| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.29942780_29942782del | CA2677793872 | HLA-A | c.97_99del (p.Phe33del) n.373_375del c.13_15del (p.Phe5del) n.289_291del n.97_99del n.99_101del n.103_105del | gnomAD v4 |
| 6 | g.29942779_29942780del | CA2677793874 | HLA-A | c.96_97del (p.Phe33HisfsTer?) n.372_373del c.12_13del (p.Phe5HisfsTer?) n.289_290del n.96_97del n.98_99del n.102_103del | gnomAD v4 |
| 6 | g.29942779C>A | CA363289628 | HLA-A | c.96C>A (p.Phe32Leu) n.372C>A c.12C>A (p.Phe4Leu) n.289G>T n.96C>A n.98C>A n.102C>A | gnomAD v3 gnomAD v4 |
| 6 | g.29942779C= | CA1618523524 | HLA-A | c.96C= (p.Phe32=) n.372C= c.12C= (p.Phe4=) n.289G= n.96C= n.98C= n.102C= | |
| 6 | g.29942779C>G | CA136018960 | HLA-A | c.96C>G (p.Phe32Leu) n.372C>G c.12C>G (p.Phe4Leu) n.289G>C n.96C>G n.98C>G n.102C>G | dbSNP gnomAD v4 |
| 6 | g.29942779C>T | CA449461018 | HLA-A | c.96C>T (p.Phe32=) n.372C>T c.12C>T (p.Phe4=) n.289G>A n.96C>T n.98C>T n.102C>T | gnomAD v4 |
| 6 | g.29942779_29942780insAC | CA2677793878 | HLA-A | c.96_97insAC (p.Phe33ThrfsTer?) n.372_373insAC c.12_13insAC (p.Phe5ThrfsTer?) n.289_290insTG n.96_97insAC n.98_99insAC n.102_103insAC | gnomAD v4 |
| 6 | g.29942779_29942781delinsCTT | CA1618523522 | HLA-A | c.96_98delinsCTT (p.Phe32=) n.372_374delinsCTT c.12_14delinsCTT (p.Phe4=) n.287_289delinsAAG n.96_98delinsCTT n.98_100delinsCTT n.102_104delinsCTT | |
| 6 | g.29942780T>A | CA3693019 | HLA-A | c.97T>A (p.Phe33Ile) n.373T>A c.13T>A (p.Phe5Ile) n.288A>T n.97T>A n.99T>A n.103T>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.29942780T>C | CA136018963 | HLA-A | c.97T>C (p.Phe33Leu) n.373T>C c.13T>C (p.Phe5Leu) n.288A>G n.97T>C n.99T>C n.103T>C | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.29942780T>G | CA363289629 | HLA-A | c.97T>G (p.Phe33Val) n.373T>G c.13T>G (p.Phe5Val) n.288A>C n.97T>G n.99T>G n.103T>G | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.29942780T= | CA1618523537 | HLA-A | c.97T= (p.Phe33=) n.373T= c.13T= (p.Phe5=) n.288A= n.97T= n.99T= n.103T= | |
| 6 | g.29942780_29942781del | CA3693018 | HLA-A | c.97_98del (p.Phe33HisfsTer?) n.373_374del c.13_14del (p.Phe5HisfsTer?) n.287_288del n.97_98del n.99_100del n.103_104del | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.29942780_29942781delinsA | CA917707096 | HLA-A | c.97_98delinsA (p.Phe33ThrfsTer?) n.373_374delinsA c.13_14delinsA (p.Phe5ThrfsTer?) n.287_288delinsT n.97_98delinsA n.99_100delinsA n.103_104delinsA | dbSNP |
| 6 | g.29942780_29942781delinsC | CA136018965 | HLA-A | c.97_98delinsC (p.Phe33ProfsTer?) n.373_374delinsC c.13_14delinsC (p.Phe5ProfsTer?) n.287_288delinsG n.97_98delinsC n.99_100delinsC n.103_104delinsC | dbSNP |
| 6 | g.29942780_29942781delinsAC | CA136018976 | HLA-A | c.97_98delinsAC (p.Phe33Thr) n.373_374delinsAC c.13_14delinsAC (p.Phe5Thr) n.287_288delinsGT n.97_98delinsAC n.99_100delinsAC n.103_104delinsAC | dbSNP |
| 6 | g.29942780_29942781delinsTT | CA1618523533 | HLA-A | c.97_98delinsTT (p.Phe33=) n.373_374delinsTT c.13_14delinsTT (p.Phe5=) n.287_288delinsAA n.97_98delinsTT n.99_100delinsTT n.103_104delinsTT | |
| 6 | g.29942781del | CA136018971 | HLA-A | c.98del (p.Phe33SerfsTer?) n.374del c.14del (p.Phe5SerfsTer?) n.288del n.98del n.100del n.104del | dbSNP gnomAD v4 |
| 6 | g.29942781T>A | CA3693021 | HLA-A | c.98T>A (p.Phe33Tyr) n.374T>A c.14T>A (p.Phe5Tyr) n.287A>T n.98T>A n.100T>A n.104T>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.29942781T>C | CA3693020 | HLA-A | c.98T>C (p.Phe33Ser) n.374T>C c.14T>C (p.Phe5Ser) n.287A>G n.98T>C n.100T>C n.104T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.[29942781T>C;29942804C>A;29942806C>T;29942809G>A;29942827C>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] | CA2573131698 | HLA-A | c.[98T>C;121C>A;123C>T;126G>A;144C>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.[Phe33Ser;Arg41Ser;Arg41=;Gly42=;Ala48=;Arg68Lys;Val91Met;Gln94His;Val100Ala;Asp101Asn;Ala114Asp;Ser129Pro;Ala163=;Ala174Val;Glu176Ala;Leu180=;Leu180Trp;Ala182Val;Asp185Glu;Thr187Pro;Thr187Arg;Glu190Asp;Trp191Gly;Ser320=]) n.[374T>C;397C>A;399C>T;402G>A;420C>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.[98T>C;121C>A;123C>T;126G>A;144C>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.Phe33Ser;p.Arg41Ser;p.Arg41=;p.Gly42=;p.Ala48=;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.[98T>C;121C>A;123C>T;126G>A;144C>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.[Phe33Ser;Arg41Ser;Arg41=;Gly42=;Ala48=;Arg68Lys;Val91Met;Gln94His;Val100Ala;Asp101Asn;Ala114Asp;Ser129Pro;Ala163=;Ala174Val;Glu176Ala;Leu180=;Leu180Trp;Ala182Val;Asp185Glu;Thr187Pro;Thr187Arg;Glu190Asp;Trp191Gly;Ser359=]) n.[374T>C;397C>A;399C>T;402G>A;420C>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.[374T>C;397C>A;399C>T;402G>A;420C>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.[374T>C;397C>A;399C>T;402G>A;420C>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.[98T>C;121C>A;123C>T;126G>A;144C>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.[Phe33Ser;Arg41Ser;Arg41=;Gly42=;Ala48=;Arg68Lys;Val91Met;Gln94His;Val100Ala;Asp101Asn;Ala114Asp;Ser129Pro;Ala163=;Ala174Val;Glu176Ala;Leu180=;Leu180Trp;Ala182Val;Asp185Glu;Thr187Pro;Thr187Arg;Glu190Asp;Trp191Gly;Ser365=]) n.[374T>C;397C>A;399C>T;402G>A;420C>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.[14T>C;37C>A;39C>T;42G>A;60C>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.[Phe5Ser;Arg13Ser;Arg13=;Gly14=;Ala20=;Arg40Lys;Val63Met;Gln66His;Val72Ala;Asp73Asn;Ala86Asp;Ser101Pro;Ala135=;Ala146Val;Glu148Ala;Leu152=;Leu152Trp;Ala154Val;Asp157Glu;Thr159Pro;Thr159Arg;Glu162Asp;Trp163Gly;Ser331=]) c.[98T>C;121C>A;123C>T;126G>A;144C>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.[Phe33Ser;Arg41Ser;Arg41=;Gly42=;Ala48=;Arg68Lys;Val91Met;Gln94His;Val100Ala;Asp101Asn;Ala114Asp;Ser129Pro;Ala163=;Ala174Val;Glu176Ala;Leu180=;Leu180Trp;Ala182Val;Asp185Glu;Thr187Pro;Thr187Arg;Glu190Asp;Trp191Gly]) n.[98T>C;121C>A;123C>T;126G>A;144C>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.[98T>C;121C>A;123C>T;126G>A;144C>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.[100T>C;123C>A;125C>T;128G>A;146C>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.[104T>C;127C>A;129C>T;132G>A;150C>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.29942781T>G | CA363289630 | HLA-A | c.98T>G (p.Phe33Cys) n.374T>G c.14T>G (p.Phe5Cys) n.287A>C n.98T>G n.100T>G n.104T>G | gnomAD v3 gnomAD v4 |
| 6 | g.29942781T= | CA1618523543 | HLA-A | c.98T= (p.Phe33=) n.374T= c.14T= (p.Phe5=) n.287A= n.98T= n.100T= n.104T= | |
| 6 | g.29942781_29942782del | CA2677793882 | HLA-A | c.98_99del (p.Phe33TyrfsTer?) n.374_375del c.14_15del (p.Phe5TyrfsTer?) n.286_287del n.98_99del n.100_101del n.104_105del | gnomAD v4 |
| 6 | g.29942781_29942782insAC | CA2677793885 | HLA-A | c.98_99insAC (p.Phe33LeufsTer?) n.374_375insAC c.14_15insAC (p.Phe5LeufsTer?) n.286_287insGT n.98_99insAC n.100_101insAC n.104_105insAC | gnomAD v4 |
| 6 | g.29942782del | CA2677793888 | HLA-A | c.99del (p.Phe33LeufsTer?) n.375del c.15del (p.Phe5LeufsTer?) n.286del n.99del n.101del n.105del | gnomAD v4 |
| 6 | g.29942782C>A | CA363289631 | HLA-A | c.99C>A (p.Phe33Leu) n.375C>A c.15C>A (p.Phe5Leu) n.286G>T n.99C>A n.101C>A n.105C>A | gnomAD v4 |
| 6 | g.29942782C>G | CA363289632 | HLA-A | c.99C>G (p.Phe33Leu) n.375C>G c.15C>G (p.Phe5Leu) n.286G>C n.99C>G n.101C>G n.105C>G | gnomAD v4 |
| 6 | g.29942782C>T | CA449461019 | HLA-A | c.99C>T (p.Phe33=) n.375C>T c.15C>T (p.Phe5=) n.286G>A n.99C>T n.101C>T n.105C>T | gnomAD v4 |
| 6 | g.29942782_29942784dup | CA2677793887 | HLA-A | c.99_101dup (p.Thr34_Ser35insThr) n.375_377dup c.15_17dup (p.Thr6_Ser7insThr) n.284_286dup n.99_101dup n.101_103dup n.105_107dup | gnomAD v4 |
| 6 | g.29942784_29942785del | CA2677793889 | HLA-A | c.101_102del (p.Thr34IlefsTer?) n.377_378del c.17_18del (p.Thr6IlefsTer?) n.285_286del n.101_102del n.103_104del n.107_108del | gnomAD v4 |
| 6 | g.29942783A= | CA1618523555 | HLA-A | c.100A= (p.Thr34=) n.376A= c.16A= (p.Thr6=) n.285T= n.100A= n.102A= n.106A= | |
| 6 | g.29942783A>C | CA363289633 | HLA-A | c.100A>C (p.Thr34Pro) n.376A>C c.16A>C (p.Thr6Pro) n.285T>G n.100A>C n.102A>C n.106A>C | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.29942783A>G | CA363289634 | HLA-A | c.100A>G (p.Thr34Ala) n.376A>G c.16A>G (p.Thr6Ala) n.285T>C n.100A>G n.102A>G n.106A>G | gnomAD v4 |
| 6 | g.29942783A>T | CA363289635 | HLA-A | c.100A>T (p.Thr34Ser) n.376A>T c.16A>T (p.Thr6Ser) n.285T>A n.100A>T n.102A>T n.106A>T | gnomAD v3 gnomAD v4 |
| 6 | g.29942784C>A | CA363289636 | HLA-A | c.101C>A (p.Thr34Lys) n.377C>A c.17C>A (p.Thr6Lys) n.284G>T n.101C>A n.103C>A n.107C>A | gnomAD v4 |
| 6 | g.[29942784C>A;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] | CA2573332985 | HLA-A | c.[101C>A;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.[Thr34Lys;Phe60=;Gln94His;Val100Glu;Asp101Asn;Asp101Gly;Gly103Arg;Thr104Ile;Leu105Val;Leu105Pro;Arg106Leu;Gly107Arg;Ile121Met;Ser129Pro;Phe133Leu;Arg138Gln;Leu150=;Lys168Gln;His175Arg;Glu176Val;Asp185Glu]) n.[377C>A;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.[17C>A;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.[Thr6Lys;Phe32=;Gln66His;Val72Glu;Asp73Asn;Asp73Gly;Gly75Arg;Thr76Ile;Leu77Val;Leu77Pro;Arg78Leu;Gly79Arg;Ile93Met;Ser101Pro;Phe105Leu;Arg110Gln;Leu122=;Lys140Gln;His147Arg;Glu148Val;Asp157Glu]) n.[101C>A;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.[103C>A;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.[107C>A;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.29942784C= | CA1618523559 | HLA-A | c.101C= (p.Thr34=) n.377C= c.17C= (p.Thr6=) n.284G= n.101C= n.103C= n.107C= | |
| 6 | g.29942784C>G | CA363289637 | HLA-A | c.101C>G (p.Thr34Arg) n.377C>G c.17C>G (p.Thr6Arg) n.284G>C n.101C>G n.103C>G n.107C>G | gnomAD v4 |
| 6 | g.29942784C>T | CA136018990 | HLA-A | c.101C>T (p.Thr34Ile) n.377C>T c.17C>T (p.Thr6Ile) n.284G>A n.101C>T n.103C>T n.107C>T | dbSNP gnomAD v4 |
| 6 | g.[29942784C>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] | CA2573332986 | HLA-A | c.[101C>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.[Thr34Ile;Phe60=;Gln94His;Val100Glu;Asp101Asn;Asp101Gly;Gly103Arg;Thr104Ile;Leu105Val;Leu105Pro;Arg106Leu;Gly107Arg;Ile121Met;Ser129Pro;Phe133Leu;Arg138Gln;Leu150=;Lys168Gln;His175Arg;Glu176Val;Asp185Glu]) n.[377C>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.[17C>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.[Thr6Ile;Phe32=;Gln66His;Val72Glu;Asp73Asn;Asp73Gly;Gly75Arg;Thr76Ile;Leu77Val;Leu77Pro;Arg78Leu;Gly79Arg;Ile93Met;Ser101Pro;Phe105Leu;Arg110Gln;Leu122=;Lys140Gln;His147Arg;Glu148Val;Asp157Glu]) n.[101C>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.[103C>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.[107C>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.[29942784C>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] | CA2573332987 | HLA-A | c.[101C>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.[Thr34Ile;Arg68Lys;Val91Met;Gln94His;Val100Ala;Asp101Asn;Ala114Asp;Ser129Pro;Ala163=;Ala174Val;Glu176Ala;Leu180=;Leu180Trp;Ala182Val;Asp185Glu;Thr187Pro;Thr187Arg;Glu190Asp;Trp191Gly;Ser320=]) n.[377C>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.[101C>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.Thr34Ile;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.[101C>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.[Thr34Ile;Arg68Lys;Val91Met;Gln94His;Val100Ala;Asp101Asn;Ala114Asp;Ser129Pro;Ala163=;Ala174Val;Glu176Ala;Leu180=;Leu180Trp;Ala182Val;Asp185Glu;Thr187Pro;Thr187Arg;Glu190Asp;Trp191Gly;Ser359=]) n.[377C>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.[377C>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.[377C>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.[101C>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.[Thr34Ile;Arg68Lys;Val91Met;Gln94His;Val100Ala;Asp101Asn;Ala114Asp;Ser129Pro;Ala163=;Ala174Val;Glu176Ala;Leu180=;Leu180Trp;Ala182Val;Asp185Glu;Thr187Pro;Thr187Arg;Glu190Asp;Trp191Gly;Ser365=]) n.[377C>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.[17C>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.[Thr6Ile;Arg40Lys;Val63Met;Gln66His;Val72Ala;Asp73Asn;Ala86Asp;Ser101Pro;Ala135=;Ala146Val;Glu148Ala;Leu152=;Leu152Trp;Ala154Val;Asp157Glu;Thr159Pro;Thr159Arg;Glu162Asp;Trp163Gly;Ser331=]) c.[101C>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.[Thr34Ile;Arg68Lys;Val91Met;Gln94His;Val100Ala;Asp101Asn;Ala114Asp;Ser129Pro;Ala163=;Ala174Val;Glu176Ala;Leu180=;Leu180Trp;Ala182Val;Asp185Glu;Thr187Pro;Thr187Arg;Glu190Asp;Trp191Gly]) n.[101C>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.[101C>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.[103C>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.[107C>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.29942784dup | CA2677793890 | HLA-A | c.101dup (p.Ser35IlefsTer?) n.377dup c.17dup (p.Ser7IlefsTer?) n.284dup n.101dup n.103dup n.107dup | gnomAD v4 |
| 6 | g.29942785A= | CA1618523562 | HLA-A | c.102A= (p.Thr34=) n.378A= c.18A= (p.Thr6=) n.283T= n.102A= n.104A= n.108A= | |
| 6 | g.29942785A>C | CA3693022 | HLA-A | c.102A>C (p.Thr34=) n.378A>C c.18A>C (p.Thr6=) n.283T>G n.102A>C n.104A>C n.108A>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.29942785A>G | CA136018998 | HLA-A | c.102A>G (p.Thr34=) n.378A>G c.18A>G (p.Thr6=) n.283T>C n.102A>G n.104A>G n.108A>G | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.29942785A>T | CA3693023 | HLA-A | c.102A>T (p.Thr34=) n.378A>T c.18A>T (p.Thr6=) n.283T>A n.102A>T n.104A>T n.108A>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.29942785_29942788delinsATCC | CA1618523564 | HLA-A | c.102_105delinsATCC (p.Thr34=) n.378_381delinsATCC c.18_21delinsATCC (p.Thr6=) n.280_283delinsGGAT n.102_105delinsATCC n.104_107delinsATCC n.108_111delinsATCC | |
| 6 | g.29942785_29942786insAC | CA2677793895 | HLA-A | c.102_103insAC (p.Ser35ThrfsTer?) n.378_379insAC c.18_19insAC (p.Ser7ThrfsTer?) n.282_283insGT n.102_103insAC n.104_105insAC n.108_109insAC | gnomAD v4 |
| 6 | g.29942785_29942786insAT | CA2677793894 | HLA-A | c.102_103insAT (p.Ser35IlefsTer?) n.378_379insAT c.18_19insAT (p.Ser7IlefsTer?) n.282_283insAT n.102_103insAT n.104_105insAT n.108_109insAT | gnomAD v4 |