Chr Mutation (hg38) CAid Gene Transcript Linkouts
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.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)

Number of alleles fetched