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.61799188_61799210delinsCAAACCGAAGCTGAACTTCTGTT | CA2269178673 | BRIP1 | c.723_745delinsAACAGAAGTTCAGCTTCGGTTTG (p.Val241=) c.1230_1252delinsAACAGAAGTTCAGCTTCGGTTTG (p.Val410=) n.2971_2993delinsAACAGAAGTTCAGCTTCGGTTTG c.1008_1030delinsAACAGAAGTTCAGCTTCGGTTTG (p.Val336=) c.808_830delinsAACAGAAGTTCAGCTTCGGTTTG (n.808_830delinsAACAGAAGTTCAGCTTCGGTTTG) c.747_769delinsAACAGAAGTTCAGCTTCGGTTTG (p.Val249=) c.687_709delinsAACAGAAGTTCAGCTTCGGTTTG (p.Val229=) | |
| 17 | g.61799191dup | CA2695200313 | BRIP1 | c.744dup (p.Ala249CysfsTer4) c.1251dup (p.Ala418CysfsTer4) n.2992dup c.1029dup (p.Ala344CysfsTer4) c.829dup (n.829dup) c.768dup (p.Ala257CysfsTer4) c.708dup (p.Ala237CysfsTer4) | ClinVar |
| 17 | g.61799190_61799211del | CA192794 | BRIP1 | c.723_744del (p.Thr242LeufsTer5) c.1230_1251del (p.Thr411LeufsTer5) n.2971_2992del c.1008_1029del (p.Thr337LeufsTer5) c.808_829del (n.808_829del) c.747_768del (p.Thr250LeufsTer5) c.687_708del (p.Thr230LeufsTer5) | ClinVar dbSNP |
| 17 | g.61799190A>C | CA400483602 | BRIP1 | c.743T>G (p.Phe248Cys) c.1250T>G (p.Phe417Cys) n.2991T>G c.1028T>G (p.Phe343Cys) c.828T>G (n.828T>G) c.767T>G (p.Phe256Cys) c.707T>G (p.Phe236Cys) | dbSNP |
| 17 | g.61799190A>G | CA400483603 | BRIP1 | c.743T>C (p.Phe248Ser) c.1250T>C (p.Phe417Ser) n.2991T>C c.1028T>C (p.Phe343Ser) c.828T>C (n.828T>C) c.767T>C (p.Phe256Ser) c.707T>C (p.Phe236Ser) | |
| 17 | g.61799190A>T | CA400483604 | BRIP1 | c.743T>A (p.Phe248Tyr) c.1250T>A (p.Phe417Tyr) n.2991T>A c.1028T>A (p.Phe343Tyr) c.828T>A (n.828T>A) c.767T>A (p.Phe256Tyr) c.707T>A (p.Phe236Tyr) | ClinVar dbSNP |
| 17 | g.61799191A>C | CA400483605 | BRIP1 | c.742T>G (p.Phe248Val) c.1249T>G (p.Phe417Val) n.2990T>G c.1027T>G (p.Phe343Val) c.827T>G (n.827T>G) c.766T>G (p.Phe256Val) c.706T>G (p.Phe236Val) | dbSNP |
| 17 | g.61799191A>G | CA400483606 | BRIP1 | c.742T>C (p.Phe248Leu) c.1249T>C (p.Phe417Leu) n.2990T>C c.1027T>C (p.Phe343Leu) c.827T>C (n.827T>C) c.766T>C (p.Phe256Leu) c.706T>C (p.Phe236Leu) | |
| 17 | g.61799191A>T | CA400483607 | BRIP1 | c.742T>A (p.Phe248Ile) c.1249T>A (p.Phe417Ile) n.2990T>A c.1027T>A (p.Phe343Ile) c.827T>A (n.827T>A) c.766T>A (p.Phe256Ile) c.706T>A (p.Phe236Ile) | dbSNP |
| 17 | g.61799192C>A | CA501151530 | BRIP1 | c.741G>T (p.Arg247=) c.1248G>T (p.Arg416=) n.2989G>T c.1026G>T (p.Arg342=) c.826G>T (n.826G>T) c.765G>T (p.Arg255=) c.705G>T (p.Arg235=) | dbSNP |
| 17 | g.61799192C= | CA2269178676 | BRIP1 | c.741G= (p.Arg247=) c.1248G= (p.Arg416=) n.2989G= c.1026G= (p.Arg342=) c.826G= (n.826G=) c.765G= (p.Arg255=) c.705G= (p.Arg235=) | |
| 17 | g.61799192C>G | CA501151531 | BRIP1 | c.741G>C (p.Arg247=) c.1248G>C (p.Arg416=) n.2989G>C c.1026G>C (p.Arg342=) c.826G>C (n.826G>C) c.765G>C (p.Arg255=) c.705G>C (p.Arg235=) | dbSNP COSMIC |
| 17 | g.61799192C>T | CA501151529 | BRIP1 | c.741G>A (p.Arg247=) c.1248G>A (p.Arg416=) n.2989G>A c.1026G>A (p.Arg342=) c.826G>A (n.826G>A) c.765G>A (p.Arg255=) c.705G>A (p.Arg235=) | dbSNP |
| 17 | g.61799193C>A | CA400483609 | BRIP1 | c.740G>T (p.Arg247Leu) c.1247G>T (p.Arg416Leu) n.2988G>T c.1025G>T (p.Arg342Leu) c.825G>T (n.825G>T) c.764G>T (p.Arg255Leu) c.704G>T (p.Arg235Leu) | ClinVar dbSNP gnomAD v4 |
| 17 | g.61799193C= | CA2269178677 | BRIP1 | c.740G= (p.Arg247=) c.1247G= (p.Arg416=) n.2988G= c.1025G= (p.Arg342=) c.825G= (n.825G=) c.764G= (p.Arg255=) c.704G= (p.Arg235=) | |
| 17 | g.61799193C>G | CA400483608 | BRIP1 | c.740G>C (p.Arg247Pro) c.1247G>C (p.Arg416Pro) n.2988G>C c.1025G>C (p.Arg342Pro) c.825G>C (n.825G>C) c.764G>C (p.Arg255Pro) c.704G>C (p.Arg235Pro) | dbSNP |
| 17 | g.61799193C>T | CA8690772 | BRIP1 | c.740G>A (p.Arg247Gln) c.1247G>A (p.Arg416Gln) n.2988G>A c.1025G>A (p.Arg342Gln) c.825G>A (n.825G>A) c.764G>A (p.Arg255Gln) c.704G>A (p.Arg235Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.61799194G>A | CA288508 | BRIP1 | c.739C>T (p.Arg247Trp) c.1246C>T (p.Arg416Trp) n.2987C>T c.1024C>T (p.Arg342Trp) c.824C>T (n.824C>T) c.763C>T (p.Arg255Trp) c.703C>T (p.Arg235Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.61799194G>C | CA400483610 | BRIP1 | c.739C>G (p.Arg247Gly) c.1246C>G (p.Arg416Gly) n.2987C>G c.1024C>G (p.Arg342Gly) c.824C>G (n.824C>G) c.763C>G (p.Arg255Gly) c.703C>G (p.Arg235Gly) | dbSNP |
| 17 | g.61799194G= | CA2269178678 | BRIP1 | c.739C= (p.Arg247=) c.1246C= (p.Arg416=) n.2987C= c.1024C= (p.Arg342=) c.824C= (n.824C=) c.763C= (p.Arg255=) c.703C= (p.Arg235=) | |
| 17 | g.61799194G>T | CA501151534 | BRIP1 | c.739C>A (p.Arg247=) c.1246C>A (p.Arg416=) n.2987C>A c.1024C>A (p.Arg342=) c.824C>A (n.824C>A) c.763C>A (p.Arg255=) c.703C>A (p.Arg235=) | dbSNP |
| 17 | g.61799195A= | CA2269178679 | BRIP1 | c.738T= (p.Leu246=) c.1245T= (p.Leu415=) n.2986T= c.1023T= (p.Leu341=) c.823T= (n.823T=) c.762T= (p.Leu254=) c.702T= (p.Leu234=) | |
| 17 | g.61799195A>C | CA501151535 | BRIP1 | c.738T>G (p.Leu246=) c.1245T>G (p.Leu415=) n.2986T>G c.1023T>G (p.Leu341=) c.823T>G (n.823T>G) c.762T>G (p.Leu254=) c.702T>G (p.Leu234=) | |
| 17 | g.61799195A>G | CA501151536 | BRIP1 | c.738T>C (p.Leu246=) c.1245T>C (p.Leu415=) n.2986T>C c.1023T>C (p.Leu341=) c.823T>C (n.823T>C) c.762T>C (p.Leu254=) c.702T>C (p.Leu234=) | |
| 17 | g.61799195A>T | CA501151537 | BRIP1 | c.738T>A (p.Leu246=) c.1245T>A (p.Leu415=) n.2986T>A c.1023T>A (p.Leu341=) c.823T>A (n.823T>A) c.762T>A (p.Leu254=) c.702T>A (p.Leu234=) | |
| 17 | g.61799196A>C | CA400483611 | BRIP1 | c.737T>G (p.Leu246Arg) c.1244T>G (p.Leu415Arg) n.2985T>G c.1022T>G (p.Leu341Arg) c.822T>G (n.822T>G) c.761T>G (p.Leu254Arg) c.701T>G (p.Leu234Arg) | |
| 17 | g.61799196A>G | CA400483613 | BRIP1 | c.737T>C (p.Leu246Pro) c.1244T>C (p.Leu415Pro) n.2985T>C c.1022T>C (p.Leu341Pro) c.822T>C (n.822T>C) c.761T>C (p.Leu254Pro) c.701T>C (p.Leu234Pro) | |
| 17 | g.61799196A>T | CA400483612 | BRIP1 | c.737T>A (p.Leu246His) c.1244T>A (p.Leu415His) n.2985T>A c.1022T>A (p.Leu341His) c.822T>A (n.822T>A) c.761T>A (p.Leu254His) c.701T>A (p.Leu234His) | dbSNP |
| 17 | g.61799197_61799201dup | CA1139665790 | BRIP1 | c.733_737dup (p.Arg247SerfsTer9) c.1240_1244dup (p.Arg416SerfsTer9) n.2981_2985dup c.1018_1022dup (p.Arg342SerfsTer9) c.818_822dup (n.818_822dup) c.757_761dup (p.Arg255SerfsTer9) c.697_701dup (p.Arg235SerfsTer9) | ClinVar dbSNP |
| 17 | g.61799197G>A | CA400483614 | BRIP1 | c.736C>T (p.Leu246Phe) c.1243C>T (p.Leu415Phe) n.2984C>T c.1021C>T (p.Leu341Phe) c.821C>T (n.821C>T) c.760C>T (p.Leu254Phe) c.700C>T (p.Leu234Phe) | dbSNP |
| 17 | g.61799197G>C | CA400483615 | BRIP1 | c.736C>G (p.Leu246Val) c.1243C>G (p.Leu415Val) n.2984C>G c.1021C>G (p.Leu341Val) c.821C>G (n.821C>G) c.760C>G (p.Leu254Val) c.700C>G (p.Leu234Val) | dbSNP |
| 17 | g.61799197G>T | CA400483616 | BRIP1 | c.736C>A (p.Leu246Ile) c.1243C>A (p.Leu415Ile) n.2984C>A c.1021C>A (p.Leu341Ile) c.821C>A (n.821C>A) c.760C>A (p.Leu254Ile) c.700C>A (p.Leu234Ile) | |
| 17 | g.61799198C>A | CA400483617 | BRIP1 | c.735G>T (p.Gln245His) c.1242G>T (p.Gln414His) n.2983G>T c.1020G>T (p.Gln340His) c.820G>T (n.820G>T) c.759G>T (p.Gln253His) c.699G>T (p.Gln233His) | dbSNP |
| 17 | g.61799198C= | CA2269178680 | BRIP1 | c.735G= (p.Gln245=) c.1242G= (p.Gln414=) n.2983G= c.1020G= (p.Gln340=) c.820G= (n.820G=) c.759G= (p.Gln253=) c.699G= (p.Gln233=) | |
| 17 | g.61799198C>G | CA400483618 | BRIP1 | c.735G>C (p.Gln245His) c.1242G>C (p.Gln414His) n.2983G>C c.1020G>C (p.Gln340His) c.820G>C (n.820G>C) c.759G>C (p.Gln253His) c.699G>C (p.Gln233His) | ClinVar dbSNP |
| 17 | g.61799198C>T | CA501151538 | BRIP1 | c.735G>A (p.Gln245=) c.1242G>A (p.Gln414=) n.2983G>A c.1020G>A (p.Gln340=) c.820G>A (n.820G>A) c.759G>A (p.Gln253=) c.699G>A (p.Gln233=) | ClinVar dbSNP |
| 17 | g.61799199T>A | CA400483619 | BRIP1 | c.734A>T (p.Gln245Leu) c.1241A>T (p.Gln414Leu) n.2982A>T c.1019A>T (p.Gln340Leu) c.819A>T (n.819A>T) c.758A>T (p.Gln253Leu) c.698A>T (p.Gln233Leu) | |
| 17 | g.61799199T>C | CA400483620 | BRIP1 | c.734A>G (p.Gln245Arg) c.1241A>G (p.Gln414Arg) n.2982A>G c.1019A>G (p.Gln340Arg) c.819A>G (n.819A>G) c.758A>G (p.Gln253Arg) c.698A>G (p.Gln233Arg) | dbSNP |
| 17 | g.61799199T>G | CA400483621 | BRIP1 | c.734A>C (p.Gln245Pro) c.1241A>C (p.Gln414Pro) n.2982A>C c.1019A>C (p.Gln340Pro) c.819A>C (n.819A>C) c.758A>C (p.Gln253Pro) c.698A>C (p.Gln233Pro) | |
| 17 | g.61799200G>A | CA165277 | BRIP1 | c.733C>T (p.Gln245Ter) c.1240C>T (p.Gln414Ter) n.2981C>T c.1018C>T (p.Gln340Ter) c.818C>T (n.818C>T) c.757C>T (p.Gln253Ter) c.697C>T (p.Gln233Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.61799200G>C | CA400483622 | BRIP1 | c.733C>G (p.Gln245Glu) c.1240C>G (p.Gln414Glu) n.2981C>G c.1018C>G (p.Gln340Glu) c.818C>G (n.818C>G) c.757C>G (p.Gln253Glu) c.697C>G (p.Gln233Glu) | dbSNP |
| 17 | g.61799200G= | CA2269178681 | BRIP1 | c.733C= (p.Gln245=) c.1240C= (p.Gln414=) n.2981C= c.1018C= (p.Gln340=) c.818C= (n.818C=) c.757C= (p.Gln253=) c.697C= (p.Gln233=) | |
| 17 | g.61799200G>T | CA400483623 | BRIP1 | c.733C>A (p.Gln245Lys) c.1240C>A (p.Gln414Lys) n.2981C>A c.1018C>A (p.Gln340Lys) c.818C>A (n.818C>A) c.757C>A (p.Gln253Lys) c.697C>A (p.Gln233Lys) | |
| 17 | g.61799201A= | CA2269178682 | BRIP1 | c.732T= (p.Val244=) c.1239T= (p.Val413=) n.2980T= c.1017T= (p.Val339=) c.817T= (n.817T=) c.756T= (p.Val252=) c.696T= (p.Val232=) | |
| 17 | g.61799201A>C | CA501151541 | BRIP1 | c.732T>G (p.Val244=) c.1239T>G (p.Val413=) n.2980T>G c.1017T>G (p.Val339=) c.817T>G (n.817T>G) c.756T>G (p.Val252=) c.696T>G (p.Val232=) | |
| 17 | g.61799201A>G | CA501151542 | BRIP1 | c.732T>C (p.Val244=) c.1239T>C (p.Val413=) n.2980T>C c.1017T>C (p.Val339=) c.817T>C (n.817T>C) c.756T>C (p.Val252=) c.696T>C (p.Val232=) | ClinVar dbSNP |
| 17 | g.61799201A>T | CA501151543 | BRIP1 | c.732T>A (p.Val244=) c.1239T>A (p.Val413=) n.2980T>A c.1017T>A (p.Val339=) c.817T>A (n.817T>A) c.756T>A (p.Val252=) c.696T>A (p.Val232=) | dbSNP |
| 17 | g.61799202A= | CA2269178683 | BRIP1 | c.731T= (p.Val244=) c.1238T= (p.Val413=) n.2979T= c.1016T= (p.Val339=) c.816T= (n.816T=) c.755T= (p.Val252=) c.695T= (p.Val232=) | |
| 17 | g.61799202A>C | CA400483625 | BRIP1 | c.731T>G (p.Val244Gly) c.1238T>G (p.Val413Gly) n.2979T>G c.1016T>G (p.Val339Gly) c.816T>G (n.816T>G) c.755T>G (p.Val252Gly) c.695T>G (p.Val232Gly) | dbSNP |
| 17 | g.61799202A>G | CA8690773 | BRIP1 | c.731T>C (p.Val244Ala) c.1238T>C (p.Val413Ala) n.2979T>C c.1016T>C (p.Val339Ala) c.816T>C (n.816T>C) c.755T>C (p.Val252Ala) c.695T>C (p.Val232Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |