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.61847160C>A | CA400483074 | BRIP1 | c.568G>T (p.Gly190Ter) c.61G>T (p.Gly21Ter) n.2309G>T c.*56G>T (n.*56G>T) c.85G>T (p.Gly29Ter) | ClinVar dbSNP |
| 17 | g.61847160C>G | CA400483072 | BRIP1 | c.568G>C (p.Gly190Arg) c.61G>C (p.Gly21Arg) n.2309G>C c.*56G>C (n.*56G>C) c.85G>C (p.Gly29Arg) | ClinVar dbSNP |
| 17 | g.61847160C>T | CA400483076 | BRIP1 | c.568G>A (p.Gly190Arg) c.61G>A (p.Gly21Arg) n.2309G>A c.*56G>A (n.*56G>A) c.85G>A (p.Gly29Arg) | ClinVar dbSNP |
| 17 | g.61847161T>A | CA501150641 | BRIP1 | c.567A>T (p.Ser189=) c.60A>T (p.Ser20=) n.2308A>T c.*55A>T (n.*55A>T) c.84A>T (p.Ser28=) | dbSNP |
| 17 | g.61847161T>C | CA501150642 | BRIP1 | c.567A>G (p.Ser189=) c.60A>G (p.Ser20=) n.2308A>G c.*55A>G (n.*55A>G) c.84A>G (p.Ser28=) | dbSNP |
| 17 | g.61847161T>G | CA501150643 | BRIP1 | c.567A>C (p.Ser189=) c.60A>C (p.Ser20=) n.2308A>C c.*55A>C (n.*55A>C) c.84A>C (p.Ser28=) | |
| 17 | g.61847162G>A | CA400483079 | BRIP1 | c.566C>T (p.Ser189Leu) c.59C>T (p.Ser20Leu) n.2307C>T c.*54C>T (n.*54C>T) c.83C>T (p.Ser28Leu) | ClinVar dbSNP |
| 17 | g.61847162G>C | CA400483082 | BRIP1 | c.566C>G (p.Ser189Ter) c.59C>G (p.Ser20Ter) n.2307C>G c.*54C>G (n.*54C>G) c.83C>G (p.Ser28Ter) | ClinVar dbSNP gnomAD v4 |
| 17 | g.61847162G= | CA2269198541 | BRIP1 | c.566C= (p.Ser189=) c.59C= (p.Ser20=) n.2307C= c.*54C= (n.*54C=) c.83C= (p.Ser28=) | |
| 17 | g.61847162G>T | CA400483081 | BRIP1 | c.566C>A (p.Ser189Ter) c.59C>A (p.Ser20Ter) n.2307C>A c.*54C>A (n.*54C>A) c.83C>A (p.Ser28Ter) | ClinVar |
| 17 | g.61847163A>C | CA400483084 | BRIP1 | c.565T>G (p.Ser189Ala) c.58T>G (p.Ser20Ala) n.2306T>G c.*53T>G (n.*53T>G) c.82T>G (p.Ser28Ala) | |
| 17 | g.61847163A>G | CA400483088 | BRIP1 | c.565T>C (p.Ser189Pro) c.58T>C (p.Ser20Pro) n.2306T>C c.*53T>C (n.*53T>C) c.82T>C (p.Ser28Pro) | |
| 17 | g.61847163A>T | CA400483086 | BRIP1 | c.565T>A (p.Ser189Thr) c.58T>A (p.Ser20Thr) n.2306T>A c.*53T>A (n.*53T>A) c.82T>A (p.Ser28Thr) | dbSNP |
| 17 | g.61847164A>C | CA400483089 | BRIP1 | c.564T>G (p.Asp188Glu) c.57T>G (p.Asp19Glu) n.2305T>G c.*52T>G (n.*52T>G) c.81T>G (p.Asp27Glu) | |
| 17 | g.61847164A>G | CA501150644 | BRIP1 | c.564T>C (p.Asp188=) c.57T>C (p.Asp19=) n.2305T>C c.*52T>C (n.*52T>C) c.81T>C (p.Asp27=) | |
| 17 | g.61847164A>T | CA400483091 | BRIP1 | c.564T>A (p.Asp188Glu) c.57T>A (p.Asp19Glu) n.2305T>A c.*52T>A (n.*52T>A) c.81T>A (p.Asp27Glu) | dbSNP |
| 17 | g.61847165T>A | CA400483094 | BRIP1 | c.563A>T (p.Asp188Val) c.56A>T (p.Asp19Val) n.2304A>T c.*51A>T (n.*51A>T) c.80A>T (p.Asp27Val) | dbSNP gnomAD v4 |
| 17 | g.61847165T>C | CA400483097 | BRIP1 | c.563A>G (p.Asp188Gly) c.56A>G (p.Asp19Gly) n.2304A>G c.*51A>G (n.*51A>G) c.80A>G (p.Asp27Gly) | |
| 17 | g.61847165T>G | CA400483098 | BRIP1 | c.563A>C (p.Asp188Ala) c.56A>C (p.Asp19Ala) n.2304A>C c.*51A>C (n.*51A>C) c.80A>C (p.Asp27Ala) | |
| 17 | g.61847166C>A | CA400483102 | BRIP1 | c.562G>T (p.Asp188Tyr) c.55G>T (p.Asp19Tyr) n.2303G>T c.*50G>T (n.*50G>T) c.79G>T (p.Asp27Tyr) | gnomAD v4 |
| 17 | g.61847166C>G | CA400483104 | BRIP1 | c.562G>C (p.Asp188His) c.55G>C (p.Asp19His) n.2303G>C c.*50G>C (n.*50G>C) c.79G>C (p.Asp27His) | dbSNP gnomAD v4 |
| 17 | g.61847166C>T | CA400483106 | BRIP1 | c.562G>A (p.Asp188Asn) c.55G>A (p.Asp19Asn) n.2303G>A c.*50G>A (n.*50G>A) c.79G>A (p.Asp27Asn) | dbSNP |
| 17 | g.61847167A= | CA2269198542 | BRIP1 | c.561T= (p.Val187=) c.54T= (p.Val18=) n.2302T= c.*49T= (n.*49T=) c.78T= (p.Val26=) | |
| 17 | g.61847167A>C | CA501150646 | BRIP1 | c.561T>G (p.Val187=) c.54T>G (p.Val18=) n.2302T>G c.*49T>G (n.*49T>G) c.78T>G (p.Val26=) | |
| 17 | g.61847167A>G | CA189606 | BRIP1 | c.561T>C (p.Val187=) c.54T>C (p.Val18=) n.2302T>C c.*49T>C (n.*49T>C) c.78T>C (p.Val26=) | ClinVar dbSNP |
| 17 | g.61847167A>T | CA501150645 | BRIP1 | c.561T>A (p.Val187=) c.54T>A (p.Val18=) n.2302T>A c.*49T>A (n.*49T>A) c.78T>A (p.Val26=) | |
| 17 | g.61847168del | CA2582342229 | BRIP1 | c.561del (p.Asp188IlefsTer6) c.54del (p.Asp19IlefsTer6) n.2302del c.*49del (n.*49del) c.78del (p.Asp27IlefsTer6) | ClinVar |
| 17 | g.61847168A= | CA2269198543 | BRIP1 | c.560T= (p.Val187=) c.53T= (p.Val18=) n.2301T= c.*48T= (n.*48T=) c.77T= (p.Val26=) | |
| 17 | g.61847168A>C | CA400483109 | BRIP1 | c.560T>G (p.Val187Gly) c.53T>G (p.Val18Gly) n.2301T>G c.*48T>G (n.*48T>G) c.77T>G (p.Val26Gly) | |
| 17 | g.61847168A>G | CA400483112 | BRIP1 | c.560T>C (p.Val187Ala) c.53T>C (p.Val18Ala) n.2301T>C c.*48T>C (n.*48T>C) c.77T>C (p.Val26Ala) | ClinVar dbSNP gnomAD v4 COSMIC |
| 17 | g.61847168A>T | CA400483114 | BRIP1 | c.560T>A (p.Val187Asp) c.53T>A (p.Val18Asp) n.2301T>A c.*48T>A (n.*48T>A) c.77T>A (p.Val26Asp) | dbSNP |
| 17 | g.61847169C>A | CA10580870 | BRIP1 | c.559G>T (p.Val187Phe) c.52G>T (p.Val18Phe) n.2300G>T c.*47G>T (n.*47G>T) c.76G>T (p.Val26Phe) | ClinVar dbSNP gnomAD v4 |
| 17 | g.61847169C= | CA2269198544 | BRIP1 | c.559G= (p.Val187=) c.52G= (p.Val18=) n.2300G= c.*47G= (n.*47G=) c.76G= (p.Val26=) | |
| 17 | g.61847169C>G | CA400483119 | BRIP1 | c.559G>C (p.Val187Leu) c.52G>C (p.Val18Leu) n.2300G>C c.*47G>C (n.*47G>C) c.76G>C (p.Val26Leu) | |
| 17 | g.61847169C>T | CA400483118 | BRIP1 | c.559G>A (p.Val187Ile) c.52G>A (p.Val18Ile) n.2300G>A c.*47G>A (n.*47G>A) c.76G>A (p.Val26Ile) | ClinVar |
| 17 | g.61847170T>A | CA400483123 | BRIP1 | c.558A>T (p.Lys186Asn) c.51A>T (p.Lys17Asn) n.2299A>T c.*46A>T (n.*46A>T) c.75A>T (p.Lys25Asn) | dbSNP |
| 17 | g.61847170T>C | CA501150649 | BRIP1 | c.558A>G (p.Lys186=) c.51A>G (p.Lys17=) n.2299A>G c.*46A>G (n.*46A>G) c.75A>G (p.Lys25=) | |
| 17 | g.61847170T>G | CA400483124 | BRIP1 | c.558A>C (p.Lys186Asn) c.51A>C (p.Lys17Asn) n.2299A>C c.*46A>C (n.*46A>C) c.75A>C (p.Lys25Asn) | |
| 17 | g.61847173del | CA2582342230 | BRIP1 | c.558del (p.Val187LeufsTer7) c.51del (p.Val18LeufsTer7) n.2299del c.*46del (n.*46del) c.75del (p.Val26LeufsTer7) | ClinVar |
| 17 | g.61847171T>A | CA400483126 | BRIP1 | c.557A>T (p.Lys186Ile) c.50A>T (p.Lys17Ile) n.2298A>T c.*45A>T (n.*45A>T) c.74A>T (p.Lys25Ile) | dbSNP |
| 17 | g.61847171T>C | CA400483128 | BRIP1 | c.557A>G (p.Lys186Arg) c.50A>G (p.Lys17Arg) n.2298A>G c.*45A>G (n.*45A>G) c.74A>G (p.Lys25Arg) | |
| 17 | g.61847171T>G | CA400483129 | BRIP1 | c.557A>C (p.Lys186Thr) c.50A>C (p.Lys17Thr) n.2298A>C c.*45A>C (n.*45A>C) c.74A>C (p.Lys25Thr) | |
| 17 | g.61847172T>A | CA400483133 | BRIP1 | c.556A>T (p.Lys186Ter) c.49A>T (p.Lys17Ter) n.2297A>T c.*44A>T (n.*44A>T) c.73A>T (p.Lys25Ter) | |
| 17 | g.61847172T>C | CA298831 | BRIP1 | c.556A>G (p.Lys186Glu) c.49A>G (p.Lys17Glu) n.2297A>G c.*44A>G (n.*44A>G) c.73A>G (p.Lys25Glu) | ClinVar dbSNP |
| 17 | g.61847172T>G | CA400483136 | BRIP1 | c.556A>C (p.Lys186Gln) c.49A>C (p.Lys17Gln) n.2297A>C c.*44A>C (n.*44A>C) c.73A>C (p.Lys25Gln) | ClinVar dbSNP |
| 17 | g.61847172T= | CA2269198545 | BRIP1 | c.556A= (p.Lys186=) c.49A= (p.Lys17=) n.2297A= c.*44A= (n.*44A=) c.73A= (p.Lys25=) | |
| 17 | g.61847173T>A | CA501150650 | BRIP1 | c.555A>T (p.Ala185=) c.48A>T (p.Ala16=) n.2296A>T c.*43A>T (n.*43A>T) c.72A>T (p.Ala24=) | dbSNP |
| 17 | g.61847173T>C | CA501150651 | BRIP1 | c.555A>G (p.Ala185=) c.48A>G (p.Ala16=) n.2296A>G c.*43A>G (n.*43A>G) c.72A>G (p.Ala24=) | |
| 17 | g.61847173T>G | CA8690909 | BRIP1 | c.555A>C (p.Ala185=) c.48A>C (p.Ala16=) n.2296A>C c.*43A>C (n.*43A>C) c.72A>C (p.Ala24=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.61847173T= | CA2269198546 | BRIP1 | c.555A= (p.Ala185=) c.48A= (p.Ala16=) n.2296A= c.*43A= (n.*43A=) c.72A= (p.Ala24=) |