Chr Mutation (hg38) CAid Gene Transcript Linkouts
10g.75028588_75028592delinsGTCTACA1920306393DUSP29,KAT6Bc.3764_3768delinsGTCTA (p.Gly1255=)
c.3215_3219delinsGTCTA (p.Gly1072=)
c.2888_2892delinsGTCTA (p.Gly963=)
c.2699_2703delinsGTCTA (p.Gly900=)
n.577-1998_577-1994delinsTAGAC
c.*3622-1998_*3622-1994delinsTAGAC (n.*3622-1998_*3622-1994delinsTAGAC)
c.3602_3606delinsGTCTA (p.Gly1201=)
c.2726_2730delinsGTCTA (p.Gly909=)
c.2075_2079delinsGTCTA (p.Gly692=)
c.1679_1683delinsGTCTA (p.Gly560=)
c.1421_1425delinsGTCTA (p.Gly474=)
10g.75028589T>ACA470299512DUSP29,KAT6Bc.3765T>A (p.Gly1255=)
c.3216T>A (p.Gly1072=)
c.2889T>A (p.Gly963=)
c.2700T>A (p.Gly900=)
n.577-1995A>T
c.*3622-1995A>T (n.*3622-1995A>T)
c.3603T>A (p.Gly1201=)
c.2727T>A (p.Gly909=)
c.2076T>A (p.Gly692=)
c.1680T>A (p.Gly560=)
c.1422T>A (p.Gly474=)
10g.75028589T>CCA470299514DUSP29,KAT6Bc.3765T>C (p.Gly1255=)
c.3216T>C (p.Gly1072=)
c.2889T>C (p.Gly963=)
c.2700T>C (p.Gly900=)
n.577-1995A>G
c.*3622-1995A>G (n.*3622-1995A>G)
c.3603T>C (p.Gly1201=)
c.2727T>C (p.Gly909=)
c.2076T>C (p.Gly692=)
c.1680T>C (p.Gly560=)
c.1422T>C (p.Gly474=)
 ClinVar dbSNP gnomAD v4
10g.75028589T>GCA470299513DUSP29,KAT6Bc.3765T>G (p.Gly1255=)
c.3216T>G (p.Gly1072=)
c.2889T>G (p.Gly963=)
c.2700T>G (p.Gly900=)
n.577-1995A>C
c.*3622-1995A>C (n.*3622-1995A>C)
c.3603T>G (p.Gly1201=)
c.2727T>G (p.Gly909=)
c.2076T>G (p.Gly692=)
c.1680T>G (p.Gly560=)
c.1422T>G (p.Gly474=)
 gnomAD v4
10g.75028589T=CA1920306394DUSP29,KAT6Bc.3765T= (p.Gly1255=)
c.3216T= (p.Gly1072=)
c.2889T= (p.Gly963=)
c.2700T= (p.Gly900=)
n.577-1995A=
c.*3622-1995A= (n.*3622-1995A=)
c.3603T= (p.Gly1201=)
c.2727T= (p.Gly909=)
c.2076T= (p.Gly692=)
c.1680T= (p.Gly560=)
c.1422T= (p.Gly474=)
10g.75028593_75028596delCA232607DUSP29,KAT6Bc.3769_3772del (p.Lys1258GlyfsTer13)
c.3220_3223del (p.Lys1075GlyfsTer13)
c.2893_2896del (p.Lys966GlyfsTer13)
c.2704_2707del (p.Lys903GlyfsTer13)
n.577-1998_577-1995del
c.*3622-1998_*3622-1995del (n.*3622-1998_*3622-1995del)
c.3607_3610del (p.Lys1204GlyfsTer13)
c.2731_2734del (p.Lys912GlyfsTer13)
c.2080_2083del (p.Lys695GlyfsTer13)
c.1684_1687del (p.Lys563GlyfsTer13)
c.1426_1429del (p.Lys477GlyfsTer13)
 ClinVar dbSNP
10g.75028590C>ACA377291691DUSP29,KAT6Bc.3766C>A (p.Leu1256Ile)
c.3217C>A (p.Leu1073Ile)
c.2890C>A (p.Leu964Ile)
c.2701C>A (p.Leu901Ile)
n.577-1996G>T
c.*3622-1996G>T (n.*3622-1996G>T)
c.3604C>A (p.Leu1202Ile)
c.2728C>A (p.Leu910Ile)
c.2077C>A (p.Leu693Ile)
c.1681C>A (p.Leu561Ile)
c.1423C>A (p.Leu475Ile)
10g.75028590C>GCA377291693DUSP29,KAT6Bc.3766C>G (p.Leu1256Val)
c.3217C>G (p.Leu1073Val)
c.2890C>G (p.Leu964Val)
c.2701C>G (p.Leu901Val)
n.577-1996G>C
c.*3622-1996G>C (n.*3622-1996G>C)
c.3604C>G (p.Leu1202Val)
c.2728C>G (p.Leu910Val)
c.2077C>G (p.Leu693Val)
c.1681C>G (p.Leu561Val)
c.1423C>G (p.Leu475Val)
10g.75028590C>TCA470299515DUSP29,KAT6Bc.3766C>T (p.Leu1256=)
c.3217C>T (p.Leu1073=)
c.2890C>T (p.Leu964=)
c.2701C>T (p.Leu901=)
n.577-1996G>A
c.*3622-1996G>A (n.*3622-1996G>A)
c.3604C>T (p.Leu1202=)
c.2728C>T (p.Leu910=)
c.2077C>T (p.Leu693=)
c.1681C>T (p.Leu561=)
c.1423C>T (p.Leu475=)
10g.75028591T>ACA377291698DUSP29,KAT6Bc.3767T>A (p.Leu1256Gln)
c.3218T>A (p.Leu1073Gln)
c.2891T>A (p.Leu964Gln)
c.2702T>A (p.Leu901Gln)
n.577-1997A>T
c.*3622-1997A>T (n.*3622-1997A>T)
c.3605T>A (p.Leu1202Gln)
c.2729T>A (p.Leu910Gln)
c.2078T>A (p.Leu693Gln)
c.1682T>A (p.Leu561Gln)
c.1424T>A (p.Leu475Gln)
10g.75028591T>CCA377291696DUSP29,KAT6Bc.3767T>C (p.Leu1256Pro)
c.3218T>C (p.Leu1073Pro)
c.2891T>C (p.Leu964Pro)
c.2702T>C (p.Leu901Pro)
n.577-1997A>G
c.*3622-1997A>G (n.*3622-1997A>G)
c.3605T>C (p.Leu1202Pro)
c.2729T>C (p.Leu910Pro)
c.2078T>C (p.Leu693Pro)
c.1682T>C (p.Leu561Pro)
c.1424T>C (p.Leu475Pro)
10g.75028591T>GCA377291694DUSP29,KAT6Bc.3767T>G (p.Leu1256Arg)
c.3218T>G (p.Leu1073Arg)
c.2891T>G (p.Leu964Arg)
c.2702T>G (p.Leu901Arg)
n.577-1997A>C
c.*3622-1997A>C (n.*3622-1997A>C)
c.3605T>G (p.Leu1202Arg)
c.2729T>G (p.Leu910Arg)
c.2078T>G (p.Leu693Arg)
c.1682T>G (p.Leu561Arg)
c.1424T>G (p.Leu475Arg)
10g.75028592A=CA1920306395DUSP29,KAT6Bc.3768A= (p.Leu1256=)
c.3219A= (p.Leu1073=)
c.2892A= (p.Leu964=)
c.2703A= (p.Leu901=)
n.577-1998T=
c.*3622-1998T= (n.*3622-1998T=)
c.3606A= (p.Leu1202=)
c.2730A= (p.Leu910=)
c.2079A= (p.Leu693=)
c.1683A= (p.Leu561=)
c.1425A= (p.Leu475=)
10g.75028592A>CCA470299516DUSP29,KAT6Bc.3768A>C (p.Leu1256=)
c.3219A>C (p.Leu1073=)
c.2892A>C (p.Leu964=)
c.2703A>C (p.Leu901=)
n.577-1998T>G
c.*3622-1998T>G (n.*3622-1998T>G)
c.3606A>C (p.Leu1202=)
c.2730A>C (p.Leu910=)
c.2079A>C (p.Leu693=)
c.1683A>C (p.Leu561=)
c.1425A>C (p.Leu475=)
10g.75028592A>GCA5564902DUSP29,KAT6Bc.3768A>G (p.Leu1256=)
c.3219A>G (p.Leu1073=)
c.2892A>G (p.Leu964=)
c.2703A>G (p.Leu901=)
n.577-1998T>C
c.*3622-1998T>C (n.*3622-1998T>C)
c.3606A>G (p.Leu1202=)
c.2730A>G (p.Leu910=)
c.2079A>G (p.Leu693=)
c.1683A>G (p.Leu561=)
c.1425A>G (p.Leu475=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.75028592A>TCA470299517DUSP29,KAT6Bc.3768A>T (p.Leu1256=)
c.3219A>T (p.Leu1073=)
c.2892A>T (p.Leu964=)
c.2703A>T (p.Leu901=)
n.577-1998T>A
c.*3622-1998T>A (n.*3622-1998T>A)
c.3606A>T (p.Leu1202=)
c.2730A>T (p.Leu910=)
c.2079A>T (p.Leu693=)
c.1683A>T (p.Leu561=)
c.1425A>T (p.Leu475=)
10g.75028592_75028595delinsATCTCA1920306396DUSP29,KAT6Bc.3768_3771delinsATCT (p.Leu1256=)
c.3219_3222delinsATCT (p.Leu1073=)
c.2892_2895delinsATCT (p.Leu964=)
c.2703_2706delinsATCT (p.Leu901=)
n.577-2001_577-1998delinsAGAT
c.*3622-2001_*3622-1998delinsAGAT (n.*3622-2001_*3622-1998delinsAGAT)
c.3606_3609delinsATCT (p.Leu1202=)
c.2730_2733delinsATCT (p.Leu910=)
c.2079_2082delinsATCT (p.Leu693=)
c.1683_1686delinsATCT (p.Leu561=)
c.1425_1428delinsATCT (p.Leu475=)
10g.75028593T>ACA377291701DUSP29,KAT6Bc.3769T>A (p.Ser1257Thr)
c.3220T>A (p.Ser1074Thr)
c.2893T>A (p.Ser965Thr)
c.2704T>A (p.Ser902Thr)
n.577-1999A>T
c.*3622-1999A>T (n.*3622-1999A>T)
c.3607T>A (p.Ser1203Thr)
c.2731T>A (p.Ser911Thr)
c.2080T>A (p.Ser694Thr)
c.1684T>A (p.Ser562Thr)
c.1426T>A (p.Ser476Thr)
10g.75028593T>CCA377291703DUSP29,KAT6Bc.3769T>C (p.Ser1257Pro)
c.3220T>C (p.Ser1074Pro)
c.2893T>C (p.Ser965Pro)
c.2704T>C (p.Ser902Pro)
n.577-1999A>G
c.*3622-1999A>G (n.*3622-1999A>G)
c.3607T>C (p.Ser1203Pro)
c.2731T>C (p.Ser911Pro)
c.2080T>C (p.Ser694Pro)
c.1684T>C (p.Ser562Pro)
c.1426T>C (p.Ser476Pro)
10g.75028593T>GCA377291704DUSP29,KAT6Bc.3769T>G (p.Ser1257Ala)
c.3220T>G (p.Ser1074Ala)
c.2893T>G (p.Ser965Ala)
c.2704T>G (p.Ser902Ala)
n.577-1999A>C
c.*3622-1999A>C (n.*3622-1999A>C)
c.3607T>G (p.Ser1203Ala)
c.2731T>G (p.Ser911Ala)
c.2080T>G (p.Ser694Ala)
c.1684T>G (p.Ser562Ala)
c.1426T>G (p.Ser476Ala)
10g.75028593_75028595delCA5564903DUSP29,KAT6Bc.3769_3771del (p.Ser1257del)
c.3220_3222del (p.Ser1074del)
c.2893_2895del (p.Ser965del)
c.2704_2706del (p.Ser902del)
n.577-2001_577-1999del
c.*3622-2001_*3622-1999del (n.*3622-2001_*3622-1999del)
c.3607_3609del (p.Ser1203del)
c.2731_2733del (p.Ser911del)
c.2080_2082del (p.Ser694del)
c.1684_1686del (p.Ser562del)
c.1426_1428del (p.Ser476del)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.75028594C>ACA377291707DUSP29,KAT6Bc.3770C>A (p.Ser1257Tyr)
c.3221C>A (p.Ser1074Tyr)
c.2894C>A (p.Ser965Tyr)
c.2705C>A (p.Ser902Tyr)
n.577-2000G>T
c.*3622-2000G>T (n.*3622-2000G>T)
c.3608C>A (p.Ser1203Tyr)
c.2732C>A (p.Ser911Tyr)
c.2081C>A (p.Ser694Tyr)
c.1685C>A (p.Ser562Tyr)
c.1427C>A (p.Ser476Tyr)
10g.75028594C=CA1920306397DUSP29,KAT6Bc.3770C= (p.Ser1257=)
c.3221C= (p.Ser1074=)
c.2894C= (p.Ser965=)
c.2705C= (p.Ser902=)
n.577-2000G=
c.*3622-2000G= (n.*3622-2000G=)
c.3608C= (p.Ser1203=)
c.2732C= (p.Ser911=)
c.2081C= (p.Ser694=)
c.1685C= (p.Ser562=)
c.1427C= (p.Ser476=)
10g.75028594C>GCA377291708DUSP29,KAT6Bc.3770C>G (p.Ser1257Cys)
c.3221C>G (p.Ser1074Cys)
c.2894C>G (p.Ser965Cys)
c.2705C>G (p.Ser902Cys)
n.577-2000G>C
c.*3622-2000G>C (n.*3622-2000G>C)
c.3608C>G (p.Ser1203Cys)
c.2732C>G (p.Ser911Cys)
c.2081C>G (p.Ser694Cys)
c.1685C>G (p.Ser562Cys)
c.1427C>G (p.Ser476Cys)
 ClinVar dbSNP gnomAD v4
10g.75028594C>TCA377291710DUSP29,KAT6Bc.3770C>T (p.Ser1257Phe)
c.3221C>T (p.Ser1074Phe)
c.2894C>T (p.Ser965Phe)
c.2705C>T (p.Ser902Phe)
n.577-2000G>A
c.*3622-2000G>A (n.*3622-2000G>A)
c.3608C>T (p.Ser1203Phe)
c.2732C>T (p.Ser911Phe)
c.2081C>T (p.Ser694Phe)
c.1685C>T (p.Ser562Phe)
c.1427C>T (p.Ser476Phe)
 dbSNP gnomAD v2 gnomAD v4
10g.75028595T>ACA470299518DUSP29,KAT6Bc.3771T>A (p.Ser1257=)
c.3222T>A (p.Ser1074=)
c.2895T>A (p.Ser965=)
c.2706T>A (p.Ser902=)
n.577-2001A>T
c.*3622-2001A>T (n.*3622-2001A>T)
c.3609T>A (p.Ser1203=)
c.2733T>A (p.Ser911=)
c.2082T>A (p.Ser694=)
c.1686T>A (p.Ser562=)
c.1428T>A (p.Ser476=)
10g.75028595T>CCA5564904DUSP29,KAT6Bc.3771T>C (p.Ser1257=)
c.3222T>C (p.Ser1074=)
c.2895T>C (p.Ser965=)
c.2706T>C (p.Ser902=)
n.577-2001A>G
c.*3622-2001A>G (n.*3622-2001A>G)
c.3609T>C (p.Ser1203=)
c.2733T>C (p.Ser911=)
c.2082T>C (p.Ser694=)
c.1686T>C (p.Ser562=)
c.1428T>C (p.Ser476=)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.75028595T>GCA470299519DUSP29,KAT6Bc.3771T>G (p.Ser1257=)
c.3222T>G (p.Ser1074=)
c.2895T>G (p.Ser965=)
c.2706T>G (p.Ser902=)
n.577-2001A>C
c.*3622-2001A>C (n.*3622-2001A>C)
c.3609T>G (p.Ser1203=)
c.2733T>G (p.Ser911=)
c.2082T>G (p.Ser694=)
c.1686T>G (p.Ser562=)
c.1428T>G (p.Ser476=)
10g.75028595T=CA1920306398DUSP29,KAT6Bc.3771T= (p.Ser1257=)
c.3222T= (p.Ser1074=)
c.2895T= (p.Ser965=)
c.2706T= (p.Ser902=)
n.577-2001A=
c.*3622-2001A= (n.*3622-2001A=)
c.3609T= (p.Ser1203=)
c.2733T= (p.Ser911=)
c.2082T= (p.Ser694=)
c.1686T= (p.Ser562=)
c.1428T= (p.Ser476=)
10g.75028596A>CCA377291713DUSP29,KAT6Bc.3772A>C (p.Lys1258Gln)
c.3223A>C (p.Lys1075Gln)
c.2896A>C (p.Lys966Gln)
c.2707A>C (p.Lys903Gln)
n.577-2002T>G
c.*3622-2002T>G (n.*3622-2002T>G)
c.3610A>C (p.Lys1204Gln)
c.2734A>C (p.Lys912Gln)
c.2083A>C (p.Lys695Gln)
c.1687A>C (p.Lys563Gln)
c.1429A>C (p.Lys477Gln)
10g.75028596A>GCA377291714DUSP29,KAT6Bc.3772A>G (p.Lys1258Glu)
c.3223A>G (p.Lys1075Glu)
c.2896A>G (p.Lys966Glu)
c.2707A>G (p.Lys903Glu)
n.577-2002T>C
c.*3622-2002T>C (n.*3622-2002T>C)
c.3610A>G (p.Lys1204Glu)
c.2734A>G (p.Lys912Glu)
c.2083A>G (p.Lys695Glu)
c.1687A>G (p.Lys563Glu)
c.1429A>G (p.Lys477Glu)
10g.75028596A>TCA377291717DUSP29,KAT6Bc.3772A>T (p.Lys1258Ter)
c.3223A>T (p.Lys1075Ter)
c.2896A>T (p.Lys966Ter)
c.2707A>T (p.Lys903Ter)
n.577-2002T>A
c.*3622-2002T>A (n.*3622-2002T>A)
c.3610A>T (p.Lys1204Ter)
c.2734A>T (p.Lys912Ter)
c.2083A>T (p.Lys695Ter)
c.1687A>T (p.Lys563Ter)
c.1429A>T (p.Lys477Ter)
10g.75028597dupCA232608DUSP29,KAT6Bc.3773dup (p.Trp1259ValfsTer12)
c.3224dup (p.Trp1076ValfsTer12)
c.2897dup (p.Trp967ValfsTer12)
c.2708dup (p.Trp904ValfsTer12)
n.577-2002dup
c.*3622-2002dup (n.*3622-2002dup)
c.3611dup (p.Trp1205ValfsTer12)
c.2735dup (p.Trp913ValfsTer12)
c.2084dup (p.Trp696ValfsTer12)
c.1688dup (p.Trp564ValfsTer12)
c.1430dup (p.Trp478ValfsTer12)
 ClinVar dbSNP
10g.75028597A>CCA377291719DUSP29,KAT6Bc.3773A>C (p.Lys1258Thr)
c.3224A>C (p.Lys1075Thr)
c.2897A>C (p.Lys966Thr)
c.2708A>C (p.Lys903Thr)
n.577-2003T>G
c.*3622-2003T>G (n.*3622-2003T>G)
c.3611A>C (p.Lys1204Thr)
c.2735A>C (p.Lys912Thr)
c.2084A>C (p.Lys695Thr)
c.1688A>C (p.Lys563Thr)
c.1430A>C (p.Lys477Thr)
10g.75028597A>GCA377291723DUSP29,KAT6Bc.3773A>G (p.Lys1258Arg)
c.3224A>G (p.Lys1075Arg)
c.2897A>G (p.Lys966Arg)
c.2708A>G (p.Lys903Arg)
n.577-2003T>C
c.*3622-2003T>C (n.*3622-2003T>C)
c.3611A>G (p.Lys1204Arg)
c.2735A>G (p.Lys912Arg)
c.2084A>G (p.Lys695Arg)
c.1688A>G (p.Lys563Arg)
c.1430A>G (p.Lys477Arg)
10g.75028597A>TCA377291721DUSP29,KAT6Bc.3773A>T (p.Lys1258Met)
c.3224A>T (p.Lys1075Met)
c.2897A>T (p.Lys966Met)
c.2708A>T (p.Lys903Met)
n.577-2003T>A
c.*3622-2003T>A (n.*3622-2003T>A)
c.3611A>T (p.Lys1204Met)
c.2735A>T (p.Lys912Met)
c.2084A>T (p.Lys695Met)
c.1688A>T (p.Lys563Met)
c.1430A>T (p.Lys477Met)
10g.75028598G>ACA470299520DUSP29,KAT6Bc.3774G>A (p.Lys1258=)
c.3225G>A (p.Lys1075=)
c.2898G>A (p.Lys966=)
c.2709G>A (p.Lys903=)
n.577-2004C>T
c.*3622-2004C>T (n.*3622-2004C>T)
c.3612G>A (p.Lys1204=)
c.2736G>A (p.Lys912=)
c.2085G>A (p.Lys695=)
c.1689G>A (p.Lys563=)
c.1431G>A (p.Lys477=)
 gnomAD v4
10g.75028598G>CCA377291725DUSP29,KAT6Bc.3774G>C (p.Lys1258Asn)
c.3225G>C (p.Lys1075Asn)
c.2898G>C (p.Lys966Asn)
c.2709G>C (p.Lys903Asn)
n.577-2004C>G
c.*3622-2004C>G (n.*3622-2004C>G)
c.3612G>C (p.Lys1204Asn)
c.2736G>C (p.Lys912Asn)
c.2085G>C (p.Lys695Asn)
c.1689G>C (p.Lys563Asn)
c.1431G>C (p.Lys477Asn)
10g.75028598G>TCA377291727DUSP29,KAT6Bc.3774G>T (p.Lys1258Asn)
c.3225G>T (p.Lys1075Asn)
c.2898G>T (p.Lys966Asn)
c.2709G>T (p.Lys903Asn)
n.577-2004C>A
c.*3622-2004C>A (n.*3622-2004C>A)
c.3612G>T (p.Lys1204Asn)
c.2736G>T (p.Lys912Asn)
c.2085G>T (p.Lys695Asn)
c.1689G>T (p.Lys563Asn)
c.1431G>T (p.Lys477Asn)
10g.75028599T>ACA377291730DUSP29,KAT6Bc.3775T>A (p.Trp1259Arg)
c.3226T>A (p.Trp1076Arg)
c.2899T>A (p.Trp967Arg)
c.2710T>A (p.Trp904Arg)
n.577-2005A>T
c.*3622-2005A>T (n.*3622-2005A>T)
c.3613T>A (p.Trp1205Arg)
c.2737T>A (p.Trp913Arg)
c.2086T>A (p.Trp696Arg)
c.1690T>A (p.Trp564Arg)
c.1432T>A (p.Trp478Arg)
10g.75028599T>CCA377291732DUSP29,KAT6Bc.3775T>C (p.Trp1259Arg)
c.3226T>C (p.Trp1076Arg)
c.2899T>C (p.Trp967Arg)
c.2710T>C (p.Trp904Arg)
n.577-2005A>G
c.*3622-2005A>G (n.*3622-2005A>G)
c.3613T>C (p.Trp1205Arg)
c.2737T>C (p.Trp913Arg)
c.2086T>C (p.Trp696Arg)
c.1690T>C (p.Trp564Arg)
c.1432T>C (p.Trp478Arg)
 ClinVar
10g.75028599T>GCA377291734DUSP29,KAT6Bc.3775T>G (p.Trp1259Gly)
c.3226T>G (p.Trp1076Gly)
c.2899T>G (p.Trp967Gly)
c.2710T>G (p.Trp904Gly)
n.577-2005A>C
c.*3622-2005A>C (n.*3622-2005A>C)
c.3613T>G (p.Trp1205Gly)
c.2737T>G (p.Trp913Gly)
c.2086T>G (p.Trp696Gly)
c.1690T>G (p.Trp564Gly)
c.1432T>G (p.Trp478Gly)
10g.75028600G>ACA377291738DUSP29,KAT6Bc.3776G>A (p.Trp1259Ter)
c.3227G>A (p.Trp1076Ter)
c.2900G>A (p.Trp967Ter)
c.2711G>A (p.Trp904Ter)
n.577-2006C>T
c.*3622-2006C>T (n.*3622-2006C>T)
c.3614G>A (p.Trp1205Ter)
c.2738G>A (p.Trp913Ter)
c.2087G>A (p.Trp696Ter)
c.1691G>A (p.Trp564Ter)
c.1433G>A (p.Trp478Ter)
10g.75028600G>CCA377291739DUSP29,KAT6Bc.3776G>C (p.Trp1259Ser)
c.3227G>C (p.Trp1076Ser)
c.2900G>C (p.Trp967Ser)
c.2711G>C (p.Trp904Ser)
n.577-2006C>G
c.*3622-2006C>G (n.*3622-2006C>G)
c.3614G>C (p.Trp1205Ser)
c.2738G>C (p.Trp913Ser)
c.2087G>C (p.Trp696Ser)
c.1691G>C (p.Trp564Ser)
c.1433G>C (p.Trp478Ser)
10g.75028600G>TCA377291741DUSP29,KAT6Bc.3776G>T (p.Trp1259Leu)
c.3227G>T (p.Trp1076Leu)
c.2900G>T (p.Trp967Leu)
c.2711G>T (p.Trp904Leu)
n.577-2006C>A
c.*3622-2006C>A (n.*3622-2006C>A)
c.3614G>T (p.Trp1205Leu)
c.2738G>T (p.Trp913Leu)
c.2087G>T (p.Trp696Leu)
c.1691G>T (p.Trp564Leu)
c.1433G>T (p.Trp478Leu)
10g.75028601G>ACA377291743DUSP29,KAT6Bc.3777G>A (p.Trp1259Ter)
c.3228G>A (p.Trp1076Ter)
c.2901G>A (p.Trp967Ter)
c.2712G>A (p.Trp904Ter)
n.577-2007C>T
c.*3622-2007C>T (n.*3622-2007C>T)
c.3615G>A (p.Trp1205Ter)
c.2739G>A (p.Trp913Ter)
c.2088G>A (p.Trp696Ter)
c.1692G>A (p.Trp564Ter)
c.1434G>A (p.Trp478Ter)
10g.75028601G>CCA377291745DUSP29,KAT6Bc.3777G>C (p.Trp1259Cys)
c.3228G>C (p.Trp1076Cys)
c.2901G>C (p.Trp967Cys)
c.2712G>C (p.Trp904Cys)
n.577-2007C>G
c.*3622-2007C>G (n.*3622-2007C>G)
c.3615G>C (p.Trp1205Cys)
c.2739G>C (p.Trp913Cys)
c.2088G>C (p.Trp696Cys)
c.1692G>C (p.Trp564Cys)
c.1434G>C (p.Trp478Cys)
10g.75028601G>TCA377291747DUSP29,KAT6Bc.3777G>T (p.Trp1259Cys)
c.3228G>T (p.Trp1076Cys)
c.2901G>T (p.Trp967Cys)
c.2712G>T (p.Trp904Cys)
n.577-2007C>A
c.*3622-2007C>A (n.*3622-2007C>A)
c.3615G>T (p.Trp1205Cys)
c.2739G>T (p.Trp913Cys)
c.2088G>T (p.Trp696Cys)
c.1692G>T (p.Trp564Cys)
c.1434G>T (p.Trp478Cys)
 gnomAD v4
10g.75028602A>CCA470299521DUSP29,KAT6Bc.3778A>C (p.Arg1260=)
c.3229A>C (p.Arg1077=)
c.2902A>C (p.Arg968=)
c.2713A>C (p.Arg905=)
n.577-2008T>G
c.*3622-2008T>G (n.*3622-2008T>G)
c.3616A>C (p.Arg1206=)
c.2740A>C (p.Arg914=)
c.2089A>C (p.Arg697=)
c.1693A>C (p.Arg565=)
c.1435A>C (p.Arg479=)
10g.75028602A>GCA377291749DUSP29,KAT6Bc.3778A>G (p.Arg1260Gly)
c.3229A>G (p.Arg1077Gly)
c.2902A>G (p.Arg968Gly)
c.2713A>G (p.Arg905Gly)
n.577-2008T>C
c.*3622-2008T>C (n.*3622-2008T>C)
c.3616A>G (p.Arg1206Gly)
c.2740A>G (p.Arg914Gly)
c.2089A>G (p.Arg697Gly)
c.1693A>G (p.Arg565Gly)
c.1435A>G (p.Arg479Gly)
10g.75028602A>TCA377291751DUSP29,KAT6Bc.3778A>T (p.Arg1260Trp)
c.3229A>T (p.Arg1077Trp)
c.2902A>T (p.Arg968Trp)
c.2713A>T (p.Arg905Trp)
n.577-2008T>A
c.*3622-2008T>A (n.*3622-2008T>A)
c.3616A>T (p.Arg1206Trp)
c.2740A>T (p.Arg914Trp)
c.2089A>T (p.Arg697Trp)
c.1693A>T (p.Arg565Trp)
c.1435A>T (p.Arg479Trp)
10g.75028603G>ACA377291753DUSP29,KAT6Bc.3779G>A (p.Arg1260Lys)
c.3230G>A (p.Arg1077Lys)
c.2903G>A (p.Arg968Lys)
c.2714G>A (p.Arg905Lys)
n.577-2009C>T
c.*3622-2009C>T (n.*3622-2009C>T)
c.3617G>A (p.Arg1206Lys)
c.2741G>A (p.Arg914Lys)
c.2090G>A (p.Arg697Lys)
c.1694G>A (p.Arg565Lys)
c.1436G>A (p.Arg479Lys)
 gnomAD v4
10g.75028603G>CCA377291757DUSP29,KAT6Bc.3779G>C (p.Arg1260Thr)
c.3230G>C (p.Arg1077Thr)
c.2903G>C (p.Arg968Thr)
c.2714G>C (p.Arg905Thr)
n.577-2009C>G
c.*3622-2009C>G (n.*3622-2009C>G)
c.3617G>C (p.Arg1206Thr)
c.2741G>C (p.Arg914Thr)
c.2090G>C (p.Arg697Thr)
c.1694G>C (p.Arg565Thr)
c.1436G>C (p.Arg479Thr)
10g.75028603G>TCA377291755DUSP29,KAT6Bc.3779G>T (p.Arg1260Met)
c.3230G>T (p.Arg1077Met)
c.2903G>T (p.Arg968Met)
c.2714G>T (p.Arg905Met)
n.577-2009C>A
c.*3622-2009C>A (n.*3622-2009C>A)
c.3617G>T (p.Arg1206Met)
c.2741G>T (p.Arg914Met)
c.2090G>T (p.Arg697Met)
c.1694G>T (p.Arg565Met)
c.1436G>T (p.Arg479Met)
 gnomAD v4
10g.75028604G>ACA5564905DUSP29,KAT6Bc.3780G>A (p.Arg1260=)
c.3231G>A (p.Arg1077=)
c.2904G>A (p.Arg968=)
c.2715G>A (p.Arg905=)
n.577-2010C>T
c.*3622-2010C>T (n.*3622-2010C>T)
c.3618G>A (p.Arg1206=)
c.2742G>A (p.Arg914=)
c.2091G>A (p.Arg697=)
c.1695G>A (p.Arg565=)
c.1437G>A (p.Arg479=)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.75028604G>CCA377291760DUSP29,KAT6Bc.3780G>C (p.Arg1260Ser)
c.3231G>C (p.Arg1077Ser)
c.2904G>C (p.Arg968Ser)
c.2715G>C (p.Arg905Ser)
n.577-2010C>G
c.*3622-2010C>G (n.*3622-2010C>G)
c.3618G>C (p.Arg1206Ser)
c.2742G>C (p.Arg914Ser)
c.2091G>C (p.Arg697Ser)
c.1695G>C (p.Arg565Ser)
c.1437G>C (p.Arg479Ser)
10g.75028604G=CA1920306399DUSP29,KAT6Bc.3780G= (p.Arg1260=)
c.3231G= (p.Arg1077=)
c.2904G= (p.Arg968=)
c.2715G= (p.Arg905=)
n.577-2010C=
c.*3622-2010C= (n.*3622-2010C=)
c.3618G= (p.Arg1206=)
c.2742G= (p.Arg914=)
c.2091G= (p.Arg697=)
c.1695G= (p.Arg565=)
c.1437G= (p.Arg479=)
10g.75028604G>TCA377291762DUSP29,KAT6Bc.3780G>T (p.Arg1260Ser)
c.3231G>T (p.Arg1077Ser)
c.2904G>T (p.Arg968Ser)
c.2715G>T (p.Arg905Ser)
n.577-2010C>A
c.*3622-2010C>A (n.*3622-2010C>A)
c.3618G>T (p.Arg1206Ser)
c.2742G>T (p.Arg914Ser)
c.2091G>T (p.Arg697Ser)
c.1695G>T (p.Arg565Ser)
c.1437G>T (p.Arg479Ser)
10g.75028605C>ACA377291764DUSP29,KAT6Bc.3781C>A (p.Gln1261Lys)
c.3232C>A (p.Gln1078Lys)
c.2905C>A (p.Gln969Lys)
c.2716C>A (p.Gln906Lys)
n.577-2011G>T
c.*3622-2011G>T (n.*3622-2011G>T)
c.3619C>A (p.Gln1207Lys)
c.2743C>A (p.Gln915Lys)
c.2092C>A (p.Gln698Lys)
c.1696C>A (p.Gln566Lys)
c.1438C>A (p.Gln480Lys)
10g.75028605C>GCA377291765DUSP29,KAT6Bc.3781C>G (p.Gln1261Glu)
c.3232C>G (p.Gln1078Glu)
c.2905C>G (p.Gln969Glu)
c.2716C>G (p.Gln906Glu)
n.577-2011G>C
c.*3622-2011G>C (n.*3622-2011G>C)
c.3619C>G (p.Gln1207Glu)
c.2743C>G (p.Gln915Glu)
c.2092C>G (p.Gln698Glu)
c.1696C>G (p.Gln566Glu)
c.1438C>G (p.Gln480Glu)
10g.75028605C>TCA377291767DUSP29,KAT6Bc.3781C>T (p.Gln1261Ter)
c.3232C>T (p.Gln1078Ter)
c.2905C>T (p.Gln969Ter)
c.2716C>T (p.Gln906Ter)
n.577-2011G>A
c.*3622-2011G>A (n.*3622-2011G>A)
c.3619C>T (p.Gln1207Ter)
c.2743C>T (p.Gln915Ter)
c.2092C>T (p.Gln698Ter)
c.1696C>T (p.Gln566Ter)
c.1438C>T (p.Gln480Ter)
10g.75028606A>CCA377291770DUSP29,KAT6Bc.3782A>C (p.Gln1261Pro)
c.3233A>C (p.Gln1078Pro)
c.2906A>C (p.Gln969Pro)
c.2717A>C (p.Gln906Pro)
n.577-2012T>G
c.*3622-2012T>G (n.*3622-2012T>G)
c.3620A>C (p.Gln1207Pro)
c.2744A>C (p.Gln915Pro)
c.2093A>C (p.Gln698Pro)
c.1697A>C (p.Gln566Pro)
c.1439A>C (p.Gln480Pro)
10g.75028606A>GCA377291771DUSP29,KAT6Bc.3782A>G (p.Gln1261Arg)
c.3233A>G (p.Gln1078Arg)
c.2906A>G (p.Gln969Arg)
c.2717A>G (p.Gln906Arg)
n.577-2012T>C
c.*3622-2012T>C (n.*3622-2012T>C)
c.3620A>G (p.Gln1207Arg)
c.2744A>G (p.Gln915Arg)
c.2093A>G (p.Gln698Arg)
c.1697A>G (p.Gln566Arg)
c.1439A>G (p.Gln480Arg)
10g.75028606A>TCA377291774DUSP29,KAT6Bc.3782A>T (p.Gln1261Leu)
c.3233A>T (p.Gln1078Leu)
c.2906A>T (p.Gln969Leu)
c.2717A>T (p.Gln906Leu)
n.577-2012T>A
c.*3622-2012T>A (n.*3622-2012T>A)
c.3620A>T (p.Gln1207Leu)
c.2744A>T (p.Gln915Leu)
c.2093A>T (p.Gln698Leu)
c.1697A>T (p.Gln566Leu)
c.1439A>T (p.Gln480Leu)
10g.75028607A>CCA377291777DUSP29,KAT6Bc.3783A>C (p.Gln1261His)
c.3234A>C (p.Gln1078His)
c.2907A>C (p.Gln969His)
c.2718A>C (p.Gln906His)
n.577-2013T>G
c.*3622-2013T>G (n.*3622-2013T>G)
c.3621A>C (p.Gln1207His)
c.2745A>C (p.Gln915His)
c.2094A>C (p.Gln698His)
c.1698A>C (p.Gln566His)
c.1440A>C (p.Gln480His)
10g.75028607A>GCA470299522DUSP29,KAT6Bc.3783A>G (p.Gln1261=)
c.3234A>G (p.Gln1078=)
c.2907A>G (p.Gln969=)
c.2718A>G (p.Gln906=)
n.577-2013T>C
c.*3622-2013T>C (n.*3622-2013T>C)
c.3621A>G (p.Gln1207=)
c.2745A>G (p.Gln915=)
c.2094A>G (p.Gln698=)
c.1698A>G (p.Gln566=)
c.1440A>G (p.Gln480=)
10g.75028607A>TCA377291779DUSP29,KAT6Bc.3783A>T (p.Gln1261His)
c.3234A>T (p.Gln1078His)
c.2907A>T (p.Gln969His)
c.2718A>T (p.Gln906His)
n.577-2013T>A
c.*3622-2013T>A (n.*3622-2013T>A)
c.3621A>T (p.Gln1207His)
c.2745A>T (p.Gln915His)
c.2094A>T (p.Gln698His)
c.1698A>T (p.Gln566His)
c.1440A>T (p.Gln480His)
10g.75028608A>CCA377291785DUSP29,KAT6Bc.3784A>C (p.Asn1262His)
c.3235A>C (p.Asn1079His)
c.2908A>C (p.Asn970His)
c.2719A>C (p.Asn907His)
n.577-2014T>G
c.*3622-2014T>G (n.*3622-2014T>G)
c.3622A>C (p.Asn1208His)
c.2746A>C (p.Asn916His)
c.2095A>C (p.Asn699His)
c.1699A>C (p.Asn567His)
c.1441A>C (p.Asn481His)
10g.75028608A>GCA377291783DUSP29,KAT6Bc.3784A>G (p.Asn1262Asp)
c.3235A>G (p.Asn1079Asp)
c.2908A>G (p.Asn970Asp)
c.2719A>G (p.Asn907Asp)
n.577-2014T>C
c.*3622-2014T>C (n.*3622-2014T>C)
c.3622A>G (p.Asn1208Asp)
c.2746A>G (p.Asn916Asp)
c.2095A>G (p.Asn699Asp)
c.1699A>G (p.Asn567Asp)
c.1441A>G (p.Asn481Asp)
10g.75028608A>TCA377291780DUSP29,KAT6Bc.3784A>T (p.Asn1262Tyr)
c.3235A>T (p.Asn1079Tyr)
c.2908A>T (p.Asn970Tyr)
c.2719A>T (p.Asn907Tyr)
n.577-2014T>A
c.*3622-2014T>A (n.*3622-2014T>A)
c.3622A>T (p.Asn1208Tyr)
c.2746A>T (p.Asn916Tyr)
c.2095A>T (p.Asn699Tyr)
c.1699A>T (p.Asn567Tyr)
c.1441A>T (p.Asn481Tyr)
10g.75028609A>CCA377291788DUSP29,KAT6Bc.3785A>C (p.Asn1262Thr)
c.3236A>C (p.Asn1079Thr)
c.2909A>C (p.Asn970Thr)
c.2720A>C (p.Asn907Thr)
n.577-2015T>G
c.*3622-2015T>G (n.*3622-2015T>G)
c.3623A>C (p.Asn1208Thr)
c.2747A>C (p.Asn916Thr)
c.2096A>C (p.Asn699Thr)
c.1700A>C (p.Asn567Thr)
c.1442A>C (p.Asn481Thr)
10g.75028609A>GCA377291787DUSP29,KAT6Bc.3785A>G (p.Asn1262Ser)
c.3236A>G (p.Asn1079Ser)
c.2909A>G (p.Asn970Ser)
c.2720A>G (p.Asn907Ser)
n.577-2015T>C
c.*3622-2015T>C (n.*3622-2015T>C)
c.3623A>G (p.Asn1208Ser)
c.2747A>G (p.Asn916Ser)
c.2096A>G (p.Asn699Ser)
c.1700A>G (p.Asn567Ser)
c.1442A>G (p.Asn481Ser)
10g.75028609A>TCA377291790DUSP29,KAT6Bc.3785A>T (p.Asn1262Ile)
c.3236A>T (p.Asn1079Ile)
c.2909A>T (p.Asn970Ile)
c.2720A>T (p.Asn907Ile)
n.577-2015T>A
c.*3622-2015T>A (n.*3622-2015T>A)
c.3623A>T (p.Asn1208Ile)
c.2747A>T (p.Asn916Ile)
c.2096A>T (p.Asn699Ile)
c.1700A>T (p.Asn567Ile)
c.1442A>T (p.Asn481Ile)
10g.75028610C>ACA377291793DUSP29,KAT6Bc.3786C>A (p.Asn1262Lys)
c.3237C>A (p.Asn1079Lys)
c.2910C>A (p.Asn970Lys)
c.2721C>A (p.Asn907Lys)
n.577-2016G>T
c.*3622-2016G>T (n.*3622-2016G>T)
c.3624C>A (p.Asn1208Lys)
c.2748C>A (p.Asn916Lys)
c.2097C>A (p.Asn699Lys)
c.1701C>A (p.Asn567Lys)
c.1443C>A (p.Asn481Lys)
10g.75028610C>GCA377291794DUSP29,KAT6Bc.3786C>G (p.Asn1262Lys)
c.3237C>G (p.Asn1079Lys)
c.2910C>G (p.Asn970Lys)
c.2721C>G (p.Asn907Lys)
n.577-2016G>C
c.*3622-2016G>C (n.*3622-2016G>C)
c.3624C>G (p.Asn1208Lys)
c.2748C>G (p.Asn916Lys)
c.2097C>G (p.Asn699Lys)
c.1701C>G (p.Asn567Lys)
c.1443C>G (p.Asn481Lys)
10g.75028610C>TCA470299523DUSP29,KAT6Bc.3786C>T (p.Asn1262=)
c.3237C>T (p.Asn1079=)
c.2910C>T (p.Asn970=)
c.2721C>T (p.Asn907=)
n.577-2016G>A
c.*3622-2016G>A (n.*3622-2016G>A)
c.3624C>T (p.Asn1208=)
c.2748C>T (p.Asn916=)
c.2097C>T (p.Asn699=)
c.1701C>T (p.Asn567=)
c.1443C>T (p.Asn481=)
10g.75028610_75028612delinsCAACA1920306400DUSP29,KAT6Bc.3786_3788delinsCAA (p.Asn1262=)
c.3237_3239delinsCAA (p.Asn1079=)
c.2910_2912delinsCAA (p.Asn970=)
c.2721_2723delinsCAA (p.Asn907=)
n.577-2018_577-2016delinsTTG
c.*3622-2018_*3622-2016delinsTTG (n.*3622-2018_*3622-2016delinsTTG)
c.3624_3626delinsCAA (p.Asn1208=)
c.2748_2750delinsCAA (p.Asn916=)
c.2097_2099delinsCAA (p.Asn699=)
c.1701_1703delinsCAA (p.Asn567=)
c.1443_1445delinsCAA (p.Asn481=)
10g.75028611A>CCA377291796DUSP29,KAT6Bc.3787A>C (p.Lys1263Gln)
c.3238A>C (p.Lys1080Gln)
c.2911A>C (p.Lys971Gln)
c.2722A>C (p.Lys908Gln)
n.577-2017T>G
c.*3622-2017T>G (n.*3622-2017T>G)
c.3625A>C (p.Lys1209Gln)
c.2749A>C (p.Lys917Gln)
c.2098A>C (p.Lys700Gln)
c.1702A>C (p.Lys568Gln)
c.1444A>C (p.Lys482Gln)
10g.75028611A>GCA377291798DUSP29,KAT6Bc.3787A>G (p.Lys1263Glu)
c.3238A>G (p.Lys1080Glu)
c.2911A>G (p.Lys971Glu)
c.2722A>G (p.Lys908Glu)
n.577-2017T>C
c.*3622-2017T>C (n.*3622-2017T>C)
c.3625A>G (p.Lys1209Glu)
c.2749A>G (p.Lys917Glu)
c.2098A>G (p.Lys700Glu)
c.1702A>G (p.Lys568Glu)
c.1444A>G (p.Lys482Glu)
 gnomAD v4
10g.75028611A>TCA377291800DUSP29,KAT6Bc.3787A>T (p.Lys1263Ter)
c.3238A>T (p.Lys1080Ter)
c.2911A>T (p.Lys971Ter)
c.2722A>T (p.Lys908Ter)
n.577-2017T>A
c.*3622-2017T>A (n.*3622-2017T>A)
c.3625A>T (p.Lys1209Ter)
c.2749A>T (p.Lys917Ter)
c.2098A>T (p.Lys700Ter)
c.1702A>T (p.Lys568Ter)
c.1444A>T (p.Lys482Ter)
10g.75028612_75028613delCA129315DUSP29,KAT6Bc.3788_3789del (p.Lys1263ArgfsTer7)
c.3239_3240del (p.Lys1080ArgfsTer7)
c.2912_2913del (p.Lys971ArgfsTer7)
c.2723_2724del (p.Lys908ArgfsTer7)
n.577-2018_577-2017del
c.*3622-2018_*3622-2017del (n.*3622-2018_*3622-2017del)
c.3626_3627del (p.Lys1209ArgfsTer7)
c.2750_2751del (p.Lys917ArgfsTer7)
c.2099_2100del (p.Lys700ArgfsTer7)
c.1703_1704del (p.Lys568ArgfsTer7)
c.1445_1446del (p.Lys482ArgfsTer7)
 ClinVar dbSNP
10g.75028612A>CCA377291805DUSP29,KAT6Bc.3788A>C (p.Lys1263Thr)
c.3239A>C (p.Lys1080Thr)
c.2912A>C (p.Lys971Thr)
c.2723A>C (p.Lys908Thr)
n.577-2018T>G
c.*3622-2018T>G (n.*3622-2018T>G)
c.3626A>C (p.Lys1209Thr)
c.2750A>C (p.Lys917Thr)
c.2099A>C (p.Lys700Thr)
c.1703A>C (p.Lys568Thr)
c.1445A>C (p.Lys482Thr)
10g.75028612A>GCA377291804DUSP29,KAT6Bc.3788A>G (p.Lys1263Arg)
c.3239A>G (p.Lys1080Arg)
c.2912A>G (p.Lys971Arg)
c.2723A>G (p.Lys908Arg)
n.577-2018T>C
c.*3622-2018T>C (n.*3622-2018T>C)
c.3626A>G (p.Lys1209Arg)
c.2750A>G (p.Lys917Arg)
c.2099A>G (p.Lys700Arg)
c.1703A>G (p.Lys568Arg)
c.1445A>G (p.Lys482Arg)
10g.75028612A>TCA377291803DUSP29,KAT6Bc.3788A>T (p.Lys1263Ile)
c.3239A>T (p.Lys1080Ile)
c.2912A>T (p.Lys971Ile)
c.2723A>T (p.Lys908Ile)
n.577-2018T>A
c.*3622-2018T>A (n.*3622-2018T>A)
c.3626A>T (p.Lys1209Ile)
c.2750A>T (p.Lys917Ile)
c.2099A>T (p.Lys700Ile)
c.1703A>T (p.Lys568Ile)
c.1445A>T (p.Lys482Ile)
10g.75028613A>CCA377291806DUSP29,KAT6Bc.3789A>C (p.Lys1263Asn)
c.3240A>C (p.Lys1080Asn)
c.2913A>C (p.Lys971Asn)
c.2724A>C (p.Lys908Asn)
n.577-2019T>G
c.*3622-2019T>G (n.*3622-2019T>G)
c.3627A>C (p.Lys1209Asn)
c.2751A>C (p.Lys917Asn)
c.2100A>C (p.Lys700Asn)
c.1704A>C (p.Lys568Asn)
c.1446A>C (p.Lys482Asn)
10g.75028613A>GCA470299524DUSP29,KAT6Bc.3789A>G (p.Lys1263=)
c.3240A>G (p.Lys1080=)
c.2913A>G (p.Lys971=)
c.2724A>G (p.Lys908=)
n.577-2019T>C
c.*3622-2019T>C (n.*3622-2019T>C)
c.3627A>G (p.Lys1209=)
c.2751A>G (p.Lys917=)
c.2100A>G (p.Lys700=)
c.1704A>G (p.Lys568=)
c.1446A>G (p.Lys482=)
10g.75028613A>TCA377291809DUSP29,KAT6Bc.3789A>T (p.Lys1263Asn)
c.3240A>T (p.Lys1080Asn)
c.2913A>T (p.Lys971Asn)
c.2724A>T (p.Lys908Asn)
n.577-2019T>A
c.*3622-2019T>A (n.*3622-2019T>A)
c.3627A>T (p.Lys1209Asn)
c.2751A>T (p.Lys917Asn)
c.2100A>T (p.Lys700Asn)
c.1704A>T (p.Lys568Asn)
c.1446A>T (p.Lys482Asn)
10g.75028614G>ACA377291811DUSP29,KAT6Bc.3790G>A (p.Glu1264Lys)
c.3241G>A (p.Glu1081Lys)
c.2914G>A (p.Glu972Lys)
c.2725G>A (p.Glu909Lys)
n.577-2020C>T
c.*3622-2020C>T (n.*3622-2020C>T)
c.3628G>A (p.Glu1210Lys)
c.2752G>A (p.Glu918Lys)
c.2101G>A (p.Glu701Lys)
c.1705G>A (p.Glu569Lys)
c.1447G>A (p.Glu483Lys)
10g.75028614G>CCA209709081DUSP29,KAT6Bc.3790G>C (p.Glu1264Gln)
c.3241G>C (p.Glu1081Gln)
c.2914G>C (p.Glu972Gln)
c.2725G>C (p.Glu909Gln)
n.577-2020C>G
c.*3622-2020C>G (n.*3622-2020C>G)
c.3628G>C (p.Glu1210Gln)
c.2752G>C (p.Glu918Gln)
c.2101G>C (p.Glu701Gln)
c.1705G>C (p.Glu569Gln)
c.1447G>C (p.Glu483Gln)
 dbSNP gnomAD v4
10g.75028614G=CA1920306401DUSP29,KAT6Bc.3790G= (p.Glu1264=)
c.3241G= (p.Glu1081=)
c.2914G= (p.Glu972=)
c.2725G= (p.Glu909=)
n.577-2020C=
c.*3622-2020C= (n.*3622-2020C=)
c.3628G= (p.Glu1210=)
c.2752G= (p.Glu918=)
c.2101G= (p.Glu701=)
c.1705G= (p.Glu569=)
c.1447G= (p.Glu483=)
10g.75028614G>TCA377291814DUSP29,KAT6Bc.3790G>T (p.Glu1264Ter)
c.3241G>T (p.Glu1081Ter)
c.2914G>T (p.Glu972Ter)
c.2725G>T (p.Glu909Ter)
n.577-2020C>A
c.*3622-2020C>A (n.*3622-2020C>A)
c.3628G>T (p.Glu1210Ter)
c.2752G>T (p.Glu918Ter)
c.2101G>T (p.Glu701Ter)
c.1705G>T (p.Glu569Ter)
c.1447G>T (p.Glu483Ter)
10g.75028615A>CCA377291816DUSP29,KAT6Bc.3791A>C (p.Glu1264Ala)
c.3242A>C (p.Glu1081Ala)
c.2915A>C (p.Glu972Ala)
c.2726A>C (p.Glu909Ala)
n.577-2021T>G
c.*3622-2021T>G (n.*3622-2021T>G)
c.3629A>C (p.Glu1210Ala)
c.2753A>C (p.Glu918Ala)
c.2102A>C (p.Glu701Ala)
c.1706A>C (p.Glu569Ala)
c.1448A>C (p.Glu483Ala)
10g.75028615A>GCA377291820DUSP29,KAT6Bc.3791A>G (p.Glu1264Gly)
c.3242A>G (p.Glu1081Gly)
c.2915A>G (p.Glu972Gly)
c.2726A>G (p.Glu909Gly)
n.577-2021T>C
c.*3622-2021T>C (n.*3622-2021T>C)
c.3629A>G (p.Glu1210Gly)
c.2753A>G (p.Glu918Gly)
c.2102A>G (p.Glu701Gly)
c.1706A>G (p.Glu569Gly)
c.1448A>G (p.Glu483Gly)
10g.75028615A>TCA377291818DUSP29,KAT6Bc.3791A>T (p.Glu1264Val)
c.3242A>T (p.Glu1081Val)
c.2915A>T (p.Glu972Val)
c.2726A>T (p.Glu909Val)
n.577-2021T>A
c.*3622-2021T>A (n.*3622-2021T>A)
c.3629A>T (p.Glu1210Val)
c.2753A>T (p.Glu918Val)
c.2102A>T (p.Glu701Val)
c.1706A>T (p.Glu569Val)
c.1448A>T (p.Glu483Val)
 gnomAD v4
10g.75028616G>ACA470299525DUSP29,KAT6Bc.3792G>A (p.Glu1264=)
c.3243G>A (p.Glu1081=)
c.2916G>A (p.Glu972=)
c.2727G>A (p.Glu909=)
n.577-2022C>T
c.*3622-2022C>T (n.*3622-2022C>T)
c.3630G>A (p.Glu1210=)
c.2754G>A (p.Glu918=)
c.2103G>A (p.Glu701=)
c.1707G>A (p.Glu569=)
c.1449G>A (p.Glu483=)
10g.75028616G>CCA377291821DUSP29,KAT6Bc.3792G>C (p.Glu1264Asp)
c.3243G>C (p.Glu1081Asp)
c.2916G>C (p.Glu972Asp)
c.2727G>C (p.Glu909Asp)
n.577-2022C>G
c.*3622-2022C>G (n.*3622-2022C>G)
c.3630G>C (p.Glu1210Asp)
c.2754G>C (p.Glu918Asp)
c.2103G>C (p.Glu701Asp)
c.1707G>C (p.Glu569Asp)
c.1449G>C (p.Glu483Asp)
10g.75028616G>TCA377291823DUSP29,KAT6Bc.3792G>T (p.Glu1264Asp)
c.3243G>T (p.Glu1081Asp)
c.2916G>T (p.Glu972Asp)
c.2727G>T (p.Glu909Asp)
n.577-2022C>A
c.*3622-2022C>A (n.*3622-2022C>A)
c.3630G>T (p.Glu1210Asp)
c.2754G>T (p.Glu918Asp)
c.2103G>T (p.Glu701Asp)
c.1707G>T (p.Glu569Asp)
c.1449G>T (p.Glu483Asp)
10g.75028617A=CA1920306402DUSP29,KAT6Bc.3793A= (p.Arg1265=)
c.3244A= (p.Arg1082=)
c.2917A= (p.Arg973=)
c.2728A= (p.Arg910=)
n.577-2023T=
c.*3622-2023T= (n.*3622-2023T=)
c.3631A= (p.Arg1211=)
c.2755A= (p.Arg919=)
c.2104A= (p.Arg702=)
c.1708A= (p.Arg570=)
c.1450A= (p.Arg484=)
10g.75028617A>CCA470299526DUSP29,KAT6Bc.3793A>C (p.Arg1265=)
c.3244A>C (p.Arg1082=)
c.2917A>C (p.Arg973=)
c.2728A>C (p.Arg910=)
n.577-2023T>G
c.*3622-2023T>G (n.*3622-2023T>G)
c.3631A>C (p.Arg1211=)
c.2755A>C (p.Arg919=)
c.2104A>C (p.Arg702=)
c.1708A>C (p.Arg570=)
c.1450A>C (p.Arg484=)
10g.75028617A>GCA377291826DUSP29,KAT6Bc.3793A>G (p.Arg1265Gly)
c.3244A>G (p.Arg1082Gly)
c.2917A>G (p.Arg973Gly)
c.2728A>G (p.Arg910Gly)
n.577-2023T>C
c.*3622-2023T>C (n.*3622-2023T>C)
c.3631A>G (p.Arg1211Gly)
c.2755A>G (p.Arg919Gly)
c.2104A>G (p.Arg702Gly)
c.1708A>G (p.Arg570Gly)
c.1450A>G (p.Arg484Gly)
 dbSNP gnomAD v3 gnomAD v4
10g.75028617A>TCA377291827DUSP29,KAT6Bc.3793A>T (p.Arg1265Trp)
c.3244A>T (p.Arg1082Trp)
c.2917A>T (p.Arg973Trp)
c.2728A>T (p.Arg910Trp)
n.577-2023T>A
c.*3622-2023T>A (n.*3622-2023T>A)
c.3631A>T (p.Arg1211Trp)
c.2755A>T (p.Arg919Trp)
c.2104A>T (p.Arg702Trp)
c.1708A>T (p.Arg570Trp)
c.1450A>T (p.Arg484Trp)
10g.75028618G>ACA377291829DUSP29,KAT6Bc.3794G>A (p.Arg1265Lys)
c.3245G>A (p.Arg1082Lys)
c.2918G>A (p.Arg973Lys)
c.2729G>A (p.Arg910Lys)
n.577-2024C>T
c.*3622-2024C>T (n.*3622-2024C>T)
c.3632G>A (p.Arg1211Lys)
c.2756G>A (p.Arg919Lys)
c.2105G>A (p.Arg702Lys)
c.1709G>A (p.Arg570Lys)
c.1451G>A (p.Arg484Lys)
 gnomAD v4
10g.75028618G>CCA377291831DUSP29,KAT6Bc.3794G>C (p.Arg1265Thr)
c.3245G>C (p.Arg1082Thr)
c.2918G>C (p.Arg973Thr)
c.2729G>C (p.Arg910Thr)
n.577-2024C>G
c.*3622-2024C>G (n.*3622-2024C>G)
c.3632G>C (p.Arg1211Thr)
c.2756G>C (p.Arg919Thr)
c.2105G>C (p.Arg702Thr)
c.1709G>C (p.Arg570Thr)
c.1451G>C (p.Arg484Thr)
10g.75028618G>TCA377291835DUSP29,KAT6Bc.3794G>T (p.Arg1265Met)
c.3245G>T (p.Arg1082Met)
c.2918G>T (p.Arg973Met)
c.2729G>T (p.Arg910Met)
n.577-2024C>A
c.*3622-2024C>A (n.*3622-2024C>A)
c.3632G>T (p.Arg1211Met)
c.2756G>T (p.Arg919Met)
c.2105G>T (p.Arg702Met)
c.1709G>T (p.Arg570Met)
c.1451G>T (p.Arg484Met)
10g.75028619G>ACA5564906DUSP29,KAT6Bc.3795G>A (p.Arg1265=)
c.3246G>A (p.Arg1082=)
c.2919G>A (p.Arg973=)
c.2730G>A (p.Arg910=)
n.577-2025C>T
c.*3622-2025C>T (n.*3622-2025C>T)
c.3633G>A (p.Arg1211=)
c.2757G>A (p.Arg919=)
c.2106G>A (p.Arg702=)
c.1710G>A (p.Arg570=)
c.1452G>A (p.Arg484=)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.75028619G>CCA377291840DUSP29,KAT6Bc.3795G>C (p.Arg1265Ser)
c.3246G>C (p.Arg1082Ser)
c.2919G>C (p.Arg973Ser)
c.2730G>C (p.Arg910Ser)
n.577-2025C>G
c.*3622-2025C>G (n.*3622-2025C>G)
c.3633G>C (p.Arg1211Ser)
c.2757G>C (p.Arg919Ser)
c.2106G>C (p.Arg702Ser)
c.1710G>C (p.Arg570Ser)
c.1452G>C (p.Arg484Ser)
10g.75028619G=CA1920306403DUSP29,KAT6Bc.3795G= (p.Arg1265=)
c.3246G= (p.Arg1082=)
c.2919G= (p.Arg973=)
c.2730G= (p.Arg910=)
n.577-2025C=
c.*3622-2025C= (n.*3622-2025C=)
c.3633G= (p.Arg1211=)
c.2757G= (p.Arg919=)
c.2106G= (p.Arg702=)
c.1710G= (p.Arg570=)
c.1452G= (p.Arg484=)
10g.75028619G>TCA377291843DUSP29,KAT6Bc.3795G>T (p.Arg1265Ser)
c.3246G>T (p.Arg1082Ser)
c.2919G>T (p.Arg973Ser)
c.2730G>T (p.Arg910Ser)
n.577-2025C>A
c.*3622-2025C>A (n.*3622-2025C>A)
c.3633G>T (p.Arg1211Ser)
c.2757G>T (p.Arg919Ser)
c.2106G>T (p.Arg702Ser)
c.1710G>T (p.Arg570Ser)
c.1452G>T (p.Arg484Ser)
10g.75028620A=CA1920306404DUSP29,KAT6Bc.3796A= (p.Lys1266=)
c.3247A= (p.Lys1083=)
c.2920A= (p.Lys974=)
c.2731A= (p.Lys911=)
n.577-2026T=
c.*3622-2026T= (n.*3622-2026T=)
c.3634A= (p.Lys1212=)
c.2758A= (p.Lys920=)
c.2107A= (p.Lys703=)
c.1711A= (p.Lys571=)
c.1453A= (p.Lys485=)
10g.75028620A>CCA377291851DUSP29,KAT6Bc.3796A>C (p.Lys1266Gln)
c.3247A>C (p.Lys1083Gln)
c.2920A>C (p.Lys974Gln)
c.2731A>C (p.Lys911Gln)
n.577-2026T>G
c.*3622-2026T>G (n.*3622-2026T>G)
c.3634A>C (p.Lys1212Gln)
c.2758A>C (p.Lys920Gln)
c.2107A>C (p.Lys703Gln)
c.1711A>C (p.Lys571Gln)
c.1453A>C (p.Lys485Gln)
10g.75028620A>GCA5564907DUSP29,KAT6Bc.3796A>G (p.Lys1266Glu)
c.3247A>G (p.Lys1083Glu)
c.2920A>G (p.Lys974Glu)
c.2731A>G (p.Lys911Glu)
n.577-2026T>C
c.*3622-2026T>C (n.*3622-2026T>C)
c.3634A>G (p.Lys1212Glu)
c.2758A>G (p.Lys920Glu)
c.2107A>G (p.Lys703Glu)
c.1711A>G (p.Lys571Glu)
c.1453A>G (p.Lys485Glu)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.75028620A>TCA377291846DUSP29,KAT6Bc.3796A>T (p.Lys1266Ter)
c.3247A>T (p.Lys1083Ter)
c.2920A>T (p.Lys974Ter)
c.2731A>T (p.Lys911Ter)
n.577-2026T>A
c.*3622-2026T>A (n.*3622-2026T>A)
c.3634A>T (p.Lys1212Ter)
c.2758A>T (p.Lys920Ter)
c.2107A>T (p.Lys703Ter)
c.1711A>T (p.Lys571Ter)
c.1453A>T (p.Lys485Ter)
10g.75028621A>CCA377291856DUSP29,KAT6Bc.3797A>C (p.Lys1266Thr)
c.3248A>C (p.Lys1083Thr)
c.2921A>C (p.Lys974Thr)
c.2732A>C (p.Lys911Thr)
n.577-2027T>G
c.*3622-2027T>G (n.*3622-2027T>G)
c.3635A>C (p.Lys1212Thr)
c.2759A>C (p.Lys920Thr)
c.2108A>C (p.Lys703Thr)
c.1712A>C (p.Lys571Thr)
c.1454A>C (p.Lys485Thr)
10g.75028621A>GCA377291861DUSP29,KAT6Bc.3797A>G (p.Lys1266Arg)
c.3248A>G (p.Lys1083Arg)
c.2921A>G (p.Lys974Arg)
c.2732A>G (p.Lys911Arg)
n.577-2027T>C
c.*3622-2027T>C (n.*3622-2027T>C)
c.3635A>G (p.Lys1212Arg)
c.2759A>G (p.Lys920Arg)
c.2108A>G (p.Lys703Arg)
c.1712A>G (p.Lys571Arg)
c.1454A>G (p.Lys485Arg)
 gnomAD v4
10g.75028621A>TCA377291864DUSP29,KAT6Bc.3797A>T (p.Lys1266Met)
c.3248A>T (p.Lys1083Met)
c.2921A>T (p.Lys974Met)
c.2732A>T (p.Lys911Met)
n.577-2027T>A
c.*3622-2027T>A (n.*3622-2027T>A)
c.3635A>T (p.Lys1212Met)
c.2759A>T (p.Lys920Met)
c.2108A>T (p.Lys703Met)
c.1712A>T (p.Lys571Met)
c.1454A>T (p.Lys485Met)
10g.75028622G>ACA470299527DUSP29,KAT6Bc.3798G>A (p.Lys1266=)
c.3249G>A (p.Lys1083=)
c.2922G>A (p.Lys974=)
c.2733G>A (p.Lys911=)
n.577-2028C>T
c.*3622-2028C>T (n.*3622-2028C>T)
c.3636G>A (p.Lys1212=)
c.2760G>A (p.Lys920=)
c.2109G>A (p.Lys703=)
c.1713G>A (p.Lys571=)
c.1455G>A (p.Lys485=)
10g.75028622G>CCA377291868DUSP29,KAT6Bc.3798G>C (p.Lys1266Asn)
c.3249G>C (p.Lys1083Asn)
c.2922G>C (p.Lys974Asn)
c.2733G>C (p.Lys911Asn)
n.577-2028C>G
c.*3622-2028C>G (n.*3622-2028C>G)
c.3636G>C (p.Lys1212Asn)
c.2760G>C (p.Lys920Asn)
c.2109G>C (p.Lys703Asn)
c.1713G>C (p.Lys571Asn)
c.1455G>C (p.Lys485Asn)
 COSMIC
10g.75028622G>TCA377291871DUSP29,KAT6Bc.3798G>T (p.Lys1266Asn)
c.3249G>T (p.Lys1083Asn)
c.2922G>T (p.Lys974Asn)
c.2733G>T (p.Lys911Asn)
n.577-2028C>A
c.*3622-2028C>A (n.*3622-2028C>A)
c.3636G>T (p.Lys1212Asn)
c.2760G>T (p.Lys920Asn)
c.2109G>T (p.Lys703Asn)
c.1713G>T (p.Lys571Asn)
c.1455G>T (p.Lys485Asn)
10g.75028623A>CCA377291874DUSP29,KAT6Bc.3799A>C (p.Thr1267Pro)
c.3250A>C (p.Thr1084Pro)
c.2923A>C (p.Thr975Pro)
c.2734A>C (p.Thr912Pro)
n.577-2029T>G
c.*3622-2029T>G (n.*3622-2029T>G)
c.3637A>C (p.Thr1213Pro)
c.2761A>C (p.Thr921Pro)
c.2110A>C (p.Thr704Pro)
c.1714A>C (p.Thr572Pro)
c.1456A>C (p.Thr486Pro)
10g.75028623A>GCA377291878DUSP29,KAT6Bc.3799A>G (p.Thr1267Ala)
c.3250A>G (p.Thr1084Ala)
c.2923A>G (p.Thr975Ala)
c.2734A>G (p.Thr912Ala)
n.577-2029T>C
c.*3622-2029T>C (n.*3622-2029T>C)
c.3637A>G (p.Thr1213Ala)
c.2761A>G (p.Thr921Ala)
c.2110A>G (p.Thr704Ala)
c.1714A>G (p.Thr572Ala)
c.1456A>G (p.Thr486Ala)
10g.75028623A>TCA377291881DUSP29,KAT6Bc.3799A>T (p.Thr1267Ser)
c.3250A>T (p.Thr1084Ser)
c.2923A>T (p.Thr975Ser)
c.2734A>T (p.Thr912Ser)
n.577-2029T>A
c.*3622-2029T>A (n.*3622-2029T>A)
c.3637A>T (p.Thr1213Ser)
c.2761A>T (p.Thr921Ser)
c.2110A>T (p.Thr704Ser)
c.1714A>T (p.Thr572Ser)
c.1456A>T (p.Thr486Ser)
 gnomAD v4
10g.75028624C>ACA377291885DUSP29,KAT6Bc.3800C>A (p.Thr1267Asn)
c.3251C>A (p.Thr1084Asn)
c.2924C>A (p.Thr975Asn)
c.2735C>A (p.Thr912Asn)
n.577-2030G>T
c.*3622-2030G>T (n.*3622-2030G>T)
c.3638C>A (p.Thr1213Asn)
c.2762C>A (p.Thr921Asn)
c.2111C>A (p.Thr704Asn)
c.1715C>A (p.Thr572Asn)
c.1457C>A (p.Thr486Asn)
10g.75028624C=CA1920306405DUSP29,KAT6Bc.3800C= (p.Thr1267=)
c.3251C= (p.Thr1084=)
c.2924C= (p.Thr975=)
c.2735C= (p.Thr912=)
n.577-2030G=
c.*3622-2030G= (n.*3622-2030G=)
c.3638C= (p.Thr1213=)
c.2762C= (p.Thr921=)
c.2111C= (p.Thr704=)
c.1715C= (p.Thr572=)
c.1457C= (p.Thr486=)
10g.75028624C>GCA209709106DUSP29,KAT6Bc.3800C>G (p.Thr1267Ser)
c.3251C>G (p.Thr1084Ser)
c.2924C>G (p.Thr975Ser)
c.2735C>G (p.Thr912Ser)
n.577-2030G>C
c.*3622-2030G>C (n.*3622-2030G>C)
c.3638C>G (p.Thr1213Ser)
c.2762C>G (p.Thr921Ser)
c.2111C>G (p.Thr704Ser)
c.1715C>G (p.Thr572Ser)
c.1457C>G (p.Thr486Ser)
 dbSNP gnomAD v3 gnomAD v4
10g.75028624C>TCA377291891DUSP29,KAT6Bc.3800C>T (p.Thr1267Ile)
c.3251C>T (p.Thr1084Ile)
c.2924C>T (p.Thr975Ile)
c.2735C>T (p.Thr912Ile)
n.577-2030G>A
c.*3622-2030G>A (n.*3622-2030G>A)
c.3638C>T (p.Thr1213Ile)
c.2762C>T (p.Thr921Ile)
c.2111C>T (p.Thr704Ile)
c.1715C>T (p.Thr572Ile)
c.1457C>T (p.Thr486Ile)
10g.75028625C>ACA470299528DUSP29,KAT6Bc.3801C>A (p.Thr1267=)
c.3252C>A (p.Thr1084=)
c.2925C>A (p.Thr975=)
c.2736C>A (p.Thr912=)
n.577-2031G>T
c.*3622-2031G>T (n.*3622-2031G>T)
c.3639C>A (p.Thr1213=)
c.2763C>A (p.Thr921=)
c.2112C>A (p.Thr704=)
c.1716C>A (p.Thr572=)
c.1458C>A (p.Thr486=)
10g.75028625C=CA1920306406DUSP29,KAT6Bc.3801C= (p.Thr1267=)
c.3252C= (p.Thr1084=)
c.2925C= (p.Thr975=)
c.2736C= (p.Thr912=)
n.577-2031G=
c.*3622-2031G= (n.*3622-2031G=)
c.3639C= (p.Thr1213=)
c.2763C= (p.Thr921=)
c.2112C= (p.Thr704=)
c.1716C= (p.Thr572=)
c.1458C= (p.Thr486=)
10g.75028625C>GCA470299529DUSP29,KAT6Bc.3801C>G (p.Thr1267=)
c.3252C>G (p.Thr1084=)
c.2925C>G (p.Thr975=)
c.2736C>G (p.Thr912=)
n.577-2031G>C
c.*3622-2031G>C (n.*3622-2031G>C)
c.3639C>G (p.Thr1213=)
c.2763C>G (p.Thr921=)
c.2112C>G (p.Thr704=)
c.1716C>G (p.Thr572=)
c.1458C>G (p.Thr486=)
 dbSNP gnomAD v4
10g.75028625C>TCA5564908DUSP29,KAT6Bc.3801C>T (p.Thr1267=)
c.3252C>T (p.Thr1084=)
c.2925C>T (p.Thr975=)
c.2736C>T (p.Thr912=)
n.577-2031G>A
c.*3622-2031G>A (n.*3622-2031G>A)
c.3639C>T (p.Thr1213=)
c.2763C>T (p.Thr921=)
c.2112C>T (p.Thr704=)
c.1716C>T (p.Thr572=)
c.1458C>T (p.Thr486=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.75028626G>ACA5564909DUSP29,KAT6Bc.3802G>A (p.Gly1268Arg)
c.3253G>A (p.Gly1085Arg)
c.2926G>A (p.Gly976Arg)
c.2737G>A (p.Gly913Arg)
n.577-2032C>T
c.*3622-2032C>T (n.*3622-2032C>T)
c.3640G>A (p.Gly1214Arg)
c.2764G>A (p.Gly922Arg)
c.2113G>A (p.Gly705Arg)
c.1717G>A (p.Gly573Arg)
c.1459G>A (p.Gly487Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.75028626G>CCA377291900DUSP29,KAT6Bc.3802G>C (p.Gly1268Arg)
c.3253G>C (p.Gly1085Arg)
c.2926G>C (p.Gly976Arg)
c.2737G>C (p.Gly913Arg)
n.577-2032C>G
c.*3622-2032C>G (n.*3622-2032C>G)
c.3640G>C (p.Gly1214Arg)
c.2764G>C (p.Gly922Arg)
c.2113G>C (p.Gly705Arg)
c.1717G>C (p.Gly573Arg)
c.1459G>C (p.Gly487Arg)
10g.75028626G=CA1920306407DUSP29,KAT6Bc.3802G= (p.Gly1268=)
c.3253G= (p.Gly1085=)
c.2926G= (p.Gly976=)
c.2737G= (p.Gly913=)
n.577-2032C=
c.*3622-2032C= (n.*3622-2032C=)
c.3640G= (p.Gly1214=)
c.2764G= (p.Gly922=)
c.2113G= (p.Gly705=)
c.1717G= (p.Gly573=)
c.1459G= (p.Gly487=)
10g.75028626G>TCA129318DUSP29,KAT6Bc.3802G>T (p.Gly1268Ter)
c.3253G>T (p.Gly1085Ter)
c.2926G>T (p.Gly976Ter)
c.2737G>T (p.Gly913Ter)
n.577-2032C>A
c.*3622-2032C>A (n.*3622-2032C>A)
c.3640G>T (p.Gly1214Ter)
c.2764G>T (p.Gly922Ter)
c.2113G>T (p.Gly705Ter)
c.1717G>T (p.Gly573Ter)
c.1459G>T (p.Gly487Ter)
 ClinVar dbSNP
10g.75028627G>ACA377291905DUSP29,KAT6Bc.3803G>A (p.Gly1268Glu)
c.3254G>A (p.Gly1085Glu)
c.2927G>A (p.Gly976Glu)
c.2738G>A (p.Gly913Glu)
n.577-2033C>T
c.*3622-2033C>T (n.*3622-2033C>T)
c.3641G>A (p.Gly1214Glu)
c.2765G>A (p.Gly922Glu)
c.2114G>A (p.Gly705Glu)
c.1718G>A (p.Gly573Glu)
c.1460G>A (p.Gly487Glu)
 gnomAD v4
10g.75028627G>CCA377291907DUSP29,KAT6Bc.3803G>C (p.Gly1268Ala)
c.3254G>C (p.Gly1085Ala)
c.2927G>C (p.Gly976Ala)
c.2738G>C (p.Gly913Ala)
n.577-2033C>G
c.*3622-2033C>G (n.*3622-2033C>G)
c.3641G>C (p.Gly1214Ala)
c.2765G>C (p.Gly922Ala)
c.2114G>C (p.Gly705Ala)
c.1718G>C (p.Gly573Ala)
c.1460G>C (p.Gly487Ala)
 COSMIC
10g.75028627G>TCA377291916DUSP29,KAT6Bc.3803G>T (p.Gly1268Val)
c.3254G>T (p.Gly1085Val)
c.2927G>T (p.Gly976Val)
c.2738G>T (p.Gly913Val)
n.577-2033C>A
c.*3622-2033C>A (n.*3622-2033C>A)
c.3641G>T (p.Gly1214Val)
c.2765G>T (p.Gly922Val)
c.2114G>T (p.Gly705Val)
c.1718G>T (p.Gly573Val)
c.1460G>T (p.Gly487Val)
10g.75028628A>CCA470299530DUSP29,KAT6Bc.3804A>C (p.Gly1268=)
c.3255A>C (p.Gly1085=)
c.2928A>C (p.Gly976=)
c.2739A>C (p.Gly913=)
n.577-2034T>G
c.*3622-2034T>G (n.*3622-2034T>G)
c.3642A>C (p.Gly1214=)
c.2766A>C (p.Gly922=)
c.2115A>C (p.Gly705=)
c.1719A>C (p.Gly573=)
c.1461A>C (p.Gly487=)
10g.75028628A>GCA470299531DUSP29,KAT6Bc.3804A>G (p.Gly1268=)
c.3255A>G (p.Gly1085=)
c.2928A>G (p.Gly976=)
c.2739A>G (p.Gly913=)
n.577-2034T>C
c.*3622-2034T>C (n.*3622-2034T>C)
c.3642A>G (p.Gly1214=)
c.2766A>G (p.Gly922=)
c.2115A>G (p.Gly705=)
c.1719A>G (p.Gly573=)
c.1461A>G (p.Gly487=)
10g.75028628A>TCA470299532DUSP29,KAT6Bc.3804A>T (p.Gly1268=)
c.3255A>T (p.Gly1085=)
c.2928A>T (p.Gly976=)
c.2739A>T (p.Gly913=)
n.577-2034T>A
c.*3622-2034T>A (n.*3622-2034T>A)
c.3642A>T (p.Gly1214=)
c.2766A>T (p.Gly922=)
c.2115A>T (p.Gly705=)
c.1719A>T (p.Gly573=)
c.1461A>T (p.Gly487=)
10g.75028629T>ACA377291919DUSP29,KAT6Bc.3805T>A (p.Phe1269Ile)
c.3256T>A (p.Phe1086Ile)
c.2929T>A (p.Phe977Ile)
c.2740T>A (p.Phe914Ile)
n.577-2035A>T
c.*3622-2035A>T (n.*3622-2035A>T)
c.3643T>A (p.Phe1215Ile)
c.2767T>A (p.Phe923Ile)
c.2116T>A (p.Phe706Ile)
c.1720T>A (p.Phe574Ile)
c.1462T>A (p.Phe488Ile)
10g.75028629T>CCA377291922DUSP29,KAT6Bc.3805T>C (p.Phe1269Leu)
c.3256T>C (p.Phe1086Leu)
c.2929T>C (p.Phe977Leu)
c.2740T>C (p.Phe914Leu)
n.577-2035A>G
c.*3622-2035A>G (n.*3622-2035A>G)
c.3643T>C (p.Phe1215Leu)
c.2767T>C (p.Phe923Leu)
c.2116T>C (p.Phe706Leu)
c.1720T>C (p.Phe574Leu)
c.1462T>C (p.Phe488Leu)
 gnomAD v4
10g.75028629T>GCA5564910DUSP29,KAT6Bc.3805T>G (p.Phe1269Val)
c.3256T>G (p.Phe1086Val)
c.2929T>G (p.Phe977Val)
c.2740T>G (p.Phe914Val)
n.577-2035A>C
c.*3622-2035A>C (n.*3622-2035A>C)
c.3643T>G (p.Phe1215Val)
c.2767T>G (p.Phe923Val)
c.2116T>G (p.Phe706Val)
c.1720T>G (p.Phe574Val)
c.1462T>G (p.Phe488Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.75028629T=CA1920306408DUSP29,KAT6Bc.3805T= (p.Phe1269=)
c.3256T= (p.Phe1086=)
c.2929T= (p.Phe977=)
c.2740T= (p.Phe914=)
n.577-2035A=
c.*3622-2035A= (n.*3622-2035A=)
c.3643T= (p.Phe1215=)
c.2767T= (p.Phe923=)
c.2116T= (p.Phe706=)
c.1720T= (p.Phe574=)
c.1462T= (p.Phe488=)
10g.75028630T>ACA377291928DUSP29,KAT6Bc.3806T>A (p.Phe1269Tyr)
c.3257T>A (p.Phe1086Tyr)
c.2930T>A (p.Phe977Tyr)
c.2741T>A (p.Phe914Tyr)
n.577-2036A>T
c.*3622-2036A>T (n.*3622-2036A>T)
c.3644T>A (p.Phe1215Tyr)
c.2768T>A (p.Phe923Tyr)
c.2117T>A (p.Phe706Tyr)
c.1721T>A (p.Phe574Tyr)
c.1463T>A (p.Phe488Tyr)
10g.75028630T>CCA377291934DUSP29,KAT6Bc.3806T>C (p.Phe1269Ser)
c.3257T>C (p.Phe1086Ser)
c.2930T>C (p.Phe977Ser)
c.2741T>C (p.Phe914Ser)
n.577-2036A>G
c.*3622-2036A>G (n.*3622-2036A>G)
c.3644T>C (p.Phe1215Ser)
c.2768T>C (p.Phe923Ser)
c.2117T>C (p.Phe706Ser)
c.1721T>C (p.Phe574Ser)
c.1463T>C (p.Phe488Ser)
10g.75028630T>GCA377291931DUSP29,KAT6Bc.3806T>G (p.Phe1269Cys)
c.3257T>G (p.Phe1086Cys)
c.2930T>G (p.Phe977Cys)
c.2741T>G (p.Phe914Cys)
n.577-2036A>C
c.*3622-2036A>C (n.*3622-2036A>C)
c.3644T>G (p.Phe1215Cys)
c.2768T>G (p.Phe923Cys)
c.2117T>G (p.Phe706Cys)
c.1721T>G (p.Phe574Cys)
c.1463T>G (p.Phe488Cys)
10g.75028631T>ACA377291938DUSP29,KAT6Bc.3807T>A (p.Phe1269Leu)
c.3258T>A (p.Phe1086Leu)
c.2931T>A (p.Phe977Leu)
c.2742T>A (p.Phe914Leu)
n.577-2037A>T
c.*3622-2037A>T (n.*3622-2037A>T)
c.3645T>A (p.Phe1215Leu)
c.2769T>A (p.Phe923Leu)
c.2118T>A (p.Phe706Leu)
c.1722T>A (p.Phe574Leu)
c.1464T>A (p.Phe488Leu)
10g.75028631T>CCA470299533DUSP29,KAT6Bc.3807T>C (p.Phe1269=)
c.3258T>C (p.Phe1086=)
c.2931T>C (p.Phe977=)
c.2742T>C (p.Phe914=)
n.577-2037A>G
c.*3622-2037A>G (n.*3622-2037A>G)
c.3645T>C (p.Phe1215=)
c.2769T>C (p.Phe923=)
c.2118T>C (p.Phe706=)
c.1722T>C (p.Phe574=)
c.1464T>C (p.Phe488=)
 dbSNP
10g.75028631T>GCA377291940DUSP29,KAT6Bc.3807T>G (p.Phe1269Leu)
c.3258T>G (p.Phe1086Leu)
c.2931T>G (p.Phe977Leu)
c.2742T>G (p.Phe914Leu)
n.577-2037A>C
c.*3622-2037A>C (n.*3622-2037A>C)
c.3645T>G (p.Phe1215Leu)
c.2769T>G (p.Phe923Leu)
c.2118T>G (p.Phe706Leu)
c.1722T>G (p.Phe574Leu)
c.1464T>G (p.Phe488Leu)
10g.75028632A>CCA377291943DUSP29,KAT6Bc.3808A>C (p.Lys1270Gln)
c.3259A>C (p.Lys1087Gln)
c.2932A>C (p.Lys978Gln)
c.2743A>C (p.Lys915Gln)
n.577-2038T>G
c.*3622-2038T>G (n.*3622-2038T>G)
c.3646A>C (p.Lys1216Gln)
c.2770A>C (p.Lys924Gln)
c.2119A>C (p.Lys707Gln)
c.1723A>C (p.Lys575Gln)
c.1465A>C (p.Lys489Gln)
10g.75028632A>GCA377291945DUSP29,KAT6Bc.3808A>G (p.Lys1270Glu)
c.3259A>G (p.Lys1087Glu)
c.2932A>G (p.Lys978Glu)
c.2743A>G (p.Lys915Glu)
n.577-2038T>C
c.*3622-2038T>C (n.*3622-2038T>C)
c.3646A>G (p.Lys1216Glu)
c.2770A>G (p.Lys924Glu)
c.2119A>G (p.Lys707Glu)
c.1723A>G (p.Lys575Glu)
c.1465A>G (p.Lys489Glu)
10g.75028632A>TCA377291947DUSP29,KAT6Bc.3808A>T (p.Lys1270Ter)
c.3259A>T (p.Lys1087Ter)
c.2932A>T (p.Lys978Ter)
c.2743A>T (p.Lys915Ter)
n.577-2038T>A
c.*3622-2038T>A (n.*3622-2038T>A)
c.3646A>T (p.Lys1216Ter)
c.2770A>T (p.Lys924Ter)
c.2119A>T (p.Lys707Ter)
c.1723A>T (p.Lys575Ter)
c.1465A>T (p.Lys489Ter)
10g.75028633A>CCA377291957DUSP29,KAT6Bc.3809A>C (p.Lys1270Thr)
c.3260A>C (p.Lys1087Thr)
c.2933A>C (p.Lys978Thr)
c.2744A>C (p.Lys915Thr)
n.577-2039T>G
c.*3622-2039T>G (n.*3622-2039T>G)
c.3647A>C (p.Lys1216Thr)
c.2771A>C (p.Lys924Thr)
c.2120A>C (p.Lys707Thr)
c.1724A>C (p.Lys575Thr)
c.1466A>C (p.Lys489Thr)
10g.75028633A>GCA377291954DUSP29,KAT6Bc.3809A>G (p.Lys1270Arg)
c.3260A>G (p.Lys1087Arg)
c.2933A>G (p.Lys978Arg)
c.2744A>G (p.Lys915Arg)
n.577-2039T>C
c.*3622-2039T>C (n.*3622-2039T>C)
c.3647A>G (p.Lys1216Arg)
c.2771A>G (p.Lys924Arg)
c.2120A>G (p.Lys707Arg)
c.1724A>G (p.Lys575Arg)
c.1466A>G (p.Lys489Arg)
10g.75028633A>TCA377291953DUSP29,KAT6Bc.3809A>T (p.Lys1270Ile)
c.3260A>T (p.Lys1087Ile)
c.2933A>T (p.Lys978Ile)
c.2744A>T (p.Lys915Ile)
n.577-2039T>A
c.*3622-2039T>A (n.*3622-2039T>A)
c.3647A>T (p.Lys1216Ile)
c.2771A>T (p.Lys924Ile)
c.2120A>T (p.Lys707Ile)
c.1724A>T (p.Lys575Ile)
c.1466A>T (p.Lys489Ile)
10g.75028634A>CCA377291960DUSP29,KAT6Bc.3810A>C (p.Lys1270Asn)
c.3261A>C (p.Lys1087Asn)
c.2934A>C (p.Lys978Asn)
c.2745A>C (p.Lys915Asn)
n.577-2040T>G
c.*3622-2040T>G (n.*3622-2040T>G)
c.3648A>C (p.Lys1216Asn)
c.2772A>C (p.Lys924Asn)
c.2121A>C (p.Lys707Asn)
c.1725A>C (p.Lys575Asn)
c.1467A>C (p.Lys489Asn)
10g.75028634A>GCA470299539DUSP29,KAT6Bc.3810A>G (p.Lys1270=)
c.3261A>G (p.Lys1087=)
c.2934A>G (p.Lys978=)
c.2745A>G (p.Lys915=)
n.577-2040T>C
c.*3622-2040T>C (n.*3622-2040T>C)
c.3648A>G (p.Lys1216=)
c.2772A>G (p.Lys924=)
c.2121A>G (p.Lys707=)
c.1725A>G (p.Lys575=)
c.1467A>G (p.Lys489=)
10g.75028634A>TCA377291963DUSP29,KAT6Bc.3810A>T (p.Lys1270Asn)
c.3261A>T (p.Lys1087Asn)
c.2934A>T (p.Lys978Asn)
c.2745A>T (p.Lys915Asn)
n.577-2040T>A
c.*3622-2040T>A (n.*3622-2040T>A)
c.3648A>T (p.Lys1216Asn)
c.2772A>T (p.Lys924Asn)
c.2121A>T (p.Lys707Asn)
c.1725A>T (p.Lys575Asn)
c.1467A>T (p.Lys489Asn)
10g.75028635C>ACA377291966DUSP29,KAT6Bc.3811C>A (p.Leu1271Met)
c.3262C>A (p.Leu1088Met)
c.2935C>A (p.Leu979Met)
c.2746C>A (p.Leu916Met)
n.577-2041G>T
c.*3622-2041G>T (n.*3622-2041G>T)
c.3649C>A (p.Leu1217Met)
c.2773C>A (p.Leu925Met)
c.2122C>A (p.Leu708Met)
c.1726C>A (p.Leu576Met)
c.1468C>A (p.Leu490Met)
10g.75028635C=CA1920306409DUSP29,KAT6Bc.3811C= (p.Leu1271=)
c.3262C= (p.Leu1088=)
c.2935C= (p.Leu979=)
c.2746C= (p.Leu916=)
n.577-2041G=
c.*3622-2041G= (n.*3622-2041G=)
c.3649C= (p.Leu1217=)
c.2773C= (p.Leu925=)
c.2122C= (p.Leu708=)
c.1726C= (p.Leu576=)
c.1468C= (p.Leu490=)
10g.75028635C>GCA377291969DUSP29,KAT6Bc.3811C>G (p.Leu1271Val)
c.3262C>G (p.Leu1088Val)
c.2935C>G (p.Leu979Val)
c.2746C>G (p.Leu916Val)
n.577-2041G>C
c.*3622-2041G>C (n.*3622-2041G>C)
c.3649C>G (p.Leu1217Val)
c.2773C>G (p.Leu925Val)
c.2122C>G (p.Leu708Val)
c.1726C>G (p.Leu576Val)
c.1468C>G (p.Leu490Val)
10g.75028635C>TCA470299540DUSP29,KAT6Bc.3811C>T (p.Leu1271=)
c.3262C>T (p.Leu1088=)
c.2935C>T (p.Leu979=)
c.2746C>T (p.Leu916=)
n.577-2041G>A
c.*3622-2041G>A (n.*3622-2041G>A)
c.3649C>T (p.Leu1217=)
c.2773C>T (p.Leu925=)
c.2122C>T (p.Leu708=)
c.1726C>T (p.Leu576=)
c.1468C>T (p.Leu490=)
 dbSNP gnomAD v2 gnomAD v4
10g.75028636T>ACA377291972DUSP29,KAT6Bc.3812T>A (p.Leu1271Gln)
c.3263T>A (p.Leu1088Gln)
c.2936T>A (p.Leu979Gln)
c.2747T>A (p.Leu916Gln)
n.577-2042A>T
c.*3622-2042A>T (n.*3622-2042A>T)
c.3650T>A (p.Leu1217Gln)
c.2774T>A (p.Leu925Gln)
c.2123T>A (p.Leu708Gln)
c.1727T>A (p.Leu576Gln)
c.1469T>A (p.Leu490Gln)
10g.75028636T>CCA377291975DUSP29,KAT6Bc.3812T>C (p.Leu1271Pro)
c.3263T>C (p.Leu1088Pro)
c.2936T>C (p.Leu979Pro)
c.2747T>C (p.Leu916Pro)
n.577-2042A>G
c.*3622-2042A>G (n.*3622-2042A>G)
c.3650T>C (p.Leu1217Pro)
c.2774T>C (p.Leu925Pro)
c.2123T>C (p.Leu708Pro)
c.1727T>C (p.Leu576Pro)
c.1469T>C (p.Leu490Pro)
10g.75028636T>GCA377291978DUSP29,KAT6Bc.3812T>G (p.Leu1271Arg)
c.3263T>G (p.Leu1088Arg)
c.2936T>G (p.Leu979Arg)
c.2747T>G (p.Leu916Arg)
n.577-2042A>C
c.*3622-2042A>C (n.*3622-2042A>C)
c.3650T>G (p.Leu1217Arg)
c.2774T>G (p.Leu925Arg)
c.2123T>G (p.Leu708Arg)
c.1727T>G (p.Leu576Arg)
c.1469T>G (p.Leu490Arg)
10g.75028637G>ACA470299541DUSP29,KAT6Bc.3813G>A (p.Leu1271=)
c.3264G>A (p.Leu1088=)
c.2937G>A (p.Leu979=)
c.2748G>A (p.Leu916=)
n.577-2043C>T
c.*3622-2043C>T (n.*3622-2043C>T)
c.3651G>A (p.Leu1217=)
c.2775G>A (p.Leu925=)
c.2124G>A (p.Leu708=)
c.1728G>A (p.Leu576=)
c.1470G>A (p.Leu490=)
10g.75028637G>CCA470299542DUSP29,KAT6Bc.3813G>C (p.Leu1271=)
c.3264G>C (p.Leu1088=)
c.2937G>C (p.Leu979=)
c.2748G>C (p.Leu916=)
n.577-2043C>G
c.*3622-2043C>G (n.*3622-2043C>G)
c.3651G>C (p.Leu1217=)
c.2775G>C (p.Leu925=)
c.2124G>C (p.Leu708=)
c.1728G>C (p.Leu576=)
c.1470G>C (p.Leu490=)
10g.75028637G>TCA470299543DUSP29,KAT6Bc.3813G>T (p.Leu1271=)
c.3264G>T (p.Leu1088=)
c.2937G>T (p.Leu979=)
c.2748G>T (p.Leu916=)
n.577-2043C>A
c.*3622-2043C>A (n.*3622-2043C>A)
c.3651G>T (p.Leu1217=)
c.2775G>T (p.Leu925=)
c.2124G>T (p.Leu708=)
c.1728G>T (p.Leu576=)
c.1470G>T (p.Leu490=)
10g.75028638A>CCA377291982DUSP29,KAT6Bc.3814A>C (p.Asn1272His)
c.3265A>C (p.Asn1089His)
c.2938A>C (p.Asn980His)
c.2749A>C (p.Asn917His)
n.577-2044T>G
c.*3622-2044T>G (n.*3622-2044T>G)
c.3652A>C (p.Asn1218His)
c.2776A>C (p.Asn926His)
c.2125A>C (p.Asn709His)
c.1729A>C (p.Asn577His)
c.1471A>C (p.Asn491His)
10g.75028638A>GCA377291985DUSP29,KAT6Bc.3814A>G (p.Asn1272Asp)
c.3265A>G (p.Asn1089Asp)
c.2938A>G (p.Asn980Asp)
c.2749A>G (p.Asn917Asp)
n.577-2044T>C
c.*3622-2044T>C (n.*3622-2044T>C)
c.3652A>G (p.Asn1218Asp)
c.2776A>G (p.Asn926Asp)
c.2125A>G (p.Asn709Asp)
c.1729A>G (p.Asn577Asp)
c.1471A>G (p.Asn491Asp)
10g.75028638A>TCA377291988DUSP29,KAT6Bc.3814A>T (p.Asn1272Tyr)
c.3265A>T (p.Asn1089Tyr)
c.2938A>T (p.Asn980Tyr)
c.2749A>T (p.Asn917Tyr)
n.577-2044T>A
c.*3622-2044T>A (n.*3622-2044T>A)
c.3652A>T (p.Asn1218Tyr)
c.2776A>T (p.Asn926Tyr)
c.2125A>T (p.Asn709Tyr)
c.1729A>T (p.Asn577Tyr)
c.1471A>T (p.Asn491Tyr)
10g.75028639A>CCA377291992DUSP29,KAT6Bc.3815A>C (p.Asn1272Thr)
c.3266A>C (p.Asn1089Thr)
c.2939A>C (p.Asn980Thr)
c.2750A>C (p.Asn917Thr)
n.577-2045T>G
c.*3622-2045T>G (n.*3622-2045T>G)
c.3653A>C (p.Asn1218Thr)
c.2777A>C (p.Asn926Thr)
c.2126A>C (p.Asn709Thr)
c.1730A>C (p.Asn577Thr)
c.1472A>C (p.Asn491Thr)
10g.75028639A>GCA377291994DUSP29,KAT6Bc.3815A>G (p.Asn1272Ser)
c.3266A>G (p.Asn1089Ser)
c.2939A>G (p.Asn980Ser)
c.2750A>G (p.Asn917Ser)
n.577-2045T>C
c.*3622-2045T>C (n.*3622-2045T>C)
c.3653A>G (p.Asn1218Ser)
c.2777A>G (p.Asn926Ser)
c.2126A>G (p.Asn709Ser)
c.1730A>G (p.Asn577Ser)
c.1472A>G (p.Asn491Ser)
10g.75028639A>TCA377291997DUSP29,KAT6Bc.3815A>T (p.Asn1272Ile)
c.3266A>T (p.Asn1089Ile)
c.2939A>T (p.Asn980Ile)
c.2750A>T (p.Asn917Ile)
n.577-2045T>A
c.*3622-2045T>A (n.*3622-2045T>A)
c.3653A>T (p.Asn1218Ile)
c.2777A>T (p.Asn926Ile)
c.2126A>T (p.Asn709Ile)
c.1730A>T (p.Asn577Ile)
c.1472A>T (p.Asn491Ile)
10g.75028640T>ACA377292000DUSP29,KAT6Bc.3816T>A (p.Asn1272Lys)
c.3267T>A (p.Asn1089Lys)
c.2940T>A (p.Asn980Lys)
c.2751T>A (p.Asn917Lys)
n.577-2046A>T
c.*3622-2046A>T (n.*3622-2046A>T)
c.3654T>A (p.Asn1218Lys)
c.2778T>A (p.Asn926Lys)
c.2127T>A (p.Asn709Lys)
c.1731T>A (p.Asn577Lys)
c.1473T>A (p.Asn491Lys)
10g.75028640T>CCA470299544DUSP29,KAT6Bc.3816T>C (p.Asn1272=)
c.3267T>C (p.Asn1089=)
c.2940T>C (p.Asn980=)
c.2751T>C (p.Asn917=)
n.577-2046A>G
c.*3622-2046A>G (n.*3622-2046A>G)
c.3654T>C (p.Asn1218=)
c.2778T>C (p.Asn926=)
c.2127T>C (p.Asn709=)
c.1731T>C (p.Asn577=)
c.1473T>C (p.Asn491=)
 gnomAD v4
10g.75028640T>GCA377292003DUSP29,KAT6Bc.3816T>G (p.Asn1272Lys)
c.3267T>G (p.Asn1089Lys)
c.2940T>G (p.Asn980Lys)
c.2751T>G (p.Asn917Lys)
n.577-2046A>C
c.*3622-2046A>C (n.*3622-2046A>C)
c.3654T>G (p.Asn1218Lys)
c.2778T>G (p.Asn926Lys)
c.2127T>G (p.Asn709Lys)
c.1731T>G (p.Asn577Lys)
c.1473T>G (p.Asn491Lys)
10g.75028641T>ACA377292006DUSP29,KAT6Bc.3817T>A (p.Leu1273Met)
c.3268T>A (p.Leu1090Met)
c.2941T>A (p.Leu981Met)
c.2752T>A (p.Leu918Met)
n.577-2047A>T
c.*3622-2047A>T (n.*3622-2047A>T)
c.3655T>A (p.Leu1219Met)
c.2779T>A (p.Leu927Met)
c.2128T>A (p.Leu710Met)
c.1732T>A (p.Leu578Met)
c.1474T>A (p.Leu492Met)
10g.75028641T>CCA470299545DUSP29,KAT6Bc.3817T>C (p.Leu1273=)
c.3268T>C (p.Leu1090=)
c.2941T>C (p.Leu981=)
c.2752T>C (p.Leu918=)
n.577-2047A>G
c.*3622-2047A>G (n.*3622-2047A>G)
c.3655T>C (p.Leu1219=)
c.2779T>C (p.Leu927=)
c.2128T>C (p.Leu710=)
c.1732T>C (p.Leu578=)
c.1474T>C (p.Leu492=)
10g.75028641T>GCA377292008DUSP29,KAT6Bc.3817T>G (p.Leu1273Val)
c.3268T>G (p.Leu1090Val)
c.2941T>G (p.Leu981Val)
c.2752T>G (p.Leu918Val)
n.577-2047A>C
c.*3622-2047A>C (n.*3622-2047A>C)
c.3655T>G (p.Leu1219Val)
c.2779T>G (p.Leu927Val)
c.2128T>G (p.Leu710Val)
c.1732T>G (p.Leu578Val)
c.1474T>G (p.Leu492Val)
10g.75028642T>ACA377292012DUSP29,KAT6Bc.3818T>A (p.Leu1273Ter)
c.3269T>A (p.Leu1090Ter)
c.2942T>A (p.Leu981Ter)
c.2753T>A (p.Leu918Ter)
n.577-2048A>T
c.*3622-2048A>T (n.*3622-2048A>T)
c.3656T>A (p.Leu1219Ter)
c.2780T>A (p.Leu927Ter)
c.2129T>A (p.Leu710Ter)
c.1733T>A (p.Leu578Ter)
c.1475T>A (p.Leu492Ter)
10g.75028642T>CCA377292018DUSP29,KAT6Bc.3818T>C (p.Leu1273Ser)
c.3269T>C (p.Leu1090Ser)
c.2942T>C (p.Leu981Ser)
c.2753T>C (p.Leu918Ser)
n.577-2048A>G
c.*3622-2048A>G (n.*3622-2048A>G)
c.3656T>C (p.Leu1219Ser)
c.2780T>C (p.Leu927Ser)
c.2129T>C (p.Leu710Ser)
c.1733T>C (p.Leu578Ser)
c.1475T>C (p.Leu492Ser)
10g.75028642T>GCA377292014DUSP29,KAT6Bc.3818T>G (p.Leu1273Trp)
c.3269T>G (p.Leu1090Trp)
c.2942T>G (p.Leu981Trp)
c.2753T>G (p.Leu918Trp)
n.577-2048A>C
c.*3622-2048A>C (n.*3622-2048A>C)
c.3656T>G (p.Leu1219Trp)
c.2780T>G (p.Leu927Trp)
c.2129T>G (p.Leu710Trp)
c.1733T>G (p.Leu578Trp)
c.1475T>G (p.Leu492Trp)
10g.75028643G>ACA470299546DUSP29,KAT6Bc.3819G>A (p.Leu1273=)
c.3270G>A (p.Leu1090=)
c.2943G>A (p.Leu981=)
c.2754G>A (p.Leu918=)
n.577-2049C>T
c.*3622-2049C>T (n.*3622-2049C>T)
c.3657G>A (p.Leu1219=)
c.2781G>A (p.Leu927=)
c.2130G>A (p.Leu710=)
c.1734G>A (p.Leu578=)
c.1476G>A (p.Leu492=)
10g.75028643G>CCA377292021DUSP29,KAT6Bc.3819G>C (p.Leu1273Phe)
c.3270G>C (p.Leu1090Phe)
c.2943G>C (p.Leu981Phe)
c.2754G>C (p.Leu918Phe)
n.577-2049C>G
c.*3622-2049C>G (n.*3622-2049C>G)
c.3657G>C (p.Leu1219Phe)
c.2781G>C (p.Leu927Phe)
c.2130G>C (p.Leu710Phe)
c.1734G>C (p.Leu578Phe)
c.1476G>C (p.Leu492Phe)
10g.75028643G>TCA377292025DUSP29,KAT6Bc.3819G>T (p.Leu1273Phe)
c.3270G>T (p.Leu1090Phe)
c.2943G>T (p.Leu981Phe)
c.2754G>T (p.Leu918Phe)
n.577-2049C>A
c.*3622-2049C>A (n.*3622-2049C>A)
c.3657G>T (p.Leu1219Phe)
c.2781G>T (p.Leu927Phe)
c.2130G>T (p.Leu710Phe)
c.1734G>T (p.Leu578Phe)
c.1476G>T (p.Leu492Phe)
10g.75028644T>ACA377292028DUSP29,KAT6Bc.3820T>A (p.Tyr1274Asn)
c.3271T>A (p.Tyr1091Asn)
c.2944T>A (p.Tyr982Asn)
c.2755T>A (p.Tyr919Asn)
n.577-2050A>T
c.*3622-2050A>T (n.*3622-2050A>T)
c.3658T>A (p.Tyr1220Asn)
c.2782T>A (p.Tyr928Asn)
c.2131T>A (p.Tyr711Asn)
c.1735T>A (p.Tyr579Asn)
c.1477T>A (p.Tyr493Asn)
10g.75028644T>CCA377292031DUSP29,KAT6Bc.3820T>C (p.Tyr1274His)
c.3271T>C (p.Tyr1091His)
c.2944T>C (p.Tyr982His)
c.2755T>C (p.Tyr919His)
n.577-2050A>G
c.*3622-2050A>G (n.*3622-2050A>G)
c.3658T>C (p.Tyr1220His)
c.2782T>C (p.Tyr928His)
c.2131T>C (p.Tyr711His)
c.1735T>C (p.Tyr579His)
c.1477T>C (p.Tyr493His)
 gnomAD v4
10g.75028644T>GCA377292034DUSP29,KAT6Bc.3820T>G (p.Tyr1274Asp)
c.3271T>G (p.Tyr1091Asp)
c.2944T>G (p.Tyr982Asp)
c.2755T>G (p.Tyr919Asp)
n.577-2050A>C
c.*3622-2050A>C (n.*3622-2050A>C)
c.3658T>G (p.Tyr1220Asp)
c.2782T>G (p.Tyr928Asp)
c.2131T>G (p.Tyr711Asp)
c.1735T>G (p.Tyr579Asp)
c.1477T>G (p.Tyr493Asp)
10g.75028645A=CA1920306410DUSP29,KAT6Bc.3821A= (p.Tyr1274=)
c.3272A= (p.Tyr1091=)
c.2945A= (p.Tyr982=)
c.2756A= (p.Tyr919=)
n.577-2051T=
c.*3622-2051T= (n.*3622-2051T=)
c.3659A= (p.Tyr1220=)
c.2783A= (p.Tyr928=)
c.2132A= (p.Tyr711=)
c.1736A= (p.Tyr579=)
c.1478A= (p.Tyr493=)
10g.75028645A>CCA377292038DUSP29,KAT6Bc.3821A>C (p.Tyr1274Ser)
c.3272A>C (p.Tyr1091Ser)
c.2945A>C (p.Tyr982Ser)
c.2756A>C (p.Tyr919Ser)
n.577-2051T>G
c.*3622-2051T>G (n.*3622-2051T>G)
c.3659A>C (p.Tyr1220Ser)
c.2783A>C (p.Tyr928Ser)
c.2132A>C (p.Tyr711Ser)
c.1736A>C (p.Tyr579Ser)
c.1478A>C (p.Tyr493Ser)
10g.75028645A>GCA209709127DUSP29,KAT6Bc.3821A>G (p.Tyr1274Cys)
c.3272A>G (p.Tyr1091Cys)
c.2945A>G (p.Tyr982Cys)
c.2756A>G (p.Tyr919Cys)
n.577-2051T>C
c.*3622-2051T>C (n.*3622-2051T>C)
c.3659A>G (p.Tyr1220Cys)
c.2783A>G (p.Tyr928Cys)
c.2132A>G (p.Tyr711Cys)
c.1736A>G (p.Tyr579Cys)
c.1478A>G (p.Tyr493Cys)
 dbSNP
10g.75028645A>TCA377292041DUSP29,KAT6Bc.3821A>T (p.Tyr1274Phe)
c.3272A>T (p.Tyr1091Phe)
c.2945A>T (p.Tyr982Phe)
c.2756A>T (p.Tyr919Phe)
n.577-2051T>A
c.*3622-2051T>A (n.*3622-2051T>A)
c.3659A>T (p.Tyr1220Phe)
c.2783A>T (p.Tyr928Phe)
c.2132A>T (p.Tyr711Phe)
c.1736A>T (p.Tyr579Phe)
c.1478A>T (p.Tyr493Phe)
10g.75028646C>ACA377292048DUSP29,KAT6Bc.3822C>A (p.Tyr1274Ter)
c.3273C>A (p.Tyr1091Ter)
c.2946C>A (p.Tyr982Ter)
c.2757C>A (p.Tyr919Ter)
n.577-2052G>T
c.*3622-2052G>T (n.*3622-2052G>T)
c.3660C>A (p.Tyr1220Ter)
c.2784C>A (p.Tyr928Ter)
c.2133C>A (p.Tyr711Ter)
c.1737C>A (p.Tyr579Ter)
c.1479C>A (p.Tyr493Ter)
10g.75028646C>GCA377292050DUSP29,KAT6Bc.3822C>G (p.Tyr1274Ter)
c.3273C>G (p.Tyr1091Ter)
c.2946C>G (p.Tyr982Ter)
c.2757C>G (p.Tyr919Ter)
n.577-2052G>C
c.*3622-2052G>C (n.*3622-2052G>C)
c.3660C>G (p.Tyr1220Ter)
c.2784C>G (p.Tyr928Ter)
c.2133C>G (p.Tyr711Ter)
c.1737C>G (p.Tyr579Ter)
c.1479C>G (p.Tyr493Ter)
10g.75028646C>TCA470299547DUSP29,KAT6Bc.3822C>T (p.Tyr1274=)
c.3273C>T (p.Tyr1091=)
c.2946C>T (p.Tyr982=)
c.2757C>T (p.Tyr919=)
n.577-2052G>A
c.*3622-2052G>A (n.*3622-2052G>A)
c.3660C>T (p.Tyr1220=)
c.2784C>T (p.Tyr928=)
c.2133C>T (p.Tyr711=)
c.1737C>T (p.Tyr579=)
c.1479C>T (p.Tyr493=)
10g.75028647A=CA1920306411DUSP29,KAT6Bc.3823A= (p.Thr1275=)
c.3274A= (p.Thr1092=)
c.2947A= (p.Thr983=)
c.2758A= (p.Thr920=)
n.577-2053T=
c.*3622-2053T= (n.*3622-2053T=)
c.3661A= (p.Thr1221=)
c.2785A= (p.Thr929=)
c.2134A= (p.Thr712=)
c.1738A= (p.Thr580=)
c.1480A= (p.Thr494=)
10g.75028647A>CCA377292059DUSP29,KAT6Bc.3823A>C (p.Thr1275Pro)
c.3274A>C (p.Thr1092Pro)
c.2947A>C (p.Thr983Pro)
c.2758A>C (p.Thr920Pro)
n.577-2053T>G
c.*3622-2053T>G (n.*3622-2053T>G)
c.3661A>C (p.Thr1221Pro)
c.2785A>C (p.Thr929Pro)
c.2134A>C (p.Thr712Pro)
c.1738A>C (p.Thr580Pro)
c.1480A>C (p.Thr494Pro)
 dbSNP
10g.75028647A>GCA377292057DUSP29,KAT6Bc.3823A>G (p.Thr1275Ala)
c.3274A>G (p.Thr1092Ala)
c.2947A>G (p.Thr983Ala)
c.2758A>G (p.Thr920Ala)
n.577-2053T>C
c.*3622-2053T>C (n.*3622-2053T>C)
c.3661A>G (p.Thr1221Ala)
c.2785A>G (p.Thr929Ala)
c.2134A>G (p.Thr712Ala)
c.1738A>G (p.Thr580Ala)
c.1480A>G (p.Thr494Ala)
10g.75028647A>TCA377292055DUSP29,KAT6Bc.3823A>T (p.Thr1275Ser)
c.3274A>T (p.Thr1092Ser)
c.2947A>T (p.Thr983Ser)
c.2758A>T (p.Thr920Ser)
n.577-2053T>A
c.*3622-2053T>A (n.*3622-2053T>A)
c.3661A>T (p.Thr1221Ser)
c.2785A>T (p.Thr929Ser)
c.2134A>T (p.Thr712Ser)
c.1738A>T (p.Thr580Ser)
c.1480A>T (p.Thr494Ser)
10g.75028648C>ACA377292068DUSP29,KAT6Bc.3824C>A (p.Thr1275Asn)
c.3275C>A (p.Thr1092Asn)
c.2948C>A (p.Thr983Asn)
c.2759C>A (p.Thr920Asn)
n.577-2054G>T
c.*3622-2054G>T (n.*3622-2054G>T)
c.3662C>A (p.Thr1221Asn)
c.2786C>A (p.Thr929Asn)
c.2135C>A (p.Thr712Asn)
c.1739C>A (p.Thr580Asn)
c.1481C>A (p.Thr494Asn)
 gnomAD v4
10g.75028648C=CA1920306412DUSP29,KAT6Bc.3824C= (p.Thr1275=)
c.3275C= (p.Thr1092=)
c.2948C= (p.Thr983=)
c.2759C= (p.Thr920=)
n.577-2054G=
c.*3622-2054G= (n.*3622-2054G=)
c.3662C= (p.Thr1221=)
c.2786C= (p.Thr929=)
c.2135C= (p.Thr712=)
c.1739C= (p.Thr580=)
c.1481C= (p.Thr494=)
10g.75028648C>GCA377292070DUSP29,KAT6Bc.3824C>G (p.Thr1275Ser)
c.3275C>G (p.Thr1092Ser)
c.2948C>G (p.Thr983Ser)
c.2759C>G (p.Thr920Ser)
n.577-2054G>C
c.*3622-2054G>C (n.*3622-2054G>C)
c.3662C>G (p.Thr1221Ser)
c.2786C>G (p.Thr929Ser)
c.2135C>G (p.Thr712Ser)
c.1739C>G (p.Thr580Ser)
c.1481C>G (p.Thr494Ser)
10g.75028648C>TCA5564911DUSP29,KAT6Bc.3824C>T (p.Thr1275Ile)
c.3275C>T (p.Thr1092Ile)
c.2948C>T (p.Thr983Ile)
c.2759C>T (p.Thr920Ile)
n.577-2054G>A
c.*3622-2054G>A (n.*3622-2054G>A)
c.3662C>T (p.Thr1221Ile)
c.2786C>T (p.Thr929Ile)
c.2135C>T (p.Thr712Ile)
c.1739C>T (p.Thr580Ile)
c.1481C>T (p.Thr494Ile)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.75028649C>ACA470299548DUSP29,KAT6Bc.3825C>A (p.Thr1275=)
c.3276C>A (p.Thr1092=)
c.2949C>A (p.Thr983=)
c.2760C>A (p.Thr920=)
n.577-2055G>T
c.*3622-2055G>T (n.*3622-2055G>T)
c.3663C>A (p.Thr1221=)
c.2787C>A (p.Thr929=)
c.2136C>A (p.Thr712=)
c.1740C>A (p.Thr580=)
c.1482C>A (p.Thr494=)
10g.75028649C>GCA470299549DUSP29,KAT6Bc.3825C>G (p.Thr1275=)
c.3276C>G (p.Thr1092=)
c.2949C>G (p.Thr983=)
c.2760C>G (p.Thr920=)
n.577-2055G>C
c.*3622-2055G>C (n.*3622-2055G>C)
c.3663C>G (p.Thr1221=)
c.2787C>G (p.Thr929=)
c.2136C>G (p.Thr712=)
c.1740C>G (p.Thr580=)
c.1482C>G (p.Thr494=)
 gnomAD v4
10g.75028649C>TCA470299550DUSP29,KAT6Bc.3825C>T (p.Thr1275=)
c.3276C>T (p.Thr1092=)
c.2949C>T (p.Thr983=)
c.2760C>T (p.Thr920=)
n.577-2055G>A
c.*3622-2055G>A (n.*3622-2055G>A)
c.3663C>T (p.Thr1221=)
c.2787C>T (p.Thr929=)
c.2136C>T (p.Thr712=)
c.1740C>T (p.Thr580=)
c.1482C>T (p.Thr494=)
10g.75028650C>ACA377292076DUSP29,KAT6Bc.3826C>A (p.Pro1276Thr)
c.3277C>A (p.Pro1093Thr)
c.2950C>A (p.Pro984Thr)
c.2761C>A (p.Pro921Thr)
n.577-2056G>T
c.*3622-2056G>T (n.*3622-2056G>T)
c.3664C>A (p.Pro1222Thr)
c.2788C>A (p.Pro930Thr)
c.2137C>A (p.Pro713Thr)
c.1741C>A (p.Pro581Thr)
c.1483C>A (p.Pro495Thr)
10g.75028650C>GCA377292079DUSP29,KAT6Bc.3826C>G (p.Pro1276Ala)
c.3277C>G (p.Pro1093Ala)
c.2950C>G (p.Pro984Ala)
c.2761C>G (p.Pro921Ala)
n.577-2056G>C
c.*3622-2056G>C (n.*3622-2056G>C)
c.3664C>G (p.Pro1222Ala)
c.2788C>G (p.Pro930Ala)
c.2137C>G (p.Pro713Ala)
c.1741C>G (p.Pro581Ala)
c.1483C>G (p.Pro495Ala)
 gnomAD v4
10g.75028650C>TCA377292082DUSP29,KAT6Bc.3826C>T (p.Pro1276Ser)
c.3277C>T (p.Pro1093Ser)
c.2950C>T (p.Pro984Ser)
c.2761C>T (p.Pro921Ser)
n.577-2056G>A
c.*3622-2056G>A (n.*3622-2056G>A)
c.3664C>T (p.Pro1222Ser)
c.2788C>T (p.Pro930Ser)
c.2137C>T (p.Pro713Ser)
c.1741C>T (p.Pro581Ser)
c.1483C>T (p.Pro495Ser)
 COSMIC
10g.75028651C>ACA377292086DUSP29,KAT6Bc.3827C>A (p.Pro1276Gln)
c.3278C>A (p.Pro1093Gln)
c.2951C>A (p.Pro984Gln)
c.2762C>A (p.Pro921Gln)
n.577-2057G>T
c.*3622-2057G>T (n.*3622-2057G>T)
c.3665C>A (p.Pro1222Gln)
c.2789C>A (p.Pro930Gln)
c.2138C>A (p.Pro713Gln)
c.1742C>A (p.Pro581Gln)
c.1484C>A (p.Pro495Gln)
10g.75028651C=CA1920306413DUSP29,KAT6Bc.3827C= (p.Pro1276=)
c.3278C= (p.Pro1093=)
c.2951C= (p.Pro984=)
c.2762C= (p.Pro921=)
n.577-2057G=
c.*3622-2057G= (n.*3622-2057G=)
c.3665C= (p.Pro1222=)
c.2789C= (p.Pro930=)
c.2138C= (p.Pro713=)
c.1742C= (p.Pro581=)
c.1484C= (p.Pro495=)
10g.75028651C>GCA377292089DUSP29,KAT6Bc.3827C>G (p.Pro1276Arg)
c.3278C>G (p.Pro1093Arg)
c.2951C>G (p.Pro984Arg)
c.2762C>G (p.Pro921Arg)
n.577-2057G>C
c.*3622-2057G>C (n.*3622-2057G>C)
c.3665C>G (p.Pro1222Arg)
c.2789C>G (p.Pro930Arg)
c.2138C>G (p.Pro713Arg)
c.1742C>G (p.Pro581Arg)
c.1484C>G (p.Pro495Arg)
10g.75028651C>TCA377292092DUSP29,KAT6Bc.3827C>T (p.Pro1276Leu)
c.3278C>T (p.Pro1093Leu)
c.2951C>T (p.Pro984Leu)
c.2762C>T (p.Pro921Leu)
n.577-2057G>A
c.*3622-2057G>A (n.*3622-2057G>A)
c.3665C>T (p.Pro1222Leu)
c.2789C>T (p.Pro930Leu)
c.2138C>T (p.Pro713Leu)
c.1742C>T (p.Pro581Leu)
c.1484C>T (p.Pro495Leu)
 ClinVar dbSNP gnomAD v4
10g.75028652G>ACA5564912DUSP29,KAT6Bc.3828G>A (p.Pro1276=)
c.3279G>A (p.Pro1093=)
c.2952G>A (p.Pro984=)
c.2763G>A (p.Pro921=)
n.577-2058C>T
c.*3622-2058C>T (n.*3622-2058C>T)
c.3666G>A (p.Pro1222=)
c.2790G>A (p.Pro930=)
c.2139G>A (p.Pro713=)
c.1743G>A (p.Pro581=)
c.1485G>A (p.Pro495=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.75028652G>CCA470299552DUSP29,KAT6Bc.3828G>C (p.Pro1276=)
c.3279G>C (p.Pro1093=)
c.2952G>C (p.Pro984=)
c.2763G>C (p.Pro921=)
n.577-2058C>G
c.*3622-2058C>G (n.*3622-2058C>G)
c.3666G>C (p.Pro1222=)
c.2790G>C (p.Pro930=)
c.2139G>C (p.Pro713=)
c.1743G>C (p.Pro581=)
c.1485G>C (p.Pro495=)
10g.75028652G=CA1920306414DUSP29,KAT6Bc.3828G= (p.Pro1276=)
c.3279G= (p.Pro1093=)
c.2952G= (p.Pro984=)
c.2763G= (p.Pro921=)
n.577-2058C=
c.*3622-2058C= (n.*3622-2058C=)
c.3666G= (p.Pro1222=)
c.2790G= (p.Pro930=)
c.2139G= (p.Pro713=)
c.1743G= (p.Pro581=)
c.1485G= (p.Pro495=)
10g.75028652G>TCA470299551DUSP29,KAT6Bc.3828G>T (p.Pro1276=)
c.3279G>T (p.Pro1093=)
c.2952G>T (p.Pro984=)
c.2763G>T (p.Pro921=)
n.577-2058C>A
c.*3622-2058C>A (n.*3622-2058C>A)
c.3666G>T (p.Pro1222=)
c.2790G>T (p.Pro930=)
c.2139G>T (p.Pro713=)
c.1743G>T (p.Pro581=)
c.1485G>T (p.Pro495=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
10g.75028653C>ACA377292099DUSP29,KAT6Bc.3829C>A (p.Pro1277Thr)
c.3280C>A (p.Pro1094Thr)
c.2953C>A (p.Pro985Thr)
c.2764C>A (p.Pro922Thr)
n.577-2059G>T
c.*3622-2059G>T (n.*3622-2059G>T)
c.3667C>A (p.Pro1223Thr)
c.2791C>A (p.Pro931Thr)
c.2140C>A (p.Pro714Thr)
c.1744C>A (p.Pro582Thr)
c.1486C>A (p.Pro496Thr)
10g.75028653C=CA1920306415DUSP29,KAT6Bc.3829C= (p.Pro1277=)
c.3280C= (p.Pro1094=)
c.2953C= (p.Pro985=)
c.2764C= (p.Pro922=)
n.577-2059G=
c.*3622-2059G= (n.*3622-2059G=)
c.3667C= (p.Pro1223=)
c.2791C= (p.Pro931=)
c.2140C= (p.Pro714=)
c.1744C= (p.Pro582=)
c.1486C= (p.Pro496=)
10g.75028653C>GCA209709135DUSP29,KAT6Bc.3829C>G (p.Pro1277Ala)
c.3280C>G (p.Pro1094Ala)
c.2953C>G (p.Pro985Ala)
c.2764C>G (p.Pro922Ala)
n.577-2059G>C
c.*3622-2059G>C (n.*3622-2059G>C)
c.3667C>G (p.Pro1223Ala)
c.2791C>G (p.Pro931Ala)
c.2140C>G (p.Pro714Ala)
c.1744C>G (p.Pro582Ala)
c.1486C>G (p.Pro496Ala)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.75028653C>TCA377292107DUSP29,KAT6Bc.3829C>T (p.Pro1277Ser)
c.3280C>T (p.Pro1094Ser)
c.2953C>T (p.Pro985Ser)
c.2764C>T (p.Pro922Ser)
n.577-2059G>A
c.*3622-2059G>A (n.*3622-2059G>A)
c.3667C>T (p.Pro1223Ser)
c.2791C>T (p.Pro931Ser)
c.2140C>T (p.Pro714Ser)
c.1744C>T (p.Pro582Ser)
c.1486C>T (p.Pro496Ser)
10g.75028654C>ACA377292117DUSP29,KAT6Bc.3830C>A (p.Pro1277Gln)
c.3281C>A (p.Pro1094Gln)
c.2954C>A (p.Pro985Gln)
c.2765C>A (p.Pro922Gln)
n.577-2060G>T
c.*3622-2060G>T (n.*3622-2060G>T)
c.3668C>A (p.Pro1223Gln)
c.2792C>A (p.Pro931Gln)
c.2141C>A (p.Pro714Gln)
c.1745C>A (p.Pro582Gln)
c.1487C>A (p.Pro496Gln)
10g.75028654C>GCA377292112DUSP29,KAT6Bc.3830C>G (p.Pro1277Arg)
c.3281C>G (p.Pro1094Arg)
c.2954C>G (p.Pro985Arg)
c.2765C>G (p.Pro922Arg)
n.577-2060G>C
c.*3622-2060G>C (n.*3622-2060G>C)
c.3668C>G (p.Pro1223Arg)
c.2792C>G (p.Pro931Arg)
c.2141C>G (p.Pro714Arg)
c.1745C>G (p.Pro582Arg)
c.1487C>G (p.Pro496Arg)
10g.75028654C>TCA377292114DUSP29,KAT6Bc.3830C>T (p.Pro1277Leu)
c.3281C>T (p.Pro1094Leu)
c.2954C>T (p.Pro985Leu)
c.2765C>T (p.Pro922Leu)
n.577-2060G>A
c.*3622-2060G>A (n.*3622-2060G>A)
c.3668C>T (p.Pro1223Leu)
c.2792C>T (p.Pro931Leu)
c.2141C>T (p.Pro714Leu)
c.1745C>T (p.Pro582Leu)
c.1487C>T (p.Pro496Leu)
10g.75028655A>CCA470299555DUSP29,KAT6Bc.3831A>C (p.Pro1277=)
c.3282A>C (p.Pro1094=)
c.2955A>C (p.Pro985=)
c.2766A>C (p.Pro922=)
n.577-2061T>G
c.*3622-2061T>G (n.*3622-2061T>G)
c.3669A>C (p.Pro1223=)
c.2793A>C (p.Pro931=)
c.2142A>C (p.Pro714=)
c.1746A>C (p.Pro582=)
c.1488A>C (p.Pro496=)
10g.75028655A>GCA470299554DUSP29,KAT6Bc.3831A>G (p.Pro1277=)
c.3282A>G (p.Pro1094=)
c.2955A>G (p.Pro985=)
c.2766A>G (p.Pro922=)
n.577-2061T>C
c.*3622-2061T>C (n.*3622-2061T>C)
c.3669A>G (p.Pro1223=)
c.2793A>G (p.Pro931=)
c.2142A>G (p.Pro714=)
c.1746A>G (p.Pro582=)
c.1488A>G (p.Pro496=)
 dbSNP
10g.75028655A>TCA470299553DUSP29,KAT6Bc.3831A>T (p.Pro1277=)
c.3282A>T (p.Pro1094=)
c.2955A>T (p.Pro985=)
c.2766A>T (p.Pro922=)
n.577-2061T>A
c.*3622-2061T>A (n.*3622-2061T>A)
c.3669A>T (p.Pro1223=)
c.2793A>T (p.Pro931=)
c.2142A>T (p.Pro714=)
c.1746A>T (p.Pro582=)
c.1488A>T (p.Pro496=)
 COSMIC
10g.75028656G>ACA377292120DUSP29,KAT6Bc.3832G>A (p.Glu1278Lys)
c.3283G>A (p.Glu1095Lys)
c.2956G>A (p.Glu986Lys)
c.2767G>A (p.Glu923Lys)
n.577-2062C>T
c.*3622-2062C>T (n.*3622-2062C>T)
c.3670G>A (p.Glu1224Lys)
c.2794G>A (p.Glu932Lys)
c.2143G>A (p.Glu715Lys)
c.1747G>A (p.Glu583Lys)
c.1489G>A (p.Glu497Lys)
10g.75028656G>CCA377292124DUSP29,KAT6Bc.3832G>C (p.Glu1278Gln)
c.3283G>C (p.Glu1095Gln)
c.2956G>C (p.Glu986Gln)
c.2767G>C (p.Glu923Gln)
n.577-2062C>G
c.*3622-2062C>G (n.*3622-2062C>G)
c.3670G>C (p.Glu1224Gln)
c.2794G>C (p.Glu932Gln)
c.2143G>C (p.Glu715Gln)
c.1747G>C (p.Glu583Gln)
c.1489G>C (p.Glu497Gln)
10g.75028656G>TCA377292126DUSP29,KAT6Bc.3832G>T (p.Glu1278Ter)
c.3283G>T (p.Glu1095Ter)
c.2956G>T (p.Glu986Ter)
c.2767G>T (p.Glu923Ter)
n.577-2062C>A
c.*3622-2062C>A (n.*3622-2062C>A)
c.3670G>T (p.Glu1224Ter)
c.2794G>T (p.Glu932Ter)
c.2143G>T (p.Glu715Ter)
c.1747G>T (p.Glu583Ter)
c.1489G>T (p.Glu497Ter)
10g.75028657A>CCA377292130DUSP29,KAT6Bc.3833A>C (p.Glu1278Ala)
c.3284A>C (p.Glu1095Ala)
c.2957A>C (p.Glu986Ala)
c.2768A>C (p.Glu923Ala)
n.577-2063T>G
c.*3622-2063T>G (n.*3622-2063T>G)
c.3671A>C (p.Glu1224Ala)
c.2795A>C (p.Glu932Ala)
c.2144A>C (p.Glu715Ala)
c.1748A>C (p.Glu583Ala)
c.1490A>C (p.Glu497Ala)
10g.75028657A>GCA377292132DUSP29,KAT6Bc.3833A>G (p.Glu1278Gly)
c.3284A>G (p.Glu1095Gly)
c.2957A>G (p.Glu986Gly)
c.2768A>G (p.Glu923Gly)
n.577-2063T>C
c.*3622-2063T>C (n.*3622-2063T>C)
c.3671A>G (p.Glu1224Gly)
c.2795A>G (p.Glu932Gly)
c.2144A>G (p.Glu715Gly)
c.1748A>G (p.Glu583Gly)
c.1490A>G (p.Glu497Gly)
10g.75028657A>TCA377292136DUSP29,KAT6Bc.3833A>T (p.Glu1278Val)
c.3284A>T (p.Glu1095Val)
c.2957A>T (p.Glu986Val)
c.2768A>T (p.Glu923Val)
n.577-2063T>A
c.*3622-2063T>A (n.*3622-2063T>A)
c.3671A>T (p.Glu1224Val)
c.2795A>T (p.Glu932Val)
c.2144A>T (p.Glu715Val)
c.1748A>T (p.Glu583Val)
c.1490A>T (p.Glu497Val)
10g.75028658A=CA1920306416DUSP29,KAT6Bc.3834A= (p.Glu1278=)
c.3285A= (p.Glu1095=)
c.2958A= (p.Glu986=)
c.2769A= (p.Glu923=)
n.577-2064T=
c.*3622-2064T= (n.*3622-2064T=)
c.3672A= (p.Glu1224=)
c.2796A= (p.Glu932=)
c.2145A= (p.Glu715=)
c.1749A= (p.Glu583=)
c.1491A= (p.Glu497=)
10g.75028658A>CCA377292140DUSP29,KAT6Bc.3834A>C (p.Glu1278Asp)
c.3285A>C (p.Glu1095Asp)
c.2958A>C (p.Glu986Asp)
c.2769A>C (p.Glu923Asp)
n.577-2064T>G
c.*3622-2064T>G (n.*3622-2064T>G)
c.3672A>C (p.Glu1224Asp)
c.2796A>C (p.Glu932Asp)
c.2145A>C (p.Glu715Asp)
c.1749A>C (p.Glu583Asp)
c.1491A>C (p.Glu497Asp)
 gnomAD v4
10g.75028658A>GCA209709143DUSP29,KAT6Bc.3834A>G (p.Glu1278=)
c.3285A>G (p.Glu1095=)
c.2958A>G (p.Glu986=)
c.2769A>G (p.Glu923=)
n.577-2064T>C
c.*3622-2064T>C (n.*3622-2064T>C)
c.3672A>G (p.Glu1224=)
c.2796A>G (p.Glu932=)
c.2145A>G (p.Glu715=)
c.1749A>G (p.Glu583=)
c.1491A>G (p.Glu497=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.75028658A>TCA377292156DUSP29,KAT6Bc.3834A>T (p.Glu1278Asp)
c.3285A>T (p.Glu1095Asp)
c.2958A>T (p.Glu986Asp)
c.2769A>T (p.Glu923Asp)
n.577-2064T>A
c.*3622-2064T>A (n.*3622-2064T>A)
c.3672A>T (p.Glu1224Asp)
c.2796A>T (p.Glu932Asp)
c.2145A>T (p.Glu715Asp)
c.1749A>T (p.Glu583Asp)
c.1491A>T (p.Glu497Asp)
10g.75028659A>CCA377292160DUSP29,KAT6Bc.3835A>C (p.Thr1279Pro)
c.3286A>C (p.Thr1096Pro)
c.2959A>C (p.Thr987Pro)
c.2770A>C (p.Thr924Pro)
n.577-2065T>G
c.*3622-2065T>G (n.*3622-2065T>G)
c.3673A>C (p.Thr1225Pro)
c.2797A>C (p.Thr933Pro)
c.2146A>C (p.Thr716Pro)
c.1750A>C (p.Thr584Pro)
c.1492A>C (p.Thr498Pro)
10g.75028659A>GCA377292163DUSP29,KAT6Bc.3835A>G (p.Thr1279Ala)
c.3286A>G (p.Thr1096Ala)
c.2959A>G (p.Thr987Ala)
c.2770A>G (p.Thr924Ala)
n.577-2065T>C
c.*3622-2065T>C (n.*3622-2065T>C)
c.3673A>G (p.Thr1225Ala)
c.2797A>G (p.Thr933Ala)
c.2146A>G (p.Thr716Ala)
c.1750A>G (p.Thr584Ala)
c.1492A>G (p.Thr498Ala)
10g.75028659A>TCA377292166DUSP29,KAT6Bc.3835A>T (p.Thr1279Ser)
c.3286A>T (p.Thr1096Ser)
c.2959A>T (p.Thr987Ser)
c.2770A>T (p.Thr924Ser)
n.577-2065T>A
c.*3622-2065T>A (n.*3622-2065T>A)
c.3673A>T (p.Thr1225Ser)
c.2797A>T (p.Thr933Ser)
c.2146A>T (p.Thr716Ser)
c.1750A>T (p.Thr584Ser)
c.1492A>T (p.Thr498Ser)
10g.75028660C>ACA377292178DUSP29,KAT6Bc.3836C>A (p.Thr1279Lys)
c.3287C>A (p.Thr1096Lys)
c.2960C>A (p.Thr987Lys)
c.2771C>A (p.Thr924Lys)
n.577-2066G>T
c.*3622-2066G>T (n.*3622-2066G>T)
c.3674C>A (p.Thr1225Lys)
c.2798C>A (p.Thr933Lys)
c.2147C>A (p.Thr716Lys)
c.1751C>A (p.Thr584Lys)
c.1493C>A (p.Thr498Lys)
10g.75028660C>GCA377292172DUSP29,KAT6Bc.3836C>G (p.Thr1279Arg)
c.3287C>G (p.Thr1096Arg)
c.2960C>G (p.Thr987Arg)
c.2771C>G (p.Thr924Arg)
n.577-2066G>C
c.*3622-2066G>C (n.*3622-2066G>C)
c.3674C>G (p.Thr1225Arg)
c.2798C>G (p.Thr933Arg)
c.2147C>G (p.Thr716Arg)
c.1751C>G (p.Thr584Arg)
c.1493C>G (p.Thr498Arg)
10g.75028660C>TCA377292169DUSP29,KAT6Bc.3836C>T (p.Thr1279Ile)
c.3287C>T (p.Thr1096Ile)
c.2960C>T (p.Thr987Ile)
c.2771C>T (p.Thr924Ile)
n.577-2066G>A
c.*3622-2066G>A (n.*3622-2066G>A)
c.3674C>T (p.Thr1225Ile)
c.2798C>T (p.Thr933Ile)
c.2147C>T (p.Thr716Ile)
c.1751C>T (p.Thr584Ile)
c.1493C>T (p.Thr498Ile)
10g.75028661A=CA1920306417DUSP29,KAT6Bc.3837A= (p.Thr1279=)
c.3288A= (p.Thr1096=)
c.2961A= (p.Thr987=)
c.2772A= (p.Thr924=)
n.577-2067T=
c.*3622-2067T= (n.*3622-2067T=)
c.3675A= (p.Thr1225=)
c.2799A= (p.Thr933=)
c.2148A= (p.Thr716=)
c.1752A= (p.Thr584=)
c.1494A= (p.Thr498=)
10g.75028661A>CCA5564913DUSP29,KAT6Bc.3837A>C (p.Thr1279=)
c.3288A>C (p.Thr1096=)
c.2961A>C (p.Thr987=)
c.2772A>C (p.Thr924=)
n.577-2067T>G
c.*3622-2067T>G (n.*3622-2067T>G)
c.3675A>C (p.Thr1225=)
c.2799A>C (p.Thr933=)
c.2148A>C (p.Thr716=)
c.1752A>C (p.Thr584=)
c.1494A>C (p.Thr498=)
 dbSNP ExAC gnomAD v2
10g.75028661A>GCA470299556DUSP29,KAT6Bc.3837A>G (p.Thr1279=)
c.3288A>G (p.Thr1096=)
c.2961A>G (p.Thr987=)
c.2772A>G (p.Thr924=)
n.577-2067T>C
c.*3622-2067T>C (n.*3622-2067T>C)
c.3675A>G (p.Thr1225=)
c.2799A>G (p.Thr933=)
c.2148A>G (p.Thr716=)
c.1752A>G (p.Thr584=)
c.1494A>G (p.Thr498=)
 ClinVar dbSNP
10g.75028661A>TCA470299557DUSP29,KAT6Bc.3837A>T (p.Thr1279=)
c.3288A>T (p.Thr1096=)
c.2961A>T (p.Thr987=)
c.2772A>T (p.Thr924=)
n.577-2067T>A
c.*3622-2067T>A (n.*3622-2067T>A)
c.3675A>T (p.Thr1225=)
c.2799A>T (p.Thr933=)
c.2148A>T (p.Thr716=)
c.1752A>T (p.Thr584=)
c.1494A>T (p.Thr498=)
10g.75028662C>ACA377292183DUSP29,KAT6Bc.3838C>A (p.Pro1280Thr)
c.3289C>A (p.Pro1097Thr)
c.2962C>A (p.Pro988Thr)
c.2773C>A (p.Pro925Thr)
n.577-2068G>T
c.*3622-2068G>T (n.*3622-2068G>T)
c.3676C>A (p.Pro1226Thr)
c.2800C>A (p.Pro934Thr)
c.2149C>A (p.Pro717Thr)
c.1753C>A (p.Pro585Thr)
c.1495C>A (p.Pro499Thr)
 dbSNP gnomAD v2 gnomAD v4
10g.75028662C=CA1920306418DUSP29,KAT6Bc.3838C= (p.Pro1280=)
c.3289C= (p.Pro1097=)
c.2962C= (p.Pro988=)
c.2773C= (p.Pro925=)
n.577-2068G=
c.*3622-2068G= (n.*3622-2068G=)
c.3676C= (p.Pro1226=)
c.2800C= (p.Pro934=)
c.2149C= (p.Pro717=)
c.1753C= (p.Pro585=)
c.1495C= (p.Pro499=)
10g.75028662C>GCA377292189DUSP29,KAT6Bc.3838C>G (p.Pro1280Ala)
c.3289C>G (p.Pro1097Ala)
c.2962C>G (p.Pro988Ala)
c.2773C>G (p.Pro925Ala)
n.577-2068G>C
c.*3622-2068G>C (n.*3622-2068G>C)
c.3676C>G (p.Pro1226Ala)
c.2800C>G (p.Pro934Ala)
c.2149C>G (p.Pro717Ala)
c.1753C>G (p.Pro585Ala)
c.1495C>G (p.Pro499Ala)
10g.75028662C>TCA377292185DUSP29,KAT6Bc.3838C>T (p.Pro1280Ser)
c.3289C>T (p.Pro1097Ser)
c.2962C>T (p.Pro988Ser)
c.2773C>T (p.Pro925Ser)
n.577-2068G>A
c.*3622-2068G>A (n.*3622-2068G>A)
c.3676C>T (p.Pro1226Ser)
c.2800C>T (p.Pro934Ser)
c.2149C>T (p.Pro717Ser)
c.1753C>T (p.Pro585Ser)
c.1495C>T (p.Pro499Ser)
10g.75028663C>ACA377292193DUSP29,KAT6Bc.3839C>A (p.Pro1280His)
c.3290C>A (p.Pro1097His)
c.2963C>A (p.Pro988His)
c.2774C>A (p.Pro925His)
n.577-2069G>T
c.*3622-2069G>T (n.*3622-2069G>T)
c.3677C>A (p.Pro1226His)
c.2801C>A (p.Pro934His)
c.2150C>A (p.Pro717His)
c.1754C>A (p.Pro585His)
c.1496C>A (p.Pro499His)
 gnomAD v4
10g.75028663C=CA1920306419DUSP29,KAT6Bc.3839C= (p.Pro1280=)
c.3290C= (p.Pro1097=)
c.2963C= (p.Pro988=)
c.2774C= (p.Pro925=)
n.577-2069G=
c.*3622-2069G= (n.*3622-2069G=)
c.3677C= (p.Pro1226=)
c.2801C= (p.Pro934=)
c.2150C= (p.Pro717=)
c.1754C= (p.Pro585=)
c.1496C= (p.Pro499=)
10g.75028663C>GCA5564914DUSP29,KAT6Bc.3839C>G (p.Pro1280Arg)
c.3290C>G (p.Pro1097Arg)
c.2963C>G (p.Pro988Arg)
c.2774C>G (p.Pro925Arg)
n.577-2069G>C
c.*3622-2069G>C (n.*3622-2069G>C)
c.3677C>G (p.Pro1226Arg)
c.2801C>G (p.Pro934Arg)
c.2150C>G (p.Pro717Arg)
c.1754C>G (p.Pro585Arg)
c.1496C>G (p.Pro499Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.75028663C>TCA377292198DUSP29,KAT6Bc.3839C>T (p.Pro1280Leu)
c.3290C>T (p.Pro1097Leu)
c.2963C>T (p.Pro988Leu)
c.2774C>T (p.Pro925Leu)
n.577-2069G>A
c.*3622-2069G>A (n.*3622-2069G>A)
c.3677C>T (p.Pro1226Leu)
c.2801C>T (p.Pro934Leu)
c.2150C>T (p.Pro717Leu)
c.1754C>T (p.Pro585Leu)
c.1496C>T (p.Pro499Leu)
 gnomAD v4
10g.75028664C>ACA470299558DUSP29,KAT6Bc.3840C>A (p.Pro1280=)
c.3291C>A (p.Pro1097=)
c.2964C>A (p.Pro988=)
c.2775C>A (p.Pro925=)
n.577-2070G>T
c.*3622-2070G>T (n.*3622-2070G>T)
c.3678C>A (p.Pro1226=)
c.2802C>A (p.Pro934=)
c.2151C>A (p.Pro717=)
c.1755C>A (p.Pro585=)
c.1497C>A (p.Pro499=)
10g.75028664C=CA1920306420DUSP29,KAT6Bc.3840C= (p.Pro1280=)
c.3291C= (p.Pro1097=)
c.2964C= (p.Pro988=)
c.2775C= (p.Pro925=)
n.577-2070G=
c.*3622-2070G= (n.*3622-2070G=)
c.3678C= (p.Pro1226=)
c.2802C= (p.Pro934=)
c.2151C= (p.Pro717=)
c.1755C= (p.Pro585=)
c.1497C= (p.Pro499=)
10g.75028664C>GCA470299559DUSP29,KAT6Bc.3840C>G (p.Pro1280=)
c.3291C>G (p.Pro1097=)
c.2964C>G (p.Pro988=)
c.2775C>G (p.Pro925=)
n.577-2070G>C
c.*3622-2070G>C (n.*3622-2070G>C)
c.3678C>G (p.Pro1226=)
c.2802C>G (p.Pro934=)
c.2151C>G (p.Pro717=)
c.1755C>G (p.Pro585=)
c.1497C>G (p.Pro499=)
10g.75028664C>TCA209709172DUSP29,KAT6Bc.3840C>T (p.Pro1280=)
c.3291C>T (p.Pro1097=)
c.2964C>T (p.Pro988=)
c.2775C>T (p.Pro925=)
n.577-2070G>A
c.*3622-2070G>A (n.*3622-2070G>A)
c.3678C>T (p.Pro1226=)
c.2802C>T (p.Pro934=)
c.2151C>T (p.Pro717=)
c.1755C>T (p.Pro585=)
c.1497C>T (p.Pro499=)
 dbSNP
10g.75028665_75028666insACACACA2788571369DUSP29,KAT6Bc.3841_3842insACACA (p.Met1281AsnfsTer9)
c.3292_3293insACACA (p.Met1098AsnfsTer9)
c.2965_2966insACACA (p.Met989AsnfsTer9)
c.2776_2777insACACA (p.Met926AsnfsTer9)
n.577-2070_577-2069insTGTTG
c.*3622-2070_*3622-2069insTGTTG (n.*3622-2070_*3622-2069insTGTTG)
c.3679_3680insACACA (p.Met1227AsnfsTer9)
c.2803_2804insACACA (p.Met935AsnfsTer9)
c.2152_2153insACACA (p.Met718AsnfsTer9)
c.1756_1757insACACA (p.Met586AsnfsTer9)
c.1498_1499insACACA (p.Met500AsnfsTer9)
10g.75028665A=CA1920306421DUSP29,KAT6Bc.3841A= (p.Met1281=)
c.3292A= (p.Met1098=)
c.2965A= (p.Met989=)
c.2776A= (p.Met926=)
n.577-2071T=
c.*3622-2071T= (n.*3622-2071T=)
c.3679A= (p.Met1227=)
c.2803A= (p.Met935=)
c.2152A= (p.Met718=)
c.1756A= (p.Met586=)
c.1498A= (p.Met500=)
10g.75028665A>CCA377292212DUSP29,KAT6Bc.3841A>C (p.Met1281Leu)
c.3292A>C (p.Met1098Leu)
c.2965A>C (p.Met989Leu)
c.2776A>C (p.Met926Leu)
n.577-2071T>G
c.*3622-2071T>G (n.*3622-2071T>G)
c.3679A>C (p.Met1227Leu)
c.2803A>C (p.Met935Leu)
c.2152A>C (p.Met718Leu)
c.1756A>C (p.Met586Leu)
c.1498A>C (p.Met500Leu)
 gnomAD v4
10g.75028665A>GCA209709175DUSP29,KAT6Bc.3841A>G (p.Met1281Val)
c.3292A>G (p.Met1098Val)
c.2965A>G (p.Met989Val)
c.2776A>G (p.Met926Val)
n.577-2071T>C
c.*3622-2071T>C (n.*3622-2071T>C)
c.3679A>G (p.Met1227Val)
c.2803A>G (p.Met935Val)
c.2152A>G (p.Met718Val)
c.1756A>G (p.Met586Val)
c.1498A>G (p.Met500Val)
 ClinVar dbSNP gnomAD v3 gnomAD v4
10g.75028665A>TCA377292217DUSP29,KAT6Bc.3841A>T (p.Met1281Leu)
c.3292A>T (p.Met1098Leu)
c.2965A>T (p.Met989Leu)
c.2776A>T (p.Met926Leu)
n.577-2071T>A
c.*3622-2071T>A (n.*3622-2071T>A)
c.3679A>T (p.Met1227Leu)
c.2803A>T (p.Met935Leu)
c.2152A>T (p.Met718Leu)
c.1756A>T (p.Met586Leu)
c.1498A>T (p.Met500Leu)
10g.75028666T>ACA377292221DUSP29,KAT6Bc.3842T>A (p.Met1281Lys)
c.3293T>A (p.Met1098Lys)
c.2966T>A (p.Met989Lys)
c.2777T>A (p.Met926Lys)
n.577-2072A>T
c.*3622-2072A>T (n.*3622-2072A>T)
c.3680T>A (p.Met1227Lys)
c.2804T>A (p.Met935Lys)
c.2153T>A (p.Met718Lys)
c.1757T>A (p.Met586Lys)
c.1499T>A (p.Met500Lys)
10g.75028666T>CCA377292225DUSP29,KAT6Bc.3842T>C (p.Met1281Thr)
c.3293T>C (p.Met1098Thr)
c.2966T>C (p.Met989Thr)
c.2777T>C (p.Met926Thr)
n.577-2072A>G
c.*3622-2072A>G (n.*3622-2072A>G)
c.3680T>C (p.Met1227Thr)
c.2804T>C (p.Met935Thr)
c.2153T>C (p.Met718Thr)
c.1757T>C (p.Met586Thr)
c.1499T>C (p.Met500Thr)
 gnomAD v4
10g.75028666T>GCA5564915DUSP29,KAT6Bc.3842T>G (p.Met1281Arg)
c.3293T>G (p.Met1098Arg)
c.2966T>G (p.Met989Arg)
c.2777T>G (p.Met926Arg)
n.577-2072A>C
c.*3622-2072A>C (n.*3622-2072A>C)
c.3680T>G (p.Met1227Arg)
c.2804T>G (p.Met935Arg)
c.2153T>G (p.Met718Arg)
c.1757T>G (p.Met586Arg)
c.1499T>G (p.Met500Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.75028666T=CA1920306422DUSP29,KAT6Bc.3842T= (p.Met1281=)
c.3293T= (p.Met1098=)
c.2966T= (p.Met989=)
c.2777T= (p.Met926=)
n.577-2072A=
c.*3622-2072A= (n.*3622-2072A=)
c.3680T= (p.Met1227=)
c.2804T= (p.Met935=)
c.2153T= (p.Met718=)
c.1757T= (p.Met586=)
c.1499T= (p.Met500=)
10g.75028667G>ACA377292236DUSP29,KAT6Bc.3843G>A (p.Met1281Ile)
c.3294G>A (p.Met1098Ile)
c.2967G>A (p.Met989Ile)
c.2778G>A (p.Met926Ile)
n.577-2073C>T
c.*3622-2073C>T (n.*3622-2073C>T)
c.3681G>A (p.Met1227Ile)
c.2805G>A (p.Met935Ile)
c.2154G>A (p.Met718Ile)
c.1758G>A (p.Met586Ile)
c.1500G>A (p.Met500Ile)
10g.75028667G>CCA377292232DUSP29,KAT6Bc.3843G>C (p.Met1281Ile)
c.3294G>C (p.Met1098Ile)
c.2967G>C (p.Met989Ile)
c.2778G>C (p.Met926Ile)
n.577-2073C>G
c.*3622-2073C>G (n.*3622-2073C>G)
c.3681G>C (p.Met1227Ile)
c.2805G>C (p.Met935Ile)
c.2154G>C (p.Met718Ile)
c.1758G>C (p.Met586Ile)
c.1500G>C (p.Met500Ile)
10g.75028667G>TCA377292231DUSP29,KAT6Bc.3843G>T (p.Met1281Ile)
c.3294G>T (p.Met1098Ile)
c.2967G>T (p.Met989Ile)
c.2778G>T (p.Met926Ile)
n.577-2073C>A
c.*3622-2073C>A (n.*3622-2073C>A)
c.3681G>T (p.Met1227Ile)
c.2805G>T (p.Met935Ile)
c.2154G>T (p.Met718Ile)
c.1758G>T (p.Met586Ile)
c.1500G>T (p.Met500Ile)
10g.75028668G>ACA377292239DUSP29,KAT6Bc.3844G>A (p.Glu1282Lys)
c.3295G>A (p.Glu1099Lys)
c.2968G>A (p.Glu990Lys)
c.2779G>A (p.Glu927Lys)
n.577-2074C>T
c.*3622-2074C>T (n.*3622-2074C>T)
c.3682G>A (p.Glu1228Lys)
c.2806G>A (p.Glu936Lys)
c.2155G>A (p.Glu719Lys)
c.1759G>A (p.Glu587Lys)
c.1501G>A (p.Glu501Lys)
10g.75028668G>CCA377292242DUSP29,KAT6Bc.3844G>C (p.Glu1282Gln)
c.3295G>C (p.Glu1099Gln)
c.2968G>C (p.Glu990Gln)
c.2779G>C (p.Glu927Gln)
n.577-2074C>G
c.*3622-2074C>G (n.*3622-2074C>G)
c.3682G>C (p.Glu1228Gln)
c.2806G>C (p.Glu936Gln)
c.2155G>C (p.Glu719Gln)
c.1759G>C (p.Glu587Gln)
c.1501G>C (p.Glu501Gln)
10g.75028668G>TCA377292245DUSP29,KAT6Bc.3844G>T (p.Glu1282Ter)
c.3295G>T (p.Glu1099Ter)
c.2968G>T (p.Glu990Ter)
c.2779G>T (p.Glu927Ter)
n.577-2074C>A
c.*3622-2074C>A (n.*3622-2074C>A)
c.3682G>T (p.Glu1228Ter)
c.2806G>T (p.Glu936Ter)
c.2155G>T (p.Glu719Ter)
c.1759G>T (p.Glu587Ter)
c.1501G>T (p.Glu501Ter)
 COSMIC
10g.75028669A>CCA377292249DUSP29,KAT6Bc.3845A>C (p.Glu1282Ala)
c.3296A>C (p.Glu1099Ala)
c.2969A>C (p.Glu990Ala)
c.2780A>C (p.Glu927Ala)
n.577-2075T>G
c.*3622-2075T>G (n.*3622-2075T>G)
c.3683A>C (p.Glu1228Ala)
c.2807A>C (p.Glu936Ala)
c.2156A>C (p.Glu719Ala)
c.1760A>C (p.Glu587Ala)
c.1502A>C (p.Glu501Ala)
10g.75028669A>GCA377292250DUSP29,KAT6Bc.3845A>G (p.Glu1282Gly)
c.3296A>G (p.Glu1099Gly)
c.2969A>G (p.Glu990Gly)
c.2780A>G (p.Glu927Gly)
n.577-2075T>C
c.*3622-2075T>C (n.*3622-2075T>C)
c.3683A>G (p.Glu1228Gly)
c.2807A>G (p.Glu936Gly)
c.2156A>G (p.Glu719Gly)
c.1760A>G (p.Glu587Gly)
c.1502A>G (p.Glu501Gly)
10g.75028669A>TCA377292254DUSP29,KAT6Bc.3845A>T (p.Glu1282Val)
c.3296A>T (p.Glu1099Val)
c.2969A>T (p.Glu990Val)
c.2780A>T (p.Glu927Val)
n.577-2075T>A
c.*3622-2075T>A (n.*3622-2075T>A)
c.3683A>T (p.Glu1228Val)
c.2807A>T (p.Glu936Val)
c.2156A>T (p.Glu719Val)
c.1760A>T (p.Glu587Val)
c.1502A>T (p.Glu501Val)
10g.75028670G>ACA209709182DUSP29,KAT6Bc.3846G>A (p.Glu1282=)
c.3297G>A (p.Glu1099=)
c.2970G>A (p.Glu990=)
c.2781G>A (p.Glu927=)
n.577-2076C>T
c.*3622-2076C>T (n.*3622-2076C>T)
c.3684G>A (p.Glu1228=)
c.2808G>A (p.Glu936=)
c.2157G>A (p.Glu719=)
c.1761G>A (p.Glu587=)
c.1503G>A (p.Glu501=)
 dbSNP gnomAD v4
10g.75028670G>CCA377292259DUSP29,KAT6Bc.3846G>C (p.Glu1282Asp)
c.3297G>C (p.Glu1099Asp)
c.2970G>C (p.Glu990Asp)
c.2781G>C (p.Glu927Asp)
n.577-2076C>G
c.*3622-2076C>G (n.*3622-2076C>G)
c.3684G>C (p.Glu1228Asp)
c.2808G>C (p.Glu936Asp)
c.2157G>C (p.Glu719Asp)
c.1761G>C (p.Glu587Asp)
c.1503G>C (p.Glu501Asp)
10g.75028670G=CA1920306423DUSP29,KAT6Bc.3846G= (p.Glu1282=)
c.3297G= (p.Glu1099=)
c.2970G= (p.Glu990=)
c.2781G= (p.Glu927=)
n.577-2076C=
c.*3622-2076C= (n.*3622-2076C=)
c.3684G= (p.Glu1228=)
c.2808G= (p.Glu936=)
c.2157G= (p.Glu719=)
c.1761G= (p.Glu587=)
c.1503G= (p.Glu501=)
10g.75028670G>TCA377292263DUSP29,KAT6Bc.3846G>T (p.Glu1282Asp)
c.3297G>T (p.Glu1099Asp)
c.2970G>T (p.Glu990Asp)
c.2781G>T (p.Glu927Asp)
n.577-2076C>A
c.*3622-2076C>A (n.*3622-2076C>A)
c.3684G>T (p.Glu1228Asp)
c.2808G>T (p.Glu936Asp)
c.2157G>T (p.Glu719Asp)
c.1761G>T (p.Glu587Asp)
c.1503G>T (p.Glu501Asp)
10g.75028671C>ACA377292266DUSP29,KAT6Bc.3847C>A (p.Pro1283Thr)
c.3298C>A (p.Pro1100Thr)
c.2971C>A (p.Pro991Thr)
c.2782C>A (p.Pro928Thr)
n.577-2077G>T
c.*3622-2077G>T (n.*3622-2077G>T)
c.3685C>A (p.Pro1229Thr)
c.2809C>A (p.Pro937Thr)
c.2158C>A (p.Pro720Thr)
c.1762C>A (p.Pro588Thr)
c.1504C>A (p.Pro502Thr)
 dbSNP gnomAD v4
10g.75028671C=CA1920306424DUSP29,KAT6Bc.3847C= (p.Pro1283=)
c.3298C= (p.Pro1100=)
c.2971C= (p.Pro991=)
c.2782C= (p.Pro928=)
n.577-2077G=
c.*3622-2077G= (n.*3622-2077G=)
c.3685C= (p.Pro1229=)
c.2809C= (p.Pro937=)
c.2158C= (p.Pro720=)
c.1762C= (p.Pro588=)
c.1504C= (p.Pro502=)
10g.75028671C>GCA5564916DUSP29,KAT6Bc.3847C>G (p.Pro1283Ala)
c.3298C>G (p.Pro1100Ala)
c.2971C>G (p.Pro991Ala)
c.2782C>G (p.Pro928Ala)
n.577-2077G>C
c.*3622-2077G>C (n.*3622-2077G>C)
c.3685C>G (p.Pro1229Ala)
c.2809C>G (p.Pro937Ala)
c.2158C>G (p.Pro720Ala)
c.1762C>G (p.Pro588Ala)
c.1504C>G (p.Pro502Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.75028671C>TCA377292270DUSP29,KAT6Bc.3847C>T (p.Pro1283Ser)
c.3298C>T (p.Pro1100Ser)
c.2971C>T (p.Pro991Ser)
c.2782C>T (p.Pro928Ser)
n.577-2077G>A
c.*3622-2077G>A (n.*3622-2077G>A)
c.3685C>T (p.Pro1229Ser)
c.2809C>T (p.Pro937Ser)
c.2158C>T (p.Pro720Ser)
c.1762C>T (p.Pro588Ser)
c.1504C>T (p.Pro502Ser)
10g.75028672C>ACA377292276DUSP29,KAT6Bc.3848C>A (p.Pro1283His)
c.3299C>A (p.Pro1100His)
c.2972C>A (p.Pro991His)
c.2783C>A (p.Pro928His)
n.577-2078G>T
c.*3622-2078G>T (n.*3622-2078G>T)
c.3686C>A (p.Pro1229His)
c.2810C>A (p.Pro937His)
c.2159C>A (p.Pro720His)
c.1763C>A (p.Pro588His)
c.1505C>A (p.Pro502His)
10g.75028672C>GCA377292279DUSP29,KAT6Bc.3848C>G (p.Pro1283Arg)
c.3299C>G (p.Pro1100Arg)
c.2972C>G (p.Pro991Arg)
c.2783C>G (p.Pro928Arg)
n.577-2078G>C
c.*3622-2078G>C (n.*3622-2078G>C)
c.3686C>G (p.Pro1229Arg)
c.2810C>G (p.Pro937Arg)
c.2159C>G (p.Pro720Arg)
c.1763C>G (p.Pro588Arg)
c.1505C>G (p.Pro502Arg)
10g.75028672C>TCA377292273DUSP29,KAT6Bc.3848C>T (p.Pro1283Leu)
c.3299C>T (p.Pro1100Leu)
c.2972C>T (p.Pro991Leu)
c.2783C>T (p.Pro928Leu)
n.577-2078G>A
c.*3622-2078G>A (n.*3622-2078G>A)
c.3686C>T (p.Pro1229Leu)
c.2810C>T (p.Pro937Leu)
c.2159C>T (p.Pro720Leu)
c.1763C>T (p.Pro588Leu)
c.1505C>T (p.Pro502Leu)
10g.75028673T>ACA470299562DUSP29,KAT6Bc.3849T>A (p.Pro1283=)
c.3300T>A (p.Pro1100=)
c.2973T>A (p.Pro991=)
c.2784T>A (p.Pro928=)
n.577-2079A>T
c.*3622-2079A>T (n.*3622-2079A>T)
c.3687T>A (p.Pro1229=)
c.2811T>A (p.Pro937=)
c.2160T>A (p.Pro720=)
c.1764T>A (p.Pro588=)
c.1506T>A (p.Pro502=)
10g.75028673T>CCA470299561DUSP29,KAT6Bc.3849T>C (p.Pro1283=)
c.3300T>C (p.Pro1100=)
c.2973T>C (p.Pro991=)
c.2784T>C (p.Pro928=)
n.577-2079A>G
c.*3622-2079A>G (n.*3622-2079A>G)
c.3687T>C (p.Pro1229=)
c.2811T>C (p.Pro937=)
c.2160T>C (p.Pro720=)
c.1764T>C (p.Pro588=)
c.1506T>C (p.Pro502=)
10g.75028673T>GCA470299560DUSP29,KAT6Bc.3849T>G (p.Pro1283=)
c.3300T>G (p.Pro1100=)
c.2973T>G (p.Pro991=)
c.2784T>G (p.Pro928=)
n.577-2079A>C
c.*3622-2079A>C (n.*3622-2079A>C)
c.3687T>G (p.Pro1229=)
c.2811T>G (p.Pro937=)
c.2160T>G (p.Pro720=)
c.1764T>G (p.Pro588=)
c.1506T>G (p.Pro502=)
10g.75028673_75028681delinsTGACGAGCACA1920306425DUSP29,KAT6Bc.3849_3857delinsTGACGAGCA (p.Pro1283=)
c.3300_3308delinsTGACGAGCA (p.Pro1100=)
c.2973_2981delinsTGACGAGCA (p.Pro991=)
c.2784_2792delinsTGACGAGCA (p.Pro928=)
n.577-2087_577-2079delinsTGCTCGTCA
c.*3622-2087_*3622-2079delinsTGCTCGTCA (n.*3622-2087_*3622-2079delinsTGCTCGTCA)
c.3687_3695delinsTGACGAGCA (p.Pro1229=)
c.2811_2819delinsTGACGAGCA (p.Pro937=)
c.2160_2168delinsTGACGAGCA (p.Pro720=)
c.1764_1772delinsTGACGAGCA (p.Pro588=)
c.1506_1514delinsTGACGAGCA (p.Pro502=)
10g.75028674G>ACA377292282DUSP29,KAT6Bc.3850G>A (p.Asp1284Asn)
c.3301G>A (p.Asp1101Asn)
c.2974G>A (p.Asp992Asn)
c.2785G>A (p.Asp929Asn)
n.577-2080C>T
c.*3622-2080C>T (n.*3622-2080C>T)
c.3688G>A (p.Asp1230Asn)
c.2812G>A (p.Asp938Asn)
c.2161G>A (p.Asp721Asn)
c.1765G>A (p.Asp589Asn)
c.1507G>A (p.Asp503Asn)
10g.75028674G>CCA377292286DUSP29,KAT6Bc.3850G>C (p.Asp1284His)
c.3301G>C (p.Asp1101His)
c.2974G>C (p.Asp992His)
c.2785G>C (p.Asp929His)
n.577-2080C>G
c.*3622-2080C>G (n.*3622-2080C>G)
c.3688G>C (p.Asp1230His)
c.2812G>C (p.Asp938His)
c.2161G>C (p.Asp721His)
c.1765G>C (p.Asp589His)
c.1507G>C (p.Asp503His)
10g.75028674G>TCA377292288DUSP29,KAT6Bc.3850G>T (p.Asp1284Tyr)
c.3301G>T (p.Asp1101Tyr)
c.2974G>T (p.Asp992Tyr)
c.2785G>T (p.Asp929Tyr)
n.577-2080C>A
c.*3622-2080C>A (n.*3622-2080C>A)
c.3688G>T (p.Asp1230Tyr)
c.2812G>T (p.Asp938Tyr)
c.2161G>T (p.Asp721Tyr)
c.1765G>T (p.Asp589Tyr)
c.1507G>T (p.Asp503Tyr)
 gnomAD v4
10g.75028675_75028682delCA658797448DUSP29,KAT6Bc.3851_3858del (p.Asp1284GlyfsTer22)
c.3302_3309del (p.Asp1101GlyfsTer22)
c.2975_2982del (p.Asp992GlyfsTer22)
c.2786_2793del (p.Asp929GlyfsTer22)
n.577-2087_577-2080del
c.*3622-2087_*3622-2080del (n.*3622-2087_*3622-2080del)
c.3689_3696del (p.Asp1230GlyfsTer22)
c.2813_2820del (p.Asp938GlyfsTer22)
c.2162_2169del (p.Asp721GlyfsTer22)
c.1766_1773del (p.Asp589GlyfsTer22)
c.1508_1515del (p.Asp503GlyfsTer22)
 ClinVar dbSNP
10g.75028675A>CCA377292292DUSP29,KAT6Bc.3851A>C (p.Asp1284Ala)
c.3302A>C (p.Asp1101Ala)
c.2975A>C (p.Asp992Ala)
c.2786A>C (p.Asp929Ala)
n.577-2081T>G
c.*3622-2081T>G (n.*3622-2081T>G)
c.3689A>C (p.Asp1230Ala)
c.2813A>C (p.Asp938Ala)
c.2162A>C (p.Asp721Ala)
c.1766A>C (p.Asp589Ala)
c.1508A>C (p.Asp503Ala)
10g.75028675A>GCA377292295DUSP29,KAT6Bc.3851A>G (p.Asp1284Gly)
c.3302A>G (p.Asp1101Gly)
c.2975A>G (p.Asp992Gly)
c.2786A>G (p.Asp929Gly)
n.577-2081T>C
c.*3622-2081T>C (n.*3622-2081T>C)
c.3689A>G (p.Asp1230Gly)
c.2813A>G (p.Asp938Gly)
c.2162A>G (p.Asp721Gly)
c.1766A>G (p.Asp589Gly)
c.1508A>G (p.Asp503Gly)
10g.75028675A>TCA377292297DUSP29,KAT6Bc.3851A>T (p.Asp1284Val)
c.3302A>T (p.Asp1101Val)
c.2975A>T (p.Asp992Val)
c.2786A>T (p.Asp929Val)
n.577-2081T>A
c.*3622-2081T>A (n.*3622-2081T>A)
c.3689A>T (p.Asp1230Val)
c.2813A>T (p.Asp938Val)
c.2162A>T (p.Asp721Val)
c.1766A>T (p.Asp589Val)
c.1508A>T (p.Asp503Val)
 gnomAD v4
10g.75028676C>ACA377292301DUSP29,KAT6Bc.3852C>A (p.Asp1284Glu)
c.3303C>A (p.Asp1101Glu)
c.2976C>A (p.Asp992Glu)
c.2787C>A (p.Asp929Glu)
n.577-2082G>T
c.*3622-2082G>T (n.*3622-2082G>T)
c.3690C>A (p.Asp1230Glu)
c.2814C>A (p.Asp938Glu)
c.2163C>A (p.Asp721Glu)
c.1767C>A (p.Asp589Glu)
c.1509C>A (p.Asp503Glu)
10g.75028676C=CA1920306426DUSP29,KAT6Bc.3852C= (p.Asp1284=)
c.3303C= (p.Asp1101=)
c.2976C= (p.Asp992=)
c.2787C= (p.Asp929=)
n.577-2082G=
c.*3622-2082G= (n.*3622-2082G=)
c.3690C= (p.Asp1230=)
c.2814C= (p.Asp938=)
c.2163C= (p.Asp721=)
c.1767C= (p.Asp589=)
c.1509C= (p.Asp503=)
10g.75028676C>GCA377292304DUSP29,KAT6Bc.3852C>G (p.Asp1284Glu)
c.3303C>G (p.Asp1101Glu)
c.2976C>G (p.Asp992Glu)
c.2787C>G (p.Asp929Glu)
n.577-2082G>C
c.*3622-2082G>C (n.*3622-2082G>C)
c.3690C>G (p.Asp1230Glu)
c.2814C>G (p.Asp938Glu)
c.2163C>G (p.Asp721Glu)
c.1767C>G (p.Asp589Glu)
c.1509C>G (p.Asp503Glu)
 gnomAD v4
10g.75028676C>TCA5564917DUSP29,KAT6Bc.3852C>T (p.Asp1284=)
c.3303C>T (p.Asp1101=)
c.2976C>T (p.Asp992=)
c.2787C>T (p.Asp929=)
n.577-2082G>A
c.*3622-2082G>A (n.*3622-2082G>A)
c.3690C>T (p.Asp1230=)
c.2814C>T (p.Asp938=)
c.2163C>T (p.Asp721=)
c.1767C>T (p.Asp589=)
c.1509C>T (p.Asp503=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.75028677G>ACA377292308DUSP29,KAT6Bc.3853G>A (p.Glu1285Lys)
c.3304G>A (p.Glu1102Lys)
c.2977G>A (p.Glu993Lys)
c.2788G>A (p.Glu930Lys)
n.577-2083C>T
c.*3622-2083C>T (n.*3622-2083C>T)
c.3691G>A (p.Glu1231Lys)
c.2815G>A (p.Glu939Lys)
c.2164G>A (p.Glu722Lys)
c.1768G>A (p.Glu590Lys)
c.1510G>A (p.Glu504Lys)
 dbSNP gnomAD v2 gnomAD v4
10g.75028677G>CCA377292310DUSP29,KAT6Bc.3853G>C (p.Glu1285Gln)
c.3304G>C (p.Glu1102Gln)
c.2977G>C (p.Glu993Gln)
c.2788G>C (p.Glu930Gln)
n.577-2083C>G
c.*3622-2083C>G (n.*3622-2083C>G)
c.3691G>C (p.Glu1231Gln)
c.2815G>C (p.Glu939Gln)
c.2164G>C (p.Glu722Gln)
c.1768G>C (p.Glu590Gln)
c.1510G>C (p.Glu504Gln)
10g.75028677G=CA1920306427DUSP29,KAT6Bc.3853G= (p.Glu1285=)
c.3304G= (p.Glu1102=)
c.2977G= (p.Glu993=)
c.2788G= (p.Glu930=)
n.577-2083C=
c.*3622-2083C= (n.*3622-2083C=)
c.3691G= (p.Glu1231=)
c.2815G= (p.Glu939=)
c.2164G= (p.Glu722=)
c.1768G= (p.Glu590=)
c.1510G= (p.Glu504=)
10g.75028677G>TCA377292312DUSP29,KAT6Bc.3853G>T (p.Glu1285Ter)
c.3304G>T (p.Glu1102Ter)
c.2977G>T (p.Glu993Ter)
c.2788G>T (p.Glu930Ter)
n.577-2083C>A
c.*3622-2083C>A (n.*3622-2083C>A)
c.3691G>T (p.Glu1231Ter)
c.2815G>T (p.Glu939Ter)
c.2164G>T (p.Glu722Ter)
c.1768G>T (p.Glu590Ter)
c.1510G>T (p.Glu504Ter)
10g.75028678A>CCA377292320DUSP29,KAT6Bc.3854A>C (p.Glu1285Ala)
c.3305A>C (p.Glu1102Ala)
c.2978A>C (p.Glu993Ala)
c.2789A>C (p.Glu930Ala)
n.577-2084T>G
c.*3622-2084T>G (n.*3622-2084T>G)
c.3692A>C (p.Glu1231Ala)
c.2816A>C (p.Glu939Ala)
c.2165A>C (p.Glu722Ala)
c.1769A>C (p.Glu590Ala)
c.1511A>C (p.Glu504Ala)
10g.75028678A>GCA377292322DUSP29,KAT6Bc.3854A>G (p.Glu1285Gly)
c.3305A>G (p.Glu1102Gly)
c.2978A>G (p.Glu993Gly)
c.2789A>G (p.Glu930Gly)
n.577-2084T>C
c.*3622-2084T>C (n.*3622-2084T>C)
c.3692A>G (p.Glu1231Gly)
c.2816A>G (p.Glu939Gly)
c.2165A>G (p.Glu722Gly)
c.1769A>G (p.Glu590Gly)
c.1511A>G (p.Glu504Gly)
10g.75028678A>TCA377292318DUSP29,KAT6Bc.3854A>T (p.Glu1285Val)
c.3305A>T (p.Glu1102Val)
c.2978A>T (p.Glu993Val)
c.2789A>T (p.Glu930Val)
n.577-2084T>A
c.*3622-2084T>A (n.*3622-2084T>A)
c.3692A>T (p.Glu1231Val)
c.2816A>T (p.Glu939Val)
c.2165A>T (p.Glu722Val)
c.1769A>T (p.Glu590Val)
c.1511A>T (p.Glu504Val)
10g.75028679G>ACA5564918DUSP29,KAT6Bc.3855G>A (p.Glu1285=)
c.3306G>A (p.Glu1102=)
c.2979G>A (p.Glu993=)
c.2790G>A (p.Glu930=)
n.577-2085C>T
c.*3622-2085C>T (n.*3622-2085C>T)
c.3693G>A (p.Glu1231=)
c.2817G>A (p.Glu939=)
c.2166G>A (p.Glu722=)
c.1770G>A (p.Glu590=)
c.1512G>A (p.Glu504=)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.75028679G>CCA377292325DUSP29,KAT6Bc.3855G>C (p.Glu1285Asp)
c.3306G>C (p.Glu1102Asp)
c.2979G>C (p.Glu993Asp)
c.2790G>C (p.Glu930Asp)
n.577-2085C>G
c.*3622-2085C>G (n.*3622-2085C>G)
c.3693G>C (p.Glu1231Asp)
c.2817G>C (p.Glu939Asp)
c.2166G>C (p.Glu722Asp)
c.1770G>C (p.Glu590Asp)
c.1512G>C (p.Glu504Asp)
10g.75028679G=CA1920306428DUSP29,KAT6Bc.3855G= (p.Glu1285=)
c.3306G= (p.Glu1102=)
c.2979G= (p.Glu993=)
c.2790G= (p.Glu930=)
n.577-2085C=
c.*3622-2085C= (n.*3622-2085C=)
c.3693G= (p.Glu1231=)
c.2817G= (p.Glu939=)
c.2166G= (p.Glu722=)
c.1770G= (p.Glu590=)
c.1512G= (p.Glu504=)
10g.75028679G>TCA377292327DUSP29,KAT6Bc.3855G>T (p.Glu1285Asp)
c.3306G>T (p.Glu1102Asp)
c.2979G>T (p.Glu993Asp)
c.2790G>T (p.Glu930Asp)
n.577-2085C>A
c.*3622-2085C>A (n.*3622-2085C>A)
c.3693G>T (p.Glu1231Asp)
c.2817G>T (p.Glu939Asp)
c.2166G>T (p.Glu722Asp)
c.1770G>T (p.Glu590Asp)
c.1512G>T (p.Glu504Asp)
 ClinVar gnomAD v4
10g.75028680C>ACA377292330DUSP29,KAT6Bc.3856C>A (p.Gln1286Lys)
c.3307C>A (p.Gln1103Lys)
c.2980C>A (p.Gln994Lys)
c.2791C>A (p.Gln931Lys)
n.577-2086G>T
c.*3622-2086G>T (n.*3622-2086G>T)
c.3694C>A (p.Gln1232Lys)
c.2818C>A (p.Gln940Lys)
c.2167C>A (p.Gln723Lys)
c.1771C>A (p.Gln591Lys)
c.1513C>A (p.Gln505Lys)
10g.75028680C>GCA377292334DUSP29,KAT6Bc.3856C>G (p.Gln1286Glu)
c.3307C>G (p.Gln1103Glu)
c.2980C>G (p.Gln994Glu)
c.2791C>G (p.Gln931Glu)
n.577-2086G>C
c.*3622-2086G>C (n.*3622-2086G>C)
c.3694C>G (p.Gln1232Glu)
c.2818C>G (p.Gln940Glu)
c.2167C>G (p.Gln723Glu)
c.1771C>G (p.Gln591Glu)
c.1513C>G (p.Gln505Glu)
10g.75028680C>TCA377292337DUSP29,KAT6Bc.3856C>T (p.Gln1286Ter)
c.3307C>T (p.Gln1103Ter)
c.2980C>T (p.Gln994Ter)
c.2791C>T (p.Gln931Ter)
n.577-2086G>A
c.*3622-2086G>A (n.*3622-2086G>A)
c.3694C>T (p.Gln1232Ter)
c.2818C>T (p.Gln940Ter)
c.2167C>T (p.Gln723Ter)
c.1771C>T (p.Gln591Ter)
c.1513C>T (p.Gln505Ter)
 ClinVar
10g.75028681delCA2573053306DUSP29,KAT6Bc.3857del (p.Gln1286ArgfsTer2)
c.3308del (p.Gln1103ArgfsTer2)
c.2981del (p.Gln994ArgfsTer2)
c.2792del (p.Gln931ArgfsTer2)
n.577-2087del
c.*3622-2087del (n.*3622-2087del)
c.3695del (p.Gln1232ArgfsTer2)
c.2819del (p.Gln940ArgfsTer2)
c.2168del (p.Gln723ArgfsTer2)
c.1772del (p.Gln591ArgfsTer2)
c.1514del (p.Gln505ArgfsTer2)
 ClinVar dbSNP
10g.75028681A>CCA377292341DUSP29,KAT6Bc.3857A>C (p.Gln1286Pro)
c.3308A>C (p.Gln1103Pro)
c.2981A>C (p.Gln994Pro)
c.2792A>C (p.Gln931Pro)
n.577-2087T>G
c.*3622-2087T>G (n.*3622-2087T>G)
c.3695A>C (p.Gln1232Pro)
c.2819A>C (p.Gln940Pro)
c.2168A>C (p.Gln723Pro)
c.1772A>C (p.Gln591Pro)
c.1514A>C (p.Gln505Pro)
10g.75028681A>GCA377292346DUSP29,KAT6Bc.3857A>G (p.Gln1286Arg)
c.3308A>G (p.Gln1103Arg)
c.2981A>G (p.Gln994Arg)
c.2792A>G (p.Gln931Arg)
n.577-2087T>C
c.*3622-2087T>C (n.*3622-2087T>C)
c.3695A>G (p.Gln1232Arg)
c.2819A>G (p.Gln940Arg)
c.2168A>G (p.Gln723Arg)
c.1772A>G (p.Gln591Arg)
c.1514A>G (p.Gln505Arg)
10g.75028681A>TCA377292344DUSP29,KAT6Bc.3857A>T (p.Gln1286Leu)
c.3308A>T (p.Gln1103Leu)
c.2981A>T (p.Gln994Leu)
c.2792A>T (p.Gln931Leu)
n.577-2087T>A
c.*3622-2087T>A (n.*3622-2087T>A)
c.3695A>T (p.Gln1232Leu)
c.2819A>T (p.Gln940Leu)
c.2168A>T (p.Gln723Leu)
c.1772A>T (p.Gln591Leu)
c.1514A>T (p.Gln505Leu)
10g.75028682G>ACA470299563DUSP29,KAT6Bc.3858G>A (p.Gln1286=)
c.3309G>A (p.Gln1103=)
c.2982G>A (p.Gln994=)
c.2793G>A (p.Gln931=)
n.577-2088C>T
c.*3622-2088C>T (n.*3622-2088C>T)
c.3696G>A (p.Gln1232=)
c.2820G>A (p.Gln940=)
c.2169G>A (p.Gln723=)
c.1773G>A (p.Gln591=)
c.1515G>A (p.Gln505=)
 gnomAD v4
10g.75028682G>CCA377292350DUSP29,KAT6Bc.3858G>C (p.Gln1286His)
c.3309G>C (p.Gln1103His)
c.2982G>C (p.Gln994His)
c.2793G>C (p.Gln931His)
n.577-2088C>G
c.*3622-2088C>G (n.*3622-2088C>G)
c.3696G>C (p.Gln1232His)
c.2820G>C (p.Gln940His)
c.2169G>C (p.Gln723His)
c.1773G>C (p.Gln591His)
c.1515G>C (p.Gln505His)
10g.75028682G>TCA377292353DUSP29,KAT6Bc.3858G>T (p.Gln1286His)
c.3309G>T (p.Gln1103His)
c.2982G>T (p.Gln994His)
c.2793G>T (p.Gln931His)
n.577-2088C>A
c.*3622-2088C>A (n.*3622-2088C>A)
c.3696G>T (p.Gln1232His)
c.2820G>T (p.Gln940His)
c.2169G>T (p.Gln723His)
c.1773G>T (p.Gln591His)
c.1515G>T (p.Gln505His)
10g.75028683G>ACA377292357DUSP29,KAT6Bc.3859G>A (p.Val1287Ile)
c.3310G>A (p.Val1104Ile)
c.2983G>A (p.Val995Ile)
c.2794G>A (p.Val932Ile)
n.577-2089C>T
c.*3622-2089C>T (n.*3622-2089C>T)
c.3697G>A (p.Val1233Ile)
c.2821G>A (p.Val941Ile)
c.2170G>A (p.Val724Ile)
c.1774G>A (p.Val592Ile)
c.1516G>A (p.Val506Ile)
 gnomAD v4
10g.75028683G>CCA377292360DUSP29,KAT6Bc.3859G>C (p.Val1287Leu)
c.3310G>C (p.Val1104Leu)
c.2983G>C (p.Val995Leu)
c.2794G>C (p.Val932Leu)
n.577-2089C>G
c.*3622-2089C>G (n.*3622-2089C>G)
c.3697G>C (p.Val1233Leu)
c.2821G>C (p.Val941Leu)
c.2170G>C (p.Val724Leu)
c.1774G>C (p.Val592Leu)
c.1516G>C (p.Val506Leu)
10g.75028683G>TCA377292362DUSP29,KAT6Bc.3859G>T (p.Val1287Leu)
c.3310G>T (p.Val1104Leu)
c.2983G>T (p.Val995Leu)
c.2794G>T (p.Val932Leu)
n.577-2089C>A
c.*3622-2089C>A (n.*3622-2089C>A)
c.3697G>T (p.Val1233Leu)
c.2821G>T (p.Val941Leu)
c.2170G>T (p.Val724Leu)
c.1774G>T (p.Val592Leu)
c.1516G>T (p.Val506Leu)
10g.75028684T>ACA377292370DUSP29,KAT6Bc.3860T>A (p.Val1287Glu)
c.3311T>A (p.Val1104Glu)
c.2984T>A (p.Val995Glu)
c.2795T>A (p.Val932Glu)
n.577-2090A>T
c.*3622-2090A>T (n.*3622-2090A>T)
c.3698T>A (p.Val1233Glu)
c.2822T>A (p.Val941Glu)
c.2171T>A (p.Val724Glu)
c.1775T>A (p.Val592Glu)
c.1517T>A (p.Val506Glu)
10g.75028684T>CCA377292372DUSP29,KAT6Bc.3860T>C (p.Val1287Ala)
c.3311T>C (p.Val1104Ala)
c.2984T>C (p.Val995Ala)
c.2795T>C (p.Val932Ala)
n.577-2090A>G
c.*3622-2090A>G (n.*3622-2090A>G)
c.3698T>C (p.Val1233Ala)
c.2822T>C (p.Val941Ala)
c.2171T>C (p.Val724Ala)
c.1775T>C (p.Val592Ala)
c.1517T>C (p.Val506Ala)
10g.75028684T>GCA377292367DUSP29,KAT6Bc.3860T>G (p.Val1287Gly)
c.3311T>G (p.Val1104Gly)
c.2984T>G (p.Val995Gly)
c.2795T>G (p.Val932Gly)
n.577-2090A>C
c.*3622-2090A>C (n.*3622-2090A>C)
c.3698T>G (p.Val1233Gly)
c.2822T>G (p.Val941Gly)
c.2171T>G (p.Val724Gly)
c.1775T>G (p.Val592Gly)
c.1517T>G (p.Val506Gly)
10g.75028684_75028687delCA2695212198DUSP29,KAT6Bc.3860_3863del (p.Val1287GlufsTer?)
c.3311_3314del (p.Val1104GlufsTer?)
c.2984_2987del (p.Val995GlufsTer?)
c.2795_2798del (p.Val932GlufsTer?)
n.577-2093_577-2090del
c.*3622-2093_*3622-2090del (n.*3622-2093_*3622-2090del)
c.3698_3701del (p.Val1233GlufsTer?)
c.2822_2825del (p.Val941GlufsTer?)
c.2171_2174del (p.Val724GlufsTer?)
c.1775_1778del (p.Val592GlufsTer?)
c.1517_1520del (p.Val506GlufsTer?)
10g.75028685A>CCA470299566DUSP29,KAT6Bc.3861A>C (p.Val1287=)
c.3312A>C (p.Val1104=)
c.2985A>C (p.Val995=)
c.2796A>C (p.Val932=)
n.577-2091T>G
c.*3622-2091T>G (n.*3622-2091T>G)
c.3699A>C (p.Val1233=)
c.2823A>C (p.Val941=)
c.2172A>C (p.Val724=)
c.1776A>C (p.Val592=)
c.1518A>C (p.Val506=)
10g.75028685A>GCA470299565DUSP29,KAT6Bc.3861A>G (p.Val1287=)
c.3312A>G (p.Val1104=)
c.2985A>G (p.Val995=)
c.2796A>G (p.Val932=)
n.577-2091T>C
c.*3622-2091T>C (n.*3622-2091T>C)
c.3699A>G (p.Val1233=)
c.2823A>G (p.Val941=)
c.2172A>G (p.Val724=)
c.1776A>G (p.Val592=)
c.1518A>G (p.Val506=)
10g.75028685A>TCA470299564DUSP29,KAT6Bc.3861A>T (p.Val1287=)
c.3312A>T (p.Val1104=)
c.2985A>T (p.Val995=)
c.2796A>T (p.Val932=)
n.577-2091T>A
c.*3622-2091T>A (n.*3622-2091T>A)
c.3699A>T (p.Val1233=)
c.2823A>T (p.Val941=)
c.2172A>T (p.Val724=)
c.1776A>T (p.Val592=)
c.1518A>T (p.Val506=)
10g.75028686A>CCA377292377DUSP29,KAT6Bc.3862A>C (p.Thr1288Pro)
c.3313A>C (p.Thr1105Pro)
c.2986A>C (p.Thr996Pro)
c.2797A>C (p.Thr933Pro)
n.577-2092T>G
c.*3622-2092T>G (n.*3622-2092T>G)
c.3700A>C (p.Thr1234Pro)
c.2824A>C (p.Thr942Pro)
c.2173A>C (p.Thr725Pro)
c.1777A>C (p.Thr593Pro)
c.1519A>C (p.Thr507Pro)
10g.75028686A>GCA377292384DUSP29,KAT6Bc.3862A>G (p.Thr1288Ala)
c.3313A>G (p.Thr1105Ala)
c.2986A>G (p.Thr996Ala)
c.2797A>G (p.Thr933Ala)
n.577-2092T>C
c.*3622-2092T>C (n.*3622-2092T>C)
c.3700A>G (p.Thr1234Ala)
c.2824A>G (p.Thr942Ala)
c.2173A>G (p.Thr725Ala)
c.1777A>G (p.Thr593Ala)
c.1519A>G (p.Thr507Ala)
10g.75028686A>TCA377292380DUSP29,KAT6Bc.3862A>T (p.Thr1288Ser)
c.3313A>T (p.Thr1105Ser)
c.2986A>T (p.Thr996Ser)
c.2797A>T (p.Thr933Ser)
n.577-2092T>A
c.*3622-2092T>A (n.*3622-2092T>A)
c.3700A>T (p.Thr1234Ser)
c.2824A>T (p.Thr942Ser)
c.2173A>T (p.Thr725Ser)
c.1777A>T (p.Thr593Ser)
c.1519A>T (p.Thr507Ser)
10g.75028687C>ACA377292388DUSP29,KAT6Bc.3863C>A (p.Thr1288Lys)
c.3314C>A (p.Thr1105Lys)
c.2987C>A (p.Thr996Lys)
c.2798C>A (p.Thr933Lys)
n.577-2093G>T
c.*3622-2093G>T (n.*3622-2093G>T)
c.3701C>A (p.Thr1234Lys)
c.2825C>A (p.Thr942Lys)
c.2174C>A (p.Thr725Lys)
c.1778C>A (p.Thr593Lys)
c.1520C>A (p.Thr507Lys)
 gnomAD v4
10g.75028687C>GCA377292392DUSP29,KAT6Bc.3863C>G (p.Thr1288Arg)
c.3314C>G (p.Thr1105Arg)
c.2987C>G (p.Thr996Arg)
c.2798C>G (p.Thr933Arg)
n.577-2093G>C
c.*3622-2093G>C (n.*3622-2093G>C)
c.3701C>G (p.Thr1234Arg)
c.2825C>G (p.Thr942Arg)
c.2174C>G (p.Thr725Arg)
c.1778C>G (p.Thr593Arg)
c.1520C>G (p.Thr507Arg)
10g.75028687C>TCA377292390DUSP29,KAT6Bc.3863C>T (p.Thr1288Ile)
c.3314C>T (p.Thr1105Ile)
c.2987C>T (p.Thr996Ile)
c.2798C>T (p.Thr933Ile)
n.577-2093G>A
c.*3622-2093G>A (n.*3622-2093G>A)
c.3701C>T (p.Thr1234Ile)
c.2825C>T (p.Thr942Ile)
c.2174C>T (p.Thr725Ile)
c.1778C>T (p.Thr593Ile)
c.1520C>T (p.Thr507Ile)
 gnomAD v4
10g.75028688A>CCA470299567DUSP29,KAT6Bc.3864A>C (p.Thr1288=)
c.3315A>C (p.Thr1105=)
c.2988A>C (p.Thr996=)
c.2799A>C (p.Thr933=)
n.577-2094T>G
c.*3622-2094T>G (n.*3622-2094T>G)
c.3702A>C (p.Thr1234=)
c.2826A>C (p.Thr942=)
c.2175A>C (p.Thr725=)
c.1779A>C (p.Thr593=)
c.1521A>C (p.Thr507=)
10g.75028688A>GCA470299568DUSP29,KAT6Bc.3864A>G (p.Thr1288=)
c.3315A>G (p.Thr1105=)
c.2988A>G (p.Thr996=)
c.2799A>G (p.Thr933=)
n.577-2094T>C
c.*3622-2094T>C (n.*3622-2094T>C)
c.3702A>G (p.Thr1234=)
c.2826A>G (p.Thr942=)
c.2175A>G (p.Thr725=)
c.1779A>G (p.Thr593=)
c.1521A>G (p.Thr507=)
10g.75028688A>TCA470299569DUSP29,KAT6Bc.3864A>T (p.Thr1288=)
c.3315A>T (p.Thr1105=)
c.2988A>T (p.Thr996=)
c.2799A>T (p.Thr933=)
n.577-2094T>A
c.*3622-2094T>A (n.*3622-2094T>A)
c.3702A>T (p.Thr1234=)
c.2826A>T (p.Thr942=)
c.2175A>T (p.Thr725=)
c.1779A>T (p.Thr593=)
c.1521A>T (p.Thr507=)
 gnomAD v4
10g.75028689G>ACA377292397DUSP29,KAT6Bc.3865G>A (p.Val1289Met)
c.3316G>A (p.Val1106Met)
c.2989G>A (p.Val997Met)
c.2800G>A (p.Val934Met)
n.577-2095C>T
c.*3622-2095C>T (n.*3622-2095C>T)
c.3703G>A (p.Val1235Met)
c.2827G>A (p.Val943Met)
c.2176G>A (p.Val726Met)
c.1780G>A (p.Val594Met)
c.1522G>A (p.Val508Met)
 gnomAD v4
10g.75028689G>CCA377292399DUSP29,KAT6Bc.3865G>C (p.Val1289Leu)
c.3316G>C (p.Val1106Leu)
c.2989G>C (p.Val997Leu)
c.2800G>C (p.Val934Leu)
n.577-2095C>G
c.*3622-2095C>G (n.*3622-2095C>G)
c.3703G>C (p.Val1235Leu)
c.2827G>C (p.Val943Leu)
c.2176G>C (p.Val726Leu)
c.1780G>C (p.Val594Leu)
c.1522G>C (p.Val508Leu)
10g.75028689G>TCA377292401DUSP29,KAT6Bc.3865G>T (p.Val1289Leu)
c.3316G>T (p.Val1106Leu)
c.2989G>T (p.Val997Leu)
c.2800G>T (p.Val934Leu)
n.577-2095C>A
c.*3622-2095C>A (n.*3622-2095C>A)
c.3703G>T (p.Val1235Leu)
c.2827G>T (p.Val943Leu)
c.2176G>T (p.Val726Leu)
c.1780G>T (p.Val594Leu)
c.1522G>T (p.Val508Leu)

Number of alleles fetched