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 |
|---|---|---|---|---|---|
| 17 | g.61801272_61805677del | CA1139665793 | BRIP1 | c.411+2790_614del c.918+2790_1121del n.2659+2790_2862del c.918+2790_919-1973del (n.918+2790_919-1973del) c.411+2790_699del c.435+2790_638del c.375+2790_578del | ClinVar |
| 17 | g.61801349_61801368del | CA2740093898 | BRIP1 | c.523_542del (p.Gly175SerfsTer13) c.1030_1049del (p.Gly344SerfsTer13) n.2771_2790del c.919-2064_919-2045del (n.919-2064_919-2045del) c.608_627del (n.608_627del) c.547_566del (p.Gly183SerfsTer13) c.487_506del (p.Gly163SerfsTer13) | ClinVar |
| 17 | g.61801353A= | CA2269179582 | BRIP1 | c.533T= (p.Leu178=) c.1040T= (p.Leu347=) n.2781T= c.919-2054T= (n.919-2054T=) c.618T= (n.618T=) c.557T= (p.Leu186=) c.497T= (p.Leu166=) | |
| 17 | g.61801353A>C | CA400484055 | BRIP1 | c.533T>G (p.Leu178Arg) c.1040T>G (p.Leu347Arg) n.2781T>G c.919-2054T>G (n.919-2054T>G) c.618T>G (n.618T>G) c.557T>G (p.Leu186Arg) c.497T>G (p.Leu166Arg) | |
| 17 | g.61801353A>G | CA190582 | BRIP1 | c.533T>C (p.Leu178Pro) c.1040T>C (p.Leu347Pro) n.2781T>C c.919-2054T>C (n.919-2054T>C) c.618T>C (n.618T>C) c.557T>C (p.Leu186Pro) c.497T>C (p.Leu166Pro) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.61801353A>T | CA400484056 | BRIP1 | c.533T>A (p.Leu178Gln) c.1040T>A (p.Leu347Gln) n.2781T>A c.919-2054T>A (n.919-2054T>A) c.618T>A (n.618T>A) c.557T>A (p.Leu186Gln) c.497T>A (p.Leu166Gln) | dbSNP |
| 17 | g.61801353_61801354insCACA | CA2810068964 | BRIP1 | c.533_534insGTGT (p.Lys179CysfsTer17) c.1040_1041insGTGT (p.Lys348CysfsTer17) n.2781_2782insGTGT c.919-2054_919-2053insGTGT (n.919-2054_919-2053insGTGT) c.618_619insGTGT (n.618_619insGTGT) c.557_558insGTGT (p.Lys187CysfsTer17) c.497_498insGTGT (p.Lys167CysfsTer17) | |
| 17 | g.61801354del | CA2580613191 | BRIP1 | c.532del (p.Leu178Ter) c.1039del (p.Leu347Ter) n.2780del c.919-2055del (n.919-2055del) c.617del (n.617del) c.556del (p.Leu186Ter) c.496del (p.Leu166Ter) | ClinVar |
| 17 | g.61801354G>A | CA501151905 | BRIP1 | c.532C>T (p.Leu178=) c.1039C>T (p.Leu347=) n.2780C>T c.919-2055C>T (n.919-2055C>T) c.617C>T (n.617C>T) c.556C>T (p.Leu186=) c.496C>T (p.Leu166=) | ClinVar dbSNP |
| 17 | g.61801354G>C | CA400484057 | BRIP1 | c.532C>G (p.Leu178Val) c.1039C>G (p.Leu347Val) n.2780C>G c.919-2055C>G (n.919-2055C>G) c.617C>G (n.617C>G) c.556C>G (p.Leu186Val) c.496C>G (p.Leu166Val) | dbSNP |
| 17 | g.61801354G>T | CA400484058 | BRIP1 | c.532C>A (p.Leu178Ile) c.1039C>A (p.Leu347Ile) n.2780C>A c.919-2055C>A (n.919-2055C>A) c.617C>A (n.617C>A) c.556C>A (p.Leu186Ile) c.496C>A (p.Leu166Ile) | ClinVar |
| 17 | g.61801355T>A | CA400484059 | BRIP1 | c.531A>T (p.Lys177Asn) c.1038A>T (p.Lys346Asn) n.2779A>T c.919-2056A>T (n.919-2056A>T) c.616A>T (n.616A>T) c.555A>T (p.Lys185Asn) c.495A>T (p.Lys165Asn) | dbSNP |
| 17 | g.61801355T>C | CA501151906 | BRIP1 | c.531A>G (p.Lys177=) c.1038A>G (p.Lys346=) n.2779A>G c.919-2056A>G (n.919-2056A>G) c.616A>G (n.616A>G) c.555A>G (p.Lys185=) c.495A>G (p.Lys165=) | ClinVar dbSNP gnomAD v4 |
| 17 | g.61801355T>G | CA400484060 | BRIP1 | c.531A>C (p.Lys177Asn) c.1038A>C (p.Lys346Asn) n.2779A>C c.919-2056A>C (n.919-2056A>C) c.616A>C (n.616A>C) c.555A>C (p.Lys185Asn) c.495A>C (p.Lys165Asn) | |
| 17 | g.61801355T= | CA2269179583 | BRIP1 | c.531A= (p.Lys177=) c.1038A= (p.Lys346=) n.2779A= c.919-2056A= (n.919-2056A=) c.616A= (n.616A=) c.555A= (p.Lys185=) c.495A= (p.Lys165=) | |
| 17 | g.61801355_61801360del | CA2810068968 | BRIP1 | c.526_531del (p.Lys176_Lys177del) c.1033_1038del (p.Lys345_Lys346del) n.2774_2779del c.919-2061_919-2056del (n.919-2061_919-2056del) c.611_616del (n.611_616del) c.550_555del (p.Lys184_Lys185del) c.490_495del (p.Lys164_Lys165del) | |
| 17 | g.61801356T>A | CA400484061 | BRIP1 | c.530A>T (p.Lys177Ile) c.1037A>T (p.Lys346Ile) n.2778A>T c.919-2057A>T (n.919-2057A>T) c.615A>T (n.615A>T) c.554A>T (p.Lys185Ile) c.494A>T (p.Lys165Ile) | |
| 17 | g.61801356T>C | CA400484062 | BRIP1 | c.530A>G (p.Lys177Arg) c.1037A>G (p.Lys346Arg) n.2778A>G c.919-2057A>G (n.919-2057A>G) c.615A>G (n.615A>G) c.554A>G (p.Lys185Arg) c.494A>G (p.Lys165Arg) | dbSNP |
| 17 | g.61801356T>G | CA400484063 | BRIP1 | c.530A>C (p.Lys177Thr) c.1037A>C (p.Lys346Thr) n.2778A>C c.919-2057A>C (n.919-2057A>C) c.615A>C (n.615A>C) c.554A>C (p.Lys185Thr) c.494A>C (p.Lys165Thr) | |
| 17 | g.61801359_61801361del | CA2580613192 | BRIP1 | c.528_530del (p.Lys177del) c.1035_1037del (p.Lys346del) n.2776_2778del c.919-2059_919-2057del (n.919-2059_919-2057del) c.613_615del (n.613_615del) c.552_554del (p.Lys185del) c.492_494del (p.Lys165del) | ClinVar dbSNP |
| 17 | g.61801357T>A | CA400484066 | BRIP1 | c.529A>T (p.Lys177Ter) c.1036A>T (p.Lys346Ter) n.2777A>T c.919-2058A>T (n.919-2058A>T) c.614A>T (n.614A>T) c.553A>T (p.Lys185Ter) c.493A>T (p.Lys165Ter) | |
| 17 | g.61801357T>C | CA400484065 | BRIP1 | c.529A>G (p.Lys177Glu) c.1036A>G (p.Lys346Glu) n.2777A>G c.919-2058A>G (n.919-2058A>G) c.614A>G (n.614A>G) c.553A>G (p.Lys185Glu) c.493A>G (p.Lys165Glu) | ClinVar |
| 17 | g.61801357T>G | CA400484064 | BRIP1 | c.529A>C (p.Lys177Gln) c.1036A>C (p.Lys346Gln) n.2777A>C c.919-2058A>C (n.919-2058A>C) c.614A>C (n.614A>C) c.553A>C (p.Lys185Gln) c.493A>C (p.Lys165Gln) | |
| 17 | g.61801358C>A | CA400484067 | BRIP1 | c.528G>T (p.Lys176Asn) c.1035G>T (p.Lys345Asn) n.2776G>T c.919-2059G>T (n.919-2059G>T) c.613G>T (n.613G>T) c.552G>T (p.Lys184Asn) c.492G>T (p.Lys164Asn) | |
| 17 | g.61801358C>G | CA400484068 | BRIP1 | c.528G>C (p.Lys176Asn) c.1035G>C (p.Lys345Asn) n.2776G>C c.919-2059G>C (n.919-2059G>C) c.613G>C (n.613G>C) c.552G>C (p.Lys184Asn) c.492G>C (p.Lys164Asn) | ClinVar dbSNP |
| 17 | g.61801358C>T | CA501151909 | BRIP1 | c.528G>A (p.Lys176=) c.1035G>A (p.Lys345=) n.2776G>A c.919-2059G>A (n.919-2059G>A) c.613G>A (n.613G>A) c.552G>A (p.Lys184=) c.492G>A (p.Lys164=) | ClinVar dbSNP |
| 17 | g.61801359T>A | CA400484069 | BRIP1 | c.527A>T (p.Lys176Met) c.1034A>T (p.Lys345Met) n.2775A>T c.919-2060A>T (n.919-2060A>T) c.612A>T (n.612A>T) c.551A>T (p.Lys184Met) c.491A>T (p.Lys164Met) | dbSNP |
| 17 | g.61801359T>C | CA400484071 | BRIP1 | c.527A>G (p.Lys176Arg) c.1034A>G (p.Lys345Arg) n.2775A>G c.919-2060A>G (n.919-2060A>G) c.612A>G (n.612A>G) c.551A>G (p.Lys184Arg) c.491A>G (p.Lys164Arg) | ClinVar dbSNP |
| 17 | g.61801359T>G | CA400484070 | BRIP1 | c.527A>C (p.Lys176Thr) c.1034A>C (p.Lys345Thr) n.2775A>C c.919-2060A>C (n.919-2060A>C) c.612A>C (n.612A>C) c.551A>C (p.Lys184Thr) c.491A>C (p.Lys164Thr) | ClinVar dbSNP |
| 17 | g.61801359T= | CA2269179584 | BRIP1 | c.527A= (p.Lys176=) c.1034A= (p.Lys345=) n.2775A= c.919-2060A= (n.919-2060A=) c.612A= (n.612A=) c.551A= (p.Lys184=) c.491A= (p.Lys164=) | |
| 17 | g.61801360T>A | CA400484072 | BRIP1 | c.526A>T (p.Lys176Ter) c.1033A>T (p.Lys345Ter) n.2774A>T c.919-2061A>T (n.919-2061A>T) c.611A>T (n.611A>T) c.550A>T (p.Lys184Ter) c.490A>T (p.Lys164Ter) | |
| 17 | g.61801360T>C | CA400484074 | BRIP1 | c.526A>G (p.Lys176Glu) c.1033A>G (p.Lys345Glu) n.2774A>G c.919-2061A>G (n.919-2061A>G) c.611A>G (n.611A>G) c.550A>G (p.Lys184Glu) c.490A>G (p.Lys164Glu) | |
| 17 | g.61801360T>G | CA400484073 | BRIP1 | c.526A>C (p.Lys176Gln) c.1033A>C (p.Lys345Gln) n.2774A>C c.919-2061A>C (n.919-2061A>C) c.611A>C (n.611A>C) c.550A>C (p.Lys184Gln) c.490A>C (p.Lys164Gln) | |
| 17 | g.61801361C>A | CA501151914 | BRIP1 | c.525G>T (p.Gly175=) c.1032G>T (p.Gly344=) n.2773G>T c.919-2062G>T (n.919-2062G>T) c.610G>T (n.610G>T) c.549G>T (p.Gly183=) c.489G>T (p.Gly163=) | dbSNP |
| 17 | g.61801361C= | CA2269179585 | BRIP1 | c.525G= (p.Gly175=) c.1032G= (p.Gly344=) n.2773G= c.919-2062G= (n.919-2062G=) c.610G= (n.610G=) c.549G= (p.Gly183=) c.489G= (p.Gly163=) | |
| 17 | g.61801361C>G | CA501151916 | BRIP1 | c.525G>C (p.Gly175=) c.1032G>C (p.Gly344=) n.2773G>C c.919-2062G>C (n.919-2062G>C) c.610G>C (n.610G>C) c.549G>C (p.Gly183=) c.489G>C (p.Gly163=) | dbSNP |
| 17 | g.61801361C>T | CA501151918 | BRIP1 | c.525G>A (p.Gly175=) c.1032G>A (p.Gly344=) n.2773G>A c.919-2062G>A (n.919-2062G>A) c.610G>A (n.610G>A) c.549G>A (p.Gly183=) c.489G>A (p.Gly163=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.61801364del | CA645583909 | BRIP1 | c.525del (p.Lys176ArgfsTer3) c.1032del (p.Lys345ArgfsTer3) n.2773del c.919-2062del (n.919-2062del) c.610del (n.610del) c.549del (p.Lys184ArgfsTer3) c.489del (p.Lys164ArgfsTer3) | dbSNP COSMIC COSMIC |
| 17 | g.61801362C>A | CA400484075 | BRIP1 | c.524G>T (p.Gly175Val) c.1031G>T (p.Gly344Val) n.2772G>T c.919-2063G>T (n.919-2063G>T) c.609G>T (n.609G>T) c.548G>T (p.Gly183Val) c.488G>T (p.Gly163Val) | dbSNP |
| 17 | g.61801362C= | CA2269179586 | BRIP1 | c.524G= (p.Gly175=) c.1031G= (p.Gly344=) n.2772G= c.919-2063G= (n.919-2063G=) c.609G= (n.609G=) c.548G= (p.Gly183=) c.488G= (p.Gly163=) | |
| 17 | g.61801362C>G | CA400484076 | BRIP1 | c.524G>C (p.Gly175Ala) c.1031G>C (p.Gly344Ala) n.2772G>C c.919-2063G>C (n.919-2063G>C) c.609G>C (n.609G>C) c.548G>C (p.Gly183Ala) c.488G>C (p.Gly163Ala) | dbSNP |
| 17 | g.61801362C>T | CA8690815 | BRIP1 | c.524G>A (p.Gly175Glu) c.1031G>A (p.Gly344Glu) n.2772G>A c.919-2063G>A (n.919-2063G>A) c.609G>A (n.609G>A) c.548G>A (p.Gly183Glu) c.488G>A (p.Gly163Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.61801370_61801394del | CA2825002580 | BRIP1 | c.500_524del (p.Asp167GlyfsTer4) c.1007_1031del (p.Asp336GlyfsTer4) n.2748_2772del c.919-2087_919-2063del (n.919-2087_919-2063del) c.585_609del (n.585_609del) c.524_548del (p.Asp175GlyfsTer4) c.464_488del (p.Asp155GlyfsTer4) | ClinVar |
| 17 | g.61801363C>A | CA400484077 | BRIP1 | c.523G>T (p.Gly175Trp) c.1030G>T (p.Gly344Trp) n.2771G>T c.919-2064G>T (n.919-2064G>T) c.608G>T (n.608G>T) c.547G>T (p.Gly183Trp) c.487G>T (p.Gly163Trp) | dbSNP |
| 17 | g.61801363C= | CA2269179587 | BRIP1 | c.523G= (p.Gly175=) c.1030G= (p.Gly344=) n.2771G= c.919-2064G= (n.919-2064G=) c.608G= (n.608G=) c.547G= (p.Gly183=) c.487G= (p.Gly163=) | |
| 17 | g.61801363C>G | CA400484078 | BRIP1 | c.523G>C (p.Gly175Arg) c.1030G>C (p.Gly344Arg) n.2771G>C c.919-2064G>C (n.919-2064G>C) c.608G>C (n.608G>C) c.547G>C (p.Gly183Arg) c.487G>C (p.Gly163Arg) | dbSNP |
| 17 | g.61801363C>T | CA400484079 | BRIP1 | c.523G>A (p.Gly175Arg) c.1030G>A (p.Gly344Arg) n.2771G>A c.919-2064G>A (n.919-2064G>A) c.608G>A (n.608G>A) c.547G>A (p.Gly183Arg) c.487G>A (p.Gly163Arg) | ClinVar dbSNP gnomAD v4 |
| 17 | g.61801364C>A | CA501151921 | BRIP1 | c.522G>T (p.Leu174=) c.1029G>T (p.Leu343=) n.2770G>T c.919-2065G>T (n.919-2065G>T) c.607G>T (n.607G>T) c.546G>T (p.Leu182=) c.486G>T (p.Leu162=) | dbSNP |
| 17 | g.61801364C>G | CA501151922 | BRIP1 | c.522G>C (p.Leu174=) c.1029G>C (p.Leu343=) n.2770G>C c.919-2065G>C (n.919-2065G>C) c.607G>C (n.607G>C) c.546G>C (p.Leu182=) c.486G>C (p.Leu162=) | dbSNP |
| 17 | g.61801364C>T | CA501151923 | BRIP1 | c.522G>A (p.Leu174=) c.1029G>A (p.Leu343=) n.2770G>A c.919-2065G>A (n.919-2065G>A) c.607G>A (n.607G>A) c.546G>A (p.Leu182=) c.486G>A (p.Leu162=) | dbSNP |
| 17 | g.61801365A= | CA2269179588 | BRIP1 | c.521T= (p.Leu174=) c.1028T= (p.Leu343=) n.2769T= c.919-2066T= (n.919-2066T=) c.606T= (n.606T=) c.545T= (p.Leu182=) c.485T= (p.Leu162=) | |
| 17 | g.61801365A>C | CA400484080 | BRIP1 | c.521T>G (p.Leu174Arg) c.1028T>G (p.Leu343Arg) n.2769T>G c.919-2066T>G (n.919-2066T>G) c.606T>G (n.606T>G) c.545T>G (p.Leu182Arg) c.485T>G (p.Leu162Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.61801365A>G | CA400484081 | BRIP1 | c.521T>C (p.Leu174Pro) c.1028T>C (p.Leu343Pro) n.2769T>C c.919-2066T>C (n.919-2066T>C) c.606T>C (n.606T>C) c.545T>C (p.Leu182Pro) c.485T>C (p.Leu162Pro) | ClinVar dbSNP |
| 17 | g.61801365A>T | CA400484082 | BRIP1 | c.521T>A (p.Leu174Gln) c.1028T>A (p.Leu343Gln) n.2769T>A c.919-2066T>A (n.919-2066T>A) c.606T>A (n.606T>A) c.545T>A (p.Leu182Gln) c.485T>A (p.Leu162Gln) | gnomAD v4 |
| 17 | g.61801366G>A | CA501151927 | BRIP1 | c.520C>T (p.Leu174=) c.1027C>T (p.Leu343=) n.2768C>T c.919-2067C>T (n.919-2067C>T) c.605C>T (n.605C>T) c.544C>T (p.Leu182=) c.484C>T (p.Leu162=) | dbSNP |
| 17 | g.61801366G>C | CA400484083 | BRIP1 | c.520C>G (p.Leu174Val) c.1027C>G (p.Leu343Val) n.2768C>G c.919-2067C>G (n.919-2067C>G) c.605C>G (n.605C>G) c.544C>G (p.Leu182Val) c.484C>G (p.Leu162Val) | dbSNP |
| 17 | g.61801366G= | CA2269179589 | BRIP1 | c.520C= (p.Leu174=) c.1027C= (p.Leu343=) n.2768C= c.919-2067C= (n.919-2067C=) c.605C= (n.605C=) c.544C= (p.Leu182=) c.484C= (p.Leu162=) | |
| 17 | g.61801366G>T | CA400484084 | BRIP1 | c.520C>A (p.Leu174Met) c.1027C>A (p.Leu343Met) n.2768C>A c.919-2067C>A (n.919-2067C>A) c.605C>A (n.605C>A) c.544C>A (p.Leu182Met) c.484C>A (p.Leu162Met) | dbSNP COSMIC COSMIC |
| 17 | g.61801366_61801367insAACTAATACAAGAT | CA2810068970 | BRIP1 | c.519_520insATCTTGTATTAGTT (p.Leu174IlefsTer4) c.1026_1027insATCTTGTATTAGTT (p.Leu343IlefsTer4) n.2767_2768insATCTTGTATTAGTT c.919-2068_919-2067insATCTTGTATTAGTT (n.919-2068_919-2067insATCTTGTATTAGTT) c.604_605insATCTTGTATTAGTT (n.604_605insATCTTGTATTAGTT) c.543_544insATCTTGTATTAGTT (p.Leu182IlefsTer4) c.483_484insATCTTGTATTAGTT (p.Leu162IlefsTer4) | |
| 17 | g.61801367G>A | CA501151931 | BRIP1 | c.519C>T (p.Ser173=) c.1026C>T (p.Ser342=) n.2767C>T c.919-2068C>T (n.919-2068C>T) c.604C>T (n.604C>T) c.543C>T (p.Ser181=) c.483C>T (p.Ser161=) | ClinVar dbSNP gnomAD v4 |
| 17 | g.61801367G>C | CA400484085 | BRIP1 | c.519C>G (p.Ser173Arg) c.1026C>G (p.Ser342Arg) n.2767C>G c.919-2068C>G (n.919-2068C>G) c.604C>G (n.604C>G) c.543C>G (p.Ser181Arg) c.483C>G (p.Ser161Arg) | dbSNP |
| 17 | g.61801367G= | CA2269179590 | BRIP1 | c.519C= (p.Ser173=) c.1026C= (p.Ser342=) n.2767C= c.919-2068C= (n.919-2068C=) c.604C= (n.604C=) c.543C= (p.Ser181=) c.483C= (p.Ser161=) | |
| 17 | g.61801367G>T | CA400484086 | BRIP1 | c.519C>A (p.Ser173Arg) c.1026C>A (p.Ser342Arg) n.2767C>A c.919-2068C>A (n.919-2068C>A) c.604C>A (n.604C>A) c.543C>A (p.Ser181Arg) c.483C>A (p.Ser161Arg) | dbSNP |
| 17 | g.61801368C>A | CA400484089 | BRIP1 | c.518G>T (p.Ser173Ile) c.1025G>T (p.Ser342Ile) n.2766G>T c.919-2069G>T (n.919-2069G>T) c.603G>T (n.603G>T) c.542G>T (p.Ser181Ile) c.482G>T (p.Ser161Ile) | dbSNP |
| 17 | g.61801368C>G | CA400484087 | BRIP1 | c.518G>C (p.Ser173Thr) c.1025G>C (p.Ser342Thr) n.2766G>C c.919-2069G>C (n.919-2069G>C) c.603G>C (n.603G>C) c.542G>C (p.Ser181Thr) c.482G>C (p.Ser161Thr) | ClinVar dbSNP |
| 17 | g.61801368C>T | CA400484088 | BRIP1 | c.518G>A (p.Ser173Asn) c.1025G>A (p.Ser342Asn) n.2766G>A c.919-2069G>A (n.919-2069G>A) c.603G>A (n.603G>A) c.542G>A (p.Ser181Asn) c.482G>A (p.Ser161Asn) | dbSNP |
| 17 | g.61801369T>A | CA400484090 | BRIP1 | c.517A>T (p.Ser173Cys) c.1024A>T (p.Ser342Cys) n.2765A>T c.919-2070A>T (n.919-2070A>T) c.602A>T (n.602A>T) c.541A>T (p.Ser181Cys) c.481A>T (p.Ser161Cys) | dbSNP |
| 17 | g.61801369T>C | CA400484091 | BRIP1 | c.517A>G (p.Ser173Gly) c.1024A>G (p.Ser342Gly) n.2765A>G c.919-2070A>G (n.919-2070A>G) c.602A>G (n.602A>G) c.541A>G (p.Ser181Gly) c.481A>G (p.Ser161Gly) | |
| 17 | g.61801369T>G | CA400484092 | BRIP1 | c.517A>C (p.Ser173Arg) c.1024A>C (p.Ser342Arg) n.2765A>C c.919-2070A>C (n.919-2070A>C) c.602A>C (n.602A>C) c.541A>C (p.Ser181Arg) c.481A>C (p.Ser161Arg) | ClinVar dbSNP |
| 17 | g.61801369T= | CA2269179591 | BRIP1 | c.517A= (p.Ser173=) c.1024A= (p.Ser342=) n.2765A= c.919-2070A= (n.919-2070A=) c.602A= (n.602A=) c.541A= (p.Ser181=) c.481A= (p.Ser161=) | |
| 17 | g.61801370G>A | CA292286099 | BRIP1 | c.516C>T (p.Val172=) c.1023C>T (p.Val341=) n.2764C>T c.919-2071C>T (n.919-2071C>T) c.601C>T (n.601C>T) c.540C>T (p.Val180=) c.480C>T (p.Val160=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.61801370G>C | CA501151933 | BRIP1 | c.516C>G (p.Val172=) c.1023C>G (p.Val341=) n.2764C>G c.919-2071C>G (n.919-2071C>G) c.601C>G (n.601C>G) c.540C>G (p.Val180=) c.480C>G (p.Val160=) | dbSNP |
| 17 | g.61801370G= | CA2269179592 | BRIP1 | c.516C= (p.Val172=) c.1023C= (p.Val341=) n.2764C= c.919-2071C= (n.919-2071C=) c.601C= (n.601C=) c.540C= (p.Val180=) c.480C= (p.Val160=) | |
| 17 | g.61801370G>T | CA501151934 | BRIP1 | c.516C>A (p.Val172=) c.1023C>A (p.Val341=) n.2764C>A c.919-2071C>A (n.919-2071C>A) c.601C>A (n.601C>A) c.540C>A (p.Val180=) c.480C>A (p.Val160=) | dbSNP |
| 17 | g.61801371A>C | CA400484093 | BRIP1 | c.515T>G (p.Val172Gly) c.1022T>G (p.Val341Gly) n.2763T>G c.919-2072T>G (n.919-2072T>G) c.600T>G (n.600T>G) c.539T>G (p.Val180Gly) c.479T>G (p.Val160Gly) | ClinVar dbSNP |
| 17 | g.61801371A>G | CA400484094 | BRIP1 | c.515T>C (p.Val172Ala) c.1022T>C (p.Val341Ala) n.2763T>C c.919-2072T>C (n.919-2072T>C) c.600T>C (n.600T>C) c.539T>C (p.Val180Ala) c.479T>C (p.Val160Ala) | |
| 17 | g.61801371A>T | CA400484095 | BRIP1 | c.515T>A (p.Val172Asp) c.1022T>A (p.Val341Asp) n.2763T>A c.919-2072T>A (n.919-2072T>A) c.600T>A (n.600T>A) c.539T>A (p.Val180Asp) c.479T>A (p.Val160Asp) | |
| 17 | g.61801372C>A | CA400484096 | BRIP1 | c.514G>T (p.Val172Phe) c.1021G>T (p.Val341Phe) n.2762G>T c.919-2073G>T (n.919-2073G>T) c.599G>T (n.599G>T) c.538G>T (p.Val180Phe) c.478G>T (p.Val160Phe) | dbSNP |
| 17 | g.61801372C= | CA2269179593 | BRIP1 | c.514G= (p.Val172=) c.1021G= (p.Val341=) n.2762G= c.919-2073G= (n.919-2073G=) c.599G= (n.599G=) c.538G= (p.Val180=) c.478G= (p.Val160=) | |
| 17 | g.61801372C>G | CA400484097 | BRIP1 | c.514G>C (p.Val172Leu) c.1021G>C (p.Val341Leu) n.2762G>C c.919-2073G>C (n.919-2073G>C) c.599G>C (n.599G>C) c.538G>C (p.Val180Leu) c.478G>C (p.Val160Leu) | dbSNP |
| 17 | g.61801372C>T | CA337093 | BRIP1 | c.514G>A (p.Val172Ile) c.1021G>A (p.Val341Ile) n.2762G>A c.919-2073G>A (n.919-2073G>A) c.599G>A (n.599G>A) c.538G>A (p.Val180Ile) c.478G>A (p.Val160Ile) | ClinVar dbSNP |
| 17 | g.61801373A>C | CA501151937 | BRIP1 | c.513T>G (p.Leu171=) c.1020T>G (p.Leu340=) n.2761T>G c.919-2074T>G (n.919-2074T>G) c.598T>G (n.598T>G) c.537T>G (p.Leu179=) c.477T>G (p.Leu159=) | |
| 17 | g.61801373A>G | CA501151938 | BRIP1 | c.513T>C (p.Leu171=) c.1020T>C (p.Leu340=) n.2761T>C c.919-2074T>C (n.919-2074T>C) c.598T>C (n.598T>C) c.537T>C (p.Leu179=) c.477T>C (p.Leu159=) | |
| 17 | g.61801373A>T | CA501151936 | BRIP1 | c.513T>A (p.Leu171=) c.1020T>A (p.Leu340=) n.2761T>A c.919-2074T>A (n.919-2074T>A) c.598T>A (n.598T>A) c.537T>A (p.Leu179=) c.477T>A (p.Leu159=) | |
| 17 | g.61801374A= | CA2269179594 | BRIP1 | c.512T= (p.Leu171=) c.1019T= (p.Leu340=) n.2760T= c.919-2075T= (n.919-2075T=) c.597T= (n.597T=) c.536T= (p.Leu179=) c.476T= (p.Leu159=) | |
| 17 | g.61801374A>C | CA400484098 | BRIP1 | c.512T>G (p.Leu171Arg) c.1019T>G (p.Leu340Arg) n.2760T>G c.919-2075T>G (n.919-2075T>G) c.597T>G (n.597T>G) c.536T>G (p.Leu179Arg) c.476T>G (p.Leu159Arg) | |
| 17 | g.61801374A>G | CA400484099 | BRIP1 | c.512T>C (p.Leu171Pro) c.1019T>C (p.Leu340Pro) n.2760T>C c.919-2075T>C (n.919-2075T>C) c.597T>C (n.597T>C) c.536T>C (p.Leu179Pro) c.476T>C (p.Leu159Pro) | ClinVar |
| 17 | g.61801374A>T | CA400484100 | BRIP1 | c.512T>A (p.Leu171His) c.1019T>A (p.Leu340His) n.2760T>A c.919-2075T>A (n.919-2075T>A) c.597T>A (n.597T>A) c.536T>A (p.Leu179His) c.476T>A (p.Leu159His) | dbSNP |
| 17 | g.61801374_61801375insAG | CA10583636 | BRIP1 | c.511_512insCT (p.Leu171ProfsTer9) c.1018_1019insCT (p.Leu340ProfsTer9) n.2759_2760insCT c.919-2076_919-2075insCT (n.919-2076_919-2075insCT) c.596_597insCT (n.596_597insCT) c.535_536insCT (p.Leu179ProfsTer9) c.475_476insCT (p.Leu159ProfsTer9) | ClinVar dbSNP gnomAD v4 |
| 17 | g.61801375G>A | CA8690816 | BRIP1 | c.511C>T (p.Leu171Phe) c.1018C>T (p.Leu340Phe) n.2759C>T c.919-2076C>T (n.919-2076C>T) c.596C>T (n.596C>T) c.535C>T (p.Leu179Phe) c.475C>T (p.Leu159Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.61801375G>C | CA400484102 | BRIP1 | c.511C>G (p.Leu171Val) c.1018C>G (p.Leu340Val) n.2759C>G c.919-2076C>G (n.919-2076C>G) c.596C>G (n.596C>G) c.535C>G (p.Leu179Val) c.475C>G (p.Leu159Val) | dbSNP |
| 17 | g.61801375G= | CA2269179595 | BRIP1 | c.511C= (p.Leu171=) c.1018C= (p.Leu340=) n.2759C= c.919-2076C= (n.919-2076C=) c.596C= (n.596C=) c.535C= (p.Leu179=) c.475C= (p.Leu159=) | |
| 17 | g.61801375G>T | CA400484101 | BRIP1 | c.511C>A (p.Leu171Ile) c.1018C>A (p.Leu340Ile) n.2759C>A c.919-2076C>A (n.919-2076C>A) c.596C>A (n.596C>A) c.535C>A (p.Leu179Ile) c.475C>A (p.Leu159Ile) | dbSNP |
| 17 | g.61801376T>A | CA400484104 | BRIP1 | c.510A>T (p.Glu170Asp) c.1017A>T (p.Glu339Asp) n.2758A>T c.919-2077A>T (n.919-2077A>T) c.595A>T (n.595A>T) c.534A>T (p.Glu178Asp) c.474A>T (p.Glu158Asp) | dbSNP |
| 17 | g.61801376T>C | CA501151940 | BRIP1 | c.510A>G (p.Glu170=) c.1017A>G (p.Glu339=) n.2758A>G c.919-2077A>G (n.919-2077A>G) c.595A>G (n.595A>G) c.534A>G (p.Glu178=) c.474A>G (p.Glu158=) | ClinVar |
| 17 | g.61801376T>G | CA400484103 | BRIP1 | c.510A>C (p.Glu170Asp) c.1017A>C (p.Glu339Asp) n.2758A>C c.919-2077A>C (n.919-2077A>C) c.595A>C (n.595A>C) c.534A>C (p.Glu178Asp) c.474A>C (p.Glu158Asp) | |
| 17 | g.61801377T>A | CA400484105 | BRIP1 | c.509A>T (p.Glu170Val) c.1016A>T (p.Glu339Val) n.2757A>T c.919-2078A>T (n.919-2078A>T) c.594A>T (n.594A>T) c.533A>T (p.Glu178Val) c.473A>T (p.Glu158Val) | dbSNP |
| 17 | g.61801377T>C | CA400484106 | BRIP1 | c.509A>G (p.Glu170Gly) c.1016A>G (p.Glu339Gly) n.2757A>G c.919-2078A>G (n.919-2078A>G) c.594A>G (n.594A>G) c.533A>G (p.Glu178Gly) c.473A>G (p.Glu158Gly) | |
| 17 | g.61801377T>G | CA400484107 | BRIP1 | c.509A>C (p.Glu170Ala) c.1016A>C (p.Glu339Ala) n.2757A>C c.919-2078A>C (n.919-2078A>C) c.594A>C (n.594A>C) c.533A>C (p.Glu178Ala) c.473A>C (p.Glu158Ala) | |
| 17 | g.61801378C>A | CA400484108 | BRIP1 | c.508G>T (p.Glu170Ter) c.1015G>T (p.Glu339Ter) n.2756G>T c.919-2079G>T (n.919-2079G>T) c.593G>T (n.593G>T) c.532G>T (p.Glu178Ter) c.472G>T (p.Glu158Ter) | ClinVar gnomAD v4 |
| 17 | g.61801378C>G | CA400484109 | BRIP1 | c.508G>C (p.Glu170Gln) c.1015G>C (p.Glu339Gln) n.2756G>C c.919-2079G>C (n.919-2079G>C) c.593G>C (n.593G>C) c.532G>C (p.Glu178Gln) c.472G>C (p.Glu158Gln) | ClinVar dbSNP |
| 17 | g.61801378C>T | CA400484110 | BRIP1 | c.508G>A (p.Glu170Lys) c.1015G>A (p.Glu339Lys) n.2756G>A c.919-2079G>A (n.919-2079G>A) c.593G>A (n.593G>A) c.532G>A (p.Glu178Lys) c.472G>A (p.Glu158Lys) | ClinVar dbSNP |
| 17 | g.61801379T>A | CA400484111 | BRIP1 | c.507A>T (p.Glu169Asp) c.1014A>T (p.Glu338Asp) n.2755A>T c.919-2080A>T (n.919-2080A>T) c.592A>T (n.592A>T) c.531A>T (p.Glu177Asp) c.471A>T (p.Glu157Asp) | |
| 17 | g.61801379T>C | CA501151947 | BRIP1 | c.507A>G (p.Glu169=) c.1014A>G (p.Glu338=) n.2755A>G c.919-2080A>G (n.919-2080A>G) c.592A>G (n.592A>G) c.531A>G (p.Glu177=) c.471A>G (p.Glu157=) | ClinVar dbSNP |
| 17 | g.61801379T>G | CA400484112 | BRIP1 | c.507A>C (p.Glu169Asp) c.1014A>C (p.Glu338Asp) n.2755A>C c.919-2080A>C (n.919-2080A>C) c.592A>C (n.592A>C) c.531A>C (p.Glu177Asp) c.471A>C (p.Glu157Asp) | ClinVar |
| 17 | g.61801379T= | CA2269179596 | BRIP1 | c.507A= (p.Glu169=) c.1014A= (p.Glu338=) n.2755A= c.919-2080A= (n.919-2080A=) c.592A= (n.592A=) c.531A= (p.Glu177=) c.471A= (p.Glu157=) | |
| 17 | g.61801380T>A | CA400484113 | BRIP1 | c.506A>T (p.Glu169Val) c.1013A>T (p.Glu338Val) n.2754A>T c.919-2081A>T (n.919-2081A>T) c.591A>T (n.591A>T) c.530A>T (p.Glu177Val) c.470A>T (p.Glu157Val) | dbSNP |
| 17 | g.61801380T>C | CA400484114 | BRIP1 | c.506A>G (p.Glu169Gly) c.1013A>G (p.Glu338Gly) n.2754A>G c.919-2081A>G (n.919-2081A>G) c.591A>G (n.591A>G) c.530A>G (p.Glu177Gly) c.470A>G (p.Glu157Gly) | dbSNP |
| 17 | g.61801380T>G | CA400484115 | BRIP1 | c.506A>C (p.Glu169Ala) c.1013A>C (p.Glu338Ala) n.2754A>C c.919-2081A>C (n.919-2081A>C) c.591A>C (n.591A>C) c.530A>C (p.Glu177Ala) c.470A>C (p.Glu157Ala) | |
| 17 | g.61801380T= | CA2269179597 | BRIP1 | c.506A= (p.Glu169=) c.1013A= (p.Glu338=) n.2754A= c.919-2081A= (n.919-2081A=) c.591A= (n.591A=) c.530A= (p.Glu177=) c.470A= (p.Glu157=) | |
| 17 | g.61801381C>A | CA400484116 | BRIP1 | c.505G>T (p.Glu169Ter) c.1012G>T (p.Glu338Ter) n.2753G>T c.919-2082G>T (n.919-2082G>T) c.590G>T (n.590G>T) c.529G>T (p.Glu177Ter) c.469G>T (p.Glu157Ter) | dbSNP |
| 17 | g.61801381C= | CA2269179598 | BRIP1 | c.505G= (p.Glu169=) c.1012G= (p.Glu338=) n.2753G= c.919-2082G= (n.919-2082G=) c.590G= (n.590G=) c.529G= (p.Glu177=) c.469G= (p.Glu157=) | |
| 17 | g.61801381C>G | CA8690817 | BRIP1 | c.505G>C (p.Glu169Gln) c.1012G>C (p.Glu338Gln) n.2753G>C c.919-2082G>C (n.919-2082G>C) c.590G>C (n.590G>C) c.529G>C (p.Glu177Gln) c.469G>C (p.Glu157Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.61801381C>T | CA292286104 | BRIP1 | c.505G>A (p.Glu169Lys) c.1012G>A (p.Glu338Lys) n.2753G>A c.919-2082G>A (n.919-2082G>A) c.590G>A (n.590G>A) c.529G>A (p.Glu177Lys) c.469G>A (p.Glu157Lys) | ClinVar dbSNP gnomAD v4 |
| 17 | g.61801382T>A | CA501151948 | BRIP1 | c.504A>T (p.Ile168=) c.1011A>T (p.Ile337=) n.2752A>T c.919-2083A>T (n.919-2083A>T) c.589A>T (n.589A>T) c.528A>T (p.Ile176=) c.468A>T (p.Ile156=) | dbSNP |
| 17 | g.61801382T>C | CA400484117 | BRIP1 | c.504A>G (p.Ile168Met) c.1011A>G (p.Ile337Met) n.2752A>G c.919-2083A>G (n.919-2083A>G) c.589A>G (n.589A>G) c.528A>G (p.Ile176Met) c.468A>G (p.Ile156Met) | dbSNP |
| 17 | g.61801382T>G | CA501151949 | BRIP1 | c.504A>C (p.Ile168=) c.1011A>C (p.Ile337=) n.2752A>C c.919-2083A>C (n.919-2083A>C) c.589A>C (n.589A>C) c.528A>C (p.Ile176=) c.468A>C (p.Ile156=) | ClinVar dbSNP |
| 17 | g.61801383A= | CA2269179599 | BRIP1 | c.503T= (p.Ile168=) c.1010T= (p.Ile337=) n.2751T= c.919-2084T= (n.919-2084T=) c.588T= (n.588T=) c.527T= (p.Ile176=) c.467T= (p.Ile156=) | |
| 17 | g.61801383A>C | CA400484118 | BRIP1 | c.503T>G (p.Ile168Arg) c.1010T>G (p.Ile337Arg) n.2751T>G c.919-2084T>G (n.919-2084T>G) c.588T>G (n.588T>G) c.527T>G (p.Ile176Arg) c.467T>G (p.Ile156Arg) | |
| 17 | g.61801383A>G | CA400484119 | BRIP1 | c.503T>C (p.Ile168Thr) c.1010T>C (p.Ile337Thr) n.2751T>C c.919-2084T>C (n.919-2084T>C) c.588T>C (n.588T>C) c.527T>C (p.Ile176Thr) c.467T>C (p.Ile156Thr) | ClinVar dbSNP |
| 17 | g.61801383A>T | CA400484120 | BRIP1 | c.503T>A (p.Ile168Lys) c.1010T>A (p.Ile337Lys) n.2751T>A c.919-2084T>A (n.919-2084T>A) c.588T>A (n.588T>A) c.527T>A (p.Ile176Lys) c.467T>A (p.Ile156Lys) | |
| 17 | g.61801384T>A | CA400484121 | BRIP1 | c.502A>T (p.Ile168Leu) c.1009A>T (p.Ile337Leu) n.2750A>T c.919-2085A>T (n.919-2085A>T) c.587A>T (n.587A>T) c.526A>T (p.Ile176Leu) c.466A>T (p.Ile156Leu) | ClinVar |
| 17 | g.61801384T>C | CA400484122 | BRIP1 | c.502A>G (p.Ile168Val) c.1009A>G (p.Ile337Val) n.2750A>G c.919-2085A>G (n.919-2085A>G) c.587A>G (n.587A>G) c.526A>G (p.Ile176Val) c.466A>G (p.Ile156Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.61801384T>G | CA400484123 | BRIP1 | c.502A>C (p.Ile168Leu) c.1009A>C (p.Ile337Leu) n.2750A>C c.919-2085A>C (n.919-2085A>C) c.587A>C (n.587A>C) c.526A>C (p.Ile176Leu) c.466A>C (p.Ile156Leu) | |
| 17 | g.61801384T= | CA2269179600 | BRIP1 | c.502A= (p.Ile168=) c.1009A= (p.Ile337=) n.2750A= c.919-2085A= (n.919-2085A=) c.587A= (n.587A=) c.526A= (p.Ile176=) c.466A= (p.Ile156=) | |
| 17 | g.61801385A= | CA2269179601 | BRIP1 | c.501T= (p.Asp167=) c.1008T= (p.Asp336=) n.2749T= c.919-2086T= (n.919-2086T=) c.586T= (n.586T=) c.525T= (p.Asp175=) c.465T= (p.Asp155=) | |
| 17 | g.61801385A>C | CA400484124 | BRIP1 | c.501T>G (p.Asp167Glu) c.1008T>G (p.Asp336Glu) n.2749T>G c.919-2086T>G (n.919-2086T>G) c.586T>G (n.586T>G) c.525T>G (p.Asp175Glu) c.465T>G (p.Asp155Glu) | dbSNP |
| 17 | g.61801385A>G | CA10580848 | BRIP1 | c.501T>C (p.Asp167=) c.1008T>C (p.Asp336=) n.2749T>C c.919-2086T>C (n.919-2086T>C) c.586T>C (n.586T>C) c.525T>C (p.Asp175=) c.465T>C (p.Asp155=) | ClinVar dbSNP |
| 17 | g.61801385A>T | CA400484125 | BRIP1 | c.501T>A (p.Asp167Glu) c.1008T>A (p.Asp336Glu) n.2749T>A c.919-2086T>A (n.919-2086T>A) c.586T>A (n.586T>A) c.525T>A (p.Asp175Glu) c.465T>A (p.Asp155Glu) | |
| 17 | g.61801386T>A | CA400484126 | BRIP1 | c.500A>T (p.Asp167Val) c.1007A>T (p.Asp336Val) n.2748A>T c.919-2087A>T (n.919-2087A>T) c.585A>T (n.585A>T) c.524A>T (p.Asp175Val) c.464A>T (p.Asp155Val) | ClinVar dbSNP |
| 17 | g.61801386T>C | CA400484127 | BRIP1 | c.500A>G (p.Asp167Gly) c.1007A>G (p.Asp336Gly) n.2748A>G c.919-2087A>G (n.919-2087A>G) c.585A>G (n.585A>G) c.524A>G (p.Asp175Gly) c.464A>G (p.Asp155Gly) | |
| 17 | g.61801386T>G | CA400484128 | BRIP1 | c.500A>C (p.Asp167Ala) c.1007A>C (p.Asp336Ala) n.2748A>C c.919-2087A>C (n.919-2087A>C) c.585A>C (n.585A>C) c.524A>C (p.Asp175Ala) c.464A>C (p.Asp155Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.61801386T= | CA2269179602 | BRIP1 | c.500A= (p.Asp167=) c.1007A= (p.Asp336=) n.2748A= c.919-2087A= (n.919-2087A=) c.585A= (n.585A=) c.524A= (p.Asp175=) c.464A= (p.Asp155=) | |
| 17 | g.61801387C>A | CA400484131 | BRIP1 | c.499G>T (p.Asp167Tyr) c.1006G>T (p.Asp336Tyr) n.2747G>T c.919-2088G>T (n.919-2088G>T) c.584G>T (n.584G>T) c.523G>T (p.Asp175Tyr) c.463G>T (p.Asp155Tyr) | dbSNP |
| 17 | g.61801387C= | CA2269179603 | BRIP1 | c.499G= (p.Asp167=) c.1006G= (p.Asp336=) n.2747G= c.919-2088G= (n.919-2088G=) c.584G= (n.584G=) c.523G= (p.Asp175=) c.463G= (p.Asp155=) | |
| 17 | g.61801387C>G | CA400484130 | BRIP1 | c.499G>C (p.Asp167His) c.1006G>C (p.Asp336His) n.2747G>C c.919-2088G>C (n.919-2088G>C) c.584G>C (n.584G>C) c.523G>C (p.Asp175His) c.463G>C (p.Asp155His) | dbSNP |
| 17 | g.61801387C>T | CA400484129 | BRIP1 | c.499G>A (p.Asp167Asn) c.1006G>A (p.Asp336Asn) n.2747G>A c.919-2088G>A (n.919-2088G>A) c.584G>A (n.584G>A) c.523G>A (p.Asp175Asn) c.463G>A (p.Asp155Asn) | ClinVar dbSNP |
| 17 | g.61801388C>A | CA400484132 | BRIP1 | c.498G>T (p.Trp166Cys) c.1005G>T (p.Trp335Cys) n.2746G>T c.919-2089G>T (n.919-2089G>T) c.583G>T (n.583G>T) c.522G>T (p.Trp174Cys) c.462G>T (p.Trp154Cys) | |
| 17 | g.61801388C= | CA2269179604 | BRIP1 | c.498G= (p.Trp166=) c.1005G= (p.Trp335=) n.2746G= c.919-2089G= (n.919-2089G=) c.583G= (n.583G=) c.522G= (p.Trp174=) c.462G= (p.Trp154=) | |
| 17 | g.61801388C>G | CA400484133 | BRIP1 | c.498G>C (p.Trp166Cys) c.1005G>C (p.Trp335Cys) n.2746G>C c.919-2089G>C (n.919-2089G>C) c.583G>C (n.583G>C) c.522G>C (p.Trp174Cys) c.462G>C (p.Trp154Cys) | gnomAD v4 |
| 17 | g.61801388C>T | CA190545 | BRIP1 | c.498G>A (p.Trp166Ter) c.1005G>A (p.Trp335Ter) n.2746G>A c.919-2089G>A (n.919-2089G>A) c.583G>A (n.583G>A) c.522G>A (p.Trp174Ter) c.462G>A (p.Trp154Ter) | ClinVar dbSNP gnomAD v4 |
| 17 | g.61801389C>A | CA400484134 | BRIP1 | c.497G>T (p.Trp166Leu) c.1004G>T (p.Trp335Leu) n.2745G>T c.919-2090G>T (n.919-2090G>T) c.582G>T (n.582G>T) c.521G>T (p.Trp174Leu) c.461G>T (p.Trp154Leu) | dbSNP |
| 17 | g.61801389C= | CA2269179605 | BRIP1 | c.497G= (p.Trp166=) c.1004G= (p.Trp335=) n.2745G= c.919-2090G= (n.919-2090G=) c.582G= (n.582G=) c.521G= (p.Trp174=) c.461G= (p.Trp154=) | |
| 17 | g.61801389C>G | CA400484135 | BRIP1 | c.497G>C (p.Trp166Ser) c.1004G>C (p.Trp335Ser) n.2745G>C c.919-2090G>C (n.919-2090G>C) c.582G>C (n.582G>C) c.521G>C (p.Trp174Ser) c.461G>C (p.Trp154Ser) | dbSNP |
| 17 | g.61801389C>T | CA400484136 | BRIP1 | c.497G>A (p.Trp166Ter) c.1004G>A (p.Trp335Ter) n.2745G>A c.919-2090G>A (n.919-2090G>A) c.582G>A (n.582G>A) c.521G>A (p.Trp174Ter) c.461G>A (p.Trp154Ter) | ClinVar dbSNP |
| 17 | g.61801390A>C | CA400484137 | BRIP1 | c.496T>G (p.Trp166Gly) c.1003T>G (p.Trp335Gly) n.2744T>G c.919-2091T>G (n.919-2091T>G) c.581T>G (n.581T>G) c.520T>G (p.Trp174Gly) c.460T>G (p.Trp154Gly) | |
| 17 | g.61801390A>G | CA400484138 | BRIP1 | c.496T>C (p.Trp166Arg) c.1003T>C (p.Trp335Arg) n.2744T>C c.919-2091T>C (n.919-2091T>C) c.581T>C (n.581T>C) c.520T>C (p.Trp174Arg) c.460T>C (p.Trp154Arg) | dbSNP |
| 17 | g.61801390A>T | CA400484139 | BRIP1 | c.496T>A (p.Trp166Arg) c.1003T>A (p.Trp335Arg) n.2744T>A c.919-2091T>A (n.919-2091T>A) c.581T>A (n.581T>A) c.520T>A (p.Trp174Arg) c.460T>A (p.Trp154Arg) | dbSNP |
| 17 | g.61801391G>A | CA501151955 | BRIP1 | c.495C>T (p.Ala165=) c.1002C>T (p.Ala334=) n.2743C>T c.919-2092C>T (n.919-2092C>T) c.580C>T (n.580C>T) c.519C>T (p.Ala173=) c.459C>T (p.Ala153=) | ClinVar dbSNP |
| 17 | g.61801391G>C | CA501151956 | BRIP1 | c.495C>G (p.Ala165=) c.1002C>G (p.Ala334=) n.2743C>G c.919-2092C>G (n.919-2092C>G) c.580C>G (n.580C>G) c.519C>G (p.Ala173=) c.459C>G (p.Ala153=) | dbSNP gnomAD v4 |
| 17 | g.61801391G= | CA2269179606 | BRIP1 | c.495C= (p.Ala165=) c.1002C= (p.Ala334=) n.2743C= c.919-2092C= (n.919-2092C=) c.580C= (n.580C=) c.519C= (p.Ala173=) c.459C= (p.Ala153=) | |
| 17 | g.61801391G>T | CA501151957 | BRIP1 | c.495C>A (p.Ala165=) c.1002C>A (p.Ala334=) n.2743C>A c.919-2092C>A (n.919-2092C>A) c.580C>A (n.580C>A) c.519C>A (p.Ala173=) c.459C>A (p.Ala153=) | |
| 17 | g.61801392G>A | CA400484140 | BRIP1 | c.494C>T (p.Ala165Val) c.1001C>T (p.Ala334Val) n.2742C>T c.919-2093C>T (n.919-2093C>T) c.579C>T (n.579C>T) c.518C>T (p.Ala173Val) c.458C>T (p.Ala153Val) | dbSNP COSMIC COSMIC |
| 17 | g.61801392G>C | CA400484141 | BRIP1 | c.494C>G (p.Ala165Gly) c.1001C>G (p.Ala334Gly) n.2742C>G c.919-2093C>G (n.919-2093C>G) c.579C>G (n.579C>G) c.518C>G (p.Ala173Gly) c.458C>G (p.Ala153Gly) | ClinVar dbSNP |
| 17 | g.61801392G>T | CA400484142 | BRIP1 | c.494C>A (p.Ala165Asp) c.1001C>A (p.Ala334Asp) n.2742C>A c.919-2093C>A (n.919-2093C>A) c.579C>A (n.579C>A) c.518C>A (p.Ala173Asp) c.458C>A (p.Ala153Asp) | |
| 17 | g.61801393C>A | CA298863 | BRIP1 | c.493G>T (p.Ala165Ser) c.1000G>T (p.Ala334Ser) n.2741G>T c.919-2094G>T (n.919-2094G>T) c.578G>T (n.578G>T) c.517G>T (p.Ala173Ser) c.457G>T (p.Ala153Ser) | ClinVar dbSNP gnomAD v4 |
| 17 | g.61801393C= | CA2269179607 | BRIP1 | c.493G= (p.Ala165=) c.1000G= (p.Ala334=) n.2741G= c.919-2094G= (n.919-2094G=) c.578G= (n.578G=) c.517G= (p.Ala173=) c.457G= (p.Ala153=) | |
| 17 | g.61801393C>G | CA400484143 | BRIP1 | c.493G>C (p.Ala165Pro) c.1000G>C (p.Ala334Pro) n.2741G>C c.919-2094G>C (n.919-2094G>C) c.578G>C (n.578G>C) c.517G>C (p.Ala173Pro) c.457G>C (p.Ala153Pro) | dbSNP |
| 17 | g.61801393C>T | CA8690818 | BRIP1 | c.493G>A (p.Ala165Thr) c.1000G>A (p.Ala334Thr) n.2741G>A c.919-2094G>A (n.919-2094G>A) c.578G>A (n.578G>A) c.517G>A (p.Ala173Thr) c.457G>A (p.Ala153Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.61801394T>A | CA400484144 | BRIP1 | c.492A>T (p.Lys164Asn) c.999A>T (p.Lys333Asn) n.2740A>T c.919-2095A>T (n.919-2095A>T) c.577A>T (n.577A>T) c.516A>T (p.Lys172Asn) c.456A>T (p.Lys152Asn) | |
| 17 | g.61801394T>C | CA501151961 | BRIP1 | c.492A>G (p.Lys164=) c.999A>G (p.Lys333=) n.2740A>G c.919-2095A>G (n.919-2095A>G) c.577A>G (n.577A>G) c.516A>G (p.Lys172=) c.456A>G (p.Lys152=) | |
| 17 | g.61801394T>G | CA400484145 | BRIP1 | c.492A>C (p.Lys164Asn) c.999A>C (p.Lys333Asn) n.2740A>C c.919-2095A>C (n.919-2095A>C) c.577A>C (n.577A>C) c.516A>C (p.Lys172Asn) c.456A>C (p.Lys152Asn) | |
| 17 | g.61801395T>A | CA400484146 | BRIP1 | c.491A>T (p.Lys164Ile) c.998A>T (p.Lys333Ile) n.2739A>T c.919-2096A>T (n.919-2096A>T) c.576A>T (n.576A>T) c.515A>T (p.Lys172Ile) c.455A>T (p.Lys152Ile) | dbSNP |
| 17 | g.61801395T>C | CA400484147 | BRIP1 | c.491A>G (p.Lys164Arg) c.998A>G (p.Lys333Arg) n.2739A>G c.919-2096A>G (n.919-2096A>G) c.576A>G (n.576A>G) c.515A>G (p.Lys172Arg) c.455A>G (p.Lys152Arg) | ClinVar dbSNP |
| 17 | g.61801395T>G | CA400484148 | BRIP1 | c.491A>C (p.Lys164Thr) c.998A>C (p.Lys333Thr) n.2739A>C c.919-2096A>C (n.919-2096A>C) c.576A>C (n.576A>C) c.515A>C (p.Lys172Thr) c.455A>C (p.Lys152Thr) | |
| 17 | g.61801396T>A | CA400484149 | BRIP1 | c.490A>T (p.Lys164Ter) c.997A>T (p.Lys333Ter) n.2738A>T c.919-2097A>T (n.919-2097A>T) c.575A>T (n.575A>T) c.514A>T (p.Lys172Ter) c.454A>T (p.Lys152Ter) | dbSNP |
| 17 | g.61801396T>C | CA8690819 | BRIP1 | c.490A>G (p.Lys164Glu) c.997A>G (p.Lys333Glu) n.2738A>G c.919-2097A>G (n.919-2097A>G) c.575A>G (n.575A>G) c.514A>G (p.Lys172Glu) c.454A>G (p.Lys152Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.61801396T>G | CA400484150 | BRIP1 | c.490A>C (p.Lys164Gln) c.997A>C (p.Lys333Gln) n.2738A>C c.919-2097A>C (n.919-2097A>C) c.575A>C (n.575A>C) c.514A>C (p.Lys172Gln) c.454A>C (p.Lys152Gln) | |
| 17 | g.61801396T= | CA2269179608 | BRIP1 | c.490A= (p.Lys164=) c.997A= (p.Lys333=) n.2738A= c.919-2097A= (n.919-2097A=) c.575A= (n.575A=) c.514A= (p.Lys172=) c.454A= (p.Lys152=) | |
| 17 | g.61801397G>A | CA501151962 | BRIP1 | c.489C>T (p.Cys163=) c.996C>T (p.Cys332=) n.2737C>T c.919-2098C>T (n.919-2098C>T) c.574C>T (n.574C>T) c.513C>T (p.Cys171=) c.453C>T (p.Cys151=) | dbSNP |
| 17 | g.61801397G>C | CA400484151 | BRIP1 | c.489C>G (p.Cys163Trp) c.996C>G (p.Cys332Trp) n.2737C>G c.919-2098C>G (n.919-2098C>G) c.574C>G (n.574C>G) c.513C>G (p.Cys171Trp) c.453C>G (p.Cys151Trp) | dbSNP gnomAD v4 |
| 17 | g.61801397G>T | CA400484152 | BRIP1 | c.489C>A (p.Cys163Ter) c.996C>A (p.Cys332Ter) n.2737C>A c.919-2098C>A (n.919-2098C>A) c.574C>A (n.574C>A) c.513C>A (p.Cys171Ter) c.453C>A (p.Cys151Ter) | |
| 17 | g.61801398C>A | CA400484153 | BRIP1 | c.488G>T (p.Cys163Phe) c.995G>T (p.Cys332Phe) n.2736G>T c.919-2099G>T (n.919-2099G>T) c.573G>T (n.573G>T) c.512G>T (p.Cys171Phe) c.452G>T (p.Cys151Phe) | |
| 17 | g.61801398C= | CA2269179609 | BRIP1 | c.488G= (p.Cys163=) c.995G= (p.Cys332=) n.2736G= c.919-2099G= (n.919-2099G=) c.573G= (n.573G=) c.512G= (p.Cys171=) c.452G= (p.Cys151=) | |
| 17 | g.61801398C>G | CA400484154 | BRIP1 | c.488G>C (p.Cys163Ser) c.995G>C (p.Cys332Ser) n.2736G>C c.919-2099G>C (n.919-2099G>C) c.573G>C (n.573G>C) c.512G>C (p.Cys171Ser) c.452G>C (p.Cys151Ser) | dbSNP |
| 17 | g.61801398C>T | CA10577564 | BRIP1 | c.488G>A (p.Cys163Tyr) c.995G>A (p.Cys332Tyr) n.2736G>A c.919-2099G>A (n.919-2099G>A) c.573G>A (n.573G>A) c.512G>A (p.Cys171Tyr) c.452G>A (p.Cys151Tyr) | ClinVar dbSNP gnomAD v2 |
| 17 | g.61801399A>C | CA400484157 | BRIP1 | c.487T>G (p.Cys163Gly) c.994T>G (p.Cys332Gly) n.2735T>G c.919-2100T>G (n.919-2100T>G) c.572T>G (n.572T>G) c.511T>G (p.Cys171Gly) c.451T>G (p.Cys151Gly) | dbSNP |
| 17 | g.61801399A>G | CA400484156 | BRIP1 | c.487T>C (p.Cys163Arg) c.994T>C (p.Cys332Arg) n.2735T>C c.919-2100T>C (n.919-2100T>C) c.572T>C (n.572T>C) c.511T>C (p.Cys171Arg) c.451T>C (p.Cys151Arg) | dbSNP |
| 17 | g.61801399A>T | CA400484155 | BRIP1 | c.487T>A (p.Cys163Ser) c.994T>A (p.Cys332Ser) n.2735T>A c.919-2100T>A (n.919-2100T>A) c.572T>A (n.572T>A) c.511T>A (p.Cys171Ser) c.451T>A (p.Cys151Ser) | dbSNP |
| 17 | g.61801400C>A | CA400484159 | BRIP1 | c.486G>T (p.Met162Ile) c.993G>T (p.Met331Ile) n.2734G>T c.919-2101G>T (n.919-2101G>T) c.571G>T (n.571G>T) c.510G>T (p.Met170Ile) c.450G>T (p.Met150Ile) | |
| 17 | g.61801400C= | CA2269179610 | BRIP1 | c.486G= (p.Met162=) c.993G= (p.Met331=) n.2734G= c.919-2101G= (n.919-2101G=) c.571G= (n.571G=) c.510G= (p.Met170=) c.450G= (p.Met150=) | |
| 17 | g.61801400C>G | CA400484158 | BRIP1 | c.486G>C (p.Met162Ile) c.993G>C (p.Met331Ile) n.2734G>C c.919-2101G>C (n.919-2101G>C) c.571G>C (n.571G>C) c.510G>C (p.Met170Ile) c.450G>C (p.Met150Ile) | dbSNP |
| 17 | g.61801400C>T | CA288615 | BRIP1 | c.486G>A (p.Met162Ile) c.993G>A (p.Met331Ile) n.2734G>A c.919-2101G>A (n.919-2101G>A) c.571G>A (n.571G>A) c.510G>A (p.Met170Ile) c.450G>A (p.Met150Ile) | ClinVar dbSNP |
| 17 | g.61801401A= | CA2269179611 | BRIP1 | c.485T= (p.Met162=) c.992T= (p.Met331=) n.2733T= c.919-2102T= (n.919-2102T=) c.570T= (n.570T=) c.509T= (p.Met170=) c.449T= (p.Met150=) | |
| 17 | g.61801401A>C | CA169594 | BRIP1 | c.485T>G (p.Met162Arg) c.992T>G (p.Met331Arg) n.2733T>G c.919-2102T>G (n.919-2102T>G) c.570T>G (n.570T>G) c.509T>G (p.Met170Arg) c.449T>G (p.Met150Arg) | ClinVar dbSNP |
| 17 | g.61801401A>G | CA400484160 | BRIP1 | c.485T>C (p.Met162Thr) c.992T>C (p.Met331Thr) n.2733T>C c.919-2102T>C (n.919-2102T>C) c.570T>C (n.570T>C) c.509T>C (p.Met170Thr) c.449T>C (p.Met150Thr) | |
| 17 | g.61801401A>T | CA400484161 | BRIP1 | c.485T>A (p.Met162Lys) c.992T>A (p.Met331Lys) n.2733T>A c.919-2102T>A (n.919-2102T>A) c.570T>A (n.570T>A) c.509T>A (p.Met170Lys) c.449T>A (p.Met150Lys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.61801402T>A | CA400484162 | BRIP1 | c.484A>T (p.Met162Leu) c.991A>T (p.Met331Leu) n.2732A>T c.919-2103A>T (n.919-2103A>T) c.569A>T (n.569A>T) c.508A>T (p.Met170Leu) c.448A>T (p.Met150Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.61801402T>C | CA400484163 | BRIP1 | c.484A>G (p.Met162Val) c.991A>G (p.Met331Val) n.2732A>G c.919-2103A>G (n.919-2103A>G) c.569A>G (n.569A>G) c.508A>G (p.Met170Val) c.448A>G (p.Met150Val) | ClinVar |
| 17 | g.61801402T>G | CA400484164 | BRIP1 | c.484A>C (p.Met162Leu) c.991A>C (p.Met331Leu) n.2732A>C c.919-2103A>C (n.919-2103A>C) c.569A>C (n.569A>C) c.508A>C (p.Met170Leu) c.448A>C (p.Met150Leu) | |
| 17 | g.61801402T= | CA2269179612 | BRIP1 | c.484A= (p.Met162=) c.991A= (p.Met331=) n.2732A= c.919-2103A= (n.919-2103A=) c.569A= (n.569A=) c.508A= (p.Met170=) c.448A= (p.Met150=) | |
| 17 | g.61801403C>A | CA501151963 | BRIP1 | c.483G>T (p.Gly161=) c.990G>T (p.Gly330=) n.2731G>T c.919-2104G>T (n.919-2104G>T) c.568G>T (n.568G>T) c.507G>T (p.Gly169=) c.447G>T (p.Gly149=) | dbSNP |
| 17 | g.61801403C= | CA2269179613 | BRIP1 | c.483G= (p.Gly161=) c.990G= (p.Gly330=) n.2731G= c.919-2104G= (n.919-2104G=) c.568G= (n.568G=) c.507G= (p.Gly169=) c.447G= (p.Gly149=) | |
| 17 | g.61801403C>G | CA501151964 | BRIP1 | c.483G>C (p.Gly161=) c.990G>C (p.Gly330=) n.2731G>C c.919-2104G>C (n.919-2104G>C) c.568G>C (n.568G>C) c.507G>C (p.Gly169=) c.447G>C (p.Gly149=) | dbSNP |
| 17 | g.61801403C>T | CA16615529 | BRIP1 | c.483G>A (p.Gly161=) c.990G>A (p.Gly330=) n.2731G>A c.919-2104G>A (n.919-2104G>A) c.568G>A (n.568G>A) c.507G>A (p.Gly169=) c.447G>A (p.Gly149=) | ClinVar dbSNP COSMIC COSMIC |
| 17 | g.61801403_61801409del | CA2499224808 | BRIP1 | c.477_483del (p.Phe159LeufsTer8) c.984_990del (p.Phe328LeufsTer8) n.2725_2731del c.919-2110_919-2104del (n.919-2110_919-2104del) c.562_568del (n.562_568del) c.501_507del (p.Phe167LeufsTer8) c.441_447del (p.Phe147LeufsTer8) | ClinVar dbSNP |
| 17 | g.61801404C>A | CA400484165 | BRIP1 | c.482G>T (p.Gly161Val) c.989G>T (p.Gly330Val) n.2730G>T c.919-2105G>T (n.919-2105G>T) c.567G>T (n.567G>T) c.506G>T (p.Gly169Val) c.446G>T (p.Gly149Val) | dbSNP |
| 17 | g.61801404C>G | CA400484166 | BRIP1 | c.482G>C (p.Gly161Ala) c.989G>C (p.Gly330Ala) n.2730G>C c.919-2105G>C (n.919-2105G>C) c.567G>C (n.567G>C) c.506G>C (p.Gly169Ala) c.446G>C (p.Gly149Ala) | dbSNP |
| 17 | g.61801404C>T | CA400484167 | BRIP1 | c.482G>A (p.Gly161Glu) c.989G>A (p.Gly330Glu) n.2730G>A c.919-2105G>A (n.919-2105G>A) c.567G>A (n.567G>A) c.506G>A (p.Gly169Glu) c.446G>A (p.Gly149Glu) | dbSNP |
| 17 | g.61801405C>A | CA400484168 | BRIP1 | c.481G>T (p.Gly161Trp) c.988G>T (p.Gly330Trp) n.2729G>T c.919-2106G>T (n.919-2106G>T) c.566G>T (n.566G>T) c.505G>T (p.Gly169Trp) c.445G>T (p.Gly149Trp) | dbSNP |
| 17 | g.61801405C>G | CA400484169 | BRIP1 | c.481G>C (p.Gly161Arg) c.988G>C (p.Gly330Arg) n.2729G>C c.919-2106G>C (n.919-2106G>C) c.566G>C (n.566G>C) c.505G>C (p.Gly169Arg) c.445G>C (p.Gly149Arg) | dbSNP |
| 17 | g.61801405C>T | CA400484170 | BRIP1 | c.481G>A (p.Gly161Arg) c.988G>A (p.Gly330Arg) n.2729G>A c.919-2106G>A (n.919-2106G>A) c.566G>A (n.566G>A) c.505G>A (p.Gly169Arg) c.445G>A (p.Gly149Arg) | ClinVar dbSNP |
| 17 | g.61801406T>A | CA400484171 | BRIP1 | c.480A>T (p.Gln160His) c.987A>T (p.Gln329His) n.2728A>T c.919-2107A>T (n.919-2107A>T) c.565A>T (n.565A>T) c.504A>T (p.Gln168His) c.444A>T (p.Gln148His) | dbSNP |
| 17 | g.61801406T>C | CA501151965 | BRIP1 | c.480A>G (p.Gln160=) c.987A>G (p.Gln329=) n.2728A>G c.919-2107A>G (n.919-2107A>G) c.565A>G (n.565A>G) c.504A>G (p.Gln168=) c.444A>G (p.Gln148=) | |
| 17 | g.61801406T>G | CA400484172 | BRIP1 | c.480A>C (p.Gln160His) c.987A>C (p.Gln329His) n.2728A>C c.919-2107A>C (n.919-2107A>C) c.565A>C (n.565A>C) c.504A>C (p.Gln168His) c.444A>C (p.Gln148His) | |
| 17 | g.61801407T>A | CA400484173 | BRIP1 | c.479A>T (p.Gln160Leu) c.986A>T (p.Gln329Leu) n.2727A>T c.919-2108A>T (n.919-2108A>T) c.564A>T (n.564A>T) c.503A>T (p.Gln168Leu) c.443A>T (p.Gln148Leu) | |
| 17 | g.61801407T>C | CA8690820 | BRIP1 | c.479A>G (p.Gln160Arg) c.986A>G (p.Gln329Arg) n.2727A>G c.919-2108A>G (n.919-2108A>G) c.564A>G (n.564A>G) c.503A>G (p.Gln168Arg) c.443A>G (p.Gln148Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.61801407T>G | CA400484174 | BRIP1 | c.479A>C (p.Gln160Pro) c.986A>C (p.Gln329Pro) n.2727A>C c.919-2108A>C (n.919-2108A>C) c.564A>C (n.564A>C) c.503A>C (p.Gln168Pro) c.443A>C (p.Gln148Pro) | |
| 17 | g.61801407T= | CA2269179614 | BRIP1 | c.479A= (p.Gln160=) c.986A= (p.Gln329=) n.2727A= c.919-2108A= (n.919-2108A=) c.564A= (n.564A=) c.503A= (p.Gln168=) c.443A= (p.Gln148=) | |
| 17 | g.61801408G>A | CA400484175 | BRIP1 | c.478C>T (p.Gln160Ter) c.985C>T (p.Gln329Ter) n.2726C>T c.919-2109C>T (n.919-2109C>T) c.563C>T (n.563C>T) c.502C>T (p.Gln168Ter) c.442C>T (p.Gln148Ter) | ClinVar dbSNP gnomAD v4 |
| 17 | g.61801408G>C | CA400484176 | BRIP1 | c.478C>G (p.Gln160Glu) c.985C>G (p.Gln329Glu) n.2726C>G c.919-2109C>G (n.919-2109C>G) c.563C>G (n.563C>G) c.502C>G (p.Gln168Glu) c.442C>G (p.Gln148Glu) | dbSNP |
| 17 | g.61801408G= | CA2269179615 | BRIP1 | c.478C= (p.Gln160=) c.985C= (p.Gln329=) n.2726C= c.919-2109C= (n.919-2109C=) c.563C= (n.563C=) c.502C= (p.Gln168=) c.442C= (p.Gln148=) | |
| 17 | g.61801408G>T | CA400484177 | BRIP1 | c.478C>A (p.Gln160Lys) c.985C>A (p.Gln329Lys) n.2726C>A c.919-2109C>A (n.919-2109C>A) c.563C>A (n.563C>A) c.502C>A (p.Gln168Lys) c.442C>A (p.Gln148Lys) | dbSNP |
| 17 | g.61801409del | CA2733908132 | BRIP1 | c.478del (p.Gln160LysfsTer9) c.985del (p.Gln329LysfsTer9) n.2726del c.919-2109del (n.919-2109del) c.563del (n.563del) c.502del (p.Gln168LysfsTer9) c.442del (p.Gln148LysfsTer9) | ClinVar dbSNP |
| 17 | g.61801408_61801409insT | CA658684169 | BRIP1 | c.477_478insA (p.Gln160ThrfsTer?) c.984_985insA (p.Gln329ThrfsTer?) n.2725_2726insA c.919-2110_919-2109insA (n.919-2110_919-2109insA) c.562_563insA (n.562_563insA) c.501_502insA (p.Gln168ThrfsTer?) c.441_442insA (p.Gln148ThrfsTer?) | ClinVar dbSNP gnomAD v4 |
| 17 | g.61801409G>A | CA190048 | BRIP1 | c.477C>T (p.Phe159=) c.984C>T (p.Phe328=) n.2725C>T c.919-2110C>T (n.919-2110C>T) c.562C>T (n.562C>T) c.501C>T (p.Phe167=) c.441C>T (p.Phe147=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.61801409G>C | CA400484178 | BRIP1 | c.477C>G (p.Phe159Leu) c.984C>G (p.Phe328Leu) n.2725C>G c.919-2110C>G (n.919-2110C>G) c.562C>G (n.562C>G) c.501C>G (p.Phe167Leu) c.441C>G (p.Phe147Leu) | dbSNP |
| 17 | g.61801409G= | CA2269179616 | BRIP1 | c.477C= (p.Phe159=) c.984C= (p.Phe328=) n.2725C= c.919-2110C= (n.919-2110C=) c.562C= (n.562C=) c.501C= (p.Phe167=) c.441C= (p.Phe147=) | |
| 17 | g.61801409G>T | CA400484179 | BRIP1 | c.477C>A (p.Phe159Leu) c.984C>A (p.Phe328Leu) n.2725C>A c.919-2110C>A (n.919-2110C>A) c.562C>A (n.562C>A) c.501C>A (p.Phe167Leu) c.441C>A (p.Phe147Leu) | ClinVar dbSNP |
| 17 | g.61801410A= | CA2269179617 | BRIP1 | c.476T= (p.Phe159=) c.983T= (p.Phe328=) n.2724T= c.919-2111T= (n.919-2111T=) c.561T= (n.561T=) c.500T= (p.Phe167=) c.440T= (p.Phe147=) | |
| 17 | g.61801410A>C | CA400484180 | BRIP1 | c.476T>G (p.Phe159Cys) c.983T>G (p.Phe328Cys) n.2724T>G c.919-2111T>G (n.919-2111T>G) c.561T>G (n.561T>G) c.500T>G (p.Phe167Cys) c.440T>G (p.Phe147Cys) | gnomAD v4 |
| 17 | g.61801410A>G | CA10580849 | BRIP1 | c.476T>C (p.Phe159Ser) c.983T>C (p.Phe328Ser) n.2724T>C c.919-2111T>C (n.919-2111T>C) c.561T>C (n.561T>C) c.500T>C (p.Phe167Ser) c.440T>C (p.Phe147Ser) | ClinVar dbSNP |
| 17 | g.61801410A>T | CA400484181 | BRIP1 | c.476T>A (p.Phe159Tyr) c.983T>A (p.Phe328Tyr) n.2724T>A c.919-2111T>A (n.919-2111T>A) c.561T>A (n.561T>A) c.500T>A (p.Phe167Tyr) c.440T>A (p.Phe147Tyr) | ClinVar dbSNP |
| 17 | g.61801411A= | CA2269179618 | BRIP1 | c.475T= (p.Phe159=) c.982T= (p.Phe328=) n.2723T= c.919-2112T= (n.919-2112T=) c.560T= (n.560T=) c.499T= (p.Phe167=) c.439T= (p.Phe147=) | |
| 17 | g.61801411A>C | CA400484183 | BRIP1 | c.475T>G (p.Phe159Val) c.982T>G (p.Phe328Val) n.2723T>G c.919-2112T>G (n.919-2112T>G) c.560T>G (n.560T>G) c.499T>G (p.Phe167Val) c.439T>G (p.Phe147Val) | |
| 17 | g.61801411A>G | CA400484184 | BRIP1 | c.475T>C (p.Phe159Leu) c.982T>C (p.Phe328Leu) n.2723T>C c.919-2112T>C (n.919-2112T>C) c.560T>C (n.560T>C) c.499T>C (p.Phe167Leu) c.439T>C (p.Phe147Leu) | ClinVar dbSNP |
| 17 | g.61801411A>T | CA400484182 | BRIP1 | c.475T>A (p.Phe159Ile) c.982T>A (p.Phe328Ile) n.2723T>A c.919-2112T>A (n.919-2112T>A) c.560T>A (n.560T>A) c.499T>A (p.Phe167Ile) c.439T>A (p.Phe147Ile) | dbSNP |
| 17 | g.61801412A>C | CA501151967 | BRIP1 | c.474T>G (p.Thr158=) c.981T>G (p.Thr327=) n.2722T>G c.919-2113T>G (n.919-2113T>G) c.559T>G (n.559T>G) c.498T>G (p.Thr166=) c.438T>G (p.Thr146=) | |
| 17 | g.61801412A>G | CA501151968 | BRIP1 | c.474T>C (p.Thr158=) c.981T>C (p.Thr327=) n.2722T>C c.919-2113T>C (n.919-2113T>C) c.559T>C (n.559T>C) c.498T>C (p.Thr166=) c.438T>C (p.Thr146=) | |
| 17 | g.61801412A>T | CA501151969 | BRIP1 | c.474T>A (p.Thr158=) c.981T>A (p.Thr327=) n.2722T>A c.919-2113T>A (n.919-2113T>A) c.559T>A (n.559T>A) c.498T>A (p.Thr166=) c.438T>A (p.Thr146=) | ClinVar dbSNP |
| 17 | g.61801413G>A | CA400484185 | BRIP1 | c.473C>T (p.Thr158Ile) c.980C>T (p.Thr327Ile) n.2721C>T c.919-2114C>T (n.919-2114C>T) c.558C>T (n.558C>T) c.497C>T (p.Thr166Ile) c.437C>T (p.Thr146Ile) | ClinVar dbSNP |
| 17 | g.61801413G>C | CA400484187 | BRIP1 | c.473C>G (p.Thr158Ser) c.980C>G (p.Thr327Ser) n.2721C>G c.919-2114C>G (n.919-2114C>G) c.558C>G (n.558C>G) c.497C>G (p.Thr166Ser) c.437C>G (p.Thr146Ser) | ClinVar dbSNP |
| 17 | g.61801413G>T | CA400484186 | BRIP1 | c.473C>A (p.Thr158Asn) c.980C>A (p.Thr327Asn) n.2721C>A c.919-2114C>A (n.919-2114C>A) c.558C>A (n.558C>A) c.497C>A (p.Thr166Asn) c.437C>A (p.Thr146Asn) | |
| 17 | g.61801414T>A | CA400484188 | BRIP1 | c.472A>T (p.Thr158Ser) c.979A>T (p.Thr327Ser) n.2720A>T c.919-2115A>T (n.919-2115A>T) c.557A>T (n.557A>T) c.496A>T (p.Thr166Ser) c.436A>T (p.Thr146Ser) | ClinVar dbSNP |
| 17 | g.61801414T>C | CA400484190 | BRIP1 | c.472A>G (p.Thr158Ala) c.979A>G (p.Thr327Ala) n.2720A>G c.919-2115A>G (n.919-2115A>G) c.557A>G (n.557A>G) c.496A>G (p.Thr166Ala) c.436A>G (p.Thr146Ala) | |
| 17 | g.61801414T>G | CA400484189 | BRIP1 | c.472A>C (p.Thr158Pro) c.979A>C (p.Thr327Pro) n.2720A>C c.919-2115A>C (n.919-2115A>C) c.557A>C (n.557A>C) c.496A>C (p.Thr166Pro) c.436A>C (p.Thr146Pro) | |
| 17 | g.61801414T= | CA2269179619 | BRIP1 | c.472A= (p.Thr158=) c.979A= (p.Thr327=) n.2720A= c.919-2115A= (n.919-2115A=) c.557A= (n.557A=) c.496A= (p.Thr166=) c.436A= (p.Thr146=) | |
| 17 | g.61801415C>A | CA400484191 | BRIP1 | c.471G>T (p.Gln157His) c.978G>T (p.Gln326His) n.2719G>T c.919-2116G>T (n.919-2116G>T) c.556G>T (n.556G>T) c.495G>T (p.Gln165His) c.435G>T (p.Gln145His) | dbSNP |
| 17 | g.61801415C= | CA2269179620 | BRIP1 | c.471G= (p.Gln157=) c.978G= (p.Gln326=) n.2719G= c.919-2116G= (n.919-2116G=) c.556G= (n.556G=) c.495G= (p.Gln165=) c.435G= (p.Gln145=) | |
| 17 | g.61801415C>G | CA400484192 | BRIP1 | c.471G>C (p.Gln157His) c.978G>C (p.Gln326His) n.2719G>C c.919-2116G>C (n.919-2116G>C) c.556G>C (n.556G>C) c.495G>C (p.Gln165His) c.435G>C (p.Gln145His) | dbSNP |
| 17 | g.61801415C>T | CA501151970 | BRIP1 | c.471G>A (p.Gln157=) c.978G>A (p.Gln326=) n.2719G>A c.919-2116G>A (n.919-2116G>A) c.556G>A (n.556G>A) c.495G>A (p.Gln165=) c.435G>A (p.Gln145=) | ClinVar dbSNP |
| 17 | g.61801416T>A | CA400484193 | BRIP1 | c.470A>T (p.Gln157Leu) c.977A>T (p.Gln326Leu) n.2718A>T c.919-2117A>T (n.919-2117A>T) c.555A>T (n.555A>T) c.494A>T (p.Gln165Leu) c.434A>T (p.Gln145Leu) | dbSNP |
| 17 | g.61801416T>C | CA16620539 | BRIP1 | c.470A>G (p.Gln157Arg) c.977A>G (p.Gln326Arg) n.2718A>G c.919-2117A>G (n.919-2117A>G) c.555A>G (n.555A>G) c.494A>G (p.Gln165Arg) c.434A>G (p.Gln145Arg) | ClinVar dbSNP |
| 17 | g.61801416T>G | CA400484194 | BRIP1 | c.470A>C (p.Gln157Pro) c.977A>C (p.Gln326Pro) n.2718A>C c.919-2117A>C (n.919-2117A>C) c.555A>C (n.555A>C) c.494A>C (p.Gln165Pro) c.434A>C (p.Gln145Pro) | |
| 17 | g.61801416T= | CA2269179621 | BRIP1 | c.470A= (p.Gln157=) c.977A= (p.Gln326=) n.2718A= c.919-2117A= (n.919-2117A=) c.555A= (n.555A=) c.494A= (p.Gln165=) c.434A= (p.Gln145=) | |
| 17 | g.61801417G>A | CA400484195 | BRIP1 | c.469C>T (p.Gln157Ter) c.976C>T (p.Gln326Ter) n.2717C>T c.919-2118C>T (n.919-2118C>T) c.554C>T (n.554C>T) c.493C>T (p.Gln165Ter) c.433C>T (p.Gln145Ter) | ClinVar dbSNP gnomAD v4 |
| 17 | g.61801417G>C | CA400484196 | BRIP1 | c.469C>G (p.Gln157Glu) c.976C>G (p.Gln326Glu) n.2717C>G c.919-2118C>G (n.919-2118C>G) c.554C>G (n.554C>G) c.493C>G (p.Gln165Glu) c.433C>G (p.Gln145Glu) | ClinVar dbSNP |
| 17 | g.61801417G= | CA2269179622 | BRIP1 | c.469C= (p.Gln157=) c.976C= (p.Gln326=) n.2717C= c.919-2118C= (n.919-2118C=) c.554C= (n.554C=) c.493C= (p.Gln165=) c.433C= (p.Gln145=) | |
| 17 | g.61801417G>T | CA400484197 | BRIP1 | c.469C>A (p.Gln157Lys) c.976C>A (p.Gln326Lys) n.2717C>A c.919-2118C>A (n.919-2118C>A) c.554C>A (n.554C>A) c.493C>A (p.Gln165Lys) c.433C>A (p.Gln145Lys) | ClinVar dbSNP |
| 17 | g.61801418T>A | CA400484198 | BRIP1 | c.468A>T (p.Leu156Phe) c.975A>T (p.Leu325Phe) n.2716A>T c.919-2119A>T (n.919-2119A>T) c.553A>T (n.553A>T) c.492A>T (p.Leu164Phe) c.432A>T (p.Leu144Phe) | ClinVar dbSNP gnomAD v4 |
| 17 | g.61801418T>C | CA8690821 | BRIP1 | c.468A>G (p.Leu156=) c.975A>G (p.Leu325=) n.2716A>G c.919-2119A>G (n.919-2119A>G) c.553A>G (n.553A>G) c.492A>G (p.Leu164=) c.432A>G (p.Leu144=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.61801418T>G | CA400484199 | BRIP1 | c.468A>C (p.Leu156Phe) c.975A>C (p.Leu325Phe) n.2716A>C c.919-2119A>C (n.919-2119A>C) c.553A>C (n.553A>C) c.492A>C (p.Leu164Phe) c.432A>C (p.Leu144Phe) | |
| 17 | g.61801418T= | CA2269179623 | BRIP1 | c.468A= (p.Leu156=) c.975A= (p.Leu325=) n.2716A= c.919-2119A= (n.919-2119A=) c.553A= (n.553A=) c.492A= (p.Leu164=) c.432A= (p.Leu144=) | |
| 17 | g.61801419A>C | CA400484202 | BRIP1 | c.467T>G (p.Leu156Ter) c.974T>G (p.Leu325Ter) n.2715T>G c.919-2120T>G (n.919-2120T>G) c.552T>G (n.552T>G) c.491T>G (p.Leu164Ter) c.431T>G (p.Leu144Ter) | |
| 17 | g.61801419A>G | CA400484200 | BRIP1 | c.467T>C (p.Leu156Ser) c.974T>C (p.Leu325Ser) n.2715T>C c.919-2120T>C (n.919-2120T>C) c.552T>C (n.552T>C) c.491T>C (p.Leu164Ser) c.431T>C (p.Leu144Ser) | |
| 17 | g.61801419A>T | CA400484201 | BRIP1 | c.467T>A (p.Leu156Ter) c.974T>A (p.Leu325Ter) n.2715T>A c.919-2120T>A (n.919-2120T>A) c.552T>A (n.552T>A) c.491T>A (p.Leu164Ter) c.431T>A (p.Leu144Ter) | dbSNP |
| 17 | g.61801420A>C | CA400484203 | BRIP1 | c.466T>G (p.Leu156Val) c.973T>G (p.Leu325Val) n.2714T>G c.919-2121T>G (n.919-2121T>G) c.551T>G (n.551T>G) c.490T>G (p.Leu164Val) c.430T>G (p.Leu144Val) | |
| 17 | g.61801420A>G | CA501151971 | BRIP1 | c.466T>C (p.Leu156=) c.973T>C (p.Leu325=) n.2714T>C c.919-2121T>C (n.919-2121T>C) c.551T>C (n.551T>C) c.490T>C (p.Leu164=) c.430T>C (p.Leu144=) | |
| 17 | g.61801420A>T | CA400484204 | BRIP1 | c.466T>A (p.Leu156Ile) c.973T>A (p.Leu325Ile) n.2714T>A c.919-2121T>A (n.919-2121T>A) c.551T>A (n.551T>A) c.490T>A (p.Leu164Ile) c.430T>A (p.Leu144Ile) | dbSNP |
| 17 | g.61801421T>A | CA348074 | BRIP1 | c.465A>T (p.Thr155=) c.972A>T (p.Thr324=) n.2713A>T c.919-2122A>T (n.919-2122A>T) c.550A>T (n.550A>T) c.489A>T (p.Thr163=) c.429A>T (p.Thr143=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.61801421T>C | CA10580850 | BRIP1 | c.465A>G (p.Thr155=) c.972A>G (p.Thr324=) n.2713A>G c.919-2122A>G (n.919-2122A>G) c.550A>G (n.550A>G) c.489A>G (p.Thr163=) c.429A>G (p.Thr143=) | ClinVar dbSNP gnomAD v4 |
| 17 | g.61801421T>G | CA501151972 | BRIP1 | c.465A>C (p.Thr155=) c.972A>C (p.Thr324=) n.2713A>C c.919-2122A>C (n.919-2122A>C) c.550A>C (n.550A>C) c.489A>C (p.Thr163=) c.429A>C (p.Thr143=) | ClinVar dbSNP |
| 17 | g.61801421T= | CA2269179624 | BRIP1 | c.465A= (p.Thr155=) c.972A= (p.Thr324=) n.2713A= c.919-2122A= (n.919-2122A=) c.550A= (n.550A=) c.489A= (p.Thr163=) c.429A= (p.Thr143=) | |
| 17 | g.61801422del | CA2582342225 | BRIP1 | c.464del (p.Thr155AsnfsTer14) c.971del (p.Thr324AsnfsTer14) n.2712del c.919-2123del (n.919-2123del) c.549del (n.549del) c.488del (p.Thr163AsnfsTer14) c.428del (p.Thr143AsnfsTer14) | ClinVar |
| 17 | g.61801422G>A | CA400484205 | BRIP1 | c.464C>T (p.Thr155Ile) c.971C>T (p.Thr324Ile) n.2712C>T c.919-2123C>T (n.919-2123C>T) c.549C>T (n.549C>T) c.488C>T (p.Thr163Ile) c.428C>T (p.Thr143Ile) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
| 17 | g.61801422G>C | CA400484206 | BRIP1 | c.464C>G (p.Thr155Arg) c.971C>G (p.Thr324Arg) n.2712C>G c.919-2123C>G (n.919-2123C>G) c.549C>G (n.549C>G) c.488C>G (p.Thr163Arg) c.428C>G (p.Thr143Arg) | dbSNP |
| 17 | g.61801422G>T | CA400484207 | BRIP1 | c.464C>A (p.Thr155Lys) c.971C>A (p.Thr324Lys) n.2712C>A c.919-2123C>A (n.919-2123C>A) c.549C>A (n.549C>A) c.488C>A (p.Thr163Lys) c.428C>A (p.Thr143Lys) | |
| 17 | g.61801423T>A | CA400484208 | BRIP1 | c.463A>T (p.Thr155Ser) c.970A>T (p.Thr324Ser) n.2711A>T c.919-2124A>T (n.919-2124A>T) c.548A>T (n.548A>T) c.487A>T (p.Thr163Ser) c.427A>T (p.Thr143Ser) | dbSNP gnomAD v4 |
| 17 | g.61801423T>C | CA400484209 | BRIP1 | c.463A>G (p.Thr155Ala) c.970A>G (p.Thr324Ala) n.2711A>G c.919-2124A>G (n.919-2124A>G) c.548A>G (n.548A>G) c.487A>G (p.Thr163Ala) c.427A>G (p.Thr143Ala) | ClinVar dbSNP |
| 17 | g.61801423T>G | CA400484210 | BRIP1 | c.463A>C (p.Thr155Pro) c.970A>C (p.Thr324Pro) n.2711A>C c.919-2124A>C (n.919-2124A>C) c.548A>C (n.548A>C) c.487A>C (p.Thr163Pro) c.427A>C (p.Thr143Pro) | |
| 17 | g.61801423T= | CA2269179625 | BRIP1 | c.463A= (p.Thr155=) c.970A= (p.Thr324=) n.2711A= c.919-2124A= (n.919-2124A=) c.548A= (n.548A=) c.487A= (p.Thr163=) c.427A= (p.Thr143=) | |
| 17 | g.61801424G>A | CA501151973 | BRIP1 | c.462C>T (p.His154=) c.969C>T (p.His323=) n.2710C>T c.919-2125C>T (n.919-2125C>T) c.547C>T (n.547C>T) c.486C>T (p.His162=) c.426C>T (p.His142=) | ClinVar dbSNP |
| 17 | g.61801424G>C | CA400484212 | BRIP1 | c.462C>G (p.His154Gln) c.969C>G (p.His323Gln) n.2710C>G c.919-2125C>G (n.919-2125C>G) c.547C>G (n.547C>G) c.486C>G (p.His162Gln) c.426C>G (p.His142Gln) | ClinVar dbSNP |
| 17 | g.61801424G= | CA2269179626 | BRIP1 | c.462C= (p.His154=) c.969C= (p.His323=) n.2710C= c.919-2125C= (n.919-2125C=) c.547C= (n.547C=) c.486C= (p.His162=) c.426C= (p.His142=) | |
| 17 | g.61801424G>T | CA400484211 | BRIP1 | c.462C>A (p.His154Gln) c.969C>A (p.His323Gln) n.2710C>A c.919-2125C>A (n.919-2125C>A) c.547C>A (n.547C>A) c.486C>A (p.His162Gln) c.426C>A (p.His142Gln) | ClinVar dbSNP |
| 17 | g.61801425T>A | CA400484213 | BRIP1 | c.461A>T (p.His154Leu) c.968A>T (p.His323Leu) n.2709A>T c.919-2126A>T (n.919-2126A>T) c.546A>T (n.546A>T) c.485A>T (p.His162Leu) c.425A>T (p.His142Leu) | dbSNP |
| 17 | g.61801425T>C | CA400484214 | BRIP1 | c.461A>G (p.His154Arg) c.968A>G (p.His323Arg) n.2709A>G c.919-2126A>G (n.919-2126A>G) c.546A>G (n.546A>G) c.485A>G (p.His162Arg) c.425A>G (p.His142Arg) | ClinVar dbSNP gnomAD v4 |
| 17 | g.61801425T>G | CA400484215 | BRIP1 | c.461A>C (p.His154Pro) c.968A>C (p.His323Pro) n.2709A>C c.919-2126A>C (n.919-2126A>C) c.546A>C (n.546A>C) c.485A>C (p.His162Pro) c.425A>C (p.His142Pro) | |
| 17 | g.61801426G>A | CA400484216 | BRIP1 | c.460C>T (p.His154Tyr) c.967C>T (p.His323Tyr) n.2708C>T c.919-2127C>T (n.919-2127C>T) c.545C>T (n.545C>T) c.484C>T (p.His162Tyr) c.424C>T (p.His142Tyr) | ClinVar dbSNP gnomAD v4 |
| 17 | g.61801426G>C | CA400484217 | BRIP1 | c.460C>G (p.His154Asp) c.967C>G (p.His323Asp) n.2708C>G c.919-2127C>G (n.919-2127C>G) c.545C>G (n.545C>G) c.484C>G (p.His162Asp) c.424C>G (p.His142Asp) | dbSNP |
| 17 | g.61801426G= | CA2269179627 | BRIP1 | c.460C= (p.His154=) c.967C= (p.His323=) n.2708C= c.919-2127C= (n.919-2127C=) c.545C= (n.545C=) c.484C= (p.His162=) c.424C= (p.His142=) | |
| 17 | g.61801426G>T | CA400484218 | BRIP1 | c.460C>A (p.His154Asn) c.967C>A (p.His323Asn) n.2708C>A c.919-2127C>A (n.919-2127C>A) c.545C>A (n.545C>A) c.484C>A (p.His162Asn) c.424C>A (p.His142Asn) | |
| 17 | g.61801427C>A | CA400484219 | BRIP1 | c.459G>T (p.Gln153His) c.966G>T (p.Gln322His) n.2707G>T c.919-2128G>T (n.919-2128G>T) c.544G>T (n.544G>T) c.483G>T (p.Gln161His) c.423G>T (p.Gln141His) | dbSNP |
| 17 | g.61801427C>G | CA400484220 | BRIP1 | c.459G>C (p.Gln153His) c.966G>C (p.Gln322His) n.2707G>C c.919-2128G>C (n.919-2128G>C) c.544G>C (n.544G>C) c.483G>C (p.Gln161His) c.423G>C (p.Gln141His) | dbSNP |
| 17 | g.61801427C>T | CA501151974 | BRIP1 | c.459G>A (p.Gln153=) c.966G>A (p.Gln322=) n.2707G>A c.919-2128G>A (n.919-2128G>A) c.544G>A (n.544G>A) c.483G>A (p.Gln161=) c.423G>A (p.Gln141=) | ClinVar dbSNP |
| 17 | g.61801428T>A | CA400484221 | BRIP1 | c.458A>T (p.Gln153Leu) c.965A>T (p.Gln322Leu) n.2706A>T c.919-2129A>T (n.919-2129A>T) c.543A>T (n.543A>T) c.482A>T (p.Gln161Leu) c.422A>T (p.Gln141Leu) | dbSNP |
| 17 | g.61801428T>C | CA400484222 | BRIP1 | c.458A>G (p.Gln153Arg) c.965A>G (p.Gln322Arg) n.2706A>G c.919-2129A>G (n.919-2129A>G) c.543A>G (n.543A>G) c.482A>G (p.Gln161Arg) c.422A>G (p.Gln141Arg) | ClinVar dbSNP |
| 17 | g.61801428T>G | CA400484223 | BRIP1 | c.458A>C (p.Gln153Pro) c.965A>C (p.Gln322Pro) n.2706A>C c.919-2129A>C (n.919-2129A>C) c.543A>C (n.543A>C) c.482A>C (p.Gln161Pro) c.422A>C (p.Gln141Pro) | |
| 17 | g.61801428T= | CA2269179628 | BRIP1 | c.458A= (p.Gln153=) c.965A= (p.Gln322=) n.2706A= c.919-2129A= (n.919-2129A=) c.543A= (n.543A=) c.482A= (p.Gln161=) c.422A= (p.Gln141=) | |
| 17 | g.61801429del | CA2580094631 | BRIP1 | c.457del (p.Gln153SerfsTer16) c.964del (p.Gln322SerfsTer16) n.2705del c.919-2130del (n.919-2130del) c.542del (n.542del) c.481del (p.Gln161SerfsTer16) c.421del (p.Gln141SerfsTer16) | ClinVar |
| 17 | g.61801429G>A | CA157732 | BRIP1 | c.457C>T (p.Gln153Ter) c.964C>T (p.Gln322Ter) n.2705C>T c.919-2130C>T (n.919-2130C>T) c.542C>T (n.542C>T) c.481C>T (p.Gln161Ter) c.421C>T (p.Gln141Ter) | ClinVar dbSNP gnomAD v4 |
| 17 | g.61801429G>C | CA400484224 | BRIP1 | c.457C>G (p.Gln153Glu) c.964C>G (p.Gln322Glu) n.2705C>G c.919-2130C>G (n.919-2130C>G) c.542C>G (n.542C>G) c.481C>G (p.Gln161Glu) c.421C>G (p.Gln141Glu) | dbSNP |
| 17 | g.61801429G= | CA2269179629 | BRIP1 | c.457C= (p.Gln153=) c.964C= (p.Gln322=) n.2705C= c.919-2130C= (n.919-2130C=) c.542C= (n.542C=) c.481C= (p.Gln161=) c.421C= (p.Gln141=) | |
| 17 | g.61801429G>T | CA400484225 | BRIP1 | c.457C>A (p.Gln153Lys) c.964C>A (p.Gln322Lys) n.2705C>A c.919-2130C>A (n.919-2130C>A) c.542C>A (n.542C>A) c.481C>A (p.Gln161Lys) c.421C>A (p.Gln141Lys) | |
| 17 | g.61801430A= | CA2269179630 | BRIP1 | c.456T= (p.Asp152=) c.963T= (p.Asp321=) n.2704T= c.919-2131T= (n.919-2131T=) c.541T= (n.541T=) c.480T= (p.Asp160=) c.420T= (p.Asp140=) | |
| 17 | g.61801430A>C | CA400484226 | BRIP1 | c.456T>G (p.Asp152Glu) c.963T>G (p.Asp321Glu) n.2704T>G c.919-2131T>G (n.919-2131T>G) c.541T>G (n.541T>G) c.480T>G (p.Asp160Glu) c.420T>G (p.Asp140Glu) | dbSNP |
| 17 | g.61801430A>G | CA501151975 | BRIP1 | c.456T>C (p.Asp152=) c.963T>C (p.Asp321=) n.2704T>C c.919-2131T>C (n.919-2131T>C) c.541T>C (n.541T>C) c.480T>C (p.Asp160=) c.420T>C (p.Asp140=) | |
| 17 | g.61801430A>T | CA400484227 | BRIP1 | c.456T>A (p.Asp152Glu) c.963T>A (p.Asp321Glu) n.2704T>A c.919-2131T>A (n.919-2131T>A) c.541T>A (n.541T>A) c.480T>A (p.Asp160Glu) c.420T>A (p.Asp140Glu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.61801431T>A | CA400484228 | BRIP1 | c.455A>T (p.Asp152Val) c.962A>T (p.Asp321Val) n.2703A>T c.919-2132A>T (n.919-2132A>T) c.540A>T (n.540A>T) c.479A>T (p.Asp160Val) c.419A>T (p.Asp140Val) | dbSNP |
| 17 | g.61801431T>C | CA400484229 | BRIP1 | c.455A>G (p.Asp152Gly) c.962A>G (p.Asp321Gly) n.2703A>G c.919-2132A>G (n.919-2132A>G) c.540A>G (n.540A>G) c.479A>G (p.Asp160Gly) c.419A>G (p.Asp140Gly) | ClinVar dbSNP |
| 17 | g.61801431T>G | CA400484230 | BRIP1 | c.455A>C (p.Asp152Ala) c.962A>C (p.Asp321Ala) n.2703A>C c.919-2132A>C (n.919-2132A>C) c.540A>C (n.540A>C) c.479A>C (p.Asp160Ala) c.419A>C (p.Asp140Ala) | |
| 17 | g.61801431T= | CA2269179631 | BRIP1 | c.455A= (p.Asp152=) c.962A= (p.Asp321=) n.2703A= c.919-2132A= (n.919-2132A=) c.540A= (n.540A=) c.479A= (p.Asp160=) c.419A= (p.Asp140=) | |
| 17 | g.61801432C>A | CA400484231 | BRIP1 | c.454G>T (p.Asp152Tyr) c.961G>T (p.Asp321Tyr) n.2702G>T c.919-2133G>T (n.919-2133G>T) c.539G>T (n.539G>T) c.478G>T (p.Asp160Tyr) c.418G>T (p.Asp140Tyr) | |
| 17 | g.61801432C= | CA2269179632 | BRIP1 | c.454G= (p.Asp152=) c.961G= (p.Asp321=) n.2702G= c.919-2133G= (n.919-2133G=) c.539G= (n.539G=) c.478G= (p.Asp160=) c.418G= (p.Asp140=) | |
| 17 | g.61801432C>G | CA400484232 | BRIP1 | c.454G>C (p.Asp152His) c.961G>C (p.Asp321His) n.2702G>C c.919-2133G>C (n.919-2133G>C) c.539G>C (n.539G>C) c.478G>C (p.Asp160His) c.418G>C (p.Asp140His) | ClinVar dbSNP |
| 17 | g.61801432C>T | CA400484233 | BRIP1 | c.454G>A (p.Asp152Asn) c.961G>A (p.Asp321Asn) n.2702G>A c.919-2133G>A (n.919-2133G>A) c.539G>A (n.539G>A) c.478G>A (p.Asp160Asn) c.418G>A (p.Asp140Asn) | ClinVar dbSNP |
| 17 | g.61801433A>C | CA400484234 | BRIP1 | c.453T>G (p.Ser151Arg) c.960T>G (p.Ser320Arg) n.2701T>G c.919-2134T>G (n.919-2134T>G) c.538T>G (n.538T>G) c.477T>G (p.Ser159Arg) c.417T>G (p.Ser139Arg) | |
| 17 | g.61801433A>G | CA501151976 | BRIP1 | c.453T>C (p.Ser151=) c.960T>C (p.Ser320=) n.2701T>C c.919-2134T>C (n.919-2134T>C) c.538T>C (n.538T>C) c.477T>C (p.Ser159=) c.417T>C (p.Ser139=) | |
| 17 | g.61801433A>T | CA400484235 | BRIP1 | c.453T>A (p.Ser151Arg) c.960T>A (p.Ser320Arg) n.2701T>A c.919-2134T>A (n.919-2134T>A) c.538T>A (n.538T>A) c.477T>A (p.Ser159Arg) c.417T>A (p.Ser139Arg) | dbSNP |
| 17 | g.61801434C>A | CA400484236 | BRIP1 | c.452G>T (p.Ser151Ile) c.959G>T (p.Ser320Ile) n.2700G>T c.919-2135G>T (n.919-2135G>T) c.537G>T (n.537G>T) c.476G>T (p.Ser159Ile) c.416G>T (p.Ser139Ile) | dbSNP |
| 17 | g.61801434C= | CA2269179633 | BRIP1 | c.452G= (p.Ser151=) c.959G= (p.Ser320=) n.2700G= c.919-2135G= (n.919-2135G=) c.537G= (n.537G=) c.476G= (p.Ser159=) c.416G= (p.Ser139=) | |
| 17 | g.61801434C>G | CA400484237 | BRIP1 | c.452G>C (p.Ser151Thr) c.959G>C (p.Ser320Thr) n.2700G>C c.919-2135G>C (n.919-2135G>C) c.537G>C (n.537G>C) c.476G>C (p.Ser159Thr) c.416G>C (p.Ser139Thr) | dbSNP COSMIC COSMIC |
| 17 | g.61801434C>T | CA8690822 | BRIP1 | c.452G>A (p.Ser151Asn) c.959G>A (p.Ser320Asn) n.2700G>A c.919-2135G>A (n.919-2135G>A) c.537G>A (n.537G>A) c.476G>A (p.Ser159Asn) c.416G>A (p.Ser139Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.61801434_61801435delinsCT | CA2269179634 | BRIP1 | c.451_452delinsAG (p.Ser151=) c.958_959delinsAG (p.Ser320=) n.2699_2700delinsAG c.919-2136_919-2135delinsAG (n.919-2136_919-2135delinsAG) c.536_537delinsAG (n.536_537delinsAG) c.475_476delinsAG (p.Ser159=) c.415_416delinsAG (p.Ser139=) | |
| 17 | g.61801435del | CA349150 | BRIP1 | c.451del (p.Ser151ValfsTer18) c.958del (p.Ser320ValfsTer18) n.2699del c.919-2136del (n.919-2136del) c.536del (n.536del) c.475del (p.Ser159ValfsTer18) c.415del (p.Ser139ValfsTer18) | ClinVar dbSNP |
| 17 | g.61801435T>A | CA400484239 | BRIP1 | c.451A>T (p.Ser151Cys) c.958A>T (p.Ser320Cys) n.2699A>T c.919-2136A>T (n.919-2136A>T) c.536A>T (n.536A>T) c.475A>T (p.Ser159Cys) c.415A>T (p.Ser139Cys) | dbSNP |
| 17 | g.61801435T>C | CA400484240 | BRIP1 | c.451A>G (p.Ser151Gly) c.958A>G (p.Ser320Gly) n.2699A>G c.919-2136A>G (n.919-2136A>G) c.536A>G (n.536A>G) c.475A>G (p.Ser159Gly) c.415A>G (p.Ser139Gly) | ClinVar dbSNP gnomAD v4 |
| 17 | g.61801435T>G | CA400484238 | BRIP1 | c.451A>C (p.Ser151Arg) c.958A>C (p.Ser320Arg) n.2699A>C c.919-2136A>C (n.919-2136A>C) c.536A>C (n.536A>C) c.475A>C (p.Ser159Arg) c.415A>C (p.Ser139Arg) | |
| 17 | g.61801436A>C | CA400484241 | BRIP1 | c.450T>G (p.Ile150Met) c.957T>G (p.Ile319Met) n.2698T>G c.919-2137T>G (n.919-2137T>G) c.535T>G (n.535T>G) c.474T>G (p.Ile158Met) c.414T>G (p.Ile138Met) | |
| 17 | g.61801436A>G | CA501151977 | BRIP1 | c.450T>C (p.Ile150=) c.957T>C (p.Ile319=) n.2698T>C c.919-2137T>C (n.919-2137T>C) c.535T>C (n.535T>C) c.474T>C (p.Ile158=) c.414T>C (p.Ile138=) | ClinVar |
| 17 | g.61801436A>T | CA501151978 | BRIP1 | c.450T>A (p.Ile150=) c.957T>A (p.Ile319=) n.2698T>A c.919-2137T>A (n.919-2137T>A) c.535T>A (n.535T>A) c.474T>A (p.Ile158=) c.414T>A (p.Ile138=) | dbSNP |
| 17 | g.61801437A>C | CA400484242 | BRIP1 | c.449T>G (p.Ile150Ser) c.956T>G (p.Ile319Ser) n.2697T>G c.919-2138T>G (n.919-2138T>G) c.534T>G (n.534T>G) c.473T>G (p.Ile158Ser) c.413T>G (p.Ile138Ser) | |
| 17 | g.61801437A>G | CA400484243 | BRIP1 | c.449T>C (p.Ile150Thr) c.956T>C (p.Ile319Thr) n.2697T>C c.919-2138T>C (n.919-2138T>C) c.534T>C (n.534T>C) c.473T>C (p.Ile158Thr) c.413T>C (p.Ile138Thr) | |
| 17 | g.61801437A>T | CA400484244 | BRIP1 | c.449T>A (p.Ile150Asn) c.956T>A (p.Ile319Asn) n.2697T>A c.919-2138T>A (n.919-2138T>A) c.534T>A (n.534T>A) c.473T>A (p.Ile158Asn) c.413T>A (p.Ile138Asn) | |
| 17 | g.61801438T>A | CA400484245 | BRIP1 | c.448A>T (p.Ile150Phe) c.955A>T (p.Ile319Phe) n.2696A>T c.919-2139A>T (n.919-2139A>T) c.533A>T (n.533A>T) c.472A>T (p.Ile158Phe) c.412A>T (p.Ile138Phe) | dbSNP |
| 17 | g.61801438T>C | CA400484246 | BRIP1 | c.448A>G (p.Ile150Val) c.955A>G (p.Ile319Val) n.2696A>G c.919-2139A>G (n.919-2139A>G) c.533A>G (n.533A>G) c.472A>G (p.Ile158Val) c.412A>G (p.Ile138Val) | |
| 17 | g.61801438T>G | CA400484247 | BRIP1 | c.448A>C (p.Ile150Leu) c.955A>C (p.Ile319Leu) n.2696A>C c.919-2139A>C (n.919-2139A>C) c.533A>C (n.533A>C) c.472A>C (p.Ile158Leu) c.412A>C (p.Ile138Leu) | |
| 17 | g.61801439T>A | CA400484248 | BRIP1 | c.447A>T (p.Lys149Asn) c.954A>T (p.Lys318Asn) n.2695A>T c.919-2140A>T (n.919-2140A>T) c.532A>T (n.532A>T) c.471A>T (p.Lys157Asn) c.411A>T (p.Lys137Asn) | |
| 17 | g.61801439T>C | CA501151979 | BRIP1 | c.447A>G (p.Lys149=) c.954A>G (p.Lys318=) n.2695A>G c.919-2140A>G (n.919-2140A>G) c.532A>G (n.532A>G) c.471A>G (p.Lys157=) c.411A>G (p.Lys137=) | |
| 17 | g.61801439T>G | CA400484249 | BRIP1 | c.447A>C (p.Lys149Asn) c.954A>C (p.Lys318Asn) n.2695A>C c.919-2140A>C (n.919-2140A>C) c.532A>C (n.532A>C) c.471A>C (p.Lys157Asn) c.411A>C (p.Lys137Asn) | dbSNP |
| 17 | g.61801439T= | CA2269179635 | BRIP1 | c.447A= (p.Lys149=) c.954A= (p.Lys318=) n.2695A= c.919-2140A= (n.919-2140A=) c.532A= (n.532A=) c.471A= (p.Lys157=) c.411A= (p.Lys137=) | |
| 17 | g.61801440T>A | CA400484250 | BRIP1 | c.446A>T (p.Lys149Ile) c.953A>T (p.Lys318Ile) n.2694A>T c.919-2141A>T (n.919-2141A>T) c.531A>T (n.531A>T) c.470A>T (p.Lys157Ile) c.410A>T (p.Lys137Ile) | |
| 17 | g.61801440T>C | CA400484251 | BRIP1 | c.446A>G (p.Lys149Arg) c.953A>G (p.Lys318Arg) n.2694A>G c.919-2141A>G (n.919-2141A>G) c.531A>G (n.531A>G) c.470A>G (p.Lys157Arg) c.410A>G (p.Lys137Arg) | ClinVar dbSNP |
| 17 | g.61801440T>G | CA400484252 | BRIP1 | c.446A>C (p.Lys149Thr) c.953A>C (p.Lys318Thr) n.2694A>C c.919-2141A>C (n.919-2141A>C) c.531A>C (n.531A>C) c.470A>C (p.Lys157Thr) c.410A>C (p.Lys137Thr) | |
| 17 | g.61801440T= | CA2269179636 | BRIP1 | c.446A= (p.Lys149=) c.953A= (p.Lys318=) n.2694A= c.919-2141A= (n.919-2141A=) c.531A= (n.531A=) c.470A= (p.Lys157=) c.410A= (p.Lys137=) | |
| 17 | g.61801441T>A | CA400484255 | BRIP1 | c.445A>T (p.Lys149Ter) c.952A>T (p.Lys318Ter) n.2693A>T c.919-2142A>T (n.919-2142A>T) c.530A>T (n.530A>T) c.469A>T (p.Lys157Ter) c.409A>T (p.Lys137Ter) | dbSNP |
| 17 | g.61801441T>C | CA400484254 | BRIP1 | c.445A>G (p.Lys149Glu) c.952A>G (p.Lys318Glu) n.2693A>G c.919-2142A>G (n.919-2142A>G) c.530A>G (n.530A>G) c.469A>G (p.Lys157Glu) c.409A>G (p.Lys137Glu) | |
| 17 | g.61801441T>G | CA400484253 | BRIP1 | c.445A>C (p.Lys149Gln) c.952A>C (p.Lys318Gln) n.2693A>C c.919-2142A>C (n.919-2142A>C) c.530A>C (n.530A>C) c.469A>C (p.Lys157Gln) c.409A>C (p.Lys137Gln) | |
| 17 | g.61801442A= | CA2269179637 | BRIP1 | c.444T= (p.His148=) c.951T= (p.His317=) n.2692T= c.919-2143T= (n.919-2143T=) c.529T= (n.529T=) c.468T= (p.His156=) c.408T= (p.His136=) | |
| 17 | g.61801442A>C | CA400484256 | BRIP1 | c.444T>G (p.His148Gln) c.951T>G (p.His317Gln) n.2692T>G c.919-2143T>G (n.919-2143T>G) c.529T>G (n.529T>G) c.468T>G (p.His156Gln) c.408T>G (p.His136Gln) | |
| 17 | g.61801442A>G | CA501151980 | BRIP1 | c.444T>C (p.His148=) c.951T>C (p.His317=) n.2692T>C c.919-2143T>C (n.919-2143T>C) c.529T>C (n.529T>C) c.468T>C (p.His156=) c.408T>C (p.His136=) | ClinVar dbSNP |
| 17 | g.61801442A>T | CA400484257 | BRIP1 | c.444T>A (p.His148Gln) c.951T>A (p.His317Gln) n.2692T>A c.919-2143T>A (n.919-2143T>A) c.529T>A (n.529T>A) c.468T>A (p.His156Gln) c.408T>A (p.His136Gln) | dbSNP |
| 17 | g.61801443T>A | CA400484258 | BRIP1 | c.443A>T (p.His148Leu) c.950A>T (p.His317Leu) n.2691A>T c.919-2144A>T (n.919-2144A>T) c.528A>T (n.528A>T) c.467A>T (p.His156Leu) c.407A>T (p.His136Leu) | dbSNP COSMIC COSMIC |
| 17 | g.61801443T>C | CA400484259 | BRIP1 | c.443A>G (p.His148Arg) c.950A>G (p.His317Arg) n.2691A>G c.919-2144A>G (n.919-2144A>G) c.528A>G (n.528A>G) c.467A>G (p.His156Arg) c.407A>G (p.His136Arg) | |
| 17 | g.61801443T>G | CA400484260 | BRIP1 | c.443A>C (p.His148Pro) c.950A>C (p.His317Pro) n.2691A>C c.919-2144A>C (n.919-2144A>C) c.528A>C (n.528A>C) c.467A>C (p.His156Pro) c.407A>C (p.His136Pro) | |
| 17 | g.61801444G>A | CA400484261 | BRIP1 | c.442C>T (p.His148Tyr) c.949C>T (p.His317Tyr) n.2690C>T c.919-2145C>T (n.919-2145C>T) c.527C>T (n.527C>T) c.466C>T (p.His156Tyr) c.406C>T (p.His136Tyr) | ClinVar dbSNP COSMIC COSMIC |
| 17 | g.61801444G>C | CA400484262 | BRIP1 | c.442C>G (p.His148Asp) c.949C>G (p.His317Asp) n.2690C>G c.919-2145C>G (n.919-2145C>G) c.527C>G (n.527C>G) c.466C>G (p.His156Asp) c.406C>G (p.His136Asp) | ClinVar dbSNP |
| 17 | g.61801444G>T | CA400484263 | BRIP1 | c.442C>A (p.His148Asn) c.949C>A (p.His317Asn) n.2690C>A c.919-2145C>A (n.919-2145C>A) c.527C>A (n.527C>A) c.466C>A (p.His156Asn) c.406C>A (p.His136Asn) | |
| 17 | g.61801445A>C | CA501151981 | BRIP1 | c.441T>G (p.Val147=) c.948T>G (p.Val316=) n.2689T>G c.919-2146T>G (n.919-2146T>G) c.526T>G (n.526T>G) c.465T>G (p.Val155=) c.405T>G (p.Val135=) | |
| 17 | g.61801445A>G | CA501151982 | BRIP1 | c.441T>C (p.Val147=) c.948T>C (p.Val316=) n.2689T>C c.919-2146T>C (n.919-2146T>C) c.526T>C (n.526T>C) c.465T>C (p.Val155=) c.405T>C (p.Val135=) | |
| 17 | g.61801445A>T | CA501151983 | BRIP1 | c.441T>A (p.Val147=) c.948T>A (p.Val316=) n.2689T>A c.919-2146T>A (n.919-2146T>A) c.526T>A (n.526T>A) c.465T>A (p.Val155=) c.405T>A (p.Val135=) | dbSNP |
| 17 | g.61801446del | CA2582342227 | BRIP1 | c.441del (p.His148IlefsTer21) c.948del (p.His317IlefsTer21) n.2689del c.919-2146del (n.919-2146del) c.526del (n.526del) c.465del (p.His156IlefsTer21) c.405del (p.His136IlefsTer21) | ClinVar |
| 17 | g.61801446A>C | CA400484264 | BRIP1 | c.440T>G (p.Val147Gly) c.947T>G (p.Val316Gly) n.2688T>G c.919-2147T>G (n.919-2147T>G) c.525T>G (n.525T>G) c.464T>G (p.Val155Gly) c.404T>G (p.Val135Gly) | |
| 17 | g.61801446A>G | CA400484265 | BRIP1 | c.440T>C (p.Val147Ala) c.947T>C (p.Val316Ala) n.2688T>C c.919-2147T>C (n.919-2147T>C) c.525T>C (n.525T>C) c.464T>C (p.Val155Ala) c.404T>C (p.Val135Ala) | |
| 17 | g.61801446A>T | CA400484266 | BRIP1 | c.440T>A (p.Val147Asp) c.947T>A (p.Val316Asp) n.2688T>A c.919-2147T>A (n.919-2147T>A) c.525T>A (n.525T>A) c.464T>A (p.Val155Asp) c.404T>A (p.Val135Asp) | dbSNP |
| 17 | g.61801447C>A | CA400484267 | BRIP1 | c.439G>T (p.Val147Phe) c.946G>T (p.Val316Phe) n.2687G>T c.919-2148G>T (n.919-2148G>T) c.524G>T (n.524G>T) c.463G>T (p.Val155Phe) c.403G>T (p.Val135Phe) | |
| 17 | g.61801447C>G | CA400484268 | BRIP1 | c.439G>C (p.Val147Leu) c.946G>C (p.Val316Leu) n.2687G>C c.919-2148G>C (n.919-2148G>C) c.524G>C (n.524G>C) c.463G>C (p.Val155Leu) c.403G>C (p.Val135Leu) | dbSNP |
| 17 | g.61801447C>T | CA400484269 | BRIP1 | c.439G>A (p.Val147Ile) c.946G>A (p.Val316Ile) n.2687G>A c.919-2148G>A (n.919-2148G>A) c.524G>A (n.524G>A) c.463G>A (p.Val155Ile) c.403G>A (p.Val135Ile) | dbSNP gnomAD v4 |
| 17 | g.61801448T>A | CA501151984 | BRIP1 | c.438A>T (p.Gly146=) c.945A>T (p.Gly315=) n.2686A>T c.919-2149A>T (n.919-2149A>T) c.523A>T (n.523A>T) c.462A>T (p.Gly154=) c.402A>T (p.Gly134=) | ClinVar dbSNP |
| 17 | g.61801448T>C | CA501151985 | BRIP1 | c.438A>G (p.Gly146=) c.945A>G (p.Gly315=) n.2686A>G c.919-2149A>G (n.919-2149A>G) c.523A>G (n.523A>G) c.462A>G (p.Gly154=) c.402A>G (p.Gly134=) | ClinVar |
| 17 | g.61801448T>G | CA501151986 | BRIP1 | c.438A>C (p.Gly146=) c.945A>C (p.Gly315=) n.2686A>C c.919-2149A>C (n.919-2149A>C) c.523A>C (n.523A>C) c.462A>C (p.Gly154=) c.402A>C (p.Gly134=) | |
| 17 | g.61801449C>A | CA400484270 | BRIP1 | c.437G>T (p.Gly146Val) c.944G>T (p.Gly315Val) n.2685G>T c.919-2150G>T (n.919-2150G>T) c.522G>T (n.522G>T) c.461G>T (p.Gly154Val) c.401G>T (p.Gly134Val) | ClinVar dbSNP gnomAD v4 |
| 17 | g.61801449C= | CA2269179638 | BRIP1 | c.437G= (p.Gly146=) c.944G= (p.Gly315=) n.2685G= c.919-2150G= (n.919-2150G=) c.522G= (n.522G=) c.461G= (p.Gly154=) c.401G= (p.Gly134=) | |
| 17 | g.61801449C>G | CA400484271 | BRIP1 | c.437G>C (p.Gly146Ala) c.944G>C (p.Gly315Ala) n.2685G>C c.919-2150G>C (n.919-2150G>C) c.522G>C (n.522G>C) c.461G>C (p.Gly154Ala) c.401G>C (p.Gly134Ala) | ClinVar dbSNP |
| 17 | g.61801449C>T | CA292286123 | BRIP1 | c.437G>A (p.Gly146Glu) c.944G>A (p.Gly315Glu) n.2685G>A c.919-2150G>A (n.919-2150G>A) c.522G>A (n.522G>A) c.461G>A (p.Gly154Glu) c.401G>A (p.Gly134Glu) | ClinVar dbSNP |
| 17 | g.61801450C>A | CA400484272 | BRIP1 | c.436G>T (p.Gly146Ter) c.943G>T (p.Gly315Ter) n.2684G>T c.919-2151G>T (n.919-2151G>T) c.521G>T (n.521G>T) c.460G>T (p.Gly154Ter) c.400G>T (p.Gly134Ter) | dbSNP |
| 17 | g.61801450C= | CA2269179640 | BRIP1 | c.436G= (p.Gly146=) c.943G= (p.Gly315=) n.2684G= c.919-2151G= (n.919-2151G=) c.521G= (n.521G=) c.460G= (p.Gly154=) c.400G= (p.Gly134=) | |
| 17 | g.61801450C>G | CA400484273 | BRIP1 | c.436G>C (p.Gly146Arg) c.943G>C (p.Gly315Arg) n.2684G>C c.919-2151G>C (n.919-2151G>C) c.521G>C (n.521G>C) c.460G>C (p.Gly154Arg) c.400G>C (p.Gly134Arg) | dbSNP |
| 17 | g.61801450C>T | CA400484274 | BRIP1 | c.436G>A (p.Gly146Arg) c.943G>A (p.Gly315Arg) n.2684G>A c.919-2151G>A (n.919-2151G>A) c.521G>A (n.521G>A) c.460G>A (p.Gly154Arg) c.400G>A (p.Gly134Arg) | ClinVar dbSNP |
| 17 | g.61801450_61801451delinsCA | CA2269179639 | BRIP1 | c.435_436delinsTG (p.His145=) c.942_943delinsTG (p.His314=) n.2683_2684delinsTG c.919-2152_919-2151delinsTG (n.919-2152_919-2151delinsTG) c.520_521delinsTG (n.520_521delinsTG) c.459_460delinsTG (p.His153=) c.399_400delinsTG (p.His133=) | |
| 17 | g.61801451del | CA913187833 | BRIP1 | c.435del (p.His145GlnfsTer24) c.942del (p.His314GlnfsTer24) n.2683del c.919-2152del (n.919-2152del) c.520del (n.520del) c.459del (p.His153GlnfsTer24) c.399del (p.His133GlnfsTer24) | ClinVar dbSNP |
| 17 | g.61801451A>C | CA400484275 | BRIP1 | c.435T>G (p.His145Gln) c.942T>G (p.His314Gln) n.2683T>G c.919-2152T>G (n.919-2152T>G) c.520T>G (n.520T>G) c.459T>G (p.His153Gln) c.399T>G (p.His133Gln) | |
| 17 | g.61801451A>G | CA501151987 | BRIP1 | c.435T>C (p.His145=) c.942T>C (p.His314=) n.2683T>C c.919-2152T>C (n.919-2152T>C) c.520T>C (n.520T>C) c.459T>C (p.His153=) c.399T>C (p.His133=) | ClinVar dbSNP |
| 17 | g.61801451A>T | CA400484276 | BRIP1 | c.435T>A (p.His145Gln) c.942T>A (p.His314Gln) n.2683T>A c.919-2152T>A (n.919-2152T>A) c.520T>A (n.520T>A) c.459T>A (p.His153Gln) c.399T>A (p.His133Gln) | |
| 17 | g.61801452T>A | CA400484277 | BRIP1 | c.434A>T (p.His145Leu) c.941A>T (p.His314Leu) n.2682A>T c.919-2153A>T (n.919-2153A>T) c.519A>T (n.519A>T) c.458A>T (p.His153Leu) c.398A>T (p.His133Leu) | |
| 17 | g.61801452T>C | CA292286125 | BRIP1 | c.434A>G (p.His145Arg) c.941A>G (p.His314Arg) n.2682A>G c.919-2153A>G (n.919-2153A>G) c.519A>G (n.519A>G) c.458A>G (p.His153Arg) c.398A>G (p.His133Arg) | ClinVar dbSNP gnomAD v4 |
| 17 | g.61801452T>G | CA400484278 | BRIP1 | c.434A>C (p.His145Pro) c.941A>C (p.His314Pro) n.2682A>C c.919-2153A>C (n.919-2153A>C) c.519A>C (n.519A>C) c.458A>C (p.His153Pro) c.398A>C (p.His133Pro) | |
| 17 | g.61801452T= | CA2269179641 | BRIP1 | c.434A= (p.His145=) c.941A= (p.His314=) n.2682A= c.919-2153A= (n.919-2153A=) c.519A= (n.519A=) c.458A= (p.His153=) c.398A= (p.His133=) | |
| 17 | g.61801453del | CA2733897069 | BRIP1 | c.433del (p.His145MetfsTer24) c.940del (p.His314MetfsTer24) n.2681del c.919-2154del (n.919-2154del) c.518del (n.518del) c.457del (p.His153MetfsTer24) c.397del (p.His133MetfsTer24) | dbSNP |
| 17 | g.61801453G>A | CA400484279 | BRIP1 | c.433C>T (p.His145Tyr) c.940C>T (p.His314Tyr) n.2681C>T c.919-2154C>T (n.919-2154C>T) c.518C>T (n.518C>T) c.457C>T (p.His153Tyr) c.397C>T (p.His133Tyr) | ClinVar dbSNP |
| 17 | g.61801453G>C | CA400484280 | BRIP1 | c.433C>G (p.His145Asp) c.940C>G (p.His314Asp) n.2681C>G c.919-2154C>G (n.919-2154C>G) c.518C>G (n.518C>G) c.457C>G (p.His153Asp) c.397C>G (p.His133Asp) | dbSNP |
| 17 | g.61801453G>T | CA400484281 | BRIP1 | c.433C>A (p.His145Asn) c.940C>A (p.His314Asn) n.2681C>A c.919-2154C>A (n.919-2154C>A) c.518C>A (n.518C>A) c.457C>A (p.His153Asn) c.397C>A (p.His133Asn) |