| 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.29942846A= | CA1618523790 | HLA-A | c.163A= (p.Thr55=) n.439A= c.79A= (p.Thr27=) n.222T= n.163A= n.165A= n.169A= | |
| 6 | g.29942846A>C | CA136019354 | HLA-A | c.163A>C (p.Thr55Pro) n.439A>C c.79A>C (p.Thr27Pro) n.222T>G n.163A>C n.165A>C n.169A>C | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.29942846A>G | CA136019360 | HLA-A | c.163A>G (p.Thr55Ala) n.439A>G c.79A>G (p.Thr27Ala) n.222T>C n.163A>G n.165A>G n.169A>G | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.29942846A>T | CA3693059 | HLA-A | c.163A>T (p.Thr55Ser) n.439A>T c.79A>T (p.Thr27Ser) n.222T>A n.163A>T n.165A>T n.169A>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.29942847C>A | CA136019388 | HLA-A | c.164C>A (p.Thr55Lys) n.440C>A c.80C>A (p.Thr27Lys) n.221G>T n.164C>A n.166C>A n.170C>A | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.[29942847C>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] | CA2573333078 | HLA-A | c.[164C>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.[Thr55Lys;Arg68Lys;Val91Met;Gln94His;Val100Ala;Asp101Asn;Ala114Asp;Ser129Pro;Ala163=;Ala174Val;Glu176Ala;Leu180=;Leu180Trp;Ala182Val;Asp185Glu;Thr187Pro;Thr187Arg;Glu190Asp;Trp191Gly]) n.[440C>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.[80C>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.[Thr27Lys;Arg40Lys;Val63Met;Gln66His;Val72Ala;Asp73Asn;Ala86Asp;Ser101Pro;Ala135=;Ala146Val;Glu148Ala;Leu152=;Leu152Trp;Ala154Val;Asp157Glu;Thr159Pro;Thr159Arg;Glu162Asp;Trp163Gly]) n.[164C>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.[166C>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.[170C>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.29942847C= | CA1618523792 | HLA-A | c.164C= (p.Thr55=) n.440C= c.80C= (p.Thr27=) n.221G= n.164C= n.166C= n.170C= | |
| 6 | g.29942847C>G | CA363289705 | HLA-A | c.164C>G (p.Thr55Arg) n.440C>G c.80C>G (p.Thr27Arg) n.221G>C n.164C>G n.166C>G n.170C>G | |
| 6 | g.29942847C>T | CA136019365 | HLA-A | c.164C>T (p.Thr55Met) n.440C>T c.80C>T (p.Thr27Met) n.221G>A n.164C>T n.166C>T n.170C>T | dbSNP gnomAD v4 |
| 6 | g.29942848G>A | CA136019395 | HLA-A | c.165G>A (p.Thr55=) n.441G>A c.81G>A (p.Thr27=) n.220C>T n.165G>A n.167G>A n.171G>A | dbSNP gnomAD v4 |
| 6 | g.[29942848G>A;29942863C>T;29942965G>C;29943287A>G;29943309T>C;29943321T>C;29943337G>A;29943372C>T;29943426A>C;29943448A>G;29943451A>T;29943479T>G;29943489G>A] | CA2573333079 | HLA-A | c.[165G>A;180C>T;282G>C;363A>G;385T>C;397T>C;413G>A;448C>T;502A>C;524A>G;527A>T;555T>G;565G>A] (p.[Thr55=;Phe60=;Gln94His;Ile121Met;Ser129Pro;Phe133Leu;Arg138Gln;Leu150=;Lys168Gln;His175Arg;Glu176Val;Asp185Glu;Val189Met]) n.[441G>A;456C>T;558G>C;639A>G;661T>C;673T>C;689G>A;724C>T;778A>C;800A>G;803A>T;831T>G;841G>A] c.[81G>A;96C>T;198G>C;279A>G;301T>C;313T>C;329G>A;364C>T;418A>C;440A>G;443A>T;471T>G;481G>A] (p.[Thr27=;Phe32=;Gln66His;Ile93Met;Ser101Pro;Phe105Leu;Arg110Gln;Leu122=;Lys140Gln;His147Arg;Glu148Val;Asp157Glu;Val161Met]) n.[165G>A;180C>T;282G>C;604A>G;626T>C;638T>C;654G>A;689C>T;743A>C;765A>G;768A>T;796T>G;806G>A] n.[167G>A;182C>T;284G>C;606A>G;628T>C;640T>C;656G>A;691C>T;745A>C;767A>G;770A>T;798T>G;808G>A] n.[171G>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;382G>A] | |
| 6 | g.[29942848G>A;29943451A>T;29943462T>C;29943463T>A] | CA2573333080 | HLA-A | c.[165G>A;527A>T;538T>C;539T>A] (p.[Thr55=;Glu176Val;Leu180=;Leu180Ter]) n.[441G>A;803A>T;814T>C;815T>A] c.[81G>A;443A>T;454T>C;455T>A] (p.[Thr27=;Glu148Val;Leu152=;Leu152Ter]) n.[165G>A;768A>T;779T>C;780T>A] n.[167G>A;770A>T;781T>C;782T>A] n.[171G>A;344A>T;355T>C;356T>A] | |
| 6 | g.29942848G>C | CA136019396 | HLA-A | c.165G>C (p.Thr55=) n.441G>C c.81G>C (p.Thr27=) n.220C>G n.165G>C n.167G>C n.171G>C | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.29942848G= | CA1618523796 | HLA-A | c.165G= (p.Thr55=) n.441G= c.81G= (p.Thr27=) n.220C= n.165G= n.167G= n.171G= | |
| 6 | g.29942848G>T | CA449461116 | HLA-A | c.165G>T (p.Thr55=) n.441G>T c.81G>T (p.Thr27=) n.220C>A n.165G>T n.167G>T n.171G>T | gnomAD v3 gnomAD v4 |
| 6 | g.29942849C>A | CA363289709 | HLA-A | c.166C>A (p.Gln56Lys) n.442C>A c.82C>A (p.Gln28Lys) n.219G>T n.166C>A n.168C>A n.172C>A | gnomAD v4 |
| 6 | g.29942849C>G | CA363289710 | HLA-A | c.166C>G (p.Gln56Glu) n.442C>G c.82C>G (p.Gln28Glu) n.219G>C n.166C>G n.168C>G n.172C>G | |
| 6 | g.29942849C>T | CA363289711 | HLA-A | c.166C>T (p.Gln56Ter) n.442C>T c.82C>T (p.Gln28Ter) n.219G>A n.166C>T n.168C>T n.172C>T | gnomAD v3 gnomAD v4 |
| 6 | g.[29942849C>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] | CA2573333081 | HLA-A | c.[166C>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.Gln56Ter) n.[442C>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.[82C>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.Gln28Ter) n.[166C>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.[168C>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.[172C>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.29942850A= | CA1618523800 | HLA-A | c.167A= (p.Gln56=) n.443A= c.83A= (p.Gln28=) n.218T= n.167A= n.169A= n.173A= | |
| 6 | g.29942850A>C | CA363289712 | HLA-A | c.167A>C (p.Gln56Pro) n.443A>C c.83A>C (p.Gln28Pro) n.218T>G n.167A>C n.169A>C n.173A>C | gnomAD v3 gnomAD v4 |
| 6 | g.[29942850A>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] | CA2573333082 | HLA-A | c.[167A>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.[Gln56Pro;Arg68Lys;Val91Met;Gln94His;Val100Ala;Asp101Asn;Ala114Asp;Ser129Pro;Ala163=;Ala174Val;Glu176Ala;Leu180=;Leu180Trp;Ala182Val;Asp185Glu;Thr187Pro;Thr187Arg;Glu190Asp;Trp191Gly;Ser320=]) n.[443A>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.[167A>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.Gln56Pro;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.[167A>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.[Gln56Pro;Arg68Lys;Val91Met;Gln94His;Val100Ala;Asp101Asn;Ala114Asp;Ser129Pro;Ala163=;Ala174Val;Glu176Ala;Leu180=;Leu180Trp;Ala182Val;Asp185Glu;Thr187Pro;Thr187Arg;Glu190Asp;Trp191Gly;Ser359=]) n.[443A>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.[443A>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.[443A>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.[167A>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.[Gln56Pro;Arg68Lys;Val91Met;Gln94His;Val100Ala;Asp101Asn;Ala114Asp;Ser129Pro;Ala163=;Ala174Val;Glu176Ala;Leu180=;Leu180Trp;Ala182Val;Asp185Glu;Thr187Pro;Thr187Arg;Glu190Asp;Trp191Gly;Ser365=]) n.[443A>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.[83A>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.[Gln28Pro;Arg40Lys;Val63Met;Gln66His;Val72Ala;Asp73Asn;Ala86Asp;Ser101Pro;Ala135=;Ala146Val;Glu148Ala;Leu152=;Leu152Trp;Ala154Val;Asp157Glu;Thr159Pro;Thr159Arg;Glu162Asp;Trp163Gly;Ser331=]) c.[167A>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.[Gln56Pro;Arg68Lys;Val91Met;Gln94His;Val100Ala;Asp101Asn;Ala114Asp;Ser129Pro;Ala163=;Ala174Val;Glu176Ala;Leu180=;Leu180Trp;Ala182Val;Asp185Glu;Thr187Pro;Thr187Arg;Glu190Asp;Trp191Gly]) n.[167A>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.[167A>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.[169A>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.[173A>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.29942850A>G | CA363289713 | HLA-A | c.167A>G (p.Gln56Arg) n.443A>G c.83A>G (p.Gln28Arg) n.218T>C n.167A>G n.169A>G n.173A>G | gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 6 | g.29942850A>T | CA3693060 | HLA-A | c.167A>T (p.Gln56Leu) n.443A>T c.83A>T (p.Gln28Leu) n.218T>A n.167A>T n.169A>T n.173A>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.29942851G>A | CA136019402 | HLA-A | c.168G>A (p.Gln56=) n.444G>A c.84G>A (p.Gln28=) n.217C>T n.168G>A n.170G>A n.174G>A | dbSNP gnomAD v4 |
| 6 | g.29942851G>C | CA136019404 | HLA-A | c.168G>C (p.Gln56His) n.444G>C c.84G>C (p.Gln28His) n.217C>G n.168G>C n.170G>C n.174G>C | dbSNP gnomAD v4 |
| 6 | g.[29942851G>C;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] | CA2573333083 | HLA-A | c.[168G>C;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.[Gln56His;Phe60=;Gln94His;Val100Glu;Asp101Asn;Asp101Gly;Gly103Arg;Thr104Ile;Leu105Val;Leu105Pro;Arg106Leu;Gly107Arg;Ile121Met;Ser129Pro;Phe133Leu;Arg138Gln;Leu150=;Lys168Gln;His175Arg;Glu176Val;Asp185Glu]) n.[444G>C;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.[84G>C;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.[Gln28His;Phe32=;Gln66His;Val72Glu;Asp73Asn;Asp73Gly;Gly75Arg;Thr76Ile;Leu77Val;Leu77Pro;Arg78Leu;Gly79Arg;Ile93Met;Ser101Pro;Phe105Leu;Arg110Gln;Leu122=;Lys140Gln;His147Arg;Glu148Val;Asp157Glu]) n.[168G>C;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.[170G>C;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.[174G>C;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.29942851G= | CA1618523804 | HLA-A | c.168G= (p.Gln56=) n.444G= c.84G= (p.Gln28=) n.217C= n.168G= n.170G= n.174G= | |
| 6 | g.29942851G>T | CA136019408 | HLA-A | c.168G>T (p.Gln56His) n.444G>T c.84G>T (p.Gln28His) n.217C>A n.168G>T n.170G>T n.174G>T | dbSNP gnomAD v4 |
| 6 | g.[29942851G>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] | CA2573333084 | HLA-A | c.[168G>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.[Gln56His;Arg68Lys;Val91Met;Gln94His;Val100Ala;Asp101Asn;Ala114Asp;Ser129Pro;Ala163=;Ala174Val;Glu176Ala;Leu180=;Leu180Trp;Ala182Val;Asp185Glu;Thr187Pro;Thr187Arg;Glu190Asp;Trp191Gly]) n.[444G>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.[84G>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.[Gln28His;Arg40Lys;Val63Met;Gln66His;Val72Ala;Asp73Asn;Ala86Asp;Ser101Pro;Ala135=;Ala146Val;Glu148Ala;Leu152=;Leu152Trp;Ala154Val;Asp157Glu;Thr159Pro;Thr159Arg;Glu162Asp;Trp163Gly]) n.[168G>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.[170G>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.[174G>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.29942852T>A | CA363289717 | HLA-A | c.169T>A (p.Phe57Ile) n.445T>A c.85T>A (p.Phe29Ile) n.216A>T n.169T>A n.171T>A n.175T>A | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.29942852T>C | CA363289718 | HLA-A | c.169T>C (p.Phe57Leu) n.445T>C c.85T>C (p.Phe29Leu) n.216A>G n.169T>C n.171T>C n.175T>C | gnomAD v3 gnomAD v4 |
| 6 | g.29942852T>G | CA363289719 | HLA-A | c.169T>G (p.Phe57Val) n.445T>G c.85T>G (p.Phe29Val) n.216A>C n.169T>G n.171T>G n.175T>G | gnomAD v3 gnomAD v4 |
| 6 | g.29942853T>A | CA363289720 | HLA-A | c.170T>A (p.Phe57Tyr) n.446T>A c.86T>A (p.Phe29Tyr) n.215A>T n.170T>A n.172T>A n.176T>A | dbSNP gnomAD v4 |
| 6 | g.29942853T>C | CA136019411 | HLA-A | c.170T>C (p.Phe57Ser) n.446T>C c.86T>C (p.Phe29Ser) n.215A>G n.170T>C n.172T>C n.176T>C | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.29942853T>G | CA363289721 | HLA-A | c.170T>G (p.Phe57Cys) n.446T>G c.86T>G (p.Phe29Cys) n.215A>C n.170T>G n.172T>G n.176T>G | gnomAD v3 gnomAD v4 |
| 6 | g.29942853T= | CA1618523809 | HLA-A | c.170T= (p.Phe57=) n.446T= c.86T= (p.Phe29=) n.215A= n.170T= n.172T= n.176T= | |
| 6 | g.29942854C>A | CA136019414 | HLA-A | c.171C>A (p.Phe57Leu) n.447C>A c.87C>A (p.Phe29Leu) n.214G>T n.171C>A n.173C>A n.177C>A | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.[29942854C>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] | CA2573333092 | HLA-A | c.[171C>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.[Phe57Leu;Arg68Lys;Val91Met;Gln94His;Val100Ala;Asp101Asn;Ala114Asp;Ser129Pro;Ala163=;Ala174Val;Glu176Ala;Leu180=;Leu180Trp;Ala182Val;Asp185Glu;Thr187Pro;Thr187Arg;Glu190Asp;Trp191Gly;Ser320=]) n.[447C>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.[171C>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.Phe57Leu;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.[171C>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.[Phe57Leu;Arg68Lys;Val91Met;Gln94His;Val100Ala;Asp101Asn;Ala114Asp;Ser129Pro;Ala163=;Ala174Val;Glu176Ala;Leu180=;Leu180Trp;Ala182Val;Asp185Glu;Thr187Pro;Thr187Arg;Glu190Asp;Trp191Gly;Ser359=]) n.[447C>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.[447C>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.[447C>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.[171C>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.[Phe57Leu;Arg68Lys;Val91Met;Gln94His;Val100Ala;Asp101Asn;Ala114Asp;Ser129Pro;Ala163=;Ala174Val;Glu176Ala;Leu180=;Leu180Trp;Ala182Val;Asp185Glu;Thr187Pro;Thr187Arg;Glu190Asp;Trp191Gly;Ser365=]) n.[447C>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.[87C>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.[Phe29Leu;Arg40Lys;Val63Met;Gln66His;Val72Ala;Asp73Asn;Ala86Asp;Ser101Pro;Ala135=;Ala146Val;Glu148Ala;Leu152=;Leu152Trp;Ala154Val;Asp157Glu;Thr159Pro;Thr159Arg;Glu162Asp;Trp163Gly;Ser331=]) c.[171C>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.[Phe57Leu;Arg68Lys;Val91Met;Gln94His;Val100Ala;Asp101Asn;Ala114Asp;Ser129Pro;Ala163=;Ala174Val;Glu176Ala;Leu180=;Leu180Trp;Ala182Val;Asp185Glu;Thr187Pro;Thr187Arg;Glu190Asp;Trp191Gly]) n.[171C>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.[171C>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.[173C>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.[177C>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] | |
| 6 | g.29942854C= | CA1618523810 | HLA-A | c.171C= (p.Phe57=) n.447C= c.87C= (p.Phe29=) n.214G= n.171C= n.173C= n.177C= | |
| 6 | g.29942854C>G | CA363289722 | HLA-A | c.171C>G (p.Phe57Leu) n.447C>G c.87C>G (p.Phe29Leu) n.214G>C n.171C>G n.173C>G n.177C>G | COSMIC |
| 6 | g.[29942854C>G;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] | CA2573333093 | HLA-A | c.[171C>G;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.[Phe57Leu;Arg68Lys;Val91Met;Gln94His;Val100Ala;Asp101Asn;Ala114Asp;Ser129Pro;Ala163=;Ala174Val;Glu176Ala;Leu180=;Leu180Trp;Ala182Val;Asp185Glu;Thr187Pro;Thr187Arg;Glu190Asp;Trp191Gly]) n.[447C>G;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.[87C>G;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.[Phe29Leu;Arg40Lys;Val63Met;Gln66His;Val72Ala;Asp73Asn;Ala86Asp;Ser101Pro;Ala135=;Ala146Val;Glu148Ala;Leu152=;Leu152Trp;Ala154Val;Asp157Glu;Thr159Pro;Thr159Arg;Glu162Asp;Trp163Gly]) n.[171C>G;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.[173C>G;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.[177C>G;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.29942854C>T | CA136019416 | HLA-A | c.171C>T (p.Phe57=) n.447C>T c.87C>T (p.Phe29=) n.214G>A n.171C>T n.173C>T n.177C>T | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 6 | g.[29942854C>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;29945265C>T] | CA2573333094 | HLA-A | c.[171C>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;960C>T] (p.[Phe57=;Arg68Lys;Val91Met;Gln94His;Val100Ala;Asp101Asn;Ala114Asp;Ser129Pro;Ala163=;Ala174Val;Glu176Ala;Leu180=;Leu180Trp;Ala182Val;Asp185Glu;Thr187Pro;Thr187Arg;Glu190Asp;Trp191Gly;Ser320=]) n.[447C>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;2617C>T] c.[171C>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;*61C>T] ([p.Phe57=;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.[171C>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;1077C>T] (p.[Phe57=;Arg68Lys;Val91Met;Gln94His;Val100Ala;Asp101Asn;Ala114Asp;Ser129Pro;Ala163=;Ala174Val;Glu176Ala;Leu180=;Leu180Trp;Ala182Val;Asp185Glu;Thr187Pro;Thr187Arg;Glu190Asp;Trp191Gly;Ser359=]) n.[447C>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;1897C>T] n.[447C>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;2373C>T] n.[447C>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;1795C>T] c.[171C>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;1095C>T] (p.[Phe57=;Arg68Lys;Val91Met;Gln94His;Val100Ala;Asp101Asn;Ala114Asp;Ser129Pro;Ala163=;Ala174Val;Glu176Ala;Leu180=;Leu180Trp;Ala182Val;Asp185Glu;Thr187Pro;Thr187Arg;Glu190Asp;Trp191Gly;Ser365=]) n.[447C>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;1931C>T] c.[87C>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;993C>T] (p.[Phe29=;Arg40Lys;Val63Met;Gln66His;Val72Ala;Asp73Asn;Ala86Asp;Ser101Pro;Ala135=;Ala146Val;Glu148Ala;Leu152=;Leu152Trp;Ala154Val;Asp157Glu;Thr159Pro;Thr159Arg;Glu162Asp;Trp163Gly;Ser331=]) c.[171C>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;896-186C>T] (p.[Phe57=;Arg68Lys;Val91Met;Gln94His;Val100Ala;Asp101Asn;Ala114Asp;Ser129Pro;Ala163=;Ala174Val;Glu176Ala;Leu180=;Leu180Trp;Ala182Val;Asp185Glu;Thr187Pro;Thr187Arg;Glu190Asp;Trp191Gly]) n.[171C>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;1336C>T] n.[171C>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;1318C>T] n.[173C>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;1316C>T] n.[177C>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;1336C>T] | |
| 6 | g.29942855G>A | CA136019420 | HLA-A | c.172G>A (p.Val58Met) n.448G>A c.88G>A (p.Val30Met) n.213C>T n.172G>A n.174G>A n.177+1G>A | dbSNP gnomAD v4 |
| 6 | g.29942855G>C | CA136019423 | HLA-A | c.172G>C (p.Val58Leu) n.448G>C c.88G>C (p.Val30Leu) n.213C>G n.172G>C n.174G>C n.177+1G>C | dbSNP |
| 6 | g.29942855G= | CA1618523813 | HLA-A | c.172G= (p.Val58=) n.448G= c.88G= (p.Val30=) n.213C= n.172G= n.174G= n.177+1G= | |
| 6 | g.29942855G>T | CA136019425 | HLA-A | c.172G>T (p.Val58Leu) n.448G>T c.88G>T (p.Val30Leu) n.213C>A n.172G>T n.174G>T n.177+1G>T | dbSNP gnomAD v4 |
| 6 | g.[29942855G>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] | CA2573333095 | HLA-A | c.[172G>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.[Val58Leu;Arg68Lys;Val91Met;Gln94His;Val100Ala;Asp101Asn;Ala114Asp;Ser129Pro;Ala163=;Ala174Val;Glu176Ala;Leu180=;Leu180Trp;Ala182Val;Asp185Glu;Thr187Pro;Thr187Arg;Glu190Asp;Trp191Gly]) n.[448G>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.[88G>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.[Val30Leu;Arg40Lys;Val63Met;Gln66His;Val72Ala;Asp73Asn;Ala86Asp;Ser101Pro;Ala135=;Ala146Val;Glu148Ala;Leu152=;Leu152Trp;Ala154Val;Asp157Glu;Thr159Pro;Thr159Arg;Glu162Asp;Trp163Gly]) n.[172G>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.[174G>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.[177+1G>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] |