Chr Mutation (hg38) CAid Gene Transcript Linkouts
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)
10g.75030125T>ACA470300804DUSP29,KAT6Bc.5301T>A (p.Ala1767=)
c.4752T>A (p.Ala1584=)
c.4425T>A (p.Ala1475=)
n.577-3531A>T
c.*3622-3531A>T (n.*3622-3531A>T)
c.5139T>A (p.Ala1713=)
c.4263T>A (p.Ala1421=)
c.3612T>A (p.Ala1204=)
c.3216T>A (p.Ala1072=)
c.2958T>A (p.Ala986=)
c.4236T>A (p.Ala1412=)
10g.75030125T>CCA5565168DUSP29,KAT6Bc.5301T>C (p.Ala1767=)
c.4752T>C (p.Ala1584=)
c.4425T>C (p.Ala1475=)
n.577-3531A>G
c.*3622-3531A>G (n.*3622-3531A>G)
c.5139T>C (p.Ala1713=)
c.4263T>C (p.Ala1421=)
c.3612T>C (p.Ala1204=)
c.3216T>C (p.Ala1072=)
c.2958T>C (p.Ala986=)
c.4236T>C (p.Ala1412=)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.75030125T>GCA470300805DUSP29,KAT6Bc.5301T>G (p.Ala1767=)
c.4752T>G (p.Ala1584=)
c.4425T>G (p.Ala1475=)
n.577-3531A>C
c.*3622-3531A>C (n.*3622-3531A>C)
c.5139T>G (p.Ala1713=)
c.4263T>G (p.Ala1421=)
c.3612T>G (p.Ala1204=)
c.3216T>G (p.Ala1072=)
c.2958T>G (p.Ala986=)
c.4236T>G (p.Ala1412=)
10g.75030125T=CA1920306955DUSP29,KAT6Bc.5301T= (p.Ala1767=)
c.4752T= (p.Ala1584=)
c.4425T= (p.Ala1475=)
n.577-3531A=
c.*3622-3531A= (n.*3622-3531A=)
c.5139T= (p.Ala1713=)
c.4263T= (p.Ala1421=)
c.3612T= (p.Ala1204=)
c.3216T= (p.Ala1072=)
c.2958T= (p.Ala986=)
c.4236T= (p.Ala1412=)
10g.75030126C>ACA377300786DUSP29,KAT6Bc.5302C>A (p.Gln1768Lys)
c.4753C>A (p.Gln1585Lys)
c.4426C>A (p.Gln1476Lys)
n.577-3532G>T
c.*3622-3532G>T (n.*3622-3532G>T)
c.5140C>A (p.Gln1714Lys)
c.4264C>A (p.Gln1422Lys)
c.3613C>A (p.Gln1205Lys)
c.3217C>A (p.Gln1073Lys)
c.2959C>A (p.Gln987Lys)
c.4237C>A (p.Gln1413Lys)
 ClinVar dbSNP
10g.75030126C=CA1920306956DUSP29,KAT6Bc.5302C= (p.Gln1768=)
c.4753C= (p.Gln1585=)
c.4426C= (p.Gln1476=)
n.577-3532G=
c.*3622-3532G= (n.*3622-3532G=)
c.5140C= (p.Gln1714=)
c.4264C= (p.Gln1422=)
c.3613C= (p.Gln1205=)
c.3217C= (p.Gln1073=)
c.2959C= (p.Gln987=)
c.4237C= (p.Gln1413=)
10g.75030126C>GCA377300787DUSP29,KAT6Bc.5302C>G (p.Gln1768Glu)
c.4753C>G (p.Gln1585Glu)
c.4426C>G (p.Gln1476Glu)
n.577-3532G>C
c.*3622-3532G>C (n.*3622-3532G>C)
c.5140C>G (p.Gln1714Glu)
c.4264C>G (p.Gln1422Glu)
c.3613C>G (p.Gln1205Glu)
c.3217C>G (p.Gln1073Glu)
c.2959C>G (p.Gln987Glu)
c.4237C>G (p.Gln1413Glu)
10g.75030126C>TCA377300789DUSP29,KAT6Bc.5302C>T (p.Gln1768Ter)
c.4753C>T (p.Gln1585Ter)
c.4426C>T (p.Gln1476Ter)
n.577-3532G>A
c.*3622-3532G>A (n.*3622-3532G>A)
c.5140C>T (p.Gln1714Ter)
c.4264C>T (p.Gln1422Ter)
c.3613C>T (p.Gln1205Ter)
c.3217C>T (p.Gln1073Ter)
c.2959C>T (p.Gln987Ter)
c.4237C>T (p.Gln1413Ter)
 ClinVar
10g.75030127A>CCA377300794DUSP29,KAT6Bc.5303A>C (p.Gln1768Pro)
c.4754A>C (p.Gln1585Pro)
c.4427A>C (p.Gln1476Pro)
n.577-3533T>G
c.*3622-3533T>G (n.*3622-3533T>G)
c.5141A>C (p.Gln1714Pro)
c.4265A>C (p.Gln1422Pro)
c.3614A>C (p.Gln1205Pro)
c.3218A>C (p.Gln1073Pro)
c.2960A>C (p.Gln987Pro)
c.4238A>C (p.Gln1413Pro)
10g.75030127A>GCA377300795DUSP29,KAT6Bc.5303A>G (p.Gln1768Arg)
c.4754A>G (p.Gln1585Arg)
c.4427A>G (p.Gln1476Arg)
n.577-3533T>C
c.*3622-3533T>C (n.*3622-3533T>C)
c.5141A>G (p.Gln1714Arg)
c.4265A>G (p.Gln1422Arg)
c.3614A>G (p.Gln1205Arg)
c.3218A>G (p.Gln1073Arg)
c.2960A>G (p.Gln987Arg)
c.4238A>G (p.Gln1413Arg)
10g.75030127A>TCA377300792DUSP29,KAT6Bc.5303A>T (p.Gln1768Leu)
c.4754A>T (p.Gln1585Leu)
c.4427A>T (p.Gln1476Leu)
n.577-3533T>A
c.*3622-3533T>A (n.*3622-3533T>A)
c.5141A>T (p.Gln1714Leu)
c.4265A>T (p.Gln1422Leu)
c.3614A>T (p.Gln1205Leu)
c.3218A>T (p.Gln1073Leu)
c.2960A>T (p.Gln987Leu)
c.4238A>T (p.Gln1413Leu)
10g.75030128G>ACA470300806DUSP29,KAT6Bc.5304G>A (p.Gln1768=)
c.4755G>A (p.Gln1585=)
c.4428G>A (p.Gln1476=)
n.577-3534C>T
c.*3622-3534C>T (n.*3622-3534C>T)
c.5142G>A (p.Gln1714=)
c.4266G>A (p.Gln1422=)
c.3615G>A (p.Gln1205=)
c.3219G>A (p.Gln1073=)
c.2961G>A (p.Gln987=)
c.4239G>A (p.Gln1413=)
 dbSNP gnomAD v2 gnomAD v4
10g.75030128G>CCA377300797DUSP29,KAT6Bc.5304G>C (p.Gln1768His)
c.4755G>C (p.Gln1585His)
c.4428G>C (p.Gln1476His)
n.577-3534C>G
c.*3622-3534C>G (n.*3622-3534C>G)
c.5142G>C (p.Gln1714His)
c.4266G>C (p.Gln1422His)
c.3615G>C (p.Gln1205His)
c.3219G>C (p.Gln1073His)
c.2961G>C (p.Gln987His)
c.4239G>C (p.Gln1413His)
10g.75030128G=CA1920306957DUSP29,KAT6Bc.5304G= (p.Gln1768=)
c.4755G= (p.Gln1585=)
c.4428G= (p.Gln1476=)
n.577-3534C=
c.*3622-3534C= (n.*3622-3534C=)
c.5142G= (p.Gln1714=)
c.4266G= (p.Gln1422=)
c.3615G= (p.Gln1205=)
c.3219G= (p.Gln1073=)
c.2961G= (p.Gln987=)
c.4239G= (p.Gln1413=)
10g.75030128G>TCA377300799DUSP29,KAT6Bc.5304G>T (p.Gln1768His)
c.4755G>T (p.Gln1585His)
c.4428G>T (p.Gln1476His)
n.577-3534C>A
c.*3622-3534C>A (n.*3622-3534C>A)
c.5142G>T (p.Gln1714His)
c.4266G>T (p.Gln1422His)
c.3615G>T (p.Gln1205His)
c.3219G>T (p.Gln1073His)
c.2961G>T (p.Gln987His)
c.4239G>T (p.Gln1413His)
 ClinVar gnomAD v4
10g.75030129T>ACA5565170DUSP29,KAT6Bc.5305T>A (p.Cys1769Ser)
c.4756T>A (p.Cys1586Ser)
c.4429T>A (p.Cys1477Ser)
n.577-3535A>T
c.*3622-3535A>T (n.*3622-3535A>T)
c.5143T>A (p.Cys1715Ser)
c.4267T>A (p.Cys1423Ser)
c.3616T>A (p.Cys1206Ser)
c.3220T>A (p.Cys1074Ser)
c.2962T>A (p.Cys988Ser)
c.4240T>A (p.Cys1414Ser)
 dbSNP ExAC gnomAD v3 gnomAD v4
10g.75030129T>CCA377300802DUSP29,KAT6Bc.5305T>C (p.Cys1769Arg)
c.4756T>C (p.Cys1586Arg)
c.4429T>C (p.Cys1477Arg)
n.577-3535A>G
c.*3622-3535A>G (n.*3622-3535A>G)
c.5143T>C (p.Cys1715Arg)
c.4267T>C (p.Cys1423Arg)
c.3616T>C (p.Cys1206Arg)
c.3220T>C (p.Cys1074Arg)
c.2962T>C (p.Cys988Arg)
c.4240T>C (p.Cys1414Arg)
10g.75030129T>GCA5565169DUSP29,KAT6Bc.5305T>G (p.Cys1769Gly)
c.4756T>G (p.Cys1586Gly)
c.4429T>G (p.Cys1477Gly)
n.577-3535A>C
c.*3622-3535A>C (n.*3622-3535A>C)
c.5143T>G (p.Cys1715Gly)
c.4267T>G (p.Cys1423Gly)
c.3616T>G (p.Cys1206Gly)
c.3220T>G (p.Cys1074Gly)
c.2962T>G (p.Cys988Gly)
c.4240T>G (p.Cys1414Gly)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.75030129T=CA1920306958DUSP29,KAT6Bc.5305T= (p.Cys1769=)
c.4756T= (p.Cys1586=)
c.4429T= (p.Cys1477=)
n.577-3535A=
c.*3622-3535A= (n.*3622-3535A=)
c.5143T= (p.Cys1715=)
c.4267T= (p.Cys1423=)
c.3616T= (p.Cys1206=)
c.3220T= (p.Cys1074=)
c.2962T= (p.Cys988=)
c.4240T= (p.Cys1414=)
10g.75030130G>ACA5565171DUSP29,KAT6Bc.5306G>A (p.Cys1769Tyr)
c.4757G>A (p.Cys1586Tyr)
c.4430G>A (p.Cys1477Tyr)
n.577-3536C>T
c.*3622-3536C>T (n.*3622-3536C>T)
c.5144G>A (p.Cys1715Tyr)
c.4268G>A (p.Cys1423Tyr)
c.3617G>A (p.Cys1206Tyr)
c.3221G>A (p.Cys1074Tyr)
c.2963G>A (p.Cys988Tyr)
c.4241G>A (p.Cys1414Tyr)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.75030130G>CCA377300807DUSP29,KAT6Bc.5306G>C (p.Cys1769Ser)
c.4757G>C (p.Cys1586Ser)
c.4430G>C (p.Cys1477Ser)
n.577-3536C>G
c.*3622-3536C>G (n.*3622-3536C>G)
c.5144G>C (p.Cys1715Ser)
c.4268G>C (p.Cys1423Ser)
c.3617G>C (p.Cys1206Ser)
c.3221G>C (p.Cys1074Ser)
c.2963G>C (p.Cys988Ser)
c.4241G>C (p.Cys1414Ser)
10g.75030130G=CA1920306959DUSP29,KAT6Bc.5306G= (p.Cys1769=)
c.4757G= (p.Cys1586=)
c.4430G= (p.Cys1477=)
n.577-3536C=
c.*3622-3536C= (n.*3622-3536C=)
c.5144G= (p.Cys1715=)
c.4268G= (p.Cys1423=)
c.3617G= (p.Cys1206=)
c.3221G= (p.Cys1074=)
c.2963G= (p.Cys988=)
c.4241G= (p.Cys1414=)
10g.75030130G>TCA377300809DUSP29,KAT6Bc.5306G>T (p.Cys1769Phe)
c.4757G>T (p.Cys1586Phe)
c.4430G>T (p.Cys1477Phe)
n.577-3536C>A
c.*3622-3536C>A (n.*3622-3536C>A)
c.5144G>T (p.Cys1715Phe)
c.4268G>T (p.Cys1423Phe)
c.3617G>T (p.Cys1206Phe)
c.3221G>T (p.Cys1074Phe)
c.2963G>T (p.Cys988Phe)
c.4241G>T (p.Cys1414Phe)
10g.75030131C>ACA377300811DUSP29,KAT6Bc.5307C>A (p.Cys1769Ter)
c.4758C>A (p.Cys1586Ter)
c.4431C>A (p.Cys1477Ter)
n.577-3537G>T
c.*3622-3537G>T (n.*3622-3537G>T)
c.5145C>A (p.Cys1715Ter)
c.4269C>A (p.Cys1423Ter)
c.3618C>A (p.Cys1206Ter)
c.3222C>A (p.Cys1074Ter)
c.2964C>A (p.Cys988Ter)
c.4242C>A (p.Cys1414Ter)
10g.75030131C=CA1920306960DUSP29,KAT6Bc.5307C= (p.Cys1769=)
c.4758C= (p.Cys1586=)
c.4431C= (p.Cys1477=)
n.577-3537G=
c.*3622-3537G= (n.*3622-3537G=)
c.5145C= (p.Cys1715=)
c.4269C= (p.Cys1423=)
c.3618C= (p.Cys1206=)
c.3222C= (p.Cys1074=)
c.2964C= (p.Cys988=)
c.4242C= (p.Cys1414=)
10g.75030131C>GCA5565172DUSP29,KAT6Bc.5307C>G (p.Cys1769Trp)
c.4758C>G (p.Cys1586Trp)
c.4431C>G (p.Cys1477Trp)
n.577-3537G>C
c.*3622-3537G>C (n.*3622-3537G>C)
c.5145C>G (p.Cys1715Trp)
c.4269C>G (p.Cys1423Trp)
c.3618C>G (p.Cys1206Trp)
c.3222C>G (p.Cys1074Trp)
c.2964C>G (p.Cys988Trp)
c.4242C>G (p.Cys1414Trp)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.75030131C>TCA470300807DUSP29,KAT6Bc.5307C>T (p.Cys1769=)
c.4758C>T (p.Cys1586=)
c.4431C>T (p.Cys1477=)
n.577-3537G>A
c.*3622-3537G>A (n.*3622-3537G>A)
c.5145C>T (p.Cys1715=)
c.4269C>T (p.Cys1423=)
c.3618C>T (p.Cys1206=)
c.3222C>T (p.Cys1074=)
c.2964C>T (p.Cys988=)
c.4242C>T (p.Cys1414=)
 dbSNP gnomAD v2 gnomAD v4
10g.75030132A>CCA377300815DUSP29,KAT6Bc.5308A>C (p.Ser1770Arg)
c.4759A>C (p.Ser1587Arg)
c.4432A>C (p.Ser1478Arg)
n.577-3538T>G
c.*3622-3538T>G (n.*3622-3538T>G)
c.5146A>C (p.Ser1716Arg)
c.4270A>C (p.Ser1424Arg)
c.3619A>C (p.Ser1207Arg)
c.3223A>C (p.Ser1075Arg)
c.2965A>C (p.Ser989Arg)
c.4243A>C (p.Ser1415Arg)
10g.75030132A>GCA377300816DUSP29,KAT6Bc.5308A>G (p.Ser1770Gly)
c.4759A>G (p.Ser1587Gly)
c.4432A>G (p.Ser1478Gly)
n.577-3538T>C
c.*3622-3538T>C (n.*3622-3538T>C)
c.5146A>G (p.Ser1716Gly)
c.4270A>G (p.Ser1424Gly)
c.3619A>G (p.Ser1207Gly)
c.3223A>G (p.Ser1075Gly)
c.2965A>G (p.Ser989Gly)
c.4243A>G (p.Ser1415Gly)
10g.75030132A>TCA377300818DUSP29,KAT6Bc.5308A>T (p.Ser1770Cys)
c.4759A>T (p.Ser1587Cys)
c.4432A>T (p.Ser1478Cys)
n.577-3538T>A
c.*3622-3538T>A (n.*3622-3538T>A)
c.5146A>T (p.Ser1716Cys)
c.4270A>T (p.Ser1424Cys)
c.3619A>T (p.Ser1207Cys)
c.3223A>T (p.Ser1075Cys)
c.2965A>T (p.Ser989Cys)
c.4243A>T (p.Ser1415Cys)
10g.75030133G>ACA377300825DUSP29,KAT6Bc.5309G>A (p.Ser1770Asn)
c.4760G>A (p.Ser1587Asn)
c.4433G>A (p.Ser1478Asn)
n.577-3539C>T
c.*3622-3539C>T (n.*3622-3539C>T)
c.5147G>A (p.Ser1716Asn)
c.4271G>A (p.Ser1424Asn)
c.3620G>A (p.Ser1207Asn)
c.3224G>A (p.Ser1075Asn)
c.2966G>A (p.Ser989Asn)
c.4244G>A (p.Ser1415Asn)
 gnomAD v4
10g.75030133G>CCA377300823DUSP29,KAT6Bc.5309G>C (p.Ser1770Thr)
c.4760G>C (p.Ser1587Thr)
c.4433G>C (p.Ser1478Thr)
n.577-3539C>G
c.*3622-3539C>G (n.*3622-3539C>G)
c.5147G>C (p.Ser1716Thr)
c.4271G>C (p.Ser1424Thr)
c.3620G>C (p.Ser1207Thr)
c.3224G>C (p.Ser1075Thr)
c.2966G>C (p.Ser989Thr)
c.4244G>C (p.Ser1415Thr)
 ClinVar dbSNP
10g.75030133G=CA1920306961DUSP29,KAT6Bc.5309G= (p.Ser1770=)
c.4760G= (p.Ser1587=)
c.4433G= (p.Ser1478=)
n.577-3539C=
c.*3622-3539C= (n.*3622-3539C=)
c.5147G= (p.Ser1716=)
c.4271G= (p.Ser1424=)
c.3620G= (p.Ser1207=)
c.3224G= (p.Ser1075=)
c.2966G= (p.Ser989=)
c.4244G= (p.Ser1415=)
10g.75030133G>TCA377300821DUSP29,KAT6Bc.5309G>T (p.Ser1770Ile)
c.4760G>T (p.Ser1587Ile)
c.4433G>T (p.Ser1478Ile)
n.577-3539C>A
c.*3622-3539C>A (n.*3622-3539C>A)
c.5147G>T (p.Ser1716Ile)
c.4271G>T (p.Ser1424Ile)
c.3620G>T (p.Ser1207Ile)
c.3224G>T (p.Ser1075Ile)
c.2966G>T (p.Ser989Ile)
c.4244G>T (p.Ser1415Ile)
10g.75030134C>ACA377300827DUSP29,KAT6Bc.5310C>A (p.Ser1770Arg)
c.4761C>A (p.Ser1587Arg)
c.4434C>A (p.Ser1478Arg)
n.577-3540G>T
c.*3622-3540G>T (n.*3622-3540G>T)
c.5148C>A (p.Ser1716Arg)
c.4272C>A (p.Ser1424Arg)
c.3621C>A (p.Ser1207Arg)
c.3225C>A (p.Ser1075Arg)
c.2967C>A (p.Ser989Arg)
c.4245C>A (p.Ser1415Arg)
10g.75030134C>GCA377300829DUSP29,KAT6Bc.5310C>G (p.Ser1770Arg)
c.4761C>G (p.Ser1587Arg)
c.4434C>G (p.Ser1478Arg)
n.577-3540G>C
c.*3622-3540G>C (n.*3622-3540G>C)
c.5148C>G (p.Ser1716Arg)
c.4272C>G (p.Ser1424Arg)
c.3621C>G (p.Ser1207Arg)
c.3225C>G (p.Ser1075Arg)
c.2967C>G (p.Ser989Arg)
c.4245C>G (p.Ser1415Arg)
10g.75030134C>TCA470300808DUSP29,KAT6Bc.5310C>T (p.Ser1770=)
c.4761C>T (p.Ser1587=)
c.4434C>T (p.Ser1478=)
n.577-3540G>A
c.*3622-3540G>A (n.*3622-3540G>A)
c.5148C>T (p.Ser1716=)
c.4272C>T (p.Ser1424=)
c.3621C>T (p.Ser1207=)
c.3225C>T (p.Ser1075=)
c.2967C>T (p.Ser989=)
c.4245C>T (p.Ser1415=)
 gnomAD v4
10g.75030135A=CA1920306962DUSP29,KAT6Bc.5311A= (p.Met1771=)
c.4762A= (p.Met1588=)
c.4435A= (p.Met1479=)
n.577-3541T=
c.*3622-3541T= (n.*3622-3541T=)
c.5149A= (p.Met1717=)
c.4273A= (p.Met1425=)
c.3622A= (p.Met1208=)
c.3226A= (p.Met1076=)
c.2968A= (p.Met990=)
c.4246A= (p.Met1416=)
10g.75030135A>CCA377300831DUSP29,KAT6Bc.5311A>C (p.Met1771Leu)
c.4762A>C (p.Met1588Leu)
c.4435A>C (p.Met1479Leu)
n.577-3541T>G
c.*3622-3541T>G (n.*3622-3541T>G)
c.5149A>C (p.Met1717Leu)
c.4273A>C (p.Met1425Leu)
c.3622A>C (p.Met1208Leu)
c.3226A>C (p.Met1076Leu)
c.2968A>C (p.Met990Leu)
c.4246A>C (p.Met1416Leu)
10g.75030135A>GCA377300832DUSP29,KAT6Bc.5311A>G (p.Met1771Val)
c.4762A>G (p.Met1588Val)
c.4435A>G (p.Met1479Val)
n.577-3541T>C
c.*3622-3541T>C (n.*3622-3541T>C)
c.5149A>G (p.Met1717Val)
c.4273A>G (p.Met1425Val)
c.3622A>G (p.Met1208Val)
c.3226A>G (p.Met1076Val)
c.2968A>G (p.Met990Val)
c.4246A>G (p.Met1416Val)
 ClinVar dbSNP gnomAD v4
10g.75030135A>TCA377300834DUSP29,KAT6Bc.5311A>T (p.Met1771Leu)
c.4762A>T (p.Met1588Leu)
c.4435A>T (p.Met1479Leu)
n.577-3541T>A
c.*3622-3541T>A (n.*3622-3541T>A)
c.5149A>T (p.Met1717Leu)
c.4273A>T (p.Met1425Leu)
c.3622A>T (p.Met1208Leu)
c.3226A>T (p.Met1076Leu)
c.2968A>T (p.Met990Leu)
c.4246A>T (p.Met1416Leu)
10g.75030136T>ACA377300836DUSP29,KAT6Bc.5312T>A (p.Met1771Lys)
c.4763T>A (p.Met1588Lys)
c.4436T>A (p.Met1479Lys)
n.577-3542A>T
c.*3622-3542A>T (n.*3622-3542A>T)
c.5150T>A (p.Met1717Lys)
c.4274T>A (p.Met1425Lys)
c.3623T>A (p.Met1208Lys)
c.3227T>A (p.Met1076Lys)
c.2969T>A (p.Met990Lys)
c.4247T>A (p.Met1416Lys)
 gnomAD v4
10g.75030136T>CCA377300837DUSP29,KAT6Bc.5312T>C (p.Met1771Thr)
c.4763T>C (p.Met1588Thr)
c.4436T>C (p.Met1479Thr)
n.577-3542A>G
c.*3622-3542A>G (n.*3622-3542A>G)
c.5150T>C (p.Met1717Thr)
c.4274T>C (p.Met1425Thr)
c.3623T>C (p.Met1208Thr)
c.3227T>C (p.Met1076Thr)
c.2969T>C (p.Met990Thr)
c.4247T>C (p.Met1416Thr)
10g.75030136T>GCA377300839DUSP29,KAT6Bc.5312T>G (p.Met1771Arg)
c.4763T>G (p.Met1588Arg)
c.4436T>G (p.Met1479Arg)
n.577-3542A>C
c.*3622-3542A>C (n.*3622-3542A>C)
c.5150T>G (p.Met1717Arg)
c.4274T>G (p.Met1425Arg)
c.3623T>G (p.Met1208Arg)
c.3227T>G (p.Met1076Arg)
c.2969T>G (p.Met990Arg)
c.4247T>G (p.Met1416Arg)
10g.75030137G>ACA377300842DUSP29,KAT6Bc.5313G>A (p.Met1771Ile)
c.4764G>A (p.Met1588Ile)
c.4437G>A (p.Met1479Ile)
n.577-3543C>T
c.*3622-3543C>T (n.*3622-3543C>T)
c.5151G>A (p.Met1717Ile)
c.4275G>A (p.Met1425Ile)
c.3624G>A (p.Met1208Ile)
c.3228G>A (p.Met1076Ile)
c.2970G>A (p.Met990Ile)
c.4248G>A (p.Met1416Ile)
 gnomAD v4
10g.75030137G>CCA377300843DUSP29,KAT6Bc.5313G>C (p.Met1771Ile)
c.4764G>C (p.Met1588Ile)
c.4437G>C (p.Met1479Ile)
n.577-3543C>G
c.*3622-3543C>G (n.*3622-3543C>G)
c.5151G>C (p.Met1717Ile)
c.4275G>C (p.Met1425Ile)
c.3624G>C (p.Met1208Ile)
c.3228G>C (p.Met1076Ile)
c.2970G>C (p.Met990Ile)
c.4248G>C (p.Met1416Ile)
10g.75030137G>TCA377300845DUSP29,KAT6Bc.5313G>T (p.Met1771Ile)
c.4764G>T (p.Met1588Ile)
c.4437G>T (p.Met1479Ile)
n.577-3543C>A
c.*3622-3543C>A (n.*3622-3543C>A)
c.5151G>T (p.Met1717Ile)
c.4275G>T (p.Met1425Ile)
c.3624G>T (p.Met1208Ile)
c.3228G>T (p.Met1076Ile)
c.2970G>T (p.Met990Ile)
c.4248G>T (p.Met1416Ile)
10g.75030138G>ACA377300848DUSP29,KAT6Bc.5314G>A (p.Ala1772Thr)
c.4765G>A (p.Ala1589Thr)
c.4438G>A (p.Ala1480Thr)
n.577-3544C>T
c.*3622-3544C>T (n.*3622-3544C>T)
c.5152G>A (p.Ala1718Thr)
c.4276G>A (p.Ala1426Thr)
c.3625G>A (p.Ala1209Thr)
c.3229G>A (p.Ala1077Thr)
c.2971G>A (p.Ala991Thr)
c.4249G>A (p.Ala1417Thr)
10g.75030138G>CCA377300849DUSP29,KAT6Bc.5314G>C (p.Ala1772Pro)
c.4765G>C (p.Ala1589Pro)
c.4438G>C (p.Ala1480Pro)
n.577-3544C>G
c.*3622-3544C>G (n.*3622-3544C>G)
c.5152G>C (p.Ala1718Pro)
c.4276G>C (p.Ala1426Pro)
c.3625G>C (p.Ala1209Pro)
c.3229G>C (p.Ala1077Pro)
c.2971G>C (p.Ala991Pro)
c.4249G>C (p.Ala1417Pro)
10g.75030138G>TCA377300851DUSP29,KAT6Bc.5314G>T (p.Ala1772Ser)
c.4765G>T (p.Ala1589Ser)
c.4438G>T (p.Ala1480Ser)
n.577-3544C>A
c.*3622-3544C>A (n.*3622-3544C>A)
c.5152G>T (p.Ala1718Ser)
c.4276G>T (p.Ala1426Ser)
c.3625G>T (p.Ala1209Ser)
c.3229G>T (p.Ala1077Ser)
c.2971G>T (p.Ala991Ser)
c.4249G>T (p.Ala1417Ser)
10g.75030141_75030143delCA2574587146DUSP29,KAT6Bc.5317_5319del (p.Ala1773del)
c.4768_4770del (p.Ala1590del)
c.4441_4443del (p.Ala1481del)
n.577-3546_577-3544del
c.*3622-3546_*3622-3544del (n.*3622-3546_*3622-3544del)
c.5155_5157del (p.Ala1719del)
c.4279_4281del (p.Ala1427del)
c.3628_3630del (p.Ala1210del)
c.3232_3234del (p.Ala1078del)
c.2974_2976del (p.Ala992del)
c.4252_4254del (p.Ala1418del)
10g.75030139C>ACA377300857DUSP29,KAT6Bc.5315C>A (p.Ala1772Asp)
c.4766C>A (p.Ala1589Asp)
c.4439C>A (p.Ala1480Asp)
n.577-3545G>T
c.*3622-3545G>T (n.*3622-3545G>T)
c.5153C>A (p.Ala1718Asp)
c.4277C>A (p.Ala1426Asp)
c.3626C>A (p.Ala1209Asp)
c.3230C>A (p.Ala1077Asp)
c.2972C>A (p.Ala991Asp)
c.4250C>A (p.Ala1417Asp)
10g.75030139C>GCA377300855DUSP29,KAT6Bc.5315C>G (p.Ala1772Gly)
c.4766C>G (p.Ala1589Gly)
c.4439C>G (p.Ala1480Gly)
n.577-3545G>C
c.*3622-3545G>C (n.*3622-3545G>C)
c.5153C>G (p.Ala1718Gly)
c.4277C>G (p.Ala1426Gly)
c.3626C>G (p.Ala1209Gly)
c.3230C>G (p.Ala1077Gly)
c.2972C>G (p.Ala991Gly)
c.4250C>G (p.Ala1417Gly)
10g.75030139C>TCA377300853DUSP29,KAT6Bc.5315C>T (p.Ala1772Val)
c.4766C>T (p.Ala1589Val)
c.4439C>T (p.Ala1480Val)
n.577-3545G>A
c.*3622-3545G>A (n.*3622-3545G>A)
c.5153C>T (p.Ala1718Val)
c.4277C>T (p.Ala1426Val)
c.3626C>T (p.Ala1209Val)
c.3230C>T (p.Ala1077Val)
c.2972C>T (p.Ala991Val)
c.4250C>T (p.Ala1417Val)
10g.75030140T>ACA470300811DUSP29,KAT6Bc.5316T>A (p.Ala1772=)
c.4767T>A (p.Ala1589=)
c.4440T>A (p.Ala1480=)
n.577-3546A>T
c.*3622-3546A>T (n.*3622-3546A>T)
c.5154T>A (p.Ala1718=)
c.4278T>A (p.Ala1426=)
c.3627T>A (p.Ala1209=)
c.3231T>A (p.Ala1077=)
c.2973T>A (p.Ala991=)
c.4251T>A (p.Ala1417=)
10g.75030140T>CCA470300809DUSP29,KAT6Bc.5316T>C (p.Ala1772=)
c.4767T>C (p.Ala1589=)
c.4440T>C (p.Ala1480=)
n.577-3546A>G
c.*3622-3546A>G (n.*3622-3546A>G)
c.5154T>C (p.Ala1718=)
c.4278T>C (p.Ala1426=)
c.3627T>C (p.Ala1209=)
c.3231T>C (p.Ala1077=)
c.2973T>C (p.Ala991=)
c.4251T>C (p.Ala1417=)
 gnomAD v4
10g.75030140T>GCA470300810DUSP29,KAT6Bc.5316T>G (p.Ala1772=)
c.4767T>G (p.Ala1589=)
c.4440T>G (p.Ala1480=)
n.577-3546A>C
c.*3622-3546A>C (n.*3622-3546A>C)
c.5154T>G (p.Ala1718=)
c.4278T>G (p.Ala1426=)
c.3627T>G (p.Ala1209=)
c.3231T>G (p.Ala1077=)
c.2973T>G (p.Ala991=)
c.4251T>G (p.Ala1417=)
10g.75030141G>ACA377300859DUSP29,KAT6Bc.5317G>A (p.Ala1773Thr)
c.4768G>A (p.Ala1590Thr)
c.4441G>A (p.Ala1481Thr)
n.577-3547C>T
c.*3622-3547C>T (n.*3622-3547C>T)
c.5155G>A (p.Ala1719Thr)
c.4279G>A (p.Ala1427Thr)
c.3628G>A (p.Ala1210Thr)
c.3232G>A (p.Ala1078Thr)
c.2974G>A (p.Ala992Thr)
c.4252G>A (p.Ala1418Thr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.75030141G>CCA377300861DUSP29,KAT6Bc.5317G>C (p.Ala1773Pro)
c.4768G>C (p.Ala1590Pro)
c.4441G>C (p.Ala1481Pro)
n.577-3547C>G
c.*3622-3547C>G (n.*3622-3547C>G)
c.5155G>C (p.Ala1719Pro)
c.4279G>C (p.Ala1427Pro)
c.3628G>C (p.Ala1210Pro)
c.3232G>C (p.Ala1078Pro)
c.2974G>C (p.Ala992Pro)
c.4252G>C (p.Ala1418Pro)
10g.75030141G=CA1920306963DUSP29,KAT6Bc.5317G= (p.Ala1773=)
c.4768G= (p.Ala1590=)
c.4441G= (p.Ala1481=)
n.577-3547C=
c.*3622-3547C= (n.*3622-3547C=)
c.5155G= (p.Ala1719=)
c.4279G= (p.Ala1427=)
c.3628G= (p.Ala1210=)
c.3232G= (p.Ala1078=)
c.2974G= (p.Ala992=)
c.4252G= (p.Ala1418=)
10g.75030141G>TCA377300863DUSP29,KAT6Bc.5317G>T (p.Ala1773Ser)
c.4768G>T (p.Ala1590Ser)
c.4441G>T (p.Ala1481Ser)
n.577-3547C>A
c.*3622-3547C>A (n.*3622-3547C>A)
c.5155G>T (p.Ala1719Ser)
c.4279G>T (p.Ala1427Ser)
c.3628G>T (p.Ala1210Ser)
c.3232G>T (p.Ala1078Ser)
c.2974G>T (p.Ala992Ser)
c.4252G>T (p.Ala1418Ser)
10g.75030142C>ACA377300865DUSP29,KAT6Bc.5318C>A (p.Ala1773Asp)
c.4769C>A (p.Ala1590Asp)
c.4442C>A (p.Ala1481Asp)
n.577-3548G>T
c.*3622-3548G>T (n.*3622-3548G>T)
c.5156C>A (p.Ala1719Asp)
c.4280C>A (p.Ala1427Asp)
c.3629C>A (p.Ala1210Asp)
c.3233C>A (p.Ala1078Asp)
c.2975C>A (p.Ala992Asp)
c.4253C>A (p.Ala1418Asp)
10g.75030142C>GCA377300866DUSP29,KAT6Bc.5318C>G (p.Ala1773Gly)
c.4769C>G (p.Ala1590Gly)
c.4442C>G (p.Ala1481Gly)
n.577-3548G>C
c.*3622-3548G>C (n.*3622-3548G>C)
c.5156C>G (p.Ala1719Gly)
c.4280C>G (p.Ala1427Gly)
c.3629C>G (p.Ala1210Gly)
c.3233C>G (p.Ala1078Gly)
c.2975C>G (p.Ala992Gly)
c.4253C>G (p.Ala1418Gly)
 gnomAD v4
10g.75030142C>TCA377300868DUSP29,KAT6Bc.5318C>T (p.Ala1773Val)
c.4769C>T (p.Ala1590Val)
c.4442C>T (p.Ala1481Val)
n.577-3548G>A
c.*3622-3548G>A (n.*3622-3548G>A)
c.5156C>T (p.Ala1719Val)
c.4280C>T (p.Ala1427Val)
c.3629C>T (p.Ala1210Val)
c.3233C>T (p.Ala1078Val)
c.2975C>T (p.Ala992Val)
c.4253C>T (p.Ala1418Val)
 gnomAD v4
10g.75030143T>ACA470300812DUSP29,KAT6Bc.5319T>A (p.Ala1773=)
c.4770T>A (p.Ala1590=)
c.4443T>A (p.Ala1481=)
n.577-3549A>T
c.*3622-3549A>T (n.*3622-3549A>T)
c.5157T>A (p.Ala1719=)
c.4281T>A (p.Ala1427=)
c.3630T>A (p.Ala1210=)
c.3234T>A (p.Ala1078=)
c.2976T>A (p.Ala992=)
c.4254T>A (p.Ala1418=)
10g.75030143T>CCA470300813DUSP29,KAT6Bc.5319T>C (p.Ala1773=)
c.4770T>C (p.Ala1590=)
c.4443T>C (p.Ala1481=)
n.577-3549A>G
c.*3622-3549A>G (n.*3622-3549A>G)
c.5157T>C (p.Ala1719=)
c.4281T>C (p.Ala1427=)
c.3630T>C (p.Ala1210=)
c.3234T>C (p.Ala1078=)
c.2976T>C (p.Ala992=)
c.4254T>C (p.Ala1418=)
10g.75030143T>GCA470300814DUSP29,KAT6Bc.5319T>G (p.Ala1773=)
c.4770T>G (p.Ala1590=)
c.4443T>G (p.Ala1481=)
n.577-3549A>C
c.*3622-3549A>C (n.*3622-3549A>C)
c.5157T>G (p.Ala1719=)
c.4281T>G (p.Ala1427=)
c.3630T>G (p.Ala1210=)
c.3234T>G (p.Ala1078=)
c.2976T>G (p.Ala992=)
c.4254T>G (p.Ala1418=)
10g.75030144A>CCA377300873DUSP29,KAT6Bc.5320A>C (p.Asn1774His)
c.4771A>C (p.Asn1591His)
c.4444A>C (p.Asn1482His)
n.577-3550T>G
c.*3622-3550T>G (n.*3622-3550T>G)
c.5158A>C (p.Asn1720His)
c.4282A>C (p.Asn1428His)
c.3631A>C (p.Asn1211His)
c.3235A>C (p.Asn1079His)
c.2977A>C (p.Asn993His)
c.4255A>C (p.Asn1419His)
10g.75030144A>GCA377300872DUSP29,KAT6Bc.5320A>G (p.Asn1774Asp)
c.4771A>G (p.Asn1591Asp)
c.4444A>G (p.Asn1482Asp)
n.577-3550T>C
c.*3622-3550T>C (n.*3622-3550T>C)
c.5158A>G (p.Asn1720Asp)
c.4282A>G (p.Asn1428Asp)
c.3631A>G (p.Asn1211Asp)
c.3235A>G (p.Asn1079Asp)
c.2977A>G (p.Asn993Asp)
c.4255A>G (p.Asn1419Asp)
10g.75030144A>TCA377300870DUSP29,KAT6Bc.5320A>T (p.Asn1774Tyr)
c.4771A>T (p.Asn1591Tyr)
c.4444A>T (p.Asn1482Tyr)
n.577-3550T>A
c.*3622-3550T>A (n.*3622-3550T>A)
c.5158A>T (p.Asn1720Tyr)
c.4282A>T (p.Asn1428Tyr)
c.3631A>T (p.Asn1211Tyr)
c.3235A>T (p.Asn1079Tyr)
c.2977A>T (p.Asn993Tyr)
c.4255A>T (p.Asn1419Tyr)
10g.75030145A>CCA377300876DUSP29,KAT6Bc.5321A>C (p.Asn1774Thr)
c.4772A>C (p.Asn1591Thr)
c.4445A>C (p.Asn1482Thr)
n.577-3551T>G
c.*3622-3551T>G (n.*3622-3551T>G)
c.5159A>C (p.Asn1720Thr)
c.4283A>C (p.Asn1428Thr)
c.3632A>C (p.Asn1211Thr)
c.3236A>C (p.Asn1079Thr)
c.2978A>C (p.Asn993Thr)
c.4256A>C (p.Asn1419Thr)
10g.75030145A>GCA377300878DUSP29,KAT6Bc.5321A>G (p.Asn1774Ser)
c.4772A>G (p.Asn1591Ser)
c.4445A>G (p.Asn1482Ser)
n.577-3551T>C
c.*3622-3551T>C (n.*3622-3551T>C)
c.5159A>G (p.Asn1720Ser)
c.4283A>G (p.Asn1428Ser)
c.3632A>G (p.Asn1211Ser)
c.3236A>G (p.Asn1079Ser)
c.2978A>G (p.Asn993Ser)
c.4256A>G (p.Asn1419Ser)
10g.75030145A>TCA377300879DUSP29,KAT6Bc.5321A>T (p.Asn1774Ile)
c.4772A>T (p.Asn1591Ile)
c.4445A>T (p.Asn1482Ile)
n.577-3551T>A
c.*3622-3551T>A (n.*3622-3551T>A)
c.5159A>T (p.Asn1720Ile)
c.4283A>T (p.Asn1428Ile)
c.3632A>T (p.Asn1211Ile)
c.3236A>T (p.Asn1079Ile)
c.2978A>T (p.Asn993Ile)
c.4256A>T (p.Asn1419Ile)
10g.75030146C>ACA377300881DUSP29,KAT6Bc.5322C>A (p.Asn1774Lys)
c.4773C>A (p.Asn1591Lys)
c.4446C>A (p.Asn1482Lys)
n.577-3552G>T
c.*3622-3552G>T (n.*3622-3552G>T)
c.5160C>A (p.Asn1720Lys)
c.4284C>A (p.Asn1428Lys)
c.3633C>A (p.Asn1211Lys)
c.3237C>A (p.Asn1079Lys)
c.2979C>A (p.Asn993Lys)
c.4257C>A (p.Asn1419Lys)
10g.75030146C=CA1920306964DUSP29,KAT6Bc.5322C= (p.Asn1774=)
c.4773C= (p.Asn1591=)
c.4446C= (p.Asn1482=)
n.577-3552G=
c.*3622-3552G= (n.*3622-3552G=)
c.5160C= (p.Asn1720=)
c.4284C= (p.Asn1428=)
c.3633C= (p.Asn1211=)
c.3237C= (p.Asn1079=)
c.2979C= (p.Asn993=)
c.4257C= (p.Asn1419=)
10g.75030146C>GCA377300883DUSP29,KAT6Bc.5322C>G (p.Asn1774Lys)
c.4773C>G (p.Asn1591Lys)
c.4446C>G (p.Asn1482Lys)
n.577-3552G>C
c.*3622-3552G>C (n.*3622-3552G>C)
c.5160C>G (p.Asn1720Lys)
c.4284C>G (p.Asn1428Lys)
c.3633C>G (p.Asn1211Lys)
c.3237C>G (p.Asn1079Lys)
c.2979C>G (p.Asn993Lys)
c.4257C>G (p.Asn1419Lys)
10g.75030146C>TCA5565173DUSP29,KAT6Bc.5322C>T (p.Asn1774=)
c.4773C>T (p.Asn1591=)
c.4446C>T (p.Asn1482=)
n.577-3552G>A
c.*3622-3552G>A (n.*3622-3552G>A)
c.5160C>T (p.Asn1720=)
c.4284C>T (p.Asn1428=)
c.3633C>T (p.Asn1211=)
c.3237C>T (p.Asn1079=)
c.2979C>T (p.Asn993=)
c.4257C>T (p.Asn1419=)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.75030147T>ACA377300886DUSP29,KAT6Bc.5323T>A (p.Phe1775Ile)
c.4774T>A (p.Phe1592Ile)
c.4447T>A (p.Phe1483Ile)
n.577-3553A>T
c.*3622-3553A>T (n.*3622-3553A>T)
c.5161T>A (p.Phe1721Ile)
c.4285T>A (p.Phe1429Ile)
c.3634T>A (p.Phe1212Ile)
c.3238T>A (p.Phe1080Ile)
c.2980T>A (p.Phe994Ile)
c.4258T>A (p.Phe1420Ile)
10g.75030147T>CCA377300889DUSP29,KAT6Bc.5323T>C (p.Phe1775Leu)
c.4774T>C (p.Phe1592Leu)
c.4447T>C (p.Phe1483Leu)
n.577-3553A>G
c.*3622-3553A>G (n.*3622-3553A>G)
c.5161T>C (p.Phe1721Leu)
c.4285T>C (p.Phe1429Leu)
c.3634T>C (p.Phe1212Leu)
c.3238T>C (p.Phe1080Leu)
c.2980T>C (p.Phe994Leu)
c.4258T>C (p.Phe1420Leu)
10g.75030147T>GCA377300888DUSP29,KAT6Bc.5323T>G (p.Phe1775Val)
c.4774T>G (p.Phe1592Val)
c.4447T>G (p.Phe1483Val)
n.577-3553A>C
c.*3622-3553A>C (n.*3622-3553A>C)
c.5161T>G (p.Phe1721Val)
c.4285T>G (p.Phe1429Val)
c.3634T>G (p.Phe1212Val)
c.3238T>G (p.Phe1080Val)
c.2980T>G (p.Phe994Val)
c.4258T>G (p.Phe1420Val)
10g.75030148T>ACA377300891DUSP29,KAT6Bc.5324T>A (p.Phe1775Tyr)
c.4775T>A (p.Phe1592Tyr)
c.4448T>A (p.Phe1483Tyr)
n.577-3554A>T
c.*3622-3554A>T (n.*3622-3554A>T)
c.5162T>A (p.Phe1721Tyr)
c.4286T>A (p.Phe1429Tyr)
c.3635T>A (p.Phe1212Tyr)
c.3239T>A (p.Phe1080Tyr)
c.2981T>A (p.Phe994Tyr)
c.4259T>A (p.Phe1420Tyr)
10g.75030148T>CCA377300892DUSP29,KAT6Bc.5324T>C (p.Phe1775Ser)
c.4775T>C (p.Phe1592Ser)
c.4448T>C (p.Phe1483Ser)
n.577-3554A>G
c.*3622-3554A>G (n.*3622-3554A>G)
c.5162T>C (p.Phe1721Ser)
c.4286T>C (p.Phe1429Ser)
c.3635T>C (p.Phe1212Ser)
c.3239T>C (p.Phe1080Ser)
c.2981T>C (p.Phe994Ser)
c.4259T>C (p.Phe1420Ser)
10g.75030148T>GCA377300894DUSP29,KAT6Bc.5324T>G (p.Phe1775Cys)
c.4775T>G (p.Phe1592Cys)
c.4448T>G (p.Phe1483Cys)
n.577-3554A>C
c.*3622-3554A>C (n.*3622-3554A>C)
c.5162T>G (p.Phe1721Cys)
c.4286T>G (p.Phe1429Cys)
c.3635T>G (p.Phe1212Cys)
c.3239T>G (p.Phe1080Cys)
c.2981T>G (p.Phe994Cys)
c.4259T>G (p.Phe1420Cys)
10g.75030149C>ACA377300896DUSP29,KAT6Bc.5325C>A (p.Phe1775Leu)
c.4776C>A (p.Phe1592Leu)
c.4449C>A (p.Phe1483Leu)
n.577-3555G>T
c.*3622-3555G>T (n.*3622-3555G>T)
c.5163C>A (p.Phe1721Leu)
c.4287C>A (p.Phe1429Leu)
c.3636C>A (p.Phe1212Leu)
c.3240C>A (p.Phe1080Leu)
c.2982C>A (p.Phe994Leu)
c.4260C>A (p.Phe1420Leu)
10g.75030149C>GCA377300899DUSP29,KAT6Bc.5325C>G (p.Phe1775Leu)
c.4776C>G (p.Phe1592Leu)
c.4449C>G (p.Phe1483Leu)
n.577-3555G>C
c.*3622-3555G>C (n.*3622-3555G>C)
c.5163C>G (p.Phe1721Leu)
c.4287C>G (p.Phe1429Leu)
c.3636C>G (p.Phe1212Leu)
c.3240C>G (p.Phe1080Leu)
c.2982C>G (p.Phe994Leu)
c.4260C>G (p.Phe1420Leu)
10g.75030149C>TCA470300815DUSP29,KAT6Bc.5325C>T (p.Phe1775=)
c.4776C>T (p.Phe1592=)
c.4449C>T (p.Phe1483=)
n.577-3555G>A
c.*3622-3555G>A (n.*3622-3555G>A)
c.5163C>T (p.Phe1721=)
c.4287C>T (p.Phe1429=)
c.3636C>T (p.Phe1212=)
c.3240C>T (p.Phe1080=)
c.2982C>T (p.Phe994=)
c.4260C>T (p.Phe1420=)
10g.75030150A>CCA377300901DUSP29,KAT6Bc.5326A>C (p.Thr1776Pro)
c.4777A>C (p.Thr1593Pro)
c.4450A>C (p.Thr1484Pro)
n.577-3556T>G
c.*3622-3556T>G (n.*3622-3556T>G)
c.5164A>C (p.Thr1722Pro)
c.4288A>C (p.Thr1430Pro)
c.3637A>C (p.Thr1213Pro)
c.3241A>C (p.Thr1081Pro)
c.2983A>C (p.Thr995Pro)
c.4261A>C (p.Thr1421Pro)
10g.75030150A>GCA377300903DUSP29,KAT6Bc.5326A>G (p.Thr1776Ala)
c.4777A>G (p.Thr1593Ala)
c.4450A>G (p.Thr1484Ala)
n.577-3556T>C
c.*3622-3556T>C (n.*3622-3556T>C)
c.5164A>G (p.Thr1722Ala)
c.4288A>G (p.Thr1430Ala)
c.3637A>G (p.Thr1213Ala)
c.3241A>G (p.Thr1081Ala)
c.2983A>G (p.Thr995Ala)
c.4261A>G (p.Thr1421Ala)
10g.75030150A>TCA377300904DUSP29,KAT6Bc.5326A>T (p.Thr1776Ser)
c.4777A>T (p.Thr1593Ser)
c.4450A>T (p.Thr1484Ser)
n.577-3556T>A
c.*3622-3556T>A (n.*3622-3556T>A)
c.5164A>T (p.Thr1722Ser)
c.4288A>T (p.Thr1430Ser)
c.3637A>T (p.Thr1213Ser)
c.3241A>T (p.Thr1081Ser)
c.2983A>T (p.Thr995Ser)
c.4261A>T (p.Thr1421Ser)
10g.75030151C>ACA5565174DUSP29,KAT6Bc.5327C>A (p.Thr1776Asn)
c.4778C>A (p.Thr1593Asn)
c.4451C>A (p.Thr1484Asn)
n.577-3557G>T
c.*3622-3557G>T (n.*3622-3557G>T)
c.5165C>A (p.Thr1722Asn)
c.4289C>A (p.Thr1430Asn)
c.3638C>A (p.Thr1213Asn)
c.3242C>A (p.Thr1081Asn)
c.2984C>A (p.Thr995Asn)
c.4262C>A (p.Thr1421Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
10g.75030151C=CA1920306965DUSP29,KAT6Bc.5327C= (p.Thr1776=)
c.4778C= (p.Thr1593=)
c.4451C= (p.Thr1484=)
n.577-3557G=
c.*3622-3557G= (n.*3622-3557G=)
c.5165C= (p.Thr1722=)
c.4289C= (p.Thr1430=)
c.3638C= (p.Thr1213=)
c.3242C= (p.Thr1081=)
c.2984C= (p.Thr995=)
c.4262C= (p.Thr1421=)
10g.75030151C>GCA377300908DUSP29,KAT6Bc.5327C>G (p.Thr1776Ser)
c.4778C>G (p.Thr1593Ser)
c.4451C>G (p.Thr1484Ser)
n.577-3557G>C
c.*3622-3557G>C (n.*3622-3557G>C)
c.5165C>G (p.Thr1722Ser)
c.4289C>G (p.Thr1430Ser)
c.3638C>G (p.Thr1213Ser)
c.3242C>G (p.Thr1081Ser)
c.2984C>G (p.Thr995Ser)
c.4262C>G (p.Thr1421Ser)
 gnomAD v4
10g.75030151C>TCA377300910DUSP29,KAT6Bc.5327C>T (p.Thr1776Ile)
c.4778C>T (p.Thr1593Ile)
c.4451C>T (p.Thr1484Ile)
n.577-3557G>A
c.*3622-3557G>A (n.*3622-3557G>A)
c.5165C>T (p.Thr1722Ile)
c.4289C>T (p.Thr1430Ile)
c.3638C>T (p.Thr1213Ile)
c.3242C>T (p.Thr1081Ile)
c.2984C>T (p.Thr995Ile)
c.4262C>T (p.Thr1421Ile)
 dbSNP gnomAD v4
10g.75030152C>ACA470300816DUSP29,KAT6Bc.5328C>A (p.Thr1776=)
c.4779C>A (p.Thr1593=)
c.4452C>A (p.Thr1484=)
n.577-3558G>T
c.*3622-3558G>T (n.*3622-3558G>T)
c.5166C>A (p.Thr1722=)
c.4290C>A (p.Thr1430=)
c.3639C>A (p.Thr1213=)
c.3243C>A (p.Thr1081=)
c.2985C>A (p.Thr995=)
c.4263C>A (p.Thr1421=)
10g.75030152C>GCA470300817DUSP29,KAT6Bc.5328C>G (p.Thr1776=)
c.4779C>G (p.Thr1593=)
c.4452C>G (p.Thr1484=)
n.577-3558G>C
c.*3622-3558G>C (n.*3622-3558G>C)
c.5166C>G (p.Thr1722=)
c.4290C>G (p.Thr1430=)
c.3639C>G (p.Thr1213=)
c.3243C>G (p.Thr1081=)
c.2985C>G (p.Thr995=)
c.4263C>G (p.Thr1421=)
10g.75030152C>TCA470300818DUSP29,KAT6Bc.5328C>T (p.Thr1776=)
c.4779C>T (p.Thr1593=)
c.4452C>T (p.Thr1484=)
n.577-3558G>A
c.*3622-3558G>A (n.*3622-3558G>A)
c.5166C>T (p.Thr1722=)
c.4290C>T (p.Thr1430=)
c.3639C>T (p.Thr1213=)
c.3243C>T (p.Thr1081=)
c.2985C>T (p.Thr995=)
c.4263C>T (p.Thr1421=)
10g.75030153C>ACA377300913DUSP29,KAT6Bc.5329C>A (p.Pro1777Thr)
c.4780C>A (p.Pro1594Thr)
c.4453C>A (p.Pro1485Thr)
n.577-3559G>T
c.*3622-3559G>T (n.*3622-3559G>T)
c.5167C>A (p.Pro1723Thr)
c.4291C>A (p.Pro1431Thr)
c.3640C>A (p.Pro1214Thr)
c.3244C>A (p.Pro1082Thr)
c.2986C>A (p.Pro996Thr)
c.4264C>A (p.Pro1422Thr)
10g.75030153C>GCA377300917DUSP29,KAT6Bc.5329C>G (p.Pro1777Ala)
c.4780C>G (p.Pro1594Ala)
c.4453C>G (p.Pro1485Ala)
n.577-3559G>C
c.*3622-3559G>C (n.*3622-3559G>C)
c.5167C>G (p.Pro1723Ala)
c.4291C>G (p.Pro1431Ala)
c.3640C>G (p.Pro1214Ala)
c.3244C>G (p.Pro1082Ala)
c.2986C>G (p.Pro996Ala)
c.4264C>G (p.Pro1422Ala)
10g.75030153C>TCA377300915DUSP29,KAT6Bc.5329C>T (p.Pro1777Ser)
c.4780C>T (p.Pro1594Ser)
c.4453C>T (p.Pro1485Ser)
n.577-3559G>A
c.*3622-3559G>A (n.*3622-3559G>A)
c.5167C>T (p.Pro1723Ser)
c.4291C>T (p.Pro1431Ser)
c.3640C>T (p.Pro1214Ser)
c.3244C>T (p.Pro1082Ser)
c.2986C>T (p.Pro996Ser)
c.4264C>T (p.Pro1422Ser)
10g.75030154C>ACA209710516DUSP29,KAT6Bc.5330C>A (p.Pro1777Gln)
c.4781C>A (p.Pro1594Gln)
c.4454C>A (p.Pro1485Gln)
n.577-3560G>T
c.*3622-3560G>T (n.*3622-3560G>T)
c.5168C>A (p.Pro1723Gln)
c.4292C>A (p.Pro1431Gln)
c.3641C>A (p.Pro1214Gln)
c.3245C>A (p.Pro1082Gln)
c.2987C>A (p.Pro996Gln)
c.4265C>A (p.Pro1422Gln)
 ClinVar dbSNP gnomAD v3 gnomAD v4
10g.75030154C=CA1920306966DUSP29,KAT6Bc.5330C= (p.Pro1777=)
c.4781C= (p.Pro1594=)
c.4454C= (p.Pro1485=)
n.577-3560G=
c.*3622-3560G= (n.*3622-3560G=)
c.5168C= (p.Pro1723=)
c.4292C= (p.Pro1431=)
c.3641C= (p.Pro1214=)
c.3245C= (p.Pro1082=)
c.2987C= (p.Pro996=)
c.4265C= (p.Pro1422=)
10g.75030154C>GCA5565175DUSP29,KAT6Bc.5330C>G (p.Pro1777Arg)
c.4781C>G (p.Pro1594Arg)
c.4454C>G (p.Pro1485Arg)
n.577-3560G>C
c.*3622-3560G>C (n.*3622-3560G>C)
c.5168C>G (p.Pro1723Arg)
c.4292C>G (p.Pro1431Arg)
c.3641C>G (p.Pro1214Arg)
c.3245C>G (p.Pro1082Arg)
c.2987C>G (p.Pro996Arg)
c.4265C>G (p.Pro1422Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.75030154C>TCA5565176DUSP29,KAT6Bc.5330C>T (p.Pro1777Leu)
c.4781C>T (p.Pro1594Leu)
c.4454C>T (p.Pro1485Leu)
n.577-3560G>A
c.*3622-3560G>A (n.*3622-3560G>A)
c.5168C>T (p.Pro1723Leu)
c.4292C>T (p.Pro1431Leu)
c.3641C>T (p.Pro1214Leu)
c.3245C>T (p.Pro1082Leu)
c.2987C>T (p.Pro996Leu)
c.4265C>T (p.Pro1422Leu)
 dbSNP ExAC gnomAD v4
10g.75030155A=CA1920306967DUSP29,KAT6Bc.5331A= (p.Pro1777=)
c.4782A= (p.Pro1594=)
c.4455A= (p.Pro1485=)
n.577-3561T=
c.*3622-3561T= (n.*3622-3561T=)
c.5169A= (p.Pro1723=)
c.4293A= (p.Pro1431=)
c.3642A= (p.Pro1214=)
c.3246A= (p.Pro1082=)
c.2988A= (p.Pro996=)
c.4266A= (p.Pro1422=)
10g.75030155A>CCA470300819DUSP29,KAT6Bc.5331A>C (p.Pro1777=)
c.4782A>C (p.Pro1594=)
c.4455A>C (p.Pro1485=)
n.577-3561T>G
c.*3622-3561T>G (n.*3622-3561T>G)
c.5169A>C (p.Pro1723=)
c.4293A>C (p.Pro1431=)
c.3642A>C (p.Pro1214=)
c.3246A>C (p.Pro1082=)
c.2988A>C (p.Pro996=)
c.4266A>C (p.Pro1422=)
 dbSNP
10g.75030155A>GCA470300820DUSP29,KAT6Bc.5331A>G (p.Pro1777=)
c.4782A>G (p.Pro1594=)
c.4455A>G (p.Pro1485=)
n.577-3561T>C
c.*3622-3561T>C (n.*3622-3561T>C)
c.5169A>G (p.Pro1723=)
c.4293A>G (p.Pro1431=)
c.3642A>G (p.Pro1214=)
c.3246A>G (p.Pro1082=)
c.2988A>G (p.Pro996=)
c.4266A>G (p.Pro1422=)
10g.75030155A>TCA470300821DUSP29,KAT6Bc.5331A>T (p.Pro1777=)
c.4782A>T (p.Pro1594=)
c.4455A>T (p.Pro1485=)
n.577-3561T>A
c.*3622-3561T>A (n.*3622-3561T>A)
c.5169A>T (p.Pro1723=)
c.4293A>T (p.Pro1431=)
c.3642A>T (p.Pro1214=)
c.3246A>T (p.Pro1082=)
c.2988A>T (p.Pro996=)
c.4266A>T (p.Pro1422=)
10g.75030156C>ACA377300924DUSP29,KAT6Bc.5332C>A (p.Pro1778Thr)
c.4783C>A (p.Pro1595Thr)
c.4456C>A (p.Pro1486Thr)
n.577-3562G>T
c.*3622-3562G>T (n.*3622-3562G>T)
c.5170C>A (p.Pro1724Thr)
c.4294C>A (p.Pro1432Thr)
c.3643C>A (p.Pro1215Thr)
c.3247C>A (p.Pro1083Thr)
c.2989C>A (p.Pro997Thr)
c.4267C>A (p.Pro1423Thr)
10g.75030156C>GCA377300926DUSP29,KAT6Bc.5332C>G (p.Pro1778Ala)
c.4783C>G (p.Pro1595Ala)
c.4456C>G (p.Pro1486Ala)
n.577-3562G>C
c.*3622-3562G>C (n.*3622-3562G>C)
c.5170C>G (p.Pro1724Ala)
c.4294C>G (p.Pro1432Ala)
c.3643C>G (p.Pro1215Ala)
c.3247C>G (p.Pro1083Ala)
c.2989C>G (p.Pro997Ala)
c.4267C>G (p.Pro1423Ala)
10g.75030156C>TCA377300928DUSP29,KAT6Bc.5332C>T (p.Pro1778Ser)
c.4783C>T (p.Pro1595Ser)
c.4456C>T (p.Pro1486Ser)
n.577-3562G>A
c.*3622-3562G>A (n.*3622-3562G>A)
c.5170C>T (p.Pro1724Ser)
c.4294C>T (p.Pro1432Ser)
c.3643C>T (p.Pro1215Ser)
c.3247C>T (p.Pro1083Ser)
c.2989C>T (p.Pro997Ser)
c.4267C>T (p.Pro1423Ser)
10g.75030157C>ACA377300930DUSP29,KAT6Bc.5333C>A (p.Pro1778His)
c.4784C>A (p.Pro1595His)
c.4457C>A (p.Pro1486His)
n.577-3563G>T
c.*3622-3563G>T (n.*3622-3563G>T)
c.5171C>A (p.Pro1724His)
c.4295C>A (p.Pro1432His)
c.3644C>A (p.Pro1215His)
c.3248C>A (p.Pro1083His)
c.2990C>A (p.Pro997His)
c.4268C>A (p.Pro1423His)
10g.75030157C=CA1920306968DUSP29,KAT6Bc.5333C= (p.Pro1778=)
c.4784C= (p.Pro1595=)
c.4457C= (p.Pro1486=)
n.577-3563G=
c.*3622-3563G= (n.*3622-3563G=)
c.5171C= (p.Pro1724=)
c.4295C= (p.Pro1432=)
c.3644C= (p.Pro1215=)
c.3248C= (p.Pro1083=)
c.2990C= (p.Pro997=)
c.4268C= (p.Pro1423=)
10g.75030157C>GCA5565177DUSP29,KAT6Bc.5333C>G (p.Pro1778Arg)
c.4784C>G (p.Pro1595Arg)
c.4457C>G (p.Pro1486Arg)
n.577-3563G>C
c.*3622-3563G>C (n.*3622-3563G>C)
c.5171C>G (p.Pro1724Arg)
c.4295C>G (p.Pro1432Arg)
c.3644C>G (p.Pro1215Arg)
c.3248C>G (p.Pro1083Arg)
c.2990C>G (p.Pro997Arg)
c.4268C>G (p.Pro1423Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.75030157C>TCA377300933DUSP29,KAT6Bc.5333C>T (p.Pro1778Leu)
c.4784C>T (p.Pro1595Leu)
c.4457C>T (p.Pro1486Leu)
n.577-3563G>A
c.*3622-3563G>A (n.*3622-3563G>A)
c.5171C>T (p.Pro1724Leu)
c.4295C>T (p.Pro1432Leu)
c.3644C>T (p.Pro1215Leu)
c.3248C>T (p.Pro1083Leu)
c.2990C>T (p.Pro997Leu)
c.4268C>T (p.Pro1423Leu)
10g.75030158C>ACA470300822DUSP29,KAT6Bc.5334C>A (p.Pro1778=)
c.4785C>A (p.Pro1595=)
c.4458C>A (p.Pro1486=)
n.577-3564G>T
c.*3622-3564G>T (n.*3622-3564G>T)
c.5172C>A (p.Pro1724=)
c.4296C>A (p.Pro1432=)
c.3645C>A (p.Pro1215=)
c.3249C>A (p.Pro1083=)
c.2991C>A (p.Pro997=)
c.4269C>A (p.Pro1423=)
10g.75030158C>GCA470300823DUSP29,KAT6Bc.5334C>G (p.Pro1778=)
c.4785C>G (p.Pro1595=)
c.4458C>G (p.Pro1486=)
n.577-3564G>C
c.*3622-3564G>C (n.*3622-3564G>C)
c.5172C>G (p.Pro1724=)
c.4296C>G (p.Pro1432=)
c.3645C>G (p.Pro1215=)
c.3249C>G (p.Pro1083=)
c.2991C>G (p.Pro997=)
c.4269C>G (p.Pro1423=)
10g.75030158C>TCA470300824DUSP29,KAT6Bc.5334C>T (p.Pro1778=)
c.4785C>T (p.Pro1595=)
c.4458C>T (p.Pro1486=)
n.577-3564G>A
c.*3622-3564G>A (n.*3622-3564G>A)
c.5172C>T (p.Pro1724=)
c.4296C>T (p.Pro1432=)
c.3645C>T (p.Pro1215=)
c.3249C>T (p.Pro1083=)
c.2991C>T (p.Pro997=)
c.4269C>T (p.Pro1423=)
10g.75030159A=CA1920306969DUSP29,KAT6Bc.5335A= (p.Met1779=)
c.4786A= (p.Met1596=)
c.4459A= (p.Met1487=)
n.577-3565T=
c.*3622-3565T= (n.*3622-3565T=)
c.5173A= (p.Met1725=)
c.4297A= (p.Met1433=)
c.3646A= (p.Met1216=)
c.3250A= (p.Met1084=)
c.2992A= (p.Met998=)
c.4270A= (p.Met1424=)
10g.75030159A>CCA377300935DUSP29,KAT6Bc.5335A>C (p.Met1779Leu)
c.4786A>C (p.Met1596Leu)
c.4459A>C (p.Met1487Leu)
n.577-3565T>G
c.*3622-3565T>G (n.*3622-3565T>G)
c.5173A>C (p.Met1725Leu)
c.4297A>C (p.Met1433Leu)
c.3646A>C (p.Met1216Leu)
c.3250A>C (p.Met1084Leu)
c.2992A>C (p.Met998Leu)
c.4270A>C (p.Met1424Leu)
10g.75030159A>GCA5565178DUSP29,KAT6Bc.5335A>G (p.Met1779Val)
c.4786A>G (p.Met1596Val)
c.4459A>G (p.Met1487Val)
n.577-3565T>C
c.*3622-3565T>C (n.*3622-3565T>C)
c.5173A>G (p.Met1725Val)
c.4297A>G (p.Met1433Val)
c.3646A>G (p.Met1216Val)
c.3250A>G (p.Met1084Val)
c.2992A>G (p.Met998Val)
c.4270A>G (p.Met1424Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.75030159A>TCA377300936DUSP29,KAT6Bc.5335A>T (p.Met1779Leu)
c.4786A>T (p.Met1596Leu)
c.4459A>T (p.Met1487Leu)
n.577-3565T>A
c.*3622-3565T>A (n.*3622-3565T>A)
c.5173A>T (p.Met1725Leu)
c.4297A>T (p.Met1433Leu)
c.3646A>T (p.Met1216Leu)
c.3250A>T (p.Met1084Leu)
c.2992A>T (p.Met998Leu)
c.4270A>T (p.Met1424Leu)
10g.75030160T>ACA377300937DUSP29,KAT6Bc.5336T>A (p.Met1779Lys)
c.4787T>A (p.Met1596Lys)
c.4460T>A (p.Met1487Lys)
n.577-3566A>T
c.*3622-3566A>T (n.*3622-3566A>T)
c.5174T>A (p.Met1725Lys)
c.4298T>A (p.Met1433Lys)
c.3647T>A (p.Met1216Lys)
c.3251T>A (p.Met1084Lys)
c.2993T>A (p.Met998Lys)
c.4271T>A (p.Met1424Lys)
10g.75030160T>CCA5565179DUSP29,KAT6Bc.5336T>C (p.Met1779Thr)
c.4787T>C (p.Met1596Thr)
c.4460T>C (p.Met1487Thr)
n.577-3566A>G
c.*3622-3566A>G (n.*3622-3566A>G)
c.5174T>C (p.Met1725Thr)
c.4298T>C (p.Met1433Thr)
c.3647T>C (p.Met1216Thr)
c.3251T>C (p.Met1084Thr)
c.2993T>C (p.Met998Thr)
c.4271T>C (p.Met1424Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.75030160T>GCA377300938DUSP29,KAT6Bc.5336T>G (p.Met1779Arg)
c.4787T>G (p.Met1596Arg)
c.4460T>G (p.Met1487Arg)
n.577-3566A>C
c.*3622-3566A>C (n.*3622-3566A>C)
c.5174T>G (p.Met1725Arg)
c.4298T>G (p.Met1433Arg)
c.3647T>G (p.Met1216Arg)
c.3251T>G (p.Met1084Arg)
c.2993T>G (p.Met998Arg)
c.4271T>G (p.Met1424Arg)
10g.75030160T=CA1920306970DUSP29,KAT6Bc.5336T= (p.Met1779=)
c.4787T= (p.Met1596=)
c.4460T= (p.Met1487=)
n.577-3566A=
c.*3622-3566A= (n.*3622-3566A=)
c.5174T= (p.Met1725=)
c.4298T= (p.Met1433=)
c.3647T= (p.Met1216=)
c.3251T= (p.Met1084=)
c.2993T= (p.Met998=)
c.4271T= (p.Met1424=)
10g.75030161G>ACA377300939DUSP29,KAT6Bc.5337G>A (p.Met1779Ile)
c.4788G>A (p.Met1596Ile)
c.4461G>A (p.Met1487Ile)
n.577-3567C>T
c.*3622-3567C>T (n.*3622-3567C>T)
c.5175G>A (p.Met1725Ile)
c.4299G>A (p.Met1433Ile)
c.3648G>A (p.Met1216Ile)
c.3252G>A (p.Met1084Ile)
c.2994G>A (p.Met998Ile)
c.4272G>A (p.Met1424Ile)
10g.75030161G>CCA377300941DUSP29,KAT6Bc.5337G>C (p.Met1779Ile)
c.4788G>C (p.Met1596Ile)
c.4461G>C (p.Met1487Ile)
n.577-3567C>G
c.*3622-3567C>G (n.*3622-3567C>G)
c.5175G>C (p.Met1725Ile)
c.4299G>C (p.Met1433Ile)
c.3648G>C (p.Met1216Ile)
c.3252G>C (p.Met1084Ile)
c.2994G>C (p.Met998Ile)
c.4272G>C (p.Met1424Ile)
10g.75030161G>TCA377300940DUSP29,KAT6Bc.5337G>T (p.Met1779Ile)
c.4788G>T (p.Met1596Ile)
c.4461G>T (p.Met1487Ile)
n.577-3567C>A
c.*3622-3567C>A (n.*3622-3567C>A)
c.5175G>T (p.Met1725Ile)
c.4299G>T (p.Met1433Ile)
c.3648G>T (p.Met1216Ile)
c.3252G>T (p.Met1084Ile)
c.2994G>T (p.Met998Ile)
c.4272G>T (p.Met1424Ile)
 gnomAD v4
10g.75030162C>ACA377300942DUSP29,KAT6Bc.5338C>A (p.Gln1780Lys)
c.4789C>A (p.Gln1597Lys)
c.4462C>A (p.Gln1488Lys)
n.577-3568G>T
c.*3622-3568G>T (n.*3622-3568G>T)
c.5176C>A (p.Gln1726Lys)
c.4300C>A (p.Gln1434Lys)
c.3649C>A (p.Gln1217Lys)
c.3253C>A (p.Gln1085Lys)
c.2995C>A (p.Gln999Lys)
c.4273C>A (p.Gln1425Lys)
10g.75030162C>GCA377300943DUSP29,KAT6Bc.5338C>G (p.Gln1780Glu)
c.4789C>G (p.Gln1597Glu)
c.4462C>G (p.Gln1488Glu)
n.577-3568G>C
c.*3622-3568G>C (n.*3622-3568G>C)
c.5176C>G (p.Gln1726Glu)
c.4300C>G (p.Gln1434Glu)
c.3649C>G (p.Gln1217Glu)
c.3253C>G (p.Gln1085Glu)
c.2995C>G (p.Gln999Glu)
c.4273C>G (p.Gln1425Glu)
10g.75030162C>TCA377300944DUSP29,KAT6Bc.5338C>T (p.Gln1780Ter)
c.4789C>T (p.Gln1597Ter)
c.4462C>T (p.Gln1488Ter)
n.577-3568G>A
c.*3622-3568G>A (n.*3622-3568G>A)
c.5176C>T (p.Gln1726Ter)
c.4300C>T (p.Gln1434Ter)
c.3649C>T (p.Gln1217Ter)
c.3253C>T (p.Gln1085Ter)
c.2995C>T (p.Gln999Ter)
c.4273C>T (p.Gln1425Ter)
10g.75030163A=CA1920306971DUSP29,KAT6Bc.5339A= (p.Gln1780=)
c.4790A= (p.Gln1597=)
c.4463A= (p.Gln1488=)
n.577-3569T=
c.*3622-3569T= (n.*3622-3569T=)
c.5177A= (p.Gln1726=)
c.4301A= (p.Gln1434=)
c.3650A= (p.Gln1217=)
c.3254A= (p.Gln1085=)
c.2996A= (p.Gln999=)
c.4274A= (p.Gln1425=)
10g.75030163A>CCA377300945DUSP29,KAT6Bc.5339A>C (p.Gln1780Pro)
c.4790A>C (p.Gln1597Pro)
c.4463A>C (p.Gln1488Pro)
n.577-3569T>G
c.*3622-3569T>G (n.*3622-3569T>G)
c.5177A>C (p.Gln1726Pro)
c.4301A>C (p.Gln1434Pro)
c.3650A>C (p.Gln1217Pro)
c.3254A>C (p.Gln1085Pro)
c.2996A>C (p.Gln999Pro)
c.4274A>C (p.Gln1425Pro)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.75030163A>GCA377300946DUSP29,KAT6Bc.5339A>G (p.Gln1780Arg)
c.4790A>G (p.Gln1597Arg)
c.4463A>G (p.Gln1488Arg)
n.577-3569T>C
c.*3622-3569T>C (n.*3622-3569T>C)
c.5177A>G (p.Gln1726Arg)
c.4301A>G (p.Gln1434Arg)
c.3650A>G (p.Gln1217Arg)
c.3254A>G (p.Gln1085Arg)
c.2996A>G (p.Gln999Arg)
c.4274A>G (p.Gln1425Arg)
10g.75030163A>TCA377300947DUSP29,KAT6Bc.5339A>T (p.Gln1780Leu)
c.4790A>T (p.Gln1597Leu)
c.4463A>T (p.Gln1488Leu)
n.577-3569T>A
c.*3622-3569T>A (n.*3622-3569T>A)
c.5177A>T (p.Gln1726Leu)
c.4301A>T (p.Gln1434Leu)
c.3650A>T (p.Gln1217Leu)
c.3254A>T (p.Gln1085Leu)
c.2996A>T (p.Gln999Leu)
c.4274A>T (p.Gln1425Leu)
10g.75030164G>ACA470300825DUSP29,KAT6Bc.5340G>A (p.Gln1780=)
c.4791G>A (p.Gln1597=)
c.4464G>A (p.Gln1488=)
n.577-3570C>T
c.*3622-3570C>T (n.*3622-3570C>T)
c.5178G>A (p.Gln1726=)
c.4302G>A (p.Gln1434=)
c.3651G>A (p.Gln1217=)
c.3255G>A (p.Gln1085=)
c.2997G>A (p.Gln999=)
c.4275G>A (p.Gln1425=)
 gnomAD v4
10g.75030164G>CCA377300948DUSP29,KAT6Bc.5340G>C (p.Gln1780His)
c.4791G>C (p.Gln1597His)
c.4464G>C (p.Gln1488His)
n.577-3570C>G
c.*3622-3570C>G (n.*3622-3570C>G)
c.5178G>C (p.Gln1726His)
c.4302G>C (p.Gln1434His)
c.3651G>C (p.Gln1217His)
c.3255G>C (p.Gln1085His)
c.2997G>C (p.Gln999His)
c.4275G>C (p.Gln1425His)
10g.75030164G>TCA377300949DUSP29,KAT6Bc.5340G>T (p.Gln1780His)
c.4791G>T (p.Gln1597His)
c.4464G>T (p.Gln1488His)
n.577-3570C>A
c.*3622-3570C>A (n.*3622-3570C>A)
c.5178G>T (p.Gln1726His)
c.4302G>T (p.Gln1434His)
c.3651G>T (p.Gln1217His)
c.3255G>T (p.Gln1085His)
c.2997G>T (p.Gln999His)
c.4275G>T (p.Gln1425His)
10g.75030165C>ACA377300950DUSP29,KAT6Bc.5341C>A (p.Leu1781Met)
c.4792C>A (p.Leu1598Met)
c.4465C>A (p.Leu1489Met)
n.577-3571G>T
c.*3622-3571G>T (n.*3622-3571G>T)
c.5179C>A (p.Leu1727Met)
c.4303C>A (p.Leu1435Met)
c.3652C>A (p.Leu1218Met)
c.3256C>A (p.Leu1086Met)
c.2998C>A (p.Leu1000Met)
c.4276C>A (p.Leu1426Met)
10g.75030165C=CA1920306972DUSP29,KAT6Bc.5341C= (p.Leu1781=)
c.4792C= (p.Leu1598=)
c.4465C= (p.Leu1489=)
n.577-3571G=
c.*3622-3571G= (n.*3622-3571G=)
c.5179C= (p.Leu1727=)
c.4303C= (p.Leu1435=)
c.3652C= (p.Leu1218=)
c.3256C= (p.Leu1086=)
c.2998C= (p.Leu1000=)
c.4276C= (p.Leu1426=)
10g.75030165C>GCA377300951DUSP29,KAT6Bc.5341C>G (p.Leu1781Val)
c.4792C>G (p.Leu1598Val)
c.4465C>G (p.Leu1489Val)
n.577-3571G>C
c.*3622-3571G>C (n.*3622-3571G>C)
c.5179C>G (p.Leu1727Val)
c.4303C>G (p.Leu1435Val)
c.3652C>G (p.Leu1218Val)
c.3256C>G (p.Leu1086Val)
c.2998C>G (p.Leu1000Val)
c.4276C>G (p.Leu1426Val)
 dbSNP gnomAD v2 gnomAD v4
10g.75030165C>TCA470300826DUSP29,KAT6Bc.5341C>T (p.Leu1781=)
c.4792C>T (p.Leu1598=)
c.4465C>T (p.Leu1489=)
n.577-3571G>A
c.*3622-3571G>A (n.*3622-3571G>A)
c.5179C>T (p.Leu1727=)
c.4303C>T (p.Leu1435=)
c.3652C>T (p.Leu1218=)
c.3256C>T (p.Leu1086=)
c.2998C>T (p.Leu1000=)
c.4276C>T (p.Leu1426=)
10g.75030166T>ACA377300953DUSP29,KAT6Bc.5342T>A (p.Leu1781Gln)
c.4793T>A (p.Leu1598Gln)
c.4466T>A (p.Leu1489Gln)
n.577-3572A>T
c.*3622-3572A>T (n.*3622-3572A>T)
c.5180T>A (p.Leu1727Gln)
c.4304T>A (p.Leu1435Gln)
c.3653T>A (p.Leu1218Gln)
c.3257T>A (p.Leu1086Gln)
c.2999T>A (p.Leu1000Gln)
c.4277T>A (p.Leu1426Gln)
10g.75030166T>CCA377300954DUSP29,KAT6Bc.5342T>C (p.Leu1781Pro)
c.4793T>C (p.Leu1598Pro)
c.4466T>C (p.Leu1489Pro)
n.577-3572A>G
c.*3622-3572A>G (n.*3622-3572A>G)
c.5180T>C (p.Leu1727Pro)
c.4304T>C (p.Leu1435Pro)
c.3653T>C (p.Leu1218Pro)
c.3257T>C (p.Leu1086Pro)
c.2999T>C (p.Leu1000Pro)
c.4277T>C (p.Leu1426Pro)
10g.75030166T>GCA377300952DUSP29,KAT6Bc.5342T>G (p.Leu1781Arg)
c.4793T>G (p.Leu1598Arg)
c.4466T>G (p.Leu1489Arg)
n.577-3572A>C
c.*3622-3572A>C (n.*3622-3572A>C)
c.5180T>G (p.Leu1727Arg)
c.4304T>G (p.Leu1435Arg)
c.3653T>G (p.Leu1218Arg)
c.3257T>G (p.Leu1086Arg)
c.2999T>G (p.Leu1000Arg)
c.4277T>G (p.Leu1426Arg)
10g.75030167G>ACA470300827DUSP29,KAT6Bc.5343G>A (p.Leu1781=)
c.4794G>A (p.Leu1598=)
c.4467G>A (p.Leu1489=)
n.577-3573C>T
c.*3622-3573C>T (n.*3622-3573C>T)
c.5181G>A (p.Leu1727=)
c.4305G>A (p.Leu1435=)
c.3654G>A (p.Leu1218=)
c.3258G>A (p.Leu1086=)
c.3000G>A (p.Leu1000=)
c.4278G>A (p.Leu1426=)
10g.75030167G>CCA470300828DUSP29,KAT6Bc.5343G>C (p.Leu1781=)
c.4794G>C (p.Leu1598=)
c.4467G>C (p.Leu1489=)
n.577-3573C>G
c.*3622-3573C>G (n.*3622-3573C>G)
c.5181G>C (p.Leu1727=)
c.4305G>C (p.Leu1435=)
c.3654G>C (p.Leu1218=)
c.3258G>C (p.Leu1086=)
c.3000G>C (p.Leu1000=)
c.4278G>C (p.Leu1426=)
10g.75030167G>TCA470300829DUSP29,KAT6Bc.5343G>T (p.Leu1781=)
c.4794G>T (p.Leu1598=)
c.4467G>T (p.Leu1489=)
n.577-3573C>A
c.*3622-3573C>A (n.*3622-3573C>A)
c.5181G>T (p.Leu1727=)
c.4305G>T (p.Leu1435=)
c.3654G>T (p.Leu1218=)
c.3258G>T (p.Leu1086=)
c.3000G>T (p.Leu1000=)
c.4278G>T (p.Leu1426=)
10g.75030168G>ACA5565180DUSP29,KAT6Bc.5344G>A (p.Ala1782Thr)
c.4795G>A (p.Ala1599Thr)
c.4468G>A (p.Ala1490Thr)
n.577-3574C>T
c.*3622-3574C>T (n.*3622-3574C>T)
c.5182G>A (p.Ala1728Thr)
c.4306G>A (p.Ala1436Thr)
c.3655G>A (p.Ala1219Thr)
c.3259G>A (p.Ala1087Thr)
c.3001G>A (p.Ala1001Thr)
c.4279G>A (p.Ala1427Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.75030168G>CCA377300955DUSP29,KAT6Bc.5344G>C (p.Ala1782Pro)
c.4795G>C (p.Ala1599Pro)
c.4468G>C (p.Ala1490Pro)
n.577-3574C>G
c.*3622-3574C>G (n.*3622-3574C>G)
c.5182G>C (p.Ala1728Pro)
c.4306G>C (p.Ala1436Pro)
c.3655G>C (p.Ala1219Pro)
c.3259G>C (p.Ala1087Pro)
c.3001G>C (p.Ala1001Pro)
c.4279G>C (p.Ala1427Pro)
10g.75030168G=CA1920306973DUSP29,KAT6Bc.5344G= (p.Ala1782=)
c.4795G= (p.Ala1599=)
c.4468G= (p.Ala1490=)
n.577-3574C=
c.*3622-3574C= (n.*3622-3574C=)
c.5182G= (p.Ala1728=)
c.4306G= (p.Ala1436=)
c.3655G= (p.Ala1219=)
c.3259G= (p.Ala1087=)
c.3001G= (p.Ala1001=)
c.4279G= (p.Ala1427=)
10g.75030168G>TCA377300956DUSP29,KAT6Bc.5344G>T (p.Ala1782Ser)
c.4795G>T (p.Ala1599Ser)
c.4468G>T (p.Ala1490Ser)
n.577-3574C>A
c.*3622-3574C>A (n.*3622-3574C>A)
c.5182G>T (p.Ala1728Ser)
c.4306G>T (p.Ala1436Ser)
c.3655G>T (p.Ala1219Ser)
c.3259G>T (p.Ala1087Ser)
c.3001G>T (p.Ala1001Ser)
c.4279G>T (p.Ala1427Ser)
10g.75030169C>ACA377300957DUSP29,KAT6Bc.5345C>A (p.Ala1782Asp)
c.4796C>A (p.Ala1599Asp)
c.4469C>A (p.Ala1490Asp)
n.577-3575G>T
c.*3622-3575G>T (n.*3622-3575G>T)
c.5183C>A (p.Ala1728Asp)
c.4307C>A (p.Ala1436Asp)
c.3656C>A (p.Ala1219Asp)
c.3260C>A (p.Ala1087Asp)
c.3002C>A (p.Ala1001Asp)
c.4280C>A (p.Ala1427Asp)
10g.75030169C>GCA377300958DUSP29,KAT6Bc.5345C>G (p.Ala1782Gly)
c.4796C>G (p.Ala1599Gly)
c.4469C>G (p.Ala1490Gly)
n.577-3575G>C
c.*3622-3575G>C (n.*3622-3575G>C)
c.5183C>G (p.Ala1728Gly)
c.4307C>G (p.Ala1436Gly)
c.3656C>G (p.Ala1219Gly)
c.3260C>G (p.Ala1087Gly)
c.3002C>G (p.Ala1001Gly)
c.4280C>G (p.Ala1427Gly)
10g.75030169C>TCA377300959DUSP29,KAT6Bc.5345C>T (p.Ala1782Val)
c.4796C>T (p.Ala1599Val)
c.4469C>T (p.Ala1490Val)
n.577-3575G>A
c.*3622-3575G>A (n.*3622-3575G>A)
c.5183C>T (p.Ala1728Val)
c.4307C>T (p.Ala1436Val)
c.3656C>T (p.Ala1219Val)
c.3260C>T (p.Ala1087Val)
c.3002C>T (p.Ala1001Val)
c.4280C>T (p.Ala1427Val)
10g.75030170T>ACA470300830DUSP29,KAT6Bc.5346T>A (p.Ala1782=)
c.4797T>A (p.Ala1599=)
c.4470T>A (p.Ala1490=)
n.577-3576A>T
c.*3622-3576A>T (n.*3622-3576A>T)
c.5184T>A (p.Ala1728=)
c.4308T>A (p.Ala1436=)
c.3657T>A (p.Ala1219=)
c.3261T>A (p.Ala1087=)
c.3003T>A (p.Ala1001=)
c.4281T>A (p.Ala1427=)
10g.75030170T>CCA470300831DUSP29,KAT6Bc.5346T>C (p.Ala1782=)
c.4797T>C (p.Ala1599=)
c.4470T>C (p.Ala1490=)
n.577-3576A>G
c.*3622-3576A>G (n.*3622-3576A>G)
c.5184T>C (p.Ala1728=)
c.4308T>C (p.Ala1436=)
c.3657T>C (p.Ala1219=)
c.3261T>C (p.Ala1087=)
c.3003T>C (p.Ala1001=)
c.4281T>C (p.Ala1427=)
 dbSNP gnomAD v2 gnomAD v4
10g.75030170T>GCA470300832DUSP29,KAT6Bc.5346T>G (p.Ala1782=)
c.4797T>G (p.Ala1599=)
c.4470T>G (p.Ala1490=)
n.577-3576A>C
c.*3622-3576A>C (n.*3622-3576A>C)
c.5184T>G (p.Ala1728=)
c.4308T>G (p.Ala1436=)
c.3657T>G (p.Ala1219=)
c.3261T>G (p.Ala1087=)
c.3003T>G (p.Ala1001=)
c.4281T>G (p.Ala1427=)
10g.75030170T=CA1920306974DUSP29,KAT6Bc.5346T= (p.Ala1782=)
c.4797T= (p.Ala1599=)
c.4470T= (p.Ala1490=)
n.577-3576A=
c.*3622-3576A= (n.*3622-3576A=)
c.5184T= (p.Ala1728=)
c.4308T= (p.Ala1436=)
c.3657T= (p.Ala1219=)
c.3261T= (p.Ala1087=)
c.3003T= (p.Ala1001=)
c.4281T= (p.Ala1427=)
10g.75030171G>ACA377300962DUSP29,KAT6Bc.5347G>A (p.Glu1783Lys)
c.4798G>A (p.Glu1600Lys)
c.4471G>A (p.Glu1491Lys)
n.577-3577C>T
c.*3622-3577C>T (n.*3622-3577C>T)
c.5185G>A (p.Glu1729Lys)
c.4309G>A (p.Glu1437Lys)
c.3658G>A (p.Glu1220Lys)
c.3262G>A (p.Glu1088Lys)
c.3004G>A (p.Glu1002Lys)
c.4282G>A (p.Glu1428Lys)
10g.75030171G>CCA377300960DUSP29,KAT6Bc.5347G>C (p.Glu1783Gln)
c.4798G>C (p.Glu1600Gln)
c.4471G>C (p.Glu1491Gln)
n.577-3577C>G
c.*3622-3577C>G (n.*3622-3577C>G)
c.5185G>C (p.Glu1729Gln)
c.4309G>C (p.Glu1437Gln)
c.3658G>C (p.Glu1220Gln)
c.3262G>C (p.Glu1088Gln)
c.3004G>C (p.Glu1002Gln)
c.4282G>C (p.Glu1428Gln)
10g.75030171G>TCA377300961DUSP29,KAT6Bc.5347G>T (p.Glu1783Ter)
c.4798G>T (p.Glu1600Ter)
c.4471G>T (p.Glu1491Ter)
n.577-3577C>A
c.*3622-3577C>A (n.*3622-3577C>A)
c.5185G>T (p.Glu1729Ter)
c.4309G>T (p.Glu1437Ter)
c.3658G>T (p.Glu1220Ter)
c.3262G>T (p.Glu1088Ter)
c.3004G>T (p.Glu1002Ter)
c.4282G>T (p.Glu1428Ter)
10g.75030172A>CCA377300963DUSP29,KAT6Bc.5348A>C (p.Glu1783Ala)
c.4799A>C (p.Glu1600Ala)
c.4472A>C (p.Glu1491Ala)
n.577-3578T>G
c.*3622-3578T>G (n.*3622-3578T>G)
c.5186A>C (p.Glu1729Ala)
c.4310A>C (p.Glu1437Ala)
c.3659A>C (p.Glu1220Ala)
c.3263A>C (p.Glu1088Ala)
c.3005A>C (p.Glu1002Ala)
c.4283A>C (p.Glu1428Ala)
10g.75030172A>GCA377300964DUSP29,KAT6Bc.5348A>G (p.Glu1783Gly)
c.4799A>G (p.Glu1600Gly)
c.4472A>G (p.Glu1491Gly)
n.577-3578T>C
c.*3622-3578T>C (n.*3622-3578T>C)
c.5186A>G (p.Glu1729Gly)
c.4310A>G (p.Glu1437Gly)
c.3659A>G (p.Glu1220Gly)
c.3263A>G (p.Glu1088Gly)
c.3005A>G (p.Glu1002Gly)
c.4283A>G (p.Glu1428Gly)
10g.75030172A>TCA377300965DUSP29,KAT6Bc.5348A>T (p.Glu1783Val)
c.4799A>T (p.Glu1600Val)
c.4472A>T (p.Glu1491Val)
n.577-3578T>A
c.*3622-3578T>A (n.*3622-3578T>A)
c.5186A>T (p.Glu1729Val)
c.4310A>T (p.Glu1437Val)
c.3659A>T (p.Glu1220Val)
c.3263A>T (p.Glu1088Val)
c.3005A>T (p.Glu1002Val)
c.4283A>T (p.Glu1428Val)
10g.75030173A>CCA377300966DUSP29,KAT6Bc.5349A>C (p.Glu1783Asp)
c.4800A>C (p.Glu1600Asp)
c.4473A>C (p.Glu1491Asp)
n.577-3579T>G
c.*3622-3579T>G (n.*3622-3579T>G)
c.5187A>C (p.Glu1729Asp)
c.4311A>C (p.Glu1437Asp)
c.3660A>C (p.Glu1220Asp)
c.3264A>C (p.Glu1088Asp)
c.3006A>C (p.Glu1002Asp)
c.4284A>C (p.Glu1428Asp)
10g.75030173A>GCA470300833DUSP29,KAT6Bc.5349A>G (p.Glu1783=)
c.4800A>G (p.Glu1600=)
c.4473A>G (p.Glu1491=)
n.577-3579T>C
c.*3622-3579T>C (n.*3622-3579T>C)
c.5187A>G (p.Glu1729=)
c.4311A>G (p.Glu1437=)
c.3660A>G (p.Glu1220=)
c.3264A>G (p.Glu1088=)
c.3006A>G (p.Glu1002=)
c.4284A>G (p.Glu1428=)
10g.75030173A>TCA377300967DUSP29,KAT6Bc.5349A>T (p.Glu1783Asp)
c.4800A>T (p.Glu1600Asp)
c.4473A>T (p.Glu1491Asp)
n.577-3579T>A
c.*3622-3579T>A (n.*3622-3579T>A)
c.5187A>T (p.Glu1729Asp)
c.4311A>T (p.Glu1437Asp)
c.3660A>T (p.Glu1220Asp)
c.3264A>T (p.Glu1088Asp)
c.3006A>T (p.Glu1002Asp)
c.4284A>T (p.Glu1428Asp)
 gnomAD v4
10g.75030174A=CA1920306975DUSP29,KAT6Bc.5350A= (p.Ile1784=)
c.4801A= (p.Ile1601=)
c.4474A= (p.Ile1492=)
n.577-3580T=
c.*3622-3580T= (n.*3622-3580T=)
c.5188A= (p.Ile1730=)
c.4312A= (p.Ile1438=)
c.3661A= (p.Ile1221=)
c.3265A= (p.Ile1089=)
c.3007A= (p.Ile1003=)
c.4285A= (p.Ile1429=)
10g.75030174A>CCA377300968DUSP29,KAT6Bc.5350A>C (p.Ile1784Leu)
c.4801A>C (p.Ile1601Leu)
c.4474A>C (p.Ile1492Leu)
n.577-3580T>G
c.*3622-3580T>G (n.*3622-3580T>G)
c.5188A>C (p.Ile1730Leu)
c.4312A>C (p.Ile1438Leu)
c.3661A>C (p.Ile1221Leu)
c.3265A>C (p.Ile1089Leu)
c.3007A>C (p.Ile1003Leu)
c.4285A>C (p.Ile1429Leu)
10g.75030174A>GCA5565181DUSP29,KAT6Bc.5350A>G (p.Ile1784Val)
c.4801A>G (p.Ile1601Val)
c.4474A>G (p.Ile1492Val)
n.577-3580T>C
c.*3622-3580T>C (n.*3622-3580T>C)
c.5188A>G (p.Ile1730Val)
c.4312A>G (p.Ile1438Val)
c.3661A>G (p.Ile1221Val)
c.3265A>G (p.Ile1089Val)
c.3007A>G (p.Ile1003Val)
c.4285A>G (p.Ile1429Val)
 dbSNP ExAC
10g.75030174A>TCA377300969DUSP29,KAT6Bc.5350A>T (p.Ile1784Phe)
c.4801A>T (p.Ile1601Phe)
c.4474A>T (p.Ile1492Phe)
n.577-3580T>A
c.*3622-3580T>A (n.*3622-3580T>A)
c.5188A>T (p.Ile1730Phe)
c.4312A>T (p.Ile1438Phe)
c.3661A>T (p.Ile1221Phe)
c.3265A>T (p.Ile1089Phe)
c.3007A>T (p.Ile1003Phe)
c.4285A>T (p.Ile1429Phe)
10g.75030175T>ACA377300970DUSP29,KAT6Bc.5351T>A (p.Ile1784Asn)
c.4802T>A (p.Ile1601Asn)
c.4475T>A (p.Ile1492Asn)
n.577-3581A>T
c.*3622-3581A>T (n.*3622-3581A>T)
c.5189T>A (p.Ile1730Asn)
c.4313T>A (p.Ile1438Asn)
c.3662T>A (p.Ile1221Asn)
c.3266T>A (p.Ile1089Asn)
c.3008T>A (p.Ile1003Asn)
c.4286T>A (p.Ile1429Asn)
 gnomAD v4
10g.75030175T>CCA377300971DUSP29,KAT6Bc.5351T>C (p.Ile1784Thr)
c.4802T>C (p.Ile1601Thr)
c.4475T>C (p.Ile1492Thr)
n.577-3581A>G
c.*3622-3581A>G (n.*3622-3581A>G)
c.5189T>C (p.Ile1730Thr)
c.4313T>C (p.Ile1438Thr)
c.3662T>C (p.Ile1221Thr)
c.3266T>C (p.Ile1089Thr)
c.3008T>C (p.Ile1003Thr)
c.4286T>C (p.Ile1429Thr)
10g.75030175T>GCA377300972DUSP29,KAT6Bc.5351T>G (p.Ile1784Ser)
c.4802T>G (p.Ile1601Ser)
c.4475T>G (p.Ile1492Ser)
n.577-3581A>C
c.*3622-3581A>C (n.*3622-3581A>C)
c.5189T>G (p.Ile1730Ser)
c.4313T>G (p.Ile1438Ser)
c.3662T>G (p.Ile1221Ser)
c.3266T>G (p.Ile1089Ser)
c.3008T>G (p.Ile1003Ser)
c.4286T>G (p.Ile1429Ser)
10g.75030176C>ACA470300834DUSP29,KAT6Bc.5352C>A (p.Ile1784=)
c.4803C>A (p.Ile1601=)
c.4476C>A (p.Ile1492=)
n.577-3582G>T
c.*3622-3582G>T (n.*3622-3582G>T)
c.5190C>A (p.Ile1730=)
c.4314C>A (p.Ile1438=)
c.3663C>A (p.Ile1221=)
c.3267C>A (p.Ile1089=)
c.3009C>A (p.Ile1003=)
c.4287C>A (p.Ile1429=)
10g.75030176C=CA1920306976DUSP29,KAT6Bc.5352C= (p.Ile1784=)
c.4803C= (p.Ile1601=)
c.4476C= (p.Ile1492=)
n.577-3582G=
c.*3622-3582G= (n.*3622-3582G=)
c.5190C= (p.Ile1730=)
c.4314C= (p.Ile1438=)
c.3663C= (p.Ile1221=)
c.3267C= (p.Ile1089=)
c.3009C= (p.Ile1003=)
c.4287C= (p.Ile1429=)
10g.75030176C>GCA377300973DUSP29,KAT6Bc.5352C>G (p.Ile1784Met)
c.4803C>G (p.Ile1601Met)
c.4476C>G (p.Ile1492Met)
n.577-3582G>C
c.*3622-3582G>C (n.*3622-3582G>C)
c.5190C>G (p.Ile1730Met)
c.4314C>G (p.Ile1438Met)
c.3663C>G (p.Ile1221Met)
c.3267C>G (p.Ile1089Met)
c.3009C>G (p.Ile1003Met)
c.4287C>G (p.Ile1429Met)
10g.75030176C>TCA5565182DUSP29,KAT6Bc.5352C>T (p.Ile1784=)
c.4803C>T (p.Ile1601=)
c.4476C>T (p.Ile1492=)
n.577-3582G>A
c.*3622-3582G>A (n.*3622-3582G>A)
c.5190C>T (p.Ile1730=)
c.4314C>T (p.Ile1438=)
c.3663C>T (p.Ile1221=)
c.3267C>T (p.Ile1089=)
c.3009C>T (p.Ile1003=)
c.4287C>T (p.Ile1429=)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.75030177C>ACA377300974DUSP29,KAT6Bc.5353C>A (p.Pro1785Thr)
c.4804C>A (p.Pro1602Thr)
c.4477C>A (p.Pro1493Thr)
n.577-3583G>T
c.*3622-3583G>T (n.*3622-3583G>T)
c.5191C>A (p.Pro1731Thr)
c.4315C>A (p.Pro1439Thr)
c.3664C>A (p.Pro1222Thr)
c.3268C>A (p.Pro1090Thr)
c.3010C>A (p.Pro1004Thr)
c.4288C>A (p.Pro1430Thr)
10g.75030177C=CA1920306977DUSP29,KAT6Bc.5353C= (p.Pro1785=)
c.4804C= (p.Pro1602=)
c.4477C= (p.Pro1493=)
n.577-3583G=
c.*3622-3583G= (n.*3622-3583G=)
c.5191C= (p.Pro1731=)
c.4315C= (p.Pro1439=)
c.3664C= (p.Pro1222=)
c.3268C= (p.Pro1090=)
c.3010C= (p.Pro1004=)
c.4288C= (p.Pro1430=)
10g.75030177C>GCA377300975DUSP29,KAT6Bc.5353C>G (p.Pro1785Ala)
c.4804C>G (p.Pro1602Ala)
c.4477C>G (p.Pro1493Ala)
n.577-3583G>C
c.*3622-3583G>C (n.*3622-3583G>C)
c.5191C>G (p.Pro1731Ala)
c.4315C>G (p.Pro1439Ala)
c.3664C>G (p.Pro1222Ala)
c.3268C>G (p.Pro1090Ala)
c.3010C>G (p.Pro1004Ala)
c.4288C>G (p.Pro1430Ala)
 gnomAD v4
10g.75030177C>TCA377300976DUSP29,KAT6Bc.5353C>T (p.Pro1785Ser)
c.4804C>T (p.Pro1602Ser)
c.4477C>T (p.Pro1493Ser)
n.577-3583G>A
c.*3622-3583G>A (n.*3622-3583G>A)
c.5191C>T (p.Pro1731Ser)
c.4315C>T (p.Pro1439Ser)
c.3664C>T (p.Pro1222Ser)
c.3268C>T (p.Pro1090Ser)
c.3010C>T (p.Pro1004Ser)
c.4288C>T (p.Pro1430Ser)
 dbSNP gnomAD v3 gnomAD v4
10g.75030178C>ACA377300977DUSP29,KAT6Bc.5354C>A (p.Pro1785His)
c.4805C>A (p.Pro1602His)
c.4478C>A (p.Pro1493His)
n.577-3584G>T
c.*3622-3584G>T (n.*3622-3584G>T)
c.5192C>A (p.Pro1731His)
c.4316C>A (p.Pro1439His)
c.3665C>A (p.Pro1222His)
c.3269C>A (p.Pro1090His)
c.3011C>A (p.Pro1004His)
c.4289C>A (p.Pro1430His)
10g.75030178C>GCA377300978DUSP29,KAT6Bc.5354C>G (p.Pro1785Arg)
c.4805C>G (p.Pro1602Arg)
c.4478C>G (p.Pro1493Arg)
n.577-3584G>C
c.*3622-3584G>C (n.*3622-3584G>C)
c.5192C>G (p.Pro1731Arg)
c.4316C>G (p.Pro1439Arg)
c.3665C>G (p.Pro1222Arg)
c.3269C>G (p.Pro1090Arg)
c.3011C>G (p.Pro1004Arg)
c.4289C>G (p.Pro1430Arg)
10g.75030178C>TCA377300979DUSP29,KAT6Bc.5354C>T (p.Pro1785Leu)
c.4805C>T (p.Pro1602Leu)
c.4478C>T (p.Pro1493Leu)
n.577-3584G>A
c.*3622-3584G>A (n.*3622-3584G>A)
c.5192C>T (p.Pro1731Leu)
c.4316C>T (p.Pro1439Leu)
c.3665C>T (p.Pro1222Leu)
c.3269C>T (p.Pro1090Leu)
c.3011C>T (p.Pro1004Leu)
c.4289C>T (p.Pro1430Leu)
10g.75030179C>ACA470300835DUSP29,KAT6Bc.5355C>A (p.Pro1785=)
c.4806C>A (p.Pro1602=)
c.4479C>A (p.Pro1493=)
n.577-3585G>T
c.*3622-3585G>T (n.*3622-3585G>T)
c.5193C>A (p.Pro1731=)
c.4317C>A (p.Pro1439=)
c.3666C>A (p.Pro1222=)
c.3270C>A (p.Pro1090=)
c.3012C>A (p.Pro1004=)
c.4290C>A (p.Pro1430=)
10g.75030179C=CA1920306978DUSP29,KAT6Bc.5355C= (p.Pro1785=)
c.4806C= (p.Pro1602=)
c.4479C= (p.Pro1493=)
n.577-3585G=
c.*3622-3585G= (n.*3622-3585G=)
c.5193C= (p.Pro1731=)
c.4317C= (p.Pro1439=)
c.3666C= (p.Pro1222=)
c.3270C= (p.Pro1090=)
c.3012C= (p.Pro1004=)
c.4290C= (p.Pro1430=)
10g.75030179C>GCA470300836DUSP29,KAT6Bc.5355C>G (p.Pro1785=)
c.4806C>G (p.Pro1602=)
c.4479C>G (p.Pro1493=)
n.577-3585G>C
c.*3622-3585G>C (n.*3622-3585G>C)
c.5193C>G (p.Pro1731=)
c.4317C>G (p.Pro1439=)
c.3666C>G (p.Pro1222=)
c.3270C>G (p.Pro1090=)
c.3012C>G (p.Pro1004=)
c.4290C>G (p.Pro1430=)
10g.75030179C>TCA5565183DUSP29,KAT6Bc.5355C>T (p.Pro1785=)
c.4806C>T (p.Pro1602=)
c.4479C>T (p.Pro1493=)
n.577-3585G>A
c.*3622-3585G>A (n.*3622-3585G>A)
c.5193C>T (p.Pro1731=)
c.4317C>T (p.Pro1439=)
c.3666C>T (p.Pro1222=)
c.3270C>T (p.Pro1090=)
c.3012C>T (p.Pro1004=)
c.4290C>T (p.Pro1430=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.75030180G>ACA209710557DUSP29,KAT6Bc.5356G>A (p.Glu1786Lys)
c.4807G>A (p.Glu1603Lys)
c.4480G>A (p.Glu1494Lys)
n.577-3586C>T
c.*3622-3586C>T (n.*3622-3586C>T)
c.5194G>A (p.Glu1732Lys)
c.4318G>A (p.Glu1440Lys)
c.3667G>A (p.Glu1223Lys)
c.3271G>A (p.Glu1091Lys)
c.3013G>A (p.Glu1005Lys)
c.4291G>A (p.Glu1431Lys)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.75030180G>CCA377300981DUSP29,KAT6Bc.5356G>C (p.Glu1786Gln)
c.4807G>C (p.Glu1603Gln)
c.4480G>C (p.Glu1494Gln)
n.577-3586C>G
c.*3622-3586C>G (n.*3622-3586C>G)
c.5194G>C (p.Glu1732Gln)
c.4318G>C (p.Glu1440Gln)
c.3667G>C (p.Glu1223Gln)
c.3271G>C (p.Glu1091Gln)
c.3013G>C (p.Glu1005Gln)
c.4291G>C (p.Glu1431Gln)
10g.75030180G=CA1920306979DUSP29,KAT6Bc.5356G= (p.Glu1786=)
c.4807G= (p.Glu1603=)
c.4480G= (p.Glu1494=)
n.577-3586C=
c.*3622-3586C= (n.*3622-3586C=)
c.5194G= (p.Glu1732=)
c.4318G= (p.Glu1440=)
c.3667G= (p.Glu1223=)
c.3271G= (p.Glu1091=)
c.3013G= (p.Glu1005=)
c.4291G= (p.Glu1431=)
10g.75030180G>TCA377300980DUSP29,KAT6Bc.5356G>T (p.Glu1786Ter)
c.4807G>T (p.Glu1603Ter)
c.4480G>T (p.Glu1494Ter)
n.577-3586C>A
c.*3622-3586C>A (n.*3622-3586C>A)
c.5194G>T (p.Glu1732Ter)
c.4318G>T (p.Glu1440Ter)
c.3667G>T (p.Glu1223Ter)
c.3271G>T (p.Glu1091Ter)
c.3013G>T (p.Glu1005Ter)
c.4291G>T (p.Glu1431Ter)
 ClinVar
10g.75030181A=CA1920306980DUSP29,KAT6Bc.5357A= (p.Glu1786=)
c.4808A= (p.Glu1603=)
c.4481A= (p.Glu1494=)
n.577-3587T=
c.*3622-3587T= (n.*3622-3587T=)
c.5195A= (p.Glu1732=)
c.4319A= (p.Glu1440=)
c.3668A= (p.Glu1223=)
c.3272A= (p.Glu1091=)
c.3014A= (p.Glu1005=)
c.4292A= (p.Glu1431=)
10g.75030181A>CCA377300982DUSP29,KAT6Bc.5357A>C (p.Glu1786Ala)
c.4808A>C (p.Glu1603Ala)
c.4481A>C (p.Glu1494Ala)
n.577-3587T>G
c.*3622-3587T>G (n.*3622-3587T>G)
c.5195A>C (p.Glu1732Ala)
c.4319A>C (p.Glu1440Ala)
c.3668A>C (p.Glu1223Ala)
c.3272A>C (p.Glu1091Ala)
c.3014A>C (p.Glu1005Ala)
c.4292A>C (p.Glu1431Ala)
 ClinVar dbSNP gnomAD v2 gnomAD v4
10g.75030181A>GCA377300984DUSP29,KAT6Bc.5357A>G (p.Glu1786Gly)
c.4808A>G (p.Glu1603Gly)
c.4481A>G (p.Glu1494Gly)
n.577-3587T>C
c.*3622-3587T>C (n.*3622-3587T>C)
c.5195A>G (p.Glu1732Gly)
c.4319A>G (p.Glu1440Gly)
c.3668A>G (p.Glu1223Gly)
c.3272A>G (p.Glu1091Gly)
c.3014A>G (p.Glu1005Gly)
c.4292A>G (p.Glu1431Gly)
10g.75030181A>TCA377300983DUSP29,KAT6Bc.5357A>T (p.Glu1786Val)
c.4808A>T (p.Glu1603Val)
c.4481A>T (p.Glu1494Val)
n.577-3587T>A
c.*3622-3587T>A (n.*3622-3587T>A)
c.5195A>T (p.Glu1732Val)
c.4319A>T (p.Glu1440Val)
c.3668A>T (p.Glu1223Val)
c.3272A>T (p.Glu1091Val)
c.3014A>T (p.Glu1005Val)
c.4292A>T (p.Glu1431Val)
10g.75030182G>ACA470300837DUSP29,KAT6Bc.5358G>A (p.Glu1786=)
c.4809G>A (p.Glu1603=)
c.4482G>A (p.Glu1494=)
n.577-3588C>T
c.*3622-3588C>T (n.*3622-3588C>T)
c.5196G>A (p.Glu1732=)
c.4320G>A (p.Glu1440=)
c.3669G>A (p.Glu1223=)
c.3273G>A (p.Glu1091=)
c.3015G>A (p.Glu1005=)
c.4293G>A (p.Glu1431=)
10g.75030182G>CCA377300985DUSP29,KAT6Bc.5358G>C (p.Glu1786Asp)
c.4809G>C (p.Glu1603Asp)
c.4482G>C (p.Glu1494Asp)
n.577-3588C>G
c.*3622-3588C>G (n.*3622-3588C>G)
c.5196G>C (p.Glu1732Asp)
c.4320G>C (p.Glu1440Asp)
c.3669G>C (p.Glu1223Asp)
c.3273G>C (p.Glu1091Asp)
c.3015G>C (p.Glu1005Asp)
c.4293G>C (p.Glu1431Asp)
10g.75030182G>TCA377300986DUSP29,KAT6Bc.5358G>T (p.Glu1786Asp)
c.4809G>T (p.Glu1603Asp)
c.4482G>T (p.Glu1494Asp)
n.577-3588C>A
c.*3622-3588C>A (n.*3622-3588C>A)
c.5196G>T (p.Glu1732Asp)
c.4320G>T (p.Glu1440Asp)
c.3669G>T (p.Glu1223Asp)
c.3273G>T (p.Glu1091Asp)
c.3015G>T (p.Glu1005Asp)
c.4293G>T (p.Glu1431Asp)
10g.75030183A>CCA377300987DUSP29,KAT6Bc.5359A>C (p.Thr1787Pro)
c.4810A>C (p.Thr1604Pro)
c.4483A>C (p.Thr1495Pro)
n.577-3589T>G
c.*3622-3589T>G (n.*3622-3589T>G)
c.5197A>C (p.Thr1733Pro)
c.4321A>C (p.Thr1441Pro)
c.3670A>C (p.Thr1224Pro)
c.3274A>C (p.Thr1092Pro)
c.3016A>C (p.Thr1006Pro)
c.4294A>C (p.Thr1432Pro)
10g.75030183A>GCA377300988DUSP29,KAT6Bc.5359A>G (p.Thr1787Ala)
c.4810A>G (p.Thr1604Ala)
c.4483A>G (p.Thr1495Ala)
n.577-3589T>C
c.*3622-3589T>C (n.*3622-3589T>C)
c.5197A>G (p.Thr1733Ala)
c.4321A>G (p.Thr1441Ala)
c.3670A>G (p.Thr1224Ala)
c.3274A>G (p.Thr1092Ala)
c.3016A>G (p.Thr1006Ala)
c.4294A>G (p.Thr1432Ala)
10g.75030183A>TCA377300989DUSP29,KAT6Bc.5359A>T (p.Thr1787Ser)
c.4810A>T (p.Thr1604Ser)
c.4483A>T (p.Thr1495Ser)
n.577-3589T>A
c.*3622-3589T>A (n.*3622-3589T>A)
c.5197A>T (p.Thr1733Ser)
c.4321A>T (p.Thr1441Ser)
c.3670A>T (p.Thr1224Ser)
c.3274A>T (p.Thr1092Ser)
c.3016A>T (p.Thr1006Ser)
c.4294A>T (p.Thr1432Ser)
10g.75030184C>ACA377300990DUSP29,KAT6Bc.5360C>A (p.Thr1787Lys)
c.4811C>A (p.Thr1604Lys)
c.4484C>A (p.Thr1495Lys)
n.577-3590G>T
c.*3622-3590G>T (n.*3622-3590G>T)
c.5198C>A (p.Thr1733Lys)
c.4322C>A (p.Thr1441Lys)
c.3671C>A (p.Thr1224Lys)
c.3275C>A (p.Thr1092Lys)
c.3017C>A (p.Thr1006Lys)
c.4295C>A (p.Thr1432Lys)
10g.75030184C=CA1920306981DUSP29,KAT6Bc.5360C= (p.Thr1787=)
c.4811C= (p.Thr1604=)
c.4484C= (p.Thr1495=)
n.577-3590G=
c.*3622-3590G= (n.*3622-3590G=)
c.5198C= (p.Thr1733=)
c.4322C= (p.Thr1441=)
c.3671C= (p.Thr1224=)
c.3275C= (p.Thr1092=)
c.3017C= (p.Thr1006=)
c.4295C= (p.Thr1432=)
10g.75030184C>GCA377300991DUSP29,KAT6Bc.5360C>G (p.Thr1787Arg)
c.4811C>G (p.Thr1604Arg)
c.4484C>G (p.Thr1495Arg)
n.577-3590G>C
c.*3622-3590G>C (n.*3622-3590G>C)
c.5198C>G (p.Thr1733Arg)
c.4322C>G (p.Thr1441Arg)
c.3671C>G (p.Thr1224Arg)
c.3275C>G (p.Thr1092Arg)
c.3017C>G (p.Thr1006Arg)
c.4295C>G (p.Thr1432Arg)
 gnomAD v4
10g.75030184C>TCA5565184DUSP29,KAT6Bc.5360C>T (p.Thr1787Met)
c.4811C>T (p.Thr1604Met)
c.4484C>T (p.Thr1495Met)
n.577-3590G>A
c.*3622-3590G>A (n.*3622-3590G>A)
c.5198C>T (p.Thr1733Met)
c.4322C>T (p.Thr1441Met)
c.3671C>T (p.Thr1224Met)
c.3275C>T (p.Thr1092Met)
c.3017C>T (p.Thr1006Met)
c.4295C>T (p.Thr1432Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
10g.75030185G>ACA5565185DUSP29,KAT6Bc.5361G>A (p.Thr1787=)
c.4812G>A (p.Thr1604=)
c.4485G>A (p.Thr1495=)
n.577-3591C>T
c.*3622-3591C>T (n.*3622-3591C>T)
c.5199G>A (p.Thr1733=)
c.4323G>A (p.Thr1441=)
c.3672G>A (p.Thr1224=)
c.3276G>A (p.Thr1092=)
c.3018G>A (p.Thr1006=)
c.4296G>A (p.Thr1432=)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
10g.75030185G>CCA470300838DUSP29,KAT6Bc.5361G>C (p.Thr1787=)
c.4812G>C (p.Thr1604=)
c.4485G>C (p.Thr1495=)
n.577-3591C>G
c.*3622-3591C>G (n.*3622-3591C>G)
c.5199G>C (p.Thr1733=)
c.4323G>C (p.Thr1441=)
c.3672G>C (p.Thr1224=)
c.3276G>C (p.Thr1092=)
c.3018G>C (p.Thr1006=)
c.4296G>C (p.Thr1432=)
10g.75030185G=CA1920306982DUSP29,KAT6Bc.5361G= (p.Thr1787=)
c.4812G= (p.Thr1604=)
c.4485G= (p.Thr1495=)
n.577-3591C=
c.*3622-3591C= (n.*3622-3591C=)
c.5199G= (p.Thr1733=)
c.4323G= (p.Thr1441=)
c.3672G= (p.Thr1224=)
c.3276G= (p.Thr1092=)
c.3018G= (p.Thr1006=)
c.4296G= (p.Thr1432=)
10g.75030185G>TCA470300839DUSP29,KAT6Bc.5361G>T (p.Thr1787=)
c.4812G>T (p.Thr1604=)
c.4485G>T (p.Thr1495=)
n.577-3591C>A
c.*3622-3591C>A (n.*3622-3591C>A)
c.5199G>T (p.Thr1733=)
c.4323G>T (p.Thr1441=)
c.3672G>T (p.Thr1224=)
c.3276G>T (p.Thr1092=)
c.3018G>T (p.Thr1006=)
c.4296G>T (p.Thr1432=)
10g.75030186A>CCA377300992DUSP29,KAT6Bc.5362A>C (p.Ser1788Arg)
c.4813A>C (p.Ser1605Arg)
c.4486A>C (p.Ser1496Arg)
n.577-3592T>G
c.*3622-3592T>G (n.*3622-3592T>G)
c.5200A>C (p.Ser1734Arg)
c.4324A>C (p.Ser1442Arg)
c.3673A>C (p.Ser1225Arg)
c.3277A>C (p.Ser1093Arg)
c.3019A>C (p.Ser1007Arg)
c.4297A>C (p.Ser1433Arg)
10g.75030186A>GCA377300993DUSP29,KAT6Bc.5362A>G (p.Ser1788Gly)
c.4813A>G (p.Ser1605Gly)
c.4486A>G (p.Ser1496Gly)
n.577-3592T>C
c.*3622-3592T>C (n.*3622-3592T>C)
c.5200A>G (p.Ser1734Gly)
c.4324A>G (p.Ser1442Gly)
c.3673A>G (p.Ser1225Gly)
c.3277A>G (p.Ser1093Gly)
c.3019A>G (p.Ser1007Gly)
c.4297A>G (p.Ser1433Gly)
10g.75030186A>TCA377300994DUSP29,KAT6Bc.5362A>T (p.Ser1788Cys)
c.4813A>T (p.Ser1605Cys)
c.4486A>T (p.Ser1496Cys)
n.577-3592T>A
c.*3622-3592T>A (n.*3622-3592T>A)
c.5200A>T (p.Ser1734Cys)
c.4324A>T (p.Ser1442Cys)
c.3673A>T (p.Ser1225Cys)
c.3277A>T (p.Ser1093Cys)
c.3019A>T (p.Ser1007Cys)
c.4297A>T (p.Ser1433Cys)
10g.75030187G>ACA377300995DUSP29,KAT6Bc.5363G>A (p.Ser1788Asn)
c.4814G>A (p.Ser1605Asn)
c.4487G>A (p.Ser1496Asn)
n.577-3593C>T
c.*3622-3593C>T (n.*3622-3593C>T)
c.5201G>A (p.Ser1734Asn)
c.4325G>A (p.Ser1442Asn)
c.3674G>A (p.Ser1225Asn)
c.3278G>A (p.Ser1093Asn)
c.3020G>A (p.Ser1007Asn)
c.4298G>A (p.Ser1433Asn)
10g.75030187G>CCA377300996DUSP29,KAT6Bc.5363G>C (p.Ser1788Thr)
c.4814G>C (p.Ser1605Thr)
c.4487G>C (p.Ser1496Thr)
n.577-3593C>G
c.*3622-3593C>G (n.*3622-3593C>G)
c.5201G>C (p.Ser1734Thr)
c.4325G>C (p.Ser1442Thr)
c.3674G>C (p.Ser1225Thr)
c.3278G>C (p.Ser1093Thr)
c.3020G>C (p.Ser1007Thr)
c.4298G>C (p.Ser1433Thr)
10g.75030187G>TCA377300997DUSP29,KAT6Bc.5363G>T (p.Ser1788Ile)
c.4814G>T (p.Ser1605Ile)
c.4487G>T (p.Ser1496Ile)
n.577-3593C>A
c.*3622-3593C>A (n.*3622-3593C>A)
c.5201G>T (p.Ser1734Ile)
c.4325G>T (p.Ser1442Ile)
c.3674G>T (p.Ser1225Ile)
c.3278G>T (p.Ser1093Ile)
c.3020G>T (p.Ser1007Ile)
c.4298G>T (p.Ser1433Ile)
10g.75030188C>ACA5565186DUSP29,KAT6Bc.5364C>A (p.Ser1788Arg)
c.4815C>A (p.Ser1605Arg)
c.4488C>A (p.Ser1496Arg)
n.577-3594G>T
c.*3622-3594G>T (n.*3622-3594G>T)
c.5202C>A (p.Ser1734Arg)
c.4326C>A (p.Ser1442Arg)
c.3675C>A (p.Ser1225Arg)
c.3279C>A (p.Ser1093Arg)
c.3021C>A (p.Ser1007Arg)
c.4299C>A (p.Ser1433Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.75030188C=CA1920306983DUSP29,KAT6Bc.5364C= (p.Ser1788=)
c.4815C= (p.Ser1605=)
c.4488C= (p.Ser1496=)
n.577-3594G=
c.*3622-3594G= (n.*3622-3594G=)
c.5202C= (p.Ser1734=)
c.4326C= (p.Ser1442=)
c.3675C= (p.Ser1225=)
c.3279C= (p.Ser1093=)
c.3021C= (p.Ser1007=)
c.4299C= (p.Ser1433=)
10g.75030188C>GCA377300998DUSP29,KAT6Bc.5364C>G (p.Ser1788Arg)
c.4815C>G (p.Ser1605Arg)
c.4488C>G (p.Ser1496Arg)
n.577-3594G>C
c.*3622-3594G>C (n.*3622-3594G>C)
c.5202C>G (p.Ser1734Arg)
c.4326C>G (p.Ser1442Arg)
c.3675C>G (p.Ser1225Arg)
c.3279C>G (p.Ser1093Arg)
c.3021C>G (p.Ser1007Arg)
c.4299C>G (p.Ser1433Arg)
10g.75030188C>TCA470300840DUSP29,KAT6Bc.5364C>T (p.Ser1788=)
c.4815C>T (p.Ser1605=)
c.4488C>T (p.Ser1496=)
n.577-3594G>A
c.*3622-3594G>A (n.*3622-3594G>A)
c.5202C>T (p.Ser1734=)
c.4326C>T (p.Ser1442=)
c.3675C>T (p.Ser1225=)
c.3279C>T (p.Ser1093=)
c.3021C>T (p.Ser1007=)
c.4299C>T (p.Ser1433=)
10g.75030189A>CCA377300999DUSP29,KAT6Bc.5365A>C (p.Asn1789His)
c.4816A>C (p.Asn1606His)
c.4489A>C (p.Asn1497His)
n.577-3595T>G
c.*3622-3595T>G (n.*3622-3595T>G)
c.5203A>C (p.Asn1735His)
c.4327A>C (p.Asn1443His)
c.3676A>C (p.Asn1226His)
c.3280A>C (p.Asn1094His)
c.3022A>C (p.Asn1008His)
c.4300A>C (p.Asn1434His)
10g.75030189A>GCA377301000DUSP29,KAT6Bc.5365A>G (p.Asn1789Asp)
c.4816A>G (p.Asn1606Asp)
c.4489A>G (p.Asn1497Asp)
n.577-3595T>C
c.*3622-3595T>C (n.*3622-3595T>C)
c.5203A>G (p.Asn1735Asp)
c.4327A>G (p.Asn1443Asp)
c.3676A>G (p.Asn1226Asp)
c.3280A>G (p.Asn1094Asp)
c.3022A>G (p.Asn1008Asp)
c.4300A>G (p.Asn1434Asp)
10g.75030189A>TCA377301001DUSP29,KAT6Bc.5365A>T (p.Asn1789Tyr)
c.4816A>T (p.Asn1606Tyr)
c.4489A>T (p.Asn1497Tyr)
n.577-3595T>A
c.*3622-3595T>A (n.*3622-3595T>A)
c.5203A>T (p.Asn1735Tyr)
c.4327A>T (p.Asn1443Tyr)
c.3676A>T (p.Asn1226Tyr)
c.3280A>T (p.Asn1094Tyr)
c.3022A>T (p.Asn1008Tyr)
c.4300A>T (p.Asn1434Tyr)
10g.75030190A>CCA377301002DUSP29,KAT6Bc.5366A>C (p.Asn1789Thr)
c.4817A>C (p.Asn1606Thr)
c.4490A>C (p.Asn1497Thr)
n.577-3596T>G
c.*3622-3596T>G (n.*3622-3596T>G)
c.5204A>C (p.Asn1735Thr)
c.4328A>C (p.Asn1443Thr)
c.3677A>C (p.Asn1226Thr)
c.3281A>C (p.Asn1094Thr)
c.3023A>C (p.Asn1008Thr)
c.4301A>C (p.Asn1434Thr)
10g.75030190A>GCA377301003DUSP29,KAT6Bc.5366A>G (p.Asn1789Ser)
c.4817A>G (p.Asn1606Ser)
c.4490A>G (p.Asn1497Ser)
n.577-3596T>C
c.*3622-3596T>C (n.*3622-3596T>C)
c.5204A>G (p.Asn1735Ser)
c.4328A>G (p.Asn1443Ser)
c.3677A>G (p.Asn1226Ser)
c.3281A>G (p.Asn1094Ser)
c.3023A>G (p.Asn1008Ser)
c.4301A>G (p.Asn1434Ser)
10g.75030190A>TCA377301004DUSP29,KAT6Bc.5366A>T (p.Asn1789Ile)
c.4817A>T (p.Asn1606Ile)
c.4490A>T (p.Asn1497Ile)
n.577-3596T>A
c.*3622-3596T>A (n.*3622-3596T>A)
c.5204A>T (p.Asn1735Ile)
c.4328A>T (p.Asn1443Ile)
c.3677A>T (p.Asn1226Ile)
c.3281A>T (p.Asn1094Ile)
c.3023A>T (p.Asn1008Ile)
c.4301A>T (p.Asn1434Ile)
10g.75030191C>ACA377301005DUSP29,KAT6Bc.5367C>A (p.Asn1789Lys)
c.4818C>A (p.Asn1606Lys)
c.4491C>A (p.Asn1497Lys)
n.577-3597G>T
c.*3622-3597G>T (n.*3622-3597G>T)
c.5205C>A (p.Asn1735Lys)
c.4329C>A (p.Asn1443Lys)
c.3678C>A (p.Asn1226Lys)
c.3282C>A (p.Asn1094Lys)
c.3024C>A (p.Asn1008Lys)
c.4302C>A (p.Asn1434Lys)
 dbSNP gnomAD v4
10g.75030191C=CA1920306984DUSP29,KAT6Bc.5367C= (p.Asn1789=)
c.4818C= (p.Asn1606=)
c.4491C= (p.Asn1497=)
n.577-3597G=
c.*3622-3597G= (n.*3622-3597G=)
c.5205C= (p.Asn1735=)
c.4329C= (p.Asn1443=)
c.3678C= (p.Asn1226=)
c.3282C= (p.Asn1094=)
c.3024C= (p.Asn1008=)
c.4302C= (p.Asn1434=)
10g.75030191C>GCA377301006DUSP29,KAT6Bc.5367C>G (p.Asn1789Lys)
c.4818C>G (p.Asn1606Lys)
c.4491C>G (p.Asn1497Lys)
n.577-3597G>C
c.*3622-3597G>C (n.*3622-3597G>C)
c.5205C>G (p.Asn1735Lys)
c.4329C>G (p.Asn1443Lys)
c.3678C>G (p.Asn1226Lys)
c.3282C>G (p.Asn1094Lys)
c.3024C>G (p.Asn1008Lys)
c.4302C>G (p.Asn1434Lys)
 gnomAD v4
10g.75030191C>TCA470300841DUSP29,KAT6Bc.5367C>T (p.Asn1789=)
c.4818C>T (p.Asn1606=)
c.4491C>T (p.Asn1497=)
n.577-3597G>A
c.*3622-3597G>A (n.*3622-3597G>A)
c.5205C>T (p.Asn1735=)
c.4329C>T (p.Asn1443=)
c.3678C>T (p.Asn1226=)
c.3282C>T (p.Asn1094=)
c.3024C>T (p.Asn1008=)
c.4302C>T (p.Asn1434=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
10g.75030192G>ACA5565187DUSP29,KAT6Bc.5368G>A (p.Ala1790Thr)
c.4819G>A (p.Ala1607Thr)
c.4492G>A (p.Ala1498Thr)
n.577-3598C>T
c.*3622-3598C>T (n.*3622-3598C>T)
c.5206G>A (p.Ala1736Thr)
c.4330G>A (p.Ala1444Thr)
c.3679G>A (p.Ala1227Thr)
c.3283G>A (p.Ala1095Thr)
c.3025G>A (p.Ala1009Thr)
c.4303G>A (p.Ala1435Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.75030192G>CCA377301007DUSP29,KAT6Bc.5368G>C (p.Ala1790Pro)
c.4819G>C (p.Ala1607Pro)
c.4492G>C (p.Ala1498Pro)
n.577-3598C>G
c.*3622-3598C>G (n.*3622-3598C>G)
c.5206G>C (p.Ala1736Pro)
c.4330G>C (p.Ala1444Pro)
c.3679G>C (p.Ala1227Pro)
c.3283G>C (p.Ala1095Pro)
c.3025G>C (p.Ala1009Pro)
c.4303G>C (p.Ala1435Pro)
10g.75030192G=CA1920306985DUSP29,KAT6Bc.5368G= (p.Ala1790=)
c.4819G= (p.Ala1607=)
c.4492G= (p.Ala1498=)
n.577-3598C=
c.*3622-3598C= (n.*3622-3598C=)
c.5206G= (p.Ala1736=)
c.4330G= (p.Ala1444=)
c.3679G= (p.Ala1227=)
c.3283G= (p.Ala1095=)
c.3025G= (p.Ala1009=)
c.4303G= (p.Ala1435=)
10g.75030192G>TCA377301008DUSP29,KAT6Bc.5368G>T (p.Ala1790Ser)
c.4819G>T (p.Ala1607Ser)
c.4492G>T (p.Ala1498Ser)
n.577-3598C>A
c.*3622-3598C>A (n.*3622-3598C>A)
c.5206G>T (p.Ala1736Ser)
c.4330G>T (p.Ala1444Ser)
c.3679G>T (p.Ala1227Ser)
c.3283G>T (p.Ala1095Ser)
c.3025G>T (p.Ala1009Ser)
c.4303G>T (p.Ala1435Ser)
10g.75030193C>ACA377301010DUSP29,KAT6Bc.5369C>A (p.Ala1790Asp)
c.4820C>A (p.Ala1607Asp)
c.4493C>A (p.Ala1498Asp)
n.577-3599G>T
c.*3622-3599G>T (n.*3622-3599G>T)
c.5207C>A (p.Ala1736Asp)
c.4331C>A (p.Ala1444Asp)
c.3680C>A (p.Ala1227Asp)
c.3284C>A (p.Ala1095Asp)
c.3026C>A (p.Ala1009Asp)
c.4304C>A (p.Ala1435Asp)
10g.75030193C>GCA377301009DUSP29,KAT6Bc.5369C>G (p.Ala1790Gly)
c.4820C>G (p.Ala1607Gly)
c.4493C>G (p.Ala1498Gly)
n.577-3599G>C
c.*3622-3599G>C (n.*3622-3599G>C)
c.5207C>G (p.Ala1736Gly)
c.4331C>G (p.Ala1444Gly)
c.3680C>G (p.Ala1227Gly)
c.3284C>G (p.Ala1095Gly)
c.3026C>G (p.Ala1009Gly)
c.4304C>G (p.Ala1435Gly)
10g.75030193C>TCA377301011DUSP29,KAT6Bc.5369C>T (p.Ala1790Val)
c.4820C>T (p.Ala1607Val)
c.4493C>T (p.Ala1498Val)
n.577-3599G>A
c.*3622-3599G>A (n.*3622-3599G>A)
c.5207C>T (p.Ala1736Val)
c.4331C>T (p.Ala1444Val)
c.3680C>T (p.Ala1227Val)
c.3284C>T (p.Ala1095Val)
c.3026C>T (p.Ala1009Val)
c.4304C>T (p.Ala1435Val)
 COSMIC
10g.75030194_75030197dupCA213030DUSP29,KAT6Bc.5370_5373dup (p.Ile1792GlnfsTer12)
c.4821_4824dup (p.Ile1609GlnfsTer12)
c.4494_4497dup (p.Ile1500GlnfsTer12)
n.577-3602_577-3599dup
c.*3622-3602_*3622-3599dup (n.*3622-3602_*3622-3599dup)
c.5208_5211dup (p.Ile1738GlnfsTer12)
c.4332_4335dup (p.Ile1446GlnfsTer12)
c.3681_3684dup (p.Ile1229GlnfsTer12)
c.3285_3288dup (p.Ile1097GlnfsTer12)
c.3027_3030dup (p.Ile1011GlnfsTer12)
c.4305_4308dup (p.Ile1437GlnfsTer12)
 ClinVar dbSNP
10g.75030194C>ACA470300844DUSP29,KAT6Bc.5370C>A (p.Ala1790=)
c.4821C>A (p.Ala1607=)
c.4494C>A (p.Ala1498=)
n.577-3600G>T
c.*3622-3600G>T (n.*3622-3600G>T)
c.5208C>A (p.Ala1736=)
c.4332C>A (p.Ala1444=)
c.3681C>A (p.Ala1227=)
c.3285C>A (p.Ala1095=)
c.3027C>A (p.Ala1009=)
c.4305C>A (p.Ala1435=)
10g.75030194C>GCA470300842DUSP29,KAT6Bc.5370C>G (p.Ala1790=)
c.4821C>G (p.Ala1607=)
c.4494C>G (p.Ala1498=)
n.577-3600G>C
c.*3622-3600G>C (n.*3622-3600G>C)
c.5208C>G (p.Ala1736=)
c.4332C>G (p.Ala1444=)
c.3681C>G (p.Ala1227=)
c.3285C>G (p.Ala1095=)
c.3027C>G (p.Ala1009=)
c.4305C>G (p.Ala1435=)
10g.75030194C>TCA470300843DUSP29,KAT6Bc.5370C>T (p.Ala1790=)
c.4821C>T (p.Ala1607=)
c.4494C>T (p.Ala1498=)
n.577-3600G>A
c.*3622-3600G>A (n.*3622-3600G>A)
c.5208C>T (p.Ala1736=)
c.4332C>T (p.Ala1444=)
c.3681C>T (p.Ala1227=)
c.3285C>T (p.Ala1095=)
c.3027C>T (p.Ala1009=)
c.4305C>T (p.Ala1435=)
10g.75030195A=CA1920306986DUSP29,KAT6Bc.5371A= (p.Asn1791=)
c.4822A= (p.Asn1608=)
c.4495A= (p.Asn1499=)
n.577-3601T=
c.*3622-3601T= (n.*3622-3601T=)
c.5209A= (p.Asn1737=)
c.4333A= (p.Asn1445=)
c.3682A= (p.Asn1228=)
c.3286A= (p.Asn1096=)
c.3028A= (p.Asn1010=)
c.4306A= (p.Asn1436=)
10g.75030195A>CCA209710575DUSP29,KAT6Bc.5371A>C (p.Asn1791His)
c.4822A>C (p.Asn1608His)
c.4495A>C (p.Asn1499His)
n.577-3601T>G
c.*3622-3601T>G (n.*3622-3601T>G)
c.5209A>C (p.Asn1737His)
c.4333A>C (p.Asn1445His)
c.3682A>C (p.Asn1228His)
c.3286A>C (p.Asn1096His)
c.3028A>C (p.Asn1010His)
c.4306A>C (p.Asn1436His)
 dbSNP
10g.75030195A>GCA377301012DUSP29,KAT6Bc.5371A>G (p.Asn1791Asp)
c.4822A>G (p.Asn1608Asp)
c.4495A>G (p.Asn1499Asp)
n.577-3601T>C
c.*3622-3601T>C (n.*3622-3601T>C)
c.5209A>G (p.Asn1737Asp)
c.4333A>G (p.Asn1445Asp)
c.3682A>G (p.Asn1228Asp)
c.3286A>G (p.Asn1096Asp)
c.3028A>G (p.Asn1010Asp)
c.4306A>G (p.Asn1436Asp)
 ClinVar dbSNP gnomAD v2 gnomAD v4
10g.75030195A>TCA377301013DUSP29,KAT6Bc.5371A>T (p.Asn1791Tyr)
c.4822A>T (p.Asn1608Tyr)
c.4495A>T (p.Asn1499Tyr)
n.577-3601T>A
c.*3622-3601T>A (n.*3622-3601T>A)
c.5209A>T (p.Asn1737Tyr)
c.4333A>T (p.Asn1445Tyr)
c.3682A>T (p.Asn1228Tyr)
c.3286A>T (p.Asn1096Tyr)
c.3028A>T (p.Asn1010Tyr)
c.4306A>T (p.Asn1436Tyr)
10g.75030196A=CA1920306987DUSP29,KAT6Bc.5372A= (p.Asn1791=)
c.4823A= (p.Asn1608=)
c.4496A= (p.Asn1499=)
n.577-3602T=
c.*3622-3602T= (n.*3622-3602T=)
c.5210A= (p.Asn1737=)
c.4334A= (p.Asn1445=)
c.3683A= (p.Asn1228=)
c.3287A= (p.Asn1096=)
c.3029A= (p.Asn1010=)
c.4307A= (p.Asn1436=)
10g.75030196A>CCA377301014DUSP29,KAT6Bc.5372A>C (p.Asn1791Thr)
c.4823A>C (p.Asn1608Thr)
c.4496A>C (p.Asn1499Thr)
n.577-3602T>G
c.*3622-3602T>G (n.*3622-3602T>G)
c.5210A>C (p.Asn1737Thr)
c.4334A>C (p.Asn1445Thr)
c.3683A>C (p.Asn1228Thr)
c.3287A>C (p.Asn1096Thr)
c.3029A>C (p.Asn1010Thr)
c.4307A>C (p.Asn1436Thr)
10g.75030196A>GCA5565188DUSP29,KAT6Bc.5372A>G (p.Asn1791Ser)
c.4823A>G (p.Asn1608Ser)
c.4496A>G (p.Asn1499Ser)
n.577-3602T>C
c.*3622-3602T>C (n.*3622-3602T>C)
c.5210A>G (p.Asn1737Ser)
c.4334A>G (p.Asn1445Ser)
c.3683A>G (p.Asn1228Ser)
c.3287A>G (p.Asn1096Ser)
c.3029A>G (p.Asn1010Ser)
c.4307A>G (p.Asn1436Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.75030196A>TCA377301015DUSP29,KAT6Bc.5372A>T (p.Asn1791Ile)
c.4823A>T (p.Asn1608Ile)
c.4496A>T (p.Asn1499Ile)
n.577-3602T>A
c.*3622-3602T>A (n.*3622-3602T>A)
c.5210A>T (p.Asn1737Ile)
c.4334A>T (p.Asn1445Ile)
c.3683A>T (p.Asn1228Ile)
c.3287A>T (p.Asn1096Ile)
c.3029A>T (p.Asn1010Ile)
c.4307A>T (p.Asn1436Ile)
10g.75030197C>ACA377301016DUSP29,KAT6Bc.5373C>A (p.Asn1791Lys)
c.4824C>A (p.Asn1608Lys)
c.4497C>A (p.Asn1499Lys)
n.577-3603G>T
c.*3622-3603G>T (n.*3622-3603G>T)
c.5211C>A (p.Asn1737Lys)
c.4335C>A (p.Asn1445Lys)
c.3684C>A (p.Asn1228Lys)
c.3288C>A (p.Asn1096Lys)
c.3030C>A (p.Asn1010Lys)
c.4308C>A (p.Asn1436Lys)
10g.75030197C>GCA377301017DUSP29,KAT6Bc.5373C>G (p.Asn1791Lys)
c.4824C>G (p.Asn1608Lys)
c.4497C>G (p.Asn1499Lys)
n.577-3603G>C
c.*3622-3603G>C (n.*3622-3603G>C)
c.5211C>G (p.Asn1737Lys)
c.4335C>G (p.Asn1445Lys)
c.3684C>G (p.Asn1228Lys)
c.3288C>G (p.Asn1096Lys)
c.3030C>G (p.Asn1010Lys)
c.4308C>G (p.Asn1436Lys)
10g.75030197C>TCA470300845DUSP29,KAT6Bc.5373C>T (p.Asn1791=)
c.4824C>T (p.Asn1608=)
c.4497C>T (p.Asn1499=)
n.577-3603G>A
c.*3622-3603G>A (n.*3622-3603G>A)
c.5211C>T (p.Asn1737=)
c.4335C>T (p.Asn1445=)
c.3684C>T (p.Asn1228=)
c.3288C>T (p.Asn1096=)
c.3030C>T (p.Asn1010=)
c.4308C>T (p.Asn1436=)
10g.75030198A=CA1920306988DUSP29,KAT6Bc.5374A= (p.Ile1792=)
c.4825A= (p.Ile1609=)
c.4498A= (p.Ile1500=)
n.577-3604T=
c.*3622-3604T= (n.*3622-3604T=)
c.5212A= (p.Ile1738=)
c.4336A= (p.Ile1446=)
c.3685A= (p.Ile1229=)
c.3289A= (p.Ile1097=)
c.3031A= (p.Ile1011=)
c.4309A= (p.Ile1437=)
10g.75030198A>CCA377301018DUSP29,KAT6Bc.5374A>C (p.Ile1792Leu)
c.4825A>C (p.Ile1609Leu)
c.4498A>C (p.Ile1500Leu)
n.577-3604T>G
c.*3622-3604T>G (n.*3622-3604T>G)
c.5212A>C (p.Ile1738Leu)
c.4336A>C (p.Ile1446Leu)
c.3685A>C (p.Ile1229Leu)
c.3289A>C (p.Ile1097Leu)
c.3031A>C (p.Ile1011Leu)
c.4309A>C (p.Ile1437Leu)
10g.75030198A>GCA377301019DUSP29,KAT6Bc.5374A>G (p.Ile1792Val)
c.4825A>G (p.Ile1609Val)
c.4498A>G (p.Ile1500Val)
n.577-3604T>C
c.*3622-3604T>C (n.*3622-3604T>C)
c.5212A>G (p.Ile1738Val)
c.4336A>G (p.Ile1446Val)
c.3685A>G (p.Ile1229Val)
c.3289A>G (p.Ile1097Val)
c.3031A>G (p.Ile1011Val)
c.4309A>G (p.Ile1437Val)
10g.75030198A>TCA377301020DUSP29,KAT6Bc.5374A>T (p.Ile1792Phe)
c.4825A>T (p.Ile1609Phe)
c.4498A>T (p.Ile1500Phe)
n.577-3604T>A
c.*3622-3604T>A (n.*3622-3604T>A)
c.5212A>T (p.Ile1738Phe)
c.4336A>T (p.Ile1446Phe)
c.3685A>T (p.Ile1229Phe)
c.3289A>T (p.Ile1097Phe)
c.3031A>T (p.Ile1011Phe)
c.4309A>T (p.Ile1437Phe)
 dbSNP
10g.75030199T>ACA377301023DUSP29,KAT6Bc.5375T>A (p.Ile1792Asn)
c.4826T>A (p.Ile1609Asn)
c.4499T>A (p.Ile1500Asn)
n.577-3605A>T
c.*3622-3605A>T (n.*3622-3605A>T)
c.5213T>A (p.Ile1738Asn)
c.4337T>A (p.Ile1446Asn)
c.3686T>A (p.Ile1229Asn)
c.3290T>A (p.Ile1097Asn)
c.3032T>A (p.Ile1011Asn)
c.4310T>A (p.Ile1437Asn)
10g.75030199T>CCA377301022DUSP29,KAT6Bc.5375T>C (p.Ile1792Thr)
c.4826T>C (p.Ile1609Thr)
c.4499T>C (p.Ile1500Thr)
n.577-3605A>G
c.*3622-3605A>G (n.*3622-3605A>G)
c.5213T>C (p.Ile1738Thr)
c.4337T>C (p.Ile1446Thr)
c.3686T>C (p.Ile1229Thr)
c.3290T>C (p.Ile1097Thr)
c.3032T>C (p.Ile1011Thr)
c.4310T>C (p.Ile1437Thr)
 gnomAD v4
10g.75030199T>GCA377301021DUSP29,KAT6Bc.5375T>G (p.Ile1792Ser)
c.4826T>G (p.Ile1609Ser)
c.4499T>G (p.Ile1500Ser)
n.577-3605A>C
c.*3622-3605A>C (n.*3622-3605A>C)
c.5213T>G (p.Ile1738Ser)
c.4337T>G (p.Ile1446Ser)
c.3686T>G (p.Ile1229Ser)
c.3290T>G (p.Ile1097Ser)
c.3032T>G (p.Ile1011Ser)
c.4310T>G (p.Ile1437Ser)
10g.75030200T>ACA470300846DUSP29,KAT6Bc.5376T>A (p.Ile1792=)
c.4827T>A (p.Ile1609=)
c.4500T>A (p.Ile1500=)
n.577-3606A>T
c.*3622-3606A>T (n.*3622-3606A>T)
c.5214T>A (p.Ile1738=)
c.4338T>A (p.Ile1446=)
c.3687T>A (p.Ile1229=)
c.3291T>A (p.Ile1097=)
c.3033T>A (p.Ile1011=)
c.4311T>A (p.Ile1437=)
10g.75030200T>CCA470300847DUSP29,KAT6Bc.5376T>C (p.Ile1792=)
c.4827T>C (p.Ile1609=)
c.4500T>C (p.Ile1500=)
n.577-3606A>G
c.*3622-3606A>G (n.*3622-3606A>G)
c.5214T>C (p.Ile1738=)
c.4338T>C (p.Ile1446=)
c.3687T>C (p.Ile1229=)
c.3291T>C (p.Ile1097=)
c.3033T>C (p.Ile1011=)
c.4311T>C (p.Ile1437=)
10g.75030200T>GCA377301024DUSP29,KAT6Bc.5376T>G (p.Ile1792Met)
c.4827T>G (p.Ile1609Met)
c.4500T>G (p.Ile1500Met)
n.577-3606A>C
c.*3622-3606A>C (n.*3622-3606A>C)
c.5214T>G (p.Ile1738Met)
c.4338T>G (p.Ile1446Met)
c.3687T>G (p.Ile1229Met)
c.3291T>G (p.Ile1097Met)
c.3033T>G (p.Ile1011Met)
c.4311T>G (p.Ile1437Met)
10g.75030201G>ACA377301025DUSP29,KAT6Bc.5377G>A (p.Gly1793Ser)
c.4828G>A (p.Gly1610Ser)
c.4501G>A (p.Gly1501Ser)
n.577-3607C>T
c.*3622-3607C>T (n.*3622-3607C>T)
c.5215G>A (p.Gly1739Ser)
c.4339G>A (p.Gly1447Ser)
c.3688G>A (p.Gly1230Ser)
c.3292G>A (p.Gly1098Ser)
c.3034G>A (p.Gly1012Ser)
c.4312G>A (p.Gly1438Ser)
10g.75030201G>CCA377301026DUSP29,KAT6Bc.5377G>C (p.Gly1793Arg)
c.4828G>C (p.Gly1610Arg)
c.4501G>C (p.Gly1501Arg)
n.577-3607C>G
c.*3622-3607C>G (n.*3622-3607C>G)
c.5215G>C (p.Gly1739Arg)
c.4339G>C (p.Gly1447Arg)
c.3688G>C (p.Gly1230Arg)
c.3292G>C (p.Gly1098Arg)
c.3034G>C (p.Gly1012Arg)
c.4312G>C (p.Gly1438Arg)
10g.75030201G>TCA377301027DUSP29,KAT6Bc.5377G>T (p.Gly1793Cys)
c.4828G>T (p.Gly1610Cys)
c.4501G>T (p.Gly1501Cys)
n.577-3607C>A
c.*3622-3607C>A (n.*3622-3607C>A)
c.5215G>T (p.Gly1739Cys)
c.4339G>T (p.Gly1447Cys)
c.3688G>T (p.Gly1230Cys)
c.3292G>T (p.Gly1098Cys)
c.3034G>T (p.Gly1012Cys)
c.4312G>T (p.Gly1438Cys)
10g.75030202G>ACA377301028DUSP29,KAT6Bc.5378G>A (p.Gly1793Asp)
c.4829G>A (p.Gly1610Asp)
c.4502G>A (p.Gly1501Asp)
n.577-3608C>T
c.*3622-3608C>T (n.*3622-3608C>T)
c.5216G>A (p.Gly1739Asp)
c.4340G>A (p.Gly1447Asp)
c.3689G>A (p.Gly1230Asp)
c.3293G>A (p.Gly1098Asp)
c.3035G>A (p.Gly1012Asp)
c.4313G>A (p.Gly1438Asp)
 gnomAD v4
10g.75030202G>CCA377301029DUSP29,KAT6Bc.5378G>C (p.Gly1793Ala)
c.4829G>C (p.Gly1610Ala)
c.4502G>C (p.Gly1501Ala)
n.577-3608C>G
c.*3622-3608C>G (n.*3622-3608C>G)
c.5216G>C (p.Gly1739Ala)
c.4340G>C (p.Gly1447Ala)
c.3689G>C (p.Gly1230Ala)
c.3293G>C (p.Gly1098Ala)
c.3035G>C (p.Gly1012Ala)
c.4313G>C (p.Gly1438Ala)
10g.75030202G>TCA377301030DUSP29,KAT6Bc.5378G>T (p.Gly1793Val)
c.4829G>T (p.Gly1610Val)
c.4502G>T (p.Gly1501Val)
n.577-3608C>A
c.*3622-3608C>A (n.*3622-3608C>A)
c.5216G>T (p.Gly1739Val)
c.4340G>T (p.Gly1447Val)
c.3689G>T (p.Gly1230Val)
c.3293G>T (p.Gly1098Val)
c.3035G>T (p.Gly1012Val)
c.4313G>T (p.Gly1438Val)
10g.75030203C>ACA470300849DUSP29,KAT6Bc.5379C>A (p.Gly1793=)
c.4830C>A (p.Gly1610=)
c.4503C>A (p.Gly1501=)
n.577-3609G>T
c.*3622-3609G>T (n.*3622-3609G>T)
c.5217C>A (p.Gly1739=)
c.4341C>A (p.Gly1447=)
c.3690C>A (p.Gly1230=)
c.3294C>A (p.Gly1098=)
c.3036C>A (p.Gly1012=)
c.4314C>A (p.Gly1438=)
10g.75030203C=CA1920306989DUSP29,KAT6Bc.5379C= (p.Gly1793=)
c.4830C= (p.Gly1610=)
c.4503C= (p.Gly1501=)
n.577-3609G=
c.*3622-3609G= (n.*3622-3609G=)
c.5217C= (p.Gly1739=)
c.4341C= (p.Gly1447=)
c.3690C= (p.Gly1230=)
c.3294C= (p.Gly1098=)
c.3036C= (p.Gly1012=)
c.4314C= (p.Gly1438=)
10g.75030203C>GCA5565189DUSP29,KAT6Bc.5379C>G (p.Gly1793=)
c.4830C>G (p.Gly1610=)
c.4503C>G (p.Gly1501=)
n.577-3609G>C
c.*3622-3609G>C (n.*3622-3609G>C)
c.5217C>G (p.Gly1739=)
c.4341C>G (p.Gly1447=)
c.3690C>G (p.Gly1230=)
c.3294C>G (p.Gly1098=)
c.3036C>G (p.Gly1012=)
c.4314C>G (p.Gly1438=)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.75030203C>TCA470300848DUSP29,KAT6Bc.5379C>T (p.Gly1793=)
c.4830C>T (p.Gly1610=)
c.4503C>T (p.Gly1501=)
n.577-3609G>A
c.*3622-3609G>A (n.*3622-3609G>A)
c.5217C>T (p.Gly1739=)
c.4341C>T (p.Gly1447=)
c.3690C>T (p.Gly1230=)
c.3294C>T (p.Gly1098=)
c.3036C>T (p.Gly1012=)
c.4314C>T (p.Gly1438=)
 gnomAD v4
10g.75030204T>ACA377301031DUSP29,KAT6Bc.5380T>A (p.Leu1794Ile)
c.4831T>A (p.Leu1611Ile)
c.4504T>A (p.Leu1502Ile)
n.577-3610A>T
c.*3622-3610A>T (n.*3622-3610A>T)
c.5218T>A (p.Leu1740Ile)
c.4342T>A (p.Leu1448Ile)
c.3691T>A (p.Leu1231Ile)
c.3295T>A (p.Leu1099Ile)
c.3037T>A (p.Leu1013Ile)
c.4315T>A (p.Leu1439Ile)
10g.75030204T>CCA470300850DUSP29,KAT6Bc.5380T>C (p.Leu1794=)
c.4831T>C (p.Leu1611=)
c.4504T>C (p.Leu1502=)
n.577-3610A>G
c.*3622-3610A>G (n.*3622-3610A>G)
c.5218T>C (p.Leu1740=)
c.4342T>C (p.Leu1448=)
c.3691T>C (p.Leu1231=)
c.3295T>C (p.Leu1099=)
c.3037T>C (p.Leu1013=)
c.4315T>C (p.Leu1439=)
 COSMIC
10g.75030204T>GCA377301032DUSP29,KAT6Bc.5380T>G (p.Leu1794Val)
c.4831T>G (p.Leu1611Val)
c.4504T>G (p.Leu1502Val)
n.577-3610A>C
c.*3622-3610A>C (n.*3622-3610A>C)
c.5218T>G (p.Leu1740Val)
c.4342T>G (p.Leu1448Val)
c.3691T>G (p.Leu1231Val)
c.3295T>G (p.Leu1099Val)
c.3037T>G (p.Leu1013Val)
c.4315T>G (p.Leu1439Val)
10g.75030205T>ACA377301033DUSP29,KAT6Bc.5381T>A (p.Leu1794Ter)
c.4832T>A (p.Leu1611Ter)
c.4505T>A (p.Leu1502Ter)
n.577-3611A>T
c.*3622-3611A>T (n.*3622-3611A>T)
c.5219T>A (p.Leu1740Ter)
c.4343T>A (p.Leu1448Ter)
c.3692T>A (p.Leu1231Ter)
c.3296T>A (p.Leu1099Ter)
c.3038T>A (p.Leu1013Ter)
c.4316T>A (p.Leu1439Ter)
10g.75030205T>CCA377301034DUSP29,KAT6Bc.5381T>C (p.Leu1794Ser)
c.4832T>C (p.Leu1611Ser)
c.4505T>C (p.Leu1502Ser)
n.577-3611A>G
c.*3622-3611A>G (n.*3622-3611A>G)
c.5219T>C (p.Leu1740Ser)
c.4343T>C (p.Leu1448Ser)
c.3692T>C (p.Leu1231Ser)
c.3296T>C (p.Leu1099Ser)
c.3038T>C (p.Leu1013Ser)
c.4316T>C (p.Leu1439Ser)
 ClinVar
10g.75030205T>GCA377301035DUSP29,KAT6Bc.5381T>G (p.Leu1794Ter)
c.4832T>G (p.Leu1611Ter)
c.4505T>G (p.Leu1502Ter)
n.577-3611A>C
c.*3622-3611A>C (n.*3622-3611A>C)
c.5219T>G (p.Leu1740Ter)
c.4343T>G (p.Leu1448Ter)
c.3692T>G (p.Leu1231Ter)
c.3296T>G (p.Leu1099Ter)
c.3038T>G (p.Leu1013Ter)
c.4316T>G (p.Leu1439Ter)
10g.75030206A>CCA377301036DUSP29,KAT6Bc.5382A>C (p.Leu1794Phe)
c.4833A>C (p.Leu1611Phe)
c.4506A>C (p.Leu1502Phe)
n.577-3612T>G
c.*3622-3612T>G (n.*3622-3612T>G)
c.5220A>C (p.Leu1740Phe)
c.4344A>C (p.Leu1448Phe)
c.3693A>C (p.Leu1231Phe)
c.3297A>C (p.Leu1099Phe)
c.3039A>C (p.Leu1013Phe)
c.4317A>C (p.Leu1439Phe)
10g.75030206A>GCA470300851DUSP29,KAT6Bc.5382A>G (p.Leu1794=)
c.4833A>G (p.Leu1611=)
c.4506A>G (p.Leu1502=)
n.577-3612T>C
c.*3622-3612T>C (n.*3622-3612T>C)
c.5220A>G (p.Leu1740=)
c.4344A>G (p.Leu1448=)
c.3693A>G (p.Leu1231=)
c.3297A>G (p.Leu1099=)
c.3039A>G (p.Leu1013=)
c.4317A>G (p.Leu1439=)
 gnomAD v4
10g.75030206A>TCA377301037DUSP29,KAT6Bc.5382A>T (p.Leu1794Phe)
c.4833A>T (p.Leu1611Phe)
c.4506A>T (p.Leu1502Phe)
n.577-3612T>A
c.*3622-3612T>A (n.*3622-3612T>A)
c.5220A>T (p.Leu1740Phe)
c.4344A>T (p.Leu1448Phe)
c.3693A>T (p.Leu1231Phe)
c.3297A>T (p.Leu1099Phe)
c.3039A>T (p.Leu1013Phe)
c.4317A>T (p.Leu1439Phe)
10g.75030207T>ACA377301038DUSP29,KAT6Bc.5383T>A (p.Tyr1795Asn)
c.4834T>A (p.Tyr1612Asn)
c.4507T>A (p.Tyr1503Asn)
n.577-3613A>T
c.*3622-3613A>T (n.*3622-3613A>T)
c.5221T>A (p.Tyr1741Asn)
c.4345T>A (p.Tyr1449Asn)
c.3694T>A (p.Tyr1232Asn)
c.3298T>A (p.Tyr1100Asn)
c.3040T>A (p.Tyr1014Asn)
c.4318T>A (p.Tyr1440Asn)
10g.75030207T>CCA377301040DUSP29,KAT6Bc.5383T>C (p.Tyr1795His)
c.4834T>C (p.Tyr1612His)
c.4507T>C (p.Tyr1503His)
n.577-3613A>G
c.*3622-3613A>G (n.*3622-3613A>G)
c.5221T>C (p.Tyr1741His)
c.4345T>C (p.Tyr1449His)
c.3694T>C (p.Tyr1232His)
c.3298T>C (p.Tyr1100His)
c.3040T>C (p.Tyr1014His)
c.4318T>C (p.Tyr1440His)
10g.75030207T>GCA377301039DUSP29,KAT6Bc.5383T>G (p.Tyr1795Asp)
c.4834T>G (p.Tyr1612Asp)
c.4507T>G (p.Tyr1503Asp)
n.577-3613A>C
c.*3622-3613A>C (n.*3622-3613A>C)
c.5221T>G (p.Tyr1741Asp)
c.4345T>G (p.Tyr1449Asp)
c.3694T>G (p.Tyr1232Asp)
c.3298T>G (p.Tyr1100Asp)
c.3040T>G (p.Tyr1014Asp)
c.4318T>G (p.Tyr1440Asp)
10g.75030208A>CCA377301041DUSP29,KAT6Bc.5384A>C (p.Tyr1795Ser)
c.4835A>C (p.Tyr1612Ser)
c.4508A>C (p.Tyr1503Ser)
n.577-3614T>G
c.*3622-3614T>G (n.*3622-3614T>G)
c.5222A>C (p.Tyr1741Ser)
c.4346A>C (p.Tyr1449Ser)
c.3695A>C (p.Tyr1232Ser)
c.3299A>C (p.Tyr1100Ser)
c.3041A>C (p.Tyr1014Ser)
c.4319A>C (p.Tyr1440Ser)
10g.75030208A>GCA377301042DUSP29,KAT6Bc.5384A>G (p.Tyr1795Cys)
c.4835A>G (p.Tyr1612Cys)
c.4508A>G (p.Tyr1503Cys)
n.577-3614T>C
c.*3622-3614T>C (n.*3622-3614T>C)
c.5222A>G (p.Tyr1741Cys)
c.4346A>G (p.Tyr1449Cys)
c.3695A>G (p.Tyr1232Cys)
c.3299A>G (p.Tyr1100Cys)
c.3041A>G (p.Tyr1014Cys)
c.4319A>G (p.Tyr1440Cys)
10g.75030208A>TCA377301043DUSP29,KAT6Bc.5384A>T (p.Tyr1795Phe)
c.4835A>T (p.Tyr1612Phe)
c.4508A>T (p.Tyr1503Phe)
n.577-3614T>A
c.*3622-3614T>A (n.*3622-3614T>A)
c.5222A>T (p.Tyr1741Phe)
c.4346A>T (p.Tyr1449Phe)
c.3695A>T (p.Tyr1232Phe)
c.3299A>T (p.Tyr1100Phe)
c.3041A>T (p.Tyr1014Phe)
c.4319A>T (p.Tyr1440Phe)
10g.75030209C>ACA377301044DUSP29,KAT6Bc.5385C>A (p.Tyr1795Ter)
c.4836C>A (p.Tyr1612Ter)
c.4509C>A (p.Tyr1503Ter)
n.577-3615G>T
c.*3622-3615G>T (n.*3622-3615G>T)
c.5223C>A (p.Tyr1741Ter)
c.4347C>A (p.Tyr1449Ter)
c.3696C>A (p.Tyr1232Ter)
c.3300C>A (p.Tyr1100Ter)
c.3042C>A (p.Tyr1014Ter)
c.4320C>A (p.Tyr1440Ter)
10g.75030209C=CA1920306990DUSP29,KAT6Bc.5385C= (p.Tyr1795=)
c.4836C= (p.Tyr1612=)
c.4509C= (p.Tyr1503=)
n.577-3615G=
c.*3622-3615G= (n.*3622-3615G=)
c.5223C= (p.Tyr1741=)
c.4347C= (p.Tyr1449=)
c.3696C= (p.Tyr1232=)
c.3300C= (p.Tyr1100=)
c.3042C= (p.Tyr1014=)
c.4320C= (p.Tyr1440=)
10g.75030209C>GCA377301045DUSP29,KAT6Bc.5385C>G (p.Tyr1795Ter)
c.4836C>G (p.Tyr1612Ter)
c.4509C>G (p.Tyr1503Ter)
n.577-3615G>C
c.*3622-3615G>C (n.*3622-3615G>C)
c.5223C>G (p.Tyr1741Ter)
c.4347C>G (p.Tyr1449Ter)
c.3696C>G (p.Tyr1232Ter)
c.3300C>G (p.Tyr1100Ter)
c.3042C>G (p.Tyr1014Ter)
c.4320C>G (p.Tyr1440Ter)
10g.75030209C>TCA5565190DUSP29,KAT6Bc.5385C>T (p.Tyr1795=)
c.4836C>T (p.Tyr1612=)
c.4509C>T (p.Tyr1503=)
n.577-3615G>A
c.*3622-3615G>A (n.*3622-3615G>A)
c.5223C>T (p.Tyr1741=)
c.4347C>T (p.Tyr1449=)
c.3696C>T (p.Tyr1232=)
c.3300C>T (p.Tyr1100=)
c.3042C>T (p.Tyr1014=)
c.4320C>T (p.Tyr1440=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.75030210G>ACA5565191DUSP29,KAT6Bc.5386G>A (p.Glu1796Lys)
c.4837G>A (p.Glu1613Lys)
c.4510G>A (p.Glu1504Lys)
n.577-3616C>T
c.*3622-3616C>T (n.*3622-3616C>T)
c.5224G>A (p.Glu1742Lys)
c.4348G>A (p.Glu1450Lys)
c.3697G>A (p.Glu1233Lys)
c.3301G>A (p.Glu1101Lys)
c.3043G>A (p.Glu1015Lys)
c.4321G>A (p.Glu1441Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.75030210G>CCA5565192DUSP29,KAT6Bc.5386G>C (p.Glu1796Gln)
c.4837G>C (p.Glu1613Gln)
c.4510G>C (p.Glu1504Gln)
n.577-3616C>G
c.*3622-3616C>G (n.*3622-3616C>G)
c.5224G>C (p.Glu1742Gln)
c.4348G>C (p.Glu1450Gln)
c.3697G>C (p.Glu1233Gln)
c.3301G>C (p.Glu1101Gln)
c.3043G>C (p.Glu1015Gln)
c.4321G>C (p.Glu1441Gln)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.75030210G=CA1920306991DUSP29,KAT6Bc.5386G= (p.Glu1796=)
c.4837G= (p.Glu1613=)
c.4510G= (p.Glu1504=)
n.577-3616C=
c.*3622-3616C= (n.*3622-3616C=)
c.5224G= (p.Glu1742=)
c.4348G= (p.Glu1450=)
c.3697G= (p.Glu1233=)
c.3301G= (p.Glu1101=)
c.3043G= (p.Glu1015=)
c.4321G= (p.Glu1441=)
10g.75030210G>TCA377301046DUSP29,KAT6Bc.5386G>T (p.Glu1796Ter)
c.4837G>T (p.Glu1613Ter)
c.4510G>T (p.Glu1504Ter)
n.577-3616C>A
c.*3622-3616C>A (n.*3622-3616C>A)
c.5224G>T (p.Glu1742Ter)
c.4348G>T (p.Glu1450Ter)
c.3697G>T (p.Glu1233Ter)
c.3301G>T (p.Glu1101Ter)
c.3043G>T (p.Glu1015Ter)
c.4321G>T (p.Glu1441Ter)
10g.75030211A>CCA377301047DUSP29,KAT6Bc.5387A>C (p.Glu1796Ala)
c.4838A>C (p.Glu1613Ala)
c.4511A>C (p.Glu1504Ala)
n.577-3617T>G
c.*3622-3617T>G (n.*3622-3617T>G)
c.5225A>C (p.Glu1742Ala)
c.4349A>C (p.Glu1450Ala)
c.3698A>C (p.Glu1233Ala)
c.3302A>C (p.Glu1101Ala)
c.3044A>C (p.Glu1015Ala)
c.4322A>C (p.Glu1441Ala)
10g.75030211A>GCA377301048DUSP29,KAT6Bc.5387A>G (p.Glu1796Gly)
c.4838A>G (p.Glu1613Gly)
c.4511A>G (p.Glu1504Gly)
n.577-3617T>C
c.*3622-3617T>C (n.*3622-3617T>C)
c.5225A>G (p.Glu1742Gly)
c.4349A>G (p.Glu1450Gly)
c.3698A>G (p.Glu1233Gly)
c.3302A>G (p.Glu1101Gly)
c.3044A>G (p.Glu1015Gly)
c.4322A>G (p.Glu1441Gly)
10g.75030211A>TCA377301049DUSP29,KAT6Bc.5387A>T (p.Glu1796Val)
c.4838A>T (p.Glu1613Val)
c.4511A>T (p.Glu1504Val)
n.577-3617T>A
c.*3622-3617T>A (n.*3622-3617T>A)
c.5225A>T (p.Glu1742Val)
c.4349A>T (p.Glu1450Val)
c.3698A>T (p.Glu1233Val)
c.3302A>T (p.Glu1101Val)
c.3044A>T (p.Glu1015Val)
c.4322A>T (p.Glu1441Val)
10g.75030211_75030217delinsAGCGAATCA1920306992DUSP29,KAT6Bc.5387_5393delinsAGCGAAT (p.Glu1796=)
c.4838_4844delinsAGCGAAT (p.Glu1613=)
c.4511_4517delinsAGCGAAT (p.Glu1504=)
n.577-3623_577-3617delinsATTCGCT
c.*3622-3623_*3622-3617delinsATTCGCT (n.*3622-3623_*3622-3617delinsATTCGCT)
c.5225_5231delinsAGCGAAT (p.Glu1742=)
c.4349_4355delinsAGCGAAT (p.Glu1450=)
c.3698_3704delinsAGCGAAT (p.Glu1233=)
c.3302_3308delinsAGCGAAT (p.Glu1101=)
c.3044_3050delinsAGCGAAT (p.Glu1015=)
c.4322_4328delinsAGCGAAT (p.Glu1441=)
10g.75030212G>ACA209710595DUSP29,KAT6Bc.5388G>A (p.Glu1796=)
c.4839G>A (p.Glu1613=)
c.4512G>A (p.Glu1504=)
n.577-3618C>T
c.*3622-3618C>T (n.*3622-3618C>T)
c.5226G>A (p.Glu1742=)
c.4350G>A (p.Glu1450=)
c.3699G>A (p.Glu1233=)
c.3303G>A (p.Glu1101=)
c.3045G>A (p.Glu1015=)
c.4323G>A (p.Glu1441=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.75030212G>CCA209710601DUSP29,KAT6Bc.5388G>C (p.Glu1796Asp)
c.4839G>C (p.Glu1613Asp)
c.4512G>C (p.Glu1504Asp)
n.577-3618C>G
c.*3622-3618C>G (n.*3622-3618C>G)
c.5226G>C (p.Glu1742Asp)
c.4350G>C (p.Glu1450Asp)
c.3699G>C (p.Glu1233Asp)
c.3303G>C (p.Glu1101Asp)
c.3045G>C (p.Glu1015Asp)
c.4323G>C (p.Glu1441Asp)
 dbSNP
10g.75030212G=CA1920306993DUSP29,KAT6Bc.5388G= (p.Glu1796=)
c.4839G= (p.Glu1613=)
c.4512G= (p.Glu1504=)
n.577-3618C=
c.*3622-3618C= (n.*3622-3618C=)
c.5226G= (p.Glu1742=)
c.4350G= (p.Glu1450=)
c.3699G= (p.Glu1233=)
c.3303G= (p.Glu1101=)
c.3045G= (p.Glu1015=)
c.4323G= (p.Glu1441=)
10g.75030212G>TCA377301050DUSP29,KAT6Bc.5388G>T (p.Glu1796Asp)
c.4839G>T (p.Glu1613Asp)
c.4512G>T (p.Glu1504Asp)
n.577-3618C>A
c.*3622-3618C>A (n.*3622-3618C>A)
c.5226G>T (p.Glu1742Asp)
c.4350G>T (p.Glu1450Asp)
c.3699G>T (p.Glu1233Asp)
c.3303G>T (p.Glu1101Asp)
c.3045G>T (p.Glu1015Asp)
c.4323G>T (p.Glu1441Asp)
10g.75030213_75030218delCA5565193DUSP29,KAT6Bc.5389_5394del (p.Arg1797_Met1798del)
c.4840_4845del (p.Arg1614_Met1615del)
c.4513_4518del (p.Arg1505_Met1506del)
n.577-3623_577-3618del
c.*3622-3623_*3622-3618del (n.*3622-3623_*3622-3618del)
c.5227_5232del (p.Arg1743_Met1744del)
c.4351_4356del (p.Arg1451_Met1452del)
c.3700_3705del (p.Arg1234_Met1235del)
c.3304_3309del (p.Arg1102_Met1103del)
c.3046_3051del (p.Arg1016_Met1017del)
c.4324_4329del (p.Arg1442_Met1443del)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.75030213C>ACA470300852DUSP29,KAT6Bc.5389C>A (p.Arg1797=)
c.4840C>A (p.Arg1614=)
c.4513C>A (p.Arg1505=)
n.577-3619G>T
c.*3622-3619G>T (n.*3622-3619G>T)
c.5227C>A (p.Arg1743=)
c.4351C>A (p.Arg1451=)
c.3700C>A (p.Arg1234=)
c.3304C>A (p.Arg1102=)
c.3046C>A (p.Arg1016=)
c.4324C>A (p.Arg1442=)
 gnomAD v4
10g.75030213C=CA1920306994DUSP29,KAT6Bc.5389C= (p.Arg1797=)
c.4840C= (p.Arg1614=)
c.4513C= (p.Arg1505=)
n.577-3619G=
c.*3622-3619G= (n.*3622-3619G=)
c.5227C= (p.Arg1743=)
c.4351C= (p.Arg1451=)
c.3700C= (p.Arg1234=)
c.3304C= (p.Arg1102=)
c.3046C= (p.Arg1016=)
c.4324C= (p.Arg1442=)
10g.75030213C>GCA377301051DUSP29,KAT6Bc.5389C>G (p.Arg1797Gly)
c.4840C>G (p.Arg1614Gly)
c.4513C>G (p.Arg1505Gly)
n.577-3619G>C
c.*3622-3619G>C (n.*3622-3619G>C)
c.5227C>G (p.Arg1743Gly)
c.4351C>G (p.Arg1451Gly)
c.3700C>G (p.Arg1234Gly)
c.3304C>G (p.Arg1102Gly)
c.3046C>G (p.Arg1016Gly)
c.4324C>G (p.Arg1442Gly)
10g.75030213C>TCA143738DUSP29,KAT6Bc.5389C>T (p.Arg1797Ter)
c.4840C>T (p.Arg1614Ter)
c.4513C>T (p.Arg1505Ter)
n.577-3619G>A
c.*3622-3619G>A (n.*3622-3619G>A)
c.5227C>T (p.Arg1743Ter)
c.4351C>T (p.Arg1451Ter)
c.3700C>T (p.Arg1234Ter)
c.3304C>T (p.Arg1102Ter)
c.3046C>T (p.Arg1016Ter)
c.4324C>T (p.Arg1442Ter)
 ClinVar dbSNP COSMIC
10g.75030214G>ACA5565194DUSP29,KAT6Bc.5390G>A (p.Arg1797Gln)
c.4841G>A (p.Arg1614Gln)
c.4514G>A (p.Arg1505Gln)
n.577-3620C>T
c.*3622-3620C>T (n.*3622-3620C>T)
c.5228G>A (p.Arg1743Gln)
c.4352G>A (p.Arg1451Gln)
c.3701G>A (p.Arg1234Gln)
c.3305G>A (p.Arg1102Gln)
c.3047G>A (p.Arg1016Gln)
c.4325G>A (p.Arg1442Gln)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.75030214G>CCA377301052DUSP29,KAT6Bc.5390G>C (p.Arg1797Pro)
c.4841G>C (p.Arg1614Pro)
c.4514G>C (p.Arg1505Pro)
n.577-3620C>G
c.*3622-3620C>G (n.*3622-3620C>G)
c.5228G>C (p.Arg1743Pro)
c.4352G>C (p.Arg1451Pro)
c.3701G>C (p.Arg1234Pro)
c.3305G>C (p.Arg1102Pro)
c.3047G>C (p.Arg1016Pro)
c.4325G>C (p.Arg1442Pro)
10g.75030214G=CA1920306995DUSP29,KAT6Bc.5390G= (p.Arg1797=)
c.4841G= (p.Arg1614=)
c.4514G= (p.Arg1505=)
n.577-3620C=
c.*3622-3620C= (n.*3622-3620C=)
c.5228G= (p.Arg1743=)
c.4352G= (p.Arg1451=)
c.3701G= (p.Arg1234=)
c.3305G= (p.Arg1102=)
c.3047G= (p.Arg1016=)
c.4325G= (p.Arg1442=)
10g.75030214G>TCA377301053DUSP29,KAT6Bc.5390G>T (p.Arg1797Leu)
c.4841G>T (p.Arg1614Leu)
c.4514G>T (p.Arg1505Leu)
n.577-3620C>A
c.*3622-3620C>A (n.*3622-3620C>A)
c.5228G>T (p.Arg1743Leu)
c.4352G>T (p.Arg1451Leu)
c.3701G>T (p.Arg1234Leu)
c.3305G>T (p.Arg1102Leu)
c.3047G>T (p.Arg1016Leu)
c.4325G>T (p.Arg1442Leu)

Number of alleles fetched