UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.30307936_30311263del | CA658653869 | ClinVar | ||
| X | g.30308319_30308331del | CA2695232168 | NR0B1 | c.1035_1047del (p.Pro346GlyfsTer22) c.150_162del (p.Pro51GlyfsTer22) | |
| 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) | 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) | |
| X | g.30308400T>A | CA412547124 | NR0B1 | c.964A>T (p.Thr322Ser) c.79A>T (p.Thr27Ser) | |
| X | g.30308400T>C | CA412547122 | NR0B1 | c.964A>G (p.Thr322Ala) c.79A>G (p.Thr27Ala) | |
| X | g.30308400T>G | CA412547120 | NR0B1 | c.964A>C (p.Thr322Pro) c.79A>C (p.Thr27Pro) | |
| X | g.30308401G>A | CA515946098 | NR0B1 | c.963C>T (p.Leu321=) c.78C>T (p.Leu26=) | |
| X | g.30308401G>C | CA515946100 | NR0B1 | c.963C>G (p.Leu321=) c.78C>G (p.Leu26=) | |
| X | g.30308401G>T | CA515946102 | NR0B1 | c.963C>A (p.Leu321=) c.78C>A (p.Leu26=) | |
| X | g.30308402A>C | CA412547126 | NR0B1 | c.962T>G (p.Leu321Arg) c.77T>G (p.Leu26Arg) | |
| X | g.30308402A>G | CA412547128 | NR0B1 | c.962T>C (p.Leu321Pro) c.77T>C (p.Leu26Pro) | |
| X | g.30308402A>T | CA412547130 | NR0B1 | c.962T>A (p.Leu321His) c.77T>A (p.Leu26His) | |
| X | g.30308403G>A | CA412547133 | NR0B1 | c.961C>T (p.Leu321Phe) c.76C>T (p.Leu26Phe) | |
| X | g.30308403G>C | CA412547134 | NR0B1 | c.961C>G (p.Leu321Val) c.76C>G (p.Leu26Val) | gnomAD v4 |
| X | g.30308403G>T | CA412547136 | NR0B1 | c.961C>A (p.Leu321Ile) c.76C>A (p.Leu26Ile) | |
| X | g.30308404G>A | CA515946109 | NR0B1 | c.960C>T (p.Ile320=) c.75C>T (p.Ile25=) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.30308404G>C | CA412547139 | NR0B1 | c.960C>G (p.Ile320Met) c.75C>G (p.Ile25Met) | dbSNP |
| X | g.30308404G= | CA2422040437 | NR0B1 | c.960C= (p.Ile320=) c.75C= (p.Ile25=) | |
| X | g.30308404G>T | CA515946110 | NR0B1 | c.960C>A (p.Ile320=) c.75C>A (p.Ile25=) | |
| X | g.30308405A>C | CA412547142 | NR0B1 | c.959T>G (p.Ile320Ser) c.74T>G (p.Ile25Ser) | |
| X | g.30308405A>G | CA412547144 | NR0B1 | c.959T>C (p.Ile320Thr) c.74T>C (p.Ile25Thr) | |
| X | g.30308405A>T | CA412547146 | NR0B1 | c.959T>A (p.Ile320Asn) c.74T>A (p.Ile25Asn) | |
| X | g.30308405dup | CA2695232176 | NR0B1 | c.959dup (p.Leu321ProfsTer?) c.74dup (p.Leu26ProfsTer?) | |
| X | g.30308406T>A | CA412547149 | NR0B1 | c.958A>T (p.Ile320Phe) c.73A>T (p.Ile25Phe) | gnomAD v4 |
| X | g.30308406T>C | CA412547150 | NR0B1 | c.958A>G (p.Ile320Val) c.73A>G (p.Ile25Val) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.30308406T>G | CA412547153 | NR0B1 | c.958A>C (p.Ile320Leu) c.73A>C (p.Ile25Leu) | |
| X | g.30308406T= | CA2422040438 | NR0B1 | c.958A= (p.Ile320=) c.73A= (p.Ile25=) | |
| X | g.30308409_30308411del | CA2579577214 | NR0B1 | c.956_958del (p.Lys319del) c.71_73del (p.Lys24del) | gnomAD v4 |
| X | g.30308407C>A | CA412547156 | NR0B1 | c.957G>T (p.Lys319Asn) c.72G>T (p.Lys24Asn) | |
| X | g.30308407C= | CA2422040439 | NR0B1 | c.957G= (p.Lys319=) c.72G= (p.Lys24=) | |
| X | g.30308407C>G | CA412547157 | NR0B1 | c.957G>C (p.Lys319Asn) c.72G>C (p.Lys24Asn) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.30308407C>T | CA515946117 | NR0B1 | c.957G>A (p.Lys319=) c.72G>A (p.Lys24=) | |
| X | g.30308408T>A | CA412547160 | NR0B1 | c.956A>T (p.Lys319Met) c.71A>T (p.Lys24Met) | |
| X | g.30308408T>C | CA412547162 | NR0B1 | c.956A>G (p.Lys319Arg) c.71A>G (p.Lys24Arg) | |
| X | g.30308408T>G | CA412547164 | NR0B1 | c.956A>C (p.Lys319Thr) c.71A>C (p.Lys24Thr) | |
| X | g.30308409T>A | CA412547167 | NR0B1 | c.955A>T (p.Lys319Ter) c.70A>T (p.Lys24Ter) | |
| X | g.30308409T>C | CA412547170 | NR0B1 | c.955A>G (p.Lys319Glu) c.70A>G (p.Lys24Glu) | |
| X | g.30308409T>G | CA412547172 | NR0B1 | c.955A>C (p.Lys319Gln) c.70A>C (p.Lys24Gln) | |
| X | g.30308410C>A | CA327975915 | NR0B1 | c.954G>T (p.Gln318His) c.69G>T (p.Gln23His) | dbSNP gnomAD v4 |
| X | g.30308410C= | CA2422040440 | NR0B1 | c.954G= (p.Gln318=) c.69G= (p.Gln23=) | |
| X | g.30308410C>G | CA412547175 | NR0B1 | c.954G>C (p.Gln318His) c.69G>C (p.Gln23His) | |
| X | g.30308410C>T | CA515946120 | NR0B1 | c.954G>A (p.Gln318=) c.69G>A (p.Gln23=) | dbSNP COSMIC COSMIC |
| X | g.30308410_30308417del | CA2695232177 | NR0B1 | c.947_954del (p.Met316LysfsTer?) c.62_69del (p.Met21LysfsTer?) | |
| X | g.30308411T>A | CA412547177 | NR0B1 | c.953A>T (p.Gln318Leu) c.68A>T (p.Gln23Leu) | |
| X | g.30308411T>C | CA412547178 | NR0B1 | c.953A>G (p.Gln318Arg) c.68A>G (p.Gln23Arg) | gnomAD v4 |
| X | g.30308411T>G | CA412547180 | NR0B1 | c.953A>C (p.Gln318Pro) c.68A>C (p.Gln23Pro) | |
| X | g.30308412G>A | CA412547185 | NR0B1 | c.952C>T (p.Gln318Ter) c.67C>T (p.Gln23Ter) | ClinVar dbSNP |
| X | g.30308412G>C | CA412547183 | NR0B1 | c.952C>G (p.Gln318Glu) c.67C>G (p.Gln23Glu) | |
| X | g.30308412G= | CA2422040441 | NR0B1 | c.952C= (p.Gln318=) c.67C= (p.Gln23=) | |
| X | g.30308412G>T | CA412547182 | NR0B1 | c.952C>A (p.Gln318Lys) c.67C>A (p.Gln23Lys) | |
| X | g.30308412_30308413insGG | CA2693386444 | NR0B1 | c.952_953insCC (p.Gln318ProfsTer?) c.67_68insCC (p.Gln23ProfsTer?) | gnomAD v4 |
| X | g.30308413C>A | CA515946128 | NR0B1 | c.951G>T (p.Leu317=) c.66G>T (p.Leu22=) | |
| X | g.30308413C= | CA2422040442 | NR0B1 | c.951G= (p.Leu317=) c.66G= (p.Leu22=) | |
| X | g.30308413C>G | CA515946126 | NR0B1 | c.951G>C (p.Leu317=) c.66G>C (p.Leu22=) | |
| X | g.30308413C>T | CA515946125 | NR0B1 | c.951G>A (p.Leu317=) c.66G>A (p.Leu22=) | dbSNP |
| X | g.30308413_30308414insTCCGAGATCTGGGTGGGTG | CA2693386445 | NR0B1 | c.950_951insCACCCACCCAGATCTCGGA (p.Gln318ThrfsTer?) c.65_66insCACCCACCCAGATCTCGGA (p.Gln23ThrfsTer?) | gnomAD v4 |
| X | g.30308414A>C | CA412547186 | NR0B1 | c.950T>G (p.Leu317Arg) c.65T>G (p.Leu22Arg) | |
| X | g.30308414A>G | CA412547188 | NR0B1 | c.950T>C (p.Leu317Pro) c.65T>C (p.Leu22Pro) | |
| X | g.30308414A>T | CA412547187 | NR0B1 | c.950T>A (p.Leu317Gln) c.65T>A (p.Leu22Gln) | |
| X | g.30308414dup | CA2695232178 | NR0B1 | c.950dup (p.Gln318AlafsTer?) c.65dup (p.Gln23AlafsTer?) | |
| X | g.30308415G>A | CA515946130 | NR0B1 | c.949C>T (p.Leu317=) c.64C>T (p.Leu22=) | |
| X | g.30308415G>C | CA412547189 | NR0B1 | c.949C>G (p.Leu317Val) c.64C>G (p.Leu22Val) | |
| X | g.30308415G>T | CA412547190 | NR0B1 | c.949C>A (p.Leu317Met) c.64C>A (p.Leu22Met) | |
| X | g.30308416C>A | CA412547192 | NR0B1 | c.948G>T (p.Met316Ile) c.63G>T (p.Met21Ile) | dbSNP |
| X | g.30308416C= | CA2422040443 | NR0B1 | c.948G= (p.Met316=) c.63G= (p.Met21=) | |
| X | g.30308416C>G | CA412547194 | NR0B1 | c.948G>C (p.Met316Ile) c.63G>C (p.Met21Ile) | |
| X | g.30308416C>T | CA412547195 | NR0B1 | c.948G>A (p.Met316Ile) c.63G>A (p.Met21Ile) | dbSNP |
| X | g.30308417A>C | CA412547197 | NR0B1 | c.947T>G (p.Met316Arg) c.62T>G (p.Met21Arg) | |
| X | g.30308417A>G | CA412547199 | NR0B1 | c.947T>C (p.Met316Thr) c.62T>C (p.Met21Thr) | |
| X | g.30308417A>T | CA412547201 | NR0B1 | c.947T>A (p.Met316Lys) c.62T>A (p.Met21Lys) | |
| X | g.30308418T>A | CA412547202 | NR0B1 | c.946A>T (p.Met316Leu) c.61A>T (p.Met21Leu) | |
| X | g.30308418T>C | CA412547204 | NR0B1 | c.946A>G (p.Met316Val) c.61A>G (p.Met21Val) | gnomAD v4 |
| X | g.30308418T>G | CA412547207 | NR0B1 | c.946A>C (p.Met316Leu) c.61A>C (p.Met21Leu) | |
| X | g.30308419G>A | CA515946132 | NR0B1 | c.945C>T (p.Ser315=) c.60C>T (p.Ser20=) | dbSNP |
| X | g.30308419G>C | CA412547211 | NR0B1 | c.945C>G (p.Ser315Arg) c.60C>G (p.Ser20Arg) | |
| X | g.30308419G= | CA2422040444 | NR0B1 | c.945C= (p.Ser315=) c.60C= (p.Ser20=) | |
| X | g.30308419G>T | CA412547209 | NR0B1 | c.945C>A (p.Ser315Arg) c.60C>A (p.Ser20Arg) | |
| X | g.30308420C>A | CA412547213 | NR0B1 | c.944G>T (p.Ser315Ile) c.59G>T (p.Ser20Ile) | |
| X | g.30308420C= | CA2422040445 | NR0B1 | c.944G= (p.Ser315=) c.59G= (p.Ser20=) | |
| X | g.30308420C>G | CA412547214 | NR0B1 | c.944G>C (p.Ser315Thr) c.59G>C (p.Ser20Thr) | |
| X | g.30308420C>T | CA412547217 | NR0B1 | c.944G>A (p.Ser315Asn) c.59G>A (p.Ser20Asn) | dbSNP |
| X | g.30308421T>A | CA412547220 | NR0B1 | c.943A>T (p.Ser315Cys) c.58A>T (p.Ser20Cys) | |
| X | g.30308421T>C | CA412547221 | NR0B1 | c.943A>G (p.Ser315Gly) c.58A>G (p.Ser20Gly) | gnomAD v4 |
| X | g.30308421T>G | CA412547222 | NR0B1 | c.943A>C (p.Ser315Arg) c.58A>C (p.Ser20Arg) | |
| X | g.30308421_30308422dup | CA2695232179 | NR0B1 | c.942_943dup (p.Ser315ThrfsTer?) c.57_58dup (p.Ser20ThrfsTer?) | |
| X | g.30308422G>A | CA515946139 | NR0B1 | c.942C>T (p.Pro314=) c.57C>T (p.Pro19=) | |
| X | g.30308422G>C | CA515946140 | NR0B1 | c.942C>G (p.Pro314=) c.57C>G (p.Pro19=) | |
| X | g.30308422G>T | CA515946141 | NR0B1 | c.942C>A (p.Pro314=) c.57C>A (p.Pro19=) | |
| X | g.30308423G>A | CA412547225 | NR0B1 | c.941C>T (p.Pro314Leu) c.56C>T (p.Pro19Leu) | |
| X | g.30308423G>C | CA412547227 | NR0B1 | c.941C>G (p.Pro314Arg) c.56C>G (p.Pro19Arg) | |
| X | g.30308423G>T | CA412547229 | NR0B1 | c.941C>A (p.Pro314His) c.56C>A (p.Pro19His) | |
| X | g.30308424G>A | CA412547231 | NR0B1 | c.940C>T (p.Pro314Ser) c.55C>T (p.Pro19Ser) | |
| X | g.30308424G>C | CA10376334 | NR0B1 | c.940C>G (p.Pro314Ala) c.55C>G (p.Pro19Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.30308424G= | CA2422040446 | NR0B1 | c.940C= (p.Pro314=) c.55C= (p.Pro19=) | |
| X | g.30308424G>T | CA412547232 | NR0B1 | c.940C>A (p.Pro314Thr) c.55C>A (p.Pro19Thr) | gnomAD v4 |
| X | g.30308425C>A | CA10376335 | NR0B1 | c.939G>T (p.Glu313Asp) c.54G>T (p.Glu18Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.30308425C= | CA2422040447 | NR0B1 | c.939G= (p.Glu313=) c.54G= (p.Glu18=) | |
| X | g.30308425C>G | CA327975933 | NR0B1 | c.939G>C (p.Glu313Asp) c.54G>C (p.Glu18Asp) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.30308425C>T | CA515946150 | NR0B1 | c.939G>A (p.Glu313=) c.54G>A (p.Glu18=) |