Chr Mutation (hg38) CAid Gene Transcript Linkouts
10g.75030223A=CA1920306998DUSP29,KAT6Bc.5399A= (p.Gln1800=)
c.4850A= (p.Gln1617=)
c.4523A= (p.Gln1508=)
n.577-3629T=
c.*3622-3629T= (n.*3622-3629T=)
c.5237A= (p.Gln1746=)
c.4361A= (p.Gln1454=)
c.3710A= (p.Gln1237=)
c.3314A= (p.Gln1105=)
c.3056A= (p.Gln1019=)
c.4334A= (p.Gln1445=)
10g.75030223A>CCA5565195DUSP29,KAT6Bc.5399A>C (p.Gln1800Pro)
c.4850A>C (p.Gln1617Pro)
c.4523A>C (p.Gln1508Pro)
n.577-3629T>G
c.*3622-3629T>G (n.*3622-3629T>G)
c.5237A>C (p.Gln1746Pro)
c.4361A>C (p.Gln1454Pro)
c.3710A>C (p.Gln1237Pro)
c.3314A>C (p.Gln1105Pro)
c.3056A>C (p.Gln1019Pro)
c.4334A>C (p.Gln1445Pro)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.75030223A>GCA377301072DUSP29,KAT6Bc.5399A>G (p.Gln1800Arg)
c.4850A>G (p.Gln1617Arg)
c.4523A>G (p.Gln1508Arg)
n.577-3629T>C
c.*3622-3629T>C (n.*3622-3629T>C)
c.5237A>G (p.Gln1746Arg)
c.4361A>G (p.Gln1454Arg)
c.3710A>G (p.Gln1237Arg)
c.3314A>G (p.Gln1105Arg)
c.3056A>G (p.Gln1019Arg)
c.4334A>G (p.Gln1445Arg)
10g.75030223A>TCA377301073DUSP29,KAT6Bc.5399A>T (p.Gln1800Leu)
c.4850A>T (p.Gln1617Leu)
c.4523A>T (p.Gln1508Leu)
n.577-3629T>A
c.*3622-3629T>A (n.*3622-3629T>A)
c.5237A>T (p.Gln1746Leu)
c.4361A>T (p.Gln1454Leu)
c.3710A>T (p.Gln1237Leu)
c.3314A>T (p.Gln1105Leu)
c.3056A>T (p.Gln1019Leu)
c.4334A>T (p.Gln1445Leu)
10g.75030224G>ACA470300859DUSP29,KAT6Bc.5400G>A (p.Gln1800=)
c.4851G>A (p.Gln1617=)
c.4524G>A (p.Gln1508=)
n.577-3630C>T
c.*3622-3630C>T (n.*3622-3630C>T)
c.5238G>A (p.Gln1746=)
c.4362G>A (p.Gln1454=)
c.3711G>A (p.Gln1237=)
c.3315G>A (p.Gln1105=)
c.3057G>A (p.Gln1019=)
c.4335G>A (p.Gln1445=)
10g.75030224G>CCA377301074DUSP29,KAT6Bc.5400G>C (p.Gln1800His)
c.4851G>C (p.Gln1617His)
c.4524G>C (p.Gln1508His)
n.577-3630C>G
c.*3622-3630C>G (n.*3622-3630C>G)
c.5238G>C (p.Gln1746His)
c.4362G>C (p.Gln1454His)
c.3711G>C (p.Gln1237His)
c.3315G>C (p.Gln1105His)
c.3057G>C (p.Gln1019His)
c.4335G>C (p.Gln1445His)
10g.75030224G=CA1920306999DUSP29,KAT6Bc.5400G= (p.Gln1800=)
c.4851G= (p.Gln1617=)
c.4524G= (p.Gln1508=)
n.577-3630C=
c.*3622-3630C= (n.*3622-3630C=)
c.5238G= (p.Gln1746=)
c.4362G= (p.Gln1454=)
c.3711G= (p.Gln1237=)
c.3315G= (p.Gln1105=)
c.3057G= (p.Gln1019=)
c.4335G= (p.Gln1445=)
10g.75030224G>TCA377301075DUSP29,KAT6Bc.5400G>T (p.Gln1800His)
c.4851G>T (p.Gln1617His)
c.4524G>T (p.Gln1508His)
n.577-3630C>A
c.*3622-3630C>A (n.*3622-3630C>A)
c.5238G>T (p.Gln1746His)
c.4362G>T (p.Gln1454His)
c.3711G>T (p.Gln1237His)
c.3315G>T (p.Gln1105His)
c.3057G>T (p.Gln1019His)
c.4335G>T (p.Gln1445His)
 dbSNP gnomAD v2 gnomAD v4
10g.75030225A>CCA377301076DUSP29,KAT6Bc.5401A>C (p.Ser1801Arg)
c.4852A>C (p.Ser1618Arg)
c.4525A>C (p.Ser1509Arg)
n.577-3631T>G
c.*3622-3631T>G (n.*3622-3631T>G)
c.5239A>C (p.Ser1747Arg)
c.4363A>C (p.Ser1455Arg)
c.3712A>C (p.Ser1238Arg)
c.3316A>C (p.Ser1106Arg)
c.3058A>C (p.Ser1020Arg)
c.4336A>C (p.Ser1446Arg)
 dbSNP
10g.75030225A>GCA377301078DUSP29,KAT6Bc.5401A>G (p.Ser1801Gly)
c.4852A>G (p.Ser1618Gly)
c.4525A>G (p.Ser1509Gly)
n.577-3631T>C
c.*3622-3631T>C (n.*3622-3631T>C)
c.5239A>G (p.Ser1747Gly)
c.4363A>G (p.Ser1455Gly)
c.3712A>G (p.Ser1238Gly)
c.3316A>G (p.Ser1106Gly)
c.3058A>G (p.Ser1020Gly)
c.4336A>G (p.Ser1446Gly)
 gnomAD v4
10g.75030225A>TCA377301077DUSP29,KAT6Bc.5401A>T (p.Ser1801Cys)
c.4852A>T (p.Ser1618Cys)
c.4525A>T (p.Ser1509Cys)
n.577-3631T>A
c.*3622-3631T>A (n.*3622-3631T>A)
c.5239A>T (p.Ser1747Cys)
c.4363A>T (p.Ser1455Cys)
c.3712A>T (p.Ser1238Cys)
c.3316A>T (p.Ser1106Cys)
c.3058A>T (p.Ser1020Cys)
c.4336A>T (p.Ser1446Cys)
10g.75030226G>ACA377301079DUSP29,KAT6Bc.5402G>A (p.Ser1801Asn)
c.4853G>A (p.Ser1618Asn)
c.4526G>A (p.Ser1509Asn)
n.577-3632C>T
c.*3622-3632C>T (n.*3622-3632C>T)
c.5240G>A (p.Ser1747Asn)
c.4364G>A (p.Ser1455Asn)
c.3713G>A (p.Ser1238Asn)
c.3317G>A (p.Ser1106Asn)
c.3059G>A (p.Ser1020Asn)
c.4337G>A (p.Ser1446Asn)
10g.75030226G>CCA377301080DUSP29,KAT6Bc.5402G>C (p.Ser1801Thr)
c.4853G>C (p.Ser1618Thr)
c.4526G>C (p.Ser1509Thr)
n.577-3632C>G
c.*3622-3632C>G (n.*3622-3632C>G)
c.5240G>C (p.Ser1747Thr)
c.4364G>C (p.Ser1455Thr)
c.3713G>C (p.Ser1238Thr)
c.3317G>C (p.Ser1106Thr)
c.3059G>C (p.Ser1020Thr)
c.4337G>C (p.Ser1446Thr)
10g.75030226G>TCA377301081DUSP29,KAT6Bc.5402G>T (p.Ser1801Ile)
c.4853G>T (p.Ser1618Ile)
c.4526G>T (p.Ser1509Ile)
n.577-3632C>A
c.*3622-3632C>A (n.*3622-3632C>A)
c.5240G>T (p.Ser1747Ile)
c.4364G>T (p.Ser1455Ile)
c.3713G>T (p.Ser1238Ile)
c.3317G>T (p.Ser1106Ile)
c.3059G>T (p.Ser1020Ile)
c.4337G>T (p.Ser1446Ile)
10g.75030227T>ACA377301082DUSP29,KAT6Bc.5403T>A (p.Ser1801Arg)
c.4854T>A (p.Ser1618Arg)
c.4527T>A (p.Ser1509Arg)
n.577-3633A>T
c.*3622-3633A>T (n.*3622-3633A>T)
c.5241T>A (p.Ser1747Arg)
c.4365T>A (p.Ser1455Arg)
c.3714T>A (p.Ser1238Arg)
c.3318T>A (p.Ser1106Arg)
c.3060T>A (p.Ser1020Arg)
c.4338T>A (p.Ser1446Arg)
10g.75030227T>CCA470300860DUSP29,KAT6Bc.5403T>C (p.Ser1801=)
c.4854T>C (p.Ser1618=)
c.4527T>C (p.Ser1509=)
n.577-3633A>G
c.*3622-3633A>G (n.*3622-3633A>G)
c.5241T>C (p.Ser1747=)
c.4365T>C (p.Ser1455=)
c.3714T>C (p.Ser1238=)
c.3318T>C (p.Ser1106=)
c.3060T>C (p.Ser1020=)
c.4338T>C (p.Ser1446=)
10g.75030227T>GCA377301083DUSP29,KAT6Bc.5403T>G (p.Ser1801Arg)
c.4854T>G (p.Ser1618Arg)
c.4527T>G (p.Ser1509Arg)
n.577-3633A>C
c.*3622-3633A>C (n.*3622-3633A>C)
c.5241T>G (p.Ser1747Arg)
c.4365T>G (p.Ser1455Arg)
c.3714T>G (p.Ser1238Arg)
c.3318T>G (p.Ser1106Arg)
c.3060T>G (p.Ser1020Arg)
c.4338T>G (p.Ser1446Arg)
 dbSNP gnomAD v3 gnomAD v4
10g.75030227T=CA1920307000DUSP29,KAT6Bc.5403T= (p.Ser1801=)
c.4854T= (p.Ser1618=)
c.4527T= (p.Ser1509=)
n.577-3633A=
c.*3622-3633A= (n.*3622-3633A=)
c.5241T= (p.Ser1747=)
c.4365T= (p.Ser1455=)
c.3714T= (p.Ser1238=)
c.3318T= (p.Ser1106=)
c.3060T= (p.Ser1020=)
c.4338T= (p.Ser1446=)
10g.75030228G>ACA377301084DUSP29,KAT6Bc.5404G>A (p.Asp1802Asn)
c.4855G>A (p.Asp1619Asn)
c.4528G>A (p.Asp1510Asn)
n.577-3634C>T
c.*3622-3634C>T (n.*3622-3634C>T)
c.5242G>A (p.Asp1748Asn)
c.4366G>A (p.Asp1456Asn)
c.3715G>A (p.Asp1239Asn)
c.3319G>A (p.Asp1107Asn)
c.3061G>A (p.Asp1021Asn)
c.4339G>A (p.Asp1447Asn)
10g.75030228G>CCA377301085DUSP29,KAT6Bc.5404G>C (p.Asp1802His)
c.4855G>C (p.Asp1619His)
c.4528G>C (p.Asp1510His)
n.577-3634C>G
c.*3622-3634C>G (n.*3622-3634C>G)
c.5242G>C (p.Asp1748His)
c.4366G>C (p.Asp1456His)
c.3715G>C (p.Asp1239His)
c.3319G>C (p.Asp1107His)
c.3061G>C (p.Asp1021His)
c.4339G>C (p.Asp1447His)
 gnomAD v4
10g.75030228G>TCA377301086DUSP29,KAT6Bc.5404G>T (p.Asp1802Tyr)
c.4855G>T (p.Asp1619Tyr)
c.4528G>T (p.Asp1510Tyr)
n.577-3634C>A
c.*3622-3634C>A (n.*3622-3634C>A)
c.5242G>T (p.Asp1748Tyr)
c.4366G>T (p.Asp1456Tyr)
c.3715G>T (p.Asp1239Tyr)
c.3319G>T (p.Asp1107Tyr)
c.3061G>T (p.Asp1021Tyr)
c.4339G>T (p.Asp1447Tyr)
10g.75030229A>CCA377301087DUSP29,KAT6Bc.5405A>C (p.Asp1802Ala)
c.4856A>C (p.Asp1619Ala)
c.4529A>C (p.Asp1510Ala)
n.577-3635T>G
c.*3622-3635T>G (n.*3622-3635T>G)
c.5243A>C (p.Asp1748Ala)
c.4367A>C (p.Asp1456Ala)
c.3716A>C (p.Asp1239Ala)
c.3320A>C (p.Asp1107Ala)
c.3062A>C (p.Asp1021Ala)
c.4340A>C (p.Asp1447Ala)
10g.75030229A>GCA377301088DUSP29,KAT6Bc.5405A>G (p.Asp1802Gly)
c.4856A>G (p.Asp1619Gly)
c.4529A>G (p.Asp1510Gly)
n.577-3635T>C
c.*3622-3635T>C (n.*3622-3635T>C)
c.5243A>G (p.Asp1748Gly)
c.4367A>G (p.Asp1456Gly)
c.3716A>G (p.Asp1239Gly)
c.3320A>G (p.Asp1107Gly)
c.3062A>G (p.Asp1021Gly)
c.4340A>G (p.Asp1447Gly)
10g.75030229A>TCA377301089DUSP29,KAT6Bc.5405A>T (p.Asp1802Val)
c.4856A>T (p.Asp1619Val)
c.4529A>T (p.Asp1510Val)
n.577-3635T>A
c.*3622-3635T>A (n.*3622-3635T>A)
c.5243A>T (p.Asp1748Val)
c.4367A>T (p.Asp1456Val)
c.3716A>T (p.Asp1239Val)
c.3320A>T (p.Asp1107Val)
c.3062A>T (p.Asp1021Val)
c.4340A>T (p.Asp1447Val)
10g.75030230T>ACA377301090DUSP29,KAT6Bc.5406T>A (p.Asp1802Glu)
c.4857T>A (p.Asp1619Glu)
c.4530T>A (p.Asp1510Glu)
n.577-3636A>T
c.*3622-3636A>T (n.*3622-3636A>T)
c.5244T>A (p.Asp1748Glu)
c.4368T>A (p.Asp1456Glu)
c.3717T>A (p.Asp1239Glu)
c.3321T>A (p.Asp1107Glu)
c.3063T>A (p.Asp1021Glu)
c.4341T>A (p.Asp1447Glu)
10g.75030230T>CCA470300861DUSP29,KAT6Bc.5406T>C (p.Asp1802=)
c.4857T>C (p.Asp1619=)
c.4530T>C (p.Asp1510=)
n.577-3636A>G
c.*3622-3636A>G (n.*3622-3636A>G)
c.5244T>C (p.Asp1748=)
c.4368T>C (p.Asp1456=)
c.3717T>C (p.Asp1239=)
c.3321T>C (p.Asp1107=)
c.3063T>C (p.Asp1021=)
c.4341T>C (p.Asp1447=)
 dbSNP
10g.75030230T>GCA377301091DUSP29,KAT6Bc.5406T>G (p.Asp1802Glu)
c.4857T>G (p.Asp1619Glu)
c.4530T>G (p.Asp1510Glu)
n.577-3636A>C
c.*3622-3636A>C (n.*3622-3636A>C)
c.5244T>G (p.Asp1748Glu)
c.4368T>G (p.Asp1456Glu)
c.3717T>G (p.Asp1239Glu)
c.3321T>G (p.Asp1107Glu)
c.3063T>G (p.Asp1021Glu)
c.4341T>G (p.Asp1447Glu)
10g.75030230T=CA1920307001DUSP29,KAT6Bc.5406T= (p.Asp1802=)
c.4857T= (p.Asp1619=)
c.4530T= (p.Asp1510=)
n.577-3636A=
c.*3622-3636A= (n.*3622-3636A=)
c.5244T= (p.Asp1748=)
c.4368T= (p.Asp1456=)
c.3717T= (p.Asp1239=)
c.3321T= (p.Asp1107=)
c.3063T= (p.Asp1021=)
c.4341T= (p.Asp1447=)
10g.75030233delCA2499220387DUSP29,KAT6Bc.5409del (p.Phe1803LeufsTer21)
c.4860del (p.Phe1620LeufsTer21)
c.4533del (p.Phe1511LeufsTer21)
n.577-3636del
c.*3622-3636del (n.*3622-3636del)
c.5247del (p.Phe1749LeufsTer21)
c.4371del (p.Phe1457LeufsTer21)
c.3720del (p.Phe1240LeufsTer21)
c.3324del (p.Phe1108LeufsTer21)
c.3066del (p.Phe1022LeufsTer21)
c.4344del (p.Phe1448LeufsTer21)
 ClinVar dbSNP
10g.75030231T>ACA377301092DUSP29,KAT6Bc.5407T>A (p.Phe1803Ile)
c.4858T>A (p.Phe1620Ile)
c.4531T>A (p.Phe1511Ile)
n.577-3637A>T
c.*3622-3637A>T (n.*3622-3637A>T)
c.5245T>A (p.Phe1749Ile)
c.4369T>A (p.Phe1457Ile)
c.3718T>A (p.Phe1240Ile)
c.3322T>A (p.Phe1108Ile)
c.3064T>A (p.Phe1022Ile)
c.4342T>A (p.Phe1448Ile)
 gnomAD v4
10g.75030231T>CCA377301094DUSP29,KAT6Bc.5407T>C (p.Phe1803Leu)
c.4858T>C (p.Phe1620Leu)
c.4531T>C (p.Phe1511Leu)
n.577-3637A>G
c.*3622-3637A>G (n.*3622-3637A>G)
c.5245T>C (p.Phe1749Leu)
c.4369T>C (p.Phe1457Leu)
c.3718T>C (p.Phe1240Leu)
c.3322T>C (p.Phe1108Leu)
c.3064T>C (p.Phe1022Leu)
c.4342T>C (p.Phe1448Leu)
10g.75030231T>GCA377301093DUSP29,KAT6Bc.5407T>G (p.Phe1803Val)
c.4858T>G (p.Phe1620Val)
c.4531T>G (p.Phe1511Val)
n.577-3637A>C
c.*3622-3637A>C (n.*3622-3637A>C)
c.5245T>G (p.Phe1749Val)
c.4369T>G (p.Phe1457Val)
c.3718T>G (p.Phe1240Val)
c.3322T>G (p.Phe1108Val)
c.3064T>G (p.Phe1022Val)
c.4342T>G (p.Phe1448Val)
10g.75030232T>ACA377301095DUSP29,KAT6Bc.5408T>A (p.Phe1803Tyr)
c.4859T>A (p.Phe1620Tyr)
c.4532T>A (p.Phe1511Tyr)
n.577-3638A>T
c.*3622-3638A>T (n.*3622-3638A>T)
c.5246T>A (p.Phe1749Tyr)
c.4370T>A (p.Phe1457Tyr)
c.3719T>A (p.Phe1240Tyr)
c.3323T>A (p.Phe1108Tyr)
c.3065T>A (p.Phe1022Tyr)
c.4343T>A (p.Phe1448Tyr)
10g.75030232T>CCA377301097DUSP29,KAT6Bc.5408T>C (p.Phe1803Ser)
c.4859T>C (p.Phe1620Ser)
c.4532T>C (p.Phe1511Ser)
n.577-3638A>G
c.*3622-3638A>G (n.*3622-3638A>G)
c.5246T>C (p.Phe1749Ser)
c.4370T>C (p.Phe1457Ser)
c.3719T>C (p.Phe1240Ser)
c.3323T>C (p.Phe1108Ser)
c.3065T>C (p.Phe1022Ser)
c.4343T>C (p.Phe1448Ser)
 dbSNP
10g.75030232T>GCA377301096DUSP29,KAT6Bc.5408T>G (p.Phe1803Cys)
c.4859T>G (p.Phe1620Cys)
c.4532T>G (p.Phe1511Cys)
n.577-3638A>C
c.*3622-3638A>C (n.*3622-3638A>C)
c.5246T>G (p.Phe1749Cys)
c.4370T>G (p.Phe1457Cys)
c.3719T>G (p.Phe1240Cys)
c.3323T>G (p.Phe1108Cys)
c.3065T>G (p.Phe1022Cys)
c.4343T>G (p.Phe1448Cys)
10g.75030232T=CA1920307002DUSP29,KAT6Bc.5408T= (p.Phe1803=)
c.4859T= (p.Phe1620=)
c.4532T= (p.Phe1511=)
n.577-3638A=
c.*3622-3638A= (n.*3622-3638A=)
c.5246T= (p.Phe1749=)
c.4370T= (p.Phe1457=)
c.3719T= (p.Phe1240=)
c.3323T= (p.Phe1108=)
c.3065T= (p.Phe1022=)
c.4343T= (p.Phe1448=)
10g.75030233T>ACA377301098DUSP29,KAT6Bc.5409T>A (p.Phe1803Leu)
c.4860T>A (p.Phe1620Leu)
c.4533T>A (p.Phe1511Leu)
n.577-3639A>T
c.*3622-3639A>T (n.*3622-3639A>T)
c.5247T>A (p.Phe1749Leu)
c.4371T>A (p.Phe1457Leu)
c.3720T>A (p.Phe1240Leu)
c.3324T>A (p.Phe1108Leu)
c.3066T>A (p.Phe1022Leu)
c.4344T>A (p.Phe1448Leu)
10g.75030233T>CCA470300862DUSP29,KAT6Bc.5409T>C (p.Phe1803=)
c.4860T>C (p.Phe1620=)
c.4533T>C (p.Phe1511=)
n.577-3639A>G
c.*3622-3639A>G (n.*3622-3639A>G)
c.5247T>C (p.Phe1749=)
c.4371T>C (p.Phe1457=)
c.3720T>C (p.Phe1240=)
c.3324T>C (p.Phe1108=)
c.3066T>C (p.Phe1022=)
c.4344T>C (p.Phe1448=)
 gnomAD v4
10g.75030233T>GCA377301099DUSP29,KAT6Bc.5409T>G (p.Phe1803Leu)
c.4860T>G (p.Phe1620Leu)
c.4533T>G (p.Phe1511Leu)
n.577-3639A>C
c.*3622-3639A>C (n.*3622-3639A>C)
c.5247T>G (p.Phe1749Leu)
c.4371T>G (p.Phe1457Leu)
c.3720T>G (p.Phe1240Leu)
c.3324T>G (p.Phe1108Leu)
c.3066T>G (p.Phe1022Leu)
c.4344T>G (p.Phe1448Leu)
10g.75030234G>ACA377301100DUSP29,KAT6Bc.5410G>A (p.Gly1804Arg)
c.4861G>A (p.Gly1621Arg)
c.4534G>A (p.Gly1512Arg)
n.577-3640C>T
c.*3622-3640C>T (n.*3622-3640C>T)
c.5248G>A (p.Gly1750Arg)
c.4372G>A (p.Gly1458Arg)
c.3721G>A (p.Gly1241Arg)
c.3325G>A (p.Gly1109Arg)
c.3067G>A (p.Gly1023Arg)
c.4345G>A (p.Gly1449Arg)
10g.75030234G>CCA377301101DUSP29,KAT6Bc.5410G>C (p.Gly1804Arg)
c.4861G>C (p.Gly1621Arg)
c.4534G>C (p.Gly1512Arg)
n.577-3640C>G
c.*3622-3640C>G (n.*3622-3640C>G)
c.5248G>C (p.Gly1750Arg)
c.4372G>C (p.Gly1458Arg)
c.3721G>C (p.Gly1241Arg)
c.3325G>C (p.Gly1109Arg)
c.3067G>C (p.Gly1023Arg)
c.4345G>C (p.Gly1449Arg)
10g.75030234G>TCA377301102DUSP29,KAT6Bc.5410G>T (p.Gly1804Trp)
c.4861G>T (p.Gly1621Trp)
c.4534G>T (p.Gly1512Trp)
n.577-3640C>A
c.*3622-3640C>A (n.*3622-3640C>A)
c.5248G>T (p.Gly1750Trp)
c.4372G>T (p.Gly1458Trp)
c.3721G>T (p.Gly1241Trp)
c.3325G>T (p.Gly1109Trp)
c.3067G>T (p.Gly1023Trp)
c.4345G>T (p.Gly1449Trp)
10g.75030235G>ACA377301103DUSP29,KAT6Bc.5411G>A (p.Gly1804Glu)
c.4862G>A (p.Gly1621Glu)
c.4535G>A (p.Gly1512Glu)
n.577-3641C>T
c.*3622-3641C>T (n.*3622-3641C>T)
c.5249G>A (p.Gly1750Glu)
c.4373G>A (p.Gly1458Glu)
c.3722G>A (p.Gly1241Glu)
c.3326G>A (p.Gly1109Glu)
c.3068G>A (p.Gly1023Glu)
c.4346G>A (p.Gly1449Glu)
10g.75030235G>CCA377301104DUSP29,KAT6Bc.5411G>C (p.Gly1804Ala)
c.4862G>C (p.Gly1621Ala)
c.4535G>C (p.Gly1512Ala)
n.577-3641C>G
c.*3622-3641C>G (n.*3622-3641C>G)
c.5249G>C (p.Gly1750Ala)
c.4373G>C (p.Gly1458Ala)
c.3722G>C (p.Gly1241Ala)
c.3326G>C (p.Gly1109Ala)
c.3068G>C (p.Gly1023Ala)
c.4346G>C (p.Gly1449Ala)
10g.75030235G>TCA377301105DUSP29,KAT6Bc.5411G>T (p.Gly1804Val)
c.4862G>T (p.Gly1621Val)
c.4535G>T (p.Gly1512Val)
n.577-3641C>A
c.*3622-3641C>A (n.*3622-3641C>A)
c.5249G>T (p.Gly1750Val)
c.4373G>T (p.Gly1458Val)
c.3722G>T (p.Gly1241Val)
c.3326G>T (p.Gly1109Val)
c.3068G>T (p.Gly1023Val)
c.4346G>T (p.Gly1449Val)
 COSMIC
10g.75030236G>ACA470300863DUSP29,KAT6Bc.5412G>A (p.Gly1804=)
c.4863G>A (p.Gly1621=)
c.4536G>A (p.Gly1512=)
n.577-3642C>T
c.*3622-3642C>T (n.*3622-3642C>T)
c.5250G>A (p.Gly1750=)
c.4374G>A (p.Gly1458=)
c.3723G>A (p.Gly1241=)
c.3327G>A (p.Gly1109=)
c.3069G>A (p.Gly1023=)
c.4347G>A (p.Gly1449=)
10g.75030236G>CCA470300865DUSP29,KAT6Bc.5412G>C (p.Gly1804=)
c.4863G>C (p.Gly1621=)
c.4536G>C (p.Gly1512=)
n.577-3642C>G
c.*3622-3642C>G (n.*3622-3642C>G)
c.5250G>C (p.Gly1750=)
c.4374G>C (p.Gly1458=)
c.3723G>C (p.Gly1241=)
c.3327G>C (p.Gly1109=)
c.3069G>C (p.Gly1023=)
c.4347G>C (p.Gly1449=)
10g.75030236G=CA1920307003DUSP29,KAT6Bc.5412G= (p.Gly1804=)
c.4863G= (p.Gly1621=)
c.4536G= (p.Gly1512=)
n.577-3642C=
c.*3622-3642C= (n.*3622-3642C=)
c.5250G= (p.Gly1750=)
c.4374G= (p.Gly1458=)
c.3723G= (p.Gly1241=)
c.3327G= (p.Gly1109=)
c.3069G= (p.Gly1023=)
c.4347G= (p.Gly1449=)
10g.75030236G>TCA470300864DUSP29,KAT6Bc.5412G>T (p.Gly1804=)
c.4863G>T (p.Gly1621=)
c.4536G>T (p.Gly1512=)
n.577-3642C>A
c.*3622-3642C>A (n.*3622-3642C>A)
c.5250G>T (p.Gly1750=)
c.4374G>T (p.Gly1458=)
c.3723G>T (p.Gly1241=)
c.3327G>T (p.Gly1109=)
c.3069G>T (p.Gly1023=)
c.4347G>T (p.Gly1449=)
 dbSNP
10g.75030237G>ACA377301106DUSP29,KAT6Bc.5413G>A (p.Ala1805Thr)
c.4864G>A (p.Ala1622Thr)
c.4537G>A (p.Ala1513Thr)
n.577-3643C>T
c.*3622-3643C>T (n.*3622-3643C>T)
c.5251G>A (p.Ala1751Thr)
c.4375G>A (p.Ala1459Thr)
c.3724G>A (p.Ala1242Thr)
c.3328G>A (p.Ala1110Thr)
c.3070G>A (p.Ala1024Thr)
c.4348G>A (p.Ala1450Thr)
10g.75030237G>CCA377301107DUSP29,KAT6Bc.5413G>C (p.Ala1805Pro)
c.4864G>C (p.Ala1622Pro)
c.4537G>C (p.Ala1513Pro)
n.577-3643C>G
c.*3622-3643C>G (n.*3622-3643C>G)
c.5251G>C (p.Ala1751Pro)
c.4375G>C (p.Ala1459Pro)
c.3724G>C (p.Ala1242Pro)
c.3328G>C (p.Ala1110Pro)
c.3070G>C (p.Ala1024Pro)
c.4348G>C (p.Ala1450Pro)
10g.75030237G>TCA377301108DUSP29,KAT6Bc.5413G>T (p.Ala1805Ser)
c.4864G>T (p.Ala1622Ser)
c.4537G>T (p.Ala1513Ser)
n.577-3643C>A
c.*3622-3643C>A (n.*3622-3643C>A)
c.5251G>T (p.Ala1751Ser)
c.4375G>T (p.Ala1459Ser)
c.3724G>T (p.Ala1242Ser)
c.3328G>T (p.Ala1110Ser)
c.3070G>T (p.Ala1024Ser)
c.4348G>T (p.Ala1450Ser)
10g.75030238C>ACA377301111DUSP29,KAT6Bc.5414C>A (p.Ala1805Asp)
c.4865C>A (p.Ala1622Asp)
c.4538C>A (p.Ala1513Asp)
n.577-3644G>T
c.*3622-3644G>T (n.*3622-3644G>T)
c.5252C>A (p.Ala1751Asp)
c.4376C>A (p.Ala1459Asp)
c.3725C>A (p.Ala1242Asp)
c.3329C>A (p.Ala1110Asp)
c.3071C>A (p.Ala1024Asp)
c.4349C>A (p.Ala1450Asp)
10g.75030238C>GCA377301110DUSP29,KAT6Bc.5414C>G (p.Ala1805Gly)
c.4865C>G (p.Ala1622Gly)
c.4538C>G (p.Ala1513Gly)
n.577-3644G>C
c.*3622-3644G>C (n.*3622-3644G>C)
c.5252C>G (p.Ala1751Gly)
c.4376C>G (p.Ala1459Gly)
c.3725C>G (p.Ala1242Gly)
c.3329C>G (p.Ala1110Gly)
c.3071C>G (p.Ala1024Gly)
c.4349C>G (p.Ala1450Gly)
10g.75030238C>TCA377301109DUSP29,KAT6Bc.5414C>T (p.Ala1805Val)
c.4865C>T (p.Ala1622Val)
c.4538C>T (p.Ala1513Val)
n.577-3644G>A
c.*3622-3644G>A (n.*3622-3644G>A)
c.5252C>T (p.Ala1751Val)
c.4376C>T (p.Ala1459Val)
c.3725C>T (p.Ala1242Val)
c.3329C>T (p.Ala1110Val)
c.3071C>T (p.Ala1024Val)
c.4349C>T (p.Ala1450Val)
10g.75030239T>ACA470300866DUSP29,KAT6Bc.5415T>A (p.Ala1805=)
c.4866T>A (p.Ala1622=)
c.4539T>A (p.Ala1513=)
n.577-3645A>T
c.*3622-3645A>T (n.*3622-3645A>T)
c.5253T>A (p.Ala1751=)
c.4377T>A (p.Ala1459=)
c.3726T>A (p.Ala1242=)
c.3330T>A (p.Ala1110=)
c.3072T>A (p.Ala1024=)
c.4350T>A (p.Ala1450=)
10g.75030239T>CCA470300867DUSP29,KAT6Bc.5415T>C (p.Ala1805=)
c.4866T>C (p.Ala1622=)
c.4539T>C (p.Ala1513=)
n.577-3645A>G
c.*3622-3645A>G (n.*3622-3645A>G)
c.5253T>C (p.Ala1751=)
c.4377T>C (p.Ala1459=)
c.3726T>C (p.Ala1242=)
c.3330T>C (p.Ala1110=)
c.3072T>C (p.Ala1024=)
c.4350T>C (p.Ala1450=)
10g.75030239T>GCA470300868DUSP29,KAT6Bc.5415T>G (p.Ala1805=)
c.4866T>G (p.Ala1622=)
c.4539T>G (p.Ala1513=)
n.577-3645A>C
c.*3622-3645A>C (n.*3622-3645A>C)
c.5253T>G (p.Ala1751=)
c.4377T>G (p.Ala1459=)
c.3726T>G (p.Ala1242=)
c.3330T>G (p.Ala1110=)
c.3072T>G (p.Ala1024=)
c.4350T>G (p.Ala1450=)
10g.75030240G>ACA377301112DUSP29,KAT6Bc.5416G>A (p.Gly1806Arg)
c.4867G>A (p.Gly1623Arg)
c.4540G>A (p.Gly1514Arg)
n.577-3646C>T
c.*3622-3646C>T (n.*3622-3646C>T)
c.5254G>A (p.Gly1752Arg)
c.4378G>A (p.Gly1460Arg)
c.3727G>A (p.Gly1243Arg)
c.3331G>A (p.Gly1111Arg)
c.3073G>A (p.Gly1025Arg)
c.4351G>A (p.Gly1451Arg)
10g.75030240G>CCA377301114DUSP29,KAT6Bc.5416G>C (p.Gly1806Arg)
c.4867G>C (p.Gly1623Arg)
c.4540G>C (p.Gly1514Arg)
n.577-3646C>G
c.*3622-3646C>G (n.*3622-3646C>G)
c.5254G>C (p.Gly1752Arg)
c.4378G>C (p.Gly1460Arg)
c.3727G>C (p.Gly1243Arg)
c.3331G>C (p.Gly1111Arg)
c.3073G>C (p.Gly1025Arg)
c.4351G>C (p.Gly1451Arg)
10g.75030240G>TCA377301115DUSP29,KAT6Bc.5416G>T (p.Gly1806Trp)
c.4867G>T (p.Gly1623Trp)
c.4540G>T (p.Gly1514Trp)
n.577-3646C>A
c.*3622-3646C>A (n.*3622-3646C>A)
c.5254G>T (p.Gly1752Trp)
c.4378G>T (p.Gly1460Trp)
c.3727G>T (p.Gly1243Trp)
c.3331G>T (p.Gly1111Trp)
c.3073G>T (p.Gly1025Trp)
c.4351G>T (p.Gly1451Trp)
10g.75030241G>ACA377301118DUSP29,KAT6Bc.5417G>A (p.Gly1806Glu)
c.4868G>A (p.Gly1623Glu)
c.4541G>A (p.Gly1514Glu)
n.577-3647C>T
c.*3622-3647C>T (n.*3622-3647C>T)
c.5255G>A (p.Gly1752Glu)
c.4379G>A (p.Gly1460Glu)
c.3728G>A (p.Gly1243Glu)
c.3332G>A (p.Gly1111Glu)
c.3074G>A (p.Gly1025Glu)
c.4352G>A (p.Gly1451Glu)
10g.75030241G>CCA377301119DUSP29,KAT6Bc.5417G>C (p.Gly1806Ala)
c.4868G>C (p.Gly1623Ala)
c.4541G>C (p.Gly1514Ala)
n.577-3647C>G
c.*3622-3647C>G (n.*3622-3647C>G)
c.5255G>C (p.Gly1752Ala)
c.4379G>C (p.Gly1460Ala)
c.3728G>C (p.Gly1243Ala)
c.3332G>C (p.Gly1111Ala)
c.3074G>C (p.Gly1025Ala)
c.4352G>C (p.Gly1451Ala)
10g.75030241G>TCA377301122DUSP29,KAT6Bc.5417G>T (p.Gly1806Val)
c.4868G>T (p.Gly1623Val)
c.4541G>T (p.Gly1514Val)
n.577-3647C>A
c.*3622-3647C>A (n.*3622-3647C>A)
c.5255G>T (p.Gly1752Val)
c.4379G>T (p.Gly1460Val)
c.3728G>T (p.Gly1243Val)
c.3332G>T (p.Gly1111Val)
c.3074G>T (p.Gly1025Val)
c.4352G>T (p.Gly1451Val)
10g.75030242G>ACA470300869DUSP29,KAT6Bc.5418G>A (p.Gly1806=)
c.4869G>A (p.Gly1623=)
c.4542G>A (p.Gly1514=)
n.577-3648C>T
c.*3622-3648C>T (n.*3622-3648C>T)
c.5256G>A (p.Gly1752=)
c.4380G>A (p.Gly1460=)
c.3729G>A (p.Gly1243=)
c.3333G>A (p.Gly1111=)
c.3075G>A (p.Gly1025=)
c.4353G>A (p.Gly1451=)
10g.75030242G>CCA470300870DUSP29,KAT6Bc.5418G>C (p.Gly1806=)
c.4869G>C (p.Gly1623=)
c.4542G>C (p.Gly1514=)
n.577-3648C>G
c.*3622-3648C>G (n.*3622-3648C>G)
c.5256G>C (p.Gly1752=)
c.4380G>C (p.Gly1460=)
c.3729G>C (p.Gly1243=)
c.3333G>C (p.Gly1111=)
c.3075G>C (p.Gly1025=)
c.4353G>C (p.Gly1451=)
10g.75030242G>TCA470300871DUSP29,KAT6Bc.5418G>T (p.Gly1806=)
c.4869G>T (p.Gly1623=)
c.4542G>T (p.Gly1514=)
n.577-3648C>A
c.*3622-3648C>A (n.*3622-3648C>A)
c.5256G>T (p.Gly1752=)
c.4380G>T (p.Gly1460=)
c.3729G>T (p.Gly1243=)
c.3333G>T (p.Gly1111=)
c.3075G>T (p.Gly1025=)
c.4353G>T (p.Gly1451=)
10g.75030243C>ACA377301125DUSP29,KAT6Bc.5419C>A (p.His1807Asn)
c.4870C>A (p.His1624Asn)
c.4543C>A (p.His1515Asn)
n.577-3649G>T
c.*3622-3649G>T (n.*3622-3649G>T)
c.5257C>A (p.His1753Asn)
c.4381C>A (p.His1461Asn)
c.3730C>A (p.His1244Asn)
c.3334C>A (p.His1112Asn)
c.3076C>A (p.His1026Asn)
c.4354C>A (p.His1452Asn)
10g.75030243C=CA1920307004DUSP29,KAT6Bc.5419C= (p.His1807=)
c.4870C= (p.His1624=)
c.4543C= (p.His1515=)
n.577-3649G=
c.*3622-3649G= (n.*3622-3649G=)
c.5257C= (p.His1753=)
c.4381C= (p.His1461=)
c.3730C= (p.His1244=)
c.3334C= (p.His1112=)
c.3076C= (p.His1026=)
c.4354C= (p.His1452=)
10g.75030243C>GCA377301127DUSP29,KAT6Bc.5419C>G (p.His1807Asp)
c.4870C>G (p.His1624Asp)
c.4543C>G (p.His1515Asp)
n.577-3649G>C
c.*3622-3649G>C (n.*3622-3649G>C)
c.5257C>G (p.His1753Asp)
c.4381C>G (p.His1461Asp)
c.3730C>G (p.His1244Asp)
c.3334C>G (p.His1112Asp)
c.3076C>G (p.His1026Asp)
c.4354C>G (p.His1452Asp)
10g.75030243C>TCA5565196DUSP29,KAT6Bc.5419C>T (p.His1807Tyr)
c.4870C>T (p.His1624Tyr)
c.4543C>T (p.His1515Tyr)
n.577-3649G>A
c.*3622-3649G>A (n.*3622-3649G>A)
c.5257C>T (p.His1753Tyr)
c.4381C>T (p.His1461Tyr)
c.3730C>T (p.His1244Tyr)
c.3334C>T (p.His1112Tyr)
c.3076C>T (p.His1026Tyr)
c.4354C>T (p.His1452Tyr)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.75030244A=CA1920307005DUSP29,KAT6Bc.5420A= (p.His1807=)
c.4871A= (p.His1624=)
c.4544A= (p.His1515=)
n.577-3650T=
c.*3622-3650T= (n.*3622-3650T=)
c.5258A= (p.His1753=)
c.4382A= (p.His1461=)
c.3731A= (p.His1244=)
c.3335A= (p.His1112=)
c.3077A= (p.His1026=)
c.4355A= (p.His1452=)
10g.75030244A>CCA377301131DUSP29,KAT6Bc.5420A>C (p.His1807Pro)
c.4871A>C (p.His1624Pro)
c.4544A>C (p.His1515Pro)
n.577-3650T>G
c.*3622-3650T>G (n.*3622-3650T>G)
c.5258A>C (p.His1753Pro)
c.4382A>C (p.His1461Pro)
c.3731A>C (p.His1244Pro)
c.3335A>C (p.His1112Pro)
c.3077A>C (p.His1026Pro)
c.4355A>C (p.His1452Pro)
 dbSNP gnomAD v2 gnomAD v4
10g.75030244A>GCA377301133DUSP29,KAT6Bc.5420A>G (p.His1807Arg)
c.4871A>G (p.His1624Arg)
c.4544A>G (p.His1515Arg)
n.577-3650T>C
c.*3622-3650T>C (n.*3622-3650T>C)
c.5258A>G (p.His1753Arg)
c.4382A>G (p.His1461Arg)
c.3731A>G (p.His1244Arg)
c.3335A>G (p.His1112Arg)
c.3077A>G (p.His1026Arg)
c.4355A>G (p.His1452Arg)
10g.75030244A>TCA377301135DUSP29,KAT6Bc.5420A>T (p.His1807Leu)
c.4871A>T (p.His1624Leu)
c.4544A>T (p.His1515Leu)
n.577-3650T>A
c.*3622-3650T>A (n.*3622-3650T>A)
c.5258A>T (p.His1753Leu)
c.4382A>T (p.His1461Leu)
c.3731A>T (p.His1244Leu)
c.3335A>T (p.His1112Leu)
c.3077A>T (p.His1026Leu)
c.4355A>T (p.His1452Leu)
10g.75030245T>ACA377301138DUSP29,KAT6Bc.5421T>A (p.His1807Gln)
c.4872T>A (p.His1624Gln)
c.4545T>A (p.His1515Gln)
n.577-3651A>T
c.*3622-3651A>T (n.*3622-3651A>T)
c.5259T>A (p.His1753Gln)
c.4383T>A (p.His1461Gln)
c.3732T>A (p.His1244Gln)
c.3336T>A (p.His1112Gln)
c.3078T>A (p.His1026Gln)
c.4356T>A (p.His1452Gln)
10g.75030245T>CCA470300872DUSP29,KAT6Bc.5421T>C (p.His1807=)
c.4872T>C (p.His1624=)
c.4545T>C (p.His1515=)
n.577-3651A>G
c.*3622-3651A>G (n.*3622-3651A>G)
c.5259T>C (p.His1753=)
c.4383T>C (p.His1461=)
c.3732T>C (p.His1244=)
c.3336T>C (p.His1112=)
c.3078T>C (p.His1026=)
c.4356T>C (p.His1452=)
 gnomAD v4
10g.75030245T>GCA377301140DUSP29,KAT6Bc.5421T>G (p.His1807Gln)
c.4872T>G (p.His1624Gln)
c.4545T>G (p.His1515Gln)
n.577-3651A>C
c.*3622-3651A>C (n.*3622-3651A>C)
c.5259T>G (p.His1753Gln)
c.4383T>G (p.His1461Gln)
c.3732T>G (p.His1244Gln)
c.3336T>G (p.His1112Gln)
c.3078T>G (p.His1026Gln)
c.4356T>G (p.His1452Gln)
10g.75030246T>ACA377301142DUSP29,KAT6Bc.5422T>A (p.Tyr1808Asn)
c.4873T>A (p.Tyr1625Asn)
c.4546T>A (p.Tyr1516Asn)
n.577-3652A>T
c.*3622-3652A>T (n.*3622-3652A>T)
c.5260T>A (p.Tyr1754Asn)
c.4384T>A (p.Tyr1462Asn)
c.3733T>A (p.Tyr1245Asn)
c.3337T>A (p.Tyr1113Asn)
c.3079T>A (p.Tyr1027Asn)
c.4357T>A (p.Tyr1453Asn)
10g.75030246T>CCA377301143DUSP29,KAT6Bc.5422T>C (p.Tyr1808His)
c.4873T>C (p.Tyr1625His)
c.4546T>C (p.Tyr1516His)
n.577-3652A>G
c.*3622-3652A>G (n.*3622-3652A>G)
c.5260T>C (p.Tyr1754His)
c.4384T>C (p.Tyr1462His)
c.3733T>C (p.Tyr1245His)
c.3337T>C (p.Tyr1113His)
c.3079T>C (p.Tyr1027His)
c.4357T>C (p.Tyr1453His)
10g.75030246T>GCA377301145DUSP29,KAT6Bc.5422T>G (p.Tyr1808Asp)
c.4873T>G (p.Tyr1625Asp)
c.4546T>G (p.Tyr1516Asp)
n.577-3652A>C
c.*3622-3652A>C (n.*3622-3652A>C)
c.5260T>G (p.Tyr1754Asp)
c.4384T>G (p.Tyr1462Asp)
c.3733T>G (p.Tyr1245Asp)
c.3337T>G (p.Tyr1113Asp)
c.3079T>G (p.Tyr1027Asp)
c.4357T>G (p.Tyr1453Asp)
10g.75030247A=CA1920307006DUSP29,KAT6Bc.5423A= (p.Tyr1808=)
c.4874A= (p.Tyr1625=)
c.4547A= (p.Tyr1516=)
n.577-3653T=
c.*3622-3653T= (n.*3622-3653T=)
c.5261A= (p.Tyr1754=)
c.4385A= (p.Tyr1462=)
c.3734A= (p.Tyr1245=)
c.3338A= (p.Tyr1113=)
c.3080A= (p.Tyr1027=)
c.4358A= (p.Tyr1453=)
10g.75030247A>CCA377301147DUSP29,KAT6Bc.5423A>C (p.Tyr1808Ser)
c.4874A>C (p.Tyr1625Ser)
c.4547A>C (p.Tyr1516Ser)
n.577-3653T>G
c.*3622-3653T>G (n.*3622-3653T>G)
c.5261A>C (p.Tyr1754Ser)
c.4385A>C (p.Tyr1462Ser)
c.3734A>C (p.Tyr1245Ser)
c.3338A>C (p.Tyr1113Ser)
c.3080A>C (p.Tyr1027Ser)
c.4358A>C (p.Tyr1453Ser)
 dbSNP
10g.75030247A>GCA377301149DUSP29,KAT6Bc.5423A>G (p.Tyr1808Cys)
c.4874A>G (p.Tyr1625Cys)
c.4547A>G (p.Tyr1516Cys)
n.577-3653T>C
c.*3622-3653T>C (n.*3622-3653T>C)
c.5261A>G (p.Tyr1754Cys)
c.4385A>G (p.Tyr1462Cys)
c.3734A>G (p.Tyr1245Cys)
c.3338A>G (p.Tyr1113Cys)
c.3080A>G (p.Tyr1027Cys)
c.4358A>G (p.Tyr1453Cys)
 ClinVar
10g.75030247A>TCA377301150DUSP29,KAT6Bc.5423A>T (p.Tyr1808Phe)
c.4874A>T (p.Tyr1625Phe)
c.4547A>T (p.Tyr1516Phe)
n.577-3653T>A
c.*3622-3653T>A (n.*3622-3653T>A)
c.5261A>T (p.Tyr1754Phe)
c.4385A>T (p.Tyr1462Phe)
c.3734A>T (p.Tyr1245Phe)
c.3338A>T (p.Tyr1113Phe)
c.3080A>T (p.Tyr1027Phe)
c.4358A>T (p.Tyr1453Phe)
10g.75030248C>ACA377301154DUSP29,KAT6Bc.5424C>A (p.Tyr1808Ter)
c.4875C>A (p.Tyr1625Ter)
c.4548C>A (p.Tyr1516Ter)
n.577-3654G>T
c.*3622-3654G>T (n.*3622-3654G>T)
c.5262C>A (p.Tyr1754Ter)
c.4386C>A (p.Tyr1462Ter)
c.3735C>A (p.Tyr1245Ter)
c.3339C>A (p.Tyr1113Ter)
c.3081C>A (p.Tyr1027Ter)
c.4359C>A (p.Tyr1453Ter)
10g.75030248C>GCA377301155DUSP29,KAT6Bc.5424C>G (p.Tyr1808Ter)
c.4875C>G (p.Tyr1625Ter)
c.4548C>G (p.Tyr1516Ter)
n.577-3654G>C
c.*3622-3654G>C (n.*3622-3654G>C)
c.5262C>G (p.Tyr1754Ter)
c.4386C>G (p.Tyr1462Ter)
c.3735C>G (p.Tyr1245Ter)
c.3339C>G (p.Tyr1113Ter)
c.3081C>G (p.Tyr1027Ter)
c.4359C>G (p.Tyr1453Ter)
10g.75030248C>TCA470300873DUSP29,KAT6Bc.5424C>T (p.Tyr1808=)
c.4875C>T (p.Tyr1625=)
c.4548C>T (p.Tyr1516=)
n.577-3654G>A
c.*3622-3654G>A (n.*3622-3654G>A)
c.5262C>T (p.Tyr1754=)
c.4386C>T (p.Tyr1462=)
c.3735C>T (p.Tyr1245=)
c.3339C>T (p.Tyr1113=)
c.3081C>T (p.Tyr1027=)
c.4359C>T (p.Tyr1453=)
10g.75030249C>ACA377301159DUSP29,KAT6Bc.5425C>A (p.Pro1809Thr)
c.4876C>A (p.Pro1626Thr)
c.4549C>A (p.Pro1517Thr)
n.577-3655G>T
c.*3622-3655G>T (n.*3622-3655G>T)
c.5263C>A (p.Pro1755Thr)
c.4387C>A (p.Pro1463Thr)
c.3736C>A (p.Pro1246Thr)
c.3340C>A (p.Pro1114Thr)
c.3082C>A (p.Pro1028Thr)
c.4360C>A (p.Pro1454Thr)
10g.75030249C=CA1920307007DUSP29,KAT6Bc.5425C= (p.Pro1809=)
c.4876C= (p.Pro1626=)
c.4549C= (p.Pro1517=)
n.577-3655G=
c.*3622-3655G= (n.*3622-3655G=)
c.5263C= (p.Pro1755=)
c.4387C= (p.Pro1463=)
c.3736C= (p.Pro1246=)
c.3340C= (p.Pro1114=)
c.3082C= (p.Pro1028=)
c.4360C= (p.Pro1454=)
10g.75030249C>GCA377301161DUSP29,KAT6Bc.5425C>G (p.Pro1809Ala)
c.4876C>G (p.Pro1626Ala)
c.4549C>G (p.Pro1517Ala)
n.577-3655G>C
c.*3622-3655G>C (n.*3622-3655G>C)
c.5263C>G (p.Pro1755Ala)
c.4387C>G (p.Pro1463Ala)
c.3736C>G (p.Pro1246Ala)
c.3340C>G (p.Pro1114Ala)
c.3082C>G (p.Pro1028Ala)
c.4360C>G (p.Pro1454Ala)
10g.75030249C>TCA377301163DUSP29,KAT6Bc.5425C>T (p.Pro1809Ser)
c.4876C>T (p.Pro1626Ser)
c.4549C>T (p.Pro1517Ser)
n.577-3655G>A
c.*3622-3655G>A (n.*3622-3655G>A)
c.5263C>T (p.Pro1755Ser)
c.4387C>T (p.Pro1463Ser)
c.3736C>T (p.Pro1246Ser)
c.3340C>T (p.Pro1114Ser)
c.3082C>T (p.Pro1028Ser)
c.4360C>T (p.Pro1454Ser)
 ClinVar dbSNP gnomAD v4
10g.75030250C>ACA377301168DUSP29,KAT6Bc.5426C>A (p.Pro1809Gln)
c.4877C>A (p.Pro1626Gln)
c.4550C>A (p.Pro1517Gln)
n.577-3656G>T
c.*3622-3656G>T (n.*3622-3656G>T)
c.5264C>A (p.Pro1755Gln)
c.4388C>A (p.Pro1463Gln)
c.3737C>A (p.Pro1246Gln)
c.3341C>A (p.Pro1114Gln)
c.3083C>A (p.Pro1028Gln)
c.4361C>A (p.Pro1454Gln)
10g.75030250C=CA1920307008DUSP29,KAT6Bc.5426C= (p.Pro1809=)
c.4877C= (p.Pro1626=)
c.4550C= (p.Pro1517=)
n.577-3656G=
c.*3622-3656G= (n.*3622-3656G=)
c.5264C= (p.Pro1755=)
c.4388C= (p.Pro1463=)
c.3737C= (p.Pro1246=)
c.3341C= (p.Pro1114=)
c.3083C= (p.Pro1028=)
c.4361C= (p.Pro1454=)
10g.75030250C>GCA377301167DUSP29,KAT6Bc.5426C>G (p.Pro1809Arg)
c.4877C>G (p.Pro1626Arg)
c.4550C>G (p.Pro1517Arg)
n.577-3656G>C
c.*3622-3656G>C (n.*3622-3656G>C)
c.5264C>G (p.Pro1755Arg)
c.4388C>G (p.Pro1463Arg)
c.3737C>G (p.Pro1246Arg)
c.3341C>G (p.Pro1114Arg)
c.3083C>G (p.Pro1028Arg)
c.4361C>G (p.Pro1454Arg)
 gnomAD v4
10g.75030250C>TCA5565197DUSP29,KAT6Bc.5426C>T (p.Pro1809Leu)
c.4877C>T (p.Pro1626Leu)
c.4550C>T (p.Pro1517Leu)
n.577-3656G>A
c.*3622-3656G>A (n.*3622-3656G>A)
c.5264C>T (p.Pro1755Leu)
c.4388C>T (p.Pro1463Leu)
c.3737C>T (p.Pro1246Leu)
c.3341C>T (p.Pro1114Leu)
c.3083C>T (p.Pro1028Leu)
c.4361C>T (p.Pro1454Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.75030251G>ACA5565199DUSP29,KAT6Bc.5427G>A (p.Pro1809=)
c.4878G>A (p.Pro1626=)
c.4551G>A (p.Pro1517=)
n.577-3657C>T
c.*3622-3657C>T (n.*3622-3657C>T)
c.5265G>A (p.Pro1755=)
c.4389G>A (p.Pro1463=)
c.3738G>A (p.Pro1246=)
c.3342G>A (p.Pro1114=)
c.3084G>A (p.Pro1028=)
c.4362G>A (p.Pro1454=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.75030251G>CCA470300874DUSP29,KAT6Bc.5427G>C (p.Pro1809=)
c.4878G>C (p.Pro1626=)
c.4551G>C (p.Pro1517=)
n.577-3657C>G
c.*3622-3657C>G (n.*3622-3657C>G)
c.5265G>C (p.Pro1755=)
c.4389G>C (p.Pro1463=)
c.3738G>C (p.Pro1246=)
c.3342G>C (p.Pro1114=)
c.3084G>C (p.Pro1028=)
c.4362G>C (p.Pro1454=)
10g.75030251G=CA1920307009DUSP29,KAT6Bc.5427G= (p.Pro1809=)
c.4878G= (p.Pro1626=)
c.4551G= (p.Pro1517=)
n.577-3657C=
c.*3622-3657C= (n.*3622-3657C=)
c.5265G= (p.Pro1755=)
c.4389G= (p.Pro1463=)
c.3738G= (p.Pro1246=)
c.3342G= (p.Pro1114=)
c.3084G= (p.Pro1028=)
c.4362G= (p.Pro1454=)
10g.75030251G>TCA5565198DUSP29,KAT6Bc.5427G>T (p.Pro1809=)
c.4878G>T (p.Pro1626=)
c.4551G>T (p.Pro1517=)
n.577-3657C>A
c.*3622-3657C>A (n.*3622-3657C>A)
c.5265G>T (p.Pro1755=)
c.4389G>T (p.Pro1463=)
c.3738G>T (p.Pro1246=)
c.3342G>T (p.Pro1114=)
c.3084G>T (p.Pro1028=)
c.4362G>T (p.Pro1454=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.75030252C>ACA377301173DUSP29,KAT6Bc.5428C>A (p.Gln1810Lys)
c.4879C>A (p.Gln1627Lys)
c.4552C>A (p.Gln1518Lys)
n.577-3658G>T
c.*3622-3658G>T (n.*3622-3658G>T)
c.5266C>A (p.Gln1756Lys)
c.4390C>A (p.Gln1464Lys)
c.3739C>A (p.Gln1247Lys)
c.3343C>A (p.Gln1115Lys)
c.3085C>A (p.Gln1029Lys)
c.4363C>A (p.Gln1455Lys)
10g.75030252C>GCA377301174DUSP29,KAT6Bc.5428C>G (p.Gln1810Glu)
c.4879C>G (p.Gln1627Glu)
c.4552C>G (p.Gln1518Glu)
n.577-3658G>C
c.*3622-3658G>C (n.*3622-3658G>C)
c.5266C>G (p.Gln1756Glu)
c.4390C>G (p.Gln1464Glu)
c.3739C>G (p.Gln1247Glu)
c.3343C>G (p.Gln1115Glu)
c.3085C>G (p.Gln1029Glu)
c.4363C>G (p.Gln1455Glu)
10g.75030252C>TCA377301177DUSP29,KAT6Bc.5428C>T (p.Gln1810Ter)
c.4879C>T (p.Gln1627Ter)
c.4552C>T (p.Gln1518Ter)
n.577-3658G>A
c.*3622-3658G>A (n.*3622-3658G>A)
c.5266C>T (p.Gln1756Ter)
c.4390C>T (p.Gln1464Ter)
c.3739C>T (p.Gln1247Ter)
c.3343C>T (p.Gln1115Ter)
c.3085C>T (p.Gln1029Ter)
c.4363C>T (p.Gln1455Ter)
10g.75030253A>CCA377301180DUSP29,KAT6Bc.5429A>C (p.Gln1810Pro)
c.4880A>C (p.Gln1627Pro)
c.4553A>C (p.Gln1518Pro)
n.577-3659T>G
c.*3622-3659T>G (n.*3622-3659T>G)
c.5267A>C (p.Gln1756Pro)
c.4391A>C (p.Gln1464Pro)
c.3740A>C (p.Gln1247Pro)
c.3344A>C (p.Gln1115Pro)
c.3086A>C (p.Gln1029Pro)
c.4364A>C (p.Gln1455Pro)
10g.75030253A>GCA377301181DUSP29,KAT6Bc.5429A>G (p.Gln1810Arg)
c.4880A>G (p.Gln1627Arg)
c.4553A>G (p.Gln1518Arg)
n.577-3659T>C
c.*3622-3659T>C (n.*3622-3659T>C)
c.5267A>G (p.Gln1756Arg)
c.4391A>G (p.Gln1464Arg)
c.3740A>G (p.Gln1247Arg)
c.3344A>G (p.Gln1115Arg)
c.3086A>G (p.Gln1029Arg)
c.4364A>G (p.Gln1455Arg)
10g.75030253A>TCA377301183DUSP29,KAT6Bc.5429A>T (p.Gln1810Leu)
c.4880A>T (p.Gln1627Leu)
c.4553A>T (p.Gln1518Leu)
n.577-3659T>A
c.*3622-3659T>A (n.*3622-3659T>A)
c.5267A>T (p.Gln1756Leu)
c.4391A>T (p.Gln1464Leu)
c.3740A>T (p.Gln1247Leu)
c.3344A>T (p.Gln1115Leu)
c.3086A>T (p.Gln1029Leu)
c.4364A>T (p.Gln1455Leu)
10g.75030254G>ACA470300875DUSP29,KAT6Bc.5430G>A (p.Gln1810=)
c.4881G>A (p.Gln1627=)
c.4554G>A (p.Gln1518=)
n.577-3660C>T
c.*3622-3660C>T (n.*3622-3660C>T)
c.5268G>A (p.Gln1756=)
c.4392G>A (p.Gln1464=)
c.3741G>A (p.Gln1247=)
c.3345G>A (p.Gln1115=)
c.3087G>A (p.Gln1029=)
c.4365G>A (p.Gln1455=)
10g.75030254G>CCA377301184DUSP29,KAT6Bc.5430G>C (p.Gln1810His)
c.4881G>C (p.Gln1627His)
c.4554G>C (p.Gln1518His)
n.577-3660C>G
c.*3622-3660C>G (n.*3622-3660C>G)
c.5268G>C (p.Gln1756His)
c.4392G>C (p.Gln1464His)
c.3741G>C (p.Gln1247His)
c.3345G>C (p.Gln1115His)
c.3087G>C (p.Gln1029His)
c.4365G>C (p.Gln1455His)
10g.75030254G>TCA377301186DUSP29,KAT6Bc.5430G>T (p.Gln1810His)
c.4881G>T (p.Gln1627His)
c.4554G>T (p.Gln1518His)
n.577-3660C>A
c.*3622-3660C>A (n.*3622-3660C>A)
c.5268G>T (p.Gln1756His)
c.4392G>T (p.Gln1464His)
c.3741G>T (p.Gln1247His)
c.3345G>T (p.Gln1115His)
c.3087G>T (p.Gln1029His)
c.4365G>T (p.Gln1455His)
10g.75030255C>ACA377301188DUSP29,KAT6Bc.5431C>A (p.Pro1811Thr)
c.4882C>A (p.Pro1628Thr)
c.4555C>A (p.Pro1519Thr)
n.577-3661G>T
c.*3622-3661G>T (n.*3622-3661G>T)
c.5269C>A (p.Pro1757Thr)
c.4393C>A (p.Pro1465Thr)
c.3742C>A (p.Pro1248Thr)
c.3346C>A (p.Pro1116Thr)
c.3088C>A (p.Pro1030Thr)
c.4366C>A (p.Pro1456Thr)
10g.75030255C>GCA377301190DUSP29,KAT6Bc.5431C>G (p.Pro1811Ala)
c.4882C>G (p.Pro1628Ala)
c.4555C>G (p.Pro1519Ala)
n.577-3661G>C
c.*3622-3661G>C (n.*3622-3661G>C)
c.5269C>G (p.Pro1757Ala)
c.4393C>G (p.Pro1465Ala)
c.3742C>G (p.Pro1248Ala)
c.3346C>G (p.Pro1116Ala)
c.3088C>G (p.Pro1030Ala)
c.4366C>G (p.Pro1456Ala)
10g.75030255C>TCA377301192DUSP29,KAT6Bc.5431C>T (p.Pro1811Ser)
c.4882C>T (p.Pro1628Ser)
c.4555C>T (p.Pro1519Ser)
n.577-3661G>A
c.*3622-3661G>A (n.*3622-3661G>A)
c.5269C>T (p.Pro1757Ser)
c.4393C>T (p.Pro1465Ser)
c.3742C>T (p.Pro1248Ser)
c.3346C>T (p.Pro1116Ser)
c.3088C>T (p.Pro1030Ser)
c.4366C>T (p.Pro1456Ser)
10g.75030256C>ACA377301198DUSP29,KAT6Bc.5432C>A (p.Pro1811Gln)
c.4883C>A (p.Pro1628Gln)
c.4556C>A (p.Pro1519Gln)
n.577-3662G>T
c.*3622-3662G>T (n.*3622-3662G>T)
c.5270C>A (p.Pro1757Gln)
c.4394C>A (p.Pro1465Gln)
c.3743C>A (p.Pro1248Gln)
c.3347C>A (p.Pro1116Gln)
c.3089C>A (p.Pro1030Gln)
c.4367C>A (p.Pro1456Gln)
10g.75030256C=CA1920307010DUSP29,KAT6Bc.5432C= (p.Pro1811=)
c.4883C= (p.Pro1628=)
c.4556C= (p.Pro1519=)
n.577-3662G=
c.*3622-3662G= (n.*3622-3662G=)
c.5270C= (p.Pro1757=)
c.4394C= (p.Pro1465=)
c.3743C= (p.Pro1248=)
c.3347C= (p.Pro1116=)
c.3089C= (p.Pro1030=)
c.4367C= (p.Pro1456=)
10g.75030256C>GCA377301196DUSP29,KAT6Bc.5432C>G (p.Pro1811Arg)
c.4883C>G (p.Pro1628Arg)
c.4556C>G (p.Pro1519Arg)
n.577-3662G>C
c.*3622-3662G>C (n.*3622-3662G>C)
c.5270C>G (p.Pro1757Arg)
c.4394C>G (p.Pro1465Arg)
c.3743C>G (p.Pro1248Arg)
c.3347C>G (p.Pro1116Arg)
c.3089C>G (p.Pro1030Arg)
c.4367C>G (p.Pro1456Arg)
10g.75030256C>TCA5565200DUSP29,KAT6Bc.5432C>T (p.Pro1811Leu)
c.4883C>T (p.Pro1628Leu)
c.4556C>T (p.Pro1519Leu)
n.577-3662G>A
c.*3622-3662G>A (n.*3622-3662G>A)
c.5270C>T (p.Pro1757Leu)
c.4394C>T (p.Pro1465Leu)
c.3743C>T (p.Pro1248Leu)
c.3347C>T (p.Pro1116Leu)
c.3089C>T (p.Pro1030Leu)
c.4367C>T (p.Pro1456Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.75030257G>ACA5565201DUSP29,KAT6Bc.5433G>A (p.Pro1811=)
c.4884G>A (p.Pro1628=)
c.4557G>A (p.Pro1519=)
n.577-3663C>T
c.*3622-3663C>T (n.*3622-3663C>T)
c.5271G>A (p.Pro1757=)
c.4395G>A (p.Pro1465=)
c.3744G>A (p.Pro1248=)
c.3348G>A (p.Pro1116=)
c.3090G>A (p.Pro1030=)
c.4368G>A (p.Pro1456=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.75030257G>CCA470300876DUSP29,KAT6Bc.5433G>C (p.Pro1811=)
c.4884G>C (p.Pro1628=)
c.4557G>C (p.Pro1519=)
n.577-3663C>G
c.*3622-3663C>G (n.*3622-3663C>G)
c.5271G>C (p.Pro1757=)
c.4395G>C (p.Pro1465=)
c.3744G>C (p.Pro1248=)
c.3348G>C (p.Pro1116=)
c.3090G>C (p.Pro1030=)
c.4368G>C (p.Pro1456=)
 dbSNP
10g.75030257G=CA1920307011DUSP29,KAT6Bc.5433G= (p.Pro1811=)
c.4884G= (p.Pro1628=)
c.4557G= (p.Pro1519=)
n.577-3663C=
c.*3622-3663C= (n.*3622-3663C=)
c.5271G= (p.Pro1757=)
c.4395G= (p.Pro1465=)
c.3744G= (p.Pro1248=)
c.3348G= (p.Pro1116=)
c.3090G= (p.Pro1030=)
c.4368G= (p.Pro1456=)
10g.75030257G>TCA470300877DUSP29,KAT6Bc.5433G>T (p.Pro1811=)
c.4884G>T (p.Pro1628=)
c.4557G>T (p.Pro1519=)
n.577-3663C>A
c.*3622-3663C>A (n.*3622-3663C>A)
c.5271G>T (p.Pro1757=)
c.4395G>T (p.Pro1465=)
c.3744G>T (p.Pro1248=)
c.3348G>T (p.Pro1116=)
c.3090G>T (p.Pro1030=)
c.4368G>T (p.Pro1456=)
 dbSNP gnomAD v2 gnomAD v4
10g.75030258T>ACA377301203DUSP29,KAT6Bc.5434T>A (p.Ser1812Thr)
c.4885T>A (p.Ser1629Thr)
c.4558T>A (p.Ser1520Thr)
n.577-3664A>T
c.*3622-3664A>T (n.*3622-3664A>T)
c.5272T>A (p.Ser1758Thr)
c.4396T>A (p.Ser1466Thr)
c.3745T>A (p.Ser1249Thr)
c.3349T>A (p.Ser1117Thr)
c.3091T>A (p.Ser1031Thr)
c.4369T>A (p.Ser1457Thr)
10g.75030258T>CCA5565202DUSP29,KAT6Bc.5434T>C (p.Ser1812Pro)
c.4885T>C (p.Ser1629Pro)
c.4558T>C (p.Ser1520Pro)
n.577-3664A>G
c.*3622-3664A>G (n.*3622-3664A>G)
c.5272T>C (p.Ser1758Pro)
c.4396T>C (p.Ser1466Pro)
c.3745T>C (p.Ser1249Pro)
c.3349T>C (p.Ser1117Pro)
c.3091T>C (p.Ser1031Pro)
c.4369T>C (p.Ser1457Pro)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.75030258T>GCA377301205DUSP29,KAT6Bc.5434T>G (p.Ser1812Ala)
c.4885T>G (p.Ser1629Ala)
c.4558T>G (p.Ser1520Ala)
n.577-3664A>C
c.*3622-3664A>C (n.*3622-3664A>C)
c.5272T>G (p.Ser1758Ala)
c.4396T>G (p.Ser1466Ala)
c.3745T>G (p.Ser1249Ala)
c.3349T>G (p.Ser1117Ala)
c.3091T>G (p.Ser1031Ala)
c.4369T>G (p.Ser1457Ala)
10g.75030258T=CA1920307012DUSP29,KAT6Bc.5434T= (p.Ser1812=)
c.4885T= (p.Ser1629=)
c.4558T= (p.Ser1520=)
n.577-3664A=
c.*3622-3664A= (n.*3622-3664A=)
c.5272T= (p.Ser1758=)
c.4396T= (p.Ser1466=)
c.3745T= (p.Ser1249=)
c.3349T= (p.Ser1117=)
c.3091T= (p.Ser1031=)
c.4369T= (p.Ser1457=)
10g.75030259C>ACA377301207DUSP29,KAT6Bc.5435C>A (p.Ser1812Ter)
c.4886C>A (p.Ser1629Ter)
c.4559C>A (p.Ser1520Ter)
n.577-3665G>T
c.*3622-3665G>T (n.*3622-3665G>T)
c.5273C>A (p.Ser1758Ter)
c.4397C>A (p.Ser1466Ter)
c.3746C>A (p.Ser1249Ter)
c.3350C>A (p.Ser1117Ter)
c.3092C>A (p.Ser1031Ter)
c.4370C>A (p.Ser1457Ter)
10g.75030259C>GCA377301209DUSP29,KAT6Bc.5435C>G (p.Ser1812Ter)
c.4886C>G (p.Ser1629Ter)
c.4559C>G (p.Ser1520Ter)
n.577-3665G>C
c.*3622-3665G>C (n.*3622-3665G>C)
c.5273C>G (p.Ser1758Ter)
c.4397C>G (p.Ser1466Ter)
c.3746C>G (p.Ser1249Ter)
c.3350C>G (p.Ser1117Ter)
c.3092C>G (p.Ser1031Ter)
c.4370C>G (p.Ser1457Ter)
10g.75030259C>TCA377301211DUSP29,KAT6Bc.5435C>T (p.Ser1812Leu)
c.4886C>T (p.Ser1629Leu)
c.4559C>T (p.Ser1520Leu)
n.577-3665G>A
c.*3622-3665G>A (n.*3622-3665G>A)
c.5273C>T (p.Ser1758Leu)
c.4397C>T (p.Ser1466Leu)
c.3746C>T (p.Ser1249Leu)
c.3350C>T (p.Ser1117Leu)
c.3092C>T (p.Ser1031Leu)
c.4370C>T (p.Ser1457Leu)
10g.75030260A>CCA470300878DUSP29,KAT6Bc.5436A>C (p.Ser1812=)
c.4887A>C (p.Ser1629=)
c.4560A>C (p.Ser1520=)
n.577-3666T>G
c.*3622-3666T>G (n.*3622-3666T>G)
c.5274A>C (p.Ser1758=)
c.4398A>C (p.Ser1466=)
c.3747A>C (p.Ser1249=)
c.3351A>C (p.Ser1117=)
c.3093A>C (p.Ser1031=)
c.4371A>C (p.Ser1457=)
10g.75030260A>GCA470300879DUSP29,KAT6Bc.5436A>G (p.Ser1812=)
c.4887A>G (p.Ser1629=)
c.4560A>G (p.Ser1520=)
n.577-3666T>C
c.*3622-3666T>C (n.*3622-3666T>C)
c.5274A>G (p.Ser1758=)
c.4398A>G (p.Ser1466=)
c.3747A>G (p.Ser1249=)
c.3351A>G (p.Ser1117=)
c.3093A>G (p.Ser1031=)
c.4371A>G (p.Ser1457=)
10g.75030260A>TCA470300880DUSP29,KAT6Bc.5436A>T (p.Ser1812=)
c.4887A>T (p.Ser1629=)
c.4560A>T (p.Ser1520=)
n.577-3666T>A
c.*3622-3666T>A (n.*3622-3666T>A)
c.5274A>T (p.Ser1758=)
c.4398A>T (p.Ser1466=)
c.3747A>T (p.Ser1249=)
c.3351A>T (p.Ser1117=)
c.3093A>T (p.Ser1031=)
c.4371A>T (p.Ser1457=)
10g.75030261G>ACA377301215DUSP29,KAT6Bc.5437G>A (p.Ala1813Thr)
c.4888G>A (p.Ala1630Thr)
c.4561G>A (p.Ala1521Thr)
n.577-3667C>T
c.*3622-3667C>T (n.*3622-3667C>T)
c.5275G>A (p.Ala1759Thr)
c.4399G>A (p.Ala1467Thr)
c.3748G>A (p.Ala1250Thr)
c.3352G>A (p.Ala1118Thr)
c.3094G>A (p.Ala1032Thr)
c.4372G>A (p.Ala1458Thr)
10g.75030261G>CCA377301216DUSP29,KAT6Bc.5437G>C (p.Ala1813Pro)
c.4888G>C (p.Ala1630Pro)
c.4561G>C (p.Ala1521Pro)
n.577-3667C>G
c.*3622-3667C>G (n.*3622-3667C>G)
c.5275G>C (p.Ala1759Pro)
c.4399G>C (p.Ala1467Pro)
c.3748G>C (p.Ala1250Pro)
c.3352G>C (p.Ala1118Pro)
c.3094G>C (p.Ala1032Pro)
c.4372G>C (p.Ala1458Pro)
10g.75030261G>TCA377301218DUSP29,KAT6Bc.5437G>T (p.Ala1813Ser)
c.4888G>T (p.Ala1630Ser)
c.4561G>T (p.Ala1521Ser)
n.577-3667C>A
c.*3622-3667C>A (n.*3622-3667C>A)
c.5275G>T (p.Ala1759Ser)
c.4399G>T (p.Ala1467Ser)
c.3748G>T (p.Ala1250Ser)
c.3352G>T (p.Ala1118Ser)
c.3094G>T (p.Ala1032Ser)
c.4372G>T (p.Ala1458Ser)
10g.75030262C>ACA377301220DUSP29,KAT6Bc.5438C>A (p.Ala1813Asp)
c.4889C>A (p.Ala1630Asp)
c.4562C>A (p.Ala1521Asp)
n.577-3668G>T
c.*3622-3668G>T (n.*3622-3668G>T)
c.5276C>A (p.Ala1759Asp)
c.4400C>A (p.Ala1467Asp)
c.3749C>A (p.Ala1250Asp)
c.3353C>A (p.Ala1118Asp)
c.3095C>A (p.Ala1032Asp)
c.4373C>A (p.Ala1458Asp)
10g.75030262C>GCA377301222DUSP29,KAT6Bc.5438C>G (p.Ala1813Gly)
c.4889C>G (p.Ala1630Gly)
c.4562C>G (p.Ala1521Gly)
n.577-3668G>C
c.*3622-3668G>C (n.*3622-3668G>C)
c.5276C>G (p.Ala1759Gly)
c.4400C>G (p.Ala1467Gly)
c.3749C>G (p.Ala1250Gly)
c.3353C>G (p.Ala1118Gly)
c.3095C>G (p.Ala1032Gly)
c.4373C>G (p.Ala1458Gly)
 gnomAD v4
10g.75030262C>TCA377301224DUSP29,KAT6Bc.5438C>T (p.Ala1813Val)
c.4889C>T (p.Ala1630Val)
c.4562C>T (p.Ala1521Val)
n.577-3668G>A
c.*3622-3668G>A (n.*3622-3668G>A)
c.5276C>T (p.Ala1759Val)
c.4400C>T (p.Ala1467Val)
c.3749C>T (p.Ala1250Val)
c.3353C>T (p.Ala1118Val)
c.3095C>T (p.Ala1032Val)
c.4373C>T (p.Ala1458Val)
10g.75030263C>ACA470300881DUSP29,KAT6Bc.5439C>A (p.Ala1813=)
c.4890C>A (p.Ala1630=)
c.4563C>A (p.Ala1521=)
n.577-3669G>T
c.*3622-3669G>T (n.*3622-3669G>T)
c.5277C>A (p.Ala1759=)
c.4401C>A (p.Ala1467=)
c.3750C>A (p.Ala1250=)
c.3354C>A (p.Ala1118=)
c.3096C>A (p.Ala1032=)
c.4374C>A (p.Ala1458=)
10g.75030263C=CA1920307013DUSP29,KAT6Bc.5439C= (p.Ala1813=)
c.4890C= (p.Ala1630=)
c.4563C= (p.Ala1521=)
n.577-3669G=
c.*3622-3669G= (n.*3622-3669G=)
c.5277C= (p.Ala1759=)
c.4401C= (p.Ala1467=)
c.3750C= (p.Ala1250=)
c.3354C= (p.Ala1118=)
c.3096C= (p.Ala1032=)
c.4374C= (p.Ala1458=)
10g.75030263C>GCA470300882DUSP29,KAT6Bc.5439C>G (p.Ala1813=)
c.4890C>G (p.Ala1630=)
c.4563C>G (p.Ala1521=)
n.577-3669G>C
c.*3622-3669G>C (n.*3622-3669G>C)
c.5277C>G (p.Ala1759=)
c.4401C>G (p.Ala1467=)
c.3750C>G (p.Ala1250=)
c.3354C>G (p.Ala1118=)
c.3096C>G (p.Ala1032=)
c.4374C>G (p.Ala1458=)
10g.75030263C>TCA5565203DUSP29,KAT6Bc.5439C>T (p.Ala1813=)
c.4890C>T (p.Ala1630=)
c.4563C>T (p.Ala1521=)
n.577-3669G>A
c.*3622-3669G>A (n.*3622-3669G>A)
c.5277C>T (p.Ala1759=)
c.4401C>T (p.Ala1467=)
c.3750C>T (p.Ala1250=)
c.3354C>T (p.Ala1118=)
c.3096C>T (p.Ala1032=)
c.4374C>T (p.Ala1458=)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.75030264A>CCA377301232DUSP29,KAT6Bc.5440A>C (p.Thr1814Pro)
c.4891A>C (p.Thr1631Pro)
c.4564A>C (p.Thr1522Pro)
n.577-3670T>G
c.*3622-3670T>G (n.*3622-3670T>G)
c.5278A>C (p.Thr1760Pro)
c.4402A>C (p.Thr1468Pro)
c.3751A>C (p.Thr1251Pro)
c.3355A>C (p.Thr1119Pro)
c.3097A>C (p.Thr1033Pro)
c.4375A>C (p.Thr1459Pro)
10g.75030264A>GCA377301230DUSP29,KAT6Bc.5440A>G (p.Thr1814Ala)
c.4891A>G (p.Thr1631Ala)
c.4564A>G (p.Thr1522Ala)
n.577-3670T>C
c.*3622-3670T>C (n.*3622-3670T>C)
c.5278A>G (p.Thr1760Ala)
c.4402A>G (p.Thr1468Ala)
c.3751A>G (p.Thr1251Ala)
c.3355A>G (p.Thr1119Ala)
c.3097A>G (p.Thr1033Ala)
c.4375A>G (p.Thr1459Ala)
10g.75030264A>TCA377301228DUSP29,KAT6Bc.5440A>T (p.Thr1814Ser)
c.4891A>T (p.Thr1631Ser)
c.4564A>T (p.Thr1522Ser)
n.577-3670T>A
c.*3622-3670T>A (n.*3622-3670T>A)
c.5278A>T (p.Thr1760Ser)
c.4402A>T (p.Thr1468Ser)
c.3751A>T (p.Thr1251Ser)
c.3355A>T (p.Thr1119Ser)
c.3097A>T (p.Thr1033Ser)
c.4375A>T (p.Thr1459Ser)
10g.75030265C>ACA377301234DUSP29,KAT6Bc.5441C>A (p.Thr1814Asn)
c.4892C>A (p.Thr1631Asn)
c.4565C>A (p.Thr1522Asn)
n.577-3671G>T
c.*3622-3671G>T (n.*3622-3671G>T)
c.5279C>A (p.Thr1760Asn)
c.4403C>A (p.Thr1468Asn)
c.3752C>A (p.Thr1251Asn)
c.3356C>A (p.Thr1119Asn)
c.3098C>A (p.Thr1033Asn)
c.4376C>A (p.Thr1459Asn)
 gnomAD v4
10g.75030265C>GCA377301236DUSP29,KAT6Bc.5441C>G (p.Thr1814Ser)
c.4892C>G (p.Thr1631Ser)
c.4565C>G (p.Thr1522Ser)
n.577-3671G>C
c.*3622-3671G>C (n.*3622-3671G>C)
c.5279C>G (p.Thr1760Ser)
c.4403C>G (p.Thr1468Ser)
c.3752C>G (p.Thr1251Ser)
c.3356C>G (p.Thr1119Ser)
c.3098C>G (p.Thr1033Ser)
c.4376C>G (p.Thr1459Ser)
10g.75030265C>TCA377301237DUSP29,KAT6Bc.5441C>T (p.Thr1814Ile)
c.4892C>T (p.Thr1631Ile)
c.4565C>T (p.Thr1522Ile)
n.577-3671G>A
c.*3622-3671G>A (n.*3622-3671G>A)
c.5279C>T (p.Thr1760Ile)
c.4403C>T (p.Thr1468Ile)
c.3752C>T (p.Thr1251Ile)
c.3356C>T (p.Thr1119Ile)
c.3098C>T (p.Thr1033Ile)
c.4376C>T (p.Thr1459Ile)
10g.75030266_75030269delCA2695212223DUSP29,KAT6Bc.5442_5445del (p.Phe1815AlafsTer8)
c.4893_4896del (p.Phe1632AlafsTer8)
c.4566_4569del (p.Phe1523AlafsTer8)
n.577-3674_577-3671del
c.*3622-3674_*3622-3671del (n.*3622-3674_*3622-3671del)
c.5280_5283del (p.Phe1761AlafsTer8)
c.4404_4407del (p.Phe1469AlafsTer8)
c.3753_3756del (p.Phe1252AlafsTer8)
c.3357_3360del (p.Phe1120AlafsTer8)
c.3099_3102del (p.Phe1034AlafsTer8)
c.4377_4380del (p.Phe1460AlafsTer8)
10g.75030266C>ACA5565204DUSP29,KAT6Bc.5442C>A (p.Thr1814=)
c.4893C>A (p.Thr1631=)
c.4566C>A (p.Thr1522=)
n.577-3672G>T
c.*3622-3672G>T (n.*3622-3672G>T)
c.5280C>A (p.Thr1760=)
c.4404C>A (p.Thr1468=)
c.3753C>A (p.Thr1251=)
c.3357C>A (p.Thr1119=)
c.3099C>A (p.Thr1033=)
c.4377C>A (p.Thr1459=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.75030266C=CA1920307014DUSP29,KAT6Bc.5442C= (p.Thr1814=)
c.4893C= (p.Thr1631=)
c.4566C= (p.Thr1522=)
n.577-3672G=
c.*3622-3672G= (n.*3622-3672G=)
c.5280C= (p.Thr1760=)
c.4404C= (p.Thr1468=)
c.3753C= (p.Thr1251=)
c.3357C= (p.Thr1119=)
c.3099C= (p.Thr1033=)
c.4377C= (p.Thr1459=)
10g.75030266C>GCA470300883DUSP29,KAT6Bc.5442C>G (p.Thr1814=)
c.4893C>G (p.Thr1631=)
c.4566C>G (p.Thr1522=)
n.577-3672G>C
c.*3622-3672G>C (n.*3622-3672G>C)
c.5280C>G (p.Thr1760=)
c.4404C>G (p.Thr1468=)
c.3753C>G (p.Thr1251=)
c.3357C>G (p.Thr1119=)
c.3099C>G (p.Thr1033=)
c.4377C>G (p.Thr1459=)
10g.75030266C>TCA470300884DUSP29,KAT6Bc.5442C>T (p.Thr1814=)
c.4893C>T (p.Thr1631=)
c.4566C>T (p.Thr1522=)
n.577-3672G>A
c.*3622-3672G>A (n.*3622-3672G>A)
c.5280C>T (p.Thr1760=)
c.4404C>T (p.Thr1468=)
c.3753C>T (p.Thr1251=)
c.3357C>T (p.Thr1119=)
c.3099C>T (p.Thr1033=)
c.4377C>T (p.Thr1459=)
10g.75030267T>ACA377301241DUSP29,KAT6Bc.5443T>A (p.Phe1815Ile)
c.4894T>A (p.Phe1632Ile)
c.4567T>A (p.Phe1523Ile)
n.577-3673A>T
c.*3622-3673A>T (n.*3622-3673A>T)
c.5281T>A (p.Phe1761Ile)
c.4405T>A (p.Phe1469Ile)
c.3754T>A (p.Phe1252Ile)
c.3358T>A (p.Phe1120Ile)
c.3100T>A (p.Phe1034Ile)
c.4378T>A (p.Phe1460Ile)
10g.75030267T>CCA377301243DUSP29,KAT6Bc.5443T>C (p.Phe1815Leu)
c.4894T>C (p.Phe1632Leu)
c.4567T>C (p.Phe1523Leu)
n.577-3673A>G
c.*3622-3673A>G (n.*3622-3673A>G)
c.5281T>C (p.Phe1761Leu)
c.4405T>C (p.Phe1469Leu)
c.3754T>C (p.Phe1252Leu)
c.3358T>C (p.Phe1120Leu)
c.3100T>C (p.Phe1034Leu)
c.4378T>C (p.Phe1460Leu)
10g.75030267T>GCA377301245DUSP29,KAT6Bc.5443T>G (p.Phe1815Val)
c.4894T>G (p.Phe1632Val)
c.4567T>G (p.Phe1523Val)
n.577-3673A>C
c.*3622-3673A>C (n.*3622-3673A>C)
c.5281T>G (p.Phe1761Val)
c.4405T>G (p.Phe1469Val)
c.3754T>G (p.Phe1252Val)
c.3358T>G (p.Phe1120Val)
c.3100T>G (p.Phe1034Val)
c.4378T>G (p.Phe1460Val)
10g.75030268T>ACA377301247DUSP29,KAT6Bc.5444T>A (p.Phe1815Tyr)
c.4895T>A (p.Phe1632Tyr)
c.4568T>A (p.Phe1523Tyr)
n.577-3674A>T
c.*3622-3674A>T (n.*3622-3674A>T)
c.5282T>A (p.Phe1761Tyr)
c.4406T>A (p.Phe1469Tyr)
c.3755T>A (p.Phe1252Tyr)
c.3359T>A (p.Phe1120Tyr)
c.3101T>A (p.Phe1034Tyr)
c.4379T>A (p.Phe1460Tyr)
10g.75030268T>CCA377301249DUSP29,KAT6Bc.5444T>C (p.Phe1815Ser)
c.4895T>C (p.Phe1632Ser)
c.4568T>C (p.Phe1523Ser)
n.577-3674A>G
c.*3622-3674A>G (n.*3622-3674A>G)
c.5282T>C (p.Phe1761Ser)
c.4406T>C (p.Phe1469Ser)
c.3755T>C (p.Phe1252Ser)
c.3359T>C (p.Phe1120Ser)
c.3101T>C (p.Phe1034Ser)
c.4379T>C (p.Phe1460Ser)
10g.75030268T>GCA377301251DUSP29,KAT6Bc.5444T>G (p.Phe1815Cys)
c.4895T>G (p.Phe1632Cys)
c.4568T>G (p.Phe1523Cys)
n.577-3674A>C
c.*3622-3674A>C (n.*3622-3674A>C)
c.5282T>G (p.Phe1761Cys)
c.4406T>G (p.Phe1469Cys)
c.3755T>G (p.Phe1252Cys)
c.3359T>G (p.Phe1120Cys)
c.3101T>G (p.Phe1034Cys)
c.4379T>G (p.Phe1460Cys)
 gnomAD v4
10g.75030269C>ACA377301253DUSP29,KAT6Bc.5445C>A (p.Phe1815Leu)
c.4896C>A (p.Phe1632Leu)
c.4569C>A (p.Phe1523Leu)
n.577-3675G>T
c.*3622-3675G>T (n.*3622-3675G>T)
c.5283C>A (p.Phe1761Leu)
c.4407C>A (p.Phe1469Leu)
c.3756C>A (p.Phe1252Leu)
c.3360C>A (p.Phe1120Leu)
c.3102C>A (p.Phe1034Leu)
c.4380C>A (p.Phe1460Leu)
10g.75030269C>GCA377301255DUSP29,KAT6Bc.5445C>G (p.Phe1815Leu)
c.4896C>G (p.Phe1632Leu)
c.4569C>G (p.Phe1523Leu)
n.577-3675G>C
c.*3622-3675G>C (n.*3622-3675G>C)
c.5283C>G (p.Phe1761Leu)
c.4407C>G (p.Phe1469Leu)
c.3756C>G (p.Phe1252Leu)
c.3360C>G (p.Phe1120Leu)
c.3102C>G (p.Phe1034Leu)
c.4380C>G (p.Phe1460Leu)
10g.75030269C>TCA470300885DUSP29,KAT6Bc.5445C>T (p.Phe1815=)
c.4896C>T (p.Phe1632=)
c.4569C>T (p.Phe1523=)
n.577-3675G>A
c.*3622-3675G>A (n.*3622-3675G>A)
c.5283C>T (p.Phe1761=)
c.4407C>T (p.Phe1469=)
c.3756C>T (p.Phe1252=)
c.3360C>T (p.Phe1120=)
c.3102C>T (p.Phe1034=)
c.4380C>T (p.Phe1460=)
 gnomAD v4
10g.75030270A>CCA377301259DUSP29,KAT6Bc.5446A>C (p.Ser1816Arg)
c.4897A>C (p.Ser1633Arg)
c.4570A>C (p.Ser1524Arg)
n.577-3676T>G
c.*3622-3676T>G (n.*3622-3676T>G)
c.5284A>C (p.Ser1762Arg)
c.4408A>C (p.Ser1470Arg)
c.3757A>C (p.Ser1253Arg)
c.3361A>C (p.Ser1121Arg)
c.3103A>C (p.Ser1035Arg)
c.4381A>C (p.Ser1461Arg)
10g.75030270A>GCA377301262DUSP29,KAT6Bc.5446A>G (p.Ser1816Gly)
c.4897A>G (p.Ser1633Gly)
c.4570A>G (p.Ser1524Gly)
n.577-3676T>C
c.*3622-3676T>C (n.*3622-3676T>C)
c.5284A>G (p.Ser1762Gly)
c.4408A>G (p.Ser1470Gly)
c.3757A>G (p.Ser1253Gly)
c.3361A>G (p.Ser1121Gly)
c.3103A>G (p.Ser1035Gly)
c.4381A>G (p.Ser1461Gly)
10g.75030270A>TCA377301257DUSP29,KAT6Bc.5446A>T (p.Ser1816Cys)
c.4897A>T (p.Ser1633Cys)
c.4570A>T (p.Ser1524Cys)
n.577-3676T>A
c.*3622-3676T>A (n.*3622-3676T>A)
c.5284A>T (p.Ser1762Cys)
c.4408A>T (p.Ser1470Cys)
c.3757A>T (p.Ser1253Cys)
c.3361A>T (p.Ser1121Cys)
c.3103A>T (p.Ser1035Cys)
c.4381A>T (p.Ser1461Cys)
10g.75030271G>ACA377301265DUSP29,KAT6Bc.5447G>A (p.Ser1816Asn)
c.4898G>A (p.Ser1633Asn)
c.4571G>A (p.Ser1524Asn)
n.577-3677C>T
c.*3622-3677C>T (n.*3622-3677C>T)
c.5285G>A (p.Ser1762Asn)
c.4409G>A (p.Ser1470Asn)
c.3758G>A (p.Ser1253Asn)
c.3362G>A (p.Ser1121Asn)
c.3104G>A (p.Ser1035Asn)
c.4382G>A (p.Ser1461Asn)
10g.75030271G>CCA377301267DUSP29,KAT6Bc.5447G>C (p.Ser1816Thr)
c.4898G>C (p.Ser1633Thr)
c.4571G>C (p.Ser1524Thr)
n.577-3677C>G
c.*3622-3677C>G (n.*3622-3677C>G)
c.5285G>C (p.Ser1762Thr)
c.4409G>C (p.Ser1470Thr)
c.3758G>C (p.Ser1253Thr)
c.3362G>C (p.Ser1121Thr)
c.3104G>C (p.Ser1035Thr)
c.4382G>C (p.Ser1461Thr)
10g.75030271G>TCA377301268DUSP29,KAT6Bc.5447G>T (p.Ser1816Ile)
c.4898G>T (p.Ser1633Ile)
c.4571G>T (p.Ser1524Ile)
n.577-3677C>A
c.*3622-3677C>A (n.*3622-3677C>A)
c.5285G>T (p.Ser1762Ile)
c.4409G>T (p.Ser1470Ile)
c.3758G>T (p.Ser1253Ile)
c.3362G>T (p.Ser1121Ile)
c.3104G>T (p.Ser1035Ile)
c.4382G>T (p.Ser1461Ile)
10g.75030272C>ACA377301271DUSP29,KAT6Bc.5448C>A (p.Ser1816Arg)
c.4899C>A (p.Ser1633Arg)
c.4572C>A (p.Ser1524Arg)
n.577-3678G>T
c.*3622-3678G>T (n.*3622-3678G>T)
c.5286C>A (p.Ser1762Arg)
c.4410C>A (p.Ser1470Arg)
c.3759C>A (p.Ser1253Arg)
c.3363C>A (p.Ser1121Arg)
c.3105C>A (p.Ser1035Arg)
c.4383C>A (p.Ser1461Arg)
10g.75030272C>GCA377301273DUSP29,KAT6Bc.5448C>G (p.Ser1816Arg)
c.4899C>G (p.Ser1633Arg)
c.4572C>G (p.Ser1524Arg)
n.577-3678G>C
c.*3622-3678G>C (n.*3622-3678G>C)
c.5286C>G (p.Ser1762Arg)
c.4410C>G (p.Ser1470Arg)
c.3759C>G (p.Ser1253Arg)
c.3363C>G (p.Ser1121Arg)
c.3105C>G (p.Ser1035Arg)
c.4383C>G (p.Ser1461Arg)
10g.75030272C>TCA470300886DUSP29,KAT6Bc.5448C>T (p.Ser1816=)
c.4899C>T (p.Ser1633=)
c.4572C>T (p.Ser1524=)
n.577-3678G>A
c.*3622-3678G>A (n.*3622-3678G>A)
c.5286C>T (p.Ser1762=)
c.4410C>T (p.Ser1470=)
c.3759C>T (p.Ser1253=)
c.3363C>T (p.Ser1121=)
c.3105C>T (p.Ser1035=)
c.4383C>T (p.Ser1461=)
 COSMIC
10g.75030273C>ACA377301281DUSP29,KAT6Bc.5449C>A (p.Leu1817Ile)
c.4900C>A (p.Leu1634Ile)
c.4573C>A (p.Leu1525Ile)
n.577-3679G>T
c.*3622-3679G>T (n.*3622-3679G>T)
c.5287C>A (p.Leu1763Ile)
c.4411C>A (p.Leu1471Ile)
c.3760C>A (p.Leu1254Ile)
c.3364C>A (p.Leu1122Ile)
c.3106C>A (p.Leu1036Ile)
c.4384C>A (p.Leu1462Ile)
10g.75030273C>GCA377301279DUSP29,KAT6Bc.5449C>G (p.Leu1817Val)
c.4900C>G (p.Leu1634Val)
c.4573C>G (p.Leu1525Val)
n.577-3679G>C
c.*3622-3679G>C (n.*3622-3679G>C)
c.5287C>G (p.Leu1763Val)
c.4411C>G (p.Leu1471Val)
c.3760C>G (p.Leu1254Val)
c.3364C>G (p.Leu1122Val)
c.3106C>G (p.Leu1036Val)
c.4384C>G (p.Leu1462Val)
 gnomAD v4
10g.75030273C>TCA377301276DUSP29,KAT6Bc.5449C>T (p.Leu1817Phe)
c.4900C>T (p.Leu1634Phe)
c.4573C>T (p.Leu1525Phe)
n.577-3679G>A
c.*3622-3679G>A (n.*3622-3679G>A)
c.5287C>T (p.Leu1763Phe)
c.4411C>T (p.Leu1471Phe)
c.3760C>T (p.Leu1254Phe)
c.3364C>T (p.Leu1122Phe)
c.3106C>T (p.Leu1036Phe)
c.4384C>T (p.Leu1462Phe)
 gnomAD v4
10g.75030274T>ACA377301283DUSP29,KAT6Bc.5450T>A (p.Leu1817His)
c.4901T>A (p.Leu1634His)
c.4574T>A (p.Leu1525His)
n.577-3680A>T
c.*3622-3680A>T (n.*3622-3680A>T)
c.5288T>A (p.Leu1763His)
c.4412T>A (p.Leu1471His)
c.3761T>A (p.Leu1254His)
c.3365T>A (p.Leu1122His)
c.3107T>A (p.Leu1036His)
c.4385T>A (p.Leu1462His)
10g.75030274T>CCA377301285DUSP29,KAT6Bc.5450T>C (p.Leu1817Pro)
c.4901T>C (p.Leu1634Pro)
c.4574T>C (p.Leu1525Pro)
n.577-3680A>G
c.*3622-3680A>G (n.*3622-3680A>G)
c.5288T>C (p.Leu1763Pro)
c.4412T>C (p.Leu1471Pro)
c.3761T>C (p.Leu1254Pro)
c.3365T>C (p.Leu1122Pro)
c.3107T>C (p.Leu1036Pro)
c.4385T>C (p.Leu1462Pro)
10g.75030274T>GCA377301287DUSP29,KAT6Bc.5450T>G (p.Leu1817Arg)
c.4901T>G (p.Leu1634Arg)
c.4574T>G (p.Leu1525Arg)
n.577-3680A>C
c.*3622-3680A>C (n.*3622-3680A>C)
c.5288T>G (p.Leu1763Arg)
c.4412T>G (p.Leu1471Arg)
c.3761T>G (p.Leu1254Arg)
c.3365T>G (p.Leu1122Arg)
c.3107T>G (p.Leu1036Arg)
c.4385T>G (p.Leu1462Arg)
10g.75030275T>ACA470300887DUSP29,KAT6Bc.5451T>A (p.Leu1817=)
c.4902T>A (p.Leu1634=)
c.4575T>A (p.Leu1525=)
n.577-3681A>T
c.*3622-3681A>T (n.*3622-3681A>T)
c.5289T>A (p.Leu1763=)
c.4413T>A (p.Leu1471=)
c.3762T>A (p.Leu1254=)
c.3366T>A (p.Leu1122=)
c.3108T>A (p.Leu1036=)
c.4386T>A (p.Leu1462=)
10g.75030275T>CCA470300888DUSP29,KAT6Bc.5451T>C (p.Leu1817=)
c.4902T>C (p.Leu1634=)
c.4575T>C (p.Leu1525=)
n.577-3681A>G
c.*3622-3681A>G (n.*3622-3681A>G)
c.5289T>C (p.Leu1763=)
c.4413T>C (p.Leu1471=)
c.3762T>C (p.Leu1254=)
c.3366T>C (p.Leu1122=)
c.3108T>C (p.Leu1036=)
c.4386T>C (p.Leu1462=)
10g.75030275T>GCA470300889DUSP29,KAT6Bc.5451T>G (p.Leu1817=)
c.4902T>G (p.Leu1634=)
c.4575T>G (p.Leu1525=)
n.577-3681A>C
c.*3622-3681A>C (n.*3622-3681A>C)
c.5289T>G (p.Leu1763=)
c.4413T>G (p.Leu1471=)
c.3762T>G (p.Leu1254=)
c.3366T>G (p.Leu1122=)
c.3108T>G (p.Leu1036=)
c.4386T>G (p.Leu1462=)
 gnomAD v4
10g.75030276G>ACA377301289DUSP29,KAT6Bc.5452G>A (p.Ala1818Thr)
c.4903G>A (p.Ala1635Thr)
c.4576G>A (p.Ala1526Thr)
n.577-3682C>T
c.*3622-3682C>T (n.*3622-3682C>T)
c.5290G>A (p.Ala1764Thr)
c.4414G>A (p.Ala1472Thr)
c.3763G>A (p.Ala1255Thr)
c.3367G>A (p.Ala1123Thr)
c.3109G>A (p.Ala1037Thr)
c.4387G>A (p.Ala1463Thr)
10g.75030276G>CCA377301291DUSP29,KAT6Bc.5452G>C (p.Ala1818Pro)
c.4903G>C (p.Ala1635Pro)
c.4576G>C (p.Ala1526Pro)
n.577-3682C>G
c.*3622-3682C>G (n.*3622-3682C>G)
c.5290G>C (p.Ala1764Pro)
c.4414G>C (p.Ala1472Pro)
c.3763G>C (p.Ala1255Pro)
c.3367G>C (p.Ala1123Pro)
c.3109G>C (p.Ala1037Pro)
c.4387G>C (p.Ala1463Pro)
10g.75030276G>TCA377301293DUSP29,KAT6Bc.5452G>T (p.Ala1818Ser)
c.4903G>T (p.Ala1635Ser)
c.4576G>T (p.Ala1526Ser)
n.577-3682C>A
c.*3622-3682C>A (n.*3622-3682C>A)
c.5290G>T (p.Ala1764Ser)
c.4414G>T (p.Ala1472Ser)
c.3763G>T (p.Ala1255Ser)
c.3367G>T (p.Ala1123Ser)
c.3109G>T (p.Ala1037Ser)
c.4387G>T (p.Ala1463Ser)
10g.75030277C>ACA377301296DUSP29,KAT6Bc.5453C>A (p.Ala1818Asp)
c.4904C>A (p.Ala1635Asp)
c.4577C>A (p.Ala1526Asp)
n.577-3683G>T
c.*3622-3683G>T (n.*3622-3683G>T)
c.5291C>A (p.Ala1764Asp)
c.4415C>A (p.Ala1472Asp)
c.3764C>A (p.Ala1255Asp)
c.3368C>A (p.Ala1123Asp)
c.3110C>A (p.Ala1037Asp)
c.4388C>A (p.Ala1463Asp)
10g.75030277C>GCA377301299DUSP29,KAT6Bc.5453C>G (p.Ala1818Gly)
c.4904C>G (p.Ala1635Gly)
c.4577C>G (p.Ala1526Gly)
n.577-3683G>C
c.*3622-3683G>C (n.*3622-3683G>C)
c.5291C>G (p.Ala1764Gly)
c.4415C>G (p.Ala1472Gly)
c.3764C>G (p.Ala1255Gly)
c.3368C>G (p.Ala1123Gly)
c.3110C>G (p.Ala1037Gly)
c.4388C>G (p.Ala1463Gly)
10g.75030277C>TCA377301298DUSP29,KAT6Bc.5453C>T (p.Ala1818Val)
c.4904C>T (p.Ala1635Val)
c.4577C>T (p.Ala1526Val)
n.577-3683G>A
c.*3622-3683G>A (n.*3622-3683G>A)
c.5291C>T (p.Ala1764Val)
c.4415C>T (p.Ala1472Val)
c.3764C>T (p.Ala1255Val)
c.3368C>T (p.Ala1123Val)
c.3110C>T (p.Ala1037Val)
c.4388C>T (p.Ala1463Val)
10g.75030278C>ACA470300890DUSP29,KAT6Bc.5454C>A (p.Ala1818=)
c.4905C>A (p.Ala1635=)
c.4578C>A (p.Ala1526=)
n.577-3684G>T
c.*3622-3684G>T (n.*3622-3684G>T)
c.5292C>A (p.Ala1764=)
c.4416C>A (p.Ala1472=)
c.3765C>A (p.Ala1255=)
c.3369C>A (p.Ala1123=)
c.3111C>A (p.Ala1037=)
c.4389C>A (p.Ala1463=)
10g.75030278C=CA1920307015DUSP29,KAT6Bc.5454C= (p.Ala1818=)
c.4905C= (p.Ala1635=)
c.4578C= (p.Ala1526=)
n.577-3684G=
c.*3622-3684G= (n.*3622-3684G=)
c.5292C= (p.Ala1764=)
c.4416C= (p.Ala1472=)
c.3765C= (p.Ala1255=)
c.3369C= (p.Ala1123=)
c.3111C= (p.Ala1037=)
c.4389C= (p.Ala1463=)
10g.75030278C>GCA209710660DUSP29,KAT6Bc.5454C>G (p.Ala1818=)
c.4905C>G (p.Ala1635=)
c.4578C>G (p.Ala1526=)
n.577-3684G>C
c.*3622-3684G>C (n.*3622-3684G>C)
c.5292C>G (p.Ala1764=)
c.4416C>G (p.Ala1472=)
c.3765C>G (p.Ala1255=)
c.3369C>G (p.Ala1123=)
c.3111C>G (p.Ala1037=)
c.4389C>G (p.Ala1463=)
 ClinVar dbSNP
10g.75030278C>TCA470300891DUSP29,KAT6Bc.5454C>T (p.Ala1818=)
c.4905C>T (p.Ala1635=)
c.4578C>T (p.Ala1526=)
n.577-3684G>A
c.*3622-3684G>A (n.*3622-3684G>A)
c.5292C>T (p.Ala1764=)
c.4416C>T (p.Ala1472=)
c.3765C>T (p.Ala1255=)
c.3369C>T (p.Ala1123=)
c.3111C>T (p.Ala1037=)
c.4389C>T (p.Ala1463=)
10g.75030279A>CCA377301302DUSP29,KAT6Bc.5455A>C (p.Lys1819Gln)
c.4906A>C (p.Lys1636Gln)
c.4579A>C (p.Lys1527Gln)
n.577-3685T>G
c.*3622-3685T>G (n.*3622-3685T>G)
c.5293A>C (p.Lys1765Gln)
c.4417A>C (p.Lys1473Gln)
c.3766A>C (p.Lys1256Gln)
c.3370A>C (p.Lys1124Gln)
c.3112A>C (p.Lys1038Gln)
c.4390A>C (p.Lys1464Gln)
10g.75030279A>GCA377301304DUSP29,KAT6Bc.5455A>G (p.Lys1819Glu)
c.4906A>G (p.Lys1636Glu)
c.4579A>G (p.Lys1527Glu)
n.577-3685T>C
c.*3622-3685T>C (n.*3622-3685T>C)
c.5293A>G (p.Lys1765Glu)
c.4417A>G (p.Lys1473Glu)
c.3766A>G (p.Lys1256Glu)
c.3370A>G (p.Lys1124Glu)
c.3112A>G (p.Lys1038Glu)
c.4390A>G (p.Lys1464Glu)
10g.75030279A>TCA377301305DUSP29,KAT6Bc.5455A>T (p.Lys1819Ter)
c.4906A>T (p.Lys1636Ter)
c.4579A>T (p.Lys1527Ter)
n.577-3685T>A
c.*3622-3685T>A (n.*3622-3685T>A)
c.5293A>T (p.Lys1765Ter)
c.4417A>T (p.Lys1473Ter)
c.3766A>T (p.Lys1256Ter)
c.3370A>T (p.Lys1124Ter)
c.3112A>T (p.Lys1038Ter)
c.4390A>T (p.Lys1464Ter)
10g.75030280A=CA1920307016DUSP29,KAT6Bc.5456A= (p.Lys1819=)
c.4907A= (p.Lys1636=)
c.4580A= (p.Lys1527=)
n.577-3686T=
c.*3622-3686T= (n.*3622-3686T=)
c.5294A= (p.Lys1765=)
c.4418A= (p.Lys1473=)
c.3767A= (p.Lys1256=)
c.3371A= (p.Lys1124=)
c.3113A= (p.Lys1038=)
c.4391A= (p.Lys1464=)
10g.75030280A>CCA377301306DUSP29,KAT6Bc.5456A>C (p.Lys1819Thr)
c.4907A>C (p.Lys1636Thr)
c.4580A>C (p.Lys1527Thr)
n.577-3686T>G
c.*3622-3686T>G (n.*3622-3686T>G)
c.5294A>C (p.Lys1765Thr)
c.4418A>C (p.Lys1473Thr)
c.3767A>C (p.Lys1256Thr)
c.3371A>C (p.Lys1124Thr)
c.3113A>C (p.Lys1038Thr)
c.4391A>C (p.Lys1464Thr)
10g.75030280A>GCA377301307DUSP29,KAT6Bc.5456A>G (p.Lys1819Arg)
c.4907A>G (p.Lys1636Arg)
c.4580A>G (p.Lys1527Arg)
n.577-3686T>C
c.*3622-3686T>C (n.*3622-3686T>C)
c.5294A>G (p.Lys1765Arg)
c.4418A>G (p.Lys1473Arg)
c.3767A>G (p.Lys1256Arg)
c.3371A>G (p.Lys1124Arg)
c.3113A>G (p.Lys1038Arg)
c.4391A>G (p.Lys1464Arg)
 dbSNP gnomAD v3 gnomAD v4
10g.75030280A>TCA377301308DUSP29,KAT6Bc.5456A>T (p.Lys1819Ile)
c.4907A>T (p.Lys1636Ile)
c.4580A>T (p.Lys1527Ile)
n.577-3686T>A
c.*3622-3686T>A (n.*3622-3686T>A)
c.5294A>T (p.Lys1765Ile)
c.4418A>T (p.Lys1473Ile)
c.3767A>T (p.Lys1256Ile)
c.3371A>T (p.Lys1124Ile)
c.3113A>T (p.Lys1038Ile)
c.4391A>T (p.Lys1464Ile)
10g.75030281A>CCA377301309DUSP29,KAT6Bc.5457A>C (p.Lys1819Asn)
c.4908A>C (p.Lys1636Asn)
c.4581A>C (p.Lys1527Asn)
n.577-3687T>G
c.*3622-3687T>G (n.*3622-3687T>G)
c.5295A>C (p.Lys1765Asn)
c.4419A>C (p.Lys1473Asn)
c.3768A>C (p.Lys1256Asn)
c.3372A>C (p.Lys1124Asn)
c.3114A>C (p.Lys1038Asn)
c.4392A>C (p.Lys1464Asn)
10g.75030281A>GCA470300892DUSP29,KAT6Bc.5457A>G (p.Lys1819=)
c.4908A>G (p.Lys1636=)
c.4581A>G (p.Lys1527=)
n.577-3687T>C
c.*3622-3687T>C (n.*3622-3687T>C)
c.5295A>G (p.Lys1765=)
c.4419A>G (p.Lys1473=)
c.3768A>G (p.Lys1256=)
c.3372A>G (p.Lys1124=)
c.3114A>G (p.Lys1038=)
c.4392A>G (p.Lys1464=)
10g.75030281A>TCA377301310DUSP29,KAT6Bc.5457A>T (p.Lys1819Asn)
c.4908A>T (p.Lys1636Asn)
c.4581A>T (p.Lys1527Asn)
n.577-3687T>A
c.*3622-3687T>A (n.*3622-3687T>A)
c.5295A>T (p.Lys1765Asn)
c.4419A>T (p.Lys1473Asn)
c.3768A>T (p.Lys1256Asn)
c.3372A>T (p.Lys1124Asn)
c.3114A>T (p.Lys1038Asn)
c.4392A>T (p.Lys1464Asn)
10g.75030282C>ACA377301311DUSP29,KAT6Bc.5458C>A (p.Leu1820Met)
c.4909C>A (p.Leu1637Met)
c.4582C>A (p.Leu1528Met)
n.577-3688G>T
c.*3622-3688G>T (n.*3622-3688G>T)
c.5296C>A (p.Leu1766Met)
c.4420C>A (p.Leu1474Met)
c.3769C>A (p.Leu1257Met)
c.3373C>A (p.Leu1125Met)
c.3115C>A (p.Leu1039Met)
c.4393C>A (p.Leu1465Met)
 COSMIC
10g.75030282C>GCA377301312DUSP29,KAT6Bc.5458C>G (p.Leu1820Val)
c.4909C>G (p.Leu1637Val)
c.4582C>G (p.Leu1528Val)
n.577-3688G>C
c.*3622-3688G>C (n.*3622-3688G>C)
c.5296C>G (p.Leu1766Val)
c.4420C>G (p.Leu1474Val)
c.3769C>G (p.Leu1257Val)
c.3373C>G (p.Leu1125Val)
c.3115C>G (p.Leu1039Val)
c.4393C>G (p.Leu1465Val)
10g.75030282C>TCA470300893DUSP29,KAT6Bc.5458C>T (p.Leu1820=)
c.4909C>T (p.Leu1637=)
c.4582C>T (p.Leu1528=)
n.577-3688G>A
c.*3622-3688G>A (n.*3622-3688G>A)
c.5296C>T (p.Leu1766=)
c.4420C>T (p.Leu1474=)
c.3769C>T (p.Leu1257=)
c.3373C>T (p.Leu1125=)
c.3115C>T (p.Leu1039=)
c.4393C>T (p.Leu1465=)
10g.75030283T>ACA377301313DUSP29,KAT6Bc.5459T>A (p.Leu1820Gln)
c.4910T>A (p.Leu1637Gln)
c.4583T>A (p.Leu1528Gln)
n.577-3689A>T
c.*3622-3689A>T (n.*3622-3689A>T)
c.5297T>A (p.Leu1766Gln)
c.4421T>A (p.Leu1474Gln)
c.3770T>A (p.Leu1257Gln)
c.3374T>A (p.Leu1125Gln)
c.3116T>A (p.Leu1039Gln)
c.4394T>A (p.Leu1465Gln)
10g.75030283T>CCA377301314DUSP29,KAT6Bc.5459T>C (p.Leu1820Pro)
c.4910T>C (p.Leu1637Pro)
c.4583T>C (p.Leu1528Pro)
n.577-3689A>G
c.*3622-3689A>G (n.*3622-3689A>G)
c.5297T>C (p.Leu1766Pro)
c.4421T>C (p.Leu1474Pro)
c.3770T>C (p.Leu1257Pro)
c.3374T>C (p.Leu1125Pro)
c.3116T>C (p.Leu1039Pro)
c.4394T>C (p.Leu1465Pro)
10g.75030283T>GCA377301315DUSP29,KAT6Bc.5459T>G (p.Leu1820Arg)
c.4910T>G (p.Leu1637Arg)
c.4583T>G (p.Leu1528Arg)
n.577-3689A>C
c.*3622-3689A>C (n.*3622-3689A>C)
c.5297T>G (p.Leu1766Arg)
c.4421T>G (p.Leu1474Arg)
c.3770T>G (p.Leu1257Arg)
c.3374T>G (p.Leu1125Arg)
c.3116T>G (p.Leu1039Arg)
c.4394T>G (p.Leu1465Arg)
10g.75030284G>ACA470300894DUSP29,KAT6Bc.5460G>A (p.Leu1820=)
c.4911G>A (p.Leu1637=)
c.4584G>A (p.Leu1528=)
n.577-3690C>T
c.*3622-3690C>T (n.*3622-3690C>T)
c.5298G>A (p.Leu1766=)
c.4422G>A (p.Leu1474=)
c.3771G>A (p.Leu1257=)
c.3375G>A (p.Leu1125=)
c.3117G>A (p.Leu1039=)
c.4395G>A (p.Leu1465=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.75030284G>CCA470300895DUSP29,KAT6Bc.5460G>C (p.Leu1820=)
c.4911G>C (p.Leu1637=)
c.4584G>C (p.Leu1528=)
n.577-3690C>G
c.*3622-3690C>G (n.*3622-3690C>G)
c.5298G>C (p.Leu1766=)
c.4422G>C (p.Leu1474=)
c.3771G>C (p.Leu1257=)
c.3375G>C (p.Leu1125=)
c.3117G>C (p.Leu1039=)
c.4395G>C (p.Leu1465=)
10g.75030284G=CA1920307017DUSP29,KAT6Bc.5460G= (p.Leu1820=)
c.4911G= (p.Leu1637=)
c.4584G= (p.Leu1528=)
n.577-3690C=
c.*3622-3690C= (n.*3622-3690C=)
c.5298G= (p.Leu1766=)
c.4422G= (p.Leu1474=)
c.3771G= (p.Leu1257=)
c.3375G= (p.Leu1125=)
c.3117G= (p.Leu1039=)
c.4395G= (p.Leu1465=)
10g.75030284G>TCA470300896DUSP29,KAT6Bc.5460G>T (p.Leu1820=)
c.4911G>T (p.Leu1637=)
c.4584G>T (p.Leu1528=)
n.577-3690C>A
c.*3622-3690C>A (n.*3622-3690C>A)
c.5298G>T (p.Leu1766=)
c.4422G>T (p.Leu1474=)
c.3771G>T (p.Leu1257=)
c.3375G>T (p.Leu1125=)
c.3117G>T (p.Leu1039=)
c.4395G>T (p.Leu1465=)
10g.75030285C>ACA377301318DUSP29,KAT6Bc.5461C>A (p.Gln1821Lys)
c.4912C>A (p.Gln1638Lys)
c.4585C>A (p.Gln1529Lys)
n.577-3691G>T
c.*3622-3691G>T (n.*3622-3691G>T)
c.5299C>A (p.Gln1767Lys)
c.4423C>A (p.Gln1475Lys)
c.3772C>A (p.Gln1258Lys)
c.3376C>A (p.Gln1126Lys)
c.3118C>A (p.Gln1040Lys)
c.4396C>A (p.Gln1466Lys)
10g.75030285C=CA1920307018DUSP29,KAT6Bc.5461C= (p.Gln1821=)
c.4912C= (p.Gln1638=)
c.4585C= (p.Gln1529=)
n.577-3691G=
c.*3622-3691G= (n.*3622-3691G=)
c.5299C= (p.Gln1767=)
c.4423C= (p.Gln1475=)
c.3772C= (p.Gln1258=)
c.3376C= (p.Gln1126=)
c.3118C= (p.Gln1040=)
c.4396C= (p.Gln1466=)
10g.75030285C>GCA377301317DUSP29,KAT6Bc.5461C>G (p.Gln1821Glu)
c.4912C>G (p.Gln1638Glu)
c.4585C>G (p.Gln1529Glu)
n.577-3691G>C
c.*3622-3691G>C (n.*3622-3691G>C)
c.5299C>G (p.Gln1767Glu)
c.4423C>G (p.Gln1475Glu)
c.3772C>G (p.Gln1258Glu)
c.3376C>G (p.Gln1126Glu)
c.3118C>G (p.Gln1040Glu)
c.4396C>G (p.Gln1466Glu)
 dbSNP gnomAD v2 gnomAD v4
10g.75030285C>TCA377301316DUSP29,KAT6Bc.5461C>T (p.Gln1821Ter)
c.4912C>T (p.Gln1638Ter)
c.4585C>T (p.Gln1529Ter)
n.577-3691G>A
c.*3622-3691G>A (n.*3622-3691G>A)
c.5299C>T (p.Gln1767Ter)
c.4423C>T (p.Gln1475Ter)
c.3772C>T (p.Gln1258Ter)
c.3376C>T (p.Gln1126Ter)
c.3118C>T (p.Gln1040Ter)
c.4396C>T (p.Gln1466Ter)
 ClinVar
10g.75030286A>CCA377301319DUSP29,KAT6Bc.5462A>C (p.Gln1821Pro)
c.4913A>C (p.Gln1638Pro)
c.4586A>C (p.Gln1529Pro)
n.577-3692T>G
c.*3622-3692T>G (n.*3622-3692T>G)
c.5300A>C (p.Gln1767Pro)
c.4424A>C (p.Gln1475Pro)
c.3773A>C (p.Gln1258Pro)
c.3377A>C (p.Gln1126Pro)
c.3119A>C (p.Gln1040Pro)
c.4397A>C (p.Gln1466Pro)
10g.75030286A>GCA377301321DUSP29,KAT6Bc.5462A>G (p.Gln1821Arg)
c.4913A>G (p.Gln1638Arg)
c.4586A>G (p.Gln1529Arg)
n.577-3692T>C
c.*3622-3692T>C (n.*3622-3692T>C)
c.5300A>G (p.Gln1767Arg)
c.4424A>G (p.Gln1475Arg)
c.3773A>G (p.Gln1258Arg)
c.3377A>G (p.Gln1126Arg)
c.3119A>G (p.Gln1040Arg)
c.4397A>G (p.Gln1466Arg)
 gnomAD v4
10g.75030286A>TCA377301320DUSP29,KAT6Bc.5462A>T (p.Gln1821Leu)
c.4913A>T (p.Gln1638Leu)
c.4586A>T (p.Gln1529Leu)
n.577-3692T>A
c.*3622-3692T>A (n.*3622-3692T>A)
c.5300A>T (p.Gln1767Leu)
c.4424A>T (p.Gln1475Leu)
c.3773A>T (p.Gln1258Leu)
c.3377A>T (p.Gln1126Leu)
c.3119A>T (p.Gln1040Leu)
c.4397A>T (p.Gln1466Leu)
10g.75030287G>ACA470300897DUSP29,KAT6Bc.5463G>A (p.Gln1821=)
c.4914G>A (p.Gln1638=)
c.4587G>A (p.Gln1529=)
n.577-3693C>T
c.*3622-3693C>T (n.*3622-3693C>T)
c.5301G>A (p.Gln1767=)
c.4425G>A (p.Gln1475=)
c.3774G>A (p.Gln1258=)
c.3378G>A (p.Gln1126=)
c.3120G>A (p.Gln1040=)
c.4398G>A (p.Gln1466=)
10g.75030287G>CCA377301322DUSP29,KAT6Bc.5463G>C (p.Gln1821His)
c.4914G>C (p.Gln1638His)
c.4587G>C (p.Gln1529His)
n.577-3693C>G
c.*3622-3693C>G (n.*3622-3693C>G)
c.5301G>C (p.Gln1767His)
c.4425G>C (p.Gln1475His)
c.3774G>C (p.Gln1258His)
c.3378G>C (p.Gln1126His)
c.3120G>C (p.Gln1040His)
c.4398G>C (p.Gln1466His)
10g.75030287G>TCA377301323DUSP29,KAT6Bc.5463G>T (p.Gln1821His)
c.4914G>T (p.Gln1638His)
c.4587G>T (p.Gln1529His)
n.577-3693C>A
c.*3622-3693C>A (n.*3622-3693C>A)
c.5301G>T (p.Gln1767His)
c.4425G>T (p.Gln1475His)
c.3774G>T (p.Gln1258His)
c.3378G>T (p.Gln1126His)
c.3120G>T (p.Gln1040His)
c.4398G>T (p.Gln1466His)
10g.75030288C>ACA377301325DUSP29,KAT6Bc.5464C>A (p.Gln1822Lys)
c.4915C>A (p.Gln1639Lys)
c.4588C>A (p.Gln1530Lys)
n.577-3694G>T
c.*3622-3694G>T (n.*3622-3694G>T)
c.5302C>A (p.Gln1768Lys)
c.4426C>A (p.Gln1476Lys)
c.3775C>A (p.Gln1259Lys)
c.3379C>A (p.Gln1127Lys)
c.3121C>A (p.Gln1041Lys)
c.4399C>A (p.Gln1467Lys)
10g.75030288C>GCA377301326DUSP29,KAT6Bc.5464C>G (p.Gln1822Glu)
c.4915C>G (p.Gln1639Glu)
c.4588C>G (p.Gln1530Glu)
n.577-3694G>C
c.*3622-3694G>C (n.*3622-3694G>C)
c.5302C>G (p.Gln1768Glu)
c.4426C>G (p.Gln1476Glu)
c.3775C>G (p.Gln1259Glu)
c.3379C>G (p.Gln1127Glu)
c.3121C>G (p.Gln1041Glu)
c.4399C>G (p.Gln1467Glu)
10g.75030288C>TCA377301327DUSP29,KAT6Bc.5464C>T (p.Gln1822Ter)
c.4915C>T (p.Gln1639Ter)
c.4588C>T (p.Gln1530Ter)
n.577-3694G>A
c.*3622-3694G>A (n.*3622-3694G>A)
c.5302C>T (p.Gln1768Ter)
c.4426C>T (p.Gln1476Ter)
c.3775C>T (p.Gln1259Ter)
c.3379C>T (p.Gln1127Ter)
c.3121C>T (p.Gln1041Ter)
c.4399C>T (p.Gln1467Ter)
10g.75030289A>CCA377301328DUSP29,KAT6Bc.5465A>C (p.Gln1822Pro)
c.4916A>C (p.Gln1639Pro)
c.4589A>C (p.Gln1530Pro)
n.577-3695T>G
c.*3622-3695T>G (n.*3622-3695T>G)
c.5303A>C (p.Gln1768Pro)
c.4427A>C (p.Gln1476Pro)
c.3776A>C (p.Gln1259Pro)
c.3380A>C (p.Gln1127Pro)
c.3122A>C (p.Gln1041Pro)
c.4400A>C (p.Gln1467Pro)
10g.75030289A>GCA377301329DUSP29,KAT6Bc.5465A>G (p.Gln1822Arg)
c.4916A>G (p.Gln1639Arg)
c.4589A>G (p.Gln1530Arg)
n.577-3695T>C
c.*3622-3695T>C (n.*3622-3695T>C)
c.5303A>G (p.Gln1768Arg)
c.4427A>G (p.Gln1476Arg)
c.3776A>G (p.Gln1259Arg)
c.3380A>G (p.Gln1127Arg)
c.3122A>G (p.Gln1041Arg)
c.4400A>G (p.Gln1467Arg)
 gnomAD v4
10g.75030289A>TCA377301330DUSP29,KAT6Bc.5465A>T (p.Gln1822Leu)
c.4916A>T (p.Gln1639Leu)
c.4589A>T (p.Gln1530Leu)
n.577-3695T>A
c.*3622-3695T>A (n.*3622-3695T>A)
c.5303A>T (p.Gln1768Leu)
c.4427A>T (p.Gln1476Leu)
c.3776A>T (p.Gln1259Leu)
c.3380A>T (p.Gln1127Leu)
c.3122A>T (p.Gln1041Leu)
c.4400A>T (p.Gln1467Leu)
10g.75030290G>ACA470300898DUSP29,KAT6Bc.5466G>A (p.Gln1822=)
c.4917G>A (p.Gln1639=)
c.4590G>A (p.Gln1530=)
n.577-3696C>T
c.*3622-3696C>T (n.*3622-3696C>T)
c.5304G>A (p.Gln1768=)
c.4428G>A (p.Gln1476=)
c.3777G>A (p.Gln1259=)
c.3381G>A (p.Gln1127=)
c.3123G>A (p.Gln1041=)
c.4401G>A (p.Gln1467=)
 dbSNP gnomAD v2 gnomAD v4
10g.75030290G>CCA377301331DUSP29,KAT6Bc.5466G>C (p.Gln1822His)
c.4917G>C (p.Gln1639His)
c.4590G>C (p.Gln1530His)
n.577-3696C>G
c.*3622-3696C>G (n.*3622-3696C>G)
c.5304G>C (p.Gln1768His)
c.4428G>C (p.Gln1476His)
c.3777G>C (p.Gln1259His)
c.3381G>C (p.Gln1127His)
c.3123G>C (p.Gln1041His)
c.4401G>C (p.Gln1467His)
10g.75030290G=CA1920307019DUSP29,KAT6Bc.5466G= (p.Gln1822=)
c.4917G= (p.Gln1639=)
c.4590G= (p.Gln1530=)
n.577-3696C=
c.*3622-3696C= (n.*3622-3696C=)
c.5304G= (p.Gln1768=)
c.4428G= (p.Gln1476=)
c.3777G= (p.Gln1259=)
c.3381G= (p.Gln1127=)
c.3123G= (p.Gln1041=)
c.4401G= (p.Gln1467=)
10g.75030290G>TCA377301332DUSP29,KAT6Bc.5466G>T (p.Gln1822His)
c.4917G>T (p.Gln1639His)
c.4590G>T (p.Gln1530His)
n.577-3696C>A
c.*3622-3696C>A (n.*3622-3696C>A)
c.5304G>T (p.Gln1768His)
c.4428G>T (p.Gln1476His)
c.3777G>T (p.Gln1259His)
c.3381G>T (p.Gln1127His)
c.3123G>T (p.Gln1041His)
c.4401G>T (p.Gln1467His)
10g.75030291T>ACA377301333DUSP29,KAT6Bc.5467T>A (p.Leu1823Ile)
c.4918T>A (p.Leu1640Ile)
c.4591T>A (p.Leu1531Ile)
n.577-3697A>T
c.*3622-3697A>T (n.*3622-3697A>T)
c.5305T>A (p.Leu1769Ile)
c.4429T>A (p.Leu1477Ile)
c.3778T>A (p.Leu1260Ile)
c.3382T>A (p.Leu1128Ile)
c.3124T>A (p.Leu1042Ile)
c.4402T>A (p.Leu1468Ile)
10g.75030291T>CCA470300899DUSP29,KAT6Bc.5467T>C (p.Leu1823=)
c.4918T>C (p.Leu1640=)
c.4591T>C (p.Leu1531=)
n.577-3697A>G
c.*3622-3697A>G (n.*3622-3697A>G)
c.5305T>C (p.Leu1769=)
c.4429T>C (p.Leu1477=)
c.3778T>C (p.Leu1260=)
c.3382T>C (p.Leu1128=)
c.3124T>C (p.Leu1042=)
c.4402T>C (p.Leu1468=)
10g.75030291T>GCA377301334DUSP29,KAT6Bc.5467T>G (p.Leu1823Val)
c.4918T>G (p.Leu1640Val)
c.4591T>G (p.Leu1531Val)
n.577-3697A>C
c.*3622-3697A>C (n.*3622-3697A>C)
c.5305T>G (p.Leu1769Val)
c.4429T>G (p.Leu1477Val)
c.3778T>G (p.Leu1260Val)
c.3382T>G (p.Leu1128Val)
c.3124T>G (p.Leu1042Val)
c.4402T>G (p.Leu1468Val)
10g.75030292T>ACA377301336DUSP29,KAT6Bc.5468T>A (p.Leu1823Ter)
c.4919T>A (p.Leu1640Ter)
c.4592T>A (p.Leu1531Ter)
n.577-3698A>T
c.*3622-3698A>T (n.*3622-3698A>T)
c.5306T>A (p.Leu1769Ter)
c.4430T>A (p.Leu1477Ter)
c.3779T>A (p.Leu1260Ter)
c.3383T>A (p.Leu1128Ter)
c.3125T>A (p.Leu1042Ter)
c.4403T>A (p.Leu1468Ter)
10g.75030292T>CCA377301337DUSP29,KAT6Bc.5468T>C (p.Leu1823Ser)
c.4919T>C (p.Leu1640Ser)
c.4592T>C (p.Leu1531Ser)
n.577-3698A>G
c.*3622-3698A>G (n.*3622-3698A>G)
c.5306T>C (p.Leu1769Ser)
c.4430T>C (p.Leu1477Ser)
c.3779T>C (p.Leu1260Ser)
c.3383T>C (p.Leu1128Ser)
c.3125T>C (p.Leu1042Ser)
c.4403T>C (p.Leu1468Ser)
10g.75030292T>GCA377301335DUSP29,KAT6Bc.5468T>G (p.Leu1823Ter)
c.4919T>G (p.Leu1640Ter)
c.4592T>G (p.Leu1531Ter)
n.577-3698A>C
c.*3622-3698A>C (n.*3622-3698A>C)
c.5306T>G (p.Leu1769Ter)
c.4430T>G (p.Leu1477Ter)
c.3779T>G (p.Leu1260Ter)
c.3383T>G (p.Leu1128Ter)
c.3125T>G (p.Leu1042Ter)
c.4403T>G (p.Leu1468Ter)
10g.75030293A>CCA377301338DUSP29,KAT6Bc.5469A>C (p.Leu1823Phe)
c.4920A>C (p.Leu1640Phe)
c.4593A>C (p.Leu1531Phe)
n.577-3699T>G
c.*3622-3699T>G (n.*3622-3699T>G)
c.5307A>C (p.Leu1769Phe)
c.4431A>C (p.Leu1477Phe)
c.3780A>C (p.Leu1260Phe)
c.3384A>C (p.Leu1128Phe)
c.3126A>C (p.Leu1042Phe)
c.4404A>C (p.Leu1468Phe)
10g.75030293A>GCA470300900DUSP29,KAT6Bc.5469A>G (p.Leu1823=)
c.4920A>G (p.Leu1640=)
c.4593A>G (p.Leu1531=)
n.577-3699T>C
c.*3622-3699T>C (n.*3622-3699T>C)
c.5307A>G (p.Leu1769=)
c.4431A>G (p.Leu1477=)
c.3780A>G (p.Leu1260=)
c.3384A>G (p.Leu1128=)
c.3126A>G (p.Leu1042=)
c.4404A>G (p.Leu1468=)
 ClinVar dbSNP
10g.75030293A>TCA377301339DUSP29,KAT6Bc.5469A>T (p.Leu1823Phe)
c.4920A>T (p.Leu1640Phe)
c.4593A>T (p.Leu1531Phe)
n.577-3699T>A
c.*3622-3699T>A (n.*3622-3699T>A)
c.5307A>T (p.Leu1769Phe)
c.4431A>T (p.Leu1477Phe)
c.3780A>T (p.Leu1260Phe)
c.3384A>T (p.Leu1128Phe)
c.3126A>T (p.Leu1042Phe)
c.4404A>T (p.Leu1468Phe)
10g.75030294A=CA1920307020DUSP29,KAT6Bc.5470A= (p.Thr1824=)
c.4921A= (p.Thr1641=)
c.4594A= (p.Thr1532=)
n.577-3700T=
c.*3622-3700T= (n.*3622-3700T=)
c.5308A= (p.Thr1770=)
c.4432A= (p.Thr1478=)
c.3781A= (p.Thr1261=)
c.3385A= (p.Thr1129=)
c.3127A= (p.Thr1043=)
c.4405A= (p.Thr1469=)
10g.75030294A>CCA377301340DUSP29,KAT6Bc.5470A>C (p.Thr1824Pro)
c.4921A>C (p.Thr1641Pro)
c.4594A>C (p.Thr1532Pro)
n.577-3700T>G
c.*3622-3700T>G (n.*3622-3700T>G)
c.5308A>C (p.Thr1770Pro)
c.4432A>C (p.Thr1478Pro)
c.3781A>C (p.Thr1261Pro)
c.3385A>C (p.Thr1129Pro)
c.3127A>C (p.Thr1043Pro)
c.4405A>C (p.Thr1469Pro)
10g.75030294A>GCA377301341DUSP29,KAT6Bc.5470A>G (p.Thr1824Ala)
c.4921A>G (p.Thr1641Ala)
c.4594A>G (p.Thr1532Ala)
n.577-3700T>C
c.*3622-3700T>C (n.*3622-3700T>C)
c.5308A>G (p.Thr1770Ala)
c.4432A>G (p.Thr1478Ala)
c.3781A>G (p.Thr1261Ala)
c.3385A>G (p.Thr1129Ala)
c.3127A>G (p.Thr1043Ala)
c.4405A>G (p.Thr1469Ala)
 dbSNP gnomAD v3 gnomAD v4
10g.75030294A>TCA377301342DUSP29,KAT6Bc.5470A>T (p.Thr1824Ser)
c.4921A>T (p.Thr1641Ser)
c.4594A>T (p.Thr1532Ser)
n.577-3700T>A
c.*3622-3700T>A (n.*3622-3700T>A)
c.5308A>T (p.Thr1770Ser)
c.4432A>T (p.Thr1478Ser)
c.3781A>T (p.Thr1261Ser)
c.3385A>T (p.Thr1129Ser)
c.3127A>T (p.Thr1043Ser)
c.4405A>T (p.Thr1469Ser)
10g.75030295C>ACA377301344DUSP29,KAT6Bc.5471C>A (p.Thr1824Asn)
c.4922C>A (p.Thr1641Asn)
c.4595C>A (p.Thr1532Asn)
n.577-3701G>T
c.*3622-3701G>T (n.*3622-3701G>T)
c.5309C>A (p.Thr1770Asn)
c.4433C>A (p.Thr1478Asn)
c.3782C>A (p.Thr1261Asn)
c.3386C>A (p.Thr1129Asn)
c.3128C>A (p.Thr1043Asn)
c.4406C>A (p.Thr1469Asn)
10g.75030295C=CA1920307021DUSP29,KAT6Bc.5471C= (p.Thr1824=)
c.4922C= (p.Thr1641=)
c.4595C= (p.Thr1532=)
n.577-3701G=
c.*3622-3701G= (n.*3622-3701G=)
c.5309C= (p.Thr1770=)
c.4433C= (p.Thr1478=)
c.3782C= (p.Thr1261=)
c.3386C= (p.Thr1129=)
c.3128C= (p.Thr1043=)
c.4406C= (p.Thr1469=)
10g.75030295C>GCA209710668DUSP29,KAT6Bc.5471C>G (p.Thr1824Ser)
c.4922C>G (p.Thr1641Ser)
c.4595C>G (p.Thr1532Ser)
n.577-3701G>C
c.*3622-3701G>C (n.*3622-3701G>C)
c.5309C>G (p.Thr1770Ser)
c.4433C>G (p.Thr1478Ser)
c.3782C>G (p.Thr1261Ser)
c.3386C>G (p.Thr1129Ser)
c.3128C>G (p.Thr1043Ser)
c.4406C>G (p.Thr1469Ser)
 dbSNP gnomAD v4 COSMIC
10g.75030295C>TCA377301343DUSP29,KAT6Bc.5471C>T (p.Thr1824Ile)
c.4922C>T (p.Thr1641Ile)
c.4595C>T (p.Thr1532Ile)
n.577-3701G>A
c.*3622-3701G>A (n.*3622-3701G>A)
c.5309C>T (p.Thr1770Ile)
c.4433C>T (p.Thr1478Ile)
c.3782C>T (p.Thr1261Ile)
c.3386C>T (p.Thr1129Ile)
c.3128C>T (p.Thr1043Ile)
c.4406C>T (p.Thr1469Ile)
10g.75030296T>ACA470300115DUSP29,KAT6Bc.5472T>A (p.Thr1824=)
c.4923T>A (p.Thr1641=)
c.4596T>A (p.Thr1532=)
n.577-3702A>T
c.*3622-3702A>T (n.*3622-3702A>T)
c.5310T>A (p.Thr1770=)
c.4434T>A (p.Thr1478=)
c.3783T>A (p.Thr1261=)
c.3387T>A (p.Thr1129=)
c.3129T>A (p.Thr1043=)
c.4407T>A (p.Thr1469=)
 gnomAD v4
10g.75030296T>CCA470300114DUSP29,KAT6Bc.5472T>C (p.Thr1824=)
c.4923T>C (p.Thr1641=)
c.4596T>C (p.Thr1532=)
n.577-3702A>G
c.*3622-3702A>G (n.*3622-3702A>G)
c.5310T>C (p.Thr1770=)
c.4434T>C (p.Thr1478=)
c.3783T>C (p.Thr1261=)
c.3387T>C (p.Thr1129=)
c.3129T>C (p.Thr1043=)
c.4407T>C (p.Thr1469=)
10g.75030296T>GCA470300113DUSP29,KAT6Bc.5472T>G (p.Thr1824=)
c.4923T>G (p.Thr1641=)
c.4596T>G (p.Thr1532=)
n.577-3702A>C
c.*3622-3702A>C (n.*3622-3702A>C)
c.5310T>G (p.Thr1770=)
c.4434T>G (p.Thr1478=)
c.3783T>G (p.Thr1261=)
c.3387T>G (p.Thr1129=)
c.3129T>G (p.Thr1043=)
c.4407T>G (p.Thr1469=)
 gnomAD v4
10g.75030297A=CA1920307022DUSP29,KAT6Bc.5473A= (p.Asn1825=)
c.4924A= (p.Asn1642=)
c.4597A= (p.Asn1533=)
n.577-3703T=
c.*3622-3703T= (n.*3622-3703T=)
c.5311A= (p.Asn1771=)
c.4435A= (p.Asn1479=)
c.3784A= (p.Asn1262=)
c.3388A= (p.Asn1130=)
c.3130A= (p.Asn1044=)
c.4408A= (p.Asn1470=)
10g.75030297A>CCA377301345DUSP29,KAT6Bc.5473A>C (p.Asn1825His)
c.4924A>C (p.Asn1642His)
c.4597A>C (p.Asn1533His)
n.577-3703T>G
c.*3622-3703T>G (n.*3622-3703T>G)
c.5311A>C (p.Asn1771His)
c.4435A>C (p.Asn1479His)
c.3784A>C (p.Asn1262His)
c.3388A>C (p.Asn1130His)
c.3130A>C (p.Asn1044His)
c.4408A>C (p.Asn1470His)
 dbSNP
10g.75030297A>GCA377301346DUSP29,KAT6Bc.5473A>G (p.Asn1825Asp)
c.4924A>G (p.Asn1642Asp)
c.4597A>G (p.Asn1533Asp)
n.577-3703T>C
c.*3622-3703T>C (n.*3622-3703T>C)
c.5311A>G (p.Asn1771Asp)
c.4435A>G (p.Asn1479Asp)
c.3784A>G (p.Asn1262Asp)
c.3388A>G (p.Asn1130Asp)
c.3130A>G (p.Asn1044Asp)
c.4408A>G (p.Asn1470Asp)
 dbSNP gnomAD v4
10g.75030297A>TCA377301347DUSP29,KAT6Bc.5473A>T (p.Asn1825Tyr)
c.4924A>T (p.Asn1642Tyr)
c.4597A>T (p.Asn1533Tyr)
n.577-3703T>A
c.*3622-3703T>A (n.*3622-3703T>A)
c.5311A>T (p.Asn1771Tyr)
c.4435A>T (p.Asn1479Tyr)
c.3784A>T (p.Asn1262Tyr)
c.3388A>T (p.Asn1130Tyr)
c.3130A>T (p.Asn1044Tyr)
c.4408A>T (p.Asn1470Tyr)
10g.75030298A=CA1920307023DUSP29,KAT6Bc.5474A= (p.Asn1825=)
c.4925A= (p.Asn1642=)
c.4598A= (p.Asn1533=)
n.577-3704T=
c.*3622-3704T= (n.*3622-3704T=)
c.5312A= (p.Asn1771=)
c.4436A= (p.Asn1479=)
c.3785A= (p.Asn1262=)
c.3389A= (p.Asn1130=)
c.3131A= (p.Asn1044=)
c.4409A= (p.Asn1470=)
10g.75030298A>CCA377301348DUSP29,KAT6Bc.5474A>C (p.Asn1825Thr)
c.4925A>C (p.Asn1642Thr)
c.4598A>C (p.Asn1533Thr)
n.577-3704T>G
c.*3622-3704T>G (n.*3622-3704T>G)
c.5312A>C (p.Asn1771Thr)
c.4436A>C (p.Asn1479Thr)
c.3785A>C (p.Asn1262Thr)
c.3389A>C (p.Asn1130Thr)
c.3131A>C (p.Asn1044Thr)
c.4409A>C (p.Asn1470Thr)
10g.75030298A>GCA377301349DUSP29,KAT6Bc.5474A>G (p.Asn1825Ser)
c.4925A>G (p.Asn1642Ser)
c.4598A>G (p.Asn1533Ser)
n.577-3704T>C
c.*3622-3704T>C (n.*3622-3704T>C)
c.5312A>G (p.Asn1771Ser)
c.4436A>G (p.Asn1479Ser)
c.3785A>G (p.Asn1262Ser)
c.3389A>G (p.Asn1130Ser)
c.3131A>G (p.Asn1044Ser)
c.4409A>G (p.Asn1470Ser)
 dbSNP gnomAD v2 gnomAD v4
10g.75030298A>TCA377301350DUSP29,KAT6Bc.5474A>T (p.Asn1825Ile)
c.4925A>T (p.Asn1642Ile)
c.4598A>T (p.Asn1533Ile)
n.577-3704T>A
c.*3622-3704T>A (n.*3622-3704T>A)
c.5312A>T (p.Asn1771Ile)
c.4436A>T (p.Asn1479Ile)
c.3785A>T (p.Asn1262Ile)
c.3389A>T (p.Asn1130Ile)
c.3131A>T (p.Asn1044Ile)
c.4409A>T (p.Asn1470Ile)
10g.75030299T>ACA377301351DUSP29,KAT6Bc.5475T>A (p.Asn1825Lys)
c.4926T>A (p.Asn1642Lys)
c.4599T>A (p.Asn1533Lys)
n.577-3705A>T
c.*3622-3705A>T (n.*3622-3705A>T)
c.5313T>A (p.Asn1771Lys)
c.4437T>A (p.Asn1479Lys)
c.3786T>A (p.Asn1262Lys)
c.3390T>A (p.Asn1130Lys)
c.3132T>A (p.Asn1044Lys)
c.4410T>A (p.Asn1470Lys)
10g.75030299T>CCA470300131DUSP29,KAT6Bc.5475T>C (p.Asn1825=)
c.4926T>C (p.Asn1642=)
c.4599T>C (p.Asn1533=)
n.577-3705A>G
c.*3622-3705A>G (n.*3622-3705A>G)
c.5313T>C (p.Asn1771=)
c.4437T>C (p.Asn1479=)
c.3786T>C (p.Asn1262=)
c.3390T>C (p.Asn1130=)
c.3132T>C (p.Asn1044=)
c.4410T>C (p.Asn1470=)
 dbSNP gnomAD v4
10g.75030299T>GCA377301352DUSP29,KAT6Bc.5475T>G (p.Asn1825Lys)
c.4926T>G (p.Asn1642Lys)
c.4599T>G (p.Asn1533Lys)
n.577-3705A>C
c.*3622-3705A>C (n.*3622-3705A>C)
c.5313T>G (p.Asn1771Lys)
c.4437T>G (p.Asn1479Lys)
c.3786T>G (p.Asn1262Lys)
c.3390T>G (p.Asn1130Lys)
c.3132T>G (p.Asn1044Lys)
c.4410T>G (p.Asn1470Lys)
10g.75030299T=CA1920307024DUSP29,KAT6Bc.5475T= (p.Asn1825=)
c.4926T= (p.Asn1642=)
c.4599T= (p.Asn1533=)
n.577-3705A=
c.*3622-3705A= (n.*3622-3705A=)
c.5313T= (p.Asn1771=)
c.4437T= (p.Asn1479=)
c.3786T= (p.Asn1262=)
c.3390T= (p.Asn1130=)
c.3132T= (p.Asn1044=)
c.4410T= (p.Asn1470=)
10g.75030300A>CCA377301353DUSP29,KAT6Bc.5476A>C (p.Thr1826Pro)
c.4927A>C (p.Thr1643Pro)
c.4600A>C (p.Thr1534Pro)
n.577-3706T>G
c.*3622-3706T>G (n.*3622-3706T>G)
c.5314A>C (p.Thr1772Pro)
c.4438A>C (p.Thr1480Pro)
c.3787A>C (p.Thr1263Pro)
c.3391A>C (p.Thr1131Pro)
c.3133A>C (p.Thr1045Pro)
c.4411A>C (p.Thr1471Pro)
10g.75030300A>GCA377301354DUSP29,KAT6Bc.5476A>G (p.Thr1826Ala)
c.4927A>G (p.Thr1643Ala)
c.4600A>G (p.Thr1534Ala)
n.577-3706T>C
c.*3622-3706T>C (n.*3622-3706T>C)
c.5314A>G (p.Thr1772Ala)
c.4438A>G (p.Thr1480Ala)
c.3787A>G (p.Thr1263Ala)
c.3391A>G (p.Thr1131Ala)
c.3133A>G (p.Thr1045Ala)
c.4411A>G (p.Thr1471Ala)
 ClinVar
10g.75030300A>TCA377301355DUSP29,KAT6Bc.5476A>T (p.Thr1826Ser)
c.4927A>T (p.Thr1643Ser)
c.4600A>T (p.Thr1534Ser)
n.577-3706T>A
c.*3622-3706T>A (n.*3622-3706T>A)
c.5314A>T (p.Thr1772Ser)
c.4438A>T (p.Thr1480Ser)
c.3787A>T (p.Thr1263Ser)
c.3391A>T (p.Thr1131Ser)
c.3133A>T (p.Thr1045Ser)
c.4411A>T (p.Thr1471Ser)
10g.75030301C>ACA377301356DUSP29,KAT6Bc.5477C>A (p.Thr1826Lys)
c.4928C>A (p.Thr1643Lys)
c.4601C>A (p.Thr1534Lys)
n.577-3707G>T
c.*3622-3707G>T (n.*3622-3707G>T)
c.5315C>A (p.Thr1772Lys)
c.4439C>A (p.Thr1480Lys)
c.3788C>A (p.Thr1263Lys)
c.3392C>A (p.Thr1131Lys)
c.3134C>A (p.Thr1045Lys)
c.4412C>A (p.Thr1471Lys)
10g.75030301C>GCA377301357DUSP29,KAT6Bc.5477C>G (p.Thr1826Arg)
c.4928C>G (p.Thr1643Arg)
c.4601C>G (p.Thr1534Arg)
n.577-3707G>C
c.*3622-3707G>C (n.*3622-3707G>C)
c.5315C>G (p.Thr1772Arg)
c.4439C>G (p.Thr1480Arg)
c.3788C>G (p.Thr1263Arg)
c.3392C>G (p.Thr1131Arg)
c.3134C>G (p.Thr1045Arg)
c.4412C>G (p.Thr1471Arg)
10g.75030301C>TCA377301358DUSP29,KAT6Bc.5477C>T (p.Thr1826Ile)
c.4928C>T (p.Thr1643Ile)
c.4601C>T (p.Thr1534Ile)
n.577-3707G>A
c.*3622-3707G>A (n.*3622-3707G>A)
c.5315C>T (p.Thr1772Ile)
c.4439C>T (p.Thr1480Ile)
c.3788C>T (p.Thr1263Ile)
c.3392C>T (p.Thr1131Ile)
c.3134C>T (p.Thr1045Ile)
c.4412C>T (p.Thr1471Ile)
10g.75030302A>CCA470300136DUSP29,KAT6Bc.5478A>C (p.Thr1826=)
c.4929A>C (p.Thr1643=)
c.4602A>C (p.Thr1534=)
n.577-3708T>G
c.*3622-3708T>G (n.*3622-3708T>G)
c.5316A>C (p.Thr1772=)
c.4440A>C (p.Thr1480=)
c.3789A>C (p.Thr1263=)
c.3393A>C (p.Thr1131=)
c.3135A>C (p.Thr1045=)
c.4413A>C (p.Thr1471=)
10g.75030302A>GCA470300137DUSP29,KAT6Bc.5478A>G (p.Thr1826=)
c.4929A>G (p.Thr1643=)
c.4602A>G (p.Thr1534=)
n.577-3708T>C
c.*3622-3708T>C (n.*3622-3708T>C)
c.5316A>G (p.Thr1772=)
c.4440A>G (p.Thr1480=)
c.3789A>G (p.Thr1263=)
c.3393A>G (p.Thr1131=)
c.3135A>G (p.Thr1045=)
c.4413A>G (p.Thr1471=)
 gnomAD v4
10g.75030302A>TCA470300139DUSP29,KAT6Bc.5478A>T (p.Thr1826=)
c.4929A>T (p.Thr1643=)
c.4602A>T (p.Thr1534=)
n.577-3708T>A
c.*3622-3708T>A (n.*3622-3708T>A)
c.5316A>T (p.Thr1772=)
c.4440A>T (p.Thr1480=)
c.3789A>T (p.Thr1263=)
c.3393A>T (p.Thr1131=)
c.3135A>T (p.Thr1045=)
c.4413A>T (p.Thr1471=)
10g.75030303C>ACA377301360DUSP29,KAT6Bc.5479C>A (p.Leu1827Ile)
c.4930C>A (p.Leu1644Ile)
c.4603C>A (p.Leu1535Ile)
n.577-3709G>T
c.*3622-3709G>T (n.*3622-3709G>T)
c.5317C>A (p.Leu1773Ile)
c.4441C>A (p.Leu1481Ile)
c.3790C>A (p.Leu1264Ile)
c.3394C>A (p.Leu1132Ile)
c.3136C>A (p.Leu1046Ile)
c.4414C>A (p.Leu1472Ile)
10g.75030303C=CA1920307025DUSP29,KAT6Bc.5479C= (p.Leu1827=)
c.4930C= (p.Leu1644=)
c.4603C= (p.Leu1535=)
n.577-3709G=
c.*3622-3709G= (n.*3622-3709G=)
c.5317C= (p.Leu1773=)
c.4441C= (p.Leu1481=)
c.3790C= (p.Leu1264=)
c.3394C= (p.Leu1132=)
c.3136C= (p.Leu1046=)
c.4414C= (p.Leu1472=)
10g.75030303C>GCA377301359DUSP29,KAT6Bc.5479C>G (p.Leu1827Val)
c.4930C>G (p.Leu1644Val)
c.4603C>G (p.Leu1535Val)
n.577-3709G>C
c.*3622-3709G>C (n.*3622-3709G>C)
c.5317C>G (p.Leu1773Val)
c.4441C>G (p.Leu1481Val)
c.3790C>G (p.Leu1264Val)
c.3394C>G (p.Leu1132Val)
c.3136C>G (p.Leu1046Val)
c.4414C>G (p.Leu1472Val)
10g.75030303C>TCA5565205DUSP29,KAT6Bc.5479C>T (p.Leu1827Phe)
c.4930C>T (p.Leu1644Phe)
c.4603C>T (p.Leu1535Phe)
n.577-3709G>A
c.*3622-3709G>A (n.*3622-3709G>A)
c.5317C>T (p.Leu1773Phe)
c.4441C>T (p.Leu1481Phe)
c.3790C>T (p.Leu1264Phe)
c.3394C>T (p.Leu1132Phe)
c.3136C>T (p.Leu1046Phe)
c.4414C>T (p.Leu1472Phe)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.75030304T>ACA377301361DUSP29,KAT6Bc.5480T>A (p.Leu1827His)
c.4931T>A (p.Leu1644His)
c.4604T>A (p.Leu1535His)
n.577-3710A>T
c.*3622-3710A>T (n.*3622-3710A>T)
c.5318T>A (p.Leu1773His)
c.4442T>A (p.Leu1481His)
c.3791T>A (p.Leu1264His)
c.3395T>A (p.Leu1132His)
c.3137T>A (p.Leu1046His)
c.4415T>A (p.Leu1472His)
10g.75030304T>CCA377301362DUSP29,KAT6Bc.5480T>C (p.Leu1827Pro)
c.4931T>C (p.Leu1644Pro)
c.4604T>C (p.Leu1535Pro)
n.577-3710A>G
c.*3622-3710A>G (n.*3622-3710A>G)
c.5318T>C (p.Leu1773Pro)
c.4442T>C (p.Leu1481Pro)
c.3791T>C (p.Leu1264Pro)
c.3395T>C (p.Leu1132Pro)
c.3137T>C (p.Leu1046Pro)
c.4415T>C (p.Leu1472Pro)
10g.75030304T>GCA377301363DUSP29,KAT6Bc.5480T>G (p.Leu1827Arg)
c.4931T>G (p.Leu1644Arg)
c.4604T>G (p.Leu1535Arg)
n.577-3710A>C
c.*3622-3710A>C (n.*3622-3710A>C)
c.5318T>G (p.Leu1773Arg)
c.4442T>G (p.Leu1481Arg)
c.3791T>G (p.Leu1264Arg)
c.3395T>G (p.Leu1132Arg)
c.3137T>G (p.Leu1046Arg)
c.4415T>G (p.Leu1472Arg)
10g.75030305T>ACA470300147DUSP29,KAT6Bc.5481T>A (p.Leu1827=)
c.4932T>A (p.Leu1644=)
c.4605T>A (p.Leu1535=)
n.577-3711A>T
c.*3622-3711A>T (n.*3622-3711A>T)
c.5319T>A (p.Leu1773=)
c.4443T>A (p.Leu1481=)
c.3792T>A (p.Leu1264=)
c.3396T>A (p.Leu1132=)
c.3138T>A (p.Leu1046=)
c.4416T>A (p.Leu1472=)
10g.75030305T>CCA470300148DUSP29,KAT6Bc.5481T>C (p.Leu1827=)
c.4932T>C (p.Leu1644=)
c.4605T>C (p.Leu1535=)
n.577-3711A>G
c.*3622-3711A>G (n.*3622-3711A>G)
c.5319T>C (p.Leu1773=)
c.4443T>C (p.Leu1481=)
c.3792T>C (p.Leu1264=)
c.3396T>C (p.Leu1132=)
c.3138T>C (p.Leu1046=)
c.4416T>C (p.Leu1472=)
10g.75030305T>GCA470300149DUSP29,KAT6Bc.5481T>G (p.Leu1827=)
c.4932T>G (p.Leu1644=)
c.4605T>G (p.Leu1535=)
n.577-3711A>C
c.*3622-3711A>C (n.*3622-3711A>C)
c.5319T>G (p.Leu1773=)
c.4443T>G (p.Leu1481=)
c.3792T>G (p.Leu1264=)
c.3396T>G (p.Leu1132=)
c.3138T>G (p.Leu1046=)
c.4416T>G (p.Leu1472=)
10g.75030306A=CA1920307026DUSP29,KAT6Bc.5482A= (p.Ile1828=)
c.4933A= (p.Ile1645=)
c.4606A= (p.Ile1536=)
n.577-3712T=
c.*3622-3712T= (n.*3622-3712T=)
c.5320A= (p.Ile1774=)
c.4444A= (p.Ile1482=)
c.3793A= (p.Ile1265=)
c.3397A= (p.Ile1133=)
c.3139A= (p.Ile1047=)
c.4417A= (p.Ile1473=)
10g.75030306A>CCA377301364DUSP29,KAT6Bc.5482A>C (p.Ile1828Leu)
c.4933A>C (p.Ile1645Leu)
c.4606A>C (p.Ile1536Leu)
n.577-3712T>G
c.*3622-3712T>G (n.*3622-3712T>G)
c.5320A>C (p.Ile1774Leu)
c.4444A>C (p.Ile1482Leu)
c.3793A>C (p.Ile1265Leu)
c.3397A>C (p.Ile1133Leu)
c.3139A>C (p.Ile1047Leu)
c.4417A>C (p.Ile1473Leu)
10g.75030306A>GCA377301365DUSP29,KAT6Bc.5482A>G (p.Ile1828Val)
c.4933A>G (p.Ile1645Val)
c.4606A>G (p.Ile1536Val)
n.577-3712T>C
c.*3622-3712T>C (n.*3622-3712T>C)
c.5320A>G (p.Ile1774Val)
c.4444A>G (p.Ile1482Val)
c.3793A>G (p.Ile1265Val)
c.3397A>G (p.Ile1133Val)
c.3139A>G (p.Ile1047Val)
c.4417A>G (p.Ile1473Val)
 dbSNP
10g.75030306A>TCA5565206DUSP29,KAT6Bc.5482A>T (p.Ile1828Phe)
c.4933A>T (p.Ile1645Phe)
c.4606A>T (p.Ile1536Phe)
n.577-3712T>A
c.*3622-3712T>A (n.*3622-3712T>A)
c.5320A>T (p.Ile1774Phe)
c.4444A>T (p.Ile1482Phe)
c.3793A>T (p.Ile1265Phe)
c.3397A>T (p.Ile1133Phe)
c.3139A>T (p.Ile1047Phe)
c.4417A>T (p.Ile1473Phe)
 dbSNP ExAC gnomAD v2
10g.75030307T>ACA377301366DUSP29,KAT6Bc.5483T>A (p.Ile1828Asn)
c.4934T>A (p.Ile1645Asn)
c.4607T>A (p.Ile1536Asn)
n.577-3713A>T
c.*3622-3713A>T (n.*3622-3713A>T)
c.5321T>A (p.Ile1774Asn)
c.4445T>A (p.Ile1482Asn)
c.3794T>A (p.Ile1265Asn)
c.3398T>A (p.Ile1133Asn)
c.3140T>A (p.Ile1047Asn)
c.4418T>A (p.Ile1473Asn)
10g.75030307T>CCA377301368DUSP29,KAT6Bc.5483T>C (p.Ile1828Thr)
c.4934T>C (p.Ile1645Thr)
c.4607T>C (p.Ile1536Thr)
n.577-3713A>G
c.*3622-3713A>G (n.*3622-3713A>G)
c.5321T>C (p.Ile1774Thr)
c.4445T>C (p.Ile1482Thr)
c.3794T>C (p.Ile1265Thr)
c.3398T>C (p.Ile1133Thr)
c.3140T>C (p.Ile1047Thr)
c.4418T>C (p.Ile1473Thr)
 gnomAD v4
10g.75030307T>GCA377301367DUSP29,KAT6Bc.5483T>G (p.Ile1828Ser)
c.4934T>G (p.Ile1645Ser)
c.4607T>G (p.Ile1536Ser)
n.577-3713A>C
c.*3622-3713A>C (n.*3622-3713A>C)
c.5321T>G (p.Ile1774Ser)
c.4445T>G (p.Ile1482Ser)
c.3794T>G (p.Ile1265Ser)
c.3398T>G (p.Ile1133Ser)
c.3140T>G (p.Ile1047Ser)
c.4418T>G (p.Ile1473Ser)
10g.75030308T>ACA470300156DUSP29,KAT6Bc.5484T>A (p.Ile1828=)
c.4935T>A (p.Ile1645=)
c.4608T>A (p.Ile1536=)
n.577-3714A>T
c.*3622-3714A>T (n.*3622-3714A>T)
c.5322T>A (p.Ile1774=)
c.4446T>A (p.Ile1482=)
c.3795T>A (p.Ile1265=)
c.3399T>A (p.Ile1133=)
c.3141T>A (p.Ile1047=)
c.4419T>A (p.Ile1473=)
10g.75030308T>CCA5565207DUSP29,KAT6Bc.5484T>C (p.Ile1828=)
c.4935T>C (p.Ile1645=)
c.4608T>C (p.Ile1536=)
n.577-3714A>G
c.*3622-3714A>G (n.*3622-3714A>G)
c.5322T>C (p.Ile1774=)
c.4446T>C (p.Ile1482=)
c.3795T>C (p.Ile1265=)
c.3399T>C (p.Ile1133=)
c.3141T>C (p.Ile1047=)
c.4419T>C (p.Ile1473=)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.75030308T>GCA377301369DUSP29,KAT6Bc.5484T>G (p.Ile1828Met)
c.4935T>G (p.Ile1645Met)
c.4608T>G (p.Ile1536Met)
n.577-3714A>C
c.*3622-3714A>C (n.*3622-3714A>C)
c.5322T>G (p.Ile1774Met)
c.4446T>G (p.Ile1482Met)
c.3795T>G (p.Ile1265Met)
c.3399T>G (p.Ile1133Met)
c.3141T>G (p.Ile1047Met)
c.4419T>G (p.Ile1473Met)
10g.75030308T=CA1920307027DUSP29,KAT6Bc.5484T= (p.Ile1828=)
c.4935T= (p.Ile1645=)
c.4608T= (p.Ile1536=)
n.577-3714A=
c.*3622-3714A= (n.*3622-3714A=)
c.5322T= (p.Ile1774=)
c.4446T= (p.Ile1482=)
c.3795T= (p.Ile1265=)
c.3399T= (p.Ile1133=)
c.3141T= (p.Ile1047=)
c.4419T= (p.Ile1473=)
10g.75030309G>ACA377301370DUSP29,KAT6Bc.5485G>A (p.Asp1829Asn)
c.4936G>A (p.Asp1646Asn)
c.4609G>A (p.Asp1537Asn)
n.577-3715C>T
c.*3622-3715C>T (n.*3622-3715C>T)
c.5323G>A (p.Asp1775Asn)
c.4447G>A (p.Asp1483Asn)
c.3796G>A (p.Asp1266Asn)
c.3400G>A (p.Asp1134Asn)
c.3142G>A (p.Asp1048Asn)
c.4420G>A (p.Asp1474Asn)
10g.75030309G>CCA377301371DUSP29,KAT6Bc.5485G>C (p.Asp1829His)
c.4936G>C (p.Asp1646His)
c.4609G>C (p.Asp1537His)
n.577-3715C>G
c.*3622-3715C>G (n.*3622-3715C>G)
c.5323G>C (p.Asp1775His)
c.4447G>C (p.Asp1483His)
c.3796G>C (p.Asp1266His)
c.3400G>C (p.Asp1134His)
c.3142G>C (p.Asp1048His)
c.4420G>C (p.Asp1474His)
10g.75030309G>TCA377301372DUSP29,KAT6Bc.5485G>T (p.Asp1829Tyr)
c.4936G>T (p.Asp1646Tyr)
c.4609G>T (p.Asp1537Tyr)
n.577-3715C>A
c.*3622-3715C>A (n.*3622-3715C>A)
c.5323G>T (p.Asp1775Tyr)
c.4447G>T (p.Asp1483Tyr)
c.3796G>T (p.Asp1266Tyr)
c.3400G>T (p.Asp1134Tyr)
c.3142G>T (p.Asp1048Tyr)
c.4420G>T (p.Asp1474Tyr)
10g.75030310A=CA1920307028DUSP29,KAT6Bc.5486A= (p.Asp1829=)
c.4937A= (p.Asp1646=)
c.4610A= (p.Asp1537=)
n.577-3716T=
c.*3622-3716T= (n.*3622-3716T=)
c.5324A= (p.Asp1775=)
c.4448A= (p.Asp1483=)
c.3797A= (p.Asp1266=)
c.3401A= (p.Asp1134=)
c.3143A= (p.Asp1048=)
c.4421A= (p.Asp1474=)
10g.75030310A>CCA377301373DUSP29,KAT6Bc.5486A>C (p.Asp1829Ala)
c.4937A>C (p.Asp1646Ala)
c.4610A>C (p.Asp1537Ala)
n.577-3716T>G
c.*3622-3716T>G (n.*3622-3716T>G)
c.5324A>C (p.Asp1775Ala)
c.4448A>C (p.Asp1483Ala)
c.3797A>C (p.Asp1266Ala)
c.3401A>C (p.Asp1134Ala)
c.3143A>C (p.Asp1048Ala)
c.4421A>C (p.Asp1474Ala)
10g.75030310A>GCA377301374DUSP29,KAT6Bc.5486A>G (p.Asp1829Gly)
c.4937A>G (p.Asp1646Gly)
c.4610A>G (p.Asp1537Gly)
n.577-3716T>C
c.*3622-3716T>C (n.*3622-3716T>C)
c.5324A>G (p.Asp1775Gly)
c.4448A>G (p.Asp1483Gly)
c.3797A>G (p.Asp1266Gly)
c.3401A>G (p.Asp1134Gly)
c.3143A>G (p.Asp1048Gly)
c.4421A>G (p.Asp1474Gly)
 COSMIC
10g.75030310A>TCA377301375DUSP29,KAT6Bc.5486A>T (p.Asp1829Val)
c.4937A>T (p.Asp1646Val)
c.4610A>T (p.Asp1537Val)
n.577-3716T>A
c.*3622-3716T>A (n.*3622-3716T>A)
c.5324A>T (p.Asp1775Val)
c.4448A>T (p.Asp1483Val)
c.3797A>T (p.Asp1266Val)
c.3401A>T (p.Asp1134Val)
c.3143A>T (p.Asp1048Val)
c.4421A>T (p.Asp1474Val)
 ClinVar dbSNP
10g.75030311T>ACA377301376DUSP29,KAT6Bc.5487T>A (p.Asp1829Glu)
c.4938T>A (p.Asp1646Glu)
c.4611T>A (p.Asp1537Glu)
n.577-3717A>T
c.*3622-3717A>T (n.*3622-3717A>T)
c.5325T>A (p.Asp1775Glu)
c.4449T>A (p.Asp1483Glu)
c.3798T>A (p.Asp1266Glu)
c.3402T>A (p.Asp1134Glu)
c.3144T>A (p.Asp1048Glu)
c.4422T>A (p.Asp1474Glu)
10g.75030311T>CCA5565208DUSP29,KAT6Bc.5487T>C (p.Asp1829=)
c.4938T>C (p.Asp1646=)
c.4611T>C (p.Asp1537=)
n.577-3717A>G
c.*3622-3717A>G (n.*3622-3717A>G)
c.5325T>C (p.Asp1775=)
c.4449T>C (p.Asp1483=)
c.3798T>C (p.Asp1266=)
c.3402T>C (p.Asp1134=)
c.3144T>C (p.Asp1048=)
c.4422T>C (p.Asp1474=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.75030311T>GCA377301380DUSP29,KAT6Bc.5487T>G (p.Asp1829Glu)
c.4938T>G (p.Asp1646Glu)
c.4611T>G (p.Asp1537Glu)
n.577-3717A>C
c.*3622-3717A>C (n.*3622-3717A>C)
c.5325T>G (p.Asp1775Glu)
c.4449T>G (p.Asp1483Glu)
c.3798T>G (p.Asp1266Glu)
c.3402T>G (p.Asp1134Glu)
c.3144T>G (p.Asp1048Glu)
c.4422T>G (p.Asp1474Glu)
10g.75030311T=CA1920307029DUSP29,KAT6Bc.5487T= (p.Asp1829=)
c.4938T= (p.Asp1646=)
c.4611T= (p.Asp1537=)
n.577-3717A=
c.*3622-3717A= (n.*3622-3717A=)
c.5325T= (p.Asp1775=)
c.4449T= (p.Asp1483=)
c.3798T= (p.Asp1266=)
c.3402T= (p.Asp1134=)
c.3144T= (p.Asp1048=)
c.4422T= (p.Asp1474=)
10g.75030312C>ACA377301382DUSP29,KAT6Bc.5488C>A (p.His1830Asn)
c.4939C>A (p.His1647Asn)
c.4612C>A (p.His1538Asn)
n.577-3718G>T
c.*3622-3718G>T (n.*3622-3718G>T)
c.5326C>A (p.His1776Asn)
c.4450C>A (p.His1484Asn)
c.3799C>A (p.His1267Asn)
c.3403C>A (p.His1135Asn)
c.3145C>A (p.His1049Asn)
c.4423C>A (p.His1475Asn)
10g.75030312C=CA1920307030DUSP29,KAT6Bc.5488C= (p.His1830=)
c.4939C= (p.His1647=)
c.4612C= (p.His1538=)
n.577-3718G=
c.*3622-3718G= (n.*3622-3718G=)
c.5326C= (p.His1776=)
c.4450C= (p.His1484=)
c.3799C= (p.His1267=)
c.3403C= (p.His1135=)
c.3145C= (p.His1049=)
c.4423C= (p.His1475=)
10g.75030312C>GCA377301385DUSP29,KAT6Bc.5488C>G (p.His1830Asp)
c.4939C>G (p.His1647Asp)
c.4612C>G (p.His1538Asp)
n.577-3718G>C
c.*3622-3718G>C (n.*3622-3718G>C)
c.5326C>G (p.His1776Asp)
c.4450C>G (p.His1484Asp)
c.3799C>G (p.His1267Asp)
c.3403C>G (p.His1135Asp)
c.3145C>G (p.His1049Asp)
c.4423C>G (p.His1475Asp)
10g.75030312C>TCA5565209DUSP29,KAT6Bc.5488C>T (p.His1830Tyr)
c.4939C>T (p.His1647Tyr)
c.4612C>T (p.His1538Tyr)
n.577-3718G>A
c.*3622-3718G>A (n.*3622-3718G>A)
c.5326C>T (p.His1776Tyr)
c.4450C>T (p.His1484Tyr)
c.3799C>T (p.His1267Tyr)
c.3403C>T (p.His1135Tyr)
c.3145C>T (p.His1049Tyr)
c.4423C>T (p.His1475Tyr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
10g.75030313A>CCA377301388DUSP29,KAT6Bc.5489A>C (p.His1830Pro)
c.4940A>C (p.His1647Pro)
c.4613A>C (p.His1538Pro)
n.577-3719T>G
c.*3622-3719T>G (n.*3622-3719T>G)
c.5327A>C (p.His1776Pro)
c.4451A>C (p.His1484Pro)
c.3800A>C (p.His1267Pro)
c.3404A>C (p.His1135Pro)
c.3146A>C (p.His1049Pro)
c.4424A>C (p.His1475Pro)
10g.75030313A>GCA377301390DUSP29,KAT6Bc.5489A>G (p.His1830Arg)
c.4940A>G (p.His1647Arg)
c.4613A>G (p.His1538Arg)
n.577-3719T>C
c.*3622-3719T>C (n.*3622-3719T>C)
c.5327A>G (p.His1776Arg)
c.4451A>G (p.His1484Arg)
c.3800A>G (p.His1267Arg)
c.3404A>G (p.His1135Arg)
c.3146A>G (p.His1049Arg)
c.4424A>G (p.His1475Arg)
10g.75030313A>TCA377301392DUSP29,KAT6Bc.5489A>T (p.His1830Leu)
c.4940A>T (p.His1647Leu)
c.4613A>T (p.His1538Leu)
n.577-3719T>A
c.*3622-3719T>A (n.*3622-3719T>A)
c.5327A>T (p.His1776Leu)
c.4451A>T (p.His1484Leu)
c.3800A>T (p.His1267Leu)
c.3404A>T (p.His1135Leu)
c.3146A>T (p.His1049Leu)
c.4424A>T (p.His1475Leu)
10g.75030314T>ACA377301395DUSP29,KAT6Bc.5490T>A (p.His1830Gln)
c.4941T>A (p.His1647Gln)
c.4614T>A (p.His1538Gln)
n.577-3720A>T
c.*3622-3720A>T (n.*3622-3720A>T)
c.5328T>A (p.His1776Gln)
c.4452T>A (p.His1484Gln)
c.3801T>A (p.His1267Gln)
c.3405T>A (p.His1135Gln)
c.3147T>A (p.His1049Gln)
c.4425T>A (p.His1475Gln)
10g.75030314T>CCA470300165DUSP29,KAT6Bc.5490T>C (p.His1830=)
c.4941T>C (p.His1647=)
c.4614T>C (p.His1538=)
n.577-3720A>G
c.*3622-3720A>G (n.*3622-3720A>G)
c.5328T>C (p.His1776=)
c.4452T>C (p.His1484=)
c.3801T>C (p.His1267=)
c.3405T>C (p.His1135=)
c.3147T>C (p.His1049=)
c.4425T>C (p.His1475=)
 gnomAD v4
10g.75030314T>GCA377301396DUSP29,KAT6Bc.5490T>G (p.His1830Gln)
c.4941T>G (p.His1647Gln)
c.4614T>G (p.His1538Gln)
n.577-3720A>C
c.*3622-3720A>C (n.*3622-3720A>C)
c.5328T>G (p.His1776Gln)
c.4452T>G (p.His1484Gln)
c.3801T>G (p.His1267Gln)
c.3405T>G (p.His1135Gln)
c.3147T>G (p.His1049Gln)
c.4425T>G (p.His1475Gln)
10g.75030315T>ACA377301398DUSP29,KAT6Bc.5491T>A (p.Ser1831Thr)
c.4942T>A (p.Ser1648Thr)
c.4615T>A (p.Ser1539Thr)
n.577-3721A>T
c.*3622-3721A>T (n.*3622-3721A>T)
c.5329T>A (p.Ser1777Thr)
c.4453T>A (p.Ser1485Thr)
c.3802T>A (p.Ser1268Thr)
c.3406T>A (p.Ser1136Thr)
c.3148T>A (p.Ser1050Thr)
c.4426T>A (p.Ser1476Thr)
10g.75030315T>CCA377301400DUSP29,KAT6Bc.5491T>C (p.Ser1831Pro)
c.4942T>C (p.Ser1648Pro)
c.4615T>C (p.Ser1539Pro)
n.577-3721A>G
c.*3622-3721A>G (n.*3622-3721A>G)
c.5329T>C (p.Ser1777Pro)
c.4453T>C (p.Ser1485Pro)
c.3802T>C (p.Ser1268Pro)
c.3406T>C (p.Ser1136Pro)
c.3148T>C (p.Ser1050Pro)
c.4426T>C (p.Ser1476Pro)
10g.75030315T>GCA377301402DUSP29,KAT6Bc.5491T>G (p.Ser1831Ala)
c.4942T>G (p.Ser1648Ala)
c.4615T>G (p.Ser1539Ala)
n.577-3721A>C
c.*3622-3721A>C (n.*3622-3721A>C)
c.5329T>G (p.Ser1777Ala)
c.4453T>G (p.Ser1485Ala)
c.3802T>G (p.Ser1268Ala)
c.3406T>G (p.Ser1136Ala)
c.3148T>G (p.Ser1050Ala)
c.4426T>G (p.Ser1476Ala)
10g.75030316C>ACA377301404DUSP29,KAT6Bc.5492C>A (p.Ser1831Ter)
c.4943C>A (p.Ser1648Ter)
c.4616C>A (p.Ser1539Ter)
n.577-3722G>T
c.*3622-3722G>T (n.*3622-3722G>T)
c.5330C>A (p.Ser1777Ter)
c.4454C>A (p.Ser1485Ter)
c.3803C>A (p.Ser1268Ter)
c.3407C>A (p.Ser1136Ter)
c.3149C>A (p.Ser1050Ter)
c.4427C>A (p.Ser1476Ter)
10g.75030316C>GCA377301406DUSP29,KAT6Bc.5492C>G (p.Ser1831Ter)
c.4943C>G (p.Ser1648Ter)
c.4616C>G (p.Ser1539Ter)
n.577-3722G>C
c.*3622-3722G>C (n.*3622-3722G>C)
c.5330C>G (p.Ser1777Ter)
c.4454C>G (p.Ser1485Ter)
c.3803C>G (p.Ser1268Ter)
c.3407C>G (p.Ser1136Ter)
c.3149C>G (p.Ser1050Ter)
c.4427C>G (p.Ser1476Ter)
10g.75030316C>TCA377301408DUSP29,KAT6Bc.5492C>T (p.Ser1831Leu)
c.4943C>T (p.Ser1648Leu)
c.4616C>T (p.Ser1539Leu)
n.577-3722G>A
c.*3622-3722G>A (n.*3622-3722G>A)
c.5330C>T (p.Ser1777Leu)
c.4454C>T (p.Ser1485Leu)
c.3803C>T (p.Ser1268Leu)
c.3407C>T (p.Ser1136Leu)
c.3149C>T (p.Ser1050Leu)
c.4427C>T (p.Ser1476Leu)
10g.75030317A=CA1920307031DUSP29,KAT6Bc.5493A= (p.Ser1831=)
c.4944A= (p.Ser1648=)
c.4617A= (p.Ser1539=)
n.577-3723T=
c.*3622-3723T= (n.*3622-3723T=)
c.5331A= (p.Ser1777=)
c.4455A= (p.Ser1485=)
c.3804A= (p.Ser1268=)
c.3408A= (p.Ser1136=)
c.3150A= (p.Ser1050=)
c.4428A= (p.Ser1476=)
10g.75030317A>CCA470300167DUSP29,KAT6Bc.5493A>C (p.Ser1831=)
c.4944A>C (p.Ser1648=)
c.4617A>C (p.Ser1539=)
n.577-3723T>G
c.*3622-3723T>G (n.*3622-3723T>G)
c.5331A>C (p.Ser1777=)
c.4455A>C (p.Ser1485=)
c.3804A>C (p.Ser1268=)
c.3408A>C (p.Ser1136=)
c.3150A>C (p.Ser1050=)
c.4428A>C (p.Ser1476=)
10g.75030317A>GCA470300168DUSP29,KAT6Bc.5493A>G (p.Ser1831=)
c.4944A>G (p.Ser1648=)
c.4617A>G (p.Ser1539=)
n.577-3723T>C
c.*3622-3723T>C (n.*3622-3723T>C)
c.5331A>G (p.Ser1777=)
c.4455A>G (p.Ser1485=)
c.3804A>G (p.Ser1268=)
c.3408A>G (p.Ser1136=)
c.3150A>G (p.Ser1050=)
c.4428A>G (p.Ser1476=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
10g.75030317A>TCA470300169DUSP29,KAT6Bc.5493A>T (p.Ser1831=)
c.4944A>T (p.Ser1648=)
c.4617A>T (p.Ser1539=)
n.577-3723T>A
c.*3622-3723T>A (n.*3622-3723T>A)
c.5331A>T (p.Ser1777=)
c.4455A>T (p.Ser1485=)
c.3804A>T (p.Ser1268=)
c.3408A>T (p.Ser1136=)
c.3150A>T (p.Ser1050=)
c.4428A>T (p.Ser1476=)
10g.75030318T>ACA377301411DUSP29,KAT6Bc.5494T>A (p.Leu1832Met)
c.4945T>A (p.Leu1649Met)
c.4618T>A (p.Leu1540Met)
n.577-3724A>T
c.*3622-3724A>T (n.*3622-3724A>T)
c.5332T>A (p.Leu1778Met)
c.4456T>A (p.Leu1486Met)
c.3805T>A (p.Leu1269Met)
c.3409T>A (p.Leu1137Met)
c.3151T>A (p.Leu1051Met)
c.4429T>A (p.Leu1477Met)
10g.75030318T>CCA470300170DUSP29,KAT6Bc.5494T>C (p.Leu1832=)
c.4945T>C (p.Leu1649=)
c.4618T>C (p.Leu1540=)
n.577-3724A>G
c.*3622-3724A>G (n.*3622-3724A>G)
c.5332T>C (p.Leu1778=)
c.4456T>C (p.Leu1486=)
c.3805T>C (p.Leu1269=)
c.3409T>C (p.Leu1137=)
c.3151T>C (p.Leu1051=)
c.4429T>C (p.Leu1477=)
10g.75030318T>GCA377301412DUSP29,KAT6Bc.5494T>G (p.Leu1832Val)
c.4945T>G (p.Leu1649Val)
c.4618T>G (p.Leu1540Val)
n.577-3724A>C
c.*3622-3724A>C (n.*3622-3724A>C)
c.5332T>G (p.Leu1778Val)
c.4456T>G (p.Leu1486Val)
c.3805T>G (p.Leu1269Val)
c.3409T>G (p.Leu1137Val)
c.3151T>G (p.Leu1051Val)
c.4429T>G (p.Leu1477Val)
10g.75030319T>ACA377301417DUSP29,KAT6Bc.5495T>A (p.Leu1832Ter)
c.4946T>A (p.Leu1649Ter)
c.4619T>A (p.Leu1540Ter)
n.577-3725A>T
c.*3622-3725A>T (n.*3622-3725A>T)
c.5333T>A (p.Leu1778Ter)
c.4457T>A (p.Leu1486Ter)
c.3806T>A (p.Leu1269Ter)
c.3410T>A (p.Leu1137Ter)
c.3152T>A (p.Leu1051Ter)
c.4430T>A (p.Leu1477Ter)
10g.75030319T>CCA377301416DUSP29,KAT6Bc.5495T>C (p.Leu1832Ser)
c.4946T>C (p.Leu1649Ser)
c.4619T>C (p.Leu1540Ser)
n.577-3725A>G
c.*3622-3725A>G (n.*3622-3725A>G)
c.5333T>C (p.Leu1778Ser)
c.4457T>C (p.Leu1486Ser)
c.3806T>C (p.Leu1269Ser)
c.3410T>C (p.Leu1137Ser)
c.3152T>C (p.Leu1051Ser)
c.4430T>C (p.Leu1477Ser)
10g.75030319T>GCA377301414DUSP29,KAT6Bc.5495T>G (p.Leu1832Trp)
c.4946T>G (p.Leu1649Trp)
c.4619T>G (p.Leu1540Trp)
n.577-3725A>C
c.*3622-3725A>C (n.*3622-3725A>C)
c.5333T>G (p.Leu1778Trp)
c.4457T>G (p.Leu1486Trp)
c.3806T>G (p.Leu1269Trp)
c.3410T>G (p.Leu1137Trp)
c.3152T>G (p.Leu1051Trp)
c.4430T>G (p.Leu1477Trp)
10g.75030320G>ACA470300173DUSP29,KAT6Bc.5496G>A (p.Leu1832=)
c.4947G>A (p.Leu1649=)
c.4620G>A (p.Leu1540=)
n.577-3726C>T
c.*3622-3726C>T (n.*3622-3726C>T)
c.5334G>A (p.Leu1778=)
c.4458G>A (p.Leu1486=)
c.3807G>A (p.Leu1269=)
c.3411G>A (p.Leu1137=)
c.3153G>A (p.Leu1051=)
c.4431G>A (p.Leu1477=)
10g.75030320G>CCA377301420DUSP29,KAT6Bc.5496G>C (p.Leu1832Phe)
c.4947G>C (p.Leu1649Phe)
c.4620G>C (p.Leu1540Phe)
n.577-3726C>G
c.*3622-3726C>G (n.*3622-3726C>G)
c.5334G>C (p.Leu1778Phe)
c.4458G>C (p.Leu1486Phe)
c.3807G>C (p.Leu1269Phe)
c.3411G>C (p.Leu1137Phe)
c.3153G>C (p.Leu1051Phe)
c.4431G>C (p.Leu1477Phe)
10g.75030320G>TCA377301422DUSP29,KAT6Bc.5496G>T (p.Leu1832Phe)
c.4947G>T (p.Leu1649Phe)
c.4620G>T (p.Leu1540Phe)
n.577-3726C>A
c.*3622-3726C>A (n.*3622-3726C>A)
c.5334G>T (p.Leu1778Phe)
c.4458G>T (p.Leu1486Phe)
c.3807G>T (p.Leu1269Phe)
c.3411G>T (p.Leu1137Phe)
c.3153G>T (p.Leu1051Phe)
c.4431G>T (p.Leu1477Phe)
10g.75030321C>ACA377301424DUSP29,KAT6Bc.5497C>A (p.Pro1833Thr)
c.4948C>A (p.Pro1650Thr)
c.4621C>A (p.Pro1541Thr)
n.577-3727G>T
c.*3622-3727G>T (n.*3622-3727G>T)
c.5335C>A (p.Pro1779Thr)
c.4459C>A (p.Pro1487Thr)
c.3808C>A (p.Pro1270Thr)
c.3412C>A (p.Pro1138Thr)
c.3154C>A (p.Pro1052Thr)
c.4432C>A (p.Pro1478Thr)
10g.75030321C>GCA377301426DUSP29,KAT6Bc.5497C>G (p.Pro1833Ala)
c.4948C>G (p.Pro1650Ala)
c.4621C>G (p.Pro1541Ala)
n.577-3727G>C
c.*3622-3727G>C (n.*3622-3727G>C)
c.5335C>G (p.Pro1779Ala)
c.4459C>G (p.Pro1487Ala)
c.3808C>G (p.Pro1270Ala)
c.3412C>G (p.Pro1138Ala)
c.3154C>G (p.Pro1052Ala)
c.4432C>G (p.Pro1478Ala)
10g.75030321C>TCA377301428DUSP29,KAT6Bc.5497C>T (p.Pro1833Ser)
c.4948C>T (p.Pro1650Ser)
c.4621C>T (p.Pro1541Ser)
n.577-3727G>A
c.*3622-3727G>A (n.*3622-3727G>A)
c.5335C>T (p.Pro1779Ser)
c.4459C>T (p.Pro1487Ser)
c.3808C>T (p.Pro1270Ser)
c.3412C>T (p.Pro1138Ser)
c.3154C>T (p.Pro1052Ser)
c.4432C>T (p.Pro1478Ser)
10g.75030322C>ACA377301431DUSP29,KAT6Bc.5498C>A (p.Pro1833His)
c.4949C>A (p.Pro1650His)
c.4622C>A (p.Pro1541His)
n.577-3728G>T
c.*3622-3728G>T (n.*3622-3728G>T)
c.5336C>A (p.Pro1779His)
c.4460C>A (p.Pro1487His)
c.3809C>A (p.Pro1270His)
c.3413C>A (p.Pro1138His)
c.3155C>A (p.Pro1052His)
c.4433C>A (p.Pro1478His)
10g.75030322C>GCA377301432DUSP29,KAT6Bc.5498C>G (p.Pro1833Arg)
c.4949C>G (p.Pro1650Arg)
c.4622C>G (p.Pro1541Arg)
n.577-3728G>C
c.*3622-3728G>C (n.*3622-3728G>C)
c.5336C>G (p.Pro1779Arg)
c.4460C>G (p.Pro1487Arg)
c.3809C>G (p.Pro1270Arg)
c.3413C>G (p.Pro1138Arg)
c.3155C>G (p.Pro1052Arg)
c.4433C>G (p.Pro1478Arg)
10g.75030322C>TCA377301434DUSP29,KAT6Bc.5498C>T (p.Pro1833Leu)
c.4949C>T (p.Pro1650Leu)
c.4622C>T (p.Pro1541Leu)
n.577-3728G>A
c.*3622-3728G>A (n.*3622-3728G>A)
c.5336C>T (p.Pro1779Leu)
c.4460C>T (p.Pro1487Leu)
c.3809C>T (p.Pro1270Leu)
c.3413C>T (p.Pro1138Leu)
c.3155C>T (p.Pro1052Leu)
c.4433C>T (p.Pro1478Leu)
10g.75030323T>ACA470300176DUSP29,KAT6Bc.5499T>A (p.Pro1833=)
c.4950T>A (p.Pro1650=)
c.4623T>A (p.Pro1541=)
n.577-3729A>T
c.*3622-3729A>T (n.*3622-3729A>T)
c.5337T>A (p.Pro1779=)
c.4461T>A (p.Pro1487=)
c.3810T>A (p.Pro1270=)
c.3414T>A (p.Pro1138=)
c.3156T>A (p.Pro1052=)
c.4434T>A (p.Pro1478=)
10g.75030323T>CCA470300178DUSP29,KAT6Bc.5499T>C (p.Pro1833=)
c.4950T>C (p.Pro1650=)
c.4623T>C (p.Pro1541=)
n.577-3729A>G
c.*3622-3729A>G (n.*3622-3729A>G)
c.5337T>C (p.Pro1779=)
c.4461T>C (p.Pro1487=)
c.3810T>C (p.Pro1270=)
c.3414T>C (p.Pro1138=)
c.3156T>C (p.Pro1052=)
c.4434T>C (p.Pro1478=)
10g.75030323T>GCA470300179DUSP29,KAT6Bc.5499T>G (p.Pro1833=)
c.4950T>G (p.Pro1650=)
c.4623T>G (p.Pro1541=)
n.577-3729A>C
c.*3622-3729A>C (n.*3622-3729A>C)
c.5337T>G (p.Pro1779=)
c.4461T>G (p.Pro1487=)
c.3810T>G (p.Pro1270=)
c.3414T>G (p.Pro1138=)
c.3156T>G (p.Pro1052=)
c.4434T>G (p.Pro1478=)

Number of alleles fetched