Chr Mutation (hg38) CAid Gene Transcript Linkouts
8g.64616120A>CCA371335792CYP7B1c.421T>G (p.Cys141Gly)
c.487T>G (p.Cys163Gly)
8g.64616120A>GCA371335793CYP7B1c.421T>C (p.Cys141Arg)
c.487T>C (p.Cys163Arg)
8g.64616120A>TCA371335794CYP7B1c.421T>A (p.Cys141Ser)
c.487T>A (p.Cys163Ser)
8g.64616120dupCA2573143286CYP7B1c.421dup (p.Cys141LeufsTer26)
c.487dup (p.Cys163LeufsTer26)
ClinVar dbSNP
8g.64616121G>ACA461420436CYP7B1c.420C>T (p.Leu140=)
c.486C>T (p.Leu162=)
8g.64616121G>CCA461420437CYP7B1c.420C>G (p.Leu140=)
c.486C>G (p.Leu162=)
8g.64616121G>TCA461420438CYP7B1c.420C>A (p.Leu140=)
c.486C>A (p.Leu162=)
8g.64616122A>CCA371335795CYP7B1c.419T>G (p.Leu140Arg)
c.485T>G (p.Leu162Arg)
8g.64616122A>GCA371335797CYP7B1c.419T>C (p.Leu140Pro)
c.485T>C (p.Leu162Pro)
8g.64616122A>TCA371335796CYP7B1c.419T>A (p.Leu140His)
c.485T>A (p.Leu162His)
8g.64616123G>ACA371335798CYP7B1c.418C>T (p.Leu140Phe)
c.484C>T (p.Leu162Phe)
ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
8g.64616123G>CCA371335799CYP7B1c.418C>G (p.Leu140Val)
c.484C>G (p.Leu162Val)
8g.64616123G=CA1789664465CYP7B1c.418C= (p.Leu140=)
c.484C= (p.Leu162=)
8g.64616123G>TCA371335800CYP7B1c.418C>A (p.Leu140Ile)
c.484C>A (p.Leu162Ile)
8g.64616124delCA2740095057CYP7B1c.418del (p.Leu140SerfsTer18)
c.484del (p.Leu162SerfsTer18)
ClinVar
8g.64616124G>ACA461421859CYP7B1c.417C>T (p.His139=)
c.483C>T (p.His161=)
8g.64616124G>CCA371335801CYP7B1c.417C>G (p.His139Gln)
c.483C>G (p.His161Gln)
gnomAD v4
8g.64616124G>TCA371335802CYP7B1c.417C>A (p.His139Gln)
c.483C>A (p.His161Gln)
8g.64616125T>ACA371335803CYP7B1c.416A>T (p.His139Leu)
c.482A>T (p.His161Leu)
ClinVar
8g.64616125T>CCA371335804CYP7B1c.416A>G (p.His139Arg)
c.482A>G (p.His161Arg)
8g.64616125T>GCA371335805CYP7B1c.416A>C (p.His139Pro)
c.482A>C (p.His161Pro)
8g.64616126G>ACA371335806CYP7B1c.415C>T (p.His139Tyr)
c.481C>T (p.His161Tyr)
8g.64616126G>CCA371335807CYP7B1c.415C>G (p.His139Asp)
c.481C>G (p.His161Asp)
8g.64616126G>TCA371335808CYP7B1c.415C>A (p.His139Asn)
c.481C>A (p.His161Asn)
8g.64616127A>CCA461421875CYP7B1c.414T>G (p.Leu138=)
c.480T>G (p.Leu160=)
8g.64616127A>GCA461421877CYP7B1c.414T>C (p.Leu138=)
c.480T>C (p.Leu160=)
8g.64616127A>TCA461421878CYP7B1c.414T>A (p.Leu138=)
c.480T>A (p.Leu160=)
8g.64616128A>CCA371335809CYP7B1c.413T>G (p.Leu138Arg)
c.479T>G (p.Leu160Arg)
8g.64616128A>GCA371335811CYP7B1c.413T>C (p.Leu138Pro)
c.479T>C (p.Leu160Pro)
COSMIC
8g.64616128A>TCA371335810CYP7B1c.413T>A (p.Leu138His)
c.479T>A (p.Leu160His)
8g.64616129G>ACA371335812CYP7B1c.412C>T (p.Leu138Phe)
c.478C>T (p.Leu160Phe)
gnomAD v4
8g.64616129G>CCA371335813CYP7B1c.412C>G (p.Leu138Val)
c.478C>G (p.Leu160Val)
8g.64616129G>TCA371335814CYP7B1c.412C>A (p.Leu138Ile)
c.478C>A (p.Leu160Ile)
gnomAD v4
8g.64616130C>ACA371335815CYP7B1c.411G>T (p.Glu137Asp)
c.477G>T (p.Glu159Asp)
8g.64616130C=CA1789664466CYP7B1c.411G= (p.Glu137=)
c.477G= (p.Glu159=)
8g.64616130C>GCA371335816CYP7B1c.411G>C (p.Glu137Asp)
c.477G>C (p.Glu159Asp)
8g.64616130C>TCA461421891CYP7B1c.411G>A (p.Glu137=)
c.477G>A (p.Glu159=)
dbSNP gnomAD v2 gnomAD v4
8g.64616131T>ACA371335817CYP7B1c.410A>T (p.Glu137Val)
c.476A>T (p.Glu159Val)
8g.64616131T>CCA178389760CYP7B1c.410A>G (p.Glu137Gly)
c.476A>G (p.Glu159Gly)
dbSNP gnomAD v4
8g.64616131T>GCA371335818CYP7B1c.410A>C (p.Glu137Ala)
c.476A>C (p.Glu159Ala)
8g.64616131T=CA1789664467CYP7B1c.410A= (p.Glu137=)
c.476A= (p.Glu159=)
8g.64616132C>ACA371335819CYP7B1c.409G>T (p.Glu137Ter)
c.475G>T (p.Glu159Ter)
8g.64616132C=CA1789664468CYP7B1c.409G= (p.Glu137=)
c.475G= (p.Glu159=)
8g.64616132C>GCA371335821CYP7B1c.409G>C (p.Glu137Gln)
c.475G>C (p.Glu159Gln)
8g.64616132C>TCA371335820CYP7B1c.409G>A (p.Glu137Lys)
c.475G>A (p.Glu159Lys)
dbSNP gnomAD v2
8g.64616133A>CCA371335822CYP7B1c.408T>G (p.Asp136Glu)
c.474T>G (p.Asp158Glu)
8g.64616133A>GCA461421903CYP7B1c.408T>C (p.Asp136=)
c.474T>C (p.Asp158=)
8g.64616133A>TCA371335823CYP7B1c.408T>A (p.Asp136Glu)
c.474T>A (p.Asp158Glu)
8g.64616134T>ACA371335824CYP7B1c.407A>T (p.Asp136Val)
c.473A>T (p.Asp158Val)
8g.64616134T>CCA371335825CYP7B1c.407A>G (p.Asp136Gly)
c.473A>G (p.Asp158Gly)
gnomAD v4
8g.64616134T>GCA371335826CYP7B1c.407A>C (p.Asp136Ala)
c.473A>C (p.Asp158Ala)
8g.64616135C>ACA178389764CYP7B1c.406G>T (p.Asp136Tyr)
c.472G>T (p.Asp158Tyr)
dbSNP gnomAD v2 gnomAD v4
8g.64616135C=CA1789664469CYP7B1c.406G= (p.Asp136=)
c.472G= (p.Asp158=)
8g.64616135C>GCA371335828CYP7B1c.406G>C (p.Asp136His)
c.472G>C (p.Asp158His)
COSMIC
8g.64616135C>TCA371335827CYP7B1c.406G>A (p.Asp136Asn)
c.472G>A (p.Asp158Asn)
gnomAD v4
8g.64616136A=CA1789664470CYP7B1c.405T= (p.Asn135=)
c.471T= (p.Asn157=)
8g.64616136A>CCA371335829CYP7B1c.405T>G (p.Asn135Lys)
c.471T>G (p.Asn157Lys)
8g.64616136A>GCA4764214CYP7B1c.405T>C (p.Asn135=)
c.471T>C (p.Asn157=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8g.64616136A>TCA371335830CYP7B1c.405T>A (p.Asn135Lys)
c.471T>A (p.Asn157Lys)
8g.64616137T>ACA371335831CYP7B1c.404A>T (p.Asn135Ile)
c.470A>T (p.Asn157Ile)
8g.64616137T>CCA371335832CYP7B1c.404A>G (p.Asn135Ser)
c.470A>G (p.Asn157Ser)
gnomAD v4
8g.64616137T>GCA371335833CYP7B1c.404A>C (p.Asn135Thr)
c.470A>C (p.Asn157Thr)
8g.64616137_64616142delinsTTCATGCA1789664471CYP7B1c.399_404delinsCATGAA (p.Asp133=)
c.465_470delinsCATGAA (p.Asp155=)
8g.64616138T>ACA371335834CYP7B1c.403A>T (p.Asn135Tyr)
c.469A>T (p.Asn157Tyr)
8g.64616138T>CCA4764215CYP7B1c.403A>G (p.Asn135Asp)
c.469A>G (p.Asn157Asp)
dbSNP ExAC gnomAD v2 gnomAD v4
8g.64616138T>GCA371335835CYP7B1c.403A>C (p.Asn135His)
c.469A>C (p.Asn157His)
8g.64616138T=CA1789664472CYP7B1c.403A= (p.Asn135=)
c.469A= (p.Asn157=)
8g.64616143_64616147delCA1139660590CYP7B1c.399_403del (p.Asp133GlufsTer2)
c.465_469del (p.Asp155GlufsTer2)
ClinVar dbSNP
8g.64616139C>ACA371335836CYP7B1c.402G>T (p.Met134Ile)
c.468G>T (p.Met156Ile)
8g.64616139C>GCA371335837CYP7B1c.402G>C (p.Met134Ile)
c.468G>C (p.Met156Ile)
8g.64616139C>TCA371335838CYP7B1c.402G>A (p.Met134Ile)
c.468G>A (p.Met156Ile)
ClinVar gnomAD v4
8g.64616140A>CCA371335839CYP7B1c.401T>G (p.Met134Arg)
c.467T>G (p.Met156Arg)
8g.64616140A>GCA371335841CYP7B1c.401T>C (p.Met134Thr)
c.467T>C (p.Met156Thr)
gnomAD v4
8g.64616140A>TCA371335840CYP7B1c.401T>A (p.Met134Lys)
c.467T>A (p.Met156Lys)
8g.64616141T>ACA371335842CYP7B1c.400A>T (p.Met134Leu)
c.466A>T (p.Met156Leu)
8g.64616141T>CCA371335843CYP7B1c.400A>G (p.Met134Val)
c.466A>G (p.Met156Val)
dbSNP gnomAD v4
8g.64616141T>GCA371335844CYP7B1c.400A>C (p.Met134Leu)
c.466A>C (p.Met156Leu)
8g.64616141T=CA1789664473CYP7B1c.400A= (p.Met134=)
c.466A= (p.Met156=)
8g.64616142G>ACA178389771CYP7B1c.399C>T (p.Asp133=)
c.465C>T (p.Asp155=)
dbSNP gnomAD v4
8g.64616142G>CCA371335845CYP7B1c.399C>G (p.Asp133Glu)
c.465C>G (p.Asp155Glu)
8g.64616142G=CA1789664474CYP7B1c.399C= (p.Asp133=)
c.465C= (p.Asp155=)
8g.64616142G>TCA371335846CYP7B1c.399C>A (p.Asp133Glu)
c.465C>A (p.Asp155Glu)
8g.64616143T>ACA371335849CYP7B1c.398A>T (p.Asp133Val)
c.464A>T (p.Asp155Val)
8g.64616143T>CCA371335847CYP7B1c.398A>G (p.Asp133Gly)
c.464A>G (p.Asp155Gly)
8g.64616143T>GCA371335848CYP7B1c.398A>C (p.Asp133Ala)
c.464A>C (p.Asp155Ala)
8g.64616144C>ACA371335850CYP7B1c.397G>T (p.Asp133Tyr)
c.463G>T (p.Asp155Tyr)
gnomAD v4
8g.64616144C>GCA371335851CYP7B1c.397G>C (p.Asp133His)
c.463G>C (p.Asp155His)
8g.64616144C>TCA371335852CYP7B1c.397G>A (p.Asp133Asn)
c.463G>A (p.Asp155Asn)
COSMIC
8g.64616145A>CCA371335853CYP7B1c.396T>G (p.His132Gln)
c.462T>G (p.His154Gln)
COSMIC
8g.64616145A>GCA461421943CYP7B1c.396T>C (p.His132=)
c.462T>C (p.His154=)
8g.64616145A>TCA371335854CYP7B1c.396T>A (p.His132Gln)
c.462T>A (p.His154Gln)
8g.64616146T>ACA371335855CYP7B1c.395A>T (p.His132Leu)
c.461A>T (p.His154Leu)
dbSNP
8g.64616146T>CCA371335857CYP7B1c.395A>G (p.His132Arg)
c.461A>G (p.His154Arg)
8g.64616146T>GCA371335856CYP7B1c.395A>C (p.His132Pro)
c.461A>C (p.His154Pro)
gnomAD v4
8g.64616147G>ACA4764216CYP7B1c.394C>T (p.His132Tyr)
c.460C>T (p.His154Tyr)
dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
8g.64616147G>CCA371335858CYP7B1c.394C>G (p.His132Asp)
c.460C>G (p.His154Asp)
8g.64616147G=CA1789664475CYP7B1c.394C= (p.His132=)
c.460C= (p.His154=)
8g.64616147G>TCA371335859CYP7B1c.394C>A (p.His132Asn)
c.460C>A (p.His154Asn)
8g.64616147_64616148insTCA645545662CYP7B1c.393_394insA (p.His132ThrfsTer2)
c.459_460insA (p.His154ThrfsTer2)
COSMIC
8g.64616148A>CCA371335860CYP7B1c.393T>G (p.Asn131Lys)
c.459T>G (p.Asn153Lys)
8g.64616148A>GCA461421952CYP7B1c.393T>C (p.Asn131=)
c.459T>C (p.Asn153=)
8g.64616148A>TCA371335861CYP7B1c.393T>A (p.Asn131Lys)
c.459T>A (p.Asn153Lys)
gnomAD v4
8g.64616148_64616149delinsATCA1789664476CYP7B1c.392_393delinsAT (p.Asn131=)
c.458_459delinsAT (p.Asn153=)
8g.64616149T>ACA371335862CYP7B1c.392A>T (p.Asn131Ile)
c.458A>T (p.Asn153Ile)
gnomAD v4
8g.64616149T>CCA4764219CYP7B1c.392A>G (p.Asn131Ser)
c.458A>G (p.Asn153Ser)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
8g.64616149T>GCA371335863CYP7B1c.392A>C (p.Asn131Thr)
c.458A>C (p.Asn153Thr)
8g.64616149T=CA1789664477CYP7B1c.392A= (p.Asn131=)
c.458A= (p.Asn153=)
8g.64616155dupCA4764218CYP7B1c.392dup (p.Asn131LysfsTer3)
c.458dup (p.Asn153LysfsTer3)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
8g.64616155delCA4764217CYP7B1c.392del (p.Asn131IlefsTer4)
c.458del (p.Asn153IlefsTer4)
dbSNP ExAC COSMIC
8g.64616149_64616150insACA461421965CYP7B1c.391_392insT (p.Asn131IlefsTer3)
c.457_458insT (p.Asn153IlefsTer3)
8g.64616150T>ACA371335864CYP7B1c.391A>T (p.Asn131Tyr)
c.457A>T (p.Asn153Tyr)
8g.64616150T>CCA371335866CYP7B1c.391A>G (p.Asn131Asp)
c.457A>G (p.Asn153Asp)
gnomAD v4
8g.64616150T>GCA371335865CYP7B1c.391A>C (p.Asn131His)
c.457A>C (p.Asn153His)
8g.64616151T>ACA371335867CYP7B1c.390A>T (p.Lys130Asn)
c.456A>T (p.Lys152Asn)
8g.64616151T>CCA461421970CYP7B1c.390A>G (p.Lys130=)
c.456A>G (p.Lys152=)
8g.64616151T>GCA371335868CYP7B1c.390A>C (p.Lys130Asn)
c.456A>C (p.Lys152Asn)
gnomAD v4 COSMIC
8g.64616152T>ACA371335869CYP7B1c.389A>T (p.Lys130Ile)
c.455A>T (p.Lys152Ile)
8g.64616152T>CCA371335870CYP7B1c.389A>G (p.Lys130Arg)
c.455A>G (p.Lys152Arg)
COSMIC
8g.64616152T>GCA371335871CYP7B1c.389A>C (p.Lys130Thr)
c.455A>C (p.Lys152Thr)
COSMIC
8g.64616153T>ACA371335872CYP7B1c.388A>T (p.Lys130Ter)
c.454A>T (p.Lys152Ter)
8g.64616153T>CCA371335873CYP7B1c.388A>G (p.Lys130Glu)
c.454A>G (p.Lys152Glu)
8g.64616153T>GCA371335874CYP7B1c.388A>C (p.Lys130Gln)
c.454A>C (p.Lys152Gln)
8g.64616154T>ACA371335875CYP7B1c.387A>T (p.Gln129His)
c.453A>T (p.Gln151His)
8g.64616154T>CCA461421979CYP7B1c.387A>G (p.Gln129=)
c.453A>G (p.Gln151=)
8g.64616154T>GCA371335876CYP7B1c.387A>C (p.Gln129His)
c.453A>C (p.Gln151His)
COSMIC
8g.64616155T>ACA371335877CYP7B1c.386A>T (p.Gln129Leu)
c.452A>T (p.Gln151Leu)
8g.64616155T>CCA371335878CYP7B1c.386A>G (p.Gln129Arg)
c.452A>G (p.Gln151Arg)
8g.64616155T>GCA371335879CYP7B1c.386A>C (p.Gln129Pro)
c.452A>C (p.Gln151Pro)
8g.64616156G>ACA371335882CYP7B1c.385C>T (p.Gln129Ter)
c.451C>T (p.Gln151Ter)
8g.64616156G>CCA371335881CYP7B1c.385C>G (p.Gln129Glu)
c.451C>G (p.Gln151Glu)
8g.64616156G>TCA371335880CYP7B1c.385C>A (p.Gln129Lys)
c.451C>A (p.Gln151Lys)
gnomAD v4
8g.64616157C>ACA371335883CYP7B1c.384G>T (p.Leu128Phe)
c.450G>T (p.Leu150Phe)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.64616157C=CA1789664478CYP7B1c.384G= (p.Leu128=)
c.450G= (p.Leu150=)
8g.64616157C>GCA371335884CYP7B1c.384G>C (p.Leu128Phe)
c.450G>C (p.Leu150Phe)
8g.64616157C>TCA461421989CYP7B1c.384G>A (p.Leu128=)
c.450G>A (p.Leu150=)
8g.64616158A>CCA371335885CYP7B1c.383T>G (p.Leu128Trp)
c.449T>G (p.Leu150Trp)
8g.64616158A>GCA371335886CYP7B1c.383T>C (p.Leu128Ser)
c.449T>C (p.Leu150Ser)
8g.64616158A>TCA371335887CYP7B1c.383T>A (p.Leu128Ter)
c.449T>A (p.Leu150Ter)
8g.64616159A>CCA371335888CYP7B1c.382T>G (p.Leu128Val)
c.448T>G (p.Leu150Val)
8g.64616159A>GCA461421995CYP7B1c.382T>C (p.Leu128=)
c.448T>C (p.Leu150=)
8g.64616159A>TCA371335889CYP7B1c.382T>A (p.Leu128Met)
c.448T>A (p.Leu150Met)
8g.64616160C>ACA371335890CYP7B1c.381G>T (p.Gln127His)
c.447G>T (p.Gln149His)
gnomAD v4
8g.64616160C=CA1789664479CYP7B1c.381G= (p.Gln127=)
c.447G= (p.Gln149=)
8g.64616160C>GCA371335891CYP7B1c.381G>C (p.Gln127His)
c.447G>C (p.Gln149His)
8g.64616160C>TCA461422000CYP7B1c.381G>A (p.Gln127=)
c.447G>A (p.Gln149=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.64616161T>ACA371335892CYP7B1c.380A>T (p.Gln127Leu)
c.446A>T (p.Gln149Leu)
8g.64616161T>CCA371335893CYP7B1c.380A>G (p.Gln127Arg)
c.446A>G (p.Gln149Arg)
8g.64616161T>GCA371335894CYP7B1c.380A>C (p.Gln127Pro)
c.446A>C (p.Gln149Pro)
8g.64616162G>ACA371335896CYP7B1c.379C>T (p.Gln127Ter)
c.445C>T (p.Gln149Ter)
8g.64616162G>CCA4764220CYP7B1c.379C>G (p.Gln127Glu)
c.445C>G (p.Gln149Glu)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.64616162G=CA1789664480CYP7B1c.379C= (p.Gln127=)
c.445C= (p.Gln149=)
8g.64616162G>TCA371335895CYP7B1c.379C>A (p.Gln127Lys)
c.445C>A (p.Gln149Lys)
gnomAD v4
8g.64616163A>CCA371335897CYP7B1c.378T>G (p.Ser126Arg)
c.444T>G (p.Ser148Arg)
8g.64616163A>GCA461422010CYP7B1c.378T>C (p.Ser126=)
c.444T>C (p.Ser148=)
8g.64616163A>TCA371335898CYP7B1c.378T>A (p.Ser126Arg)
c.444T>A (p.Ser148Arg)
8g.64616164C>ACA371335899CYP7B1c.377G>T (p.Ser126Ile)
c.443G>T (p.Ser148Ile)
8g.64616164C=CA1789664481CYP7B1c.377G= (p.Ser126=)
c.443G= (p.Ser148=)
8g.64616164C>GCA371335900CYP7B1c.377G>C (p.Ser126Thr)
c.443G>C (p.Ser148Thr)
8g.64616164C>TCA371335901CYP7B1c.377G>A (p.Ser126Asn)
c.443G>A (p.Ser148Asn)
dbSNP COSMIC
8g.64616165T>ACA371335902CYP7B1c.376A>T (p.Ser126Cys)
c.442A>T (p.Ser148Cys)
8g.64616165T>CCA371335903CYP7B1c.376A>G (p.Ser126Gly)
c.442A>G (p.Ser148Gly)
8g.64616165T>GCA371335904CYP7B1c.376A>C (p.Ser126Arg)
c.442A>C (p.Ser148Arg)
8g.64616166G>ACA4764221CYP7B1c.375C>T (p.Ile125=)
c.441C>T (p.Ile147=)
dbSNP ExAC gnomAD v2 gnomAD v4
8g.64616166G>CCA371335907CYP7B1c.375C>G (p.Ile125Met)
c.441C>G (p.Ile147Met)
8g.64616166G=CA1789664482CYP7B1c.375C= (p.Ile125=)
c.441C= (p.Ile147=)
8g.64616166G>TCA461422020CYP7B1c.375C>A (p.Ile125=)
c.441C>A (p.Ile147=)
dbSNP gnomAD v2 gnomAD v4
8g.64616167A>CCA371335911CYP7B1c.374T>G (p.Ile125Ser)
c.440T>G (p.Ile147Ser)
8g.64616167A>GCA371335913CYP7B1c.374T>C (p.Ile125Thr)
c.440T>C (p.Ile147Thr)
8g.64616167A>TCA371335915CYP7B1c.374T>A (p.Ile125Asn)
c.440T>A (p.Ile147Asn)
8g.64616168T>ACA371335918CYP7B1c.373A>T (p.Ile125Phe)
c.439A>T (p.Ile147Phe)
8g.64616168T>CCA371335923CYP7B1c.373A>G (p.Ile125Val)
c.439A>G (p.Ile147Val)
dbSNP gnomAD v4
8g.64616168T>GCA371335921CYP7B1c.373A>C (p.Ile125Leu)
c.439A>C (p.Ile147Leu)
8g.64616168T=CA1789664483CYP7B1c.373A= (p.Ile125=)
c.439A= (p.Ile147=)
8g.64616169G>ACA461422032CYP7B1c.372C>T (p.Ser124=)
c.438C>T (p.Ser146=)
8g.64616169G>CCA371335926CYP7B1c.372C>G (p.Ser124Arg)
c.438C>G (p.Ser146Arg)
8g.64616169G>TCA371335928CYP7B1c.372C>A (p.Ser124Arg)
c.438C>A (p.Ser146Arg)
gnomAD v4
8g.64616170C>ACA371335931CYP7B1c.371G>T (p.Ser124Ile)
c.437G>T (p.Ser146Ile)
8g.64616170C>GCA371335932CYP7B1c.371G>C (p.Ser124Thr)
c.437G>C (p.Ser146Thr)
8g.64616170C>TCA371335934CYP7B1c.371G>A (p.Ser124Asn)
c.437G>A (p.Ser146Asn)
gnomAD v4
8g.64616171T>ACA371335938CYP7B1c.370A>T (p.Ser124Cys)
c.436A>T (p.Ser146Cys)
8g.64616171T>CCA371335940CYP7B1c.370A>G (p.Ser124Gly)
c.436A>G (p.Ser146Gly)
gnomAD v4
8g.64616171T>GCA371335942CYP7B1c.370A>C (p.Ser124Arg)
c.436A>C (p.Ser146Arg)
dbSNP gnomAD v2 gnomAD v4
8g.64616171T=CA1789664484CYP7B1c.370A= (p.Ser124=)
c.436A= (p.Ser146=)
8g.64616172A>CCA371335944CYP7B1c.369T>G (p.Phe123Leu)
c.435T>G (p.Phe145Leu)
8g.64616172A>GCA461422040CYP7B1c.369T>C (p.Phe123=)
c.435T>C (p.Phe145=)
8g.64616172A>TCA371335946CYP7B1c.369T>A (p.Phe123Leu)
c.435T>A (p.Phe145Leu)
8g.64616173A>CCA371335953CYP7B1c.368T>G (p.Phe123Cys)
c.434T>G (p.Phe145Cys)
8g.64616173A>GCA371335950CYP7B1c.368T>C (p.Phe123Ser)
c.434T>C (p.Phe145Ser)
8g.64616173A>TCA371335948CYP7B1c.368T>A (p.Phe123Tyr)
c.434T>A (p.Phe145Tyr)
8g.64616174A=CA1789664485CYP7B1c.367T= (p.Phe123=)
c.433T= (p.Phe145=)
8g.64616174A>CCA371335957CYP7B1c.367T>G (p.Phe123Val)
c.433T>G (p.Phe145Val)
dbSNP gnomAD v4
8g.64616174A>GCA371335961CYP7B1c.367T>C (p.Phe123Leu)
c.433T>C (p.Phe145Leu)
dbSNP gnomAD v2 gnomAD v4
8g.64616174A>TCA371335959CYP7B1c.367T>A (p.Phe123Ile)
c.433T>A (p.Phe145Ile)
8g.64616175T>ACA461422046CYP7B1c.366A>T (p.Ala122=)
c.432A>T (p.Ala144=)
8g.64616175T>CCA461422049CYP7B1c.366A>G (p.Ala122=)
c.432A>G (p.Ala144=)
8g.64616175T>GCA461422052CYP7B1c.366A>C (p.Ala122=)
c.432A>C (p.Ala144=)
8g.64616176G>ACA371335965CYP7B1c.365C>T (p.Ala122Val)
c.431C>T (p.Ala144Val)
dbSNP gnomAD v2 gnomAD v4
8g.64616176G>CCA371335969CYP7B1c.365C>G (p.Ala122Gly)
c.431C>G (p.Ala144Gly)
8g.64616176G=CA1789664486CYP7B1c.365C= (p.Ala122=)
c.431C= (p.Ala144=)
8g.64616176G>TCA371335967CYP7B1c.365C>A (p.Ala122Glu)
c.431C>A (p.Ala144Glu)
8g.64616177C>ACA371335973CYP7B1c.364G>T (p.Ala122Ser)
c.430G>T (p.Ala144Ser)
8g.64616177C=CA1789664487CYP7B1c.364G= (p.Ala122=)
c.430G= (p.Ala144=)
8g.64616177C>GCA371335975CYP7B1c.364G>C (p.Ala122Pro)
c.430G>C (p.Ala144Pro)
8g.64616177C>TCA178389787CYP7B1c.364G>A (p.Ala122Thr)
c.430G>A (p.Ala144Thr)
dbSNP gnomAD v4
8g.64616177dupCA178389786CYP7B1c.364dup (p.Ala122GlyfsTer3)
c.430dup (p.Ala144GlyfsTer3)
dbSNP
8g.64616178T>ACA371335979CYP7B1c.363A>T (p.Lys121Asn)
c.429A>T (p.Lys143Asn)
8g.64616178T>CCA461422067CYP7B1c.363A>G (p.Lys121=)
c.429A>G (p.Lys143=)
8g.64616178T>GCA371335981CYP7B1c.363A>C (p.Lys121Asn)
c.429A>C (p.Lys143Asn)
8g.64616179T>ACA371335987CYP7B1c.362A>T (p.Lys121Ile)
c.428A>T (p.Lys143Ile)
8g.64616179T>CCA371335984CYP7B1c.362A>G (p.Lys121Arg)
c.428A>G (p.Lys143Arg)
8g.64616179T>GCA371335986CYP7B1c.362A>C (p.Lys121Thr)
c.428A>C (p.Lys143Thr)
8g.64616180T>ACA371335990CYP7B1c.361A>T (p.Lys121Ter)
c.427A>T (p.Lys143Ter)
8g.64616180T>CCA371335992CYP7B1c.361A>G (p.Lys121Glu)
c.427A>G (p.Lys143Glu)
8g.64616180T>GCA371335994CYP7B1c.361A>C (p.Lys121Gln)
c.427A>C (p.Lys143Gln)
8g.64616181C>ACA371335997CYP7B1c.360G>T (p.Glu120Asp)
c.426G>T (p.Glu142Asp)
COSMIC
8g.64616181C=CA1789664488CYP7B1c.360G= (p.Glu120=)
c.426G= (p.Glu142=)
8g.64616181C>GCA371336000CYP7B1c.360G>C (p.Glu120Asp)
c.426G>C (p.Glu142Asp)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.64616181C>TCA461422078CYP7B1c.360G>A (p.Glu120=)
c.426G>A (p.Glu142=)
gnomAD v4
8g.64616182T>ACA371336003CYP7B1c.359A>T (p.Glu120Val)
c.425A>T (p.Glu142Val)
8g.64616182T>CCA371336008CYP7B1c.359A>G (p.Glu120Gly)
c.425A>G (p.Glu142Gly)
8g.64616182T>GCA371336006CYP7B1c.359A>C (p.Glu120Ala)
c.425A>C (p.Glu142Ala)
ClinVar dbSNP gnomAD v4
8g.64616183C>ACA371336010CYP7B1c.358G>T (p.Glu120Ter)
c.424G>T (p.Glu142Ter)
8g.64616183C>GCA371336012CYP7B1c.358G>C (p.Glu120Gln)
c.424G>C (p.Glu142Gln)
8g.64616183C>TCA371336014CYP7B1c.358G>A (p.Glu120Lys)
c.424G>A (p.Glu142Lys)
8g.64616184T>ACA371336017CYP7B1c.357A>T (p.Leu119Phe)
c.423A>T (p.Leu141Phe)
8g.64616184T>CCA461422090CYP7B1c.357A>G (p.Leu119=)
c.423A>G (p.Leu141=)
8g.64616184T>GCA371336019CYP7B1c.357A>C (p.Leu119Phe)
c.423A>C (p.Leu141Phe)
8g.64616185A>CCA371336022CYP7B1c.356T>G (p.Leu119Ter)
c.422T>G (p.Leu141Ter)
8g.64616185A>GCA371336024CYP7B1c.356T>C (p.Leu119Ser)
c.422T>C (p.Leu141Ser)
8g.64616185A>TCA371336026CYP7B1c.356T>A (p.Leu119Ter)
c.422T>A (p.Leu141Ter)
8g.64616186A=CA1789664489CYP7B1c.355T= (p.Leu119=)
c.421T= (p.Leu141=)
8g.64616186A>CCA371336028CYP7B1c.355T>G (p.Leu119Val)
c.421T>G (p.Leu141Val)
8g.64616186A>GCA4764222CYP7B1c.355T>C (p.Leu119=)
c.421T>C (p.Leu141=)
dbSNP ExAC gnomAD v2 gnomAD v4
8g.64616186A>TCA371336033CYP7B1c.355T>A (p.Leu119Ile)
c.421T>A (p.Leu141Ile)
8g.64616187T>ACA371336037CYP7B1c.354A>T (p.Leu118Phe)
c.420A>T (p.Leu140Phe)
8g.64616187T>CCA461422104CYP7B1c.354A>G (p.Leu118=)
c.420A>G (p.Leu140=)
gnomAD v4
8g.64616187T>GCA371336035CYP7B1c.354A>C (p.Leu118Phe)
c.420A>C (p.Leu140Phe)
8g.64616188A>CCA371336040CYP7B1c.353T>G (p.Leu118Ter)
c.419T>G (p.Leu140Ter)
8g.64616188A>GCA371336042CYP7B1c.353T>C (p.Leu118Ser)
c.419T>C (p.Leu140Ser)
gnomAD v4
8g.64616188A>TCA371336044CYP7B1c.353T>A (p.Leu118Ter)
c.419T>A (p.Leu140Ter)
8g.64616189A>CCA371336046CYP7B1c.352T>G (p.Leu118Val)
c.418T>G (p.Leu140Val)
8g.64616189A>GCA461422113CYP7B1c.352T>C (p.Leu118=)
c.418T>C (p.Leu140=)
COSMIC
8g.64616189A>TCA371336048CYP7B1c.352T>A (p.Leu118Ile)
c.418T>A (p.Leu140Ile)
8g.64616190T>ACA371336051CYP7B1c.351A>T (p.Lys117Asn)
c.417A>T (p.Lys139Asn)
8g.64616190T>CCA461422120CYP7B1c.351A>G (p.Lys117=)
c.417A>G (p.Lys139=)
8g.64616190T>GCA371336053CYP7B1c.351A>C (p.Lys117Asn)
c.417A>C (p.Lys139Asn)
8g.64616191T>ACA371336055CYP7B1c.350A>T (p.Lys117Ile)
c.416A>T (p.Lys139Ile)
8g.64616191T>CCA371336057CYP7B1c.350A>G (p.Lys117Arg)
c.416A>G (p.Lys139Arg)
8g.64616191T>GCA4764223CYP7B1c.350A>C (p.Lys117Thr)
c.416A>C (p.Lys139Thr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
8g.64616191T=CA1789664490CYP7B1c.350A= (p.Lys117=)
c.416A= (p.Lys139=)
8g.64616192T>ACA371336062CYP7B1c.349A>T (p.Lys117Ter)
c.415A>T (p.Lys139Ter)
8g.64616192T>CCA4764224CYP7B1c.349A>G (p.Lys117Glu)
c.415A>G (p.Lys139Glu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.64616192T>GCA371336065CYP7B1c.349A>C (p.Lys117Gln)
c.415A>C (p.Lys139Gln)
8g.64616192T=CA1789664491CYP7B1c.349A= (p.Lys117=)
c.415A= (p.Lys139=)
8g.64616193A=CA1789664492CYP7B1c.348T= (p.Asn116=)
c.414T= (p.Asn138=)
8g.64616193A>CCA371336072CYP7B1c.348T>G (p.Asn116Lys)
c.414T>G (p.Asn138Lys)
8g.64616193A>GCA4764225CYP7B1c.348T>C (p.Asn116=)
c.414T>C (p.Asn138=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8g.64616193A>TCA371336068CYP7B1c.348T>A (p.Asn116Lys)
c.414T>A (p.Asn138Lys)
8g.64616194T>ACA371336075CYP7B1c.347A>T (p.Asn116Ile)
c.413A>T (p.Asn138Ile)
8g.64616194T>CCA371336078CYP7B1c.347A>G (p.Asn116Ser)
c.413A>G (p.Asn138Ser)
8g.64616194T>GCA371336080CYP7B1c.347A>C (p.Asn116Thr)
c.413A>C (p.Asn138Thr)
8g.64616195T>ACA371336084CYP7B1c.346A>T (p.Asn116Tyr)
c.412A>T (p.Asn138Tyr)
8g.64616195T>CCA371336086CYP7B1c.346A>G (p.Asn116Asp)
c.412A>G (p.Asn138Asp)
gnomAD v4
8g.64616195T>GCA371336088CYP7B1c.346A>C (p.Asn116His)
c.412A>C (p.Asn138His)
8g.64616196A>CCA461422144CYP7B1c.345T>G (p.Ser115=)
c.411T>G (p.Ser137=)
8g.64616196A>GCA461422145CYP7B1c.345T>C (p.Ser115=)
c.411T>C (p.Ser137=)
8g.64616196A>TCA461422147CYP7B1c.345T>A (p.Ser115=)
c.411T>A (p.Ser137=)
8g.64616197G>ACA4764226CYP7B1c.344C>T (p.Ser115Phe)
c.410C>T (p.Ser137Phe)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8g.64616197G>CCA371336091CYP7B1c.344C>G (p.Ser115Cys)
c.410C>G (p.Ser137Cys)
ClinVar dbSNP gnomAD v2 gnomAD v4
8g.64616197G=CA1789664493CYP7B1c.344C= (p.Ser115=)
c.410C= (p.Ser137=)
8g.64616197G>TCA371336093CYP7B1c.344C>A (p.Ser115Tyr)
c.410C>A (p.Ser137Tyr)
8g.64616198A>CCA371336095CYP7B1c.343T>G (p.Ser115Ala)
c.409T>G (p.Ser137Ala)
8g.64616198A>GCA371336097CYP7B1c.343T>C (p.Ser115Pro)
c.409T>C (p.Ser137Pro)
8g.64616198A>TCA371336099CYP7B1c.343T>A (p.Ser115Thr)
c.409T>A (p.Ser137Thr)
8g.64616198_64616199insGCA2579176584CYP7B1c.342_343insC (p.Ser115LeufsTer2)
c.408_409insC (p.Ser137LeufsTer2)
8g.64616199A>CCA371336102CYP7B1c.342T>G (p.Phe114Leu)
c.408T>G (p.Phe136Leu)
8g.64616199A>GCA461422157CYP7B1c.342T>C (p.Phe114=)
c.408T>C (p.Phe136=)
8g.64616199A>TCA371336104CYP7B1c.342T>A (p.Phe114Leu)
c.408T>A (p.Phe136Leu)
8g.64616200A>CCA371336110CYP7B1c.341T>G (p.Phe114Cys)
c.407T>G (p.Phe136Cys)
8g.64616200A>GCA371336112CYP7B1c.341T>C (p.Phe114Ser)
c.407T>C (p.Phe136Ser)
8g.64616200A>TCA371336108CYP7B1c.341T>A (p.Phe114Tyr)
c.407T>A (p.Phe136Tyr)
8g.64616201A>CCA371336115CYP7B1c.340T>G (p.Phe114Val)
c.406T>G (p.Phe136Val)
8g.64616201A>GCA371336117CYP7B1c.340T>C (p.Phe114Leu)
c.406T>C (p.Phe136Leu)
gnomAD v4
8g.64616201A>TCA371336120CYP7B1c.340T>A (p.Phe114Ile)
c.406T>A (p.Phe136Ile)
8g.64616202T>ACA461422166CYP7B1c.339A>T (p.Val113=)
c.405A>T (p.Val135=)
8g.64616202T>CCA4764227CYP7B1c.339A>G (p.Val113=)
c.405A>G (p.Val135=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
8g.64616202T>GCA461422170CYP7B1c.339A>C (p.Val113=)
c.405A>C (p.Val135=)
8g.64616202T=CA1789664494CYP7B1c.339A= (p.Val113=)
c.405A= (p.Val135=)
8g.64616203A>CCA371336124CYP7B1c.338T>G (p.Val113Gly)
c.404T>G (p.Val135Gly)
8g.64616203A>GCA371336126CYP7B1c.338T>C (p.Val113Ala)
c.404T>C (p.Val135Ala)
8g.64616203A>TCA371336128CYP7B1c.338T>A (p.Val113Glu)
c.404T>A (p.Val135Glu)
8g.64616203dupCA2695209518CYP7B1c.338dup (p.Phe114IlefsTer3)
c.404dup (p.Phe136IlefsTer3)
8g.64616204C>ACA371336133CYP7B1c.337G>T (p.Val113Leu)
c.403G>T (p.Val135Leu)
8g.64616204C=CA1789664495CYP7B1c.337G= (p.Val113=)
c.403G= (p.Val135=)
8g.64616204C>GCA371336129CYP7B1c.337G>C (p.Val113Leu)
c.403G>C (p.Val135Leu)
8g.64616204C>TCA371336131CYP7B1c.337G>A (p.Val113Ile)
c.403G>A (p.Val135Ile)
ClinVar dbSNP gnomAD v4
8g.64616205T>ACA461422182CYP7B1c.336A>T (p.Arg112=)
c.402A>T (p.Arg134=)
8g.64616205T>CCA461422185CYP7B1c.336A>G (p.Arg112=)
c.402A>G (p.Arg134=)
8g.64616205T>GCA461422184CYP7B1c.336A>C (p.Arg112=)
c.402A>C (p.Arg134=)
gnomAD v4
8g.64616206C>ACA371336135CYP7B1c.335G>T (p.Arg112Leu)
c.401G>T (p.Arg134Leu)
gnomAD v4
8g.64616206C=CA1789664496CYP7B1c.335G= (p.Arg112=)
c.401G= (p.Arg134=)
8g.64616206C>GCA371336137CYP7B1c.335G>C (p.Arg112Pro)
c.401G>C (p.Arg134Pro)
8g.64616206C>TCA4764228CYP7B1c.335G>A (p.Arg112Gln)
c.401G>A (p.Arg134Gln)
dbSNP ExAC gnomAD v2 gnomAD v4
8g.64616207G>ACA350581CYP7B1c.334C>T (p.Arg112Ter)
c.400C>T (p.Arg134Ter)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
8g.64616207G>CCA371336140CYP7B1c.334C>G (p.Arg112Gly)
c.400C>G (p.Arg134Gly)
8g.64616207G=CA1789664497CYP7B1c.334C= (p.Arg112=)
c.400C= (p.Arg134=)
8g.64616207G>TCA461422194CYP7B1c.334C>A (p.Arg112=)
c.400C>A (p.Arg134=)
8g.64616207_64616208delCA2687454667CYP7B1c.333_334del (p.Phe111LeufsTer5)
c.399_400del (p.Phe133LeufsTer5)
ClinVar gnomAD v4
8g.64616208A=CA1789664498CYP7B1c.333T= (p.Phe111=)
c.399T= (p.Phe133=)
8g.64616208A>CCA371336143CYP7B1c.333T>G (p.Phe111Leu)
c.399T>G (p.Phe133Leu)
8g.64616208A>GCA4764229CYP7B1c.333T>C (p.Phe111=)
c.399T>C (p.Phe133=)
dbSNP ExAC
8g.64616208A>TCA371336145CYP7B1c.333T>A (p.Phe111Leu)
c.399T>A (p.Phe133Leu)
8g.64616209A>CCA371336147CYP7B1c.332T>G (p.Phe111Cys)
c.398T>G (p.Phe133Cys)
8g.64616209A>GCA371336149CYP7B1c.332T>C (p.Phe111Ser)
c.398T>C (p.Phe133Ser)
gnomAD v4
8g.64616209A>TCA371336151CYP7B1c.332T>A (p.Phe111Tyr)
c.398T>A (p.Phe133Tyr)
8g.64616210A>CCA371336153CYP7B1c.331T>G (p.Phe111Val)
c.397T>G (p.Phe133Val)
8g.64616210A>GCA371336155CYP7B1c.331T>C (p.Phe111Leu)
c.397T>C (p.Phe133Leu)
8g.64616210A>TCA371336157CYP7B1c.331T>A (p.Phe111Ile)
c.397T>A (p.Phe133Ile)
8g.64616211G>ACA4764230CYP7B1c.330C>T (p.Ser110=)
c.396C>T (p.Ser132=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8g.64616211G>CCA371336161CYP7B1c.330C>G (p.Ser110Arg)
c.396C>G (p.Ser132Arg)
8g.64616211G=CA1789664499CYP7B1c.330C= (p.Ser110=)
c.396C= (p.Ser132=)
8g.64616211G>TCA371336162CYP7B1c.330C>A (p.Ser110Arg)
c.396C>A (p.Ser132Arg)
8g.64616212delCA2687454668CYP7B1c.329del (p.Ser110ThrfsTer10)
c.395del (p.Ser132ThrfsTer10)
gnomAD v4
8g.64616212C>ACA371336165CYP7B1c.329G>T (p.Ser110Ile)
c.395G>T (p.Ser132Ile)
gnomAD v4
8g.64616212C=CA1789664500CYP7B1c.329G= (p.Ser110=)
c.395G= (p.Ser132=)
8g.64616212C>GCA371336167CYP7B1c.329G>C (p.Ser110Thr)
c.395G>C (p.Ser132Thr)
8g.64616212C>TCA178389799CYP7B1c.329G>A (p.Ser110Asn)
c.395G>A (p.Ser132Asn)
dbSNP
8g.64616213T>ACA371336171CYP7B1c.328A>T (p.Ser110Cys)
c.394A>T (p.Ser132Cys)
8g.64616213T>CCA371336175CYP7B1c.328A>G (p.Ser110Gly)
c.394A>G (p.Ser132Gly)
8g.64616213T>GCA371336172CYP7B1c.328A>C (p.Ser110Arg)
c.394A>C (p.Ser132Arg)
dbSNP
8g.64616213T=CA1789664501CYP7B1c.328A= (p.Ser110=)
c.394A= (p.Ser132=)
8g.64616215_64616218delCA2579176585CYP7B1c.325_328del (p.Leu109AlafsTer10)
c.391_394del (p.Leu131AlafsTer10)
gnomAD v4
8g.64616214T>ACA371336178CYP7B1c.327A>T (p.Leu109Phe)
c.393A>T (p.Leu131Phe)
8g.64616214T>CCA461422233CYP7B1c.327A>G (p.Leu109=)
c.393A>G (p.Leu131=)
8g.64616214T>GCA371336180CYP7B1c.327A>C (p.Leu109Phe)
c.393A>C (p.Leu131Phe)
8g.64616215A>CCA371336183CYP7B1c.326T>G (p.Leu109Ter)
c.392T>G (p.Leu131Ter)
8g.64616215A>GCA371336185CYP7B1c.326T>C (p.Leu109Ser)
c.392T>C (p.Leu131Ser)
gnomAD v4
8g.64616215A>TCA371336188CYP7B1c.326T>A (p.Leu109Ter)
c.392T>A (p.Leu131Ter)
8g.64616216A>CCA371336190CYP7B1c.325T>G (p.Leu109Val)
c.391T>G (p.Leu131Val)
8g.64616216A>GCA461422245CYP7B1c.325T>C (p.Leu109=)
c.391T>C (p.Leu131=)
8g.64616216A>TCA371336191CYP7B1c.325T>A (p.Leu109Ile)
c.391T>A (p.Leu131Ile)
8g.64616216_64616220delinsATTGTCA1789664502CYP7B1c.321_325delinsACAAT (p.Lys107=)
c.387_391delinsACAAT (p.Lys129=)
8g.64616217T>ACA371336198CYP7B1c.324A>T (p.Gln108His)
c.390A>T (p.Gln130His)
8g.64616217T>CCA461422247CYP7B1c.324A>G (p.Gln108=)
c.390A>G (p.Gln130=)
8g.64616217T>GCA371336204CYP7B1c.324A>C (p.Gln108His)
c.390A>C (p.Gln130His)
8g.64616219_64616222delCA4764231CYP7B1c.321_324del (p.Lys107AsnfsTer2)
c.387_390del (p.Lys129AsnfsTer2)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.64616218T>ACA371336206CYP7B1c.323A>T (p.Gln108Leu)
c.389A>T (p.Gln130Leu)
gnomAD v4
8g.64616218T>CCA371336208CYP7B1c.323A>G (p.Gln108Arg)
c.389A>G (p.Gln130Arg)
gnomAD v4
8g.64616218T>GCA371336210CYP7B1c.323A>C (p.Gln108Pro)
c.389A>C (p.Gln130Pro)
8g.64616219G>ACA371336213CYP7B1c.322C>T (p.Gln108Ter)
c.388C>T (p.Gln130Ter)
dbSNP
8g.64616219G>CCA371336217CYP7B1c.322C>G (p.Gln108Glu)
c.388C>G (p.Gln130Glu)
8g.64616219G=CA1789664503CYP7B1c.322C= (p.Gln108=)
c.388C= (p.Gln130=)
8g.64616219G>TCA371336215CYP7B1c.322C>A (p.Gln108Lys)
c.388C>A (p.Gln130Lys)
gnomAD v4
8g.64616220T>ACA371336221CYP7B1c.321A>T (p.Lys107Asn)
c.387A>T (p.Lys129Asn)
8g.64616220T>CCA461422270CYP7B1c.321A>G (p.Lys107=)
c.387A>G (p.Lys129=)
8g.64616220T>GCA371336222CYP7B1c.321A>C (p.Lys107Asn)
c.387A>C (p.Lys129Asn)

Number of alleles fetched