Chr Mutation (hg38) CAid Gene Transcript Linkouts
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.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)
7g.99762178T>ACA368369314CYP3A4c.1116A>T (p.Arg372Ser)
n.551A>T
c.657A>T (p.Arg219Ser)
c.969A>T (p.Arg323Ser)
c.666A>T (p.Arg222Ser)
c.1113A>T (p.Arg371Ser)
7g.99762178T>CCA456687202CYP3A4c.1116A>G (p.Arg372=)
n.551A>G
c.657A>G (p.Arg219=)
c.969A>G (p.Arg323=)
c.666A>G (p.Arg222=)
c.1113A>G (p.Arg371=)
7g.99762178T>GCA368369315CYP3A4c.1116A>C (p.Arg372Ser)
n.551A>C
c.657A>C (p.Arg219Ser)
c.969A>C (p.Arg323Ser)
c.666A>C (p.Arg222Ser)
c.1113A>C (p.Arg371Ser)
7g.99762179C>ACA4369555CYP3A4c.1115G>T (p.Arg372Ile)
n.550G>T
c.656G>T (p.Arg219Ile)
c.968G>T (p.Arg323Ile)
c.665G>T (p.Arg222Ile)
c.1112G>T (p.Arg371Ile)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.99762179C=CA1729177337CYP3A4c.1115G= (p.Arg372=)
n.550G=
c.656G= (p.Arg219=)
c.968G= (p.Arg323=)
c.665G= (p.Arg222=)
c.1112G= (p.Arg371=)
7g.99762179C>GCA4369556CYP3A4c.1115G>C (p.Arg372Thr)
n.550G>C
c.656G>C (p.Arg219Thr)
c.968G>C (p.Arg323Thr)
c.665G>C (p.Arg222Thr)
c.1112G>C (p.Arg371Thr)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.99762179C>TCA368369316CYP3A4c.1115G>A (p.Arg372Lys)
n.550G>A
c.656G>A (p.Arg219Lys)
c.968G>A (p.Arg323Lys)
c.665G>A (p.Arg222Lys)
c.1112G>A (p.Arg371Lys)
7g.99762180T>ACA368369317CYP3A4c.1114A>T (p.Arg372Ter)
n.549A>T
c.655A>T (p.Arg219Ter)
c.967A>T (p.Arg323Ter)
c.664A>T (p.Arg222Ter)
c.1111A>T (p.Arg371Ter)
7g.99762180T>CCA368369318CYP3A4c.1114A>G (p.Arg372Gly)
n.549A>G
c.655A>G (p.Arg219Gly)
c.967A>G (p.Arg323Gly)
c.664A>G (p.Arg222Gly)
c.1111A>G (p.Arg371Gly)
dbSNP gnomAD v2 gnomAD v4
7g.99762180T>GCA456687203CYP3A4c.1114A>C (p.Arg372=)
n.549A>C
c.655A>C (p.Arg219=)
c.967A>C (p.Arg323=)
c.664A>C (p.Arg222=)
c.1111A>C (p.Arg371=)
7g.99762180T=CA1729177338CYP3A4c.1114A= (p.Arg372=)
n.549A=
c.655A= (p.Arg219=)
c.967A= (p.Arg323=)
c.664A= (p.Arg222=)
c.1111A= (p.Arg371=)
7g.99762181C>ACA368369319CYP3A4c.1113G>T (p.Met371Ile)
n.548G>T
c.654G>T (p.Met218Ile)
c.966G>T (p.Met322Ile)
c.663G>T (p.Met221Ile)
c.1110G>T (p.Met370Ile)
7g.99762181C>GCA368369320CYP3A4c.1113G>C (p.Met371Ile)
n.548G>C
c.654G>C (p.Met218Ile)
c.966G>C (p.Met322Ile)
c.663G>C (p.Met221Ile)
c.1110G>C (p.Met370Ile)
7g.99762181C>TCA368369323CYP3A4c.1113G>A (p.Met371Ile)
n.548G>A
c.654G>A (p.Met218Ile)
c.966G>A (p.Met322Ile)
c.663G>A (p.Met221Ile)
c.1110G>A (p.Met370Ile)
7g.99762182A=CA1729177339CYP3A4c.1112T= (p.Met371=)
n.547T=
c.653T= (p.Met218=)
c.965T= (p.Met322=)
c.662T= (p.Met221=)
c.1109T= (p.Met370=)
7g.99762182A>CCA368369325CYP3A4c.1112T>G (p.Met371Arg)
n.547T>G
c.653T>G (p.Met218Arg)
c.965T>G (p.Met322Arg)
c.662T>G (p.Met221Arg)
c.1109T>G (p.Met370Arg)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.99762182A>GCA368369327CYP3A4c.1112T>C (p.Met371Thr)
n.547T>C
c.653T>C (p.Met218Thr)
c.965T>C (p.Met322Thr)
c.662T>C (p.Met221Thr)
c.1109T>C (p.Met370Thr)
gnomAD v4
7g.99762182A>TCA368369329CYP3A4c.1112T>A (p.Met371Lys)
n.547T>A
c.653T>A (p.Met218Lys)
c.965T>A (p.Met322Lys)
c.662T>A (p.Met221Lys)
c.1109T>A (p.Met370Lys)
7g.99762183T>ACA368369334CYP3A4c.1111A>T (p.Met371Leu)
n.546A>T
c.652A>T (p.Met218Leu)
c.964A>T (p.Met322Leu)
c.661A>T (p.Met221Leu)
c.1108A>T (p.Met370Leu)
7g.99762183T>CCA368369336CYP3A4c.1111A>G (p.Met371Val)
n.546A>G
c.652A>G (p.Met218Val)
c.964A>G (p.Met322Val)
c.661A>G (p.Met221Val)
c.1108A>G (p.Met370Val)
7g.99762183T>GCA368369332CYP3A4c.1111A>C (p.Met371Leu)
n.546A>C
c.652A>C (p.Met218Leu)
c.964A>C (p.Met322Leu)
c.661A>C (p.Met221Leu)
c.1108A>C (p.Met370Leu)
7g.99762184A=CA1729177340CYP3A4c.1110T= (p.Ala370=)
n.545T=
c.651T= (p.Ala217=)
c.963T= (p.Ala321=)
c.660T= (p.Ala220=)
c.1107T= (p.Ala369=)
7g.99762184A>CCA456687204CYP3A4c.1110T>G (p.Ala370=)
n.545T>G
c.651T>G (p.Ala217=)
c.963T>G (p.Ala321=)
c.660T>G (p.Ala220=)
c.1107T>G (p.Ala369=)
7g.99762184A>GCA4369557CYP3A4c.1110T>C (p.Ala370=)
n.545T>C
c.651T>C (p.Ala217=)
c.963T>C (p.Ala321=)
c.660T>C (p.Ala220=)
c.1107T>C (p.Ala369=)
dbSNP ExAC gnomAD v2 gnomAD v4
7g.99762184A>TCA456687205CYP3A4c.1110T>A (p.Ala370=)
n.545T>A
c.651T>A (p.Ala217=)
c.963T>A (p.Ala321=)
c.660T>A (p.Ala220=)
c.1107T>A (p.Ala369=)
7g.99762185G>ACA368369342CYP3A4c.1109C>T (p.Ala370Val)
n.544C>T
c.650C>T (p.Ala217Val)
c.962C>T (p.Ala321Val)
c.659C>T (p.Ala220Val)
c.1106C>T (p.Ala369Val)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
7g.99762185G>CCA368369341CYP3A4c.1109C>G (p.Ala370Gly)
n.544C>G
c.650C>G (p.Ala217Gly)
c.962C>G (p.Ala321Gly)
c.659C>G (p.Ala220Gly)
c.1106C>G (p.Ala369Gly)
7g.99762185G=CA1729177341CYP3A4c.1109C= (p.Ala370=)
n.544C=
c.650C= (p.Ala217=)
c.962C= (p.Ala321=)
c.659C= (p.Ala220=)
c.1106C= (p.Ala369=)
7g.99762185G>TCA368369344CYP3A4c.1109C>A (p.Ala370Asp)
n.544C>A
c.650C>A (p.Ala217Asp)
c.962C>A (p.Ala321Asp)
c.659C>A (p.Ala220Asp)
c.1106C>A (p.Ala369Asp)
7g.99762186C>ACA4369558CYP3A4c.1108G>T (p.Ala370Ser)
n.543G>T
c.649G>T (p.Ala217Ser)
c.961G>T (p.Ala321Ser)
c.658G>T (p.Ala220Ser)
c.1105G>T (p.Ala369Ser)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.99762186C=CA1729177342CYP3A4c.1108G= (p.Ala370=)
n.543G=
c.649G= (p.Ala217=)
c.961G= (p.Ala321=)
c.658G= (p.Ala220=)
c.1105G= (p.Ala369=)
7g.99762186C>GCA368369350CYP3A4c.1108G>C (p.Ala370Pro)
n.543G>C
c.649G>C (p.Ala217Pro)
c.961G>C (p.Ala321Pro)
c.658G>C (p.Ala220Pro)
c.1105G>C (p.Ala369Pro)
7g.99762186C>TCA368369348CYP3A4c.1108G>A (p.Ala370Thr)
n.543G>A
c.649G>A (p.Ala217Thr)
c.961G>A (p.Ala321Thr)
c.658G>A (p.Ala220Thr)
c.1105G>A (p.Ala369Thr)
7g.99762187A=CA1729177343CYP3A4c.1107T= (p.Ile369=)
n.542T=
c.648T= (p.Ile216=)
c.960T= (p.Ile320=)
c.657T= (p.Ile219=)
c.1104T= (p.Ile368=)
7g.99762187A>CCA368369352CYP3A4c.1107T>G (p.Ile369Met)
n.542T>G
c.648T>G (p.Ile216Met)
c.960T>G (p.Ile320Met)
c.657T>G (p.Ile219Met)
c.1104T>G (p.Ile368Met)
7g.99762187A>GCA456687207CYP3A4c.1107T>C (p.Ile369=)
n.542T>C
c.648T>C (p.Ile216=)
c.960T>C (p.Ile320=)
c.657T>C (p.Ile219=)
c.1104T>C (p.Ile368=)
dbSNP gnomAD v2 gnomAD v4
7g.99762187A>TCA456687206CYP3A4c.1107T>A (p.Ile369=)
n.542T>A
c.648T>A (p.Ile216=)
c.960T>A (p.Ile320=)
c.657T>A (p.Ile219=)
c.1104T>A (p.Ile368=)
7g.99762188A=CA1729177344CYP3A4c.1106T= (p.Ile369=)
n.541T=
c.647T= (p.Ile216=)
c.959T= (p.Ile320=)
c.656T= (p.Ile219=)
c.1103T= (p.Ile368=)
7g.99762188A>CCA368369355CYP3A4c.1106T>G (p.Ile369Ser)
n.541T>G
c.647T>G (p.Ile216Ser)
c.959T>G (p.Ile320Ser)
c.656T>G (p.Ile219Ser)
c.1103T>G (p.Ile368Ser)
7g.99762188A>GCA368369356CYP3A4c.1106T>C (p.Ile369Thr)
n.541T>C
c.647T>C (p.Ile216Thr)
c.959T>C (p.Ile320Thr)
c.656T>C (p.Ile219Thr)
c.1103T>C (p.Ile368Thr)
7g.99762188A>TCA368369358CYP3A4c.1106T>A (p.Ile369Asn)
n.541T>A
c.647T>A (p.Ile216Asn)
c.959T>A (p.Ile320Asn)
c.656T>A (p.Ile219Asn)
c.1103T>A (p.Ile368Asn)
dbSNP
7g.99762189T>ACA368369361CYP3A4c.1105A>T (p.Ile369Phe)
n.540A>T
c.646A>T (p.Ile216Phe)
c.958A>T (p.Ile320Phe)
c.655A>T (p.Ile219Phe)
c.1102A>T (p.Ile368Phe)
7g.99762189T>CCA4369559CYP3A4c.1105A>G (p.Ile369Val)
n.540A>G
c.646A>G (p.Ile216Val)
c.958A>G (p.Ile320Val)
c.655A>G (p.Ile219Val)
c.1102A>G (p.Ile368Val)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.99762189T>GCA368369364CYP3A4c.1105A>C (p.Ile369Leu)
n.540A>C
c.646A>C (p.Ile216Leu)
c.958A>C (p.Ile320Leu)
c.655A>C (p.Ile219Leu)
c.1102A>C (p.Ile368Leu)
7g.99762189T=CA1729177345CYP3A4c.1105A= (p.Ile369=)
n.540A=
c.646A= (p.Ile216=)
c.958A= (p.Ile320=)
c.655A= (p.Ile219=)
c.1102A= (p.Ile368=)
7g.99762190T>ACA456687210CYP3A4c.1104A>T (p.Pro368=)
n.539A>T
c.645A>T (p.Pro215=)
c.957A>T (p.Pro319=)
c.654A>T (p.Pro218=)
c.1101A>T (p.Pro367=)
7g.99762190T>CCA456687209CYP3A4c.1104A>G (p.Pro368=)
n.539A>G
c.645A>G (p.Pro215=)
c.957A>G (p.Pro319=)
c.654A>G (p.Pro218=)
c.1101A>G (p.Pro367=)
dbSNP gnomAD v2 gnomAD v4
7g.99762190T>GCA456687208CYP3A4c.1104A>C (p.Pro368=)
n.539A>C
c.645A>C (p.Pro215=)
c.957A>C (p.Pro319=)
c.654A>C (p.Pro218=)
c.1101A>C (p.Pro367=)
7g.99762190T=CA1729177346CYP3A4c.1104A= (p.Pro368=)
n.539A=
c.645A= (p.Pro215=)
c.957A= (p.Pro319=)
c.654A= (p.Pro218=)
c.1101A= (p.Pro367=)
7g.99762191G>ACA368369368CYP3A4c.1103C>T (p.Pro368Leu)
n.538C>T
c.644C>T (p.Pro215Leu)
c.956C>T (p.Pro319Leu)
c.653C>T (p.Pro218Leu)
c.1100C>T (p.Pro367Leu)
dbSNP gnomAD v3 gnomAD v4
7g.99762191G>CCA368369370CYP3A4c.1103C>G (p.Pro368Arg)
n.538C>G
c.644C>G (p.Pro215Arg)
c.956C>G (p.Pro319Arg)
c.653C>G (p.Pro218Arg)
c.1100C>G (p.Pro367Arg)
7g.99762191G=CA1729177347CYP3A4c.1103C= (p.Pro368=)
n.538C=
c.644C= (p.Pro215=)
c.956C= (p.Pro319=)
c.653C= (p.Pro218=)
c.1100C= (p.Pro367=)
7g.99762191G>TCA368369372CYP3A4c.1103C>A (p.Pro368Gln)
n.538C>A
c.644C>A (p.Pro215Gln)
c.956C>A (p.Pro319Gln)
c.653C>A (p.Pro218Gln)
c.1100C>A (p.Pro367Gln)
7g.99762192G>ACA368369374CYP3A4c.1102C>T (p.Pro368Ser)
n.537C>T
c.643C>T (p.Pro215Ser)
c.955C>T (p.Pro319Ser)
c.652C>T (p.Pro218Ser)
c.1099C>T (p.Pro367Ser)
COSMIC
7g.99762192G>CCA368369377CYP3A4c.1102C>G (p.Pro368Ala)
n.537C>G
c.643C>G (p.Pro215Ala)
c.955C>G (p.Pro319Ala)
c.652C>G (p.Pro218Ala)
c.1099C>G (p.Pro367Ala)
7g.99762192G>TCA368369379CYP3A4c.1102C>A (p.Pro368Thr)
n.537C>A
c.643C>A (p.Pro215Thr)
c.955C>A (p.Pro319Thr)
c.652C>A (p.Pro218Thr)
c.1099C>A (p.Pro367Thr)
7g.99762193G>ACA456687211CYP3A4c.1101C>T (p.Phe367=)
n.536C>T
c.642C>T (p.Phe214=)
c.954C>T (p.Phe318=)
c.651C>T (p.Phe217=)
c.1098C>T (p.Phe366=)
dbSNP COSMIC
7g.99762193G>CCA368369383CYP3A4c.1101C>G (p.Phe367Leu)
n.536C>G
c.642C>G (p.Phe214Leu)
c.954C>G (p.Phe318Leu)
c.651C>G (p.Phe217Leu)
c.1098C>G (p.Phe366Leu)
7g.99762193G=CA1729177348CYP3A4c.1101C= (p.Phe367=)
n.536C=
c.642C= (p.Phe214=)
c.954C= (p.Phe318=)
c.651C= (p.Phe217=)
c.1098C= (p.Phe366=)
7g.99762193G>TCA368369381CYP3A4c.1101C>A (p.Phe367Leu)
n.536C>A
c.642C>A (p.Phe214Leu)
c.954C>A (p.Phe318Leu)
c.651C>A (p.Phe217Leu)
c.1098C>A (p.Phe366Leu)
7g.99762194A>CCA368369386CYP3A4c.1100T>G (p.Phe367Cys)
n.535T>G
c.641T>G (p.Phe214Cys)
c.953T>G (p.Phe318Cys)
c.650T>G (p.Phe217Cys)
c.1097T>G (p.Phe366Cys)
7g.99762194A>GCA368369387CYP3A4c.1100T>C (p.Phe367Ser)
n.535T>C
c.641T>C (p.Phe214Ser)
c.953T>C (p.Phe318Ser)
c.650T>C (p.Phe217Ser)
c.1097T>C (p.Phe366Ser)
7g.99762194A>TCA368369390CYP3A4c.1100T>A (p.Phe367Tyr)
n.535T>A
c.641T>A (p.Phe214Tyr)
c.953T>A (p.Phe318Tyr)
c.650T>A (p.Phe217Tyr)
c.1097T>A (p.Phe366Tyr)
7g.99762195A>CCA368369392CYP3A4c.1099T>G (p.Phe367Val)
n.534T>G
c.640T>G (p.Phe214Val)
c.952T>G (p.Phe318Val)
c.649T>G (p.Phe217Val)
c.1096T>G (p.Phe366Val)
7g.99762195A>GCA368369394CYP3A4c.1099T>C (p.Phe367Leu)
n.534T>C
c.640T>C (p.Phe214Leu)
c.952T>C (p.Phe318Leu)
c.649T>C (p.Phe217Leu)
c.1096T>C (p.Phe366Leu)
7g.99762195A>TCA368369396CYP3A4c.1099T>A (p.Phe367Ile)
n.534T>A
c.640T>A (p.Phe214Ile)
c.952T>A (p.Phe318Ile)
c.649T>A (p.Phe217Ile)
c.1096T>A (p.Phe366Ile)
7g.99762196T>ACA368369398CYP3A4c.1098A>T (p.Leu366Phe)
n.533A>T
c.639A>T (p.Leu213Phe)
c.951A>T (p.Leu317Phe)
c.648A>T (p.Leu216Phe)
c.1095A>T (p.Leu365Phe)
7g.99762196T>CCA456687212CYP3A4c.1098A>G (p.Leu366=)
n.533A>G
c.639A>G (p.Leu213=)
c.951A>G (p.Leu317=)
c.648A>G (p.Leu216=)
c.1095A>G (p.Leu365=)
7g.99762196T>GCA368369399CYP3A4c.1098A>C (p.Leu366Phe)
n.533A>C
c.639A>C (p.Leu213Phe)
c.951A>C (p.Leu317Phe)
c.648A>C (p.Leu216Phe)
c.1095A>C (p.Leu365Phe)
7g.99762197A>CCA368369401CYP3A4c.1097T>G (p.Leu366Ter)
n.532T>G
c.638T>G (p.Leu213Ter)
c.950T>G (p.Leu317Ter)
c.647T>G (p.Leu216Ter)
c.1094T>G (p.Leu365Ter)
7g.99762197A>GCA368369402CYP3A4c.1097T>C (p.Leu366Ser)
n.532T>C
c.638T>C (p.Leu213Ser)
c.950T>C (p.Leu317Ser)
c.647T>C (p.Leu216Ser)
c.1094T>C (p.Leu365Ser)
7g.99762197A>TCA368369404CYP3A4c.1097T>A (p.Leu366Ter)
n.532T>A
c.638T>A (p.Leu213Ter)
c.950T>A (p.Leu317Ter)
c.647T>A (p.Leu216Ter)
c.1094T>A (p.Leu365Ter)
7g.99762198A>CCA368369407CYP3A4c.1096T>G (p.Leu366Val)
n.531T>G
c.637T>G (p.Leu213Val)
c.949T>G (p.Leu317Val)
c.646T>G (p.Leu216Val)
c.1093T>G (p.Leu365Val)
7g.99762198A>GCA456687213CYP3A4c.1096T>C (p.Leu366=)
n.531T>C
c.637T>C (p.Leu213=)
c.949T>C (p.Leu317=)
c.646T>C (p.Leu216=)
c.1093T>C (p.Leu365=)
7g.99762198A>TCA368369409CYP3A4c.1096T>A (p.Leu366Ile)
n.531T>A
c.637T>A (p.Leu213Ile)
c.949T>A (p.Leu317Ile)
c.646T>A (p.Leu216Ile)
c.1093T>A (p.Leu365Ile)
7g.99762199T>ACA368369412CYP3A4c.1095A>T (p.Arg365Ser)
n.530A>T
c.636A>T (p.Arg212Ser)
c.948A>T (p.Arg316Ser)
c.645A>T (p.Arg215Ser)
c.1092A>T (p.Arg364Ser)
7g.99762199T>CCA456687214CYP3A4c.1095A>G (p.Arg365=)
n.530A>G
c.636A>G (p.Arg212=)
c.948A>G (p.Arg316=)
c.645A>G (p.Arg215=)
c.1092A>G (p.Arg364=)
7g.99762199T>GCA368369413CYP3A4c.1095A>C (p.Arg365Ser)
n.530A>C
c.636A>C (p.Arg212Ser)
c.948A>C (p.Arg316Ser)
c.645A>C (p.Arg215Ser)
c.1092A>C (p.Arg364Ser)
7g.99762200C>ACA368369416CYP3A4c.1094G>T (p.Arg365Ile)
n.529G>T
c.635G>T (p.Arg212Ile)
c.947G>T (p.Arg316Ile)
c.644G>T (p.Arg215Ile)
c.1091G>T (p.Arg364Ile)
gnomAD v4
7g.99762200C=CA1729177349CYP3A4c.1094G= (p.Arg365=)
n.529G=
c.635G= (p.Arg212=)
c.947G= (p.Arg316=)
c.644G= (p.Arg215=)
c.1091G= (p.Arg364=)
7g.99762200C>GCA368369418CYP3A4c.1094G>C (p.Arg365Thr)
n.529G>C
c.635G>C (p.Arg212Thr)
c.947G>C (p.Arg316Thr)
c.644G>C (p.Arg215Thr)
c.1091G>C (p.Arg364Thr)
dbSNP gnomAD v3 gnomAD v4
7g.99762200C>TCA368369420CYP3A4c.1094G>A (p.Arg365Lys)
n.529G>A
c.635G>A (p.Arg212Lys)
c.947G>A (p.Arg316Lys)
c.644G>A (p.Arg215Lys)
c.1091G>A (p.Arg364Lys)
7g.99762201T>ACA368369423CYP3A4c.1093A>T (p.Arg365Ter)
n.528A>T
c.634A>T (p.Arg212Ter)
c.946A>T (p.Arg316Ter)
c.643A>T (p.Arg215Ter)
c.1090A>T (p.Arg364Ter)
7g.99762201T>CCA368369425CYP3A4c.1093A>G (p.Arg365Gly)
n.528A>G
c.634A>G (p.Arg212Gly)
c.946A>G (p.Arg316Gly)
c.643A>G (p.Arg215Gly)
c.1090A>G (p.Arg364Gly)
7g.99762201T>GCA456687215CYP3A4c.1093A>C (p.Arg365=)
n.528A>C
c.634A>C (p.Arg212=)
c.946A>C (p.Arg316=)
c.643A>C (p.Arg215=)
c.1090A>C (p.Arg364=)
dbSNP gnomAD v3 gnomAD v4
7g.99762201T=CA1729177350CYP3A4c.1093A= (p.Arg365=)
n.528A=
c.634A= (p.Arg212=)
c.946A= (p.Arg316=)
c.643A= (p.Arg215=)
c.1090A= (p.Arg364=)
7g.99762201_99762205delinsTGAGCCA1729177351CYP3A4c.1089_1093delinsGCTCA (p.Thr363=)
n.524_528delinsGCTCA
c.630_634delinsGCTCA (p.Thr210=)
c.942_946delinsGCTCA (p.Thr314=)
c.639_643delinsGCTCA (p.Thr213=)
c.1086_1090delinsGCTCA (p.Thr362=)
7g.99762202G>ACA456687216CYP3A4c.1092C>T (p.Leu364=)
n.527C>T
c.633C>T (p.Leu211=)
c.945C>T (p.Leu315=)
c.642C>T (p.Leu214=)
c.1089C>T (p.Leu363=)
7g.99762202G>CCA456687217CYP3A4c.1092C>G (p.Leu364=)
n.527C>G
c.633C>G (p.Leu211=)
c.945C>G (p.Leu315=)
c.642C>G (p.Leu214=)
c.1089C>G (p.Leu363=)
gnomAD v4
7g.99762202G>TCA456687218CYP3A4c.1092C>A (p.Leu364=)
n.527C>A
c.633C>A (p.Leu211=)
c.945C>A (p.Leu315=)
c.642C>A (p.Leu214=)
c.1089C>A (p.Leu363=)
7g.99762203_99762206delCA4369560CYP3A4c.1089_1092del (p.Leu364AspfsTer7)
n.524_527del
c.630_633del (p.Leu211AspfsTer7)
c.942_945del (p.Leu315AspfsTer7)
c.639_642del (p.Leu214AspfsTer7)
c.1086_1089del (p.Leu363AspfsTer7)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.99762203A>CCA368369429CYP3A4c.1091T>G (p.Leu364Arg)
n.526T>G
c.632T>G (p.Leu211Arg)
c.944T>G (p.Leu315Arg)
c.641T>G (p.Leu214Arg)
c.1088T>G (p.Leu363Arg)
7g.99762203A>GCA368369430CYP3A4c.1091T>C (p.Leu364Pro)
n.526T>C
c.632T>C (p.Leu211Pro)
c.944T>C (p.Leu315Pro)
c.641T>C (p.Leu214Pro)
c.1088T>C (p.Leu363Pro)
7g.99762203A>TCA368369432CYP3A4c.1091T>A (p.Leu364His)
n.526T>A
c.632T>A (p.Leu211His)
c.944T>A (p.Leu315His)
c.641T>A (p.Leu214His)
c.1088T>A (p.Leu363His)
7g.99762204G>ACA368369435CYP3A4c.1090C>T (p.Leu364Phe)
n.525C>T
c.631C>T (p.Leu211Phe)
c.943C>T (p.Leu315Phe)
c.640C>T (p.Leu214Phe)
c.1087C>T (p.Leu363Phe)
dbSNP gnomAD v3 gnomAD v4
7g.99762204G>CCA368369436CYP3A4c.1090C>G (p.Leu364Val)
n.525C>G
c.631C>G (p.Leu211Val)
c.943C>G (p.Leu315Val)
c.640C>G (p.Leu214Val)
c.1087C>G (p.Leu363Val)
7g.99762204G=CA1729177352CYP3A4c.1090C= (p.Leu364=)
n.525C=
c.631C= (p.Leu211=)
c.943C= (p.Leu315=)
c.640C= (p.Leu214=)
c.1087C= (p.Leu363=)
7g.99762204G>TCA368369443CYP3A4c.1090C>A (p.Leu364Ile)
n.525C>A
c.631C>A (p.Leu211Ile)
c.943C>A (p.Leu315Ile)
c.640C>A (p.Leu214Ile)
c.1087C>A (p.Leu363Ile)
7g.99762205C>ACA456687219CYP3A4c.1089G>T (p.Thr363=)
n.524G>T
c.630G>T (p.Thr210=)
c.942G>T (p.Thr314=)
c.639G>T (p.Thr213=)
c.1086G>T (p.Thr362=)
7g.99762205C=CA1729177353CYP3A4c.1089G= (p.Thr363=)
n.524G=
c.630G= (p.Thr210=)
c.942G= (p.Thr314=)
c.639G= (p.Thr213=)
c.1086G= (p.Thr362=)
7g.99762205C>GCA456687220CYP3A4c.1089G>C (p.Thr363=)
n.524G>C
c.630G>C (p.Thr210=)
c.942G>C (p.Thr314=)
c.639G>C (p.Thr213=)
c.1086G>C (p.Thr362=)
7g.99762205C>TCA4369561CYP3A4c.1089G>A (p.Thr363=)
n.524G>A
c.630G>A (p.Thr210=)
c.942G>A (p.Thr314=)
c.639G>A (p.Thr213=)
c.1086G>A (p.Thr362=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
7g.99762206G>ACA4369562CYP3A4c.1088C>T (p.Thr363Met)
n.523C>T
c.629C>T (p.Thr210Met)
c.941C>T (p.Thr314Met)
c.638C>T (p.Thr213Met)
c.1085C>T (p.Thr362Met)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.99762206G>CCA368369451CYP3A4c.1088C>G (p.Thr363Arg)
n.523C>G
c.629C>G (p.Thr210Arg)
c.941C>G (p.Thr314Arg)
c.638C>G (p.Thr213Arg)
c.1085C>G (p.Thr362Arg)
7g.99762206G=CA1729177354CYP3A4c.1088C= (p.Thr363=)
n.523C=
c.629C= (p.Thr210=)
c.941C= (p.Thr314=)
c.638C= (p.Thr213=)
c.1085C= (p.Thr362=)
7g.99762206G>TCA4369563CYP3A4c.1088C>A (p.Thr363Lys)
n.523C>A
c.629C>A (p.Thr210Lys)
c.941C>A (p.Thr314Lys)
c.638C>A (p.Thr213Lys)
c.1085C>A (p.Thr362Lys)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.99762207T>ACA368369453CYP3A4c.1087A>T (p.Thr363Ser)
n.522A>T
c.628A>T (p.Thr210Ser)
c.940A>T (p.Thr314Ser)
c.637A>T (p.Thr213Ser)
c.1084A>T (p.Thr362Ser)
7g.99762207T>CCA368369455CYP3A4c.1087A>G (p.Thr363Ala)
n.522A>G
c.628A>G (p.Thr210Ala)
c.940A>G (p.Thr314Ala)
c.637A>G (p.Thr213Ala)
c.1084A>G (p.Thr362Ala)
7g.99762207T>GCA368369457CYP3A4c.1087A>C (p.Thr363Pro)
n.522A>C
c.628A>C (p.Thr210Pro)
c.940A>C (p.Thr314Pro)
c.637A>C (p.Thr213Pro)
c.1084A>C (p.Thr362Pro)
7g.99762208T>ACA368369460CYP3A4c.1086A>T (p.Glu362Asp)
n.521A>T
c.627A>T (p.Glu209Asp)
c.939A>T (p.Glu313Asp)
c.636A>T (p.Glu212Asp)
c.1083A>T (p.Glu361Asp)
7g.99762208T>CCA456687221CYP3A4c.1086A>G (p.Glu362=)
n.521A>G
c.627A>G (p.Glu209=)
c.939A>G (p.Glu313=)
c.636A>G (p.Glu212=)
c.1083A>G (p.Glu361=)
7g.99762208T>GCA368369462CYP3A4c.1086A>C (p.Glu362Asp)
n.521A>C
c.627A>C (p.Glu209Asp)
c.939A>C (p.Glu313Asp)
c.636A>C (p.Glu212Asp)
c.1083A>C (p.Glu361Asp)
7g.99762209T>ACA368369470CYP3A4c.1085A>T (p.Glu362Val)
n.520A>T
c.626A>T (p.Glu209Val)
c.938A>T (p.Glu313Val)
c.635A>T (p.Glu212Val)
c.1082A>T (p.Glu361Val)
7g.99762209T>CCA368369465CYP3A4c.1085A>G (p.Glu362Gly)
n.520A>G
c.626A>G (p.Glu209Gly)
c.938A>G (p.Glu313Gly)
c.635A>G (p.Glu212Gly)
c.1082A>G (p.Glu361Gly)
7g.99762209T>GCA368369468CYP3A4c.1085A>C (p.Glu362Ala)
n.520A>C
c.626A>C (p.Glu209Ala)
c.938A>C (p.Glu313Ala)
c.635A>C (p.Glu212Ala)
c.1082A>C (p.Glu361Ala)
7g.99762210C>ACA368369473CYP3A4c.1084G>T (p.Glu362Ter)
n.519G>T
c.625G>T (p.Glu209Ter)
c.937G>T (p.Glu313Ter)
c.634G>T (p.Glu212Ter)
c.1081G>T (p.Glu361Ter)
7g.99762210C>GCA368369475CYP3A4c.1084G>C (p.Glu362Gln)
n.519G>C
c.625G>C (p.Glu209Gln)
c.937G>C (p.Glu313Gln)
c.634G>C (p.Glu212Gln)
c.1081G>C (p.Glu361Gln)
7g.99762210C>TCA368369477CYP3A4c.1084G>A (p.Glu362Lys)
n.519G>A
c.625G>A (p.Glu209Lys)
c.937G>A (p.Glu313Lys)
c.634G>A (p.Glu212Lys)
c.1081G>A (p.Glu361Lys)
7g.99762211A=CA1729177355CYP3A4c.1083T= (p.Asn361=)
n.518T=
c.624T= (p.Asn208=)
c.936T= (p.Asn312=)
c.633T= (p.Asn211=)
c.1080T= (p.Asn360=)
7g.99762211A>CCA368369479CYP3A4c.1083T>G (p.Asn361Lys)
n.518T>G
c.624T>G (p.Asn208Lys)
c.936T>G (p.Asn312Lys)
c.633T>G (p.Asn211Lys)
c.1080T>G (p.Asn360Lys)
7g.99762211A>GCA456687222CYP3A4c.1083T>C (p.Asn361=)
n.518T>C
c.624T>C (p.Asn208=)
c.936T>C (p.Asn312=)
c.633T>C (p.Asn211=)
c.1080T>C (p.Asn360=)
dbSNP
7g.99762211A>TCA368369481CYP3A4c.1083T>A (p.Asn361Lys)
n.518T>A
c.624T>A (p.Asn208Lys)
c.936T>A (p.Asn312Lys)
c.633T>A (p.Asn211Lys)
c.1080T>A (p.Asn360Lys)
7g.99762212T>ACA368369484CYP3A4c.1082A>T (p.Asn361Ile)
n.517A>T
c.623A>T (p.Asn208Ile)
c.935A>T (p.Asn312Ile)
c.632A>T (p.Asn211Ile)
c.1079A>T (p.Asn360Ile)
7g.99762212T>CCA368369482CYP3A4c.1082A>G (p.Asn361Ser)
n.517A>G
c.623A>G (p.Asn208Ser)
c.935A>G (p.Asn312Ser)
c.632A>G (p.Asn211Ser)
c.1079A>G (p.Asn360Ser)
7g.99762212T>GCA368369483CYP3A4c.1082A>C (p.Asn361Thr)
n.517A>C
c.623A>C (p.Asn208Thr)
c.935A>C (p.Asn312Thr)
c.632A>C (p.Asn211Thr)
c.1079A>C (p.Asn360Thr)
7g.99762213T>ACA368369485CYP3A4c.1081A>T (p.Asn361Tyr)
n.516A>T
c.622A>T (p.Asn208Tyr)
c.934A>T (p.Asn312Tyr)
c.631A>T (p.Asn211Tyr)
c.1078A>T (p.Asn360Tyr)
7g.99762213T>CCA368369486CYP3A4c.1081A>G (p.Asn361Asp)
n.516A>G
c.622A>G (p.Asn208Asp)
c.934A>G (p.Asn312Asp)
c.631A>G (p.Asn211Asp)
c.1078A>G (p.Asn360Asp)
gnomAD v4
7g.99762213T>GCA368369487CYP3A4c.1081A>C (p.Asn361His)
n.516A>C
c.622A>C (p.Asn208His)
c.934A>C (p.Asn312His)
c.631A>C (p.Asn211His)
c.1078A>C (p.Asn360His)
7g.99762213_99762216delinsTCACCA1729177356CYP3A4c.1078_1081delinsGTGA (p.Val360=)
n.513_516delinsGTGA
c.619_622delinsGTGA (p.Val207=)
c.931_934delinsGTGA (p.Val311=)
c.628_631delinsGTGA (p.Val210=)
c.1075_1078delinsGTGA (p.Val359=)
7g.99762214C>ACA456687223CYP3A4c.1080G>T (p.Val360=)
n.515G>T
c.621G>T (p.Val207=)
c.933G>T (p.Val311=)
c.630G>T (p.Val210=)
c.1077G>T (p.Val359=)
7g.99762214C=CA1729177357CYP3A4c.1080G= (p.Val360=)
n.515G=
c.621G= (p.Val207=)
c.933G= (p.Val311=)
c.630G= (p.Val210=)
c.1077G= (p.Val359=)
7g.99762214C>GCA456687224CYP3A4c.1080G>C (p.Val360=)
n.515G>C
c.621G>C (p.Val207=)
c.933G>C (p.Val311=)
c.630G>C (p.Val210=)
c.1077G>C (p.Val359=)
dbSNP gnomAD v2 gnomAD v4
7g.99762214C>TCA456687225CYP3A4c.1080G>A (p.Val360=)
n.515G>A
c.621G>A (p.Val207=)
c.933G>A (p.Val311=)
c.630G>A (p.Val210=)
c.1077G>A (p.Val359=)
7g.99762219_99762221delCA576710251CYP3A4c.1078_1080del (p.Val360del)
n.513_515del
c.619_621del (p.Val207del)
c.931_933del (p.Val311del)
c.628_630del (p.Val210del)
c.1075_1077del (p.Val359del)
dbSNP gnomAD v2 gnomAD v4
7g.99762215A>CCA368369488CYP3A4c.1079T>G (p.Val360Gly)
n.514T>G
c.620T>G (p.Val207Gly)
c.932T>G (p.Val311Gly)
c.629T>G (p.Val210Gly)
c.1076T>G (p.Val359Gly)
7g.99762215A>GCA368369489CYP3A4c.1079T>C (p.Val360Ala)
n.514T>C
c.620T>C (p.Val207Ala)
c.932T>C (p.Val311Ala)
c.629T>C (p.Val210Ala)
c.1076T>C (p.Val359Ala)
gnomAD v4
7g.99762215A>TCA368369490CYP3A4c.1079T>A (p.Val360Glu)
n.514T>A
c.620T>A (p.Val207Glu)
c.932T>A (p.Val311Glu)
c.629T>A (p.Val210Glu)
c.1076T>A (p.Val359Glu)
7g.99762216C>ACA368369493CYP3A4c.1078G>T (p.Val360Leu)
n.513G>T
c.619G>T (p.Val207Leu)
c.931G>T (p.Val311Leu)
c.628G>T (p.Val210Leu)
c.1075G>T (p.Val359Leu)
7g.99762216C>GCA368369492CYP3A4c.1078G>C (p.Val360Leu)
n.513G>C
c.619G>C (p.Val207Leu)
c.931G>C (p.Val311Leu)
c.628G>C (p.Val210Leu)
c.1075G>C (p.Val359Leu)
7g.99762216C>TCA368369491CYP3A4c.1078G>A (p.Val360Met)
n.513G>A
c.619G>A (p.Val207Met)
c.931G>A (p.Val311Met)
c.628G>A (p.Val210Met)
c.1075G>A (p.Val359Met)

Number of alleles fetched