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.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.61799207_61799217del | CA2576345099 | BRIP1 | c.716_726del (p.Tyr239Ter) c.1223_1233del (p.Tyr408Ter) n.2964_2974del c.1001_1011del (p.Tyr334Ter) c.801_811del (n.801_811del) c.740_750del (p.Tyr247Ter) c.680_690del (p.Tyr227Ter) | |
| 17 | g.61799209T>A | CA400483640 | BRIP1 | c.724A>T (p.Thr242Ser) c.1231A>T (p.Thr411Ser) n.2972A>T c.1009A>T (p.Thr337Ser) c.809A>T (n.809A>T) c.748A>T (p.Thr250Ser) c.688A>T (p.Thr230Ser) | dbSNP |
| 17 | g.61799209T>C | CA400483641 | BRIP1 | c.724A>G (p.Thr242Ala) c.1231A>G (p.Thr411Ala) n.2972A>G c.1009A>G (p.Thr337Ala) c.809A>G (n.809A>G) c.748A>G (p.Thr250Ala) c.688A>G (p.Thr230Ala) | |
| 17 | g.61799209T>G | CA400483642 | BRIP1 | c.724A>C (p.Thr242Pro) c.1231A>C (p.Thr411Pro) n.2972A>C c.1009A>C (p.Thr337Pro) c.809A>C (n.809A>C) c.748A>C (p.Thr250Pro) c.688A>C (p.Thr230Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.61799209T= | CA2269178688 | BRIP1 | c.724A= (p.Thr242=) c.1231A= (p.Thr411=) n.2972A= c.1009A= (p.Thr337=) c.809A= (n.809A=) c.748A= (p.Thr250=) c.688A= (p.Thr230=) | |
| 17 | g.61799210T>A | CA501151553 | BRIP1 | c.723A>T (p.Val241=) c.1230A>T (p.Val410=) n.2971A>T c.1008A>T (p.Val336=) c.808A>T (n.808A>T) c.747A>T (p.Val249=) c.687A>T (p.Val229=) | |
| 17 | g.61799210T>C | CA501151555 | BRIP1 | c.723A>G (p.Val241=) c.1230A>G (p.Val410=) n.2971A>G c.1008A>G (p.Val336=) c.808A>G (n.808A>G) c.747A>G (p.Val249=) c.687A>G (p.Val229=) | ClinVar |
| 17 | g.61799210T>G | CA501151557 | BRIP1 | c.723A>C (p.Val241=) c.1230A>C (p.Val410=) n.2971A>C c.1008A>C (p.Val336=) c.808A>C (n.808A>C) c.747A>C (p.Val249=) c.687A>C (p.Val229=) | ClinVar dbSNP |
| 17 | g.61799211A= | CA2269178689 | BRIP1 | c.722T= (p.Val241=) c.1229T= (p.Val410=) n.2970T= c.1007T= (p.Val336=) c.807T= (n.807T=) c.746T= (p.Val249=) c.686T= (p.Val229=) | |
| 17 | g.61799211A>C | CA400483643 | BRIP1 | c.722T>G (p.Val241Gly) c.1229T>G (p.Val410Gly) n.2970T>G c.1007T>G (p.Val336Gly) c.807T>G (n.807T>G) c.746T>G (p.Val249Gly) c.686T>G (p.Val229Gly) | |
| 17 | g.61799211A>G | CA400483644 | BRIP1 | c.722T>C (p.Val241Ala) c.1229T>C (p.Val410Ala) n.2970T>C c.1007T>C (p.Val336Ala) c.807T>C (n.807T>C) c.746T>C (p.Val249Ala) c.686T>C (p.Val229Ala) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.61799211A>T | CA400483645 | BRIP1 | c.722T>A (p.Val241Glu) c.1229T>A (p.Val410Glu) n.2970T>A c.1007T>A (p.Val336Glu) c.807T>A (n.807T>A) c.746T>A (p.Val249Glu) c.686T>A (p.Val229Glu) | dbSNP |
| 17 | g.61799211dup | CA2580094492 | BRIP1 | c.722dup (p.Thr242AsnfsTer11) c.1229dup (p.Thr411AsnfsTer11) n.2970dup c.1007dup (p.Thr337AsnfsTer11) c.807dup (n.807dup) c.746dup (p.Thr250AsnfsTer11) c.686dup (p.Thr230AsnfsTer11) | ClinVar |
| 17 | g.61799212del | CA2582342231 | BRIP1 | c.721del (p.Val241Ter) c.1228del (p.Val410Ter) n.2969del c.1006del (p.Val336Ter) c.806del (n.806del) c.745del (p.Val249Ter) c.685del (p.Val229Ter) | ClinVar |
| 17 | g.61799212C>A | CA400483648 | BRIP1 | c.721G>T (p.Val241Leu) c.1228G>T (p.Val410Leu) n.2969G>T c.1006G>T (p.Val336Leu) c.806G>T (n.806G>T) c.745G>T (p.Val249Leu) c.685G>T (p.Val229Leu) | |
| 17 | g.61799212C>G | CA400483646 | BRIP1 | c.721G>C (p.Val241Leu) c.1228G>C (p.Val410Leu) n.2969G>C c.1006G>C (p.Val336Leu) c.806G>C (n.806G>C) c.745G>C (p.Val249Leu) c.685G>C (p.Val229Leu) | ClinVar dbSNP |
| 17 | g.61799212C>T | CA400483647 | BRIP1 | c.721G>A (p.Val241Ile) c.1228G>A (p.Val410Ile) n.2969G>A c.1006G>A (p.Val336Ile) c.806G>A (n.806G>A) c.745G>A (p.Val249Ile) c.685G>A (p.Val229Ile) | ClinVar dbSNP |
| 17 | g.61799213A= | CA2269178690 | BRIP1 | c.720T= (p.Ser240=) c.1227T= (p.Ser409=) n.2968T= c.1005T= (p.Ser335=) c.805T= (n.805T=) c.744T= (p.Ser248=) c.684T= (p.Ser228=) | |
| 17 | g.61799213A>C | CA400483649 | BRIP1 | c.720T>G (p.Ser240Arg) c.1227T>G (p.Ser409Arg) n.2968T>G c.1005T>G (p.Ser335Arg) c.805T>G (n.805T>G) c.744T>G (p.Ser248Arg) c.684T>G (p.Ser228Arg) | |
| 17 | g.61799213A>G | CA501151560 | BRIP1 | c.720T>C (p.Ser240=) c.1227T>C (p.Ser409=) n.2968T>C c.1005T>C (p.Ser335=) c.805T>C (n.805T>C) c.744T>C (p.Ser248=) c.684T>C (p.Ser228=) | ClinVar dbSNP gnomAD v4 |
| 17 | g.61799213A>T | CA400483650 | BRIP1 | c.720T>A (p.Ser240Arg) c.1227T>A (p.Ser409Arg) n.2968T>A c.1005T>A (p.Ser335Arg) c.805T>A (n.805T>A) c.744T>A (p.Ser248Arg) c.684T>A (p.Ser228Arg) | dbSNP |
| 17 | g.61799214C>A | CA167452 | BRIP1 | c.719G>T (p.Ser240Ile) c.1226G>T (p.Ser409Ile) n.2967G>T c.1004G>T (p.Ser335Ile) c.804G>T (n.804G>T) c.743G>T (p.Ser248Ile) c.683G>T (p.Ser228Ile) | ClinVar dbSNP |
| 17 | g.61799214C= | CA2269178691 | BRIP1 | c.719G= (p.Ser240=) c.1226G= (p.Ser409=) n.2967G= c.1004G= (p.Ser335=) c.804G= (n.804G=) c.743G= (p.Ser248=) c.683G= (p.Ser228=) | |
| 17 | g.61799214C>G | CA400483651 | BRIP1 | c.719G>C (p.Ser240Thr) c.1226G>C (p.Ser409Thr) n.2967G>C c.1004G>C (p.Ser335Thr) c.804G>C (n.804G>C) c.743G>C (p.Ser248Thr) c.683G>C (p.Ser228Thr) | ClinVar dbSNP |
| 17 | g.61799214C>T | CA400483652 | BRIP1 | c.719G>A (p.Ser240Asn) c.1226G>A (p.Ser409Asn) n.2967G>A c.1004G>A (p.Ser335Asn) c.804G>A (n.804G>A) c.743G>A (p.Ser248Asn) c.683G>A (p.Ser228Asn) | ClinVar dbSNP gnomAD v4 |
| 17 | g.61799215T>A | CA400483653 | BRIP1 | c.718A>T (p.Ser240Cys) c.1225A>T (p.Ser409Cys) n.2966A>T c.1003A>T (p.Ser335Cys) c.803A>T (n.803A>T) c.742A>T (p.Ser248Cys) c.682A>T (p.Ser228Cys) | ClinVar |
| 17 | g.61799215T>C | CA400483655 | BRIP1 | c.718A>G (p.Ser240Gly) c.1225A>G (p.Ser409Gly) n.2966A>G c.1003A>G (p.Ser335Gly) c.803A>G (n.803A>G) c.742A>G (p.Ser248Gly) c.682A>G (p.Ser228Gly) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
| 17 | g.61799215T>G | CA400483654 | BRIP1 | c.718A>C (p.Ser240Arg) c.1225A>C (p.Ser409Arg) n.2966A>C c.1003A>C (p.Ser335Arg) c.803A>C (n.803A>C) c.742A>C (p.Ser248Arg) c.682A>C (p.Ser228Arg) | |
| 17 | g.61799216G>A | CA501151564 | BRIP1 | c.717C>T (p.Tyr239=) c.1224C>T (p.Tyr408=) n.2965C>T c.1002C>T (p.Tyr334=) c.802C>T (n.802C>T) c.741C>T (p.Tyr247=) c.681C>T (p.Tyr227=) | ClinVar dbSNP gnomAD v4 |
| 17 | g.61799216G>C | CA400483656 | BRIP1 | c.717C>G (p.Tyr239Ter) c.1224C>G (p.Tyr408Ter) n.2965C>G c.1002C>G (p.Tyr334Ter) c.802C>G (n.802C>G) c.741C>G (p.Tyr247Ter) c.681C>G (p.Tyr227Ter) | dbSNP |
| 17 | g.61799216G>T | CA400483657 | BRIP1 | c.717C>A (p.Tyr239Ter) c.1224C>A (p.Tyr408Ter) n.2965C>A c.1002C>A (p.Tyr334Ter) c.802C>A (n.802C>A) c.741C>A (p.Tyr247Ter) c.681C>A (p.Tyr227Ter) | |
| 17 | g.61799216_61799217insA | CA2580094497 | BRIP1 | c.716_717insT (p.Ser240GlnfsTer13) c.1223_1224insT (p.Ser409GlnfsTer13) n.2964_2965insT c.1001_1002insT (p.Ser335GlnfsTer13) c.801_802insT (n.801_802insT) c.740_741insT (p.Ser248GlnfsTer13) c.680_681insT (p.Ser228GlnfsTer13) | ClinVar |
| 17 | g.61799217T>A | CA400483658 | BRIP1 | c.716A>T (p.Tyr239Phe) c.1223A>T (p.Tyr408Phe) n.2964A>T c.1001A>T (p.Tyr334Phe) c.801A>T (n.801A>T) c.740A>T (p.Tyr247Phe) c.680A>T (p.Tyr227Phe) | dbSNP |
| 17 | g.61799217T>C | CA400483659 | BRIP1 | c.716A>G (p.Tyr239Cys) c.1223A>G (p.Tyr408Cys) n.2964A>G c.1001A>G (p.Tyr334Cys) c.801A>G (n.801A>G) c.740A>G (p.Tyr247Cys) c.680A>G (p.Tyr227Cys) | |
| 17 | g.61799217T>G | CA400483660 | BRIP1 | c.716A>C (p.Tyr239Ser) c.1223A>C (p.Tyr408Ser) n.2964A>C c.1001A>C (p.Tyr334Ser) c.801A>C (n.801A>C) c.740A>C (p.Tyr247Ser) c.680A>C (p.Tyr227Ser) | dbSNP |
| 17 | g.61799217T= | CA2269178692 | BRIP1 | c.716A= (p.Tyr239=) c.1223A= (p.Tyr408=) n.2964A= c.1001A= (p.Tyr334=) c.801A= (n.801A=) c.740A= (p.Tyr247=) c.680A= (p.Tyr227=) | |
| 17 | g.61799218A>C | CA400483661 | BRIP1 | c.715T>G (p.Tyr239Asp) c.1222T>G (p.Tyr408Asp) n.2963T>G c.1000T>G (p.Tyr334Asp) c.800T>G (n.800T>G) c.739T>G (p.Tyr247Asp) c.679T>G (p.Tyr227Asp) | |
| 17 | g.61799218A>G | CA400483662 | BRIP1 | c.715T>C (p.Tyr239His) c.1222T>C (p.Tyr408His) n.2963T>C c.1000T>C (p.Tyr334His) c.800T>C (n.800T>C) c.739T>C (p.Tyr247His) c.679T>C (p.Tyr227His) | |
| 17 | g.61799218A>T | CA400483663 | BRIP1 | c.715T>A (p.Tyr239Asn) c.1222T>A (p.Tyr408Asn) n.2963T>A c.1000T>A (p.Tyr334Asn) c.800T>A (n.800T>A) c.739T>A (p.Tyr247Asn) c.679T>A (p.Tyr227Asn) | dbSNP |
| 17 | g.61799219dup | CA915950711 | BRIP1 | c.715dup (p.Tyr239LeufsTer14) c.1222dup (p.Tyr408LeufsTer14) n.2963dup c.1000dup (p.Tyr334LeufsTer14) c.800dup (n.800dup) c.739dup (p.Tyr247LeufsTer14) c.679dup (p.Tyr227LeufsTer14) | ClinVar dbSNP gnomAD v4 |
| 17 | g.61799219A= | CA2269178693 | BRIP1 | c.714T= (p.Ser238=) c.1221T= (p.Ser407=) n.2962T= c.999T= (p.Ser333=) c.799T= (n.799T=) c.738T= (p.Ser246=) c.678T= (p.Ser226=) | |
| 17 | g.61799219A>C | CA400483664 | BRIP1 | c.714T>G (p.Ser238Arg) c.1221T>G (p.Ser407Arg) n.2962T>G c.999T>G (p.Ser333Arg) c.799T>G (n.799T>G) c.738T>G (p.Ser246Arg) c.678T>G (p.Ser226Arg) | ClinVar dbSNP |
| 17 | g.61799219A>G | CA501151565 | BRIP1 | c.714T>C (p.Ser238=) c.1221T>C (p.Ser407=) n.2962T>C c.999T>C (p.Ser333=) c.799T>C (n.799T>C) c.738T>C (p.Ser246=) c.678T>C (p.Ser226=) | |
| 17 | g.61799219A>T | CA400483665 | BRIP1 | c.714T>A (p.Ser238Arg) c.1221T>A (p.Ser407Arg) n.2962T>A c.999T>A (p.Ser333Arg) c.799T>A (n.799T>A) c.738T>A (p.Ser246Arg) c.678T>A (p.Ser226Arg) | dbSNP |
| 17 | g.61799220C>A | CA400483667 | BRIP1 | c.713G>T (p.Ser238Ile) c.1220G>T (p.Ser407Ile) n.2961G>T c.998G>T (p.Ser333Ile) c.798G>T (n.798G>T) c.737G>T (p.Ser246Ile) c.677G>T (p.Ser226Ile) | dbSNP |
| 17 | g.61799220C= | CA2269178694 | BRIP1 | c.713G= (p.Ser238=) c.1220G= (p.Ser407=) n.2961G= c.998G= (p.Ser333=) c.798G= (n.798G=) c.737G= (p.Ser246=) c.677G= (p.Ser226=) | |
| 17 | g.61799220C>G | CA400483666 | BRIP1 | c.713G>C (p.Ser238Thr) c.1220G>C (p.Ser407Thr) n.2961G>C c.998G>C (p.Ser333Thr) c.798G>C (n.798G>C) c.737G>C (p.Ser246Thr) c.677G>C (p.Ser226Thr) | dbSNP |
| 17 | g.61799220C>T | CA8690774 | BRIP1 | c.713G>A (p.Ser238Asn) c.1220G>A (p.Ser407Asn) n.2961G>A c.998G>A (p.Ser333Asn) c.798G>A (n.798G>A) c.737G>A (p.Ser246Asn) c.677G>A (p.Ser226Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |