Chr Mutation (hg38) CAid Gene Transcript Linkouts
7g.99767158_99767161delCA1729179953CYP3A4c.773_776del (p.Glu258ValfsTer16)
n.208_211del
c.314_317del (p.Glu105ValfsTer16)
c.626_629del (p.Glu209ValfsTer16)
c.323_326del (p.Glu108ValfsTer16)
c.770_773del (p.Glu257ValfsTer16)
dbSNP
7g.99767161C>ACA368370216CYP3A4c.768G>T (p.Met256Ile)
n.203G>T
c.309G>T (p.Met103Ile)
c.621G>T (p.Met207Ile)
c.318G>T (p.Met106Ile)
c.765G>T (p.Met255Ile)
7g.99767161C=CA1729179970CYP3A4c.768G= (p.Met256=)
n.203G=
c.309G= (p.Met103=)
c.621G= (p.Met207=)
c.318G= (p.Met106=)
c.765G= (p.Met255=)
7g.99767161C>GCA368370217CYP3A4c.768G>C (p.Met256Ile)
n.203G>C
c.309G>C (p.Met103Ile)
c.621G>C (p.Met207Ile)
c.318G>C (p.Met106Ile)
c.765G>C (p.Met255Ile)
dbSNP
7g.99767161C>TCA368370218CYP3A4c.768G>A (p.Met256Ile)
n.203G>A
c.309G>A (p.Met103Ile)
c.621G>A (p.Met207Ile)
c.318G>A (p.Met106Ile)
c.765G>A (p.Met255Ile)
7g.99767162A>CCA368370219CYP3A4c.767T>G (p.Met256Arg)
n.202T>G
c.308T>G (p.Met103Arg)
c.620T>G (p.Met207Arg)
c.317T>G (p.Met106Arg)
c.764T>G (p.Met255Arg)
7g.99767162A>GCA368370220CYP3A4c.767T>C (p.Met256Thr)
n.202T>C
c.308T>C (p.Met103Thr)
c.620T>C (p.Met207Thr)
c.317T>C (p.Met106Thr)
c.764T>C (p.Met255Thr)
7g.99767162A>TCA368370221CYP3A4c.767T>A (p.Met256Lys)
n.202T>A
c.308T>A (p.Met103Lys)
c.620T>A (p.Met207Lys)
c.317T>A (p.Met106Lys)
c.764T>A (p.Met255Lys)
7g.99767163T>ACA368370222CYP3A4c.766A>T (p.Met256Leu)
n.201A>T
c.307A>T (p.Met103Leu)
c.619A>T (p.Met207Leu)
c.316A>T (p.Met106Leu)
c.763A>T (p.Met255Leu)
7g.99767163T>CCA368370223CYP3A4c.766A>G (p.Met256Val)
n.201A>G
c.307A>G (p.Met103Val)
c.619A>G (p.Met207Val)
c.316A>G (p.Met106Val)
c.763A>G (p.Met255Val)
7g.99767163T>GCA368370224CYP3A4c.766A>C (p.Met256Leu)
n.201A>C
c.307A>C (p.Met103Leu)
c.619A>C (p.Met207Leu)
c.316A>C (p.Met106Leu)
c.763A>C (p.Met255Leu)
7g.99767164C>ACA368370225CYP3A4c.765G>T (p.Arg255Ser)
n.200G>T
c.306G>T (p.Arg102Ser)
c.618G>T (p.Arg206Ser)
c.315G>T (p.Arg105Ser)
c.762G>T (p.Arg254Ser)
7g.99767164C>GCA368370226CYP3A4c.765G>C (p.Arg255Ser)
n.200G>C
c.306G>C (p.Arg102Ser)
c.618G>C (p.Arg206Ser)
c.315G>C (p.Arg105Ser)
c.762G>C (p.Arg254Ser)
7g.99767164C>TCA456689698CYP3A4c.765G>A (p.Arg255=)
n.200G>A
c.306G>A (p.Arg102=)
c.618G>A (p.Arg206=)
c.315G>A (p.Arg105=)
c.762G>A (p.Arg254=)
7g.99767165C>ACA368370227CYP3A4c.764G>T (p.Arg255Met)
n.199G>T
c.305G>T (p.Arg102Met)
c.617G>T (p.Arg206Met)
c.314G>T (p.Arg105Met)
c.761G>T (p.Arg254Met)
7g.99767165C=CA1729179975CYP3A4c.764G= (p.Arg255=)
n.199G=
c.305G= (p.Arg102=)
c.617G= (p.Arg206=)
c.314G= (p.Arg105=)
c.761G= (p.Arg254=)
7g.99767165C>GCA368370228CYP3A4c.764G>C (p.Arg255Thr)
n.199G>C
c.305G>C (p.Arg102Thr)
c.617G>C (p.Arg206Thr)
c.314G>C (p.Arg105Thr)
c.761G>C (p.Arg254Thr)
dbSNP gnomAD v2 gnomAD v4
7g.99767165C>TCA4369649CYP3A4c.764G>A (p.Arg255Lys)
n.199G>A
c.305G>A (p.Arg102Lys)
c.617G>A (p.Arg206Lys)
c.314G>A (p.Arg105Lys)
c.761G>A (p.Arg254Lys)
dbSNP ExAC gnomAD v2
7g.99767166T>ACA368370230CYP3A4c.763A>T (p.Arg255Trp)
n.198A>T
c.304A>T (p.Arg102Trp)
c.616A>T (p.Arg206Trp)
c.313A>T (p.Arg105Trp)
c.760A>T (p.Arg254Trp)
gnomAD v4
7g.99767166T>CCA368370229CYP3A4c.763A>G (p.Arg255Gly)
n.198A>G
c.304A>G (p.Arg102Gly)
c.616A>G (p.Arg206Gly)
c.313A>G (p.Arg105Gly)
c.760A>G (p.Arg254Gly)
7g.99767166T>GCA456689706CYP3A4c.763A>C (p.Arg255=)
n.198A>C
c.304A>C (p.Arg102=)
c.616A>C (p.Arg206=)
c.313A>C (p.Arg105=)
c.760A>C (p.Arg254=)
7g.99767170delCA645554515CYP3A4c.763del (p.Arg255GlyfsTer2)
n.198del
c.304del (p.Arg102GlyfsTer2)
c.616del (p.Arg206GlyfsTer2)
c.313del (p.Arg105GlyfsTer2)
c.760del (p.Arg254GlyfsTer2)
COSMIC
7g.99767167T>ACA368370232CYP3A4c.762A>T (p.Lys254Asn)
n.197A>T
c.303A>T (p.Lys101Asn)
c.615A>T (p.Lys205Asn)
c.312A>T (p.Lys104Asn)
c.759A>T (p.Lys253Asn)
7g.99767167T>CCA456689709CYP3A4c.762A>G (p.Lys254=)
n.197A>G
c.303A>G (p.Lys101=)
c.615A>G (p.Lys205=)
c.312A>G (p.Lys104=)
c.759A>G (p.Lys253=)
7g.99767167T>GCA368370231CYP3A4c.762A>C (p.Lys254Asn)
n.197A>C
c.303A>C (p.Lys101Asn)
c.615A>C (p.Lys205Asn)
c.312A>C (p.Lys104Asn)
c.759A>C (p.Lys253Asn)
7g.99767168T>ACA368370233CYP3A4c.761A>T (p.Lys254Ile)
n.196A>T
c.302A>T (p.Lys101Ile)
c.614A>T (p.Lys205Ile)
c.311A>T (p.Lys104Ile)
c.758A>T (p.Lys253Ile)
7g.99767168T>CCA368370234CYP3A4c.761A>G (p.Lys254Arg)
n.196A>G
c.302A>G (p.Lys101Arg)
c.614A>G (p.Lys205Arg)
c.311A>G (p.Lys104Arg)
c.758A>G (p.Lys253Arg)
7g.99767168T>GCA368370235CYP3A4c.761A>C (p.Lys254Thr)
n.196A>C
c.302A>C (p.Lys101Thr)
c.614A>C (p.Lys205Thr)
c.311A>C (p.Lys104Thr)
c.758A>C (p.Lys253Thr)
7g.99767169T>ACA368370236CYP3A4c.760A>T (p.Lys254Ter)
n.195A>T
c.301A>T (p.Lys101Ter)
c.613A>T (p.Lys205Ter)
c.310A>T (p.Lys104Ter)
c.757A>T (p.Lys253Ter)
7g.99767169T>CCA368370237CYP3A4c.760A>G (p.Lys254Glu)
n.195A>G
c.301A>G (p.Lys101Glu)
c.613A>G (p.Lys205Glu)
c.310A>G (p.Lys104Glu)
c.757A>G (p.Lys253Glu)
7g.99767169T>GCA368370238CYP3A4c.760A>C (p.Lys254Gln)
n.195A>C
c.301A>C (p.Lys101Gln)
c.613A>C (p.Lys205Gln)
c.310A>C (p.Lys104Gln)
c.757A>C (p.Lys253Gln)
7g.99767170T>ACA456689721CYP3A4c.759A>T (p.Val253=)
n.194A>T
c.300A>T (p.Val100=)
c.612A>T (p.Val204=)
c.309A>T (p.Val103=)
c.756A>T (p.Val252=)
7g.99767170T>CCA456689719CYP3A4c.759A>G (p.Val253=)
n.194A>G
c.300A>G (p.Val100=)
c.612A>G (p.Val204=)
c.309A>G (p.Val103=)
c.756A>G (p.Val252=)
7g.99767170T>GCA456689717CYP3A4c.759A>C (p.Val253=)
n.194A>C
c.300A>C (p.Val100=)
c.612A>C (p.Val204=)
c.309A>C (p.Val103=)
c.756A>C (p.Val252=)
7g.99767171A=CA1729179978CYP3A4c.758T= (p.Val253=)
n.193T=
c.299T= (p.Val100=)
c.611T= (p.Val204=)
c.308T= (p.Val103=)
c.755T= (p.Val252=)
7g.99767171A>CCA368370239CYP3A4c.758T>G (p.Val253Gly)
n.193T>G
c.299T>G (p.Val100Gly)
c.611T>G (p.Val204Gly)
c.308T>G (p.Val103Gly)
c.755T>G (p.Val252Gly)
7g.99767171A>GCA368370240CYP3A4c.758T>C (p.Val253Ala)
n.193T>C
c.299T>C (p.Val100Ala)
c.611T>C (p.Val204Ala)
c.308T>C (p.Val103Ala)
c.755T>C (p.Val252Ala)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.99767171A>TCA368370241CYP3A4c.758T>A (p.Val253Glu)
n.193T>A
c.299T>A (p.Val100Glu)
c.611T>A (p.Val204Glu)
c.308T>A (p.Val103Glu)
c.755T>A (p.Val252Glu)
7g.99767172C>ACA368370242CYP3A4c.757G>T (p.Val253Leu)
n.192G>T
c.298G>T (p.Val100Leu)
c.610G>T (p.Val204Leu)
c.307G>T (p.Val103Leu)
c.754G>T (p.Val252Leu)
7g.99767172C>GCA368370243CYP3A4c.757G>C (p.Val253Leu)
n.192G>C
c.298G>C (p.Val100Leu)
c.610G>C (p.Val204Leu)
c.307G>C (p.Val103Leu)
c.754G>C (p.Val252Leu)
7g.99767172C>TCA368370244CYP3A4c.757G>A (p.Val253Ile)
n.192G>A
c.298G>A (p.Val100Ile)
c.610G>A (p.Val204Ile)
c.307G>A (p.Val103Ile)
c.754G>A (p.Val252Ile)
7g.99767173A>CCA456689728CYP3A4c.756T>G (p.Ser252=)
n.191T>G
c.297T>G (p.Ser99=)
c.609T>G (p.Ser203=)
c.306T>G (p.Ser102=)
c.753T>G (p.Ser251=)
7g.99767173A>GCA456689729CYP3A4c.756T>C (p.Ser252=)
n.191T>C
c.297T>C (p.Ser99=)
c.609T>C (p.Ser203=)
c.306T>C (p.Ser102=)
c.753T>C (p.Ser251=)
gnomAD v4
7g.99767173A>TCA456689730CYP3A4c.756T>A (p.Ser252=)
n.191T>A
c.297T>A (p.Ser99=)
c.609T>A (p.Ser203=)
c.306T>A (p.Ser102=)
c.753T>A (p.Ser251=)
7g.99767174G>ACA368370245CYP3A4c.755C>T (p.Ser252Phe)
n.190C>T
c.296C>T (p.Ser99Phe)
c.608C>T (p.Ser203Phe)
c.305C>T (p.Ser102Phe)
c.752C>T (p.Ser251Phe)
7g.99767174G>CCA368370247CYP3A4c.755C>G (p.Ser252Cys)
n.190C>G
c.296C>G (p.Ser99Cys)
c.608C>G (p.Ser203Cys)
c.305C>G (p.Ser102Cys)
c.752C>G (p.Ser251Cys)
7g.99767174G>TCA368370246CYP3A4c.755C>A (p.Ser252Tyr)
n.190C>A
c.296C>A (p.Ser99Tyr)
c.608C>A (p.Ser203Tyr)
c.305C>A (p.Ser102Tyr)
c.752C>A (p.Ser251Tyr)
7g.99767175A=CA1729179981CYP3A4c.754T= (p.Ser252=)
n.189T=
c.295T= (p.Ser99=)
c.607T= (p.Ser203=)
c.304T= (p.Ser102=)
c.751T= (p.Ser251=)
7g.99767175A>CCA163153075CYP3A4c.754T>G (p.Ser252Ala)
n.189T>G
c.295T>G (p.Ser99Ala)
c.607T>G (p.Ser203Ala)
c.304T>G (p.Ser102Ala)
c.751T>G (p.Ser251Ala)
dbSNP
7g.99767175A>GCA368370248CYP3A4c.754T>C (p.Ser252Pro)
n.189T>C
c.295T>C (p.Ser99Pro)
c.607T>C (p.Ser203Pro)
c.304T>C (p.Ser102Pro)
c.751T>C (p.Ser251Pro)
7g.99767175A>TCA163153077CYP3A4c.754T>A (p.Ser252Thr)
n.189T>A
c.295T>A (p.Ser99Thr)
c.607T>A (p.Ser203Thr)
c.304T>A (p.Ser102Thr)
c.751T>A (p.Ser251Thr)
dbSNP gnomAD v4
7g.99767176T>ACA368370249CYP3A4c.753A>T (p.Lys251Asn)
n.188A>T
c.294A>T (p.Lys98Asn)
c.606A>T (p.Lys202Asn)
c.303A>T (p.Lys101Asn)
c.750A>T (p.Lys250Asn)
7g.99767176T>CCA456689738CYP3A4c.753A>G (p.Lys251=)
n.188A>G
c.294A>G (p.Lys98=)
c.606A>G (p.Lys202=)
c.303A>G (p.Lys101=)
c.750A>G (p.Lys250=)
7g.99767176T>GCA368370250CYP3A4c.753A>C (p.Lys251Asn)
n.188A>C
c.294A>C (p.Lys98Asn)
c.606A>C (p.Lys202Asn)
c.303A>C (p.Lys101Asn)
c.750A>C (p.Lys250Asn)
7g.99767177T>ACA368370251CYP3A4c.752A>T (p.Lys251Ile)
n.187A>T
c.293A>T (p.Lys98Ile)
c.605A>T (p.Lys202Ile)
c.302A>T (p.Lys101Ile)
c.749A>T (p.Lys250Ile)
7g.99767177T>CCA368370252CYP3A4c.752A>G (p.Lys251Arg)
n.187A>G
c.293A>G (p.Lys98Arg)
c.605A>G (p.Lys202Arg)
c.302A>G (p.Lys101Arg)
c.749A>G (p.Lys250Arg)
7g.99767177T>GCA368370253CYP3A4c.752A>C (p.Lys251Thr)
n.187A>C
c.293A>C (p.Lys98Thr)
c.605A>C (p.Lys202Thr)
c.302A>C (p.Lys101Thr)
c.749A>C (p.Lys250Thr)
dbSNP gnomAD v2
7g.99767177T=CA1729179987CYP3A4c.752A= (p.Lys251=)
n.187A=
c.293A= (p.Lys98=)
c.605A= (p.Lys202=)
c.302A= (p.Lys101=)
c.749A= (p.Lys250=)
7g.99767178T>ACA368370254CYP3A4c.751A>T (p.Lys251Ter)
n.186A>T
c.292A>T (p.Lys98Ter)
c.604A>T (p.Lys202Ter)
c.301A>T (p.Lys101Ter)
c.748A>T (p.Lys250Ter)
7g.99767178T>CCA368370255CYP3A4c.751A>G (p.Lys251Glu)
n.186A>G
c.292A>G (p.Lys98Glu)
c.604A>G (p.Lys202Glu)
c.301A>G (p.Lys101Glu)
c.748A>G (p.Lys250Glu)
7g.99767178T>GCA368370256CYP3A4c.751A>C (p.Lys251Gln)
n.186A>C
c.292A>C (p.Lys98Gln)
c.604A>C (p.Lys202Gln)
c.301A>C (p.Lys101Gln)
c.748A>C (p.Lys250Gln)
7g.99767179T>ACA368370258CYP3A4c.750A>T (p.Arg250Ser)
n.185A>T
c.291A>T (p.Arg97Ser)
c.603A>T (p.Arg201Ser)
c.300A>T (p.Arg100Ser)
c.747A>T (p.Arg249Ser)
7g.99767179T>CCA456689745CYP3A4c.750A>G (p.Arg250=)
n.185A>G
c.291A>G (p.Arg97=)
c.603A>G (p.Arg201=)
c.300A>G (p.Arg100=)
c.747A>G (p.Arg249=)
7g.99767179T>GCA368370257CYP3A4c.750A>C (p.Arg250Ser)
n.185A>C
c.291A>C (p.Arg97Ser)
c.603A>C (p.Arg201Ser)
c.300A>C (p.Arg100Ser)
c.747A>C (p.Arg249Ser)
7g.99767180C>ACA368370259CYP3A4c.749G>T (p.Arg250Ile)
n.184G>T
c.290G>T (p.Arg97Ile)
c.602G>T (p.Arg201Ile)
c.299G>T (p.Arg100Ile)
c.746G>T (p.Arg249Ile)
7g.99767180C>GCA368370260CYP3A4c.749G>C (p.Arg250Thr)
n.184G>C
c.290G>C (p.Arg97Thr)
c.602G>C (p.Arg201Thr)
c.299G>C (p.Arg100Thr)
c.746G>C (p.Arg249Thr)
7g.99767180C>TCA368370261CYP3A4c.749G>A (p.Arg250Lys)
n.184G>A
c.290G>A (p.Arg97Lys)
c.602G>A (p.Arg201Lys)
c.299G>A (p.Arg100Lys)
c.746G>A (p.Arg249Lys)
7g.99767181T>ACA368370262CYP3A4c.748A>T (p.Arg250Ter)
n.183A>T
c.289A>T (p.Arg97Ter)
c.601A>T (p.Arg201Ter)
c.298A>T (p.Arg100Ter)
c.745A>T (p.Arg249Ter)
7g.99767181T>CCA368370263CYP3A4c.748A>G (p.Arg250Gly)
n.183A>G
c.289A>G (p.Arg97Gly)
c.601A>G (p.Arg201Gly)
c.298A>G (p.Arg100Gly)
c.745A>G (p.Arg249Gly)
7g.99767181T>GCA456689751CYP3A4c.748A>C (p.Arg250=)
n.183A>C
c.289A>C (p.Arg97=)
c.601A>C (p.Arg201=)
c.298A>C (p.Arg100=)
c.745A>C (p.Arg249=)
7g.99767182T>ACA368370264CYP3A4c.747A>T (p.Leu249Phe)
n.182A>T
c.288A>T (p.Leu96Phe)
c.600A>T (p.Leu200Phe)
c.297A>T (p.Leu99Phe)
c.744A>T (p.Leu248Phe)
7g.99767182T>CCA456689754CYP3A4c.747A>G (p.Leu249=)
n.182A>G
c.288A>G (p.Leu96=)
c.600A>G (p.Leu200=)
c.297A>G (p.Leu99=)
c.744A>G (p.Leu248=)
7g.99767182T>GCA368370265CYP3A4c.747A>C (p.Leu249Phe)
n.182A>C
c.288A>C (p.Leu96Phe)
c.600A>C (p.Leu200Phe)
c.297A>C (p.Leu99Phe)
c.744A>C (p.Leu248Phe)
7g.99767182T=CA1729179990CYP3A4c.747A= (p.Leu249=)
n.182A=
c.288A= (p.Leu96=)
c.600A= (p.Leu200=)
c.297A= (p.Leu99=)
c.744A= (p.Leu248=)
7g.99767183A=CA1729179995CYP3A4c.746T= (p.Leu249=)
n.181T=
c.287T= (p.Leu96=)
c.599T= (p.Leu200=)
c.296T= (p.Leu99=)
c.743T= (p.Leu248=)
7g.99767183A>CCA368370266CYP3A4c.746T>G (p.Leu249Ter)
n.181T>G
c.287T>G (p.Leu96Ter)
c.599T>G (p.Leu200Ter)
c.296T>G (p.Leu99Ter)
c.743T>G (p.Leu248Ter)
7g.99767183A>GCA368370267CYP3A4c.746T>C (p.Leu249Ser)
n.181T>C
c.287T>C (p.Leu96Ser)
c.599T>C (p.Leu200Ser)
c.296T>C (p.Leu99Ser)
c.743T>C (p.Leu248Ser)
7g.99767183A>TCA4369651CYP3A4c.746T>A (p.Leu249Ter)
n.181T>A
c.287T>A (p.Leu96Ter)
c.599T>A (p.Leu200Ter)
c.296T>A (p.Leu99Ter)
c.743T>A (p.Leu248Ter)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.99767188dupCA4369650CYP3A4c.746dup (p.Leu249PhefsTer29)
n.181dup
c.287dup (p.Leu96PhefsTer29)
c.599dup (p.Leu200PhefsTer29)
c.296dup (p.Leu99PhefsTer29)
c.743dup (p.Leu248PhefsTer29)
dbSNP ExAC gnomAD v2 gnomAD v4
7g.99767184A>CCA368370268CYP3A4c.745T>G (p.Leu249Val)
n.180T>G
c.286T>G (p.Leu96Val)
c.598T>G (p.Leu200Val)
c.295T>G (p.Leu99Val)
c.742T>G (p.Leu248Val)
gnomAD v4
7g.99767184A>GCA456689760CYP3A4c.745T>C (p.Leu249=)
n.180T>C
c.286T>C (p.Leu96=)
c.598T>C (p.Leu200=)
c.295T>C (p.Leu99=)
c.742T>C (p.Leu248=)
7g.99767184A>TCA368370269CYP3A4c.745T>A (p.Leu249Ile)
n.180T>A
c.286T>A (p.Leu96Ile)
c.598T>A (p.Leu200Ile)
c.295T>A (p.Leu99Ile)
c.742T>A (p.Leu248Ile)
7g.99767185A>CCA368370270CYP3A4c.744T>G (p.Phe248Leu)
n.179T>G
c.285T>G (p.Phe95Leu)
c.597T>G (p.Phe199Leu)
c.294T>G (p.Phe98Leu)
c.741T>G (p.Phe247Leu)
7g.99767185A>GCA456689764CYP3A4c.744T>C (p.Phe248=)
n.179T>C
c.285T>C (p.Phe95=)
c.597T>C (p.Phe199=)
c.294T>C (p.Phe98=)
c.741T>C (p.Phe247=)
7g.99767185A>TCA368370271CYP3A4c.744T>A (p.Phe248Leu)
n.179T>A
c.285T>A (p.Phe95Leu)
c.597T>A (p.Phe199Leu)
c.294T>A (p.Phe98Leu)
c.741T>A (p.Phe247Leu)
7g.99767186A>CCA368370272CYP3A4c.743T>G (p.Phe248Cys)
n.178T>G
c.284T>G (p.Phe95Cys)
c.596T>G (p.Phe199Cys)
c.293T>G (p.Phe98Cys)
c.740T>G (p.Phe247Cys)
7g.99767186A>GCA368370274CYP3A4c.743T>C (p.Phe248Ser)
n.178T>C
c.284T>C (p.Phe95Ser)
c.596T>C (p.Phe199Ser)
c.293T>C (p.Phe98Ser)
c.740T>C (p.Phe247Ser)
7g.99767186A>TCA368370273CYP3A4c.743T>A (p.Phe248Tyr)
n.178T>A
c.284T>A (p.Phe95Tyr)
c.596T>A (p.Phe199Tyr)
c.293T>A (p.Phe98Tyr)
c.740T>A (p.Phe247Tyr)
7g.99767187A>CCA368370275CYP3A4c.742T>G (p.Phe248Val)
n.177T>G
c.283T>G (p.Phe95Val)
c.595T>G (p.Phe199Val)
c.292T>G (p.Phe98Val)
c.739T>G (p.Phe247Val)
gnomAD v4
7g.99767187A>GCA368370276CYP3A4c.742T>C (p.Phe248Leu)
n.177T>C
c.283T>C (p.Phe95Leu)
c.595T>C (p.Phe199Leu)
c.292T>C (p.Phe98Leu)
c.739T>C (p.Phe247Leu)
7g.99767187A>TCA368370277CYP3A4c.742T>A (p.Phe248Ile)
n.177T>A
c.283T>A (p.Phe95Ile)
c.595T>A (p.Phe199Ile)
c.292T>A (p.Phe98Ile)
c.739T>A (p.Phe247Ile)
7g.99767188A=CA1729179999CYP3A4c.741T= (p.Asn247=)
n.176T=
c.282T= (p.Asn94=)
c.594T= (p.Asn198=)
c.291T= (p.Asn97=)
c.738T= (p.Asn246=)
7g.99767188A>CCA368370278CYP3A4c.741T>G (p.Asn247Lys)
n.176T>G
c.282T>G (p.Asn94Lys)
c.594T>G (p.Asn198Lys)
c.291T>G (p.Asn97Lys)
c.738T>G (p.Asn246Lys)
7g.99767188A>GCA456689771CYP3A4c.741T>C (p.Asn247=)
n.176T>C
c.282T>C (p.Asn94=)
c.594T>C (p.Asn198=)
c.291T>C (p.Asn97=)
c.738T>C (p.Asn246=)
dbSNP gnomAD v2 gnomAD v4
7g.99767188A>TCA368370279CYP3A4c.741T>A (p.Asn247Lys)
n.176T>A
c.282T>A (p.Asn94Lys)
c.594T>A (p.Asn198Lys)
c.291T>A (p.Asn97Lys)
c.738T>A (p.Asn246Lys)
COSMIC
7g.99767189T>ACA368370280CYP3A4c.740A>T (p.Asn247Ile)
n.175A>T
c.281A>T (p.Asn94Ile)
c.593A>T (p.Asn198Ile)
c.290A>T (p.Asn97Ile)
c.737A>T (p.Asn246Ile)
dbSNP gnomAD v2 gnomAD v4
7g.99767189T>CCA368370281CYP3A4c.740A>G (p.Asn247Ser)
n.175A>G
c.281A>G (p.Asn94Ser)
c.593A>G (p.Asn198Ser)
c.290A>G (p.Asn97Ser)
c.737A>G (p.Asn246Ser)
7g.99767189T>GCA368370282CYP3A4c.740A>C (p.Asn247Thr)
n.175A>C
c.281A>C (p.Asn94Thr)
c.593A>C (p.Asn198Thr)
c.290A>C (p.Asn97Thr)
c.737A>C (p.Asn246Thr)
7g.99767189T=CA1729180001CYP3A4c.740A= (p.Asn247=)
n.175A=
c.281A= (p.Asn94=)
c.593A= (p.Asn198=)
c.290A= (p.Asn97=)
c.737A= (p.Asn246=)
7g.99767190T>ACA368370283CYP3A4c.739A>T (p.Asn247Tyr)
n.174A>T
c.280A>T (p.Asn94Tyr)
c.592A>T (p.Asn198Tyr)
c.289A>T (p.Asn97Tyr)
c.736A>T (p.Asn246Tyr)
7g.99767190T>CCA4369652CYP3A4c.739A>G (p.Asn247Asp)
n.174A>G
c.280A>G (p.Asn94Asp)
c.592A>G (p.Asn198Asp)
c.289A>G (p.Asn97Asp)
c.736A>G (p.Asn246Asp)
dbSNP ExAC gnomAD v2 gnomAD v4
7g.99767190T>GCA368370284CYP3A4c.739A>C (p.Asn247His)
n.174A>C
c.280A>C (p.Asn94His)
c.592A>C (p.Asn198His)
c.289A>C (p.Asn97His)
c.736A>C (p.Asn246His)
gnomAD v4 COSMIC
7g.99767190T=CA1729180004CYP3A4c.739A= (p.Asn247=)
n.174A=
c.280A= (p.Asn94=)
c.592A= (p.Asn198=)
c.289A= (p.Asn97=)
c.736A= (p.Asn246=)
7g.99767191T>ACA456689777CYP3A4c.738A>T (p.Thr246=)
n.173A>T
c.279A>T (p.Thr93=)
c.591A>T (p.Thr197=)
c.288A>T (p.Thr96=)
c.735A>T (p.Thr245=)
7g.99767191T>CCA456689779CYP3A4c.738A>G (p.Thr246=)
n.173A>G
c.279A>G (p.Thr93=)
c.591A>G (p.Thr197=)
c.288A>G (p.Thr96=)
c.735A>G (p.Thr245=)
7g.99767191T>GCA456689778CYP3A4c.738A>C (p.Thr246=)
n.173A>C
c.279A>C (p.Thr93=)
c.591A>C (p.Thr197=)
c.288A>C (p.Thr96=)
c.735A>C (p.Thr245=)
7g.99767192G>ACA368370287CYP3A4c.737C>T (p.Thr246Ile)
n.172C>T
c.278C>T (p.Thr93Ile)
c.590C>T (p.Thr197Ile)
c.287C>T (p.Thr96Ile)
c.734C>T (p.Thr245Ile)
gnomAD v4
7g.99767192G>CCA368370286CYP3A4c.737C>G (p.Thr246Arg)
n.172C>G
c.278C>G (p.Thr93Arg)
c.590C>G (p.Thr197Arg)
c.287C>G (p.Thr96Arg)
c.734C>G (p.Thr245Arg)
7g.99767192G>TCA368370285CYP3A4c.737C>A (p.Thr246Lys)
n.172C>A
c.278C>A (p.Thr93Lys)
c.590C>A (p.Thr197Lys)
c.287C>A (p.Thr96Lys)
c.734C>A (p.Thr245Lys)
7g.99767193T>ACA368370288CYP3A4c.736A>T (p.Thr246Ser)
n.171A>T
c.277A>T (p.Thr93Ser)
c.589A>T (p.Thr197Ser)
c.286A>T (p.Thr96Ser)
c.733A>T (p.Thr245Ser)
7g.99767193T>CCA368370290CYP3A4c.736A>G (p.Thr246Ala)
n.171A>G
c.277A>G (p.Thr93Ala)
c.589A>G (p.Thr197Ala)
c.286A>G (p.Thr96Ala)
c.733A>G (p.Thr245Ala)
7g.99767193T>GCA368370289CYP3A4c.736A>C (p.Thr246Pro)
n.171A>C
c.277A>C (p.Thr93Pro)
c.589A>C (p.Thr197Pro)
c.286A>C (p.Thr96Pro)
c.733A>C (p.Thr245Pro)
7g.99767194A=CA1729180005CYP3A4c.735T= (p.Val245=)
n.170T=
c.276T= (p.Val92=)
c.588T= (p.Val196=)
c.285T= (p.Val95=)
c.732T= (p.Val244=)
7g.99767194A>CCA4369653CYP3A4c.735T>G (p.Val245=)
n.170T>G
c.276T>G (p.Val92=)
c.588T>G (p.Val196=)
c.285T>G (p.Val95=)
c.732T>G (p.Val244=)
dbSNP ExAC gnomAD v2 gnomAD v4
7g.99767194A>GCA456689788CYP3A4c.735T>C (p.Val245=)
n.170T>C
c.276T>C (p.Val92=)
c.588T>C (p.Val196=)
c.285T>C (p.Val95=)
c.732T>C (p.Val244=)
7g.99767194A>TCA456689789CYP3A4c.735T>A (p.Val245=)
n.170T>A
c.276T>A (p.Val92=)
c.588T>A (p.Val196=)
c.285T>A (p.Val95=)
c.732T>A (p.Val244=)
7g.99767195A>CCA368370291CYP3A4c.734T>G (p.Val245Gly)
n.169T>G
c.275T>G (p.Val92Gly)
c.587T>G (p.Val196Gly)
c.284T>G (p.Val95Gly)
c.731T>G (p.Val244Gly)
7g.99767195A>GCA368370292CYP3A4c.734T>C (p.Val245Ala)
n.169T>C
c.275T>C (p.Val92Ala)
c.587T>C (p.Val196Ala)
c.284T>C (p.Val95Ala)
c.731T>C (p.Val244Ala)
gnomAD v4 COSMIC
7g.99767195A>TCA368370293CYP3A4c.734T>A (p.Val245Asp)
n.169T>A
c.275T>A (p.Val92Asp)
c.587T>A (p.Val196Asp)
c.284T>A (p.Val95Asp)
c.731T>A (p.Val244Asp)
7g.99767196C>ACA368370294CYP3A4c.733G>T (p.Val245Phe)
n.168G>T
c.274G>T (p.Val92Phe)
c.586G>T (p.Val196Phe)
c.283G>T (p.Val95Phe)
c.730G>T (p.Val244Phe)
7g.99767196C>GCA368370295CYP3A4c.733G>C (p.Val245Leu)
n.168G>C
c.274G>C (p.Val92Leu)
c.586G>C (p.Val196Leu)
c.283G>C (p.Val95Leu)
c.730G>C (p.Val244Leu)
7g.99767196C>TCA368370296CYP3A4c.733G>A (p.Val245Ile)
n.168G>A
c.274G>A (p.Val92Ile)
c.586G>A (p.Val196Ile)
c.283G>A (p.Val95Ile)
c.730G>A (p.Val244Ile)
7g.99767197T>ACA368370297CYP3A4c.732A>T (p.Glu244Asp)
n.167A>T
c.273A>T (p.Glu91Asp)
c.585A>T (p.Glu195Asp)
c.282A>T (p.Glu94Asp)
c.729A>T (p.Glu243Asp)
7g.99767197T>CCA456689799CYP3A4c.732A>G (p.Glu244=)
n.167A>G
c.273A>G (p.Glu91=)
c.585A>G (p.Glu195=)
c.282A>G (p.Glu94=)
c.729A>G (p.Glu243=)
7g.99767197T>GCA368370298CYP3A4c.732A>C (p.Glu244Asp)
n.167A>C
c.273A>C (p.Glu91Asp)
c.585A>C (p.Glu195Asp)
c.282A>C (p.Glu94Asp)
c.729A>C (p.Glu243Asp)
7g.99767198T>ACA368370299CYP3A4c.731A>T (p.Glu244Val)
n.166A>T
c.272A>T (p.Glu91Val)
c.584A>T (p.Glu195Val)
c.281A>T (p.Glu94Val)
c.728A>T (p.Glu243Val)
7g.99767198T>CCA368370300CYP3A4c.731A>G (p.Glu244Gly)
n.166A>G
c.272A>G (p.Glu91Gly)
c.584A>G (p.Glu195Gly)
c.281A>G (p.Glu94Gly)
c.728A>G (p.Glu243Gly)
7g.99767198T>GCA368370301CYP3A4c.731A>C (p.Glu244Ala)
n.166A>C
c.272A>C (p.Glu91Ala)
c.584A>C (p.Glu195Ala)
c.281A>C (p.Glu94Ala)
c.728A>C (p.Glu243Ala)
7g.99767199C>ACA368370302CYP3A4c.730G>T (p.Glu244Ter)
n.165G>T
c.271G>T (p.Glu91Ter)
c.583G>T (p.Glu195Ter)
c.280G>T (p.Glu94Ter)
c.727G>T (p.Glu243Ter)
gnomAD v4 COSMIC
7g.99767199C>GCA368370304CYP3A4c.730G>C (p.Glu244Gln)
n.165G>C
c.271G>C (p.Glu91Gln)
c.583G>C (p.Glu195Gln)
c.280G>C (p.Glu94Gln)
c.727G>C (p.Glu243Gln)
gnomAD v4
7g.99767199C>TCA368370303CYP3A4c.730G>A (p.Glu244Lys)
n.165G>A
c.271G>A (p.Glu91Lys)
c.583G>A (p.Glu195Lys)
c.280G>A (p.Glu94Lys)
c.727G>A (p.Glu243Lys)
7g.99767200T>ACA368370305CYP3A4c.729A>T (p.Arg243Ser)
n.164A>T
c.270A>T (p.Arg90Ser)
c.582A>T (p.Arg194Ser)
c.279A>T (p.Arg93Ser)
c.726A>T (p.Arg242Ser)
7g.99767200T>CCA456689808CYP3A4c.729A>G (p.Arg243=)
n.164A>G
c.270A>G (p.Arg90=)
c.582A>G (p.Arg194=)
c.279A>G (p.Arg93=)
c.726A>G (p.Arg242=)
7g.99767200T>GCA368370306CYP3A4c.729A>C (p.Arg243Ser)
n.164A>C
c.270A>C (p.Arg90Ser)
c.582A>C (p.Arg194Ser)
c.279A>C (p.Arg93Ser)
c.726A>C (p.Arg242Ser)
7g.99767201C>ACA368370307CYP3A4c.728G>T (p.Arg243Ile)
n.163G>T
c.269G>T (p.Arg90Ile)
c.581G>T (p.Arg194Ile)
c.278G>T (p.Arg93Ile)
c.725G>T (p.Arg242Ile)
7g.99767201C=CA1729180012CYP3A4c.728G= (p.Arg243=)
n.163G=
c.269G= (p.Arg90=)
c.581G= (p.Arg194=)
c.278G= (p.Arg93=)
c.725G= (p.Arg242=)
7g.99767201C>GCA4369654CYP3A4c.728G>C (p.Arg243Thr)
n.163G>C
c.269G>C (p.Arg90Thr)
c.581G>C (p.Arg194Thr)
c.278G>C (p.Arg93Thr)
c.725G>C (p.Arg242Thr)
dbSNP ExAC gnomAD v4
7g.99767201C>TCA368370308CYP3A4c.728G>A (p.Arg243Lys)
n.163G>A
c.269G>A (p.Arg90Lys)
c.581G>A (p.Arg194Lys)
c.278G>A (p.Arg93Lys)
c.725G>A (p.Arg242Lys)
7g.99767202T>ACA368370309CYP3A4c.727A>T (p.Arg243Ter)
n.162A>T
c.268A>T (p.Arg90Ter)
c.580A>T (p.Arg194Ter)
c.277A>T (p.Arg93Ter)
c.724A>T (p.Arg242Ter)
7g.99767202T>CCA368370310CYP3A4c.727A>G (p.Arg243Gly)
n.162A>G
c.268A>G (p.Arg90Gly)
c.580A>G (p.Arg194Gly)
c.277A>G (p.Arg93Gly)
c.724A>G (p.Arg242Gly)
7g.99767202T>GCA456689818CYP3A4c.727A>C (p.Arg243=)
n.162A>C
c.268A>C (p.Arg90=)
c.580A>C (p.Arg194=)
c.277A>C (p.Arg93=)
c.724A>C (p.Arg242=)
7g.99767203T>ACA456689821CYP3A4c.726A>T (p.Pro242=)
n.161A>T
c.267A>T (p.Pro89=)
c.579A>T (p.Pro193=)
c.276A>T (p.Pro92=)
c.723A>T (p.Pro241=)
7g.99767203T>CCA456689823CYP3A4c.726A>G (p.Pro242=)
n.161A>G
c.267A>G (p.Pro89=)
c.579A>G (p.Pro193=)
c.276A>G (p.Pro92=)
c.723A>G (p.Pro241=)
7g.99767203T>GCA456689824CYP3A4c.726A>C (p.Pro242=)
n.161A>C
c.267A>C (p.Pro89=)
c.579A>C (p.Pro193=)
c.276A>C (p.Pro92=)
c.723A>C (p.Pro241=)
7g.99767204G>ACA163153088CYP3A4c.725C>T (p.Pro242Leu)
n.160C>T
c.266C>T (p.Pro89Leu)
c.578C>T (p.Pro193Leu)
c.275C>T (p.Pro92Leu)
c.722C>T (p.Pro241Leu)
dbSNP
7g.99767204G>CCA368370311CYP3A4c.725C>G (p.Pro242Arg)
n.160C>G
c.266C>G (p.Pro89Arg)
c.578C>G (p.Pro193Arg)
c.275C>G (p.Pro92Arg)
c.722C>G (p.Pro241Arg)
7g.99767204G=CA1729180015CYP3A4c.725C= (p.Pro242=)
n.160C=
c.266C= (p.Pro89=)
c.578C= (p.Pro193=)
c.275C= (p.Pro92=)
c.722C= (p.Pro241=)
7g.99767204G>TCA368370312CYP3A4c.725C>A (p.Pro242Gln)
n.160C>A
c.266C>A (p.Pro89Gln)
c.578C>A (p.Pro193Gln)
c.275C>A (p.Pro92Gln)
c.722C>A (p.Pro241Gln)
7g.99767205G>ACA368370314CYP3A4c.724C>T (p.Pro242Ser)
n.159C>T
c.265C>T (p.Pro89Ser)
c.577C>T (p.Pro193Ser)
c.274C>T (p.Pro92Ser)
c.721C>T (p.Pro241Ser)
COSMIC
7g.99767205G>CCA368370315CYP3A4c.724C>G (p.Pro242Ala)
n.159C>G
c.265C>G (p.Pro89Ala)
c.577C>G (p.Pro193Ala)
c.274C>G (p.Pro92Ala)
c.721C>G (p.Pro241Ala)
7g.99767205G>TCA368370313CYP3A4c.724C>A (p.Pro242Thr)
n.159C>A
c.265C>A (p.Pro89Thr)
c.577C>A (p.Pro193Thr)
c.274C>A (p.Pro92Thr)
c.721C>A (p.Pro241Thr)
7g.99767206A>CCA368370316CYP3A4c.723T>G (p.Phe241Leu)
n.158T>G
c.264T>G (p.Phe88Leu)
c.576T>G (p.Phe192Leu)
c.273T>G (p.Phe91Leu)
c.720T>G (p.Phe240Leu)
gnomAD v4
7g.99767206A>GCA456689831CYP3A4c.723T>C (p.Phe241=)
n.158T>C
c.264T>C (p.Phe88=)
c.576T>C (p.Phe192=)
c.273T>C (p.Phe91=)
c.720T>C (p.Phe240=)
gnomAD v4
7g.99767206A>TCA368370317CYP3A4c.723T>A (p.Phe241Leu)
n.158T>A
c.264T>A (p.Phe88Leu)
c.576T>A (p.Phe192Leu)
c.273T>A (p.Phe91Leu)
c.720T>A (p.Phe240Leu)
7g.99767207A>CCA368370318CYP3A4c.722T>G (p.Phe241Cys)
n.157T>G
c.263T>G (p.Phe88Cys)
c.575T>G (p.Phe192Cys)
c.272T>G (p.Phe91Cys)
c.719T>G (p.Phe240Cys)
7g.99767207A>GCA368370319CYP3A4c.722T>C (p.Phe241Ser)
n.157T>C
c.263T>C (p.Phe88Ser)
c.575T>C (p.Phe192Ser)
c.272T>C (p.Phe91Ser)
c.719T>C (p.Phe240Ser)
7g.99767207A>TCA368370320CYP3A4c.722T>A (p.Phe241Tyr)
n.157T>A
c.263T>A (p.Phe88Tyr)
c.575T>A (p.Phe192Tyr)
c.272T>A (p.Phe91Tyr)
c.719T>A (p.Phe240Tyr)
7g.99767207_99767209delinsAACCA1729180018CYP3A4c.720_722delinsGTT (p.Val240=)
n.155_157delinsGTT
c.261_263delinsGTT (p.Val87=)
c.573_575delinsGTT (p.Val191=)
c.270_272delinsGTT (p.Val90=)
c.717_719delinsGTT (p.Val239=)
7g.99767208A>CCA368370321CYP3A4c.721T>G (p.Phe241Val)
n.156T>G
c.262T>G (p.Phe88Val)
c.574T>G (p.Phe192Val)
c.271T>G (p.Phe91Val)
c.718T>G (p.Phe240Val)
7g.99767208A>GCA368370322CYP3A4c.721T>C (p.Phe241Leu)
n.156T>C
c.262T>C (p.Phe88Leu)
c.574T>C (p.Phe192Leu)
c.271T>C (p.Phe91Leu)
c.718T>C (p.Phe240Leu)
COSMIC
7g.99767208A>TCA368370323CYP3A4c.721T>A (p.Phe241Ile)
n.156T>A
c.262T>A (p.Phe88Ile)
c.574T>A (p.Phe192Ile)
c.271T>A (p.Phe91Ile)
c.718T>A (p.Phe240Ile)
7g.99767213_99767214delCA163153090CYP3A4c.720_721del (p.Phe241SerfsTer?)
n.155_156del
c.261_262del (p.Phe88SerfsTer?)
c.573_574del (p.Phe192SerfsTer?)
c.270_271del (p.Phe91SerfsTer?)
c.717_718del (p.Phe240SerfsTer?)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.99767209C>ACA456689838CYP3A4c.720G>T (p.Val240=)
n.155G>T
c.261G>T (p.Val87=)
c.573G>T (p.Val191=)
c.270G>T (p.Val90=)
c.717G>T (p.Val239=)
7g.99767209C=CA1729180023CYP3A4c.720G= (p.Val240=)
n.155G=
c.261G= (p.Val87=)
c.573G= (p.Val191=)
c.270G= (p.Val90=)
c.717G= (p.Val239=)
7g.99767209C>GCA456689840CYP3A4c.720G>C (p.Val240=)
n.155G>C
c.261G>C (p.Val87=)
c.573G>C (p.Val191=)
c.270G>C (p.Val90=)
c.717G>C (p.Val239=)
7g.99767209C>TCA456689839CYP3A4c.720G>A (p.Val240=)
n.155G>A
c.261G>A (p.Val87=)
c.573G>A (p.Val191=)
c.270G>A (p.Val90=)
c.717G>A (p.Val239=)
7g.99767210A>CCA368370324CYP3A4c.719T>G (p.Val240Gly)
n.154T>G
c.260T>G (p.Val87Gly)
c.572T>G (p.Val191Gly)
c.269T>G (p.Val90Gly)
c.716T>G (p.Val239Gly)
7g.99767210A>GCA368370325CYP3A4c.719T>C (p.Val240Ala)
n.154T>C
c.260T>C (p.Val87Ala)
c.572T>C (p.Val191Ala)
c.269T>C (p.Val90Ala)
c.716T>C (p.Val239Ala)
7g.99767210A>TCA368370326CYP3A4c.719T>A (p.Val240Glu)
n.154T>A
c.260T>A (p.Val87Glu)
c.572T>A (p.Val191Glu)
c.269T>A (p.Val90Glu)
c.716T>A (p.Val239Glu)
7g.99767210dupCA4369655CYP3A4c.719dup (p.Phe241ValfsTer?)
n.154dup
c.260dup (p.Phe88ValfsTer?)
c.572dup (p.Phe192ValfsTer?)
c.269dup (p.Phe91ValfsTer?)
c.716dup (p.Phe240ValfsTer?)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.99767211C>ACA368370328CYP3A4c.718G>T (p.Val240Leu)
n.153G>T
c.259G>T (p.Val87Leu)
c.571G>T (p.Val191Leu)
c.268G>T (p.Val90Leu)
c.715G>T (p.Val239Leu)
7g.99767211C>GCA368370329CYP3A4c.718G>C (p.Val240Leu)
n.153G>C
c.259G>C (p.Val87Leu)
c.571G>C (p.Val191Leu)
c.268G>C (p.Val90Leu)
c.715G>C (p.Val239Leu)
7g.99767211C>TCA368370327CYP3A4c.718G>A (p.Val240Met)
n.153G>A
c.259G>A (p.Val87Met)
c.571G>A (p.Val191Met)
c.268G>A (p.Val90Met)
c.715G>A (p.Val239Met)
7g.99767212A=CA1729180026CYP3A4c.717T= (p.Cys239=)
n.152T=
c.258T= (p.Cys86=)
c.570T= (p.Cys190=)
c.267T= (p.Cys89=)
c.714T= (p.Cys238=)
7g.99767212A>CCA368370330CYP3A4c.717T>G (p.Cys239Trp)
n.152T>G
c.258T>G (p.Cys86Trp)
c.570T>G (p.Cys190Trp)
c.267T>G (p.Cys89Trp)
c.714T>G (p.Cys238Trp)
7g.99767212A>GCA456689847CYP3A4c.717T>C (p.Cys239=)
n.152T>C
c.258T>C (p.Cys86=)
c.570T>C (p.Cys190=)
c.267T>C (p.Cys89=)
c.714T>C (p.Cys238=)
dbSNP gnomAD v3 gnomAD v4
7g.99767212A>TCA368370331CYP3A4c.717T>A (p.Cys239Ter)
n.152T>A
c.258T>A (p.Cys86Ter)
c.570T>A (p.Cys190Ter)
c.267T>A (p.Cys89Ter)
c.714T>A (p.Cys238Ter)
7g.99767212dupCA2557047655CYP3A4c.717dup (p.Val240CysfsTer?)
n.152dup
c.258dup (p.Val87CysfsTer?)
c.570dup (p.Val191CysfsTer?)
c.267dup (p.Val90CysfsTer?)
c.714dup (p.Val239CysfsTer?)
7g.99767213C>ACA4369656CYP3A4c.716G>T (p.Cys239Phe)
n.151G>T
c.257G>T (p.Cys86Phe)
c.569G>T (p.Cys190Phe)
c.266G>T (p.Cys89Phe)
c.713G>T (p.Cys238Phe)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.99767213C=CA1729180029CYP3A4c.716G= (p.Cys239=)
n.151G=
c.257G= (p.Cys86=)
c.569G= (p.Cys190=)
c.266G= (p.Cys89=)
c.713G= (p.Cys238=)
7g.99767213C>GCA368370332CYP3A4c.716G>C (p.Cys239Ser)
n.151G>C
c.257G>C (p.Cys86Ser)
c.569G>C (p.Cys190Ser)
c.266G>C (p.Cys89Ser)
c.713G>C (p.Cys238Ser)
7g.99767213C>TCA368370333CYP3A4c.716G>A (p.Cys239Tyr)
n.151G>A
c.257G>A (p.Cys86Tyr)
c.569G>A (p.Cys190Tyr)
c.266G>A (p.Cys89Tyr)
c.713G>A (p.Cys238Tyr)
7g.99767214A>CCA368370336CYP3A4c.715T>G (p.Cys239Gly)
n.150T>G
c.256T>G (p.Cys86Gly)
c.568T>G (p.Cys190Gly)
c.265T>G (p.Cys89Gly)
c.712T>G (p.Cys238Gly)
7g.99767214A>GCA368370335CYP3A4c.715T>C (p.Cys239Arg)
n.150T>C
c.256T>C (p.Cys86Arg)
c.568T>C (p.Cys190Arg)
c.265T>C (p.Cys89Arg)
c.712T>C (p.Cys238Arg)
7g.99767214A>TCA368370334CYP3A4c.715T>A (p.Cys239Ser)
n.150T>A
c.256T>A (p.Cys86Ser)
c.568T>A (p.Cys190Ser)
c.265T>A (p.Cys89Ser)
c.712T>A (p.Cys238Ser)
7g.99767215G>ACA456689852CYP3A4c.714C>T (p.Ile238=)
n.149C>T
c.255C>T (p.Ile85=)
c.567C>T (p.Ile189=)
c.264C>T (p.Ile88=)
c.711C>T (p.Ile237=)
7g.99767215G>CCA368370337CYP3A4c.714C>G (p.Ile238Met)
n.149C>G
c.255C>G (p.Ile85Met)
c.567C>G (p.Ile189Met)
c.264C>G (p.Ile88Met)
c.711C>G (p.Ile237Met)
7g.99767215G>TCA456689856CYP3A4c.714C>A (p.Ile238=)
n.149C>A
c.255C>A (p.Ile85=)
c.567C>A (p.Ile189=)
c.264C>A (p.Ile88=)
c.711C>A (p.Ile237=)
7g.99767216A=CA1729180033CYP3A4c.713T= (p.Ile238=)
n.148T=
c.254T= (p.Ile85=)
c.566T= (p.Ile189=)
c.263T= (p.Ile88=)
c.710T= (p.Ile237=)
7g.99767216A>CCA368370338CYP3A4c.713T>G (p.Ile238Ser)
n.148T>G
c.254T>G (p.Ile85Ser)
c.566T>G (p.Ile189Ser)
c.263T>G (p.Ile88Ser)
c.710T>G (p.Ile237Ser)
7g.99767216A>GCA4369657CYP3A4c.713T>C (p.Ile238Thr)
n.148T>C
c.254T>C (p.Ile85Thr)
c.566T>C (p.Ile189Thr)
c.263T>C (p.Ile88Thr)
c.710T>C (p.Ile237Thr)
dbSNP ExAC gnomAD v2 gnomAD v4
7g.99767216A>TCA368370339CYP3A4c.713T>A (p.Ile238Asn)
n.148T>A
c.254T>A (p.Ile85Asn)
c.566T>A (p.Ile189Asn)
c.263T>A (p.Ile88Asn)
c.710T>A (p.Ile237Asn)
7g.99767217T>ACA368370340CYP3A4c.712A>T (p.Ile238Phe)
n.147A>T
c.253A>T (p.Ile85Phe)
c.565A>T (p.Ile189Phe)
c.262A>T (p.Ile88Phe)
c.709A>T (p.Ile237Phe)
7g.99767217T>CCA368370341CYP3A4c.712A>G (p.Ile238Val)
n.147A>G
c.253A>G (p.Ile85Val)
c.565A>G (p.Ile189Val)
c.262A>G (p.Ile88Val)
c.709A>G (p.Ile237Val)
7g.99767217T>GCA368370342CYP3A4c.712A>C (p.Ile238Leu)
n.147A>C
c.253A>C (p.Ile85Leu)
c.565A>C (p.Ile189Leu)
c.262A>C (p.Ile88Leu)
c.709A>C (p.Ile237Leu)
7g.99767218A>CCA368370344CYP3A4c.711T>G (p.Asn237Lys)
n.146T>G
c.252T>G (p.Asn84Lys)
c.564T>G (p.Asn188Lys)
c.261T>G (p.Asn87Lys)
c.708T>G (p.Asn236Lys)
7g.99767218A>GCA456689862CYP3A4c.711T>C (p.Asn237=)
n.146T>C
c.252T>C (p.Asn84=)
c.564T>C (p.Asn188=)
c.261T>C (p.Asn87=)
c.708T>C (p.Asn236=)
gnomAD v4
7g.99767218A>TCA368370343CYP3A4c.711T>A (p.Asn237Lys)
n.146T>A
c.252T>A (p.Asn84Lys)
c.564T>A (p.Asn188Lys)
c.261T>A (p.Asn87Lys)
c.708T>A (p.Asn236Lys)
7g.99767219T>ACA368370345CYP3A4c.710A>T (p.Asn237Ile)
n.145A>T
c.251A>T (p.Asn84Ile)
c.563A>T (p.Asn188Ile)
c.260A>T (p.Asn87Ile)
c.707A>T (p.Asn236Ile)
7g.99767219T>CCA368370347CYP3A4c.710A>G (p.Asn237Ser)
n.145A>G
c.251A>G (p.Asn84Ser)
c.563A>G (p.Asn188Ser)
c.260A>G (p.Asn87Ser)
c.707A>G (p.Asn236Ser)
7g.99767219T>GCA368370346CYP3A4c.710A>C (p.Asn237Thr)
n.145A>C
c.251A>C (p.Asn84Thr)
c.563A>C (p.Asn188Thr)
c.260A>C (p.Asn87Thr)
c.707A>C (p.Asn236Thr)
7g.99767220T>ACA368370348CYP3A4c.709A>T (p.Asn237Tyr)
n.144A>T
c.250A>T (p.Asn84Tyr)
c.562A>T (p.Asn188Tyr)
c.259A>T (p.Asn87Tyr)
c.706A>T (p.Asn236Tyr)
7g.99767220T>CCA368370350CYP3A4c.709A>G (p.Asn237Asp)
n.144A>G
c.250A>G (p.Asn84Asp)
c.562A>G (p.Asn188Asp)
c.259A>G (p.Asn87Asp)
c.706A>G (p.Asn236Asp)
7g.99767220T>GCA368370349CYP3A4c.709A>C (p.Asn237His)
n.144A>C
c.250A>C (p.Asn84His)
c.562A>C (p.Asn188His)
c.259A>C (p.Asn87His)
c.706A>C (p.Asn236His)
7g.99767221T>ACA368370351CYP3A4c.708A>T (p.Leu236Phe)
n.143A>T
c.249A>T (p.Leu83Phe)
c.561A>T (p.Leu187Phe)
c.258A>T (p.Leu86Phe)
c.705A>T (p.Leu235Phe)
7g.99767221T>CCA456689864CYP3A4c.708A>G (p.Leu236=)
n.143A>G
c.249A>G (p.Leu83=)
c.561A>G (p.Leu187=)
c.258A>G (p.Leu86=)
c.705A>G (p.Leu235=)
7g.99767221T>GCA368370352CYP3A4c.708A>C (p.Leu236Phe)
n.143A>C
c.249A>C (p.Leu83Phe)
c.561A>C (p.Leu187Phe)
c.258A>C (p.Leu86Phe)
c.705A>C (p.Leu235Phe)
7g.99767222A=CA1729180035CYP3A4c.707T= (p.Leu236=)
n.142T=
c.248T= (p.Leu83=)
c.560T= (p.Leu187=)
c.257T= (p.Leu86=)
c.704T= (p.Leu235=)
7g.99767222A>CCA368370353CYP3A4c.707T>G (p.Leu236Ter)
n.142T>G
c.248T>G (p.Leu83Ter)
c.560T>G (p.Leu187Ter)
c.257T>G (p.Leu86Ter)
c.704T>G (p.Leu235Ter)
dbSNP gnomAD v2
7g.99767222A>GCA368370354CYP3A4c.707T>C (p.Leu236Ser)
n.142T>C
c.248T>C (p.Leu83Ser)
c.560T>C (p.Leu187Ser)
c.257T>C (p.Leu86Ser)
c.704T>C (p.Leu235Ser)
7g.99767222A>TCA368370355CYP3A4c.707T>A (p.Leu236Ter)
n.142T>A
c.248T>A (p.Leu83Ter)
c.560T>A (p.Leu187Ter)
c.257T>A (p.Leu86Ter)
c.704T>A (p.Leu235Ter)
7g.99767223A>CCA368370356CYP3A4c.706T>G (p.Leu236Val)
n.141T>G
c.247T>G (p.Leu83Val)
c.559T>G (p.Leu187Val)
c.256T>G (p.Leu86Val)
c.703T>G (p.Leu235Val)
7g.99767223A>GCA456689868CYP3A4c.706T>C (p.Leu236=)
n.141T>C
c.247T>C (p.Leu83=)
c.559T>C (p.Leu187=)
c.256T>C (p.Leu86=)
c.703T>C (p.Leu235=)
gnomAD v4
7g.99767223A>TCA368370357CYP3A4c.706T>A (p.Leu236Ile)
n.141T>A
c.247T>A (p.Leu83Ile)
c.559T>A (p.Leu187Ile)
c.256T>A (p.Leu86Ile)
c.703T>A (p.Leu235Ile)
7g.99767224T>ACA456689870CYP3A4c.705A>T (p.Val235=)
n.140A>T
c.246A>T (p.Val82=)
c.558A>T (p.Val186=)
c.255A>T (p.Val85=)
c.702A>T (p.Val234=)
7g.99767224T>CCA456689872CYP3A4c.705A>G (p.Val235=)
n.140A>G
c.246A>G (p.Val82=)
c.558A>G (p.Val186=)
c.255A>G (p.Val85=)
c.702A>G (p.Val234=)
dbSNP
7g.99767224T>GCA456689873CYP3A4c.705A>C (p.Val235=)
n.140A>C
c.246A>C (p.Val82=)
c.558A>C (p.Val186=)
c.255A>C (p.Val85=)
c.702A>C (p.Val234=)
7g.99767224T=CA1729180038CYP3A4c.705A= (p.Val235=)
n.140A=
c.246A= (p.Val82=)
c.558A= (p.Val186=)
c.255A= (p.Val85=)
c.702A= (p.Val234=)
7g.99767225A=CA1729180039CYP3A4c.704T= (p.Val235=)
n.139T=
c.245T= (p.Val82=)
c.557T= (p.Val186=)
c.254T= (p.Val85=)
c.701T= (p.Val234=)
7g.99767225A>CCA368370358CYP3A4c.704T>G (p.Val235Gly)
n.139T>G
c.245T>G (p.Val82Gly)
c.557T>G (p.Val186Gly)
c.254T>G (p.Val85Gly)
c.701T>G (p.Val234Gly)
7g.99767225A>GCA4369658CYP3A4c.704T>C (p.Val235Ala)
n.139T>C
c.245T>C (p.Val82Ala)
c.557T>C (p.Val186Ala)
c.254T>C (p.Val85Ala)
c.701T>C (p.Val234Ala)
dbSNP ExAC gnomAD v2 gnomAD v4
7g.99767225A>TCA368370359CYP3A4c.704T>A (p.Val235Glu)
n.139T>A
c.245T>A (p.Val82Glu)
c.557T>A (p.Val186Glu)
c.254T>A (p.Val85Glu)
c.701T>A (p.Val234Glu)
7g.99767226C>ACA368370360CYP3A4c.703G>T (p.Val235Leu)
n.138G>T
c.244G>T (p.Val82Leu)
c.556G>T (p.Val186Leu)
c.253G>T (p.Val85Leu)
c.700G>T (p.Val234Leu)
7g.99767226C=CA1729180041CYP3A4c.703G= (p.Val235=)
n.138G=
c.244G= (p.Val82=)
c.556G= (p.Val186=)
c.253G= (p.Val85=)
c.700G= (p.Val234=)
7g.99767226C>GCA368370361CYP3A4c.703G>C (p.Val235Leu)
n.138G>C
c.244G>C (p.Val82Leu)
c.556G>C (p.Val186Leu)
c.253G>C (p.Val85Leu)
c.700G>C (p.Val234Leu)
7g.99767226C>TCA368370362CYP3A4c.703G>A (p.Val235Ile)
n.138G>A
c.244G>A (p.Val82Ile)
c.556G>A (p.Val186Ile)
c.253G>A (p.Val85Ile)
c.700G>A (p.Val234Ile)
dbSNP
7g.99767227T>ACA368370363CYP3A4c.702A>T (p.Glu234Asp)
n.137A>T
c.243A>T (p.Glu81Asp)
c.555A>T (p.Glu185Asp)
c.252A>T (p.Glu84Asp)
c.699A>T (p.Glu233Asp)
7g.99767227T>CCA456689879CYP3A4c.702A>G (p.Glu234=)
n.137A>G
c.243A>G (p.Glu81=)
c.555A>G (p.Glu185=)
c.252A>G (p.Glu84=)
c.699A>G (p.Glu233=)
7g.99767227T>GCA368370364CYP3A4c.702A>C (p.Glu234Asp)
n.137A>C
c.243A>C (p.Glu81Asp)
c.555A>C (p.Glu185Asp)
c.252A>C (p.Glu84Asp)
c.699A>C (p.Glu233Asp)
7g.99767228T>ACA368370365CYP3A4c.701A>T (p.Glu234Val)
n.136A>T
c.242A>T (p.Glu81Val)
c.554A>T (p.Glu185Val)
c.251A>T (p.Glu84Val)
c.698A>T (p.Glu233Val)
7g.99767228T>CCA368370366CYP3A4c.701A>G (p.Glu234Gly)
n.136A>G
c.242A>G (p.Glu81Gly)
c.554A>G (p.Glu185Gly)
c.251A>G (p.Glu84Gly)
c.698A>G (p.Glu233Gly)
dbSNP gnomAD v3 gnomAD v4
7g.99767228T>GCA368370367CYP3A4c.701A>C (p.Glu234Ala)
n.136A>C
c.242A>C (p.Glu81Ala)
c.554A>C (p.Glu185Ala)
c.251A>C (p.Glu84Ala)
c.698A>C (p.Glu233Ala)
7g.99767228T=CA1729180042CYP3A4c.701A= (p.Glu234=)
n.136A=
c.242A= (p.Glu81=)
c.554A= (p.Glu185=)
c.251A= (p.Glu84=)
c.698A= (p.Glu233=)
7g.99767229C>ACA368370368CYP3A4c.700G>T (p.Glu234Ter)
n.135G>T
c.241G>T (p.Glu81Ter)
c.553G>T (p.Glu185Ter)
c.250G>T (p.Glu84Ter)
c.697G>T (p.Glu233Ter)
7g.99767229C>GCA368370369CYP3A4c.700G>C (p.Glu234Gln)
n.135G>C
c.241G>C (p.Glu81Gln)
c.553G>C (p.Glu185Gln)
c.250G>C (p.Glu84Gln)
c.697G>C (p.Glu233Gln)
7g.99767229C>TCA368370370CYP3A4c.700G>A (p.Glu234Lys)
n.135G>A
c.241G>A (p.Glu81Lys)
c.553G>A (p.Glu185Lys)
c.250G>A (p.Glu84Lys)
c.697G>A (p.Glu233Lys)
7g.99767230A>CCA456689888CYP3A4c.699T>G (p.Leu233=)
n.134T>G
c.240T>G (p.Leu80=)
c.552T>G (p.Leu184=)
c.249T>G (p.Leu83=)
c.696T>G (p.Leu232=)
7g.99767230A>GCA456689890CYP3A4c.699T>C (p.Leu233=)
n.134T>C
c.240T>C (p.Leu80=)
c.552T>C (p.Leu184=)
c.249T>C (p.Leu83=)
c.696T>C (p.Leu232=)
7g.99767230A>TCA456689891CYP3A4c.699T>A (p.Leu233=)
n.134T>A
c.240T>A (p.Leu80=)
c.552T>A (p.Leu184=)
c.249T>A (p.Leu83=)
c.696T>A (p.Leu232=)
7g.99767231A=CA1729180045CYP3A4c.698T= (p.Leu233=)
n.133T=
c.239T= (p.Leu80=)
c.551T= (p.Leu184=)
c.248T= (p.Leu83=)
c.695T= (p.Leu232=)
7g.99767231A>CCA368370371CYP3A4c.698T>G (p.Leu233Arg)
n.133T>G
c.239T>G (p.Leu80Arg)
c.551T>G (p.Leu184Arg)
c.248T>G (p.Leu83Arg)
c.695T>G (p.Leu232Arg)
7g.99767231A>GCA163153099CYP3A4c.698T>C (p.Leu233Pro)
n.133T>C
c.239T>C (p.Leu80Pro)
c.551T>C (p.Leu184Pro)
c.248T>C (p.Leu83Pro)
c.695T>C (p.Leu232Pro)
dbSNP gnomAD v4
7g.99767231A>TCA368370372CYP3A4c.698T>A (p.Leu233His)
n.133T>A
c.239T>A (p.Leu80His)
c.551T>A (p.Leu184His)
c.248T>A (p.Leu83His)
c.695T>A (p.Leu232His)
7g.99767232G>ACA368370373CYP3A4c.697C>T (p.Leu233Phe)
n.132C>T
c.238C>T (p.Leu80Phe)
c.550C>T (p.Leu184Phe)
c.247C>T (p.Leu83Phe)
c.694C>T (p.Leu232Phe)
7g.99767232G>CCA368370374CYP3A4c.697C>G (p.Leu233Val)
n.132C>G
c.238C>G (p.Leu80Val)
c.550C>G (p.Leu184Val)
c.247C>G (p.Leu83Val)
c.694C>G (p.Leu232Val)
7g.99767232G>TCA368370375CYP3A4c.697C>A (p.Leu233Ile)
n.132C>A
c.238C>A (p.Leu80Ile)
c.550C>A (p.Leu184Ile)
c.247C>A (p.Leu83Ile)
c.694C>A (p.Leu232Ile)
gnomAD v4
7g.99767233A>CCA368370376CYP3A4c.696T>G (p.Ile232Met)
n.131T>G
c.237T>G (p.Ile79Met)
c.549T>G (p.Ile183Met)
c.246T>G (p.Ile82Met)
c.693T>G (p.Ile231Met)
7g.99767233A>GCA456689903CYP3A4c.696T>C (p.Ile232=)
n.131T>C
c.237T>C (p.Ile79=)
c.549T>C (p.Ile183=)
c.246T>C (p.Ile82=)
c.693T>C (p.Ile231=)
7g.99767233A>TCA456689901CYP3A4c.696T>A (p.Ile232=)
n.131T>A
c.237T>A (p.Ile79=)
c.549T>A (p.Ile183=)
c.246T>A (p.Ile82=)
c.693T>A (p.Ile231=)
7g.99767234A>CCA368370377CYP3A4c.695T>G (p.Ile232Ser)
n.130T>G
c.236T>G (p.Ile79Ser)
c.548T>G (p.Ile183Ser)
c.245T>G (p.Ile82Ser)
c.692T>G (p.Ile231Ser)
7g.99767234A>GCA368370379CYP3A4c.695T>C (p.Ile232Thr)
n.130T>C
c.236T>C (p.Ile79Thr)
c.548T>C (p.Ile183Thr)
c.245T>C (p.Ile82Thr)
c.692T>C (p.Ile231Thr)
7g.99767234A>TCA368370378CYP3A4c.695T>A (p.Ile232Asn)
n.130T>A
c.236T>A (p.Ile79Asn)
c.548T>A (p.Ile183Asn)
c.245T>A (p.Ile82Asn)
c.692T>A (p.Ile231Asn)
7g.99767235T>ACA368370380CYP3A4c.694A>T (p.Ile232Phe)
n.129A>T
c.235A>T (p.Ile79Phe)
c.547A>T (p.Ile183Phe)
c.244A>T (p.Ile82Phe)
c.691A>T (p.Ile231Phe)
7g.99767235T>CCA163153100CYP3A4c.694A>G (p.Ile232Val)
n.129A>G
c.235A>G (p.Ile79Val)
c.547A>G (p.Ile183Val)
c.244A>G (p.Ile82Val)
c.691A>G (p.Ile231Val)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.99767235T>GCA368370381CYP3A4c.694A>C (p.Ile232Leu)
n.129A>C
c.235A>C (p.Ile79Leu)
c.547A>C (p.Ile183Leu)
c.244A>C (p.Ile82Leu)
c.691A>C (p.Ile231Leu)
7g.99767235T=CA1729180047CYP3A4c.694A= (p.Ile232=)
n.129A=
c.235A= (p.Ile79=)
c.547A= (p.Ile183=)
c.244A= (p.Ile82=)
c.691A= (p.Ile231=)
7g.99767236T>ACA456689911CYP3A4c.693A>T (p.Pro231=)
n.128A>T
c.234A>T (p.Pro78=)
c.546A>T (p.Pro182=)
c.243A>T (p.Pro81=)
c.690A>T (p.Pro230=)
7g.99767236T>CCA456689914CYP3A4c.693A>G (p.Pro231=)
n.128A>G
c.234A>G (p.Pro78=)
c.546A>G (p.Pro182=)
c.243A>G (p.Pro81=)
c.690A>G (p.Pro230=)
7g.99767236T>GCA456689912CYP3A4c.693A>C (p.Pro231=)
n.128A>C
c.234A>C (p.Pro78=)
c.546A>C (p.Pro182=)
c.243A>C (p.Pro81=)
c.690A>C (p.Pro230=)
7g.99767237G>ACA368370382CYP3A4c.692C>T (p.Pro231Leu)
n.127C>T
c.233C>T (p.Pro78Leu)
c.545C>T (p.Pro182Leu)
c.242C>T (p.Pro81Leu)
c.689C>T (p.Pro230Leu)
dbSNP gnomAD v2 gnomAD v4
7g.99767237G>CCA368370383CYP3A4c.692C>G (p.Pro231Arg)
n.127C>G
c.233C>G (p.Pro78Arg)
c.545C>G (p.Pro182Arg)
c.242C>G (p.Pro81Arg)
c.689C>G (p.Pro230Arg)
7g.99767237G=CA1729180049CYP3A4c.692C= (p.Pro231=)
n.127C=
c.233C= (p.Pro78=)
c.545C= (p.Pro182=)
c.242C= (p.Pro81=)
c.689C= (p.Pro230=)
7g.99767237G>TCA368370384CYP3A4c.692C>A (p.Pro231Gln)
n.127C>A
c.233C>A (p.Pro78Gln)
c.545C>A (p.Pro182Gln)
c.242C>A (p.Pro81Gln)
c.689C>A (p.Pro230Gln)
gnomAD v4
7g.99767238G>ACA368370385CYP3A4c.691C>T (p.Pro231Ser)
n.126C>T
c.232C>T (p.Pro78Ser)
c.544C>T (p.Pro182Ser)
c.241C>T (p.Pro81Ser)
c.688C>T (p.Pro230Ser)
7g.99767238G>CCA368370386CYP3A4c.691C>G (p.Pro231Ala)
n.126C>G
c.232C>G (p.Pro78Ala)
c.544C>G (p.Pro182Ala)
c.241C>G (p.Pro81Ala)
c.688C>G (p.Pro230Ala)
7g.99767238G>TCA368370387CYP3A4c.691C>A (p.Pro231Thr)
n.126C>A
c.232C>A (p.Pro78Thr)
c.544C>A (p.Pro182Thr)
c.241C>A (p.Pro81Thr)
c.688C>A (p.Pro230Thr)
7g.99767239G>ACA456689926CYP3A4c.690C>T (p.Ile230=)
n.125C>T
c.231C>T (p.Ile77=)
c.543C>T (p.Ile181=)
c.240C>T (p.Ile80=)
c.687C>T (p.Ile229=)
7g.99767239G>CCA368370388CYP3A4c.690C>G (p.Ile230Met)
n.125C>G
c.231C>G (p.Ile77Met)
c.543C>G (p.Ile181Met)
c.240C>G (p.Ile80Met)
c.687C>G (p.Ile229Met)
7g.99767239G>TCA456689924CYP3A4c.690C>A (p.Ile230=)
n.125C>A
c.231C>A (p.Ile77=)
c.543C>A (p.Ile181=)
c.240C>A (p.Ile80=)
c.687C>A (p.Ile229=)
gnomAD v4
7g.99767240A>CCA368370389CYP3A4c.689T>G (p.Ile230Ser)
n.124T>G
c.230T>G (p.Ile77Ser)
c.542T>G (p.Ile181Ser)
c.239T>G (p.Ile80Ser)
c.686T>G (p.Ile229Ser)
7g.99767240A>GCA368370390CYP3A4c.689T>C (p.Ile230Thr)
n.124T>C
c.230T>C (p.Ile77Thr)
c.542T>C (p.Ile181Thr)
c.239T>C (p.Ile80Thr)
c.686T>C (p.Ile229Thr)
7g.99767240A>TCA368370391CYP3A4c.689T>A (p.Ile230Asn)
n.124T>A
c.230T>A (p.Ile77Asn)
c.542T>A (p.Ile181Asn)
c.239T>A (p.Ile80Asn)
c.686T>A (p.Ile229Asn)
7g.99767241T>ACA368370394CYP3A4c.688A>T (p.Ile230Phe)
n.123A>T
c.229A>T (p.Ile77Phe)
c.541A>T (p.Ile181Phe)
c.238A>T (p.Ile80Phe)
c.685A>T (p.Ile229Phe)
7g.99767241T>CCA368370392CYP3A4c.688A>G (p.Ile230Val)
n.123A>G
c.229A>G (p.Ile77Val)
c.541A>G (p.Ile181Val)
c.238A>G (p.Ile80Val)
c.685A>G (p.Ile229Val)
dbSNP gnomAD v3 gnomAD v4
7g.99767241T>GCA368370393CYP3A4c.688A>C (p.Ile230Leu)
n.123A>C
c.229A>C (p.Ile77Leu)
c.541A>C (p.Ile181Leu)
c.238A>C (p.Ile80Leu)
c.685A>C (p.Ile229Leu)
gnomAD v4
7g.99767241T=CA1729180051CYP3A4c.688A= (p.Ile230=)
n.123A=
c.229A= (p.Ile77=)
c.541A= (p.Ile181=)
c.238A= (p.Ile80=)
c.685A= (p.Ile229=)
7g.99767242G>ACA456689933CYP3A4c.687C>T (p.Leu229=)
n.122C>T
c.228C>T (p.Leu76=)
c.540C>T (p.Leu180=)
c.237C>T (p.Leu79=)
c.684C>T (p.Leu228=)
dbSNP
7g.99767242G>CCA456689937CYP3A4c.687C>G (p.Leu229=)
n.122C>G
c.228C>G (p.Leu76=)
c.540C>G (p.Leu180=)
c.237C>G (p.Leu79=)
c.684C>G (p.Leu228=)
7g.99767242G>TCA456689935CYP3A4c.687C>A (p.Leu229=)
n.122C>A
c.228C>A (p.Leu76=)
c.540C>A (p.Leu180=)
c.237C>A (p.Leu79=)
c.684C>A (p.Leu228=)
7g.99767243A=CA1729180054CYP3A4c.686T= (p.Leu229=)
n.121T=
c.227T= (p.Leu76=)
c.539T= (p.Leu180=)
c.236T= (p.Leu79=)
c.683T= (p.Leu228=)
7g.99767243A>CCA368370395CYP3A4c.686T>G (p.Leu229Arg)
n.121T>G
c.227T>G (p.Leu76Arg)
c.539T>G (p.Leu180Arg)
c.236T>G (p.Leu79Arg)
c.683T>G (p.Leu228Arg)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.99767243A>GCA368370396CYP3A4c.686T>C (p.Leu229Pro)
n.121T>C
c.227T>C (p.Leu76Pro)
c.539T>C (p.Leu180Pro)
c.236T>C (p.Leu79Pro)
c.683T>C (p.Leu228Pro)
7g.99767243A>TCA368370397CYP3A4c.686T>A (p.Leu229His)
n.121T>A
c.227T>A (p.Leu76His)
c.539T>A (p.Leu180His)
c.236T>A (p.Leu79His)
c.683T>A (p.Leu228His)
7g.99767244G>ACA368370398CYP3A4c.685C>T (p.Leu229Phe)
n.120C>T
c.226C>T (p.Leu76Phe)
c.538C>T (p.Leu180Phe)
c.235C>T (p.Leu79Phe)
c.682C>T (p.Leu228Phe)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.99767244G>CCA368370399CYP3A4c.685C>G (p.Leu229Val)
n.120C>G
c.226C>G (p.Leu76Val)
c.538C>G (p.Leu180Val)
c.235C>G (p.Leu79Val)
c.682C>G (p.Leu228Val)
7g.99767244G=CA1729180055CYP3A4c.685C= (p.Leu229=)
n.120C=
c.226C= (p.Leu76=)
c.538C= (p.Leu180=)
c.235C= (p.Leu79=)
c.682C= (p.Leu228=)
7g.99767244G>TCA368370400CYP3A4c.685C>A (p.Leu229Ile)
n.120C>A
c.226C>A (p.Leu76Ile)
c.538C>A (p.Leu180Ile)
c.235C>A (p.Leu79Ile)
c.682C>A (p.Leu228Ile)
7g.99767245G>ACA456689944CYP3A4c.684C>T (p.Phe228=)
n.119C>T
c.225C>T (p.Phe75=)
c.537C>T (p.Phe179=)
c.234C>T (p.Phe78=)
c.681C>T (p.Phe227=)
7g.99767245G>CCA368370401CYP3A4c.684C>G (p.Phe228Leu)
n.119C>G
c.225C>G (p.Phe75Leu)
c.537C>G (p.Phe179Leu)
c.234C>G (p.Phe78Leu)
c.681C>G (p.Phe227Leu)
7g.99767245G>TCA368370402CYP3A4c.684C>A (p.Phe228Leu)
n.119C>A
c.225C>A (p.Phe75Leu)
c.537C>A (p.Phe179Leu)
c.234C>A (p.Phe78Leu)
c.681C>A (p.Phe227Leu)
7g.99767246A>CCA368370403CYP3A4c.683T>G (p.Phe228Cys)
n.118T>G
c.224T>G (p.Phe75Cys)
c.536T>G (p.Phe179Cys)
c.233T>G (p.Phe78Cys)
c.680T>G (p.Phe227Cys)
7g.99767246A>GCA368370404CYP3A4c.683T>C (p.Phe228Ser)
n.118T>C
c.224T>C (p.Phe75Ser)
c.536T>C (p.Phe179Ser)
c.233T>C (p.Phe78Ser)
c.680T>C (p.Phe227Ser)
7g.99767246A>TCA368370405CYP3A4c.683T>A (p.Phe228Tyr)
n.118T>A
c.224T>A (p.Phe75Tyr)
c.536T>A (p.Phe179Tyr)
c.233T>A (p.Phe78Tyr)
c.680T>A (p.Phe227Tyr)
7g.99767247A=CA1729180057CYP3A4c.682T= (p.Phe228=)
n.117T=
c.223T= (p.Phe75=)
c.535T= (p.Phe179=)
c.232T= (p.Phe78=)
c.679T= (p.Phe227=)
7g.99767247A>CCA368370406CYP3A4c.682T>G (p.Phe228Val)
n.117T>G
c.223T>G (p.Phe75Val)
c.535T>G (p.Phe179Val)
c.232T>G (p.Phe78Val)
c.679T>G (p.Phe227Val)
7g.99767247A>GCA4369659CYP3A4c.682T>C (p.Phe228Leu)
n.117T>C
c.223T>C (p.Phe75Leu)
c.535T>C (p.Phe179Leu)
c.232T>C (p.Phe78Leu)
c.679T>C (p.Phe227Leu)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.99767247A>TCA368370407CYP3A4c.682T>A (p.Phe228Ile)
n.117T>A
c.223T>A (p.Phe75Ile)
c.535T>A (p.Phe179Ile)
c.232T>A (p.Phe78Ile)
c.679T>A (p.Phe227Ile)
7g.99767248T>ACA456689953CYP3A4c.681A>T (p.Pro227=)
n.116A>T
c.222A>T (p.Pro74=)
c.534A>T (p.Pro178=)
c.231A>T (p.Pro77=)
c.678A>T (p.Pro226=)
7g.99767248T>CCA4369660CYP3A4c.681A>G (p.Pro227=)
n.116A>G
c.222A>G (p.Pro74=)
c.534A>G (p.Pro178=)
c.231A>G (p.Pro77=)
c.678A>G (p.Pro226=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.99767248T>GCA456689956CYP3A4c.681A>C (p.Pro227=)
n.116A>C
c.222A>C (p.Pro74=)
c.534A>C (p.Pro178=)
c.231A>C (p.Pro77=)
c.678A>C (p.Pro226=)
7g.99767248T=CA1729180059CYP3A4c.681A= (p.Pro227=)
n.116A=
c.222A= (p.Pro74=)
c.534A= (p.Pro178=)
c.231A= (p.Pro77=)
c.678A= (p.Pro226=)
7g.99767249G>ACA368370410CYP3A4c.680C>T (p.Pro227Leu)
n.115C>T
c.221C>T (p.Pro74Leu)
c.533C>T (p.Pro178Leu)
c.230C>T (p.Pro77Leu)
c.677C>T (p.Pro226Leu)
dbSNP
7g.99767249G>CCA368370408CYP3A4c.680C>G (p.Pro227Arg)
n.115C>G
c.221C>G (p.Pro74Arg)
c.533C>G (p.Pro178Arg)
c.230C>G (p.Pro77Arg)
c.677C>G (p.Pro226Arg)
7g.99767249G=CA1729180063CYP3A4c.680C= (p.Pro227=)
n.115C=
c.221C= (p.Pro74=)
c.533C= (p.Pro178=)
c.230C= (p.Pro77=)
c.677C= (p.Pro226=)
7g.99767249G>TCA368370409CYP3A4c.680C>A (p.Pro227Gln)
n.115C>A
c.221C>A (p.Pro74Gln)
c.533C>A (p.Pro178Gln)
c.230C>A (p.Pro77Gln)
c.677C>A (p.Pro226Gln)
7g.99767250G>ACA368370411CYP3A4c.679C>T (p.Pro227Ser)
n.114C>T
c.220C>T (p.Pro74Ser)
c.532C>T (p.Pro178Ser)
c.229C>T (p.Pro77Ser)
c.676C>T (p.Pro226Ser)
gnomAD v4
7g.99767250G>CCA368370412CYP3A4c.679C>G (p.Pro227Ala)
n.114C>G
c.220C>G (p.Pro74Ala)
c.532C>G (p.Pro178Ala)
c.229C>G (p.Pro77Ala)
c.676C>G (p.Pro226Ala)
gnomAD v4
7g.99767250G=CA1729180065CYP3A4c.679C= (p.Pro227=)
n.114C=
c.220C= (p.Pro74=)
c.532C= (p.Pro178=)
c.229C= (p.Pro77=)
c.676C= (p.Pro226=)
7g.99767250G>TCA4369661CYP3A4c.679C>A (p.Pro227Thr)
n.114C>A
c.220C>A (p.Pro74Thr)
c.532C>A (p.Pro178Thr)
c.229C>A (p.Pro77Thr)
c.676C>A (p.Pro226Thr)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.99767251A>CCA368370413CYP3A4c.678T>G (p.Phe226Leu)
n.113T>G
c.219T>G (p.Phe73Leu)
c.531T>G (p.Phe177Leu)
c.228T>G (p.Phe76Leu)
c.675T>G (p.Phe225Leu)
7g.99767251A>GCA456689966CYP3A4c.678T>C (p.Phe226=)
n.113T>C
c.219T>C (p.Phe73=)
c.531T>C (p.Phe177=)
c.228T>C (p.Phe76=)
c.675T>C (p.Phe225=)
7g.99767251A>TCA368370414CYP3A4c.678T>A (p.Phe226Leu)
n.113T>A
c.219T>A (p.Phe73Leu)
c.531T>A (p.Phe177Leu)
c.228T>A (p.Phe76Leu)
c.675T>A (p.Phe225Leu)
7g.99767252A>CCA368370415CYP3A4c.677T>G (p.Phe226Cys)
n.112T>G
c.218T>G (p.Phe73Cys)
c.530T>G (p.Phe177Cys)
c.227T>G (p.Phe76Cys)
c.674T>G (p.Phe225Cys)
7g.99767252A>GCA368370416CYP3A4c.677T>C (p.Phe226Ser)
n.112T>C
c.218T>C (p.Phe73Ser)
c.530T>C (p.Phe177Ser)
c.227T>C (p.Phe76Ser)
c.674T>C (p.Phe225Ser)
7g.99767252A>TCA368370417CYP3A4c.677T>A (p.Phe226Tyr)
n.112T>A
c.218T>A (p.Phe73Tyr)
c.530T>A (p.Phe177Tyr)
c.227T>A (p.Phe76Tyr)
c.674T>A (p.Phe225Tyr)
7g.99767253A=CA1729180067CYP3A4c.676T= (p.Phe226=)
n.111T=
c.217T= (p.Phe73=)
c.529T= (p.Phe177=)
c.226T= (p.Phe76=)
c.673T= (p.Phe225=)
7g.99767253A>CCA368370422CYP3A4c.676T>G (p.Phe226Val)
n.111T>G
c.217T>G (p.Phe73Val)
c.529T>G (p.Phe177Val)
c.226T>G (p.Phe76Val)
c.673T>G (p.Phe225Val)
7g.99767253A>GCA368370420CYP3A4c.676T>C (p.Phe226Leu)
n.111T>C
c.217T>C (p.Phe73Leu)
c.529T>C (p.Phe177Leu)
c.226T>C (p.Phe76Leu)
c.673T>C (p.Phe225Leu)
dbSNP gnomAD v3 gnomAD v4
7g.99767253A>TCA368370418CYP3A4c.676T>A (p.Phe226Ile)
n.111T>A
c.217T>A (p.Phe73Ile)
c.529T>A (p.Phe177Ile)
c.226T>A (p.Phe76Ile)
c.673T>A (p.Phe225Ile)
7g.99767254G>ACA456689975CYP3A4c.675C>T (p.Val225=)
n.110C>T
c.216C>T (p.Val72=)
c.528C>T (p.Val176=)
c.225C>T (p.Val75=)
c.672C>T (p.Ile224=)
7g.99767254G>CCA456689978CYP3A4c.675C>G (p.Val225=)
n.110C>G
c.216C>G (p.Val72=)
c.528C>G (p.Val176=)
c.225C>G (p.Val75=)
c.672C>G (p.Ile224Met)
7g.99767254G>TCA456689980CYP3A4c.675C>A (p.Val225=)
n.110C>A
c.216C>A (p.Val72=)
c.528C>A (p.Val176=)
c.225C>A (p.Val75=)
c.672C>A (p.Ile224=)
7g.99767255A>CCA368370424CYP3A4c.674T>G (p.Val225Gly)
n.109T>G
c.215T>G (p.Val72Gly)
c.527T>G (p.Val176Gly)
c.224T>G (p.Val75Gly)
c.671T>G (p.Ile224Ser)
gnomAD v4
7g.99767255A>GCA368370426CYP3A4c.674T>C (p.Val225Ala)
n.109T>C
c.215T>C (p.Val72Ala)
c.527T>C (p.Val176Ala)
c.224T>C (p.Val75Ala)
c.671T>C (p.Ile224Thr)
gnomAD v4
7g.99767255A>TCA368370427CYP3A4c.674T>A (p.Val225Asp)
n.109T>A
c.215T>A (p.Val72Asp)
c.527T>A (p.Val176Asp)
c.224T>A (p.Val75Asp)
c.671T>A (p.Ile224Asn)
gnomAD v4
7g.99767256C>ACA368370430CYP3A4c.673G>T (p.Val225Phe)
n.108G>T
c.214G>T (p.Val72Phe)
c.526G>T (p.Val176Phe)
c.223G>T (p.Val75Phe)
c.671-1G>T (n.671-1G>T)
7g.99767256C>GCA368370432CYP3A4c.673G>C (p.Val225Leu)
n.108G>C
c.214G>C (p.Val72Leu)
c.526G>C (p.Val176Leu)
c.223G>C (p.Val75Leu)
c.671-1G>C (n.671-1G>C)
7g.99767256C>TCA368370434CYP3A4c.673G>A (p.Val225Ile)
n.108G>A
c.214G>A (p.Val72Ile)
c.526G>A (p.Val176Ile)
c.223G>A (p.Val75Ile)
c.671-1G>A (n.671-1G>A)
7g.99767257T>ACA456689987CYP3A4c.672A>T (p.Thr224=)
n.107A>T
c.213A>T (p.Thr71=)
c.525A>T (p.Thr175=)
c.222A>T (p.Thr74=)
c.671-2A>T (n.671-2A>T)
7g.99767257T>CCA456689992CYP3A4c.672A>G (p.Thr224=)
n.107A>G
c.213A>G (p.Thr71=)
c.525A>G (p.Thr175=)
c.222A>G (p.Thr74=)
c.671-2A>G (n.671-2A>G)
gnomAD v4
7g.99767257T>GCA456689990CYP3A4c.672A>C (p.Thr224=)
n.107A>C
c.213A>C (p.Thr71=)
c.525A>C (p.Thr175=)
c.222A>C (p.Thr74=)
c.671-2A>C (n.671-2A>C)
7g.99767258G>ACA368370436CYP3A4c.671C>T (p.Thr224Ile)
n.106C>T
c.212C>T (p.Thr71Ile)
c.524C>T (p.Thr175Ile)
c.221C>T (p.Thr74Ile)
c.671-3C>T (n.671-3C>T)
dbSNP
7g.99767258G>CCA368370438CYP3A4c.671C>G (p.Thr224Arg)
n.106C>G
c.212C>G (p.Thr71Arg)
c.524C>G (p.Thr175Arg)
c.221C>G (p.Thr74Arg)
c.671-3C>G (n.671-3C>G)
7g.99767258G>TCA368370441CYP3A4c.671C>A (p.Thr224Lys)
n.106C>A
c.212C>A (p.Thr71Lys)
c.524C>A (p.Thr175Lys)
c.221C>A (p.Thr74Lys)
c.671-3C>A (n.671-3C>A)
gnomAD v4
7g.99767259C>ACA368370443CYP3A4c.671-1G>T (n.671-1G>T)
n.106-1G>T
c.212-1G>T (n.212-1G>T)
c.524-1G>T (n.524-1G>T)
c.221-1G>T (n.221-1G>T)
c.671-4G>T (n.671-4G>T)
gnomAD v4
7g.99767259C>GCA368370445CYP3A4c.671-1G>C (n.671-1G>C)
n.106-1G>C
c.212-1G>C (n.212-1G>C)
c.524-1G>C (n.524-1G>C)
c.221-1G>C (n.221-1G>C)
c.671-4G>C (n.671-4G>C)
7g.99767259C>TCA368370447CYP3A4c.671-1G>A (n.671-1G>A)
n.106-1G>A
c.212-1G>A (n.212-1G>A)
c.524-1G>A (n.524-1G>A)
c.221-1G>A (n.221-1G>A)
c.671-4G>A (n.671-4G>A)
gnomAD v4
7g.99767260T>ACA368370452CYP3A4c.671-2A>T (n.671-2A>T)
n.106-2A>T
c.212-2A>T (n.212-2A>T)
c.524-2A>T (n.524-2A>T)
c.221-2A>T (n.221-2A>T)
c.671-5A>T (n.671-5A>T)
7g.99767260T>CCA368370454CYP3A4c.671-2A>G (n.671-2A>G)
n.106-2A>G
c.212-2A>G (n.212-2A>G)
c.524-2A>G (n.524-2A>G)
c.221-2A>G (n.221-2A>G)
c.671-5A>G (n.671-5A>G)
7g.99767260T>GCA368370449CYP3A4c.671-2A>C (n.671-2A>C)
n.106-2A>C
c.212-2A>C (n.212-2A>C)
c.524-2A>C (n.524-2A>C)
c.221-2A>C (n.221-2A>C)
c.671-5A>C (n.671-5A>C)
gnomAD v4
7g.99767261G>ACA4369662CYP3A4c.671-3C>T (n.671-3C>T)
n.106-3C>T
c.212-3C>T (n.212-3C>T)
c.524-3C>T (n.524-3C>T)
c.221-3C>T (n.221-3C>T)
c.671-6C>T (n.671-6C>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.99767261G=CA1729180069CYP3A4c.671-3C= (n.671-3C=)
n.106-3C=
c.212-3C= (n.212-3C=)
c.524-3C= (n.524-3C=)
c.221-3C= (n.221-3C=)
c.671-6C= (n.671-6C=)

Number of alleles fetched