Chr Mutation (hg38) CAid Gene Transcript Linkouts
8g.64624459C>ACA371338540CYP7B1c.203G>T (p.Arg68Met)
c.269G>T (p.Arg90Met)
 dbSNP COSMIC
8g.64624459C=CA1789668016CYP7B1c.203G= (p.Arg68=)
c.269G= (p.Arg90=)
8g.64624459C>GCA371338542CYP7B1c.203G>C (p.Arg68Thr)
c.269G>C (p.Arg90Thr)
8g.64624459C>TCA371338545CYP7B1c.203G>A (p.Arg68Lys)
c.269G>A (p.Arg90Lys)
8g.64624460T>ACA371338548CYP7B1c.202A>T (p.Arg68Trp)
c.268A>T (p.Arg90Trp)
8g.64624460T>CCA371338551CYP7B1c.202A>G (p.Arg68Gly)
c.268A>G (p.Arg90Gly)
 dbSNP
8g.64624460T>GCA461120923CYP7B1c.202A>C (p.Arg68=)
c.268A>C (p.Arg90=)
8g.64624460T=CA1789668017CYP7B1c.202A= (p.Arg68=)
c.268A= (p.Arg90=)
8g.64624461T>ACA371338554CYP7B1c.201A>T (p.Leu67Phe)
c.267A>T (p.Leu89Phe)
8g.64624461T>CCA461120932CYP7B1c.201A>G (p.Leu67=)
c.267A>G (p.Leu89=)
 gnomAD v4
8g.64624461T>GCA371338557CYP7B1c.201A>C (p.Leu67Phe)
c.267A>C (p.Leu89Phe)
8g.64624462A>CCA371338564CYP7B1c.200T>G (p.Leu67Ter)
c.266T>G (p.Leu89Ter)
 gnomAD v4
8g.64624462A>GCA371338561CYP7B1c.200T>C (p.Leu67Ser)
c.266T>C (p.Leu89Ser)
8g.64624462A>TCA371338562CYP7B1c.200T>A (p.Leu67Ter)
c.266T>A (p.Leu89Ter)
8g.64624463dupCA2695209519CYP7B1c.200dup (p.Leu67PhefsTer13)
c.266dup (p.Leu89PhefsTer13)
8g.64624463A>CCA371338569CYP7B1c.199T>G (p.Leu67Val)
c.265T>G (p.Leu89Val)
8g.64624463A>GCA461120940CYP7B1c.199T>C (p.Leu67=)
c.265T>C (p.Leu89=)
 gnomAD v4
8g.64624463A>TCA371338571CYP7B1c.199T>A (p.Leu67Ile)
c.265T>A (p.Leu89Ile)
8g.64624464G>ACA461120943CYP7B1c.198C>T (p.Pro66=)
c.264C>T (p.Pro88=)
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
8g.64624464G>CCA461120944CYP7B1c.198C>G (p.Pro66=)
c.264C>G (p.Pro88=)
8g.64624464G=CA1789668018CYP7B1c.198C= (p.Pro66=)
c.264C= (p.Pro88=)
8g.64624464G>TCA461120946CYP7B1c.198C>A (p.Pro66=)
c.264C>A (p.Pro88=)
8g.64624465G>ACA371338575CYP7B1c.197C>T (p.Pro66Leu)
c.263C>T (p.Pro88Leu)
 COSMIC
8g.64624465G>CCA10582589CYP7B1c.197C>G (p.Pro66Arg)
c.263C>G (p.Pro88Arg)
 ClinVar dbSNP
8g.64624465G=CA1789668019CYP7B1c.197C= (p.Pro66=)
c.263C= (p.Pro88=)
8g.64624465G>TCA371338581CYP7B1c.197C>A (p.Pro66His)
c.263C>A (p.Pro88His)
8g.64624466G>ACA371338590CYP7B1c.196C>T (p.Pro66Ser)
c.262C>T (p.Pro88Ser)
8g.64624466G>CCA371338584CYP7B1c.196C>G (p.Pro66Ala)
c.262C>G (p.Pro88Ala)
8g.64624466G>TCA371338587CYP7B1c.196C>A (p.Pro66Thr)
c.262C>A (p.Pro88Thr)
8g.64624467G>ACA461120955CYP7B1c.195C>T (p.Asp65=)
c.261C>T (p.Asp87=)
8g.64624467G>CCA371338593CYP7B1c.195C>G (p.Asp65Glu)
c.261C>G (p.Asp87Glu)
8g.64624467G>TCA371338597CYP7B1c.195C>A (p.Asp65Glu)
c.261C>A (p.Asp87Glu)
8g.64624468T>ACA371338601CYP7B1c.194A>T (p.Asp65Val)
c.260A>T (p.Asp87Val)
8g.64624468T>CCA371338604CYP7B1c.194A>G (p.Asp65Gly)
c.260A>G (p.Asp87Gly)
 dbSNP gnomAD v2 gnomAD v4
8g.64624468T>GCA371338606CYP7B1c.194A>C (p.Asp65Ala)
c.260A>C (p.Asp87Ala)
8g.64624468T=CA1789668020CYP7B1c.194A= (p.Asp65=)
c.260A= (p.Asp87=)
8g.64624469C>ACA371338610CYP7B1c.193G>T (p.Asp65Tyr)
c.259G>T (p.Asp87Tyr)
8g.64624469C=CA1789668021CYP7B1c.193G= (p.Asp65=)
c.259G= (p.Asp87=)
8g.64624469C>GCA371338613CYP7B1c.193G>C (p.Asp65His)
c.259G>C (p.Asp87His)
8g.64624469C>TCA371338616CYP7B1c.193G>A (p.Asp65Asn)
c.259G>A (p.Asp87Asn)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.64624470T>ACA371338620CYP7B1c.192A>T (p.Lys64Asn)
c.258A>T (p.Lys86Asn)
8g.64624470T>CCA461120974CYP7B1c.192A>G (p.Lys64=)
c.258A>G (p.Lys86=)
 ClinVar
8g.64624470T>GCA371338623CYP7B1c.192A>C (p.Lys64Asn)
c.258A>C (p.Lys86Asn)
8g.64624471T>ACA371338628CYP7B1c.191A>T (p.Lys64Ile)
c.257A>T (p.Lys86Ile)
8g.64624471T>CCA371338630CYP7B1c.191A>G (p.Lys64Arg)
c.257A>G (p.Lys86Arg)
 ClinVar dbSNP gnomAD v4
8g.64624471T>GCA371338633CYP7B1c.191A>C (p.Lys64Thr)
c.257A>C (p.Lys86Thr)
8g.64624472T>ACA371338637CYP7B1c.190A>T (p.Lys64Ter)
c.256A>T (p.Lys86Ter)
8g.64624472T>CCA371338641CYP7B1c.190A>G (p.Lys64Glu)
c.256A>G (p.Lys86Glu)
8g.64624472T>GCA371338640CYP7B1c.190A>C (p.Lys64Gln)
c.256A>C (p.Lys86Gln)
8g.64624473T>ACA461120983CYP7B1c.189A>T (p.Arg63=)
c.255A>T (p.Arg85=)
8g.64624473T>CCA461120985CYP7B1c.189A>G (p.Arg63=)
c.255A>G (p.Arg85=)
 ClinVar
8g.64624473T>GCA461120986CYP7B1c.189A>C (p.Arg63=)
c.255A>C (p.Arg85=)
8g.64624474C>ACA371338646CYP7B1c.188G>T (p.Arg63Leu)
c.254G>T (p.Arg85Leu)
8g.64624474C=CA1789668022CYP7B1c.188G= (p.Arg63=)
c.254G= (p.Arg85=)
8g.64624474C>GCA371338650CYP7B1c.188G>C (p.Arg63Pro)
c.254G>C (p.Arg85Pro)
 gnomAD v4
8g.64624474C>TCA4764274CYP7B1c.188G>A (p.Arg63Gln)
c.254G>A (p.Arg85Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
8g.64624475G>ACA4764275CYP7B1c.187C>T (p.Arg63Ter)
c.253C>T (p.Arg85Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
8g.64624475G>CCA371338659CYP7B1c.187C>G (p.Arg63Gly)
c.253C>G (p.Arg85Gly)
8g.64624475G=CA1789668023CYP7B1c.187C= (p.Arg63=)
c.253C= (p.Arg85=)
8g.64624475G>TCA461120992CYP7B1c.187C>A (p.Arg63=)
c.253C>A (p.Arg85=)
8g.64624476T>ACA371338664CYP7B1c.186A>T (p.Leu62Phe)
c.252A>T (p.Leu84Phe)
8g.64624476T>CCA461120999CYP7B1c.186A>G (p.Leu62=)
c.252A>G (p.Leu84=)
8g.64624476T>GCA178391948CYP7B1c.186A>C (p.Leu62Phe)
c.252A>C (p.Leu84Phe)
 dbSNP gnomAD v4
8g.64624476T=CA1789668024CYP7B1c.186A= (p.Leu62=)
c.252A= (p.Leu84=)
8g.64624477A>CCA371338671CYP7B1c.185T>G (p.Leu62Ter)
c.251T>G (p.Leu84Ter)
8g.64624477A>GCA371338675CYP7B1c.185T>C (p.Leu62Ser)
c.251T>C (p.Leu84Ser)
8g.64624477A>TCA371338677CYP7B1c.185T>A (p.Leu62Ter)
c.251T>A (p.Leu84Ter)
8g.64624478A>CCA371338681CYP7B1c.184T>G (p.Leu62Val)
c.250T>G (p.Leu84Val)
 gnomAD v4
8g.64624478A>GCA461121003CYP7B1c.184T>C (p.Leu62=)
c.250T>C (p.Leu84=)
8g.64624478A>TCA371338684CYP7B1c.184T>A (p.Leu62Ile)
c.250T>A (p.Leu84Ile)
8g.64624479G>ACA4764276CYP7B1c.183C>T (p.Asn61=)
c.249C>T (p.Asn83=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8g.64624479G>CCA371338690CYP7B1c.183C>G (p.Asn61Lys)
c.249C>G (p.Asn83Lys)
8g.64624479G=CA1789668025CYP7B1c.183C= (p.Asn61=)
c.249C= (p.Asn83=)
8g.64624479G>TCA371338688CYP7B1c.183C>A (p.Asn61Lys)
c.249C>A (p.Asn83Lys)
8g.64624480T>ACA371338695CYP7B1c.182A>T (p.Asn61Ile)
c.248A>T (p.Asn83Ile)
8g.64624480T>CCA371338698CYP7B1c.182A>G (p.Asn61Ser)
c.248A>G (p.Asn83Ser)
 gnomAD v4
8g.64624480T>GCA371338699CYP7B1c.182A>C (p.Asn61Thr)
c.248A>C (p.Asn83Thr)
8g.64624481T>ACA371338702CYP7B1c.181A>T (p.Asn61Tyr)
c.247A>T (p.Asn83Tyr)
8g.64624481T>CCA371338703CYP7B1c.181A>G (p.Asn61Asp)
c.247A>G (p.Asn83Asp)
8g.64624481T>GCA371338707CYP7B1c.181A>C (p.Asn61His)
c.247A>C (p.Asn83His)
8g.64624482C>ACA461121015CYP7B1c.180G>T (p.Leu60=)
c.246G>T (p.Leu82=)
 COSMIC
8g.64624482C>GCA461121019CYP7B1c.180G>C (p.Leu60=)
c.246G>C (p.Leu82=)
8g.64624482C>TCA461121017CYP7B1c.180G>A (p.Leu60=)
c.246G>A (p.Leu82=)
8g.64624483A>CCA371338712CYP7B1c.179T>G (p.Leu60Arg)
c.245T>G (p.Leu82Arg)
8g.64624483A>GCA371338716CYP7B1c.179T>C (p.Leu60Pro)
c.245T>C (p.Leu82Pro)
8g.64624483A>TCA371338721CYP7B1c.179T>A (p.Leu60Gln)
c.245T>A (p.Leu82Gln)
 gnomAD v4
8g.64624484G>ACA461121022CYP7B1c.178C>T (p.Leu60=)
c.244C>T (p.Leu82=)
8g.64624484G>CCA371338724CYP7B1c.178C>G (p.Leu60Val)
c.244C>G (p.Leu82Val)
8g.64624484G=CA1789668026CYP7B1c.178C= (p.Leu60=)
c.244C= (p.Leu82=)
8g.64624484G>TCA371338728CYP7B1c.178C>A (p.Leu60Met)
c.244C>A (p.Leu82Met)
 dbSNP gnomAD v2 gnomAD v4
8g.64624485delCA2739268837CYP7B1c.178del (p.Leu60Ter)
c.244del (p.Leu82Ter)
 ClinVar
8g.64624485G>ACA461121025CYP7B1c.177C>T (p.Val59=)
c.243C>T (p.Val81=)
 ClinVar
8g.64624485G>CCA461121026CYP7B1c.177C>G (p.Val59=)
c.243C>G (p.Val81=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
8g.64624485G=CA1789668027CYP7B1c.177C= (p.Val59=)
c.243C= (p.Val81=)
8g.64624485G>TCA4764277CYP7B1c.177C>A (p.Val59=)
c.243C>A (p.Val81=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.64624486A=CA1789668028CYP7B1c.176T= (p.Val59=)
c.242T= (p.Val81=)
8g.64624486A>CCA371338734CYP7B1c.176T>G (p.Val59Gly)
c.242T>G (p.Val81Gly)
8g.64624486A>GCA4764278CYP7B1c.176T>C (p.Val59Ala)
c.242T>C (p.Val81Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.64624486A>TCA371338738CYP7B1c.176T>A (p.Val59Asp)
c.242T>A (p.Val81Asp)
8g.64624487C>ACA371338744CYP7B1c.175G>T (p.Val59Phe)
c.241G>T (p.Val81Phe)
8g.64624487C>GCA371338752CYP7B1c.175G>C (p.Val59Leu)
c.241G>C (p.Val81Leu)
8g.64624487C>TCA371338747CYP7B1c.175G>A (p.Val59Ile)
c.241G>A (p.Val81Ile)
8g.64624488C>ACA461121036CYP7B1c.174G>T (p.Val58=)
c.240G>T (p.Val80=)
8g.64624488C=CA1789668029CYP7B1c.174G= (p.Val58=)
c.240G= (p.Val80=)
8g.64624488C>GCA461121038CYP7B1c.174G>C (p.Val58=)
c.240G>C (p.Val80=)
8g.64624488C>TCA461121042CYP7B1c.174G>A (p.Val58=)
c.240G>A (p.Val80=)
 COSMIC
8g.64624489A>CCA371338756CYP7B1c.173T>G (p.Val58Gly)
c.239T>G (p.Val80Gly)
8g.64624489A>GCA371338760CYP7B1c.173T>C (p.Val58Ala)
c.239T>C (p.Val80Ala)
8g.64624489A>TCA371338764CYP7B1c.173T>A (p.Val58Glu)
c.239T>A (p.Val80Glu)
8g.64624489dupCA582409116CYP7B1c.173dup (p.Val59GlyfsTer21)
c.239dup (p.Val81GlyfsTer21)
 ClinVar dbSNP gnomAD v2 gnomAD v4
8g.64624490_64624495dupCA582409115CYP7B1c.168_173dup (p.Val58_Val59insGlyVal)
c.234_239dup (p.Val80_Val81insGlyVal)
 dbSNP gnomAD v2 gnomAD v4
8g.64624490C>ACA371338768CYP7B1c.172G>T (p.Val58Leu)
c.238G>T (p.Val80Leu)
8g.64624490C=CA1789668030CYP7B1c.172G= (p.Val58=)
c.238G= (p.Val80=)
8g.64624490C>GCA371338771CYP7B1c.172G>C (p.Val58Leu)
c.238G>C (p.Val80Leu)
8g.64624490C>TCA371338773CYP7B1c.172G>A (p.Val58Met)
c.238G>A (p.Val80Met)
 dbSNP
8g.64624491T>ACA4764279CYP7B1c.171A>T (p.Gly57=)
c.237A>T (p.Gly79=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.64624491T>CCA461121052CYP7B1c.171A>G (p.Gly57=)
c.237A>G (p.Gly79=)
8g.64624491T>GCA461121054CYP7B1c.171A>C (p.Gly57=)
c.237A>C (p.Gly79=)
8g.64624491T=CA1789668031CYP7B1c.171A= (p.Gly57=)
c.237A= (p.Gly79=)
8g.64624491_64624492insTTCA2687454855CYP7B1c.171_172insAA (p.Val58LysfsTer4)
c.237_238insAA (p.Val80LysfsTer4)
 gnomAD v4
8g.64624492C>ACA371338780CYP7B1c.170G>T (p.Gly57Val)
c.236G>T (p.Gly79Val)
8g.64624492C=CA1789668032CYP7B1c.170G= (p.Gly57=)
c.236G= (p.Gly79=)
8g.64624492C>GCA371338782CYP7B1c.170G>C (p.Gly57Ala)
c.236G>C (p.Gly79Ala)
 ClinVar dbSNP gnomAD v4
8g.64624492C>TCA371338785CYP7B1c.170G>A (p.Gly57Glu)
c.236G>A (p.Gly79Glu)
 dbSNP
8g.64624493C>ACA371338793CYP7B1c.169G>T (p.Gly57Ter)
c.235G>T (p.Gly79Ter)
 ClinVar
8g.64624493C=CA1789668033CYP7B1c.169G= (p.Gly57=)
c.235G= (p.Gly79=)
8g.64624493C>GCA371338790CYP7B1c.169G>C (p.Gly57Arg)
c.235G>C (p.Gly79Arg)
8g.64624493C>TCA210941CYP7B1c.169G>A (p.Gly57Arg)
c.235G>A (p.Gly79Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.64624494A>CCA461121063CYP7B1c.168T>G (p.Leu56=)
c.234T>G (p.Leu78=)
8g.64624494A>GCA461121064CYP7B1c.168T>C (p.Leu56=)
c.234T>C (p.Leu78=)
 gnomAD v4
8g.64624494A>TCA461121066CYP7B1c.168T>A (p.Leu56=)
c.234T>A (p.Leu78=)
8g.64624495A=CA1789668034CYP7B1c.167T= (p.Leu56=)
c.233T= (p.Leu78=)
8g.64624495A>CCA371338798CYP7B1c.167T>G (p.Leu56Arg)
c.233T>G (p.Leu78Arg)
8g.64624495A>GCA371338801CYP7B1c.167T>C (p.Leu56Pro)
c.233T>C (p.Leu78Pro)
 ClinVar dbSNP
8g.64624495A>TCA371338805CYP7B1c.167T>A (p.Leu56His)
c.233T>A (p.Leu78His)
8g.64624496G>ACA371338807CYP7B1c.166C>T (p.Leu56Phe)
c.232C>T (p.Leu78Phe)
8g.64624496G>CCA371338811CYP7B1c.166C>G (p.Leu56Val)
c.232C>G (p.Leu78Val)
8g.64624496G>TCA371338814CYP7B1c.166C>A (p.Leu56Ile)
c.232C>A (p.Leu78Ile)
8g.64624497A>CCA371338818CYP7B1c.165T>G (p.Tyr55Ter)
c.231T>G (p.Tyr77Ter)
8g.64624497A>GCA461121077CYP7B1c.165T>C (p.Tyr55=)
c.231T>C (p.Tyr77=)
 gnomAD v4
8g.64624497A>TCA371338821CYP7B1c.165T>A (p.Tyr55Ter)
c.231T>A (p.Tyr77Ter)
8g.64624498T>ACA371338825CYP7B1c.164A>T (p.Tyr55Phe)
c.230A>T (p.Tyr77Phe)
 gnomAD v4
8g.64624498T>CCA371338827CYP7B1c.164A>G (p.Tyr55Cys)
c.230A>G (p.Tyr77Cys)
8g.64624498T>GCA371338831CYP7B1c.164A>C (p.Tyr55Ser)
c.230A>C (p.Tyr77Ser)
8g.64624499A>CCA371338839CYP7B1c.163T>G (p.Tyr55Asp)
c.229T>G (p.Tyr77Asp)
8g.64624499A>GCA371338841CYP7B1c.163T>C (p.Tyr55His)
c.229T>C (p.Tyr77His)
 COSMIC
8g.64624499A>TCA371338835CYP7B1c.163T>A (p.Tyr55Asn)
c.229T>A (p.Tyr77Asn)
8g.64624500A>CCA461121084CYP7B1c.162T>G (p.Pro54=)
c.228T>G (p.Pro76=)
8g.64624500A>GCA461121086CYP7B1c.162T>C (p.Pro54=)
c.228T>C (p.Pro76=)
8g.64624500A>TCA461121087CYP7B1c.162T>A (p.Pro54=)
c.228T>A (p.Pro76=)
8g.64624501G>ACA371338845CYP7B1c.161C>T (p.Pro54Leu)
c.227C>T (p.Pro76Leu)
 dbSNP COSMIC
8g.64624501G>CCA371338848CYP7B1c.161C>G (p.Pro54Arg)
c.227C>G (p.Pro76Arg)
8g.64624501G>TCA371338851CYP7B1c.161C>A (p.Pro54His)
c.227C>A (p.Pro76His)
 COSMIC
8g.64624502G>ACA178391955CYP7B1c.160C>T (p.Pro54Ser)
c.226C>T (p.Pro76Ser)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
8g.64624502G>CCA371338858CYP7B1c.160C>G (p.Pro54Ala)
c.226C>G (p.Pro76Ala)
8g.64624502G=CA1789668035CYP7B1c.160C= (p.Pro54=)
c.226C= (p.Pro76=)
8g.64624502G>TCA371338861CYP7B1c.160C>A (p.Pro54Thr)
c.226C>A (p.Pro76Thr)
8g.64624503A>CCA461121097CYP7B1c.159T>G (p.Leu53=)
c.225T>G (p.Leu75=)
8g.64624503A>GCA461121099CYP7B1c.159T>C (p.Leu53=)
c.225T>C (p.Leu75=)
8g.64624503A>TCA461121101CYP7B1c.159T>A (p.Leu53=)
c.225T>A (p.Leu75=)
8g.64624504A>CCA371338865CYP7B1c.158T>G (p.Leu53Arg)
c.224T>G (p.Leu75Arg)
8g.64624504A>GCA371338869CYP7B1c.158T>C (p.Leu53Pro)
c.224T>C (p.Leu75Pro)
8g.64624504A>TCA371338872CYP7B1c.158T>A (p.Leu53His)
c.224T>A (p.Leu75His)
8g.64624505G>ACA371338882CYP7B1c.157C>T (p.Leu53Phe)
c.223C>T (p.Leu75Phe)
8g.64624505G>CCA371338885CYP7B1c.157C>G (p.Leu53Val)
c.223C>G (p.Leu75Val)
8g.64624505G>TCA371338887CYP7B1c.157C>A (p.Leu53Ile)
c.223C>A (p.Leu75Ile)
8g.64624506C>ACA371338896CYP7B1c.156G>T (p.Trp52Cys)
c.222G>T (p.Trp74Cys)
8g.64624506C>GCA371338891CYP7B1c.156G>C (p.Trp52Cys)
c.222G>C (p.Trp74Cys)
8g.64624506C>TCA371338894CYP7B1c.156G>A (p.Trp52Ter)
c.222G>A (p.Trp74Ter)
8g.64624507C>ACA371338900CYP7B1c.155G>T (p.Trp52Leu)
c.221G>T (p.Trp74Leu)
8g.64624507C>GCA371338904CYP7B1c.155G>C (p.Trp52Ser)
c.221G>C (p.Trp74Ser)
8g.64624507C>TCA371338906CYP7B1c.155G>A (p.Trp52Ter)
c.221G>A (p.Trp74Ter)
8g.64624508A>CCA371338910CYP7B1c.154T>G (p.Trp52Gly)
c.220T>G (p.Trp74Gly)
8g.64624508A>GCA371338911CYP7B1c.154T>C (p.Trp52Arg)
c.220T>C (p.Trp74Arg)
8g.64624508A>TCA371338913CYP7B1c.154T>A (p.Trp52Arg)
c.220T>A (p.Trp74Arg)
8g.64624509A>CCA461121122CYP7B1c.153T>G (p.Gly51=)
c.219T>G (p.Gly73=)
8g.64624509A>GCA461121124CYP7B1c.153T>C (p.Gly51=)
c.219T>C (p.Gly73=)
8g.64624509A>TCA461121125CYP7B1c.153T>A (p.Gly51=)
c.219T>A (p.Gly73=)
8g.64624510C>ACA371338919CYP7B1c.152G>T (p.Gly51Val)
c.218G>T (p.Gly73Val)
 COSMIC
8g.64624510C=CA1789668036CYP7B1c.152G= (p.Gly51=)
c.218G= (p.Gly73=)
8g.64624510C>GCA371338922CYP7B1c.152G>C (p.Gly51Ala)
c.218G>C (p.Gly73Ala)
8g.64624510C>TCA371338925CYP7B1c.152G>A (p.Gly51Asp)
c.218G>A (p.Gly73Asp)
 dbSNP gnomAD v4
8g.64624511C>ACA371338930CYP7B1c.151G>T (p.Gly51Cys)
c.217G>T (p.Gly73Cys)
 COSMIC
8g.64624511C=CA1789668038CYP7B1c.151G= (p.Gly51=)
c.217G= (p.Gly73=)
8g.64624511C>GCA178391957CYP7B1c.151G>C (p.Gly51Arg)
c.217G>C (p.Gly73Arg)
 ClinVar dbSNP gnomAD v3 gnomAD v4
8g.64624511C>TCA4764280CYP7B1c.151G>A (p.Gly51Ser)
c.217G>A (p.Gly73Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
8g.64624511_64624512delinsCTCA1789668037CYP7B1c.150_151delinsAG (p.Lys50=)
c.216_217delinsAG (p.Lys72=)
8g.64624512T>ACA371338943CYP7B1c.150A>T (p.Lys50Asn)
c.216A>T (p.Lys72Asn)
8g.64624512T>CCA461121139CYP7B1c.150A>G (p.Lys50=)
c.216A>G (p.Lys72=)
8g.64624512T>GCA371338939CYP7B1c.150A>C (p.Lys50Asn)
c.216A>C (p.Lys72Asn)
8g.64624515delCA4764281CYP7B1c.150del (p.Gly51ValfsTer10)
c.216del (p.Gly73ValfsTer10)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8g.64624513T>ACA371338947CYP7B1c.149A>T (p.Lys50Ile)
c.215A>T (p.Lys72Ile)
8g.64624513T>CCA371338950CYP7B1c.149A>G (p.Lys50Arg)
c.215A>G (p.Lys72Arg)
8g.64624513T>GCA371338948CYP7B1c.149A>C (p.Lys50Thr)
c.215A>C (p.Lys72Thr)
8g.64624514T>ACA371338951CYP7B1c.148A>T (p.Lys50Ter)
c.214A>T (p.Lys72Ter)
8g.64624514T>CCA371338954CYP7B1c.148A>G (p.Lys50Glu)
c.214A>G (p.Lys72Glu)
 gnomAD v4
8g.64624514T>GCA178391960CYP7B1c.148A>C (p.Lys50Gln)
c.214A>C (p.Lys72Gln)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.64624514T=CA1789668039CYP7B1c.148A= (p.Lys50=)
c.214A= (p.Lys72=)
8g.64624515T>ACA461121149CYP7B1c.147A>T (p.Ile49=)
c.213A>T (p.Ile71=)
8g.64624515T>CCA4764282CYP7B1c.147A>G (p.Ile49Met)
c.213A>G (p.Ile71Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8g.64624515T>GCA461121151CYP7B1c.147A>C (p.Ile49=)
c.213A>C (p.Ile71=)
8g.64624515T=CA1789668040CYP7B1c.147A= (p.Ile49=)
c.213A= (p.Ile71=)
8g.64624516A>CCA371338956CYP7B1c.146T>G (p.Ile49Arg)
c.212T>G (p.Ile71Arg)
8g.64624516A>GCA371338958CYP7B1c.146T>C (p.Ile49Thr)
c.212T>C (p.Ile71Thr)
8g.64624516A>TCA371338960CYP7B1c.146T>A (p.Ile49Lys)
c.212T>A (p.Ile71Lys)
8g.64624517T>ACA371338961CYP7B1c.145A>T (p.Ile49Leu)
c.211A>T (p.Ile71Leu)
8g.64624517T>CCA371338963CYP7B1c.145A>G (p.Ile49Val)
c.211A>G (p.Ile71Val)
8g.64624517T>GCA371338965CYP7B1c.145A>C (p.Ile49Leu)
c.211A>C (p.Ile71Leu)
8g.64624518C>ACA371338967CYP7B1c.144G>T (p.Leu48Phe)
c.210G>T (p.Leu70Phe)
8g.64624518C>GCA371338968CYP7B1c.144G>C (p.Leu48Phe)
c.210G>C (p.Leu70Phe)
8g.64624518C>TCA461121162CYP7B1c.144G>A (p.Leu48=)
c.210G>A (p.Leu70=)
8g.64624519A=CA1789668041CYP7B1c.143T= (p.Leu48=)
c.209T= (p.Leu70=)
8g.64624519A>CCA371338970CYP7B1c.143T>G (p.Leu48Trp)
c.209T>G (p.Leu70Trp)
8g.64624519A>GCA371338972CYP7B1c.143T>C (p.Leu48Ser)
c.209T>C (p.Leu70Ser)
8g.64624519A>TCA4764283CYP7B1c.143T>A (p.Leu48Ter)
c.209T>A (p.Leu70Ter)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.64624520A=CA1789668042CYP7B1c.142T= (p.Leu48=)
c.208T= (p.Leu70=)
8g.64624520A>CCA371338975CYP7B1c.142T>G (p.Leu48Val)
c.208T>G (p.Leu70Val)
8g.64624520A>GCA4764284CYP7B1c.142T>C (p.Leu48=)
c.208T>C (p.Leu70=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.64624520A>TCA371338976CYP7B1c.142T>A (p.Leu48Met)
c.208T>A (p.Leu70Met)
8g.64624521T>ACA461121166CYP7B1c.141A>T (p.Pro47=)
c.207A>T (p.Pro69=)
 gnomAD v4
8g.64624521T>CCA461121168CYP7B1c.141A>G (p.Pro47=)
c.207A>G (p.Pro69=)
 gnomAD v4
8g.64624521T>GCA461121170CYP7B1c.141A>C (p.Pro47=)
c.207A>C (p.Pro69=)
8g.64624522G>ACA371338980CYP7B1c.140C>T (p.Pro47Leu)
c.206C>T (p.Pro69Leu)
 COSMIC
8g.64624522G>CCA371338981CYP7B1c.140C>G (p.Pro47Arg)
c.206C>G (p.Pro69Arg)
8g.64624522G>TCA371338983CYP7B1c.140C>A (p.Pro47Gln)
c.206C>A (p.Pro69Gln)
8g.64624523G>ACA371338986CYP7B1c.139C>T (p.Pro47Ser)
c.205C>T (p.Pro69Ser)
8g.64624523G>CCA371338987CYP7B1c.139C>G (p.Pro47Ala)
c.205C>G (p.Pro69Ala)
8g.64624523G>TCA371338989CYP7B1c.139C>A (p.Pro47Thr)
c.205C>A (p.Pro69Thr)
8g.64624524A>CCA461121176CYP7B1c.138T>G (p.Pro46=)
c.204T>G (p.Pro68=)
8g.64624524A>GCA461121177CYP7B1c.138T>C (p.Pro46=)
c.204T>C (p.Pro68=)
8g.64624524A>TCA461121178CYP7B1c.138T>A (p.Pro46=)
c.204T>A (p.Pro68=)
8g.64624525G>ACA371338991CYP7B1c.137C>T (p.Pro46Leu)
c.203C>T (p.Pro68Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
8g.64624525G>CCA371338992CYP7B1c.137C>G (p.Pro46Arg)
c.203C>G (p.Pro68Arg)
 gnomAD v4
8g.64624525G=CA1789668043CYP7B1c.137C= (p.Pro46=)
c.203C= (p.Pro68=)
8g.64624525G>TCA371338993CYP7B1c.137C>A (p.Pro46His)
c.203C>A (p.Pro68His)
8g.64624526G>ACA371338995CYP7B1c.136C>T (p.Pro46Ser)
c.202C>T (p.Pro68Ser)
8g.64624526G>CCA371338997CYP7B1c.136C>G (p.Pro46Ala)
c.202C>G (p.Pro68Ala)
8g.64624526G>TCA371338994CYP7B1c.136C>A (p.Pro46Thr)
c.202C>A (p.Pro68Thr)
 gnomAD v4
8g.64624527C>ACA371338999CYP7B1c.135G>T (p.Glu45Asp)
c.201G>T (p.Glu67Asp)
8g.64624527C=CA1789668044CYP7B1c.135G= (p.Glu45=)
c.201G= (p.Glu67=)
8g.64624527C>GCA371339001CYP7B1c.135G>C (p.Glu45Asp)
c.201G>C (p.Glu67Asp)
8g.64624527C>TCA4764285CYP7B1c.135G>A (p.Glu45=)
c.201G>A (p.Glu67=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.64624528T>ACA371339005CYP7B1c.134A>T (p.Glu45Val)
c.200A>T (p.Glu67Val)
8g.64624528T>CCA371339006CYP7B1c.134A>G (p.Glu45Gly)
c.200A>G (p.Glu67Gly)
8g.64624528T>GCA371339007CYP7B1c.134A>C (p.Glu45Ala)
c.200A>C (p.Glu67Ala)
8g.64624529C>ACA371339009CYP7B1c.133G>T (p.Glu45Ter)
c.199G>T (p.Glu67Ter)
8g.64624529C>GCA371339011CYP7B1c.133G>C (p.Glu45Gln)
c.199G>C (p.Glu67Gln)
8g.64624529C>TCA371339013CYP7B1c.133G>A (p.Glu45Lys)
c.199G>A (p.Glu67Lys)
8g.64624530A>CCA461121179CYP7B1c.132T>G (p.Gly44=)
c.198T>G (p.Gly66=)
8g.64624530A>GCA461121180CYP7B1c.132T>C (p.Gly44=)
c.198T>C (p.Gly66=)
8g.64624530A>TCA461121181CYP7B1c.132T>A (p.Gly44=)
c.198T>A (p.Gly66=)
8g.64624531C>ACA371339016CYP7B1c.131G>T (p.Gly44Val)
c.197G>T (p.Gly66Val)
 gnomAD v4
8g.64624531C=CA1789668045CYP7B1c.131G= (p.Gly44=)
c.197G= (p.Gly66=)
8g.64624531C>GCA371339018CYP7B1c.131G>C (p.Gly44Ala)
c.197G>C (p.Gly66Ala)
8g.64624531C>TCA4764286CYP7B1c.131G>A (p.Gly44Asp)
c.197G>A (p.Gly66Asp)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.64624532C>ACA371339023CYP7B1c.130G>T (p.Gly44Cys)
c.196G>T (p.Gly66Cys)
 dbSNP gnomAD v2 gnomAD v4
8g.64624532C=CA1789668046CYP7B1c.130G= (p.Gly44=)
c.196G= (p.Gly66=)
8g.64624532C>GCA371339020CYP7B1c.130G>C (p.Gly44Arg)
c.196G>C (p.Gly66Arg)
 gnomAD v4
8g.64624532C>TCA178391968CYP7B1c.130G>A (p.Gly44Ser)
c.196G>A (p.Gly66Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
8g.64624533G>ACA461121184CYP7B1c.129C>T (p.Pro43=)
c.195C>T (p.Pro65=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
8g.64624533G>CCA461121183CYP7B1c.129C>G (p.Pro43=)
c.195C>G (p.Pro65=)
8g.64624533G=CA1789668047CYP7B1c.129C= (p.Pro43=)
c.195C= (p.Pro65=)
8g.64624533G>TCA461121182CYP7B1c.129C>A (p.Pro43=)
c.195C>A (p.Pro65=)
8g.64624534G>ACA4764287CYP7B1c.128C>T (p.Pro43Leu)
c.194C>T (p.Pro65Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.64624534G>CCA371339026CYP7B1c.128C>G (p.Pro43Arg)
c.194C>G (p.Pro65Arg)
8g.64624534G=CA1789668048CYP7B1c.128C= (p.Pro43=)
c.194C= (p.Pro65=)
8g.64624534G>TCA371339027CYP7B1c.128C>A (p.Pro43His)
c.194C>A (p.Pro65His)
 gnomAD v4
8g.64624535G>ACA371339030CYP7B1c.127C>T (p.Pro43Ser)
c.193C>T (p.Pro65Ser)
8g.64624535G>CCA371339032CYP7B1c.127C>G (p.Pro43Ala)
c.193C>G (p.Pro65Ala)
8g.64624535G>TCA371339033CYP7B1c.127C>A (p.Pro43Thr)
c.193C>A (p.Pro65Thr)
 gnomAD v4
8g.64624536T>ACA371339035CYP7B1c.126A>T (p.Arg42Ser)
c.192A>T (p.Arg64Ser)
8g.64624536T>CCA461121185CYP7B1c.126A>G (p.Arg42=)
c.192A>G (p.Arg64=)
8g.64624536T>GCA371339037CYP7B1c.126A>C (p.Arg42Ser)
c.192A>C (p.Arg64Ser)
 dbSNP
8g.64624537C>ACA371339039CYP7B1c.125G>T (p.Arg42Ile)
c.191G>T (p.Arg64Ile)
8g.64624537C=CA1789668049CYP7B1c.125G= (p.Arg42=)
c.191G= (p.Arg64=)
8g.64624537C>GCA371339041CYP7B1c.125G>C (p.Arg42Thr)
c.191G>C (p.Arg64Thr)
8g.64624537C>TCA4764288CYP7B1c.125G>A (p.Arg42Lys)
c.191G>A (p.Arg64Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.64624538T>ACA371339044CYP7B1c.124A>T (p.Arg42Ter)
c.190A>T (p.Arg64Ter)
8g.64624538T>CCA371339046CYP7B1c.124A>G (p.Arg42Gly)
c.190A>G (p.Arg64Gly)
8g.64624538T>GCA461121186CYP7B1c.124A>C (p.Arg42=)
c.190A>C (p.Arg64=)
8g.64624539C>ACA371339050CYP7B1c.123G>T (p.Arg41Ser)
c.189G>T (p.Arg63Ser)
 COSMIC
8g.64624539C>GCA371339048CYP7B1c.123G>C (p.Arg41Ser)
c.189G>C (p.Arg63Ser)
8g.64624539C>TCA461121187CYP7B1c.123G>A (p.Arg41=)
c.189G>A (p.Arg63=)
 COSMIC
8g.64624540C>ACA371339052CYP7B1c.123-1G>T (n.123-1G>T)
c.189-1G>T (n.189-1G>T)
8g.64624540C>GCA371339057CYP7B1c.123-1G>C (n.123-1G>C)
c.189-1G>C (n.189-1G>C)
8g.64624540C>TCA371339055CYP7B1c.123-1G>A (n.123-1G>A)
c.189-1G>A (n.189-1G>A)
8g.64624541delCA2780623685CYP7B1c.123-2del (n.123-2del)
c.189-2del (n.189-2del)
8g.64624541T>ACA371339060CYP7B1c.123-2A>T (n.123-2A>T)
c.189-2A>T (n.189-2A>T)
 gnomAD v4
8g.64624541T>CCA371339061CYP7B1c.123-2A>G (n.123-2A>G)
c.189-2A>G (n.189-2A>G)
8g.64624541T>GCA371339063CYP7B1c.123-2A>C (n.123-2A>C)
c.189-2A>C (n.189-2A>C)
8g.64624542A>GCA2573143287CYP7B1c.123-3T>C (n.123-3T>C)
c.189-3T>C (n.189-3T>C)
 ClinVar dbSNP
8g.64624542dupCA913141821CYP7B1c.123-3dup (n.123-3dup)
c.189-3dup (n.189-3dup)
 gnomAD v4
8g.64624543C>ACA582409117CYP7B1c.123-4G>T (n.123-4G>T)
c.189-4G>T (n.189-4G>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.64624543C=CA1789668050CYP7B1c.123-4G= (n.123-4G=)
c.189-4G= (n.189-4G=)
8g.64624543C>TCA4764289CYP7B1c.123-4G>A (n.123-4G>A)
c.189-4G>A (n.189-4G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.64624544A=CA1789668051CYP7B1c.123-5T= (n.123-5T=)
c.189-5T= (n.189-5T=)
8g.64624544A>CCA1114697506CYP7B1c.123-5T>G (n.123-5T>G)
c.189-5T>G (n.189-5T>G)
 dbSNP gnomAD v3 gnomAD v4
8g.64624545dupCA2687454856CYP7B1c.123-5dup (n.123-5dup)
c.189-5dup (n.189-5dup)
 gnomAD v4
8g.64624545A=CA1789668052CYP7B1c.123-6T= (n.123-6T=)
c.189-6T= (n.189-6T=)
8g.64624545A>TCA178391974CYP7B1c.123-6T>A (n.123-6T>A)
c.189-6T>A (n.189-6T>A)
 dbSNP gnomAD v4
8g.64624546G>ACA582409118CYP7B1c.123-7C>T (n.123-7C>T)
c.189-7C>T (n.189-7C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
8g.64624546G>CCA582409119CYP7B1c.123-7C>G (n.123-7C>G)
c.189-7C>G (n.189-7C>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.64624546G=CA1789668053CYP7B1c.123-7C= (n.123-7C=)
c.189-7C= (n.189-7C=)
8g.64624546G>TCA2687454858CYP7B1c.123-7C>A (n.123-7C>A)
c.189-7C>A (n.189-7C>A)
 gnomAD v4
8g.64624546_64624547delCA2780623686CYP7B1c.123-8_123-7del (n.123-8_123-7del)
c.189-8_189-7del (n.189-8_189-7del)
8g.64624547delCA2687454857CYP7B1c.123-7del (n.123-7del)
c.189-7del (n.189-7del)
 gnomAD v4
8g.64624547G>ACA582409120CYP7B1c.123-8C>T (n.123-8C>T)
c.189-8C>T (n.189-8C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.64624547G=CA1789668055CYP7B1c.123-8C= (n.123-8C=)
c.189-8C= (n.189-8C=)
8g.64624547_64624549delinsGAACA1789668054CYP7B1c.123-10_123-8delinsTTC (n.123-10_123-8delinsTTC)
c.189-10_189-8delinsTTC (n.189-10_189-8delinsTTC)
8g.64624548A=CA1789668056CYP7B1c.123-9T= (n.123-9T=)
c.189-9T= (n.189-9T=)
8g.64624548A>GCA178391982CYP7B1c.123-9T>C (n.123-9T>C)
c.189-9T>C (n.189-9T>C)
 ClinVar dbSNP gnomAD v4
8g.64624548A>TCA2687454861CYP7B1c.123-9T>A (n.123-9T>A)
c.189-9T>A (n.189-9T>A)
 gnomAD v4
8g.64624558dupCA4764290CYP7B1c.123-9dup (n.123-9dup)
c.189-9dup (n.189-9dup)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.64624557_64624558dupCA4764292CYP7B1c.123-10_123-9dup (n.123-10_123-9dup)
c.189-10_189-9dup (n.189-10_189-9dup)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8g.64624556_64624558dupCA2687454859CYP7B1c.123-11_123-9dup (n.123-11_123-9dup)
c.189-11_189-9dup (n.189-11_189-9dup)
 gnomAD v4
8g.64624558delCA201634CYP7B1c.123-9del (n.123-9del)
c.189-9del (n.189-9del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
8g.64624557_64624558delCA4764291CYP7B1c.123-10_123-9del (n.123-10_123-9del)
c.189-10_189-9del (n.189-10_189-9del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.64624556_64624558delCA582409121CYP7B1c.123-11_123-9del (n.123-11_123-9del)
c.189-11_189-9del (n.189-11_189-9del)
 gnomAD v2 gnomAD v4
8g.64624555_64624558delCA2687454860CYP7B1c.123-12_123-9del (n.123-12_123-9del)
c.189-12_189-9del (n.189-12_189-9del)
 gnomAD v4
8g.64624549A>GCA2687454862CYP7B1c.123-10T>C (n.123-10T>C)
c.189-10T>C (n.189-10T>C)
 gnomAD v4
8g.64624552A=CA1789668057CYP7B1c.123-13T= (n.123-13T=)
c.189-13T= (n.189-13T=)
8g.64624552A>CCA2687454863CYP7B1c.123-13T>G (n.123-13T>G)
c.189-13T>G (n.189-13T>G)
 gnomAD v4
8g.64624552A>GCA4764293CYP7B1c.123-13T>C (n.123-13T>C)
c.189-13T>C (n.189-13T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.64624553A>TCA2687454864CYP7B1c.123-14T>A (n.123-14T>A)
c.189-14T>A (n.189-14T>A)
 gnomAD v4
8g.64624555A>TCA2580078891CYP7B1c.123-16T>A (n.123-16T>A)
c.189-16T>A (n.189-16T>A)
 ClinVar
8g.64624555_64624556insGACA2780623687CYP7B1c.123-16_123-15insCT (n.123-16_123-15insCT)
c.189-16_189-15insCT (n.189-16_189-15insCT)
8g.64624556A=CA1789668058CYP7B1c.123-17T= (n.123-17T=)
c.189-17T= (n.189-17T=)
8g.64624556A>GCA582409122CYP7B1c.123-17T>C (n.123-17T>C)
c.189-17T>C (n.189-17T>C)
 ClinVar dbSNP gnomAD v2 gnomAD v4
8g.64624556_64624557insGCA2579176612CYP7B1c.123-18_123-17insC (n.123-18_123-17insC)
c.189-18_189-17insC (n.189-18_189-17insC)
 gnomAD v4
8g.64624557A>CCA2687454865CYP7B1c.123-18T>G (n.123-18T>G)
c.189-18T>G (n.189-18T>G)
 gnomAD v4
8g.64624557A>GCA2687454866CYP7B1c.123-18T>C (n.123-18T>C)
c.189-18T>C (n.189-18T>C)
 gnomAD v4
8g.64624558A>GCA2687454867CYP7B1c.123-19T>C (n.123-19T>C)
c.189-19T>C (n.189-19T>C)
 gnomAD v4
8g.64624559delCA2579176613CYP7B1c.123-20del (n.123-20del)
c.189-20del (n.189-20del)
8g.64624559G>ACA2687454868CYP7B1c.123-20C>T (n.123-20C>T)
c.189-20C>T (n.189-20C>T)
 gnomAD v4
8g.64624559G>CCA4764294CYP7B1c.123-20C>G (n.123-20C>G)
c.189-20C>G (n.189-20C>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.64624559G=CA1789668059CYP7B1c.123-20C= (n.123-20C=)
c.189-20C= (n.189-20C=)
8g.64624559G>TCA2687454869CYP7B1c.123-20C>A (n.123-20C>A)
c.189-20C>A (n.189-20C>A)
 gnomAD v4

Number of alleles fetched