Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
8 | g.64616120A>C | CA371335792 | CYP7B1 | c.421T>G (p.Cys141Gly) c.487T>G (p.Cys163Gly) | |
8 | g.64616120A>G | CA371335793 | CYP7B1 | c.421T>C (p.Cys141Arg) c.487T>C (p.Cys163Arg) | |
8 | g.64616120A>T | CA371335794 | CYP7B1 | c.421T>A (p.Cys141Ser) c.487T>A (p.Cys163Ser) | |
8 | g.64616120dup | CA2573143286 | CYP7B1 | c.421dup (p.Cys141LeufsTer26) c.487dup (p.Cys163LeufsTer26) | ClinVar dbSNP |
8 | g.64616121G>A | CA461420436 | CYP7B1 | c.420C>T (p.Leu140=) c.486C>T (p.Leu162=) | |
8 | g.64616121G>C | CA461420437 | CYP7B1 | c.420C>G (p.Leu140=) c.486C>G (p.Leu162=) | |
8 | g.64616121G>T | CA461420438 | CYP7B1 | c.420C>A (p.Leu140=) c.486C>A (p.Leu162=) | |
8 | g.64616122A>C | CA371335795 | CYP7B1 | c.419T>G (p.Leu140Arg) c.485T>G (p.Leu162Arg) | |
8 | g.64616122A>G | CA371335797 | CYP7B1 | c.419T>C (p.Leu140Pro) c.485T>C (p.Leu162Pro) | |
8 | g.64616122A>T | CA371335796 | CYP7B1 | c.419T>A (p.Leu140His) c.485T>A (p.Leu162His) | |
8 | g.64616123G>A | CA371335798 | CYP7B1 | c.418C>T (p.Leu140Phe) c.484C>T (p.Leu162Phe) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
8 | g.64616123G>C | CA371335799 | CYP7B1 | c.418C>G (p.Leu140Val) c.484C>G (p.Leu162Val) | |
8 | g.64616123G= | CA1789664465 | CYP7B1 | c.418C= (p.Leu140=) c.484C= (p.Leu162=) | |
8 | g.64616123G>T | CA371335800 | CYP7B1 | c.418C>A (p.Leu140Ile) c.484C>A (p.Leu162Ile) | |
8 | g.64616124del | CA2740095057 | CYP7B1 | c.418del (p.Leu140SerfsTer18) c.484del (p.Leu162SerfsTer18) | ClinVar |
8 | g.64616124G>A | CA461421859 | CYP7B1 | c.417C>T (p.His139=) c.483C>T (p.His161=) | |
8 | g.64616124G>C | CA371335801 | CYP7B1 | c.417C>G (p.His139Gln) c.483C>G (p.His161Gln) | gnomAD v4 |
8 | g.64616124G>T | CA371335802 | CYP7B1 | c.417C>A (p.His139Gln) c.483C>A (p.His161Gln) | |
8 | g.64616125T>A | CA371335803 | CYP7B1 | c.416A>T (p.His139Leu) c.482A>T (p.His161Leu) | ClinVar |
8 | g.64616125T>C | CA371335804 | CYP7B1 | c.416A>G (p.His139Arg) c.482A>G (p.His161Arg) | |
8 | g.64616125T>G | CA371335805 | CYP7B1 | c.416A>C (p.His139Pro) c.482A>C (p.His161Pro) | |
8 | g.64616126G>A | CA371335806 | CYP7B1 | c.415C>T (p.His139Tyr) c.481C>T (p.His161Tyr) | |
8 | g.64616126G>C | CA371335807 | CYP7B1 | c.415C>G (p.His139Asp) c.481C>G (p.His161Asp) | |
8 | g.64616126G>T | CA371335808 | CYP7B1 | c.415C>A (p.His139Asn) c.481C>A (p.His161Asn) | |
8 | g.64616127A>C | CA461421875 | CYP7B1 | c.414T>G (p.Leu138=) c.480T>G (p.Leu160=) | |
8 | g.64616127A>G | CA461421877 | CYP7B1 | c.414T>C (p.Leu138=) c.480T>C (p.Leu160=) | |
8 | g.64616127A>T | CA461421878 | CYP7B1 | c.414T>A (p.Leu138=) c.480T>A (p.Leu160=) | |
8 | g.64616128A>C | CA371335809 | CYP7B1 | c.413T>G (p.Leu138Arg) c.479T>G (p.Leu160Arg) | |
8 | g.64616128A>G | CA371335811 | CYP7B1 | c.413T>C (p.Leu138Pro) c.479T>C (p.Leu160Pro) | COSMIC |
8 | g.64616128A>T | CA371335810 | CYP7B1 | c.413T>A (p.Leu138His) c.479T>A (p.Leu160His) | |
8 | g.64616129G>A | CA371335812 | CYP7B1 | c.412C>T (p.Leu138Phe) c.478C>T (p.Leu160Phe) | gnomAD v4 |
8 | g.64616129G>C | CA371335813 | CYP7B1 | c.412C>G (p.Leu138Val) c.478C>G (p.Leu160Val) | |
8 | g.64616129G>T | CA371335814 | CYP7B1 | c.412C>A (p.Leu138Ile) c.478C>A (p.Leu160Ile) | gnomAD v4 |
8 | g.64616130C>A | CA371335815 | CYP7B1 | c.411G>T (p.Glu137Asp) c.477G>T (p.Glu159Asp) | |
8 | g.64616130C= | CA1789664466 | CYP7B1 | c.411G= (p.Glu137=) c.477G= (p.Glu159=) | |
8 | g.64616130C>G | CA371335816 | CYP7B1 | c.411G>C (p.Glu137Asp) c.477G>C (p.Glu159Asp) | |
8 | g.64616130C>T | CA461421891 | CYP7B1 | c.411G>A (p.Glu137=) c.477G>A (p.Glu159=) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.64616131T>A | CA371335817 | CYP7B1 | c.410A>T (p.Glu137Val) c.476A>T (p.Glu159Val) | |
8 | g.64616131T>C | CA178389760 | CYP7B1 | c.410A>G (p.Glu137Gly) c.476A>G (p.Glu159Gly) | dbSNP gnomAD v4 |
8 | g.64616131T>G | CA371335818 | CYP7B1 | c.410A>C (p.Glu137Ala) c.476A>C (p.Glu159Ala) | |
8 | g.64616131T= | CA1789664467 | CYP7B1 | c.410A= (p.Glu137=) c.476A= (p.Glu159=) | |
8 | g.64616132C>A | CA371335819 | CYP7B1 | c.409G>T (p.Glu137Ter) c.475G>T (p.Glu159Ter) | |
8 | g.64616132C= | CA1789664468 | CYP7B1 | c.409G= (p.Glu137=) c.475G= (p.Glu159=) | |
8 | g.64616132C>G | CA371335821 | CYP7B1 | c.409G>C (p.Glu137Gln) c.475G>C (p.Glu159Gln) | |
8 | g.64616132C>T | CA371335820 | CYP7B1 | c.409G>A (p.Glu137Lys) c.475G>A (p.Glu159Lys) | dbSNP gnomAD v2 |
8 | g.64616133A>C | CA371335822 | CYP7B1 | c.408T>G (p.Asp136Glu) c.474T>G (p.Asp158Glu) | |
8 | g.64616133A>G | CA461421903 | CYP7B1 | c.408T>C (p.Asp136=) c.474T>C (p.Asp158=) | |
8 | g.64616133A>T | CA371335823 | CYP7B1 | c.408T>A (p.Asp136Glu) c.474T>A (p.Asp158Glu) | |
8 | g.64616134T>A | CA371335824 | CYP7B1 | c.407A>T (p.Asp136Val) c.473A>T (p.Asp158Val) | |
8 | g.64616134T>C | CA371335825 | CYP7B1 | c.407A>G (p.Asp136Gly) c.473A>G (p.Asp158Gly) | gnomAD v4 |
8 | g.64616134T>G | CA371335826 | CYP7B1 | c.407A>C (p.Asp136Ala) c.473A>C (p.Asp158Ala) | |
8 | g.64616135C>A | CA178389764 | CYP7B1 | c.406G>T (p.Asp136Tyr) c.472G>T (p.Asp158Tyr) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.64616135C= | CA1789664469 | CYP7B1 | c.406G= (p.Asp136=) c.472G= (p.Asp158=) | |
8 | g.64616135C>G | CA371335828 | CYP7B1 | c.406G>C (p.Asp136His) c.472G>C (p.Asp158His) | COSMIC |
8 | g.64616135C>T | CA371335827 | CYP7B1 | c.406G>A (p.Asp136Asn) c.472G>A (p.Asp158Asn) | gnomAD v4 |
8 | g.64616136A= | CA1789664470 | CYP7B1 | c.405T= (p.Asn135=) c.471T= (p.Asn157=) | |
8 | g.64616136A>C | CA371335829 | CYP7B1 | c.405T>G (p.Asn135Lys) c.471T>G (p.Asn157Lys) | |
8 | g.64616136A>G | CA4764214 | CYP7B1 | c.405T>C (p.Asn135=) c.471T>C (p.Asn157=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.64616136A>T | CA371335830 | CYP7B1 | c.405T>A (p.Asn135Lys) c.471T>A (p.Asn157Lys) | |
8 | g.64616137T>A | CA371335831 | CYP7B1 | c.404A>T (p.Asn135Ile) c.470A>T (p.Asn157Ile) | |
8 | g.64616137T>C | CA371335832 | CYP7B1 | c.404A>G (p.Asn135Ser) c.470A>G (p.Asn157Ser) | gnomAD v4 |
8 | g.64616137T>G | CA371335833 | CYP7B1 | c.404A>C (p.Asn135Thr) c.470A>C (p.Asn157Thr) | |
8 | g.64616137_64616142delinsTTCATG | CA1789664471 | CYP7B1 | c.399_404delinsCATGAA (p.Asp133=) c.465_470delinsCATGAA (p.Asp155=) | |
8 | g.64616138T>A | CA371335834 | CYP7B1 | c.403A>T (p.Asn135Tyr) c.469A>T (p.Asn157Tyr) | |
8 | g.64616138T>C | CA4764215 | CYP7B1 | c.403A>G (p.Asn135Asp) c.469A>G (p.Asn157Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.64616138T>G | CA371335835 | CYP7B1 | c.403A>C (p.Asn135His) c.469A>C (p.Asn157His) | |
8 | g.64616138T= | CA1789664472 | CYP7B1 | c.403A= (p.Asn135=) c.469A= (p.Asn157=) | |
8 | g.64616143_64616147del | CA1139660590 | CYP7B1 | c.399_403del (p.Asp133GlufsTer2) c.465_469del (p.Asp155GlufsTer2) | ClinVar dbSNP |
8 | g.64616139C>A | CA371335836 | CYP7B1 | c.402G>T (p.Met134Ile) c.468G>T (p.Met156Ile) | |
8 | g.64616139C>G | CA371335837 | CYP7B1 | c.402G>C (p.Met134Ile) c.468G>C (p.Met156Ile) | |
8 | g.64616139C>T | CA371335838 | CYP7B1 | c.402G>A (p.Met134Ile) c.468G>A (p.Met156Ile) | ClinVar gnomAD v4 |
8 | g.64616140A>C | CA371335839 | CYP7B1 | c.401T>G (p.Met134Arg) c.467T>G (p.Met156Arg) | |
8 | g.64616140A>G | CA371335841 | CYP7B1 | c.401T>C (p.Met134Thr) c.467T>C (p.Met156Thr) | gnomAD v4 |
8 | g.64616140A>T | CA371335840 | CYP7B1 | c.401T>A (p.Met134Lys) c.467T>A (p.Met156Lys) | |
8 | g.64616141T>A | CA371335842 | CYP7B1 | c.400A>T (p.Met134Leu) c.466A>T (p.Met156Leu) | |
8 | g.64616141T>C | CA371335843 | CYP7B1 | c.400A>G (p.Met134Val) c.466A>G (p.Met156Val) | dbSNP gnomAD v4 |
8 | g.64616141T>G | CA371335844 | CYP7B1 | c.400A>C (p.Met134Leu) c.466A>C (p.Met156Leu) | |
8 | g.64616141T= | CA1789664473 | CYP7B1 | c.400A= (p.Met134=) c.466A= (p.Met156=) | |
8 | g.64616142G>A | CA178389771 | CYP7B1 | c.399C>T (p.Asp133=) c.465C>T (p.Asp155=) | dbSNP gnomAD v4 |
8 | g.64616142G>C | CA371335845 | CYP7B1 | c.399C>G (p.Asp133Glu) c.465C>G (p.Asp155Glu) | |
8 | g.64616142G= | CA1789664474 | CYP7B1 | c.399C= (p.Asp133=) c.465C= (p.Asp155=) | |
8 | g.64616142G>T | CA371335846 | CYP7B1 | c.399C>A (p.Asp133Glu) c.465C>A (p.Asp155Glu) | |
8 | g.64616143T>A | CA371335849 | CYP7B1 | c.398A>T (p.Asp133Val) c.464A>T (p.Asp155Val) | |
8 | g.64616143T>C | CA371335847 | CYP7B1 | c.398A>G (p.Asp133Gly) c.464A>G (p.Asp155Gly) | |
8 | g.64616143T>G | CA371335848 | CYP7B1 | c.398A>C (p.Asp133Ala) c.464A>C (p.Asp155Ala) | |
8 | g.64616144C>A | CA371335850 | CYP7B1 | c.397G>T (p.Asp133Tyr) c.463G>T (p.Asp155Tyr) | gnomAD v4 |
8 | g.64616144C>G | CA371335851 | CYP7B1 | c.397G>C (p.Asp133His) c.463G>C (p.Asp155His) | |
8 | g.64616144C>T | CA371335852 | CYP7B1 | c.397G>A (p.Asp133Asn) c.463G>A (p.Asp155Asn) | COSMIC |
8 | g.64616145A>C | CA371335853 | CYP7B1 | c.396T>G (p.His132Gln) c.462T>G (p.His154Gln) | COSMIC |
8 | g.64616145A>G | CA461421943 | CYP7B1 | c.396T>C (p.His132=) c.462T>C (p.His154=) | |
8 | g.64616145A>T | CA371335854 | CYP7B1 | c.396T>A (p.His132Gln) c.462T>A (p.His154Gln) | |
8 | g.64616146T>A | CA371335855 | CYP7B1 | c.395A>T (p.His132Leu) c.461A>T (p.His154Leu) | dbSNP |
8 | g.64616146T>C | CA371335857 | CYP7B1 | c.395A>G (p.His132Arg) c.461A>G (p.His154Arg) | |
8 | g.64616146T>G | CA371335856 | CYP7B1 | c.395A>C (p.His132Pro) c.461A>C (p.His154Pro) | gnomAD v4 |
8 | g.64616147G>A | CA4764216 | CYP7B1 | c.394C>T (p.His132Tyr) c.460C>T (p.His154Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
8 | g.64616147G>C | CA371335858 | CYP7B1 | c.394C>G (p.His132Asp) c.460C>G (p.His154Asp) | |
8 | g.64616147G= | CA1789664475 | CYP7B1 | c.394C= (p.His132=) c.460C= (p.His154=) | |
8 | g.64616147G>T | CA371335859 | CYP7B1 | c.394C>A (p.His132Asn) c.460C>A (p.His154Asn) | |
8 | g.64616147_64616148insT | CA645545662 | CYP7B1 | c.393_394insA (p.His132ThrfsTer2) c.459_460insA (p.His154ThrfsTer2) | COSMIC |
8 | g.64616148A>C | CA371335860 | CYP7B1 | c.393T>G (p.Asn131Lys) c.459T>G (p.Asn153Lys) | |
8 | g.64616148A>G | CA461421952 | CYP7B1 | c.393T>C (p.Asn131=) c.459T>C (p.Asn153=) | |
8 | g.64616148A>T | CA371335861 | CYP7B1 | c.393T>A (p.Asn131Lys) c.459T>A (p.Asn153Lys) | gnomAD v4 |
8 | g.64616148_64616149delinsAT | CA1789664476 | CYP7B1 | c.392_393delinsAT (p.Asn131=) c.458_459delinsAT (p.Asn153=) | |
8 | g.64616149T>A | CA371335862 | CYP7B1 | c.392A>T (p.Asn131Ile) c.458A>T (p.Asn153Ile) | gnomAD v4 |
8 | g.64616149T>C | CA4764219 | CYP7B1 | c.392A>G (p.Asn131Ser) c.458A>G (p.Asn153Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
8 | g.64616149T>G | CA371335863 | CYP7B1 | c.392A>C (p.Asn131Thr) c.458A>C (p.Asn153Thr) | |
8 | g.64616149T= | CA1789664477 | CYP7B1 | c.392A= (p.Asn131=) c.458A= (p.Asn153=) | |
8 | g.64616155dup | CA4764218 | CYP7B1 | c.392dup (p.Asn131LysfsTer3) c.458dup (p.Asn153LysfsTer3) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
8 | g.64616155del | CA4764217 | CYP7B1 | c.392del (p.Asn131IlefsTer4) c.458del (p.Asn153IlefsTer4) | dbSNP ExAC COSMIC |
8 | g.64616149_64616150insA | CA461421965 | CYP7B1 | c.391_392insT (p.Asn131IlefsTer3) c.457_458insT (p.Asn153IlefsTer3) | |
8 | g.64616150T>A | CA371335864 | CYP7B1 | c.391A>T (p.Asn131Tyr) c.457A>T (p.Asn153Tyr) | |
8 | g.64616150T>C | CA371335866 | CYP7B1 | c.391A>G (p.Asn131Asp) c.457A>G (p.Asn153Asp) | gnomAD v4 |
8 | g.64616150T>G | CA371335865 | CYP7B1 | c.391A>C (p.Asn131His) c.457A>C (p.Asn153His) | |
8 | g.64616151T>A | CA371335867 | CYP7B1 | c.390A>T (p.Lys130Asn) c.456A>T (p.Lys152Asn) | |
8 | g.64616151T>C | CA461421970 | CYP7B1 | c.390A>G (p.Lys130=) c.456A>G (p.Lys152=) | |
8 | g.64616151T>G | CA371335868 | CYP7B1 | c.390A>C (p.Lys130Asn) c.456A>C (p.Lys152Asn) | gnomAD v4 COSMIC |
8 | g.64616152T>A | CA371335869 | CYP7B1 | c.389A>T (p.Lys130Ile) c.455A>T (p.Lys152Ile) | |
8 | g.64616152T>C | CA371335870 | CYP7B1 | c.389A>G (p.Lys130Arg) c.455A>G (p.Lys152Arg) | COSMIC |
8 | g.64616152T>G | CA371335871 | CYP7B1 | c.389A>C (p.Lys130Thr) c.455A>C (p.Lys152Thr) | COSMIC |
8 | g.64616153T>A | CA371335872 | CYP7B1 | c.388A>T (p.Lys130Ter) c.454A>T (p.Lys152Ter) | |
8 | g.64616153T>C | CA371335873 | CYP7B1 | c.388A>G (p.Lys130Glu) c.454A>G (p.Lys152Glu) | |
8 | g.64616153T>G | CA371335874 | CYP7B1 | c.388A>C (p.Lys130Gln) c.454A>C (p.Lys152Gln) | |
8 | g.64616154T>A | CA371335875 | CYP7B1 | c.387A>T (p.Gln129His) c.453A>T (p.Gln151His) | |
8 | g.64616154T>C | CA461421979 | CYP7B1 | c.387A>G (p.Gln129=) c.453A>G (p.Gln151=) | |
8 | g.64616154T>G | CA371335876 | CYP7B1 | c.387A>C (p.Gln129His) c.453A>C (p.Gln151His) | COSMIC |
8 | g.64616155T>A | CA371335877 | CYP7B1 | c.386A>T (p.Gln129Leu) c.452A>T (p.Gln151Leu) | |
8 | g.64616155T>C | CA371335878 | CYP7B1 | c.386A>G (p.Gln129Arg) c.452A>G (p.Gln151Arg) | |
8 | g.64616155T>G | CA371335879 | CYP7B1 | c.386A>C (p.Gln129Pro) c.452A>C (p.Gln151Pro) | |
8 | g.64616156G>A | CA371335882 | CYP7B1 | c.385C>T (p.Gln129Ter) c.451C>T (p.Gln151Ter) | |
8 | g.64616156G>C | CA371335881 | CYP7B1 | c.385C>G (p.Gln129Glu) c.451C>G (p.Gln151Glu) | |
8 | g.64616156G>T | CA371335880 | CYP7B1 | c.385C>A (p.Gln129Lys) c.451C>A (p.Gln151Lys) | gnomAD v4 |
8 | g.64616157C>A | CA371335883 | CYP7B1 | c.384G>T (p.Leu128Phe) c.450G>T (p.Leu150Phe) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.64616157C= | CA1789664478 | CYP7B1 | c.384G= (p.Leu128=) c.450G= (p.Leu150=) | |
8 | g.64616157C>G | CA371335884 | CYP7B1 | c.384G>C (p.Leu128Phe) c.450G>C (p.Leu150Phe) | |
8 | g.64616157C>T | CA461421989 | CYP7B1 | c.384G>A (p.Leu128=) c.450G>A (p.Leu150=) | |
8 | g.64616158A>C | CA371335885 | CYP7B1 | c.383T>G (p.Leu128Trp) c.449T>G (p.Leu150Trp) | |
8 | g.64616158A>G | CA371335886 | CYP7B1 | c.383T>C (p.Leu128Ser) c.449T>C (p.Leu150Ser) | |
8 | g.64616158A>T | CA371335887 | CYP7B1 | c.383T>A (p.Leu128Ter) c.449T>A (p.Leu150Ter) | |
8 | g.64616159A>C | CA371335888 | CYP7B1 | c.382T>G (p.Leu128Val) c.448T>G (p.Leu150Val) | |
8 | g.64616159A>G | CA461421995 | CYP7B1 | c.382T>C (p.Leu128=) c.448T>C (p.Leu150=) | |
8 | g.64616159A>T | CA371335889 | CYP7B1 | c.382T>A (p.Leu128Met) c.448T>A (p.Leu150Met) | |
8 | g.64616160C>A | CA371335890 | CYP7B1 | c.381G>T (p.Gln127His) c.447G>T (p.Gln149His) | gnomAD v4 |
8 | g.64616160C= | CA1789664479 | CYP7B1 | c.381G= (p.Gln127=) c.447G= (p.Gln149=) | |
8 | g.64616160C>G | CA371335891 | CYP7B1 | c.381G>C (p.Gln127His) c.447G>C (p.Gln149His) | |
8 | g.64616160C>T | CA461422000 | CYP7B1 | c.381G>A (p.Gln127=) c.447G>A (p.Gln149=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.64616161T>A | CA371335892 | CYP7B1 | c.380A>T (p.Gln127Leu) c.446A>T (p.Gln149Leu) | |
8 | g.64616161T>C | CA371335893 | CYP7B1 | c.380A>G (p.Gln127Arg) c.446A>G (p.Gln149Arg) | |
8 | g.64616161T>G | CA371335894 | CYP7B1 | c.380A>C (p.Gln127Pro) c.446A>C (p.Gln149Pro) | |
8 | g.64616162G>A | CA371335896 | CYP7B1 | c.379C>T (p.Gln127Ter) c.445C>T (p.Gln149Ter) | |
8 | g.64616162G>C | CA4764220 | CYP7B1 | c.379C>G (p.Gln127Glu) c.445C>G (p.Gln149Glu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.64616162G= | CA1789664480 | CYP7B1 | c.379C= (p.Gln127=) c.445C= (p.Gln149=) | |
8 | g.64616162G>T | CA371335895 | CYP7B1 | c.379C>A (p.Gln127Lys) c.445C>A (p.Gln149Lys) | gnomAD v4 |
8 | g.64616163A>C | CA371335897 | CYP7B1 | c.378T>G (p.Ser126Arg) c.444T>G (p.Ser148Arg) | |
8 | g.64616163A>G | CA461422010 | CYP7B1 | c.378T>C (p.Ser126=) c.444T>C (p.Ser148=) | |
8 | g.64616163A>T | CA371335898 | CYP7B1 | c.378T>A (p.Ser126Arg) c.444T>A (p.Ser148Arg) | |
8 | g.64616164C>A | CA371335899 | CYP7B1 | c.377G>T (p.Ser126Ile) c.443G>T (p.Ser148Ile) | |
8 | g.64616164C= | CA1789664481 | CYP7B1 | c.377G= (p.Ser126=) c.443G= (p.Ser148=) | |
8 | g.64616164C>G | CA371335900 | CYP7B1 | c.377G>C (p.Ser126Thr) c.443G>C (p.Ser148Thr) | |
8 | g.64616164C>T | CA371335901 | CYP7B1 | c.377G>A (p.Ser126Asn) c.443G>A (p.Ser148Asn) | dbSNP COSMIC |
8 | g.64616165T>A | CA371335902 | CYP7B1 | c.376A>T (p.Ser126Cys) c.442A>T (p.Ser148Cys) | |
8 | g.64616165T>C | CA371335903 | CYP7B1 | c.376A>G (p.Ser126Gly) c.442A>G (p.Ser148Gly) | |
8 | g.64616165T>G | CA371335904 | CYP7B1 | c.376A>C (p.Ser126Arg) c.442A>C (p.Ser148Arg) | |
8 | g.64616166G>A | CA4764221 | CYP7B1 | c.375C>T (p.Ile125=) c.441C>T (p.Ile147=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.64616166G>C | CA371335907 | CYP7B1 | c.375C>G (p.Ile125Met) c.441C>G (p.Ile147Met) | |
8 | g.64616166G= | CA1789664482 | CYP7B1 | c.375C= (p.Ile125=) c.441C= (p.Ile147=) | |
8 | g.64616166G>T | CA461422020 | CYP7B1 | c.375C>A (p.Ile125=) c.441C>A (p.Ile147=) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.64616167A>C | CA371335911 | CYP7B1 | c.374T>G (p.Ile125Ser) c.440T>G (p.Ile147Ser) | |
8 | g.64616167A>G | CA371335913 | CYP7B1 | c.374T>C (p.Ile125Thr) c.440T>C (p.Ile147Thr) | |
8 | g.64616167A>T | CA371335915 | CYP7B1 | c.374T>A (p.Ile125Asn) c.440T>A (p.Ile147Asn) | |
8 | g.64616168T>A | CA371335918 | CYP7B1 | c.373A>T (p.Ile125Phe) c.439A>T (p.Ile147Phe) | |
8 | g.64616168T>C | CA371335923 | CYP7B1 | c.373A>G (p.Ile125Val) c.439A>G (p.Ile147Val) | dbSNP gnomAD v4 |
8 | g.64616168T>G | CA371335921 | CYP7B1 | c.373A>C (p.Ile125Leu) c.439A>C (p.Ile147Leu) | |
8 | g.64616168T= | CA1789664483 | CYP7B1 | c.373A= (p.Ile125=) c.439A= (p.Ile147=) | |
8 | g.64616169G>A | CA461422032 | CYP7B1 | c.372C>T (p.Ser124=) c.438C>T (p.Ser146=) | |
8 | g.64616169G>C | CA371335926 | CYP7B1 | c.372C>G (p.Ser124Arg) c.438C>G (p.Ser146Arg) | |
8 | g.64616169G>T | CA371335928 | CYP7B1 | c.372C>A (p.Ser124Arg) c.438C>A (p.Ser146Arg) | gnomAD v4 |
8 | g.64616170C>A | CA371335931 | CYP7B1 | c.371G>T (p.Ser124Ile) c.437G>T (p.Ser146Ile) | |
8 | g.64616170C>G | CA371335932 | CYP7B1 | c.371G>C (p.Ser124Thr) c.437G>C (p.Ser146Thr) | |
8 | g.64616170C>T | CA371335934 | CYP7B1 | c.371G>A (p.Ser124Asn) c.437G>A (p.Ser146Asn) | gnomAD v4 |
8 | g.64616171T>A | CA371335938 | CYP7B1 | c.370A>T (p.Ser124Cys) c.436A>T (p.Ser146Cys) | |
8 | g.64616171T>C | CA371335940 | CYP7B1 | c.370A>G (p.Ser124Gly) c.436A>G (p.Ser146Gly) | gnomAD v4 |
8 | g.64616171T>G | CA371335942 | CYP7B1 | c.370A>C (p.Ser124Arg) c.436A>C (p.Ser146Arg) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.64616171T= | CA1789664484 | CYP7B1 | c.370A= (p.Ser124=) c.436A= (p.Ser146=) | |
8 | g.64616172A>C | CA371335944 | CYP7B1 | c.369T>G (p.Phe123Leu) c.435T>G (p.Phe145Leu) | |
8 | g.64616172A>G | CA461422040 | CYP7B1 | c.369T>C (p.Phe123=) c.435T>C (p.Phe145=) | |
8 | g.64616172A>T | CA371335946 | CYP7B1 | c.369T>A (p.Phe123Leu) c.435T>A (p.Phe145Leu) | |
8 | g.64616173A>C | CA371335953 | CYP7B1 | c.368T>G (p.Phe123Cys) c.434T>G (p.Phe145Cys) | |
8 | g.64616173A>G | CA371335950 | CYP7B1 | c.368T>C (p.Phe123Ser) c.434T>C (p.Phe145Ser) | |
8 | g.64616173A>T | CA371335948 | CYP7B1 | c.368T>A (p.Phe123Tyr) c.434T>A (p.Phe145Tyr) | |
8 | g.64616174A= | CA1789664485 | CYP7B1 | c.367T= (p.Phe123=) c.433T= (p.Phe145=) | |
8 | g.64616174A>C | CA371335957 | CYP7B1 | c.367T>G (p.Phe123Val) c.433T>G (p.Phe145Val) | dbSNP gnomAD v4 |
8 | g.64616174A>G | CA371335961 | CYP7B1 | c.367T>C (p.Phe123Leu) c.433T>C (p.Phe145Leu) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.64616174A>T | CA371335959 | CYP7B1 | c.367T>A (p.Phe123Ile) c.433T>A (p.Phe145Ile) | |
8 | g.64616175T>A | CA461422046 | CYP7B1 | c.366A>T (p.Ala122=) c.432A>T (p.Ala144=) | |
8 | g.64616175T>C | CA461422049 | CYP7B1 | c.366A>G (p.Ala122=) c.432A>G (p.Ala144=) | |
8 | g.64616175T>G | CA461422052 | CYP7B1 | c.366A>C (p.Ala122=) c.432A>C (p.Ala144=) | |
8 | g.64616176G>A | CA371335965 | CYP7B1 | c.365C>T (p.Ala122Val) c.431C>T (p.Ala144Val) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.64616176G>C | CA371335969 | CYP7B1 | c.365C>G (p.Ala122Gly) c.431C>G (p.Ala144Gly) | |
8 | g.64616176G= | CA1789664486 | CYP7B1 | c.365C= (p.Ala122=) c.431C= (p.Ala144=) | |
8 | g.64616176G>T | CA371335967 | CYP7B1 | c.365C>A (p.Ala122Glu) c.431C>A (p.Ala144Glu) | |
8 | g.64616177C>A | CA371335973 | CYP7B1 | c.364G>T (p.Ala122Ser) c.430G>T (p.Ala144Ser) | |
8 | g.64616177C= | CA1789664487 | CYP7B1 | c.364G= (p.Ala122=) c.430G= (p.Ala144=) | |
8 | g.64616177C>G | CA371335975 | CYP7B1 | c.364G>C (p.Ala122Pro) c.430G>C (p.Ala144Pro) | |
8 | g.64616177C>T | CA178389787 | CYP7B1 | c.364G>A (p.Ala122Thr) c.430G>A (p.Ala144Thr) | dbSNP gnomAD v4 |
8 | g.64616177dup | CA178389786 | CYP7B1 | c.364dup (p.Ala122GlyfsTer3) c.430dup (p.Ala144GlyfsTer3) | dbSNP |
8 | g.64616178T>A | CA371335979 | CYP7B1 | c.363A>T (p.Lys121Asn) c.429A>T (p.Lys143Asn) | |
8 | g.64616178T>C | CA461422067 | CYP7B1 | c.363A>G (p.Lys121=) c.429A>G (p.Lys143=) | |
8 | g.64616178T>G | CA371335981 | CYP7B1 | c.363A>C (p.Lys121Asn) c.429A>C (p.Lys143Asn) | |
8 | g.64616179T>A | CA371335987 | CYP7B1 | c.362A>T (p.Lys121Ile) c.428A>T (p.Lys143Ile) | |
8 | g.64616179T>C | CA371335984 | CYP7B1 | c.362A>G (p.Lys121Arg) c.428A>G (p.Lys143Arg) | |
8 | g.64616179T>G | CA371335986 | CYP7B1 | c.362A>C (p.Lys121Thr) c.428A>C (p.Lys143Thr) | |
8 | g.64616180T>A | CA371335990 | CYP7B1 | c.361A>T (p.Lys121Ter) c.427A>T (p.Lys143Ter) | |
8 | g.64616180T>C | CA371335992 | CYP7B1 | c.361A>G (p.Lys121Glu) c.427A>G (p.Lys143Glu) | |
8 | g.64616180T>G | CA371335994 | CYP7B1 | c.361A>C (p.Lys121Gln) c.427A>C (p.Lys143Gln) | |
8 | g.64616181C>A | CA371335997 | CYP7B1 | c.360G>T (p.Glu120Asp) c.426G>T (p.Glu142Asp) | COSMIC |
8 | g.64616181C= | CA1789664488 | CYP7B1 | c.360G= (p.Glu120=) c.426G= (p.Glu142=) | |
8 | g.64616181C>G | CA371336000 | CYP7B1 | c.360G>C (p.Glu120Asp) c.426G>C (p.Glu142Asp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.64616181C>T | CA461422078 | CYP7B1 | c.360G>A (p.Glu120=) c.426G>A (p.Glu142=) | gnomAD v4 |
8 | g.64616182T>A | CA371336003 | CYP7B1 | c.359A>T (p.Glu120Val) c.425A>T (p.Glu142Val) | |
8 | g.64616182T>C | CA371336008 | CYP7B1 | c.359A>G (p.Glu120Gly) c.425A>G (p.Glu142Gly) | |
8 | g.64616182T>G | CA371336006 | CYP7B1 | c.359A>C (p.Glu120Ala) c.425A>C (p.Glu142Ala) | ClinVar dbSNP gnomAD v4 |
8 | g.64616183C>A | CA371336010 | CYP7B1 | c.358G>T (p.Glu120Ter) c.424G>T (p.Glu142Ter) | |
8 | g.64616183C>G | CA371336012 | CYP7B1 | c.358G>C (p.Glu120Gln) c.424G>C (p.Glu142Gln) | |
8 | g.64616183C>T | CA371336014 | CYP7B1 | c.358G>A (p.Glu120Lys) c.424G>A (p.Glu142Lys) | |
8 | g.64616184T>A | CA371336017 | CYP7B1 | c.357A>T (p.Leu119Phe) c.423A>T (p.Leu141Phe) | |
8 | g.64616184T>C | CA461422090 | CYP7B1 | c.357A>G (p.Leu119=) c.423A>G (p.Leu141=) | |
8 | g.64616184T>G | CA371336019 | CYP7B1 | c.357A>C (p.Leu119Phe) c.423A>C (p.Leu141Phe) | |
8 | g.64616185A>C | CA371336022 | CYP7B1 | c.356T>G (p.Leu119Ter) c.422T>G (p.Leu141Ter) | |
8 | g.64616185A>G | CA371336024 | CYP7B1 | c.356T>C (p.Leu119Ser) c.422T>C (p.Leu141Ser) | |
8 | g.64616185A>T | CA371336026 | CYP7B1 | c.356T>A (p.Leu119Ter) c.422T>A (p.Leu141Ter) | |
8 | g.64616186A= | CA1789664489 | CYP7B1 | c.355T= (p.Leu119=) c.421T= (p.Leu141=) | |
8 | g.64616186A>C | CA371336028 | CYP7B1 | c.355T>G (p.Leu119Val) c.421T>G (p.Leu141Val) | |
8 | g.64616186A>G | CA4764222 | CYP7B1 | c.355T>C (p.Leu119=) c.421T>C (p.Leu141=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.64616186A>T | CA371336033 | CYP7B1 | c.355T>A (p.Leu119Ile) c.421T>A (p.Leu141Ile) | |
8 | g.64616187T>A | CA371336037 | CYP7B1 | c.354A>T (p.Leu118Phe) c.420A>T (p.Leu140Phe) | |
8 | g.64616187T>C | CA461422104 | CYP7B1 | c.354A>G (p.Leu118=) c.420A>G (p.Leu140=) | gnomAD v4 |
8 | g.64616187T>G | CA371336035 | CYP7B1 | c.354A>C (p.Leu118Phe) c.420A>C (p.Leu140Phe) | |
8 | g.64616188A>C | CA371336040 | CYP7B1 | c.353T>G (p.Leu118Ter) c.419T>G (p.Leu140Ter) | |
8 | g.64616188A>G | CA371336042 | CYP7B1 | c.353T>C (p.Leu118Ser) c.419T>C (p.Leu140Ser) | gnomAD v4 |
8 | g.64616188A>T | CA371336044 | CYP7B1 | c.353T>A (p.Leu118Ter) c.419T>A (p.Leu140Ter) | |
8 | g.64616189A>C | CA371336046 | CYP7B1 | c.352T>G (p.Leu118Val) c.418T>G (p.Leu140Val) | |
8 | g.64616189A>G | CA461422113 | CYP7B1 | c.352T>C (p.Leu118=) c.418T>C (p.Leu140=) | COSMIC |
8 | g.64616189A>T | CA371336048 | CYP7B1 | c.352T>A (p.Leu118Ile) c.418T>A (p.Leu140Ile) | |
8 | g.64616190T>A | CA371336051 | CYP7B1 | c.351A>T (p.Lys117Asn) c.417A>T (p.Lys139Asn) | |
8 | g.64616190T>C | CA461422120 | CYP7B1 | c.351A>G (p.Lys117=) c.417A>G (p.Lys139=) | |
8 | g.64616190T>G | CA371336053 | CYP7B1 | c.351A>C (p.Lys117Asn) c.417A>C (p.Lys139Asn) | |
8 | g.64616191T>A | CA371336055 | CYP7B1 | c.350A>T (p.Lys117Ile) c.416A>T (p.Lys139Ile) | |
8 | g.64616191T>C | CA371336057 | CYP7B1 | c.350A>G (p.Lys117Arg) c.416A>G (p.Lys139Arg) | |
8 | g.64616191T>G | CA4764223 | CYP7B1 | c.350A>C (p.Lys117Thr) c.416A>C (p.Lys139Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
8 | g.64616191T= | CA1789664490 | CYP7B1 | c.350A= (p.Lys117=) c.416A= (p.Lys139=) | |
8 | g.64616192T>A | CA371336062 | CYP7B1 | c.349A>T (p.Lys117Ter) c.415A>T (p.Lys139Ter) | |
8 | g.64616192T>C | CA4764224 | CYP7B1 | c.349A>G (p.Lys117Glu) c.415A>G (p.Lys139Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.64616192T>G | CA371336065 | CYP7B1 | c.349A>C (p.Lys117Gln) c.415A>C (p.Lys139Gln) | |
8 | g.64616192T= | CA1789664491 | CYP7B1 | c.349A= (p.Lys117=) c.415A= (p.Lys139=) | |
8 | g.64616193A= | CA1789664492 | CYP7B1 | c.348T= (p.Asn116=) c.414T= (p.Asn138=) | |
8 | g.64616193A>C | CA371336072 | CYP7B1 | c.348T>G (p.Asn116Lys) c.414T>G (p.Asn138Lys) | |
8 | g.64616193A>G | CA4764225 | CYP7B1 | c.348T>C (p.Asn116=) c.414T>C (p.Asn138=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.64616193A>T | CA371336068 | CYP7B1 | c.348T>A (p.Asn116Lys) c.414T>A (p.Asn138Lys) | |
8 | g.64616194T>A | CA371336075 | CYP7B1 | c.347A>T (p.Asn116Ile) c.413A>T (p.Asn138Ile) | |
8 | g.64616194T>C | CA371336078 | CYP7B1 | c.347A>G (p.Asn116Ser) c.413A>G (p.Asn138Ser) | |
8 | g.64616194T>G | CA371336080 | CYP7B1 | c.347A>C (p.Asn116Thr) c.413A>C (p.Asn138Thr) | |
8 | g.64616195T>A | CA371336084 | CYP7B1 | c.346A>T (p.Asn116Tyr) c.412A>T (p.Asn138Tyr) | |
8 | g.64616195T>C | CA371336086 | CYP7B1 | c.346A>G (p.Asn116Asp) c.412A>G (p.Asn138Asp) | gnomAD v4 |
8 | g.64616195T>G | CA371336088 | CYP7B1 | c.346A>C (p.Asn116His) c.412A>C (p.Asn138His) | |
8 | g.64616196A>C | CA461422144 | CYP7B1 | c.345T>G (p.Ser115=) c.411T>G (p.Ser137=) | |
8 | g.64616196A>G | CA461422145 | CYP7B1 | c.345T>C (p.Ser115=) c.411T>C (p.Ser137=) | |
8 | g.64616196A>T | CA461422147 | CYP7B1 | c.345T>A (p.Ser115=) c.411T>A (p.Ser137=) | |
8 | g.64616197G>A | CA4764226 | CYP7B1 | c.344C>T (p.Ser115Phe) c.410C>T (p.Ser137Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.64616197G>C | CA371336091 | CYP7B1 | c.344C>G (p.Ser115Cys) c.410C>G (p.Ser137Cys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
8 | g.64616197G= | CA1789664493 | CYP7B1 | c.344C= (p.Ser115=) c.410C= (p.Ser137=) | |
8 | g.64616197G>T | CA371336093 | CYP7B1 | c.344C>A (p.Ser115Tyr) c.410C>A (p.Ser137Tyr) | |
8 | g.64616198A>C | CA371336095 | CYP7B1 | c.343T>G (p.Ser115Ala) c.409T>G (p.Ser137Ala) | |
8 | g.64616198A>G | CA371336097 | CYP7B1 | c.343T>C (p.Ser115Pro) c.409T>C (p.Ser137Pro) | |
8 | g.64616198A>T | CA371336099 | CYP7B1 | c.343T>A (p.Ser115Thr) c.409T>A (p.Ser137Thr) | |
8 | g.64616198_64616199insG | CA2579176584 | CYP7B1 | c.342_343insC (p.Ser115LeufsTer2) c.408_409insC (p.Ser137LeufsTer2) | |
8 | g.64616199A>C | CA371336102 | CYP7B1 | c.342T>G (p.Phe114Leu) c.408T>G (p.Phe136Leu) | |
8 | g.64616199A>G | CA461422157 | CYP7B1 | c.342T>C (p.Phe114=) c.408T>C (p.Phe136=) | |
8 | g.64616199A>T | CA371336104 | CYP7B1 | c.342T>A (p.Phe114Leu) c.408T>A (p.Phe136Leu) | |
8 | g.64616200A>C | CA371336110 | CYP7B1 | c.341T>G (p.Phe114Cys) c.407T>G (p.Phe136Cys) | |
8 | g.64616200A>G | CA371336112 | CYP7B1 | c.341T>C (p.Phe114Ser) c.407T>C (p.Phe136Ser) | |
8 | g.64616200A>T | CA371336108 | CYP7B1 | c.341T>A (p.Phe114Tyr) c.407T>A (p.Phe136Tyr) | |
8 | g.64616201A>C | CA371336115 | CYP7B1 | c.340T>G (p.Phe114Val) c.406T>G (p.Phe136Val) | |
8 | g.64616201A>G | CA371336117 | CYP7B1 | c.340T>C (p.Phe114Leu) c.406T>C (p.Phe136Leu) | gnomAD v4 |
8 | g.64616201A>T | CA371336120 | CYP7B1 | c.340T>A (p.Phe114Ile) c.406T>A (p.Phe136Ile) | |
8 | g.64616202T>A | CA461422166 | CYP7B1 | c.339A>T (p.Val113=) c.405A>T (p.Val135=) | |
8 | g.64616202T>C | CA4764227 | CYP7B1 | c.339A>G (p.Val113=) c.405A>G (p.Val135=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
8 | g.64616202T>G | CA461422170 | CYP7B1 | c.339A>C (p.Val113=) c.405A>C (p.Val135=) | |
8 | g.64616202T= | CA1789664494 | CYP7B1 | c.339A= (p.Val113=) c.405A= (p.Val135=) | |
8 | g.64616203A>C | CA371336124 | CYP7B1 | c.338T>G (p.Val113Gly) c.404T>G (p.Val135Gly) | |
8 | g.64616203A>G | CA371336126 | CYP7B1 | c.338T>C (p.Val113Ala) c.404T>C (p.Val135Ala) | |
8 | g.64616203A>T | CA371336128 | CYP7B1 | c.338T>A (p.Val113Glu) c.404T>A (p.Val135Glu) | |
8 | g.64616203dup | CA2695209518 | CYP7B1 | c.338dup (p.Phe114IlefsTer3) c.404dup (p.Phe136IlefsTer3) | |
8 | g.64616204C>A | CA371336133 | CYP7B1 | c.337G>T (p.Val113Leu) c.403G>T (p.Val135Leu) | |
8 | g.64616204C= | CA1789664495 | CYP7B1 | c.337G= (p.Val113=) c.403G= (p.Val135=) | |
8 | g.64616204C>G | CA371336129 | CYP7B1 | c.337G>C (p.Val113Leu) c.403G>C (p.Val135Leu) | |
8 | g.64616204C>T | CA371336131 | CYP7B1 | c.337G>A (p.Val113Ile) c.403G>A (p.Val135Ile) | ClinVar dbSNP gnomAD v4 |
8 | g.64616205T>A | CA461422182 | CYP7B1 | c.336A>T (p.Arg112=) c.402A>T (p.Arg134=) | |
8 | g.64616205T>C | CA461422185 | CYP7B1 | c.336A>G (p.Arg112=) c.402A>G (p.Arg134=) | |
8 | g.64616205T>G | CA461422184 | CYP7B1 | c.336A>C (p.Arg112=) c.402A>C (p.Arg134=) | gnomAD v4 |
8 | g.64616206C>A | CA371336135 | CYP7B1 | c.335G>T (p.Arg112Leu) c.401G>T (p.Arg134Leu) | gnomAD v4 |
8 | g.64616206C= | CA1789664496 | CYP7B1 | c.335G= (p.Arg112=) c.401G= (p.Arg134=) | |
8 | g.64616206C>G | CA371336137 | CYP7B1 | c.335G>C (p.Arg112Pro) c.401G>C (p.Arg134Pro) | |
8 | g.64616206C>T | CA4764228 | CYP7B1 | c.335G>A (p.Arg112Gln) c.401G>A (p.Arg134Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.64616207G>A | CA350581 | CYP7B1 | c.334C>T (p.Arg112Ter) c.400C>T (p.Arg134Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
8 | g.64616207G>C | CA371336140 | CYP7B1 | c.334C>G (p.Arg112Gly) c.400C>G (p.Arg134Gly) | |
8 | g.64616207G= | CA1789664497 | CYP7B1 | c.334C= (p.Arg112=) c.400C= (p.Arg134=) | |
8 | g.64616207G>T | CA461422194 | CYP7B1 | c.334C>A (p.Arg112=) c.400C>A (p.Arg134=) | |
8 | g.64616207_64616208del | CA2687454667 | CYP7B1 | c.333_334del (p.Phe111LeufsTer5) c.399_400del (p.Phe133LeufsTer5) | ClinVar gnomAD v4 |
8 | g.64616208A= | CA1789664498 | CYP7B1 | c.333T= (p.Phe111=) c.399T= (p.Phe133=) | |
8 | g.64616208A>C | CA371336143 | CYP7B1 | c.333T>G (p.Phe111Leu) c.399T>G (p.Phe133Leu) | |
8 | g.64616208A>G | CA4764229 | CYP7B1 | c.333T>C (p.Phe111=) c.399T>C (p.Phe133=) | dbSNP ExAC |
8 | g.64616208A>T | CA371336145 | CYP7B1 | c.333T>A (p.Phe111Leu) c.399T>A (p.Phe133Leu) | |
8 | g.64616209A>C | CA371336147 | CYP7B1 | c.332T>G (p.Phe111Cys) c.398T>G (p.Phe133Cys) | |
8 | g.64616209A>G | CA371336149 | CYP7B1 | c.332T>C (p.Phe111Ser) c.398T>C (p.Phe133Ser) | gnomAD v4 |
8 | g.64616209A>T | CA371336151 | CYP7B1 | c.332T>A (p.Phe111Tyr) c.398T>A (p.Phe133Tyr) | |
8 | g.64616210A>C | CA371336153 | CYP7B1 | c.331T>G (p.Phe111Val) c.397T>G (p.Phe133Val) | |
8 | g.64616210A>G | CA371336155 | CYP7B1 | c.331T>C (p.Phe111Leu) c.397T>C (p.Phe133Leu) | |
8 | g.64616210A>T | CA371336157 | CYP7B1 | c.331T>A (p.Phe111Ile) c.397T>A (p.Phe133Ile) | |
8 | g.64616211G>A | CA4764230 | CYP7B1 | c.330C>T (p.Ser110=) c.396C>T (p.Ser132=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.64616211G>C | CA371336161 | CYP7B1 | c.330C>G (p.Ser110Arg) c.396C>G (p.Ser132Arg) | |
8 | g.64616211G= | CA1789664499 | CYP7B1 | c.330C= (p.Ser110=) c.396C= (p.Ser132=) | |
8 | g.64616211G>T | CA371336162 | CYP7B1 | c.330C>A (p.Ser110Arg) c.396C>A (p.Ser132Arg) | |
8 | g.64616212del | CA2687454668 | CYP7B1 | c.329del (p.Ser110ThrfsTer10) c.395del (p.Ser132ThrfsTer10) | gnomAD v4 |
8 | g.64616212C>A | CA371336165 | CYP7B1 | c.329G>T (p.Ser110Ile) c.395G>T (p.Ser132Ile) | gnomAD v4 |
8 | g.64616212C= | CA1789664500 | CYP7B1 | c.329G= (p.Ser110=) c.395G= (p.Ser132=) | |
8 | g.64616212C>G | CA371336167 | CYP7B1 | c.329G>C (p.Ser110Thr) c.395G>C (p.Ser132Thr) | |
8 | g.64616212C>T | CA178389799 | CYP7B1 | c.329G>A (p.Ser110Asn) c.395G>A (p.Ser132Asn) | dbSNP |
8 | g.64616213T>A | CA371336171 | CYP7B1 | c.328A>T (p.Ser110Cys) c.394A>T (p.Ser132Cys) | |
8 | g.64616213T>C | CA371336175 | CYP7B1 | c.328A>G (p.Ser110Gly) c.394A>G (p.Ser132Gly) | |
8 | g.64616213T>G | CA371336172 | CYP7B1 | c.328A>C (p.Ser110Arg) c.394A>C (p.Ser132Arg) | dbSNP |
8 | g.64616213T= | CA1789664501 | CYP7B1 | c.328A= (p.Ser110=) c.394A= (p.Ser132=) | |
8 | g.64616215_64616218del | CA2579176585 | CYP7B1 | c.325_328del (p.Leu109AlafsTer10) c.391_394del (p.Leu131AlafsTer10) | gnomAD v4 |
8 | g.64616214T>A | CA371336178 | CYP7B1 | c.327A>T (p.Leu109Phe) c.393A>T (p.Leu131Phe) | |
8 | g.64616214T>C | CA461422233 | CYP7B1 | c.327A>G (p.Leu109=) c.393A>G (p.Leu131=) | |
8 | g.64616214T>G | CA371336180 | CYP7B1 | c.327A>C (p.Leu109Phe) c.393A>C (p.Leu131Phe) | |
8 | g.64616215A>C | CA371336183 | CYP7B1 | c.326T>G (p.Leu109Ter) c.392T>G (p.Leu131Ter) | |
8 | g.64616215A>G | CA371336185 | CYP7B1 | c.326T>C (p.Leu109Ser) c.392T>C (p.Leu131Ser) | gnomAD v4 |
8 | g.64616215A>T | CA371336188 | CYP7B1 | c.326T>A (p.Leu109Ter) c.392T>A (p.Leu131Ter) | |
8 | g.64616216A>C | CA371336190 | CYP7B1 | c.325T>G (p.Leu109Val) c.391T>G (p.Leu131Val) | |
8 | g.64616216A>G | CA461422245 | CYP7B1 | c.325T>C (p.Leu109=) c.391T>C (p.Leu131=) | |
8 | g.64616216A>T | CA371336191 | CYP7B1 | c.325T>A (p.Leu109Ile) c.391T>A (p.Leu131Ile) | |
8 | g.64616216_64616220delinsATTGT | CA1789664502 | CYP7B1 | c.321_325delinsACAAT (p.Lys107=) c.387_391delinsACAAT (p.Lys129=) | |
8 | g.64616217T>A | CA371336198 | CYP7B1 | c.324A>T (p.Gln108His) c.390A>T (p.Gln130His) | |
8 | g.64616217T>C | CA461422247 | CYP7B1 | c.324A>G (p.Gln108=) c.390A>G (p.Gln130=) | |
8 | g.64616217T>G | CA371336204 | CYP7B1 | c.324A>C (p.Gln108His) c.390A>C (p.Gln130His) | |
8 | g.64616219_64616222del | CA4764231 | CYP7B1 | c.321_324del (p.Lys107AsnfsTer2) c.387_390del (p.Lys129AsnfsTer2) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.64616218T>A | CA371336206 | CYP7B1 | c.323A>T (p.Gln108Leu) c.389A>T (p.Gln130Leu) | gnomAD v4 |
8 | g.64616218T>C | CA371336208 | CYP7B1 | c.323A>G (p.Gln108Arg) c.389A>G (p.Gln130Arg) | gnomAD v4 |
8 | g.64616218T>G | CA371336210 | CYP7B1 | c.323A>C (p.Gln108Pro) c.389A>C (p.Gln130Pro) | |
8 | g.64616219G>A | CA371336213 | CYP7B1 | c.322C>T (p.Gln108Ter) c.388C>T (p.Gln130Ter) | dbSNP |
8 | g.64616219G>C | CA371336217 | CYP7B1 | c.322C>G (p.Gln108Glu) c.388C>G (p.Gln130Glu) | |
8 | g.64616219G= | CA1789664503 | CYP7B1 | c.322C= (p.Gln108=) c.388C= (p.Gln130=) | |
8 | g.64616219G>T | CA371336215 | CYP7B1 | c.322C>A (p.Gln108Lys) c.388C>A (p.Gln130Lys) | gnomAD v4 |
8 | g.64616220T>A | CA371336221 | CYP7B1 | c.321A>T (p.Lys107Asn) c.387A>T (p.Lys129Asn) | |
8 | g.64616220T>C | CA461422270 | CYP7B1 | c.321A>G (p.Lys107=) c.387A>G (p.Lys129=) | |
8 | g.64616220T>G | CA371336222 | CYP7B1 | c.321A>C (p.Lys107Asn) c.387A>C (p.Lys129Asn) |