Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
8 | g.64624465G>A | CA371338575 | CYP7B1 | c.197C>T (p.Pro66Leu) c.263C>T (p.Pro88Leu) | COSMIC |
8 | g.64624465G>C | CA10582589 | CYP7B1 | c.197C>G (p.Pro66Arg) c.263C>G (p.Pro88Arg) | ClinVar dbSNP |
8 | g.64624465G= | CA1789668019 | CYP7B1 | c.197C= (p.Pro66=) c.263C= (p.Pro88=) | |
8 | g.64624465G>T | CA371338581 | CYP7B1 | c.197C>A (p.Pro66His) c.263C>A (p.Pro88His) | |
8 | g.64624466G>A | CA371338590 | CYP7B1 | c.196C>T (p.Pro66Ser) c.262C>T (p.Pro88Ser) | |
8 | g.64624466G>C | CA371338584 | CYP7B1 | c.196C>G (p.Pro66Ala) c.262C>G (p.Pro88Ala) | |
8 | g.64624466G>T | CA371338587 | CYP7B1 | c.196C>A (p.Pro66Thr) c.262C>A (p.Pro88Thr) | |
8 | g.64624467G>A | CA461120955 | CYP7B1 | c.195C>T (p.Asp65=) c.261C>T (p.Asp87=) | |
8 | g.64624467G>C | CA371338593 | CYP7B1 | c.195C>G (p.Asp65Glu) c.261C>G (p.Asp87Glu) | |
8 | g.64624467G>T | CA371338597 | CYP7B1 | c.195C>A (p.Asp65Glu) c.261C>A (p.Asp87Glu) | |
8 | g.64624468T>A | CA371338601 | CYP7B1 | c.194A>T (p.Asp65Val) c.260A>T (p.Asp87Val) | |
8 | g.64624468T>C | CA371338604 | CYP7B1 | c.194A>G (p.Asp65Gly) c.260A>G (p.Asp87Gly) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.64624468T>G | CA371338606 | CYP7B1 | c.194A>C (p.Asp65Ala) c.260A>C (p.Asp87Ala) | |
8 | g.64624468T= | CA1789668020 | CYP7B1 | c.194A= (p.Asp65=) c.260A= (p.Asp87=) | |
8 | g.64624469C>A | CA371338610 | CYP7B1 | c.193G>T (p.Asp65Tyr) c.259G>T (p.Asp87Tyr) | |
8 | g.64624469C= | CA1789668021 | CYP7B1 | c.193G= (p.Asp65=) c.259G= (p.Asp87=) | |
8 | g.64624469C>G | CA371338613 | CYP7B1 | c.193G>C (p.Asp65His) c.259G>C (p.Asp87His) | |
8 | g.64624469C>T | CA371338616 | CYP7B1 | c.193G>A (p.Asp65Asn) c.259G>A (p.Asp87Asn) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.64624470T>A | CA371338620 | CYP7B1 | c.192A>T (p.Lys64Asn) c.258A>T (p.Lys86Asn) | |
8 | g.64624470T>C | CA461120974 | CYP7B1 | c.192A>G (p.Lys64=) c.258A>G (p.Lys86=) | ClinVar |
8 | g.64624470T>G | CA371338623 | CYP7B1 | c.192A>C (p.Lys64Asn) c.258A>C (p.Lys86Asn) | |
8 | g.64624471T>A | CA371338628 | CYP7B1 | c.191A>T (p.Lys64Ile) c.257A>T (p.Lys86Ile) | |
8 | g.64624471T>C | CA371338630 | CYP7B1 | c.191A>G (p.Lys64Arg) c.257A>G (p.Lys86Arg) | ClinVar dbSNP gnomAD v4 |
8 | g.64624471T>G | CA371338633 | CYP7B1 | c.191A>C (p.Lys64Thr) c.257A>C (p.Lys86Thr) | |
8 | g.64624472T>A | CA371338637 | CYP7B1 | c.190A>T (p.Lys64Ter) c.256A>T (p.Lys86Ter) | |
8 | g.64624472T>C | CA371338641 | CYP7B1 | c.190A>G (p.Lys64Glu) c.256A>G (p.Lys86Glu) | |
8 | g.64624472T>G | CA371338640 | CYP7B1 | c.190A>C (p.Lys64Gln) c.256A>C (p.Lys86Gln) | |
8 | g.64624473T>A | CA461120983 | CYP7B1 | c.189A>T (p.Arg63=) c.255A>T (p.Arg85=) | |
8 | g.64624473T>C | CA461120985 | CYP7B1 | c.189A>G (p.Arg63=) c.255A>G (p.Arg85=) | ClinVar |
8 | g.64624473T>G | CA461120986 | CYP7B1 | c.189A>C (p.Arg63=) c.255A>C (p.Arg85=) | |
8 | g.64624474C>A | CA371338646 | CYP7B1 | c.188G>T (p.Arg63Leu) c.254G>T (p.Arg85Leu) | |
8 | g.64624474C= | CA1789668022 | CYP7B1 | c.188G= (p.Arg63=) c.254G= (p.Arg85=) | |
8 | g.64624474C>G | CA371338650 | CYP7B1 | c.188G>C (p.Arg63Pro) c.254G>C (p.Arg85Pro) | gnomAD v4 |
8 | g.64624474C>T | CA4764274 | CYP7B1 | c.188G>A (p.Arg63Gln) c.254G>A (p.Arg85Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
8 | g.64624475G>A | CA4764275 | CYP7B1 | c.187C>T (p.Arg63Ter) c.253C>T (p.Arg85Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
8 | g.64624475G>C | CA371338659 | CYP7B1 | c.187C>G (p.Arg63Gly) c.253C>G (p.Arg85Gly) | |
8 | g.64624475G= | CA1789668023 | CYP7B1 | c.187C= (p.Arg63=) c.253C= (p.Arg85=) | |
8 | g.64624475G>T | CA461120992 | CYP7B1 | c.187C>A (p.Arg63=) c.253C>A (p.Arg85=) | |
8 | g.64624476T>A | CA371338664 | CYP7B1 | c.186A>T (p.Leu62Phe) c.252A>T (p.Leu84Phe) | |
8 | g.64624476T>C | CA461120999 | CYP7B1 | c.186A>G (p.Leu62=) c.252A>G (p.Leu84=) | |
8 | g.64624476T>G | CA178391948 | CYP7B1 | c.186A>C (p.Leu62Phe) c.252A>C (p.Leu84Phe) | dbSNP gnomAD v4 |
8 | g.64624476T= | CA1789668024 | CYP7B1 | c.186A= (p.Leu62=) c.252A= (p.Leu84=) | |
8 | g.64624477A>C | CA371338671 | CYP7B1 | c.185T>G (p.Leu62Ter) c.251T>G (p.Leu84Ter) | |
8 | g.64624477A>G | CA371338675 | CYP7B1 | c.185T>C (p.Leu62Ser) c.251T>C (p.Leu84Ser) | |
8 | g.64624477A>T | CA371338677 | CYP7B1 | c.185T>A (p.Leu62Ter) c.251T>A (p.Leu84Ter) | |
8 | g.64624478A>C | CA371338681 | CYP7B1 | c.184T>G (p.Leu62Val) c.250T>G (p.Leu84Val) | gnomAD v4 |
8 | g.64624478A>G | CA461121003 | CYP7B1 | c.184T>C (p.Leu62=) c.250T>C (p.Leu84=) | |
8 | g.64624478A>T | CA371338684 | CYP7B1 | c.184T>A (p.Leu62Ile) c.250T>A (p.Leu84Ile) | |
8 | g.64624479G>A | CA4764276 | CYP7B1 | c.183C>T (p.Asn61=) c.249C>T (p.Asn83=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.64624479G>C | CA371338690 | CYP7B1 | c.183C>G (p.Asn61Lys) c.249C>G (p.Asn83Lys) | |
8 | g.64624479G= | CA1789668025 | CYP7B1 | c.183C= (p.Asn61=) c.249C= (p.Asn83=) | |
8 | g.64624479G>T | CA371338688 | CYP7B1 | c.183C>A (p.Asn61Lys) c.249C>A (p.Asn83Lys) | |
8 | g.64624480T>A | CA371338695 | CYP7B1 | c.182A>T (p.Asn61Ile) c.248A>T (p.Asn83Ile) | |
8 | g.64624480T>C | CA371338698 | CYP7B1 | c.182A>G (p.Asn61Ser) c.248A>G (p.Asn83Ser) | gnomAD v4 |
8 | g.64624480T>G | CA371338699 | CYP7B1 | c.182A>C (p.Asn61Thr) c.248A>C (p.Asn83Thr) | |
8 | g.64624481T>A | CA371338702 | CYP7B1 | c.181A>T (p.Asn61Tyr) c.247A>T (p.Asn83Tyr) | |
8 | g.64624481T>C | CA371338703 | CYP7B1 | c.181A>G (p.Asn61Asp) c.247A>G (p.Asn83Asp) | |
8 | g.64624481T>G | CA371338707 | CYP7B1 | c.181A>C (p.Asn61His) c.247A>C (p.Asn83His) | |
8 | g.64624482C>A | CA461121015 | CYP7B1 | c.180G>T (p.Leu60=) c.246G>T (p.Leu82=) | COSMIC |
8 | g.64624482C>G | CA461121019 | CYP7B1 | c.180G>C (p.Leu60=) c.246G>C (p.Leu82=) | |
8 | g.64624482C>T | CA461121017 | CYP7B1 | c.180G>A (p.Leu60=) c.246G>A (p.Leu82=) | |
8 | g.64624483A>C | CA371338712 | CYP7B1 | c.179T>G (p.Leu60Arg) c.245T>G (p.Leu82Arg) | |
8 | g.64624483A>G | CA371338716 | CYP7B1 | c.179T>C (p.Leu60Pro) c.245T>C (p.Leu82Pro) | |
8 | g.64624483A>T | CA371338721 | CYP7B1 | c.179T>A (p.Leu60Gln) c.245T>A (p.Leu82Gln) | gnomAD v4 |
8 | g.64624484G>A | CA461121022 | CYP7B1 | c.178C>T (p.Leu60=) c.244C>T (p.Leu82=) | |
8 | g.64624484G>C | CA371338724 | CYP7B1 | c.178C>G (p.Leu60Val) c.244C>G (p.Leu82Val) | |
8 | g.64624484G= | CA1789668026 | CYP7B1 | c.178C= (p.Leu60=) c.244C= (p.Leu82=) | |
8 | g.64624484G>T | CA371338728 | CYP7B1 | c.178C>A (p.Leu60Met) c.244C>A (p.Leu82Met) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.64624485del | CA2739268837 | CYP7B1 | c.178del (p.Leu60Ter) c.244del (p.Leu82Ter) | ClinVar |
8 | g.64624485G>A | CA461121025 | CYP7B1 | c.177C>T (p.Val59=) c.243C>T (p.Val81=) | ClinVar |
8 | g.64624485G>C | CA461121026 | CYP7B1 | c.177C>G (p.Val59=) c.243C>G (p.Val81=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
8 | g.64624485G= | CA1789668027 | CYP7B1 | c.177C= (p.Val59=) c.243C= (p.Val81=) | |
8 | g.64624485G>T | CA4764277 | CYP7B1 | c.177C>A (p.Val59=) c.243C>A (p.Val81=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.64624486A= | CA1789668028 | CYP7B1 | c.176T= (p.Val59=) c.242T= (p.Val81=) | |
8 | g.64624486A>C | CA371338734 | CYP7B1 | c.176T>G (p.Val59Gly) c.242T>G (p.Val81Gly) | |
8 | g.64624486A>G | CA4764278 | CYP7B1 | c.176T>C (p.Val59Ala) c.242T>C (p.Val81Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.64624486A>T | CA371338738 | CYP7B1 | c.176T>A (p.Val59Asp) c.242T>A (p.Val81Asp) | |
8 | g.64624487C>A | CA371338744 | CYP7B1 | c.175G>T (p.Val59Phe) c.241G>T (p.Val81Phe) | |
8 | g.64624487C>G | CA371338752 | CYP7B1 | c.175G>C (p.Val59Leu) c.241G>C (p.Val81Leu) | |
8 | g.64624487C>T | CA371338747 | CYP7B1 | c.175G>A (p.Val59Ile) c.241G>A (p.Val81Ile) | |
8 | g.64624488C>A | CA461121036 | CYP7B1 | c.174G>T (p.Val58=) c.240G>T (p.Val80=) | |
8 | g.64624488C= | CA1789668029 | CYP7B1 | c.174G= (p.Val58=) c.240G= (p.Val80=) | |
8 | g.64624488C>G | CA461121038 | CYP7B1 | c.174G>C (p.Val58=) c.240G>C (p.Val80=) | |
8 | g.64624488C>T | CA461121042 | CYP7B1 | c.174G>A (p.Val58=) c.240G>A (p.Val80=) | COSMIC |
8 | g.64624489A>C | CA371338756 | CYP7B1 | c.173T>G (p.Val58Gly) c.239T>G (p.Val80Gly) | |
8 | g.64624489A>G | CA371338760 | CYP7B1 | c.173T>C (p.Val58Ala) c.239T>C (p.Val80Ala) | |
8 | g.64624489A>T | CA371338764 | CYP7B1 | c.173T>A (p.Val58Glu) c.239T>A (p.Val80Glu) | |
8 | g.64624489dup | CA582409116 | CYP7B1 | c.173dup (p.Val59GlyfsTer21) c.239dup (p.Val81GlyfsTer21) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
8 | g.64624490_64624495dup | CA582409115 | CYP7B1 | c.168_173dup (p.Val58_Val59insGlyVal) c.234_239dup (p.Val80_Val81insGlyVal) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.64624490C>A | CA371338768 | CYP7B1 | c.172G>T (p.Val58Leu) c.238G>T (p.Val80Leu) | |
8 | g.64624490C= | CA1789668030 | CYP7B1 | c.172G= (p.Val58=) c.238G= (p.Val80=) | |
8 | g.64624490C>G | CA371338771 | CYP7B1 | c.172G>C (p.Val58Leu) c.238G>C (p.Val80Leu) | |
8 | g.64624490C>T | CA371338773 | CYP7B1 | c.172G>A (p.Val58Met) c.238G>A (p.Val80Met) | dbSNP |
8 | g.64624491T>A | CA4764279 | CYP7B1 | c.171A>T (p.Gly57=) c.237A>T (p.Gly79=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.64624491T>C | CA461121052 | CYP7B1 | c.171A>G (p.Gly57=) c.237A>G (p.Gly79=) | |
8 | g.64624491T>G | CA461121054 | CYP7B1 | c.171A>C (p.Gly57=) c.237A>C (p.Gly79=) | |
8 | g.64624491T= | CA1789668031 | CYP7B1 | c.171A= (p.Gly57=) c.237A= (p.Gly79=) | |
8 | g.64624491_64624492insTT | CA2687454855 | CYP7B1 | c.171_172insAA (p.Val58LysfsTer4) c.237_238insAA (p.Val80LysfsTer4) | gnomAD v4 |
8 | g.64624492C>A | CA371338780 | CYP7B1 | c.170G>T (p.Gly57Val) c.236G>T (p.Gly79Val) | |
8 | g.64624492C= | CA1789668032 | CYP7B1 | c.170G= (p.Gly57=) c.236G= (p.Gly79=) | |
8 | g.64624492C>G | CA371338782 | CYP7B1 | c.170G>C (p.Gly57Ala) c.236G>C (p.Gly79Ala) | ClinVar dbSNP gnomAD v4 |
8 | g.64624492C>T | CA371338785 | CYP7B1 | c.170G>A (p.Gly57Glu) c.236G>A (p.Gly79Glu) | dbSNP |
8 | g.64624493C>A | CA371338793 | CYP7B1 | c.169G>T (p.Gly57Ter) c.235G>T (p.Gly79Ter) | ClinVar |
8 | g.64624493C= | CA1789668033 | CYP7B1 | c.169G= (p.Gly57=) c.235G= (p.Gly79=) | |
8 | g.64624493C>G | CA371338790 | CYP7B1 | c.169G>C (p.Gly57Arg) c.235G>C (p.Gly79Arg) | |
8 | g.64624493C>T | CA210941 | CYP7B1 | c.169G>A (p.Gly57Arg) c.235G>A (p.Gly79Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.64624494A>C | CA461121063 | CYP7B1 | c.168T>G (p.Leu56=) c.234T>G (p.Leu78=) | |
8 | g.64624494A>G | CA461121064 | CYP7B1 | c.168T>C (p.Leu56=) c.234T>C (p.Leu78=) | gnomAD v4 |
8 | g.64624494A>T | CA461121066 | CYP7B1 | c.168T>A (p.Leu56=) c.234T>A (p.Leu78=) | |
8 | g.64624495A= | CA1789668034 | CYP7B1 | c.167T= (p.Leu56=) c.233T= (p.Leu78=) | |
8 | g.64624495A>C | CA371338798 | CYP7B1 | c.167T>G (p.Leu56Arg) c.233T>G (p.Leu78Arg) | |
8 | g.64624495A>G | CA371338801 | CYP7B1 | c.167T>C (p.Leu56Pro) c.233T>C (p.Leu78Pro) | ClinVar dbSNP |
8 | g.64624495A>T | CA371338805 | CYP7B1 | c.167T>A (p.Leu56His) c.233T>A (p.Leu78His) | |
8 | g.64624496G>A | CA371338807 | CYP7B1 | c.166C>T (p.Leu56Phe) c.232C>T (p.Leu78Phe) | |
8 | g.64624496G>C | CA371338811 | CYP7B1 | c.166C>G (p.Leu56Val) c.232C>G (p.Leu78Val) | |
8 | g.64624496G>T | CA371338814 | CYP7B1 | c.166C>A (p.Leu56Ile) c.232C>A (p.Leu78Ile) | |
8 | g.64624497A>C | CA371338818 | CYP7B1 | c.165T>G (p.Tyr55Ter) c.231T>G (p.Tyr77Ter) | |
8 | g.64624497A>G | CA461121077 | CYP7B1 | c.165T>C (p.Tyr55=) c.231T>C (p.Tyr77=) | gnomAD v4 |
8 | g.64624497A>T | CA371338821 | CYP7B1 | c.165T>A (p.Tyr55Ter) c.231T>A (p.Tyr77Ter) | |
8 | g.64624498T>A | CA371338825 | CYP7B1 | c.164A>T (p.Tyr55Phe) c.230A>T (p.Tyr77Phe) | gnomAD v4 |
8 | g.64624498T>C | CA371338827 | CYP7B1 | c.164A>G (p.Tyr55Cys) c.230A>G (p.Tyr77Cys) | |
8 | g.64624498T>G | CA371338831 | CYP7B1 | c.164A>C (p.Tyr55Ser) c.230A>C (p.Tyr77Ser) | |
8 | g.64624499A>C | CA371338839 | CYP7B1 | c.163T>G (p.Tyr55Asp) c.229T>G (p.Tyr77Asp) | |
8 | g.64624499A>G | CA371338841 | CYP7B1 | c.163T>C (p.Tyr55His) c.229T>C (p.Tyr77His) | COSMIC |
8 | g.64624499A>T | CA371338835 | CYP7B1 | c.163T>A (p.Tyr55Asn) c.229T>A (p.Tyr77Asn) | |
8 | g.64624500A>C | CA461121084 | CYP7B1 | c.162T>G (p.Pro54=) c.228T>G (p.Pro76=) | |
8 | g.64624500A>G | CA461121086 | CYP7B1 | c.162T>C (p.Pro54=) c.228T>C (p.Pro76=) | |
8 | g.64624500A>T | CA461121087 | CYP7B1 | c.162T>A (p.Pro54=) c.228T>A (p.Pro76=) | |
8 | g.64624501G>A | CA371338845 | CYP7B1 | c.161C>T (p.Pro54Leu) c.227C>T (p.Pro76Leu) | dbSNP COSMIC |
8 | g.64624501G>C | CA371338848 | CYP7B1 | c.161C>G (p.Pro54Arg) c.227C>G (p.Pro76Arg) | |
8 | g.64624501G>T | CA371338851 | CYP7B1 | c.161C>A (p.Pro54His) c.227C>A (p.Pro76His) | COSMIC |
8 | g.64624502G>A | CA178391955 | CYP7B1 | c.160C>T (p.Pro54Ser) c.226C>T (p.Pro76Ser) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
8 | g.64624502G>C | CA371338858 | CYP7B1 | c.160C>G (p.Pro54Ala) c.226C>G (p.Pro76Ala) | |
8 | g.64624502G= | CA1789668035 | CYP7B1 | c.160C= (p.Pro54=) c.226C= (p.Pro76=) | |
8 | g.64624502G>T | CA371338861 | CYP7B1 | c.160C>A (p.Pro54Thr) c.226C>A (p.Pro76Thr) | |
8 | g.64624503A>C | CA461121097 | CYP7B1 | c.159T>G (p.Leu53=) c.225T>G (p.Leu75=) | |
8 | g.64624503A>G | CA461121099 | CYP7B1 | c.159T>C (p.Leu53=) c.225T>C (p.Leu75=) | |
8 | g.64624503A>T | CA461121101 | CYP7B1 | c.159T>A (p.Leu53=) c.225T>A (p.Leu75=) | |
8 | g.64624504A>C | CA371338865 | CYP7B1 | c.158T>G (p.Leu53Arg) c.224T>G (p.Leu75Arg) | |
8 | g.64624504A>G | CA371338869 | CYP7B1 | c.158T>C (p.Leu53Pro) c.224T>C (p.Leu75Pro) | |
8 | g.64624504A>T | CA371338872 | CYP7B1 | c.158T>A (p.Leu53His) c.224T>A (p.Leu75His) | |
8 | g.64624505G>A | CA371338882 | CYP7B1 | c.157C>T (p.Leu53Phe) c.223C>T (p.Leu75Phe) | |
8 | g.64624505G>C | CA371338885 | CYP7B1 | c.157C>G (p.Leu53Val) c.223C>G (p.Leu75Val) | |
8 | g.64624505G>T | CA371338887 | CYP7B1 | c.157C>A (p.Leu53Ile) c.223C>A (p.Leu75Ile) | |
8 | g.64624506C>A | CA371338896 | CYP7B1 | c.156G>T (p.Trp52Cys) c.222G>T (p.Trp74Cys) | |
8 | g.64624506C>G | CA371338891 | CYP7B1 | c.156G>C (p.Trp52Cys) c.222G>C (p.Trp74Cys) | |
8 | g.64624506C>T | CA371338894 | CYP7B1 | c.156G>A (p.Trp52Ter) c.222G>A (p.Trp74Ter) | |
8 | g.64624507C>A | CA371338900 | CYP7B1 | c.155G>T (p.Trp52Leu) c.221G>T (p.Trp74Leu) | |
8 | g.64624507C>G | CA371338904 | CYP7B1 | c.155G>C (p.Trp52Ser) c.221G>C (p.Trp74Ser) | |
8 | g.64624507C>T | CA371338906 | CYP7B1 | c.155G>A (p.Trp52Ter) c.221G>A (p.Trp74Ter) | |
8 | g.64624508A>C | CA371338910 | CYP7B1 | c.154T>G (p.Trp52Gly) c.220T>G (p.Trp74Gly) | |
8 | g.64624508A>G | CA371338911 | CYP7B1 | c.154T>C (p.Trp52Arg) c.220T>C (p.Trp74Arg) | |
8 | g.64624508A>T | CA371338913 | CYP7B1 | c.154T>A (p.Trp52Arg) c.220T>A (p.Trp74Arg) | |
8 | g.64624509A>C | CA461121122 | CYP7B1 | c.153T>G (p.Gly51=) c.219T>G (p.Gly73=) | |
8 | g.64624509A>G | CA461121124 | CYP7B1 | c.153T>C (p.Gly51=) c.219T>C (p.Gly73=) | |
8 | g.64624509A>T | CA461121125 | CYP7B1 | c.153T>A (p.Gly51=) c.219T>A (p.Gly73=) | |
8 | g.64624510C>A | CA371338919 | CYP7B1 | c.152G>T (p.Gly51Val) c.218G>T (p.Gly73Val) | COSMIC |
8 | g.64624510C= | CA1789668036 | CYP7B1 | c.152G= (p.Gly51=) c.218G= (p.Gly73=) | |
8 | g.64624510C>G | CA371338922 | CYP7B1 | c.152G>C (p.Gly51Ala) c.218G>C (p.Gly73Ala) | |
8 | g.64624510C>T | CA371338925 | CYP7B1 | c.152G>A (p.Gly51Asp) c.218G>A (p.Gly73Asp) | dbSNP gnomAD v4 |
8 | g.64624511C>A | CA371338930 | CYP7B1 | c.151G>T (p.Gly51Cys) c.217G>T (p.Gly73Cys) | COSMIC |
8 | g.64624511C= | CA1789668038 | CYP7B1 | c.151G= (p.Gly51=) c.217G= (p.Gly73=) | |
8 | g.64624511C>G | CA178391957 | CYP7B1 | c.151G>C (p.Gly51Arg) c.217G>C (p.Gly73Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
8 | g.64624511C>T | CA4764280 | CYP7B1 | c.151G>A (p.Gly51Ser) c.217G>A (p.Gly73Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
8 | g.64624511_64624512delinsCT | CA1789668037 | CYP7B1 | c.150_151delinsAG (p.Lys50=) c.216_217delinsAG (p.Lys72=) | |
8 | g.64624512T>A | CA371338943 | CYP7B1 | c.150A>T (p.Lys50Asn) c.216A>T (p.Lys72Asn) | |
8 | g.64624512T>C | CA461121139 | CYP7B1 | c.150A>G (p.Lys50=) c.216A>G (p.Lys72=) | |
8 | g.64624512T>G | CA371338939 | CYP7B1 | c.150A>C (p.Lys50Asn) c.216A>C (p.Lys72Asn) | |
8 | g.64624515del | CA4764281 | CYP7B1 | c.150del (p.Gly51ValfsTer10) c.216del (p.Gly73ValfsTer10) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.64624513T>A | CA371338947 | CYP7B1 | c.149A>T (p.Lys50Ile) c.215A>T (p.Lys72Ile) | |
8 | g.64624513T>C | CA371338950 | CYP7B1 | c.149A>G (p.Lys50Arg) c.215A>G (p.Lys72Arg) | |
8 | g.64624513T>G | CA371338948 | CYP7B1 | c.149A>C (p.Lys50Thr) c.215A>C (p.Lys72Thr) | |
8 | g.64624514T>A | CA371338951 | CYP7B1 | c.148A>T (p.Lys50Ter) c.214A>T (p.Lys72Ter) | |
8 | g.64624514T>C | CA371338954 | CYP7B1 | c.148A>G (p.Lys50Glu) c.214A>G (p.Lys72Glu) | gnomAD v4 |
8 | g.64624514T>G | CA178391960 | CYP7B1 | c.148A>C (p.Lys50Gln) c.214A>C (p.Lys72Gln) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.64624514T= | CA1789668039 | CYP7B1 | c.148A= (p.Lys50=) c.214A= (p.Lys72=) | |
8 | g.64624515T>A | CA461121149 | CYP7B1 | c.147A>T (p.Ile49=) c.213A>T (p.Ile71=) | |
8 | g.64624515T>C | CA4764282 | CYP7B1 | c.147A>G (p.Ile49Met) c.213A>G (p.Ile71Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.64624515T>G | CA461121151 | CYP7B1 | c.147A>C (p.Ile49=) c.213A>C (p.Ile71=) | |
8 | g.64624515T= | CA1789668040 | CYP7B1 | c.147A= (p.Ile49=) c.213A= (p.Ile71=) | |
8 | g.64624516A>C | CA371338956 | CYP7B1 | c.146T>G (p.Ile49Arg) c.212T>G (p.Ile71Arg) | |
8 | g.64624516A>G | CA371338958 | CYP7B1 | c.146T>C (p.Ile49Thr) c.212T>C (p.Ile71Thr) | |
8 | g.64624516A>T | CA371338960 | CYP7B1 | c.146T>A (p.Ile49Lys) c.212T>A (p.Ile71Lys) | |
8 | g.64624517T>A | CA371338961 | CYP7B1 | c.145A>T (p.Ile49Leu) c.211A>T (p.Ile71Leu) | |
8 | g.64624517T>C | CA371338963 | CYP7B1 | c.145A>G (p.Ile49Val) c.211A>G (p.Ile71Val) | |
8 | g.64624517T>G | CA371338965 | CYP7B1 | c.145A>C (p.Ile49Leu) c.211A>C (p.Ile71Leu) | |
8 | g.64624518C>A | CA371338967 | CYP7B1 | c.144G>T (p.Leu48Phe) c.210G>T (p.Leu70Phe) | |
8 | g.64624518C>G | CA371338968 | CYP7B1 | c.144G>C (p.Leu48Phe) c.210G>C (p.Leu70Phe) | |
8 | g.64624518C>T | CA461121162 | CYP7B1 | c.144G>A (p.Leu48=) c.210G>A (p.Leu70=) | |
8 | g.64624519A= | CA1789668041 | CYP7B1 | c.143T= (p.Leu48=) c.209T= (p.Leu70=) | |
8 | g.64624519A>C | CA371338970 | CYP7B1 | c.143T>G (p.Leu48Trp) c.209T>G (p.Leu70Trp) | |
8 | g.64624519A>G | CA371338972 | CYP7B1 | c.143T>C (p.Leu48Ser) c.209T>C (p.Leu70Ser) | |
8 | g.64624519A>T | CA4764283 | CYP7B1 | c.143T>A (p.Leu48Ter) c.209T>A (p.Leu70Ter) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.64624520A= | CA1789668042 | CYP7B1 | c.142T= (p.Leu48=) c.208T= (p.Leu70=) | |
8 | g.64624520A>C | CA371338975 | CYP7B1 | c.142T>G (p.Leu48Val) c.208T>G (p.Leu70Val) | |
8 | g.64624520A>G | CA4764284 | CYP7B1 | c.142T>C (p.Leu48=) c.208T>C (p.Leu70=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.64624520A>T | CA371338976 | CYP7B1 | c.142T>A (p.Leu48Met) c.208T>A (p.Leu70Met) | |
8 | g.64624521T>A | CA461121166 | CYP7B1 | c.141A>T (p.Pro47=) c.207A>T (p.Pro69=) | gnomAD v4 |
8 | g.64624521T>C | CA461121168 | CYP7B1 | c.141A>G (p.Pro47=) c.207A>G (p.Pro69=) | gnomAD v4 |
8 | g.64624521T>G | CA461121170 | CYP7B1 | c.141A>C (p.Pro47=) c.207A>C (p.Pro69=) | |
8 | g.64624522G>A | CA371338980 | CYP7B1 | c.140C>T (p.Pro47Leu) c.206C>T (p.Pro69Leu) | COSMIC |
8 | g.64624522G>C | CA371338981 | CYP7B1 | c.140C>G (p.Pro47Arg) c.206C>G (p.Pro69Arg) | |
8 | g.64624522G>T | CA371338983 | CYP7B1 | c.140C>A (p.Pro47Gln) c.206C>A (p.Pro69Gln) | |
8 | g.64624523G>A | CA371338986 | CYP7B1 | c.139C>T (p.Pro47Ser) c.205C>T (p.Pro69Ser) | |
8 | g.64624523G>C | CA371338987 | CYP7B1 | c.139C>G (p.Pro47Ala) c.205C>G (p.Pro69Ala) | |
8 | g.64624523G>T | CA371338989 | CYP7B1 | c.139C>A (p.Pro47Thr) c.205C>A (p.Pro69Thr) | |
8 | g.64624524A>C | CA461121176 | CYP7B1 | c.138T>G (p.Pro46=) c.204T>G (p.Pro68=) | |
8 | g.64624524A>G | CA461121177 | CYP7B1 | c.138T>C (p.Pro46=) c.204T>C (p.Pro68=) | |
8 | g.64624524A>T | CA461121178 | CYP7B1 | c.138T>A (p.Pro46=) c.204T>A (p.Pro68=) | |
8 | g.64624525G>A | CA371338991 | CYP7B1 | c.137C>T (p.Pro46Leu) c.203C>T (p.Pro68Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
8 | g.64624525G>C | CA371338992 | CYP7B1 | c.137C>G (p.Pro46Arg) c.203C>G (p.Pro68Arg) | gnomAD v4 |
8 | g.64624525G= | CA1789668043 | CYP7B1 | c.137C= (p.Pro46=) c.203C= (p.Pro68=) | |
8 | g.64624525G>T | CA371338993 | CYP7B1 | c.137C>A (p.Pro46His) c.203C>A (p.Pro68His) | |
8 | g.64624526G>A | CA371338995 | CYP7B1 | c.136C>T (p.Pro46Ser) c.202C>T (p.Pro68Ser) | |
8 | g.64624526G>C | CA371338997 | CYP7B1 | c.136C>G (p.Pro46Ala) c.202C>G (p.Pro68Ala) | |
8 | g.64624526G>T | CA371338994 | CYP7B1 | c.136C>A (p.Pro46Thr) c.202C>A (p.Pro68Thr) | gnomAD v4 |
8 | g.64624527C>A | CA371338999 | CYP7B1 | c.135G>T (p.Glu45Asp) c.201G>T (p.Glu67Asp) | |
8 | g.64624527C= | CA1789668044 | CYP7B1 | c.135G= (p.Glu45=) c.201G= (p.Glu67=) | |
8 | g.64624527C>G | CA371339001 | CYP7B1 | c.135G>C (p.Glu45Asp) c.201G>C (p.Glu67Asp) | |
8 | g.64624527C>T | CA4764285 | CYP7B1 | c.135G>A (p.Glu45=) c.201G>A (p.Glu67=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.64624528T>A | CA371339005 | CYP7B1 | c.134A>T (p.Glu45Val) c.200A>T (p.Glu67Val) | |
8 | g.64624528T>C | CA371339006 | CYP7B1 | c.134A>G (p.Glu45Gly) c.200A>G (p.Glu67Gly) | |
8 | g.64624528T>G | CA371339007 | CYP7B1 | c.134A>C (p.Glu45Ala) c.200A>C (p.Glu67Ala) | |
8 | g.64624529C>A | CA371339009 | CYP7B1 | c.133G>T (p.Glu45Ter) c.199G>T (p.Glu67Ter) | |
8 | g.64624529C>G | CA371339011 | CYP7B1 | c.133G>C (p.Glu45Gln) c.199G>C (p.Glu67Gln) | |
8 | g.64624529C>T | CA371339013 | CYP7B1 | c.133G>A (p.Glu45Lys) c.199G>A (p.Glu67Lys) | |
8 | g.64624530A>C | CA461121179 | CYP7B1 | c.132T>G (p.Gly44=) c.198T>G (p.Gly66=) | |
8 | g.64624530A>G | CA461121180 | CYP7B1 | c.132T>C (p.Gly44=) c.198T>C (p.Gly66=) | |
8 | g.64624530A>T | CA461121181 | CYP7B1 | c.132T>A (p.Gly44=) c.198T>A (p.Gly66=) | |
8 | g.64624531C>A | CA371339016 | CYP7B1 | c.131G>T (p.Gly44Val) c.197G>T (p.Gly66Val) | gnomAD v4 |
8 | g.64624531C= | CA1789668045 | CYP7B1 | c.131G= (p.Gly44=) c.197G= (p.Gly66=) | |
8 | g.64624531C>G | CA371339018 | CYP7B1 | c.131G>C (p.Gly44Ala) c.197G>C (p.Gly66Ala) | |
8 | g.64624531C>T | CA4764286 | CYP7B1 | c.131G>A (p.Gly44Asp) c.197G>A (p.Gly66Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.64624532C>A | CA371339023 | CYP7B1 | c.130G>T (p.Gly44Cys) c.196G>T (p.Gly66Cys) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.64624532C= | CA1789668046 | CYP7B1 | c.130G= (p.Gly44=) c.196G= (p.Gly66=) | |
8 | g.64624532C>G | CA371339020 | CYP7B1 | c.130G>C (p.Gly44Arg) c.196G>C (p.Gly66Arg) | gnomAD v4 |
8 | g.64624532C>T | CA178391968 | CYP7B1 | c.130G>A (p.Gly44Ser) c.196G>A (p.Gly66Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
8 | g.64624533G>A | CA461121184 | CYP7B1 | c.129C>T (p.Pro43=) c.195C>T (p.Pro65=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
8 | g.64624533G>C | CA461121183 | CYP7B1 | c.129C>G (p.Pro43=) c.195C>G (p.Pro65=) | |
8 | g.64624533G= | CA1789668047 | CYP7B1 | c.129C= (p.Pro43=) c.195C= (p.Pro65=) | |
8 | g.64624533G>T | CA461121182 | CYP7B1 | c.129C>A (p.Pro43=) c.195C>A (p.Pro65=) | |
8 | g.64624534G>A | CA4764287 | CYP7B1 | c.128C>T (p.Pro43Leu) c.194C>T (p.Pro65Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.64624534G>C | CA371339026 | CYP7B1 | c.128C>G (p.Pro43Arg) c.194C>G (p.Pro65Arg) | |
8 | g.64624534G= | CA1789668048 | CYP7B1 | c.128C= (p.Pro43=) c.194C= (p.Pro65=) | |
8 | g.64624534G>T | CA371339027 | CYP7B1 | c.128C>A (p.Pro43His) c.194C>A (p.Pro65His) | gnomAD v4 |
8 | g.64624535G>A | CA371339030 | CYP7B1 | c.127C>T (p.Pro43Ser) c.193C>T (p.Pro65Ser) | |
8 | g.64624535G>C | CA371339032 | CYP7B1 | c.127C>G (p.Pro43Ala) c.193C>G (p.Pro65Ala) | |
8 | g.64624535G>T | CA371339033 | CYP7B1 | c.127C>A (p.Pro43Thr) c.193C>A (p.Pro65Thr) | gnomAD v4 |
8 | g.64624536T>A | CA371339035 | CYP7B1 | c.126A>T (p.Arg42Ser) c.192A>T (p.Arg64Ser) | |
8 | g.64624536T>C | CA461121185 | CYP7B1 | c.126A>G (p.Arg42=) c.192A>G (p.Arg64=) | |
8 | g.64624536T>G | CA371339037 | CYP7B1 | c.126A>C (p.Arg42Ser) c.192A>C (p.Arg64Ser) | dbSNP |
8 | g.64624537C>A | CA371339039 | CYP7B1 | c.125G>T (p.Arg42Ile) c.191G>T (p.Arg64Ile) | |
8 | g.64624537C= | CA1789668049 | CYP7B1 | c.125G= (p.Arg42=) c.191G= (p.Arg64=) | |
8 | g.64624537C>G | CA371339041 | CYP7B1 | c.125G>C (p.Arg42Thr) c.191G>C (p.Arg64Thr) | |
8 | g.64624537C>T | CA4764288 | CYP7B1 | c.125G>A (p.Arg42Lys) c.191G>A (p.Arg64Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.64624538T>A | CA371339044 | CYP7B1 | c.124A>T (p.Arg42Ter) c.190A>T (p.Arg64Ter) | |
8 | g.64624538T>C | CA371339046 | CYP7B1 | c.124A>G (p.Arg42Gly) c.190A>G (p.Arg64Gly) | |
8 | g.64624538T>G | CA461121186 | CYP7B1 | c.124A>C (p.Arg42=) c.190A>C (p.Arg64=) | |
8 | g.64624539C>A | CA371339050 | CYP7B1 | c.123G>T (p.Arg41Ser) c.189G>T (p.Arg63Ser) | COSMIC |
8 | g.64624539C>G | CA371339048 | CYP7B1 | c.123G>C (p.Arg41Ser) c.189G>C (p.Arg63Ser) | |
8 | g.64624539C>T | CA461121187 | CYP7B1 | c.123G>A (p.Arg41=) c.189G>A (p.Arg63=) | COSMIC |
8 | g.64624540C>A | CA371339052 | CYP7B1 | c.123-1G>T (n.123-1G>T) c.189-1G>T (n.189-1G>T) | |
8 | g.64624540C>G | CA371339057 | CYP7B1 | c.123-1G>C (n.123-1G>C) c.189-1G>C (n.189-1G>C) | |
8 | g.64624540C>T | CA371339055 | CYP7B1 | c.123-1G>A (n.123-1G>A) c.189-1G>A (n.189-1G>A) | |
8 | g.64624541del | CA2780623685 | CYP7B1 | c.123-2del (n.123-2del) c.189-2del (n.189-2del) | |
8 | g.64624541T>A | CA371339060 | CYP7B1 | c.123-2A>T (n.123-2A>T) c.189-2A>T (n.189-2A>T) | gnomAD v4 |
8 | g.64624541T>C | CA371339061 | CYP7B1 | c.123-2A>G (n.123-2A>G) c.189-2A>G (n.189-2A>G) | |
8 | g.64624541T>G | CA371339063 | CYP7B1 | c.123-2A>C (n.123-2A>C) c.189-2A>C (n.189-2A>C) | |
8 | g.64624542A>G | CA2573143287 | CYP7B1 | c.123-3T>C (n.123-3T>C) c.189-3T>C (n.189-3T>C) | ClinVar dbSNP |
8 | g.64624542dup | CA913141821 | CYP7B1 | c.123-3dup (n.123-3dup) c.189-3dup (n.189-3dup) | gnomAD v4 |
8 | g.64624543C>A | CA582409117 | CYP7B1 | c.123-4G>T (n.123-4G>T) c.189-4G>T (n.189-4G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.64624543C= | CA1789668050 | CYP7B1 | c.123-4G= (n.123-4G=) c.189-4G= (n.189-4G=) | |
8 | g.64624543C>T | CA4764289 | CYP7B1 | c.123-4G>A (n.123-4G>A) c.189-4G>A (n.189-4G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.64624544A= | CA1789668051 | CYP7B1 | c.123-5T= (n.123-5T=) c.189-5T= (n.189-5T=) | |
8 | g.64624544A>C | CA1114697506 | CYP7B1 | c.123-5T>G (n.123-5T>G) c.189-5T>G (n.189-5T>G) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.64624545dup | CA2687454856 | CYP7B1 | c.123-5dup (n.123-5dup) c.189-5dup (n.189-5dup) | gnomAD v4 |
8 | g.64624545A= | CA1789668052 | CYP7B1 | c.123-6T= (n.123-6T=) c.189-6T= (n.189-6T=) | |
8 | g.64624545A>T | CA178391974 | CYP7B1 | c.123-6T>A (n.123-6T>A) c.189-6T>A (n.189-6T>A) | dbSNP gnomAD v4 |
8 | g.64624546G>A | CA582409118 | CYP7B1 | c.123-7C>T (n.123-7C>T) c.189-7C>T (n.189-7C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
8 | g.64624546G>C | CA582409119 | CYP7B1 | c.123-7C>G (n.123-7C>G) c.189-7C>G (n.189-7C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.64624546G= | CA1789668053 | CYP7B1 | c.123-7C= (n.123-7C=) c.189-7C= (n.189-7C=) | |
8 | g.64624546G>T | CA2687454858 | CYP7B1 | c.123-7C>A (n.123-7C>A) c.189-7C>A (n.189-7C>A) | gnomAD v4 |
8 | g.64624546_64624547del | CA2780623686 | CYP7B1 | c.123-8_123-7del (n.123-8_123-7del) c.189-8_189-7del (n.189-8_189-7del) | |
8 | g.64624547del | CA2687454857 | CYP7B1 | c.123-7del (n.123-7del) c.189-7del (n.189-7del) | gnomAD v4 |
8 | g.64624547G>A | CA582409120 | CYP7B1 | c.123-8C>T (n.123-8C>T) c.189-8C>T (n.189-8C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.64624547G= | CA1789668055 | CYP7B1 | c.123-8C= (n.123-8C=) c.189-8C= (n.189-8C=) | |
8 | g.64624547_64624549delinsGAA | CA1789668054 | CYP7B1 | c.123-10_123-8delinsTTC (n.123-10_123-8delinsTTC) c.189-10_189-8delinsTTC (n.189-10_189-8delinsTTC) | |
8 | g.64624548A= | CA1789668056 | CYP7B1 | c.123-9T= (n.123-9T=) c.189-9T= (n.189-9T=) | |
8 | g.64624548A>G | CA178391982 | CYP7B1 | c.123-9T>C (n.123-9T>C) c.189-9T>C (n.189-9T>C) | ClinVar dbSNP gnomAD v4 |
8 | g.64624548A>T | CA2687454861 | CYP7B1 | c.123-9T>A (n.123-9T>A) c.189-9T>A (n.189-9T>A) | gnomAD v4 |
8 | g.64624558dup | CA4764290 | CYP7B1 | c.123-9dup (n.123-9dup) c.189-9dup (n.189-9dup) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.64624557_64624558dup | CA4764292 | CYP7B1 | c.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 |
8 | g.64624556_64624558dup | CA2687454859 | CYP7B1 | c.123-11_123-9dup (n.123-11_123-9dup) c.189-11_189-9dup (n.189-11_189-9dup) | gnomAD v4 |
8 | g.64624558del | CA201634 | CYP7B1 | c.123-9del (n.123-9del) c.189-9del (n.189-9del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
8 | g.64624557_64624558del | CA4764291 | CYP7B1 | c.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 |
8 | g.64624556_64624558del | CA582409121 | CYP7B1 | c.123-11_123-9del (n.123-11_123-9del) c.189-11_189-9del (n.189-11_189-9del) | gnomAD v2 gnomAD v4 |
8 | g.64624555_64624558del | CA2687454860 | CYP7B1 | c.123-12_123-9del (n.123-12_123-9del) c.189-12_189-9del (n.189-12_189-9del) | gnomAD v4 |
8 | g.64624549A>G | CA2687454862 | CYP7B1 | c.123-10T>C (n.123-10T>C) c.189-10T>C (n.189-10T>C) | gnomAD v4 |
8 | g.64624552A= | CA1789668057 | CYP7B1 | c.123-13T= (n.123-13T=) c.189-13T= (n.189-13T=) | |
8 | g.64624552A>C | CA2687454863 | CYP7B1 | c.123-13T>G (n.123-13T>G) c.189-13T>G (n.189-13T>G) | gnomAD v4 |
8 | g.64624552A>G | CA4764293 | CYP7B1 | c.123-13T>C (n.123-13T>C) c.189-13T>C (n.189-13T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.64624553A>T | CA2687454864 | CYP7B1 | c.123-14T>A (n.123-14T>A) c.189-14T>A (n.189-14T>A) | gnomAD v4 |
8 | g.64624555A>T | CA2580078891 | CYP7B1 | c.123-16T>A (n.123-16T>A) c.189-16T>A (n.189-16T>A) | ClinVar |
8 | g.64624555_64624556insGA | CA2780623687 | CYP7B1 | c.123-16_123-15insCT (n.123-16_123-15insCT) c.189-16_189-15insCT (n.189-16_189-15insCT) | |
8 | g.64624556A= | CA1789668058 | CYP7B1 | c.123-17T= (n.123-17T=) c.189-17T= (n.189-17T=) | |
8 | g.64624556A>G | CA582409122 | CYP7B1 | c.123-17T>C (n.123-17T>C) c.189-17T>C (n.189-17T>C) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
8 | g.64624556_64624557insG | CA2579176612 | CYP7B1 | c.123-18_123-17insC (n.123-18_123-17insC) c.189-18_189-17insC (n.189-18_189-17insC) | gnomAD v4 |
8 | g.64624557A>C | CA2687454865 | CYP7B1 | c.123-18T>G (n.123-18T>G) c.189-18T>G (n.189-18T>G) | gnomAD v4 |
8 | g.64624557A>G | CA2687454866 | CYP7B1 | c.123-18T>C (n.123-18T>C) c.189-18T>C (n.189-18T>C) | gnomAD v4 |
8 | g.64624558A>G | CA2687454867 | CYP7B1 | c.123-19T>C (n.123-19T>C) c.189-19T>C (n.189-19T>C) | gnomAD v4 |
8 | g.64624559del | CA2579176613 | CYP7B1 | c.123-20del (n.123-20del) c.189-20del (n.189-20del) | |
8 | g.64624559G>A | CA2687454868 | CYP7B1 | c.123-20C>T (n.123-20C>T) c.189-20C>T (n.189-20C>T) | gnomAD v4 |
8 | g.64624559G>C | CA4764294 | CYP7B1 | c.123-20C>G (n.123-20C>G) c.189-20C>G (n.189-20C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.64624559G= | CA1789668059 | CYP7B1 | c.123-20C= (n.123-20C=) c.189-20C= (n.189-20C=) | |
8 | g.64624559G>T | CA2687454869 | CYP7B1 | c.123-20C>A (n.123-20C>A) c.189-20C>A (n.189-20C>A) | gnomAD v4 |
8 | g.64624561_64624562del | CA2780623688 | CYP7B1 | c.123-22_123-21del (n.123-22_123-21del) c.189-22_189-21del (n.189-22_189-21del) | |
8 | g.64624561T>A | CA4764295 | CYP7B1 | c.123-22A>T (n.123-22A>T) c.189-22A>T (n.189-22A>T) | dbSNP ExAC gnomAD v2 |
8 | g.64624561T>C | CA4764296 | CYP7B1 | c.123-22A>G (n.123-22A>G) c.189-22A>G (n.189-22A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.64624561T= | CA1789668060 | CYP7B1 | c.123-22A= (n.123-22A=) c.189-22A= (n.189-22A=) | |
8 | g.64624562A>G | CA651842113 | CYP7B1 | c.123-23T>C (n.123-23T>C) c.189-23T>C (n.189-23T>C) | COSMIC |
8 | g.64624563A>G | CA2687454870 | CYP7B1 | c.123-24T>C (n.123-24T>C) c.189-24T>C (n.189-24T>C) | gnomAD v4 |
8 | g.64624564A>G | CA2687454871 | CYP7B1 | c.123-25T>C (n.123-25T>C) c.189-25T>C (n.189-25T>C) | gnomAD v4 |