| 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.29942873G>A | CA136019528 | HLA-A | c.190G>A (p.Ala64Thr) n.466G>A c.106G>A (p.Ala36Thr) n.195C>T n.190G>A n.192G>A n.177+19G>A | dbSNP gnomAD v4 |
| 6 | g.[29942873G>A;29942874_29942875del;29942886G>A;29942954G>A;29942965G>C;29942982T>C;29942984G>A;29943024C>A;29943287A>G;29943309T>C;29943413G>A;29943445C>T;29943451A>C;29943462T>C;29943463T>G;29943469C>T;29943479T>G;29943483A>C;29943484C>G;29943494G>C;29943495T>G;29944591C>T;29945265C>T] | CA2573333205 | HLA-A | c.[190G>A;191_192del;203G>A;271G>A;282G>C;299T>C;301G>A;341C>A;363A>G;385T>C;489G>A;521C>T;527A>C;538T>C;539T>G;545C>T;555T>G;559A>C;560C>G;570G>C;571T>G;895+194C>T;960C>T] (p.[Ala64Thr;Ala64GlyfsTer34]) n.[466G>A;467_468del;479G>A;547G>A;558G>C;575T>C;577G>A;617C>A;639A>G;661T>C;765G>A;797C>T;803A>C;814T>C;815T>G;821C>T;831T>G;835A>C;836C>G;846G>C;847T>G;1943C>T;2617C>T] c.[190G>A;191_192del;203G>A;271G>A;282G>C;299T>C;301G>A;341C>A;363A>G;385T>C;489G>A;521C>T;527A>C;538T>C;539T>G;545C>T;555T>G;559A>C;560C>G;570G>C;571T>G;1021C>T;*61C>T] ([p.Ala64Thr;p.*61C>T;p.Ala64GlyfsTer34]) c.[190G>A;191_192del;203G>A;271G>A;282G>C;299T>C;301G>A;341C>A;363A>G;385T>C;489G>A;521C>T;527A>C;538T>C;539T>G;545C>T;555T>G;559A>C;560C>G;570G>C;571T>G;987C>T;1077C>T] (p.[Ala64Thr;Ala64GlyfsTer34]) n.[466G>A;467_468del;479G>A;547G>A;558G>C;575T>C;577G>A;617C>A;639A>G;661T>C;765G>A;797C>T;803A>C;814T>C;815T>G;821C>T;831T>G;835A>C;836C>G;846G>C;847T>G;1365C>T;1897C>T] n.[466G>A;467_468del;479G>A;547G>A;558G>C;575T>C;577G>A;617C>A;639A>G;661T>C;765G>A;797C>T;803A>C;814T>C;815T>G;821C>T;831T>G;835A>C;836C>G;846G>C;847T>G;1841C>T;2373C>T] n.[466G>A;467_468del;479G>A;547G>A;558G>C;575T>C;577G>A;617C>A;639A>G;661T>C;765G>A;797C>T;803A>C;814T>C;815T>G;821C>T;831T>G;835A>C;836C>G;846G>C;847T>G;1263C>T;1795C>T] c.[190G>A;191_192del;203G>A;271G>A;282G>C;299T>C;301G>A;341C>A;363A>G;385T>C;489G>A;521C>T;527A>C;538T>C;539T>G;545C>T;555T>G;559A>C;560C>G;570G>C;571T>G;987C>T;1095C>T] (p.[Ala64Thr;Ala64GlyfsTer34]) n.[466G>A;467_468del;479G>A;547G>A;558G>C;575T>C;577G>A;617C>A;639A>G;661T>C;765G>A;797C>T;803A>C;814T>C;815T>G;821C>T;831T>G;835A>C;836C>G;846G>C;847T>G;1841C>T;1931C>T] c.[106G>A;107_108del;119G>A;187G>A;198G>C;215T>C;217G>A;257C>A;279A>G;301T>C;405G>A;437C>T;443A>C;454T>C;455T>G;461C>T;471T>G;475A>C;476C>G;486G>C;487T>G;903C>T;993C>T] (p.[Ala36Thr;Ala36GlyfsTer34]) c.[190G>A;191_192del;203G>A;271G>A;282G>C;299T>C;301G>A;341C>A;363A>G;385T>C;489G>A;521C>T;527A>C;538T>C;539T>G;545C>T;555T>G;559A>C;560C>G;570G>C;571T>G;895+194C>T;896-186C>T] (p.[Ala64Thr;Ala64GlyfsTer34]) n.[190G>A;191_192del;203G>A;271G>A;282G>C;299T>C;301G>A;341C>A;604A>G;626T>C;730G>A;762C>T;768A>C;779T>C;780T>G;786C>T;796T>G;800A>C;801C>G;811G>C;812T>G;1228C>T;1336C>T] n.[190G>A;191_192del;203G>A;271G>A;282G>C;299T>C;301G>A;341C>A;604A>G;626T>C;730G>A;762C>T;768A>C;779T>C;780T>G;786C>T;796T>G;800A>C;801C>G;811G>C;812T>G;1228C>T;1318C>T] n.[192G>A;193_194del;205G>A;273G>A;284G>C;301T>C;303G>A;343C>A;606A>G;628T>C;732G>A;764C>T;770A>C;781T>C;782T>G;788C>T;798T>G;802A>C;803C>G;813G>C;814T>G;1230C>T;1316C>T] n.[177+19G>A;177+20_177+21del;177+32G>A;177+100G>A;177+111G>C;177+128T>C;177+130G>A;177+170C>A;180A>G;202T>C;306G>A;338C>T;344A>C;355T>C;356T>G;362C>T;372T>G;376A>C;377C>G;387G>C;388T>G;804C>T;1336C>T] | |
| 6 | g.29942873G>C | CA363289767 | HLA-A | c.190G>C (p.Ala64Pro) n.466G>C c.106G>C (p.Ala36Pro) n.195C>G n.190G>C n.192G>C n.177+19G>C | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.29942873G= | CA1618523868 | HLA-A | c.190G= (p.Ala64=) n.466G= c.106G= (p.Ala36=) n.195C= n.190G= n.192G= n.177+19G= | |
| 6 | g.29942873G>T | CA363289769 | HLA-A | c.190G>T (p.Ala64Ser) n.466G>T c.106G>T (p.Ala36Ser) n.195C>A n.190G>T n.192G>T n.177+19G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.29942879_29942898dup | CA2695206087 | HLA-A | c.196_215dup (p.Pro74ArgfsTer10) n.472_491dup c.112_131dup (p.Pro46ArgfsTer10) n.176_195dup n.196_215dup n.198_217dup n.177+25_177+44dup | |
| 6 | g.29942874C>A | CA136019530 | HLA-A | c.191C>A (p.Ala64Asp) n.467C>A c.107C>A (p.Ala36Asp) n.194G>T n.191C>A n.193C>A n.177+20C>A | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.[29942874C>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] | CA2573333206 | HLA-A | c.[191C>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.[Ala64Asp;Arg68Lys;Val91Met;Gln94His;Val100Ala;Asp101Asn;Ala114Asp;Ser129Pro;Ala163=;Ala174Val;Glu176Ala;Leu180=;Leu180Trp;Ala182Val;Asp185Glu;Thr187Pro;Thr187Arg;Glu190Asp;Trp191Gly]) n.[467C>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.[107C>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.[Ala36Asp;Arg40Lys;Val63Met;Gln66His;Val72Ala;Asp73Asn;Ala86Asp;Ser101Pro;Ala135=;Ala146Val;Glu148Ala;Leu152=;Leu152Trp;Ala154Val;Asp157Glu;Thr159Pro;Thr159Arg;Glu162Asp;Trp163Gly]) n.[191C>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.[193C>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.[177+20C>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.29942874C= | CA1618523871 | HLA-A | c.191C= (p.Ala64=) n.467C= c.107C= (p.Ala36=) n.194G= n.191C= n.193C= n.177+20C= | |
| 6 | g.29942874C>G | CA363289771 | HLA-A | c.191C>G (p.Ala64Gly) n.467C>G c.107C>G (p.Ala36Gly) n.194G>C n.191C>G n.193C>G n.177+20C>G | |
| 6 | g.29942874C>T | CA136019544 | HLA-A | c.191C>T (p.Ala64Val) n.467C>T c.107C>T (p.Ala36Val) n.194G>A n.191C>T n.193C>T n.177+20C>T | dbSNP gnomAD v4 |
| 6 | g.[29942874C>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] | CA2573333207 | HLA-A | c.[191C>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.[Ala64Val;Arg68Lys;Val91Met;Gln94His;Val100Ala;Asp101Asn;Ala114Asp;Ser129Pro;Ala163=;Ala174Val;Glu176Ala;Leu180=;Leu180Trp;Ala182Val;Asp185Glu;Thr187Pro;Thr187Arg;Glu190Asp;Trp191Gly]) n.[467C>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.[107C>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.[Ala36Val;Arg40Lys;Val63Met;Gln66His;Val72Ala;Asp73Asn;Ala86Asp;Ser101Pro;Ala135=;Ala146Val;Glu148Ala;Leu152=;Leu152Trp;Ala154Val;Asp157Glu;Thr159Pro;Thr159Arg;Glu162Asp;Trp163Gly]) n.[191C>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.[193C>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+20C>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.29942875C>A | CA449461313 | HLA-A | c.192C>A (p.Ala64=) n.468C>A c.108C>A (p.Ala36=) n.193G>T n.192C>A n.194C>A n.177+21C>A | gnomAD v4 |
| 6 | g.29942875C= | CA1618523874 | HLA-A | c.192C= (p.Ala64=) n.468C= c.108C= (p.Ala36=) n.193G= n.192C= n.194C= n.177+21C= | |
| 6 | g.29942875C>G | CA136019546 | HLA-A | c.192C>G (p.Ala64=) n.468C>G c.108C>G (p.Ala36=) n.193G>C n.192C>G n.194C>G n.177+21C>G | dbSNP gnomAD v4 |
| 6 | g.[29942875C>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;29945265C>T] | CA2573333208 | HLA-A | c.[192C>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;960C>T] (p.[Ala64=;Arg68Lys;Val91Met;Gln94His;Val100Ala;Asp101Asn;Ala114Asp;Ser129Pro;Ala163=;Ala174Val;Glu176Ala;Leu180=;Leu180Trp;Ala182Val;Asp185Glu;Thr187Pro;Thr187Arg;Glu190Asp;Trp191Gly;Ser320=]) n.[468C>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;2617C>T] c.[192C>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;*61C>T] ([p.Ala64=;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.[192C>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;1077C>T] (p.[Ala64=;Arg68Lys;Val91Met;Gln94His;Val100Ala;Asp101Asn;Ala114Asp;Ser129Pro;Ala163=;Ala174Val;Glu176Ala;Leu180=;Leu180Trp;Ala182Val;Asp185Glu;Thr187Pro;Thr187Arg;Glu190Asp;Trp191Gly;Ser359=]) n.[468C>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;1897C>T] n.[468C>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;2373C>T] n.[468C>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;1795C>T] c.[192C>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;1095C>T] (p.[Ala64=;Arg68Lys;Val91Met;Gln94His;Val100Ala;Asp101Asn;Ala114Asp;Ser129Pro;Ala163=;Ala174Val;Glu176Ala;Leu180=;Leu180Trp;Ala182Val;Asp185Glu;Thr187Pro;Thr187Arg;Glu190Asp;Trp191Gly;Ser365=]) n.[468C>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;1931C>T] c.[108C>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;993C>T] (p.[Ala36=;Arg40Lys;Val63Met;Gln66His;Val72Ala;Asp73Asn;Ala86Asp;Ser101Pro;Ala135=;Ala146Val;Glu148Ala;Leu152=;Leu152Trp;Ala154Val;Asp157Glu;Thr159Pro;Thr159Arg;Glu162Asp;Trp163Gly;Ser331=]) c.[192C>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;896-186C>T] (p.[Ala64=;Arg68Lys;Val91Met;Gln94His;Val100Ala;Asp101Asn;Ala114Asp;Ser129Pro;Ala163=;Ala174Val;Glu176Ala;Leu180=;Leu180Trp;Ala182Val;Asp185Glu;Thr187Pro;Thr187Arg;Glu190Asp;Trp191Gly]) n.[192C>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;1336C>T] n.[192C>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;1318C>T] n.[194C>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;1316C>T] n.[177+21C>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;1336C>T] | |
| 6 | g.29942875C>T | CA3693066 | HLA-A | c.192C>T (p.Ala64=) n.468C>T c.108C>T (p.Ala36=) n.193G>A n.192C>T n.194C>T n.177+21C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.[29942875C>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] | CA2573333209 | HLA-A | c.[192C>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.[Ala64=;Arg68Lys;Val91Met;Gln94His;Val100Ala;Asp101Asn;Ala114Asp;Ser129Pro;Ala163=;Ala174Val;Glu176Ala;Leu180=;Leu180Trp;Ala182Val;Asp185Glu;Thr187Pro;Thr187Arg;Glu190Asp;Trp191Gly]) n.[468C>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.[108C>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.[Ala36=;Arg40Lys;Val63Met;Gln66His;Val72Ala;Asp73Asn;Ala86Asp;Ser101Pro;Ala135=;Ala146Val;Glu148Ala;Leu152=;Leu152Trp;Ala154Val;Asp157Glu;Thr159Pro;Thr159Arg;Glu162Asp;Trp163Gly]) n.[192C>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.[194C>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+21C>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.29942876del | CA2677794024 | HLA-A | c.193del (p.Ala65ArgfsTer12) n.469del c.109del (p.Ala37ArgfsTer12) n.192del n.193del n.195del n.177+22del | gnomAD v4 |
| 6 | g.29942876G>A | CA136019554 | HLA-A | c.193G>A (p.Ala65Thr) n.469G>A c.109G>A (p.Ala37Thr) n.192C>T n.193G>A n.195G>A n.177+22G>A | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.29942876G>C | CA136019552 | HLA-A | c.193G>C (p.Ala65Pro) n.469G>C c.109G>C (p.Ala37Pro) n.192C>G n.193G>C n.195G>C n.177+22G>C | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.29942876G= | CA1618523880 | HLA-A | c.193G= (p.Ala65=) n.469G= c.109G= (p.Ala37=) n.192C= n.193G= n.195G= n.177+22G= | |
| 6 | g.29942876G>T | CA136019548 | HLA-A | c.193G>T (p.Ala65Ser) n.469G>T c.109G>T (p.Ala37Ser) n.192C>A n.193G>T n.195G>T n.177+22G>T | dbSNP gnomAD v4 |
| 6 | g.29942877C>A | CA3693067 | HLA-A | c.194C>A (p.Ala65Glu) n.470C>A c.110C>A (p.Ala37Glu) n.191G>T n.194C>A n.196C>A n.177+23C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.29942877C= | CA1618523885 | HLA-A | c.194C= (p.Ala65=) n.470C= c.110C= (p.Ala37=) n.191G= n.194C= n.196C= n.177+23C= | |
| 6 | g.29942877C>G | CA136019557 | HLA-A | c.194C>G (p.Ala65Gly) n.470C>G c.110C>G (p.Ala37Gly) n.191G>C n.194C>G n.196C>G n.177+23C>G | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.[29942877C>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] | CA2573333210 | HLA-A | c.[194C>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.[Ala65Gly;Arg68Lys;Val91Met;Gln94His;Val100Ala;Asp101Asn;Ala114Asp;Ser129Pro;Ala163=;Ala174Val;Glu176Ala;Leu180=;Leu180Trp;Ala182Val;Asp185Glu;Thr187Pro;Thr187Arg;Glu190Asp;Trp191Gly]) n.[470C>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.[110C>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.[Ala37Gly;Arg40Lys;Val63Met;Gln66His;Val72Ala;Asp73Asn;Ala86Asp;Ser101Pro;Ala135=;Ala146Val;Glu148Ala;Leu152=;Leu152Trp;Ala154Val;Asp157Glu;Thr159Pro;Thr159Arg;Glu162Asp;Trp163Gly]) n.[194C>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.[196C>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.[177+23C>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.29942877C>T | CA136019558 | HLA-A | c.194C>T (p.Ala65Val) n.470C>T c.110C>T (p.Ala37Val) n.191G>A n.194C>T n.196C>T n.177+23C>T | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.29942878G>A | CA136019562 | HLA-A | c.195G>A (p.Ala65=) n.471G>A c.111G>A (p.Ala37=) n.190C>T n.195G>A n.197G>A n.177+24G>A | dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 6 | g.[29942878G>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] | CA2573333211 | HLA-A | c.[195G>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.[Ala65=;Arg68Lys;Val91Met;Gln94His;Val100Ala;Asp101Asn;Ala114Asp;Ser129Pro;Ala163=;Ala174Val;Glu176Ala;Leu180=;Leu180Trp;Ala182Val;Asp185Glu;Thr187Pro;Thr187Arg;Glu190Asp;Trp191Gly]) n.[471G>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.[111G>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.[Ala37=;Arg40Lys;Val63Met;Gln66His;Val72Ala;Asp73Asn;Ala86Asp;Ser101Pro;Ala135=;Ala146Val;Glu148Ala;Leu152=;Leu152Trp;Ala154Val;Asp157Glu;Thr159Pro;Thr159Arg;Glu162Asp;Trp163Gly]) n.[195G>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.[197G>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.[177+24G>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.29942878G>C | CA136019566 | HLA-A | c.195G>C (p.Ala65=) n.471G>C c.111G>C (p.Ala37=) n.190C>G n.195G>C n.197G>C n.177+24G>C | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.[29942878G>C;29942886G>A;29942954G>A;29942965G>C;29942982T>C;29942984G>A;29943024C>A;29943287A>G;29943309T>C;29943413G>A;29943445C>T;29943451A>C;29943462T>C;29943463T>G;29943469C>T;29943479T>G;29943483A>C;29943484C>G;29943494G>C;29943495T>G;29944591C>T;29945265C>T] | CA2573333212 | HLA-A | c.[195G>C;203G>A;271G>A;282G>C;299T>C;301G>A;341C>A;363A>G;385T>C;489G>A;521C>T;527A>C;538T>C;539T>G;545C>T;555T>G;559A>C;560C>G;570G>C;571T>G;895+194C>T;960C>T] (p.[Ala65=;Arg68Lys;Val91Met;Gln94His;Val100Ala;Asp101Asn;Ala114Asp;Ile121Met;Ser129Pro;Ala163=;Ala174Val;Glu176Ala;Leu180=;Leu180Trp;Ala182Val;Asp185Glu;Thr187Pro;Thr187Arg;Glu190Asp;Trp191Gly;Ser320=]) n.[471G>C;479G>A;547G>A;558G>C;575T>C;577G>A;617C>A;639A>G;661T>C;765G>A;797C>T;803A>C;814T>C;815T>G;821C>T;831T>G;835A>C;836C>G;846G>C;847T>G;1943C>T;2617C>T] c.[195G>C;203G>A;271G>A;282G>C;299T>C;301G>A;341C>A;363A>G;385T>C;489G>A;521C>T;527A>C;538T>C;539T>G;545C>T;555T>G;559A>C;560C>G;570G>C;571T>G;1021C>T;*61C>T] ([p.Ala65=;p.Arg68Lys;p.Val91Met;p.Gln94His;p.Val100Ala;p.Asp101Asn;p.Ala114Asp;p.Ile121Met;p.Ser129Pro;p.Ala163=;p.Ala174Val;p.Glu176Ala;p.Leu180=;p.Leu180Trp;p.Ala182Val;p.Asp185Glu;p.Thr187Pro;p.Thr187Arg;p.Glu190Asp;p.Trp191Gly;p.Arg341Cys;n.*61C>T]) c.[195G>C;203G>A;271G>A;282G>C;299T>C;301G>A;341C>A;363A>G;385T>C;489G>A;521C>T;527A>C;538T>C;539T>G;545C>T;555T>G;559A>C;560C>G;570G>C;571T>G;987C>T;1077C>T] (p.[Ala65=;Arg68Lys;Val91Met;Gln94His;Val100Ala;Asp101Asn;Ala114Asp;Ile121Met;Ser129Pro;Ala163=;Ala174Val;Glu176Ala;Leu180=;Leu180Trp;Ala182Val;Asp185Glu;Thr187Pro;Thr187Arg;Glu190Asp;Trp191Gly;Ala329=;Ser359=]) n.[471G>C;479G>A;547G>A;558G>C;575T>C;577G>A;617C>A;639A>G;661T>C;765G>A;797C>T;803A>C;814T>C;815T>G;821C>T;831T>G;835A>C;836C>G;846G>C;847T>G;1365C>T;1897C>T] n.[471G>C;479G>A;547G>A;558G>C;575T>C;577G>A;617C>A;639A>G;661T>C;765G>A;797C>T;803A>C;814T>C;815T>G;821C>T;831T>G;835A>C;836C>G;846G>C;847T>G;1841C>T;2373C>T] n.[471G>C;479G>A;547G>A;558G>C;575T>C;577G>A;617C>A;639A>G;661T>C;765G>A;797C>T;803A>C;814T>C;815T>G;821C>T;831T>G;835A>C;836C>G;846G>C;847T>G;1263C>T;1795C>T] c.[195G>C;203G>A;271G>A;282G>C;299T>C;301G>A;341C>A;363A>G;385T>C;489G>A;521C>T;527A>C;538T>C;539T>G;545C>T;555T>G;559A>C;560C>G;570G>C;571T>G;987C>T;1095C>T] (p.[Ala65=;Arg68Lys;Val91Met;Gln94His;Val100Ala;Asp101Asn;Ala114Asp;Ile121Met;Ser129Pro;Ala163=;Ala174Val;Glu176Ala;Leu180=;Leu180Trp;Ala182Val;Asp185Glu;Thr187Pro;Thr187Arg;Glu190Asp;Trp191Gly;Ala329=;Ser365=]) n.[471G>C;479G>A;547G>A;558G>C;575T>C;577G>A;617C>A;639A>G;661T>C;765G>A;797C>T;803A>C;814T>C;815T>G;821C>T;831T>G;835A>C;836C>G;846G>C;847T>G;1841C>T;1931C>T] c.[111G>C;119G>A;187G>A;198G>C;215T>C;217G>A;257C>A;279A>G;301T>C;405G>A;437C>T;443A>C;454T>C;455T>G;461C>T;471T>G;475A>C;476C>G;486G>C;487T>G;903C>T;993C>T] (p.[Ala37=;Arg40Lys;Val63Met;Gln66His;Val72Ala;Asp73Asn;Ala86Asp;Ile93Met;Ser101Pro;Ala135=;Ala146Val;Glu148Ala;Leu152=;Leu152Trp;Ala154Val;Asp157Glu;Thr159Pro;Thr159Arg;Glu162Asp;Trp163Gly;Ala301=;Ser331=]) c.[195G>C;203G>A;271G>A;282G>C;299T>C;301G>A;341C>A;363A>G;385T>C;489G>A;521C>T;527A>C;538T>C;539T>G;545C>T;555T>G;559A>C;560C>G;570G>C;571T>G;895+194C>T;896-186C>T] (p.[Ala65=;Arg68Lys;Val91Met;Gln94His;Val100Ala;Asp101Asn;Ala114Asp;Ile121Met;Ser129Pro;Ala163=;Ala174Val;Glu176Ala;Leu180=;Leu180Trp;Ala182Val;Asp185Glu;Thr187Pro;Thr187Arg;Glu190Asp;Trp191Gly]) n.[195G>C;203G>A;271G>A;282G>C;299T>C;301G>A;341C>A;604A>G;626T>C;730G>A;762C>T;768A>C;779T>C;780T>G;786C>T;796T>G;800A>C;801C>G;811G>C;812T>G;1228C>T;1336C>T] n.[195G>C;203G>A;271G>A;282G>C;299T>C;301G>A;341C>A;604A>G;626T>C;730G>A;762C>T;768A>C;779T>C;780T>G;786C>T;796T>G;800A>C;801C>G;811G>C;812T>G;1228C>T;1318C>T] n.[197G>C;205G>A;273G>A;284G>C;301T>C;303G>A;343C>A;606A>G;628T>C;732G>A;764C>T;770A>C;781T>C;782T>G;788C>T;798T>G;802A>C;803C>G;813G>C;814T>G;1230C>T;1316C>T] n.[177+24G>C;177+32G>A;177+100G>A;177+111G>C;177+128T>C;177+130G>A;177+170C>A;180A>G;202T>C;306G>A;338C>T;344A>C;355T>C;356T>G;362C>T;372T>G;376A>C;377C>G;387G>C;388T>G;804C>T;1336C>T] | |
| 6 | g.[29942878G>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] | CA2573333213 | HLA-A | c.[195G>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.[Ala65=;Arg68Lys;Val91Met;Gln94His;Val100Ala;Asp101Asn;Ala114Asp;Ser129Pro;Ala163=;Ala174Val;Glu176Ala;Leu180=;Leu180Trp;Ala182Val;Asp185Glu;Thr187Pro;Thr187Arg;Glu190Asp;Trp191Gly;Ser320=]) n.[471G>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.[195G>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.Ala65=;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.[195G>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.[Ala65=;Arg68Lys;Val91Met;Gln94His;Val100Ala;Asp101Asn;Ala114Asp;Ser129Pro;Ala163=;Ala174Val;Glu176Ala;Leu180=;Leu180Trp;Ala182Val;Asp185Glu;Thr187Pro;Thr187Arg;Glu190Asp;Trp191Gly;Ser359=]) n.[471G>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.[471G>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.[471G>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.[195G>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.[Ala65=;Arg68Lys;Val91Met;Gln94His;Val100Ala;Asp101Asn;Ala114Asp;Ser129Pro;Ala163=;Ala174Val;Glu176Ala;Leu180=;Leu180Trp;Ala182Val;Asp185Glu;Thr187Pro;Thr187Arg;Glu190Asp;Trp191Gly;Ser365=]) n.[471G>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.[111G>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.[Ala37=;Arg40Lys;Val63Met;Gln66His;Val72Ala;Asp73Asn;Ala86Asp;Ser101Pro;Ala135=;Ala146Val;Glu148Ala;Leu152=;Leu152Trp;Ala154Val;Asp157Glu;Thr159Pro;Thr159Arg;Glu162Asp;Trp163Gly;Ser331=]) c.[195G>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.[Ala65=;Arg68Lys;Val91Met;Gln94His;Val100Ala;Asp101Asn;Ala114Asp;Ser129Pro;Ala163=;Ala174Val;Glu176Ala;Leu180=;Leu180Trp;Ala182Val;Asp185Glu;Thr187Pro;Thr187Arg;Glu190Asp;Trp191Gly]) n.[195G>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.[195G>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.[197G>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.[177+24G>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.29942878G= | CA1618523890 | HLA-A | c.195G= (p.Ala65=) n.471G= c.111G= (p.Ala37=) n.190C= n.195G= n.197G= n.177+24G= | |
| 6 | g.29942878G>T | CA449461316 | HLA-A | c.195G>T (p.Ala65=) n.471G>T c.111G>T (p.Ala37=) n.190C>A n.195G>T n.197G>T n.177+24G>T | gnomAD v3 gnomAD v4 |
| 6 | g.29942879A= | CA1618523894 | HLA-A | c.196A= (p.Ser66=) n.472A= c.112A= (p.Ser38=) n.189T= n.196A= n.198A= n.177+25A= | |
| 6 | g.29942879A>C | CA363289779 | HLA-A | c.196A>C (p.Ser66Arg) n.472A>C c.112A>C (p.Ser38Arg) n.189T>G n.196A>C n.198A>C n.177+25A>C | |
| 6 | g.29942879A>G | CA136019570 | HLA-A | c.196A>G (p.Ser66Gly) n.472A>G c.112A>G (p.Ser38Gly) n.189T>C n.196A>G n.198A>G n.177+25A>G | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.29942879A>T | CA363289776 | HLA-A | c.196A>T (p.Ser66Cys) n.472A>T c.112A>T (p.Ser38Cys) n.189T>A n.196A>T n.198A>T n.177+25A>T | gnomAD v4 |
| 6 | g.29942879_29942880insATCC | CA2543873304 | HLA-A | c.196_197insATCC (p.Ser66AsnfsTer?) n.472_473insATCC c.112_113insATCC (p.Ser38AsnfsTer?) n.188_189insGGAT n.196_197insATCC n.198_199insATCC n.177+25_177+26insATCC | |
| 6 | g.29942880G>A | CA363289780 | HLA-A | c.197G>A (p.Ser66Asn) n.473G>A c.113G>A (p.Ser38Asn) n.188C>T n.197G>A n.199G>A n.177+26G>A | gnomAD v4 |
| 6 | g.[29942880G>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] | CA2573333214 | HLA-A | c.[197G>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.[Ser66Asn;Arg68Lys;Val91Met;Gln94His;Val100Ala;Asp101Asn;Ala114Asp;Ser129Pro;Ala163=;Ala174Val;Glu176Ala;Leu180=;Leu180Trp;Ala182Val;Asp185Glu;Thr187Pro;Thr187Arg;Glu190Asp;Trp191Gly]) n.[473G>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.[113G>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.[Ser38Asn;Arg40Lys;Val63Met;Gln66His;Val72Ala;Asp73Asn;Ala86Asp;Ser101Pro;Ala135=;Ala146Val;Glu148Ala;Leu152=;Leu152Trp;Ala154Val;Asp157Glu;Thr159Pro;Thr159Arg;Glu162Asp;Trp163Gly]) n.[197G>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.[199G>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.[177+26G>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.29942880G>C | CA363289781 | HLA-A | c.197G>C (p.Ser66Thr) n.473G>C c.113G>C (p.Ser38Thr) n.188C>G n.197G>C n.199G>C n.177+26G>C | |
| 6 | g.29942880G= | CA1618523896 | HLA-A | c.197G= (p.Ser66=) n.473G= c.113G= (p.Ser38=) n.188C= n.197G= n.199G= n.177+26G= | |
| 6 | g.29942880G>T | CA363289783 | HLA-A | c.197G>T (p.Ser66Ile) n.473G>T c.113G>T (p.Ser38Ile) n.188C>A n.197G>T n.199G>T n.177+26G>T | gnomAD v3 gnomAD v4 |
| 6 | g.29942880_29942881insT | CA1087339927 | HLA-A | c.197_198insT (p.Gln67ProfsTer?) n.473_474insT c.113_114insT (p.Gln39ProfsTer?) n.187_188insA n.197_198insT n.199_200insT n.177+26_177+27insT | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.29942880_29942881insTC | CA1618523900 | HLA-A | c.197_198insTC (p.Gln67ProfsTer11) n.473_474insTC c.113_114insTC (p.Gln39ProfsTer11) n.187_188insGA n.197_198insTC n.199_200insTC n.177+26_177+27insTC | dbSNP |
| 6 | g.29942881C>A | CA363289784 | HLA-A | c.198C>A (p.Ser66Arg) n.474C>A c.114C>A (p.Ser38Arg) n.187G>T n.198C>A n.200C>A n.177+27C>A | gnomAD v3 gnomAD v4 |
| 6 | g.29942881C= | CA1618523901 | HLA-A | c.198C= (p.Ser66=) n.474C= c.114C= (p.Ser38=) n.187G= n.198C= n.200C= n.177+27C= |