Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.30307936_30311263del | CA658653869 | ClinVar | ||
X | g.30308299G>A | CA10376313 | NR0B1 | c.1065C>T (p.Ala355=) c.180C>T (p.Ala60=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
X | g.30308299G>C | CA515717453 | NR0B1 | c.1065C>G (p.Ala355=) c.180C>G (p.Ala60=) | |
X | g.30308299G= | CA2422040391 | NR0B1 | c.1065C= (p.Ala355=) c.180C= (p.Ala60=) | |
X | g.30308299G>T | CA515717454 | NR0B1 | c.1065C>A (p.Ala355=) c.180C>A (p.Ala60=) | |
X | g.30308300G>A | CA412546685 | NR0B1 | c.1064C>T (p.Ala355Val) c.179C>T (p.Ala60Val) | |
X | g.30308300G>C | CA412546686 | NR0B1 | c.1064C>G (p.Ala355Gly) c.179C>G (p.Ala60Gly) | |
X | g.30308300G>T | CA412546687 | NR0B1 | c.1064C>A (p.Ala355Asp) c.179C>A (p.Ala60Asp) | |
X | g.30308301C>A | CA412546688 | NR0B1 | c.1063G>T (p.Ala355Ser) c.178G>T (p.Ala60Ser) | |
X | g.30308301C= | CA2422040392 | NR0B1 | c.1063G= (p.Ala355=) c.178G= (p.Ala60=) | |
X | g.30308301C>G | CA412546689 | NR0B1 | c.1063G>C (p.Ala355Pro) c.178G>C (p.Ala60Pro) | |
X | g.30308301C>T | CA10376314 | NR0B1 | c.1063G>A (p.Ala355Thr) c.178G>A (p.Ala60Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.30308302G>A | CA515717463 | NR0B1 | c.1062C>T (p.Ser354=) c.177C>T (p.Ser59=) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
X | g.30308302G>C | CA515717465 | NR0B1 | c.1062C>G (p.Ser354=) c.177C>G (p.Ser59=) | ClinVar |
X | g.30308302G= | CA2422040393 | NR0B1 | c.1062C= (p.Ser354=) c.177C= (p.Ser59=) | |
X | g.30308302G>T | CA10376315 | NR0B1 | c.1062C>A (p.Ser354=) c.177C>A (p.Ser59=) | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
X | g.30308303del | CA2695232166 | NR0B1 | c.1062del (p.Ala355ProfsTer17) c.177del (p.Ala60ProfsTer17) | |
X | g.30308303G>A | CA412546690 | NR0B1 | c.1061C>T (p.Ser354Phe) c.176C>T (p.Ser59Phe) | |
X | g.30308303G>C | CA412546691 | NR0B1 | c.1061C>G (p.Ser354Cys) c.176C>G (p.Ser59Cys) | gnomAD v4 |
X | g.30308303G>T | CA412546692 | NR0B1 | c.1061C>A (p.Ser354Tyr) c.176C>A (p.Ser59Tyr) | |
X | g.30308304A>C | CA412546695 | NR0B1 | c.1060T>G (p.Ser354Ala) c.175T>G (p.Ser59Ala) | |
X | g.30308304A>G | CA412546694 | NR0B1 | c.1060T>C (p.Ser354Pro) c.175T>C (p.Ser59Pro) | |
X | g.30308304A>T | CA412546693 | NR0B1 | c.1060T>A (p.Ser354Thr) c.175T>A (p.Ser59Thr) | |
X | g.30308305G>A | CA515945850 | NR0B1 | c.1059C>T (p.Pro353=) c.174C>T (p.Pro58=) | gnomAD v4 |
X | g.30308305G>C | CA515945852 | NR0B1 | c.1059C>G (p.Pro353=) c.174C>G (p.Pro58=) | dbSNP gnomAD v2 gnomAD v4 |
X | g.30308305G= | CA2422040394 | NR0B1 | c.1059C= (p.Pro353=) c.174C= (p.Pro58=) | |
X | g.30308305G>T | CA515945853 | NR0B1 | c.1059C>A (p.Pro353=) c.174C>A (p.Pro58=) | |
X | g.30308306_30308307del | CA2695232167 | NR0B1 | c.1058_1059del (p.Pro353LeufsTer?) c.173_174del (p.Pro58LeufsTer?) | |
X | g.30308306G>A | CA412546696 | NR0B1 | c.1058C>T (p.Pro353Leu) c.173C>T (p.Pro58Leu) | |
X | g.30308306G>C | CA412546697 | NR0B1 | c.1058C>G (p.Pro353Arg) c.173C>G (p.Pro58Arg) | |
X | g.30308306G>T | CA412546698 | NR0B1 | c.1058C>A (p.Pro353His) c.173C>A (p.Pro58His) | gnomAD v4 |
X | g.30308307G>A | CA412546700 | NR0B1 | c.1057C>T (p.Pro353Ser) c.172C>T (p.Pro58Ser) | gnomAD v4 |
X | g.30308307G>C | CA412546701 | NR0B1 | c.1057C>G (p.Pro353Ala) c.172C>G (p.Pro58Ala) | |
X | g.30308307G>T | CA412546702 | NR0B1 | c.1057C>A (p.Pro353Thr) c.172C>A (p.Pro58Thr) | |
X | g.30308308C>A | CA515945859 | NR0B1 | c.1056G>T (p.Val352=) c.171G>T (p.Val57=) | |
X | g.30308308C>G | CA515945861 | NR0B1 | c.1056G>C (p.Val352=) c.171G>C (p.Val57=) | |
X | g.30308308C>T | CA515945863 | NR0B1 | c.1056G>A (p.Val352=) c.171G>A (p.Val57=) | gnomAD v4 |
X | g.30308309A>C | CA412546703 | NR0B1 | c.1055T>G (p.Val352Gly) c.170T>G (p.Val57Gly) | |
X | g.30308309A>G | CA412546704 | NR0B1 | c.1055T>C (p.Val352Ala) c.170T>C (p.Val57Ala) | |
X | g.30308309A>T | CA412546705 | NR0B1 | c.1055T>A (p.Val352Glu) c.170T>A (p.Val57Glu) | |
X | g.30308310C>A | CA412546706 | NR0B1 | c.1054G>T (p.Val352Leu) c.169G>T (p.Val57Leu) | |
X | g.30308310C>G | CA412546713 | NR0B1 | c.1054G>C (p.Val352Leu) c.169G>C (p.Val57Leu) | |
X | g.30308310C>T | CA412546716 | NR0B1 | c.1054G>A (p.Val352Met) c.169G>A (p.Val57Met) | |
X | g.30308311C>A | CA412546718 | NR0B1 | c.1053G>T (p.Lys351Asn) c.168G>T (p.Lys56Asn) | |
X | g.30308311C>G | CA412546719 | NR0B1 | c.1053G>C (p.Lys351Asn) c.168G>C (p.Lys56Asn) | |
X | g.30308311C>T | CA515945871 | NR0B1 | c.1053G>A (p.Lys351=) c.168G>A (p.Lys56=) | gnomAD v4 |
X | g.30308312T>A | CA412546724 | NR0B1 | c.1052A>T (p.Lys351Met) c.167A>T (p.Lys56Met) | |
X | g.30308312T>C | CA412546726 | NR0B1 | c.1052A>G (p.Lys351Arg) c.167A>G (p.Lys56Arg) | |
X | g.30308312T>G | CA412546722 | NR0B1 | c.1052A>C (p.Lys351Thr) c.167A>C (p.Lys56Thr) | |
X | g.30308313T>A | CA412546728 | NR0B1 | c.1051A>T (p.Lys351Ter) c.166A>T (p.Lys56Ter) | |
X | g.30308313T>C | CA412546730 | NR0B1 | c.1051A>G (p.Lys351Glu) c.166A>G (p.Lys56Glu) | |
X | g.30308313T>G | CA412546731 | NR0B1 | c.1051A>C (p.Lys351Gln) c.166A>C (p.Lys56Gln) | |
X | g.30308314C>A | CA412546733 | NR0B1 | c.1050G>T (p.Arg350Ser) c.165G>T (p.Arg55Ser) | |
X | g.30308314C= | CA2422040395 | NR0B1 | c.1050G= (p.Arg350=) c.165G= (p.Arg55=) | |
X | g.30308314C>G | CA412546735 | NR0B1 | c.1050G>C (p.Arg350Ser) c.165G>C (p.Arg55Ser) | |
X | g.30308314C>T | CA515945876 | NR0B1 | c.1050G>A (p.Arg350=) c.165G>A (p.Arg55=) | dbSNP |
X | g.30308315C>A | CA412546737 | NR0B1 | c.1049G>T (p.Arg350Met) c.164G>T (p.Arg55Met) | |
X | g.30308315C>G | CA412546740 | NR0B1 | c.1049G>C (p.Arg350Thr) c.164G>C (p.Arg55Thr) | |
X | g.30308315C>T | CA412546741 | NR0B1 | c.1049G>A (p.Arg350Lys) c.164G>A (p.Arg55Lys) | |
X | g.30308315_30308316del | CA2548635674 | NR0B1 | c.1048_1049del (p.Arg350GlufsTer?) c.163_164del (p.Arg55GlufsTer?) | |
X | g.30308316T>A | CA412546743 | NR0B1 | c.1048A>T (p.Arg350Trp) c.163A>T (p.Arg55Trp) | |
X | g.30308316T>C | CA412546745 | NR0B1 | c.1048A>G (p.Arg350Gly) c.163A>G (p.Arg55Gly) | |
X | g.30308316T>G | CA515945878 | NR0B1 | c.1048A>C (p.Arg350=) c.163A>C (p.Arg55=) | |
X | g.30308317G>A | CA515945882 | NR0B1 | c.1047C>T (p.Ala349=) c.162C>T (p.Ala54=) | gnomAD v4 |
X | g.30308317G>C | CA515945881 | NR0B1 | c.1047C>G (p.Ala349=) c.162C>G (p.Ala54=) | |
X | g.30308317G>T | CA515945880 | NR0B1 | c.1047C>A (p.Ala349=) c.162C>A (p.Ala54=) | COSMIC COSMIC |
X | g.30308319_30308331del | CA2695232168 | NR0B1 | c.1035_1047del (p.Pro346GlyfsTer22) c.150_162del (p.Pro51GlyfsTer22) | |
X | g.30308318G>A | CA412546748 | NR0B1 | c.1046C>T (p.Ala349Val) c.161C>T (p.Ala54Val) | dbSNP gnomAD v4 |
X | g.30308318G>C | CA412546750 | NR0B1 | c.1046C>G (p.Ala349Gly) c.161C>G (p.Ala54Gly) | |
X | g.30308318G= | CA2422040396 | NR0B1 | c.1046C= (p.Ala349=) c.161C= (p.Ala54=) | |
X | g.30308318G>T | CA412546751 | NR0B1 | c.1046C>A (p.Ala349Asp) c.161C>A (p.Ala54Asp) | |
X | g.30308319C>A | CA412546757 | NR0B1 | c.1045G>T (p.Ala349Ser) c.160G>T (p.Ala54Ser) | gnomAD v4 |
X | g.30308319C>G | CA412546754 | NR0B1 | c.1045G>C (p.Ala349Pro) c.160G>C (p.Ala54Pro) | |
X | g.30308319C>T | CA412546756 | NR0B1 | c.1045G>A (p.Ala349Thr) c.160G>A (p.Ala54Thr) | |
X | g.30308320C>A | CA412546759 | NR0B1 | c.1044G>T (p.Glu348Asp) c.159G>T (p.Glu53Asp) | dbSNP |
X | g.30308320C= | CA2422040397 | NR0B1 | c.1044G= (p.Glu348=) c.159G= (p.Glu53=) | |
X | g.30308320C>G | CA412546768 | NR0B1 | c.1044G>C (p.Glu348Asp) c.159G>C (p.Glu53Asp) | |
X | g.30308320C>T | CA515945887 | NR0B1 | c.1044G>A (p.Glu348=) c.159G>A (p.Glu53=) | gnomAD v4 |
X | g.30308321T>A | CA412546771 | NR0B1 | c.1043A>T (p.Glu348Val) c.158A>T (p.Glu53Val) | |
X | g.30308321T>C | CA412546773 | NR0B1 | c.1043A>G (p.Glu348Gly) c.158A>G (p.Glu53Gly) | |
X | g.30308321T>G | CA412546774 | NR0B1 | c.1043A>C (p.Glu348Ala) c.158A>C (p.Glu53Ala) | |
X | g.30308321_30308322delinsTC | CA2422040398 | NR0B1 | c.1042_1043delinsGA (p.Glu348=) c.157_158delinsGA (p.Glu53=) | |
X | g.30308322C>A | CA412546780 | NR0B1 | c.1042G>T (p.Glu348Ter) c.157G>T (p.Glu53Ter) | |
X | g.30308322C>G | CA412546782 | NR0B1 | c.1042G>C (p.Glu348Gln) c.157G>C (p.Glu53Gln) | |
X | g.30308322C>T | CA412546784 | NR0B1 | c.1042G>A (p.Glu348Lys) c.157G>A (p.Glu53Lys) | |
X | g.30308323del | CA916083874 | NR0B1 | c.1042del (p.Glu348ArgfsTer24) c.157del (p.Glu53ArgfsTer24) | ClinVar dbSNP |
X | g.30308323C>A | CA515945893 | NR0B1 | c.1041G>T (p.Ala347=) c.156G>T (p.Ala52=) | |
X | g.30308323C>G | CA515945896 | NR0B1 | c.1041G>C (p.Ala347=) c.156G>C (p.Ala52=) | |
X | g.30308323C>T | CA515945895 | NR0B1 | c.1041G>A (p.Ala347=) c.156G>A (p.Ala52=) | |
X | g.30308324G>A | CA412546787 | NR0B1 | c.1040C>T (p.Ala347Val) c.155C>T (p.Ala52Val) | |
X | g.30308324G>C | CA327975849 | NR0B1 | c.1040C>G (p.Ala347Gly) c.155C>G (p.Ala52Gly) | dbSNP |
X | g.30308324G= | CA2422040399 | NR0B1 | c.1040C= (p.Ala347=) c.155C= (p.Ala52=) | |
X | g.30308324G>T | CA10376316 | NR0B1 | c.1040C>A (p.Ala347Glu) c.155C>A (p.Ala52Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.30308325C>A | CA412546790 | NR0B1 | c.1039G>T (p.Ala347Ser) c.154G>T (p.Ala52Ser) | |
X | g.30308325C= | CA2422040400 | NR0B1 | c.1039G= (p.Ala347=) c.154G= (p.Ala52=) | |
X | g.30308325C>G | CA412546793 | NR0B1 | c.1039G>C (p.Ala347Pro) c.154G>C (p.Ala52Pro) | dbSNP |
X | g.30308325C>T | CA412546792 | NR0B1 | c.1039G>A (p.Ala347Thr) c.154G>A (p.Ala52Thr) | |
X | g.30308326C>A | CA515945902 | NR0B1 | c.1038G>T (p.Pro346=) c.153G>T (p.Pro51=) | gnomAD v4 |
X | g.30308326C= | CA2422040401 | NR0B1 | c.1038G= (p.Pro346=) c.153G= (p.Pro51=) | |
X | g.30308326C>G | CA515945904 | NR0B1 | c.1038G>C (p.Pro346=) c.153G>C (p.Pro51=) | |
X | g.30308326C>T | CA515945905 | NR0B1 | c.1038G>A (p.Pro346=) c.153G>A (p.Pro51=) | dbSNP |
X | g.30308327G>A | CA412546796 | NR0B1 | c.1037C>T (p.Pro346Leu) c.152C>T (p.Pro51Leu) | dbSNP |
X | g.30308327G>C | CA412546800 | NR0B1 | c.1037C>G (p.Pro346Arg) c.152C>G (p.Pro51Arg) | |
X | g.30308327G= | CA2422040402 | NR0B1 | c.1037C= (p.Pro346=) c.152C= (p.Pro51=) | |
X | g.30308327G>T | CA412546797 | NR0B1 | c.1037C>A (p.Pro346Gln) c.152C>A (p.Pro51Gln) | |
X | g.30308328G>A | CA412546802 | NR0B1 | c.1036C>T (p.Pro346Ser) c.151C>T (p.Pro51Ser) | |
X | g.30308328G>C | CA412546804 | NR0B1 | c.1036C>G (p.Pro346Ala) c.151C>G (p.Pro51Ala) | |
X | g.30308328G>T | CA412546806 | NR0B1 | c.1036C>A (p.Pro346Thr) c.151C>A (p.Pro51Thr) | |
X | g.30308329C>A | CA515945909 | NR0B1 | c.1035G>T (p.Pro345=) c.150G>T (p.Pro50=) | |
X | g.30308329C= | CA2422040403 | NR0B1 | c.1035G= (p.Pro345=) c.150G= (p.Pro50=) | |
X | g.30308329C>G | CA515945910 | NR0B1 | c.1035G>C (p.Pro345=) c.150G>C (p.Pro50=) | |
X | g.30308329C>T | CA515945911 | NR0B1 | c.1035G>A (p.Pro345=) c.150G>A (p.Pro50=) | dbSNP COSMIC COSMIC |
X | g.30308330G>A | CA10376317 | NR0B1 | c.1034C>T (p.Pro345Leu) c.149C>T (p.Pro50Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.30308330G>C | CA412546809 | NR0B1 | c.1034C>G (p.Pro345Arg) c.149C>G (p.Pro50Arg) | |
X | g.30308330G= | CA2422040404 | NR0B1 | c.1034C= (p.Pro345=) c.149C= (p.Pro50=) | |
X | g.30308330G>T | CA412546811 | NR0B1 | c.1034C>A (p.Pro345Gln) c.149C>A (p.Pro50Gln) | dbSNP gnomAD v3 gnomAD v4 |
X | g.30308331del | CA2695232169 | NR0B1 | c.1034del (p.Pro345ArgfsTer27) c.149del (p.Pro50ArgfsTer27) | |
X | g.30308331G>A | CA412546812 | NR0B1 | c.1033C>T (p.Pro345Ser) c.148C>T (p.Pro50Ser) | |
X | g.30308331G>C | CA412546813 | NR0B1 | c.1033C>G (p.Pro345Ala) c.148C>G (p.Pro50Ala) | |
X | g.30308331G= | CA2422040405 | NR0B1 | c.1033C= (p.Pro345=) c.148C= (p.Pro50=) | |
X | g.30308331G>T | CA10376318 | NR0B1 | c.1033C>A (p.Pro345Thr) c.148C>A (p.Pro50Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.30308332T>A | CA515945916 | NR0B1 | c.1032A>T (p.Ala344=) c.147A>T (p.Ala49=) | |
X | g.30308332T>C | CA515945917 | NR0B1 | c.1032A>G (p.Ala344=) c.147A>G (p.Ala49=) | |
X | g.30308332T>G | CA10376319 | NR0B1 | c.1032A>C (p.Ala344=) c.147A>C (p.Ala49=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.30308332T= | CA2422040406 | NR0B1 | c.1032A= (p.Ala344=) c.147A= (p.Ala49=) | |
X | g.30308333G>A | CA412546818 | NR0B1 | c.1031C>T (p.Ala344Val) c.146C>T (p.Ala49Val) | |
X | g.30308333G>C | CA412546820 | NR0B1 | c.1031C>G (p.Ala344Gly) c.146C>G (p.Ala49Gly) | |
X | g.30308333G>T | CA412546822 | NR0B1 | c.1031C>A (p.Ala344Glu) c.146C>A (p.Ala49Glu) | |
X | g.30308334C>A | CA412546825 | NR0B1 | c.1030G>T (p.Ala344Ser) c.145G>T (p.Ala49Ser) | |
X | g.30308334C>G | CA412546829 | NR0B1 | c.1030G>C (p.Ala344Pro) c.145G>C (p.Ala49Pro) | |
X | g.30308334C>T | CA412546826 | NR0B1 | c.1030G>A (p.Ala344Thr) c.145G>A (p.Ala49Thr) | |
X | g.30308335C>A | CA412546832 | NR0B1 | c.1029G>T (p.Leu343Phe) c.144G>T (p.Leu48Phe) | |
X | g.30308335C= | CA2422040407 | NR0B1 | c.1029G= (p.Leu343=) c.144G= (p.Leu48=) | |
X | g.30308335C>G | CA412546834 | NR0B1 | c.1029G>C (p.Leu343Phe) c.144G>C (p.Leu48Phe) | |
X | g.30308335C>T | CA10376320 | NR0B1 | c.1029G>A (p.Leu343=) c.144G>A (p.Leu48=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.30308336A>C | CA412546837 | NR0B1 | c.1028T>G (p.Leu343Trp) c.143T>G (p.Leu48Trp) | |
X | g.30308336A>G | CA412546839 | NR0B1 | c.1028T>C (p.Leu343Ser) c.143T>C (p.Leu48Ser) | |
X | g.30308336A>T | CA412546840 | NR0B1 | c.1028T>A (p.Leu343Ter) c.143T>A (p.Leu48Ter) | |
X | g.30308337A>C | CA412546842 | NR0B1 | c.1027T>G (p.Leu343Val) c.142T>G (p.Leu48Val) | |
X | g.30308337A>G | CA515945922 | NR0B1 | c.1027T>C (p.Leu343=) c.142T>C (p.Leu48=) | |
X | g.30308337A>T | CA412546848 | NR0B1 | c.1027T>A (p.Leu343Met) c.142T>A (p.Leu48Met) | |
X | g.30308338A>C | CA412546852 | NR0B1 | c.1026T>G (p.His342Gln) c.141T>G (p.His47Gln) | |
X | g.30308338A>G | CA515945924 | NR0B1 | c.1026T>C (p.His342=) c.141T>C (p.His47=) | gnomAD v4 COSMIC COSMIC |
X | g.30308338A>T | CA412546854 | NR0B1 | c.1026T>A (p.His342Gln) c.141T>A (p.His47Gln) | |
X | g.30308339T>A | CA412546859 | NR0B1 | c.1025A>T (p.His342Leu) c.140A>T (p.His47Leu) | |
X | g.30308339T>C | CA412546858 | NR0B1 | c.1025A>G (p.His342Arg) c.140A>G (p.His47Arg) | |
X | g.30308339T>G | CA412546857 | NR0B1 | c.1025A>C (p.His342Pro) c.140A>C (p.His47Pro) | |
X | g.30308340G>A | CA412546869 | NR0B1 | c.1024C>T (p.His342Tyr) c.139C>T (p.His47Tyr) | |
X | g.30308340G>C | CA412546863 | NR0B1 | c.1024C>G (p.His342Asp) c.139C>G (p.His47Asp) | |
X | g.30308340G= | CA2422040408 | NR0B1 | c.1024C= (p.His342=) c.139C= (p.His47=) | |
X | g.30308340G>T | CA10376321 | NR0B1 | c.1024C>A (p.His342Asn) c.139C>A (p.His47Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.30308341G>A | CA515945930 | NR0B1 | c.1023C>T (p.His341=) c.138C>T (p.His46=) | ClinVar |
X | g.30308341G>C | CA412546872 | NR0B1 | c.1023C>G (p.His341Gln) c.138C>G (p.His46Gln) | |
X | g.30308341G= | CA2422040409 | NR0B1 | c.1023C= (p.His341=) c.138C= (p.His46=) | |
X | g.30308341G>T | CA412546874 | NR0B1 | c.1023C>A (p.His341Gln) c.138C>A (p.His46Gln) | dbSNP gnomAD v2 gnomAD v4 |
X | g.30308342T>A | CA10376322 | NR0B1 | c.1022A>T (p.His341Leu) c.137A>T (p.His46Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.30308342T>C | CA327975884 | NR0B1 | c.1022A>G (p.His341Arg) c.137A>G (p.His46Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.30308342T>G | CA412546877 | NR0B1 | c.1022A>C (p.His341Pro) c.137A>C (p.His46Pro) | |
X | g.30308342T= | CA2422040410 | NR0B1 | c.1022A= (p.His341=) c.137A= (p.His46=) | |
X | g.30308343G>A | CA412546878 | NR0B1 | c.1021C>T (p.His341Tyr) c.136C>T (p.His46Tyr) | |
X | g.30308343G>C | CA412546879 | NR0B1 | c.1021C>G (p.His341Asp) c.136C>G (p.His46Asp) | |
X | g.30308343G>T | CA412546880 | NR0B1 | c.1021C>A (p.His341Asn) c.136C>A (p.His46Asn) | |
X | g.30308344C>A | CA412546881 | NR0B1 | c.1020G>T (p.Gln340His) c.135G>T (p.Gln45His) | |
X | g.30308344C= | CA2422040411 | NR0B1 | c.1020G= (p.Gln340=) c.135G= (p.Gln45=) | |
X | g.30308344C>G | CA412546882 | NR0B1 | c.1020G>C (p.Gln340His) c.135G>C (p.Gln45His) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.30308344C>T | CA515945936 | NR0B1 | c.1020G>A (p.Gln340=) c.135G>A (p.Gln45=) | ClinVar gnomAD v4 |
X | g.30308345T>A | CA412546886 | NR0B1 | c.1019A>T (p.Gln340Leu) c.134A>T (p.Gln45Leu) | |
X | g.30308345T>C | CA412546888 | NR0B1 | c.1019A>G (p.Gln340Arg) c.134A>G (p.Gln45Arg) | |
X | g.30308345T>G | CA412546884 | NR0B1 | c.1019A>C (p.Gln340Pro) c.134A>C (p.Gln45Pro) | |
X | g.30308346G>A | CA412546890 | NR0B1 | c.1018C>T (p.Gln340Ter) c.133C>T (p.Gln45Ter) | |
X | g.30308346G>C | CA412546892 | NR0B1 | c.1018C>G (p.Gln340Glu) c.133C>G (p.Gln45Glu) | |
X | g.30308346G>T | CA412546899 | NR0B1 | c.1018C>A (p.Gln340Lys) c.133C>A (p.Gln45Lys) | |
X | g.30308347C>A | CA515945940 | NR0B1 | c.1017G>T (p.Leu339=) c.132G>T (p.Leu44=) | |
X | g.30308347C>G | CA515945942 | NR0B1 | c.1017G>C (p.Leu339=) c.132G>C (p.Leu44=) | |
X | g.30308347C>T | CA515945944 | NR0B1 | c.1017G>A (p.Leu339=) c.132G>A (p.Leu44=) | |
X | g.30308348A>C | CA412546902 | NR0B1 | c.1016T>G (p.Leu339Arg) c.131T>G (p.Leu44Arg) | gnomAD v4 |
X | g.30308348A>G | CA412546903 | NR0B1 | c.1016T>C (p.Leu339Pro) c.131T>C (p.Leu44Pro) | |
X | g.30308348A>T | CA412546905 | NR0B1 | c.1016T>A (p.Leu339Gln) c.131T>A (p.Leu44Gln) | |
X | g.30308349G>A | CA515945947 | NR0B1 | c.1015C>T (p.Leu339=) c.130C>T (p.Leu44=) | |
X | g.30308349G>C | CA412546908 | NR0B1 | c.1015C>G (p.Leu339Val) c.130C>G (p.Leu44Val) | |
X | g.30308349G>T | CA412546910 | NR0B1 | c.1015C>A (p.Leu339Met) c.130C>A (p.Leu44Met) | |
X | g.30308350C>A | CA515945948 | NR0B1 | c.1014G>T (p.Thr338=) c.129G>T (p.Thr43=) | gnomAD v3 gnomAD v4 |
X | g.30308350C= | CA2422040412 | NR0B1 | c.1014G= (p.Thr338=) c.129G= (p.Thr43=) | |
X | g.30308350C>G | CA515945950 | NR0B1 | c.1014G>C (p.Thr338=) c.129G>C (p.Thr43=) | |
X | g.30308350C>T | CA515945949 | NR0B1 | c.1014G>A (p.Thr338=) c.129G>A (p.Thr43=) | dbSNP |
X | g.30308351G>A | CA10376323 | NR0B1 | c.1013C>T (p.Thr338Met) c.128C>T (p.Thr43Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.30308351G>C | CA412546912 | NR0B1 | c.1013C>G (p.Thr338Arg) c.128C>G (p.Thr43Arg) | |
X | g.30308351G= | CA2422040413 | NR0B1 | c.1013C= (p.Thr338=) c.128C= (p.Thr43=) | |
X | g.30308351G>T | CA412546913 | NR0B1 | c.1013C>A (p.Thr338Lys) c.128C>A (p.Thr43Lys) | |
X | g.30308352T>A | CA412546915 | NR0B1 | c.1012A>T (p.Thr338Ser) c.127A>T (p.Thr43Ser) | |
X | g.30308352T>C | CA412546917 | NR0B1 | c.1012A>G (p.Thr338Ala) c.127A>G (p.Thr43Ala) | gnomAD v4 |
X | g.30308352T>G | CA412546919 | NR0B1 | c.1012A>C (p.Thr338Pro) c.127A>C (p.Thr43Pro) | |
X | g.30308353G>A | CA515945952 | NR0B1 | c.1011C>T (p.Pro337=) c.126C>T (p.Pro42=) | |
X | g.30308353G>C | CA515945953 | NR0B1 | c.1011C>G (p.Pro337=) c.126C>G (p.Pro42=) | gnomAD v4 |
X | g.30308353G>T | CA515945954 | NR0B1 | c.1011C>A (p.Pro337=) c.126C>A (p.Pro42=) | |
X | g.30308355del | CA2695232170 | NR0B1 | c.1011del (p.Thr338ArgfsTer?) c.126del (p.Thr43ArgfsTer?) | |
X | g.30308354G>A | CA412546923 | NR0B1 | c.1010C>T (p.Pro337Leu) c.125C>T (p.Pro42Leu) | |
X | g.30308354G>C | CA412546925 | NR0B1 | c.1010C>G (p.Pro337Arg) c.125C>G (p.Pro42Arg) | gnomAD v4 |
X | g.30308354G>T | CA412546921 | NR0B1 | c.1010C>A (p.Pro337His) c.125C>A (p.Pro42His) | |
X | g.30308355G>A | CA412546929 | NR0B1 | c.1009C>T (p.Pro337Ser) c.124C>T (p.Pro42Ser) | |
X | g.30308355G>C | CA412546933 | NR0B1 | c.1009C>G (p.Pro337Ala) c.124C>G (p.Pro42Ala) | |
X | g.30308355G>T | CA412546930 | NR0B1 | c.1009C>A (p.Pro337Thr) c.124C>A (p.Pro42Thr) | |
X | g.30308356C>A | CA515945958 | NR0B1 | c.1008G>T (p.Val336=) c.123G>T (p.Val41=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.30308356C= | CA2422040414 | NR0B1 | c.1008G= (p.Val336=) c.123G= (p.Val41=) | |
X | g.30308356C>G | CA515945960 | NR0B1 | c.1008G>C (p.Val336=) c.123G>C (p.Val41=) | |
X | g.30308356C>T | CA515945959 | NR0B1 | c.1008G>A (p.Val336=) c.123G>A (p.Val41=) | gnomAD v4 |
X | g.30308357A= | CA2422040415 | NR0B1 | c.1007T= (p.Val336=) c.122T= (p.Val41=) | |
X | g.30308357A>C | CA412546935 | NR0B1 | c.1007T>G (p.Val336Gly) c.122T>G (p.Val41Gly) | |
X | g.30308357A>G | CA412546937 | NR0B1 | c.1007T>C (p.Val336Ala) c.122T>C (p.Val41Ala) | |
X | g.30308357A>T | CA412546939 | NR0B1 | c.1007T>A (p.Val336Glu) c.122T>A (p.Val41Glu) | |
X | g.30308358C>A | CA412546941 | NR0B1 | c.1006G>T (p.Val336Leu) c.121G>T (p.Val41Leu) | |
X | g.30308358C>G | CA412546943 | NR0B1 | c.1006G>C (p.Val336Leu) c.121G>C (p.Val41Leu) | |
X | g.30308358C>T | CA412546944 | NR0B1 | c.1006G>A (p.Val336Met) c.121G>A (p.Val41Met) | |
X | g.30308358dup | CA1139667337 | NR0B1 | c.1006dup (p.Val336GlyfsTer?) c.121dup (p.Val41GlyfsTer?) | ClinVar dbSNP |
X | g.30308359G>A | CA515945966 | NR0B1 | c.1005C>T (p.Pro335=) c.120C>T (p.Pro40=) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
X | g.30308359G>C | CA515945967 | NR0B1 | c.1005C>G (p.Pro335=) c.120C>G (p.Pro40=) | |
X | g.30308359G= | CA2422040416 | NR0B1 | c.1005C= (p.Pro335=) c.120C= (p.Pro40=) | |
X | g.30308359G>T | CA515945970 | NR0B1 | c.1005C>A (p.Pro335=) c.120C>A (p.Pro40=) | gnomAD v4 |
X | g.30308361del | CA2739290472 | NR0B1 | c.1005del (p.Val336CysfsTer?) c.120del (p.Val41CysfsTer?) | |
X | g.30308360G>A | CA412546946 | NR0B1 | c.1004C>T (p.Pro335Leu) c.119C>T (p.Pro40Leu) | gnomAD v4 |
X | g.30308360G>C | CA412546948 | NR0B1 | c.1004C>G (p.Pro335Arg) c.119C>G (p.Pro40Arg) | |
X | g.30308360G= | CA2422040417 | NR0B1 | c.1004C= (p.Pro335=) c.119C= (p.Pro40=) | |
X | g.30308360G>T | CA10376324 | NR0B1 | c.1004C>A (p.Pro335His) c.119C>A (p.Pro40His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.30308361G>A | CA412546952 | NR0B1 | c.1003C>T (p.Pro335Ser) c.118C>T (p.Pro40Ser) | dbSNP gnomAD v2 |
X | g.30308361G>C | CA412546955 | NR0B1 | c.1003C>G (p.Pro335Ala) c.118C>G (p.Pro40Ala) | |
X | g.30308361G= | CA2422040418 | NR0B1 | c.1003C= (p.Pro335=) c.118C= (p.Pro40=) | |
X | g.30308361G>T | CA412546957 | NR0B1 | c.1003C>A (p.Pro335Thr) c.118C>A (p.Pro40Thr) | |
X | g.30308362C>A | CA515945973 | NR0B1 | c.1002G>T (p.Leu334=) c.117G>T (p.Leu39=) | |
X | g.30308362C= | CA2422040419 | NR0B1 | c.1002G= (p.Leu334=) c.117G= (p.Leu39=) | |
X | g.30308362C>G | CA515945975 | NR0B1 | c.1002G>C (p.Leu334=) c.117G>C (p.Leu39=) | |
X | g.30308362C>T | CA515945976 | NR0B1 | c.1002G>A (p.Leu334=) c.117G>A (p.Leu39=) | |
X | g.30308363A>C | CA412546963 | NR0B1 | c.1001T>G (p.Leu334Arg) c.116T>G (p.Leu39Arg) | |
X | g.30308363A>G | CA412546959 | NR0B1 | c.1001T>C (p.Leu334Pro) c.116T>C (p.Leu39Pro) | |
X | g.30308363A>T | CA412546961 | NR0B1 | c.1001T>A (p.Leu334Gln) c.116T>A (p.Leu39Gln) | |
X | g.30308363_30308366dup | CA1139667338 | NR0B1 | c.998_1001dup (p.Pro335ThrfsTer?) c.113_116dup (p.Pro40ThrfsTer?) | ClinVar dbSNP |
X | g.30308364G>A | CA515945978 | NR0B1 | c.1000C>T (p.Leu334=) c.115C>T (p.Leu39=) | |
X | g.30308364G>C | CA412546965 | NR0B1 | c.1000C>G (p.Leu334Val) c.115C>G (p.Leu39Val) | |
X | g.30308364G>T | CA412546967 | NR0B1 | c.1000C>A (p.Leu334Met) c.115C>A (p.Leu39Met) | |
X | g.30308365_30308366dup | CA2695232171 | NR0B1 | c.999_1000dup (p.Leu334HisfsTer?) c.114_115dup (p.Leu39HisfsTer?) | |
X | g.30308365T>A | CA515945983 | NR0B1 | c.999A>T (p.Pro333=) c.114A>T (p.Pro38=) | |
X | g.30308365T>C | CA515945981 | NR0B1 | c.999A>G (p.Pro333=) c.114A>G (p.Pro38=) | |
X | g.30308365T>G | CA515945982 | NR0B1 | c.999A>C (p.Pro333=) c.114A>C (p.Pro38=) | |
X | g.30308366G>A | CA412546970 | NR0B1 | c.998C>T (p.Pro333Leu) c.113C>T (p.Pro38Leu) | |
X | g.30308366G>C | CA412546971 | NR0B1 | c.998C>G (p.Pro333Arg) c.113C>G (p.Pro38Arg) | |
X | g.30308366G>T | CA412546974 | NR0B1 | c.998C>A (p.Pro333Gln) c.113C>A (p.Pro38Gln) | |
X | g.30308367G>A | CA412546976 | NR0B1 | c.997C>T (p.Pro333Ser) c.112C>T (p.Pro38Ser) | |
X | g.30308367G>C | CA412546978 | NR0B1 | c.997C>G (p.Pro333Ala) c.112C>G (p.Pro38Ala) | |
X | g.30308367G>T | CA412546979 | NR0B1 | c.997C>A (p.Pro333Thr) c.112C>A (p.Pro38Thr) | |
X | g.30308368C>A | CA412546980 | NR0B1 | c.996G>T (p.Glu332Asp) c.111G>T (p.Glu37Asp) | COSMIC COSMIC |
X | g.30308368C= | CA2422040420 | NR0B1 | c.996G= (p.Glu332=) c.111G= (p.Glu37=) | |
X | g.30308368C>G | CA412546982 | NR0B1 | c.996G>C (p.Glu332Asp) c.111G>C (p.Glu37Asp) | |
X | g.30308368C>T | CA515945993 | NR0B1 | c.996G>A (p.Glu332=) c.111G>A (p.Glu37=) | dbSNP gnomAD v4 |
X | g.30308369T>A | CA412546988 | NR0B1 | c.995A>T (p.Glu332Val) c.110A>T (p.Glu37Val) | |
X | g.30308369T>C | CA412546986 | NR0B1 | c.995A>G (p.Glu332Gly) c.110A>G (p.Glu37Gly) | |
X | g.30308369T>G | CA412546984 | NR0B1 | c.995A>C (p.Glu332Ala) c.110A>C (p.Glu37Ala) | |
X | g.30308370C>A | CA412546990 | NR0B1 | c.994G>T (p.Glu332Ter) c.109G>T (p.Glu37Ter) | |
X | g.30308370C= | CA2422040421 | NR0B1 | c.994G= (p.Glu332=) c.109G= (p.Glu37=) | |
X | g.30308370C>G | CA10376325 | NR0B1 | c.994G>C (p.Glu332Gln) c.109G>C (p.Glu37Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.30308370C>T | CA412546993 | NR0B1 | c.994G>A (p.Glu332Lys) c.109G>A (p.Glu37Lys) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
X | g.30308371del | CA2695232172 | NR0B1 | c.993del (p.Asn331LysfsTer?) c.108del (p.Asn36LysfsTer?) | |
X | g.30308371G>A | CA10376326 | NR0B1 | c.993C>T (p.Asn331=) c.108C>T (p.Asn36=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.30308371G>C | CA412546997 | NR0B1 | c.993C>G (p.Asn331Lys) c.108C>G (p.Asn36Lys) | gnomAD v4 |
X | g.30308371G= | CA2422040422 | NR0B1 | c.993C= (p.Asn331=) c.108C= (p.Asn36=) | |
X | g.30308371G>T | CA412546999 | NR0B1 | c.993C>A (p.Asn331Lys) c.108C>A (p.Asn36Lys) | |
X | g.30308372T>A | CA412547002 | NR0B1 | c.992A>T (p.Asn331Ile) c.107A>T (p.Asn36Ile) | |
X | g.30308372T>C | CA412547004 | NR0B1 | c.992A>G (p.Asn331Ser) c.107A>G (p.Asn36Ser) | |
X | g.30308372T>G | CA412547006 | NR0B1 | c.992A>C (p.Asn331Thr) c.107A>C (p.Asn36Thr) | |
X | g.30308373T>A | CA412547008 | NR0B1 | c.991A>T (p.Asn331Tyr) c.106A>T (p.Asn36Tyr) | |
X | g.30308373T>C | CA412547010 | NR0B1 | c.991A>G (p.Asn331Asp) c.106A>G (p.Asn36Asp) | |
X | g.30308373T>G | CA412547012 | NR0B1 | c.991A>C (p.Asn331His) c.106A>C (p.Asn36His) | |
X | g.30308374G>A | CA515946007 | NR0B1 | c.990C>T (p.Gly330=) c.105C>T (p.Gly35=) | |
X | g.30308374G>C | CA515946009 | NR0B1 | c.990C>G (p.Gly330=) c.105C>G (p.Gly35=) | |
X | g.30308374G>T | CA515946010 | NR0B1 | c.990C>A (p.Gly330=) c.105C>A (p.Gly35=) | |
X | g.30308374_30308375delinsGC | CA2422040423 | NR0B1 | c.989_990delinsGC (p.Gly330=) c.104_105delinsGC (p.Gly35=) | |
X | g.30308375C>A | CA412547016 | NR0B1 | c.989G>T (p.Gly330Val) c.104G>T (p.Gly35Val) | |
X | g.30308375C= | CA2422040424 | NR0B1 | c.989G= (p.Gly330=) c.104G= (p.Gly35=) | |
X | g.30308375C>G | CA412547015 | NR0B1 | c.989G>C (p.Gly330Ala) c.104G>C (p.Gly35Ala) | |
X | g.30308375C>T | CA412547014 | NR0B1 | c.989G>A (p.Gly330Asp) c.104G>A (p.Gly35Asp) | ClinVar dbSNP gnomAD v4 |
X | g.30308379dup | CA2695232173 | NR0B1 | c.989dup (p.Asn331GlnfsTer?) c.104dup (p.Asn36GlnfsTer?) | |
X | g.30308379del | CA874616083 | NR0B1 | c.989del (p.Gly330AlafsTer?) c.104del (p.Gly35AlafsTer?) | dbSNP gnomAD v3 gnomAD v4 |
X | g.30308376C>A | CA412547018 | NR0B1 | c.988G>T (p.Gly330Cys) c.103G>T (p.Gly35Cys) | |
X | g.30308376C>G | CA412547020 | NR0B1 | c.988G>C (p.Gly330Arg) c.103G>C (p.Gly35Arg) | |
X | g.30308376C>T | CA412547022 | NR0B1 | c.988G>A (p.Gly330Ser) c.103G>A (p.Gly35Ser) | gnomAD v4 |
X | g.30308376_30308378delinsCCC | CA2422040425 | NR0B1 | c.986_988delinsGGG (p.Gly329=) c.101_103delinsGGG (p.Gly34=) | |
X | g.30308377C>A | CA515946016 | NR0B1 | c.987G>T (p.Gly329=) c.102G>T (p.Gly34=) | |
X | g.30308377C>G | CA515946018 | NR0B1 | c.987G>C (p.Gly329=) c.102G>C (p.Gly34=) | gnomAD v4 |
X | g.30308377C>T | CA515946019 | NR0B1 | c.987G>A (p.Gly329=) c.102G>A (p.Gly34=) | gnomAD v3 gnomAD v4 |
X | g.30308377_30308378delinsT | CA1139667339 | NR0B1 | c.986_987delinsA (p.Gly329GlufsTer?) c.101_102delinsA (p.Gly34GlufsTer?) | ClinVar dbSNP |
X | g.30308378C>A | CA412547025 | NR0B1 | c.986G>T (p.Gly329Val) c.101G>T (p.Gly34Val) | |
X | g.30308378C= | CA2422040426 | NR0B1 | c.986G= (p.Gly329=) c.101G= (p.Gly34=) | |
X | g.30308378C>G | CA412547027 | NR0B1 | c.986G>C (p.Gly329Ala) c.101G>C (p.Gly34Ala) | |
X | g.30308378C>T | CA412547029 | NR0B1 | c.986G>A (p.Gly329Glu) c.101G>A (p.Gly34Glu) | dbSNP gnomAD v3 gnomAD v4 |
X | g.30308379C>A | CA412547031 | NR0B1 | c.985G>T (p.Gly329Trp) c.100G>T (p.Gly34Trp) | gnomAD v4 |
X | g.30308379C= | CA2422040427 | NR0B1 | c.985G= (p.Gly329=) c.100G= (p.Gly34=) | |
X | g.30308379C>G | CA412547032 | NR0B1 | c.985G>C (p.Gly329Arg) c.100G>C (p.Gly34Arg) | |
X | g.30308379C>T | CA10376327 | NR0B1 | c.985G>A (p.Gly329Arg) c.100G>A (p.Gly34Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.30308380G>A | CA515946028 | NR0B1 | c.984C>T (p.Thr328=) c.99C>T (p.Thr33=) | gnomAD v4 |
X | g.30308380G>C | CA10376328 | NR0B1 | c.984C>G (p.Thr328=) c.99C>G (p.Thr33=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.30308380G= | CA2422040428 | NR0B1 | c.984C= (p.Thr328=) c.99C= (p.Thr33=) | |
X | g.30308380G>T | CA515946034 | NR0B1 | c.984C>A (p.Thr328=) c.99C>A (p.Thr33=) | |
X | g.30308381G>A | CA412547037 | NR0B1 | c.983C>T (p.Thr328Ile) c.98C>T (p.Thr33Ile) | |
X | g.30308381G>C | CA412547039 | NR0B1 | c.983C>G (p.Thr328Ser) c.98C>G (p.Thr33Ser) | |
X | g.30308381G= | CA2422040429 | NR0B1 | c.983C= (p.Thr328=) c.98C= (p.Thr33=) | |
X | g.30308381G>T | CA412547041 | NR0B1 | c.983C>A (p.Thr328Asn) c.98C>A (p.Thr33Asn) | dbSNP gnomAD v2 gnomAD v4 |
X | g.30308382T>A | CA412547048 | NR0B1 | c.982A>T (p.Thr328Ser) c.97A>T (p.Thr33Ser) | |
X | g.30308382T>C | CA412547046 | NR0B1 | c.982A>G (p.Thr328Ala) c.97A>G (p.Thr33Ala) | |
X | g.30308382T>G | CA412547044 | NR0B1 | c.982A>C (p.Thr328Pro) c.97A>C (p.Thr33Pro) | |
X | g.30308383C>A | CA412547051 | NR0B1 | c.981G>T (p.Glu327Asp) c.96G>T (p.Glu32Asp) | |
X | g.30308383C= | CA2422040430 | NR0B1 | c.981G= (p.Glu327=) c.96G= (p.Glu32=) | |
X | g.30308383C>G | CA10376329 | NR0B1 | c.981G>C (p.Glu327Asp) c.96G>C (p.Glu32Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.30308383C>T | CA515946039 | NR0B1 | c.981G>A (p.Glu327=) c.96G>A (p.Glu32=) | |
X | g.30308384T>A | CA412547055 | NR0B1 | c.980A>T (p.Glu327Val) c.95A>T (p.Glu32Val) | |
X | g.30308384T>C | CA412547059 | NR0B1 | c.980A>G (p.Glu327Gly) c.95A>G (p.Glu32Gly) | |
X | g.30308384T>G | CA412547057 | NR0B1 | c.980A>C (p.Glu327Ala) c.95A>C (p.Glu32Ala) | |
X | g.30308385C>A | CA412547061 | NR0B1 | c.979G>T (p.Glu327Ter) c.94G>T (p.Glu32Ter) | COSMIC COSMIC |
X | g.30308385C= | CA2422040431 | NR0B1 | c.979G= (p.Glu327=) c.94G= (p.Glu32=) | |
X | g.30308385C>G | CA412547064 | NR0B1 | c.979G>C (p.Glu327Gln) c.94G>C (p.Glu32Gln) | |
X | g.30308385C>T | CA10376330 | NR0B1 | c.979G>A (p.Glu327Lys) c.94G>A (p.Glu32Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.30308386C>A | CA515946046 | NR0B1 | c.978G>T (p.Arg326=) c.93G>T (p.Arg31=) | |
X | g.30308386C>G | CA515946044 | NR0B1 | c.978G>C (p.Arg326=) c.93G>C (p.Arg31=) | |
X | g.30308386C>T | CA515946045 | NR0B1 | c.978G>A (p.Arg326=) c.93G>A (p.Arg31=) | |
X | g.30308387C>A | CA412547067 | NR0B1 | c.977G>T (p.Arg326Leu) c.92G>T (p.Arg31Leu) | dbSNP |
X | g.30308387C= | CA2422040432 | NR0B1 | c.977G= (p.Arg326=) c.92G= (p.Arg31=) | |
X | g.30308387C>G | CA412547071 | NR0B1 | c.977G>C (p.Arg326Pro) c.92G>C (p.Arg31Pro) | |
X | g.30308387C>T | CA412547069 | NR0B1 | c.977G>A (p.Arg326Gln) c.92G>A (p.Arg31Gln) | dbSNP gnomAD v2 |
X | g.30308388G>A | CA412547074 | NR0B1 | c.976C>T (p.Arg326Trp) c.91C>T (p.Arg31Trp) | |
X | g.30308388G>C | CA412547076 | NR0B1 | c.976C>G (p.Arg326Gly) c.91C>G (p.Arg31Gly) | |
X | g.30308388G>T | CA515946056 | NR0B1 | c.976C>A (p.Arg326=) c.91C>A (p.Arg31=) | |
X | g.30308389C>A | CA515946060 | NR0B1 | c.975G>T (p.Arg325=) c.90G>T (p.Arg30=) | |
X | g.30308389C= | CA2422040433 | NR0B1 | c.975G= (p.Arg325=) c.90G= (p.Arg30=) | |
X | g.30308389C>G | CA515946061 | NR0B1 | c.975G>C (p.Arg325=) c.90G>C (p.Arg30=) | |
X | g.30308389C>T | CA515946062 | NR0B1 | c.975G>A (p.Arg325=) c.90G>A (p.Arg30=) | dbSNP gnomAD v2 gnomAD v4 |
X | g.30308390C>A | CA412547078 | NR0B1 | c.974G>T (p.Arg325Leu) c.89G>T (p.Arg30Leu) | |
X | g.30308390C>G | CA412547079 | NR0B1 | c.974G>C (p.Arg325Pro) c.89G>C (p.Arg30Pro) | |
X | g.30308390C>T | CA412547082 | NR0B1 | c.974G>A (p.Arg325Gln) c.89G>A (p.Arg30Gln) | |
X | g.30308391del | CA2695232174 | NR0B1 | c.973del (p.Arg325GlyfsTer?) c.88del (p.Arg30GlyfsTer?) | |
X | g.30308391G>A | CA10376331 | NR0B1 | c.973C>T (p.Arg325Trp) c.88C>T (p.Arg30Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.30308391G>C | CA412547085 | NR0B1 | c.973C>G (p.Arg325Gly) c.88C>G (p.Arg30Gly) | dbSNP |
X | g.30308391G= | CA2422040434 | NR0B1 | c.973C= (p.Arg325=) c.88C= (p.Arg30=) | |
X | g.30308391G>T | CA515946064 | NR0B1 | c.973C>A (p.Arg325=) c.88C>A (p.Arg30=) | |
X | g.30308392C>A | CA412547088 | NR0B1 | c.972G>T (p.Arg324Ser) c.87G>T (p.Arg29Ser) | |
X | g.30308392C>G | CA412547089 | NR0B1 | c.972G>C (p.Arg324Ser) c.87G>C (p.Arg29Ser) | |
X | g.30308392C>T | CA515946068 | NR0B1 | c.972G>A (p.Arg324=) c.87G>A (p.Arg29=) | |
X | g.30308393C>A | CA412547091 | NR0B1 | c.971G>T (p.Arg324Met) c.86G>T (p.Arg29Met) | |
X | g.30308393C>G | CA412547092 | NR0B1 | c.971G>C (p.Arg324Thr) c.86G>C (p.Arg29Thr) | |
X | g.30308393C>T | CA412547094 | NR0B1 | c.971G>A (p.Arg324Lys) c.86G>A (p.Arg29Lys) | |
X | g.30308394T>A | CA412547096 | NR0B1 | c.970A>T (p.Arg324Trp) c.85A>T (p.Arg29Trp) | |
X | g.30308394T>C | CA412547098 | NR0B1 | c.970A>G (p.Arg324Gly) c.85A>G (p.Arg29Gly) | |
X | g.30308394T>G | CA515946070 | NR0B1 | c.970A>C (p.Arg324=) c.85A>C (p.Arg29=) | |
X | g.30308399_30308401del | CA2693386443 | NR0B1 | c.968_970del (p.Thr323del) c.83_85del (p.Thr28del) | gnomAD v4 |
X | g.30308395G>A | CA10376332 | NR0B1 | c.969C>T (p.Thr323=) c.84C>T (p.Thr28=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.30308395G>C | CA515946077 | NR0B1 | c.969C>G (p.Thr323=) c.84C>G (p.Thr28=) | |
X | g.30308395G= | CA2422040435 | NR0B1 | c.969C= (p.Thr323=) c.84C= (p.Thr28=) | |
X | g.30308395G>T | CA515946079 | NR0B1 | c.969C>A (p.Thr323=) c.84C>A (p.Thr28=) | ClinVar |
X | g.30308396G>A | CA412547103 | NR0B1 | c.968C>T (p.Thr323Ile) c.83C>T (p.Thr28Ile) | |
X | g.30308396G>C | CA412547104 | NR0B1 | c.968C>G (p.Thr323Ser) c.83C>G (p.Thr28Ser) | |
X | g.30308396G>T | CA412547106 | NR0B1 | c.968C>A (p.Thr323Asn) c.83C>A (p.Thr28Asn) | |
X | g.30308397T>A | CA412547108 | NR0B1 | c.967A>T (p.Thr323Ser) c.82A>T (p.Thr28Ser) | |
X | g.30308397T>C | CA412547110 | NR0B1 | c.967A>G (p.Thr323Ala) c.82A>G (p.Thr28Ala) | |
X | g.30308397T>G | CA412547112 | NR0B1 | c.967A>C (p.Thr323Pro) c.82A>C (p.Thr28Pro) | |
X | g.30308398G>A | CA515946087 | NR0B1 | c.966C>T (p.Thr322=) c.81C>T (p.Thr27=) | ClinVar |
X | g.30308398G>C | CA515946088 | NR0B1 | c.966C>G (p.Thr322=) c.81C>G (p.Thr27=) | |
X | g.30308398G>T | CA515946090 | NR0B1 | c.966C>A (p.Thr322=) c.81C>A (p.Thr27=) | |
X | g.30308399_30308415del | CA2695232175 | NR0B1 | c.950_966del (p.Leu317HisfsTer?) c.65_81del (p.Leu22HisfsTer?) | |
X | g.30308399G>A | CA412547115 | NR0B1 | c.965C>T (p.Thr322Ile) c.80C>T (p.Thr27Ile) | |
X | g.30308399G>C | CA10376333 | NR0B1 | c.965C>G (p.Thr322Ser) c.80C>G (p.Thr27Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.30308399G= | CA2422040436 | NR0B1 | c.965C= (p.Thr322=) c.80C= (p.Thr27=) | |
X | g.30308399G>T | CA412547117 | NR0B1 | c.965C>A (p.Thr322Asn) c.80C>A (p.Thr27Asn) |