7g.99762093G>ACA368368909CYP3A4c.1201C>T (p.Leu401Phe)
n.636C>T
c.742C>T (p.Leu248Phe)
c.1054C>T (p.Leu352Phe)
c.751C>T (p.Leu251Phe)
c.1198C>T (p.Leu400Phe)
dbSNP
7g.99762093G>CCA368368908CYP3A4c.1201C>G (p.Leu401Val)
n.636C>G
c.742C>G (p.Leu248Val)
c.1054C>G (p.Leu352Val)
c.751C>G (p.Leu251Val)
c.1198C>G (p.Leu400Val)
7g.99762093G=CA1729177303CYP3A4c.1201C= (p.Leu401=)
n.636C=
c.742C= (p.Leu248=)
c.1054C= (p.Leu352=)
c.751C= (p.Leu251=)
c.1198C= (p.Leu400=)
7g.99762093G>TCA368368907CYP3A4c.1201C>A (p.Leu401Ile)
n.636C>A
c.742C>A (p.Leu248Ile)
c.1054C>A (p.Leu352Ile)
c.751C>A (p.Leu251Ile)
c.1198C>A (p.Leu400Ile)
7g.99762094A>CCA456687155CYP3A4c.1200T>G (p.Ala400=)
n.635T>G
c.741T>G (p.Ala247=)
c.1053T>G (p.Ala351=)
c.750T>G (p.Ala250=)
c.1197T>G (p.Ala399=)
gnomAD v4
7g.99762094A>GCA456687156CYP3A4c.1200T>C (p.Ala400=)
n.635T>C
c.741T>C (p.Ala247=)
c.1053T>C (p.Ala351=)
c.750T>C (p.Ala250=)
c.1197T>C (p.Ala399=)
7g.99762094A>TCA456687157CYP3A4c.1200T>A (p.Ala400=)
n.635T>A
c.741T>A (p.Ala247=)
c.1053T>A (p.Ala351=)
c.750T>A (p.Ala250=)
c.1197T>A (p.Ala399=)
7g.99762095G>ACA368368912CYP3A4c.1199C>T (p.Ala400Val)
n.634C>T
c.740C>T (p.Ala247Val)
c.1052C>T (p.Ala351Val)
c.749C>T (p.Ala250Val)
c.1196C>T (p.Ala399Val)
dbSNP gnomAD v4
7g.99762095G>CCA368368910CYP3A4c.1199C>G (p.Ala400Gly)
n.634C>G
c.740C>G (p.Ala247Gly)
c.1052C>G (p.Ala351Gly)
c.749C>G (p.Ala250Gly)
c.1196C>G (p.Ala399Gly)
7g.99762095G=CA1729177304CYP3A4c.1199C= (p.Ala400=)
n.634C=
c.740C= (p.Ala247=)
c.1052C= (p.Ala351=)
c.749C= (p.Ala250=)
c.1196C= (p.Ala399=)
7g.99762095G>TCA368368911CYP3A4c.1199C>A (p.Ala400Asp)
n.634C>A
c.740C>A (p.Ala247Asp)
c.1052C>A (p.Ala351Asp)
c.749C>A (p.Ala250Asp)
c.1196C>A (p.Ala399Asp)
7g.99762096C>ACA368368914CYP3A4c.1198G>T (p.Ala400Ser)
n.633G>T
c.739G>T (p.Ala247Ser)
c.1051G>T (p.Ala351Ser)
c.748G>T (p.Ala250Ser)
c.1195G>T (p.Ala399Ser)
7g.99762096C>GCA368368916CYP3A4c.1198G>C (p.Ala400Pro)
n.633G>C
c.739G>C (p.Ala247Pro)
c.1051G>C (p.Ala351Pro)
c.748G>C (p.Ala250Pro)
c.1195G>C (p.Ala399Pro)
7g.99762096C>TCA368368917CYP3A4c.1198G>A (p.Ala400Thr)
n.633G>A
c.739G>A (p.Ala247Thr)
c.1051G>A (p.Ala351Thr)
c.748G>A (p.Ala250Thr)
c.1195G>A (p.Ala399Thr)
7g.99762097A=CA1729177305CYP3A4c.1197T= (p.Tyr399=)
n.632T=
c.738T= (p.Tyr246=)
c.1050T= (p.Tyr350=)
c.747T= (p.Tyr249=)
c.1194T= (p.Tyr398=)
7g.99762097A>CCA368368920CYP3A4c.1197T>G (p.Tyr399Ter)
n.632T>G
c.738T>G (p.Tyr246Ter)
c.1050T>G (p.Tyr350Ter)
c.747T>G (p.Tyr249Ter)
c.1194T>G (p.Tyr398Ter)
7g.99762097A>GCA456687158CYP3A4c.1197T>C (p.Tyr399=)
n.632T>C
c.738T>C (p.Tyr246=)
c.1050T>C (p.Tyr350=)
c.747T>C (p.Tyr249=)
c.1194T>C (p.Tyr398=)
7g.99762097A>TCA368368922CYP3A4c.1197T>A (p.Tyr399Ter)
n.632T>A
c.738T>A (p.Tyr246Ter)
c.1050T>A (p.Tyr350Ter)
c.747T>A (p.Tyr249Ter)
c.1194T>A (p.Tyr398Ter)
dbSNP gnomAD v4
7g.99762098T>ACA368368925CYP3A4c.1196A>T (p.Tyr399Phe)
n.631A>T
c.737A>T (p.Tyr246Phe)
c.1049A>T (p.Tyr350Phe)
c.746A>T (p.Tyr249Phe)
c.1193A>T (p.Tyr398Phe)
7g.99762098T>CCA368368932CYP3A4c.1196A>G (p.Tyr399Cys)
n.631A>G
c.737A>G (p.Tyr246Cys)
c.1049A>G (p.Tyr350Cys)
c.746A>G (p.Tyr249Cys)
c.1193A>G (p.Tyr398Cys)
dbSNP gnomAD v4
7g.99762098T>GCA368368935CYP3A4c.1196A>C (p.Tyr399Ser)
n.631A>C
c.737A>C (p.Tyr246Ser)
c.1049A>C (p.Tyr350Ser)
c.746A>C (p.Tyr249Ser)
c.1193A>C (p.Tyr398Ser)
dbSNP gnomAD v4
7g.99762098T=CA1729177306CYP3A4c.1196A= (p.Tyr399=)
n.631A=
c.737A= (p.Tyr246=)
c.1049A= (p.Tyr350=)
c.746A= (p.Tyr249=)
c.1193A= (p.Tyr398=)
7g.99762099A>CCA368368936CYP3A4c.1195T>G (p.Tyr399Asp)
n.630T>G
c.736T>G (p.Tyr246Asp)
c.1048T>G (p.Tyr350Asp)
c.745T>G (p.Tyr249Asp)
c.1192T>G (p.Tyr398Asp)
7g.99762099A>GCA368368937CYP3A4c.1195T>C (p.Tyr399His)
n.630T>C
c.736T>C (p.Tyr246His)
c.1048T>C (p.Tyr350His)
c.745T>C (p.Tyr249His)
c.1192T>C (p.Tyr398His)
7g.99762099A>TCA368368938CYP3A4c.1195T>A (p.Tyr399Asn)
n.630T>A
c.736T>A (p.Tyr246Asn)
c.1048T>A (p.Tyr350Asn)
c.745T>A (p.Tyr249Asn)
c.1192T>A (p.Tyr398Asn)
7g.99762100G>ACA4369541CYP3A4c.1194C>T (p.Ser398=)
n.629C>T
c.735C>T (p.Ser245=)
c.1047C>T (p.Ser349=)
c.744C>T (p.Ser248=)
c.1191C>T (p.Ser397=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.99762100G>CCA368368940CYP3A4c.1194C>G (p.Ser398Arg)
n.629C>G
c.735C>G (p.Ser245Arg)
c.1047C>G (p.Ser349Arg)
c.744C>G (p.Ser248Arg)
c.1191C>G (p.Ser397Arg)
dbSNP gnomAD v2 gnomAD v4
7g.99762100G=CA1729177307CYP3A4c.1194C= (p.Ser398=)
n.629C=
c.735C= (p.Ser245=)
c.1047C= (p.Ser349=)
c.744C= (p.Ser248=)
c.1191C= (p.Ser397=)
7g.99762100G>TCA368368942CYP3A4c.1194C>A (p.Ser398Arg)
n.629C>A
c.735C>A (p.Ser245Arg)
c.1047C>A (p.Ser349Arg)
c.744C>A (p.Ser248Arg)
c.1191C>A (p.Ser397Arg)
7g.99762101C>ACA368368945CYP3A4c.1193G>T (p.Ser398Ile)
n.628G>T
c.734G>T (p.Ser245Ile)
c.1046G>T (p.Ser349Ile)
c.743G>T (p.Ser248Ile)
c.1190G>T (p.Ser397Ile)
7g.99762101C=CA1729177308CYP3A4c.1193G= (p.Ser398=)
n.628G=
c.734G= (p.Ser245=)
c.1046G= (p.Ser349=)
c.743G= (p.Ser248=)
c.1190G= (p.Ser397=)
7g.99762101C>GCA368368948CYP3A4c.1193G>C (p.Ser398Thr)
n.628G>C
c.734G>C (p.Ser245Thr)
c.1046G>C (p.Ser349Thr)
c.743G>C (p.Ser248Thr)
c.1190G>C (p.Ser397Thr)
7g.99762101C>TCA4369542CYP3A4c.1193G>A (p.Ser398Asn)
n.628G>A
c.734G>A (p.Ser245Asn)
c.1046G>A (p.Ser349Asn)
c.743G>A (p.Ser248Asn)
c.1190G>A (p.Ser397Asn)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.99762102T>ACA368368950CYP3A4c.1192A>T (p.Ser398Cys)
n.627A>T
c.733A>T (p.Ser245Cys)
c.1045A>T (p.Ser349Cys)
c.742A>T (p.Ser248Cys)
c.1189A>T (p.Ser397Cys)
gnomAD v4
7g.99762102T>CCA368368952CYP3A4c.1192A>G (p.Ser398Gly)
n.627A>G
c.733A>G (p.Ser245Gly)
c.1045A>G (p.Ser349Gly)
c.742A>G (p.Ser248Gly)
c.1189A>G (p.Ser397Gly)
gnomAD v4
7g.99762102T>GCA368368954CYP3A4c.1192A>C (p.Ser398Arg)
n.627A>C
c.733A>C (p.Ser245Arg)
c.1045A>C (p.Ser349Arg)
c.742A>C (p.Ser248Arg)
c.1189A>C (p.Ser397Arg)
7g.99762103T>ACA456687159CYP3A4c.1191A>T (p.Pro397=)
n.626A>T
c.732A>T (p.Pro244=)
c.1044A>T (p.Pro348=)
c.741A>T (p.Pro247=)
c.1188A>T (p.Pro396=)
7g.99762103T>CCA456687161CYP3A4c.1191A>G (p.Pro397=)
n.626A>G
c.732A>G (p.Pro244=)
c.1044A>G (p.Pro348=)
c.741A>G (p.Pro247=)
c.1188A>G (p.Pro396=)
7g.99762103T>GCA456687160CYP3A4c.1191A>C (p.Pro397=)
n.626A>C
c.732A>C (p.Pro244=)
c.1044A>C (p.Pro348=)
c.741A>C (p.Pro247=)
c.1188A>C (p.Pro396=)
7g.99762104G>ACA368368957CYP3A4c.1190C>T (p.Pro397Leu)
n.625C>T
c.731C>T (p.Pro244Leu)
c.1043C>T (p.Pro348Leu)
c.740C>T (p.Pro247Leu)
c.1187C>T (p.Pro396Leu)
dbSNP gnomAD v2 gnomAD v4 COSMIC
7g.99762104G>CCA368368959CYP3A4c.1190C>G (p.Pro397Arg)
n.625C>G
c.731C>G (p.Pro244Arg)
c.1043C>G (p.Pro348Arg)
c.740C>G (p.Pro247Arg)
c.1187C>G (p.Pro396Arg)
dbSNP
7g.99762104G=CA1729177309CYP3A4c.1190C= (p.Pro397=)
n.625C=
c.731C= (p.Pro244=)
c.1043C= (p.Pro348=)
c.740C= (p.Pro247=)
c.1187C= (p.Pro396=)
7g.99762104G>TCA368368961CYP3A4c.1190C>A (p.Pro397Gln)
n.625C>A
c.731C>A (p.Pro244Gln)
c.1043C>A (p.Pro348Gln)
c.740C>A (p.Pro247Gln)
c.1187C>A (p.Pro396Gln)
7g.99762104_99762105insTATTTTTATATTTAGACA2554306543CYP3A4c.1189_1190insTCTAAATATAAAAATA (p.Pro397LeufsTer2)
n.624_625insTCTAAATATAAAAATA
c.730_731insTCTAAATATAAAAATA (p.Pro244LeufsTer2)
c.1042_1043insTCTAAATATAAAAATA (p.Pro348LeufsTer2)
c.739_740insTCTAAATATAAAAATA (p.Pro247LeufsTer2)
c.1186_1187insTCTAAATATAAAAATA (p.Pro396LeufsTer2)
7g.99762105G>ACA368368963CYP3A4c.1189C>T (p.Pro397Ser)
n.624C>T
c.730C>T (p.Pro244Ser)
c.1042C>T (p.Pro348Ser)
c.739C>T (p.Pro247Ser)
c.1186C>T (p.Pro396Ser)
7g.99762105G>CCA368368965CYP3A4c.1189C>G (p.Pro397Ala)
n.624C>G
c.730C>G (p.Pro244Ala)
c.1042C>G (p.Pro348Ala)
c.739C>G (p.Pro247Ala)
c.1186C>G (p.Pro396Ala)
7g.99762105G>TCA368368967CYP3A4c.1189C>A (p.Pro397Thr)
n.624C>A
c.730C>A (p.Pro244Thr)
c.1042C>A (p.Pro348Thr)
c.739C>A (p.Pro247Thr)
c.1186C>A (p.Pro396Thr)
7g.99762106A>CCA368368970CYP3A4c.1188T>G (p.Ile396Met)
n.623T>G
c.729T>G (p.Ile243Met)
c.1041T>G (p.Ile347Met)
c.738T>G (p.Ile246Met)
c.1185T>G (p.Ile395Met)
gnomAD v4
7g.99762106A>GCA456687163CYP3A4c.1188T>C (p.Ile396=)
n.623T>C
c.729T>C (p.Ile243=)
c.1041T>C (p.Ile347=)
c.738T>C (p.Ile246=)
c.1185T>C (p.Ile395=)
7g.99762106A>TCA456687164CYP3A4c.1188T>A (p.Ile396=)
n.623T>A
c.729T>A (p.Ile243=)
c.1041T>A (p.Ile347=)
c.738T>A (p.Ile246=)
c.1185T>A (p.Ile395=)
7g.99762107A=CA1729177310CYP3A4c.1187T= (p.Ile396=)
n.622T=
c.728T= (p.Ile243=)
c.1040T= (p.Ile347=)
c.737T= (p.Ile246=)
c.1184T= (p.Ile395=)
7g.99762107A>CCA368368975CYP3A4c.1187T>G (p.Ile396Ser)
n.622T>G
c.728T>G (p.Ile243Ser)
c.1040T>G (p.Ile347Ser)
c.737T>G (p.Ile246Ser)
c.1184T>G (p.Ile395Ser)
7g.99762107A>GCA4369543CYP3A4c.1187T>C (p.Ile396Thr)
n.622T>C
c.728T>C (p.Ile243Thr)
c.1040T>C (p.Ile347Thr)
c.737T>C (p.Ile246Thr)
c.1184T>C (p.Ile395Thr)
dbSNP ExAC gnomAD v4
7g.99762107A>TCA368368972CYP3A4c.1187T>A (p.Ile396Asn)
n.622T>A
c.728T>A (p.Ile243Asn)
c.1040T>A (p.Ile347Asn)
c.737T>A (p.Ile246Asn)
c.1184T>A (p.Ile395Asn)
7g.99762108T>ACA368368979CYP3A4c.1186A>T (p.Ile396Phe)
n.621A>T
c.727A>T (p.Ile243Phe)
c.1039A>T (p.Ile347Phe)
c.736A>T (p.Ile246Phe)
c.1183A>T (p.Ile395Phe)
7g.99762108T>CCA368368983CYP3A4c.1186A>G (p.Ile396Val)
n.621A>G
c.727A>G (p.Ile243Val)
c.1039A>G (p.Ile347Val)
c.736A>G (p.Ile246Val)
c.1183A>G (p.Ile395Val)
7g.99762108T>GCA368368980CYP3A4c.1186A>C (p.Ile396Leu)
n.621A>C
c.727A>C (p.Ile243Leu)
c.1039A>C (p.Ile347Leu)
c.736A>C (p.Ile246Leu)
c.1183A>C (p.Ile395Leu)
7g.99762109C>ACA4369544CYP3A4c.1185G>T (p.Met395Ile)
n.620G>T
c.726G>T (p.Met242Ile)
c.1038G>T (p.Met346Ile)
c.735G>T (p.Met245Ile)
c.1182G>T (p.Met394Ile)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.99762109C=CA1729177311CYP3A4c.1185G= (p.Met395=)
n.620G=
c.726G= (p.Met242=)
c.1038G= (p.Met346=)
c.735G= (p.Met245=)
c.1182G= (p.Met394=)
7g.99762109C>GCA368368987CYP3A4c.1185G>C (p.Met395Ile)
n.620G>C
c.726G>C (p.Met242Ile)
c.1038G>C (p.Met346Ile)
c.735G>C (p.Met245Ile)
c.1182G>C (p.Met394Ile)
7g.99762109C>TCA368368989CYP3A4c.1185G>A (p.Met395Ile)
n.620G>A
c.726G>A (p.Met242Ile)
c.1038G>A (p.Met346Ile)
c.735G>A (p.Met245Ile)
c.1182G>A (p.Met394Ile)
7g.99762110A>CCA368368992CYP3A4c.1184T>G (p.Met395Arg)
n.619T>G
c.725T>G (p.Met242Arg)
c.1037T>G (p.Met346Arg)
c.734T>G (p.Met245Arg)
c.1181T>G (p.Met394Arg)
7g.99762110A>GCA368368994CYP3A4c.1184T>C (p.Met395Thr)
n.619T>C
c.725T>C (p.Met242Thr)
c.1037T>C (p.Met346Thr)
c.734T>C (p.Met245Thr)
c.1181T>C (p.Met394Thr)
7g.99762110A>TCA368368996CYP3A4c.1184T>A (p.Met395Lys)
n.619T>A
c.725T>A (p.Met242Lys)
c.1037T>A (p.Met346Lys)
c.734T>A (p.Met245Lys)
c.1181T>A (p.Met394Lys)
7g.99762111T>ACA368368999CYP3A4c.1183A>T (p.Met395Leu)
n.618A>T
c.724A>T (p.Met242Leu)
c.1036A>T (p.Met346Leu)
c.733A>T (p.Met245Leu)
c.1180A>T (p.Met394Leu)
7g.99762111T>CCA4369545CYP3A4c.1183A>G (p.Met395Val)
n.618A>G
c.724A>G (p.Met242Val)
c.1036A>G (p.Met346Val)
c.733A>G (p.Met245Val)
c.1180A>G (p.Met394Val)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.99762111T>GCA368369004CYP3A4c.1183A>C (p.Met395Leu)
n.618A>C
c.724A>C (p.Met242Leu)
c.1036A>C (p.Met346Leu)
c.733A>C (p.Met245Leu)
c.1180A>C (p.Met394Leu)
7g.99762111T=CA1729177312CYP3A4c.1183A= (p.Met395=)
n.618A=
c.724A= (p.Met242=)
c.1036A= (p.Met346=)
c.733A= (p.Met245=)
c.1180A= (p.Met394=)
7g.99762111_99762114delinsTCACCA1729177313CYP3A4c.1180_1183delinsGTGA (p.Val394=)
n.615_618delinsGTGA
c.721_724delinsGTGA (p.Val241=)
c.1033_1036delinsGTGA (p.Val345=)
c.730_733delinsGTGA (p.Val244=)
c.1177_1180delinsGTGA (p.Val393=)
7g.99762112C>ACA456687165CYP3A4c.1182G>T (p.Val394=)
n.617G>T
c.723G>T (p.Val241=)
c.1035G>T (p.Val345=)
c.732G>T (p.Val244=)
c.1179G>T (p.Val393=)
7g.99762112C=CA1729177314CYP3A4c.1182G= (p.Val394=)
n.617G=
c.723G= (p.Val241=)
c.1035G= (p.Val345=)
c.732G= (p.Val244=)
c.1179G= (p.Val393=)
7g.99762112C>GCA456687166CYP3A4c.1182G>C (p.Val394=)
n.617G>C
c.723G>C (p.Val241=)
c.1035G>C (p.Val345=)
c.732G>C (p.Val244=)
c.1179G>C (p.Val393=)
7g.99762112C>TCA456687167CYP3A4c.1182G>A (p.Val394=)
n.617G>A
c.723G>A (p.Val241=)
c.1035G>A (p.Val345=)
c.732G>A (p.Val244=)
c.1179G>A (p.Val393=)
dbSNP
7g.99762119_99762121delCA915509875CYP3A4c.1180_1182del (p.Val394del)
n.615_617del
c.721_723del (p.Val241del)
c.1033_1035del (p.Val345del)
c.730_732del (p.Val244del)
c.1177_1179del (p.Val393del)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.99762113A>CCA368369006CYP3A4c.1181T>G (p.Val394Gly)
n.616T>G
c.722T>G (p.Val241Gly)
c.1034T>G (p.Val345Gly)
c.731T>G (p.Val244Gly)
c.1178T>G (p.Val393Gly)
7g.99762113A>GCA368369008CYP3A4c.1181T>C (p.Val394Ala)
n.616T>C
c.722T>C (p.Val241Ala)
c.1034T>C (p.Val345Ala)
c.731T>C (p.Val244Ala)
c.1178T>C (p.Val393Ala)
gnomAD v4
7g.99762113A>TCA368369010CYP3A4c.1181T>A (p.Val394Glu)
n.616T>A
c.722T>A (p.Val241Glu)
c.1034T>A (p.Val345Glu)
c.731T>A (p.Val244Glu)
c.1178T>A (p.Val393Glu)
7g.99762114C>ACA368369013CYP3A4c.1180G>T (p.Val394Leu)
n.615G>T
c.721G>T (p.Val241Leu)
c.1033G>T (p.Val345Leu)
c.730G>T (p.Val244Leu)
c.1177G>T (p.Val393Leu)
7g.99762114C=CA1729177315CYP3A4c.1180G= (p.Val394=)
n.615G=
c.721G= (p.Val241=)
c.1033G= (p.Val345=)
c.730G= (p.Val244=)
c.1177G= (p.Val393=)
7g.99762114C>GCA368369016CYP3A4c.1180G>C (p.Val394Leu)
n.615G>C
c.721G>C (p.Val241Leu)
c.1033G>C (p.Val345Leu)
c.730G>C (p.Val244Leu)
c.1177G>C (p.Val393Leu)
dbSNP gnomAD v3 gnomAD v4
7g.99762114C>TCA368369014CYP3A4c.1180G>A (p.Val394Met)
n.615G>A
c.721G>A (p.Val241Met)
c.1033G>A (p.Val345Met)
c.730G>A (p.Val244Met)
c.1177G>A (p.Val393Met)
7g.99762115delCA2715613393CYP3A4c.1180del (p.Val394Ter)
n.615del
c.721del (p.Val241Ter)
c.1033del (p.Val345Ter)
c.730del (p.Val244Ter)
c.1177del (p.Val393Ter)
dbSNP
7g.99762115C>ACA456687168CYP3A4c.1179G>T (p.Val393=)
n.614G>T
c.720G>T (p.Val240=)
c.1032G>T (p.Val344=)
c.729G>T (p.Val243=)
c.1176G>T (p.Val392=)
7g.99762115C>GCA456687170CYP3A4c.1179G>C (p.Val393=)
n.614G>C
c.720G>C (p.Val240=)
c.1032G>C (p.Val344=)
c.729G>C (p.Val243=)
c.1176G>C (p.Val392=)
7g.99762115C>TCA456687169CYP3A4c.1179G>A (p.Val393=)
n.614G>A
c.720G>A (p.Val240=)
c.1032G>A (p.Val344=)
c.729G>A (p.Val243=)
c.1176G>A (p.Val392=)
7g.99762116A>CCA368369019CYP3A4c.1178T>G (p.Val393Gly)
n.613T>G
c.719T>G (p.Val240Gly)
c.1031T>G (p.Val344Gly)
c.728T>G (p.Val243Gly)
c.1175T>G (p.Val392Gly)
7g.99762116A>GCA368369022CYP3A4c.1178T>C (p.Val393Ala)
n.613T>C
c.719T>C (p.Val240Ala)
c.1031T>C (p.Val344Ala)
c.728T>C (p.Val243Ala)
c.1175T>C (p.Val392Ala)
7g.99762116A>TCA368369023CYP3A4c.1178T>A (p.Val393Glu)
n.613T>A
c.719T>A (p.Val240Glu)
c.1031T>A (p.Val344Glu)
c.728T>A (p.Val243Glu)
c.1175T>A (p.Val392Glu)
7g.99762117C>ACA368369026CYP3A4c.1177G>T (p.Val393Leu)
n.612G>T
c.718G>T (p.Val240Leu)
c.1030G>T (p.Val344Leu)
c.727G>T (p.Val243Leu)
c.1174G>T (p.Val392Leu)
7g.99762117C=CA1729177316CYP3A4c.1177G= (p.Val393=)
n.612G=
c.718G= (p.Val240=)
c.1030G= (p.Val344=)
c.727G= (p.Val243=)
c.1174G= (p.Val392=)
7g.99762117C>GCA368369028CYP3A4c.1177G>C (p.Val393Leu)
n.612G>C
c.718G>C (p.Val240Leu)
c.1030G>C (p.Val344Leu)
c.727G>C (p.Val243Leu)
c.1174G>C (p.Val392Leu)
7g.99762117C>TCA368369030CYP3A4c.1177G>A (p.Val393Met)
n.612G>A
c.718G>A (p.Val240Met)
c.1030G>A (p.Val344Met)
c.727G>A (p.Val243Met)
c.1174G>A (p.Val392Met)
dbSNP gnomAD v3 gnomAD v4
7g.99762118C>ACA456687171CYP3A4c.1176G>T (p.Val392=)
n.611G>T
c.717G>T (p.Val239=)
c.1029G>T (p.Val343=)
c.726G>T (p.Val242=)
c.1173G>T (p.Val391=)
7g.99762118C=CA1729177317CYP3A4c.1176G= (p.Val392=)
n.611G=
c.717G= (p.Val239=)
c.1029G= (p.Val343=)
c.726G= (p.Val242=)
c.1173G= (p.Val391=)
7g.99762118C>GCA456687172CYP3A4c.1176G>C (p.Val392=)
n.611G>C
c.717G>C (p.Val239=)
c.1029G>C (p.Val343=)
c.726G>C (p.Val242=)
c.1173G>C (p.Val391=)
7g.99762118C>TCA163151540CYP3A4c.1176G>A (p.Val392=)
n.611G>A
c.717G>A (p.Val239=)
c.1029G>A (p.Val343=)
c.726G>A (p.Val242=)
c.1173G>A (p.Val391=)
dbSNP gnomAD v3 gnomAD v4
7g.99762119A>CCA368369033CYP3A4c.1175T>G (p.Val392Gly)
n.610T>G
c.716T>G (p.Val239Gly)
c.1028T>G (p.Val343Gly)
c.725T>G (p.Val242Gly)
c.1172T>G (p.Val391Gly)
7g.99762119A>GCA368369035CYP3A4c.1175T>C (p.Val392Ala)
n.610T>C
c.716T>C (p.Val239Ala)
c.1028T>C (p.Val343Ala)
c.725T>C (p.Val242Ala)
c.1172T>C (p.Val391Ala)
7g.99762119A>TCA368369037CYP3A4c.1175T>A (p.Val392Glu)
n.610T>A
c.716T>A (p.Val239Glu)
c.1028T>A (p.Val343Glu)
c.725T>A (p.Val242Glu)
c.1172T>A (p.Val391Glu)
7g.99762120C>ACA368369042CYP3A4c.1174G>T (p.Val392Leu)
n.609G>T
c.715G>T (p.Val239Leu)
c.1027G>T (p.Val343Leu)
c.724G>T (p.Val242Leu)
c.1171G>T (p.Val391Leu)
7g.99762120C=CA1729177318CYP3A4c.1174G= (p.Val392=)
n.609G=
c.715G= (p.Val239=)
c.1027G= (p.Val343=)
c.724G= (p.Val242=)
c.1171G= (p.Val391=)
7g.99762120C>GCA368369045CYP3A4c.1174G>C (p.Val392Leu)
n.609G>C
c.715G>C (p.Val239Leu)
c.1027G>C (p.Val343Leu)
c.724G>C (p.Val242Leu)
c.1171G>C (p.Val391Leu)
7g.99762120C>TCA4369546CYP3A4c.1174G>A (p.Val392Met)
n.609G>A
c.715G>A (p.Val239Met)
c.1027G>A (p.Val343Met)
c.724G>A (p.Val242Met)
c.1171G>A (p.Val391Met)
dbSNP ExAC gnomAD v2 gnomAD v4
7g.99762123delCA2683985524CYP3A4c.1174del (p.Val392TrpfsTer3)
n.609del
c.715del (p.Val239TrpfsTer3)
c.1027del (p.Val343TrpfsTer3)
c.724del (p.Val242TrpfsTer3)
c.1171del (p.Val391TrpfsTer3)
gnomAD v4
7g.99762121C>ACA456687173CYP3A4c.1173G>T (p.Gly391=)
n.608G>T
c.714G>T (p.Gly238=)
c.1026G>T (p.Gly342=)
c.723G>T (p.Gly241=)
c.1170G>T (p.Gly390=)
7g.99762121C>GCA456687174CYP3A4c.1173G>C (p.Gly391=)
n.608G>C
c.714G>C (p.Gly238=)
c.1026G>C (p.Gly342=)
c.723G>C (p.Gly241=)
c.1170G>C (p.Gly390=)
7g.99762121C>TCA456687175CYP3A4c.1173G>A (p.Gly391=)
n.608G>A
c.714G>A (p.Gly238=)
c.1026G>A (p.Gly342=)
c.723G>A (p.Gly241=)
c.1170G>A (p.Gly390=)
7g.99762122C>ACA368369048CYP3A4c.1172G>T (p.Gly391Val)
n.607G>T
c.713G>T (p.Gly238Val)
c.1025G>T (p.Gly342Val)
c.722G>T (p.Gly241Val)
c.1169G>T (p.Gly390Val)
gnomAD v4
7g.99762122C>GCA368369050CYP3A4c.1172G>C (p.Gly391Ala)
n.607G>C
c.713G>C (p.Gly238Ala)
c.1025G>C (p.Gly342Ala)
c.722G>C (p.Gly241Ala)
c.1169G>C (p.Gly390Ala)
7g.99762122C>TCA368369052CYP3A4c.1172G>A (p.Gly391Glu)
n.607G>A
c.713G>A (p.Gly238Glu)
c.1025G>A (p.Gly342Glu)
c.722G>A (p.Gly241Glu)
c.1169G>A (p.Gly390Glu)
gnomAD v4
7g.99762123C>ACA368369055CYP3A4c.1171G>T (p.Gly391Trp)
n.606G>T
c.712G>T (p.Gly238Trp)
c.1024G>T (p.Gly342Trp)
c.721G>T (p.Gly241Trp)
c.1168G>T (p.Gly390Trp)
7g.99762123C>GCA368369057CYP3A4c.1171G>C (p.Gly391Arg)
n.606G>C
c.712G>C (p.Gly238Arg)
c.1024G>C (p.Gly342Arg)
c.721G>C (p.Gly241Arg)
c.1168G>C (p.Gly390Arg)
7g.99762123C>TCA368369060CYP3A4c.1171G>A (p.Gly391Arg)
n.606G>A
c.712G>A (p.Gly238Arg)
c.1024G>A (p.Gly342Arg)
c.721G>A (p.Gly241Arg)
c.1168G>A (p.Gly390Arg)
gnomAD v4
7g.99762124T>ACA368369062CYP3A4c.1170A>T (p.Lys390Asn)
n.605A>T
c.711A>T (p.Lys237Asn)
c.1023A>T (p.Lys341Asn)
c.720A>T (p.Lys240Asn)
c.1167A>T (p.Lys389Asn)
7g.99762124T>CCA4369547CYP3A4c.1170A>G (p.Lys390=)
n.605A>G
c.711A>G (p.Lys237=)
c.1023A>G (p.Lys341=)
c.720A>G (p.Lys240=)
c.1167A>G (p.Lys389=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.99762124T>GCA368369066CYP3A4c.1170A>C (p.Lys390Asn)
n.605A>C
c.711A>C (p.Lys237Asn)
c.1023A>C (p.Lys341Asn)
c.720A>C (p.Lys240Asn)
c.1167A>C (p.Lys389Asn)
COSMIC
7g.99762124T=CA1729177319CYP3A4c.1170A= (p.Lys390=)
n.605A=
c.711A= (p.Lys237=)
c.1023A= (p.Lys341=)
c.720A= (p.Lys240=)
c.1167A= (p.Lys389=)
7g.99762125T>ACA368369069CYP3A4c.1169A>T (p.Lys390Ile)
n.604A>T
c.710A>T (p.Lys237Ile)
c.1022A>T (p.Lys341Ile)
c.719A>T (p.Lys240Ile)
c.1166A>T (p.Lys389Ile)
7g.99762125T>CCA368369072CYP3A4c.1169A>G (p.Lys390Arg)
n.604A>G
c.710A>G (p.Lys237Arg)
c.1022A>G (p.Lys341Arg)
c.719A>G (p.Lys240Arg)
c.1166A>G (p.Lys389Arg)
7g.99762125T>GCA368369074CYP3A4c.1169A>C (p.Lys390Thr)
n.604A>C
c.710A>C (p.Lys237Thr)
c.1022A>C (p.Lys341Thr)
c.719A>C (p.Lys240Thr)
c.1166A>C (p.Lys389Thr)
7g.99762126T>ACA368369079CYP3A4c.1168A>T (p.Lys390Ter)
n.603A>T
c.709A>T (p.Lys237Ter)
c.1021A>T (p.Lys341Ter)
c.718A>T (p.Lys240Ter)
c.1165A>T (p.Lys389Ter)
7g.99762126T>CCA368369081CYP3A4c.1168A>G (p.Lys390Glu)
n.603A>G
c.709A>G (p.Lys237Glu)
c.1021A>G (p.Lys341Glu)
c.718A>G (p.Lys240Glu)
c.1165A>G (p.Lys389Glu)
gnomAD v4
7g.99762126T>GCA368369077CYP3A4c.1168A>C (p.Lys390Gln)
n.603A>C
c.709A>C (p.Lys237Gln)
c.1021A>C (p.Lys341Gln)
c.718A>C (p.Lys240Gln)
c.1165A>C (p.Lys389Gln)
7g.99762127G>ACA456687176CYP3A4c.1167C>T (p.Pro389=)
n.602C>T
c.708C>T (p.Pro236=)
c.1020C>T (p.Pro340=)
c.717C>T (p.Pro239=)
c.1164C>T (p.Pro388=)
dbSNP gnomAD v3 gnomAD v4
7g.99762127G>CCA456687177CYP3A4c.1167C>G (p.Pro389=)
n.602C>G
c.708C>G (p.Pro236=)
c.1020C>G (p.Pro340=)
c.717C>G (p.Pro239=)
c.1164C>G (p.Pro388=)
7g.99762127G=CA1729177320CYP3A4c.1167C= (p.Pro389=)
n.602C=
c.708C= (p.Pro236=)
c.1020C= (p.Pro340=)
c.717C= (p.Pro239=)
c.1164C= (p.Pro388=)
7g.99762127G>TCA456687178CYP3A4c.1167C>A (p.Pro389=)
n.602C>A
c.708C>A (p.Pro236=)
c.1020C>A (p.Pro340=)
c.717C>A (p.Pro239=)
c.1164C>A (p.Pro388=)
7g.99762128G>ACA4369548CYP3A4c.1166C>T (p.Pro389Leu)
n.601C>T
c.707C>T (p.Pro236Leu)
c.1019C>T (p.Pro340Leu)
c.716C>T (p.Pro239Leu)
c.1163C>T (p.Pro388Leu)
dbSNP ExAC gnomAD v2 gnomAD v4
7g.99762128G>CCA368369086CYP3A4c.1166C>G (p.Pro389Arg)
n.601C>G
c.707C>G (p.Pro236Arg)
c.1019C>G (p.Pro340Arg)
c.716C>G (p.Pro239Arg)
c.1163C>G (p.Pro388Arg)
7g.99762128G=CA1729177321CYP3A4c.1166C= (p.Pro389=)
n.601C=
c.707C= (p.Pro236=)
c.1019C= (p.Pro340=)
c.716C= (p.Pro239=)
c.1163C= (p.Pro388=)
7g.99762128G>TCA368369088CYP3A4c.1166C>A (p.Pro389His)
n.601C>A
c.707C>A (p.Pro236His)
c.1019C>A (p.Pro340His)
c.716C>A (p.Pro239His)
c.1163C>A (p.Pro388His)
7g.99762129G>ACA4369549CYP3A4c.1165C>T (p.Pro389Ser)
n.600C>T
c.706C>T (p.Pro236Ser)
c.1018C>T (p.Pro340Ser)
c.715C>T (p.Pro239Ser)
c.1162C>T (p.Pro388Ser)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.99762129G>CCA368369092CYP3A4c.1165C>G (p.Pro389Ala)
n.600C>G
c.706C>G (p.Pro236Ala)
c.1018C>G (p.Pro340Ala)
c.715C>G (p.Pro239Ala)
c.1162C>G (p.Pro388Ala)
7g.99762129G=CA1729177322CYP3A4c.1165C= (p.Pro389=)
n.600C=
c.706C= (p.Pro236=)
c.1018C= (p.Pro340=)
c.715C= (p.Pro239=)
c.1162C= (p.Pro388=)
7g.99762129G>TCA368369095CYP3A4c.1165C>A (p.Pro389Thr)
n.600C>A
c.706C>A (p.Pro236Thr)
c.1018C>A (p.Pro340Thr)
c.715C>A (p.Pro239Thr)
c.1162C>A (p.Pro388Thr)
7g.99762130A>CCA368369096CYP3A4c.1164T>G (p.Ile388Met)
n.599T>G
c.705T>G (p.Ile235Met)
c.1017T>G (p.Ile339Met)
c.714T>G (p.Ile238Met)
c.1161T>G (p.Ile387Met)
7g.99762130A>GCA456687179CYP3A4c.1164T>C (p.Ile388=)
n.599T>C
c.705T>C (p.Ile235=)
c.1017T>C (p.Ile339=)
c.714T>C (p.Ile238=)
c.1161T>C (p.Ile387=)
7g.99762130A>TCA456687180CYP3A4c.1164T>A (p.Ile388=)
n.599T>A
c.705T>A (p.Ile235=)
c.1017T>A (p.Ile339=)
c.714T>A (p.Ile238=)
c.1161T>A (p.Ile387=)
7g.99762131A>CCA368369097CYP3A4c.1163T>G (p.Ile388Ser)
n.598T>G
c.704T>G (p.Ile235Ser)
c.1016T>G (p.Ile339Ser)
c.713T>G (p.Ile238Ser)
c.1160T>G (p.Ile387Ser)
7g.99762131A>GCA368369098CYP3A4c.1163T>C (p.Ile388Thr)
n.598T>C
c.704T>C (p.Ile235Thr)
c.1016T>C (p.Ile339Thr)
c.713T>C (p.Ile238Thr)
c.1160T>C (p.Ile387Thr)
7g.99762131A>TCA368369099CYP3A4c.1163T>A (p.Ile388Asn)
n.598T>A
c.704T>A (p.Ile235Asn)
c.1016T>A (p.Ile339Asn)
c.713T>A (p.Ile238Asn)
c.1160T>A (p.Ile387Asn)
7g.99762132T>ACA368369101CYP3A4c.1162A>T (p.Ile388Phe)
n.597A>T
c.703A>T (p.Ile235Phe)
c.1015A>T (p.Ile339Phe)
c.712A>T (p.Ile238Phe)
c.1159A>T (p.Ile387Phe)
dbSNP gnomAD v2 gnomAD v4
7g.99762132T>CCA368369102CYP3A4c.1162A>G (p.Ile388Val)
n.597A>G
c.703A>G (p.Ile235Val)
c.1015A>G (p.Ile339Val)
c.712A>G (p.Ile238Val)
c.1159A>G (p.Ile387Val)
7g.99762132T>GCA368369104CYP3A4c.1162A>C (p.Ile388Leu)
n.597A>C
c.703A>C (p.Ile235Leu)
c.1015A>C (p.Ile339Leu)
c.712A>C (p.Ile238Leu)
c.1159A>C (p.Ile387Leu)
7g.99762132T=CA1729177323CYP3A4c.1162A= (p.Ile388=)
n.597A=
c.703A= (p.Ile235=)
c.1015A= (p.Ile339=)
c.712A= (p.Ile238=)
c.1159A= (p.Ile387=)
7g.99762133G>ACA4369550CYP3A4c.1161C>T (p.Phe387=)
n.596C>T
c.702C>T (p.Phe234=)
c.1014C>T (p.Phe338=)
c.711C>T (p.Phe237=)
c.1158C>T (p.Phe386=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.99762133G>CCA368369108CYP3A4c.1161C>G (p.Phe387Leu)
n.596C>G
c.702C>G (p.Phe234Leu)
c.1014C>G (p.Phe338Leu)
c.711C>G (p.Phe237Leu)
c.1158C>G (p.Phe386Leu)
7g.99762133G=CA1729177324CYP3A4c.1161C= (p.Phe387=)
n.596C=
c.702C= (p.Phe234=)
c.1014C= (p.Phe338=)
c.711C= (p.Phe237=)
c.1158C= (p.Phe386=)
7g.99762133G>TCA368369107CYP3A4c.1161C>A (p.Phe387Leu)
n.596C>A
c.702C>A (p.Phe234Leu)
c.1014C>A (p.Phe338Leu)
c.711C>A (p.Phe237Leu)
c.1158C>A (p.Phe386Leu)
7g.99762134A>CCA368369112CYP3A4c.1160T>G (p.Phe387Cys)
n.595T>G
c.701T>G (p.Phe234Cys)
c.1013T>G (p.Phe338Cys)
c.710T>G (p.Phe237Cys)
c.1157T>G (p.Phe386Cys)
7g.99762134A>GCA368369115CYP3A4c.1160T>C (p.Phe387Ser)
n.595T>C
c.701T>C (p.Phe234Ser)
c.1013T>C (p.Phe338Ser)
c.710T>C (p.Phe237Ser)
c.1157T>C (p.Phe386Ser)
7g.99762134A>TCA368369113CYP3A4c.1160T>A (p.Phe387Tyr)
n.595T>A
c.701T>A (p.Phe234Tyr)
c.1013T>A (p.Phe338Tyr)
c.710T>A (p.Phe237Tyr)
c.1157T>A (p.Phe386Tyr)
7g.99762135A>CCA368369117CYP3A4c.1159T>G (p.Phe387Val)
n.594T>G
c.700T>G (p.Phe234Val)
c.1012T>G (p.Phe338Val)
c.709T>G (p.Phe237Val)
c.1156T>G (p.Phe386Val)
7g.99762135A>GCA368369121CYP3A4c.1159T>C (p.Phe387Leu)
n.594T>C
c.700T>C (p.Phe234Leu)
c.1012T>C (p.Phe338Leu)
c.709T>C (p.Phe237Leu)
c.1156T>C (p.Phe386Leu)
7g.99762135A>TCA368369119CYP3A4c.1159T>A (p.Phe387Ile)
n.594T>A
c.700T>A (p.Phe234Ile)
c.1012T>A (p.Phe338Ile)
c.709T>A (p.Phe237Ile)
c.1156T>A (p.Phe386Ile)
7g.99762136C>ACA368369124CYP3A4c.1158G>T (p.Met386Ile)
n.593G>T
c.699G>T (p.Met233Ile)
c.1011G>T (p.Met337Ile)
c.708G>T (p.Met236Ile)
c.1155G>T (p.Met385Ile)
7g.99762136C=CA1729177325CYP3A4c.1158G= (p.Met386=)
n.593G=
c.699G= (p.Met233=)
c.1011G= (p.Met337=)
c.708G= (p.Met236=)
c.1155G= (p.Met385=)
7g.99762136C>GCA368369125CYP3A4c.1158G>C (p.Met386Ile)
n.593G>C
c.699G>C (p.Met233Ile)
c.1011G>C (p.Met337Ile)
c.708G>C (p.Met236Ile)
c.1155G>C (p.Met385Ile)
7g.99762136C>TCA368369128CYP3A4c.1158G>A (p.Met386Ile)
n.593G>A
c.699G>A (p.Met233Ile)
c.1011G>A (p.Met337Ile)
c.708G>A (p.Met236Ile)
c.1155G>A (p.Met385Ile)
dbSNP gnomAD v3 gnomAD v4
7g.99762137A>CCA368369131CYP3A4c.1157T>G (p.Met386Arg)
n.592T>G
c.698T>G (p.Met233Arg)
c.1010T>G (p.Met337Arg)
c.707T>G (p.Met236Arg)
c.1154T>G (p.Met385Arg)
7g.99762137A>GCA368369133CYP3A4c.1157T>C (p.Met386Thr)
n.592T>C
c.698T>C (p.Met233Thr)
c.1010T>C (p.Met337Thr)
c.707T>C (p.Met236Thr)
c.1154T>C (p.Met385Thr)
7g.99762137A>TCA368369136CYP3A4c.1157T>A (p.Met386Lys)
n.592T>A
c.698T>A (p.Met233Lys)
c.1010T>A (p.Met337Lys)
c.707T>A (p.Met236Lys)
c.1154T>A (p.Met385Lys)
7g.99762138T>ACA368369139CYP3A4c.1156A>T (p.Met386Leu)
n.591A>T
c.697A>T (p.Met233Leu)
c.1009A>T (p.Met337Leu)
c.706A>T (p.Met236Leu)
c.1153A>T (p.Met385Leu)
7g.99762138T>CCA368369142CYP3A4c.1156A>G (p.Met386Val)
n.591A>G
c.697A>G (p.Met233Val)
c.1009A>G (p.Met337Val)
c.706A>G (p.Met236Val)
c.1153A>G (p.Met385Val)
7g.99762138T>GCA368369144CYP3A4c.1156A>C (p.Met386Leu)
n.591A>C
c.697A>C (p.Met233Leu)
c.1009A>C (p.Met337Leu)
c.706A>C (p.Met236Leu)
c.1153A>C (p.Met385Leu)
gnomAD v4
7g.99762139C>ACA456687183CYP3A4c.1155G>T (p.Gly385=)
n.590G>T
c.696G>T (p.Gly232=)
c.1008G>T (p.Gly336=)
c.705G>T (p.Gly235=)
c.1152G>T (p.Gly384=)
7g.99762139C>GCA456687182CYP3A4c.1155G>C (p.Gly385=)
n.590G>C
c.696G>C (p.Gly232=)
c.1008G>C (p.Gly336=)
c.705G>C (p.Gly235=)
c.1152G>C (p.Gly384=)
7g.99762139C>TCA456687181CYP3A4c.1155G>A (p.Gly385=)
n.590G>A
c.696G>A (p.Gly232=)
c.1008G>A (p.Gly336=)
c.705G>A (p.Gly235=)
c.1152G>A (p.Gly384=)
COSMIC
7g.99762140C>ACA368369148CYP3A4c.1154G>T (p.Gly385Val)
n.589G>T
c.695G>T (p.Gly232Val)
c.1007G>T (p.Gly336Val)
c.704G>T (p.Gly235Val)
c.1151G>T (p.Gly384Val)
gnomAD v4
7g.99762140C>GCA368369150CYP3A4c.1154G>C (p.Gly385Ala)
n.589G>C
c.695G>C (p.Gly232Ala)
c.1007G>C (p.Gly336Ala)
c.704G>C (p.Gly235Ala)
c.1151G>C (p.Gly384Ala)
dbSNP gnomAD v4
7g.99762140C>TCA368369151CYP3A4c.1154G>A (p.Gly385Glu)
n.589G>A
c.695G>A (p.Gly232Glu)
c.1007G>A (p.Gly336Glu)
c.704G>A (p.Gly235Glu)
c.1151G>A (p.Gly384Glu)
ClinVar gnomAD v3 gnomAD v4
7g.99762141C>ACA368369153CYP3A4c.1153G>T (p.Gly385Trp)
n.588G>T
c.694G>T (p.Gly232Trp)
c.1006G>T (p.Gly336Trp)
c.703G>T (p.Gly235Trp)
c.1150G>T (p.Gly384Trp)
7g.99762141C>GCA368369157CYP3A4c.1153G>C (p.Gly385Arg)
n.588G>C
c.694G>C (p.Gly232Arg)
c.1006G>C (p.Gly336Arg)
c.703G>C (p.Gly235Arg)
c.1150G>C (p.Gly384Arg)
7g.99762141C>TCA368369155CYP3A4c.1153G>A (p.Gly385Arg)
n.588G>A
c.694G>A (p.Gly232Arg)
c.1006G>A (p.Gly336Arg)
c.703G>A (p.Gly235Arg)
c.1150G>A (p.Gly384Arg)
7g.99762142A>CCA368369160CYP3A4c.1152T>G (p.Asn384Lys)
n.587T>G
c.693T>G (p.Asn231Lys)
c.1005T>G (p.Asn335Lys)
c.702T>G (p.Asn234Lys)
c.1149T>G (p.Asn383Lys)
7g.99762142A>GCA456687184CYP3A4c.1152T>C (p.Asn384=)
n.587T>C
c.693T>C (p.Asn231=)
c.1005T>C (p.Asn335=)
c.702T>C (p.Asn234=)
c.1149T>C (p.Asn383=)
7g.99762142A>TCA368369162CYP3A4c.1152T>A (p.Asn384Lys)
n.587T>A
c.693T>A (p.Asn231Lys)
c.1005T>A (p.Asn335Lys)
c.702T>A (p.Asn234Lys)
c.1149T>A (p.Asn383Lys)
7g.99762143T>ACA368369165CYP3A4c.1151A>T (p.Asn384Ile)
n.586A>T
c.692A>T (p.Asn231Ile)
c.1004A>T (p.Asn335Ile)
c.701A>T (p.Asn234Ile)
c.1148A>T (p.Asn383Ile)
7g.99762143T>CCA368369167CYP3A4c.1151A>G (p.Asn384Ser)
n.586A>G
c.692A>G (p.Asn231Ser)
c.1004A>G (p.Asn335Ser)
c.701A>G (p.Asn234Ser)
c.1148A>G (p.Asn383Ser)
gnomAD v4
7g.99762143T>GCA368369169CYP3A4c.1151A>C (p.Asn384Thr)
n.586A>C
c.692A>C (p.Asn231Thr)
c.1004A>C (p.Asn335Thr)
c.701A>C (p.Asn234Thr)
c.1148A>C (p.Asn383Thr)
7g.99762144T>ACA368369170CYP3A4c.1150A>T (p.Asn384Tyr)
n.585A>T
c.691A>T (p.Asn231Tyr)
c.1003A>T (p.Asn335Tyr)
c.700A>T (p.Asn234Tyr)
c.1147A>T (p.Asn383Tyr)
7g.99762144T>CCA368369172CYP3A4c.1150A>G (p.Asn384Asp)
n.585A>G
c.691A>G (p.Asn231Asp)
c.1003A>G (p.Asn335Asp)
c.700A>G (p.Asn234Asp)
c.1147A>G (p.Asn383Asp)
7g.99762144T>GCA368369174CYP3A4c.1150A>C (p.Asn384His)
n.585A>C
c.691A>C (p.Asn231His)
c.1003A>C (p.Asn335His)
c.700A>C (p.Asn234His)
c.1147A>C (p.Asn383His)
7g.99762145G>ACA456687185CYP3A4c.1149C>T (p.Ile383=)
n.584C>T
c.690C>T (p.Ile230=)
c.1002C>T (p.Ile334=)
c.699C>T (p.Ile233=)
c.1146C>T (p.Ile382=)
gnomAD v4 COSMIC
7g.99762145G>CCA368369176CYP3A4c.1149C>G (p.Ile383Met)
n.584C>G
c.690C>G (p.Ile230Met)
c.1002C>G (p.Ile334Met)
c.699C>G (p.Ile233Met)
c.1146C>G (p.Ile382Met)
7g.99762145G>TCA456687186CYP3A4c.1149C>A (p.Ile383=)
n.584C>A
c.690C>A (p.Ile230=)
c.1002C>A (p.Ile334=)
c.699C>A (p.Ile233=)
c.1146C>A (p.Ile382=)
7g.99762146A>CCA368369179CYP3A4c.1148T>G (p.Ile383Ser)
n.583T>G
c.689T>G (p.Ile230Ser)
c.1001T>G (p.Ile334Ser)
c.698T>G (p.Ile233Ser)
c.1145T>G (p.Ile382Ser)
7g.99762146A>GCA368369181CYP3A4c.1148T>C (p.Ile383Thr)
n.583T>C
c.689T>C (p.Ile230Thr)
c.1001T>C (p.Ile334Thr)
c.698T>C (p.Ile233Thr)
c.1145T>C (p.Ile382Thr)
7g.99762146A>TCA368369177CYP3A4c.1148T>A (p.Ile383Asn)
n.583T>A
c.689T>A (p.Ile230Asn)
c.1001T>A (p.Ile334Asn)
c.698T>A (p.Ile233Asn)
c.1145T>A (p.Ile382Asn)
gnomAD v4
7g.99762147T>ACA368369184CYP3A4c.1147A>T (p.Ile383Phe)
n.582A>T
c.688A>T (p.Ile230Phe)
c.1000A>T (p.Ile334Phe)
c.697A>T (p.Ile233Phe)
c.1144A>T (p.Ile382Phe)
7g.99762147T>CCA368369186CYP3A4c.1147A>G (p.Ile383Val)
n.582A>G
c.688A>G (p.Ile230Val)
c.1000A>G (p.Ile334Val)
c.697A>G (p.Ile233Val)
c.1144A>G (p.Ile382Val)
7g.99762147T>GCA368369188CYP3A4c.1147A>C (p.Ile383Leu)
n.582A>C
c.688A>C (p.Ile230Leu)
c.1000A>C (p.Ile334Leu)
c.697A>C (p.Ile233Leu)
c.1144A>C (p.Ile382Leu)
7g.99762148C>ACA368369191CYP3A4c.1146G>T (p.Glu382Asp)
n.581G>T
c.687G>T (p.Glu229Asp)
c.999G>T (p.Glu333Asp)
c.696G>T (p.Glu232Asp)
c.1143G>T (p.Glu381Asp)
7g.99762148C=CA1729177326CYP3A4c.1146G= (p.Glu382=)
n.581G=
c.687G= (p.Glu229=)
c.999G= (p.Glu333=)
c.696G= (p.Glu232=)
c.1143G= (p.Glu381=)
7g.99762148C>GCA4369551CYP3A4c.1146G>C (p.Glu382Asp)
n.581G>C
c.687G>C (p.Glu229Asp)
c.999G>C (p.Glu333Asp)
c.696G>C (p.Glu232Asp)
c.1143G>C (p.Glu381Asp)
dbSNP ExAC gnomAD v2 gnomAD v4
7g.99762148C>TCA4369552CYP3A4c.1146G>A (p.Glu382=)
n.581G>A
c.687G>A (p.Glu229=)
c.999G>A (p.Glu333=)
c.696G>A (p.Glu232=)
c.1143G>A (p.Glu381=)
dbSNP ExAC gnomAD v2 gnomAD v4
7g.99762149T>ACA368369197CYP3A4c.1145A>T (p.Glu382Val)
n.580A>T
c.686A>T (p.Glu229Val)
c.998A>T (p.Glu333Val)
c.695A>T (p.Glu232Val)
c.1142A>T (p.Glu381Val)
7g.99762149T>CCA368369198CYP3A4c.1145A>G (p.Glu382Gly)
n.580A>G
c.686A>G (p.Glu229Gly)
c.998A>G (p.Glu333Gly)
c.695A>G (p.Glu232Gly)
c.1142A>G (p.Glu381Gly)
7g.99762149T>GCA368369201CYP3A4c.1145A>C (p.Glu382Ala)
n.580A>C
c.686A>C (p.Glu229Ala)
c.998A>C (p.Glu333Ala)
c.695A>C (p.Glu232Ala)
c.1142A>C (p.Glu381Ala)
gnomAD v4
7g.99762150C>ACA368369204CYP3A4c.1144G>T (p.Glu382Ter)
n.579G>T
c.685G>T (p.Glu229Ter)
c.997G>T (p.Glu333Ter)
c.694G>T (p.Glu232Ter)
c.1141G>T (p.Glu381Ter)
7g.99762150C>GCA368369206CYP3A4c.1144G>C (p.Glu382Gln)
n.579G>C
c.685G>C (p.Glu229Gln)
c.997G>C (p.Glu333Gln)
c.694G>C (p.Glu232Gln)
c.1141G>C (p.Glu381Gln)
7g.99762150C>TCA368369207CYP3A4c.1144G>A (p.Glu382Lys)
n.579G>A
c.685G>A (p.Glu229Lys)
c.997G>A (p.Glu333Lys)
c.694G>A (p.Glu232Lys)
c.1141G>A (p.Glu381Lys)
7g.99762151A>CCA456687187CYP3A4c.1143T>G (p.Val381=)
n.578T>G
c.684T>G (p.Val228=)
c.996T>G (p.Val332=)
c.693T>G (p.Val231=)
c.1140T>G (p.Val380=)
gnomAD v4
7g.99762151A>GCA456687188CYP3A4c.1143T>C (p.Val381=)
n.578T>C
c.684T>C (p.Val228=)
c.996T>C (p.Val332=)
c.693T>C (p.Val231=)
c.1140T>C (p.Val380=)
7g.99762151A>TCA456687189CYP3A4c.1143T>A (p.Val381=)
n.578T>A
c.684T>A (p.Val228=)
c.996T>A (p.Val332=)
c.693T>A (p.Val231=)
c.1140T>A (p.Val380=)
7g.99762152A>CCA368369211CYP3A4c.1142T>G (p.Val381Gly)
n.577T>G
c.683T>G (p.Val228Gly)
c.995T>G (p.Val332Gly)
c.692T>G (p.Val231Gly)
c.1139T>G (p.Val380Gly)
7g.99762152A>GCA368369214CYP3A4c.1142T>C (p.Val381Ala)
n.577T>C
c.683T>C (p.Val228Ala)
c.995T>C (p.Val332Ala)
c.692T>C (p.Val231Ala)
c.1139T>C (p.Val380Ala)
7g.99762152A>TCA368369210CYP3A4c.1142T>A (p.Val381Asp)
n.577T>A
c.683T>A (p.Val228Asp)
c.995T>A (p.Val332Asp)
c.692T>A (p.Val231Asp)
c.1139T>A (p.Val380Asp)
7g.99762153C>ACA368369217CYP3A4c.1141G>T (p.Val381Phe)
n.576G>T
c.682G>T (p.Val228Phe)
c.994G>T (p.Val332Phe)
c.691G>T (p.Val231Phe)
c.1138G>T (p.Val380Phe)
7g.99762153C>GCA368369219CYP3A4c.1141G>C (p.Val381Leu)
n.576G>C
c.682G>C (p.Val228Leu)
c.994G>C (p.Val332Leu)
c.691G>C (p.Val231Leu)
c.1138G>C (p.Val380Leu)
7g.99762153C>TCA368369221CYP3A4c.1141G>A (p.Val381Ile)
n.576G>A
c.682G>A (p.Val228Ile)
c.994G>A (p.Val332Ile)
c.691G>A (p.Val231Ile)
c.1138G>A (p.Val380Ile)
7g.99762154A=CA1729177327CYP3A4c.1140T= (p.Asp380=)
n.575T=
c.681T= (p.Asp227=)
c.993T= (p.Asp331=)
c.690T= (p.Asp230=)
c.1137T= (p.Asp379=)
7g.99762154A>CCA368369223CYP3A4c.1140T>G (p.Asp380Glu)
n.575T>G
c.681T>G (p.Asp227Glu)
c.993T>G (p.Asp331Glu)
c.690T>G (p.Asp230Glu)
c.1137T>G (p.Asp379Glu)
7g.99762154A>GCA456687190CYP3A4c.1140T>C (p.Asp380=)
n.575T>C
c.681T>C (p.Asp227=)
c.993T>C (p.Asp331=)
c.690T>C (p.Asp230=)
c.1137T>C (p.Asp379=)
dbSNP gnomAD v3 gnomAD v4
7g.99762154A>TCA368369225CYP3A4c.1140T>A (p.Asp380Glu)
n.575T>A
c.681T>A (p.Asp227Glu)
c.993T>A (p.Asp331Glu)
c.690T>A (p.Asp230Glu)
c.1137T>A (p.Asp379Glu)
7g.99762155T>ACA368369232CYP3A4c.1139A>T (p.Asp380Val)
n.574A>T
c.680A>T (p.Asp227Val)
c.992A>T (p.Asp331Val)
c.689A>T (p.Asp230Val)
c.1136A>T (p.Asp379Val)
7g.99762155T>CCA368369228CYP3A4c.1139A>G (p.Asp380Gly)
n.574A>G
c.680A>G (p.Asp227Gly)
c.992A>G (p.Asp331Gly)
c.689A>G (p.Asp230Gly)
c.1136A>G (p.Asp379Gly)
7g.99762155T>GCA368369230CYP3A4c.1139A>C (p.Asp380Ala)
n.574A>C
c.680A>C (p.Asp227Ala)
c.992A>C (p.Asp331Ala)
c.689A>C (p.Asp230Ala)
c.1136A>C (p.Asp379Ala)
7g.99762156C>ACA368369236CYP3A4c.1138G>T (p.Asp380Tyr)
n.573G>T
c.679G>T (p.Asp227Tyr)
c.991G>T (p.Asp331Tyr)
c.688G>T (p.Asp230Tyr)
c.1135G>T (p.Asp379Tyr)
COSMIC
7g.99762156C>GCA368369238CYP3A4c.1138G>C (p.Asp380His)
n.573G>C
c.679G>C (p.Asp227His)
c.991G>C (p.Asp331His)
c.688G>C (p.Asp230His)
c.1135G>C (p.Asp379His)
COSMIC
7g.99762156C>TCA368369240CYP3A4c.1138G>A (p.Asp380Asn)
n.573G>A
c.679G>A (p.Asp227Asn)
c.991G>A (p.Asp331Asn)
c.688G>A (p.Asp230Asn)
c.1135G>A (p.Asp379Asn)
7g.99762156_99762157delinsCTCA1729177328CYP3A4c.1137_1138delinsAG (p.Lys379=)
n.572_573delinsAG
c.678_679delinsAG (p.Lys226=)
c.990_991delinsAG (p.Lys330=)
c.687_688delinsAG (p.Lys229=)
c.1134_1135delinsAG (p.Lys378=)
7g.99762157T>ACA368369243CYP3A4c.1137A>T (p.Lys379Asn)
n.572A>T
c.678A>T (p.Lys226Asn)
c.990A>T (p.Lys330Asn)
c.687A>T (p.Lys229Asn)
c.1134A>T (p.Lys378Asn)
7g.99762157T>CCA456687191CYP3A4c.1137A>G (p.Lys379=)
n.572A>G
c.678A>G (p.Lys226=)
c.990A>G (p.Lys330=)
c.687A>G (p.Lys229=)
c.1134A>G (p.Lys378=)
7g.99762157T>GCA368369245CYP3A4c.1137A>C (p.Lys379Asn)
n.572A>C
c.678A>C (p.Lys226Asn)
c.990A>C (p.Lys330Asn)
c.687A>C (p.Lys229Asn)
c.1134A>C (p.Lys378Asn)
7g.99762162dupCA1729177329CYP3A4c.1137dup (p.Asp380ArgfsTer3)
n.572dup
c.678dup (p.Asp227ArgfsTer3)
c.990dup (p.Asp331ArgfsTer3)
c.687dup (p.Asp230ArgfsTer3)
c.1134dup (p.Asp379ArgfsTer3)
dbSNP gnomAD v4
7g.99762162delCA844511139CYP3A4c.1137del (p.Asp380MetfsTer15)
n.572del
c.678del (p.Asp227MetfsTer15)
c.990del (p.Asp331MetfsTer15)
c.687del (p.Asp230MetfsTer15)
c.1134del (p.Asp379MetfsTer15)
dbSNP gnomAD v4
7g.99762158T>ACA368369251CYP3A4c.1136A>T (p.Lys379Ile)
n.571A>T
c.677A>T (p.Lys226Ile)
c.989A>T (p.Lys330Ile)
c.686A>T (p.Lys229Ile)
c.1133A>T (p.Lys378Ile)
7g.99762158T>CCA368369249CYP3A4c.1136A>G (p.Lys379Arg)
n.571A>G
c.677A>G (p.Lys226Arg)
c.989A>G (p.Lys330Arg)
c.686A>G (p.Lys229Arg)
c.1133A>G (p.Lys378Arg)
dbSNP gnomAD v3 gnomAD v4
7g.99762158T>GCA368369246CYP3A4c.1136A>C (p.Lys379Thr)
n.571A>C
c.677A>C (p.Lys226Thr)
c.989A>C (p.Lys330Thr)
c.686A>C (p.Lys229Thr)
c.1133A>C (p.Lys378Thr)
7g.99762158T=CA1729177330CYP3A4c.1136A= (p.Lys379=)
n.571A=
c.677A= (p.Lys226=)
c.989A= (p.Lys330=)
c.686A= (p.Lys229=)
c.1133A= (p.Lys378=)
7g.99762159T>ACA368369254CYP3A4c.1135A>T (p.Lys379Ter)
n.570A>T
c.676A>T (p.Lys226Ter)
c.988A>T (p.Lys330Ter)
c.685A>T (p.Lys229Ter)
c.1132A>T (p.Lys378Ter)
7g.99762159T>CCA368369257CYP3A4c.1135A>G (p.Lys379Glu)
n.570A>G
c.676A>G (p.Lys226Glu)
c.988A>G (p.Lys330Glu)
c.685A>G (p.Lys229Glu)
c.1132A>G (p.Lys378Glu)
7g.99762159T>GCA368369256CYP3A4c.1135A>C (p.Lys379Gln)
n.570A>C
c.676A>C (p.Lys226Gln)
c.988A>C (p.Lys330Gln)
c.685A>C (p.Lys229Gln)
c.1132A>C (p.Lys378Gln)
7g.99762160T>ACA368369258CYP3A4c.1134A>T (p.Lys378Asn)
n.569A>T
c.675A>T (p.Lys225Asn)
c.987A>T (p.Lys329Asn)
c.684A>T (p.Lys228Asn)
c.1131A>T (p.Lys377Asn)
7g.99762160T>CCA456687192CYP3A4c.1134A>G (p.Lys378=)
n.569A>G
c.675A>G (p.Lys225=)
c.987A>G (p.Lys329=)
c.684A>G (p.Lys228=)
c.1131A>G (p.Lys377=)
7g.99762160T>GCA368369259CYP3A4c.1134A>C (p.Lys378Asn)
n.569A>C
c.675A>C (p.Lys225Asn)
c.987A>C (p.Lys329Asn)
c.684A>C (p.Lys228Asn)
c.1131A>C (p.Lys377Asn)
7g.99762161T>ACA368369260CYP3A4c.1133A>T (p.Lys378Ile)
n.568A>T
c.674A>T (p.Lys225Ile)
c.986A>T (p.Lys329Ile)
c.683A>T (p.Lys228Ile)
c.1130A>T (p.Lys377Ile)
7g.99762161T>CCA368369261CYP3A4c.1133A>G (p.Lys378Arg)
n.568A>G
c.674A>G (p.Lys225Arg)
c.986A>G (p.Lys329Arg)
c.683A>G (p.Lys228Arg)
c.1130A>G (p.Lys377Arg)
gnomAD v4
7g.99762161T>GCA368369262CYP3A4c.1133A>C (p.Lys378Thr)
n.568A>C
c.674A>C (p.Lys225Thr)
c.986A>C (p.Lys329Thr)
c.683A>C (p.Lys228Thr)
c.1130A>C (p.Lys377Thr)
7g.99762162T>ACA368369263CYP3A4c.1132A>T (p.Lys378Ter)
n.567A>T
c.673A>T (p.Lys225Ter)
c.985A>T (p.Lys329Ter)
c.682A>T (p.Lys228Ter)
c.1129A>T (p.Lys377Ter)
7g.99762162T>CCA368369264CYP3A4c.1132A>G (p.Lys378Glu)
n.567A>G
c.673A>G (p.Lys225Glu)
c.985A>G (p.Lys329Glu)
c.682A>G (p.Lys228Glu)
c.1129A>G (p.Lys377Glu)
7g.99762162T>GCA368369265CYP3A4c.1132A>C (p.Lys378Gln)
n.567A>C
c.673A>C (p.Lys225Gln)
c.985A>C (p.Lys329Gln)
c.682A>C (p.Lys228Gln)
c.1129A>C (p.Lys377Gln)
gnomAD v4
7g.99762163G>ACA456687193CYP3A4c.1131C>T (p.Cys377=)
n.566C>T
c.672C>T (p.Cys224=)
c.984C>T (p.Cys328=)
c.681C>T (p.Cys227=)
c.1128C>T (p.Cys376=)
7g.99762163G>CCA368369266CYP3A4c.1131C>G (p.Cys377Trp)
n.566C>G
c.672C>G (p.Cys224Trp)
c.984C>G (p.Cys328Trp)
c.681C>G (p.Cys227Trp)
c.1128C>G (p.Cys376Trp)
7g.99762163G>TCA368369267CYP3A4c.1131C>A (p.Cys377Ter)
n.566C>A
c.672C>A (p.Cys224Ter)
c.984C>A (p.Cys328Ter)
c.681C>A (p.Cys227Ter)
c.1128C>A (p.Cys376Ter)
7g.99762164C>ACA368369270CYP3A4c.1130G>T (p.Cys377Phe)
n.565G>T
c.671G>T (p.Cys224Phe)
c.983G>T (p.Cys328Phe)
c.680G>T (p.Cys227Phe)
c.1127G>T (p.Cys376Phe)
7g.99762164C>GCA368369269CYP3A4c.1130G>C (p.Cys377Ser)
n.565G>C
c.671G>C (p.Cys224Ser)
c.983G>C (p.Cys328Ser)
c.680G>C (p.Cys227Ser)
c.1127G>C (p.Cys376Ser)
7g.99762164C>TCA368369268CYP3A4c.1130G>A (p.Cys377Tyr)
n.565G>A
c.671G>A (p.Cys224Tyr)
c.983G>A (p.Cys328Tyr)
c.680G>A (p.Cys227Tyr)
c.1127G>A (p.Cys376Tyr)
7g.99762165A>CCA368369271CYP3A4c.1129T>G (p.Cys377Gly)
n.564T>G
c.670T>G (p.Cys224Gly)
c.982T>G (p.Cys328Gly)
c.679T>G (p.Cys227Gly)
c.1126T>G (p.Cys376Gly)
7g.99762165A>GCA368369272CYP3A4c.1129T>C (p.Cys377Arg)
n.564T>C
c.670T>C (p.Cys224Arg)
c.982T>C (p.Cys328Arg)
c.679T>C (p.Cys227Arg)
c.1126T>C (p.Cys376Arg)
7g.99762165A>TCA368369273CYP3A4c.1129T>A (p.Cys377Ser)
n.564T>A
c.670T>A (p.Cys224Ser)
c.982T>A (p.Cys328Ser)
c.679T>A (p.Cys227Ser)
c.1126T>A (p.Cys376Ser)
7g.99762166G>ACA456687194CYP3A4c.1128C>T (p.Val376=)
n.563C>T
c.669C>T (p.Val223=)
c.981C>T (p.Val327=)
c.678C>T (p.Val226=)
c.1125C>T (p.Val375=)
7g.99762166G>CCA4369553CYP3A4c.1128C>G (p.Val376=)
n.563C>G
c.669C>G (p.Val223=)
c.981C>G (p.Val327=)
c.678C>G (p.Val226=)
c.1125C>G (p.Val375=)
dbSNP ExAC gnomAD v2 gnomAD v4
7g.99762166G=CA1729177331CYP3A4c.1128C= (p.Val376=)
n.563C=
c.669C= (p.Val223=)
c.981C= (p.Val327=)
c.678C= (p.Val226=)
c.1125C= (p.Val375=)
7g.99762166G>TCA456687195CYP3A4c.1128C>A (p.Val376=)
n.563C>A
c.669C>A (p.Val223=)
c.981C>A (p.Val327=)
c.678C>A (p.Val226=)
c.1125C>A (p.Val375=)
7g.99762167A>CCA368369274CYP3A4c.1127T>G (p.Val376Gly)
n.562T>G
c.668T>G (p.Val223Gly)
c.980T>G (p.Val327Gly)
c.677T>G (p.Val226Gly)
c.1124T>G (p.Val375Gly)
7g.99762167A>GCA368369275CYP3A4c.1127T>C (p.Val376Ala)
n.562T>C
c.668T>C (p.Val223Ala)
c.980T>C (p.Val327Ala)
c.677T>C (p.Val226Ala)
c.1124T>C (p.Val375Ala)
7g.99762167A>TCA368369276CYP3A4c.1127T>A (p.Val376Asp)
n.562T>A
c.668T>A (p.Val223Asp)
c.980T>A (p.Val327Asp)
c.677T>A (p.Val226Asp)
c.1124T>A (p.Val375Asp)
7g.99762168C>ACA368369277CYP3A4c.1126G>T (p.Val376Phe)
n.561G>T
c.667G>T (p.Val223Phe)
c.979G>T (p.Val327Phe)
c.676G>T (p.Val226Phe)
c.1123G>T (p.Val375Phe)
7g.99762168C>GCA368369278CYP3A4c.1126G>C (p.Val376Leu)
n.561G>C
c.667G>C (p.Val223Leu)
c.979G>C (p.Val327Leu)
c.676G>C (p.Val226Leu)
c.1123G>C (p.Val375Leu)
7g.99762168C>TCA368369279CYP3A4c.1126G>A (p.Val376Ile)
n.561G>A
c.667G>A (p.Val223Ile)
c.979G>A (p.Val327Ile)
c.676G>A (p.Val226Ile)
c.1123G>A (p.Val375Ile)
7g.99762170delCA2578955113CYP3A4c.1126del (p.Val376SerfsTer19)
n.561del
c.667del (p.Val223SerfsTer19)
c.979del (p.Val327SerfsTer19)
c.676del (p.Val226SerfsTer19)
c.1123del (p.Val375SerfsTer19)
7g.99762169C>ACA368369280CYP3A4c.1125G>T (p.Arg375Ser)
n.560G>T
c.666G>T (p.Arg222Ser)
c.978G>T (p.Arg326Ser)
c.675G>T (p.Arg225Ser)
c.1122G>T (p.Arg374Ser)
7g.99762169C=CA1729177332CYP3A4c.1125G= (p.Arg375=)
n.560G=
c.666G= (p.Arg222=)
c.978G= (p.Arg326=)
c.675G= (p.Arg225=)
c.1122G= (p.Arg374=)
7g.99762169C>GCA368369281CYP3A4c.1125G>C (p.Arg375Ser)
n.560G>C
c.666G>C (p.Arg222Ser)
c.978G>C (p.Arg326Ser)
c.675G>C (p.Arg225Ser)
c.1122G>C (p.Arg374Ser)
dbSNP
7g.99762169C>TCA456687196CYP3A4c.1125G>A (p.Arg375=)
n.560G>A
c.666G>A (p.Arg222=)
c.978G>A (p.Arg326=)
c.675G>A (p.Arg225=)
c.1122G>A (p.Arg374=)
7g.99762170C>ACA368369283CYP3A4c.1124G>T (p.Arg375Met)
n.559G>T
c.665G>T (p.Arg222Met)
c.977G>T (p.Arg326Met)
c.674G>T (p.Arg225Met)
c.1121G>T (p.Arg374Met)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.99762170C=CA1729177333CYP3A4c.1124G= (p.Arg375=)
n.559G=
c.665G= (p.Arg222=)
c.977G= (p.Arg326=)
c.674G= (p.Arg225=)
c.1121G= (p.Arg374=)
7g.99762170C>GCA368369284CYP3A4c.1124G>C (p.Arg375Thr)
n.559G>C
c.665G>C (p.Arg222Thr)
c.977G>C (p.Arg326Thr)
c.674G>C (p.Arg225Thr)
c.1121G>C (p.Arg374Thr)
7g.99762170C>TCA368369282CYP3A4c.1124G>A (p.Arg375Lys)
n.559G>A
c.665G>A (p.Arg222Lys)
c.977G>A (p.Arg326Lys)
c.674G>A (p.Arg225Lys)
c.1121G>A (p.Arg374Lys)
dbSNP gnomAD v3 gnomAD v4
7g.99762171T>ACA368369285CYP3A4c.1123A>T (p.Arg375Trp)
n.558A>T
c.664A>T (p.Arg222Trp)
c.976A>T (p.Arg326Trp)
c.673A>T (p.Arg225Trp)
c.1120A>T (p.Arg374Trp)
7g.99762171T>CCA368369286CYP3A4c.1123A>G (p.Arg375Gly)
n.558A>G
c.664A>G (p.Arg222Gly)
c.976A>G (p.Arg326Gly)
c.673A>G (p.Arg225Gly)
c.1120A>G (p.Arg374Gly)
7g.99762171T>GCA456687197CYP3A4c.1123A>C (p.Arg375=)
n.558A>C
c.664A>C (p.Arg222=)
c.976A>C (p.Arg326=)
c.673A>C (p.Arg225=)
c.1120A>C (p.Arg374=)
gnomAD v4
7g.99762172C>ACA368369287CYP3A4c.1122G>T (p.Glu374Asp)
n.557G>T
c.663G>T (p.Glu221Asp)
c.975G>T (p.Glu325Asp)
c.672G>T (p.Glu224Asp)
c.1119G>T (p.Glu373Asp)
7g.99762172C=CA1729177334CYP3A4c.1122G= (p.Glu374=)
n.557G=
c.663G= (p.Glu221=)
c.975G= (p.Glu325=)
c.672G= (p.Glu224=)
c.1119G= (p.Glu373=)
7g.99762172C>GCA368369288CYP3A4c.1122G>C (p.Glu374Asp)
n.557G>C
c.663G>C (p.Glu221Asp)
c.975G>C (p.Glu325Asp)
c.672G>C (p.Glu224Asp)
c.1119G>C (p.Glu373Asp)
dbSNP gnomAD v2 gnomAD v4
7g.99762172C>TCA456687198CYP3A4c.1122G>A (p.Glu374=)
n.557G>A
c.663G>A (p.Glu221=)
c.975G>A (p.Glu325=)
c.672G>A (p.Glu224=)
c.1119G>A (p.Glu373=)
7g.99762173T>ACA368369289CYP3A4c.1121A>T (p.Glu374Val)
n.556A>T
c.662A>T (p.Glu221Val)
c.974A>T (p.Glu325Val)
c.671A>T (p.Glu224Val)
c.1118A>T (p.Glu373Val)
7g.99762173T>CCA368369290CYP3A4c.1121A>G (p.Glu374Gly)
n.556A>G
c.662A>G (p.Glu221Gly)
c.974A>G (p.Glu325Gly)
c.671A>G (p.Glu224Gly)
c.1118A>G (p.Glu373Gly)
7g.99762173T>GCA368369293CYP3A4c.1121A>C (p.Glu374Ala)
n.556A>C
c.662A>C (p.Glu221Ala)
c.974A>C (p.Glu325Ala)
c.671A>C (p.Glu224Ala)
c.1118A>C (p.Glu373Ala)
7g.99762174C>ACA368369296CYP3A4c.1120G>T (p.Glu374Ter)
n.555G>T
c.661G>T (p.Glu221Ter)
c.973G>T (p.Glu325Ter)
c.670G>T (p.Glu224Ter)
c.1117G>T (p.Glu373Ter)
7g.99762174C=CA1729177335CYP3A4c.1120G= (p.Glu374=)
n.555G=
c.661G= (p.Glu221=)
c.973G= (p.Glu325=)
c.670G= (p.Glu224=)
c.1117G= (p.Glu373=)
7g.99762174C>GCA368369298CYP3A4c.1120G>C (p.Glu374Gln)
n.555G>C
c.661G>C (p.Glu221Gln)
c.973G>C (p.Glu325Gln)
c.670G>C (p.Glu224Gln)
c.1117G>C (p.Glu373Gln)
dbSNP gnomAD v3 gnomAD v4
7g.99762174C>TCA368369299CYP3A4c.1120G>A (p.Glu374Lys)
n.555G>A
c.661G>A (p.Glu221Lys)
c.973G>A (p.Glu325Lys)
c.670G>A (p.Glu224Lys)
c.1117G>A (p.Glu373Lys)
gnomAD v4
7g.99762175A>CCA456687199CYP3A4c.1119T>G (p.Leu373=)
n.554T>G
c.660T>G (p.Leu220=)
c.972T>G (p.Leu324=)
c.669T>G (p.Leu223=)
c.1116T>G (p.Leu372=)
7g.99762175A>GCA456687200CYP3A4c.1119T>C (p.Leu373=)
n.554T>C
c.660T>C (p.Leu220=)
c.972T>C (p.Leu324=)
c.669T>C (p.Leu223=)
c.1116T>C (p.Leu372=)
7g.99762175A>TCA456687201CYP3A4c.1119T>A (p.Leu373=)
n.554T>A
c.660T>A (p.Leu220=)
c.972T>A (p.Leu324=)
c.669T>A (p.Leu223=)
c.1116T>A (p.Leu372=)
7g.99762176A>CCA368369301CYP3A4c.1118T>G (p.Leu373Arg)
n.553T>G
c.659T>G (p.Leu220Arg)
c.971T>G (p.Leu324Arg)
c.668T>G (p.Leu223Arg)
c.1115T>G (p.Leu372Arg)
7g.99762176A>GCA368369303CYP3A4c.1118T>C (p.Leu373Pro)
n.553T>C
c.659T>C (p.Leu220Pro)
c.971T>C (p.Leu324Pro)
c.668T>C (p.Leu223Pro)
c.1115T>C (p.Leu372Pro)
7g.99762176A>TCA368369305CYP3A4c.1118T>A (p.Leu373His)
n.553T>A
c.659T>A (p.Leu220His)
c.971T>A (p.Leu324His)
c.668T>A (p.Leu223His)
c.1115T>A (p.Leu372His)
7g.99762177G>ACA4369554CYP3A4c.1117C>T (p.Leu373Phe)
n.552C>T
c.658C>T (p.Leu220Phe)
c.970C>T (p.Leu324Phe)
c.667C>T (p.Leu223Phe)
c.1114C>T (p.Leu372Phe)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.99762177G>CCA368369309CYP3A4c.1117C>G (p.Leu373Val)
n.552C>G
c.658C>G (p.Leu220Val)
c.970C>G (p.Leu324Val)
c.667C>G (p.Leu223Val)
c.1114C>G (p.Leu372Val)
7g.99762177G=CA1729177336CYP3A4c.1117C= (p.Leu373=)
n.552C=
c.658C= (p.Leu220=)
c.970C= (p.Leu324=)
c.667C= (p.Leu223=)
c.1114C= (p.Leu372=)
7g.99762177G>TCA368369307CYP3A4c.1117C>A (p.Leu373Ile)
n.552C>A
c.658C>A (p.Leu220Ile)
c.970C>A (p.Leu324Ile)
c.667C>A (p.Leu223Ile)
c.1114C>A (p.Leu372Ile)

Number of alleles fetched