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 |
|---|---|---|---|---|---|
| 6 | g.29942803_29943045del | CA2677793906 | HLA-A | c.120_343+19del n.396_619+19del c.36_259+19del n.25_267del n.120_362del n.122_364del n.126_177+191del | gnomAD v4 |
| 6 | g.29942891_29943120del | CA2677794326 | HLA-A | c.208_343+94del n.484_619+94del c.124_259+94del n.208_437del n.210_439del n.177+37_178-165del | gnomAD v4 |
| 6 | g.29942901_29943130del | CA1087339940 | HLA-A | c.218_343+104del n.494_619+104del c.134_259+104del n.218_447del n.220_449del n.177+47_178-155del | gnomAD v3 gnomAD v4 |
| 6 | g.29942905_29943134del | CA2565140888 | HLA-A | c.222_343+108del n.498_619+108del c.138_259+108del n.222_451del n.224_453del n.177+51_178-151del | |
| 6 | g.29942920_29942939dup | CA2677794357 | HLA-A | c.237_256dup (p.Gln86ArgfsTer13) n.513_532dup c.153_172dup (p.Gln58ArgfsTer13) n.129_148dup n.237_256dup n.239_258dup n.177+66_177+85dup | gnomAD v4 |
| 6 | g.29942938_29942939del | CA2677794366 | HLA-A | c.255_256del (p.Asp85GlufsTer13) n.531_532del c.171_172del (p.Asp57GlufsTer13) n.129_130del n.255_256del n.257_258del n.177+84_177+85del | gnomAD v4 |
| 6 | g.29942939del | CA566285772 | HLA-A | c.256del (p.Gln86ArgfsTer6) n.532del c.172del (p.Gln58ArgfsTer6) n.130del n.256del n.258del n.177+85del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.29942938_29942940delinsCCA | CA1618524088 | HLA-A | c.255_257delinsCCA (p.Asp85=) n.531_533delinsCCA c.171_173delinsCCA (p.Asp57=) n.128_130delinsTGG n.255_257delinsCCA n.257_259delinsCCA n.177+84_177+86delinsCCA | |
| 6 | g.29942939C>A | CA136019946 | HLA-A | c.256C>A (p.Gln86Lys) n.532C>A c.172C>A (p.Gln58Lys) n.129G>T n.256C>A n.258C>A n.177+85C>A | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.29942939C= | CA1618524108 | HLA-A | c.256C= (p.Gln86=) n.532C= c.172C= (p.Gln58=) n.129G= n.256C= n.258C= n.177+85C= | |
| 6 | g.29942939C>G | CA3693098 | HLA-A | c.256C>G (p.Gln86Glu) n.532C>G c.172C>G (p.Gln58Glu) n.129G>C n.256C>G n.258C>G n.177+85C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.[29942939C>G;29942940A>G;29942953T>A] | CA2573333713 | HLA-A | c.[256C>G;257A>G;270T>A] (p.[Gln86Glu;Gln86Arg;Asn90Lys]) n.[532C>G;533A>G;546T>A] c.[172C>G;173A>G;186T>A] (p.[Gln58Glu;Gln58Arg;Asn62Lys]) n.[115A>T;128T>C;129G>C] n.[256C>G;257A>G;270T>A] n.[258C>G;259A>G;272T>A] n.[177+85C>G;177+86A>G;177+99T>A] | |
| 6 | g.[29942939C>G;29942940A>G;29942953T>A;29942965G>C;29942975G>C] | CA2573333712 | HLA-A | c.[256C>G;257A>G;270T>A;282G>C;292G>C] (p.[Gln86Glu;Gln86Arg;Asn90Lys;Gln94His;Asp98His]) n.[532C>G;533A>G;546T>A;558G>C;568G>C] c.[172C>G;173A>G;186T>A;198G>C;208G>C] (p.[Gln58Glu;Gln58Arg;Asn62Lys;Gln66His;Asp70His]) n.[93C>G;103C>G;115A>T;128T>C;129G>C] n.[256C>G;257A>G;270T>A;282G>C;292G>C] n.[258C>G;259A>G;272T>A;284G>C;294G>C] n.[177+85C>G;177+86A>G;177+99T>A;177+111G>C;177+121G>C] | |
| 6 | g.[29942939C>G;29942948C>G;29942953T>A] | CA2573333718 | HLA-A | c.[256C>G;265C>G;270T>A] (p.[Gln86Glu;Arg89Gly;Asn90Lys]) n.[532C>G;541C>G;546T>A] c.[172C>G;181C>G;186T>A] (p.[Gln58Glu;Arg61Gly;Asn62Lys]) n.[115A>T;120G>C;129G>C] n.[256C>G;265C>G;270T>A] n.[258C>G;267C>G;272T>A] n.[177+85C>G;177+94C>G;177+99T>A] | |
| 6 | g.[29942939C>G;29942948C>G;29942953T>A;29942965G>C;29942982T>A;29942984G>A] | CA2573333717 | HLA-A | c.[256C>G;265C>G;270T>A;282G>C;299T>A;301G>A] (p.[Gln86Glu;Arg89Gly;Asn90Lys;Gln94His;Val100Glu;Asp101Asn]) n.[532C>G;541C>G;546T>A;558G>C;575T>A;577G>A] c.[172C>G;181C>G;186T>A;198G>C;215T>A;217G>A] (p.[Gln58Glu;Arg61Gly;Asn62Lys;Gln66His;Val72Glu;Asp73Asn]) n.[84C>T;86A>T;103C>G;115A>T;120G>C;129G>C] n.[256C>G;265C>G;270T>A;282G>C;299T>A;301G>A] n.[258C>G;267C>G;272T>A;284G>C;301T>A;303G>A] n.[177+85C>G;177+94C>G;177+99T>A;177+111G>C;177+128T>A;177+130G>A] | |
| 6 | g.[29942939C>G;29942948C>G;29942953T>A;29942965G>C;29942982T>A;29942984G>A;29942990G>C;29942994C>T;29942996C>G;29942997T>C;29943000G>T;29943002G>C] | CA2573333716 | HLA-A | c.[256C>G;265C>G;270T>A;282G>C;299T>A;301G>A;307G>C;311C>T;313C>G;314T>C;317G>T;319G>C] (p.[Gln86Glu;Arg89Gly;Asn90Lys;Gln94His;Val100Glu;Asp101Asn;Gly103Arg;Thr104Ile;Leu105Val;Leu105Pro;Arg106Leu;Gly107Arg]) n.[532C>G;541C>G;546T>A;558G>C;575T>A;577G>A;583G>C;587C>T;589C>G;590T>C;593G>T;595G>C] c.[172C>G;181C>G;186T>A;198G>C;215T>A;217G>A;223G>C;227C>T;229C>G;230T>C;233G>T;235G>C] (p.[Gln58Glu;Arg61Gly;Asn62Lys;Gln66His;Val72Glu;Asp73Asn;Gly75Arg;Thr76Ile;Leu77Val;Leu77Pro;Arg78Leu;Gly79Arg]) n.[66C>G;68C>A;71A>G;72G>C;74G>A;78C>G;84C>T;86A>T;103C>G;115A>T;120G>C;129G>C] n.[256C>G;265C>G;270T>A;282G>C;299T>A;301G>A;307G>C;311C>T;313C>G;314T>C;317G>T;319G>C] n.[258C>G;267C>G;272T>A;284G>C;301T>A;303G>A;309G>C;313C>T;315C>G;316T>C;319G>T;321G>C] n.[177+85C>G;177+94C>G;177+99T>A;177+111G>C;177+128T>A;177+130G>A;177+136G>C;177+140C>T;177+142C>G;177+143T>C;177+146G>T;177+148G>C] | |
| 6 | g.[29942939C>G;29942948C>G;29942953T>A;29942965G>C;29942982T>A;29942984G>A;29942990G>C;29942994C>T;29942996C>G;29942997T>C;29943000G>T;29943002G>C;29943279A>C;29943287A>G;29943292A>T;29943337G>A;29943338G>C;29943342G>T;29943377C>A;29943426A>C;29943448A>G;29943451A>T;29943479T>G;29943494G>C;29943495T>G] | CA2573333714 | HLA-A | c.[256C>G;265C>G;270T>A;282G>C;299T>A;301G>A;307G>C;311C>T;313C>G;314T>C;317G>T;319G>C;355A>C;363A>G;368A>T;413G>A;414G>C;418G>T;453C>A;502A>C;524A>G;527A>T;555T>G;570G>C;571T>G] (p.[Gln86Glu;Arg89Gly;Asn90Lys;Gln94His;Val100Glu;Asp101Asn;Gly103Arg;Thr104Ile;Leu105Val;Leu105Pro;Arg106Leu;Gly107Arg;Ile119Leu;Ile121Met;Tyr123Phe;Arg138Gln;Arg138=;Asp140Tyr;Asn151Lys;Lys168Gln;His175Arg;Glu176Val;Asp185Glu;Glu190Asp;Trp191Gly]) n.[532C>G;541C>G;546T>A;558G>C;575T>A;577G>A;583G>C;587C>T;589C>G;590T>C;593G>T;595G>C;631A>C;639A>G;644A>T;689G>A;690G>C;694G>T;729C>A;778A>C;800A>G;803A>T;831T>G;846G>C;847T>G] c.[172C>G;181C>G;186T>A;198G>C;215T>A;217G>A;223G>C;227C>T;229C>G;230T>C;233G>T;235G>C;271A>C;279A>G;284A>T;329G>A;330G>C;334G>T;369C>A;418A>C;440A>G;443A>T;471T>G;486G>C;487T>G] (p.[Gln58Glu;Arg61Gly;Asn62Lys;Gln66His;Val72Glu;Asp73Asn;Gly75Arg;Thr76Ile;Leu77Val;Leu77Pro;Arg78Leu;Gly79Arg;Ile91Leu;Ile93Met;Tyr95Phe;Arg110Gln;Arg110=;Asp112Tyr;Asn123Lys;Lys140Gln;His147Arg;Glu148Val;Asp157Glu;Glu162Asp;Trp163Gly]) n.[256C>G;265C>G;270T>A;282G>C;299T>A;301G>A;307G>C;311C>T;313C>G;314T>C;317G>T;319G>C;596A>C;604A>G;609A>T;654G>A;655G>C;659G>T;694C>A;743A>C;765A>G;768A>T;796T>G;811G>C;812T>G] n.[258C>G;267C>G;272T>A;284G>C;301T>A;303G>A;309G>C;313C>T;315C>G;316T>C;319G>T;321G>C;598A>C;606A>G;611A>T;656G>A;657G>C;661G>T;696C>A;745A>C;767A>G;770A>T;798T>G;813G>C;814T>G] n.[177+85C>G;177+94C>G;177+99T>A;177+111G>C;177+128T>A;177+130G>A;177+136G>C;177+140C>T;177+142C>G;177+143T>C;177+146G>T;177+148G>C;178-6A>C;180A>G;185A>T;230G>A;231G>C;235G>T;270C>A;319A>C;341A>G;344A>T;372T>G;387G>C;388T>G] | |
| 6 | g.[29942939C>G;29942948C>G;29942953T>A;29942965G>C;29942982T>A;29942984G>A;29942990G>C;29942994C>T;29942996C>G;29942997T>C;29943000G>T;29943002G>C;29943279A>C;29943287A>G;29943292A>T;29943337G>A;29943338G>C;29943342G>T;29943377C>A;29943451A>T;29943462T>C;29943463T>A;29943479T>G;29943494G>C;29943495T>G] | CA2573333715 | HLA-A | c.[256C>G;265C>G;270T>A;282G>C;299T>A;301G>A;307G>C;311C>T;313C>G;314T>C;317G>T;319G>C;355A>C;363A>G;368A>T;413G>A;414G>C;418G>T;453C>A;527A>T;538T>C;539T>A;555T>G;570G>C;571T>G] (p.[Gln86Glu;Arg89Gly;Asn90Lys;Gln94His;Val100Glu;Asp101Asn;Gly103Arg;Thr104Ile;Leu105Val;Leu105Pro;Arg106Leu;Gly107Arg;Ile119Leu;Ile121Met;Tyr123Phe;Arg138Gln;Arg138=;Asp140Tyr;Asn151Lys;Glu176Val;Leu180=;Leu180Ter]) n.[532C>G;541C>G;546T>A;558G>C;575T>A;577G>A;583G>C;587C>T;589C>G;590T>C;593G>T;595G>C;631A>C;639A>G;644A>T;689G>A;690G>C;694G>T;729C>A;803A>T;814T>C;815T>A;831T>G;846G>C;847T>G] c.[172C>G;181C>G;186T>A;198G>C;215T>A;217G>A;223G>C;227C>T;229C>G;230T>C;233G>T;235G>C;271A>C;279A>G;284A>T;329G>A;330G>C;334G>T;369C>A;443A>T;454T>C;455T>A;471T>G;486G>C;487T>G] (p.[Gln58Glu;Arg61Gly;Asn62Lys;Gln66His;Val72Glu;Asp73Asn;Gly75Arg;Thr76Ile;Leu77Val;Leu77Pro;Arg78Leu;Gly79Arg;Ile91Leu;Ile93Met;Tyr95Phe;Arg110Gln;Arg110=;Asp112Tyr;Asn123Lys;Glu148Val;Leu152=;Leu152Ter]) n.[256C>G;265C>G;270T>A;282G>C;299T>A;301G>A;307G>C;311C>T;313C>G;314T>C;317G>T;319G>C;596A>C;604A>G;609A>T;654G>A;655G>C;659G>T;694C>A;768A>T;779T>C;780T>A;796T>G;811G>C;812T>G] n.[258C>G;267C>G;272T>A;284G>C;301T>A;303G>A;309G>C;313C>T;315C>G;316T>C;319G>T;321G>C;598A>C;606A>G;611A>T;656G>A;657G>C;661G>T;696C>A;770A>T;781T>C;782T>A;798T>G;813G>C;814T>G] n.[177+85C>G;177+94C>G;177+99T>A;177+111G>C;177+128T>A;177+130G>A;177+136G>C;177+140C>T;177+142C>G;177+143T>C;177+146G>T;177+148G>C;178-6A>C;180A>G;185A>T;230G>A;231G>C;235G>T;270C>A;344A>T;355T>C;356T>A;372T>G;387G>C;388T>G] | |
| 6 | g.29942939C>T | CA363289868 | HLA-A | c.256C>T (p.Gln86Ter) n.532C>T c.172C>T (p.Gln58Ter) n.129G>A n.256C>T n.258C>T n.177+85C>T | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.29942939_29942940insGGC | CA3693096 | HLA-A | c.256_257insGGC (p.Asp85_Gln86insArg) n.532_533insGGC c.172_173insGGC (p.Asp57_Gln58insArg) n.129_130insCCG n.256_257insGGC n.258_259insGGC n.177+85_177+86insGGC | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.29942939_29942940del | CA3693097 | HLA-A | c.256_257del (p.Gln86GlyfsTer12) n.532_533del c.172_173del (p.Gln58GlyfsTer12) n.128_129del n.256_257del n.258_259del n.177+85_177+86del | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.29942939_29942940delinsCA | CA1618524103 | HLA-A | c.256_257delinsCA (p.Gln86=) n.532_533delinsCA c.172_173delinsCA (p.Gln58=) n.128_129delinsTG n.256_257delinsCA n.258_259delinsCA n.177+85_177+86delinsCA | |
| 6 | g.29942939_29942940delinsGG | CA136019945 | HLA-A | c.256_257delinsGG (p.Gln86Gly) n.532_533delinsGG c.172_173delinsGG (p.Gln58Gly) n.128_129delinsCC n.256_257delinsGG n.258_259delinsGG n.177+85_177+86delinsGG | dbSNP |
| 6 | g.29942939_29942941delinsCAG | CA1618524102 | HLA-A | c.256_258delinsCAG (p.Gln86=) n.532_534delinsCAG c.172_174delinsCAG (p.Gln58=) n.127_129delinsCTG n.256_258delinsCAG n.258_260delinsCAG n.177+85_177+87delinsCAG | |
| 6 | g.29942939_29942940insGG | CA2677794373 | HLA-A | c.256_257insGG (p.Gln86ArgfsTer7) n.532_533insGG c.172_173insGG (p.Gln58ArgfsTer7) n.128_129insCC n.256_257insGG n.258_259insGG n.177+85_177+86insGG | gnomAD v4 |
| 6 | g.29942939_29942940insGGAACACACAGATCG | CA2677794372 | HLA-A | c.256_257insGGAACACACAGATCG (p.Gln86delinsArgAsnThrGlnIleGlu) n.532_533insGGAACACACAGATCG c.172_173insGGAACACACAGATCG (p.Gln58delinsArgAsnThrGlnIleGlu) n.128_129insCGATCTGTGTGTTCC n.256_257insGGAACACACAGATCG n.258_259insGGAACACACAGATCG n.177+85_177+86insGGAACACACAGATCG | gnomAD v4 |
| 6 | g.29942939_29942940insGGAACACACAGATCTG | CA2677794371 | HLA-A | c.256_257insGGAACACACAGATCTG (p.Gln86ArgfsTer6) n.532_533insGGAACACACAGATCTG c.172_173insGGAACACACAGATCTG (p.Gln58ArgfsTer6) n.128_129insCAGATCTGTGTGTTCC n.256_257insGGAACACACAGATCTG n.258_259insGGAACACACAGATCTG n.177+85_177+86insGGAACACACAGATCTG | gnomAD v4 |
| 6 | g.29942939_29942940insGGCAGACAGAGATCTCCAAGACCAACGCACAGATTGACCTAGAGAGCCTGCGGATCGCGCTCCGCTACTACAACCAGAGCG | CA2677794370 | HLA-A | c.256_257insGGCAGACAGAGATCTCCAAGACCAACGCACAGATTGACCTAGAGAGCCTGCGGATCGCGCTCCGCTACTACAACCAGAGCG (p.Gln86delinsArgGlnThrGluIleSerLysThrAsnAlaGlnIleAspLeuGluSerLeuArgIleAlaLeuArgTyrTyrAsnGlnSerGlu) n.532_533insGGCAGACAGAGATCTCCAAGACCAACGCACAGATTGACCTAGAGAGCCTGCGGATCGCGCTCCGCTACTACAACCAGAGCG c.172_173insGGCAGACAGAGATCTCCAAGACCAACGCACAGATTGACCTAGAGAGCCTGCGGATCGCGCTCCGCTACTACAACCAGAGCG (p.Gln58delinsArgGlnThrGluIleSerLysThrAsnAlaGlnIleAspLeuGluSerLeuArgIleAlaLeuArgTyrTyrAsnGlnSerGlu) n.128_129insCGCTCTGGTTGTAGTAGCGGAGCGCGATCCGCAGGCTCTCTAGGTCAATCTGTGCGTTGGTCTTGGAGATCTCTGTCTGCC n.256_257insGGCAGACAGAGATCTCCAAGACCAACGCACAGATTGACCTAGAGAGCCTGCGGATCGCGCTCCGCTACTACAACCAGAGCG n.258_259insGGCAGACAGAGATCTCCAAGACCAACGCACAGATTGACCTAGAGAGCCTGCGGATCGCGCTCCGCTACTACAACCAGAGCG n.177+85_177+86insGGCAGACAGAGATCTCCAAGACCAACGCACAGATTGACCTAGAGAGCCTGCGGATCGCGCTCCGCTACTACAACCAGAGCG | gnomAD v4 |
| 6 | g.29942940del | CA3693099 | HLA-A | c.257del (p.Gln86ArgfsTer6) n.533del c.173del (p.Gln58ArgfsTer6) n.128del n.257del n.259del n.177+86del | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 6 | g.29942940A= | CA1618524126 | HLA-A | c.257A= (p.Gln86=) n.533A= c.173A= (p.Gln58=) n.128T= n.257A= n.259A= n.177+86A= | |
| 6 | g.29942940A>C | CA136019951 | HLA-A | c.257A>C (p.Gln86Pro) n.533A>C c.173A>C (p.Gln58Pro) n.128T>G n.257A>C n.259A>C n.177+86A>C | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.29942940A>G | CA3693101 | HLA-A | c.257A>G (p.Gln86Arg) n.533A>G c.173A>G (p.Gln58Arg) n.128T>C n.257A>G n.259A>G n.177+86A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.[29942940A>G;29942942G>A;29942944G>C] | CA2573333721 | HLA-A | c.[257A>G;259G>A;261G>C] (p.[Gln86Arg;Glu87Lys;Glu87Asp]) n.[533A>G;535G>A;537G>C] c.[173A>G;175G>A;177G>C] (p.[Gln58Arg;Glu59Lys;Glu59Asp]) n.[124C>G;126C>T;128T>C] n.[257A>G;259G>A;261G>C] n.[259A>G;261G>A;263G>C] n.[177+86A>G;177+88G>A;177+90G>C] | |
| 6 | g.[29942940A>G;29942942G>A;29942944G>C;29942965G>C;29942982T>A;29942984G>A;29942985A>G;29942990G>C;29942994C>T;29942996C>G;29942997T>C;29943000G>T;29943002G>C;29943024C>A;29943286T>G;29943287A>G;29943309T>C;29943337G>A;29943347C>T;29943426A>C;29943441G>A;29943451A>T;29943479T>G;29943483A>C;29943484C>G] | CA2573333719 | HLA-A | c.[257A>G;259G>A;261G>C;282G>C;299T>A;301G>A;302A>G;307G>C;311C>T;313C>G;314T>C;317G>T;319G>C;341C>A;362T>G;363A>G;385T>C;413G>A;423C>T;502A>C;517G>A;527A>T;555T>G;559A>C;560C>G] (p.[Gln86Arg;Glu87Lys;Glu87Asp;Gln94His;Val100Glu;Asp101Asn;Asp101Gly;Gly103Arg;Thr104Ile;Leu105Val;Leu105Pro;Arg106Leu;Gly107Arg;Ala114Asp;Ile121Arg;Ile121Met;Ser129Pro;Arg138Gln;Ala141=;Lys168Gln;Ala173Thr;Glu176Val;Asp185Glu;Thr187Pro;Thr187Arg]) n.[533A>G;535G>A;537G>C;558G>C;575T>A;577G>A;578A>G;583G>C;587C>T;589C>G;590T>C;593G>T;595G>C;617C>A;638T>G;639A>G;661T>C;689G>A;699C>T;778A>C;793G>A;803A>T;831T>G;835A>C;836C>G] c.[173A>G;175G>A;177G>C;198G>C;215T>A;217G>A;218A>G;223G>C;227C>T;229C>G;230T>C;233G>T;235G>C;257C>A;278T>G;279A>G;301T>C;329G>A;339C>T;418A>C;433G>A;443A>T;471T>G;475A>C;476C>G] (p.[Gln58Arg;Glu59Lys;Glu59Asp;Gln66His;Val72Glu;Asp73Asn;Asp73Gly;Gly75Arg;Thr76Ile;Leu77Val;Leu77Pro;Arg78Leu;Gly79Arg;Ala86Asp;Ile93Arg;Ile93Met;Ser101Pro;Arg110Gln;Ala113=;Lys140Gln;Ala145Thr;Glu148Val;Asp157Glu;Thr159Pro;Thr159Arg]) n.[257A>G;259G>A;261G>C;282G>C;299T>A;301G>A;302A>G;307G>C;311C>T;313C>G;314T>C;317G>T;319G>C;341C>A;603T>G;604A>G;626T>C;654G>A;664C>T;743A>C;758G>A;768A>T;796T>G;800A>C;801C>G] n.[259A>G;261G>A;263G>C;284G>C;301T>A;303G>A;304A>G;309G>C;313C>T;315C>G;316T>C;319G>T;321G>C;343C>A;605T>G;606A>G;628T>C;656G>A;666C>T;745A>C;760G>A;770A>T;798T>G;802A>C;803C>G] n.[177+86A>G;177+88G>A;177+90G>C;177+111G>C;177+128T>A;177+130G>A;177+131A>G;177+136G>C;177+140C>T;177+142C>G;177+143T>C;177+146G>T;177+148G>C;177+170C>A;179T>G;180A>G;202T>C;230G>A;240C>T;319A>C;334G>A;344A>T;372T>G;376A>C;377C>G] | |
| 6 | g.[29942940A>G;29942942G>A;29942944G>C;29942965G>C;29942982T>A;29942984G>A;29942985A>G;29942990G>C;29942994C>T;29942996C>G;29942997T>C;29943000G>T;29943002G>C;29943024C>A;29943286T>G;29943287A>G;29943309T>C;29943337G>A;29943347C>T;29943426A>C;29943441G>A;29943463T>G;29943479T>G;29943483A>C;29943484C>G] | CA2573333720 | HLA-A | c.[257A>G;259G>A;261G>C;282G>C;299T>A;301G>A;302A>G;307G>C;311C>T;313C>G;314T>C;317G>T;319G>C;341C>A;362T>G;363A>G;385T>C;413G>A;423C>T;502A>C;517G>A;539T>G;555T>G;559A>C;560C>G] (p.[Gln86Arg;Glu87Lys;Glu87Asp;Gln94His;Val100Glu;Asp101Asn;Asp101Gly;Gly103Arg;Thr104Ile;Leu105Val;Leu105Pro;Arg106Leu;Gly107Arg;Ala114Asp;Ile121Arg;Ile121Met;Ser129Pro;Arg138Gln;Ala141=;Lys168Gln;Ala173Thr;Leu180Trp;Asp185Glu;Thr187Pro;Thr187Arg]) n.[533A>G;535G>A;537G>C;558G>C;575T>A;577G>A;578A>G;583G>C;587C>T;589C>G;590T>C;593G>T;595G>C;617C>A;638T>G;639A>G;661T>C;689G>A;699C>T;778A>C;793G>A;815T>G;831T>G;835A>C;836C>G] c.[173A>G;175G>A;177G>C;198G>C;215T>A;217G>A;218A>G;223G>C;227C>T;229C>G;230T>C;233G>T;235G>C;257C>A;278T>G;279A>G;301T>C;329G>A;339C>T;418A>C;433G>A;455T>G;471T>G;475A>C;476C>G] (p.[Gln58Arg;Glu59Lys;Glu59Asp;Gln66His;Val72Glu;Asp73Asn;Asp73Gly;Gly75Arg;Thr76Ile;Leu77Val;Leu77Pro;Arg78Leu;Gly79Arg;Ala86Asp;Ile93Arg;Ile93Met;Ser101Pro;Arg110Gln;Ala113=;Lys140Gln;Ala145Thr;Leu152Trp;Asp157Glu;Thr159Pro;Thr159Arg]) n.[257A>G;259G>A;261G>C;282G>C;299T>A;301G>A;302A>G;307G>C;311C>T;313C>G;314T>C;317G>T;319G>C;341C>A;603T>G;604A>G;626T>C;654G>A;664C>T;743A>C;758G>A;780T>G;796T>G;800A>C;801C>G] n.[259A>G;261G>A;263G>C;284G>C;301T>A;303G>A;304A>G;309G>C;313C>T;315C>G;316T>C;319G>T;321G>C;343C>A;605T>G;606A>G;628T>C;656G>A;666C>T;745A>C;760G>A;782T>G;798T>G;802A>C;803C>G] n.[177+86A>G;177+88G>A;177+90G>C;177+111G>C;177+128T>A;177+130G>A;177+131A>G;177+136G>C;177+140C>T;177+142C>G;177+143T>C;177+146G>T;177+148G>C;177+170C>A;179T>G;180A>G;202T>C;230G>A;240C>T;319A>C;334G>A;356T>G;372T>G;376A>C;377C>G] | |
| 6 | g.29942940A>T | CA3693102 | HLA-A | c.257A>T (p.Gln86Leu) n.533A>T c.173A>T (p.Gln58Leu) n.128T>A n.257A>T n.259A>T n.177+86A>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.[29942940A>T;29942942G>C] | CA2573333722 | HLA-A | c.[257A>T;259G>C] (p.[Gln86Leu;Glu87Gln]) n.[533A>T;535G>C] c.[173A>T;175G>C] (p.[Gln58Leu;Glu59Gln]) n.[126C>G;128T>A] n.[257A>T;259G>C] n.[259A>T;261G>C] n.[177+86A>T;177+88G>C] | |
| 6 | g.29942940_29942941del | CA3693100 | HLA-A | c.257_258del (p.Gln86ArgfsTer12) n.533_534del c.173_174del (p.Gln58ArgfsTer12) n.127_128del n.257_258del n.259_260del n.177+86_177+87del | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 6 | g.29942940_29942942delinsAGG | CA1618524118 | HLA-A | c.257_259delinsAGG (p.Gln86=) n.533_535delinsAGG c.173_175delinsAGG (p.Gln58=) n.126_128delinsCCT n.257_259delinsAGG n.259_261delinsAGG n.177+86_177+88delinsAGG | |
| 6 | g.29942940_29942942delinsGGA | CA2573332023 | HLA-A | c.257_259delinsGGA (p.Gln86_Glu87delinsArgLys) n.533_535delinsGGA c.173_175delinsGGA (p.Gln58_Glu59delinsArgLys) n.126_128delinsTCC n.257_259delinsGGA n.259_261delinsGGA n.177+86_177+88delinsGGA | |
| 6 | g.29942940_29942942delinsTGC | CA136019950 | HLA-A | c.257_259delinsTGC (p.Gln86_Glu87delinsLeuGln) n.533_535delinsTGC c.173_175delinsTGC (p.Gln58_Glu59delinsLeuGln) n.126_128delinsGCA n.257_259delinsTGC n.259_261delinsTGC n.177+86_177+88delinsTGC | dbSNP |
| 6 | g.29942940_29942944delinsAGGAG | CA1618524122 | HLA-A | c.257_261delinsAGGAG (p.Gln86=) n.533_537delinsAGGAG c.173_177delinsAGGAG (p.Gln58=) n.124_128delinsCTCCT n.257_261delinsAGGAG n.259_263delinsAGGAG n.177+86_177+90delinsAGGAG | |
| 6 | g.29942940_29942944delinsGGAAC | CA917707111 | HLA-A | c.257_261delinsGGAAC (p.Gln86_Glu87delinsArgAsn) n.533_537delinsGGAAC c.173_177delinsGGAAC (p.Gln58_Glu59delinsArgAsn) n.124_128delinsGTTCC n.257_261delinsGGAAC n.259_263delinsGGAAC n.177+86_177+90delinsGGAAC | dbSNP |
| 6 | g.29942940_29942947del | CA2517225783 | HLA-A | c.257_264del (p.Gln86ProfsTer10) n.533_540del c.173_180del (p.Gln58ProfsTer10) n.121_128del n.257_264del n.259_266del n.177+86_177+93del | |
| 6 | g.29942940_29942976del | CA2677794369 | HLA-A | c.257_293del (p.Gln86ProfsTer24) n.533_569del c.173_209del (p.Gln58ProfsTer24) n.92_128del n.257_293del n.259_295del n.177+86_177+122del | gnomAD v4 |
| 6 | g.29942940_29942941insCC | CA2677794374 | HLA-A | c.257_258insCC (p.Gln86HisfsTer7) n.533_534insCC c.173_174insCC (p.Gln58HisfsTer7) n.127_128insGG n.257_258insCC n.259_260insCC n.177+86_177+87insCC | gnomAD v4 |
| 6 | g.29942941G>A | CA3693104 | HLA-A | c.258G>A (p.Gln86=) n.534G>A c.174G>A (p.Gln58=) n.127C>T n.258G>A n.260G>A n.177+87G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.29942941G>C | CA136019966 | HLA-A | c.258G>C (p.Gln86His) n.534G>C c.174G>C (p.Gln58His) n.127C>G n.258G>C n.260G>C n.177+87G>C | dbSNP gnomAD v4 |
| 6 | g.29942941G= | CA1618524134 | HLA-A | c.258G= (p.Gln86=) n.534G= c.174G= (p.Gln58=) n.127C= n.258G= n.260G= n.177+87G= | |
| 6 | g.29942941G>T | CA136019961 | HLA-A | c.258G>T (p.Gln86His) n.534G>T c.174G>T (p.Gln58His) n.127C>A n.258G>T n.260G>T n.177+87G>T | dbSNP gnomAD v4 |