Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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.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) |