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.29942789G>A | CA3693025 | HLA-A | c.106G>A (p.Val36Met) n.382G>A c.22G>A (p.Val8Met) n.279C>T n.106G>A n.108G>A n.112G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.[29942789G>A;29942886G>A;29942954G>A;29942965G>C;29942982T>C;29942984G>A;29943024C>A;29943309T>C;29943413G>A;29943445C>T;29943451A>C;29943462T>C;29943463T>G;29943469C>T;29943479T>G;29943483A>C;29943484C>G;29943494G>C;29943495T>G] | CA2573332990 | HLA-A | c.[106G>A;203G>A;271G>A;282G>C;299T>C;301G>A;341C>A;385T>C;489G>A;521C>T;527A>C;538T>C;539T>G;545C>T;555T>G;559A>C;560C>G;570G>C;571T>G] (p.[Val36Met;Arg68Lys;Val91Met;Gln94His;Val100Ala;Asp101Asn;Ala114Asp;Ser129Pro;Ala163=;Ala174Val;Glu176Ala;Leu180=;Leu180Trp;Ala182Val;Asp185Glu;Thr187Pro;Thr187Arg;Glu190Asp;Trp191Gly]) n.[382G>A;479G>A;547G>A;558G>C;575T>C;577G>A;617C>A;661T>C;765G>A;797C>T;803A>C;814T>C;815T>G;821C>T;831T>G;835A>C;836C>G;846G>C;847T>G] c.[22G>A;119G>A;187G>A;198G>C;215T>C;217G>A;257C>A;301T>C;405G>A;437C>T;443A>C;454T>C;455T>G;461C>T;471T>G;475A>C;476C>G;486G>C;487T>G] (p.[Val8Met;Arg40Lys;Val63Met;Gln66His;Val72Ala;Asp73Asn;Ala86Asp;Ser101Pro;Ala135=;Ala146Val;Glu148Ala;Leu152=;Leu152Trp;Ala154Val;Asp157Glu;Thr159Pro;Thr159Arg;Glu162Asp;Trp163Gly]) n.[106G>A;203G>A;271G>A;282G>C;299T>C;301G>A;341C>A;626T>C;730G>A;762C>T;768A>C;779T>C;780T>G;786C>T;796T>G;800A>C;801C>G;811G>C;812T>G] n.[108G>A;205G>A;273G>A;284G>C;301T>C;303G>A;343C>A;628T>C;732G>A;764C>T;770A>C;781T>C;782T>G;788C>T;798T>G;802A>C;803C>G;813G>C;814T>G] n.[112G>A;177+32G>A;177+100G>A;177+111G>C;177+128T>C;177+130G>A;177+170C>A;202T>C;306G>A;338C>T;344A>C;355T>C;356T>G;362C>T;372T>G;376A>C;377C>G;387G>C;388T>G] | |
| 6 | g.[29942789G>A;29942939C>G;29942940A>G;29942953T>A;29942965G>C;29942975G>C;29943286T>G;29943287A>G;29943309T>C;29943337G>A;29943338G>C;29943342G>T;29943377C>A;29943413G>A;29943421T>C;29943430G>A;29943451A>T;29943463T>G;29943479T>G] | CA2573332991 | HLA-A | c.[106G>A;256C>G;257A>G;270T>A;282G>C;292G>C;362T>G;363A>G;385T>C;413G>A;414G>C;418G>T;453C>A;489G>A;497T>C;506G>A;527A>T;539T>G;555T>G] (p.[Val36Met;Gln86Glu;Gln86Arg;Asn90Lys;Gln94His;Asp98His;Ile121Arg;Ile121Met;Ser129Pro;Arg138Gln;Arg138=;Asp140Tyr;Asn151Lys;Ala163=;Ile166Thr;Arg169His;Glu176Val;Leu180Trp;Asp185Glu]) n.[382G>A;532C>G;533A>G;546T>A;558G>C;568G>C;638T>G;639A>G;661T>C;689G>A;690G>C;694G>T;729C>A;765G>A;773T>C;782G>A;803A>T;815T>G;831T>G] c.[22G>A;172C>G;173A>G;186T>A;198G>C;208G>C;278T>G;279A>G;301T>C;329G>A;330G>C;334G>T;369C>A;405G>A;413T>C;422G>A;443A>T;455T>G;471T>G] (p.[Val8Met;Gln58Glu;Gln58Arg;Asn62Lys;Gln66His;Asp70His;Ile93Arg;Ile93Met;Ser101Pro;Arg110Gln;Arg110=;Asp112Tyr;Asn123Lys;Ala135=;Ile138Thr;Arg141His;Glu148Val;Leu152Trp;Asp157Glu]) n.[106G>A;256C>G;257A>G;270T>A;282G>C;292G>C;603T>G;604A>G;626T>C;654G>A;655G>C;659G>T;694C>A;730G>A;738T>C;747G>A;768A>T;780T>G;796T>G] n.[108G>A;258C>G;259A>G;272T>A;284G>C;294G>C;605T>G;606A>G;628T>C;656G>A;657G>C;661G>T;696C>A;732G>A;740T>C;749G>A;770A>T;782T>G;798T>G] n.[112G>A;177+85C>G;177+86A>G;177+99T>A;177+111G>C;177+121G>C;179T>G;180A>G;202T>C;230G>A;231G>C;235G>T;270C>A;306G>A;314T>C;323G>A;344A>T;356T>G;372T>G] | |
| 6 | g.29942789G>C | CA136019042 | HLA-A | c.106G>C (p.Val36Leu) n.382G>C c.22G>C (p.Val8Leu) n.279C>G n.106G>C n.108G>C n.112G>C | dbSNP gnomAD v4 |
| 6 | g.[29942789G>C;29943451A>T;29943462T>C;29943463T>A] | CA2573332992 | HLA-A | c.[106G>C;527A>T;538T>C;539T>A] (p.[Val36Leu;Glu176Val;Leu180=;Leu180Ter]) n.[382G>C;803A>T;814T>C;815T>A] c.[22G>C;443A>T;454T>C;455T>A] (p.[Val8Leu;Glu148Val;Leu152=;Leu152Ter]) n.[106G>C;768A>T;779T>C;780T>A] n.[108G>C;770A>T;781T>C;782T>A] n.[112G>C;344A>T;355T>C;356T>A] | |
| 6 | g.29942789G= | CA1618523585 | HLA-A | c.106G= (p.Val36=) n.382G= c.22G= (p.Val8=) n.279C= n.106G= n.108G= n.112G= | |
| 6 | g.29942789G>T | CA363289642 | HLA-A | c.106G>T (p.Val36Leu) n.382G>T c.22G>T (p.Val8Leu) n.279C>A n.106G>T n.108G>T n.112G>T | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.29942789_29942790insCCA | CA2677793899 | HLA-A | c.106_107insCCA (p.Val36delinsAlaMet) n.382_383insCCA c.22_23insCCA (p.Val8delinsAlaMet) n.278_279insTGG n.106_107insCCA n.108_109insCCA n.112_113insCCA | gnomAD v4 |
| 6 | g.29942790T>A | CA363289643 | HLA-A | c.107T>A (p.Val36Glu) n.383T>A c.23T>A (p.Val8Glu) n.278A>T n.107T>A n.109T>A n.113T>A | dbSNP gnomAD v4 |
| 6 | g.29942790T>C | CA136019047 | HLA-A | c.107T>C (p.Val36Ala) n.383T>C c.23T>C (p.Val8Ala) n.278A>G n.107T>C n.109T>C n.113T>C | dbSNP gnomAD v4 |
| 6 | g.29942790T>G | CA136019048 | HLA-A | c.107T>G (p.Val36Gly) n.383T>G c.23T>G (p.Val8Gly) n.278A>C n.107T>G n.109T>G n.113T>G | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.29942790T= | CA1618523592 | HLA-A | c.107T= (p.Val36=) n.383T= c.23T= (p.Val8=) n.278A= n.107T= n.109T= n.113T= | |
| 6 | g.29942791G>A | CA449461028 | HLA-A | c.108G>A (p.Val36=) n.384G>A c.24G>A (p.Val8=) n.277C>T n.108G>A n.110G>A n.114G>A | gnomAD v3 gnomAD v4 |
| 6 | g.29942791G>C | CA3693026 | HLA-A | c.108G>C (p.Val36=) n.384G>C c.24G>C (p.Val8=) n.277C>G n.108G>C n.110G>C n.114G>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.29942791G= | CA1618523595 | HLA-A | c.108G= (p.Val36=) n.384G= c.24G= (p.Val8=) n.277C= n.108G= n.110G= n.114G= | |
| 6 | g.29942791G>T | CA449461029 | HLA-A | c.108G>T (p.Val36=) n.384G>T c.24G>T (p.Val8=) n.277C>A n.108G>T n.110G>T n.114G>T | gnomAD v3 gnomAD v4 |
| 6 | g.29942792T>A | CA363289646 | HLA-A | c.109T>A (p.Ser37Thr) n.385T>A c.25T>A (p.Ser9Thr) n.276A>T n.109T>A n.111T>A n.115T>A | gnomAD v3 gnomAD v4 |
| 6 | g.29942792T>C | CA363289645 | HLA-A | c.109T>C (p.Ser37Pro) n.385T>C c.25T>C (p.Ser9Pro) n.276A>G n.109T>C n.111T>C n.115T>C | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.29942792T>G | CA363289644 | HLA-A | c.109T>G (p.Ser37Ala) n.385T>G c.25T>G (p.Ser9Ala) n.276A>C n.109T>G n.111T>G n.115T>G | gnomAD v3 gnomAD v4 |
| 6 | g.29942792T= | CA1618523597 | HLA-A | c.109T= (p.Ser37=) n.385T= c.25T= (p.Ser9=) n.276A= n.109T= n.111T= n.115T= | |
| 6 | g.29942792_29942794delinsTCC | CA1618523598 | HLA-A | c.109_111delinsTCC (p.Ser37=) n.385_387delinsTCC c.25_27delinsTCC (p.Ser9=) n.274_276delinsGGA n.109_111delinsTCC n.111_113delinsTCC n.115_117delinsTCC | |
| 6 | g.29942793C>A | CA363289647 | HLA-A | c.110C>A (p.Ser37Tyr) n.386C>A c.26C>A (p.Ser9Tyr) n.275G>T n.110C>A n.112C>A n.116C>A | gnomAD v4 |
| 6 | g.29942793C= | CA1618523604 | HLA-A | c.110C= (p.Ser37=) n.386C= c.26C= (p.Ser9=) n.275G= n.110C= n.112C= n.116C= | |
| 6 | g.29942793C>G | CA136019049 | HLA-A | c.110C>G (p.Ser37Cys) n.386C>G c.26C>G (p.Ser9Cys) n.275G>C n.110C>G n.112C>G n.116C>G | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.29942793C>T | CA136019050 | HLA-A | c.110C>T (p.Ser37Phe) n.386C>T c.26C>T (p.Ser9Phe) n.275G>A n.110C>T n.112C>T n.116C>T | dbSNP gnomAD v4 |
| 6 | g.29942795del | CA2677793901 | HLA-A | c.112del (p.Arg38GlyfsTer?) n.388del c.28del (p.Arg10GlyfsTer?) n.275del n.112del n.114del n.118del | gnomAD v4 |
| 6 | g.29942794_29942795del | CA566285731 | HLA-A | c.111_112del (p.Arg38AlafsTer?) n.387_388del c.27_28del (p.Arg10AlafsTer?) n.274_275del n.111_112del n.113_114del n.117_118del | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.29942800_29942804del | CA645547630 | HLA-A | c.117_121del (p.Gly40ArgfsTer?) n.393_397del c.33_37del (p.Gly12ArgfsTer?) n.271_275del n.117_121del n.119_123del n.123_127del | gnomAD v4 COSMIC COSMIC |
| 6 | g.29942794C>A | CA3693027 | HLA-A | c.111C>A (p.Ser37=) n.387C>A c.27C>A (p.Ser9=) n.274G>T n.111C>A n.113C>A n.117C>A | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 6 | g.29942794C= | CA1618523610 | HLA-A | c.111C= (p.Ser37=) n.387C= c.27C= (p.Ser9=) n.274G= n.111C= n.113C= n.117C= | |
| 6 | g.29942794C>G | CA449461030 | HLA-A | c.111C>G (p.Ser37=) n.387C>G c.27C>G (p.Ser9=) n.274G>C n.111C>G n.113C>G n.117C>G | gnomAD v4 |
| 6 | g.29942794C>T | CA136019052 | HLA-A | c.111C>T (p.Ser37=) n.387C>T c.27C>T (p.Ser9=) n.274G>A n.111C>T n.113C>T n.117C>T | dbSNP gnomAD v4 |
| 6 | g.29942795C>A | CA3693029 | HLA-A | c.112C>A (p.Arg38=) n.388C>A c.28C>A (p.Arg10=) n.273G>T n.112C>A n.114C>A n.118C>A | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 6 | g.[29942795C>A;29942886G>A;29942954G>A;29942965G>C;29942982T>C;29942984G>A;29943024C>A;29943309T>C;29943413G>A;29943445C>T;29943451A>C;29943462T>C;29943463T>G;29943469C>T;29943479T>G;29943483A>C;29943484C>G;29943494G>C;29943495T>G] | CA2573332998 | HLA-A | c.[112C>A;203G>A;271G>A;282G>C;299T>C;301G>A;341C>A;385T>C;489G>A;521C>T;527A>C;538T>C;539T>G;545C>T;555T>G;559A>C;560C>G;570G>C;571T>G] (p.[Arg38=;Arg68Lys;Val91Met;Gln94His;Val100Ala;Asp101Asn;Ala114Asp;Ser129Pro;Ala163=;Ala174Val;Glu176Ala;Leu180=;Leu180Trp;Ala182Val;Asp185Glu;Thr187Pro;Thr187Arg;Glu190Asp;Trp191Gly]) n.[388C>A;479G>A;547G>A;558G>C;575T>C;577G>A;617C>A;661T>C;765G>A;797C>T;803A>C;814T>C;815T>G;821C>T;831T>G;835A>C;836C>G;846G>C;847T>G] c.[28C>A;119G>A;187G>A;198G>C;215T>C;217G>A;257C>A;301T>C;405G>A;437C>T;443A>C;454T>C;455T>G;461C>T;471T>G;475A>C;476C>G;486G>C;487T>G] (p.[Arg10=;Arg40Lys;Val63Met;Gln66His;Val72Ala;Asp73Asn;Ala86Asp;Ser101Pro;Ala135=;Ala146Val;Glu148Ala;Leu152=;Leu152Trp;Ala154Val;Asp157Glu;Thr159Pro;Thr159Arg;Glu162Asp;Trp163Gly]) n.[112C>A;203G>A;271G>A;282G>C;299T>C;301G>A;341C>A;626T>C;730G>A;762C>T;768A>C;779T>C;780T>G;786C>T;796T>G;800A>C;801C>G;811G>C;812T>G] n.[114C>A;205G>A;273G>A;284G>C;301T>C;303G>A;343C>A;628T>C;732G>A;764C>T;770A>C;781T>C;782T>G;788C>T;798T>G;802A>C;803C>G;813G>C;814T>G] n.[118C>A;177+32G>A;177+100G>A;177+111G>C;177+128T>C;177+130G>A;177+170C>A;202T>C;306G>A;338C>T;344A>C;355T>C;356T>G;362C>T;372T>G;376A>C;377C>G;387G>C;388T>G] | |
| 6 | g.29942795C= | CA1618523613 | HLA-A | c.112C= (p.Arg38=) n.388C= c.28C= (p.Arg10=) n.273G= n.112C= n.114C= n.118C= | |
| 6 | g.29942795C>G | CA363289648 | HLA-A | c.112C>G (p.Arg38Gly) n.388C>G c.28C>G (p.Arg10Gly) n.273G>C n.112C>G n.114C>G n.118C>G | gnomAD v4 |
| 6 | g.29942795C>T | CA3693028 | HLA-A | c.112C>T (p.Arg38Trp) n.388C>T c.28C>T (p.Arg10Trp) n.273G>A n.112C>T n.114C>T n.118C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.[29942795C>T;29942886G>A;29942954G>A;29942965G>C;29942982T>C;29942984G>A;29943024C>A;29943309T>C;29943413G>A;29943445C>T;29943451A>C;29943462T>C;29943463T>G;29943469C>T;29943479T>G;29943483A>C;29943484C>G;29943494G>C;29943495T>G] | CA2573332999 | HLA-A | c.[112C>T;203G>A;271G>A;282G>C;299T>C;301G>A;341C>A;385T>C;489G>A;521C>T;527A>C;538T>C;539T>G;545C>T;555T>G;559A>C;560C>G;570G>C;571T>G] (p.[Arg38Trp;Arg68Lys;Val91Met;Gln94His;Val100Ala;Asp101Asn;Ala114Asp;Ser129Pro;Ala163=;Ala174Val;Glu176Ala;Leu180=;Leu180Trp;Ala182Val;Asp185Glu;Thr187Pro;Thr187Arg;Glu190Asp;Trp191Gly]) n.[388C>T;479G>A;547G>A;558G>C;575T>C;577G>A;617C>A;661T>C;765G>A;797C>T;803A>C;814T>C;815T>G;821C>T;831T>G;835A>C;836C>G;846G>C;847T>G] c.[28C>T;119G>A;187G>A;198G>C;215T>C;217G>A;257C>A;301T>C;405G>A;437C>T;443A>C;454T>C;455T>G;461C>T;471T>G;475A>C;476C>G;486G>C;487T>G] (p.[Arg10Trp;Arg40Lys;Val63Met;Gln66His;Val72Ala;Asp73Asn;Ala86Asp;Ser101Pro;Ala135=;Ala146Val;Glu148Ala;Leu152=;Leu152Trp;Ala154Val;Asp157Glu;Thr159Pro;Thr159Arg;Glu162Asp;Trp163Gly]) n.[112C>T;203G>A;271G>A;282G>C;299T>C;301G>A;341C>A;626T>C;730G>A;762C>T;768A>C;779T>C;780T>G;786C>T;796T>G;800A>C;801C>G;811G>C;812T>G] n.[114C>T;205G>A;273G>A;284G>C;301T>C;303G>A;343C>A;628T>C;732G>A;764C>T;770A>C;781T>C;782T>G;788C>T;798T>G;802A>C;803C>G;813G>C;814T>G] n.[118C>T;177+32G>A;177+100G>A;177+111G>C;177+128T>C;177+130G>A;177+170C>A;202T>C;306G>A;338C>T;344A>C;355T>C;356T>G;362C>T;372T>G;376A>C;377C>G;387G>C;388T>G] | |
| 6 | g.29942795_29942796del | CA2677793902 | HLA-A | c.112_113del (p.Arg38AlafsTer?) n.388_389del c.28_29del (p.Arg10AlafsTer?) n.272_273del n.112_113del n.114_115del n.118_119del | gnomAD v4 |
| 6 | g.29942796G>A | CA136019064 | HLA-A | c.113G>A (p.Arg38Gln) n.389G>A c.29G>A (p.Arg10Gln) n.272C>T n.113G>A n.115G>A n.119G>A | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.[29942796G>A;29942863C>T;29942965G>C;29943287A>G;29943309T>C;29943321T>C;29943337G>A;29943372C>T;29943426A>C;29943448A>G;29943451A>T;29943479T>G] | CA2573333000 | HLA-A | c.[113G>A;180C>T;282G>C;363A>G;385T>C;397T>C;413G>A;448C>T;502A>C;524A>G;527A>T;555T>G] (p.[Arg38Gln;Phe60=;Gln94His;Ile121Met;Ser129Pro;Phe133Leu;Arg138Gln;Leu150=;Lys168Gln;His175Arg;Glu176Val;Asp185Glu]) n.[389G>A;456C>T;558G>C;639A>G;661T>C;673T>C;689G>A;724C>T;778A>C;800A>G;803A>T;831T>G] c.[29G>A;96C>T;198G>C;279A>G;301T>C;313T>C;329G>A;364C>T;418A>C;440A>G;443A>T;471T>G] (p.[Arg10Gln;Phe32=;Gln66His;Ile93Met;Ser101Pro;Phe105Leu;Arg110Gln;Leu122=;Lys140Gln;His147Arg;Glu148Val;Asp157Glu]) n.[113G>A;180C>T;282G>C;604A>G;626T>C;638T>C;654G>A;689C>T;743A>C;765A>G;768A>T;796T>G] n.[115G>A;182C>T;284G>C;606A>G;628T>C;640T>C;656G>A;691C>T;745A>C;767A>G;770A>T;798T>G] n.[119G>A;177+9C>T;177+111G>C;180A>G;202T>C;214T>C;230G>A;265C>T;319A>C;341A>G;344A>T;372T>G] | |
| 6 | g.[29942796G>A;29942972A>T] | CA2573333001 | HLA-A | c.[113G>A;289A>T] (p.[Arg38Gln;Thr97Ser]) n.[389G>A;565A>T] c.[29G>A;205A>T] (p.[Arg10Gln;Thr69Ser]) n.[96T>A;272C>T] n.[113G>A;289A>T] n.[115G>A;291A>T] n.[119G>A;177+118A>T] | |
| 6 | g.29942796G>C | CA3693030 | HLA-A | c.113G>C (p.Arg38Pro) n.389G>C c.29G>C (p.Arg10Pro) n.272C>G n.113G>C n.115G>C n.119G>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.[29942796G>C;29942886G>A;29942954G>A;29942965G>C;29942982T>C;29942984G>A;29943024C>A;29943309T>C;29943413G>A;29943445C>T;29943451A>C;29943462T>C;29943463T>G;29943469C>T;29943479T>G;29943483A>C;29943484C>G;29943494G>C;29943495T>G;29945265C>T] | CA2573333002 | HLA-A | c.[113G>C;203G>A;271G>A;282G>C;299T>C;301G>A;341C>A;385T>C;489G>A;521C>T;527A>C;538T>C;539T>G;545C>T;555T>G;559A>C;560C>G;570G>C;571T>G;960C>T] (p.[Arg38Pro;Arg68Lys;Val91Met;Gln94His;Val100Ala;Asp101Asn;Ala114Asp;Ser129Pro;Ala163=;Ala174Val;Glu176Ala;Leu180=;Leu180Trp;Ala182Val;Asp185Glu;Thr187Pro;Thr187Arg;Glu190Asp;Trp191Gly;Ser320=]) n.[389G>C;479G>A;547G>A;558G>C;575T>C;577G>A;617C>A;661T>C;765G>A;797C>T;803A>C;814T>C;815T>G;821C>T;831T>G;835A>C;836C>G;846G>C;847T>G;2617C>T] c.[113G>C;203G>A;271G>A;282G>C;299T>C;301G>A;341C>A;385T>C;489G>A;521C>T;527A>C;538T>C;539T>G;545C>T;555T>G;559A>C;560C>G;570G>C;571T>G;*61C>T] ([p.Arg38Pro;p.Arg68Lys;p.Val91Met;p.Gln94His;p.Val100Ala;p.Asp101Asn;p.Ala114Asp;p.Ser129Pro;p.Ala163=;p.Ala174Val;p.Glu176Ala;p.Leu180=;p.Leu180Trp;p.Ala182Val;p.Asp185Glu;p.Thr187Pro;p.Thr187Arg;p.Glu190Asp;p.Trp191Gly;n.*61C>T]) c.[113G>C;203G>A;271G>A;282G>C;299T>C;301G>A;341C>A;385T>C;489G>A;521C>T;527A>C;538T>C;539T>G;545C>T;555T>G;559A>C;560C>G;570G>C;571T>G;1077C>T] (p.[Arg38Pro;Arg68Lys;Val91Met;Gln94His;Val100Ala;Asp101Asn;Ala114Asp;Ser129Pro;Ala163=;Ala174Val;Glu176Ala;Leu180=;Leu180Trp;Ala182Val;Asp185Glu;Thr187Pro;Thr187Arg;Glu190Asp;Trp191Gly;Ser359=]) n.[389G>C;479G>A;547G>A;558G>C;575T>C;577G>A;617C>A;661T>C;765G>A;797C>T;803A>C;814T>C;815T>G;821C>T;831T>G;835A>C;836C>G;846G>C;847T>G;1897C>T] n.[389G>C;479G>A;547G>A;558G>C;575T>C;577G>A;617C>A;661T>C;765G>A;797C>T;803A>C;814T>C;815T>G;821C>T;831T>G;835A>C;836C>G;846G>C;847T>G;2373C>T] n.[389G>C;479G>A;547G>A;558G>C;575T>C;577G>A;617C>A;661T>C;765G>A;797C>T;803A>C;814T>C;815T>G;821C>T;831T>G;835A>C;836C>G;846G>C;847T>G;1795C>T] c.[113G>C;203G>A;271G>A;282G>C;299T>C;301G>A;341C>A;385T>C;489G>A;521C>T;527A>C;538T>C;539T>G;545C>T;555T>G;559A>C;560C>G;570G>C;571T>G;1095C>T] (p.[Arg38Pro;Arg68Lys;Val91Met;Gln94His;Val100Ala;Asp101Asn;Ala114Asp;Ser129Pro;Ala163=;Ala174Val;Glu176Ala;Leu180=;Leu180Trp;Ala182Val;Asp185Glu;Thr187Pro;Thr187Arg;Glu190Asp;Trp191Gly;Ser365=]) n.[389G>C;479G>A;547G>A;558G>C;575T>C;577G>A;617C>A;661T>C;765G>A;797C>T;803A>C;814T>C;815T>G;821C>T;831T>G;835A>C;836C>G;846G>C;847T>G;1931C>T] c.[29G>C;119G>A;187G>A;198G>C;215T>C;217G>A;257C>A;301T>C;405G>A;437C>T;443A>C;454T>C;455T>G;461C>T;471T>G;475A>C;476C>G;486G>C;487T>G;993C>T] (p.[Arg10Pro;Arg40Lys;Val63Met;Gln66His;Val72Ala;Asp73Asn;Ala86Asp;Ser101Pro;Ala135=;Ala146Val;Glu148Ala;Leu152=;Leu152Trp;Ala154Val;Asp157Glu;Thr159Pro;Thr159Arg;Glu162Asp;Trp163Gly;Ser331=]) c.[113G>C;203G>A;271G>A;282G>C;299T>C;301G>A;341C>A;385T>C;489G>A;521C>T;527A>C;538T>C;539T>G;545C>T;555T>G;559A>C;560C>G;570G>C;571T>G;896-186C>T] (p.[Arg38Pro;Arg68Lys;Val91Met;Gln94His;Val100Ala;Asp101Asn;Ala114Asp;Ser129Pro;Ala163=;Ala174Val;Glu176Ala;Leu180=;Leu180Trp;Ala182Val;Asp185Glu;Thr187Pro;Thr187Arg;Glu190Asp;Trp191Gly]) n.[113G>C;203G>A;271G>A;282G>C;299T>C;301G>A;341C>A;626T>C;730G>A;762C>T;768A>C;779T>C;780T>G;786C>T;796T>G;800A>C;801C>G;811G>C;812T>G;1336C>T] n.[113G>C;203G>A;271G>A;282G>C;299T>C;301G>A;341C>A;626T>C;730G>A;762C>T;768A>C;779T>C;780T>G;786C>T;796T>G;800A>C;801C>G;811G>C;812T>G;1318C>T] n.[115G>C;205G>A;273G>A;284G>C;301T>C;303G>A;343C>A;628T>C;732G>A;764C>T;770A>C;781T>C;782T>G;788C>T;798T>G;802A>C;803C>G;813G>C;814T>G;1316C>T] n.[119G>C;177+32G>A;177+100G>A;177+111G>C;177+128T>C;177+130G>A;177+170C>A;202T>C;306G>A;338C>T;344A>C;355T>C;356T>G;362C>T;372T>G;376A>C;377C>G;387G>C;388T>G;1336C>T] | |
| 6 | g.29942796G= | CA1618523616 | HLA-A | c.113G= (p.Arg38=) n.389G= c.29G= (p.Arg10=) n.272C= n.113G= n.115G= n.119G= | |
| 6 | g.29942796G>T | CA136019072 | HLA-A | c.113G>T (p.Arg38Leu) n.389G>T c.29G>T (p.Arg10Leu) n.272C>A n.113G>T n.115G>T n.119G>T | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.[29942796G>T;29942863C>T;29942965G>C;29942982T>A;29942984G>A;29942985A>G;29942990G>C;29942994C>T;29942996C>G;29942997T>C;29943000G>T;29943002G>C;29943287A>G;29943309T>C;29943321T>C;29943337G>A;29943372C>T;29943426A>C;29943448A>G;29943451A>T;29943479T>G] | CA2573333003 | HLA-A | c.[113G>T;180C>T;282G>C;299T>A;301G>A;302A>G;307G>C;311C>T;313C>G;314T>C;317G>T;319G>C;363A>G;385T>C;397T>C;413G>A;448C>T;502A>C;524A>G;527A>T;555T>G] (p.[Arg38Leu;Phe60=;Gln94His;Val100Glu;Asp101Asn;Asp101Gly;Gly103Arg;Thr104Ile;Leu105Val;Leu105Pro;Arg106Leu;Gly107Arg;Ile121Met;Ser129Pro;Phe133Leu;Arg138Gln;Leu150=;Lys168Gln;His175Arg;Glu176Val;Asp185Glu]) n.[389G>T;456C>T;558G>C;575T>A;577G>A;578A>G;583G>C;587C>T;589C>G;590T>C;593G>T;595G>C;639A>G;661T>C;673T>C;689G>A;724C>T;778A>C;800A>G;803A>T;831T>G] c.[29G>T;96C>T;198G>C;215T>A;217G>A;218A>G;223G>C;227C>T;229C>G;230T>C;233G>T;235G>C;279A>G;301T>C;313T>C;329G>A;364C>T;418A>C;440A>G;443A>T;471T>G] (p.[Arg10Leu;Phe32=;Gln66His;Val72Glu;Asp73Asn;Asp73Gly;Gly75Arg;Thr76Ile;Leu77Val;Leu77Pro;Arg78Leu;Gly79Arg;Ile93Met;Ser101Pro;Phe105Leu;Arg110Gln;Leu122=;Lys140Gln;His147Arg;Glu148Val;Asp157Glu]) n.[113G>T;180C>T;282G>C;299T>A;301G>A;302A>G;307G>C;311C>T;313C>G;314T>C;317G>T;319G>C;604A>G;626T>C;638T>C;654G>A;689C>T;743A>C;765A>G;768A>T;796T>G] n.[115G>T;182C>T;284G>C;301T>A;303G>A;304A>G;309G>C;313C>T;315C>G;316T>C;319G>T;321G>C;606A>G;628T>C;640T>C;656G>A;691C>T;745A>C;767A>G;770A>T;798T>G] n.[119G>T;177+9C>T;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;180A>G;202T>C;214T>C;230G>A;265C>T;319A>C;341A>G;344A>T;372T>G] | |
| 6 | g.29942797del | CA2677793903 | HLA-A | c.114del (p.Gly40AlafsTer?) n.390del c.30del (p.Gly12AlafsTer?) n.272del n.114del n.116del n.120del | gnomAD v4 |
| 6 | g.29942797G>A | CA136019076 | HLA-A | c.114G>A (p.Arg38=) n.390G>A c.30G>A (p.Arg10=) n.271C>T n.114G>A n.116G>A n.120G>A | dbSNP gnomAD v4 |
| 6 | g.[29942797G>A;29942886G>A;29942954G>A;29942965G>C;29942982T>C;29942984G>A;29943024C>A;29943309T>C;29943413G>A;29943445C>T;29943451A>C;29943462T>C;29943463T>G;29943469C>T;29943479T>G;29943483A>C;29943484C>G;29943494G>C;29943495T>G;29945265C>T] | CA2573333004 | HLA-A | c.[114G>A;203G>A;271G>A;282G>C;299T>C;301G>A;341C>A;385T>C;489G>A;521C>T;527A>C;538T>C;539T>G;545C>T;555T>G;559A>C;560C>G;570G>C;571T>G;960C>T] (p.[Arg38=;Arg68Lys;Val91Met;Gln94His;Val100Ala;Asp101Asn;Ala114Asp;Ser129Pro;Ala163=;Ala174Val;Glu176Ala;Leu180=;Leu180Trp;Ala182Val;Asp185Glu;Thr187Pro;Thr187Arg;Glu190Asp;Trp191Gly;Ser320=]) n.[390G>A;479G>A;547G>A;558G>C;575T>C;577G>A;617C>A;661T>C;765G>A;797C>T;803A>C;814T>C;815T>G;821C>T;831T>G;835A>C;836C>G;846G>C;847T>G;2617C>T] c.[114G>A;203G>A;271G>A;282G>C;299T>C;301G>A;341C>A;385T>C;489G>A;521C>T;527A>C;538T>C;539T>G;545C>T;555T>G;559A>C;560C>G;570G>C;571T>G;*61C>T] ([p.Arg38=;p.Arg68Lys;p.Val91Met;p.Gln94His;p.Val100Ala;p.Asp101Asn;p.Ala114Asp;p.Ser129Pro;p.Ala163=;p.Ala174Val;p.Glu176Ala;p.Leu180=;p.Leu180Trp;p.Ala182Val;p.Asp185Glu;p.Thr187Pro;p.Thr187Arg;p.Glu190Asp;p.Trp191Gly;n.*61C>T]) c.[114G>A;203G>A;271G>A;282G>C;299T>C;301G>A;341C>A;385T>C;489G>A;521C>T;527A>C;538T>C;539T>G;545C>T;555T>G;559A>C;560C>G;570G>C;571T>G;1077C>T] (p.[Arg38=;Arg68Lys;Val91Met;Gln94His;Val100Ala;Asp101Asn;Ala114Asp;Ser129Pro;Ala163=;Ala174Val;Glu176Ala;Leu180=;Leu180Trp;Ala182Val;Asp185Glu;Thr187Pro;Thr187Arg;Glu190Asp;Trp191Gly;Ser359=]) n.[390G>A;479G>A;547G>A;558G>C;575T>C;577G>A;617C>A;661T>C;765G>A;797C>T;803A>C;814T>C;815T>G;821C>T;831T>G;835A>C;836C>G;846G>C;847T>G;1897C>T] n.[390G>A;479G>A;547G>A;558G>C;575T>C;577G>A;617C>A;661T>C;765G>A;797C>T;803A>C;814T>C;815T>G;821C>T;831T>G;835A>C;836C>G;846G>C;847T>G;2373C>T] n.[390G>A;479G>A;547G>A;558G>C;575T>C;577G>A;617C>A;661T>C;765G>A;797C>T;803A>C;814T>C;815T>G;821C>T;831T>G;835A>C;836C>G;846G>C;847T>G;1795C>T] c.[114G>A;203G>A;271G>A;282G>C;299T>C;301G>A;341C>A;385T>C;489G>A;521C>T;527A>C;538T>C;539T>G;545C>T;555T>G;559A>C;560C>G;570G>C;571T>G;1095C>T] (p.[Arg38=;Arg68Lys;Val91Met;Gln94His;Val100Ala;Asp101Asn;Ala114Asp;Ser129Pro;Ala163=;Ala174Val;Glu176Ala;Leu180=;Leu180Trp;Ala182Val;Asp185Glu;Thr187Pro;Thr187Arg;Glu190Asp;Trp191Gly;Ser365=]) n.[390G>A;479G>A;547G>A;558G>C;575T>C;577G>A;617C>A;661T>C;765G>A;797C>T;803A>C;814T>C;815T>G;821C>T;831T>G;835A>C;836C>G;846G>C;847T>G;1931C>T] c.[30G>A;119G>A;187G>A;198G>C;215T>C;217G>A;257C>A;301T>C;405G>A;437C>T;443A>C;454T>C;455T>G;461C>T;471T>G;475A>C;476C>G;486G>C;487T>G;993C>T] (p.[Arg10=;Arg40Lys;Val63Met;Gln66His;Val72Ala;Asp73Asn;Ala86Asp;Ser101Pro;Ala135=;Ala146Val;Glu148Ala;Leu152=;Leu152Trp;Ala154Val;Asp157Glu;Thr159Pro;Thr159Arg;Glu162Asp;Trp163Gly;Ser331=]) c.[114G>A;203G>A;271G>A;282G>C;299T>C;301G>A;341C>A;385T>C;489G>A;521C>T;527A>C;538T>C;539T>G;545C>T;555T>G;559A>C;560C>G;570G>C;571T>G;896-186C>T] (p.[Arg38=;Arg68Lys;Val91Met;Gln94His;Val100Ala;Asp101Asn;Ala114Asp;Ser129Pro;Ala163=;Ala174Val;Glu176Ala;Leu180=;Leu180Trp;Ala182Val;Asp185Glu;Thr187Pro;Thr187Arg;Glu190Asp;Trp191Gly]) n.[114G>A;203G>A;271G>A;282G>C;299T>C;301G>A;341C>A;626T>C;730G>A;762C>T;768A>C;779T>C;780T>G;786C>T;796T>G;800A>C;801C>G;811G>C;812T>G;1336C>T] n.[114G>A;203G>A;271G>A;282G>C;299T>C;301G>A;341C>A;626T>C;730G>A;762C>T;768A>C;779T>C;780T>G;786C>T;796T>G;800A>C;801C>G;811G>C;812T>G;1318C>T] n.[116G>A;205G>A;273G>A;284G>C;301T>C;303G>A;343C>A;628T>C;732G>A;764C>T;770A>C;781T>C;782T>G;788C>T;798T>G;802A>C;803C>G;813G>C;814T>G;1316C>T] n.[120G>A;177+32G>A;177+100G>A;177+111G>C;177+128T>C;177+130G>A;177+170C>A;202T>C;306G>A;338C>T;344A>C;355T>C;356T>G;362C>T;372T>G;376A>C;377C>G;387G>C;388T>G;1336C>T] |