Chr Mutation (hg38) CAid Gene Transcript Linkouts
10g.75030025_75030034dupCA232614DUSP29,KAT6Bc.5201_5210dup (p.Gln1737HisfsTer?)
c.4652_4661dup (p.Gln1554HisfsTer?)
c.4325_4334dup (p.Gln1445HisfsTer?)
n.577-3431_577-3422dup
c.*3622-3431_*3622-3422dup (n.*3622-3431_*3622-3422dup)
c.5039_5048dup (p.Gln1683HisfsTer?)
c.4163_4172dup (p.Gln1391HisfsTer?)
c.3512_3521dup (p.Gln1174HisfsTer?)
c.3116_3125dup (p.Gln1042HisfsTer?)
c.2858_2867dup (p.Gln956HisfsTer?)
c.4136_4145dup (p.Gln1382HisfsTer?)
 ClinVar dbSNP
10g.75030025_75030034delCA2609745628DUSP29,KAT6Bc.5201_5210del (p.Met1734LysfsTer?)
c.4652_4661del (p.Met1551LysfsTer?)
c.4325_4334del (p.Met1442LysfsTer?)
n.577-3431_577-3422del
c.*3622-3431_*3622-3422del (n.*3622-3431_*3622-3422del)
c.5039_5048del (p.Met1680LysfsTer?)
c.4163_4172del (p.Met1388LysfsTer?)
c.3512_3521del (p.Met1171LysfsTer?)
c.3116_3125del (p.Met1039LysfsTer?)
c.2858_2867del (p.Met953LysfsTer?)
c.4136_4145del (p.Met1379LysfsTer?)
 gnomAD v4
10g.75030024_75030065dupCA2580082035DUSP29,KAT6Bc.5200_5241dup (p.Ser1747_Val1748insMetLeuGlnGlnThrSerIleSerSerProProThrCysSer)
c.4651_4692dup (p.Ser1564_Val1565insMetLeuGlnGlnThrSerIleSerSerProProThrCysSer)
c.4324_4365dup (p.Ser1455_Val1456insMetLeuGlnGlnThrSerIleSerSerProProThrCysSer)
n.577-3464_577-3423dup
c.*3622-3464_*3622-3423dup (n.*3622-3464_*3622-3423dup)
c.5038_5079dup (p.Ser1693_Val1694insMetLeuGlnGlnThrSerIleSerSerProProThrCysSer)
c.4162_4203dup (p.Ser1401_Val1402insMetLeuGlnGlnThrSerIleSerSerProProThrCysSer)
c.3511_3552dup (p.Ser1184_Val1185insMetLeuGlnGlnThrSerIleSerSerProProThrCysSer)
c.3115_3156dup (p.Ser1052_Val1053insMetLeuGlnGlnThrSerIleSerSerProProThrCysSer)
c.2857_2898dup (p.Ser966_Val967insMetLeuGlnGlnThrSerIleSerSerProProThrCysSer)
c.4135_4176dup (p.Ser1392_Val1393insMetLeuGlnGlnThrSerIleSerSerProProThrCysSer)
 ClinVar
10g.75030024A=CA1920306908DUSP29,KAT6Bc.5200A= (p.Met1734=)
c.4651A= (p.Met1551=)
c.4324A= (p.Met1442=)
n.577-3430T=
c.*3622-3430T= (n.*3622-3430T=)
c.5038A= (p.Met1680=)
c.4162A= (p.Met1388=)
c.3511A= (p.Met1171=)
c.3115A= (p.Met1039=)
c.2857A= (p.Met953=)
c.4135A= (p.Met1379=)
10g.75030024A>CCA377300324DUSP29,KAT6Bc.5200A>C (p.Met1734Leu)
c.4651A>C (p.Met1551Leu)
c.4324A>C (p.Met1442Leu)
n.577-3430T>G
c.*3622-3430T>G (n.*3622-3430T>G)
c.5038A>C (p.Met1680Leu)
c.4162A>C (p.Met1388Leu)
c.3511A>C (p.Met1171Leu)
c.3115A>C (p.Met1039Leu)
c.2857A>C (p.Met953Leu)
c.4135A>C (p.Met1379Leu)
10g.75030024A>GCA5565150DUSP29,KAT6Bc.5200A>G (p.Met1734Val)
c.4651A>G (p.Met1551Val)
c.4324A>G (p.Met1442Val)
n.577-3430T>C
c.*3622-3430T>C (n.*3622-3430T>C)
c.5038A>G (p.Met1680Val)
c.4162A>G (p.Met1388Val)
c.3511A>G (p.Met1171Val)
c.3115A>G (p.Met1039Val)
c.2857A>G (p.Met953Val)
c.4135A>G (p.Met1379Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.75030024A>TCA377300326DUSP29,KAT6Bc.5200A>T (p.Met1734Leu)
c.4651A>T (p.Met1551Leu)
c.4324A>T (p.Met1442Leu)
n.577-3430T>A
c.*3622-3430T>A (n.*3622-3430T>A)
c.5038A>T (p.Met1680Leu)
c.4162A>T (p.Met1388Leu)
c.3511A>T (p.Met1171Leu)
c.3115A>T (p.Met1039Leu)
c.2857A>T (p.Met953Leu)
c.4135A>T (p.Met1379Leu)
10g.75030025T>ACA377300329DUSP29,KAT6Bc.5201T>A (p.Met1734Lys)
c.4652T>A (p.Met1551Lys)
c.4325T>A (p.Met1442Lys)
n.577-3431A>T
c.*3622-3431A>T (n.*3622-3431A>T)
c.5039T>A (p.Met1680Lys)
c.4163T>A (p.Met1388Lys)
c.3512T>A (p.Met1171Lys)
c.3116T>A (p.Met1039Lys)
c.2858T>A (p.Met953Lys)
c.4136T>A (p.Met1379Lys)
10g.75030025T>CCA377300328DUSP29,KAT6Bc.5201T>C (p.Met1734Thr)
c.4652T>C (p.Met1551Thr)
c.4325T>C (p.Met1442Thr)
n.577-3431A>G
c.*3622-3431A>G (n.*3622-3431A>G)
c.5039T>C (p.Met1680Thr)
c.4163T>C (p.Met1388Thr)
c.3512T>C (p.Met1171Thr)
c.3116T>C (p.Met1039Thr)
c.2858T>C (p.Met953Thr)
c.4136T>C (p.Met1379Thr)
10g.75030025T>GCA377300331DUSP29,KAT6Bc.5201T>G (p.Met1734Arg)
c.4652T>G (p.Met1551Arg)
c.4325T>G (p.Met1442Arg)
n.577-3431A>C
c.*3622-3431A>C (n.*3622-3431A>C)
c.5039T>G (p.Met1680Arg)
c.4163T>G (p.Met1388Arg)
c.3512T>G (p.Met1171Arg)
c.3116T>G (p.Met1039Arg)
c.2858T>G (p.Met953Arg)
c.4136T>G (p.Met1379Arg)
10g.75030026G>ACA209710429DUSP29,KAT6Bc.5202G>A (p.Met1734Ile)
c.4653G>A (p.Met1551Ile)
c.4326G>A (p.Met1442Ile)
n.577-3432C>T
c.*3622-3432C>T (n.*3622-3432C>T)
c.5040G>A (p.Met1680Ile)
c.4164G>A (p.Met1388Ile)
c.3513G>A (p.Met1171Ile)
c.3117G>A (p.Met1039Ile)
c.2859G>A (p.Met953Ile)
c.4137G>A (p.Met1379Ile)
 dbSNP
10g.75030026G>CCA377300337DUSP29,KAT6Bc.5202G>C (p.Met1734Ile)
c.4653G>C (p.Met1551Ile)
c.4326G>C (p.Met1442Ile)
n.577-3432C>G
c.*3622-3432C>G (n.*3622-3432C>G)
c.5040G>C (p.Met1680Ile)
c.4164G>C (p.Met1388Ile)
c.3513G>C (p.Met1171Ile)
c.3117G>C (p.Met1039Ile)
c.2859G>C (p.Met953Ile)
c.4137G>C (p.Met1379Ile)
10g.75030026G=CA1920306909DUSP29,KAT6Bc.5202G= (p.Met1734=)
c.4653G= (p.Met1551=)
c.4326G= (p.Met1442=)
n.577-3432C=
c.*3622-3432C= (n.*3622-3432C=)
c.5040G= (p.Met1680=)
c.4164G= (p.Met1388=)
c.3513G= (p.Met1171=)
c.3117G= (p.Met1039=)
c.2859G= (p.Met953=)
c.4137G= (p.Met1379=)
10g.75030026G>TCA377300335DUSP29,KAT6Bc.5202G>T (p.Met1734Ile)
c.4653G>T (p.Met1551Ile)
c.4326G>T (p.Met1442Ile)
n.577-3432C>A
c.*3622-3432C>A (n.*3622-3432C>A)
c.5040G>T (p.Met1680Ile)
c.4164G>T (p.Met1388Ile)
c.3513G>T (p.Met1171Ile)
c.3117G>T (p.Met1039Ile)
c.2859G>T (p.Met953Ile)
c.4137G>T (p.Met1379Ile)
 gnomAD v4
10g.75030027C>ACA377300341DUSP29,KAT6Bc.5203C>A (p.Leu1735Met)
c.4654C>A (p.Leu1552Met)
c.4327C>A (p.Leu1443Met)
n.577-3433G>T
c.*3622-3433G>T (n.*3622-3433G>T)
c.5041C>A (p.Leu1681Met)
c.4165C>A (p.Leu1389Met)
c.3514C>A (p.Leu1172Met)
c.3118C>A (p.Leu1040Met)
c.2860C>A (p.Leu954Met)
c.4138C>A (p.Leu1380Met)
10g.75030027C=CA1920306910DUSP29,KAT6Bc.5203C= (p.Leu1735=)
c.4654C= (p.Leu1552=)
c.4327C= (p.Leu1443=)
n.577-3433G=
c.*3622-3433G= (n.*3622-3433G=)
c.5041C= (p.Leu1681=)
c.4165C= (p.Leu1389=)
c.3514C= (p.Leu1172=)
c.3118C= (p.Leu1040=)
c.2860C= (p.Leu954=)
c.4138C= (p.Leu1380=)
10g.75030027C>GCA377300343DUSP29,KAT6Bc.5203C>G (p.Leu1735Val)
c.4654C>G (p.Leu1552Val)
c.4327C>G (p.Leu1443Val)
n.577-3433G>C
c.*3622-3433G>C (n.*3622-3433G>C)
c.5041C>G (p.Leu1681Val)
c.4165C>G (p.Leu1389Val)
c.3514C>G (p.Leu1172Val)
c.3118C>G (p.Leu1040Val)
c.2860C>G (p.Leu954Val)
c.4138C>G (p.Leu1380Val)
10g.75030027C>TCA209710432DUSP29,KAT6Bc.5203C>T (p.Leu1735=)
c.4654C>T (p.Leu1552=)
c.4327C>T (p.Leu1443=)
n.577-3433G>A
c.*3622-3433G>A (n.*3622-3433G>A)
c.5041C>T (p.Leu1681=)
c.4165C>T (p.Leu1389=)
c.3514C>T (p.Leu1172=)
c.3118C>T (p.Leu1040=)
c.2860C>T (p.Leu954=)
c.4138C>T (p.Leu1380=)
 dbSNP
10g.75030028T>ACA377300346DUSP29,KAT6Bc.5204T>A (p.Leu1735Gln)
c.4655T>A (p.Leu1552Gln)
c.4328T>A (p.Leu1443Gln)
n.577-3434A>T
c.*3622-3434A>T (n.*3622-3434A>T)
c.5042T>A (p.Leu1681Gln)
c.4166T>A (p.Leu1389Gln)
c.3515T>A (p.Leu1172Gln)
c.3119T>A (p.Leu1040Gln)
c.2861T>A (p.Leu954Gln)
c.4139T>A (p.Leu1380Gln)
10g.75030028T>CCA5565151DUSP29,KAT6Bc.5204T>C (p.Leu1735Pro)
c.4655T>C (p.Leu1552Pro)
c.4328T>C (p.Leu1443Pro)
n.577-3434A>G
c.*3622-3434A>G (n.*3622-3434A>G)
c.5042T>C (p.Leu1681Pro)
c.4166T>C (p.Leu1389Pro)
c.3515T>C (p.Leu1172Pro)
c.3119T>C (p.Leu1040Pro)
c.2861T>C (p.Leu954Pro)
c.4139T>C (p.Leu1380Pro)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.75030028T>GCA377300349DUSP29,KAT6Bc.5204T>G (p.Leu1735Arg)
c.4655T>G (p.Leu1552Arg)
c.4328T>G (p.Leu1443Arg)
n.577-3434A>C
c.*3622-3434A>C (n.*3622-3434A>C)
c.5042T>G (p.Leu1681Arg)
c.4166T>G (p.Leu1389Arg)
c.3515T>G (p.Leu1172Arg)
c.3119T>G (p.Leu1040Arg)
c.2861T>G (p.Leu954Arg)
c.4139T>G (p.Leu1380Arg)
 dbSNP
10g.75030028T=CA1920306911DUSP29,KAT6Bc.5204T= (p.Leu1735=)
c.4655T= (p.Leu1552=)
c.4328T= (p.Leu1443=)
n.577-3434A=
c.*3622-3434A= (n.*3622-3434A=)
c.5042T= (p.Leu1681=)
c.4166T= (p.Leu1389=)
c.3515T= (p.Leu1172=)
c.3119T= (p.Leu1040=)
c.2861T= (p.Leu954=)
c.4139T= (p.Leu1380=)
10g.75030029G>ACA470300684DUSP29,KAT6Bc.5205G>A (p.Leu1735=)
c.4656G>A (p.Leu1552=)
c.4329G>A (p.Leu1443=)
n.577-3435C>T
c.*3622-3435C>T (n.*3622-3435C>T)
c.5043G>A (p.Leu1681=)
c.4167G>A (p.Leu1389=)
c.3516G>A (p.Leu1172=)
c.3120G>A (p.Leu1040=)
c.2862G>A (p.Leu954=)
c.4140G>A (p.Leu1380=)
10g.75030029G>CCA470300685DUSP29,KAT6Bc.5205G>C (p.Leu1735=)
c.4656G>C (p.Leu1552=)
c.4329G>C (p.Leu1443=)
n.577-3435C>G
c.*3622-3435C>G (n.*3622-3435C>G)
c.5043G>C (p.Leu1681=)
c.4167G>C (p.Leu1389=)
c.3516G>C (p.Leu1172=)
c.3120G>C (p.Leu1040=)
c.2862G>C (p.Leu954=)
c.4140G>C (p.Leu1380=)
10g.75030029G>TCA470300682DUSP29,KAT6Bc.5205G>T (p.Leu1735=)
c.4656G>T (p.Leu1552=)
c.4329G>T (p.Leu1443=)
n.577-3435C>A
c.*3622-3435C>A (n.*3622-3435C>A)
c.5043G>T (p.Leu1681=)
c.4167G>T (p.Leu1389=)
c.3516G>T (p.Leu1172=)
c.3120G>T (p.Leu1040=)
c.2862G>T (p.Leu954=)
c.4140G>T (p.Leu1380=)
10g.75030030C>ACA377300352DUSP29,KAT6Bc.5206C>A (p.Gln1736Lys)
c.4657C>A (p.Gln1553Lys)
c.4330C>A (p.Gln1444Lys)
n.577-3436G>T
c.*3622-3436G>T (n.*3622-3436G>T)
c.5044C>A (p.Gln1682Lys)
c.4168C>A (p.Gln1390Lys)
c.3517C>A (p.Gln1173Lys)
c.3121C>A (p.Gln1041Lys)
c.2863C>A (p.Gln955Lys)
c.4141C>A (p.Gln1381Lys)
10g.75030030C>GCA377300354DUSP29,KAT6Bc.5206C>G (p.Gln1736Glu)
c.4657C>G (p.Gln1553Glu)
c.4330C>G (p.Gln1444Glu)
n.577-3436G>C
c.*3622-3436G>C (n.*3622-3436G>C)
c.5044C>G (p.Gln1682Glu)
c.4168C>G (p.Gln1390Glu)
c.3517C>G (p.Gln1173Glu)
c.3121C>G (p.Gln1041Glu)
c.2863C>G (p.Gln955Glu)
c.4141C>G (p.Gln1381Glu)
10g.75030030C>TCA377300356DUSP29,KAT6Bc.5206C>T (p.Gln1736Ter)
c.4657C>T (p.Gln1553Ter)
c.4330C>T (p.Gln1444Ter)
n.577-3436G>A
c.*3622-3436G>A (n.*3622-3436G>A)
c.5044C>T (p.Gln1682Ter)
c.4168C>T (p.Gln1390Ter)
c.3517C>T (p.Gln1173Ter)
c.3121C>T (p.Gln1041Ter)
c.2863C>T (p.Gln955Ter)
c.4141C>T (p.Gln1381Ter)
10g.75030031A>CCA377300362DUSP29,KAT6Bc.5207A>C (p.Gln1736Pro)
c.4658A>C (p.Gln1553Pro)
c.4331A>C (p.Gln1444Pro)
n.577-3437T>G
c.*3622-3437T>G (n.*3622-3437T>G)
c.5045A>C (p.Gln1682Pro)
c.4169A>C (p.Gln1390Pro)
c.3518A>C (p.Gln1173Pro)
c.3122A>C (p.Gln1041Pro)
c.2864A>C (p.Gln955Pro)
c.4142A>C (p.Gln1381Pro)
10g.75030031A>GCA377300360DUSP29,KAT6Bc.5207A>G (p.Gln1736Arg)
c.4658A>G (p.Gln1553Arg)
c.4331A>G (p.Gln1444Arg)
n.577-3437T>C
c.*3622-3437T>C (n.*3622-3437T>C)
c.5045A>G (p.Gln1682Arg)
c.4169A>G (p.Gln1390Arg)
c.3518A>G (p.Gln1173Arg)
c.3122A>G (p.Gln1041Arg)
c.2864A>G (p.Gln955Arg)
c.4142A>G (p.Gln1381Arg)
10g.75030031A>TCA377300358DUSP29,KAT6Bc.5207A>T (p.Gln1736Leu)
c.4658A>T (p.Gln1553Leu)
c.4331A>T (p.Gln1444Leu)
n.577-3437T>A
c.*3622-3437T>A (n.*3622-3437T>A)
c.5045A>T (p.Gln1682Leu)
c.4169A>T (p.Gln1390Leu)
c.3518A>T (p.Gln1173Leu)
c.3122A>T (p.Gln1041Leu)
c.2864A>T (p.Gln955Leu)
c.4142A>T (p.Gln1381Leu)
10g.75030032G>ACA209710439DUSP29,KAT6Bc.5208G>A (p.Gln1736=)
c.4659G>A (p.Gln1553=)
c.4332G>A (p.Gln1444=)
n.577-3438C>T
c.*3622-3438C>T (n.*3622-3438C>T)
c.5046G>A (p.Gln1682=)
c.4170G>A (p.Gln1390=)
c.3519G>A (p.Gln1173=)
c.3123G>A (p.Gln1041=)
c.2865G>A (p.Gln955=)
c.4143G>A (p.Gln1381=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.75030032G>CCA377300364DUSP29,KAT6Bc.5208G>C (p.Gln1736His)
c.4659G>C (p.Gln1553His)
c.4332G>C (p.Gln1444His)
n.577-3438C>G
c.*3622-3438C>G (n.*3622-3438C>G)
c.5046G>C (p.Gln1682His)
c.4170G>C (p.Gln1390His)
c.3519G>C (p.Gln1173His)
c.3123G>C (p.Gln1041His)
c.2865G>C (p.Gln955His)
c.4143G>C (p.Gln1381His)
10g.75030032G=CA1920306912DUSP29,KAT6Bc.5208G= (p.Gln1736=)
c.4659G= (p.Gln1553=)
c.4332G= (p.Gln1444=)
n.577-3438C=
c.*3622-3438C= (n.*3622-3438C=)
c.5046G= (p.Gln1682=)
c.4170G= (p.Gln1390=)
c.3519G= (p.Gln1173=)
c.3123G= (p.Gln1041=)
c.2865G= (p.Gln955=)
c.4143G= (p.Gln1381=)
10g.75030032G>TCA377300366DUSP29,KAT6Bc.5208G>T (p.Gln1736His)
c.4659G>T (p.Gln1553His)
c.4332G>T (p.Gln1444His)
n.577-3438C>A
c.*3622-3438C>A (n.*3622-3438C>A)
c.5046G>T (p.Gln1682His)
c.4170G>T (p.Gln1390His)
c.3519G>T (p.Gln1173His)
c.3123G>T (p.Gln1041His)
c.2865G>T (p.Gln955His)
c.4143G>T (p.Gln1381His)
10g.75030033C>ACA377300367DUSP29,KAT6Bc.5209C>A (p.Gln1737Lys)
c.4660C>A (p.Gln1554Lys)
c.4333C>A (p.Gln1445Lys)
n.577-3439G>T
c.*3622-3439G>T (n.*3622-3439G>T)
c.5047C>A (p.Gln1683Lys)
c.4171C>A (p.Gln1391Lys)
c.3520C>A (p.Gln1174Lys)
c.3124C>A (p.Gln1042Lys)
c.2866C>A (p.Gln956Lys)
c.4144C>A (p.Gln1382Lys)
10g.75030033C>GCA377300369DUSP29,KAT6Bc.5209C>G (p.Gln1737Glu)
c.4660C>G (p.Gln1554Glu)
c.4333C>G (p.Gln1445Glu)
n.577-3439G>C
c.*3622-3439G>C (n.*3622-3439G>C)
c.5047C>G (p.Gln1683Glu)
c.4171C>G (p.Gln1391Glu)
c.3520C>G (p.Gln1174Glu)
c.3124C>G (p.Gln1042Glu)
c.2866C>G (p.Gln956Glu)
c.4144C>G (p.Gln1382Glu)
10g.75030033C>TCA377300370DUSP29,KAT6Bc.5209C>T (p.Gln1737Ter)
c.4660C>T (p.Gln1554Ter)
c.4333C>T (p.Gln1445Ter)
n.577-3439G>A
c.*3622-3439G>A (n.*3622-3439G>A)
c.5047C>T (p.Gln1683Ter)
c.4171C>T (p.Gln1391Ter)
c.3520C>T (p.Gln1174Ter)
c.3124C>T (p.Gln1042Ter)
c.2866C>T (p.Gln956Ter)
c.4144C>T (p.Gln1382Ter)
10g.75030034A>CCA377300372DUSP29,KAT6Bc.5210A>C (p.Gln1737Pro)
c.4661A>C (p.Gln1554Pro)
c.4334A>C (p.Gln1445Pro)
n.577-3440T>G
c.*3622-3440T>G (n.*3622-3440T>G)
c.5048A>C (p.Gln1683Pro)
c.4172A>C (p.Gln1391Pro)
c.3521A>C (p.Gln1174Pro)
c.3125A>C (p.Gln1042Pro)
c.2867A>C (p.Gln956Pro)
c.4145A>C (p.Gln1382Pro)
10g.75030034A>GCA377300374DUSP29,KAT6Bc.5210A>G (p.Gln1737Arg)
c.4661A>G (p.Gln1554Arg)
c.4334A>G (p.Gln1445Arg)
n.577-3440T>C
c.*3622-3440T>C (n.*3622-3440T>C)
c.5048A>G (p.Gln1683Arg)
c.4172A>G (p.Gln1391Arg)
c.3521A>G (p.Gln1174Arg)
c.3125A>G (p.Gln1042Arg)
c.2867A>G (p.Gln956Arg)
c.4145A>G (p.Gln1382Arg)
10g.75030034A>TCA377300376DUSP29,KAT6Bc.5210A>T (p.Gln1737Leu)
c.4661A>T (p.Gln1554Leu)
c.4334A>T (p.Gln1445Leu)
n.577-3440T>A
c.*3622-3440T>A (n.*3622-3440T>A)
c.5048A>T (p.Gln1683Leu)
c.4172A>T (p.Gln1391Leu)
c.3521A>T (p.Gln1174Leu)
c.3125A>T (p.Gln1042Leu)
c.2867A>T (p.Gln956Leu)
c.4145A>T (p.Gln1382Leu)
10g.75030035A>CCA377300378DUSP29,KAT6Bc.5211A>C (p.Gln1737His)
c.4662A>C (p.Gln1554His)
c.4335A>C (p.Gln1445His)
n.577-3441T>G
c.*3622-3441T>G (n.*3622-3441T>G)
c.5049A>C (p.Gln1683His)
c.4173A>C (p.Gln1391His)
c.3522A>C (p.Gln1174His)
c.3126A>C (p.Gln1042His)
c.2868A>C (p.Gln956His)
c.4146A>C (p.Gln1382His)
10g.75030035A>GCA470300690DUSP29,KAT6Bc.5211A>G (p.Gln1737=)
c.4662A>G (p.Gln1554=)
c.4335A>G (p.Gln1445=)
n.577-3441T>C
c.*3622-3441T>C (n.*3622-3441T>C)
c.5049A>G (p.Gln1683=)
c.4173A>G (p.Gln1391=)
c.3522A>G (p.Gln1174=)
c.3126A>G (p.Gln1042=)
c.2868A>G (p.Gln956=)
c.4146A>G (p.Gln1382=)
 gnomAD v4 COSMIC
10g.75030035A>TCA377300381DUSP29,KAT6Bc.5211A>T (p.Gln1737His)
c.4662A>T (p.Gln1554His)
c.4335A>T (p.Gln1445His)
n.577-3441T>A
c.*3622-3441T>A (n.*3622-3441T>A)
c.5049A>T (p.Gln1683His)
c.4173A>T (p.Gln1391His)
c.3522A>T (p.Gln1174His)
c.3126A>T (p.Gln1042His)
c.2868A>T (p.Gln956His)
c.4146A>T (p.Gln1382His)
10g.75030036A>CCA377300385DUSP29,KAT6Bc.5212A>C (p.Thr1738Pro)
c.4663A>C (p.Thr1555Pro)
c.4336A>C (p.Thr1446Pro)
n.577-3442T>G
c.*3622-3442T>G (n.*3622-3442T>G)
c.5050A>C (p.Thr1684Pro)
c.4174A>C (p.Thr1392Pro)
c.3523A>C (p.Thr1175Pro)
c.3127A>C (p.Thr1043Pro)
c.2869A>C (p.Thr957Pro)
c.4147A>C (p.Thr1383Pro)
10g.75030036A>GCA377300387DUSP29,KAT6Bc.5212A>G (p.Thr1738Ala)
c.4663A>G (p.Thr1555Ala)
c.4336A>G (p.Thr1446Ala)
n.577-3442T>C
c.*3622-3442T>C (n.*3622-3442T>C)
c.5050A>G (p.Thr1684Ala)
c.4174A>G (p.Thr1392Ala)
c.3523A>G (p.Thr1175Ala)
c.3127A>G (p.Thr1043Ala)
c.2869A>G (p.Thr957Ala)
c.4147A>G (p.Thr1383Ala)
10g.75030036A>TCA377300383DUSP29,KAT6Bc.5212A>T (p.Thr1738Ser)
c.4663A>T (p.Thr1555Ser)
c.4336A>T (p.Thr1446Ser)
n.577-3442T>A
c.*3622-3442T>A (n.*3622-3442T>A)
c.5050A>T (p.Thr1684Ser)
c.4174A>T (p.Thr1392Ser)
c.3523A>T (p.Thr1175Ser)
c.3127A>T (p.Thr1043Ser)
c.2869A>T (p.Thr957Ser)
c.4147A>T (p.Thr1383Ser)
10g.75030037C>ACA377300389DUSP29,KAT6Bc.5213C>A (p.Thr1738Asn)
c.4664C>A (p.Thr1555Asn)
c.4337C>A (p.Thr1446Asn)
n.577-3443G>T
c.*3622-3443G>T (n.*3622-3443G>T)
c.5051C>A (p.Thr1684Asn)
c.4175C>A (p.Thr1392Asn)
c.3524C>A (p.Thr1175Asn)
c.3128C>A (p.Thr1043Asn)
c.2870C>A (p.Thr957Asn)
c.4148C>A (p.Thr1383Asn)
10g.75030037C=CA1920306913DUSP29,KAT6Bc.5213C= (p.Thr1738=)
c.4664C= (p.Thr1555=)
c.4337C= (p.Thr1446=)
n.577-3443G=
c.*3622-3443G= (n.*3622-3443G=)
c.5051C= (p.Thr1684=)
c.4175C= (p.Thr1392=)
c.3524C= (p.Thr1175=)
c.3128C= (p.Thr1043=)
c.2870C= (p.Thr957=)
c.4148C= (p.Thr1383=)
10g.75030037C>GCA377300390DUSP29,KAT6Bc.5213C>G (p.Thr1738Ser)
c.4664C>G (p.Thr1555Ser)
c.4337C>G (p.Thr1446Ser)
n.577-3443G>C
c.*3622-3443G>C (n.*3622-3443G>C)
c.5051C>G (p.Thr1684Ser)
c.4175C>G (p.Thr1392Ser)
c.3524C>G (p.Thr1175Ser)
c.3128C>G (p.Thr1043Ser)
c.2870C>G (p.Thr957Ser)
c.4148C>G (p.Thr1383Ser)
10g.75030037C>TCA377300392DUSP29,KAT6Bc.5213C>T (p.Thr1738Ile)
c.4664C>T (p.Thr1555Ile)
c.4337C>T (p.Thr1446Ile)
n.577-3443G>A
c.*3622-3443G>A (n.*3622-3443G>A)
c.5051C>T (p.Thr1684Ile)
c.4175C>T (p.Thr1392Ile)
c.3524C>T (p.Thr1175Ile)
c.3128C>T (p.Thr1043Ile)
c.2870C>T (p.Thr957Ile)
c.4148C>T (p.Thr1383Ile)
 ClinVar dbSNP gnomAD v4
10g.75030038C>ACA470300694DUSP29,KAT6Bc.5214C>A (p.Thr1738=)
c.4665C>A (p.Thr1555=)
c.4338C>A (p.Thr1446=)
n.577-3444G>T
c.*3622-3444G>T (n.*3622-3444G>T)
c.5052C>A (p.Thr1684=)
c.4176C>A (p.Thr1392=)
c.3525C>A (p.Thr1175=)
c.3129C>A (p.Thr1043=)
c.2871C>A (p.Thr957=)
c.4149C>A (p.Thr1383=)
10g.75030038C=CA1920306914DUSP29,KAT6Bc.5214C= (p.Thr1738=)
c.4665C= (p.Thr1555=)
c.4338C= (p.Thr1446=)
n.577-3444G=
c.*3622-3444G= (n.*3622-3444G=)
c.5052C= (p.Thr1684=)
c.4176C= (p.Thr1392=)
c.3525C= (p.Thr1175=)
c.3129C= (p.Thr1043=)
c.2871C= (p.Thr957=)
c.4149C= (p.Thr1383=)
10g.75030038C>GCA470300695DUSP29,KAT6Bc.5214C>G (p.Thr1738=)
c.4665C>G (p.Thr1555=)
c.4338C>G (p.Thr1446=)
n.577-3444G>C
c.*3622-3444G>C (n.*3622-3444G>C)
c.5052C>G (p.Thr1684=)
c.4176C>G (p.Thr1392=)
c.3525C>G (p.Thr1175=)
c.3129C>G (p.Thr1043=)
c.2871C>G (p.Thr957=)
c.4149C>G (p.Thr1383=)
10g.75030038C>TCA5565152DUSP29,KAT6Bc.5214C>T (p.Thr1738=)
c.4665C>T (p.Thr1555=)
c.4338C>T (p.Thr1446=)
n.577-3444G>A
c.*3622-3444G>A (n.*3622-3444G>A)
c.5052C>T (p.Thr1684=)
c.4176C>T (p.Thr1392=)
c.3525C>T (p.Thr1175=)
c.3129C>T (p.Thr1043=)
c.2871C>T (p.Thr957=)
c.4149C>T (p.Thr1383=)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.75030039A>CCA377300395DUSP29,KAT6Bc.5215A>C (p.Ser1739Arg)
c.4666A>C (p.Ser1556Arg)
c.4339A>C (p.Ser1447Arg)
n.577-3445T>G
c.*3622-3445T>G (n.*3622-3445T>G)
c.5053A>C (p.Ser1685Arg)
c.4177A>C (p.Ser1393Arg)
c.3526A>C (p.Ser1176Arg)
c.3130A>C (p.Ser1044Arg)
c.2872A>C (p.Ser958Arg)
c.4150A>C (p.Ser1384Arg)
10g.75030039A>GCA377300397DUSP29,KAT6Bc.5215A>G (p.Ser1739Gly)
c.4666A>G (p.Ser1556Gly)
c.4339A>G (p.Ser1447Gly)
n.577-3445T>C
c.*3622-3445T>C (n.*3622-3445T>C)
c.5053A>G (p.Ser1685Gly)
c.4177A>G (p.Ser1393Gly)
c.3526A>G (p.Ser1176Gly)
c.3130A>G (p.Ser1044Gly)
c.2872A>G (p.Ser958Gly)
c.4150A>G (p.Ser1384Gly)
10g.75030039A>TCA377300399DUSP29,KAT6Bc.5215A>T (p.Ser1739Cys)
c.4666A>T (p.Ser1556Cys)
c.4339A>T (p.Ser1447Cys)
n.577-3445T>A
c.*3622-3445T>A (n.*3622-3445T>A)
c.5053A>T (p.Ser1685Cys)
c.4177A>T (p.Ser1393Cys)
c.3526A>T (p.Ser1176Cys)
c.3130A>T (p.Ser1044Cys)
c.2872A>T (p.Ser958Cys)
c.4150A>T (p.Ser1384Cys)
10g.75030040G>ACA5565153DUSP29,KAT6Bc.5216G>A (p.Ser1739Asn)
c.4667G>A (p.Ser1556Asn)
c.4340G>A (p.Ser1447Asn)
n.577-3446C>T
c.*3622-3446C>T (n.*3622-3446C>T)
c.5054G>A (p.Ser1685Asn)
c.4178G>A (p.Ser1393Asn)
c.3527G>A (p.Ser1176Asn)
c.3131G>A (p.Ser1044Asn)
c.2873G>A (p.Ser958Asn)
c.4151G>A (p.Ser1384Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.75030040G>CCA377300403DUSP29,KAT6Bc.5216G>C (p.Ser1739Thr)
c.4667G>C (p.Ser1556Thr)
c.4340G>C (p.Ser1447Thr)
n.577-3446C>G
c.*3622-3446C>G (n.*3622-3446C>G)
c.5054G>C (p.Ser1685Thr)
c.4178G>C (p.Ser1393Thr)
c.3527G>C (p.Ser1176Thr)
c.3131G>C (p.Ser1044Thr)
c.2873G>C (p.Ser958Thr)
c.4151G>C (p.Ser1384Thr)
10g.75030040G=CA1920306915DUSP29,KAT6Bc.5216G= (p.Ser1739=)
c.4667G= (p.Ser1556=)
c.4340G= (p.Ser1447=)
n.577-3446C=
c.*3622-3446C= (n.*3622-3446C=)
c.5054G= (p.Ser1685=)
c.4178G= (p.Ser1393=)
c.3527G= (p.Ser1176=)
c.3131G= (p.Ser1044=)
c.2873G= (p.Ser958=)
c.4151G= (p.Ser1384=)
10g.75030040G>TCA377300405DUSP29,KAT6Bc.5216G>T (p.Ser1739Ile)
c.4667G>T (p.Ser1556Ile)
c.4340G>T (p.Ser1447Ile)
n.577-3446C>A
c.*3622-3446C>A (n.*3622-3446C>A)
c.5054G>T (p.Ser1685Ile)
c.4178G>T (p.Ser1393Ile)
c.3527G>T (p.Ser1176Ile)
c.3131G>T (p.Ser1044Ile)
c.2873G>T (p.Ser958Ile)
c.4151G>T (p.Ser1384Ile)
10g.75030041C>ACA377300407DUSP29,KAT6Bc.5217C>A (p.Ser1739Arg)
c.4668C>A (p.Ser1556Arg)
c.4341C>A (p.Ser1447Arg)
n.577-3447G>T
c.*3622-3447G>T (n.*3622-3447G>T)
c.5055C>A (p.Ser1685Arg)
c.4179C>A (p.Ser1393Arg)
c.3528C>A (p.Ser1176Arg)
c.3132C>A (p.Ser1044Arg)
c.2874C>A (p.Ser958Arg)
c.4152C>A (p.Ser1384Arg)
10g.75030041C>GCA377300409DUSP29,KAT6Bc.5217C>G (p.Ser1739Arg)
c.4668C>G (p.Ser1556Arg)
c.4341C>G (p.Ser1447Arg)
n.577-3447G>C
c.*3622-3447G>C (n.*3622-3447G>C)
c.5055C>G (p.Ser1685Arg)
c.4179C>G (p.Ser1393Arg)
c.3528C>G (p.Ser1176Arg)
c.3132C>G (p.Ser1044Arg)
c.2874C>G (p.Ser958Arg)
c.4152C>G (p.Ser1384Arg)
10g.75030041C>TCA470300752DUSP29,KAT6Bc.5217C>T (p.Ser1739=)
c.4668C>T (p.Ser1556=)
c.4341C>T (p.Ser1447=)
n.577-3447G>A
c.*3622-3447G>A (n.*3622-3447G>A)
c.5055C>T (p.Ser1685=)
c.4179C>T (p.Ser1393=)
c.3528C>T (p.Ser1176=)
c.3132C>T (p.Ser1044=)
c.2874C>T (p.Ser958=)
c.4152C>T (p.Ser1384=)
10g.75030042A>CCA377300415DUSP29,KAT6Bc.5218A>C (p.Ile1740Leu)
c.4669A>C (p.Ile1557Leu)
c.4342A>C (p.Ile1448Leu)
n.577-3448T>G
c.*3622-3448T>G (n.*3622-3448T>G)
c.5056A>C (p.Ile1686Leu)
c.4180A>C (p.Ile1394Leu)
c.3529A>C (p.Ile1177Leu)
c.3133A>C (p.Ile1045Leu)
c.2875A>C (p.Ile959Leu)
c.4153A>C (p.Ile1385Leu)
10g.75030042A>GCA377300411DUSP29,KAT6Bc.5218A>G (p.Ile1740Val)
c.4669A>G (p.Ile1557Val)
c.4342A>G (p.Ile1448Val)
n.577-3448T>C
c.*3622-3448T>C (n.*3622-3448T>C)
c.5056A>G (p.Ile1686Val)
c.4180A>G (p.Ile1394Val)
c.3529A>G (p.Ile1177Val)
c.3133A>G (p.Ile1045Val)
c.2875A>G (p.Ile959Val)
c.4153A>G (p.Ile1385Val)
10g.75030042A>TCA377300413DUSP29,KAT6Bc.5218A>T (p.Ile1740Phe)
c.4669A>T (p.Ile1557Phe)
c.4342A>T (p.Ile1448Phe)
n.577-3448T>A
c.*3622-3448T>A (n.*3622-3448T>A)
c.5056A>T (p.Ile1686Phe)
c.4180A>T (p.Ile1394Phe)
c.3529A>T (p.Ile1177Phe)
c.3133A>T (p.Ile1045Phe)
c.2875A>T (p.Ile959Phe)
c.4153A>T (p.Ile1385Phe)
10g.75030043T>ACA377300417DUSP29,KAT6Bc.5219T>A (p.Ile1740Asn)
c.4670T>A (p.Ile1557Asn)
c.4343T>A (p.Ile1448Asn)
n.577-3449A>T
c.*3622-3449A>T (n.*3622-3449A>T)
c.5057T>A (p.Ile1686Asn)
c.4181T>A (p.Ile1394Asn)
c.3530T>A (p.Ile1177Asn)
c.3134T>A (p.Ile1045Asn)
c.2876T>A (p.Ile959Asn)
c.4154T>A (p.Ile1385Asn)
10g.75030043T>CCA377300418DUSP29,KAT6Bc.5219T>C (p.Ile1740Thr)
c.4670T>C (p.Ile1557Thr)
c.4343T>C (p.Ile1448Thr)
n.577-3449A>G
c.*3622-3449A>G (n.*3622-3449A>G)
c.5057T>C (p.Ile1686Thr)
c.4181T>C (p.Ile1394Thr)
c.3530T>C (p.Ile1177Thr)
c.3134T>C (p.Ile1045Thr)
c.2876T>C (p.Ile959Thr)
c.4154T>C (p.Ile1385Thr)
10g.75030043T>GCA377300420DUSP29,KAT6Bc.5219T>G (p.Ile1740Ser)
c.4670T>G (p.Ile1557Ser)
c.4343T>G (p.Ile1448Ser)
n.577-3449A>C
c.*3622-3449A>C (n.*3622-3449A>C)
c.5057T>G (p.Ile1686Ser)
c.4181T>G (p.Ile1394Ser)
c.3530T>G (p.Ile1177Ser)
c.3134T>G (p.Ile1045Ser)
c.2876T>G (p.Ile959Ser)
c.4154T>G (p.Ile1385Ser)
10g.75030044C>ACA470300754DUSP29,KAT6Bc.5220C>A (p.Ile1740=)
c.4671C>A (p.Ile1557=)
c.4344C>A (p.Ile1448=)
n.577-3450G>T
c.*3622-3450G>T (n.*3622-3450G>T)
c.5058C>A (p.Ile1686=)
c.4182C>A (p.Ile1394=)
c.3531C>A (p.Ile1177=)
c.3135C>A (p.Ile1045=)
c.2877C>A (p.Ile959=)
c.4155C>A (p.Ile1385=)
10g.75030044C>GCA377300422DUSP29,KAT6Bc.5220C>G (p.Ile1740Met)
c.4671C>G (p.Ile1557Met)
c.4344C>G (p.Ile1448Met)
n.577-3450G>C
c.*3622-3450G>C (n.*3622-3450G>C)
c.5058C>G (p.Ile1686Met)
c.4182C>G (p.Ile1394Met)
c.3531C>G (p.Ile1177Met)
c.3135C>G (p.Ile1045Met)
c.2877C>G (p.Ile959Met)
c.4155C>G (p.Ile1385Met)
10g.75030044C>TCA470300753DUSP29,KAT6Bc.5220C>T (p.Ile1740=)
c.4671C>T (p.Ile1557=)
c.4344C>T (p.Ile1448=)
n.577-3450G>A
c.*3622-3450G>A (n.*3622-3450G>A)
c.5058C>T (p.Ile1686=)
c.4182C>T (p.Ile1394=)
c.3531C>T (p.Ile1177=)
c.3135C>T (p.Ile1045=)
c.2877C>T (p.Ile959=)
c.4155C>T (p.Ile1385=)
10g.75030045A=CA1920306916DUSP29,KAT6Bc.5221A= (p.Ser1741=)
c.4672A= (p.Ser1558=)
c.4345A= (p.Ser1449=)
n.577-3451T=
c.*3622-3451T= (n.*3622-3451T=)
c.5059A= (p.Ser1687=)
c.4183A= (p.Ser1395=)
c.3532A= (p.Ser1178=)
c.3136A= (p.Ser1046=)
c.2878A= (p.Ser960=)
c.4156A= (p.Ser1386=)
10g.75030045A>CCA377300425DUSP29,KAT6Bc.5221A>C (p.Ser1741Arg)
c.4672A>C (p.Ser1558Arg)
c.4345A>C (p.Ser1449Arg)
n.577-3451T>G
c.*3622-3451T>G (n.*3622-3451T>G)
c.5059A>C (p.Ser1687Arg)
c.4183A>C (p.Ser1395Arg)
c.3532A>C (p.Ser1178Arg)
c.3136A>C (p.Ser1046Arg)
c.2878A>C (p.Ser960Arg)
c.4156A>C (p.Ser1386Arg)
10g.75030045A>GCA10636435DUSP29,KAT6Bc.5221A>G (p.Ser1741Gly)
c.4672A>G (p.Ser1558Gly)
c.4345A>G (p.Ser1449Gly)
n.577-3451T>C
c.*3622-3451T>C (n.*3622-3451T>C)
c.5059A>G (p.Ser1687Gly)
c.4183A>G (p.Ser1395Gly)
c.3532A>G (p.Ser1178Gly)
c.3136A>G (p.Ser1046Gly)
c.2878A>G (p.Ser960Gly)
c.4156A>G (p.Ser1386Gly)
 dbSNP gnomAD v4
10g.75030045A>TCA377300428DUSP29,KAT6Bc.5221A>T (p.Ser1741Cys)
c.4672A>T (p.Ser1558Cys)
c.4345A>T (p.Ser1449Cys)
n.577-3451T>A
c.*3622-3451T>A (n.*3622-3451T>A)
c.5059A>T (p.Ser1687Cys)
c.4183A>T (p.Ser1395Cys)
c.3532A>T (p.Ser1178Cys)
c.3136A>T (p.Ser1046Cys)
c.2878A>T (p.Ser960Cys)
c.4156A>T (p.Ser1386Cys)
 dbSNP gnomAD v4
10g.75030046G>ACA377300431DUSP29,KAT6Bc.5222G>A (p.Ser1741Asn)
c.4673G>A (p.Ser1558Asn)
c.4346G>A (p.Ser1449Asn)
n.577-3452C>T
c.*3622-3452C>T (n.*3622-3452C>T)
c.5060G>A (p.Ser1687Asn)
c.4184G>A (p.Ser1395Asn)
c.3533G>A (p.Ser1178Asn)
c.3137G>A (p.Ser1046Asn)
c.2879G>A (p.Ser960Asn)
c.4157G>A (p.Ser1386Asn)
 gnomAD v4
10g.75030046G>CCA377300433DUSP29,KAT6Bc.5222G>C (p.Ser1741Thr)
c.4673G>C (p.Ser1558Thr)
c.4346G>C (p.Ser1449Thr)
n.577-3452C>G
c.*3622-3452C>G (n.*3622-3452C>G)
c.5060G>C (p.Ser1687Thr)
c.4184G>C (p.Ser1395Thr)
c.3533G>C (p.Ser1178Thr)
c.3137G>C (p.Ser1046Thr)
c.2879G>C (p.Ser960Thr)
c.4157G>C (p.Ser1386Thr)
 dbSNP gnomAD v3 gnomAD v4
10g.75030046G=CA1920306917DUSP29,KAT6Bc.5222G= (p.Ser1741=)
c.4673G= (p.Ser1558=)
c.4346G= (p.Ser1449=)
n.577-3452C=
c.*3622-3452C= (n.*3622-3452C=)
c.5060G= (p.Ser1687=)
c.4184G= (p.Ser1395=)
c.3533G= (p.Ser1178=)
c.3137G= (p.Ser1046=)
c.2879G= (p.Ser960=)
c.4157G= (p.Ser1386=)
10g.75030046G>TCA377300435DUSP29,KAT6Bc.5222G>T (p.Ser1741Ile)
c.4673G>T (p.Ser1558Ile)
c.4346G>T (p.Ser1449Ile)
n.577-3452C>A
c.*3622-3452C>A (n.*3622-3452C>A)
c.5060G>T (p.Ser1687Ile)
c.4184G>T (p.Ser1395Ile)
c.3533G>T (p.Ser1178Ile)
c.3137G>T (p.Ser1046Ile)
c.2879G>T (p.Ser960Ile)
c.4157G>T (p.Ser1386Ile)
10g.75030047C>ACA377300437DUSP29,KAT6Bc.5223C>A (p.Ser1741Arg)
c.4674C>A (p.Ser1558Arg)
c.4347C>A (p.Ser1449Arg)
n.577-3453G>T
c.*3622-3453G>T (n.*3622-3453G>T)
c.5061C>A (p.Ser1687Arg)
c.4185C>A (p.Ser1395Arg)
c.3534C>A (p.Ser1178Arg)
c.3138C>A (p.Ser1046Arg)
c.2880C>A (p.Ser960Arg)
c.4158C>A (p.Ser1386Arg)
10g.75030047C=CA1920306918DUSP29,KAT6Bc.5223C= (p.Ser1741=)
c.4674C= (p.Ser1558=)
c.4347C= (p.Ser1449=)
n.577-3453G=
c.*3622-3453G= (n.*3622-3453G=)
c.5061C= (p.Ser1687=)
c.4185C= (p.Ser1395=)
c.3534C= (p.Ser1178=)
c.3138C= (p.Ser1046=)
c.2880C= (p.Ser960=)
c.4158C= (p.Ser1386=)
10g.75030047C>GCA377300439DUSP29,KAT6Bc.5223C>G (p.Ser1741Arg)
c.4674C>G (p.Ser1558Arg)
c.4347C>G (p.Ser1449Arg)
n.577-3453G>C
c.*3622-3453G>C (n.*3622-3453G>C)
c.5061C>G (p.Ser1687Arg)
c.4185C>G (p.Ser1395Arg)
c.3534C>G (p.Ser1178Arg)
c.3138C>G (p.Ser1046Arg)
c.2880C>G (p.Ser960Arg)
c.4158C>G (p.Ser1386Arg)
10g.75030047C>TCA470300755DUSP29,KAT6Bc.5223C>T (p.Ser1741=)
c.4674C>T (p.Ser1558=)
c.4347C>T (p.Ser1449=)
n.577-3453G>A
c.*3622-3453G>A (n.*3622-3453G>A)
c.5061C>T (p.Ser1687=)
c.4185C>T (p.Ser1395=)
c.3534C>T (p.Ser1178=)
c.3138C>T (p.Ser1046=)
c.2880C>T (p.Ser960=)
c.4158C>T (p.Ser1386=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.75030048T>ACA377300445DUSP29,KAT6Bc.5224T>A (p.Ser1742Thr)
c.4675T>A (p.Ser1559Thr)
c.4348T>A (p.Ser1450Thr)
n.577-3454A>T
c.*3622-3454A>T (n.*3622-3454A>T)
c.5062T>A (p.Ser1688Thr)
c.4186T>A (p.Ser1396Thr)
c.3535T>A (p.Ser1179Thr)
c.3139T>A (p.Ser1047Thr)
c.2881T>A (p.Ser961Thr)
c.4159T>A (p.Ser1387Thr)
10g.75030048T>CCA377300446DUSP29,KAT6Bc.5224T>C (p.Ser1742Pro)
c.4675T>C (p.Ser1559Pro)
c.4348T>C (p.Ser1450Pro)
n.577-3454A>G
c.*3622-3454A>G (n.*3622-3454A>G)
c.5062T>C (p.Ser1688Pro)
c.4186T>C (p.Ser1396Pro)
c.3535T>C (p.Ser1179Pro)
c.3139T>C (p.Ser1047Pro)
c.2881T>C (p.Ser961Pro)
c.4159T>C (p.Ser1387Pro)
10g.75030048T>GCA377300442DUSP29,KAT6Bc.5224T>G (p.Ser1742Ala)
c.4675T>G (p.Ser1559Ala)
c.4348T>G (p.Ser1450Ala)
n.577-3454A>C
c.*3622-3454A>C (n.*3622-3454A>C)
c.5062T>G (p.Ser1688Ala)
c.4186T>G (p.Ser1396Ala)
c.3535T>G (p.Ser1179Ala)
c.3139T>G (p.Ser1047Ala)
c.2881T>G (p.Ser961Ala)
c.4159T>G (p.Ser1387Ala)
10g.75030049C>ACA377300453DUSP29,KAT6Bc.5225C>A (p.Ser1742Tyr)
c.4676C>A (p.Ser1559Tyr)
c.4349C>A (p.Ser1450Tyr)
n.577-3455G>T
c.*3622-3455G>T (n.*3622-3455G>T)
c.5063C>A (p.Ser1688Tyr)
c.4187C>A (p.Ser1396Tyr)
c.3536C>A (p.Ser1179Tyr)
c.3140C>A (p.Ser1047Tyr)
c.2882C>A (p.Ser961Tyr)
c.4160C>A (p.Ser1387Tyr)
10g.75030049C>GCA377300449DUSP29,KAT6Bc.5225C>G (p.Ser1742Cys)
c.4676C>G (p.Ser1559Cys)
c.4349C>G (p.Ser1450Cys)
n.577-3455G>C
c.*3622-3455G>C (n.*3622-3455G>C)
c.5063C>G (p.Ser1688Cys)
c.4187C>G (p.Ser1396Cys)
c.3536C>G (p.Ser1179Cys)
c.3140C>G (p.Ser1047Cys)
c.2882C>G (p.Ser961Cys)
c.4160C>G (p.Ser1387Cys)
10g.75030049C>TCA377300451DUSP29,KAT6Bc.5225C>T (p.Ser1742Phe)
c.4676C>T (p.Ser1559Phe)
c.4349C>T (p.Ser1450Phe)
n.577-3455G>A
c.*3622-3455G>A (n.*3622-3455G>A)
c.5063C>T (p.Ser1688Phe)
c.4187C>T (p.Ser1396Phe)
c.3536C>T (p.Ser1179Phe)
c.3140C>T (p.Ser1047Phe)
c.2882C>T (p.Ser961Phe)
c.4160C>T (p.Ser1387Phe)
10g.75030050C>ACA470300756DUSP29,KAT6Bc.5226C>A (p.Ser1742=)
c.4677C>A (p.Ser1559=)
c.4350C>A (p.Ser1450=)
n.577-3456G>T
c.*3622-3456G>T (n.*3622-3456G>T)
c.5064C>A (p.Ser1688=)
c.4188C>A (p.Ser1396=)
c.3537C>A (p.Ser1179=)
c.3141C>A (p.Ser1047=)
c.2883C>A (p.Ser961=)
c.4161C>A (p.Ser1387=)
10g.75030050C>GCA470300757DUSP29,KAT6Bc.5226C>G (p.Ser1742=)
c.4677C>G (p.Ser1559=)
c.4350C>G (p.Ser1450=)
n.577-3456G>C
c.*3622-3456G>C (n.*3622-3456G>C)
c.5064C>G (p.Ser1688=)
c.4188C>G (p.Ser1396=)
c.3537C>G (p.Ser1179=)
c.3141C>G (p.Ser1047=)
c.2883C>G (p.Ser961=)
c.4161C>G (p.Ser1387=)
 dbSNP
10g.75030050C>TCA470300758DUSP29,KAT6Bc.5226C>T (p.Ser1742=)
c.4677C>T (p.Ser1559=)
c.4350C>T (p.Ser1450=)
n.577-3456G>A
c.*3622-3456G>A (n.*3622-3456G>A)
c.5064C>T (p.Ser1688=)
c.4188C>T (p.Ser1396=)
c.3537C>T (p.Ser1179=)
c.3141C>T (p.Ser1047=)
c.2883C>T (p.Ser961=)
c.4161C>T (p.Ser1387=)
 gnomAD v4
10g.75030051C>ACA377300456DUSP29,KAT6Bc.5227C>A (p.Pro1743Thr)
c.4678C>A (p.Pro1560Thr)
c.4351C>A (p.Pro1451Thr)
n.577-3457G>T
c.*3622-3457G>T (n.*3622-3457G>T)
c.5065C>A (p.Pro1689Thr)
c.4189C>A (p.Pro1397Thr)
c.3538C>A (p.Pro1180Thr)
c.3142C>A (p.Pro1048Thr)
c.2884C>A (p.Pro962Thr)
c.4162C>A (p.Pro1388Thr)
10g.75030051C=CA1920306919DUSP29,KAT6Bc.5227C= (p.Pro1743=)
c.4678C= (p.Pro1560=)
c.4351C= (p.Pro1451=)
n.577-3457G=
c.*3622-3457G= (n.*3622-3457G=)
c.5065C= (p.Pro1689=)
c.4189C= (p.Pro1397=)
c.3538C= (p.Pro1180=)
c.3142C= (p.Pro1048=)
c.2884C= (p.Pro962=)
c.4162C= (p.Pro1388=)
10g.75030051C>GCA377300458DUSP29,KAT6Bc.5227C>G (p.Pro1743Ala)
c.4678C>G (p.Pro1560Ala)
c.4351C>G (p.Pro1451Ala)
n.577-3457G>C
c.*3622-3457G>C (n.*3622-3457G>C)
c.5065C>G (p.Pro1689Ala)
c.4189C>G (p.Pro1397Ala)
c.3538C>G (p.Pro1180Ala)
c.3142C>G (p.Pro1048Ala)
c.2884C>G (p.Pro962Ala)
c.4162C>G (p.Pro1388Ala)
10g.75030051C>TCA5565154DUSP29,KAT6Bc.5227C>T (p.Pro1743Ser)
c.4678C>T (p.Pro1560Ser)
c.4351C>T (p.Pro1451Ser)
n.577-3457G>A
c.*3622-3457G>A (n.*3622-3457G>A)
c.5065C>T (p.Pro1689Ser)
c.4189C>T (p.Pro1397Ser)
c.3538C>T (p.Pro1180Ser)
c.3142C>T (p.Pro1048Ser)
c.2884C>T (p.Pro962Ser)
c.4162C>T (p.Pro1388Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.75030052C>ACA377300462DUSP29,KAT6Bc.5228C>A (p.Pro1743His)
c.4679C>A (p.Pro1560His)
c.4352C>A (p.Pro1451His)
n.577-3458G>T
c.*3622-3458G>T (n.*3622-3458G>T)
c.5066C>A (p.Pro1689His)
c.4190C>A (p.Pro1397His)
c.3539C>A (p.Pro1180His)
c.3143C>A (p.Pro1048His)
c.2885C>A (p.Pro962His)
c.4163C>A (p.Pro1388His)
10g.75030052C>GCA377300464DUSP29,KAT6Bc.5228C>G (p.Pro1743Arg)
c.4679C>G (p.Pro1560Arg)
c.4352C>G (p.Pro1451Arg)
n.577-3458G>C
c.*3622-3458G>C (n.*3622-3458G>C)
c.5066C>G (p.Pro1689Arg)
c.4190C>G (p.Pro1397Arg)
c.3539C>G (p.Pro1180Arg)
c.3143C>G (p.Pro1048Arg)
c.2885C>G (p.Pro962Arg)
c.4163C>G (p.Pro1388Arg)
10g.75030052C>TCA377300466DUSP29,KAT6Bc.5228C>T (p.Pro1743Leu)
c.4679C>T (p.Pro1560Leu)
c.4352C>T (p.Pro1451Leu)
n.577-3458G>A
c.*3622-3458G>A (n.*3622-3458G>A)
c.5066C>T (p.Pro1689Leu)
c.4190C>T (p.Pro1397Leu)
c.3539C>T (p.Pro1180Leu)
c.3143C>T (p.Pro1048Leu)
c.2885C>T (p.Pro962Leu)
c.4163C>T (p.Pro1388Leu)
 ClinVar
10g.75030053T>ACA470300759DUSP29,KAT6Bc.5229T>A (p.Pro1743=)
c.4680T>A (p.Pro1560=)
c.4353T>A (p.Pro1451=)
n.577-3459A>T
c.*3622-3459A>T (n.*3622-3459A>T)
c.5067T>A (p.Pro1689=)
c.4191T>A (p.Pro1397=)
c.3540T>A (p.Pro1180=)
c.3144T>A (p.Pro1048=)
c.2886T>A (p.Pro962=)
c.4164T>A (p.Pro1388=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.75030053T>CCA470300760DUSP29,KAT6Bc.5229T>C (p.Pro1743=)
c.4680T>C (p.Pro1560=)
c.4353T>C (p.Pro1451=)
n.577-3459A>G
c.*3622-3459A>G (n.*3622-3459A>G)
c.5067T>C (p.Pro1689=)
c.4191T>C (p.Pro1397=)
c.3540T>C (p.Pro1180=)
c.3144T>C (p.Pro1048=)
c.2886T>C (p.Pro962=)
c.4164T>C (p.Pro1388=)
10g.75030053T>GCA470300761DUSP29,KAT6Bc.5229T>G (p.Pro1743=)
c.4680T>G (p.Pro1560=)
c.4353T>G (p.Pro1451=)
n.577-3459A>C
c.*3622-3459A>C (n.*3622-3459A>C)
c.5067T>G (p.Pro1689=)
c.4191T>G (p.Pro1397=)
c.3540T>G (p.Pro1180=)
c.3144T>G (p.Pro1048=)
c.2886T>G (p.Pro962=)
c.4164T>G (p.Pro1388=)
10g.75030053T=CA1920306920DUSP29,KAT6Bc.5229T= (p.Pro1743=)
c.4680T= (p.Pro1560=)
c.4353T= (p.Pro1451=)
n.577-3459A=
c.*3622-3459A= (n.*3622-3459A=)
c.5067T= (p.Pro1689=)
c.4191T= (p.Pro1397=)
c.3540T= (p.Pro1180=)
c.3144T= (p.Pro1048=)
c.2886T= (p.Pro962=)
c.4164T= (p.Pro1388=)
10g.75030054C>ACA377300468DUSP29,KAT6Bc.5230C>A (p.Pro1744Thr)
c.4681C>A (p.Pro1561Thr)
c.4354C>A (p.Pro1452Thr)
n.577-3460G>T
c.*3622-3460G>T (n.*3622-3460G>T)
c.5068C>A (p.Pro1690Thr)
c.4192C>A (p.Pro1398Thr)
c.3541C>A (p.Pro1181Thr)
c.3145C>A (p.Pro1049Thr)
c.2887C>A (p.Pro963Thr)
c.4165C>A (p.Pro1389Thr)
10g.75030054C>GCA377300470DUSP29,KAT6Bc.5230C>G (p.Pro1744Ala)
c.4681C>G (p.Pro1561Ala)
c.4354C>G (p.Pro1452Ala)
n.577-3460G>C
c.*3622-3460G>C (n.*3622-3460G>C)
c.5068C>G (p.Pro1690Ala)
c.4192C>G (p.Pro1398Ala)
c.3541C>G (p.Pro1181Ala)
c.3145C>G (p.Pro1049Ala)
c.2887C>G (p.Pro963Ala)
c.4165C>G (p.Pro1389Ala)
10g.75030054C>TCA377300472DUSP29,KAT6Bc.5230C>T (p.Pro1744Ser)
c.4681C>T (p.Pro1561Ser)
c.4354C>T (p.Pro1452Ser)
n.577-3460G>A
c.*3622-3460G>A (n.*3622-3460G>A)
c.5068C>T (p.Pro1690Ser)
c.4192C>T (p.Pro1398Ser)
c.3541C>T (p.Pro1181Ser)
c.3145C>T (p.Pro1049Ser)
c.2887C>T (p.Pro963Ser)
c.4165C>T (p.Pro1389Ser)
10g.75030055C>ACA377300477DUSP29,KAT6Bc.5231C>A (p.Pro1744Gln)
c.4682C>A (p.Pro1561Gln)
c.4355C>A (p.Pro1452Gln)
n.577-3461G>T
c.*3622-3461G>T (n.*3622-3461G>T)
c.5069C>A (p.Pro1690Gln)
c.4193C>A (p.Pro1398Gln)
c.3542C>A (p.Pro1181Gln)
c.3146C>A (p.Pro1049Gln)
c.2888C>A (p.Pro963Gln)
c.4166C>A (p.Pro1389Gln)
10g.75030055C=CA1920306921DUSP29,KAT6Bc.5231C= (p.Pro1744=)
c.4682C= (p.Pro1561=)
c.4355C= (p.Pro1452=)
n.577-3461G=
c.*3622-3461G= (n.*3622-3461G=)
c.5069C= (p.Pro1690=)
c.4193C= (p.Pro1398=)
c.3542C= (p.Pro1181=)
c.3146C= (p.Pro1049=)
c.2888C= (p.Pro963=)
c.4166C= (p.Pro1389=)
10g.75030055C>GCA377300475DUSP29,KAT6Bc.5231C>G (p.Pro1744Arg)
c.4682C>G (p.Pro1561Arg)
c.4355C>G (p.Pro1452Arg)
n.577-3461G>C
c.*3622-3461G>C (n.*3622-3461G>C)
c.5069C>G (p.Pro1690Arg)
c.4193C>G (p.Pro1398Arg)
c.3542C>G (p.Pro1181Arg)
c.3146C>G (p.Pro1049Arg)
c.2888C>G (p.Pro963Arg)
c.4166C>G (p.Pro1389Arg)
10g.75030055C>TCA5565155DUSP29,KAT6Bc.5231C>T (p.Pro1744Leu)
c.4682C>T (p.Pro1561Leu)
c.4355C>T (p.Pro1452Leu)
n.577-3461G>A
c.*3622-3461G>A (n.*3622-3461G>A)
c.5069C>T (p.Pro1690Leu)
c.4193C>T (p.Pro1398Leu)
c.3542C>T (p.Pro1181Leu)
c.3146C>T (p.Pro1049Leu)
c.2888C>T (p.Pro963Leu)
c.4166C>T (p.Pro1389Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
10g.75030056G>ACA5565156DUSP29,KAT6Bc.5232G>A (p.Pro1744=)
c.4683G>A (p.Pro1561=)
c.4356G>A (p.Pro1452=)
n.577-3462C>T
c.*3622-3462C>T (n.*3622-3462C>T)
c.5070G>A (p.Pro1690=)
c.4194G>A (p.Pro1398=)
c.3543G>A (p.Pro1181=)
c.3147G>A (p.Pro1049=)
c.2889G>A (p.Pro963=)
c.4167G>A (p.Pro1389=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.75030056G>CCA470300762DUSP29,KAT6Bc.5232G>C (p.Pro1744=)
c.4683G>C (p.Pro1561=)
c.4356G>C (p.Pro1452=)
n.577-3462C>G
c.*3622-3462C>G (n.*3622-3462C>G)
c.5070G>C (p.Pro1690=)
c.4194G>C (p.Pro1398=)
c.3543G>C (p.Pro1181=)
c.3147G>C (p.Pro1049=)
c.2889G>C (p.Pro963=)
c.4167G>C (p.Pro1389=)
10g.75030056G=CA1920306922DUSP29,KAT6Bc.5232G= (p.Pro1744=)
c.4683G= (p.Pro1561=)
c.4356G= (p.Pro1452=)
n.577-3462C=
c.*3622-3462C= (n.*3622-3462C=)
c.5070G= (p.Pro1690=)
c.4194G= (p.Pro1398=)
c.3543G= (p.Pro1181=)
c.3147G= (p.Pro1049=)
c.2889G= (p.Pro963=)
c.4167G= (p.Pro1389=)
10g.75030056G>TCA470300763DUSP29,KAT6Bc.5232G>T (p.Pro1744=)
c.4683G>T (p.Pro1561=)
c.4356G>T (p.Pro1452=)
n.577-3462C>A
c.*3622-3462C>A (n.*3622-3462C>A)
c.5070G>T (p.Pro1690=)
c.4194G>T (p.Pro1398=)
c.3543G>T (p.Pro1181=)
c.3147G>T (p.Pro1049=)
c.2889G>T (p.Pro963=)
c.4167G>T (p.Pro1389=)
10g.75030057A>CCA377300480DUSP29,KAT6Bc.5233A>C (p.Thr1745Pro)
c.4684A>C (p.Thr1562Pro)
c.4357A>C (p.Thr1453Pro)
n.577-3463T>G
c.*3622-3463T>G (n.*3622-3463T>G)
c.5071A>C (p.Thr1691Pro)
c.4195A>C (p.Thr1399Pro)
c.3544A>C (p.Thr1182Pro)
c.3148A>C (p.Thr1050Pro)
c.2890A>C (p.Thr964Pro)
c.4168A>C (p.Thr1390Pro)
10g.75030057A>GCA377300482DUSP29,KAT6Bc.5233A>G (p.Thr1745Ala)
c.4684A>G (p.Thr1562Ala)
c.4357A>G (p.Thr1453Ala)
n.577-3463T>C
c.*3622-3463T>C (n.*3622-3463T>C)
c.5071A>G (p.Thr1691Ala)
c.4195A>G (p.Thr1399Ala)
c.3544A>G (p.Thr1182Ala)
c.3148A>G (p.Thr1050Ala)
c.2890A>G (p.Thr964Ala)
c.4168A>G (p.Thr1390Ala)
10g.75030057A>TCA377300484DUSP29,KAT6Bc.5233A>T (p.Thr1745Ser)
c.4684A>T (p.Thr1562Ser)
c.4357A>T (p.Thr1453Ser)
n.577-3463T>A
c.*3622-3463T>A (n.*3622-3463T>A)
c.5071A>T (p.Thr1691Ser)
c.4195A>T (p.Thr1399Ser)
c.3544A>T (p.Thr1182Ser)
c.3148A>T (p.Thr1050Ser)
c.2890A>T (p.Thr964Ser)
c.4168A>T (p.Thr1390Ser)
10g.75030058C>ACA377300486DUSP29,KAT6Bc.5234C>A (p.Thr1745Asn)
c.4685C>A (p.Thr1562Asn)
c.4358C>A (p.Thr1453Asn)
n.577-3464G>T
c.*3622-3464G>T (n.*3622-3464G>T)
c.5072C>A (p.Thr1691Asn)
c.4196C>A (p.Thr1399Asn)
c.3545C>A (p.Thr1182Asn)
c.3149C>A (p.Thr1050Asn)
c.2891C>A (p.Thr964Asn)
c.4169C>A (p.Thr1390Asn)
10g.75030058C>GCA377300488DUSP29,KAT6Bc.5234C>G (p.Thr1745Ser)
c.4685C>G (p.Thr1562Ser)
c.4358C>G (p.Thr1453Ser)
n.577-3464G>C
c.*3622-3464G>C (n.*3622-3464G>C)
c.5072C>G (p.Thr1691Ser)
c.4196C>G (p.Thr1399Ser)
c.3545C>G (p.Thr1182Ser)
c.3149C>G (p.Thr1050Ser)
c.2891C>G (p.Thr964Ser)
c.4169C>G (p.Thr1390Ser)
10g.75030058C>TCA377300489DUSP29,KAT6Bc.5234C>T (p.Thr1745Ile)
c.4685C>T (p.Thr1562Ile)
c.4358C>T (p.Thr1453Ile)
n.577-3464G>A
c.*3622-3464G>A (n.*3622-3464G>A)
c.5072C>T (p.Thr1691Ile)
c.4196C>T (p.Thr1399Ile)
c.3545C>T (p.Thr1182Ile)
c.3149C>T (p.Thr1050Ile)
c.2891C>T (p.Thr964Ile)
c.4169C>T (p.Thr1390Ile)
10g.75030059C>ACA470300764DUSP29,KAT6Bc.5235C>A (p.Thr1745=)
c.4686C>A (p.Thr1562=)
c.4359C>A (p.Thr1453=)
n.577-3465G>T
c.*3622-3465G>T (n.*3622-3465G>T)
c.5073C>A (p.Thr1691=)
c.4197C>A (p.Thr1399=)
c.3546C>A (p.Thr1182=)
c.3150C>A (p.Thr1050=)
c.2892C>A (p.Thr964=)
c.4170C>A (p.Thr1390=)
10g.75030059C=CA1920306923DUSP29,KAT6Bc.5235C= (p.Thr1745=)
c.4686C= (p.Thr1562=)
c.4359C= (p.Thr1453=)
n.577-3465G=
c.*3622-3465G= (n.*3622-3465G=)
c.5073C= (p.Thr1691=)
c.4197C= (p.Thr1399=)
c.3546C= (p.Thr1182=)
c.3150C= (p.Thr1050=)
c.2892C= (p.Thr964=)
c.4170C= (p.Thr1390=)
10g.75030059C>GCA470300765DUSP29,KAT6Bc.5235C>G (p.Thr1745=)
c.4686C>G (p.Thr1562=)
c.4359C>G (p.Thr1453=)
n.577-3465G>C
c.*3622-3465G>C (n.*3622-3465G>C)
c.5073C>G (p.Thr1691=)
c.4197C>G (p.Thr1399=)
c.3546C>G (p.Thr1182=)
c.3150C>G (p.Thr1050=)
c.2892C>G (p.Thr964=)
c.4170C>G (p.Thr1390=)
10g.75030059C>TCA209710457DUSP29,KAT6Bc.5235C>T (p.Thr1745=)
c.4686C>T (p.Thr1562=)
c.4359C>T (p.Thr1453=)
n.577-3465G>A
c.*3622-3465G>A (n.*3622-3465G>A)
c.5073C>T (p.Thr1691=)
c.4197C>T (p.Thr1399=)
c.3546C>T (p.Thr1182=)
c.3150C>T (p.Thr1050=)
c.2892C>T (p.Thr964=)
c.4170C>T (p.Thr1390=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.75030060T>ACA377300492DUSP29,KAT6Bc.5236T>A (p.Cys1746Ser)
c.4687T>A (p.Cys1563Ser)
c.4360T>A (p.Cys1454Ser)
n.577-3466A>T
c.*3622-3466A>T (n.*3622-3466A>T)
c.5074T>A (p.Cys1692Ser)
c.4198T>A (p.Cys1400Ser)
c.3547T>A (p.Cys1183Ser)
c.3151T>A (p.Cys1051Ser)
c.2893T>A (p.Cys965Ser)
c.4171T>A (p.Cys1391Ser)
10g.75030060T>CCA377300494DUSP29,KAT6Bc.5236T>C (p.Cys1746Arg)
c.4687T>C (p.Cys1563Arg)
c.4360T>C (p.Cys1454Arg)
n.577-3466A>G
c.*3622-3466A>G (n.*3622-3466A>G)
c.5074T>C (p.Cys1692Arg)
c.4198T>C (p.Cys1400Arg)
c.3547T>C (p.Cys1183Arg)
c.3151T>C (p.Cys1051Arg)
c.2893T>C (p.Cys965Arg)
c.4171T>C (p.Cys1391Arg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.75030060T>GCA377300496DUSP29,KAT6Bc.5236T>G (p.Cys1746Gly)
c.4687T>G (p.Cys1563Gly)
c.4360T>G (p.Cys1454Gly)
n.577-3466A>C
c.*3622-3466A>C (n.*3622-3466A>C)
c.5074T>G (p.Cys1692Gly)
c.4198T>G (p.Cys1400Gly)
c.3547T>G (p.Cys1183Gly)
c.3151T>G (p.Cys1051Gly)
c.2893T>G (p.Cys965Gly)
c.4171T>G (p.Cys1391Gly)
10g.75030060T=CA1920306924DUSP29,KAT6Bc.5236T= (p.Cys1746=)
c.4687T= (p.Cys1563=)
c.4360T= (p.Cys1454=)
n.577-3466A=
c.*3622-3466A= (n.*3622-3466A=)
c.5074T= (p.Cys1692=)
c.4198T= (p.Cys1400=)
c.3547T= (p.Cys1183=)
c.3151T= (p.Cys1051=)
c.2893T= (p.Cys965=)
c.4171T= (p.Cys1391=)
10g.75030061G>ACA377300498DUSP29,KAT6Bc.5237G>A (p.Cys1746Tyr)
c.4688G>A (p.Cys1563Tyr)
c.4361G>A (p.Cys1454Tyr)
n.577-3467C>T
c.*3622-3467C>T (n.*3622-3467C>T)
c.5075G>A (p.Cys1692Tyr)
c.4199G>A (p.Cys1400Tyr)
c.3548G>A (p.Cys1183Tyr)
c.3152G>A (p.Cys1051Tyr)
c.2894G>A (p.Cys965Tyr)
c.4172G>A (p.Cys1391Tyr)
10g.75030061G>CCA377300499DUSP29,KAT6Bc.5237G>C (p.Cys1746Ser)
c.4688G>C (p.Cys1563Ser)
c.4361G>C (p.Cys1454Ser)
n.577-3467C>G
c.*3622-3467C>G (n.*3622-3467C>G)
c.5075G>C (p.Cys1692Ser)
c.4199G>C (p.Cys1400Ser)
c.3548G>C (p.Cys1183Ser)
c.3152G>C (p.Cys1051Ser)
c.2894G>C (p.Cys965Ser)
c.4172G>C (p.Cys1391Ser)
 dbSNP
10g.75030061G>TCA377300501DUSP29,KAT6Bc.5237G>T (p.Cys1746Phe)
c.4688G>T (p.Cys1563Phe)
c.4361G>T (p.Cys1454Phe)
n.577-3467C>A
c.*3622-3467C>A (n.*3622-3467C>A)
c.5075G>T (p.Cys1692Phe)
c.4199G>T (p.Cys1400Phe)
c.3548G>T (p.Cys1183Phe)
c.3152G>T (p.Cys1051Phe)
c.2894G>T (p.Cys965Phe)
c.4172G>T (p.Cys1391Phe)
10g.75030062C>ACA377300505DUSP29,KAT6Bc.5238C>A (p.Cys1746Ter)
c.4689C>A (p.Cys1563Ter)
c.4362C>A (p.Cys1454Ter)
n.577-3468G>T
c.*3622-3468G>T (n.*3622-3468G>T)
c.5076C>A (p.Cys1692Ter)
c.4200C>A (p.Cys1400Ter)
c.3549C>A (p.Cys1183Ter)
c.3153C>A (p.Cys1051Ter)
c.2895C>A (p.Cys965Ter)
c.4173C>A (p.Cys1391Ter)
10g.75030062C>GCA377300504DUSP29,KAT6Bc.5238C>G (p.Cys1746Trp)
c.4689C>G (p.Cys1563Trp)
c.4362C>G (p.Cys1454Trp)
n.577-3468G>C
c.*3622-3468G>C (n.*3622-3468G>C)
c.5076C>G (p.Cys1692Trp)
c.4200C>G (p.Cys1400Trp)
c.3549C>G (p.Cys1183Trp)
c.3153C>G (p.Cys1051Trp)
c.2895C>G (p.Cys965Trp)
c.4173C>G (p.Cys1391Trp)
10g.75030062C>TCA470300766DUSP29,KAT6Bc.5238C>T (p.Cys1746=)
c.4689C>T (p.Cys1563=)
c.4362C>T (p.Cys1454=)
n.577-3468G>A
c.*3622-3468G>A (n.*3622-3468G>A)
c.5076C>T (p.Cys1692=)
c.4200C>T (p.Cys1400=)
c.3549C>T (p.Cys1183=)
c.3153C>T (p.Cys1051=)
c.2895C>T (p.Cys965=)
c.4173C>T (p.Cys1391=)
 dbSNP
10g.75030063A=CA1920306925DUSP29,KAT6Bc.5239A= (p.Ser1747=)
c.4690A= (p.Ser1564=)
c.4363A= (p.Ser1455=)
n.577-3469T=
c.*3622-3469T= (n.*3622-3469T=)
c.5077A= (p.Ser1693=)
c.4201A= (p.Ser1401=)
c.3550A= (p.Ser1184=)
c.3154A= (p.Ser1052=)
c.2896A= (p.Ser966=)
c.4174A= (p.Ser1392=)
10g.75030063A>CCA5565157DUSP29,KAT6Bc.5239A>C (p.Ser1747Arg)
c.4690A>C (p.Ser1564Arg)
c.4363A>C (p.Ser1455Arg)
n.577-3469T>G
c.*3622-3469T>G (n.*3622-3469T>G)
c.5077A>C (p.Ser1693Arg)
c.4201A>C (p.Ser1401Arg)
c.3550A>C (p.Ser1184Arg)
c.3154A>C (p.Ser1052Arg)
c.2896A>C (p.Ser966Arg)
c.4174A>C (p.Ser1392Arg)
 dbSNP ExAC
10g.75030063A>GCA377300510DUSP29,KAT6Bc.5239A>G (p.Ser1747Gly)
c.4690A>G (p.Ser1564Gly)
c.4363A>G (p.Ser1455Gly)
n.577-3469T>C
c.*3622-3469T>C (n.*3622-3469T>C)
c.5077A>G (p.Ser1693Gly)
c.4201A>G (p.Ser1401Gly)
c.3550A>G (p.Ser1184Gly)
c.3154A>G (p.Ser1052Gly)
c.2896A>G (p.Ser966Gly)
c.4174A>G (p.Ser1392Gly)
10g.75030063A>TCA377300508DUSP29,KAT6Bc.5239A>T (p.Ser1747Cys)
c.4690A>T (p.Ser1564Cys)
c.4363A>T (p.Ser1455Cys)
n.577-3469T>A
c.*3622-3469T>A (n.*3622-3469T>A)
c.5077A>T (p.Ser1693Cys)
c.4201A>T (p.Ser1401Cys)
c.3550A>T (p.Ser1184Cys)
c.3154A>T (p.Ser1052Cys)
c.2896A>T (p.Ser966Cys)
c.4174A>T (p.Ser1392Cys)
10g.75030064G>ACA377300512DUSP29,KAT6Bc.5240G>A (p.Ser1747Asn)
c.4691G>A (p.Ser1564Asn)
c.4364G>A (p.Ser1455Asn)
n.577-3470C>T
c.*3622-3470C>T (n.*3622-3470C>T)
c.5078G>A (p.Ser1693Asn)
c.4202G>A (p.Ser1401Asn)
c.3551G>A (p.Ser1184Asn)
c.3155G>A (p.Ser1052Asn)
c.2897G>A (p.Ser966Asn)
c.4175G>A (p.Ser1392Asn)
 dbSNP gnomAD v2 gnomAD v4
10g.75030064G>CCA377300514DUSP29,KAT6Bc.5240G>C (p.Ser1747Thr)
c.4691G>C (p.Ser1564Thr)
c.4364G>C (p.Ser1455Thr)
n.577-3470C>G
c.*3622-3470C>G (n.*3622-3470C>G)
c.5078G>C (p.Ser1693Thr)
c.4202G>C (p.Ser1401Thr)
c.3551G>C (p.Ser1184Thr)
c.3155G>C (p.Ser1052Thr)
c.2897G>C (p.Ser966Thr)
c.4175G>C (p.Ser1392Thr)
10g.75030064G=CA1920306926DUSP29,KAT6Bc.5240G= (p.Ser1747=)
c.4691G= (p.Ser1564=)
c.4364G= (p.Ser1455=)
n.577-3470C=
c.*3622-3470C= (n.*3622-3470C=)
c.5078G= (p.Ser1693=)
c.4202G= (p.Ser1401=)
c.3551G= (p.Ser1184=)
c.3155G= (p.Ser1052=)
c.2897G= (p.Ser966=)
c.4175G= (p.Ser1392=)
10g.75030064G>TCA377300516DUSP29,KAT6Bc.5240G>T (p.Ser1747Ile)
c.4691G>T (p.Ser1564Ile)
c.4364G>T (p.Ser1455Ile)
n.577-3470C>A
c.*3622-3470C>A (n.*3622-3470C>A)
c.5078G>T (p.Ser1693Ile)
c.4202G>T (p.Ser1401Ile)
c.3551G>T (p.Ser1184Ile)
c.3155G>T (p.Ser1052Ile)
c.2897G>T (p.Ser966Ile)
c.4175G>T (p.Ser1392Ile)
10g.75030065C>ACA377300518DUSP29,KAT6Bc.5241C>A (p.Ser1747Arg)
c.4692C>A (p.Ser1564Arg)
c.4365C>A (p.Ser1455Arg)
n.577-3471G>T
c.*3622-3471G>T (n.*3622-3471G>T)
c.5079C>A (p.Ser1693Arg)
c.4203C>A (p.Ser1401Arg)
c.3552C>A (p.Ser1184Arg)
c.3156C>A (p.Ser1052Arg)
c.2898C>A (p.Ser966Arg)
c.4176C>A (p.Ser1392Arg)
10g.75030065C=CA1920306927DUSP29,KAT6Bc.5241C= (p.Ser1747=)
c.4692C= (p.Ser1564=)
c.4365C= (p.Ser1455=)
n.577-3471G=
c.*3622-3471G= (n.*3622-3471G=)
c.5079C= (p.Ser1693=)
c.4203C= (p.Ser1401=)
c.3552C= (p.Ser1184=)
c.3156C= (p.Ser1052=)
c.2898C= (p.Ser966=)
c.4176C= (p.Ser1392=)
10g.75030065C>GCA377300520DUSP29,KAT6Bc.5241C>G (p.Ser1747Arg)
c.4692C>G (p.Ser1564Arg)
c.4365C>G (p.Ser1455Arg)
n.577-3471G>C
c.*3622-3471G>C (n.*3622-3471G>C)
c.5079C>G (p.Ser1693Arg)
c.4203C>G (p.Ser1401Arg)
c.3552C>G (p.Ser1184Arg)
c.3156C>G (p.Ser1052Arg)
c.2898C>G (p.Ser966Arg)
c.4176C>G (p.Ser1392Arg)
 dbSNP gnomAD v3 gnomAD v4
10g.75030065C>TCA470300767DUSP29,KAT6Bc.5241C>T (p.Ser1747=)
c.4692C>T (p.Ser1564=)
c.4365C>T (p.Ser1455=)
n.577-3471G>A
c.*3622-3471G>A (n.*3622-3471G>A)
c.5079C>T (p.Ser1693=)
c.4203C>T (p.Ser1401=)
c.3552C>T (p.Ser1184=)
c.3156C>T (p.Ser1052=)
c.2898C>T (p.Ser966=)
c.4176C>T (p.Ser1392=)
 dbSNP gnomAD v3 gnomAD v4
10g.75030066G>ACA5565158DUSP29,KAT6Bc.5242G>A (p.Val1748Ile)
c.4693G>A (p.Val1565Ile)
c.4366G>A (p.Val1456Ile)
n.577-3472C>T
c.*3622-3472C>T (n.*3622-3472C>T)
c.5080G>A (p.Val1694Ile)
c.4204G>A (p.Val1402Ile)
c.3553G>A (p.Val1185Ile)
c.3157G>A (p.Val1053Ile)
c.2899G>A (p.Val967Ile)
c.4177G>A (p.Val1393Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
10g.75030066G>CCA377300523DUSP29,KAT6Bc.5242G>C (p.Val1748Leu)
c.4693G>C (p.Val1565Leu)
c.4366G>C (p.Val1456Leu)
n.577-3472C>G
c.*3622-3472C>G (n.*3622-3472C>G)
c.5080G>C (p.Val1694Leu)
c.4204G>C (p.Val1402Leu)
c.3553G>C (p.Val1185Leu)
c.3157G>C (p.Val1053Leu)
c.2899G>C (p.Val967Leu)
c.4177G>C (p.Val1393Leu)
10g.75030066G=CA1920306928DUSP29,KAT6Bc.5242G= (p.Val1748=)
c.4693G= (p.Val1565=)
c.4366G= (p.Val1456=)
n.577-3472C=
c.*3622-3472C= (n.*3622-3472C=)
c.5080G= (p.Val1694=)
c.4204G= (p.Val1402=)
c.3553G= (p.Val1185=)
c.3157G= (p.Val1053=)
c.2899G= (p.Val967=)
c.4177G= (p.Val1393=)
10g.75030066G>TCA377300525DUSP29,KAT6Bc.5242G>T (p.Val1748Phe)
c.4693G>T (p.Val1565Phe)
c.4366G>T (p.Val1456Phe)
n.577-3472C>A
c.*3622-3472C>A (n.*3622-3472C>A)
c.5080G>T (p.Val1694Phe)
c.4204G>T (p.Val1402Phe)
c.3553G>T (p.Val1185Phe)
c.3157G>T (p.Val1053Phe)
c.2899G>T (p.Val967Phe)
c.4177G>T (p.Val1393Phe)
10g.75030067T>ACA377300527DUSP29,KAT6Bc.5243T>A (p.Val1748Asp)
c.4694T>A (p.Val1565Asp)
c.4367T>A (p.Val1456Asp)
n.577-3473A>T
c.*3622-3473A>T (n.*3622-3473A>T)
c.5081T>A (p.Val1694Asp)
c.4205T>A (p.Val1402Asp)
c.3554T>A (p.Val1185Asp)
c.3158T>A (p.Val1053Asp)
c.2900T>A (p.Val967Asp)
c.4178T>A (p.Val1393Asp)
10g.75030067T>CCA377300529DUSP29,KAT6Bc.5243T>C (p.Val1748Ala)
c.4694T>C (p.Val1565Ala)
c.4367T>C (p.Val1456Ala)
n.577-3473A>G
c.*3622-3473A>G (n.*3622-3473A>G)
c.5081T>C (p.Val1694Ala)
c.4205T>C (p.Val1402Ala)
c.3554T>C (p.Val1185Ala)
c.3158T>C (p.Val1053Ala)
c.2900T>C (p.Val967Ala)
c.4178T>C (p.Val1393Ala)
 ClinVar dbSNP gnomAD v4
10g.75030067T>GCA377300531DUSP29,KAT6Bc.5243T>G (p.Val1748Gly)
c.4694T>G (p.Val1565Gly)
c.4367T>G (p.Val1456Gly)
n.577-3473A>C
c.*3622-3473A>C (n.*3622-3473A>C)
c.5081T>G (p.Val1694Gly)
c.4205T>G (p.Val1402Gly)
c.3554T>G (p.Val1185Gly)
c.3158T>G (p.Val1053Gly)
c.2900T>G (p.Val967Gly)
c.4178T>G (p.Val1393Gly)
10g.75030067T=CA1920306929DUSP29,KAT6Bc.5243T= (p.Val1748=)
c.4694T= (p.Val1565=)
c.4367T= (p.Val1456=)
n.577-3473A=
c.*3622-3473A= (n.*3622-3473A=)
c.5081T= (p.Val1694=)
c.4205T= (p.Val1402=)
c.3554T= (p.Val1185=)
c.3158T= (p.Val1053=)
c.2900T= (p.Val967=)
c.4178T= (p.Val1393=)
10g.75030068C>ACA470300768DUSP29,KAT6Bc.5244C>A (p.Val1748=)
c.4695C>A (p.Val1565=)
c.4368C>A (p.Val1456=)
n.577-3474G>T
c.*3622-3474G>T (n.*3622-3474G>T)
c.5082C>A (p.Val1694=)
c.4206C>A (p.Val1402=)
c.3555C>A (p.Val1185=)
c.3159C>A (p.Val1053=)
c.2901C>A (p.Val967=)
c.4179C>A (p.Val1393=)
 gnomAD v4
10g.75030068C>GCA470300769DUSP29,KAT6Bc.5244C>G (p.Val1748=)
c.4695C>G (p.Val1565=)
c.4368C>G (p.Val1456=)
n.577-3474G>C
c.*3622-3474G>C (n.*3622-3474G>C)
c.5082C>G (p.Val1694=)
c.4206C>G (p.Val1402=)
c.3555C>G (p.Val1185=)
c.3159C>G (p.Val1053=)
c.2901C>G (p.Val967=)
c.4179C>G (p.Val1393=)
10g.75030068C>TCA470300770DUSP29,KAT6Bc.5244C>T (p.Val1748=)
c.4695C>T (p.Val1565=)
c.4368C>T (p.Val1456=)
n.577-3474G>A
c.*3622-3474G>A (n.*3622-3474G>A)
c.5082C>T (p.Val1694=)
c.4206C>T (p.Val1402=)
c.3555C>T (p.Val1185=)
c.3159C>T (p.Val1053=)
c.2901C>T (p.Val967=)
c.4179C>T (p.Val1393=)
10g.75030069A=CA1920306930DUSP29,KAT6Bc.5245A= (p.Lys1749=)
c.4696A= (p.Lys1566=)
c.4369A= (p.Lys1457=)
n.577-3475T=
c.*3622-3475T= (n.*3622-3475T=)
c.5083A= (p.Lys1695=)
c.4207A= (p.Lys1403=)
c.3556A= (p.Lys1186=)
c.3160A= (p.Lys1054=)
c.2902A= (p.Lys968=)
c.4180A= (p.Lys1394=)
10g.75030069A>CCA5565159DUSP29,KAT6Bc.5245A>C (p.Lys1749Gln)
c.4696A>C (p.Lys1566Gln)
c.4369A>C (p.Lys1457Gln)
n.577-3475T>G
c.*3622-3475T>G (n.*3622-3475T>G)
c.5083A>C (p.Lys1695Gln)
c.4207A>C (p.Lys1403Gln)
c.3556A>C (p.Lys1186Gln)
c.3160A>C (p.Lys1054Gln)
c.2902A>C (p.Lys968Gln)
c.4180A>C (p.Lys1394Gln)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.75030069A>GCA377300536DUSP29,KAT6Bc.5245A>G (p.Lys1749Glu)
c.4696A>G (p.Lys1566Glu)
c.4369A>G (p.Lys1457Glu)
n.577-3475T>C
c.*3622-3475T>C (n.*3622-3475T>C)
c.5083A>G (p.Lys1695Glu)
c.4207A>G (p.Lys1403Glu)
c.3556A>G (p.Lys1186Glu)
c.3160A>G (p.Lys1054Glu)
c.2902A>G (p.Lys968Glu)
c.4180A>G (p.Lys1394Glu)
10g.75030069A>TCA377300533DUSP29,KAT6Bc.5245A>T (p.Lys1749Ter)
c.4696A>T (p.Lys1566Ter)
c.4369A>T (p.Lys1457Ter)
n.577-3475T>A
c.*3622-3475T>A (n.*3622-3475T>A)
c.5083A>T (p.Lys1695Ter)
c.4207A>T (p.Lys1403Ter)
c.3556A>T (p.Lys1186Ter)
c.3160A>T (p.Lys1054Ter)
c.2902A>T (p.Lys968Ter)
c.4180A>T (p.Lys1394Ter)
10g.75030070A>CCA377300539DUSP29,KAT6Bc.5246A>C (p.Lys1749Thr)
c.4697A>C (p.Lys1566Thr)
c.4370A>C (p.Lys1457Thr)
n.577-3476T>G
c.*3622-3476T>G (n.*3622-3476T>G)
c.5084A>C (p.Lys1695Thr)
c.4208A>C (p.Lys1403Thr)
c.3557A>C (p.Lys1186Thr)
c.3161A>C (p.Lys1054Thr)
c.2903A>C (p.Lys968Thr)
c.4181A>C (p.Lys1394Thr)
10g.75030070A>GCA377300540DUSP29,KAT6Bc.5246A>G (p.Lys1749Arg)
c.4697A>G (p.Lys1566Arg)
c.4370A>G (p.Lys1457Arg)
n.577-3476T>C
c.*3622-3476T>C (n.*3622-3476T>C)
c.5084A>G (p.Lys1695Arg)
c.4208A>G (p.Lys1403Arg)
c.3557A>G (p.Lys1186Arg)
c.3161A>G (p.Lys1054Arg)
c.2903A>G (p.Lys968Arg)
c.4181A>G (p.Lys1394Arg)
10g.75030070A>TCA377300542DUSP29,KAT6Bc.5246A>T (p.Lys1749Met)
c.4697A>T (p.Lys1566Met)
c.4370A>T (p.Lys1457Met)
n.577-3476T>A
c.*3622-3476T>A (n.*3622-3476T>A)
c.5084A>T (p.Lys1695Met)
c.4208A>T (p.Lys1403Met)
c.3557A>T (p.Lys1186Met)
c.3161A>T (p.Lys1054Met)
c.2903A>T (p.Lys968Met)
c.4181A>T (p.Lys1394Met)
10g.75030071G>ACA470300771DUSP29,KAT6Bc.5247G>A (p.Lys1749=)
c.4698G>A (p.Lys1566=)
c.4371G>A (p.Lys1457=)
n.577-3477C>T
c.*3622-3477C>T (n.*3622-3477C>T)
c.5085G>A (p.Lys1695=)
c.4209G>A (p.Lys1403=)
c.3558G>A (p.Lys1186=)
c.3162G>A (p.Lys1054=)
c.2904G>A (p.Lys968=)
c.4182G>A (p.Lys1394=)
10g.75030071G>CCA377300544DUSP29,KAT6Bc.5247G>C (p.Lys1749Asn)
c.4698G>C (p.Lys1566Asn)
c.4371G>C (p.Lys1457Asn)
n.577-3477C>G
c.*3622-3477C>G (n.*3622-3477C>G)
c.5085G>C (p.Lys1695Asn)
c.4209G>C (p.Lys1403Asn)
c.3558G>C (p.Lys1186Asn)
c.3162G>C (p.Lys1054Asn)
c.2904G>C (p.Lys968Asn)
c.4182G>C (p.Lys1394Asn)
10g.75030071G>TCA377300545DUSP29,KAT6Bc.5247G>T (p.Lys1749Asn)
c.4698G>T (p.Lys1566Asn)
c.4371G>T (p.Lys1457Asn)
n.577-3477C>A
c.*3622-3477C>A (n.*3622-3477C>A)
c.5085G>T (p.Lys1695Asn)
c.4209G>T (p.Lys1403Asn)
c.3558G>T (p.Lys1186Asn)
c.3162G>T (p.Lys1054Asn)
c.2904G>T (p.Lys968Asn)
c.4182G>T (p.Lys1394Asn)
10g.75030072T>ACA377300547DUSP29,KAT6Bc.5248T>A (p.Ser1750Thr)
c.4699T>A (p.Ser1567Thr)
c.4372T>A (p.Ser1458Thr)
n.577-3478A>T
c.*3622-3478A>T (n.*3622-3478A>T)
c.5086T>A (p.Ser1696Thr)
c.4210T>A (p.Ser1404Thr)
c.3559T>A (p.Ser1187Thr)
c.3163T>A (p.Ser1055Thr)
c.2905T>A (p.Ser969Thr)
c.4183T>A (p.Ser1395Thr)
10g.75030072T>CCA377300548DUSP29,KAT6Bc.5248T>C (p.Ser1750Pro)
c.4699T>C (p.Ser1567Pro)
c.4372T>C (p.Ser1458Pro)
n.577-3478A>G
c.*3622-3478A>G (n.*3622-3478A>G)
c.5086T>C (p.Ser1696Pro)
c.4210T>C (p.Ser1404Pro)
c.3559T>C (p.Ser1187Pro)
c.3163T>C (p.Ser1055Pro)
c.2905T>C (p.Ser969Pro)
c.4183T>C (p.Ser1395Pro)
10g.75030072T>GCA377300550DUSP29,KAT6Bc.5248T>G (p.Ser1750Ala)
c.4699T>G (p.Ser1567Ala)
c.4372T>G (p.Ser1458Ala)
n.577-3478A>C
c.*3622-3478A>C (n.*3622-3478A>C)
c.5086T>G (p.Ser1696Ala)
c.4210T>G (p.Ser1404Ala)
c.3559T>G (p.Ser1187Ala)
c.3163T>G (p.Ser1055Ala)
c.2905T>G (p.Ser969Ala)
c.4183T>G (p.Ser1395Ala)
10g.75030072_75030075delinsTCTCCA1920306931DUSP29,KAT6Bc.5248_5251delinsTCTC (p.Ser1750=)
c.4699_4702delinsTCTC (p.Ser1567=)
c.4372_4375delinsTCTC (p.Ser1458=)
n.577-3481_577-3478delinsGAGA
c.*3622-3481_*3622-3478delinsGAGA (n.*3622-3481_*3622-3478delinsGAGA)
c.5086_5089delinsTCTC (p.Ser1696=)
c.4210_4213delinsTCTC (p.Ser1404=)
c.3559_3562delinsTCTC (p.Ser1187=)
c.3163_3166delinsTCTC (p.Ser1055=)
c.2905_2908delinsTCTC (p.Ser969=)
c.4183_4186delinsTCTC (p.Ser1395=)
10g.75030073C>ACA377300553DUSP29,KAT6Bc.5249C>A (p.Ser1750Tyr)
c.4700C>A (p.Ser1567Tyr)
c.4373C>A (p.Ser1458Tyr)
n.577-3479G>T
c.*3622-3479G>T (n.*3622-3479G>T)
c.5087C>A (p.Ser1696Tyr)
c.4211C>A (p.Ser1404Tyr)
c.3560C>A (p.Ser1187Tyr)
c.3164C>A (p.Ser1055Tyr)
c.2906C>A (p.Ser969Tyr)
c.4184C>A (p.Ser1395Tyr)
10g.75030073C>GCA377300555DUSP29,KAT6Bc.5249C>G (p.Ser1750Cys)
c.4700C>G (p.Ser1567Cys)
c.4373C>G (p.Ser1458Cys)
n.577-3479G>C
c.*3622-3479G>C (n.*3622-3479G>C)
c.5087C>G (p.Ser1696Cys)
c.4211C>G (p.Ser1404Cys)
c.3560C>G (p.Ser1187Cys)
c.3164C>G (p.Ser1055Cys)
c.2906C>G (p.Ser969Cys)
c.4184C>G (p.Ser1395Cys)
10g.75030073C>TCA377300556DUSP29,KAT6Bc.5249C>T (p.Ser1750Phe)
c.4700C>T (p.Ser1567Phe)
c.4373C>T (p.Ser1458Phe)
n.577-3479G>A
c.*3622-3479G>A (n.*3622-3479G>A)
c.5087C>T (p.Ser1696Phe)
c.4211C>T (p.Ser1404Phe)
c.3560C>T (p.Ser1187Phe)
c.3164C>T (p.Ser1055Phe)
c.2906C>T (p.Ser969Phe)
c.4184C>T (p.Ser1395Phe)
10g.75030076_75030078delCA5565160DUSP29,KAT6Bc.5252_5254del (p.Pro1751del)
c.4703_4705del (p.Pro1568del)
c.4376_4378del (p.Pro1459del)
n.577-3481_577-3479del
c.*3622-3481_*3622-3479del (n.*3622-3481_*3622-3479del)
c.5090_5092del (p.Pro1697del)
c.4214_4216del (p.Pro1405del)
c.3563_3565del (p.Pro1188del)
c.3167_3169del (p.Pro1056del)
c.2909_2911del (p.Pro970del)
c.4187_4189del (p.Pro1396del)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.75030074T>ACA470300772DUSP29,KAT6Bc.5250T>A (p.Ser1750=)
c.4701T>A (p.Ser1567=)
c.4374T>A (p.Ser1458=)
n.577-3480A>T
c.*3622-3480A>T (n.*3622-3480A>T)
c.5088T>A (p.Ser1696=)
c.4212T>A (p.Ser1404=)
c.3561T>A (p.Ser1187=)
c.3165T>A (p.Ser1055=)
c.2907T>A (p.Ser969=)
c.4185T>A (p.Ser1395=)
 dbSNP gnomAD v3 gnomAD v4
10g.75030074T>CCA470300773DUSP29,KAT6Bc.5250T>C (p.Ser1750=)
c.4701T>C (p.Ser1567=)
c.4374T>C (p.Ser1458=)
n.577-3480A>G
c.*3622-3480A>G (n.*3622-3480A>G)
c.5088T>C (p.Ser1696=)
c.4212T>C (p.Ser1404=)
c.3561T>C (p.Ser1187=)
c.3165T>C (p.Ser1055=)
c.2907T>C (p.Ser969=)
c.4185T>C (p.Ser1395=)
10g.75030074T>GCA470300774DUSP29,KAT6Bc.5250T>G (p.Ser1750=)
c.4701T>G (p.Ser1567=)
c.4374T>G (p.Ser1458=)
n.577-3480A>C
c.*3622-3480A>C (n.*3622-3480A>C)
c.5088T>G (p.Ser1696=)
c.4212T>G (p.Ser1404=)
c.3561T>G (p.Ser1187=)
c.3165T>G (p.Ser1055=)
c.2907T>G (p.Ser969=)
c.4185T>G (p.Ser1395=)
10g.75030074T=CA1920306932DUSP29,KAT6Bc.5250T= (p.Ser1750=)
c.4701T= (p.Ser1567=)
c.4374T= (p.Ser1458=)
n.577-3480A=
c.*3622-3480A= (n.*3622-3480A=)
c.5088T= (p.Ser1696=)
c.4212T= (p.Ser1404=)
c.3561T= (p.Ser1187=)
c.3165T= (p.Ser1055=)
c.2907T= (p.Ser969=)
c.4185T= (p.Ser1395=)
10g.75030075C>ACA377300562DUSP29,KAT6Bc.5251C>A (p.Pro1751Thr)
c.4702C>A (p.Pro1568Thr)
c.4375C>A (p.Pro1459Thr)
n.577-3481G>T
c.*3622-3481G>T (n.*3622-3481G>T)
c.5089C>A (p.Pro1697Thr)
c.4213C>A (p.Pro1405Thr)
c.3562C>A (p.Pro1188Thr)
c.3166C>A (p.Pro1056Thr)
c.2908C>A (p.Pro970Thr)
c.4186C>A (p.Pro1396Thr)
10g.75030075C=CA1920306933DUSP29,KAT6Bc.5251C= (p.Pro1751=)
c.4702C= (p.Pro1568=)
c.4375C= (p.Pro1459=)
n.577-3481G=
c.*3622-3481G= (n.*3622-3481G=)
c.5089C= (p.Pro1697=)
c.4213C= (p.Pro1405=)
c.3562C= (p.Pro1188=)
c.3166C= (p.Pro1056=)
c.2908C= (p.Pro970=)
c.4186C= (p.Pro1396=)
10g.75030075C>GCA10603068DUSP29,KAT6Bc.5251C>G (p.Pro1751Ala)
c.4702C>G (p.Pro1568Ala)
c.4375C>G (p.Pro1459Ala)
n.577-3481G>C
c.*3622-3481G>C (n.*3622-3481G>C)
c.5089C>G (p.Pro1697Ala)
c.4213C>G (p.Pro1405Ala)
c.3562C>G (p.Pro1188Ala)
c.3166C>G (p.Pro1056Ala)
c.2908C>G (p.Pro970Ala)
c.4186C>G (p.Pro1396Ala)
 ClinVar dbSNP gnomAD v3 gnomAD v4
10g.75030075C>TCA5565161DUSP29,KAT6Bc.5251C>T (p.Pro1751Ser)
c.4702C>T (p.Pro1568Ser)
c.4375C>T (p.Pro1459Ser)
n.577-3481G>A
c.*3622-3481G>A (n.*3622-3481G>A)
c.5089C>T (p.Pro1697Ser)
c.4213C>T (p.Pro1405Ser)
c.3562C>T (p.Pro1188Ser)
c.3166C>T (p.Pro1056Ser)
c.2908C>T (p.Pro970Ser)
c.4186C>T (p.Pro1396Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.75030076C>ACA377300563DUSP29,KAT6Bc.5252C>A (p.Pro1751His)
c.4703C>A (p.Pro1568His)
c.4376C>A (p.Pro1459His)
n.577-3482G>T
c.*3622-3482G>T (n.*3622-3482G>T)
c.5090C>A (p.Pro1697His)
c.4214C>A (p.Pro1405His)
c.3563C>A (p.Pro1188His)
c.3167C>A (p.Pro1056His)
c.2909C>A (p.Pro970His)
c.4187C>A (p.Pro1396His)
10g.75030076C>GCA377300566DUSP29,KAT6Bc.5252C>G (p.Pro1751Arg)
c.4703C>G (p.Pro1568Arg)
c.4376C>G (p.Pro1459Arg)
n.577-3482G>C
c.*3622-3482G>C (n.*3622-3482G>C)
c.5090C>G (p.Pro1697Arg)
c.4214C>G (p.Pro1405Arg)
c.3563C>G (p.Pro1188Arg)
c.3167C>G (p.Pro1056Arg)
c.2909C>G (p.Pro970Arg)
c.4187C>G (p.Pro1396Arg)
10g.75030076C>TCA377300564DUSP29,KAT6Bc.5252C>T (p.Pro1751Leu)
c.4703C>T (p.Pro1568Leu)
c.4376C>T (p.Pro1459Leu)
n.577-3482G>A
c.*3622-3482G>A (n.*3622-3482G>A)
c.5090C>T (p.Pro1697Leu)
c.4214C>T (p.Pro1405Leu)
c.3563C>T (p.Pro1188Leu)
c.3167C>T (p.Pro1056Leu)
c.2909C>T (p.Pro970Leu)
c.4187C>T (p.Pro1396Leu)
 ClinVar COSMIC
10g.75030077T>ACA470300775DUSP29,KAT6Bc.5253T>A (p.Pro1751=)
c.4704T>A (p.Pro1568=)
c.4377T>A (p.Pro1459=)
n.577-3483A>T
c.*3622-3483A>T (n.*3622-3483A>T)
c.5091T>A (p.Pro1697=)
c.4215T>A (p.Pro1405=)
c.3564T>A (p.Pro1188=)
c.3168T>A (p.Pro1056=)
c.2910T>A (p.Pro970=)
c.4188T>A (p.Pro1396=)
10g.75030077T>CCA470300776DUSP29,KAT6Bc.5253T>C (p.Pro1751=)
c.4704T>C (p.Pro1568=)
c.4377T>C (p.Pro1459=)
n.577-3483A>G
c.*3622-3483A>G (n.*3622-3483A>G)
c.5091T>C (p.Pro1697=)
c.4215T>C (p.Pro1405=)
c.3564T>C (p.Pro1188=)
c.3168T>C (p.Pro1056=)
c.2910T>C (p.Pro970=)
c.4188T>C (p.Pro1396=)
10g.75030077T>GCA470300777DUSP29,KAT6Bc.5253T>G (p.Pro1751=)
c.4704T>G (p.Pro1568=)
c.4377T>G (p.Pro1459=)
n.577-3483A>C
c.*3622-3483A>C (n.*3622-3483A>C)
c.5091T>G (p.Pro1697=)
c.4215T>G (p.Pro1405=)
c.3564T>G (p.Pro1188=)
c.3168T>G (p.Pro1056=)
c.2910T>G (p.Pro970=)
c.4188T>G (p.Pro1396=)
10g.75030078C>ACA377300568DUSP29,KAT6Bc.5254C>A (p.Gln1752Lys)
c.4705C>A (p.Gln1569Lys)
c.4378C>A (p.Gln1460Lys)
n.577-3484G>T
c.*3622-3484G>T (n.*3622-3484G>T)
c.5092C>A (p.Gln1698Lys)
c.4216C>A (p.Gln1406Lys)
c.3565C>A (p.Gln1189Lys)
c.3169C>A (p.Gln1057Lys)
c.2911C>A (p.Gln971Lys)
c.4189C>A (p.Gln1397Lys)
10g.75030078C=CA1920306934DUSP29,KAT6Bc.5254C= (p.Gln1752=)
c.4705C= (p.Gln1569=)
c.4378C= (p.Gln1460=)
n.577-3484G=
c.*3622-3484G= (n.*3622-3484G=)
c.5092C= (p.Gln1698=)
c.4216C= (p.Gln1406=)
c.3565C= (p.Gln1189=)
c.3169C= (p.Gln1057=)
c.2911C= (p.Gln971=)
c.4189C= (p.Gln1397=)
10g.75030078C>GCA209710470DUSP29,KAT6Bc.5254C>G (p.Gln1752Glu)
c.4705C>G (p.Gln1569Glu)
c.4378C>G (p.Gln1460Glu)
n.577-3484G>C
c.*3622-3484G>C (n.*3622-3484G>C)
c.5092C>G (p.Gln1698Glu)
c.4216C>G (p.Gln1406Glu)
c.3565C>G (p.Gln1189Glu)
c.3169C>G (p.Gln1057Glu)
c.2911C>G (p.Gln971Glu)
c.4189C>G (p.Gln1397Glu)
 ClinVar dbSNP gnomAD v4
10g.75030078C>TCA377300570DUSP29,KAT6Bc.5254C>T (p.Gln1752Ter)
c.4705C>T (p.Gln1569Ter)
c.4378C>T (p.Gln1460Ter)
n.577-3484G>A
c.*3622-3484G>A (n.*3622-3484G>A)
c.5092C>T (p.Gln1698Ter)
c.4216C>T (p.Gln1406Ter)
c.3565C>T (p.Gln1189Ter)
c.3169C>T (p.Gln1057Ter)
c.2911C>T (p.Gln971Ter)
c.4189C>T (p.Gln1397Ter)
 ClinVar dbSNP
10g.75030079A>CCA377300573DUSP29,KAT6Bc.5255A>C (p.Gln1752Pro)
c.4706A>C (p.Gln1569Pro)
c.4379A>C (p.Gln1460Pro)
n.577-3485T>G
c.*3622-3485T>G (n.*3622-3485T>G)
c.5093A>C (p.Gln1698Pro)
c.4217A>C (p.Gln1406Pro)
c.3566A>C (p.Gln1189Pro)
c.3170A>C (p.Gln1057Pro)
c.2912A>C (p.Gln971Pro)
c.4190A>C (p.Gln1397Pro)
10g.75030079A>GCA377300575DUSP29,KAT6Bc.5255A>G (p.Gln1752Arg)
c.4706A>G (p.Gln1569Arg)
c.4379A>G (p.Gln1460Arg)
n.577-3485T>C
c.*3622-3485T>C (n.*3622-3485T>C)
c.5093A>G (p.Gln1698Arg)
c.4217A>G (p.Gln1406Arg)
c.3566A>G (p.Gln1189Arg)
c.3170A>G (p.Gln1057Arg)
c.2912A>G (p.Gln971Arg)
c.4190A>G (p.Gln1397Arg)
10g.75030079A>TCA377300577DUSP29,KAT6Bc.5255A>T (p.Gln1752Leu)
c.4706A>T (p.Gln1569Leu)
c.4379A>T (p.Gln1460Leu)
n.577-3485T>A
c.*3622-3485T>A (n.*3622-3485T>A)
c.5093A>T (p.Gln1698Leu)
c.4217A>T (p.Gln1406Leu)
c.3566A>T (p.Gln1189Leu)
c.3170A>T (p.Gln1057Leu)
c.2912A>T (p.Gln971Leu)
c.4190A>T (p.Gln1397Leu)
10g.75030080A>CCA377300579DUSP29,KAT6Bc.5256A>C (p.Gln1752His)
c.4707A>C (p.Gln1569His)
c.4380A>C (p.Gln1460His)
n.577-3486T>G
c.*3622-3486T>G (n.*3622-3486T>G)
c.5094A>C (p.Gln1698His)
c.4218A>C (p.Gln1406His)
c.3567A>C (p.Gln1189His)
c.3171A>C (p.Gln1057His)
c.2913A>C (p.Gln971His)
c.4191A>C (p.Gln1397His)
10g.75030080A>GCA470300778DUSP29,KAT6Bc.5256A>G (p.Gln1752=)
c.4707A>G (p.Gln1569=)
c.4380A>G (p.Gln1460=)
n.577-3486T>C
c.*3622-3486T>C (n.*3622-3486T>C)
c.5094A>G (p.Gln1698=)
c.4218A>G (p.Gln1406=)
c.3567A>G (p.Gln1189=)
c.3171A>G (p.Gln1057=)
c.2913A>G (p.Gln971=)
c.4191A>G (p.Gln1397=)
10g.75030080A>TCA377300580DUSP29,KAT6Bc.5256A>T (p.Gln1752His)
c.4707A>T (p.Gln1569His)
c.4380A>T (p.Gln1460His)
n.577-3486T>A
c.*3622-3486T>A (n.*3622-3486T>A)
c.5094A>T (p.Gln1698His)
c.4218A>T (p.Gln1406His)
c.3567A>T (p.Gln1189His)
c.3171A>T (p.Gln1057His)
c.2913A>T (p.Gln971His)
c.4191A>T (p.Gln1397His)
10g.75030081G>ACA377300582DUSP29,KAT6Bc.5257G>A (p.Gly1753Ser)
c.4708G>A (p.Gly1570Ser)
c.4381G>A (p.Gly1461Ser)
n.577-3487C>T
c.*3622-3487C>T (n.*3622-3487C>T)
c.5095G>A (p.Gly1699Ser)
c.4219G>A (p.Gly1407Ser)
c.3568G>A (p.Gly1190Ser)
c.3172G>A (p.Gly1058Ser)
c.2914G>A (p.Gly972Ser)
c.4192G>A (p.Gly1398Ser)
10g.75030081G>CCA377300584DUSP29,KAT6Bc.5257G>C (p.Gly1753Arg)
c.4708G>C (p.Gly1570Arg)
c.4381G>C (p.Gly1461Arg)
n.577-3487C>G
c.*3622-3487C>G (n.*3622-3487C>G)
c.5095G>C (p.Gly1699Arg)
c.4219G>C (p.Gly1407Arg)
c.3568G>C (p.Gly1190Arg)
c.3172G>C (p.Gly1058Arg)
c.2914G>C (p.Gly972Arg)
c.4192G>C (p.Gly1398Arg)
10g.75030081G=CA1920306935DUSP29,KAT6Bc.5257G= (p.Gly1753=)
c.4708G= (p.Gly1570=)
c.4381G= (p.Gly1461=)
n.577-3487C=
c.*3622-3487C= (n.*3622-3487C=)
c.5095G= (p.Gly1699=)
c.4219G= (p.Gly1407=)
c.3568G= (p.Gly1190=)
c.3172G= (p.Gly1058=)
c.2914G= (p.Gly972=)
c.4192G= (p.Gly1398=)
10g.75030081G>TCA377300586DUSP29,KAT6Bc.5257G>T (p.Gly1753Cys)
c.4708G>T (p.Gly1570Cys)
c.4381G>T (p.Gly1461Cys)
n.577-3487C>A
c.*3622-3487C>A (n.*3622-3487C>A)
c.5095G>T (p.Gly1699Cys)
c.4219G>T (p.Gly1407Cys)
c.3568G>T (p.Gly1190Cys)
c.3172G>T (p.Gly1058Cys)
c.2914G>T (p.Gly972Cys)
c.4192G>T (p.Gly1398Cys)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.75030082G>ACA377300588DUSP29,KAT6Bc.5258G>A (p.Gly1753Asp)
c.4709G>A (p.Gly1570Asp)
c.4382G>A (p.Gly1461Asp)
n.577-3488C>T
c.*3622-3488C>T (n.*3622-3488C>T)
c.5096G>A (p.Gly1699Asp)
c.4220G>A (p.Gly1407Asp)
c.3569G>A (p.Gly1190Asp)
c.3173G>A (p.Gly1058Asp)
c.2915G>A (p.Gly972Asp)
c.4193G>A (p.Gly1398Asp)
10g.75030082G>CCA209710474DUSP29,KAT6Bc.5258G>C (p.Gly1753Ala)
c.4709G>C (p.Gly1570Ala)
c.4382G>C (p.Gly1461Ala)
n.577-3488C>G
c.*3622-3488C>G (n.*3622-3488C>G)
c.5096G>C (p.Gly1699Ala)
c.4220G>C (p.Gly1407Ala)
c.3569G>C (p.Gly1190Ala)
c.3173G>C (p.Gly1058Ala)
c.2915G>C (p.Gly972Ala)
c.4193G>C (p.Gly1398Ala)
 dbSNP gnomAD v2 gnomAD v4
10g.75030082G=CA1920306936DUSP29,KAT6Bc.5258G= (p.Gly1753=)
c.4709G= (p.Gly1570=)
c.4382G= (p.Gly1461=)
n.577-3488C=
c.*3622-3488C= (n.*3622-3488C=)
c.5096G= (p.Gly1699=)
c.4220G= (p.Gly1407=)
c.3569G= (p.Gly1190=)
c.3173G= (p.Gly1058=)
c.2915G= (p.Gly972=)
c.4193G= (p.Gly1398=)
10g.75030082G>TCA377300591DUSP29,KAT6Bc.5258G>T (p.Gly1753Val)
c.4709G>T (p.Gly1570Val)
c.4382G>T (p.Gly1461Val)
n.577-3488C>A
c.*3622-3488C>A (n.*3622-3488C>A)
c.5096G>T (p.Gly1699Val)
c.4220G>T (p.Gly1407Val)
c.3569G>T (p.Gly1190Val)
c.3173G>T (p.Gly1058Val)
c.2915G>T (p.Gly972Val)
c.4193G>T (p.Gly1398Val)
10g.75030083C>ACA470300779DUSP29,KAT6Bc.5259C>A (p.Gly1753=)
c.4710C>A (p.Gly1570=)
c.4383C>A (p.Gly1461=)
n.577-3489G>T
c.*3622-3489G>T (n.*3622-3489G>T)
c.5097C>A (p.Gly1699=)
c.4221C>A (p.Gly1407=)
c.3570C>A (p.Gly1190=)
c.3174C>A (p.Gly1058=)
c.2916C>A (p.Gly972=)
c.4194C>A (p.Gly1398=)
10g.75030083C>GCA470300780DUSP29,KAT6Bc.5259C>G (p.Gly1753=)
c.4710C>G (p.Gly1570=)
c.4383C>G (p.Gly1461=)
n.577-3489G>C
c.*3622-3489G>C (n.*3622-3489G>C)
c.5097C>G (p.Gly1699=)
c.4221C>G (p.Gly1407=)
c.3570C>G (p.Gly1190=)
c.3174C>G (p.Gly1058=)
c.2916C>G (p.Gly972=)
c.4194C>G (p.Gly1398=)
10g.75030083C>TCA470300781DUSP29,KAT6Bc.5259C>T (p.Gly1753=)
c.4710C>T (p.Gly1570=)
c.4383C>T (p.Gly1461=)
n.577-3489G>A
c.*3622-3489G>A (n.*3622-3489G>A)
c.5097C>T (p.Gly1699=)
c.4221C>T (p.Gly1407=)
c.3570C>T (p.Gly1190=)
c.3174C>T (p.Gly1058=)
c.2916C>T (p.Gly972=)
c.4194C>T (p.Gly1398=)
10g.75030084T>ACA377300593DUSP29,KAT6Bc.5260T>A (p.Cys1754Ser)
c.4711T>A (p.Cys1571Ser)
c.4384T>A (p.Cys1462Ser)
n.577-3490A>T
c.*3622-3490A>T (n.*3622-3490A>T)
c.5098T>A (p.Cys1700Ser)
c.4222T>A (p.Cys1408Ser)
c.3571T>A (p.Cys1191Ser)
c.3175T>A (p.Cys1059Ser)
c.2917T>A (p.Cys973Ser)
c.4195T>A (p.Cys1399Ser)
10g.75030084T>CCA377300597DUSP29,KAT6Bc.5260T>C (p.Cys1754Arg)
c.4711T>C (p.Cys1571Arg)
c.4384T>C (p.Cys1462Arg)
n.577-3490A>G
c.*3622-3490A>G (n.*3622-3490A>G)
c.5098T>C (p.Cys1700Arg)
c.4222T>C (p.Cys1408Arg)
c.3571T>C (p.Cys1191Arg)
c.3175T>C (p.Cys1059Arg)
c.2917T>C (p.Cys973Arg)
c.4195T>C (p.Cys1399Arg)
10g.75030084T>GCA377300595DUSP29,KAT6Bc.5260T>G (p.Cys1754Gly)
c.4711T>G (p.Cys1571Gly)
c.4384T>G (p.Cys1462Gly)
n.577-3490A>C
c.*3622-3490A>C (n.*3622-3490A>C)
c.5098T>G (p.Cys1700Gly)
c.4222T>G (p.Cys1408Gly)
c.3571T>G (p.Cys1191Gly)
c.3175T>G (p.Cys1059Gly)
c.2917T>G (p.Cys973Gly)
c.4195T>G (p.Cys1399Gly)
 ClinVar dbSNP
10g.75030085G>ACA377300599DUSP29,KAT6Bc.5261G>A (p.Cys1754Tyr)
c.4712G>A (p.Cys1571Tyr)
c.4385G>A (p.Cys1462Tyr)
n.577-3491C>T
c.*3622-3491C>T (n.*3622-3491C>T)
c.5099G>A (p.Cys1700Tyr)
c.4223G>A (p.Cys1408Tyr)
c.3572G>A (p.Cys1191Tyr)
c.3176G>A (p.Cys1059Tyr)
c.2918G>A (p.Cys973Tyr)
c.4196G>A (p.Cys1399Tyr)
 gnomAD v4
10g.75030085G>CCA377300601DUSP29,KAT6Bc.5261G>C (p.Cys1754Ser)
c.4712G>C (p.Cys1571Ser)
c.4385G>C (p.Cys1462Ser)
n.577-3491C>G
c.*3622-3491C>G (n.*3622-3491C>G)
c.5099G>C (p.Cys1700Ser)
c.4223G>C (p.Cys1408Ser)
c.3572G>C (p.Cys1191Ser)
c.3176G>C (p.Cys1059Ser)
c.2918G>C (p.Cys973Ser)
c.4196G>C (p.Cys1399Ser)
 gnomAD v4
10g.75030085G=CA1920306937DUSP29,KAT6Bc.5261G= (p.Cys1754=)
c.4712G= (p.Cys1571=)
c.4385G= (p.Cys1462=)
n.577-3491C=
c.*3622-3491C= (n.*3622-3491C=)
c.5099G= (p.Cys1700=)
c.4223G= (p.Cys1408=)
c.3572G= (p.Cys1191=)
c.3176G= (p.Cys1059=)
c.2918G= (p.Cys973=)
c.4196G= (p.Cys1399=)
10g.75030085G>TCA209710482DUSP29,KAT6Bc.5261G>T (p.Cys1754Phe)
c.4712G>T (p.Cys1571Phe)
c.4385G>T (p.Cys1462Phe)
n.577-3491C>A
c.*3622-3491C>A (n.*3622-3491C>A)
c.5099G>T (p.Cys1700Phe)
c.4223G>T (p.Cys1408Phe)
c.3572G>T (p.Cys1191Phe)
c.3176G>T (p.Cys1059Phe)
c.2918G>T (p.Cys973Phe)
c.4196G>T (p.Cys1399Phe)
 dbSNP
10g.75030086T>ACA377300605DUSP29,KAT6Bc.5262T>A (p.Cys1754Ter)
c.4713T>A (p.Cys1571Ter)
c.4386T>A (p.Cys1462Ter)
n.577-3492A>T
c.*3622-3492A>T (n.*3622-3492A>T)
c.5100T>A (p.Cys1700Ter)
c.4224T>A (p.Cys1408Ter)
c.3573T>A (p.Cys1191Ter)
c.3177T>A (p.Cys1059Ter)
c.2919T>A (p.Cys973Ter)
c.4197T>A (p.Cys1399Ter)
10g.75030086T>CCA5565162DUSP29,KAT6Bc.5262T>C (p.Cys1754=)
c.4713T>C (p.Cys1571=)
c.4386T>C (p.Cys1462=)
n.577-3492A>G
c.*3622-3492A>G (n.*3622-3492A>G)
c.5100T>C (p.Cys1700=)
c.4224T>C (p.Cys1408=)
c.3573T>C (p.Cys1191=)
c.3177T>C (p.Cys1059=)
c.2919T>C (p.Cys973=)
c.4197T>C (p.Cys1399=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.75030086T>GCA377300608DUSP29,KAT6Bc.5262T>G (p.Cys1754Trp)
c.4713T>G (p.Cys1571Trp)
c.4386T>G (p.Cys1462Trp)
n.577-3492A>C
c.*3622-3492A>C (n.*3622-3492A>C)
c.5100T>G (p.Cys1700Trp)
c.4224T>G (p.Cys1408Trp)
c.3573T>G (p.Cys1191Trp)
c.3177T>G (p.Cys1059Trp)
c.2919T>G (p.Cys973Trp)
c.4197T>G (p.Cys1399Trp)
10g.75030086T=CA1920306938DUSP29,KAT6Bc.5262T= (p.Cys1754=)
c.4713T= (p.Cys1571=)
c.4386T= (p.Cys1462=)
n.577-3492A=
c.*3622-3492A= (n.*3622-3492A=)
c.5100T= (p.Cys1700=)
c.4224T= (p.Cys1408=)
c.3573T= (p.Cys1191=)
c.3177T= (p.Cys1059=)
c.2919T= (p.Cys973=)
c.4197T= (p.Cys1399=)
10g.75030087G>ACA377300610DUSP29,KAT6Bc.5263G>A (p.Val1755Met)
c.4714G>A (p.Val1572Met)
c.4387G>A (p.Val1463Met)
n.577-3493C>T
c.*3622-3493C>T (n.*3622-3493C>T)
c.5101G>A (p.Val1701Met)
c.4225G>A (p.Val1409Met)
c.3574G>A (p.Val1192Met)
c.3178G>A (p.Val1060Met)
c.2920G>A (p.Val974Met)
c.4198G>A (p.Val1400Met)
 ClinVar gnomAD v4
10g.75030087G>CCA377300612DUSP29,KAT6Bc.5263G>C (p.Val1755Leu)
c.4714G>C (p.Val1572Leu)
c.4387G>C (p.Val1463Leu)
n.577-3493C>G
c.*3622-3493C>G (n.*3622-3493C>G)
c.5101G>C (p.Val1701Leu)
c.4225G>C (p.Val1409Leu)
c.3574G>C (p.Val1192Leu)
c.3178G>C (p.Val1060Leu)
c.2920G>C (p.Val974Leu)
c.4198G>C (p.Val1400Leu)
10g.75030087G>TCA377300614DUSP29,KAT6Bc.5263G>T (p.Val1755Leu)
c.4714G>T (p.Val1572Leu)
c.4387G>T (p.Val1463Leu)
n.577-3493C>A
c.*3622-3493C>A (n.*3622-3493C>A)
c.5101G>T (p.Val1701Leu)
c.4225G>T (p.Val1409Leu)
c.3574G>T (p.Val1192Leu)
c.3178G>T (p.Val1060Leu)
c.2920G>T (p.Val974Leu)
c.4198G>T (p.Val1400Leu)
10g.75030088T>ACA377300618DUSP29,KAT6Bc.5264T>A (p.Val1755Glu)
c.4715T>A (p.Val1572Glu)
c.4388T>A (p.Val1463Glu)
n.577-3494A>T
c.*3622-3494A>T (n.*3622-3494A>T)
c.5102T>A (p.Val1701Glu)
c.4226T>A (p.Val1409Glu)
c.3575T>A (p.Val1192Glu)
c.3179T>A (p.Val1060Glu)
c.2921T>A (p.Val974Glu)
c.4199T>A (p.Val1400Glu)
10g.75030088T>CCA377300620DUSP29,KAT6Bc.5264T>C (p.Val1755Ala)
c.4715T>C (p.Val1572Ala)
c.4388T>C (p.Val1463Ala)
n.577-3494A>G
c.*3622-3494A>G (n.*3622-3494A>G)
c.5102T>C (p.Val1701Ala)
c.4226T>C (p.Val1409Ala)
c.3575T>C (p.Val1192Ala)
c.3179T>C (p.Val1060Ala)
c.2921T>C (p.Val974Ala)
c.4199T>C (p.Val1400Ala)
10g.75030088T>GCA377300616DUSP29,KAT6Bc.5264T>G (p.Val1755Gly)
c.4715T>G (p.Val1572Gly)
c.4388T>G (p.Val1463Gly)
n.577-3494A>C
c.*3622-3494A>C (n.*3622-3494A>C)
c.5102T>G (p.Val1701Gly)
c.4226T>G (p.Val1409Gly)
c.3575T>G (p.Val1192Gly)
c.3179T>G (p.Val1060Gly)
c.2921T>G (p.Val974Gly)
c.4199T>G (p.Val1400Gly)
10g.75030089G>ACA470300782DUSP29,KAT6Bc.5265G>A (p.Val1755=)
c.4716G>A (p.Val1572=)
c.4389G>A (p.Val1463=)
n.577-3495C>T
c.*3622-3495C>T (n.*3622-3495C>T)
c.5103G>A (p.Val1701=)
c.4227G>A (p.Val1409=)
c.3576G>A (p.Val1192=)
c.3180G>A (p.Val1060=)
c.2922G>A (p.Val974=)
c.4200G>A (p.Val1400=)
 dbSNP gnomAD v3 gnomAD v4
10g.75030089G>CCA470300783DUSP29,KAT6Bc.5265G>C (p.Val1755=)
c.4716G>C (p.Val1572=)
c.4389G>C (p.Val1463=)
n.577-3495C>G
c.*3622-3495C>G (n.*3622-3495C>G)
c.5103G>C (p.Val1701=)
c.4227G>C (p.Val1409=)
c.3576G>C (p.Val1192=)
c.3180G>C (p.Val1060=)
c.2922G>C (p.Val974=)
c.4200G>C (p.Val1400=)
10g.75030089G=CA1920306939DUSP29,KAT6Bc.5265G= (p.Val1755=)
c.4716G= (p.Val1572=)
c.4389G= (p.Val1463=)
n.577-3495C=
c.*3622-3495C= (n.*3622-3495C=)
c.5103G= (p.Val1701=)
c.4227G= (p.Val1409=)
c.3576G= (p.Val1192=)
c.3180G= (p.Val1060=)
c.2922G= (p.Val974=)
c.4200G= (p.Val1400=)
10g.75030089G>TCA470300784DUSP29,KAT6Bc.5265G>T (p.Val1755=)
c.4716G>T (p.Val1572=)
c.4389G>T (p.Val1463=)
n.577-3495C>A
c.*3622-3495C>A (n.*3622-3495C>A)
c.5103G>T (p.Val1701=)
c.4227G>T (p.Val1409=)
c.3576G>T (p.Val1192=)
c.3180G>T (p.Val1060=)
c.2922G>T (p.Val974=)
c.4200G>T (p.Val1400=)
10g.75030090G>ACA377300622DUSP29,KAT6Bc.5266G>A (p.Val1756Met)
c.4717G>A (p.Val1573Met)
c.4390G>A (p.Val1464Met)
n.577-3496C>T
c.*3622-3496C>T (n.*3622-3496C>T)
c.5104G>A (p.Val1702Met)
c.4228G>A (p.Val1410Met)
c.3577G>A (p.Val1193Met)
c.3181G>A (p.Val1061Met)
c.2923G>A (p.Val975Met)
c.4201G>A (p.Val1401Met)
10g.75030090G>CCA377300624DUSP29,KAT6Bc.5266G>C (p.Val1756Leu)
c.4717G>C (p.Val1573Leu)
c.4390G>C (p.Val1464Leu)
n.577-3496C>G
c.*3622-3496C>G (n.*3622-3496C>G)
c.5104G>C (p.Val1702Leu)
c.4228G>C (p.Val1410Leu)
c.3577G>C (p.Val1193Leu)
c.3181G>C (p.Val1061Leu)
c.2923G>C (p.Val975Leu)
c.4201G>C (p.Val1401Leu)
10g.75030090G>TCA377300626DUSP29,KAT6Bc.5266G>T (p.Val1756Leu)
c.4717G>T (p.Val1573Leu)
c.4390G>T (p.Val1464Leu)
n.577-3496C>A
c.*3622-3496C>A (n.*3622-3496C>A)
c.5104G>T (p.Val1702Leu)
c.4228G>T (p.Val1410Leu)
c.3577G>T (p.Val1193Leu)
c.3181G>T (p.Val1061Leu)
c.2923G>T (p.Val975Leu)
c.4201G>T (p.Val1401Leu)
10g.75030091T>ACA377300628DUSP29,KAT6Bc.5267T>A (p.Val1756Glu)
c.4718T>A (p.Val1573Glu)
c.4391T>A (p.Val1464Glu)
n.577-3497A>T
c.*3622-3497A>T (n.*3622-3497A>T)
c.5105T>A (p.Val1702Glu)
c.4229T>A (p.Val1410Glu)
c.3578T>A (p.Val1193Glu)
c.3182T>A (p.Val1061Glu)
c.2924T>A (p.Val975Glu)
c.4202T>A (p.Val1401Glu)
10g.75030091T>CCA377300630DUSP29,KAT6Bc.5267T>C (p.Val1756Ala)
c.4718T>C (p.Val1573Ala)
c.4391T>C (p.Val1464Ala)
n.577-3497A>G
c.*3622-3497A>G (n.*3622-3497A>G)
c.5105T>C (p.Val1702Ala)
c.4229T>C (p.Val1410Ala)
c.3578T>C (p.Val1193Ala)
c.3182T>C (p.Val1061Ala)
c.2924T>C (p.Val975Ala)
c.4202T>C (p.Val1401Ala)
10g.75030091T>GCA377300632DUSP29,KAT6Bc.5267T>G (p.Val1756Gly)
c.4718T>G (p.Val1573Gly)
c.4391T>G (p.Val1464Gly)
n.577-3497A>C
c.*3622-3497A>C (n.*3622-3497A>C)
c.5105T>G (p.Val1702Gly)
c.4229T>G (p.Val1410Gly)
c.3578T>G (p.Val1193Gly)
c.3182T>G (p.Val1061Gly)
c.2924T>G (p.Val975Gly)
c.4202T>G (p.Val1401Gly)
10g.75030092G>ACA470300785DUSP29,KAT6Bc.5268G>A (p.Val1756=)
c.4719G>A (p.Val1573=)
c.4392G>A (p.Val1464=)
n.577-3498C>T
c.*3622-3498C>T (n.*3622-3498C>T)
c.5106G>A (p.Val1702=)
c.4230G>A (p.Val1410=)
c.3579G>A (p.Val1193=)
c.3183G>A (p.Val1061=)
c.2925G>A (p.Val975=)
c.4203G>A (p.Val1401=)
10g.75030092G>CCA470300787DUSP29,KAT6Bc.5268G>C (p.Val1756=)
c.4719G>C (p.Val1573=)
c.4392G>C (p.Val1464=)
n.577-3498C>G
c.*3622-3498C>G (n.*3622-3498C>G)
c.5106G>C (p.Val1702=)
c.4230G>C (p.Val1410=)
c.3579G>C (p.Val1193=)
c.3183G>C (p.Val1061=)
c.2925G>C (p.Val975=)
c.4203G>C (p.Val1401=)
10g.75030092G>TCA470300786DUSP29,KAT6Bc.5268G>T (p.Val1756=)
c.4719G>T (p.Val1573=)
c.4392G>T (p.Val1464=)
n.577-3498C>A
c.*3622-3498C>A (n.*3622-3498C>A)
c.5106G>T (p.Val1702=)
c.4230G>T (p.Val1410=)
c.3579G>T (p.Val1193=)
c.3183G>T (p.Val1061=)
c.2925G>T (p.Val975=)
c.4203G>T (p.Val1401=)
10g.75030093G>ACA377300634DUSP29,KAT6Bc.5269G>A (p.Glu1757Lys)
c.4720G>A (p.Glu1574Lys)
c.4393G>A (p.Glu1465Lys)
n.577-3499C>T
c.*3622-3499C>T (n.*3622-3499C>T)
c.5107G>A (p.Glu1703Lys)
c.4231G>A (p.Glu1411Lys)
c.3580G>A (p.Glu1194Lys)
c.3184G>A (p.Glu1062Lys)
c.2926G>A (p.Glu976Lys)
c.4204G>A (p.Glu1402Lys)
10g.75030093G>CCA377300637DUSP29,KAT6Bc.5269G>C (p.Glu1757Gln)
c.4720G>C (p.Glu1574Gln)
c.4393G>C (p.Glu1465Gln)
n.577-3499C>G
c.*3622-3499C>G (n.*3622-3499C>G)
c.5107G>C (p.Glu1703Gln)
c.4231G>C (p.Glu1411Gln)
c.3580G>C (p.Glu1194Gln)
c.3184G>C (p.Glu1062Gln)
c.2926G>C (p.Glu976Gln)
c.4204G>C (p.Glu1402Gln)
10g.75030093G>TCA377300639DUSP29,KAT6Bc.5269G>T (p.Glu1757Ter)
c.4720G>T (p.Glu1574Ter)
c.4393G>T (p.Glu1465Ter)
n.577-3499C>A
c.*3622-3499C>A (n.*3622-3499C>A)
c.5107G>T (p.Glu1703Ter)
c.4231G>T (p.Glu1411Ter)
c.3580G>T (p.Glu1194Ter)
c.3184G>T (p.Glu1062Ter)
c.2926G>T (p.Glu976Ter)
c.4204G>T (p.Glu1402Ter)
10g.75030094A=CA1920306940DUSP29,KAT6Bc.5270A= (p.Glu1757=)
c.4721A= (p.Glu1574=)
c.4394A= (p.Glu1465=)
n.577-3500T=
c.*3622-3500T= (n.*3622-3500T=)
c.5108A= (p.Glu1703=)
c.4232A= (p.Glu1411=)
c.3581A= (p.Glu1194=)
c.3185A= (p.Glu1062=)
c.2927A= (p.Glu976=)
c.4205A= (p.Glu1402=)
10g.75030094A>CCA377300641DUSP29,KAT6Bc.5270A>C (p.Glu1757Ala)
c.4721A>C (p.Glu1574Ala)
c.4394A>C (p.Glu1465Ala)
n.577-3500T>G
c.*3622-3500T>G (n.*3622-3500T>G)
c.5108A>C (p.Glu1703Ala)
c.4232A>C (p.Glu1411Ala)
c.3581A>C (p.Glu1194Ala)
c.3185A>C (p.Glu1062Ala)
c.2927A>C (p.Glu976Ala)
c.4205A>C (p.Glu1402Ala)
10g.75030094A>GCA5565163DUSP29,KAT6Bc.5270A>G (p.Glu1757Gly)
c.4721A>G (p.Glu1574Gly)
c.4394A>G (p.Glu1465Gly)
n.577-3500T>C
c.*3622-3500T>C (n.*3622-3500T>C)
c.5108A>G (p.Glu1703Gly)
c.4232A>G (p.Glu1411Gly)
c.3581A>G (p.Glu1194Gly)
c.3185A>G (p.Glu1062Gly)
c.2927A>G (p.Glu976Gly)
c.4205A>G (p.Glu1402Gly)
 dbSNP ExAC gnomAD v2
10g.75030094A>TCA377300643DUSP29,KAT6Bc.5270A>T (p.Glu1757Val)
c.4721A>T (p.Glu1574Val)
c.4394A>T (p.Glu1465Val)
n.577-3500T>A
c.*3622-3500T>A (n.*3622-3500T>A)
c.5108A>T (p.Glu1703Val)
c.4232A>T (p.Glu1411Val)
c.3581A>T (p.Glu1194Val)
c.3185A>T (p.Glu1062Val)
c.2927A>T (p.Glu976Val)
c.4205A>T (p.Glu1402Val)
10g.75030095G>ACA470300788DUSP29,KAT6Bc.5271G>A (p.Glu1757=)
c.4722G>A (p.Glu1574=)
c.4395G>A (p.Glu1465=)
n.577-3501C>T
c.*3622-3501C>T (n.*3622-3501C>T)
c.5109G>A (p.Glu1703=)
c.4233G>A (p.Glu1411=)
c.3582G>A (p.Glu1194=)
c.3186G>A (p.Glu1062=)
c.2928G>A (p.Glu976=)
c.4206G>A (p.Glu1402=)
 dbSNP gnomAD v3 gnomAD v4
10g.75030095G>CCA377300647DUSP29,KAT6Bc.5271G>C (p.Glu1757Asp)
c.4722G>C (p.Glu1574Asp)
c.4395G>C (p.Glu1465Asp)
n.577-3501C>G
c.*3622-3501C>G (n.*3622-3501C>G)
c.5109G>C (p.Glu1703Asp)
c.4233G>C (p.Glu1411Asp)
c.3582G>C (p.Glu1194Asp)
c.3186G>C (p.Glu1062Asp)
c.2928G>C (p.Glu976Asp)
c.4206G>C (p.Glu1402Asp)
10g.75030095G=CA1920306941DUSP29,KAT6Bc.5271G= (p.Glu1757=)
c.4722G= (p.Glu1574=)
c.4395G= (p.Glu1465=)
n.577-3501C=
c.*3622-3501C= (n.*3622-3501C=)
c.5109G= (p.Glu1703=)
c.4233G= (p.Glu1411=)
c.3582G= (p.Glu1194=)
c.3186G= (p.Glu1062=)
c.2928G= (p.Glu976=)
c.4206G= (p.Glu1402=)
10g.75030095G>TCA377300646DUSP29,KAT6Bc.5271G>T (p.Glu1757Asp)
c.4722G>T (p.Glu1574Asp)
c.4395G>T (p.Glu1465Asp)
n.577-3501C>A
c.*3622-3501C>A (n.*3622-3501C>A)
c.5109G>T (p.Glu1703Asp)
c.4233G>T (p.Glu1411Asp)
c.3582G>T (p.Glu1194Asp)
c.3186G>T (p.Glu1062Asp)
c.2928G>T (p.Glu976Asp)
c.4206G>T (p.Glu1402Asp)
10g.75030096A=CA1920306942DUSP29,KAT6Bc.5272A= (p.Arg1758=)
c.4723A= (p.Arg1575=)
c.4396A= (p.Arg1466=)
n.577-3502T=
c.*3622-3502T= (n.*3622-3502T=)
c.5110A= (p.Arg1704=)
c.4234A= (p.Arg1412=)
c.3583A= (p.Arg1195=)
c.3187A= (p.Arg1063=)
c.2929A= (p.Arg977=)
c.4207A= (p.Arg1403=)
10g.75030096A>CCA470300789DUSP29,KAT6Bc.5272A>C (p.Arg1758=)
c.4723A>C (p.Arg1575=)
c.4396A>C (p.Arg1466=)
n.577-3502T>G
c.*3622-3502T>G (n.*3622-3502T>G)
c.5110A>C (p.Arg1704=)
c.4234A>C (p.Arg1412=)
c.3583A>C (p.Arg1195=)
c.3187A>C (p.Arg1063=)
c.2929A>C (p.Arg977=)
c.4207A>C (p.Arg1403=)
10g.75030096A>GCA377300649DUSP29,KAT6Bc.5272A>G (p.Arg1758Gly)
c.4723A>G (p.Arg1575Gly)
c.4396A>G (p.Arg1466Gly)
n.577-3502T>C
c.*3622-3502T>C (n.*3622-3502T>C)
c.5110A>G (p.Arg1704Gly)
c.4234A>G (p.Arg1412Gly)
c.3583A>G (p.Arg1195Gly)
c.3187A>G (p.Arg1063Gly)
c.2929A>G (p.Arg977Gly)
c.4207A>G (p.Arg1403Gly)
 dbSNP gnomAD v4
10g.75030096A>TCA377300650DUSP29,KAT6Bc.5272A>T (p.Arg1758Trp)
c.4723A>T (p.Arg1575Trp)
c.4396A>T (p.Arg1466Trp)
n.577-3502T>A
c.*3622-3502T>A (n.*3622-3502T>A)
c.5110A>T (p.Arg1704Trp)
c.4234A>T (p.Arg1412Trp)
c.3583A>T (p.Arg1195Trp)
c.3187A>T (p.Arg1063Trp)
c.2929A>T (p.Arg977Trp)
c.4207A>T (p.Arg1403Trp)
10g.75030097G>ACA377300652DUSP29,KAT6Bc.5273G>A (p.Arg1758Lys)
c.4724G>A (p.Arg1575Lys)
c.4397G>A (p.Arg1466Lys)
n.577-3503C>T
c.*3622-3503C>T (n.*3622-3503C>T)
c.5111G>A (p.Arg1704Lys)
c.4235G>A (p.Arg1412Lys)
c.3584G>A (p.Arg1195Lys)
c.3188G>A (p.Arg1063Lys)
c.2930G>A (p.Arg977Lys)
c.4208G>A (p.Arg1403Lys)
10g.75030097G>CCA377300653DUSP29,KAT6Bc.5273G>C (p.Arg1758Thr)
c.4724G>C (p.Arg1575Thr)
c.4397G>C (p.Arg1466Thr)
n.577-3503C>G
c.*3622-3503C>G (n.*3622-3503C>G)
c.5111G>C (p.Arg1704Thr)
c.4235G>C (p.Arg1412Thr)
c.3584G>C (p.Arg1195Thr)
c.3188G>C (p.Arg1063Thr)
c.2930G>C (p.Arg977Thr)
c.4208G>C (p.Arg1403Thr)
10g.75030097G>TCA377300654DUSP29,KAT6Bc.5273G>T (p.Arg1758Met)
c.4724G>T (p.Arg1575Met)
c.4397G>T (p.Arg1466Met)
n.577-3503C>A
c.*3622-3503C>A (n.*3622-3503C>A)
c.5111G>T (p.Arg1704Met)
c.4235G>T (p.Arg1412Met)
c.3584G>T (p.Arg1195Met)
c.3188G>T (p.Arg1063Met)
c.2930G>T (p.Arg977Met)
c.4208G>T (p.Arg1403Met)
10g.75030098G>ACA470300790DUSP29,KAT6Bc.5274G>A (p.Arg1758=)
c.4725G>A (p.Arg1575=)
c.4398G>A (p.Arg1466=)
n.577-3504C>T
c.*3622-3504C>T (n.*3622-3504C>T)
c.5112G>A (p.Arg1704=)
c.4236G>A (p.Arg1412=)
c.3585G>A (p.Arg1195=)
c.3189G>A (p.Arg1063=)
c.2931G>A (p.Arg977=)
c.4209G>A (p.Arg1403=)
10g.75030098G>CCA377300656DUSP29,KAT6Bc.5274G>C (p.Arg1758Ser)
c.4725G>C (p.Arg1575Ser)
c.4398G>C (p.Arg1466Ser)
n.577-3504C>G
c.*3622-3504C>G (n.*3622-3504C>G)
c.5112G>C (p.Arg1704Ser)
c.4236G>C (p.Arg1412Ser)
c.3585G>C (p.Arg1195Ser)
c.3189G>C (p.Arg1063Ser)
c.2931G>C (p.Arg977Ser)
c.4209G>C (p.Arg1403Ser)
10g.75030098G=CA1920306943DUSP29,KAT6Bc.5274G= (p.Arg1758=)
c.4725G= (p.Arg1575=)
c.4398G= (p.Arg1466=)
n.577-3504C=
c.*3622-3504C= (n.*3622-3504C=)
c.5112G= (p.Arg1704=)
c.4236G= (p.Arg1412=)
c.3585G= (p.Arg1195=)
c.3189G= (p.Arg1063=)
c.2931G= (p.Arg977=)
c.4209G= (p.Arg1403=)
10g.75030098G>TCA5565164DUSP29,KAT6Bc.5274G>T (p.Arg1758Ser)
c.4725G>T (p.Arg1575Ser)
c.4398G>T (p.Arg1466Ser)
n.577-3504C>A
c.*3622-3504C>A (n.*3622-3504C>A)
c.5112G>T (p.Arg1704Ser)
c.4236G>T (p.Arg1412Ser)
c.3585G>T (p.Arg1195Ser)
c.3189G>T (p.Arg1063Ser)
c.2931G>T (p.Arg977Ser)
c.4209G>T (p.Arg1403Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.75030099C>ACA377300661DUSP29,KAT6Bc.5275C>A (p.Pro1759Thr)
c.4726C>A (p.Pro1576Thr)
c.4399C>A (p.Pro1467Thr)
n.577-3505G>T
c.*3622-3505G>T (n.*3622-3505G>T)
c.5113C>A (p.Pro1705Thr)
c.4237C>A (p.Pro1413Thr)
c.3586C>A (p.Pro1196Thr)
c.3190C>A (p.Pro1064Thr)
c.2932C>A (p.Pro978Thr)
c.4210C>A (p.Pro1404Thr)
 dbSNP gnomAD v3 gnomAD v4
10g.75030099C=CA1920306944DUSP29,KAT6Bc.5275C= (p.Pro1759=)
c.4726C= (p.Pro1576=)
c.4399C= (p.Pro1467=)
n.577-3505G=
c.*3622-3505G= (n.*3622-3505G=)
c.5113C= (p.Pro1705=)
c.4237C= (p.Pro1413=)
c.3586C= (p.Pro1196=)
c.3190C= (p.Pro1064=)
c.2932C= (p.Pro978=)
c.4210C= (p.Pro1404=)
10g.75030099C>GCA377300663DUSP29,KAT6Bc.5275C>G (p.Pro1759Ala)
c.4726C>G (p.Pro1576Ala)
c.4399C>G (p.Pro1467Ala)
n.577-3505G>C
c.*3622-3505G>C (n.*3622-3505G>C)
c.5113C>G (p.Pro1705Ala)
c.4237C>G (p.Pro1413Ala)
c.3586C>G (p.Pro1196Ala)
c.3190C>G (p.Pro1064Ala)
c.2932C>G (p.Pro978Ala)
c.4210C>G (p.Pro1404Ala)
10g.75030099C>TCA377300665DUSP29,KAT6Bc.5275C>T (p.Pro1759Ser)
c.4726C>T (p.Pro1576Ser)
c.4399C>T (p.Pro1467Ser)
n.577-3505G>A
c.*3622-3505G>A (n.*3622-3505G>A)
c.5113C>T (p.Pro1705Ser)
c.4237C>T (p.Pro1413Ser)
c.3586C>T (p.Pro1196Ser)
c.3190C>T (p.Pro1064Ser)
c.2932C>T (p.Pro978Ser)
c.4210C>T (p.Pro1404Ser)
 gnomAD v4
10g.75030100C>ACA377300667DUSP29,KAT6Bc.5276C>A (p.Pro1759His)
c.4727C>A (p.Pro1576His)
c.4400C>A (p.Pro1467His)
n.577-3506G>T
c.*3622-3506G>T (n.*3622-3506G>T)
c.5114C>A (p.Pro1705His)
c.4238C>A (p.Pro1413His)
c.3587C>A (p.Pro1196His)
c.3191C>A (p.Pro1064His)
c.2933C>A (p.Pro978His)
c.4211C>A (p.Pro1404His)
10g.75030100C=CA1920306945DUSP29,KAT6Bc.5276C= (p.Pro1759=)
c.4727C= (p.Pro1576=)
c.4400C= (p.Pro1467=)
n.577-3506G=
c.*3622-3506G= (n.*3622-3506G=)
c.5114C= (p.Pro1705=)
c.4238C= (p.Pro1413=)
c.3587C= (p.Pro1196=)
c.3191C= (p.Pro1064=)
c.2933C= (p.Pro978=)
c.4211C= (p.Pro1404=)
10g.75030100C>GCA377300669DUSP29,KAT6Bc.5276C>G (p.Pro1759Arg)
c.4727C>G (p.Pro1576Arg)
c.4400C>G (p.Pro1467Arg)
n.577-3506G>C
c.*3622-3506G>C (n.*3622-3506G>C)
c.5114C>G (p.Pro1705Arg)
c.4238C>G (p.Pro1413Arg)
c.3587C>G (p.Pro1196Arg)
c.3191C>G (p.Pro1064Arg)
c.2933C>G (p.Pro978Arg)
c.4211C>G (p.Pro1404Arg)
 dbSNP gnomAD v2 gnomAD v4
10g.75030100C>TCA209710492DUSP29,KAT6Bc.5276C>T (p.Pro1759Leu)
c.4727C>T (p.Pro1576Leu)
c.4400C>T (p.Pro1467Leu)
n.577-3506G>A
c.*3622-3506G>A (n.*3622-3506G>A)
c.5114C>T (p.Pro1705Leu)
c.4238C>T (p.Pro1413Leu)
c.3587C>T (p.Pro1196Leu)
c.3191C>T (p.Pro1064Leu)
c.2933C>T (p.Pro978Leu)
c.4211C>T (p.Pro1404Leu)
 dbSNP
10g.75030101T>ACA470300791DUSP29,KAT6Bc.5277T>A (p.Pro1759=)
c.4728T>A (p.Pro1576=)
c.4401T>A (p.Pro1467=)
n.577-3507A>T
c.*3622-3507A>T (n.*3622-3507A>T)
c.5115T>A (p.Pro1705=)
c.4239T>A (p.Pro1413=)
c.3588T>A (p.Pro1196=)
c.3192T>A (p.Pro1064=)
c.2934T>A (p.Pro978=)
c.4212T>A (p.Pro1404=)
10g.75030101T>CCA470300792DUSP29,KAT6Bc.5277T>C (p.Pro1759=)
c.4728T>C (p.Pro1576=)
c.4401T>C (p.Pro1467=)
n.577-3507A>G
c.*3622-3507A>G (n.*3622-3507A>G)
c.5115T>C (p.Pro1705=)
c.4239T>C (p.Pro1413=)
c.3588T>C (p.Pro1196=)
c.3192T>C (p.Pro1064=)
c.2934T>C (p.Pro978=)
c.4212T>C (p.Pro1404=)
10g.75030101T>GCA470300793DUSP29,KAT6Bc.5277T>G (p.Pro1759=)
c.4728T>G (p.Pro1576=)
c.4401T>G (p.Pro1467=)
n.577-3507A>C
c.*3622-3507A>C (n.*3622-3507A>C)
c.5115T>G (p.Pro1705=)
c.4239T>G (p.Pro1413=)
c.3588T>G (p.Pro1196=)
c.3192T>G (p.Pro1064=)
c.2934T>G (p.Pro978=)
c.4212T>G (p.Pro1404=)
10g.75030102C>ACA377300675DUSP29,KAT6Bc.5278C>A (p.Pro1760Thr)
c.4729C>A (p.Pro1577Thr)
c.4402C>A (p.Pro1468Thr)
n.577-3508G>T
c.*3622-3508G>T (n.*3622-3508G>T)
c.5116C>A (p.Pro1706Thr)
c.4240C>A (p.Pro1414Thr)
c.3589C>A (p.Pro1197Thr)
c.3193C>A (p.Pro1065Thr)
c.2935C>A (p.Pro979Thr)
c.4213C>A (p.Pro1405Thr)
10g.75030102C>GCA377300677DUSP29,KAT6Bc.5278C>G (p.Pro1760Ala)
c.4729C>G (p.Pro1577Ala)
c.4402C>G (p.Pro1468Ala)
n.577-3508G>C
c.*3622-3508G>C (n.*3622-3508G>C)
c.5116C>G (p.Pro1706Ala)
c.4240C>G (p.Pro1414Ala)
c.3589C>G (p.Pro1197Ala)
c.3193C>G (p.Pro1065Ala)
c.2935C>G (p.Pro979Ala)
c.4213C>G (p.Pro1405Ala)
10g.75030102C>TCA377300673DUSP29,KAT6Bc.5278C>T (p.Pro1760Ser)
c.4729C>T (p.Pro1577Ser)
c.4402C>T (p.Pro1468Ser)
n.577-3508G>A
c.*3622-3508G>A (n.*3622-3508G>A)
c.5116C>T (p.Pro1706Ser)
c.4240C>T (p.Pro1414Ser)
c.3589C>T (p.Pro1197Ser)
c.3193C>T (p.Pro1065Ser)
c.2935C>T (p.Pro979Ser)
c.4213C>T (p.Pro1405Ser)
10g.75030103C>ACA377300679DUSP29,KAT6Bc.5279C>A (p.Pro1760Gln)
c.4730C>A (p.Pro1577Gln)
c.4403C>A (p.Pro1468Gln)
n.577-3509G>T
c.*3622-3509G>T (n.*3622-3509G>T)
c.5117C>A (p.Pro1706Gln)
c.4241C>A (p.Pro1414Gln)
c.3590C>A (p.Pro1197Gln)
c.3194C>A (p.Pro1065Gln)
c.2936C>A (p.Pro979Gln)
c.4214C>A (p.Pro1405Gln)
 ClinVar dbSNP
10g.75030103C=CA1920306946DUSP29,KAT6Bc.5279C= (p.Pro1760=)
c.4730C= (p.Pro1577=)
c.4403C= (p.Pro1468=)
n.577-3509G=
c.*3622-3509G= (n.*3622-3509G=)
c.5117C= (p.Pro1706=)
c.4241C= (p.Pro1414=)
c.3590C= (p.Pro1197=)
c.3194C= (p.Pro1065=)
c.2936C= (p.Pro979=)
c.4214C= (p.Pro1405=)
10g.75030103C>GCA377300681DUSP29,KAT6Bc.5279C>G (p.Pro1760Arg)
c.4730C>G (p.Pro1577Arg)
c.4403C>G (p.Pro1468Arg)
n.577-3509G>C
c.*3622-3509G>C (n.*3622-3509G>C)
c.5117C>G (p.Pro1706Arg)
c.4241C>G (p.Pro1414Arg)
c.3590C>G (p.Pro1197Arg)
c.3194C>G (p.Pro1065Arg)
c.2936C>G (p.Pro979Arg)
c.4214C>G (p.Pro1405Arg)
10g.75030103C>TCA377300683DUSP29,KAT6Bc.5279C>T (p.Pro1760Leu)
c.4730C>T (p.Pro1577Leu)
c.4403C>T (p.Pro1468Leu)
n.577-3509G>A
c.*3622-3509G>A (n.*3622-3509G>A)
c.5117C>T (p.Pro1706Leu)
c.4241C>T (p.Pro1414Leu)
c.3590C>T (p.Pro1197Leu)
c.3194C>T (p.Pro1065Leu)
c.2936C>T (p.Pro979Leu)
c.4214C>T (p.Pro1405Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
10g.75030104G>ACA5565166DUSP29,KAT6Bc.5280G>A (p.Pro1760=)
c.4731G>A (p.Pro1577=)
c.4404G>A (p.Pro1468=)
n.577-3510C>T
c.*3622-3510C>T (n.*3622-3510C>T)
c.5118G>A (p.Pro1706=)
c.4242G>A (p.Pro1414=)
c.3591G>A (p.Pro1197=)
c.3195G>A (p.Pro1065=)
c.2937G>A (p.Pro979=)
c.4215G>A (p.Pro1405=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.75030104G>CCA470300794DUSP29,KAT6Bc.5280G>C (p.Pro1760=)
c.4731G>C (p.Pro1577=)
c.4404G>C (p.Pro1468=)
n.577-3510C>G
c.*3622-3510C>G (n.*3622-3510C>G)
c.5118G>C (p.Pro1706=)
c.4242G>C (p.Pro1414=)
c.3591G>C (p.Pro1197=)
c.3195G>C (p.Pro1065=)
c.2937G>C (p.Pro979=)
c.4215G>C (p.Pro1405=)
10g.75030104G=CA1920306947DUSP29,KAT6Bc.5280G= (p.Pro1760=)
c.4731G= (p.Pro1577=)
c.4404G= (p.Pro1468=)
n.577-3510C=
c.*3622-3510C= (n.*3622-3510C=)
c.5118G= (p.Pro1706=)
c.4242G= (p.Pro1414=)
c.3591G= (p.Pro1197=)
c.3195G= (p.Pro1065=)
c.2937G= (p.Pro979=)
c.4215G= (p.Pro1405=)
10g.75030104G>TCA5565165DUSP29,KAT6Bc.5280G>T (p.Pro1760=)
c.4731G>T (p.Pro1577=)
c.4404G>T (p.Pro1468=)
n.577-3510C>A
c.*3622-3510C>A (n.*3622-3510C>A)
c.5118G>T (p.Pro1706=)
c.4242G>T (p.Pro1414=)
c.3591G>T (p.Pro1197=)
c.3195G>T (p.Pro1065=)
c.2937G>T (p.Pro979=)
c.4215G>T (p.Pro1405=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.75030105A>CCA377300692DUSP29,KAT6Bc.5281A>C (p.Ser1761Arg)
c.4732A>C (p.Ser1578Arg)
c.4405A>C (p.Ser1469Arg)
n.577-3511T>G
c.*3622-3511T>G (n.*3622-3511T>G)
c.5119A>C (p.Ser1707Arg)
c.4243A>C (p.Ser1415Arg)
c.3592A>C (p.Ser1198Arg)
c.3196A>C (p.Ser1066Arg)
c.2938A>C (p.Ser980Arg)
c.4216A>C (p.Ser1406Arg)
10g.75030105A>GCA377300688DUSP29,KAT6Bc.5281A>G (p.Ser1761Gly)
c.4732A>G (p.Ser1578Gly)
c.4405A>G (p.Ser1469Gly)
n.577-3511T>C
c.*3622-3511T>C (n.*3622-3511T>C)
c.5119A>G (p.Ser1707Gly)
c.4243A>G (p.Ser1415Gly)
c.3592A>G (p.Ser1198Gly)
c.3196A>G (p.Ser1066Gly)
c.2938A>G (p.Ser980Gly)
c.4216A>G (p.Ser1406Gly)
 gnomAD v4
10g.75030105A>TCA377300690DUSP29,KAT6Bc.5281A>T (p.Ser1761Cys)
c.4732A>T (p.Ser1578Cys)
c.4405A>T (p.Ser1469Cys)
n.577-3511T>A
c.*3622-3511T>A (n.*3622-3511T>A)
c.5119A>T (p.Ser1707Cys)
c.4243A>T (p.Ser1415Cys)
c.3592A>T (p.Ser1198Cys)
c.3196A>T (p.Ser1066Cys)
c.2938A>T (p.Ser980Cys)
c.4216A>T (p.Ser1406Cys)
 gnomAD v4
10g.75030106G>ACA377300694DUSP29,KAT6Bc.5282G>A (p.Ser1761Asn)
c.4733G>A (p.Ser1578Asn)
c.4406G>A (p.Ser1469Asn)
n.577-3512C>T
c.*3622-3512C>T (n.*3622-3512C>T)
c.5120G>A (p.Ser1707Asn)
c.4244G>A (p.Ser1415Asn)
c.3593G>A (p.Ser1198Asn)
c.3197G>A (p.Ser1066Asn)
c.2939G>A (p.Ser980Asn)
c.4217G>A (p.Ser1406Asn)
 COSMIC
10g.75030106G>CCA377300696DUSP29,KAT6Bc.5282G>C (p.Ser1761Thr)
c.4733G>C (p.Ser1578Thr)
c.4406G>C (p.Ser1469Thr)
n.577-3512C>G
c.*3622-3512C>G (n.*3622-3512C>G)
c.5120G>C (p.Ser1707Thr)
c.4244G>C (p.Ser1415Thr)
c.3593G>C (p.Ser1198Thr)
c.3197G>C (p.Ser1066Thr)
c.2939G>C (p.Ser980Thr)
c.4217G>C (p.Ser1406Thr)
10g.75030106G>TCA377300698DUSP29,KAT6Bc.5282G>T (p.Ser1761Ile)
c.4733G>T (p.Ser1578Ile)
c.4406G>T (p.Ser1469Ile)
n.577-3512C>A
c.*3622-3512C>A (n.*3622-3512C>A)
c.5120G>T (p.Ser1707Ile)
c.4244G>T (p.Ser1415Ile)
c.3593G>T (p.Ser1198Ile)
c.3197G>T (p.Ser1066Ile)
c.2939G>T (p.Ser980Ile)
c.4217G>T (p.Ser1406Ile)
10g.75030107C>ACA377300700DUSP29,KAT6Bc.5283C>A (p.Ser1761Arg)
c.4734C>A (p.Ser1578Arg)
c.4407C>A (p.Ser1469Arg)
n.577-3513G>T
c.*3622-3513G>T (n.*3622-3513G>T)
c.5121C>A (p.Ser1707Arg)
c.4245C>A (p.Ser1415Arg)
c.3594C>A (p.Ser1198Arg)
c.3198C>A (p.Ser1066Arg)
c.2940C>A (p.Ser980Arg)
c.4218C>A (p.Ser1406Arg)
10g.75030107C>GCA377300702DUSP29,KAT6Bc.5283C>G (p.Ser1761Arg)
c.4734C>G (p.Ser1578Arg)
c.4407C>G (p.Ser1469Arg)
n.577-3513G>C
c.*3622-3513G>C (n.*3622-3513G>C)
c.5121C>G (p.Ser1707Arg)
c.4245C>G (p.Ser1415Arg)
c.3594C>G (p.Ser1198Arg)
c.3198C>G (p.Ser1066Arg)
c.2940C>G (p.Ser980Arg)
c.4218C>G (p.Ser1406Arg)
10g.75030107C>TCA470300795DUSP29,KAT6Bc.5283C>T (p.Ser1761=)
c.4734C>T (p.Ser1578=)
c.4407C>T (p.Ser1469=)
n.577-3513G>A
c.*3622-3513G>A (n.*3622-3513G>A)
c.5121C>T (p.Ser1707=)
c.4245C>T (p.Ser1415=)
c.3594C>T (p.Ser1198=)
c.3198C>T (p.Ser1066=)
c.2940C>T (p.Ser980=)
c.4218C>T (p.Ser1406=)
10g.75030108A=CA1920306948DUSP29,KAT6Bc.5284A= (p.Ser1762=)
c.4735A= (p.Ser1579=)
c.4408A= (p.Ser1470=)
n.577-3514T=
c.*3622-3514T= (n.*3622-3514T=)
c.5122A= (p.Ser1708=)
c.4246A= (p.Ser1416=)
c.3595A= (p.Ser1199=)
c.3199A= (p.Ser1067=)
c.2941A= (p.Ser981=)
c.4219A= (p.Ser1407=)
10g.75030108A>CCA377300708DUSP29,KAT6Bc.5284A>C (p.Ser1762Arg)
c.4735A>C (p.Ser1579Arg)
c.4408A>C (p.Ser1470Arg)
n.577-3514T>G
c.*3622-3514T>G (n.*3622-3514T>G)
c.5122A>C (p.Ser1708Arg)
c.4246A>C (p.Ser1416Arg)
c.3595A>C (p.Ser1199Arg)
c.3199A>C (p.Ser1067Arg)
c.2941A>C (p.Ser981Arg)
c.4219A>C (p.Ser1407Arg)
10g.75030108A>GCA377300704DUSP29,KAT6Bc.5284A>G (p.Ser1762Gly)
c.4735A>G (p.Ser1579Gly)
c.4408A>G (p.Ser1470Gly)
n.577-3514T>C
c.*3622-3514T>C (n.*3622-3514T>C)
c.5122A>G (p.Ser1708Gly)
c.4246A>G (p.Ser1416Gly)
c.3595A>G (p.Ser1199Gly)
c.3199A>G (p.Ser1067Gly)
c.2941A>G (p.Ser981Gly)
c.4219A>G (p.Ser1407Gly)
 dbSNP gnomAD v2 gnomAD v4
10g.75030108A>TCA377300706DUSP29,KAT6Bc.5284A>T (p.Ser1762Cys)
c.4735A>T (p.Ser1579Cys)
c.4408A>T (p.Ser1470Cys)
n.577-3514T>A
c.*3622-3514T>A (n.*3622-3514T>A)
c.5122A>T (p.Ser1708Cys)
c.4246A>T (p.Ser1416Cys)
c.3595A>T (p.Ser1199Cys)
c.3199A>T (p.Ser1067Cys)
c.2941A>T (p.Ser981Cys)
c.4219A>T (p.Ser1407Cys)
10g.75030109G>ACA377300710DUSP29,KAT6Bc.5285G>A (p.Ser1762Asn)
c.4736G>A (p.Ser1579Asn)
c.4409G>A (p.Ser1470Asn)
n.577-3515C>T
c.*3622-3515C>T (n.*3622-3515C>T)
c.5123G>A (p.Ser1708Asn)
c.4247G>A (p.Ser1416Asn)
c.3596G>A (p.Ser1199Asn)
c.3200G>A (p.Ser1067Asn)
c.2942G>A (p.Ser981Asn)
c.4220G>A (p.Ser1407Asn)
10g.75030109G>CCA377300712DUSP29,KAT6Bc.5285G>C (p.Ser1762Thr)
c.4736G>C (p.Ser1579Thr)
c.4409G>C (p.Ser1470Thr)
n.577-3515C>G
c.*3622-3515C>G (n.*3622-3515C>G)
c.5123G>C (p.Ser1708Thr)
c.4247G>C (p.Ser1416Thr)
c.3596G>C (p.Ser1199Thr)
c.3200G>C (p.Ser1067Thr)
c.2942G>C (p.Ser981Thr)
c.4220G>C (p.Ser1407Thr)
10g.75030109G>TCA377300714DUSP29,KAT6Bc.5285G>T (p.Ser1762Ile)
c.4736G>T (p.Ser1579Ile)
c.4409G>T (p.Ser1470Ile)
n.577-3515C>A
c.*3622-3515C>A (n.*3622-3515C>A)
c.5123G>T (p.Ser1708Ile)
c.4247G>T (p.Ser1416Ile)
c.3596G>T (p.Ser1199Ile)
c.3200G>T (p.Ser1067Ile)
c.2942G>T (p.Ser981Ile)
c.4220G>T (p.Ser1407Ile)
10g.75030110C>ACA377300715DUSP29,KAT6Bc.5286C>A (p.Ser1762Arg)
c.4737C>A (p.Ser1579Arg)
c.4410C>A (p.Ser1470Arg)
n.577-3516G>T
c.*3622-3516G>T (n.*3622-3516G>T)
c.5124C>A (p.Ser1708Arg)
c.4248C>A (p.Ser1416Arg)
c.3597C>A (p.Ser1199Arg)
c.3201C>A (p.Ser1067Arg)
c.2943C>A (p.Ser981Arg)
c.4221C>A (p.Ser1407Arg)
10g.75030110C>GCA377300717DUSP29,KAT6Bc.5286C>G (p.Ser1762Arg)
c.4737C>G (p.Ser1579Arg)
c.4410C>G (p.Ser1470Arg)
n.577-3516G>C
c.*3622-3516G>C (n.*3622-3516G>C)
c.5124C>G (p.Ser1708Arg)
c.4248C>G (p.Ser1416Arg)
c.3597C>G (p.Ser1199Arg)
c.3201C>G (p.Ser1067Arg)
c.2943C>G (p.Ser981Arg)
c.4221C>G (p.Ser1407Arg)
10g.75030110C>TCA470300796DUSP29,KAT6Bc.5286C>T (p.Ser1762=)
c.4737C>T (p.Ser1579=)
c.4410C>T (p.Ser1470=)
n.577-3516G>A
c.*3622-3516G>A (n.*3622-3516G>A)
c.5124C>T (p.Ser1708=)
c.4248C>T (p.Ser1416=)
c.3597C>T (p.Ser1199=)
c.3201C>T (p.Ser1067=)
c.2943C>T (p.Ser981=)
c.4221C>T (p.Ser1407=)
10g.75030111A>CCA377300719DUSP29,KAT6Bc.5287A>C (p.Ser1763Arg)
c.4738A>C (p.Ser1580Arg)
c.4411A>C (p.Ser1471Arg)
n.577-3517T>G
c.*3622-3517T>G (n.*3622-3517T>G)
c.5125A>C (p.Ser1709Arg)
c.4249A>C (p.Ser1417Arg)
c.3598A>C (p.Ser1200Arg)
c.3202A>C (p.Ser1068Arg)
c.2944A>C (p.Ser982Arg)
c.4222A>C (p.Ser1408Arg)
10g.75030111A>GCA377300721DUSP29,KAT6Bc.5287A>G (p.Ser1763Gly)
c.4738A>G (p.Ser1580Gly)
c.4411A>G (p.Ser1471Gly)
n.577-3517T>C
c.*3622-3517T>C (n.*3622-3517T>C)
c.5125A>G (p.Ser1709Gly)
c.4249A>G (p.Ser1417Gly)
c.3598A>G (p.Ser1200Gly)
c.3202A>G (p.Ser1068Gly)
c.2944A>G (p.Ser982Gly)
c.4222A>G (p.Ser1408Gly)
10g.75030111A>TCA377300723DUSP29,KAT6Bc.5287A>T (p.Ser1763Cys)
c.4738A>T (p.Ser1580Cys)
c.4411A>T (p.Ser1471Cys)
n.577-3517T>A
c.*3622-3517T>A (n.*3622-3517T>A)
c.5125A>T (p.Ser1709Cys)
c.4249A>T (p.Ser1417Cys)
c.3598A>T (p.Ser1200Cys)
c.3202A>T (p.Ser1068Cys)
c.2944A>T (p.Ser982Cys)
c.4222A>T (p.Ser1408Cys)
10g.75030112G>ACA377300725DUSP29,KAT6Bc.5288G>A (p.Ser1763Asn)
c.4739G>A (p.Ser1580Asn)
c.4412G>A (p.Ser1471Asn)
n.577-3518C>T
c.*3622-3518C>T (n.*3622-3518C>T)
c.5126G>A (p.Ser1709Asn)
c.4250G>A (p.Ser1417Asn)
c.3599G>A (p.Ser1200Asn)
c.3203G>A (p.Ser1068Asn)
c.2945G>A (p.Ser982Asn)
c.4223G>A (p.Ser1408Asn)
10g.75030112G>CCA377300727DUSP29,KAT6Bc.5288G>C (p.Ser1763Thr)
c.4739G>C (p.Ser1580Thr)
c.4412G>C (p.Ser1471Thr)
n.577-3518C>G
c.*3622-3518C>G (n.*3622-3518C>G)
c.5126G>C (p.Ser1709Thr)
c.4250G>C (p.Ser1417Thr)
c.3599G>C (p.Ser1200Thr)
c.3203G>C (p.Ser1068Thr)
c.2945G>C (p.Ser982Thr)
c.4223G>C (p.Ser1408Thr)
10g.75030112G>TCA377300728DUSP29,KAT6Bc.5288G>T (p.Ser1763Ile)
c.4739G>T (p.Ser1580Ile)
c.4412G>T (p.Ser1471Ile)
n.577-3518C>A
c.*3622-3518C>A (n.*3622-3518C>A)
c.5126G>T (p.Ser1709Ile)
c.4250G>T (p.Ser1417Ile)
c.3599G>T (p.Ser1200Ile)
c.3203G>T (p.Ser1068Ile)
c.2945G>T (p.Ser982Ile)
c.4223G>T (p.Ser1408Ile)
10g.75030113C>ACA377300730DUSP29,KAT6Bc.5289C>A (p.Ser1763Arg)
c.4740C>A (p.Ser1580Arg)
c.4413C>A (p.Ser1471Arg)
n.577-3519G>T
c.*3622-3519G>T (n.*3622-3519G>T)
c.5127C>A (p.Ser1709Arg)
c.4251C>A (p.Ser1417Arg)
c.3600C>A (p.Ser1200Arg)
c.3204C>A (p.Ser1068Arg)
c.2946C>A (p.Ser982Arg)
c.4224C>A (p.Ser1408Arg)
10g.75030113C>GCA377300732DUSP29,KAT6Bc.5289C>G (p.Ser1763Arg)
c.4740C>G (p.Ser1580Arg)
c.4413C>G (p.Ser1471Arg)
n.577-3519G>C
c.*3622-3519G>C (n.*3622-3519G>C)
c.5127C>G (p.Ser1709Arg)
c.4251C>G (p.Ser1417Arg)
c.3600C>G (p.Ser1200Arg)
c.3204C>G (p.Ser1068Arg)
c.2946C>G (p.Ser982Arg)
c.4224C>G (p.Ser1408Arg)
10g.75030113C>TCA470300797DUSP29,KAT6Bc.5289C>T (p.Ser1763=)
c.4740C>T (p.Ser1580=)
c.4413C>T (p.Ser1471=)
n.577-3519G>A
c.*3622-3519G>A (n.*3622-3519G>A)
c.5127C>T (p.Ser1709=)
c.4251C>T (p.Ser1417=)
c.3600C>T (p.Ser1200=)
c.3204C>T (p.Ser1068=)
c.2946C>T (p.Ser982=)
c.4224C>T (p.Ser1408=)
10g.75030114C>ACA377300734DUSP29,KAT6Bc.5290C>A (p.Gln1764Lys)
c.4741C>A (p.Gln1581Lys)
c.4414C>A (p.Gln1472Lys)
n.577-3520G>T
c.*3622-3520G>T (n.*3622-3520G>T)
c.5128C>A (p.Gln1710Lys)
c.4252C>A (p.Gln1418Lys)
c.3601C>A (p.Gln1201Lys)
c.3205C>A (p.Gln1069Lys)
c.2947C>A (p.Gln983Lys)
c.4225C>A (p.Gln1409Lys)
10g.75030114C=CA1920306949DUSP29,KAT6Bc.5290C= (p.Gln1764=)
c.4741C= (p.Gln1581=)
c.4414C= (p.Gln1472=)
n.577-3520G=
c.*3622-3520G= (n.*3622-3520G=)
c.5128C= (p.Gln1710=)
c.4252C= (p.Gln1418=)
c.3601C= (p.Gln1201=)
c.3205C= (p.Gln1069=)
c.2947C= (p.Gln983=)
c.4225C= (p.Gln1409=)
10g.75030114C>GCA377300737DUSP29,KAT6Bc.5290C>G (p.Gln1764Glu)
c.4741C>G (p.Gln1581Glu)
c.4414C>G (p.Gln1472Glu)
n.577-3520G>C
c.*3622-3520G>C (n.*3622-3520G>C)
c.5128C>G (p.Gln1710Glu)
c.4252C>G (p.Gln1418Glu)
c.3601C>G (p.Gln1201Glu)
c.3205C>G (p.Gln1069Glu)
c.2947C>G (p.Gln983Glu)
c.4225C>G (p.Gln1409Glu)
10g.75030114C>TCA377300736DUSP29,KAT6Bc.5290C>T (p.Gln1764Ter)
c.4741C>T (p.Gln1581Ter)
c.4414C>T (p.Gln1472Ter)
n.577-3520G>A
c.*3622-3520G>A (n.*3622-3520G>A)
c.5128C>T (p.Gln1710Ter)
c.4252C>T (p.Gln1418Ter)
c.3601C>T (p.Gln1201Ter)
c.3205C>T (p.Gln1069Ter)
c.2947C>T (p.Gln983Ter)
c.4225C>T (p.Gln1409Ter)
 ClinVar dbSNP
10g.75030115A>CCA377300739DUSP29,KAT6Bc.5291A>C (p.Gln1764Pro)
c.4742A>C (p.Gln1581Pro)
c.4415A>C (p.Gln1472Pro)
n.577-3521T>G
c.*3622-3521T>G (n.*3622-3521T>G)
c.5129A>C (p.Gln1710Pro)
c.4253A>C (p.Gln1418Pro)
c.3602A>C (p.Gln1201Pro)
c.3206A>C (p.Gln1069Pro)
c.2948A>C (p.Gln983Pro)
c.4226A>C (p.Gln1409Pro)
10g.75030115A>GCA377300741DUSP29,KAT6Bc.5291A>G (p.Gln1764Arg)
c.4742A>G (p.Gln1581Arg)
c.4415A>G (p.Gln1472Arg)
n.577-3521T>C
c.*3622-3521T>C (n.*3622-3521T>C)
c.5129A>G (p.Gln1710Arg)
c.4253A>G (p.Gln1418Arg)
c.3602A>G (p.Gln1201Arg)
c.3206A>G (p.Gln1069Arg)
c.2948A>G (p.Gln983Arg)
c.4226A>G (p.Gln1409Arg)
 gnomAD v4
10g.75030115A>TCA377300743DUSP29,KAT6Bc.5291A>T (p.Gln1764Leu)
c.4742A>T (p.Gln1581Leu)
c.4415A>T (p.Gln1472Leu)
n.577-3521T>A
c.*3622-3521T>A (n.*3622-3521T>A)
c.5129A>T (p.Gln1710Leu)
c.4253A>T (p.Gln1418Leu)
c.3602A>T (p.Gln1201Leu)
c.3206A>T (p.Gln1069Leu)
c.2948A>T (p.Gln983Leu)
c.4226A>T (p.Gln1409Leu)
10g.75030116G>ACA470300798DUSP29,KAT6Bc.5292G>A (p.Gln1764=)
c.4743G>A (p.Gln1581=)
c.4416G>A (p.Gln1472=)
n.577-3522C>T
c.*3622-3522C>T (n.*3622-3522C>T)
c.5130G>A (p.Gln1710=)
c.4254G>A (p.Gln1418=)
c.3603G>A (p.Gln1201=)
c.3207G>A (p.Gln1069=)
c.2949G>A (p.Gln983=)
c.4227G>A (p.Gln1409=)
10g.75030116G>CCA377300745DUSP29,KAT6Bc.5292G>C (p.Gln1764His)
c.4743G>C (p.Gln1581His)
c.4416G>C (p.Gln1472His)
n.577-3522C>G
c.*3622-3522C>G (n.*3622-3522C>G)
c.5130G>C (p.Gln1710His)
c.4254G>C (p.Gln1418His)
c.3603G>C (p.Gln1201His)
c.3207G>C (p.Gln1069His)
c.2949G>C (p.Gln983His)
c.4227G>C (p.Gln1409His)
 dbSNP
10g.75030116G=CA1920306950DUSP29,KAT6Bc.5292G= (p.Gln1764=)
c.4743G= (p.Gln1581=)
c.4416G= (p.Gln1472=)
n.577-3522C=
c.*3622-3522C= (n.*3622-3522C=)
c.5130G= (p.Gln1710=)
c.4254G= (p.Gln1418=)
c.3603G= (p.Gln1201=)
c.3207G= (p.Gln1069=)
c.2949G= (p.Gln983=)
c.4227G= (p.Gln1409=)
10g.75030116G>TCA377300747DUSP29,KAT6Bc.5292G>T (p.Gln1764His)
c.4743G>T (p.Gln1581His)
c.4416G>T (p.Gln1472His)
n.577-3522C>A
c.*3622-3522C>A (n.*3622-3522C>A)
c.5130G>T (p.Gln1710His)
c.4254G>T (p.Gln1418His)
c.3603G>T (p.Gln1201His)
c.3207G>T (p.Gln1069His)
c.2949G>T (p.Gln983His)
c.4227G>T (p.Gln1409His)
10g.75030117C>ACA5565167DUSP29,KAT6Bc.5293C>A (p.Gln1765Lys)
c.4744C>A (p.Gln1582Lys)
c.4417C>A (p.Gln1473Lys)
n.577-3523G>T
c.*3622-3523G>T (n.*3622-3523G>T)
c.5131C>A (p.Gln1711Lys)
c.4255C>A (p.Gln1419Lys)
c.3604C>A (p.Gln1202Lys)
c.3208C>A (p.Gln1070Lys)
c.2950C>A (p.Gln984Lys)
c.4228C>A (p.Gln1410Lys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.75030117C=CA1920306951DUSP29,KAT6Bc.5293C= (p.Gln1765=)
c.4744C= (p.Gln1582=)
c.4417C= (p.Gln1473=)
n.577-3523G=
c.*3622-3523G= (n.*3622-3523G=)
c.5131C= (p.Gln1711=)
c.4255C= (p.Gln1419=)
c.3604C= (p.Gln1202=)
c.3208C= (p.Gln1070=)
c.2950C= (p.Gln984=)
c.4228C= (p.Gln1410=)
10g.75030117C>GCA377300750DUSP29,KAT6Bc.5293C>G (p.Gln1765Glu)
c.4744C>G (p.Gln1582Glu)
c.4417C>G (p.Gln1473Glu)
n.577-3523G>C
c.*3622-3523G>C (n.*3622-3523G>C)
c.5131C>G (p.Gln1711Glu)
c.4255C>G (p.Gln1419Glu)
c.3604C>G (p.Gln1202Glu)
c.3208C>G (p.Gln1070Glu)
c.2950C>G (p.Gln984Glu)
c.4228C>G (p.Gln1410Glu)
10g.75030117C>TCA377300752DUSP29,KAT6Bc.5293C>T (p.Gln1765Ter)
c.4744C>T (p.Gln1582Ter)
c.4417C>T (p.Gln1473Ter)
n.577-3523G>A
c.*3622-3523G>A (n.*3622-3523G>A)
c.5131C>T (p.Gln1711Ter)
c.4255C>T (p.Gln1419Ter)
c.3604C>T (p.Gln1202Ter)
c.3208C>T (p.Gln1070Ter)
c.2950C>T (p.Gln984Ter)
c.4228C>T (p.Gln1410Ter)
10g.75030118A=CA1920306952DUSP29,KAT6Bc.5294A= (p.Gln1765=)
c.4745A= (p.Gln1582=)
c.4418A= (p.Gln1473=)
n.577-3524T=
c.*3622-3524T= (n.*3622-3524T=)
c.5132A= (p.Gln1711=)
c.4256A= (p.Gln1419=)
c.3605A= (p.Gln1202=)
c.3209A= (p.Gln1070=)
c.2951A= (p.Gln984=)
c.4229A= (p.Gln1410=)
10g.75030118A>CCA377300754DUSP29,KAT6Bc.5294A>C (p.Gln1765Pro)
c.4745A>C (p.Gln1582Pro)
c.4418A>C (p.Gln1473Pro)
n.577-3524T>G
c.*3622-3524T>G (n.*3622-3524T>G)
c.5132A>C (p.Gln1711Pro)
c.4256A>C (p.Gln1419Pro)
c.3605A>C (p.Gln1202Pro)
c.3209A>C (p.Gln1070Pro)
c.2951A>C (p.Gln984Pro)
c.4229A>C (p.Gln1410Pro)
 dbSNP gnomAD v2 gnomAD v4
10g.75030118A>GCA377300756DUSP29,KAT6Bc.5294A>G (p.Gln1765Arg)
c.4745A>G (p.Gln1582Arg)
c.4418A>G (p.Gln1473Arg)
n.577-3524T>C
c.*3622-3524T>C (n.*3622-3524T>C)
c.5132A>G (p.Gln1711Arg)
c.4256A>G (p.Gln1419Arg)
c.3605A>G (p.Gln1202Arg)
c.3209A>G (p.Gln1070Arg)
c.2951A>G (p.Gln984Arg)
c.4229A>G (p.Gln1410Arg)
10g.75030118A>TCA377300758DUSP29,KAT6Bc.5294A>T (p.Gln1765Leu)
c.4745A>T (p.Gln1582Leu)
c.4418A>T (p.Gln1473Leu)
n.577-3524T>A
c.*3622-3524T>A (n.*3622-3524T>A)
c.5132A>T (p.Gln1711Leu)
c.4256A>T (p.Gln1419Leu)
c.3605A>T (p.Gln1202Leu)
c.3209A>T (p.Gln1070Leu)
c.2951A>T (p.Gln984Leu)
c.4229A>T (p.Gln1410Leu)
10g.75030119G>ACA470300799DUSP29,KAT6Bc.5295G>A (p.Gln1765=)
c.4746G>A (p.Gln1582=)
c.4419G>A (p.Gln1473=)
n.577-3525C>T
c.*3622-3525C>T (n.*3622-3525C>T)
c.5133G>A (p.Gln1711=)
c.4257G>A (p.Gln1419=)
c.3606G>A (p.Gln1202=)
c.3210G>A (p.Gln1070=)
c.2952G>A (p.Gln984=)
c.4230G>A (p.Gln1410=)
10g.75030119G>CCA377300760DUSP29,KAT6Bc.5295G>C (p.Gln1765His)
c.4746G>C (p.Gln1582His)
c.4419G>C (p.Gln1473His)
n.577-3525C>G
c.*3622-3525C>G (n.*3622-3525C>G)
c.5133G>C (p.Gln1711His)
c.4257G>C (p.Gln1419His)
c.3606G>C (p.Gln1202His)
c.3210G>C (p.Gln1070His)
c.2952G>C (p.Gln984His)
c.4230G>C (p.Gln1410His)
10g.75030119G=CA1920306953DUSP29,KAT6Bc.5295G= (p.Gln1765=)
c.4746G= (p.Gln1582=)
c.4419G= (p.Gln1473=)
n.577-3525C=
c.*3622-3525C= (n.*3622-3525C=)
c.5133G= (p.Gln1711=)
c.4257G= (p.Gln1419=)
c.3606G= (p.Gln1202=)
c.3210G= (p.Gln1070=)
c.2952G= (p.Gln984=)
c.4230G= (p.Gln1410=)
10g.75030119G>TCA377300762DUSP29,KAT6Bc.5295G>T (p.Gln1765His)
c.4746G>T (p.Gln1582His)
c.4419G>T (p.Gln1473His)
n.577-3525C>A
c.*3622-3525C>A (n.*3622-3525C>A)
c.5133G>T (p.Gln1711His)
c.4257G>T (p.Gln1419His)
c.3606G>T (p.Gln1202His)
c.3210G>T (p.Gln1070His)
c.2952G>T (p.Gln984His)
c.4230G>T (p.Gln1410His)
 dbSNP gnomAD v3 gnomAD v4
10g.75030120C>ACA377300766DUSP29,KAT6Bc.5296C>A (p.Leu1766Met)
c.4747C>A (p.Leu1583Met)
c.4420C>A (p.Leu1474Met)
n.577-3526G>T
c.*3622-3526G>T (n.*3622-3526G>T)
c.5134C>A (p.Leu1712Met)
c.4258C>A (p.Leu1420Met)
c.3607C>A (p.Leu1203Met)
c.3211C>A (p.Leu1071Met)
c.2953C>A (p.Leu985Met)
c.4231C>A (p.Leu1411Met)
10g.75030120C=CA1920306954DUSP29,KAT6Bc.5296C= (p.Leu1766=)
c.4747C= (p.Leu1583=)
c.4420C= (p.Leu1474=)
n.577-3526G=
c.*3622-3526G= (n.*3622-3526G=)
c.5134C= (p.Leu1712=)
c.4258C= (p.Leu1420=)
c.3607C= (p.Leu1203=)
c.3211C= (p.Leu1071=)
c.2953C= (p.Leu985=)
c.4231C= (p.Leu1411=)
10g.75030120C>GCA377300764DUSP29,KAT6Bc.5296C>G (p.Leu1766Val)
c.4747C>G (p.Leu1583Val)
c.4420C>G (p.Leu1474Val)
n.577-3526G>C
c.*3622-3526G>C (n.*3622-3526G>C)
c.5134C>G (p.Leu1712Val)
c.4258C>G (p.Leu1420Val)
c.3607C>G (p.Leu1203Val)
c.3211C>G (p.Leu1071Val)
c.2953C>G (p.Leu985Val)
c.4231C>G (p.Leu1411Val)
10g.75030120C>TCA470300800DUSP29,KAT6Bc.5296C>T (p.Leu1766=)
c.4747C>T (p.Leu1583=)
c.4420C>T (p.Leu1474=)
n.577-3526G>A
c.*3622-3526G>A (n.*3622-3526G>A)
c.5134C>T (p.Leu1712=)
c.4258C>T (p.Leu1420=)
c.3607C>T (p.Leu1203=)
c.3211C>T (p.Leu1071=)
c.2953C>T (p.Leu985=)
c.4231C>T (p.Leu1411=)
 dbSNP
10g.75030121T>ACA377300768DUSP29,KAT6Bc.5297T>A (p.Leu1766Gln)
c.4748T>A (p.Leu1583Gln)
c.4421T>A (p.Leu1474Gln)
n.577-3527A>T
c.*3622-3527A>T (n.*3622-3527A>T)
c.5135T>A (p.Leu1712Gln)
c.4259T>A (p.Leu1420Gln)
c.3608T>A (p.Leu1203Gln)
c.3212T>A (p.Leu1071Gln)
c.2954T>A (p.Leu985Gln)
c.4232T>A (p.Leu1411Gln)
10g.75030121T>CCA377300770DUSP29,KAT6Bc.5297T>C (p.Leu1766Pro)
c.4748T>C (p.Leu1583Pro)
c.4421T>C (p.Leu1474Pro)
n.577-3527A>G
c.*3622-3527A>G (n.*3622-3527A>G)
c.5135T>C (p.Leu1712Pro)
c.4259T>C (p.Leu1420Pro)
c.3608T>C (p.Leu1203Pro)
c.3212T>C (p.Leu1071Pro)
c.2954T>C (p.Leu985Pro)
c.4232T>C (p.Leu1411Pro)
10g.75030121T>GCA377300771DUSP29,KAT6Bc.5297T>G (p.Leu1766Arg)
c.4748T>G (p.Leu1583Arg)
c.4421T>G (p.Leu1474Arg)
n.577-3527A>C
c.*3622-3527A>C (n.*3622-3527A>C)
c.5135T>G (p.Leu1712Arg)
c.4259T>G (p.Leu1420Arg)
c.3608T>G (p.Leu1203Arg)
c.3212T>G (p.Leu1071Arg)
c.2954T>G (p.Leu985Arg)
c.4232T>G (p.Leu1411Arg)
10g.75030122G>ACA470300801DUSP29,KAT6Bc.5298G>A (p.Leu1766=)
c.4749G>A (p.Leu1583=)
c.4422G>A (p.Leu1474=)
n.577-3528C>T
c.*3622-3528C>T (n.*3622-3528C>T)
c.5136G>A (p.Leu1712=)
c.4260G>A (p.Leu1420=)
c.3609G>A (p.Leu1203=)
c.3213G>A (p.Leu1071=)
c.2955G>A (p.Leu985=)
c.4233G>A (p.Leu1411=)
 ClinVar dbSNP
10g.75030122G>CCA470300802DUSP29,KAT6Bc.5298G>C (p.Leu1766=)
c.4749G>C (p.Leu1583=)
c.4422G>C (p.Leu1474=)
n.577-3528C>G
c.*3622-3528C>G (n.*3622-3528C>G)
c.5136G>C (p.Leu1712=)
c.4260G>C (p.Leu1420=)
c.3609G>C (p.Leu1203=)
c.3213G>C (p.Leu1071=)
c.2955G>C (p.Leu985=)
c.4233G>C (p.Leu1411=)
10g.75030122G>TCA470300803DUSP29,KAT6Bc.5298G>T (p.Leu1766=)
c.4749G>T (p.Leu1583=)
c.4422G>T (p.Leu1474=)
n.577-3528C>A
c.*3622-3528C>A (n.*3622-3528C>A)
c.5136G>T (p.Leu1712=)
c.4260G>T (p.Leu1420=)
c.3609G>T (p.Leu1203=)
c.3213G>T (p.Leu1071=)
c.2955G>T (p.Leu985=)
c.4233G>T (p.Leu1411=)
10g.75030123G>ACA377300774DUSP29,KAT6Bc.5299G>A (p.Ala1767Thr)
c.4750G>A (p.Ala1584Thr)
c.4423G>A (p.Ala1475Thr)
n.577-3529C>T
c.*3622-3529C>T (n.*3622-3529C>T)
c.5137G>A (p.Ala1713Thr)
c.4261G>A (p.Ala1421Thr)
c.3610G>A (p.Ala1204Thr)
c.3214G>A (p.Ala1072Thr)
c.2956G>A (p.Ala986Thr)
c.4234G>A (p.Ala1412Thr)
10g.75030123G>CCA377300776DUSP29,KAT6Bc.5299G>C (p.Ala1767Pro)
c.4750G>C (p.Ala1584Pro)
c.4423G>C (p.Ala1475Pro)
n.577-3529C>G
c.*3622-3529C>G (n.*3622-3529C>G)
c.5137G>C (p.Ala1713Pro)
c.4261G>C (p.Ala1421Pro)
c.3610G>C (p.Ala1204Pro)
c.3214G>C (p.Ala1072Pro)
c.2956G>C (p.Ala986Pro)
c.4234G>C (p.Ala1412Pro)
10g.75030123G>TCA377300777DUSP29,KAT6Bc.5299G>T (p.Ala1767Ser)
c.4750G>T (p.Ala1584Ser)
c.4423G>T (p.Ala1475Ser)
n.577-3529C>A
c.*3622-3529C>A (n.*3622-3529C>A)
c.5137G>T (p.Ala1713Ser)
c.4261G>T (p.Ala1421Ser)
c.3610G>T (p.Ala1204Ser)
c.3214G>T (p.Ala1072Ser)
c.2956G>T (p.Ala986Ser)
c.4234G>T (p.Ala1412Ser)
 gnomAD v4 COSMIC
10g.75030124C>ACA377300780DUSP29,KAT6Bc.5300C>A (p.Ala1767Asp)
c.4751C>A (p.Ala1584Asp)
c.4424C>A (p.Ala1475Asp)
n.577-3530G>T
c.*3622-3530G>T (n.*3622-3530G>T)
c.5138C>A (p.Ala1713Asp)
c.4262C>A (p.Ala1421Asp)
c.3611C>A (p.Ala1204Asp)
c.3215C>A (p.Ala1072Asp)
c.2957C>A (p.Ala986Asp)
c.4235C>A (p.Ala1412Asp)
10g.75030124C>GCA377300781DUSP29,KAT6Bc.5300C>G (p.Ala1767Gly)
c.4751C>G (p.Ala1584Gly)
c.4424C>G (p.Ala1475Gly)
n.577-3530G>C
c.*3622-3530G>C (n.*3622-3530G>C)
c.5138C>G (p.Ala1713Gly)
c.4262C>G (p.Ala1421Gly)
c.3611C>G (p.Ala1204Gly)
c.3215C>G (p.Ala1072Gly)
c.2957C>G (p.Ala986Gly)
c.4235C>G (p.Ala1412Gly)
10g.75030124C>TCA377300782DUSP29,KAT6Bc.5300C>T (p.Ala1767Val)
c.4751C>T (p.Ala1584Val)
c.4424C>T (p.Ala1475Val)
n.577-3530G>A
c.*3622-3530G>A (n.*3622-3530G>A)
c.5138C>T (p.Ala1713Val)
c.4262C>T (p.Ala1421Val)
c.3611C>T (p.Ala1204Val)
c.3215C>T (p.Ala1072Val)
c.2957C>T (p.Ala986Val)
c.4235C>T (p.Ala1412Val)

Number of alleles fetched