Chr Mutation (hg38) CAid Gene Transcript Linkouts
10g.75028997_75028999delCA2574596281DUSP29,KAT6Bc.4173_4175del (p.Glu1392del)
c.3624_3626del (p.Glu1209del)
c.3297_3299del (p.Glu1100del)
n.577-2403_577-2401del
c.*3622-2403_*3622-2401del (n.*3622-2403_*3622-2401del)
c.4011_4013del (p.Glu1338del)
c.3135_3137del (p.Glu1046del)
c.2484_2486del (p.Glu829del)
c.2088_2090del (p.Glu697del)
c.1830_1832del (p.Glu611del)
c.3108_3110del (p.Glu1037del)
10g.75028996A=CA1920306555DUSP29,KAT6Bc.4172A= (p.Glu1391=)
c.3623A= (p.Glu1208=)
c.3296A= (p.Glu1099=)
n.577-2402T=
c.*3622-2402T= (n.*3622-2402T=)
c.4010A= (p.Glu1337=)
c.3134A= (p.Glu1045=)
c.2483A= (p.Glu828=)
c.2087A= (p.Glu696=)
c.1829A= (p.Glu610=)
c.3107A= (p.Glu1036=)
10g.75028996A>CCA377296224DUSP29,KAT6Bc.4172A>C (p.Glu1391Ala)
c.3623A>C (p.Glu1208Ala)
c.3296A>C (p.Glu1099Ala)
n.577-2402T>G
c.*3622-2402T>G (n.*3622-2402T>G)
c.4010A>C (p.Glu1337Ala)
c.3134A>C (p.Glu1045Ala)
c.2483A>C (p.Glu828Ala)
c.2087A>C (p.Glu696Ala)
c.1829A>C (p.Glu610Ala)
c.3107A>C (p.Glu1036Ala)
10g.75028996A>GCA377296229DUSP29,KAT6Bc.4172A>G (p.Glu1391Gly)
c.3623A>G (p.Glu1208Gly)
c.3296A>G (p.Glu1099Gly)
n.577-2402T>C
c.*3622-2402T>C (n.*3622-2402T>C)
c.4010A>G (p.Glu1337Gly)
c.3134A>G (p.Glu1045Gly)
c.2483A>G (p.Glu828Gly)
c.2087A>G (p.Glu696Gly)
c.1829A>G (p.Glu610Gly)
c.3107A>G (p.Glu1036Gly)
10g.75028996A>TCA5564981DUSP29,KAT6Bc.4172A>T (p.Glu1391Val)
c.3623A>T (p.Glu1208Val)
c.3296A>T (p.Glu1099Val)
n.577-2402T>A
c.*3622-2402T>A (n.*3622-2402T>A)
c.4010A>T (p.Glu1337Val)
c.3134A>T (p.Glu1045Val)
c.2483A>T (p.Glu828Val)
c.2087A>T (p.Glu696Val)
c.1829A>T (p.Glu610Val)
c.3107A>T (p.Glu1036Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.75028997G>ACA470300098DUSP29,KAT6Bc.4173G>A (p.Glu1391=)
c.3624G>A (p.Glu1208=)
c.3297G>A (p.Glu1099=)
n.577-2403C>T
c.*3622-2403C>T (n.*3622-2403C>T)
c.4011G>A (p.Glu1337=)
c.3135G>A (p.Glu1045=)
c.2484G>A (p.Glu828=)
c.2088G>A (p.Glu696=)
c.1830G>A (p.Glu610=)
c.3108G>A (p.Glu1036=)
 dbSNP
10g.75028997G>CCA5564982DUSP29,KAT6Bc.4173G>C (p.Glu1391Asp)
c.3624G>C (p.Glu1208Asp)
c.3297G>C (p.Glu1099Asp)
n.577-2403C>G
c.*3622-2403C>G (n.*3622-2403C>G)
c.4011G>C (p.Glu1337Asp)
c.3135G>C (p.Glu1045Asp)
c.2484G>C (p.Glu828Asp)
c.2088G>C (p.Glu696Asp)
c.1830G>C (p.Glu610Asp)
c.3108G>C (p.Glu1036Asp)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.75028997G=CA1920306556DUSP29,KAT6Bc.4173G= (p.Glu1391=)
c.3624G= (p.Glu1208=)
c.3297G= (p.Glu1099=)
n.577-2403C=
c.*3622-2403C= (n.*3622-2403C=)
c.4011G= (p.Glu1337=)
c.3135G= (p.Glu1045=)
c.2484G= (p.Glu828=)
c.2088G= (p.Glu696=)
c.1830G= (p.Glu610=)
c.3108G= (p.Glu1036=)
10g.75028997G>TCA377296239DUSP29,KAT6Bc.4173G>T (p.Glu1391Asp)
c.3624G>T (p.Glu1208Asp)
c.3297G>T (p.Glu1099Asp)
n.577-2403C>A
c.*3622-2403C>A (n.*3622-2403C>A)
c.4011G>T (p.Glu1337Asp)
c.3135G>T (p.Glu1045Asp)
c.2484G>T (p.Glu828Asp)
c.2088G>T (p.Glu696Asp)
c.1830G>T (p.Glu610Asp)
c.3108G>T (p.Glu1036Asp)
10g.75028998G>ACA377296242DUSP29,KAT6Bc.4174G>A (p.Glu1392Lys)
c.3625G>A (p.Glu1209Lys)
c.3298G>A (p.Glu1100Lys)
n.577-2404C>T
c.*3622-2404C>T (n.*3622-2404C>T)
c.4012G>A (p.Glu1338Lys)
c.3136G>A (p.Glu1046Lys)
c.2485G>A (p.Glu829Lys)
c.2089G>A (p.Glu697Lys)
c.1831G>A (p.Glu611Lys)
c.3109G>A (p.Glu1037Lys)
 gnomAD v4
10g.75028998G>CCA377296245DUSP29,KAT6Bc.4174G>C (p.Glu1392Gln)
c.3625G>C (p.Glu1209Gln)
c.3298G>C (p.Glu1100Gln)
n.577-2404C>G
c.*3622-2404C>G (n.*3622-2404C>G)
c.4012G>C (p.Glu1338Gln)
c.3136G>C (p.Glu1046Gln)
c.2485G>C (p.Glu829Gln)
c.2089G>C (p.Glu697Gln)
c.1831G>C (p.Glu611Gln)
c.3109G>C (p.Glu1037Gln)
10g.75028998G>TCA377296247DUSP29,KAT6Bc.4174G>T (p.Glu1392Ter)
c.3625G>T (p.Glu1209Ter)
c.3298G>T (p.Glu1100Ter)
n.577-2404C>A
c.*3622-2404C>A (n.*3622-2404C>A)
c.4012G>T (p.Glu1338Ter)
c.3136G>T (p.Glu1046Ter)
c.2485G>T (p.Glu829Ter)
c.2089G>T (p.Glu697Ter)
c.1831G>T (p.Glu611Ter)
c.3109G>T (p.Glu1037Ter)
10g.75028999A>CCA377296250DUSP29,KAT6Bc.4175A>C (p.Glu1392Ala)
c.3626A>C (p.Glu1209Ala)
c.3299A>C (p.Glu1100Ala)
n.577-2405T>G
c.*3622-2405T>G (n.*3622-2405T>G)
c.4013A>C (p.Glu1338Ala)
c.3137A>C (p.Glu1046Ala)
c.2486A>C (p.Glu829Ala)
c.2090A>C (p.Glu697Ala)
c.1832A>C (p.Glu611Ala)
c.3110A>C (p.Glu1037Ala)
10g.75028999A>GCA377296252DUSP29,KAT6Bc.4175A>G (p.Glu1392Gly)
c.3626A>G (p.Glu1209Gly)
c.3299A>G (p.Glu1100Gly)
n.577-2405T>C
c.*3622-2405T>C (n.*3622-2405T>C)
c.4013A>G (p.Glu1338Gly)
c.3137A>G (p.Glu1046Gly)
c.2486A>G (p.Glu829Gly)
c.2090A>G (p.Glu697Gly)
c.1832A>G (p.Glu611Gly)
c.3110A>G (p.Glu1037Gly)
10g.75028999A>TCA377296255DUSP29,KAT6Bc.4175A>T (p.Glu1392Val)
c.3626A>T (p.Glu1209Val)
c.3299A>T (p.Glu1100Val)
n.577-2405T>A
c.*3622-2405T>A (n.*3622-2405T>A)
c.4013A>T (p.Glu1338Val)
c.3137A>T (p.Glu1046Val)
c.2486A>T (p.Glu829Val)
c.2090A>T (p.Glu697Val)
c.1832A>T (p.Glu611Val)
c.3110A>T (p.Glu1037Val)
10g.75029000A>CCA377296258DUSP29,KAT6Bc.4176A>C (p.Glu1392Asp)
c.3627A>C (p.Glu1209Asp)
c.3300A>C (p.Glu1100Asp)
n.577-2406T>G
c.*3622-2406T>G (n.*3622-2406T>G)
c.4014A>C (p.Glu1338Asp)
c.3138A>C (p.Glu1046Asp)
c.2487A>C (p.Glu829Asp)
c.2091A>C (p.Glu697Asp)
c.1833A>C (p.Glu611Asp)
c.3111A>C (p.Glu1037Asp)
10g.75029000A>GCA470300110DUSP29,KAT6Bc.4176A>G (p.Glu1392=)
c.3627A>G (p.Glu1209=)
c.3300A>G (p.Glu1100=)
n.577-2406T>C
c.*3622-2406T>C (n.*3622-2406T>C)
c.4014A>G (p.Glu1338=)
c.3138A>G (p.Glu1046=)
c.2487A>G (p.Glu829=)
c.2091A>G (p.Glu697=)
c.1833A>G (p.Glu611=)
c.3111A>G (p.Glu1037=)
 COSMIC
10g.75029000A>TCA377296260DUSP29,KAT6Bc.4176A>T (p.Glu1392Asp)
c.3627A>T (p.Glu1209Asp)
c.3300A>T (p.Glu1100Asp)
n.577-2406T>A
c.*3622-2406T>A (n.*3622-2406T>A)
c.4014A>T (p.Glu1338Asp)
c.3138A>T (p.Glu1046Asp)
c.2487A>T (p.Glu829Asp)
c.2091A>T (p.Glu697Asp)
c.1833A>T (p.Glu611Asp)
c.3111A>T (p.Glu1037Asp)
10g.75029001C>ACA377296266DUSP29,KAT6Bc.4177C>A (p.Pro1393Thr)
c.3628C>A (p.Pro1210Thr)
c.3301C>A (p.Pro1101Thr)
n.577-2407G>T
c.*3622-2407G>T (n.*3622-2407G>T)
c.4015C>A (p.Pro1339Thr)
c.3139C>A (p.Pro1047Thr)
c.2488C>A (p.Pro830Thr)
c.2092C>A (p.Pro698Thr)
c.1834C>A (p.Pro612Thr)
c.3112C>A (p.Pro1038Thr)
10g.75029001C=CA1920306557DUSP29,KAT6Bc.4177C= (p.Pro1393=)
c.3628C= (p.Pro1210=)
c.3301C= (p.Pro1101=)
n.577-2407G=
c.*3622-2407G= (n.*3622-2407G=)
c.4015C= (p.Pro1339=)
c.3139C= (p.Pro1047=)
c.2488C= (p.Pro830=)
c.2092C= (p.Pro698=)
c.1834C= (p.Pro612=)
c.3112C= (p.Pro1038=)
10g.75029001C>GCA377296269DUSP29,KAT6Bc.4177C>G (p.Pro1393Ala)
c.3628C>G (p.Pro1210Ala)
c.3301C>G (p.Pro1101Ala)
n.577-2407G>C
c.*3622-2407G>C (n.*3622-2407G>C)
c.4015C>G (p.Pro1339Ala)
c.3139C>G (p.Pro1047Ala)
c.2488C>G (p.Pro830Ala)
c.2092C>G (p.Pro698Ala)
c.1834C>G (p.Pro612Ala)
c.3112C>G (p.Pro1038Ala)
10g.75029001C>TCA377296273DUSP29,KAT6Bc.4177C>T (p.Pro1393Ser)
c.3628C>T (p.Pro1210Ser)
c.3301C>T (p.Pro1101Ser)
n.577-2407G>A
c.*3622-2407G>A (n.*3622-2407G>A)
c.4015C>T (p.Pro1339Ser)
c.3139C>T (p.Pro1047Ser)
c.2488C>T (p.Pro830Ser)
c.2092C>T (p.Pro698Ser)
c.1834C>T (p.Pro612Ser)
c.3112C>T (p.Pro1038Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v4
10g.75029002C>ACA377296276DUSP29,KAT6Bc.4178C>A (p.Pro1393Gln)
c.3629C>A (p.Pro1210Gln)
c.3302C>A (p.Pro1101Gln)
n.577-2408G>T
c.*3622-2408G>T (n.*3622-2408G>T)
c.4016C>A (p.Pro1339Gln)
c.3140C>A (p.Pro1047Gln)
c.2489C>A (p.Pro830Gln)
c.2093C>A (p.Pro698Gln)
c.1835C>A (p.Pro612Gln)
c.3113C>A (p.Pro1038Gln)
 dbSNP gnomAD v2 gnomAD v4
10g.75029002C=CA1920306558DUSP29,KAT6Bc.4178C= (p.Pro1393=)
c.3629C= (p.Pro1210=)
c.3302C= (p.Pro1101=)
n.577-2408G=
c.*3622-2408G= (n.*3622-2408G=)
c.4016C= (p.Pro1339=)
c.3140C= (p.Pro1047=)
c.2489C= (p.Pro830=)
c.2093C= (p.Pro698=)
c.1835C= (p.Pro612=)
c.3113C= (p.Pro1038=)
10g.75029002C>GCA377296277DUSP29,KAT6Bc.4178C>G (p.Pro1393Arg)
c.3629C>G (p.Pro1210Arg)
c.3302C>G (p.Pro1101Arg)
n.577-2408G>C
c.*3622-2408G>C (n.*3622-2408G>C)
c.4016C>G (p.Pro1339Arg)
c.3140C>G (p.Pro1047Arg)
c.2489C>G (p.Pro830Arg)
c.2093C>G (p.Pro698Arg)
c.1835C>G (p.Pro612Arg)
c.3113C>G (p.Pro1038Arg)
10g.75029002C>TCA377296278DUSP29,KAT6Bc.4178C>T (p.Pro1393Leu)
c.3629C>T (p.Pro1210Leu)
c.3302C>T (p.Pro1101Leu)
n.577-2408G>A
c.*3622-2408G>A (n.*3622-2408G>A)
c.4016C>T (p.Pro1339Leu)
c.3140C>T (p.Pro1047Leu)
c.2489C>T (p.Pro830Leu)
c.2093C>T (p.Pro698Leu)
c.1835C>T (p.Pro612Leu)
c.3113C>T (p.Pro1038Leu)
 gnomAD v4
10g.75029003A>CCA470300119DUSP29,KAT6Bc.4179A>C (p.Pro1393=)
c.3630A>C (p.Pro1210=)
c.3303A>C (p.Pro1101=)
n.577-2409T>G
c.*3622-2409T>G (n.*3622-2409T>G)
c.4017A>C (p.Pro1339=)
c.3141A>C (p.Pro1047=)
c.2490A>C (p.Pro830=)
c.2094A>C (p.Pro698=)
c.1836A>C (p.Pro612=)
c.3114A>C (p.Pro1038=)
10g.75029003A>GCA470300121DUSP29,KAT6Bc.4179A>G (p.Pro1393=)
c.3630A>G (p.Pro1210=)
c.3303A>G (p.Pro1101=)
n.577-2409T>C
c.*3622-2409T>C (n.*3622-2409T>C)
c.4017A>G (p.Pro1339=)
c.3141A>G (p.Pro1047=)
c.2490A>G (p.Pro830=)
c.2094A>G (p.Pro698=)
c.1836A>G (p.Pro612=)
c.3114A>G (p.Pro1038=)
 gnomAD v4
10g.75029003A>TCA470300116DUSP29,KAT6Bc.4179A>T (p.Pro1393=)
c.3630A>T (p.Pro1210=)
c.3303A>T (p.Pro1101=)
n.577-2409T>A
c.*3622-2409T>A (n.*3622-2409T>A)
c.4017A>T (p.Pro1339=)
c.3141A>T (p.Pro1047=)
c.2490A>T (p.Pro830=)
c.2094A>T (p.Pro698=)
c.1836A>T (p.Pro612=)
c.3114A>T (p.Pro1038=)
10g.75029004G>ACA377296287DUSP29,KAT6Bc.4180G>A (p.Glu1394Lys)
c.3631G>A (p.Glu1211Lys)
c.3304G>A (p.Glu1102Lys)
n.577-2410C>T
c.*3622-2410C>T (n.*3622-2410C>T)
c.4018G>A (p.Glu1340Lys)
c.3142G>A (p.Glu1048Lys)
c.2491G>A (p.Glu831Lys)
c.2095G>A (p.Glu699Lys)
c.1837G>A (p.Glu613Lys)
c.3115G>A (p.Glu1039Lys)
10g.75029004G>CCA377296281DUSP29,KAT6Bc.4180G>C (p.Glu1394Gln)
c.3631G>C (p.Glu1211Gln)
c.3304G>C (p.Glu1102Gln)
n.577-2410C>G
c.*3622-2410C>G (n.*3622-2410C>G)
c.4018G>C (p.Glu1340Gln)
c.3142G>C (p.Glu1048Gln)
c.2491G>C (p.Glu831Gln)
c.2095G>C (p.Glu699Gln)
c.1837G>C (p.Glu613Gln)
c.3115G>C (p.Glu1039Gln)
10g.75029004G>TCA377296284DUSP29,KAT6Bc.4180G>T (p.Glu1394Ter)
c.3631G>T (p.Glu1211Ter)
c.3304G>T (p.Glu1102Ter)
n.577-2410C>A
c.*3622-2410C>A (n.*3622-2410C>A)
c.4018G>T (p.Glu1340Ter)
c.3142G>T (p.Glu1048Ter)
c.2491G>T (p.Glu831Ter)
c.2095G>T (p.Glu699Ter)
c.1837G>T (p.Glu613Ter)
c.3115G>T (p.Glu1039Ter)
10g.75029005A>CCA377296292DUSP29,KAT6Bc.4181A>C (p.Glu1394Ala)
c.3632A>C (p.Glu1211Ala)
c.3305A>C (p.Glu1102Ala)
n.577-2411T>G
c.*3622-2411T>G (n.*3622-2411T>G)
c.4019A>C (p.Glu1340Ala)
c.3143A>C (p.Glu1048Ala)
c.2492A>C (p.Glu831Ala)
c.2096A>C (p.Glu699Ala)
c.1838A>C (p.Glu613Ala)
c.3116A>C (p.Glu1039Ala)
10g.75029005A>GCA377296293DUSP29,KAT6Bc.4181A>G (p.Glu1394Gly)
c.3632A>G (p.Glu1211Gly)
c.3305A>G (p.Glu1102Gly)
n.577-2411T>C
c.*3622-2411T>C (n.*3622-2411T>C)
c.4019A>G (p.Glu1340Gly)
c.3143A>G (p.Glu1048Gly)
c.2492A>G (p.Glu831Gly)
c.2096A>G (p.Glu699Gly)
c.1838A>G (p.Glu613Gly)
c.3116A>G (p.Glu1039Gly)
 gnomAD v4
10g.75029005A>TCA377296294DUSP29,KAT6Bc.4181A>T (p.Glu1394Val)
c.3632A>T (p.Glu1211Val)
c.3305A>T (p.Glu1102Val)
n.577-2411T>A
c.*3622-2411T>A (n.*3622-2411T>A)
c.4019A>T (p.Glu1340Val)
c.3143A>T (p.Glu1048Val)
c.2492A>T (p.Glu831Val)
c.2096A>T (p.Glu699Val)
c.1838A>T (p.Glu613Val)
c.3116A>T (p.Glu1039Val)
10g.75029006A>CCA377296295DUSP29,KAT6Bc.4182A>C (p.Glu1394Asp)
c.3633A>C (p.Glu1211Asp)
c.3306A>C (p.Glu1102Asp)
n.577-2412T>G
c.*3622-2412T>G (n.*3622-2412T>G)
c.4020A>C (p.Glu1340Asp)
c.3144A>C (p.Glu1048Asp)
c.2493A>C (p.Glu831Asp)
c.2097A>C (p.Glu699Asp)
c.1839A>C (p.Glu613Asp)
c.3117A>C (p.Glu1039Asp)
10g.75029006A>GCA470300126DUSP29,KAT6Bc.4182A>G (p.Glu1394=)
c.3633A>G (p.Glu1211=)
c.3306A>G (p.Glu1102=)
n.577-2412T>C
c.*3622-2412T>C (n.*3622-2412T>C)
c.4020A>G (p.Glu1340=)
c.3144A>G (p.Glu1048=)
c.2493A>G (p.Glu831=)
c.2097A>G (p.Glu699=)
c.1839A>G (p.Glu613=)
c.3117A>G (p.Glu1039=)
 gnomAD v4
10g.75029006A>TCA377296296DUSP29,KAT6Bc.4182A>T (p.Glu1394Asp)
c.3633A>T (p.Glu1211Asp)
c.3306A>T (p.Glu1102Asp)
n.577-2412T>A
c.*3622-2412T>A (n.*3622-2412T>A)
c.4020A>T (p.Glu1340Asp)
c.3144A>T (p.Glu1048Asp)
c.2493A>T (p.Glu831Asp)
c.2097A>T (p.Glu699Asp)
c.1839A>T (p.Glu613Asp)
c.3117A>T (p.Glu1039Asp)
10g.75029007A>CCA377296298DUSP29,KAT6Bc.4183A>C (p.Ile1395Leu)
c.3634A>C (p.Ile1212Leu)
c.3307A>C (p.Ile1103Leu)
n.577-2413T>G
c.*3622-2413T>G (n.*3622-2413T>G)
c.4021A>C (p.Ile1341Leu)
c.3145A>C (p.Ile1049Leu)
c.2494A>C (p.Ile832Leu)
c.2098A>C (p.Ile700Leu)
c.1840A>C (p.Ile614Leu)
c.3118A>C (p.Ile1040Leu)
10g.75029007A>GCA377296311DUSP29,KAT6Bc.4183A>G (p.Ile1395Val)
c.3634A>G (p.Ile1212Val)
c.3307A>G (p.Ile1103Val)
n.577-2413T>C
c.*3622-2413T>C (n.*3622-2413T>C)
c.4021A>G (p.Ile1341Val)
c.3145A>G (p.Ile1049Val)
c.2494A>G (p.Ile832Val)
c.2098A>G (p.Ile700Val)
c.1840A>G (p.Ile614Val)
c.3118A>G (p.Ile1040Val)
10g.75029007A>TCA377296301DUSP29,KAT6Bc.4183A>T (p.Ile1395Phe)
c.3634A>T (p.Ile1212Phe)
c.3307A>T (p.Ile1103Phe)
n.577-2413T>A
c.*3622-2413T>A (n.*3622-2413T>A)
c.4021A>T (p.Ile1341Phe)
c.3145A>T (p.Ile1049Phe)
c.2494A>T (p.Ile832Phe)
c.2098A>T (p.Ile700Phe)
c.1840A>T (p.Ile614Phe)
c.3118A>T (p.Ile1040Phe)
10g.75029008T>ACA5564983DUSP29,KAT6Bc.4184T>A (p.Ile1395Asn)
c.3635T>A (p.Ile1212Asn)
c.3308T>A (p.Ile1103Asn)
n.577-2414A>T
c.*3622-2414A>T (n.*3622-2414A>T)
c.4022T>A (p.Ile1341Asn)
c.3146T>A (p.Ile1049Asn)
c.2495T>A (p.Ile832Asn)
c.2099T>A (p.Ile700Asn)
c.1841T>A (p.Ile614Asn)
c.3119T>A (p.Ile1040Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.75029008T>CCA5564984DUSP29,KAT6Bc.4184T>C (p.Ile1395Thr)
c.3635T>C (p.Ile1212Thr)
c.3308T>C (p.Ile1103Thr)
n.577-2414A>G
c.*3622-2414A>G (n.*3622-2414A>G)
c.4022T>C (p.Ile1341Thr)
c.3146T>C (p.Ile1049Thr)
c.2495T>C (p.Ile832Thr)
c.2099T>C (p.Ile700Thr)
c.1841T>C (p.Ile614Thr)
c.3119T>C (p.Ile1040Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.75029008T>GCA377296318DUSP29,KAT6Bc.4184T>G (p.Ile1395Ser)
c.3635T>G (p.Ile1212Ser)
c.3308T>G (p.Ile1103Ser)
n.577-2414A>C
c.*3622-2414A>C (n.*3622-2414A>C)
c.4022T>G (p.Ile1341Ser)
c.3146T>G (p.Ile1049Ser)
c.2495T>G (p.Ile832Ser)
c.2099T>G (p.Ile700Ser)
c.1841T>G (p.Ile614Ser)
c.3119T>G (p.Ile1040Ser)
10g.75029008T=CA1920306559DUSP29,KAT6Bc.4184T= (p.Ile1395=)
c.3635T= (p.Ile1212=)
c.3308T= (p.Ile1103=)
n.577-2414A=
c.*3622-2414A= (n.*3622-2414A=)
c.4022T= (p.Ile1341=)
c.3146T= (p.Ile1049=)
c.2495T= (p.Ile832=)
c.2099T= (p.Ile700=)
c.1841T= (p.Ile614=)
c.3119T= (p.Ile1040=)
10g.75029009C>ACA470300140DUSP29,KAT6Bc.4185C>A (p.Ile1395=)
c.3636C>A (p.Ile1212=)
c.3309C>A (p.Ile1103=)
n.577-2415G>T
c.*3622-2415G>T (n.*3622-2415G>T)
c.4023C>A (p.Ile1341=)
c.3147C>A (p.Ile1049=)
c.2496C>A (p.Ile832=)
c.2100C>A (p.Ile700=)
c.1842C>A (p.Ile614=)
c.3120C>A (p.Ile1040=)
10g.75029009C=CA1920306560DUSP29,KAT6Bc.4185C= (p.Ile1395=)
c.3636C= (p.Ile1212=)
c.3309C= (p.Ile1103=)
n.577-2415G=
c.*3622-2415G= (n.*3622-2415G=)
c.4023C= (p.Ile1341=)
c.3147C= (p.Ile1049=)
c.2496C= (p.Ile832=)
c.2100C= (p.Ile700=)
c.1842C= (p.Ile614=)
c.3120C= (p.Ile1040=)
10g.75029009C>GCA377296321DUSP29,KAT6Bc.4185C>G (p.Ile1395Met)
c.3636C>G (p.Ile1212Met)
c.3309C>G (p.Ile1103Met)
n.577-2415G>C
c.*3622-2415G>C (n.*3622-2415G>C)
c.4023C>G (p.Ile1341Met)
c.3147C>G (p.Ile1049Met)
c.2496C>G (p.Ile832Met)
c.2100C>G (p.Ile700Met)
c.1842C>G (p.Ile614Met)
c.3120C>G (p.Ile1040Met)
 dbSNP
10g.75029009C>TCA470300138DUSP29,KAT6Bc.4185C>T (p.Ile1395=)
c.3636C>T (p.Ile1212=)
c.3309C>T (p.Ile1103=)
n.577-2415G>A
c.*3622-2415G>A (n.*3622-2415G>A)
c.4023C>T (p.Ile1341=)
c.3147C>T (p.Ile1049=)
c.2496C>T (p.Ile832=)
c.2100C>T (p.Ile700=)
c.1842C>T (p.Ile614=)
c.3120C>T (p.Ile1040=)
 dbSNP gnomAD v3 gnomAD v4
10g.75029010T>ACA5564985DUSP29,KAT6Bc.4186T>A (p.Ser1396Thr)
c.3637T>A (p.Ser1213Thr)
c.3310T>A (p.Ser1104Thr)
n.577-2416A>T
c.*3622-2416A>T (n.*3622-2416A>T)
c.4024T>A (p.Ser1342Thr)
c.3148T>A (p.Ser1050Thr)
c.2497T>A (p.Ser833Thr)
c.2101T>A (p.Ser701Thr)
c.1843T>A (p.Ser615Thr)
c.3121T>A (p.Ser1041Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.75029010T>CCA377296322DUSP29,KAT6Bc.4186T>C (p.Ser1396Pro)
c.3637T>C (p.Ser1213Pro)
c.3310T>C (p.Ser1104Pro)
n.577-2416A>G
c.*3622-2416A>G (n.*3622-2416A>G)
c.4024T>C (p.Ser1342Pro)
c.3148T>C (p.Ser1050Pro)
c.2497T>C (p.Ser833Pro)
c.2101T>C (p.Ser701Pro)
c.1843T>C (p.Ser615Pro)
c.3121T>C (p.Ser1041Pro)
10g.75029010T>GCA377296323DUSP29,KAT6Bc.4186T>G (p.Ser1396Ala)
c.3637T>G (p.Ser1213Ala)
c.3310T>G (p.Ser1104Ala)
n.577-2416A>C
c.*3622-2416A>C (n.*3622-2416A>C)
c.4024T>G (p.Ser1342Ala)
c.3148T>G (p.Ser1050Ala)
c.2497T>G (p.Ser833Ala)
c.2101T>G (p.Ser701Ala)
c.1843T>G (p.Ser615Ala)
c.3121T>G (p.Ser1041Ala)
10g.75029010T=CA1920306561DUSP29,KAT6Bc.4186T= (p.Ser1396=)
c.3637T= (p.Ser1213=)
c.3310T= (p.Ser1104=)
n.577-2416A=
c.*3622-2416A= (n.*3622-2416A=)
c.4024T= (p.Ser1342=)
c.3148T= (p.Ser1050=)
c.2497T= (p.Ser833=)
c.2101T= (p.Ser701=)
c.1843T= (p.Ser615=)
c.3121T= (p.Ser1041=)
10g.75029011C>ACA377296328DUSP29,KAT6Bc.4187C>A (p.Ser1396Tyr)
c.3638C>A (p.Ser1213Tyr)
c.3311C>A (p.Ser1104Tyr)
n.577-2417G>T
c.*3622-2417G>T (n.*3622-2417G>T)
c.4025C>A (p.Ser1342Tyr)
c.3149C>A (p.Ser1050Tyr)
c.2498C>A (p.Ser833Tyr)
c.2102C>A (p.Ser701Tyr)
c.1844C>A (p.Ser615Tyr)
c.3122C>A (p.Ser1041Tyr)
10g.75029011C>GCA377296331DUSP29,KAT6Bc.4187C>G (p.Ser1396Cys)
c.3638C>G (p.Ser1213Cys)
c.3311C>G (p.Ser1104Cys)
n.577-2417G>C
c.*3622-2417G>C (n.*3622-2417G>C)
c.4025C>G (p.Ser1342Cys)
c.3149C>G (p.Ser1050Cys)
c.2498C>G (p.Ser833Cys)
c.2102C>G (p.Ser701Cys)
c.1844C>G (p.Ser615Cys)
c.3122C>G (p.Ser1041Cys)
10g.75029011C>TCA377296333DUSP29,KAT6Bc.4187C>T (p.Ser1396Phe)
c.3638C>T (p.Ser1213Phe)
c.3311C>T (p.Ser1104Phe)
n.577-2417G>A
c.*3622-2417G>A (n.*3622-2417G>A)
c.4025C>T (p.Ser1342Phe)
c.3149C>T (p.Ser1050Phe)
c.2498C>T (p.Ser833Phe)
c.2102C>T (p.Ser701Phe)
c.1844C>T (p.Ser615Phe)
c.3122C>T (p.Ser1041Phe)
10g.75029012C>ACA470300150DUSP29,KAT6Bc.4188C>A (p.Ser1396=)
c.3639C>A (p.Ser1213=)
c.3312C>A (p.Ser1104=)
n.577-2418G>T
c.*3622-2418G>T (n.*3622-2418G>T)
c.4026C>A (p.Ser1342=)
c.3150C>A (p.Ser1050=)
c.2499C>A (p.Ser833=)
c.2103C>A (p.Ser701=)
c.1845C>A (p.Ser615=)
c.3123C>A (p.Ser1041=)
10g.75029012C=CA1920306562DUSP29,KAT6Bc.4188C= (p.Ser1396=)
c.3639C= (p.Ser1213=)
c.3312C= (p.Ser1104=)
n.577-2418G=
c.*3622-2418G= (n.*3622-2418G=)
c.4026C= (p.Ser1342=)
c.3150C= (p.Ser1050=)
c.2499C= (p.Ser833=)
c.2103C= (p.Ser701=)
c.1845C= (p.Ser615=)
c.3123C= (p.Ser1041=)
10g.75029012C>GCA470300152DUSP29,KAT6Bc.4188C>G (p.Ser1396=)
c.3639C>G (p.Ser1213=)
c.3312C>G (p.Ser1104=)
n.577-2418G>C
c.*3622-2418G>C (n.*3622-2418G>C)
c.4026C>G (p.Ser1342=)
c.3150C>G (p.Ser1050=)
c.2499C>G (p.Ser833=)
c.2103C>G (p.Ser701=)
c.1845C>G (p.Ser615=)
c.3123C>G (p.Ser1041=)
10g.75029012C>TCA209709691DUSP29,KAT6Bc.4188C>T (p.Ser1396=)
c.3639C>T (p.Ser1213=)
c.3312C>T (p.Ser1104=)
n.577-2418G>A
c.*3622-2418G>A (n.*3622-2418G>A)
c.4026C>T (p.Ser1342=)
c.3150C>T (p.Ser1050=)
c.2499C>T (p.Ser833=)
c.2103C>T (p.Ser701=)
c.1845C>T (p.Ser615=)
c.3123C>T (p.Ser1041=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.75029013A=CA1920306563DUSP29,KAT6Bc.4189A= (p.Thr1397=)
c.3640A= (p.Thr1214=)
c.3313A= (p.Thr1105=)
n.577-2419T=
c.*3622-2419T= (n.*3622-2419T=)
c.4027A= (p.Thr1343=)
c.3151A= (p.Thr1051=)
c.2500A= (p.Thr834=)
c.2104A= (p.Thr702=)
c.1846A= (p.Thr616=)
c.3124A= (p.Thr1042=)
10g.75029013A>CCA377296340DUSP29,KAT6Bc.4189A>C (p.Thr1397Pro)
c.3640A>C (p.Thr1214Pro)
c.3313A>C (p.Thr1105Pro)
n.577-2419T>G
c.*3622-2419T>G (n.*3622-2419T>G)
c.4027A>C (p.Thr1343Pro)
c.3151A>C (p.Thr1051Pro)
c.2500A>C (p.Thr834Pro)
c.2104A>C (p.Thr702Pro)
c.1846A>C (p.Thr616Pro)
c.3124A>C (p.Thr1042Pro)
10g.75029013A>GCA5564986DUSP29,KAT6Bc.4189A>G (p.Thr1397Ala)
c.3640A>G (p.Thr1214Ala)
c.3313A>G (p.Thr1105Ala)
n.577-2419T>C
c.*3622-2419T>C (n.*3622-2419T>C)
c.4027A>G (p.Thr1343Ala)
c.3151A>G (p.Thr1051Ala)
c.2500A>G (p.Thr834Ala)
c.2104A>G (p.Thr702Ala)
c.1846A>G (p.Thr616Ala)
c.3124A>G (p.Thr1042Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.75029013A>TCA377296341DUSP29,KAT6Bc.4189A>T (p.Thr1397Ser)
c.3640A>T (p.Thr1214Ser)
c.3313A>T (p.Thr1105Ser)
n.577-2419T>A
c.*3622-2419T>A (n.*3622-2419T>A)
c.4027A>T (p.Thr1343Ser)
c.3151A>T (p.Thr1051Ser)
c.2500A>T (p.Thr834Ser)
c.2104A>T (p.Thr702Ser)
c.1846A>T (p.Thr616Ser)
c.3124A>T (p.Thr1042Ser)
10g.75029014C>ACA377296354DUSP29,KAT6Bc.4190C>A (p.Thr1397Lys)
c.3641C>A (p.Thr1214Lys)
c.3314C>A (p.Thr1105Lys)
n.577-2420G>T
c.*3622-2420G>T (n.*3622-2420G>T)
c.4028C>A (p.Thr1343Lys)
c.3152C>A (p.Thr1051Lys)
c.2501C>A (p.Thr834Lys)
c.2105C>A (p.Thr702Lys)
c.1847C>A (p.Thr616Lys)
c.3125C>A (p.Thr1042Lys)
10g.75029014C=CA1920306564DUSP29,KAT6Bc.4190C= (p.Thr1397=)
c.3641C= (p.Thr1214=)
c.3314C= (p.Thr1105=)
n.577-2420G=
c.*3622-2420G= (n.*3622-2420G=)
c.4028C= (p.Thr1343=)
c.3152C= (p.Thr1051=)
c.2501C= (p.Thr834=)
c.2105C= (p.Thr702=)
c.1847C= (p.Thr616=)
c.3125C= (p.Thr1042=)
10g.75029014C>GCA5564987DUSP29,KAT6Bc.4190C>G (p.Thr1397Arg)
c.3641C>G (p.Thr1214Arg)
c.3314C>G (p.Thr1105Arg)
n.577-2420G>C
c.*3622-2420G>C (n.*3622-2420G>C)
c.4028C>G (p.Thr1343Arg)
c.3152C>G (p.Thr1051Arg)
c.2501C>G (p.Thr834Arg)
c.2105C>G (p.Thr702Arg)
c.1847C>G (p.Thr616Arg)
c.3125C>G (p.Thr1042Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.75029014C>TCA209709697DUSP29,KAT6Bc.4190C>T (p.Thr1397Met)
c.3641C>T (p.Thr1214Met)
c.3314C>T (p.Thr1105Met)
n.577-2420G>A
c.*3622-2420G>A (n.*3622-2420G>A)
c.4028C>T (p.Thr1343Met)
c.3152C>T (p.Thr1051Met)
c.2501C>T (p.Thr834Met)
c.2105C>T (p.Thr702Met)
c.1847C>T (p.Thr616Met)
c.3125C>T (p.Thr1042Met)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
10g.75029015G>ACA5564988DUSP29,KAT6Bc.4191G>A (p.Thr1397=)
c.3642G>A (p.Thr1214=)
c.3315G>A (p.Thr1105=)
n.577-2421C>T
c.*3622-2421C>T (n.*3622-2421C>T)
c.4029G>A (p.Thr1343=)
c.3153G>A (p.Thr1051=)
c.2502G>A (p.Thr834=)
c.2106G>A (p.Thr702=)
c.1848G>A (p.Thr616=)
c.3126G>A (p.Thr1042=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.75029015G>CCA470300160DUSP29,KAT6Bc.4191G>C (p.Thr1397=)
c.3642G>C (p.Thr1214=)
c.3315G>C (p.Thr1105=)
n.577-2421C>G
c.*3622-2421C>G (n.*3622-2421C>G)
c.4029G>C (p.Thr1343=)
c.3153G>C (p.Thr1051=)
c.2502G>C (p.Thr834=)
c.2106G>C (p.Thr702=)
c.1848G>C (p.Thr616=)
c.3126G>C (p.Thr1042=)
10g.75029015G=CA1920306565DUSP29,KAT6Bc.4191G= (p.Thr1397=)
c.3642G= (p.Thr1214=)
c.3315G= (p.Thr1105=)
n.577-2421C=
c.*3622-2421C= (n.*3622-2421C=)
c.4029G= (p.Thr1343=)
c.3153G= (p.Thr1051=)
c.2502G= (p.Thr834=)
c.2106G= (p.Thr702=)
c.1848G= (p.Thr616=)
c.3126G= (p.Thr1042=)
10g.75029015G>TCA470300161DUSP29,KAT6Bc.4191G>T (p.Thr1397=)
c.3642G>T (p.Thr1214=)
c.3315G>T (p.Thr1105=)
n.577-2421C>A
c.*3622-2421C>A (n.*3622-2421C>A)
c.4029G>T (p.Thr1343=)
c.3153G>T (p.Thr1051=)
c.2502G>T (p.Thr834=)
c.2106G>T (p.Thr702=)
c.1848G>T (p.Thr616=)
c.3126G>T (p.Thr1042=)
10g.75029016G>ACA5564989DUSP29,KAT6Bc.4192G>A (p.Glu1398Lys)
c.3643G>A (p.Glu1215Lys)
c.3316G>A (p.Glu1106Lys)
n.577-2422C>T
c.*3622-2422C>T (n.*3622-2422C>T)
c.4030G>A (p.Glu1344Lys)
c.3154G>A (p.Glu1052Lys)
c.2503G>A (p.Glu835Lys)
c.2107G>A (p.Glu703Lys)
c.1849G>A (p.Glu617Lys)
c.3127G>A (p.Glu1043Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.75029016G>CCA377296367DUSP29,KAT6Bc.4192G>C (p.Glu1398Gln)
c.3643G>C (p.Glu1215Gln)
c.3316G>C (p.Glu1106Gln)
n.577-2422C>G
c.*3622-2422C>G (n.*3622-2422C>G)
c.4030G>C (p.Glu1344Gln)
c.3154G>C (p.Glu1052Gln)
c.2503G>C (p.Glu835Gln)
c.2107G>C (p.Glu703Gln)
c.1849G>C (p.Glu617Gln)
c.3127G>C (p.Glu1043Gln)
10g.75029016G=CA1920306566DUSP29,KAT6Bc.4192G= (p.Glu1398=)
c.3643G= (p.Glu1215=)
c.3316G= (p.Glu1106=)
n.577-2422C=
c.*3622-2422C= (n.*3622-2422C=)
c.4030G= (p.Glu1344=)
c.3154G= (p.Glu1052=)
c.2503G= (p.Glu835=)
c.2107G= (p.Glu703=)
c.1849G= (p.Glu617=)
c.3127G= (p.Glu1043=)
10g.75029016G>TCA377296370DUSP29,KAT6Bc.4192G>T (p.Glu1398Ter)
c.3643G>T (p.Glu1215Ter)
c.3316G>T (p.Glu1106Ter)
n.577-2422C>A
c.*3622-2422C>A (n.*3622-2422C>A)
c.4030G>T (p.Glu1344Ter)
c.3154G>T (p.Glu1052Ter)
c.2503G>T (p.Glu835Ter)
c.2107G>T (p.Glu703Ter)
c.1849G>T (p.Glu617Ter)
c.3127G>T (p.Glu1043Ter)
10g.75029017A=CA1920306567DUSP29,KAT6Bc.4193A= (p.Glu1398=)
c.3644A= (p.Glu1215=)
c.3317A= (p.Glu1106=)
n.577-2423T=
c.*3622-2423T= (n.*3622-2423T=)
c.4031A= (p.Glu1344=)
c.3155A= (p.Glu1052=)
c.2504A= (p.Glu835=)
c.2108A= (p.Glu703=)
c.1850A= (p.Glu617=)
c.3128A= (p.Glu1043=)
10g.75029017A>CCA377296372DUSP29,KAT6Bc.4193A>C (p.Glu1398Ala)
c.3644A>C (p.Glu1215Ala)
c.3317A>C (p.Glu1106Ala)
n.577-2423T>G
c.*3622-2423T>G (n.*3622-2423T>G)
c.4031A>C (p.Glu1344Ala)
c.3155A>C (p.Glu1052Ala)
c.2504A>C (p.Glu835Ala)
c.2108A>C (p.Glu703Ala)
c.1850A>C (p.Glu617Ala)
c.3128A>C (p.Glu1043Ala)
10g.75029017A>GCA377296373DUSP29,KAT6Bc.4193A>G (p.Glu1398Gly)
c.3644A>G (p.Glu1215Gly)
c.3317A>G (p.Glu1106Gly)
n.577-2423T>C
c.*3622-2423T>C (n.*3622-2423T>C)
c.4031A>G (p.Glu1344Gly)
c.3155A>G (p.Glu1052Gly)
c.2504A>G (p.Glu835Gly)
c.2108A>G (p.Glu703Gly)
c.1850A>G (p.Glu617Gly)
c.3128A>G (p.Glu1043Gly)
10g.75029017A>TCA377296376DUSP29,KAT6Bc.4193A>T (p.Glu1398Val)
c.3644A>T (p.Glu1215Val)
c.3317A>T (p.Glu1106Val)
n.577-2423T>A
c.*3622-2423T>A (n.*3622-2423T>A)
c.4031A>T (p.Glu1344Val)
c.3155A>T (p.Glu1052Val)
c.2504A>T (p.Glu835Val)
c.2108A>T (p.Glu703Val)
c.1850A>T (p.Glu617Val)
c.3128A>T (p.Glu1043Val)
 dbSNP gnomAD v3 gnomAD v4
10g.75029018A=CA1920306568DUSP29,KAT6Bc.4194A= (p.Glu1398=)
c.3645A= (p.Glu1215=)
c.3318A= (p.Glu1106=)
n.577-2424T=
c.*3622-2424T= (n.*3622-2424T=)
c.4032A= (p.Glu1344=)
c.3156A= (p.Glu1052=)
c.2505A= (p.Glu835=)
c.2109A= (p.Glu703=)
c.1851A= (p.Glu617=)
c.3129A= (p.Glu1043=)
10g.75029018A>CCA377296378DUSP29,KAT6Bc.4194A>C (p.Glu1398Asp)
c.3645A>C (p.Glu1215Asp)
c.3318A>C (p.Glu1106Asp)
n.577-2424T>G
c.*3622-2424T>G (n.*3622-2424T>G)
c.4032A>C (p.Glu1344Asp)
c.3156A>C (p.Glu1052Asp)
c.2505A>C (p.Glu835Asp)
c.2109A>C (p.Glu703Asp)
c.1851A>C (p.Glu617Asp)
c.3129A>C (p.Glu1043Asp)
 dbSNP gnomAD v4
10g.75029018A>GCA470299822DUSP29,KAT6Bc.4194A>G (p.Glu1398=)
c.3645A>G (p.Glu1215=)
c.3318A>G (p.Glu1106=)
n.577-2424T>C
c.*3622-2424T>C (n.*3622-2424T>C)
c.4032A>G (p.Glu1344=)
c.3156A>G (p.Glu1052=)
c.2505A>G (p.Glu835=)
c.2109A>G (p.Glu703=)
c.1851A>G (p.Glu617=)
c.3129A>G (p.Glu1043=)
10g.75029018A>TCA377296379DUSP29,KAT6Bc.4194A>T (p.Glu1398Asp)
c.3645A>T (p.Glu1215Asp)
c.3318A>T (p.Glu1106Asp)
n.577-2424T>A
c.*3622-2424T>A (n.*3622-2424T>A)
c.4032A>T (p.Glu1344Asp)
c.3156A>T (p.Glu1052Asp)
c.2505A>T (p.Glu835Asp)
c.2109A>T (p.Glu703Asp)
c.1851A>T (p.Glu617Asp)
c.3129A>T (p.Glu1043Asp)
10g.75029019A>CCA377296380DUSP29,KAT6Bc.4195A>C (p.Lys1399Gln)
c.3646A>C (p.Lys1216Gln)
c.3319A>C (p.Lys1107Gln)
n.577-2425T>G
c.*3622-2425T>G (n.*3622-2425T>G)
c.4033A>C (p.Lys1345Gln)
c.3157A>C (p.Lys1053Gln)
c.2506A>C (p.Lys836Gln)
c.2110A>C (p.Lys704Gln)
c.1852A>C (p.Lys618Gln)
c.3130A>C (p.Lys1044Gln)
10g.75029019A>GCA377296382DUSP29,KAT6Bc.4195A>G (p.Lys1399Glu)
c.3646A>G (p.Lys1216Glu)
c.3319A>G (p.Lys1107Glu)
n.577-2425T>C
c.*3622-2425T>C (n.*3622-2425T>C)
c.4033A>G (p.Lys1345Glu)
c.3157A>G (p.Lys1053Glu)
c.2506A>G (p.Lys836Glu)
c.2110A>G (p.Lys704Glu)
c.1852A>G (p.Lys618Glu)
c.3130A>G (p.Lys1044Glu)
 gnomAD v4
10g.75029019A>TCA377296385DUSP29,KAT6Bc.4195A>T (p.Lys1399Ter)
c.3646A>T (p.Lys1216Ter)
c.3319A>T (p.Lys1107Ter)
n.577-2425T>A
c.*3622-2425T>A (n.*3622-2425T>A)
c.4033A>T (p.Lys1345Ter)
c.3157A>T (p.Lys1053Ter)
c.2506A>T (p.Lys836Ter)
c.2110A>T (p.Lys704Ter)
c.1852A>T (p.Lys618Ter)
c.3130A>T (p.Lys1044Ter)
10g.75029020A=CA1920306569DUSP29,KAT6Bc.4196A= (p.Lys1399=)
c.3647A= (p.Lys1216=)
c.3320A= (p.Lys1107=)
n.577-2426T=
c.*3622-2426T= (n.*3622-2426T=)
c.4034A= (p.Lys1345=)
c.3158A= (p.Lys1053=)
c.2507A= (p.Lys836=)
c.2111A= (p.Lys704=)
c.1853A= (p.Lys618=)
c.3131A= (p.Lys1044=)
10g.75029020A>CCA377296388DUSP29,KAT6Bc.4196A>C (p.Lys1399Thr)
c.3647A>C (p.Lys1216Thr)
c.3320A>C (p.Lys1107Thr)
n.577-2426T>G
c.*3622-2426T>G (n.*3622-2426T>G)
c.4034A>C (p.Lys1345Thr)
c.3158A>C (p.Lys1053Thr)
c.2507A>C (p.Lys836Thr)
c.2111A>C (p.Lys704Thr)
c.1853A>C (p.Lys618Thr)
c.3131A>C (p.Lys1044Thr)
10g.75029020A>GCA377296386DUSP29,KAT6Bc.4196A>G (p.Lys1399Arg)
c.3647A>G (p.Lys1216Arg)
c.3320A>G (p.Lys1107Arg)
n.577-2426T>C
c.*3622-2426T>C (n.*3622-2426T>C)
c.4034A>G (p.Lys1345Arg)
c.3158A>G (p.Lys1053Arg)
c.2507A>G (p.Lys836Arg)
c.2111A>G (p.Lys704Arg)
c.1853A>G (p.Lys618Arg)
c.3131A>G (p.Lys1044Arg)
 dbSNP gnomAD v2 gnomAD v4
10g.75029020A>TCA377296387DUSP29,KAT6Bc.4196A>T (p.Lys1399Ile)
c.3647A>T (p.Lys1216Ile)
c.3320A>T (p.Lys1107Ile)
n.577-2426T>A
c.*3622-2426T>A (n.*3622-2426T>A)
c.4034A>T (p.Lys1345Ile)
c.3158A>T (p.Lys1053Ile)
c.2507A>T (p.Lys836Ile)
c.2111A>T (p.Lys704Ile)
c.1853A>T (p.Lys618Ile)
c.3131A>T (p.Lys1044Ile)
10g.75029021A>CCA377296392DUSP29,KAT6Bc.4197A>C (p.Lys1399Asn)
c.3648A>C (p.Lys1216Asn)
c.3321A>C (p.Lys1107Asn)
n.577-2427T>G
c.*3622-2427T>G (n.*3622-2427T>G)
c.4035A>C (p.Lys1345Asn)
c.3159A>C (p.Lys1053Asn)
c.2508A>C (p.Lys836Asn)
c.2112A>C (p.Lys704Asn)
c.1854A>C (p.Lys618Asn)
c.3132A>C (p.Lys1044Asn)
10g.75029021A>GCA470299827DUSP29,KAT6Bc.4197A>G (p.Lys1399=)
c.3648A>G (p.Lys1216=)
c.3321A>G (p.Lys1107=)
n.577-2427T>C
c.*3622-2427T>C (n.*3622-2427T>C)
c.4035A>G (p.Lys1345=)
c.3159A>G (p.Lys1053=)
c.2508A>G (p.Lys836=)
c.2112A>G (p.Lys704=)
c.1854A>G (p.Lys618=)
c.3132A>G (p.Lys1044=)
10g.75029021A>TCA377296394DUSP29,KAT6Bc.4197A>T (p.Lys1399Asn)
c.3648A>T (p.Lys1216Asn)
c.3321A>T (p.Lys1107Asn)
n.577-2427T>A
c.*3622-2427T>A (n.*3622-2427T>A)
c.4035A>T (p.Lys1345Asn)
c.3159A>T (p.Lys1053Asn)
c.2508A>T (p.Lys836Asn)
c.2112A>T (p.Lys704Asn)
c.1854A>T (p.Lys618Asn)
c.3132A>T (p.Lys1044Asn)
10g.75029022G>ACA377296396DUSP29,KAT6Bc.4198G>A (p.Glu1400Lys)
c.3649G>A (p.Glu1217Lys)
c.3322G>A (p.Glu1108Lys)
n.577-2428C>T
c.*3622-2428C>T (n.*3622-2428C>T)
c.4036G>A (p.Glu1346Lys)
c.3160G>A (p.Glu1054Lys)
c.2509G>A (p.Glu837Lys)
c.2113G>A (p.Glu705Lys)
c.1855G>A (p.Glu619Lys)
c.3133G>A (p.Glu1045Lys)
10g.75029022G>CCA377296400DUSP29,KAT6Bc.4198G>C (p.Glu1400Gln)
c.3649G>C (p.Glu1217Gln)
c.3322G>C (p.Glu1108Gln)
n.577-2428C>G
c.*3622-2428C>G (n.*3622-2428C>G)
c.4036G>C (p.Glu1346Gln)
c.3160G>C (p.Glu1054Gln)
c.2509G>C (p.Glu837Gln)
c.2113G>C (p.Glu705Gln)
c.1855G>C (p.Glu619Gln)
c.3133G>C (p.Glu1045Gln)
10g.75029022G>TCA377296402DUSP29,KAT6Bc.4198G>T (p.Glu1400Ter)
c.3649G>T (p.Glu1217Ter)
c.3322G>T (p.Glu1108Ter)
n.577-2428C>A
c.*3622-2428C>A (n.*3622-2428C>A)
c.4036G>T (p.Glu1346Ter)
c.3160G>T (p.Glu1054Ter)
c.2509G>T (p.Glu837Ter)
c.2113G>T (p.Glu705Ter)
c.1855G>T (p.Glu619Ter)
c.3133G>T (p.Glu1045Ter)
10g.75029023A>CCA377296405DUSP29,KAT6Bc.4199A>C (p.Glu1400Ala)
c.3650A>C (p.Glu1217Ala)
c.3323A>C (p.Glu1108Ala)
n.577-2429T>G
c.*3622-2429T>G (n.*3622-2429T>G)
c.4037A>C (p.Glu1346Ala)
c.3161A>C (p.Glu1054Ala)
c.2510A>C (p.Glu837Ala)
c.2114A>C (p.Glu705Ala)
c.1856A>C (p.Glu619Ala)
c.3134A>C (p.Glu1045Ala)
10g.75029023A>GCA377296407DUSP29,KAT6Bc.4199A>G (p.Glu1400Gly)
c.3650A>G (p.Glu1217Gly)
c.3323A>G (p.Glu1108Gly)
n.577-2429T>C
c.*3622-2429T>C (n.*3622-2429T>C)
c.4037A>G (p.Glu1346Gly)
c.3161A>G (p.Glu1054Gly)
c.2510A>G (p.Glu837Gly)
c.2114A>G (p.Glu705Gly)
c.1856A>G (p.Glu619Gly)
c.3134A>G (p.Glu1045Gly)
10g.75029023A>TCA377296409DUSP29,KAT6Bc.4199A>T (p.Glu1400Val)
c.3650A>T (p.Glu1217Val)
c.3323A>T (p.Glu1108Val)
n.577-2429T>A
c.*3622-2429T>A (n.*3622-2429T>A)
c.4037A>T (p.Glu1346Val)
c.3161A>T (p.Glu1054Val)
c.2510A>T (p.Glu837Val)
c.2114A>T (p.Glu705Val)
c.1856A>T (p.Glu619Val)
c.3134A>T (p.Glu1045Val)
10g.75029024A>CCA377296411DUSP29,KAT6Bc.4200A>C (p.Glu1400Asp)
c.3651A>C (p.Glu1217Asp)
c.3324A>C (p.Glu1108Asp)
n.577-2430T>G
c.*3622-2430T>G (n.*3622-2430T>G)
c.4038A>C (p.Glu1346Asp)
c.3162A>C (p.Glu1054Asp)
c.2511A>C (p.Glu837Asp)
c.2115A>C (p.Glu705Asp)
c.1857A>C (p.Glu619Asp)
c.3135A>C (p.Glu1045Asp)
10g.75029024A>GCA470299833DUSP29,KAT6Bc.4200A>G (p.Glu1400=)
c.3651A>G (p.Glu1217=)
c.3324A>G (p.Glu1108=)
n.577-2430T>C
c.*3622-2430T>C (n.*3622-2430T>C)
c.4038A>G (p.Glu1346=)
c.3162A>G (p.Glu1054=)
c.2511A>G (p.Glu837=)
c.2115A>G (p.Glu705=)
c.1857A>G (p.Glu619=)
c.3135A>G (p.Glu1045=)
 gnomAD v4
10g.75029024A>TCA377296412DUSP29,KAT6Bc.4200A>T (p.Glu1400Asp)
c.3651A>T (p.Glu1217Asp)
c.3324A>T (p.Glu1108Asp)
n.577-2430T>A
c.*3622-2430T>A (n.*3622-2430T>A)
c.4038A>T (p.Glu1346Asp)
c.3162A>T (p.Glu1054Asp)
c.2511A>T (p.Glu837Asp)
c.2115A>T (p.Glu705Asp)
c.1857A>T (p.Glu619Asp)
c.3135A>T (p.Glu1045Asp)
10g.75029025G>ACA377296419DUSP29,KAT6Bc.4201G>A (p.Asp1401Asn)
c.3652G>A (p.Asp1218Asn)
c.3325G>A (p.Asp1109Asn)
n.577-2431C>T
c.*3622-2431C>T (n.*3622-2431C>T)
c.4039G>A (p.Asp1347Asn)
c.3163G>A (p.Asp1055Asn)
c.2512G>A (p.Asp838Asn)
c.2116G>A (p.Asp706Asn)
c.1858G>A (p.Asp620Asn)
c.3136G>A (p.Asp1046Asn)
10g.75029025G>CCA377296417DUSP29,KAT6Bc.4201G>C (p.Asp1401His)
c.3652G>C (p.Asp1218His)
c.3325G>C (p.Asp1109His)
n.577-2431C>G
c.*3622-2431C>G (n.*3622-2431C>G)
c.4039G>C (p.Asp1347His)
c.3163G>C (p.Asp1055His)
c.2512G>C (p.Asp838His)
c.2116G>C (p.Asp706His)
c.1858G>C (p.Asp620His)
c.3136G>C (p.Asp1046His)
 dbSNP
10g.75029025G=CA1920306570DUSP29,KAT6Bc.4201G= (p.Asp1401=)
c.3652G= (p.Asp1218=)
c.3325G= (p.Asp1109=)
n.577-2431C=
c.*3622-2431C= (n.*3622-2431C=)
c.4039G= (p.Asp1347=)
c.3163G= (p.Asp1055=)
c.2512G= (p.Asp838=)
c.2116G= (p.Asp706=)
c.1858G= (p.Asp620=)
c.3136G= (p.Asp1046=)
10g.75029025G>TCA377296416DUSP29,KAT6Bc.4201G>T (p.Asp1401Tyr)
c.3652G>T (p.Asp1218Tyr)
c.3325G>T (p.Asp1109Tyr)
n.577-2431C>A
c.*3622-2431C>A (n.*3622-2431C>A)
c.4039G>T (p.Asp1347Tyr)
c.3163G>T (p.Asp1055Tyr)
c.2512G>T (p.Asp838Tyr)
c.2116G>T (p.Asp706Tyr)
c.1858G>T (p.Asp620Tyr)
c.3136G>T (p.Asp1046Tyr)
 gnomAD v4
10g.75029026A>CCA377296422DUSP29,KAT6Bc.4202A>C (p.Asp1401Ala)
c.3653A>C (p.Asp1218Ala)
c.3326A>C (p.Asp1109Ala)
n.577-2432T>G
c.*3622-2432T>G (n.*3622-2432T>G)
c.4040A>C (p.Asp1347Ala)
c.3164A>C (p.Asp1055Ala)
c.2513A>C (p.Asp838Ala)
c.2117A>C (p.Asp706Ala)
c.1859A>C (p.Asp620Ala)
c.3137A>C (p.Asp1046Ala)
10g.75029026A>GCA377296423DUSP29,KAT6Bc.4202A>G (p.Asp1401Gly)
c.3653A>G (p.Asp1218Gly)
c.3326A>G (p.Asp1109Gly)
n.577-2432T>C
c.*3622-2432T>C (n.*3622-2432T>C)
c.4040A>G (p.Asp1347Gly)
c.3164A>G (p.Asp1055Gly)
c.2513A>G (p.Asp838Gly)
c.2117A>G (p.Asp706Gly)
c.1859A>G (p.Asp620Gly)
c.3137A>G (p.Asp1046Gly)
10g.75029026A>TCA377296424DUSP29,KAT6Bc.4202A>T (p.Asp1401Val)
c.3653A>T (p.Asp1218Val)
c.3326A>T (p.Asp1109Val)
n.577-2432T>A
c.*3622-2432T>A (n.*3622-2432T>A)
c.4040A>T (p.Asp1347Val)
c.3164A>T (p.Asp1055Val)
c.2513A>T (p.Asp838Val)
c.2117A>T (p.Asp706Val)
c.1859A>T (p.Asp620Val)
c.3137A>T (p.Asp1046Val)
10g.75029026_75029028delinsACTCA1920306571DUSP29,KAT6Bc.4202_4204delinsACT (p.Asp1401=)
c.3653_3655delinsACT (p.Asp1218=)
c.3326_3328delinsACT (p.Asp1109=)
n.577-2434_577-2432delinsAGT
c.*3622-2434_*3622-2432delinsAGT (n.*3622-2434_*3622-2432delinsAGT)
c.4040_4042delinsACT (p.Asp1347=)
c.3164_3166delinsACT (p.Asp1055=)
c.2513_2515delinsACT (p.Asp838=)
c.2117_2119delinsACT (p.Asp706=)
c.1859_1861delinsACT (p.Asp620=)
c.3137_3139delinsACT (p.Asp1046=)
10g.75029027C>ACA377296425DUSP29,KAT6Bc.4203C>A (p.Asp1401Glu)
c.3654C>A (p.Asp1218Glu)
c.3327C>A (p.Asp1109Glu)
n.577-2433G>T
c.*3622-2433G>T (n.*3622-2433G>T)
c.4041C>A (p.Asp1347Glu)
c.3165C>A (p.Asp1055Glu)
c.2514C>A (p.Asp838Glu)
c.2118C>A (p.Asp706Glu)
c.1860C>A (p.Asp620Glu)
c.3138C>A (p.Asp1046Glu)
10g.75029027C=CA1920306572DUSP29,KAT6Bc.4203C= (p.Asp1401=)
c.3654C= (p.Asp1218=)
c.3327C= (p.Asp1109=)
n.577-2433G=
c.*3622-2433G= (n.*3622-2433G=)
c.4041C= (p.Asp1347=)
c.3165C= (p.Asp1055=)
c.2514C= (p.Asp838=)
c.2118C= (p.Asp706=)
c.1860C= (p.Asp620=)
c.3138C= (p.Asp1046=)
10g.75029027C>GCA377296426DUSP29,KAT6Bc.4203C>G (p.Asp1401Glu)
c.3654C>G (p.Asp1218Glu)
c.3327C>G (p.Asp1109Glu)
n.577-2433G>C
c.*3622-2433G>C (n.*3622-2433G>C)
c.4041C>G (p.Asp1347Glu)
c.3165C>G (p.Asp1055Glu)
c.2514C>G (p.Asp838Glu)
c.2118C>G (p.Asp706Glu)
c.1860C>G (p.Asp620Glu)
c.3138C>G (p.Asp1046Glu)
10g.75029027C>TCA5564990DUSP29,KAT6Bc.4203C>T (p.Asp1401=)
c.3654C>T (p.Asp1218=)
c.3327C>T (p.Asp1109=)
n.577-2433G>A
c.*3622-2433G>A (n.*3622-2433G>A)
c.4041C>T (p.Asp1347=)
c.3165C>T (p.Asp1055=)
c.2514C>T (p.Asp838=)
c.2118C>T (p.Asp706=)
c.1860C>T (p.Asp620=)
c.3138C>T (p.Asp1046=)
 dbSNP ExAC gnomAD v2
10g.75029029_75029030delCA232611DUSP29,KAT6Bc.4205_4206del (p.Ser1402CysfsTer5)
c.3656_3657del (p.Ser1219CysfsTer5)
c.3329_3330del (p.Ser1110CysfsTer5)
n.577-2434_577-2433del
c.*3622-2434_*3622-2433del (n.*3622-2434_*3622-2433del)
c.4043_4044del (p.Ser1348CysfsTer5)
c.3167_3168del (p.Ser1056CysfsTer5)
c.2516_2517del (p.Ser839CysfsTer5)
c.2120_2121del (p.Ser707CysfsTer5)
c.1862_1863del (p.Ser621CysfsTer5)
c.3140_3141del (p.Ser1047CysfsTer5)
 ClinVar dbSNP COSMIC
10g.75029028T>ACA377296429DUSP29,KAT6Bc.4204T>A (p.Ser1402Thr)
c.3655T>A (p.Ser1219Thr)
c.3328T>A (p.Ser1110Thr)
n.577-2434A>T
c.*3622-2434A>T (n.*3622-2434A>T)
c.4042T>A (p.Ser1348Thr)
c.3166T>A (p.Ser1056Thr)
c.2515T>A (p.Ser839Thr)
c.2119T>A (p.Ser707Thr)
c.1861T>A (p.Ser621Thr)
c.3139T>A (p.Ser1047Thr)
10g.75029028T>CCA377296427DUSP29,KAT6Bc.4204T>C (p.Ser1402Pro)
c.3655T>C (p.Ser1219Pro)
c.3328T>C (p.Ser1110Pro)
n.577-2434A>G
c.*3622-2434A>G (n.*3622-2434A>G)
c.4042T>C (p.Ser1348Pro)
c.3166T>C (p.Ser1056Pro)
c.2515T>C (p.Ser839Pro)
c.2119T>C (p.Ser707Pro)
c.1861T>C (p.Ser621Pro)
c.3139T>C (p.Ser1047Pro)
10g.75029028T>GCA377296428DUSP29,KAT6Bc.4204T>G (p.Ser1402Ala)
c.3655T>G (p.Ser1219Ala)
c.3328T>G (p.Ser1110Ala)
n.577-2434A>C
c.*3622-2434A>C (n.*3622-2434A>C)
c.4042T>G (p.Ser1348Ala)
c.3166T>G (p.Ser1056Ala)
c.2515T>G (p.Ser839Ala)
c.2119T>G (p.Ser707Ala)
c.1861T>G (p.Ser621Ala)
c.3139T>G (p.Ser1047Ala)
10g.75029029C>ACA377296430DUSP29,KAT6Bc.4205C>A (p.Ser1402Tyr)
c.3656C>A (p.Ser1219Tyr)
c.3329C>A (p.Ser1110Tyr)
n.577-2435G>T
c.*3622-2435G>T (n.*3622-2435G>T)
c.4043C>A (p.Ser1348Tyr)
c.3167C>A (p.Ser1056Tyr)
c.2516C>A (p.Ser839Tyr)
c.2120C>A (p.Ser707Tyr)
c.1862C>A (p.Ser621Tyr)
c.3140C>A (p.Ser1047Tyr)
10g.75029029C>GCA377296431DUSP29,KAT6Bc.4205C>G (p.Ser1402Cys)
c.3656C>G (p.Ser1219Cys)
c.3329C>G (p.Ser1110Cys)
n.577-2435G>C
c.*3622-2435G>C (n.*3622-2435G>C)
c.4043C>G (p.Ser1348Cys)
c.3167C>G (p.Ser1056Cys)
c.2516C>G (p.Ser839Cys)
c.2120C>G (p.Ser707Cys)
c.1862C>G (p.Ser621Cys)
c.3140C>G (p.Ser1047Cys)
10g.75029029C>TCA377296432DUSP29,KAT6Bc.4205C>T (p.Ser1402Phe)
c.3656C>T (p.Ser1219Phe)
c.3329C>T (p.Ser1110Phe)
n.577-2435G>A
c.*3622-2435G>A (n.*3622-2435G>A)
c.4043C>T (p.Ser1348Phe)
c.3167C>T (p.Ser1056Phe)
c.2516C>T (p.Ser839Phe)
c.2120C>T (p.Ser707Phe)
c.1862C>T (p.Ser621Phe)
c.3140C>T (p.Ser1047Phe)
10g.75029030T>ACA470299843DUSP29,KAT6Bc.4206T>A (p.Ser1402=)
c.3657T>A (p.Ser1219=)
c.3330T>A (p.Ser1110=)
n.577-2436A>T
c.*3622-2436A>T (n.*3622-2436A>T)
c.4044T>A (p.Ser1348=)
c.3168T>A (p.Ser1056=)
c.2517T>A (p.Ser839=)
c.2121T>A (p.Ser707=)
c.1863T>A (p.Ser621=)
c.3141T>A (p.Ser1047=)
10g.75029030T>CCA5564991DUSP29,KAT6Bc.4206T>C (p.Ser1402=)
c.3657T>C (p.Ser1219=)
c.3330T>C (p.Ser1110=)
n.577-2436A>G
c.*3622-2436A>G (n.*3622-2436A>G)
c.4044T>C (p.Ser1348=)
c.3168T>C (p.Ser1056=)
c.2517T>C (p.Ser839=)
c.2121T>C (p.Ser707=)
c.1863T>C (p.Ser621=)
c.3141T>C (p.Ser1047=)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.75029030T>GCA470299844DUSP29,KAT6Bc.4206T>G (p.Ser1402=)
c.3657T>G (p.Ser1219=)
c.3330T>G (p.Ser1110=)
n.577-2436A>C
c.*3622-2436A>C (n.*3622-2436A>C)
c.4044T>G (p.Ser1348=)
c.3168T>G (p.Ser1056=)
c.2517T>G (p.Ser839=)
c.2121T>G (p.Ser707=)
c.1863T>G (p.Ser621=)
c.3141T>G (p.Ser1047=)
10g.75029030T=CA1920306573DUSP29,KAT6Bc.4206T= (p.Ser1402=)
c.3657T= (p.Ser1219=)
c.3330T= (p.Ser1110=)
n.577-2436A=
c.*3622-2436A= (n.*3622-2436A=)
c.4044T= (p.Ser1348=)
c.3168T= (p.Ser1056=)
c.2517T= (p.Ser839=)
c.2121T= (p.Ser707=)
c.1863T= (p.Ser621=)
c.3141T= (p.Ser1047=)
10g.75029031G>ACA377296433DUSP29,KAT6Bc.4207G>A (p.Ala1403Thr)
c.3658G>A (p.Ala1220Thr)
c.3331G>A (p.Ala1111Thr)
n.577-2437C>T
c.*3622-2437C>T (n.*3622-2437C>T)
c.4045G>A (p.Ala1349Thr)
c.3169G>A (p.Ala1057Thr)
c.2518G>A (p.Ala840Thr)
c.2122G>A (p.Ala708Thr)
c.1864G>A (p.Ala622Thr)
c.3142G>A (p.Ala1048Thr)
10g.75029031G>CCA377296435DUSP29,KAT6Bc.4207G>C (p.Ala1403Pro)
c.3658G>C (p.Ala1220Pro)
c.3331G>C (p.Ala1111Pro)
n.577-2437C>G
c.*3622-2437C>G (n.*3622-2437C>G)
c.4045G>C (p.Ala1349Pro)
c.3169G>C (p.Ala1057Pro)
c.2518G>C (p.Ala840Pro)
c.2122G>C (p.Ala708Pro)
c.1864G>C (p.Ala622Pro)
c.3142G>C (p.Ala1048Pro)
 gnomAD v4
10g.75029031G>TCA377296434DUSP29,KAT6Bc.4207G>T (p.Ala1403Ser)
c.3658G>T (p.Ala1220Ser)
c.3331G>T (p.Ala1111Ser)
n.577-2437C>A
c.*3622-2437C>A (n.*3622-2437C>A)
c.4045G>T (p.Ala1349Ser)
c.3169G>T (p.Ala1057Ser)
c.2518G>T (p.Ala840Ser)
c.2122G>T (p.Ala708Ser)
c.1864G>T (p.Ala622Ser)
c.3142G>T (p.Ala1048Ser)
10g.75029032C>ACA377296436DUSP29,KAT6Bc.4208C>A (p.Ala1403Glu)
c.3659C>A (p.Ala1220Glu)
c.3332C>A (p.Ala1111Glu)
n.577-2438G>T
c.*3622-2438G>T (n.*3622-2438G>T)
c.4046C>A (p.Ala1349Glu)
c.3170C>A (p.Ala1057Glu)
c.2519C>A (p.Ala840Glu)
c.2123C>A (p.Ala708Glu)
c.1865C>A (p.Ala622Glu)
c.3143C>A (p.Ala1048Glu)
10g.75029032C=CA1920306574DUSP29,KAT6Bc.4208C= (p.Ala1403=)
c.3659C= (p.Ala1220=)
c.3332C= (p.Ala1111=)
n.577-2438G=
c.*3622-2438G= (n.*3622-2438G=)
c.4046C= (p.Ala1349=)
c.3170C= (p.Ala1057=)
c.2519C= (p.Ala840=)
c.2123C= (p.Ala708=)
c.1865C= (p.Ala622=)
c.3143C= (p.Ala1048=)
10g.75029032C>GCA377296437DUSP29,KAT6Bc.4208C>G (p.Ala1403Gly)
c.3659C>G (p.Ala1220Gly)
c.3332C>G (p.Ala1111Gly)
n.577-2438G>C
c.*3622-2438G>C (n.*3622-2438G>C)
c.4046C>G (p.Ala1349Gly)
c.3170C>G (p.Ala1057Gly)
c.2519C>G (p.Ala840Gly)
c.2123C>G (p.Ala708Gly)
c.1865C>G (p.Ala622Gly)
c.3143C>G (p.Ala1048Gly)
10g.75029032C>TCA377296438DUSP29,KAT6Bc.4208C>T (p.Ala1403Val)
c.3659C>T (p.Ala1220Val)
c.3332C>T (p.Ala1111Val)
n.577-2438G>A
c.*3622-2438G>A (n.*3622-2438G>A)
c.4046C>T (p.Ala1349Val)
c.3170C>T (p.Ala1057Val)
c.2519C>T (p.Ala840Val)
c.2123C>T (p.Ala708Val)
c.1865C>T (p.Ala622Val)
c.3143C>T (p.Ala1048Val)
 ClinVar dbSNP gnomAD v4
10g.75029033A>CCA470299845DUSP29,KAT6Bc.4209A>C (p.Ala1403=)
c.3660A>C (p.Ala1220=)
c.3333A>C (p.Ala1111=)
n.577-2439T>G
c.*3622-2439T>G (n.*3622-2439T>G)
c.4047A>C (p.Ala1349=)
c.3171A>C (p.Ala1057=)
c.2520A>C (p.Ala840=)
c.2124A>C (p.Ala708=)
c.1866A>C (p.Ala622=)
c.3144A>C (p.Ala1048=)
10g.75029033A>GCA470299846DUSP29,KAT6Bc.4209A>G (p.Ala1403=)
c.3660A>G (p.Ala1220=)
c.3333A>G (p.Ala1111=)
n.577-2439T>C
c.*3622-2439T>C (n.*3622-2439T>C)
c.4047A>G (p.Ala1349=)
c.3171A>G (p.Ala1057=)
c.2520A>G (p.Ala840=)
c.2124A>G (p.Ala708=)
c.1866A>G (p.Ala622=)
c.3144A>G (p.Ala1048=)
10g.75029033A>TCA470299847DUSP29,KAT6Bc.4209A>T (p.Ala1403=)
c.3660A>T (p.Ala1220=)
c.3333A>T (p.Ala1111=)
n.577-2439T>A
c.*3622-2439T>A (n.*3622-2439T>A)
c.4047A>T (p.Ala1349=)
c.3171A>T (p.Ala1057=)
c.2520A>T (p.Ala840=)
c.2124A>T (p.Ala708=)
c.1866A>T (p.Ala622=)
c.3144A>T (p.Ala1048=)
10g.75029034C>ACA377296439DUSP29,KAT6Bc.4210C>A (p.Arg1404Ser)
c.3661C>A (p.Arg1221Ser)
c.3334C>A (p.Arg1112Ser)
n.577-2440G>T
c.*3622-2440G>T (n.*3622-2440G>T)
c.4048C>A (p.Arg1350Ser)
c.3172C>A (p.Arg1058Ser)
c.2521C>A (p.Arg841Ser)
c.2125C>A (p.Arg709Ser)
c.1867C>A (p.Arg623Ser)
c.3145C>A (p.Arg1049Ser)
10g.75029034C=CA1920306575DUSP29,KAT6Bc.4210C= (p.Arg1404=)
c.3661C= (p.Arg1221=)
c.3334C= (p.Arg1112=)
n.577-2440G=
c.*3622-2440G= (n.*3622-2440G=)
c.4048C= (p.Arg1350=)
c.3172C= (p.Arg1058=)
c.2521C= (p.Arg841=)
c.2125C= (p.Arg709=)
c.1867C= (p.Arg623=)
c.3145C= (p.Arg1049=)
10g.75029034C>GCA377296440DUSP29,KAT6Bc.4210C>G (p.Arg1404Gly)
c.3661C>G (p.Arg1221Gly)
c.3334C>G (p.Arg1112Gly)
n.577-2440G>C
c.*3622-2440G>C (n.*3622-2440G>C)
c.4048C>G (p.Arg1350Gly)
c.3172C>G (p.Arg1058Gly)
c.2521C>G (p.Arg841Gly)
c.2125C>G (p.Arg709Gly)
c.1867C>G (p.Arg623Gly)
c.3145C>G (p.Arg1049Gly)
10g.75029034C>TCA5564992DUSP29,KAT6Bc.4210C>T (p.Arg1404Cys)
c.3661C>T (p.Arg1221Cys)
c.3334C>T (p.Arg1112Cys)
n.577-2440G>A
c.*3622-2440G>A (n.*3622-2440G>A)
c.4048C>T (p.Arg1350Cys)
c.3172C>T (p.Arg1058Cys)
c.2521C>T (p.Arg841Cys)
c.2125C>T (p.Arg709Cys)
c.1867C>T (p.Arg623Cys)
c.3145C>T (p.Arg1049Cys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.75029035G>ACA5564993DUSP29,KAT6Bc.4211G>A (p.Arg1404His)
c.3662G>A (p.Arg1221His)
c.3335G>A (p.Arg1112His)
n.577-2441C>T
c.*3622-2441C>T (n.*3622-2441C>T)
c.4049G>A (p.Arg1350His)
c.3173G>A (p.Arg1058His)
c.2522G>A (p.Arg841His)
c.2126G>A (p.Arg709His)
c.1868G>A (p.Arg623His)
c.3146G>A (p.Arg1049His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.75029035G>CCA377296441DUSP29,KAT6Bc.4211G>C (p.Arg1404Pro)
c.3662G>C (p.Arg1221Pro)
c.3335G>C (p.Arg1112Pro)
n.577-2441C>G
c.*3622-2441C>G (n.*3622-2441C>G)
c.4049G>C (p.Arg1350Pro)
c.3173G>C (p.Arg1058Pro)
c.2522G>C (p.Arg841Pro)
c.2126G>C (p.Arg709Pro)
c.1868G>C (p.Arg623Pro)
c.3146G>C (p.Arg1049Pro)
 gnomAD v4
10g.75029035G=CA1920306576DUSP29,KAT6Bc.4211G= (p.Arg1404=)
c.3662G= (p.Arg1221=)
c.3335G= (p.Arg1112=)
n.577-2441C=
c.*3622-2441C= (n.*3622-2441C=)
c.4049G= (p.Arg1350=)
c.3173G= (p.Arg1058=)
c.2522G= (p.Arg841=)
c.2126G= (p.Arg709=)
c.1868G= (p.Arg623=)
c.3146G= (p.Arg1049=)
10g.75029035G>TCA377296442DUSP29,KAT6Bc.4211G>T (p.Arg1404Leu)
c.3662G>T (p.Arg1221Leu)
c.3335G>T (p.Arg1112Leu)
n.577-2441C>A
c.*3622-2441C>A (n.*3622-2441C>A)
c.4049G>T (p.Arg1350Leu)
c.3173G>T (p.Arg1058Leu)
c.2522G>T (p.Arg841Leu)
c.2126G>T (p.Arg709Leu)
c.1868G>T (p.Arg623Leu)
c.3146G>T (p.Arg1049Leu)
 ClinVar dbSNP
10g.75029036T>ACA470299849DUSP29,KAT6Bc.4212T>A (p.Arg1404=)
c.3663T>A (p.Arg1221=)
c.3336T>A (p.Arg1112=)
n.577-2442A>T
c.*3622-2442A>T (n.*3622-2442A>T)
c.4050T>A (p.Arg1350=)
c.3174T>A (p.Arg1058=)
c.2523T>A (p.Arg841=)
c.2127T>A (p.Arg709=)
c.1869T>A (p.Arg623=)
c.3147T>A (p.Arg1049=)
10g.75029036T>CCA470299850DUSP29,KAT6Bc.4212T>C (p.Arg1404=)
c.3663T>C (p.Arg1221=)
c.3336T>C (p.Arg1112=)
n.577-2442A>G
c.*3622-2442A>G (n.*3622-2442A>G)
c.4050T>C (p.Arg1350=)
c.3174T>C (p.Arg1058=)
c.2523T>C (p.Arg841=)
c.2127T>C (p.Arg709=)
c.1869T>C (p.Arg623=)
c.3147T>C (p.Arg1049=)
10g.75029036T>GCA470299851DUSP29,KAT6Bc.4212T>G (p.Arg1404=)
c.3663T>G (p.Arg1221=)
c.3336T>G (p.Arg1112=)
n.577-2442A>C
c.*3622-2442A>C (n.*3622-2442A>C)
c.4050T>G (p.Arg1350=)
c.3174T>G (p.Arg1058=)
c.2523T>G (p.Arg841=)
c.2127T>G (p.Arg709=)
c.1869T>G (p.Arg623=)
c.3147T>G (p.Arg1049=)
10g.75029037T>ACA377296443DUSP29,KAT6Bc.4213T>A (p.Leu1405Met)
c.3664T>A (p.Leu1222Met)
c.3337T>A (p.Leu1113Met)
n.577-2443A>T
c.*3622-2443A>T (n.*3622-2443A>T)
c.4051T>A (p.Leu1351Met)
c.3175T>A (p.Leu1059Met)
c.2524T>A (p.Leu842Met)
c.2128T>A (p.Leu710Met)
c.1870T>A (p.Leu624Met)
c.3148T>A (p.Leu1050Met)
10g.75029037T>CCA470299852DUSP29,KAT6Bc.4213T>C (p.Leu1405=)
c.3664T>C (p.Leu1222=)
c.3337T>C (p.Leu1113=)
n.577-2443A>G
c.*3622-2443A>G (n.*3622-2443A>G)
c.4051T>C (p.Leu1351=)
c.3175T>C (p.Leu1059=)
c.2524T>C (p.Leu842=)
c.2128T>C (p.Leu710=)
c.1870T>C (p.Leu624=)
c.3148T>C (p.Leu1050=)
 gnomAD v4
10g.75029037T>GCA377296444DUSP29,KAT6Bc.4213T>G (p.Leu1405Val)
c.3664T>G (p.Leu1222Val)
c.3337T>G (p.Leu1113Val)
n.577-2443A>C
c.*3622-2443A>C (n.*3622-2443A>C)
c.4051T>G (p.Leu1351Val)
c.3175T>G (p.Leu1059Val)
c.2524T>G (p.Leu842Val)
c.2128T>G (p.Leu710Val)
c.1870T>G (p.Leu624Val)
c.3148T>G (p.Leu1050Val)
10g.75029038T>ACA377296447DUSP29,KAT6Bc.4214T>A (p.Leu1405Ter)
c.3665T>A (p.Leu1222Ter)
c.3338T>A (p.Leu1113Ter)
n.577-2444A>T
c.*3622-2444A>T (n.*3622-2444A>T)
c.4052T>A (p.Leu1351Ter)
c.3176T>A (p.Leu1059Ter)
c.2525T>A (p.Leu842Ter)
c.2129T>A (p.Leu710Ter)
c.1871T>A (p.Leu624Ter)
c.3149T>A (p.Leu1050Ter)
10g.75029038T>CCA377296446DUSP29,KAT6Bc.4214T>C (p.Leu1405Ser)
c.3665T>C (p.Leu1222Ser)
c.3338T>C (p.Leu1113Ser)
n.577-2444A>G
c.*3622-2444A>G (n.*3622-2444A>G)
c.4052T>C (p.Leu1351Ser)
c.3176T>C (p.Leu1059Ser)
c.2525T>C (p.Leu842Ser)
c.2129T>C (p.Leu710Ser)
c.1871T>C (p.Leu624Ser)
c.3149T>C (p.Leu1050Ser)
 dbSNP
10g.75029038T>GCA377296445DUSP29,KAT6Bc.4214T>G (p.Leu1405Trp)
c.3665T>G (p.Leu1222Trp)
c.3338T>G (p.Leu1113Trp)
n.577-2444A>C
c.*3622-2444A>C (n.*3622-2444A>C)
c.4052T>G (p.Leu1351Trp)
c.3176T>G (p.Leu1059Trp)
c.2525T>G (p.Leu842Trp)
c.2129T>G (p.Leu710Trp)
c.1871T>G (p.Leu624Trp)
c.3149T>G (p.Leu1050Trp)
10g.75029038T=CA1920306577DUSP29,KAT6Bc.4214T= (p.Leu1405=)
c.3665T= (p.Leu1222=)
c.3338T= (p.Leu1113=)
n.577-2444A=
c.*3622-2444A= (n.*3622-2444A=)
c.4052T= (p.Leu1351=)
c.3176T= (p.Leu1059=)
c.2525T= (p.Leu842=)
c.2129T= (p.Leu710=)
c.1871T= (p.Leu624=)
c.3149T= (p.Leu1050=)
10g.75029039G>ACA470299856DUSP29,KAT6Bc.4215G>A (p.Leu1405=)
c.3666G>A (p.Leu1222=)
c.3339G>A (p.Leu1113=)
n.577-2445C>T
c.*3622-2445C>T (n.*3622-2445C>T)
c.4053G>A (p.Leu1351=)
c.3177G>A (p.Leu1059=)
c.2526G>A (p.Leu842=)
c.2130G>A (p.Leu710=)
c.1872G>A (p.Leu624=)
c.3150G>A (p.Leu1050=)
10g.75029039G>CCA377296449DUSP29,KAT6Bc.4215G>C (p.Leu1405Phe)
c.3666G>C (p.Leu1222Phe)
c.3339G>C (p.Leu1113Phe)
n.577-2445C>G
c.*3622-2445C>G (n.*3622-2445C>G)
c.4053G>C (p.Leu1351Phe)
c.3177G>C (p.Leu1059Phe)
c.2526G>C (p.Leu842Phe)
c.2130G>C (p.Leu710Phe)
c.1872G>C (p.Leu624Phe)
c.3150G>C (p.Leu1050Phe)
10g.75029039G>TCA377296448DUSP29,KAT6Bc.4215G>T (p.Leu1405Phe)
c.3666G>T (p.Leu1222Phe)
c.3339G>T (p.Leu1113Phe)
n.577-2445C>A
c.*3622-2445C>A (n.*3622-2445C>A)
c.4053G>T (p.Leu1351Phe)
c.3177G>T (p.Leu1059Phe)
c.2526G>T (p.Leu842Phe)
c.2130G>T (p.Leu710Phe)
c.1872G>T (p.Leu624Phe)
c.3150G>T (p.Leu1050Phe)
10g.75029040G>ACA377296451DUSP29,KAT6Bc.4216G>A (p.Asp1406Asn)
c.3667G>A (p.Asp1223Asn)
c.3340G>A (p.Asp1114Asn)
n.577-2446C>T
c.*3622-2446C>T (n.*3622-2446C>T)
c.4054G>A (p.Asp1352Asn)
c.3178G>A (p.Asp1060Asn)
c.2527G>A (p.Asp843Asn)
c.2131G>A (p.Asp711Asn)
c.1873G>A (p.Asp625Asn)
c.3151G>A (p.Asp1051Asn)
10g.75029040G>CCA377296450DUSP29,KAT6Bc.4216G>C (p.Asp1406His)
c.3667G>C (p.Asp1223His)
c.3340G>C (p.Asp1114His)
n.577-2446C>G
c.*3622-2446C>G (n.*3622-2446C>G)
c.4054G>C (p.Asp1352His)
c.3178G>C (p.Asp1060His)
c.2527G>C (p.Asp843His)
c.2131G>C (p.Asp711His)
c.1873G>C (p.Asp625His)
c.3151G>C (p.Asp1051His)
10g.75029040G>TCA377296452DUSP29,KAT6Bc.4216G>T (p.Asp1406Tyr)
c.3667G>T (p.Asp1223Tyr)
c.3340G>T (p.Asp1114Tyr)
n.577-2446C>A
c.*3622-2446C>A (n.*3622-2446C>A)
c.4054G>T (p.Asp1352Tyr)
c.3178G>T (p.Asp1060Tyr)
c.2527G>T (p.Asp843Tyr)
c.2131G>T (p.Asp711Tyr)
c.1873G>T (p.Asp625Tyr)
c.3151G>T (p.Asp1051Tyr)
10g.75029041A=CA1920306578DUSP29,KAT6Bc.4217A= (p.Asp1406=)
c.3668A= (p.Asp1223=)
c.3341A= (p.Asp1114=)
n.577-2447T=
c.*3622-2447T= (n.*3622-2447T=)
c.4055A= (p.Asp1352=)
c.3179A= (p.Asp1060=)
c.2528A= (p.Asp843=)
c.2132A= (p.Asp711=)
c.1874A= (p.Asp625=)
c.3152A= (p.Asp1051=)
10g.75029041A>CCA377296453DUSP29,KAT6Bc.4217A>C (p.Asp1406Ala)
c.3668A>C (p.Asp1223Ala)
c.3341A>C (p.Asp1114Ala)
n.577-2447T>G
c.*3622-2447T>G (n.*3622-2447T>G)
c.4055A>C (p.Asp1352Ala)
c.3179A>C (p.Asp1060Ala)
c.2528A>C (p.Asp843Ala)
c.2132A>C (p.Asp711Ala)
c.1874A>C (p.Asp625Ala)
c.3152A>C (p.Asp1051Ala)
10g.75029041A>GCA5564994DUSP29,KAT6Bc.4217A>G (p.Asp1406Gly)
c.3668A>G (p.Asp1223Gly)
c.3341A>G (p.Asp1114Gly)
n.577-2447T>C
c.*3622-2447T>C (n.*3622-2447T>C)
c.4055A>G (p.Asp1352Gly)
c.3179A>G (p.Asp1060Gly)
c.2528A>G (p.Asp843Gly)
c.2132A>G (p.Asp711Gly)
c.1874A>G (p.Asp625Gly)
c.3152A>G (p.Asp1051Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
10g.75029041A>TCA377296454DUSP29,KAT6Bc.4217A>T (p.Asp1406Val)
c.3668A>T (p.Asp1223Val)
c.3341A>T (p.Asp1114Val)
n.577-2447T>A
c.*3622-2447T>A (n.*3622-2447T>A)
c.4055A>T (p.Asp1352Val)
c.3179A>T (p.Asp1060Val)
c.2528A>T (p.Asp843Val)
c.2132A>T (p.Asp711Val)
c.1874A>T (p.Asp625Val)
c.3152A>T (p.Asp1051Val)
10g.75029042T>ACA377296455DUSP29,KAT6Bc.4218T>A (p.Asp1406Glu)
c.3669T>A (p.Asp1223Glu)
c.3342T>A (p.Asp1114Glu)
n.577-2448A>T
c.*3622-2448A>T (n.*3622-2448A>T)
c.4056T>A (p.Asp1352Glu)
c.3180T>A (p.Asp1060Glu)
c.2529T>A (p.Asp843Glu)
c.2133T>A (p.Asp711Glu)
c.1875T>A (p.Asp625Glu)
c.3153T>A (p.Asp1051Glu)
10g.75029042T>CCA470299861DUSP29,KAT6Bc.4218T>C (p.Asp1406=)
c.3669T>C (p.Asp1223=)
c.3342T>C (p.Asp1114=)
n.577-2448A>G
c.*3622-2448A>G (n.*3622-2448A>G)
c.4056T>C (p.Asp1352=)
c.3180T>C (p.Asp1060=)
c.2529T>C (p.Asp843=)
c.2133T>C (p.Asp711=)
c.1875T>C (p.Asp625=)
c.3153T>C (p.Asp1051=)
10g.75029042T>GCA377296456DUSP29,KAT6Bc.4218T>G (p.Asp1406Glu)
c.3669T>G (p.Asp1223Glu)
c.3342T>G (p.Asp1114Glu)
n.577-2448A>C
c.*3622-2448A>C (n.*3622-2448A>C)
c.4056T>G (p.Asp1352Glu)
c.3180T>G (p.Asp1060Glu)
c.2529T>G (p.Asp843Glu)
c.2133T>G (p.Asp711Glu)
c.1875T>G (p.Asp625Glu)
c.3153T>G (p.Asp1051Glu)
10g.75029043G>ACA209709718DUSP29,KAT6Bc.4219G>A (p.Asp1407Asn)
c.3670G>A (p.Asp1224Asn)
c.3343G>A (p.Asp1115Asn)
n.577-2449C>T
c.*3622-2449C>T (n.*3622-2449C>T)
c.4057G>A (p.Asp1353Asn)
c.3181G>A (p.Asp1061Asn)
c.2530G>A (p.Asp844Asn)
c.2134G>A (p.Asp712Asn)
c.1876G>A (p.Asp626Asn)
c.3154G>A (p.Asp1052Asn)
 dbSNP
10g.75029043G>CCA377296457DUSP29,KAT6Bc.4219G>C (p.Asp1407His)
c.3670G>C (p.Asp1224His)
c.3343G>C (p.Asp1115His)
n.577-2449C>G
c.*3622-2449C>G (n.*3622-2449C>G)
c.4057G>C (p.Asp1353His)
c.3181G>C (p.Asp1061His)
c.2530G>C (p.Asp844His)
c.2134G>C (p.Asp712His)
c.1876G>C (p.Asp626His)
c.3154G>C (p.Asp1052His)
10g.75029043G=CA1920306579DUSP29,KAT6Bc.4219G= (p.Asp1407=)
c.3670G= (p.Asp1224=)
c.3343G= (p.Asp1115=)
n.577-2449C=
c.*3622-2449C= (n.*3622-2449C=)
c.4057G= (p.Asp1353=)
c.3181G= (p.Asp1061=)
c.2530G= (p.Asp844=)
c.2134G= (p.Asp712=)
c.1876G= (p.Asp626=)
c.3154G= (p.Asp1052=)
10g.75029043G>TCA377296458DUSP29,KAT6Bc.4219G>T (p.Asp1407Tyr)
c.3670G>T (p.Asp1224Tyr)
c.3343G>T (p.Asp1115Tyr)
n.577-2449C>A
c.*3622-2449C>A (n.*3622-2449C>A)
c.4057G>T (p.Asp1353Tyr)
c.3181G>T (p.Asp1061Tyr)
c.2530G>T (p.Asp844Tyr)
c.2134G>T (p.Asp712Tyr)
c.1876G>T (p.Asp626Tyr)
c.3154G>T (p.Asp1052Tyr)
10g.75029044A>CCA377296459DUSP29,KAT6Bc.4220A>C (p.Asp1407Ala)
c.3671A>C (p.Asp1224Ala)
c.3344A>C (p.Asp1115Ala)
n.577-2450T>G
c.*3622-2450T>G (n.*3622-2450T>G)
c.4058A>C (p.Asp1353Ala)
c.3182A>C (p.Asp1061Ala)
c.2531A>C (p.Asp844Ala)
c.2135A>C (p.Asp712Ala)
c.1877A>C (p.Asp626Ala)
c.3155A>C (p.Asp1052Ala)
10g.75029044A>GCA377296460DUSP29,KAT6Bc.4220A>G (p.Asp1407Gly)
c.3671A>G (p.Asp1224Gly)
c.3344A>G (p.Asp1115Gly)
n.577-2450T>C
c.*3622-2450T>C (n.*3622-2450T>C)
c.4058A>G (p.Asp1353Gly)
c.3182A>G (p.Asp1061Gly)
c.2531A>G (p.Asp844Gly)
c.2135A>G (p.Asp712Gly)
c.1877A>G (p.Asp626Gly)
c.3155A>G (p.Asp1052Gly)
10g.75029044A>TCA377296461DUSP29,KAT6Bc.4220A>T (p.Asp1407Val)
c.3671A>T (p.Asp1224Val)
c.3344A>T (p.Asp1115Val)
n.577-2450T>A
c.*3622-2450T>A (n.*3622-2450T>A)
c.4058A>T (p.Asp1353Val)
c.3182A>T (p.Asp1061Val)
c.2531A>T (p.Asp844Val)
c.2135A>T (p.Asp712Val)
c.1877A>T (p.Asp626Val)
c.3155A>T (p.Asp1052Val)
10g.75029045T>ACA377296462DUSP29,KAT6Bc.4221T>A (p.Asp1407Glu)
c.3672T>A (p.Asp1224Glu)
c.3345T>A (p.Asp1115Glu)
n.577-2451A>T
c.*3622-2451A>T (n.*3622-2451A>T)
c.4059T>A (p.Asp1353Glu)
c.3183T>A (p.Asp1061Glu)
c.2532T>A (p.Asp844Glu)
c.2136T>A (p.Asp712Glu)
c.1878T>A (p.Asp626Glu)
c.3156T>A (p.Asp1052Glu)
10g.75029045T>CCA470299865DUSP29,KAT6Bc.4221T>C (p.Asp1407=)
c.3672T>C (p.Asp1224=)
c.3345T>C (p.Asp1115=)
n.577-2451A>G
c.*3622-2451A>G (n.*3622-2451A>G)
c.4059T>C (p.Asp1353=)
c.3183T>C (p.Asp1061=)
c.2532T>C (p.Asp844=)
c.2136T>C (p.Asp712=)
c.1878T>C (p.Asp626=)
c.3156T>C (p.Asp1052=)
 gnomAD v4
10g.75029045T>GCA377296463DUSP29,KAT6Bc.4221T>G (p.Asp1407Glu)
c.3672T>G (p.Asp1224Glu)
c.3345T>G (p.Asp1115Glu)
n.577-2451A>C
c.*3622-2451A>C (n.*3622-2451A>C)
c.4059T>G (p.Asp1353Glu)
c.3183T>G (p.Asp1061Glu)
c.2532T>G (p.Asp844Glu)
c.2136T>G (p.Asp712Glu)
c.1878T>G (p.Asp626Glu)
c.3156T>G (p.Asp1052Glu)
10g.75029046C>ACA377296464DUSP29,KAT6Bc.4222C>A (p.His1408Asn)
c.3673C>A (p.His1225Asn)
c.3346C>A (p.His1116Asn)
n.577-2452G>T
c.*3622-2452G>T (n.*3622-2452G>T)
c.4060C>A (p.His1354Asn)
c.3184C>A (p.His1062Asn)
c.2533C>A (p.His845Asn)
c.2137C>A (p.His713Asn)
c.1879C>A (p.His627Asn)
c.3157C>A (p.His1053Asn)
 gnomAD v4
10g.75029046C>GCA377296466DUSP29,KAT6Bc.4222C>G (p.His1408Asp)
c.3673C>G (p.His1225Asp)
c.3346C>G (p.His1116Asp)
n.577-2452G>C
c.*3622-2452G>C (n.*3622-2452G>C)
c.4060C>G (p.His1354Asp)
c.3184C>G (p.His1062Asp)
c.2533C>G (p.His845Asp)
c.2137C>G (p.His713Asp)
c.1879C>G (p.His627Asp)
c.3157C>G (p.His1053Asp)
10g.75029046C>TCA377296465DUSP29,KAT6Bc.4222C>T (p.His1408Tyr)
c.3673C>T (p.His1225Tyr)
c.3346C>T (p.His1116Tyr)
n.577-2452G>A
c.*3622-2452G>A (n.*3622-2452G>A)
c.4060C>T (p.His1354Tyr)
c.3184C>T (p.His1062Tyr)
c.2533C>T (p.His845Tyr)
c.2137C>T (p.His713Tyr)
c.1879C>T (p.His627Tyr)
c.3157C>T (p.His1053Tyr)
10g.75029046_75029067delinsCACGAAGAGGAGGAGGAAGAGGCA1920306580DUSP29,KAT6Bc.4222_4243delinsCACGAAGAGGAGGAGGAAGAGG (p.His1408=)
c.3673_3694delinsCACGAAGAGGAGGAGGAAGAGG (p.His1225=)
c.3346_3367delinsCACGAAGAGGAGGAGGAAGAGG (p.His1116=)
n.577-2473_577-2452delinsCCTCTTCCTCCTCCTCTTCGTG
c.*3622-2473_*3622-2452delinsCCTCTTCCTCCTCCTCTTCGTG (n.*3622-2473_*3622-2452delinsCCTCTTCCTCCTCCTCTTCGTG)
c.4060_4081delinsCACGAAGAGGAGGAGGAAGAGG (p.His1354=)
c.3184_3205delinsCACGAAGAGGAGGAGGAAGAGG (p.His1062=)
c.2533_2554delinsCACGAAGAGGAGGAGGAAGAGG (p.His845=)
c.2137_2158delinsCACGAAGAGGAGGAGGAAGAGG (p.His713=)
c.1879_1900delinsCACGAAGAGGAGGAGGAAGAGG (p.His627=)
c.3157_3178delinsCACGAAGAGGAGGAGGAAGAGG (p.His1053=)
10g.75029047A=CA1920306581DUSP29,KAT6Bc.4223A= (p.His1408=)
c.3674A= (p.His1225=)
c.3347A= (p.His1116=)
n.577-2453T=
c.*3622-2453T= (n.*3622-2453T=)
c.4061A= (p.His1354=)
c.3185A= (p.His1062=)
c.2534A= (p.His845=)
c.2138A= (p.His713=)
c.1880A= (p.His627=)
c.3158A= (p.His1053=)
10g.75029047A>CCA377296467DUSP29,KAT6Bc.4223A>C (p.His1408Pro)
c.3674A>C (p.His1225Pro)
c.3347A>C (p.His1116Pro)
n.577-2453T>G
c.*3622-2453T>G (n.*3622-2453T>G)
c.4061A>C (p.His1354Pro)
c.3185A>C (p.His1062Pro)
c.2534A>C (p.His845Pro)
c.2138A>C (p.His713Pro)
c.1880A>C (p.His627Pro)
c.3158A>C (p.His1053Pro)
10g.75029047A>GCA377296468DUSP29,KAT6Bc.4223A>G (p.His1408Arg)
c.3674A>G (p.His1225Arg)
c.3347A>G (p.His1116Arg)
n.577-2453T>C
c.*3622-2453T>C (n.*3622-2453T>C)
c.4061A>G (p.His1354Arg)
c.3185A>G (p.His1062Arg)
c.2534A>G (p.His845Arg)
c.2138A>G (p.His713Arg)
c.1880A>G (p.His627Arg)
c.3158A>G (p.His1053Arg)
 dbSNP gnomAD v4
10g.75029047A>TCA377296469DUSP29,KAT6Bc.4223A>T (p.His1408Leu)
c.3674A>T (p.His1225Leu)
c.3347A>T (p.His1116Leu)
n.577-2453T>A
c.*3622-2453T>A (n.*3622-2453T>A)
c.4061A>T (p.His1354Leu)
c.3185A>T (p.His1062Leu)
c.2534A>T (p.His845Leu)
c.2138A>T (p.His713Leu)
c.1880A>T (p.His627Leu)
c.3158A>T (p.His1053Leu)
10g.75029048_75029068delCA5564995DUSP29,KAT6Bc.4224_4244del (p.Glu1409_Asp1415del)
c.3675_3695del (p.Glu1226_Asp1232del)
c.3348_3368del (p.Glu1117_Asp1123del)
n.577-2473_577-2453del
c.*3622-2473_*3622-2453del (n.*3622-2473_*3622-2453del)
c.4062_4082del (p.Glu1355_Asp1361del)
c.3186_3206del (p.Glu1063_Asp1069del)
c.2535_2555del (p.Glu846_Asp852del)
c.2139_2159del (p.Glu714_Asp720del)
c.1881_1901del (p.Glu628_Asp634del)
c.3159_3179del (p.Glu1054_Asp1060del)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.75029048C>ACA377296470DUSP29,KAT6Bc.4224C>A (p.His1408Gln)
c.3675C>A (p.His1225Gln)
c.3348C>A (p.His1116Gln)
n.577-2454G>T
c.*3622-2454G>T (n.*3622-2454G>T)
c.4062C>A (p.His1354Gln)
c.3186C>A (p.His1062Gln)
c.2535C>A (p.His845Gln)
c.2139C>A (p.His713Gln)
c.1881C>A (p.His627Gln)
c.3159C>A (p.His1053Gln)
10g.75029048C=CA1920306582DUSP29,KAT6Bc.4224C= (p.His1408=)
c.3675C= (p.His1225=)
c.3348C= (p.His1116=)
n.577-2454G=
c.*3622-2454G= (n.*3622-2454G=)
c.4062C= (p.His1354=)
c.3186C= (p.His1062=)
c.2535C= (p.His845=)
c.2139C= (p.His713=)
c.1881C= (p.His627=)
c.3159C= (p.His1053=)
10g.75029048C>GCA377296471DUSP29,KAT6Bc.4224C>G (p.His1408Gln)
c.3675C>G (p.His1225Gln)
c.3348C>G (p.His1116Gln)
n.577-2454G>C
c.*3622-2454G>C (n.*3622-2454G>C)
c.4062C>G (p.His1354Gln)
c.3186C>G (p.His1062Gln)
c.2535C>G (p.His845Gln)
c.2139C>G (p.His713Gln)
c.1881C>G (p.His627Gln)
c.3159C>G (p.His1053Gln)
 gnomAD v4
10g.75029048C>TCA5564996DUSP29,KAT6Bc.4224C>T (p.His1408=)
c.3675C>T (p.His1225=)
c.3348C>T (p.His1116=)
n.577-2454G>A
c.*3622-2454G>A (n.*3622-2454G>A)
c.4062C>T (p.His1354=)
c.3186C>T (p.His1062=)
c.2535C>T (p.His845=)
c.2139C>T (p.His713=)
c.1881C>T (p.His627=)
c.3159C>T (p.His1053=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.75029049G>ACA5564997DUSP29,KAT6Bc.4225G>A (p.Glu1409Lys)
c.3676G>A (p.Glu1226Lys)
c.3349G>A (p.Glu1117Lys)
n.577-2455C>T
c.*3622-2455C>T (n.*3622-2455C>T)
c.4063G>A (p.Glu1355Lys)
c.3187G>A (p.Glu1063Lys)
c.2536G>A (p.Glu846Lys)
c.2140G>A (p.Glu714Lys)
c.1882G>A (p.Glu628Lys)
c.3160G>A (p.Glu1054Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.75029049G>CCA377296472DUSP29,KAT6Bc.4225G>C (p.Glu1409Gln)
c.3676G>C (p.Glu1226Gln)
c.3349G>C (p.Glu1117Gln)
n.577-2455C>G
c.*3622-2455C>G (n.*3622-2455C>G)
c.4063G>C (p.Glu1355Gln)
c.3187G>C (p.Glu1063Gln)
c.2536G>C (p.Glu846Gln)
c.2140G>C (p.Glu714Gln)
c.1882G>C (p.Glu628Gln)
c.3160G>C (p.Glu1054Gln)
10g.75029049G=CA1920306583DUSP29,KAT6Bc.4225G= (p.Glu1409=)
c.3676G= (p.Glu1226=)
c.3349G= (p.Glu1117=)
n.577-2455C=
c.*3622-2455C= (n.*3622-2455C=)
c.4063G= (p.Glu1355=)
c.3187G= (p.Glu1063=)
c.2536G= (p.Glu846=)
c.2140G= (p.Glu714=)
c.1882G= (p.Glu628=)
c.3160G= (p.Glu1054=)
10g.75029049G>TCA377296473DUSP29,KAT6Bc.4225G>T (p.Glu1409Ter)
c.3676G>T (p.Glu1226Ter)
c.3349G>T (p.Glu1117Ter)
n.577-2455C>A
c.*3622-2455C>A (n.*3622-2455C>A)
c.4063G>T (p.Glu1355Ter)
c.3187G>T (p.Glu1063Ter)
c.2536G>T (p.Glu846Ter)
c.2140G>T (p.Glu714Ter)
c.1882G>T (p.Glu628Ter)
c.3160G>T (p.Glu1054Ter)
10g.75029050A>CCA377296475DUSP29,KAT6Bc.4226A>C (p.Glu1409Ala)
c.3677A>C (p.Glu1226Ala)
c.3350A>C (p.Glu1117Ala)
n.577-2456T>G
c.*3622-2456T>G (n.*3622-2456T>G)
c.4064A>C (p.Glu1355Ala)
c.3188A>C (p.Glu1063Ala)
c.2537A>C (p.Glu846Ala)
c.2141A>C (p.Glu714Ala)
c.1883A>C (p.Glu628Ala)
c.3161A>C (p.Glu1054Ala)
10g.75029050A>GCA377296476DUSP29,KAT6Bc.4226A>G (p.Glu1409Gly)
c.3677A>G (p.Glu1226Gly)
c.3350A>G (p.Glu1117Gly)
n.577-2456T>C
c.*3622-2456T>C (n.*3622-2456T>C)
c.4064A>G (p.Glu1355Gly)
c.3188A>G (p.Glu1063Gly)
c.2537A>G (p.Glu846Gly)
c.2141A>G (p.Glu714Gly)
c.1883A>G (p.Glu628Gly)
c.3161A>G (p.Glu1054Gly)
10g.75029050A>TCA377296474DUSP29,KAT6Bc.4226A>T (p.Glu1409Val)
c.3677A>T (p.Glu1226Val)
c.3350A>T (p.Glu1117Val)
n.577-2456T>A
c.*3622-2456T>A (n.*3622-2456T>A)
c.4064A>T (p.Glu1355Val)
c.3188A>T (p.Glu1063Val)
c.2537A>T (p.Glu846Val)
c.2141A>T (p.Glu714Val)
c.1883A>T (p.Glu628Val)
c.3161A>T (p.Glu1054Val)
10g.75029051A>CCA377296477DUSP29,KAT6Bc.4227A>C (p.Glu1409Asp)
c.3678A>C (p.Glu1226Asp)
c.3351A>C (p.Glu1117Asp)
n.577-2457T>G
c.*3622-2457T>G (n.*3622-2457T>G)
c.4065A>C (p.Glu1355Asp)
c.3189A>C (p.Glu1063Asp)
c.2538A>C (p.Glu846Asp)
c.2142A>C (p.Glu714Asp)
c.1884A>C (p.Glu628Asp)
c.3162A>C (p.Glu1054Asp)
10g.75029051A>GCA470299871DUSP29,KAT6Bc.4227A>G (p.Glu1409=)
c.3678A>G (p.Glu1226=)
c.3351A>G (p.Glu1117=)
n.577-2457T>C
c.*3622-2457T>C (n.*3622-2457T>C)
c.4065A>G (p.Glu1355=)
c.3189A>G (p.Glu1063=)
c.2538A>G (p.Glu846=)
c.2142A>G (p.Glu714=)
c.1884A>G (p.Glu628=)
c.3162A>G (p.Glu1054=)
10g.75029051A>TCA377296478DUSP29,KAT6Bc.4227A>T (p.Glu1409Asp)
c.3678A>T (p.Glu1226Asp)
c.3351A>T (p.Glu1117Asp)
n.577-2457T>A
c.*3622-2457T>A (n.*3622-2457T>A)
c.4065A>T (p.Glu1355Asp)
c.3189A>T (p.Glu1063Asp)
c.2538A>T (p.Glu846Asp)
c.2142A>T (p.Glu714Asp)
c.1884A>T (p.Glu628Asp)
c.3162A>T (p.Glu1054Asp)
10g.75029051_75029054delinsAGAGCA1920306584DUSP29,KAT6Bc.4227_4230delinsAGAG (p.Glu1409=)
c.3678_3681delinsAGAG (p.Glu1226=)
c.3351_3354delinsAGAG (p.Glu1117=)
n.577-2460_577-2457delinsCTCT
c.*3622-2460_*3622-2457delinsCTCT (n.*3622-2460_*3622-2457delinsCTCT)
c.4065_4068delinsAGAG (p.Glu1355=)
c.3189_3192delinsAGAG (p.Glu1063=)
c.2538_2541delinsAGAG (p.Glu846=)
c.2142_2145delinsAGAG (p.Glu714=)
c.1884_1887delinsAGAG (p.Glu628=)
c.3162_3165delinsAGAG (p.Glu1054=)
10g.75029052G>ACA377296479DUSP29,KAT6Bc.4228G>A (p.Glu1410Lys)
c.3679G>A (p.Glu1227Lys)
c.3352G>A (p.Glu1118Lys)
n.577-2458C>T
c.*3622-2458C>T (n.*3622-2458C>T)
c.4066G>A (p.Glu1356Lys)
c.3190G>A (p.Glu1064Lys)
c.2539G>A (p.Glu847Lys)
c.2143G>A (p.Glu715Lys)
c.1885G>A (p.Glu629Lys)
c.3163G>A (p.Glu1055Lys)
 gnomAD v4
10g.75029052G>CCA377296480DUSP29,KAT6Bc.4228G>C (p.Glu1410Gln)
c.3679G>C (p.Glu1227Gln)
c.3352G>C (p.Glu1118Gln)
n.577-2458C>G
c.*3622-2458C>G (n.*3622-2458C>G)
c.4066G>C (p.Glu1356Gln)
c.3190G>C (p.Glu1064Gln)
c.2539G>C (p.Glu847Gln)
c.2143G>C (p.Glu715Gln)
c.1885G>C (p.Glu629Gln)
c.3163G>C (p.Glu1055Gln)
10g.75029052G=CA1920306585DUSP29,KAT6Bc.4228G= (p.Glu1410=)
c.3679G= (p.Glu1227=)
c.3352G= (p.Glu1118=)
n.577-2458C=
c.*3622-2458C= (n.*3622-2458C=)
c.4066G= (p.Glu1356=)
c.3190G= (p.Glu1064=)
c.2539G= (p.Glu847=)
c.2143G= (p.Glu715=)
c.1885G= (p.Glu629=)
c.3163G= (p.Glu1055=)
10g.75029052G>TCA377296481DUSP29,KAT6Bc.4228G>T (p.Glu1410Ter)
c.3679G>T (p.Glu1227Ter)
c.3352G>T (p.Glu1118Ter)
n.577-2458C>A
c.*3622-2458C>A (n.*3622-2458C>A)
c.4066G>T (p.Glu1356Ter)
c.3190G>T (p.Glu1064Ter)
c.2539G>T (p.Glu847Ter)
c.2143G>T (p.Glu715Ter)
c.1885G>T (p.Glu629Ter)
c.3163G>T (p.Glu1055Ter)
 ClinVar dbSNP
10g.75029060_75029062dupCA594709538DUSP29,KAT6Bc.4236_4238dup (p.Glu1413_Glu1414insGlu)
c.3687_3689dup (p.Glu1230_Glu1231insGlu)
c.3360_3362dup (p.Glu1121_Glu1122insGlu)
n.577-2460_577-2458dup
c.*3622-2460_*3622-2458dup (n.*3622-2460_*3622-2458dup)
c.4074_4076dup (p.Glu1359_Glu1360insGlu)
c.3198_3200dup (p.Glu1067_Glu1068insGlu)
c.2547_2549dup (p.Glu850_Glu851insGlu)
c.2151_2153dup (p.Glu718_Glu719insGlu)
c.1893_1895dup (p.Glu632_Glu633insGlu)
c.3171_3173dup (p.Glu1058_Glu1059insGlu)
 dbSNP gnomAD v2 gnomAD v4
10g.75029060_75029062delCA5564998DUSP29,KAT6Bc.4236_4238del (p.Glu1413del)
c.3687_3689del (p.Glu1230del)
c.3360_3362del (p.Glu1121del)
n.577-2460_577-2458del
c.*3622-2460_*3622-2458del (n.*3622-2460_*3622-2458del)
c.4074_4076del (p.Glu1359del)
c.3198_3200del (p.Glu1067del)
c.2547_2549del (p.Glu850del)
c.2151_2153del (p.Glu718del)
c.1893_1895del (p.Glu632del)
c.3171_3173del (p.Glu1058del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.75029053A=CA1920306586DUSP29,KAT6Bc.4229A= (p.Glu1410=)
c.3680A= (p.Glu1227=)
c.3353A= (p.Glu1118=)
n.577-2459T=
c.*3622-2459T= (n.*3622-2459T=)
c.4067A= (p.Glu1356=)
c.3191A= (p.Glu1064=)
c.2540A= (p.Glu847=)
c.2144A= (p.Glu715=)
c.1886A= (p.Glu629=)
c.3164A= (p.Glu1055=)
10g.75029053A>CCA5564999DUSP29,KAT6Bc.4229A>C (p.Glu1410Ala)
c.3680A>C (p.Glu1227Ala)
c.3353A>C (p.Glu1118Ala)
n.577-2459T>G
c.*3622-2459T>G (n.*3622-2459T>G)
c.4067A>C (p.Glu1356Ala)
c.3191A>C (p.Glu1064Ala)
c.2540A>C (p.Glu847Ala)
c.2144A>C (p.Glu715Ala)
c.1886A>C (p.Glu629Ala)
c.3164A>C (p.Glu1055Ala)
 dbSNP ExAC gnomAD v2
10g.75029053A>GCA377296482DUSP29,KAT6Bc.4229A>G (p.Glu1410Gly)
c.3680A>G (p.Glu1227Gly)
c.3353A>G (p.Glu1118Gly)
n.577-2459T>C
c.*3622-2459T>C (n.*3622-2459T>C)
c.4067A>G (p.Glu1356Gly)
c.3191A>G (p.Glu1064Gly)
c.2540A>G (p.Glu847Gly)
c.2144A>G (p.Glu715Gly)
c.1886A>G (p.Glu629Gly)
c.3164A>G (p.Glu1055Gly)
10g.75029053A>TCA377296483DUSP29,KAT6Bc.4229A>T (p.Glu1410Val)
c.3680A>T (p.Glu1227Val)
c.3353A>T (p.Glu1118Val)
n.577-2459T>A
c.*3622-2459T>A (n.*3622-2459T>A)
c.4067A>T (p.Glu1356Val)
c.3191A>T (p.Glu1064Val)
c.2540A>T (p.Glu847Val)
c.2144A>T (p.Glu715Val)
c.1886A>T (p.Glu629Val)
c.3164A>T (p.Glu1055Val)
10g.75029054G>ACA5565000DUSP29,KAT6Bc.4230G>A (p.Glu1410=)
c.3681G>A (p.Glu1227=)
c.3354G>A (p.Glu1118=)
n.577-2460C>T
c.*3622-2460C>T (n.*3622-2460C>T)
c.4068G>A (p.Glu1356=)
c.3192G>A (p.Glu1064=)
c.2541G>A (p.Glu847=)
c.2145G>A (p.Glu715=)
c.1887G>A (p.Glu629=)
c.3165G>A (p.Glu1055=)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.75029054G>CCA377296484DUSP29,KAT6Bc.4230G>C (p.Glu1410Asp)
c.3681G>C (p.Glu1227Asp)
c.3354G>C (p.Glu1118Asp)
n.577-2460C>G
c.*3622-2460C>G (n.*3622-2460C>G)
c.4068G>C (p.Glu1356Asp)
c.3192G>C (p.Glu1064Asp)
c.2541G>C (p.Glu847Asp)
c.2145G>C (p.Glu715Asp)
c.1887G>C (p.Glu629Asp)
c.3165G>C (p.Glu1055Asp)
10g.75029054G=CA1920306587DUSP29,KAT6Bc.4230G= (p.Glu1410=)
c.3681G= (p.Glu1227=)
c.3354G= (p.Glu1118=)
n.577-2460C=
c.*3622-2460C= (n.*3622-2460C=)
c.4068G= (p.Glu1356=)
c.3192G= (p.Glu1064=)
c.2541G= (p.Glu847=)
c.2145G= (p.Glu715=)
c.1887G= (p.Glu629=)
c.3165G= (p.Glu1055=)
10g.75029054G>TCA377296485DUSP29,KAT6Bc.4230G>T (p.Glu1410Asp)
c.3681G>T (p.Glu1227Asp)
c.3354G>T (p.Glu1118Asp)
n.577-2460C>A
c.*3622-2460C>A (n.*3622-2460C>A)
c.4068G>T (p.Glu1356Asp)
c.3192G>T (p.Glu1064Asp)
c.2541G>T (p.Glu847Asp)
c.2145G>T (p.Glu715Asp)
c.1887G>T (p.Glu629Asp)
c.3165G>T (p.Glu1055Asp)
10g.75029055G>ACA377296487DUSP29,KAT6Bc.4231G>A (p.Glu1411Lys)
c.3682G>A (p.Glu1228Lys)
c.3355G>A (p.Glu1119Lys)
n.577-2461C>T
c.*3622-2461C>T (n.*3622-2461C>T)
c.4069G>A (p.Glu1357Lys)
c.3193G>A (p.Glu1065Lys)
c.2542G>A (p.Glu848Lys)
c.2146G>A (p.Glu716Lys)
c.1888G>A (p.Glu630Lys)
c.3166G>A (p.Glu1056Lys)
10g.75029055G>CCA377296488DUSP29,KAT6Bc.4231G>C (p.Glu1411Gln)
c.3682G>C (p.Glu1228Gln)
c.3355G>C (p.Glu1119Gln)
n.577-2461C>G
c.*3622-2461C>G (n.*3622-2461C>G)
c.4069G>C (p.Glu1357Gln)
c.3193G>C (p.Glu1065Gln)
c.2542G>C (p.Glu848Gln)
c.2146G>C (p.Glu716Gln)
c.1888G>C (p.Glu630Gln)
c.3166G>C (p.Glu1056Gln)
 dbSNP gnomAD v2 gnomAD v4
10g.75029055G=CA1920306588DUSP29,KAT6Bc.4231G= (p.Glu1411=)
c.3682G= (p.Glu1228=)
c.3355G= (p.Glu1119=)
n.577-2461C=
c.*3622-2461C= (n.*3622-2461C=)
c.4069G= (p.Glu1357=)
c.3193G= (p.Glu1065=)
c.2542G= (p.Glu848=)
c.2146G= (p.Glu716=)
c.1888G= (p.Glu630=)
c.3166G= (p.Glu1056=)
10g.75029055G>TCA377296486DUSP29,KAT6Bc.4231G>T (p.Glu1411Ter)
c.3682G>T (p.Glu1228Ter)
c.3355G>T (p.Glu1119Ter)
n.577-2461C>A
c.*3622-2461C>A (n.*3622-2461C>A)
c.4069G>T (p.Glu1357Ter)
c.3193G>T (p.Glu1065Ter)
c.2542G>T (p.Glu848Ter)
c.2146G>T (p.Glu716Ter)
c.1888G>T (p.Glu630Ter)
c.3166G>T (p.Glu1056Ter)
 ClinVar dbSNP
10g.75029056A>CCA377296489DUSP29,KAT6Bc.4232A>C (p.Glu1411Ala)
c.3683A>C (p.Glu1228Ala)
c.3356A>C (p.Glu1119Ala)
n.577-2462T>G
c.*3622-2462T>G (n.*3622-2462T>G)
c.4070A>C (p.Glu1357Ala)
c.3194A>C (p.Glu1065Ala)
c.2543A>C (p.Glu848Ala)
c.2147A>C (p.Glu716Ala)
c.1889A>C (p.Glu630Ala)
c.3167A>C (p.Glu1056Ala)
10g.75029056A>GCA377296490DUSP29,KAT6Bc.4232A>G (p.Glu1411Gly)
c.3683A>G (p.Glu1228Gly)
c.3356A>G (p.Glu1119Gly)
n.577-2462T>C
c.*3622-2462T>C (n.*3622-2462T>C)
c.4070A>G (p.Glu1357Gly)
c.3194A>G (p.Glu1065Gly)
c.2543A>G (p.Glu848Gly)
c.2147A>G (p.Glu716Gly)
c.1889A>G (p.Glu630Gly)
c.3167A>G (p.Glu1056Gly)
 COSMIC
10g.75029056A>TCA377296491DUSP29,KAT6Bc.4232A>T (p.Glu1411Val)
c.3683A>T (p.Glu1228Val)
c.3356A>T (p.Glu1119Val)
n.577-2462T>A
c.*3622-2462T>A (n.*3622-2462T>A)
c.4070A>T (p.Glu1357Val)
c.3194A>T (p.Glu1065Val)
c.2543A>T (p.Glu848Val)
c.2147A>T (p.Glu716Val)
c.1889A>T (p.Glu630Val)
c.3167A>T (p.Glu1056Val)
10g.75029057G>ACA470299877DUSP29,KAT6Bc.4233G>A (p.Glu1411=)
c.3684G>A (p.Glu1228=)
c.3357G>A (p.Glu1119=)
n.577-2463C>T
c.*3622-2463C>T (n.*3622-2463C>T)
c.4071G>A (p.Glu1357=)
c.3195G>A (p.Glu1065=)
c.2544G>A (p.Glu848=)
c.2148G>A (p.Glu716=)
c.1890G>A (p.Glu630=)
c.3168G>A (p.Glu1056=)
 dbSNP gnomAD v3 gnomAD v4
10g.75029057G>CCA377296492DUSP29,KAT6Bc.4233G>C (p.Glu1411Asp)
c.3684G>C (p.Glu1228Asp)
c.3357G>C (p.Glu1119Asp)
n.577-2463C>G
c.*3622-2463C>G (n.*3622-2463C>G)
c.4071G>C (p.Glu1357Asp)
c.3195G>C (p.Glu1065Asp)
c.2544G>C (p.Glu848Asp)
c.2148G>C (p.Glu716Asp)
c.1890G>C (p.Glu630Asp)
c.3168G>C (p.Glu1056Asp)
10g.75029057G=CA1920306589DUSP29,KAT6Bc.4233G= (p.Glu1411=)
c.3684G= (p.Glu1228=)
c.3357G= (p.Glu1119=)
n.577-2463C=
c.*3622-2463C= (n.*3622-2463C=)
c.4071G= (p.Glu1357=)
c.3195G= (p.Glu1065=)
c.2544G= (p.Glu848=)
c.2148G= (p.Glu716=)
c.1890G= (p.Glu630=)
c.3168G= (p.Glu1056=)
10g.75029057G>TCA377296493DUSP29,KAT6Bc.4233G>T (p.Glu1411Asp)
c.3684G>T (p.Glu1228Asp)
c.3357G>T (p.Glu1119Asp)
n.577-2463C>A
c.*3622-2463C>A (n.*3622-2463C>A)
c.4071G>T (p.Glu1357Asp)
c.3195G>T (p.Glu1065Asp)
c.2544G>T (p.Glu848Asp)
c.2148G>T (p.Glu716Asp)
c.1890G>T (p.Glu630Asp)
c.3168G>T (p.Glu1056Asp)
10g.75029058G>ACA377296496DUSP29,KAT6Bc.4234G>A (p.Glu1412Lys)
c.3685G>A (p.Glu1229Lys)
c.3358G>A (p.Glu1120Lys)
n.577-2464C>T
c.*3622-2464C>T (n.*3622-2464C>T)
c.4072G>A (p.Glu1358Lys)
c.3196G>A (p.Glu1066Lys)
c.2545G>A (p.Glu849Lys)
c.2149G>A (p.Glu717Lys)
c.1891G>A (p.Glu631Lys)
c.3169G>A (p.Glu1057Lys)
 dbSNP gnomAD v2 gnomAD v4
10g.75029058G>CCA377296494DUSP29,KAT6Bc.4234G>C (p.Glu1412Gln)
c.3685G>C (p.Glu1229Gln)
c.3358G>C (p.Glu1120Gln)
n.577-2464C>G
c.*3622-2464C>G (n.*3622-2464C>G)
c.4072G>C (p.Glu1358Gln)
c.3196G>C (p.Glu1066Gln)
c.2545G>C (p.Glu849Gln)
c.2149G>C (p.Glu717Gln)
c.1891G>C (p.Glu631Gln)
c.3169G>C (p.Glu1057Gln)
10g.75029058G=CA1920306590DUSP29,KAT6Bc.4234G= (p.Glu1412=)
c.3685G= (p.Glu1229=)
c.3358G= (p.Glu1120=)
n.577-2464C=
c.*3622-2464C= (n.*3622-2464C=)
c.4072G= (p.Glu1358=)
c.3196G= (p.Glu1066=)
c.2545G= (p.Glu849=)
c.2149G= (p.Glu717=)
c.1891G= (p.Glu631=)
c.3169G= (p.Glu1057=)
10g.75029058G>TCA377296495DUSP29,KAT6Bc.4234G>T (p.Glu1412Ter)
c.3685G>T (p.Glu1229Ter)
c.3358G>T (p.Glu1120Ter)
n.577-2464C>A
c.*3622-2464C>A (n.*3622-2464C>A)
c.4072G>T (p.Glu1358Ter)
c.3196G>T (p.Glu1066Ter)
c.2545G>T (p.Glu849Ter)
c.2149G>T (p.Glu717Ter)
c.1891G>T (p.Glu631Ter)
c.3169G>T (p.Glu1057Ter)
10g.75029059A>CCA377296497DUSP29,KAT6Bc.4235A>C (p.Glu1412Ala)
c.3686A>C (p.Glu1229Ala)
c.3359A>C (p.Glu1120Ala)
n.577-2465T>G
c.*3622-2465T>G (n.*3622-2465T>G)
c.4073A>C (p.Glu1358Ala)
c.3197A>C (p.Glu1066Ala)
c.2546A>C (p.Glu849Ala)
c.2150A>C (p.Glu717Ala)
c.1892A>C (p.Glu631Ala)
c.3170A>C (p.Glu1057Ala)
10g.75029059A>GCA377296498DUSP29,KAT6Bc.4235A>G (p.Glu1412Gly)
c.3686A>G (p.Glu1229Gly)
c.3359A>G (p.Glu1120Gly)
n.577-2465T>C
c.*3622-2465T>C (n.*3622-2465T>C)
c.4073A>G (p.Glu1358Gly)
c.3197A>G (p.Glu1066Gly)
c.2546A>G (p.Glu849Gly)
c.2150A>G (p.Glu717Gly)
c.1892A>G (p.Glu631Gly)
c.3170A>G (p.Glu1057Gly)
10g.75029059A>TCA377296499DUSP29,KAT6Bc.4235A>T (p.Glu1412Val)
c.3686A>T (p.Glu1229Val)
c.3359A>T (p.Glu1120Val)
n.577-2465T>A
c.*3622-2465T>A (n.*3622-2465T>A)
c.4073A>T (p.Glu1358Val)
c.3197A>T (p.Glu1066Val)
c.2546A>T (p.Glu849Val)
c.2150A>T (p.Glu717Val)
c.1892A>T (p.Glu631Val)
c.3170A>T (p.Glu1057Val)
10g.75029060G>ACA470299879DUSP29,KAT6Bc.4236G>A (p.Glu1412=)
c.3687G>A (p.Glu1229=)
c.3360G>A (p.Glu1120=)
n.577-2466C>T
c.*3622-2466C>T (n.*3622-2466C>T)
c.4074G>A (p.Glu1358=)
c.3198G>A (p.Glu1066=)
c.2547G>A (p.Glu849=)
c.2151G>A (p.Glu717=)
c.1893G>A (p.Glu631=)
c.3171G>A (p.Glu1057=)
10g.75029060G>CCA377296500DUSP29,KAT6Bc.4236G>C (p.Glu1412Asp)
c.3687G>C (p.Glu1229Asp)
c.3360G>C (p.Glu1120Asp)
n.577-2466C>G
c.*3622-2466C>G (n.*3622-2466C>G)
c.4074G>C (p.Glu1358Asp)
c.3198G>C (p.Glu1066Asp)
c.2547G>C (p.Glu849Asp)
c.2151G>C (p.Glu717Asp)
c.1893G>C (p.Glu631Asp)
c.3171G>C (p.Glu1057Asp)
 dbSNP gnomAD v3 gnomAD v4 COSMIC
10g.75029060G=CA1920306591DUSP29,KAT6Bc.4236G= (p.Glu1412=)
c.3687G= (p.Glu1229=)
c.3360G= (p.Glu1120=)
n.577-2466C=
c.*3622-2466C= (n.*3622-2466C=)
c.4074G= (p.Glu1358=)
c.3198G= (p.Glu1066=)
c.2547G= (p.Glu849=)
c.2151G= (p.Glu717=)
c.1893G= (p.Glu631=)
c.3171G= (p.Glu1057=)
10g.75029060G>TCA377296501DUSP29,KAT6Bc.4236G>T (p.Glu1412Asp)
c.3687G>T (p.Glu1229Asp)
c.3360G>T (p.Glu1120Asp)
n.577-2466C>A
c.*3622-2466C>A (n.*3622-2466C>A)
c.4074G>T (p.Glu1358Asp)
c.3198G>T (p.Glu1066Asp)
c.2547G>T (p.Glu849Asp)
c.2151G>T (p.Glu717Asp)
c.1893G>T (p.Glu631Asp)
c.3171G>T (p.Glu1057Asp)
10g.75029061G>ACA377296504DUSP29,KAT6Bc.4237G>A (p.Glu1413Lys)
c.3688G>A (p.Glu1230Lys)
c.3361G>A (p.Glu1121Lys)
n.577-2467C>T
c.*3622-2467C>T (n.*3622-2467C>T)
c.4075G>A (p.Glu1359Lys)
c.3199G>A (p.Glu1067Lys)
c.2548G>A (p.Glu850Lys)
c.2152G>A (p.Glu718Lys)
c.1894G>A (p.Glu632Lys)
c.3172G>A (p.Glu1058Lys)
 dbSNP gnomAD v2 gnomAD v4
10g.75029061G>CCA377296503DUSP29,KAT6Bc.4237G>C (p.Glu1413Gln)
c.3688G>C (p.Glu1230Gln)
c.3361G>C (p.Glu1121Gln)
n.577-2467C>G
c.*3622-2467C>G (n.*3622-2467C>G)
c.4075G>C (p.Glu1359Gln)
c.3199G>C (p.Glu1067Gln)
c.2548G>C (p.Glu850Gln)
c.2152G>C (p.Glu718Gln)
c.1894G>C (p.Glu632Gln)
c.3172G>C (p.Glu1058Gln)
10g.75029061G=CA1920306592DUSP29,KAT6Bc.4237G= (p.Glu1413=)
c.3688G= (p.Glu1230=)
c.3361G= (p.Glu1121=)
n.577-2467C=
c.*3622-2467C= (n.*3622-2467C=)
c.4075G= (p.Glu1359=)
c.3199G= (p.Glu1067=)
c.2548G= (p.Glu850=)
c.2152G= (p.Glu718=)
c.1894G= (p.Glu632=)
c.3172G= (p.Glu1058=)
10g.75029061G>TCA377296502DUSP29,KAT6Bc.4237G>T (p.Glu1413Ter)
c.3688G>T (p.Glu1230Ter)
c.3361G>T (p.Glu1121Ter)
n.577-2467C>A
c.*3622-2467C>A (n.*3622-2467C>A)
c.4075G>T (p.Glu1359Ter)
c.3199G>T (p.Glu1067Ter)
c.2548G>T (p.Glu850Ter)
c.2152G>T (p.Glu718Ter)
c.1894G>T (p.Glu632Ter)
c.3172G>T (p.Glu1058Ter)
10g.75029062A>CCA377296505DUSP29,KAT6Bc.4238A>C (p.Glu1413Ala)
c.3689A>C (p.Glu1230Ala)
c.3362A>C (p.Glu1121Ala)
n.577-2468T>G
c.*3622-2468T>G (n.*3622-2468T>G)
c.4076A>C (p.Glu1359Ala)
c.3200A>C (p.Glu1067Ala)
c.2549A>C (p.Glu850Ala)
c.2153A>C (p.Glu718Ala)
c.1895A>C (p.Glu632Ala)
c.3173A>C (p.Glu1058Ala)
10g.75029062A>GCA377296507DUSP29,KAT6Bc.4238A>G (p.Glu1413Gly)
c.3689A>G (p.Glu1230Gly)
c.3362A>G (p.Glu1121Gly)
n.577-2468T>C
c.*3622-2468T>C (n.*3622-2468T>C)
c.4076A>G (p.Glu1359Gly)
c.3200A>G (p.Glu1067Gly)
c.2549A>G (p.Glu850Gly)
c.2153A>G (p.Glu718Gly)
c.1895A>G (p.Glu632Gly)
c.3173A>G (p.Glu1058Gly)
10g.75029062A>TCA377296506DUSP29,KAT6Bc.4238A>T (p.Glu1413Val)
c.3689A>T (p.Glu1230Val)
c.3362A>T (p.Glu1121Val)
n.577-2468T>A
c.*3622-2468T>A (n.*3622-2468T>A)
c.4076A>T (p.Glu1359Val)
c.3200A>T (p.Glu1067Val)
c.2549A>T (p.Glu850Val)
c.2153A>T (p.Glu718Val)
c.1895A>T (p.Glu632Val)
c.3173A>T (p.Glu1058Val)
10g.75029063A=CA1920306593DUSP29,KAT6Bc.4239A= (p.Glu1413=)
c.3690A= (p.Glu1230=)
c.3363A= (p.Glu1121=)
n.577-2469T=
c.*3622-2469T= (n.*3622-2469T=)
c.4077A= (p.Glu1359=)
c.3201A= (p.Glu1067=)
c.2550A= (p.Glu850=)
c.2154A= (p.Glu718=)
c.1896A= (p.Glu632=)
c.3174A= (p.Glu1058=)
10g.75029063A>CCA377296508DUSP29,KAT6Bc.4239A>C (p.Glu1413Asp)
c.3690A>C (p.Glu1230Asp)
c.3363A>C (p.Glu1121Asp)
n.577-2469T>G
c.*3622-2469T>G (n.*3622-2469T>G)
c.4077A>C (p.Glu1359Asp)
c.3201A>C (p.Glu1067Asp)
c.2550A>C (p.Glu850Asp)
c.2154A>C (p.Glu718Asp)
c.1896A>C (p.Glu632Asp)
c.3174A>C (p.Glu1058Asp)
10g.75029063A>GCA5565001DUSP29,KAT6Bc.4239A>G (p.Glu1413=)
c.3690A>G (p.Glu1230=)
c.3363A>G (p.Glu1121=)
n.577-2469T>C
c.*3622-2469T>C (n.*3622-2469T>C)
c.4077A>G (p.Glu1359=)
c.3201A>G (p.Glu1067=)
c.2550A>G (p.Glu850=)
c.2154A>G (p.Glu718=)
c.1896A>G (p.Glu632=)
c.3174A>G (p.Glu1058=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.75029063A>TCA377296509DUSP29,KAT6Bc.4239A>T (p.Glu1413Asp)
c.3690A>T (p.Glu1230Asp)
c.3363A>T (p.Glu1121Asp)
n.577-2469T>A
c.*3622-2469T>A (n.*3622-2469T>A)
c.4077A>T (p.Glu1359Asp)
c.3201A>T (p.Glu1067Asp)
c.2550A>T (p.Glu850Asp)
c.2154A>T (p.Glu718Asp)
c.1896A>T (p.Glu632Asp)
c.3174A>T (p.Glu1058Asp)
10g.75029064G>ACA377296510DUSP29,KAT6Bc.4240G>A (p.Glu1414Lys)
c.3691G>A (p.Glu1231Lys)
c.3364G>A (p.Glu1122Lys)
n.577-2470C>T
c.*3622-2470C>T (n.*3622-2470C>T)
c.4078G>A (p.Glu1360Lys)
c.3202G>A (p.Glu1068Lys)
c.2551G>A (p.Glu851Lys)
c.2155G>A (p.Glu719Lys)
c.1897G>A (p.Glu633Lys)
c.3175G>A (p.Glu1059Lys)
10g.75029064G>CCA377296511DUSP29,KAT6Bc.4240G>C (p.Glu1414Gln)
c.3691G>C (p.Glu1231Gln)
c.3364G>C (p.Glu1122Gln)
n.577-2470C>G
c.*3622-2470C>G (n.*3622-2470C>G)
c.4078G>C (p.Glu1360Gln)
c.3202G>C (p.Glu1068Gln)
c.2551G>C (p.Glu851Gln)
c.2155G>C (p.Glu719Gln)
c.1897G>C (p.Glu633Gln)
c.3175G>C (p.Glu1059Gln)
10g.75029064G>TCA377296512DUSP29,KAT6Bc.4240G>T (p.Glu1414Ter)
c.3691G>T (p.Glu1231Ter)
c.3364G>T (p.Glu1122Ter)
n.577-2470C>A
c.*3622-2470C>A (n.*3622-2470C>A)
c.4078G>T (p.Glu1360Ter)
c.3202G>T (p.Glu1068Ter)
c.2551G>T (p.Glu851Ter)
c.2155G>T (p.Glu719Ter)
c.1897G>T (p.Glu633Ter)
c.3175G>T (p.Glu1059Ter)
10g.75029065A>CCA377296513DUSP29,KAT6Bc.4241A>C (p.Glu1414Ala)
c.3692A>C (p.Glu1231Ala)
c.3365A>C (p.Glu1122Ala)
n.577-2471T>G
c.*3622-2471T>G (n.*3622-2471T>G)
c.4079A>C (p.Glu1360Ala)
c.3203A>C (p.Glu1068Ala)
c.2552A>C (p.Glu851Ala)
c.2156A>C (p.Glu719Ala)
c.1898A>C (p.Glu633Ala)
c.3176A>C (p.Glu1059Ala)
10g.75029065A>GCA377296514DUSP29,KAT6Bc.4241A>G (p.Glu1414Gly)
c.3692A>G (p.Glu1231Gly)
c.3365A>G (p.Glu1122Gly)
n.577-2471T>C
c.*3622-2471T>C (n.*3622-2471T>C)
c.4079A>G (p.Glu1360Gly)
c.3203A>G (p.Glu1068Gly)
c.2552A>G (p.Glu851Gly)
c.2156A>G (p.Glu719Gly)
c.1898A>G (p.Glu633Gly)
c.3176A>G (p.Glu1059Gly)
10g.75029065A>TCA377296515DUSP29,KAT6Bc.4241A>T (p.Glu1414Val)
c.3692A>T (p.Glu1231Val)
c.3365A>T (p.Glu1122Val)
n.577-2471T>A
c.*3622-2471T>A (n.*3622-2471T>A)
c.4079A>T (p.Glu1360Val)
c.3203A>T (p.Glu1068Val)
c.2552A>T (p.Glu851Val)
c.2156A>T (p.Glu719Val)
c.1898A>T (p.Glu633Val)
c.3176A>T (p.Glu1059Val)
10g.75029066G>ACA5565002DUSP29,KAT6Bc.4242G>A (p.Glu1414=)
c.3693G>A (p.Glu1231=)
c.3366G>A (p.Glu1122=)
n.577-2472C>T
c.*3622-2472C>T (n.*3622-2472C>T)
c.4080G>A (p.Glu1360=)
c.3204G>A (p.Glu1068=)
c.2553G>A (p.Glu851=)
c.2157G>A (p.Glu719=)
c.1899G>A (p.Glu633=)
c.3177G>A (p.Glu1059=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.75029066G>CCA377296516DUSP29,KAT6Bc.4242G>C (p.Glu1414Asp)
c.3693G>C (p.Glu1231Asp)
c.3366G>C (p.Glu1122Asp)
n.577-2472C>G
c.*3622-2472C>G (n.*3622-2472C>G)
c.4080G>C (p.Glu1360Asp)
c.3204G>C (p.Glu1068Asp)
c.2553G>C (p.Glu851Asp)
c.2157G>C (p.Glu719Asp)
c.1899G>C (p.Glu633Asp)
c.3177G>C (p.Glu1059Asp)
10g.75029066G=CA1920306594DUSP29,KAT6Bc.4242G= (p.Glu1414=)
c.3693G= (p.Glu1231=)
c.3366G= (p.Glu1122=)
n.577-2472C=
c.*3622-2472C= (n.*3622-2472C=)
c.4080G= (p.Glu1360=)
c.3204G= (p.Glu1068=)
c.2553G= (p.Glu851=)
c.2157G= (p.Glu719=)
c.1899G= (p.Glu633=)
c.3177G= (p.Glu1059=)
10g.75029066G>TCA377296517DUSP29,KAT6Bc.4242G>T (p.Glu1414Asp)
c.3693G>T (p.Glu1231Asp)
c.3366G>T (p.Glu1122Asp)
n.577-2472C>A
c.*3622-2472C>A (n.*3622-2472C>A)
c.4080G>T (p.Glu1360Asp)
c.3204G>T (p.Glu1068Asp)
c.2553G>T (p.Glu851Asp)
c.2157G>T (p.Glu719Asp)
c.1899G>T (p.Glu633Asp)
c.3177G>T (p.Glu1059Asp)
10g.75029067G>ACA377296520DUSP29,KAT6Bc.4243G>A (p.Asp1415Asn)
c.3694G>A (p.Asp1232Asn)
c.3367G>A (p.Asp1123Asn)
n.577-2473C>T
c.*3622-2473C>T (n.*3622-2473C>T)
c.4081G>A (p.Asp1361Asn)
c.3205G>A (p.Asp1069Asn)
c.2554G>A (p.Asp852Asn)
c.2158G>A (p.Asp720Asn)
c.1900G>A (p.Asp634Asn)
c.3178G>A (p.Asp1060Asn)
 gnomAD v4
10g.75029067G>CCA377296518DUSP29,KAT6Bc.4243G>C (p.Asp1415His)
c.3694G>C (p.Asp1232His)
c.3367G>C (p.Asp1123His)
n.577-2473C>G
c.*3622-2473C>G (n.*3622-2473C>G)
c.4081G>C (p.Asp1361His)
c.3205G>C (p.Asp1069His)
c.2554G>C (p.Asp852His)
c.2158G>C (p.Asp720His)
c.1900G>C (p.Asp634His)
c.3178G>C (p.Asp1060His)
10g.75029067G>TCA377296519DUSP29,KAT6Bc.4243G>T (p.Asp1415Tyr)
c.3694G>T (p.Asp1232Tyr)
c.3367G>T (p.Asp1123Tyr)
n.577-2473C>A
c.*3622-2473C>A (n.*3622-2473C>A)
c.4081G>T (p.Asp1361Tyr)
c.3205G>T (p.Asp1069Tyr)
c.2554G>T (p.Asp852Tyr)
c.2158G>T (p.Asp720Tyr)
c.1900G>T (p.Asp634Tyr)
c.3178G>T (p.Asp1060Tyr)
10g.75029068A>CCA377296521DUSP29,KAT6Bc.4244A>C (p.Asp1415Ala)
c.3695A>C (p.Asp1232Ala)
c.3368A>C (p.Asp1123Ala)
n.577-2474T>G
c.*3622-2474T>G (n.*3622-2474T>G)
c.4082A>C (p.Asp1361Ala)
c.3206A>C (p.Asp1069Ala)
c.2555A>C (p.Asp852Ala)
c.2159A>C (p.Asp720Ala)
c.1901A>C (p.Asp634Ala)
c.3179A>C (p.Asp1060Ala)
10g.75029068A>GCA377296522DUSP29,KAT6Bc.4244A>G (p.Asp1415Gly)
c.3695A>G (p.Asp1232Gly)
c.3368A>G (p.Asp1123Gly)
n.577-2474T>C
c.*3622-2474T>C (n.*3622-2474T>C)
c.4082A>G (p.Asp1361Gly)
c.3206A>G (p.Asp1069Gly)
c.2555A>G (p.Asp852Gly)
c.2159A>G (p.Asp720Gly)
c.1901A>G (p.Asp634Gly)
c.3179A>G (p.Asp1060Gly)
10g.75029068A>TCA377296523DUSP29,KAT6Bc.4244A>T (p.Asp1415Val)
c.3695A>T (p.Asp1232Val)
c.3368A>T (p.Asp1123Val)
n.577-2474T>A
c.*3622-2474T>A (n.*3622-2474T>A)
c.4082A>T (p.Asp1361Val)
c.3206A>T (p.Asp1069Val)
c.2555A>T (p.Asp852Val)
c.2159A>T (p.Asp720Val)
c.1901A>T (p.Asp634Val)
c.3179A>T (p.Asp1060Val)
10g.75029069T>ACA377296524DUSP29,KAT6Bc.4245T>A (p.Asp1415Glu)
c.3696T>A (p.Asp1232Glu)
c.3369T>A (p.Asp1123Glu)
n.577-2475A>T
c.*3622-2475A>T (n.*3622-2475A>T)
c.4083T>A (p.Asp1361Glu)
c.3207T>A (p.Asp1069Glu)
c.2556T>A (p.Asp852Glu)
c.2160T>A (p.Asp720Glu)
c.1902T>A (p.Asp634Glu)
c.3180T>A (p.Asp1060Glu)
10g.75029069T>CCA470299892DUSP29,KAT6Bc.4245T>C (p.Asp1415=)
c.3696T>C (p.Asp1232=)
c.3369T>C (p.Asp1123=)
n.577-2475A>G
c.*3622-2475A>G (n.*3622-2475A>G)
c.4083T>C (p.Asp1361=)
c.3207T>C (p.Asp1069=)
c.2556T>C (p.Asp852=)
c.2160T>C (p.Asp720=)
c.1902T>C (p.Asp634=)
c.3180T>C (p.Asp1060=)
10g.75029069T>GCA377296525DUSP29,KAT6Bc.4245T>G (p.Asp1415Glu)
c.3696T>G (p.Asp1232Glu)
c.3369T>G (p.Asp1123Glu)
n.577-2475A>C
c.*3622-2475A>C (n.*3622-2475A>C)
c.4083T>G (p.Asp1361Glu)
c.3207T>G (p.Asp1069Glu)
c.2556T>G (p.Asp852Glu)
c.2160T>G (p.Asp720Glu)
c.1902T>G (p.Asp634Glu)
c.3180T>G (p.Asp1060Glu)
 gnomAD v4
10g.75029070G>ACA377296526DUSP29,KAT6Bc.4246G>A (p.Glu1416Lys)
c.3697G>A (p.Glu1233Lys)
c.3370G>A (p.Glu1124Lys)
n.577-2476C>T
c.*3622-2476C>T (n.*3622-2476C>T)
c.4084G>A (p.Glu1362Lys)
c.3208G>A (p.Glu1070Lys)
c.2557G>A (p.Glu853Lys)
c.2161G>A (p.Glu721Lys)
c.1903G>A (p.Glu635Lys)
c.3181G>A (p.Glu1061Lys)
10g.75029070G>CCA377296527DUSP29,KAT6Bc.4246G>C (p.Glu1416Gln)
c.3697G>C (p.Glu1233Gln)
c.3370G>C (p.Glu1124Gln)
n.577-2476C>G
c.*3622-2476C>G (n.*3622-2476C>G)
c.4084G>C (p.Glu1362Gln)
c.3208G>C (p.Glu1070Gln)
c.2557G>C (p.Glu853Gln)
c.2161G>C (p.Glu721Gln)
c.1903G>C (p.Glu635Gln)
c.3181G>C (p.Glu1061Gln)
10g.75029070G>TCA377296528DUSP29,KAT6Bc.4246G>T (p.Glu1416Ter)
c.3697G>T (p.Glu1233Ter)
c.3370G>T (p.Glu1124Ter)
n.577-2476C>A
c.*3622-2476C>A (n.*3622-2476C>A)
c.4084G>T (p.Glu1362Ter)
c.3208G>T (p.Glu1070Ter)
c.2557G>T (p.Glu853Ter)
c.2161G>T (p.Glu721Ter)
c.1903G>T (p.Glu635Ter)
c.3181G>T (p.Glu1061Ter)
10g.75029071A>CCA377296529DUSP29,KAT6Bc.4247A>C (p.Glu1416Ala)
c.3698A>C (p.Glu1233Ala)
c.3371A>C (p.Glu1124Ala)
n.577-2477T>G
c.*3622-2477T>G (n.*3622-2477T>G)
c.4085A>C (p.Glu1362Ala)
c.3209A>C (p.Glu1070Ala)
c.2558A>C (p.Glu853Ala)
c.2162A>C (p.Glu721Ala)
c.1904A>C (p.Glu635Ala)
c.3182A>C (p.Glu1061Ala)
10g.75029071A>GCA377296530DUSP29,KAT6Bc.4247A>G (p.Glu1416Gly)
c.3698A>G (p.Glu1233Gly)
c.3371A>G (p.Glu1124Gly)
n.577-2477T>C
c.*3622-2477T>C (n.*3622-2477T>C)
c.4085A>G (p.Glu1362Gly)
c.3209A>G (p.Glu1070Gly)
c.2558A>G (p.Glu853Gly)
c.2162A>G (p.Glu721Gly)
c.1904A>G (p.Glu635Gly)
c.3182A>G (p.Glu1061Gly)
10g.75029071A>TCA377296531DUSP29,KAT6Bc.4247A>T (p.Glu1416Val)
c.3698A>T (p.Glu1233Val)
c.3371A>T (p.Glu1124Val)
n.577-2477T>A
c.*3622-2477T>A (n.*3622-2477T>A)
c.4085A>T (p.Glu1362Val)
c.3209A>T (p.Glu1070Val)
c.2558A>T (p.Glu853Val)
c.2162A>T (p.Glu721Val)
c.1904A>T (p.Glu635Val)
c.3182A>T (p.Glu1061Val)
10g.75029072A>CCA377296533DUSP29,KAT6Bc.4248A>C (p.Glu1416Asp)
c.3699A>C (p.Glu1233Asp)
c.3372A>C (p.Glu1124Asp)
n.577-2478T>G
c.*3622-2478T>G (n.*3622-2478T>G)
c.4086A>C (p.Glu1362Asp)
c.3210A>C (p.Glu1070Asp)
c.2559A>C (p.Glu853Asp)
c.2163A>C (p.Glu721Asp)
c.1905A>C (p.Glu635Asp)
c.3183A>C (p.Glu1061Asp)
10g.75029072A>GCA470299897DUSP29,KAT6Bc.4248A>G (p.Glu1416=)
c.3699A>G (p.Glu1233=)
c.3372A>G (p.Glu1124=)
n.577-2478T>C
c.*3622-2478T>C (n.*3622-2478T>C)
c.4086A>G (p.Glu1362=)
c.3210A>G (p.Glu1070=)
c.2559A>G (p.Glu853=)
c.2163A>G (p.Glu721=)
c.1905A>G (p.Glu635=)
c.3183A>G (p.Glu1061=)
10g.75029072A>TCA377296532DUSP29,KAT6Bc.4248A>T (p.Glu1416Asp)
c.3699A>T (p.Glu1233Asp)
c.3372A>T (p.Glu1124Asp)
n.577-2478T>A
c.*3622-2478T>A (n.*3622-2478T>A)
c.4086A>T (p.Glu1362Asp)
c.3210A>T (p.Glu1070Asp)
c.2559A>T (p.Glu853Asp)
c.2163A>T (p.Glu721Asp)
c.1905A>T (p.Glu635Asp)
c.3183A>T (p.Glu1061Asp)
10g.75029073G>ACA377296534DUSP29,KAT6Bc.4249G>A (p.Glu1417Lys)
c.3700G>A (p.Glu1234Lys)
c.3373G>A (p.Glu1125Lys)
n.577-2479C>T
c.*3622-2479C>T (n.*3622-2479C>T)
c.4087G>A (p.Glu1363Lys)
c.3211G>A (p.Glu1071Lys)
c.2560G>A (p.Glu854Lys)
c.2164G>A (p.Glu722Lys)
c.1906G>A (p.Glu636Lys)
c.3184G>A (p.Glu1062Lys)
10g.75029073G>CCA377296535DUSP29,KAT6Bc.4249G>C (p.Glu1417Gln)
c.3700G>C (p.Glu1234Gln)
c.3373G>C (p.Glu1125Gln)
n.577-2479C>G
c.*3622-2479C>G (n.*3622-2479C>G)
c.4087G>C (p.Glu1363Gln)
c.3211G>C (p.Glu1071Gln)
c.2560G>C (p.Glu854Gln)
c.2164G>C (p.Glu722Gln)
c.1906G>C (p.Glu636Gln)
c.3184G>C (p.Glu1062Gln)
10g.75029073G>TCA377296536DUSP29,KAT6Bc.4249G>T (p.Glu1417Ter)
c.3700G>T (p.Glu1234Ter)
c.3373G>T (p.Glu1125Ter)
n.577-2479C>A
c.*3622-2479C>A (n.*3622-2479C>A)
c.4087G>T (p.Glu1363Ter)
c.3211G>T (p.Glu1071Ter)
c.2560G>T (p.Glu854Ter)
c.2164G>T (p.Glu722Ter)
c.1906G>T (p.Glu636Ter)
c.3184G>T (p.Glu1062Ter)
10g.75029074A>CCA377296537DUSP29,KAT6Bc.4250A>C (p.Glu1417Ala)
c.3701A>C (p.Glu1234Ala)
c.3374A>C (p.Glu1125Ala)
n.577-2480T>G
c.*3622-2480T>G (n.*3622-2480T>G)
c.4088A>C (p.Glu1363Ala)
c.3212A>C (p.Glu1071Ala)
c.2561A>C (p.Glu854Ala)
c.2165A>C (p.Glu722Ala)
c.1907A>C (p.Glu636Ala)
c.3185A>C (p.Glu1062Ala)
10g.75029074A>GCA377296538DUSP29,KAT6Bc.4250A>G (p.Glu1417Gly)
c.3701A>G (p.Glu1234Gly)
c.3374A>G (p.Glu1125Gly)
n.577-2480T>C
c.*3622-2480T>C (n.*3622-2480T>C)
c.4088A>G (p.Glu1363Gly)
c.3212A>G (p.Glu1071Gly)
c.2561A>G (p.Glu854Gly)
c.2165A>G (p.Glu722Gly)
c.1907A>G (p.Glu636Gly)
c.3185A>G (p.Glu1062Gly)
10g.75029074A>TCA377296539DUSP29,KAT6Bc.4250A>T (p.Glu1417Val)
c.3701A>T (p.Glu1234Val)
c.3374A>T (p.Glu1125Val)
n.577-2480T>A
c.*3622-2480T>A (n.*3622-2480T>A)
c.4088A>T (p.Glu1363Val)
c.3212A>T (p.Glu1071Val)
c.2561A>T (p.Glu854Val)
c.2165A>T (p.Glu722Val)
c.1907A>T (p.Glu636Val)
c.3185A>T (p.Glu1062Val)
10g.75029074dupCA2695212204DUSP29,KAT6Bc.4250dup (p.Pro1418AlafsTer8)
c.3701dup (p.Pro1235AlafsTer8)
c.3374dup (p.Pro1126AlafsTer8)
n.577-2480dup
c.*3622-2480dup (n.*3622-2480dup)
c.4088dup (p.Pro1364AlafsTer8)
c.3212dup (p.Pro1072AlafsTer8)
c.2561dup (p.Pro855AlafsTer8)
c.2165dup (p.Pro723AlafsTer8)
c.1907dup (p.Pro637AlafsTer8)
c.3185dup (p.Pro1063AlafsTer8)
10g.75029075G>ACA5565003DUSP29,KAT6Bc.4251G>A (p.Glu1417=)
c.3702G>A (p.Glu1234=)
c.3375G>A (p.Glu1125=)
n.577-2481C>T
c.*3622-2481C>T (n.*3622-2481C>T)
c.4089G>A (p.Glu1363=)
c.3213G>A (p.Glu1071=)
c.2562G>A (p.Glu854=)
c.2166G>A (p.Glu722=)
c.1908G>A (p.Glu636=)
c.3186G>A (p.Glu1062=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.75029075G>CCA377296541DUSP29,KAT6Bc.4251G>C (p.Glu1417Asp)
c.3702G>C (p.Glu1234Asp)
c.3375G>C (p.Glu1125Asp)
n.577-2481C>G
c.*3622-2481C>G (n.*3622-2481C>G)
c.4089G>C (p.Glu1363Asp)
c.3213G>C (p.Glu1071Asp)
c.2562G>C (p.Glu854Asp)
c.2166G>C (p.Glu722Asp)
c.1908G>C (p.Glu636Asp)
c.3186G>C (p.Glu1062Asp)
10g.75029075G=CA1920306595DUSP29,KAT6Bc.4251G= (p.Glu1417=)
c.3702G= (p.Glu1234=)
c.3375G= (p.Glu1125=)
n.577-2481C=
c.*3622-2481C= (n.*3622-2481C=)
c.4089G= (p.Glu1363=)
c.3213G= (p.Glu1071=)
c.2562G= (p.Glu854=)
c.2166G= (p.Glu722=)
c.1908G= (p.Glu636=)
c.3186G= (p.Glu1062=)
10g.75029075G>TCA377296540DUSP29,KAT6Bc.4251G>T (p.Glu1417Asp)
c.3702G>T (p.Glu1234Asp)
c.3375G>T (p.Glu1125Asp)
n.577-2481C>A
c.*3622-2481C>A (n.*3622-2481C>A)
c.4089G>T (p.Glu1363Asp)
c.3213G>T (p.Glu1071Asp)
c.2562G>T (p.Glu854Asp)
c.2166G>T (p.Glu722Asp)
c.1908G>T (p.Glu636Asp)
c.3186G>T (p.Glu1062Asp)
10g.75029076C>ACA377296542DUSP29,KAT6Bc.4252C>A (p.Pro1418Thr)
c.3703C>A (p.Pro1235Thr)
c.3376C>A (p.Pro1126Thr)
n.577-2482G>T
c.*3622-2482G>T (n.*3622-2482G>T)
c.4090C>A (p.Pro1364Thr)
c.3214C>A (p.Pro1072Thr)
c.2563C>A (p.Pro855Thr)
c.2167C>A (p.Pro723Thr)
c.1909C>A (p.Pro637Thr)
c.3187C>A (p.Pro1063Thr)
10g.75029076C=CA1920306596DUSP29,KAT6Bc.4252C= (p.Pro1418=)
c.3703C= (p.Pro1235=)
c.3376C= (p.Pro1126=)
n.577-2482G=
c.*3622-2482G= (n.*3622-2482G=)
c.4090C= (p.Pro1364=)
c.3214C= (p.Pro1072=)
c.2563C= (p.Pro855=)
c.2167C= (p.Pro723=)
c.1909C= (p.Pro637=)
c.3187C= (p.Pro1063=)
10g.75029076C>GCA377296543DUSP29,KAT6Bc.4252C>G (p.Pro1418Ala)
c.3703C>G (p.Pro1235Ala)
c.3376C>G (p.Pro1126Ala)
n.577-2482G>C
c.*3622-2482G>C (n.*3622-2482G>C)
c.4090C>G (p.Pro1364Ala)
c.3214C>G (p.Pro1072Ala)
c.2563C>G (p.Pro855Ala)
c.2167C>G (p.Pro723Ala)
c.1909C>G (p.Pro637Ala)
c.3187C>G (p.Pro1063Ala)
10g.75029076C>TCA5565004DUSP29,KAT6Bc.4252C>T (p.Pro1418Ser)
c.3703C>T (p.Pro1235Ser)
c.3376C>T (p.Pro1126Ser)
n.577-2482G>A
c.*3622-2482G>A (n.*3622-2482G>A)
c.4090C>T (p.Pro1364Ser)
c.3214C>T (p.Pro1072Ser)
c.2563C>T (p.Pro855Ser)
c.2167C>T (p.Pro723Ser)
c.1909C>T (p.Pro637Ser)
c.3187C>T (p.Pro1063Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.75029077C>ACA377296544DUSP29,KAT6Bc.4253C>A (p.Pro1418Gln)
c.3704C>A (p.Pro1235Gln)
c.3377C>A (p.Pro1126Gln)
n.577-2483G>T
c.*3622-2483G>T (n.*3622-2483G>T)
c.4091C>A (p.Pro1364Gln)
c.3215C>A (p.Pro1072Gln)
c.2564C>A (p.Pro855Gln)
c.2168C>A (p.Pro723Gln)
c.1910C>A (p.Pro637Gln)
c.3188C>A (p.Pro1063Gln)
10g.75029077C>GCA377296545DUSP29,KAT6Bc.4253C>G (p.Pro1418Arg)
c.3704C>G (p.Pro1235Arg)
c.3377C>G (p.Pro1126Arg)
n.577-2483G>C
c.*3622-2483G>C (n.*3622-2483G>C)
c.4091C>G (p.Pro1364Arg)
c.3215C>G (p.Pro1072Arg)
c.2564C>G (p.Pro855Arg)
c.2168C>G (p.Pro723Arg)
c.1910C>G (p.Pro637Arg)
c.3188C>G (p.Pro1063Arg)
10g.75029077C>TCA377296546DUSP29,KAT6Bc.4253C>T (p.Pro1418Leu)
c.3704C>T (p.Pro1235Leu)
c.3377C>T (p.Pro1126Leu)
n.577-2483G>A
c.*3622-2483G>A (n.*3622-2483G>A)
c.4091C>T (p.Pro1364Leu)
c.3215C>T (p.Pro1072Leu)
c.2564C>T (p.Pro855Leu)
c.2168C>T (p.Pro723Leu)
c.1910C>T (p.Pro637Leu)
c.3188C>T (p.Pro1063Leu)
 gnomAD v4
10g.75029078A>CCA470299904DUSP29,KAT6Bc.4254A>C (p.Pro1418=)
c.3705A>C (p.Pro1235=)
c.3378A>C (p.Pro1126=)
n.577-2484T>G
c.*3622-2484T>G (n.*3622-2484T>G)
c.4092A>C (p.Pro1364=)
c.3216A>C (p.Pro1072=)
c.2565A>C (p.Pro855=)
c.2169A>C (p.Pro723=)
c.1911A>C (p.Pro637=)
c.3189A>C (p.Pro1063=)
10g.75029078A>GCA470299906DUSP29,KAT6Bc.4254A>G (p.Pro1418=)
c.3705A>G (p.Pro1235=)
c.3378A>G (p.Pro1126=)
n.577-2484T>C
c.*3622-2484T>C (n.*3622-2484T>C)
c.4092A>G (p.Pro1364=)
c.3216A>G (p.Pro1072=)
c.2565A>G (p.Pro855=)
c.2169A>G (p.Pro723=)
c.1911A>G (p.Pro637=)
c.3189A>G (p.Pro1063=)
10g.75029078A>TCA470299907DUSP29,KAT6Bc.4254A>T (p.Pro1418=)
c.3705A>T (p.Pro1235=)
c.3378A>T (p.Pro1126=)
n.577-2484T>A
c.*3622-2484T>A (n.*3622-2484T>A)
c.4092A>T (p.Pro1364=)
c.3216A>T (p.Pro1072=)
c.2565A>T (p.Pro855=)
c.2169A>T (p.Pro723=)
c.1911A>T (p.Pro637=)
c.3189A>T (p.Pro1063=)
10g.75029079T>ACA377296547DUSP29,KAT6Bc.4255T>A (p.Ser1419Thr)
c.3706T>A (p.Ser1236Thr)
c.3379T>A (p.Ser1127Thr)
n.577-2485A>T
c.*3622-2485A>T (n.*3622-2485A>T)
c.4093T>A (p.Ser1365Thr)
c.3217T>A (p.Ser1073Thr)
c.2566T>A (p.Ser856Thr)
c.2170T>A (p.Ser724Thr)
c.1912T>A (p.Ser638Thr)
c.3190T>A (p.Ser1064Thr)
10g.75029079T>CCA377296549DUSP29,KAT6Bc.4255T>C (p.Ser1419Pro)
c.3706T>C (p.Ser1236Pro)
c.3379T>C (p.Ser1127Pro)
n.577-2485A>G
c.*3622-2485A>G (n.*3622-2485A>G)
c.4093T>C (p.Ser1365Pro)
c.3217T>C (p.Ser1073Pro)
c.2566T>C (p.Ser856Pro)
c.2170T>C (p.Ser724Pro)
c.1912T>C (p.Ser638Pro)
c.3190T>C (p.Ser1064Pro)
10g.75029079T>GCA377296548DUSP29,KAT6Bc.4255T>G (p.Ser1419Ala)
c.3706T>G (p.Ser1236Ala)
c.3379T>G (p.Ser1127Ala)
n.577-2485A>C
c.*3622-2485A>C (n.*3622-2485A>C)
c.4093T>G (p.Ser1365Ala)
c.3217T>G (p.Ser1073Ala)
c.2566T>G (p.Ser856Ala)
c.2170T>G (p.Ser724Ala)
c.1912T>G (p.Ser638Ala)
c.3190T>G (p.Ser1064Ala)
10g.75029080C>ACA377296550DUSP29,KAT6Bc.4256C>A (p.Ser1419Tyr)
c.3707C>A (p.Ser1236Tyr)
c.3380C>A (p.Ser1127Tyr)
n.577-2486G>T
c.*3622-2486G>T (n.*3622-2486G>T)
c.4094C>A (p.Ser1365Tyr)
c.3218C>A (p.Ser1073Tyr)
c.2567C>A (p.Ser856Tyr)
c.2171C>A (p.Ser724Tyr)
c.1913C>A (p.Ser638Tyr)
c.3191C>A (p.Ser1064Tyr)
10g.75029080C>GCA377296551DUSP29,KAT6Bc.4256C>G (p.Ser1419Cys)
c.3707C>G (p.Ser1236Cys)
c.3380C>G (p.Ser1127Cys)
n.577-2486G>C
c.*3622-2486G>C (n.*3622-2486G>C)
c.4094C>G (p.Ser1365Cys)
c.3218C>G (p.Ser1073Cys)
c.2567C>G (p.Ser856Cys)
c.2171C>G (p.Ser724Cys)
c.1913C>G (p.Ser638Cys)
c.3191C>G (p.Ser1064Cys)
10g.75029080C>TCA377296552DUSP29,KAT6Bc.4256C>T (p.Ser1419Phe)
c.3707C>T (p.Ser1236Phe)
c.3380C>T (p.Ser1127Phe)
n.577-2486G>A
c.*3622-2486G>A (n.*3622-2486G>A)
c.4094C>T (p.Ser1365Phe)
c.3218C>T (p.Ser1073Phe)
c.2567C>T (p.Ser856Phe)
c.2171C>T (p.Ser724Phe)
c.1913C>T (p.Ser638Phe)
c.3191C>T (p.Ser1064Phe)
10g.75029081C>ACA470299913DUSP29,KAT6Bc.4257C>A (p.Ser1419=)
c.3708C>A (p.Ser1236=)
c.3381C>A (p.Ser1127=)
n.577-2487G>T
c.*3622-2487G>T (n.*3622-2487G>T)
c.4095C>A (p.Ser1365=)
c.3219C>A (p.Ser1073=)
c.2568C>A (p.Ser856=)
c.2172C>A (p.Ser724=)
c.1914C>A (p.Ser638=)
c.3192C>A (p.Ser1064=)
10g.75029081C=CA1920306597DUSP29,KAT6Bc.4257C= (p.Ser1419=)
c.3708C= (p.Ser1236=)
c.3381C= (p.Ser1127=)
n.577-2487G=
c.*3622-2487G= (n.*3622-2487G=)
c.4095C= (p.Ser1365=)
c.3219C= (p.Ser1073=)
c.2568C= (p.Ser856=)
c.2172C= (p.Ser724=)
c.1914C= (p.Ser638=)
c.3192C= (p.Ser1064=)
10g.75029081C>GCA470299912DUSP29,KAT6Bc.4257C>G (p.Ser1419=)
c.3708C>G (p.Ser1236=)
c.3381C>G (p.Ser1127=)
n.577-2487G>C
c.*3622-2487G>C (n.*3622-2487G>C)
c.4095C>G (p.Ser1365=)
c.3219C>G (p.Ser1073=)
c.2568C>G (p.Ser856=)
c.2172C>G (p.Ser724=)
c.1914C>G (p.Ser638=)
c.3192C>G (p.Ser1064=)
10g.75029081C>TCA5565005DUSP29,KAT6Bc.4257C>T (p.Ser1419=)
c.3708C>T (p.Ser1236=)
c.3381C>T (p.Ser1127=)
n.577-2487G>A
c.*3622-2487G>A (n.*3622-2487G>A)
c.4095C>T (p.Ser1365=)
c.3219C>T (p.Ser1073=)
c.2568C>T (p.Ser856=)
c.2172C>T (p.Ser724=)
c.1914C>T (p.Ser638=)
c.3192C>T (p.Ser1064=)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.75029082C>ACA377296553DUSP29,KAT6Bc.4258C>A (p.His1420Asn)
c.3709C>A (p.His1237Asn)
c.3382C>A (p.His1128Asn)
n.577-2488G>T
c.*3622-2488G>T (n.*3622-2488G>T)
c.4096C>A (p.His1366Asn)
c.3220C>A (p.His1074Asn)
c.2569C>A (p.His857Asn)
c.2173C>A (p.His725Asn)
c.1915C>A (p.His639Asn)
c.3193C>A (p.His1065Asn)
10g.75029082C>GCA377296554DUSP29,KAT6Bc.4258C>G (p.His1420Asp)
c.3709C>G (p.His1237Asp)
c.3382C>G (p.His1128Asp)
n.577-2488G>C
c.*3622-2488G>C (n.*3622-2488G>C)
c.4096C>G (p.His1366Asp)
c.3220C>G (p.His1074Asp)
c.2569C>G (p.His857Asp)
c.2173C>G (p.His725Asp)
c.1915C>G (p.His639Asp)
c.3193C>G (p.His1065Asp)
10g.75029082C>TCA377296555DUSP29,KAT6Bc.4258C>T (p.His1420Tyr)
c.3709C>T (p.His1237Tyr)
c.3382C>T (p.His1128Tyr)
n.577-2488G>A
c.*3622-2488G>A (n.*3622-2488G>A)
c.4096C>T (p.His1366Tyr)
c.3220C>T (p.His1074Tyr)
c.2569C>T (p.His857Tyr)
c.2173C>T (p.His725Tyr)
c.1915C>T (p.His639Tyr)
c.3193C>T (p.His1065Tyr)
10g.75029083A=CA1920306598DUSP29,KAT6Bc.4259A= (p.His1420=)
c.3710A= (p.His1237=)
c.3383A= (p.His1128=)
n.577-2489T=
c.*3622-2489T= (n.*3622-2489T=)
c.4097A= (p.His1366=)
c.3221A= (p.His1074=)
c.2570A= (p.His857=)
c.2174A= (p.His725=)
c.1916A= (p.His639=)
c.3194A= (p.His1065=)
10g.75029083A>CCA377296556DUSP29,KAT6Bc.4259A>C (p.His1420Pro)
c.3710A>C (p.His1237Pro)
c.3383A>C (p.His1128Pro)
n.577-2489T>G
c.*3622-2489T>G (n.*3622-2489T>G)
c.4097A>C (p.His1366Pro)
c.3221A>C (p.His1074Pro)
c.2570A>C (p.His857Pro)
c.2174A>C (p.His725Pro)
c.1916A>C (p.His639Pro)
c.3194A>C (p.His1065Pro)
10g.75029083A>GCA377296557DUSP29,KAT6Bc.4259A>G (p.His1420Arg)
c.3710A>G (p.His1237Arg)
c.3383A>G (p.His1128Arg)
n.577-2489T>C
c.*3622-2489T>C (n.*3622-2489T>C)
c.4097A>G (p.His1366Arg)
c.3221A>G (p.His1074Arg)
c.2570A>G (p.His857Arg)
c.2174A>G (p.His725Arg)
c.1916A>G (p.His639Arg)
c.3194A>G (p.His1065Arg)
 dbSNP gnomAD v2 gnomAD v4
10g.75029083A>TCA377296558DUSP29,KAT6Bc.4259A>T (p.His1420Leu)
c.3710A>T (p.His1237Leu)
c.3383A>T (p.His1128Leu)
n.577-2489T>A
c.*3622-2489T>A (n.*3622-2489T>A)
c.4097A>T (p.His1366Leu)
c.3221A>T (p.His1074Leu)
c.2570A>T (p.His857Leu)
c.2174A>T (p.His725Leu)
c.1916A>T (p.His639Leu)
c.3194A>T (p.His1065Leu)
10g.75029084C>ACA377296559DUSP29,KAT6Bc.4260C>A (p.His1420Gln)
c.3711C>A (p.His1237Gln)
c.3384C>A (p.His1128Gln)
n.577-2490G>T
c.*3622-2490G>T (n.*3622-2490G>T)
c.4098C>A (p.His1366Gln)
c.3222C>A (p.His1074Gln)
c.2571C>A (p.His857Gln)
c.2175C>A (p.His725Gln)
c.1917C>A (p.His639Gln)
c.3195C>A (p.His1065Gln)
10g.75029084C>GCA377296560DUSP29,KAT6Bc.4260C>G (p.His1420Gln)
c.3711C>G (p.His1237Gln)
c.3384C>G (p.His1128Gln)
n.577-2490G>C
c.*3622-2490G>C (n.*3622-2490G>C)
c.4098C>G (p.His1366Gln)
c.3222C>G (p.His1074Gln)
c.2571C>G (p.His857Gln)
c.2175C>G (p.His725Gln)
c.1917C>G (p.His639Gln)
c.3195C>G (p.His1065Gln)
 gnomAD v4
10g.75029084C>TCA470299915DUSP29,KAT6Bc.4260C>T (p.His1420=)
c.3711C>T (p.His1237=)
c.3384C>T (p.His1128=)
n.577-2490G>A
c.*3622-2490G>A (n.*3622-2490G>A)
c.4098C>T (p.His1366=)
c.3222C>T (p.His1074=)
c.2571C>T (p.His857=)
c.2175C>T (p.His725=)
c.1917C>T (p.His639=)
c.3195C>T (p.His1065=)
10g.75029085A>CCA377296562DUSP29,KAT6Bc.4261A>C (p.Asn1421His)
c.3712A>C (p.Asn1238His)
c.3385A>C (p.Asn1129His)
n.577-2491T>G
c.*3622-2491T>G (n.*3622-2491T>G)
c.4099A>C (p.Asn1367His)
c.3223A>C (p.Asn1075His)
c.2572A>C (p.Asn858His)
c.2176A>C (p.Asn726His)
c.1918A>C (p.Asn640His)
c.3196A>C (p.Asn1066His)
10g.75029085A>GCA377296563DUSP29,KAT6Bc.4261A>G (p.Asn1421Asp)
c.3712A>G (p.Asn1238Asp)
c.3385A>G (p.Asn1129Asp)
n.577-2491T>C
c.*3622-2491T>C (n.*3622-2491T>C)
c.4099A>G (p.Asn1367Asp)
c.3223A>G (p.Asn1075Asp)
c.2572A>G (p.Asn858Asp)
c.2176A>G (p.Asn726Asp)
c.1918A>G (p.Asn640Asp)
c.3196A>G (p.Asn1066Asp)
10g.75029085A>TCA377296561DUSP29,KAT6Bc.4261A>T (p.Asn1421Tyr)
c.3712A>T (p.Asn1238Tyr)
c.3385A>T (p.Asn1129Tyr)
n.577-2491T>A
c.*3622-2491T>A (n.*3622-2491T>A)
c.4099A>T (p.Asn1367Tyr)
c.3223A>T (p.Asn1075Tyr)
c.2572A>T (p.Asn858Tyr)
c.2176A>T (p.Asn726Tyr)
c.1918A>T (p.Asn640Tyr)
c.3196A>T (p.Asn1066Tyr)
10g.75029086A>CCA377296564DUSP29,KAT6Bc.4262A>C (p.Asn1421Thr)
c.3713A>C (p.Asn1238Thr)
c.3386A>C (p.Asn1129Thr)
n.577-2492T>G
c.*3622-2492T>G (n.*3622-2492T>G)
c.4100A>C (p.Asn1367Thr)
c.3224A>C (p.Asn1075Thr)
c.2573A>C (p.Asn858Thr)
c.2177A>C (p.Asn726Thr)
c.1919A>C (p.Asn640Thr)
c.3197A>C (p.Asn1066Thr)
10g.75029086A>GCA377296566DUSP29,KAT6Bc.4262A>G (p.Asn1421Ser)
c.3713A>G (p.Asn1238Ser)
c.3386A>G (p.Asn1129Ser)
n.577-2492T>C
c.*3622-2492T>C (n.*3622-2492T>C)
c.4100A>G (p.Asn1367Ser)
c.3224A>G (p.Asn1075Ser)
c.2573A>G (p.Asn858Ser)
c.2177A>G (p.Asn726Ser)
c.1919A>G (p.Asn640Ser)
c.3197A>G (p.Asn1066Ser)
10g.75029086A>TCA377296565DUSP29,KAT6Bc.4262A>T (p.Asn1421Ile)
c.3713A>T (p.Asn1238Ile)
c.3386A>T (p.Asn1129Ile)
n.577-2492T>A
c.*3622-2492T>A (n.*3622-2492T>A)
c.4100A>T (p.Asn1367Ile)
c.3224A>T (p.Asn1075Ile)
c.2573A>T (p.Asn858Ile)
c.2177A>T (p.Asn726Ile)
c.1919A>T (p.Asn640Ile)
c.3197A>T (p.Asn1066Ile)
10g.75029087C>ACA377296567DUSP29,KAT6Bc.4263C>A (p.Asn1421Lys)
c.3714C>A (p.Asn1238Lys)
c.3387C>A (p.Asn1129Lys)
n.577-2493G>T
c.*3622-2493G>T (n.*3622-2493G>T)
c.4101C>A (p.Asn1367Lys)
c.3225C>A (p.Asn1075Lys)
c.2574C>A (p.Asn858Lys)
c.2178C>A (p.Asn726Lys)
c.1920C>A (p.Asn640Lys)
c.3198C>A (p.Asn1066Lys)
10g.75029087C=CA1920306599DUSP29,KAT6Bc.4263C= (p.Asn1421=)
c.3714C= (p.Asn1238=)
c.3387C= (p.Asn1129=)
n.577-2493G=
c.*3622-2493G= (n.*3622-2493G=)
c.4101C= (p.Asn1367=)
c.3225C= (p.Asn1075=)
c.2574C= (p.Asn858=)
c.2178C= (p.Asn726=)
c.1920C= (p.Asn640=)
c.3198C= (p.Asn1066=)
10g.75029087C>GCA377296568DUSP29,KAT6Bc.4263C>G (p.Asn1421Lys)
c.3714C>G (p.Asn1238Lys)
c.3387C>G (p.Asn1129Lys)
n.577-2493G>C
c.*3622-2493G>C (n.*3622-2493G>C)
c.4101C>G (p.Asn1367Lys)
c.3225C>G (p.Asn1075Lys)
c.2574C>G (p.Asn858Lys)
c.2178C>G (p.Asn726Lys)
c.1920C>G (p.Asn640Lys)
c.3198C>G (p.Asn1066Lys)
 dbSNP gnomAD v3 gnomAD v4
10g.75029087C>TCA5565006DUSP29,KAT6Bc.4263C>T (p.Asn1421=)
c.3714C>T (p.Asn1238=)
c.3387C>T (p.Asn1129=)
n.577-2493G>A
c.*3622-2493G>A (n.*3622-2493G>A)
c.4101C>T (p.Asn1367=)
c.3225C>T (p.Asn1075=)
c.2574C>T (p.Asn858=)
c.2178C>T (p.Asn726=)
c.1920C>T (p.Asn640=)
c.3198C>T (p.Asn1066=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.75029088G>ACA377296569DUSP29,KAT6Bc.4264G>A (p.Glu1422Lys)
c.3715G>A (p.Glu1239Lys)
c.3388G>A (p.Glu1130Lys)
n.577-2494C>T
c.*3622-2494C>T (n.*3622-2494C>T)
c.4102G>A (p.Glu1368Lys)
c.3226G>A (p.Glu1076Lys)
c.2575G>A (p.Glu859Lys)
c.2179G>A (p.Glu727Lys)
c.1921G>A (p.Glu641Lys)
c.3199G>A (p.Glu1067Lys)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.75029088G>CCA377296570DUSP29,KAT6Bc.4264G>C (p.Glu1422Gln)
c.3715G>C (p.Glu1239Gln)
c.3388G>C (p.Glu1130Gln)
n.577-2494C>G
c.*3622-2494C>G (n.*3622-2494C>G)
c.4102G>C (p.Glu1368Gln)
c.3226G>C (p.Glu1076Gln)
c.2575G>C (p.Glu859Gln)
c.2179G>C (p.Glu727Gln)
c.1921G>C (p.Glu641Gln)
c.3199G>C (p.Glu1067Gln)
10g.75029088G=CA1920306600DUSP29,KAT6Bc.4264G= (p.Glu1422=)
c.3715G= (p.Glu1239=)
c.3388G= (p.Glu1130=)
n.577-2494C=
c.*3622-2494C= (n.*3622-2494C=)
c.4102G= (p.Glu1368=)
c.3226G= (p.Glu1076=)
c.2575G= (p.Glu859=)
c.2179G= (p.Glu727=)
c.1921G= (p.Glu641=)
c.3199G= (p.Glu1067=)
10g.75029088G>TCA377296571DUSP29,KAT6Bc.4264G>T (p.Glu1422Ter)
c.3715G>T (p.Glu1239Ter)
c.3388G>T (p.Glu1130Ter)
n.577-2494C>A
c.*3622-2494C>A (n.*3622-2494C>A)
c.4102G>T (p.Glu1368Ter)
c.3226G>T (p.Glu1076Ter)
c.2575G>T (p.Glu859Ter)
c.2179G>T (p.Glu727Ter)
c.1921G>T (p.Glu641Ter)
c.3199G>T (p.Glu1067Ter)
10g.75029089A=CA1920306601DUSP29,KAT6Bc.4265A= (p.Glu1422=)
c.3716A= (p.Glu1239=)
c.3389A= (p.Glu1130=)
n.577-2495T=
c.*3622-2495T= (n.*3622-2495T=)
c.4103A= (p.Glu1368=)
c.3227A= (p.Glu1076=)
c.2576A= (p.Glu859=)
c.2180A= (p.Glu727=)
c.1922A= (p.Glu641=)
c.3200A= (p.Glu1067=)
10g.75029089A>CCA377296572DUSP29,KAT6Bc.4265A>C (p.Glu1422Ala)
c.3716A>C (p.Glu1239Ala)
c.3389A>C (p.Glu1130Ala)
n.577-2495T>G
c.*3622-2495T>G (n.*3622-2495T>G)
c.4103A>C (p.Glu1368Ala)
c.3227A>C (p.Glu1076Ala)
c.2576A>C (p.Glu859Ala)
c.2180A>C (p.Glu727Ala)
c.1922A>C (p.Glu641Ala)
c.3200A>C (p.Glu1067Ala)
10g.75029089A>GCA5565007DUSP29,KAT6Bc.4265A>G (p.Glu1422Gly)
c.3716A>G (p.Glu1239Gly)
c.3389A>G (p.Glu1130Gly)
n.577-2495T>C
c.*3622-2495T>C (n.*3622-2495T>C)
c.4103A>G (p.Glu1368Gly)
c.3227A>G (p.Glu1076Gly)
c.2576A>G (p.Glu859Gly)
c.2180A>G (p.Glu727Gly)
c.1922A>G (p.Glu641Gly)
c.3200A>G (p.Glu1067Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.75029089A>TCA377296573DUSP29,KAT6Bc.4265A>T (p.Glu1422Val)
c.3716A>T (p.Glu1239Val)
c.3389A>T (p.Glu1130Val)
n.577-2495T>A
c.*3622-2495T>A (n.*3622-2495T>A)
c.4103A>T (p.Glu1368Val)
c.3227A>T (p.Glu1076Val)
c.2576A>T (p.Glu859Val)
c.2180A>T (p.Glu727Val)
c.1922A>T (p.Glu641Val)
c.3200A>T (p.Glu1067Val)
10g.75029090G>ACA470299925DUSP29,KAT6Bc.4266G>A (p.Glu1422=)
c.3717G>A (p.Glu1239=)
c.3390G>A (p.Glu1130=)
n.577-2496C>T
c.*3622-2496C>T (n.*3622-2496C>T)
c.4104G>A (p.Glu1368=)
c.3228G>A (p.Glu1076=)
c.2577G>A (p.Glu859=)
c.2181G>A (p.Glu727=)
c.1923G>A (p.Glu641=)
c.3201G>A (p.Glu1067=)
10g.75029090G>CCA377296574DUSP29,KAT6Bc.4266G>C (p.Glu1422Asp)
c.3717G>C (p.Glu1239Asp)
c.3390G>C (p.Glu1130Asp)
n.577-2496C>G
c.*3622-2496C>G (n.*3622-2496C>G)
c.4104G>C (p.Glu1368Asp)
c.3228G>C (p.Glu1076Asp)
c.2577G>C (p.Glu859Asp)
c.2181G>C (p.Glu727Asp)
c.1923G>C (p.Glu641Asp)
c.3201G>C (p.Glu1067Asp)
10g.75029090G>TCA377296575DUSP29,KAT6Bc.4266G>T (p.Glu1422Asp)
c.3717G>T (p.Glu1239Asp)
c.3390G>T (p.Glu1130Asp)
n.577-2496C>A
c.*3622-2496C>A (n.*3622-2496C>A)
c.4104G>T (p.Glu1368Asp)
c.3228G>T (p.Glu1076Asp)
c.2577G>T (p.Glu859Asp)
c.2181G>T (p.Glu727Asp)
c.1923G>T (p.Glu641Asp)
c.3201G>T (p.Glu1067Asp)
10g.75029091G>ACA377296576DUSP29,KAT6Bc.4267G>A (p.Asp1423Asn)
c.3718G>A (p.Asp1240Asn)
c.3391G>A (p.Asp1131Asn)
n.577-2497C>T
c.*3622-2497C>T (n.*3622-2497C>T)
c.4105G>A (p.Asp1369Asn)
c.3229G>A (p.Asp1077Asn)
c.2578G>A (p.Asp860Asn)
c.2182G>A (p.Asp728Asn)
c.1924G>A (p.Asp642Asn)
c.3202G>A (p.Asp1068Asn)
 dbSNP
10g.75029091G>CCA377296577DUSP29,KAT6Bc.4267G>C (p.Asp1423His)
c.3718G>C (p.Asp1240His)
c.3391G>C (p.Asp1131His)
n.577-2497C>G
c.*3622-2497C>G (n.*3622-2497C>G)
c.4105G>C (p.Asp1369His)
c.3229G>C (p.Asp1077His)
c.2578G>C (p.Asp860His)
c.2182G>C (p.Asp728His)
c.1924G>C (p.Asp642His)
c.3202G>C (p.Asp1068His)
10g.75029091G=CA1920306602DUSP29,KAT6Bc.4267G= (p.Asp1423=)
c.3718G= (p.Asp1240=)
c.3391G= (p.Asp1131=)
n.577-2497C=
c.*3622-2497C= (n.*3622-2497C=)
c.4105G= (p.Asp1369=)
c.3229G= (p.Asp1077=)
c.2578G= (p.Asp860=)
c.2182G= (p.Asp728=)
c.1924G= (p.Asp642=)
c.3202G= (p.Asp1068=)
10g.75029091G>TCA377296578DUSP29,KAT6Bc.4267G>T (p.Asp1423Tyr)
c.3718G>T (p.Asp1240Tyr)
c.3391G>T (p.Asp1131Tyr)
n.577-2497C>A
c.*3622-2497C>A (n.*3622-2497C>A)
c.4105G>T (p.Asp1369Tyr)
c.3229G>T (p.Asp1077Tyr)
c.2578G>T (p.Asp860Tyr)
c.2182G>T (p.Asp728Tyr)
c.1924G>T (p.Asp642Tyr)
c.3202G>T (p.Asp1068Tyr)
10g.75029092A=CA1920306603DUSP29,KAT6Bc.4268A= (p.Asp1423=)
c.3719A= (p.Asp1240=)
c.3392A= (p.Asp1131=)
n.577-2498T=
c.*3622-2498T= (n.*3622-2498T=)
c.4106A= (p.Asp1369=)
c.3230A= (p.Asp1077=)
c.2579A= (p.Asp860=)
c.2183A= (p.Asp728=)
c.1925A= (p.Asp642=)
c.3203A= (p.Asp1068=)
10g.75029092A>CCA377296581DUSP29,KAT6Bc.4268A>C (p.Asp1423Ala)
c.3719A>C (p.Asp1240Ala)
c.3392A>C (p.Asp1131Ala)
n.577-2498T>G
c.*3622-2498T>G (n.*3622-2498T>G)
c.4106A>C (p.Asp1369Ala)
c.3230A>C (p.Asp1077Ala)
c.2579A>C (p.Asp860Ala)
c.2183A>C (p.Asp728Ala)
c.1925A>C (p.Asp642Ala)
c.3203A>C (p.Asp1068Ala)
10g.75029092A>GCA377296580DUSP29,KAT6Bc.4268A>G (p.Asp1423Gly)
c.3719A>G (p.Asp1240Gly)
c.3392A>G (p.Asp1131Gly)
n.577-2498T>C
c.*3622-2498T>C (n.*3622-2498T>C)
c.4106A>G (p.Asp1369Gly)
c.3230A>G (p.Asp1077Gly)
c.2579A>G (p.Asp860Gly)
c.2183A>G (p.Asp728Gly)
c.1925A>G (p.Asp642Gly)
c.3203A>G (p.Asp1068Gly)
10g.75029092A>TCA377296579DUSP29,KAT6Bc.4268A>T (p.Asp1423Val)
c.3719A>T (p.Asp1240Val)
c.3392A>T (p.Asp1131Val)
n.577-2498T>A
c.*3622-2498T>A (n.*3622-2498T>A)
c.4106A>T (p.Asp1369Val)
c.3230A>T (p.Asp1077Val)
c.2579A>T (p.Asp860Val)
c.2183A>T (p.Asp728Val)
c.1925A>T (p.Asp642Val)
c.3203A>T (p.Asp1068Val)
 dbSNP gnomAD v2 gnomAD v4
10g.75029093C>ACA377296582DUSP29,KAT6Bc.4269C>A (p.Asp1423Glu)
c.3720C>A (p.Asp1240Glu)
c.3393C>A (p.Asp1131Glu)
n.577-2499G>T
c.*3622-2499G>T (n.*3622-2499G>T)
c.4107C>A (p.Asp1369Glu)
c.3231C>A (p.Asp1077Glu)
c.2580C>A (p.Asp860Glu)
c.2184C>A (p.Asp728Glu)
c.1926C>A (p.Asp642Glu)
c.3204C>A (p.Asp1068Glu)
 dbSNP gnomAD v2 gnomAD v4
10g.75029093C=CA1920306604DUSP29,KAT6Bc.4269C= (p.Asp1423=)
c.3720C= (p.Asp1240=)
c.3393C= (p.Asp1131=)
n.577-2499G=
c.*3622-2499G= (n.*3622-2499G=)
c.4107C= (p.Asp1369=)
c.3231C= (p.Asp1077=)
c.2580C= (p.Asp860=)
c.2184C= (p.Asp728=)
c.1926C= (p.Asp642=)
c.3204C= (p.Asp1068=)
10g.75029093C>GCA377296583DUSP29,KAT6Bc.4269C>G (p.Asp1423Glu)
c.3720C>G (p.Asp1240Glu)
c.3393C>G (p.Asp1131Glu)
n.577-2499G>C
c.*3622-2499G>C (n.*3622-2499G>C)
c.4107C>G (p.Asp1369Glu)
c.3231C>G (p.Asp1077Glu)
c.2580C>G (p.Asp860Glu)
c.2184C>G (p.Asp728Glu)
c.1926C>G (p.Asp642Glu)
c.3204C>G (p.Asp1068Glu)
10g.75029093C>TCA470299934DUSP29,KAT6Bc.4269C>T (p.Asp1423=)
c.3720C>T (p.Asp1240=)
c.3393C>T (p.Asp1131=)
n.577-2499G>A
c.*3622-2499G>A (n.*3622-2499G>A)
c.4107C>T (p.Asp1369=)
c.3231C>T (p.Asp1077=)
c.2580C>T (p.Asp860=)
c.2184C>T (p.Asp728=)
c.1926C>T (p.Asp642=)
c.3204C>T (p.Asp1068=)
10g.75029094C>ACA377296584DUSP29,KAT6Bc.4270C>A (p.His1424Asn)
c.3721C>A (p.His1241Asn)
c.3394C>A (p.His1132Asn)
n.577-2500G>T
c.*3622-2500G>T (n.*3622-2500G>T)
c.4108C>A (p.His1370Asn)
c.3232C>A (p.His1078Asn)
c.2581C>A (p.His861Asn)
c.2185C>A (p.His729Asn)
c.1927C>A (p.His643Asn)
c.3205C>A (p.His1069Asn)
10g.75029094C=CA1920306605DUSP29,KAT6Bc.4270C= (p.His1424=)
c.3721C= (p.His1241=)
c.3394C= (p.His1132=)
n.577-2500G=
c.*3622-2500G= (n.*3622-2500G=)
c.4108C= (p.His1370=)
c.3232C= (p.His1078=)
c.2581C= (p.His861=)
c.2185C= (p.His729=)
c.1927C= (p.His643=)
c.3205C= (p.His1069=)
10g.75029094C>GCA377296585DUSP29,KAT6Bc.4270C>G (p.His1424Asp)
c.3721C>G (p.His1241Asp)
c.3394C>G (p.His1132Asp)
n.577-2500G>C
c.*3622-2500G>C (n.*3622-2500G>C)
c.4108C>G (p.His1370Asp)
c.3232C>G (p.His1078Asp)
c.2581C>G (p.His861Asp)
c.2185C>G (p.His729Asp)
c.1927C>G (p.His643Asp)
c.3205C>G (p.His1069Asp)
 dbSNP gnomAD v4
10g.75029094C>TCA377296586DUSP29,KAT6Bc.4270C>T (p.His1424Tyr)
c.3721C>T (p.His1241Tyr)
c.3394C>T (p.His1132Tyr)
n.577-2500G>A
c.*3622-2500G>A (n.*3622-2500G>A)
c.4108C>T (p.His1370Tyr)
c.3232C>T (p.His1078Tyr)
c.2581C>T (p.His861Tyr)
c.2185C>T (p.His729Tyr)
c.1927C>T (p.His643Tyr)
c.3205C>T (p.His1069Tyr)
10g.75029095A=CA1920306606DUSP29,KAT6Bc.4271A= (p.His1424=)
c.3722A= (p.His1241=)
c.3395A= (p.His1132=)
n.577-2501T=
c.*3622-2501T= (n.*3622-2501T=)
c.4109A= (p.His1370=)
c.3233A= (p.His1078=)
c.2582A= (p.His861=)
c.2186A= (p.His729=)
c.1928A= (p.His643=)
c.3206A= (p.His1069=)
10g.75029095A>CCA377296587DUSP29,KAT6Bc.4271A>C (p.His1424Pro)
c.3722A>C (p.His1241Pro)
c.3395A>C (p.His1132Pro)
n.577-2501T>G
c.*3622-2501T>G (n.*3622-2501T>G)
c.4109A>C (p.His1370Pro)
c.3233A>C (p.His1078Pro)
c.2582A>C (p.His861Pro)
c.2186A>C (p.His729Pro)
c.1928A>C (p.His643Pro)
c.3206A>C (p.His1069Pro)
10g.75029095A>GCA5565008DUSP29,KAT6Bc.4271A>G (p.His1424Arg)
c.3722A>G (p.His1241Arg)
c.3395A>G (p.His1132Arg)
n.577-2501T>C
c.*3622-2501T>C (n.*3622-2501T>C)
c.4109A>G (p.His1370Arg)
c.3233A>G (p.His1078Arg)
c.2582A>G (p.His861Arg)
c.2186A>G (p.His729Arg)
c.1928A>G (p.His643Arg)
c.3206A>G (p.His1069Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.75029095A>TCA377296588DUSP29,KAT6Bc.4271A>T (p.His1424Leu)
c.3722A>T (p.His1241Leu)
c.3395A>T (p.His1132Leu)
n.577-2501T>A
c.*3622-2501T>A (n.*3622-2501T>A)
c.4109A>T (p.His1370Leu)
c.3233A>T (p.His1078Leu)
c.2582A>T (p.His861Leu)
c.2186A>T (p.His729Leu)
c.1928A>T (p.His643Leu)
c.3206A>T (p.His1069Leu)
10g.75029096T>ACA377296589DUSP29,KAT6Bc.4272T>A (p.His1424Gln)
c.3723T>A (p.His1241Gln)
c.3396T>A (p.His1132Gln)
n.577-2502A>T
c.*3622-2502A>T (n.*3622-2502A>T)
c.4110T>A (p.His1370Gln)
c.3234T>A (p.His1078Gln)
c.2583T>A (p.His861Gln)
c.2187T>A (p.His729Gln)
c.1929T>A (p.His643Gln)
c.3207T>A (p.His1069Gln)
10g.75029096T>CCA5565009DUSP29,KAT6Bc.4272T>C (p.His1424=)
c.3723T>C (p.His1241=)
c.3396T>C (p.His1132=)
n.577-2502A>G
c.*3622-2502A>G (n.*3622-2502A>G)
c.4110T>C (p.His1370=)
c.3234T>C (p.His1078=)
c.2583T>C (p.His861=)
c.2187T>C (p.His729=)
c.1929T>C (p.His643=)
c.3207T>C (p.His1069=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.75029096T>GCA377296590DUSP29,KAT6Bc.4272T>G (p.His1424Gln)
c.3723T>G (p.His1241Gln)
c.3396T>G (p.His1132Gln)
n.577-2502A>C
c.*3622-2502A>C (n.*3622-2502A>C)
c.4110T>G (p.His1370Gln)
c.3234T>G (p.His1078Gln)
c.2583T>G (p.His861Gln)
c.2187T>G (p.His729Gln)
c.1929T>G (p.His643Gln)
c.3207T>G (p.His1069Gln)
10g.75029096T=CA1920306607DUSP29,KAT6Bc.4272T= (p.His1424=)
c.3723T= (p.His1241=)
c.3396T= (p.His1132=)
n.577-2502A=
c.*3622-2502A= (n.*3622-2502A=)
c.4110T= (p.His1370=)
c.3234T= (p.His1078=)
c.2583T= (p.His861=)
c.2187T= (p.His729=)
c.1929T= (p.His643=)
c.3207T= (p.His1069=)

Number of alleles fetched