WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| 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.61801348C>A | CA10580847 | BRIP1 | c.538G>T (p.Ala180Ser) c.1045G>T (p.Ala349Ser) n.2786G>T c.919-2049G>T (n.919-2049G>T) c.623G>T (n.623G>T) c.562G>T (p.Ala188Ser) c.502G>T (p.Ala168Ser) | ClinVar dbSNP gnomAD v4 |
| 17 | g.61801348C= | CA2269179580 | BRIP1 | c.538G= (p.Ala180=) c.1045G= (p.Ala349=) n.2786G= c.919-2049G= (n.919-2049G=) c.623G= (n.623G=) c.562G= (p.Ala188=) c.502G= (p.Ala168=) | |
| 17 | g.61801348C>G | CA157735 | BRIP1 | c.538G>C (p.Ala180Pro) c.1045G>C (p.Ala349Pro) n.2786G>C c.919-2049G>C (n.919-2049G>C) c.623G>C (n.623G>C) c.562G>C (p.Ala188Pro) c.502G>C (p.Ala168Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.61801348C>T | CA16607753 | BRIP1 | c.538G>A (p.Ala180Thr) c.1045G>A (p.Ala349Thr) n.2786G>A c.919-2049G>A (n.919-2049G>A) c.623G>A (n.623G>A) c.562G>A (p.Ala188Thr) c.502G>A (p.Ala168Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.61801349C>A | CA400484047 | BRIP1 | c.537G>T (p.Lys179Asn) c.1044G>T (p.Lys348Asn) n.2785G>T c.919-2050G>T (n.919-2050G>T) c.622G>T (n.622G>T) c.561G>T (p.Lys187Asn) c.501G>T (p.Lys167Asn) | |
| 17 | g.61801349C>G | CA400484048 | BRIP1 | c.537G>C (p.Lys179Asn) c.1044G>C (p.Lys348Asn) n.2785G>C c.919-2050G>C (n.919-2050G>C) c.622G>C (n.622G>C) c.561G>C (p.Lys187Asn) c.501G>C (p.Lys167Asn) | |
| 17 | g.61801349C>T | CA501151895 | BRIP1 | c.537G>A (p.Lys179=) c.1044G>A (p.Lys348=) n.2785G>A c.919-2050G>A (n.919-2050G>A) c.622G>A (n.622G>A) c.561G>A (p.Lys187=) c.501G>A (p.Lys167=) | |
| 17 | g.61801350T>A | CA400484050 | BRIP1 | c.536A>T (p.Lys179Met) c.1043A>T (p.Lys348Met) n.2784A>T c.919-2051A>T (n.919-2051A>T) c.621A>T (n.621A>T) c.560A>T (p.Lys187Met) c.500A>T (p.Lys167Met) | dbSNP |
| 17 | g.61801350T>C | CA400484051 | BRIP1 | c.536A>G (p.Lys179Arg) c.1043A>G (p.Lys348Arg) n.2784A>G c.919-2051A>G (n.919-2051A>G) c.621A>G (n.621A>G) c.560A>G (p.Lys187Arg) c.500A>G (p.Lys167Arg) | |
| 17 | g.61801350T>G | CA400484049 | BRIP1 | c.536A>C (p.Lys179Thr) c.1043A>C (p.Lys348Thr) n.2784A>C c.919-2051A>C (n.919-2051A>C) c.621A>C (n.621A>C) c.560A>C (p.Lys187Thr) c.500A>C (p.Lys167Thr) | |
| 17 | g.61801352del | CA2580094630 | BRIP1 | c.536del (p.Lys179ArgfsTer11) c.1043del (p.Lys348ArgfsTer11) n.2784del c.919-2051del (n.919-2051del) c.621del (n.621del) c.560del (p.Lys187ArgfsTer11) c.500del (p.Lys167ArgfsTer11) | ClinVar |
| 17 | g.61801351T>A | CA400484052 | BRIP1 | c.535A>T (p.Lys179Ter) c.1042A>T (p.Lys348Ter) n.2783A>T c.919-2052A>T (n.919-2052A>T) c.620A>T (n.620A>T) c.559A>T (p.Lys187Ter) c.499A>T (p.Lys167Ter) | dbSNP |
| 17 | g.61801351T>C | CA400484053 | BRIP1 | c.535A>G (p.Lys179Glu) c.1042A>G (p.Lys348Glu) n.2783A>G c.919-2052A>G (n.919-2052A>G) c.620A>G (n.620A>G) c.559A>G (p.Lys187Glu) c.499A>G (p.Lys167Glu) | dbSNP |
| 17 | g.61801351T>G | CA400484054 | BRIP1 | c.535A>C (p.Lys179Gln) c.1042A>C (p.Lys348Gln) n.2783A>C c.919-2052A>C (n.919-2052A>C) c.620A>C (n.620A>C) c.559A>C (p.Lys187Gln) c.499A>C (p.Lys167Gln) | dbSNP |
| 17 | g.61801352T>A | CA501151902 | BRIP1 | c.534A>T (p.Leu178=) c.1041A>T (p.Leu347=) n.2782A>T c.919-2053A>T (n.919-2053A>T) c.619A>T (n.619A>T) c.558A>T (p.Leu186=) c.498A>T (p.Leu166=) | dbSNP |
| 17 | g.61801352T>C | CA501151899 | BRIP1 | c.534A>G (p.Leu178=) c.1041A>G (p.Leu347=) n.2782A>G c.919-2053A>G (n.919-2053A>G) c.619A>G (n.619A>G) c.558A>G (p.Leu186=) c.498A>G (p.Leu166=) | ClinVar dbSNP gnomAD v4 |
| 17 | g.61801352T>G | CA501151901 | BRIP1 | c.534A>C (p.Leu178=) c.1041A>C (p.Leu347=) n.2782A>C c.919-2053A>C (n.919-2053A>C) c.619A>C (n.619A>C) c.558A>C (p.Leu186=) c.498A>C (p.Leu166=) | |
| 17 | g.61801352T= | CA2269179581 | BRIP1 | c.534A= (p.Leu178=) c.1041A= (p.Leu347=) n.2782A= c.919-2053A= (n.919-2053A=) c.619A= (n.619A=) c.558A= (p.Leu186=) c.498A= (p.Leu166=) | |
| 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.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.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 |