Chr Mutation (hg38) CAid Gene Transcript Linkouts
10g.75028465_75028469delinsTCCCGCA1920306341DUSP29,KAT6Bc.3665-24_3665-20delinsTCCCG (n.3665-24_3665-20delinsTCCCG)
c.3116-24_3116-20delinsTCCCG (n.3116-24_3116-20delinsTCCCG)
c.2789-24_2789-20delinsTCCCG (n.2789-24_2789-20delinsTCCCG)
c.2600-24_2600-20delinsTCCCG (n.2600-24_2600-20delinsTCCCG)
n.577-1875_577-1871delinsCGGGA
c.*3622-1875_*3622-1871delinsCGGGA (n.*3622-1875_*3622-1871delinsCGGGA)
c.3503-24_3503-20delinsTCCCG (n.3503-24_3503-20delinsTCCCG)
c.2627-24_2627-20delinsTCCCG (n.2627-24_2627-20delinsTCCCG)
c.1976-24_1976-20delinsTCCCG (n.1976-24_1976-20delinsTCCCG)
c.1580-24_1580-20delinsTCCCG (n.1580-24_1580-20delinsTCCCG)
c.1322-24_1322-20delinsTCCCG (n.1322-24_1322-20delinsTCCCG)
10g.75028468delCA930018353DUSP29,KAT6Bc.3665-21del (n.3665-21del)
c.3116-21del (n.3116-21del)
c.2789-21del (n.2789-21del)
c.2600-21del (n.2600-21del)
n.577-1872del
c.*3622-1872del (n.*3622-1872del)
c.3503-21del (n.3503-21del)
c.2627-21del (n.2627-21del)
c.1976-21del (n.1976-21del)
c.1580-21del (n.1580-21del)
c.1322-21del (n.1322-21del)
 dbSNP gnomAD v3 gnomAD v4
10g.75028466_75028469delCA594709527DUSP29,KAT6Bc.3665-23_3665-20del (n.3665-23_3665-20del)
c.3116-23_3116-20del (n.3116-23_3116-20del)
c.2789-23_2789-20del (n.2789-23_2789-20del)
c.2600-23_2600-20del (n.2600-23_2600-20del)
n.577-1875_577-1872del
c.*3622-1875_*3622-1872del (n.*3622-1875_*3622-1872del)
c.3503-23_3503-20del (n.3503-23_3503-20del)
c.2627-23_2627-20del (n.2627-23_2627-20del)
c.1976-23_1976-20del (n.1976-23_1976-20del)
c.1580-23_1580-20del (n.1580-23_1580-20del)
c.1322-23_1322-20del (n.1322-23_1322-20del)
 dbSNP gnomAD v2 gnomAD v4
10g.75028467C=CA1920306344DUSP29,KAT6Bc.3665-22C= (n.3665-22C=)
c.3116-22C= (n.3116-22C=)
c.2789-22C= (n.2789-22C=)
c.2600-22C= (n.2600-22C=)
n.577-1873G=
c.*3622-1873G= (n.*3622-1873G=)
c.3503-22C= (n.3503-22C=)
c.2627-22C= (n.2627-22C=)
c.1976-22C= (n.1976-22C=)
c.1580-22C= (n.1580-22C=)
c.1322-22C= (n.1322-22C=)
10g.75028467C>TCA209708881DUSP29,KAT6Bc.3665-22C>T (n.3665-22C>T)
c.3116-22C>T (n.3116-22C>T)
c.2789-22C>T (n.2789-22C>T)
c.2600-22C>T (n.2600-22C>T)
n.577-1873G>A
c.*3622-1873G>A (n.*3622-1873G>A)
c.3503-22C>T (n.3503-22C>T)
c.2627-22C>T (n.2627-22C>T)
c.1976-22C>T (n.1976-22C>T)
c.1580-22C>T (n.1580-22C>T)
c.1322-22C>T (n.1322-22C>T)
 dbSNP gnomAD v2 gnomAD v4
10g.75028468C=CA1920306345DUSP29,KAT6Bc.3665-21C= (n.3665-21C=)
c.3116-21C= (n.3116-21C=)
c.2789-21C= (n.2789-21C=)
c.2600-21C= (n.2600-21C=)
n.577-1874G=
c.*3622-1874G= (n.*3622-1874G=)
c.3503-21C= (n.3503-21C=)
c.2627-21C= (n.2627-21C=)
c.1976-21C= (n.1976-21C=)
c.1580-21C= (n.1580-21C=)
c.1322-21C= (n.1322-21C=)
10g.75028468C>TCA5564877DUSP29,KAT6Bc.3665-21C>T (n.3665-21C>T)
c.3116-21C>T (n.3116-21C>T)
c.2789-21C>T (n.2789-21C>T)
c.2600-21C>T (n.2600-21C>T)
n.577-1874G>A
c.*3622-1874G>A (n.*3622-1874G>A)
c.3503-21C>T (n.3503-21C>T)
c.2627-21C>T (n.2627-21C>T)
c.1976-21C>T (n.1976-21C>T)
c.1580-21C>T (n.1580-21C>T)
c.1322-21C>T (n.1322-21C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.75028468_75028469delinsCGCA1920306346DUSP29,KAT6Bc.3665-21_3665-20delinsCG (n.3665-21_3665-20delinsCG)
c.3116-21_3116-20delinsCG (n.3116-21_3116-20delinsCG)
c.2789-21_2789-20delinsCG (n.2789-21_2789-20delinsCG)
c.2600-21_2600-20delinsCG (n.2600-21_2600-20delinsCG)
n.577-1875_577-1874delinsCG
c.*3622-1875_*3622-1874delinsCG (n.*3622-1875_*3622-1874delinsCG)
c.3503-21_3503-20delinsCG (n.3503-21_3503-20delinsCG)
c.2627-21_2627-20delinsCG (n.2627-21_2627-20delinsCG)
c.1976-21_1976-20delinsCG (n.1976-21_1976-20delinsCG)
c.1580-21_1580-20delinsCG (n.1580-21_1580-20delinsCG)
c.1322-21_1322-20delinsCG (n.1322-21_1322-20delinsCG)
10g.75028469delCA594709528DUSP29,KAT6Bc.3665-20del (n.3665-20del)
c.3116-20del (n.3116-20del)
c.2789-20del (n.2789-20del)
c.2600-20del (n.2600-20del)
n.577-1875del
c.*3622-1875del (n.*3622-1875del)
c.3503-20del (n.3503-20del)
c.2627-20del (n.2627-20del)
c.1976-20del (n.1976-20del)
c.1580-20del (n.1580-20del)
c.1322-20del (n.1322-20del)
 ClinVar dbSNP gnomAD v2 gnomAD v4
10g.75028469G>ACA594709529DUSP29,KAT6Bc.3665-20G>A (n.3665-20G>A)
c.3116-20G>A (n.3116-20G>A)
c.2789-20G>A (n.2789-20G>A)
c.2600-20G>A (n.2600-20G>A)
n.577-1875C>T
c.*3622-1875C>T (n.*3622-1875C>T)
c.3503-20G>A (n.3503-20G>A)
c.2627-20G>A (n.2627-20G>A)
c.1976-20G>A (n.1976-20G>A)
c.1580-20G>A (n.1580-20G>A)
c.1322-20G>A (n.1322-20G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.75028469G>CCA2722050508DUSP29,KAT6Bc.3665-20G>C (n.3665-20G>C)
c.3116-20G>C (n.3116-20G>C)
c.2789-20G>C (n.2789-20G>C)
c.2600-20G>C (n.2600-20G>C)
n.577-1875C>G
c.*3622-1875C>G (n.*3622-1875C>G)
c.3503-20G>C (n.3503-20G>C)
c.2627-20G>C (n.2627-20G>C)
c.1976-20G>C (n.1976-20G>C)
c.1580-20G>C (n.1580-20G>C)
c.1322-20G>C (n.1322-20G>C)
 dbSNP
10g.75028469G=CA1920306347DUSP29,KAT6Bc.3665-20G= (n.3665-20G=)
c.3116-20G= (n.3116-20G=)
c.2789-20G= (n.2789-20G=)
c.2600-20G= (n.2600-20G=)
n.577-1875C=
c.*3622-1875C= (n.*3622-1875C=)
c.3503-20G= (n.3503-20G=)
c.2627-20G= (n.2627-20G=)
c.1976-20G= (n.1976-20G=)
c.1580-20G= (n.1580-20G=)
c.1322-20G= (n.1322-20G=)
10g.75028469G>TCA2788571368DUSP29,KAT6Bc.3665-20G>T (n.3665-20G>T)
c.3116-20G>T (n.3116-20G>T)
c.2789-20G>T (n.2789-20G>T)
c.2600-20G>T (n.2600-20G>T)
n.577-1875C>A
c.*3622-1875C>A (n.*3622-1875C>A)
c.3503-20G>T (n.3503-20G>T)
c.2627-20G>T (n.2627-20G>T)
c.1976-20G>T (n.1976-20G>T)
c.1580-20G>T (n.1580-20G>T)
c.1322-20G>T (n.1322-20G>T)
10g.75028470T>CCA5564878DUSP29,KAT6Bc.3665-19T>C (n.3665-19T>C)
c.3116-19T>C (n.3116-19T>C)
c.2789-19T>C (n.2789-19T>C)
c.2600-19T>C (n.2600-19T>C)
n.577-1876A>G
c.*3622-1876A>G (n.*3622-1876A>G)
c.3503-19T>C (n.3503-19T>C)
c.2627-19T>C (n.2627-19T>C)
c.1976-19T>C (n.1976-19T>C)
c.1580-19T>C (n.1580-19T>C)
c.1322-19T>C (n.1322-19T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.75028470T=CA1920306348DUSP29,KAT6Bc.3665-19T= (n.3665-19T=)
c.3116-19T= (n.3116-19T=)
c.2789-19T= (n.2789-19T=)
c.2600-19T= (n.2600-19T=)
n.577-1876A=
c.*3622-1876A= (n.*3622-1876A=)
c.3503-19T= (n.3503-19T=)
c.2627-19T= (n.2627-19T=)
c.1976-19T= (n.1976-19T=)
c.1580-19T= (n.1580-19T=)
c.1322-19T= (n.1322-19T=)
10g.75028474_75028475insTTTTTTCA594709530DUSP29,KAT6Bc.3665-15_3665-14insTTTTTT (n.3665-15_3665-14insTTTTTT)
c.3116-15_3116-14insTTTTTT (n.3116-15_3116-14insTTTTTT)
c.2789-15_2789-14insTTTTTT (n.2789-15_2789-14insTTTTTT)
c.2600-15_2600-14insTTTTTT (n.2600-15_2600-14insTTTTTT)
n.577-1876_577-1875insAAAAAA
c.*3622-1876_*3622-1875insAAAAAA (n.*3622-1876_*3622-1875insAAAAAA)
c.3503-15_3503-14insTTTTTT (n.3503-15_3503-14insTTTTTT)
c.2627-15_2627-14insTTTTTT (n.2627-15_2627-14insTTTTTT)
c.1976-15_1976-14insTTTTTT (n.1976-15_1976-14insTTTTTT)
c.1580-15_1580-14insTTTTTT (n.1580-15_1580-14insTTTTTT)
c.1322-15_1322-14insTTTTTT (n.1322-15_1322-14insTTTTTT)
 dbSNP gnomAD v2
10g.75028474dupCA2832556284DUSP29,KAT6Bc.3665-15dup (n.3665-15dup)
c.3116-15dup (n.3116-15dup)
c.2789-15dup (n.2789-15dup)
c.2600-15dup (n.2600-15dup)
n.577-1876dup
c.*3622-1876dup (n.*3622-1876dup)
c.3503-15dup (n.3503-15dup)
c.2627-15dup (n.2627-15dup)
c.1976-15dup (n.1976-15dup)
c.1580-15dup (n.1580-15dup)
c.1322-15dup (n.1322-15dup)
10g.75028473T>CCA594709531DUSP29,KAT6Bc.3665-16T>C (n.3665-16T>C)
c.3116-16T>C (n.3116-16T>C)
c.2789-16T>C (n.2789-16T>C)
c.2600-16T>C (n.2600-16T>C)
n.577-1879A>G
c.*3622-1879A>G (n.*3622-1879A>G)
c.3503-16T>C (n.3503-16T>C)
c.2627-16T>C (n.2627-16T>C)
c.1976-16T>C (n.1976-16T>C)
c.1580-16T>C (n.1580-16T>C)
c.1322-16T>C (n.1322-16T>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.75028473T=CA1920306349DUSP29,KAT6Bc.3665-16T= (n.3665-16T=)
c.3116-16T= (n.3116-16T=)
c.2789-16T= (n.2789-16T=)
c.2600-16T= (n.2600-16T=)
n.577-1879A=
c.*3622-1879A= (n.*3622-1879A=)
c.3503-16T= (n.3503-16T=)
c.2627-16T= (n.2627-16T=)
c.1976-16T= (n.1976-16T=)
c.1580-16T= (n.1580-16T=)
c.1322-16T= (n.1322-16T=)
10g.75028475G>ACA930018359DUSP29,KAT6Bc.3665-14G>A (n.3665-14G>A)
c.3116-14G>A (n.3116-14G>A)
c.2789-14G>A (n.2789-14G>A)
c.2600-14G>A (n.2600-14G>A)
n.577-1881C>T
c.*3622-1881C>T (n.*3622-1881C>T)
c.3503-14G>A (n.3503-14G>A)
c.2627-14G>A (n.2627-14G>A)
c.1976-14G>A (n.1976-14G>A)
c.1580-14G>A (n.1580-14G>A)
c.1322-14G>A (n.1322-14G>A)
 ClinVar dbSNP gnomAD v4
10g.75028475G=CA1920306350DUSP29,KAT6Bc.3665-14G= (n.3665-14G=)
c.3116-14G= (n.3116-14G=)
c.2789-14G= (n.2789-14G=)
c.2600-14G= (n.2600-14G=)
n.577-1881C=
c.*3622-1881C= (n.*3622-1881C=)
c.3503-14G= (n.3503-14G=)
c.2627-14G= (n.2627-14G=)
c.1976-14G= (n.1976-14G=)
c.1580-14G= (n.1580-14G=)
c.1322-14G= (n.1322-14G=)
10g.75028475G>TCA594709532DUSP29,KAT6Bc.3665-14G>T (n.3665-14G>T)
c.3116-14G>T (n.3116-14G>T)
c.2789-14G>T (n.2789-14G>T)
c.2600-14G>T (n.2600-14G>T)
n.577-1881C>A
c.*3622-1881C>A (n.*3622-1881C>A)
c.3503-14G>T (n.3503-14G>T)
c.2627-14G>T (n.2627-14G>T)
c.1976-14G>T (n.1976-14G>T)
c.1580-14G>T (n.1580-14G>T)
c.1322-14G>T (n.1322-14G>T)
 dbSNP gnomAD v2 gnomAD v4
10g.75028476T>CCA2609745689DUSP29,KAT6Bc.3665-13T>C (n.3665-13T>C)
c.3116-13T>C (n.3116-13T>C)
c.2789-13T>C (n.2789-13T>C)
c.2600-13T>C (n.2600-13T>C)
n.577-1882A>G
c.*3622-1882A>G (n.*3622-1882A>G)
c.3503-13T>C (n.3503-13T>C)
c.2627-13T>C (n.2627-13T>C)
c.1976-13T>C (n.1976-13T>C)
c.1580-13T>C (n.1580-13T>C)
c.1322-13T>C (n.1322-13T>C)
 gnomAD v4
10g.75028477C>ACA653653662DUSP29,KAT6Bc.3665-12C>A (n.3665-12C>A)
c.3116-12C>A (n.3116-12C>A)
c.2789-12C>A (n.2789-12C>A)
c.2600-12C>A (n.2600-12C>A)
n.577-1883G>T
c.*3622-1883G>T (n.*3622-1883G>T)
c.3503-12C>A (n.3503-12C>A)
c.2627-12C>A (n.2627-12C>A)
c.1976-12C>A (n.1976-12C>A)
c.1580-12C>A (n.1580-12C>A)
c.1322-12C>A (n.1322-12C>A)
 COSMIC
10g.75028477C=CA1920306351DUSP29,KAT6Bc.3665-12C= (n.3665-12C=)
c.3116-12C= (n.3116-12C=)
c.2789-12C= (n.2789-12C=)
c.2600-12C= (n.2600-12C=)
n.577-1883G=
c.*3622-1883G= (n.*3622-1883G=)
c.3503-12C= (n.3503-12C=)
c.2627-12C= (n.2627-12C=)
c.1976-12C= (n.1976-12C=)
c.1580-12C= (n.1580-12C=)
c.1322-12C= (n.1322-12C=)
10g.75028477C>TCA5564879DUSP29,KAT6Bc.3665-12C>T (n.3665-12C>T)
c.3116-12C>T (n.3116-12C>T)
c.2789-12C>T (n.2789-12C>T)
c.2600-12C>T (n.2600-12C>T)
n.577-1883G>A
c.*3622-1883G>A (n.*3622-1883G>A)
c.3503-12C>T (n.3503-12C>T)
c.2627-12C>T (n.2627-12C>T)
c.1976-12C>T (n.1976-12C>T)
c.1580-12C>T (n.1580-12C>T)
c.1322-12C>T (n.1322-12C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.75028479C>TCA2609745690DUSP29,KAT6Bc.3665-10C>T (n.3665-10C>T)
c.3116-10C>T (n.3116-10C>T)
c.2789-10C>T (n.2789-10C>T)
c.2600-10C>T (n.2600-10C>T)
n.577-1885G>A
c.*3622-1885G>A (n.*3622-1885G>A)
c.3503-10C>T (n.3503-10C>T)
c.2627-10C>T (n.2627-10C>T)
c.1976-10C>T (n.1976-10C>T)
c.1580-10C>T (n.1580-10C>T)
c.1322-10C>T (n.1322-10C>T)
 ClinVar gnomAD v4
10g.75028481T>CCA2609745691DUSP29,KAT6Bc.3665-8T>C (n.3665-8T>C)
c.3116-8T>C (n.3116-8T>C)
c.2789-8T>C (n.2789-8T>C)
c.2600-8T>C (n.2600-8T>C)
n.577-1887A>G
c.*3622-1887A>G (n.*3622-1887A>G)
c.3503-8T>C (n.3503-8T>C)
c.2627-8T>C (n.2627-8T>C)
c.1976-8T>C (n.1976-8T>C)
c.1580-8T>C (n.1580-8T>C)
c.1322-8T>C (n.1322-8T>C)
 gnomAD v4
10g.75028483A=CA1920306352DUSP29,KAT6Bc.3665-6A= (n.3665-6A=)
c.3116-6A= (n.3116-6A=)
c.2789-6A= (n.2789-6A=)
c.2600-6A= (n.2600-6A=)
n.577-1889T=
c.*3622-1889T= (n.*3622-1889T=)
c.3503-6A= (n.3503-6A=)
c.2627-6A= (n.2627-6A=)
c.1976-6A= (n.1976-6A=)
c.1580-6A= (n.1580-6A=)
c.1322-6A= (n.1322-6A=)
10g.75028483A>CCA1920306353DUSP29,KAT6Bc.3665-6A>C (n.3665-6A>C)
c.3116-6A>C (n.3116-6A>C)
c.2789-6A>C (n.2789-6A>C)
c.2600-6A>C (n.2600-6A>C)
n.577-1889T>G
c.*3622-1889T>G (n.*3622-1889T>G)
c.3503-6A>C (n.3503-6A>C)
c.2627-6A>C (n.2627-6A>C)
c.1976-6A>C (n.1976-6A>C)
c.1580-6A>C (n.1580-6A>C)
c.1322-6A>C (n.1322-6A>C)
 dbSNP gnomAD v4
10g.75028483A>GCA1920306354DUSP29,KAT6Bc.3665-6A>G (n.3665-6A>G)
c.3116-6A>G (n.3116-6A>G)
c.2789-6A>G (n.2789-6A>G)
c.2600-6A>G (n.2600-6A>G)
n.577-1889T>C
c.*3622-1889T>C (n.*3622-1889T>C)
c.3503-6A>G (n.3503-6A>G)
c.2627-6A>G (n.2627-6A>G)
c.1976-6A>G (n.1976-6A>G)
c.1580-6A>G (n.1580-6A>G)
c.1322-6A>G (n.1322-6A>G)
 dbSNP gnomAD v4
10g.75028484C>TCA2609745692DUSP29,KAT6Bc.3665-5C>T (n.3665-5C>T)
c.3116-5C>T (n.3116-5C>T)
c.2789-5C>T (n.2789-5C>T)
c.2600-5C>T (n.2600-5C>T)
n.577-1890G>A
c.*3622-1890G>A (n.*3622-1890G>A)
c.3503-5C>T (n.3503-5C>T)
c.2627-5C>T (n.2627-5C>T)
c.1976-5C>T (n.1976-5C>T)
c.1580-5C>T (n.1580-5C>T)
c.1322-5C>T (n.1322-5C>T)
 gnomAD v4
10g.75028487A>CCA377291125DUSP29,KAT6Bc.3665-2A>C (n.3665-2A>C)
c.3116-2A>C (n.3116-2A>C)
c.2789-2A>C (n.2789-2A>C)
c.2600-2A>C (n.2600-2A>C)
n.577-1893T>G
c.*3622-1893T>G (n.*3622-1893T>G)
c.3503-2A>C (n.3503-2A>C)
c.2627-2A>C (n.2627-2A>C)
c.1976-2A>C (n.1976-2A>C)
c.1580-2A>C (n.1580-2A>C)
c.1322-2A>C (n.1322-2A>C)
10g.75028487A>GCA377291128DUSP29,KAT6Bc.3665-2A>G (n.3665-2A>G)
c.3116-2A>G (n.3116-2A>G)
c.2789-2A>G (n.2789-2A>G)
c.2600-2A>G (n.2600-2A>G)
n.577-1893T>C
c.*3622-1893T>C (n.*3622-1893T>C)
c.3503-2A>G (n.3503-2A>G)
c.2627-2A>G (n.2627-2A>G)
c.1976-2A>G (n.1976-2A>G)
c.1580-2A>G (n.1580-2A>G)
c.1322-2A>G (n.1322-2A>G)
10g.75028487A>TCA377291130DUSP29,KAT6Bc.3665-2A>T (n.3665-2A>T)
c.3116-2A>T (n.3116-2A>T)
c.2789-2A>T (n.2789-2A>T)
c.2600-2A>T (n.2600-2A>T)
n.577-1893T>A
c.*3622-1893T>A (n.*3622-1893T>A)
c.3503-2A>T (n.3503-2A>T)
c.2627-2A>T (n.2627-2A>T)
c.1976-2A>T (n.1976-2A>T)
c.1580-2A>T (n.1580-2A>T)
c.1322-2A>T (n.1322-2A>T)
10g.75028488G>ACA377291139DUSP29,KAT6Bc.3665-1G>A (n.3665-1G>A)
c.3116-1G>A (n.3116-1G>A)
c.2789-1G>A (n.2789-1G>A)
c.2600-1G>A (n.2600-1G>A)
n.577-1894C>T
c.*3622-1894C>T (n.*3622-1894C>T)
c.3503-1G>A (n.3503-1G>A)
c.2627-1G>A (n.2627-1G>A)
c.1976-1G>A (n.1976-1G>A)
c.1580-1G>A (n.1580-1G>A)
c.1322-1G>A (n.1322-1G>A)
10g.75028488G>CCA377291133DUSP29,KAT6Bc.3665-1G>C (n.3665-1G>C)
c.3116-1G>C (n.3116-1G>C)
c.2789-1G>C (n.2789-1G>C)
c.2600-1G>C (n.2600-1G>C)
n.577-1894C>G
c.*3622-1894C>G (n.*3622-1894C>G)
c.3503-1G>C (n.3503-1G>C)
c.2627-1G>C (n.2627-1G>C)
c.1976-1G>C (n.1976-1G>C)
c.1580-1G>C (n.1580-1G>C)
c.1322-1G>C (n.1322-1G>C)
 ClinVar dbSNP
10g.75028488G>TCA377291136DUSP29,KAT6Bc.3665-1G>T (n.3665-1G>T)
c.3116-1G>T (n.3116-1G>T)
c.2789-1G>T (n.2789-1G>T)
c.2600-1G>T (n.2600-1G>T)
n.577-1894C>A
c.*3622-1894C>A (n.*3622-1894C>A)
c.3503-1G>T (n.3503-1G>T)
c.2627-1G>T (n.2627-1G>T)
c.1976-1G>T (n.1976-1G>T)
c.1580-1G>T (n.1580-1G>T)
c.1322-1G>T (n.1322-1G>T)
10g.75028489A>CCA377291142DUSP29,KAT6Bc.3665A>C (p.Asn1222Thr)
c.3116A>C (p.Asn1039Thr)
c.2789A>C (p.Asn930Thr)
c.2600A>C (p.Asn867Thr)
n.577-1895T>G
c.*3622-1895T>G (n.*3622-1895T>G)
c.3503A>C (p.Asn1168Thr)
c.2627A>C (p.Asn876Thr)
c.1976A>C (p.Asn659Thr)
c.1580A>C (p.Asn527Thr)
c.1322A>C (p.Asn441Thr)
10g.75028489A>GCA377291145DUSP29,KAT6Bc.3665A>G (p.Asn1222Ser)
c.3116A>G (p.Asn1039Ser)
c.2789A>G (p.Asn930Ser)
c.2600A>G (p.Asn867Ser)
n.577-1895T>C
c.*3622-1895T>C (n.*3622-1895T>C)
c.3503A>G (p.Asn1168Ser)
c.2627A>G (p.Asn876Ser)
c.1976A>G (p.Asn659Ser)
c.1580A>G (p.Asn527Ser)
c.1322A>G (p.Asn441Ser)
 dbSNP
10g.75028489A>TCA377291148DUSP29,KAT6Bc.3665A>T (p.Asn1222Ile)
c.3116A>T (p.Asn1039Ile)
c.2789A>T (p.Asn930Ile)
c.2600A>T (p.Asn867Ile)
n.577-1895T>A
c.*3622-1895T>A (n.*3622-1895T>A)
c.3503A>T (p.Asn1168Ile)
c.2627A>T (p.Asn876Ile)
c.1976A>T (p.Asn659Ile)
c.1580A>T (p.Asn527Ile)
c.1322A>T (p.Asn441Ile)
10g.75028490C>ACA377291151DUSP29,KAT6Bc.3666C>A (p.Asn1222Lys)
c.3117C>A (p.Asn1039Lys)
c.2790C>A (p.Asn930Lys)
c.2601C>A (p.Asn867Lys)
n.577-1896G>T
c.*3622-1896G>T (n.*3622-1896G>T)
c.3504C>A (p.Asn1168Lys)
c.2628C>A (p.Asn876Lys)
c.1977C>A (p.Asn659Lys)
c.1581C>A (p.Asn527Lys)
c.1323C>A (p.Asn441Lys)
10g.75028490C>GCA377291153DUSP29,KAT6Bc.3666C>G (p.Asn1222Lys)
c.3117C>G (p.Asn1039Lys)
c.2790C>G (p.Asn930Lys)
c.2601C>G (p.Asn867Lys)
n.577-1896G>C
c.*3622-1896G>C (n.*3622-1896G>C)
c.3504C>G (p.Asn1168Lys)
c.2628C>G (p.Asn876Lys)
c.1977C>G (p.Asn659Lys)
c.1581C>G (p.Asn527Lys)
c.1323C>G (p.Asn441Lys)
10g.75028490C>TCA470299534DUSP29,KAT6Bc.3666C>T (p.Asn1222=)
c.3117C>T (p.Asn1039=)
c.2790C>T (p.Asn930=)
c.2601C>T (p.Asn867=)
n.577-1896G>A
c.*3622-1896G>A (n.*3622-1896G>A)
c.3504C>T (p.Asn1168=)
c.2628C>T (p.Asn876=)
c.1977C>T (p.Asn659=)
c.1581C>T (p.Asn527=)
c.1323C>T (p.Asn441=)
10g.75028491A>CCA377291157DUSP29,KAT6Bc.3667A>C (p.Asn1223His)
c.3118A>C (p.Asn1040His)
c.2791A>C (p.Asn931His)
c.2602A>C (p.Asn868His)
n.577-1897T>G
c.*3622-1897T>G (n.*3622-1897T>G)
c.3505A>C (p.Asn1169His)
c.2629A>C (p.Asn877His)
c.1978A>C (p.Asn660His)
c.1582A>C (p.Asn528His)
c.1324A>C (p.Asn442His)
10g.75028491A>GCA377291162DUSP29,KAT6Bc.3667A>G (p.Asn1223Asp)
c.3118A>G (p.Asn1040Asp)
c.2791A>G (p.Asn931Asp)
c.2602A>G (p.Asn868Asp)
n.577-1897T>C
c.*3622-1897T>C (n.*3622-1897T>C)
c.3505A>G (p.Asn1169Asp)
c.2629A>G (p.Asn877Asp)
c.1978A>G (p.Asn660Asp)
c.1582A>G (p.Asn528Asp)
c.1324A>G (p.Asn442Asp)
10g.75028491A>TCA377291159DUSP29,KAT6Bc.3667A>T (p.Asn1223Tyr)
c.3118A>T (p.Asn1040Tyr)
c.2791A>T (p.Asn931Tyr)
c.2602A>T (p.Asn868Tyr)
n.577-1897T>A
c.*3622-1897T>A (n.*3622-1897T>A)
c.3505A>T (p.Asn1169Tyr)
c.2629A>T (p.Asn877Tyr)
c.1978A>T (p.Asn660Tyr)
c.1582A>T (p.Asn528Tyr)
c.1324A>T (p.Asn442Tyr)
10g.75028492A>CCA377291165DUSP29,KAT6Bc.3668A>C (p.Asn1223Thr)
c.3119A>C (p.Asn1040Thr)
c.2792A>C (p.Asn931Thr)
c.2603A>C (p.Asn868Thr)
n.577-1898T>G
c.*3622-1898T>G (n.*3622-1898T>G)
c.3506A>C (p.Asn1169Thr)
c.2630A>C (p.Asn877Thr)
c.1979A>C (p.Asn660Thr)
c.1583A>C (p.Asn528Thr)
c.1325A>C (p.Asn442Thr)
10g.75028492A>GCA377291167DUSP29,KAT6Bc.3668A>G (p.Asn1223Ser)
c.3119A>G (p.Asn1040Ser)
c.2792A>G (p.Asn931Ser)
c.2603A>G (p.Asn868Ser)
n.577-1898T>C
c.*3622-1898T>C (n.*3622-1898T>C)
c.3506A>G (p.Asn1169Ser)
c.2630A>G (p.Asn877Ser)
c.1979A>G (p.Asn660Ser)
c.1583A>G (p.Asn528Ser)
c.1325A>G (p.Asn442Ser)
 ClinVar
10g.75028492A>TCA377291169DUSP29,KAT6Bc.3668A>T (p.Asn1223Ile)
c.3119A>T (p.Asn1040Ile)
c.2792A>T (p.Asn931Ile)
c.2603A>T (p.Asn868Ile)
n.577-1898T>A
c.*3622-1898T>A (n.*3622-1898T>A)
c.3506A>T (p.Asn1169Ile)
c.2630A>T (p.Asn877Ile)
c.1979A>T (p.Asn660Ile)
c.1583A>T (p.Asn528Ile)
c.1325A>T (p.Asn442Ile)
10g.75028493T>ACA377291173DUSP29,KAT6Bc.3669T>A (p.Asn1223Lys)
c.3120T>A (p.Asn1040Lys)
c.2793T>A (p.Asn931Lys)
c.2604T>A (p.Asn868Lys)
n.577-1899A>T
c.*3622-1899A>T (n.*3622-1899A>T)
c.3507T>A (p.Asn1169Lys)
c.2631T>A (p.Asn877Lys)
c.1980T>A (p.Asn660Lys)
c.1584T>A (p.Asn528Lys)
c.1326T>A (p.Asn442Lys)
10g.75028493T>CCA470299535DUSP29,KAT6Bc.3669T>C (p.Asn1223=)
c.3120T>C (p.Asn1040=)
c.2793T>C (p.Asn931=)
c.2604T>C (p.Asn868=)
n.577-1899A>G
c.*3622-1899A>G (n.*3622-1899A>G)
c.3507T>C (p.Asn1169=)
c.2631T>C (p.Asn877=)
c.1980T>C (p.Asn660=)
c.1584T>C (p.Asn528=)
c.1326T>C (p.Asn442=)
 gnomAD v4
10g.75028493T>GCA377291175DUSP29,KAT6Bc.3669T>G (p.Asn1223Lys)
c.3120T>G (p.Asn1040Lys)
c.2793T>G (p.Asn931Lys)
c.2604T>G (p.Asn868Lys)
n.577-1899A>C
c.*3622-1899A>C (n.*3622-1899A>C)
c.3507T>G (p.Asn1169Lys)
c.2631T>G (p.Asn877Lys)
c.1980T>G (p.Asn660Lys)
c.1584T>G (p.Asn528Lys)
c.1326T>G (p.Asn442Lys)
10g.75028494A=CA1920306355DUSP29,KAT6Bc.3670A= (p.Met1224=)
c.3121A= (p.Met1041=)
c.2794A= (p.Met932=)
c.2605A= (p.Met869=)
n.577-1900T=
c.*3622-1900T= (n.*3622-1900T=)
c.3508A= (p.Met1170=)
c.2632A= (p.Met878=)
c.1981A= (p.Met661=)
c.1585A= (p.Met529=)
c.1327A= (p.Met443=)
10g.75028494A>CCA377291181DUSP29,KAT6Bc.3670A>C (p.Met1224Leu)
c.3121A>C (p.Met1041Leu)
c.2794A>C (p.Met932Leu)
c.2605A>C (p.Met869Leu)
n.577-1900T>G
c.*3622-1900T>G (n.*3622-1900T>G)
c.3508A>C (p.Met1170Leu)
c.2632A>C (p.Met878Leu)
c.1981A>C (p.Met661Leu)
c.1585A>C (p.Met529Leu)
c.1327A>C (p.Met443Leu)
10g.75028494A>GCA377291183DUSP29,KAT6Bc.3670A>G (p.Met1224Val)
c.3121A>G (p.Met1041Val)
c.2794A>G (p.Met932Val)
c.2605A>G (p.Met869Val)
n.577-1900T>C
c.*3622-1900T>C (n.*3622-1900T>C)
c.3508A>G (p.Met1170Val)
c.2632A>G (p.Met878Val)
c.1981A>G (p.Met661Val)
c.1585A>G (p.Met529Val)
c.1327A>G (p.Met443Val)
 dbSNP
10g.75028494A>TCA377291185DUSP29,KAT6Bc.3670A>T (p.Met1224Leu)
c.3121A>T (p.Met1041Leu)
c.2794A>T (p.Met932Leu)
c.2605A>T (p.Met869Leu)
n.577-1900T>A
c.*3622-1900T>A (n.*3622-1900T>A)
c.3508A>T (p.Met1170Leu)
c.2632A>T (p.Met878Leu)
c.1981A>T (p.Met661Leu)
c.1585A>T (p.Met529Leu)
c.1327A>T (p.Met443Leu)
10g.75028495T>ACA5564881DUSP29,KAT6Bc.3671T>A (p.Met1224Lys)
c.3122T>A (p.Met1041Lys)
c.2795T>A (p.Met932Lys)
c.2606T>A (p.Met869Lys)
n.577-1901A>T
c.*3622-1901A>T (n.*3622-1901A>T)
c.3509T>A (p.Met1170Lys)
c.2633T>A (p.Met878Lys)
c.1982T>A (p.Met661Lys)
c.1586T>A (p.Met529Lys)
c.1328T>A (p.Met443Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.75028495T>CCA5564880DUSP29,KAT6Bc.3671T>C (p.Met1224Thr)
c.3122T>C (p.Met1041Thr)
c.2795T>C (p.Met932Thr)
c.2606T>C (p.Met869Thr)
n.577-1901A>G
c.*3622-1901A>G (n.*3622-1901A>G)
c.3509T>C (p.Met1170Thr)
c.2633T>C (p.Met878Thr)
c.1982T>C (p.Met661Thr)
c.1586T>C (p.Met529Thr)
c.1328T>C (p.Met443Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
10g.75028495T>GCA377291191DUSP29,KAT6Bc.3671T>G (p.Met1224Arg)
c.3122T>G (p.Met1041Arg)
c.2795T>G (p.Met932Arg)
c.2606T>G (p.Met869Arg)
n.577-1901A>C
c.*3622-1901A>C (n.*3622-1901A>C)
c.3509T>G (p.Met1170Arg)
c.2633T>G (p.Met878Arg)
c.1982T>G (p.Met661Arg)
c.1586T>G (p.Met529Arg)
c.1328T>G (p.Met443Arg)
 dbSNP gnomAD v3 gnomAD v4
10g.75028495T=CA1920306356DUSP29,KAT6Bc.3671T= (p.Met1224=)
c.3122T= (p.Met1041=)
c.2795T= (p.Met932=)
c.2606T= (p.Met869=)
n.577-1901A=
c.*3622-1901A= (n.*3622-1901A=)
c.3509T= (p.Met1170=)
c.2633T= (p.Met878=)
c.1982T= (p.Met661=)
c.1586T= (p.Met529=)
c.1328T= (p.Met443=)
10g.75028496G>ACA377291195DUSP29,KAT6Bc.3672G>A (p.Met1224Ile)
c.3123G>A (p.Met1041Ile)
c.2796G>A (p.Met932Ile)
c.2607G>A (p.Met869Ile)
n.577-1902C>T
c.*3622-1902C>T (n.*3622-1902C>T)
c.3510G>A (p.Met1170Ile)
c.2634G>A (p.Met878Ile)
c.1983G>A (p.Met661Ile)
c.1587G>A (p.Met529Ile)
c.1329G>A (p.Met443Ile)
10g.75028496G>CCA377291200DUSP29,KAT6Bc.3672G>C (p.Met1224Ile)
c.3123G>C (p.Met1041Ile)
c.2796G>C (p.Met932Ile)
c.2607G>C (p.Met869Ile)
n.577-1902C>G
c.*3622-1902C>G (n.*3622-1902C>G)
c.3510G>C (p.Met1170Ile)
c.2634G>C (p.Met878Ile)
c.1983G>C (p.Met661Ile)
c.1587G>C (p.Met529Ile)
c.1329G>C (p.Met443Ile)
 gnomAD v4
10g.75028496G>TCA377291197DUSP29,KAT6Bc.3672G>T (p.Met1224Ile)
c.3123G>T (p.Met1041Ile)
c.2796G>T (p.Met932Ile)
c.2607G>T (p.Met869Ile)
n.577-1902C>A
c.*3622-1902C>A (n.*3622-1902C>A)
c.3510G>T (p.Met1170Ile)
c.2634G>T (p.Met878Ile)
c.1983G>T (p.Met661Ile)
c.1587G>T (p.Met529Ile)
c.1329G>T (p.Met443Ile)
 gnomAD v4
10g.75028497A=CA1920306357DUSP29,KAT6Bc.3673A= (p.Asn1225=)
c.3124A= (p.Asn1042=)
c.2797A= (p.Asn933=)
c.2608A= (p.Asn870=)
n.577-1903T=
c.*3622-1903T= (n.*3622-1903T=)
c.3511A= (p.Asn1171=)
c.2635A= (p.Asn879=)
c.1984A= (p.Asn662=)
c.1588A= (p.Asn530=)
c.1330A= (p.Asn444=)
10g.75028497A>CCA5564882DUSP29,KAT6Bc.3673A>C (p.Asn1225His)
c.3124A>C (p.Asn1042His)
c.2797A>C (p.Asn933His)
c.2608A>C (p.Asn870His)
n.577-1903T>G
c.*3622-1903T>G (n.*3622-1903T>G)
c.3511A>C (p.Asn1171His)
c.2635A>C (p.Asn879His)
c.1984A>C (p.Asn662His)
c.1588A>C (p.Asn530His)
c.1330A>C (p.Asn444His)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.75028497A>GCA377291204DUSP29,KAT6Bc.3673A>G (p.Asn1225Asp)
c.3124A>G (p.Asn1042Asp)
c.2797A>G (p.Asn933Asp)
c.2608A>G (p.Asn870Asp)
n.577-1903T>C
c.*3622-1903T>C (n.*3622-1903T>C)
c.3511A>G (p.Asn1171Asp)
c.2635A>G (p.Asn879Asp)
c.1984A>G (p.Asn662Asp)
c.1588A>G (p.Asn530Asp)
c.1330A>G (p.Asn444Asp)
10g.75028497A>TCA377291206DUSP29,KAT6Bc.3673A>T (p.Asn1225Tyr)
c.3124A>T (p.Asn1042Tyr)
c.2797A>T (p.Asn933Tyr)
c.2608A>T (p.Asn870Tyr)
n.577-1903T>A
c.*3622-1903T>A (n.*3622-1903T>A)
c.3511A>T (p.Asn1171Tyr)
c.2635A>T (p.Asn879Tyr)
c.1984A>T (p.Asn662Tyr)
c.1588A>T (p.Asn530Tyr)
c.1330A>T (p.Asn444Tyr)
10g.75028498A=CA1920306358DUSP29,KAT6Bc.3674A= (p.Asn1225=)
c.3125A= (p.Asn1042=)
c.2798A= (p.Asn933=)
c.2609A= (p.Asn870=)
n.577-1904T=
c.*3622-1904T= (n.*3622-1904T=)
c.3512A= (p.Asn1171=)
c.2636A= (p.Asn879=)
c.1985A= (p.Asn662=)
c.1589A= (p.Asn530=)
c.1331A= (p.Asn444=)
10g.75028498A>CCA377291211DUSP29,KAT6Bc.3674A>C (p.Asn1225Thr)
c.3125A>C (p.Asn1042Thr)
c.2798A>C (p.Asn933Thr)
c.2609A>C (p.Asn870Thr)
n.577-1904T>G
c.*3622-1904T>G (n.*3622-1904T>G)
c.3512A>C (p.Asn1171Thr)
c.2636A>C (p.Asn879Thr)
c.1985A>C (p.Asn662Thr)
c.1589A>C (p.Asn530Thr)
c.1331A>C (p.Asn444Thr)
10g.75028498A>GCA377291213DUSP29,KAT6Bc.3674A>G (p.Asn1225Ser)
c.3125A>G (p.Asn1042Ser)
c.2798A>G (p.Asn933Ser)
c.2609A>G (p.Asn870Ser)
n.577-1904T>C
c.*3622-1904T>C (n.*3622-1904T>C)
c.3512A>G (p.Asn1171Ser)
c.2636A>G (p.Asn879Ser)
c.1985A>G (p.Asn662Ser)
c.1589A>G (p.Asn530Ser)
c.1331A>G (p.Asn444Ser)
 dbSNP gnomAD v4 COSMIC
10g.75028498A>TCA377291215DUSP29,KAT6Bc.3674A>T (p.Asn1225Ile)
c.3125A>T (p.Asn1042Ile)
c.2798A>T (p.Asn933Ile)
c.2609A>T (p.Asn870Ile)
n.577-1904T>A
c.*3622-1904T>A (n.*3622-1904T>A)
c.3512A>T (p.Asn1171Ile)
c.2636A>T (p.Asn879Ile)
c.1985A>T (p.Asn662Ile)
c.1589A>T (p.Asn530Ile)
c.1331A>T (p.Asn444Ile)
10g.75028499T>ACA377291219DUSP29,KAT6Bc.3675T>A (p.Asn1225Lys)
c.3126T>A (p.Asn1042Lys)
c.2799T>A (p.Asn933Lys)
c.2610T>A (p.Asn870Lys)
n.577-1905A>T
c.*3622-1905A>T (n.*3622-1905A>T)
c.3513T>A (p.Asn1171Lys)
c.2637T>A (p.Asn879Lys)
c.1986T>A (p.Asn662Lys)
c.1590T>A (p.Asn530Lys)
c.1332T>A (p.Asn444Lys)
10g.75028499T>CCA470299536DUSP29,KAT6Bc.3675T>C (p.Asn1225=)
c.3126T>C (p.Asn1042=)
c.2799T>C (p.Asn933=)
c.2610T>C (p.Asn870=)
n.577-1905A>G
c.*3622-1905A>G (n.*3622-1905A>G)
c.3513T>C (p.Asn1171=)
c.2637T>C (p.Asn879=)
c.1986T>C (p.Asn662=)
c.1590T>C (p.Asn530=)
c.1332T>C (p.Asn444=)
 gnomAD v4
10g.75028499T>GCA377291221DUSP29,KAT6Bc.3675T>G (p.Asn1225Lys)
c.3126T>G (p.Asn1042Lys)
c.2799T>G (p.Asn933Lys)
c.2610T>G (p.Asn870Lys)
n.577-1905A>C
c.*3622-1905A>C (n.*3622-1905A>C)
c.3513T>G (p.Asn1171Lys)
c.2637T>G (p.Asn879Lys)
c.1986T>G (p.Asn662Lys)
c.1590T>G (p.Asn530Lys)
c.1332T>G (p.Asn444Lys)
10g.75028500G>ACA377291224DUSP29,KAT6Bc.3676G>A (p.Asp1226Asn)
c.3127G>A (p.Asp1043Asn)
c.2800G>A (p.Asp934Asn)
c.2611G>A (p.Asp871Asn)
n.577-1906C>T
c.*3622-1906C>T (n.*3622-1906C>T)
c.3514G>A (p.Asp1172Asn)
c.2638G>A (p.Asp880Asn)
c.1987G>A (p.Asp663Asn)
c.1591G>A (p.Asp531Asn)
c.1333G>A (p.Asp445Asn)
10g.75028500G>CCA377291226DUSP29,KAT6Bc.3676G>C (p.Asp1226His)
c.3127G>C (p.Asp1043His)
c.2800G>C (p.Asp934His)
c.2611G>C (p.Asp871His)
n.577-1906C>G
c.*3622-1906C>G (n.*3622-1906C>G)
c.3514G>C (p.Asp1172His)
c.2638G>C (p.Asp880His)
c.1987G>C (p.Asp663His)
c.1591G>C (p.Asp531His)
c.1333G>C (p.Asp445His)
10g.75028500G>TCA377291229DUSP29,KAT6Bc.3676G>T (p.Asp1226Tyr)
c.3127G>T (p.Asp1043Tyr)
c.2800G>T (p.Asp934Tyr)
c.2611G>T (p.Asp871Tyr)
n.577-1906C>A
c.*3622-1906C>A (n.*3622-1906C>A)
c.3514G>T (p.Asp1172Tyr)
c.2638G>T (p.Asp880Tyr)
c.1987G>T (p.Asp663Tyr)
c.1591G>T (p.Asp531Tyr)
c.1333G>T (p.Asp445Tyr)
10g.75028501A>CCA377291237DUSP29,KAT6Bc.3677A>C (p.Asp1226Ala)
c.3128A>C (p.Asp1043Ala)
c.2801A>C (p.Asp934Ala)
c.2612A>C (p.Asp871Ala)
n.577-1907T>G
c.*3622-1907T>G (n.*3622-1907T>G)
c.3515A>C (p.Asp1172Ala)
c.2639A>C (p.Asp880Ala)
c.1988A>C (p.Asp663Ala)
c.1592A>C (p.Asp531Ala)
c.1334A>C (p.Asp445Ala)
10g.75028501A>GCA377291234DUSP29,KAT6Bc.3677A>G (p.Asp1226Gly)
c.3128A>G (p.Asp1043Gly)
c.2801A>G (p.Asp934Gly)
c.2612A>G (p.Asp871Gly)
n.577-1907T>C
c.*3622-1907T>C (n.*3622-1907T>C)
c.3515A>G (p.Asp1172Gly)
c.2639A>G (p.Asp880Gly)
c.1988A>G (p.Asp663Gly)
c.1592A>G (p.Asp531Gly)
c.1334A>G (p.Asp445Gly)
10g.75028501A>TCA377291233DUSP29,KAT6Bc.3677A>T (p.Asp1226Val)
c.3128A>T (p.Asp1043Val)
c.2801A>T (p.Asp934Val)
c.2612A>T (p.Asp871Val)
n.577-1907T>A
c.*3622-1907T>A (n.*3622-1907T>A)
c.3515A>T (p.Asp1172Val)
c.2639A>T (p.Asp880Val)
c.1988A>T (p.Asp663Val)
c.1592A>T (p.Asp531Val)
c.1334A>T (p.Asp445Val)
10g.75028502T>ACA377291241DUSP29,KAT6Bc.3678T>A (p.Asp1226Glu)
c.3129T>A (p.Asp1043Glu)
c.2802T>A (p.Asp934Glu)
c.2613T>A (p.Asp871Glu)
n.577-1908A>T
c.*3622-1908A>T (n.*3622-1908A>T)
c.3516T>A (p.Asp1172Glu)
c.2640T>A (p.Asp880Glu)
c.1989T>A (p.Asp663Glu)
c.1593T>A (p.Asp531Glu)
c.1335T>A (p.Asp445Glu)
10g.75028502T>CCA470299537DUSP29,KAT6Bc.3678T>C (p.Asp1226=)
c.3129T>C (p.Asp1043=)
c.2802T>C (p.Asp934=)
c.2613T>C (p.Asp871=)
n.577-1908A>G
c.*3622-1908A>G (n.*3622-1908A>G)
c.3516T>C (p.Asp1172=)
c.2640T>C (p.Asp880=)
c.1989T>C (p.Asp663=)
c.1593T>C (p.Asp531=)
c.1335T>C (p.Asp445=)
10g.75028502T>GCA377291243DUSP29,KAT6Bc.3678T>G (p.Asp1226Glu)
c.3129T>G (p.Asp1043Glu)
c.2802T>G (p.Asp934Glu)
c.2613T>G (p.Asp871Glu)
n.577-1908A>C
c.*3622-1908A>C (n.*3622-1908A>C)
c.3516T>G (p.Asp1172Glu)
c.2640T>G (p.Asp880Glu)
c.1989T>G (p.Asp663Glu)
c.1593T>G (p.Asp531Glu)
c.1335T>G (p.Asp445Glu)
10g.75028503G>ACA377291246DUSP29,KAT6Bc.3679G>A (p.Asp1227Asn)
c.3130G>A (p.Asp1044Asn)
c.2803G>A (p.Asp935Asn)
c.2614G>A (p.Asp872Asn)
n.577-1909C>T
c.*3622-1909C>T (n.*3622-1909C>T)
c.3517G>A (p.Asp1173Asn)
c.2641G>A (p.Asp881Asn)
c.1990G>A (p.Asp664Asn)
c.1594G>A (p.Asp532Asn)
c.1336G>A (p.Asp446Asn)
10g.75028503G>CCA377291249DUSP29,KAT6Bc.3679G>C (p.Asp1227His)
c.3130G>C (p.Asp1044His)
c.2803G>C (p.Asp935His)
c.2614G>C (p.Asp872His)
n.577-1909C>G
c.*3622-1909C>G (n.*3622-1909C>G)
c.3517G>C (p.Asp1173His)
c.2641G>C (p.Asp881His)
c.1990G>C (p.Asp664His)
c.1594G>C (p.Asp532His)
c.1336G>C (p.Asp446His)
10g.75028503G>TCA377291251DUSP29,KAT6Bc.3679G>T (p.Asp1227Tyr)
c.3130G>T (p.Asp1044Tyr)
c.2803G>T (p.Asp935Tyr)
c.2614G>T (p.Asp872Tyr)
n.577-1909C>A
c.*3622-1909C>A (n.*3622-1909C>A)
c.3517G>T (p.Asp1173Tyr)
c.2641G>T (p.Asp881Tyr)
c.1990G>T (p.Asp664Tyr)
c.1594G>T (p.Asp532Tyr)
c.1336G>T (p.Asp446Tyr)
10g.75028503_75028519delinsGATTCAAGTAACTTGAACA1920306359DUSP29,KAT6Bc.3679_3695delinsGATTCAAGTAACTTGAA (p.Asp1227=)
c.3130_3146delinsGATTCAAGTAACTTGAA (p.Asp1044=)
c.2803_2819delinsGATTCAAGTAACTTGAA (p.Asp935=)
c.2614_2630delinsGATTCAAGTAACTTGAA (p.Asp872=)
n.577-1925_577-1909delinsTTCAAGTTACTTGAATC
c.*3622-1925_*3622-1909delinsTTCAAGTTACTTGAATC (n.*3622-1925_*3622-1909delinsTTCAAGTTACTTGAATC)
c.3517_3533delinsGATTCAAGTAACTTGAA (p.Asp1173=)
c.2641_2657delinsGATTCAAGTAACTTGAA (p.Asp881=)
c.1990_2006delinsGATTCAAGTAACTTGAA (p.Asp664=)
c.1594_1610delinsGATTCAAGTAACTTGAA (p.Asp532=)
c.1336_1352delinsGATTCAAGTAACTTGAA (p.Asp446=)
10g.75028504A>CCA377291256DUSP29,KAT6Bc.3680A>C (p.Asp1227Ala)
c.3131A>C (p.Asp1044Ala)
c.2804A>C (p.Asp935Ala)
c.2615A>C (p.Asp872Ala)
n.577-1910T>G
c.*3622-1910T>G (n.*3622-1910T>G)
c.3518A>C (p.Asp1173Ala)
c.2642A>C (p.Asp881Ala)
c.1991A>C (p.Asp664Ala)
c.1595A>C (p.Asp532Ala)
c.1337A>C (p.Asp446Ala)
10g.75028504A>GCA377291259DUSP29,KAT6Bc.3680A>G (p.Asp1227Gly)
c.3131A>G (p.Asp1044Gly)
c.2804A>G (p.Asp935Gly)
c.2615A>G (p.Asp872Gly)
n.577-1910T>C
c.*3622-1910T>C (n.*3622-1910T>C)
c.3518A>G (p.Asp1173Gly)
c.2642A>G (p.Asp881Gly)
c.1991A>G (p.Asp664Gly)
c.1595A>G (p.Asp532Gly)
c.1337A>G (p.Asp446Gly)
10g.75028504A>TCA377291262DUSP29,KAT6Bc.3680A>T (p.Asp1227Val)
c.3131A>T (p.Asp1044Val)
c.2804A>T (p.Asp935Val)
c.2615A>T (p.Asp872Val)
n.577-1910T>A
c.*3622-1910T>A (n.*3622-1910T>A)
c.3518A>T (p.Asp1173Val)
c.2642A>T (p.Asp881Val)
c.1991A>T (p.Asp664Val)
c.1595A>T (p.Asp532Val)
c.1337A>T (p.Asp446Val)
10g.75028504_75028506delCA2609745693DUSP29,KAT6Bc.3680_3682del (p.Asp1227_Ser1228delinsAla)
c.3131_3133del (p.Asp1044_Ser1045delinsAla)
c.2804_2806del (p.Asp935_Ser936delinsAla)
c.2615_2617del (p.Asp872_Ser873delinsAla)
n.577-1912_577-1910del
c.*3622-1912_*3622-1910del (n.*3622-1912_*3622-1910del)
c.3518_3520del (p.Asp1173_Ser1174delinsAla)
c.2642_2644del (p.Asp881_Ser882delinsAla)
c.1991_1993del (p.Asp664_Ser665delinsAla)
c.1595_1597del (p.Asp532_Ser533delinsAla)
c.1337_1339del (p.Asp446_Ser447delinsAla)
 gnomAD v4
10g.75028505_75028520delCA129320DUSP29,KAT6Bc.3681_3696del (p.Asp1227GlufsTer11)
c.3132_3147del (p.Asp1044GlufsTer11)
c.2805_2820del (p.Asp935GlufsTer11)
c.2616_2631del (p.Asp872GlufsTer11)
n.577-1925_577-1910del
c.*3622-1925_*3622-1910del (n.*3622-1925_*3622-1910del)
c.3519_3534del (p.Asp1173GlufsTer11)
c.2643_2658del (p.Asp881GlufsTer11)
c.1992_2007del (p.Asp664GlufsTer11)
c.1596_1611del (p.Asp532GlufsTer11)
c.1338_1353del (p.Asp446GlufsTer11)
 ClinVar dbSNP
10g.75028505T>ACA377291275DUSP29,KAT6Bc.3681T>A (p.Asp1227Glu)
c.3132T>A (p.Asp1044Glu)
c.2805T>A (p.Asp935Glu)
c.2616T>A (p.Asp872Glu)
n.577-1911A>T
c.*3622-1911A>T (n.*3622-1911A>T)
c.3519T>A (p.Asp1173Glu)
c.2643T>A (p.Asp881Glu)
c.1992T>A (p.Asp664Glu)
c.1596T>A (p.Asp532Glu)
c.1338T>A (p.Asp446Glu)
10g.75028505T>CCA470299470DUSP29,KAT6Bc.3681T>C (p.Asp1227=)
c.3132T>C (p.Asp1044=)
c.2805T>C (p.Asp935=)
c.2616T>C (p.Asp872=)
n.577-1911A>G
c.*3622-1911A>G (n.*3622-1911A>G)
c.3519T>C (p.Asp1173=)
c.2643T>C (p.Asp881=)
c.1992T>C (p.Asp664=)
c.1596T>C (p.Asp532=)
c.1338T>C (p.Asp446=)
 gnomAD v4
10g.75028505T>GCA377291277DUSP29,KAT6Bc.3681T>G (p.Asp1227Glu)
c.3132T>G (p.Asp1044Glu)
c.2805T>G (p.Asp935Glu)
c.2616T>G (p.Asp872Glu)
n.577-1911A>C
c.*3622-1911A>C (n.*3622-1911A>C)
c.3519T>G (p.Asp1173Glu)
c.2643T>G (p.Asp881Glu)
c.1992T>G (p.Asp664Glu)
c.1596T>G (p.Asp532Glu)
c.1338T>G (p.Asp446Glu)
10g.75028506T>ACA377291286DUSP29,KAT6Bc.3682T>A (p.Ser1228Thr)
c.3133T>A (p.Ser1045Thr)
c.2806T>A (p.Ser936Thr)
c.2617T>A (p.Ser873Thr)
n.577-1912A>T
c.*3622-1912A>T (n.*3622-1912A>T)
c.3520T>A (p.Ser1174Thr)
c.2644T>A (p.Ser882Thr)
c.1993T>A (p.Ser665Thr)
c.1597T>A (p.Ser533Thr)
c.1339T>A (p.Ser447Thr)
10g.75028506T>CCA377291284DUSP29,KAT6Bc.3682T>C (p.Ser1228Pro)
c.3133T>C (p.Ser1045Pro)
c.2806T>C (p.Ser936Pro)
c.2617T>C (p.Ser873Pro)
n.577-1912A>G
c.*3622-1912A>G (n.*3622-1912A>G)
c.3520T>C (p.Ser1174Pro)
c.2644T>C (p.Ser882Pro)
c.1993T>C (p.Ser665Pro)
c.1597T>C (p.Ser533Pro)
c.1339T>C (p.Ser447Pro)
10g.75028506T>GCA377291281DUSP29,KAT6Bc.3682T>G (p.Ser1228Ala)
c.3133T>G (p.Ser1045Ala)
c.2806T>G (p.Ser936Ala)
c.2617T>G (p.Ser873Ala)
n.577-1912A>C
c.*3622-1912A>C (n.*3622-1912A>C)
c.3520T>G (p.Ser1174Ala)
c.2644T>G (p.Ser882Ala)
c.1993T>G (p.Ser665Ala)
c.1597T>G (p.Ser533Ala)
c.1339T>G (p.Ser447Ala)
10g.75028507C>ACA377291290DUSP29,KAT6Bc.3683C>A (p.Ser1228Ter)
c.3134C>A (p.Ser1045Ter)
c.2807C>A (p.Ser936Ter)
c.2618C>A (p.Ser873Ter)
n.577-1913G>T
c.*3622-1913G>T (n.*3622-1913G>T)
c.3521C>A (p.Ser1174Ter)
c.2645C>A (p.Ser882Ter)
c.1994C>A (p.Ser665Ter)
c.1598C>A (p.Ser533Ter)
c.1340C>A (p.Ser447Ter)
10g.75028507C>GCA377291293DUSP29,KAT6Bc.3683C>G (p.Ser1228Ter)
c.3134C>G (p.Ser1045Ter)
c.2807C>G (p.Ser936Ter)
c.2618C>G (p.Ser873Ter)
n.577-1913G>C
c.*3622-1913G>C (n.*3622-1913G>C)
c.3521C>G (p.Ser1174Ter)
c.2645C>G (p.Ser882Ter)
c.1994C>G (p.Ser665Ter)
c.1598C>G (p.Ser533Ter)
c.1340C>G (p.Ser447Ter)
 gnomAD v4
10g.75028507C>TCA377291296DUSP29,KAT6Bc.3683C>T (p.Ser1228Leu)
c.3134C>T (p.Ser1045Leu)
c.2807C>T (p.Ser936Leu)
c.2618C>T (p.Ser873Leu)
n.577-1913G>A
c.*3622-1913G>A (n.*3622-1913G>A)
c.3521C>T (p.Ser1174Leu)
c.2645C>T (p.Ser882Leu)
c.1994C>T (p.Ser665Leu)
c.1598C>T (p.Ser533Leu)
c.1340C>T (p.Ser447Leu)
10g.75028508A>CCA470299471DUSP29,KAT6Bc.3684A>C (p.Ser1228=)
c.3135A>C (p.Ser1045=)
c.2808A>C (p.Ser936=)
c.2619A>C (p.Ser873=)
n.577-1914T>G
c.*3622-1914T>G (n.*3622-1914T>G)
c.3522A>C (p.Ser1174=)
c.2646A>C (p.Ser882=)
c.1995A>C (p.Ser665=)
c.1599A>C (p.Ser533=)
c.1341A>C (p.Ser447=)
10g.75028508A>GCA470299472DUSP29,KAT6Bc.3684A>G (p.Ser1228=)
c.3135A>G (p.Ser1045=)
c.2808A>G (p.Ser936=)
c.2619A>G (p.Ser873=)
n.577-1914T>C
c.*3622-1914T>C (n.*3622-1914T>C)
c.3522A>G (p.Ser1174=)
c.2646A>G (p.Ser882=)
c.1995A>G (p.Ser665=)
c.1599A>G (p.Ser533=)
c.1341A>G (p.Ser447=)
10g.75028508A>TCA470299473DUSP29,KAT6Bc.3684A>T (p.Ser1228=)
c.3135A>T (p.Ser1045=)
c.2808A>T (p.Ser936=)
c.2619A>T (p.Ser873=)
n.577-1914T>A
c.*3622-1914T>A (n.*3622-1914T>A)
c.3522A>T (p.Ser1174=)
c.2646A>T (p.Ser882=)
c.1995A>T (p.Ser665=)
c.1599A>T (p.Ser533=)
c.1341A>T (p.Ser447=)
10g.75028509A=CA1920306360DUSP29,KAT6Bc.3685A= (p.Ser1229=)
c.3136A= (p.Ser1046=)
c.2809A= (p.Ser937=)
c.2620A= (p.Ser874=)
n.577-1915T=
c.*3622-1915T= (n.*3622-1915T=)
c.3523A= (p.Ser1175=)
c.2647A= (p.Ser883=)
c.1996A= (p.Ser666=)
c.1600A= (p.Ser534=)
c.1342A= (p.Ser448=)
10g.75028509A>CCA377291299DUSP29,KAT6Bc.3685A>C (p.Ser1229Arg)
c.3136A>C (p.Ser1046Arg)
c.2809A>C (p.Ser937Arg)
c.2620A>C (p.Ser874Arg)
n.577-1915T>G
c.*3622-1915T>G (n.*3622-1915T>G)
c.3523A>C (p.Ser1175Arg)
c.2647A>C (p.Ser883Arg)
c.1996A>C (p.Ser666Arg)
c.1600A>C (p.Ser534Arg)
c.1342A>C (p.Ser448Arg)
10g.75028509A>GCA5564883DUSP29,KAT6Bc.3685A>G (p.Ser1229Gly)
c.3136A>G (p.Ser1046Gly)
c.2809A>G (p.Ser937Gly)
c.2620A>G (p.Ser874Gly)
n.577-1915T>C
c.*3622-1915T>C (n.*3622-1915T>C)
c.3523A>G (p.Ser1175Gly)
c.2647A>G (p.Ser883Gly)
c.1996A>G (p.Ser666Gly)
c.1600A>G (p.Ser534Gly)
c.1342A>G (p.Ser448Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.75028509A>TCA377291304DUSP29,KAT6Bc.3685A>T (p.Ser1229Cys)
c.3136A>T (p.Ser1046Cys)
c.2809A>T (p.Ser937Cys)
c.2620A>T (p.Ser874Cys)
n.577-1915T>A
c.*3622-1915T>A (n.*3622-1915T>A)
c.3523A>T (p.Ser1175Cys)
c.2647A>T (p.Ser883Cys)
c.1996A>T (p.Ser666Cys)
c.1600A>T (p.Ser534Cys)
c.1342A>T (p.Ser448Cys)
10g.75028510G>ACA377291314DUSP29,KAT6Bc.3686G>A (p.Ser1229Asn)
c.3137G>A (p.Ser1046Asn)
c.2810G>A (p.Ser937Asn)
c.2621G>A (p.Ser874Asn)
n.577-1916C>T
c.*3622-1916C>T (n.*3622-1916C>T)
c.3524G>A (p.Ser1175Asn)
c.2648G>A (p.Ser883Asn)
c.1997G>A (p.Ser666Asn)
c.1601G>A (p.Ser534Asn)
c.1343G>A (p.Ser448Asn)
 gnomAD v4
10g.75028510G>CCA377291307DUSP29,KAT6Bc.3686G>C (p.Ser1229Thr)
c.3137G>C (p.Ser1046Thr)
c.2810G>C (p.Ser937Thr)
c.2621G>C (p.Ser874Thr)
n.577-1916C>G
c.*3622-1916C>G (n.*3622-1916C>G)
c.3524G>C (p.Ser1175Thr)
c.2648G>C (p.Ser883Thr)
c.1997G>C (p.Ser666Thr)
c.1601G>C (p.Ser534Thr)
c.1343G>C (p.Ser448Thr)
10g.75028510G>TCA377291311DUSP29,KAT6Bc.3686G>T (p.Ser1229Ile)
c.3137G>T (p.Ser1046Ile)
c.2810G>T (p.Ser937Ile)
c.2621G>T (p.Ser874Ile)
n.577-1916C>A
c.*3622-1916C>A (n.*3622-1916C>A)
c.3524G>T (p.Ser1175Ile)
c.2648G>T (p.Ser883Ile)
c.1997G>T (p.Ser666Ile)
c.1601G>T (p.Ser534Ile)
c.1343G>T (p.Ser448Ile)
10g.75028511T>ACA377291319DUSP29,KAT6Bc.3687T>A (p.Ser1229Arg)
c.3138T>A (p.Ser1046Arg)
c.2811T>A (p.Ser937Arg)
c.2622T>A (p.Ser874Arg)
n.577-1917A>T
c.*3622-1917A>T (n.*3622-1917A>T)
c.3525T>A (p.Ser1175Arg)
c.2649T>A (p.Ser883Arg)
c.1998T>A (p.Ser666Arg)
c.1602T>A (p.Ser534Arg)
c.1344T>A (p.Ser448Arg)
10g.75028511T>CCA470299474DUSP29,KAT6Bc.3687T>C (p.Ser1229=)
c.3138T>C (p.Ser1046=)
c.2811T>C (p.Ser937=)
c.2622T>C (p.Ser874=)
n.577-1917A>G
c.*3622-1917A>G (n.*3622-1917A>G)
c.3525T>C (p.Ser1175=)
c.2649T>C (p.Ser883=)
c.1998T>C (p.Ser666=)
c.1602T>C (p.Ser534=)
c.1344T>C (p.Ser448=)
10g.75028511T>GCA377291321DUSP29,KAT6Bc.3687T>G (p.Ser1229Arg)
c.3138T>G (p.Ser1046Arg)
c.2811T>G (p.Ser937Arg)
c.2622T>G (p.Ser874Arg)
n.577-1917A>C
c.*3622-1917A>C (n.*3622-1917A>C)
c.3525T>G (p.Ser1175Arg)
c.2649T>G (p.Ser883Arg)
c.1998T>G (p.Ser666Arg)
c.1602T>G (p.Ser534Arg)
c.1344T>G (p.Ser448Arg)
10g.75028512A>CCA377291325DUSP29,KAT6Bc.3688A>C (p.Asn1230His)
c.3139A>C (p.Asn1047His)
c.2812A>C (p.Asn938His)
c.2623A>C (p.Asn875His)
n.577-1918T>G
c.*3622-1918T>G (n.*3622-1918T>G)
c.3526A>C (p.Asn1176His)
c.2650A>C (p.Asn884His)
c.1999A>C (p.Asn667His)
c.1603A>C (p.Asn535His)
c.1345A>C (p.Asn449His)
10g.75028512A>GCA377291328DUSP29,KAT6Bc.3688A>G (p.Asn1230Asp)
c.3139A>G (p.Asn1047Asp)
c.2812A>G (p.Asn938Asp)
c.2623A>G (p.Asn875Asp)
n.577-1918T>C
c.*3622-1918T>C (n.*3622-1918T>C)
c.3526A>G (p.Asn1176Asp)
c.2650A>G (p.Asn884Asp)
c.1999A>G (p.Asn667Asp)
c.1603A>G (p.Asn535Asp)
c.1345A>G (p.Asn449Asp)
10g.75028512A>TCA377291330DUSP29,KAT6Bc.3688A>T (p.Asn1230Tyr)
c.3139A>T (p.Asn1047Tyr)
c.2812A>T (p.Asn938Tyr)
c.2623A>T (p.Asn875Tyr)
n.577-1918T>A
c.*3622-1918T>A (n.*3622-1918T>A)
c.3526A>T (p.Asn1176Tyr)
c.2650A>T (p.Asn884Tyr)
c.1999A>T (p.Asn667Tyr)
c.1603A>T (p.Asn535Tyr)
c.1345A>T (p.Asn449Tyr)
10g.75028514_75028523delCA2573332436DUSP29,KAT6Bc.3690_3699del (p.Asn1230LysfsTer10)
c.3141_3150del (p.Asn1047LysfsTer10)
c.2814_2823del (p.Asn938LysfsTer10)
c.2625_2634del (p.Asn875LysfsTer10)
n.577-1927_577-1918del
c.*3622-1927_*3622-1918del (n.*3622-1927_*3622-1918del)
c.3528_3537del (p.Asn1176LysfsTer10)
c.2652_2661del (p.Asn884LysfsTer10)
c.2001_2010del (p.Asn667LysfsTer10)
c.1605_1614del (p.Asn535LysfsTer10)
c.1347_1356del (p.Asn449LysfsTer10)
 ClinVar
10g.75028513A>CCA377291339DUSP29,KAT6Bc.3689A>C (p.Asn1230Thr)
c.3140A>C (p.Asn1047Thr)
c.2813A>C (p.Asn938Thr)
c.2624A>C (p.Asn875Thr)
n.577-1919T>G
c.*3622-1919T>G (n.*3622-1919T>G)
c.3527A>C (p.Asn1176Thr)
c.2651A>C (p.Asn884Thr)
c.2000A>C (p.Asn667Thr)
c.1604A>C (p.Asn535Thr)
c.1346A>C (p.Asn449Thr)
10g.75028513A>GCA377291334DUSP29,KAT6Bc.3689A>G (p.Asn1230Ser)
c.3140A>G (p.Asn1047Ser)
c.2813A>G (p.Asn938Ser)
c.2624A>G (p.Asn875Ser)
n.577-1919T>C
c.*3622-1919T>C (n.*3622-1919T>C)
c.3527A>G (p.Asn1176Ser)
c.2651A>G (p.Asn884Ser)
c.2000A>G (p.Asn667Ser)
c.1604A>G (p.Asn535Ser)
c.1346A>G (p.Asn449Ser)
10g.75028513A>TCA377291336DUSP29,KAT6Bc.3689A>T (p.Asn1230Ile)
c.3140A>T (p.Asn1047Ile)
c.2813A>T (p.Asn938Ile)
c.2624A>T (p.Asn875Ile)
n.577-1919T>A
c.*3622-1919T>A (n.*3622-1919T>A)
c.3527A>T (p.Asn1176Ile)
c.2651A>T (p.Asn884Ile)
c.2000A>T (p.Asn667Ile)
c.1604A>T (p.Asn535Ile)
c.1346A>T (p.Asn449Ile)
10g.75028514C>ACA377291342DUSP29,KAT6Bc.3690C>A (p.Asn1230Lys)
c.3141C>A (p.Asn1047Lys)
c.2814C>A (p.Asn938Lys)
c.2625C>A (p.Asn875Lys)
n.577-1920G>T
c.*3622-1920G>T (n.*3622-1920G>T)
c.3528C>A (p.Asn1176Lys)
c.2652C>A (p.Asn884Lys)
c.2001C>A (p.Asn667Lys)
c.1605C>A (p.Asn535Lys)
c.1347C>A (p.Asn449Lys)
10g.75028514C>GCA377291343DUSP29,KAT6Bc.3690C>G (p.Asn1230Lys)
c.3141C>G (p.Asn1047Lys)
c.2814C>G (p.Asn938Lys)
c.2625C>G (p.Asn875Lys)
n.577-1920G>C
c.*3622-1920G>C (n.*3622-1920G>C)
c.3528C>G (p.Asn1176Lys)
c.2652C>G (p.Asn884Lys)
c.2001C>G (p.Asn667Lys)
c.1605C>G (p.Asn535Lys)
c.1347C>G (p.Asn449Lys)
10g.75028514C>TCA470299475DUSP29,KAT6Bc.3690C>T (p.Asn1230=)
c.3141C>T (p.Asn1047=)
c.2814C>T (p.Asn938=)
c.2625C>T (p.Asn875=)
n.577-1920G>A
c.*3622-1920G>A (n.*3622-1920G>A)
c.3528C>T (p.Asn1176=)
c.2652C>T (p.Asn884=)
c.2001C>T (p.Asn667=)
c.1605C>T (p.Asn535=)
c.1347C>T (p.Asn449=)
 ClinVar dbSNP gnomAD v4
10g.75028515T>ACA377291346DUSP29,KAT6Bc.3691T>A (p.Leu1231Met)
c.3142T>A (p.Leu1048Met)
c.2815T>A (p.Leu939Met)
c.2626T>A (p.Leu876Met)
n.577-1921A>T
c.*3622-1921A>T (n.*3622-1921A>T)
c.3529T>A (p.Leu1177Met)
c.2653T>A (p.Leu885Met)
c.2002T>A (p.Leu668Met)
c.1606T>A (p.Leu536Met)
c.1348T>A (p.Leu450Met)
 dbSNP
10g.75028515T>CCA470299476DUSP29,KAT6Bc.3691T>C (p.Leu1231=)
c.3142T>C (p.Leu1048=)
c.2815T>C (p.Leu939=)
c.2626T>C (p.Leu876=)
n.577-1921A>G
c.*3622-1921A>G (n.*3622-1921A>G)
c.3529T>C (p.Leu1177=)
c.2653T>C (p.Leu885=)
c.2002T>C (p.Leu668=)
c.1606T>C (p.Leu536=)
c.1348T>C (p.Leu450=)
 gnomAD v4
10g.75028515T>GCA377291349DUSP29,KAT6Bc.3691T>G (p.Leu1231Val)
c.3142T>G (p.Leu1048Val)
c.2815T>G (p.Leu939Val)
c.2626T>G (p.Leu876Val)
n.577-1921A>C
c.*3622-1921A>C (n.*3622-1921A>C)
c.3529T>G (p.Leu1177Val)
c.2653T>G (p.Leu885Val)
c.2002T>G (p.Leu668Val)
c.1606T>G (p.Leu536Val)
c.1348T>G (p.Leu450Val)
10g.75028515T=CA1920306361DUSP29,KAT6Bc.3691T= (p.Leu1231=)
c.3142T= (p.Leu1048=)
c.2815T= (p.Leu939=)
c.2626T= (p.Leu876=)
n.577-1921A=
c.*3622-1921A= (n.*3622-1921A=)
c.3529T= (p.Leu1177=)
c.2653T= (p.Leu885=)
c.2002T= (p.Leu668=)
c.1606T= (p.Leu536=)
c.1348T= (p.Leu450=)
10g.75028516T>ACA377291352DUSP29,KAT6Bc.3692T>A (p.Leu1231Ter)
c.3143T>A (p.Leu1048Ter)
c.2816T>A (p.Leu939Ter)
c.2627T>A (p.Leu876Ter)
n.577-1922A>T
c.*3622-1922A>T (n.*3622-1922A>T)
c.3530T>A (p.Leu1177Ter)
c.2654T>A (p.Leu885Ter)
c.2003T>A (p.Leu668Ter)
c.1607T>A (p.Leu536Ter)
c.1349T>A (p.Leu450Ter)
10g.75028516T>CCA377291354DUSP29,KAT6Bc.3692T>C (p.Leu1231Ser)
c.3143T>C (p.Leu1048Ser)
c.2816T>C (p.Leu939Ser)
c.2627T>C (p.Leu876Ser)
n.577-1922A>G
c.*3622-1922A>G (n.*3622-1922A>G)
c.3530T>C (p.Leu1177Ser)
c.2654T>C (p.Leu885Ser)
c.2003T>C (p.Leu668Ser)
c.1607T>C (p.Leu536Ser)
c.1349T>C (p.Leu450Ser)
10g.75028516T>GCA377291357DUSP29,KAT6Bc.3692T>G (p.Leu1231Trp)
c.3143T>G (p.Leu1048Trp)
c.2816T>G (p.Leu939Trp)
c.2627T>G (p.Leu876Trp)
n.577-1922A>C
c.*3622-1922A>C (n.*3622-1922A>C)
c.3530T>G (p.Leu1177Trp)
c.2654T>G (p.Leu885Trp)
c.2003T>G (p.Leu668Trp)
c.1607T>G (p.Leu536Trp)
c.1349T>G (p.Leu450Trp)
10g.75028517G>ACA470299477DUSP29,KAT6Bc.3693G>A (p.Leu1231=)
c.3144G>A (p.Leu1048=)
c.2817G>A (p.Leu939=)
c.2628G>A (p.Leu876=)
n.577-1923C>T
c.*3622-1923C>T (n.*3622-1923C>T)
c.3531G>A (p.Leu1177=)
c.2655G>A (p.Leu885=)
c.2004G>A (p.Leu668=)
c.1608G>A (p.Leu536=)
c.1350G>A (p.Leu450=)
10g.75028517G>CCA377291361DUSP29,KAT6Bc.3693G>C (p.Leu1231Phe)
c.3144G>C (p.Leu1048Phe)
c.2817G>C (p.Leu939Phe)
c.2628G>C (p.Leu876Phe)
n.577-1923C>G
c.*3622-1923C>G (n.*3622-1923C>G)
c.3531G>C (p.Leu1177Phe)
c.2655G>C (p.Leu885Phe)
c.2004G>C (p.Leu668Phe)
c.1608G>C (p.Leu536Phe)
c.1350G>C (p.Leu450Phe)
10g.75028517G>TCA377291363DUSP29,KAT6Bc.3693G>T (p.Leu1231Phe)
c.3144G>T (p.Leu1048Phe)
c.2817G>T (p.Leu939Phe)
c.2628G>T (p.Leu876Phe)
n.577-1923C>A
c.*3622-1923C>A (n.*3622-1923C>A)
c.3531G>T (p.Leu1177Phe)
c.2655G>T (p.Leu885Phe)
c.2004G>T (p.Leu668Phe)
c.1608G>T (p.Leu536Phe)
c.1350G>T (p.Leu450Phe)
10g.75028518A=CA1920306362DUSP29,KAT6Bc.3694A= (p.Lys1232=)
c.3145A= (p.Lys1049=)
c.2818A= (p.Lys940=)
c.2629A= (p.Lys877=)
n.577-1924T=
c.*3622-1924T= (n.*3622-1924T=)
c.3532A= (p.Lys1178=)
c.2656A= (p.Lys886=)
c.2005A= (p.Lys669=)
c.1609A= (p.Lys537=)
c.1351A= (p.Lys451=)
10g.75028518A>CCA377291369DUSP29,KAT6Bc.3694A>C (p.Lys1232Gln)
c.3145A>C (p.Lys1049Gln)
c.2818A>C (p.Lys940Gln)
c.2629A>C (p.Lys877Gln)
n.577-1924T>G
c.*3622-1924T>G (n.*3622-1924T>G)
c.3532A>C (p.Lys1178Gln)
c.2656A>C (p.Lys886Gln)
c.2005A>C (p.Lys669Gln)
c.1609A>C (p.Lys537Gln)
c.1351A>C (p.Lys451Gln)
10g.75028518A>GCA5564884DUSP29,KAT6Bc.3694A>G (p.Lys1232Glu)
c.3145A>G (p.Lys1049Glu)
c.2818A>G (p.Lys940Glu)
c.2629A>G (p.Lys877Glu)
n.577-1924T>C
c.*3622-1924T>C (n.*3622-1924T>C)
c.3532A>G (p.Lys1178Glu)
c.2656A>G (p.Lys886Glu)
c.2005A>G (p.Lys669Glu)
c.1609A>G (p.Lys537Glu)
c.1351A>G (p.Lys451Glu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
10g.75028518A>TCA377291372DUSP29,KAT6Bc.3694A>T (p.Lys1232Ter)
c.3145A>T (p.Lys1049Ter)
c.2818A>T (p.Lys940Ter)
c.2629A>T (p.Lys877Ter)
n.577-1924T>A
c.*3622-1924T>A (n.*3622-1924T>A)
c.3532A>T (p.Lys1178Ter)
c.2656A>T (p.Lys886Ter)
c.2005A>T (p.Lys669Ter)
c.1609A>T (p.Lys537Ter)
c.1351A>T (p.Lys451Ter)
10g.75028519A>CCA377291374DUSP29,KAT6Bc.3695A>C (p.Lys1232Thr)
c.3146A>C (p.Lys1049Thr)
c.2819A>C (p.Lys940Thr)
c.2630A>C (p.Lys877Thr)
n.577-1925T>G
c.*3622-1925T>G (n.*3622-1925T>G)
c.3533A>C (p.Lys1178Thr)
c.2657A>C (p.Lys886Thr)
c.2006A>C (p.Lys669Thr)
c.1610A>C (p.Lys537Thr)
c.1352A>C (p.Lys451Thr)
10g.75028519A>GCA377291379DUSP29,KAT6Bc.3695A>G (p.Lys1232Arg)
c.3146A>G (p.Lys1049Arg)
c.2819A>G (p.Lys940Arg)
c.2630A>G (p.Lys877Arg)
n.577-1925T>C
c.*3622-1925T>C (n.*3622-1925T>C)
c.3533A>G (p.Lys1178Arg)
c.2657A>G (p.Lys886Arg)
c.2006A>G (p.Lys669Arg)
c.1610A>G (p.Lys537Arg)
c.1352A>G (p.Lys451Arg)
10g.75028519A>TCA377291376DUSP29,KAT6Bc.3695A>T (p.Lys1232Ile)
c.3146A>T (p.Lys1049Ile)
c.2819A>T (p.Lys940Ile)
c.2630A>T (p.Lys877Ile)
n.577-1925T>A
c.*3622-1925T>A (n.*3622-1925T>A)
c.3533A>T (p.Lys1178Ile)
c.2657A>T (p.Lys886Ile)
c.2006A>T (p.Lys669Ile)
c.1610A>T (p.Lys537Ile)
c.1352A>T (p.Lys451Ile)
10g.75028522_75028524delCA2609745694DUSP29,KAT6Bc.3698_3700del (p.Glu1233del)
c.3149_3151del (p.Glu1050del)
c.2822_2824del (p.Glu941del)
c.2633_2635del (p.Glu878del)
n.577-1927_577-1925del
c.*3622-1927_*3622-1925del (n.*3622-1927_*3622-1925del)
c.3536_3538del (p.Glu1179del)
c.2660_2662del (p.Glu887del)
c.2009_2011del (p.Glu670del)
c.1613_1615del (p.Glu538del)
c.1355_1357del (p.Glu452del)
 gnomAD v4
10g.75028520A>CCA377291383DUSP29,KAT6Bc.3696A>C (p.Lys1232Asn)
c.3147A>C (p.Lys1049Asn)
c.2820A>C (p.Lys940Asn)
c.2631A>C (p.Lys877Asn)
n.577-1926T>G
c.*3622-1926T>G (n.*3622-1926T>G)
c.3534A>C (p.Lys1178Asn)
c.2658A>C (p.Lys886Asn)
c.2007A>C (p.Lys669Asn)
c.1611A>C (p.Lys537Asn)
c.1353A>C (p.Lys451Asn)
10g.75028520A>GCA470299478DUSP29,KAT6Bc.3696A>G (p.Lys1232=)
c.3147A>G (p.Lys1049=)
c.2820A>G (p.Lys940=)
c.2631A>G (p.Lys877=)
n.577-1926T>C
c.*3622-1926T>C (n.*3622-1926T>C)
c.3534A>G (p.Lys1178=)
c.2658A>G (p.Lys886=)
c.2007A>G (p.Lys669=)
c.1611A>G (p.Lys537=)
c.1353A>G (p.Lys451=)
10g.75028520A>TCA377291385DUSP29,KAT6Bc.3696A>T (p.Lys1232Asn)
c.3147A>T (p.Lys1049Asn)
c.2820A>T (p.Lys940Asn)
c.2631A>T (p.Lys877Asn)
n.577-1926T>A
c.*3622-1926T>A (n.*3622-1926T>A)
c.3534A>T (p.Lys1178Asn)
c.2658A>T (p.Lys886Asn)
c.2007A>T (p.Lys669Asn)
c.1611A>T (p.Lys537Asn)
c.1353A>T (p.Lys451Asn)
10g.75028521G>ACA5564885DUSP29,KAT6Bc.3697G>A (p.Glu1233Lys)
c.3148G>A (p.Glu1050Lys)
c.2821G>A (p.Glu941Lys)
c.2632G>A (p.Glu878Lys)
n.577-1927C>T
c.*3622-1927C>T (n.*3622-1927C>T)
c.3535G>A (p.Glu1179Lys)
c.2659G>A (p.Glu887Lys)
c.2008G>A (p.Glu670Lys)
c.1612G>A (p.Glu538Lys)
c.1354G>A (p.Glu452Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.75028521G>CCA377291391DUSP29,KAT6Bc.3697G>C (p.Glu1233Gln)
c.3148G>C (p.Glu1050Gln)
c.2821G>C (p.Glu941Gln)
c.2632G>C (p.Glu878Gln)
n.577-1927C>G
c.*3622-1927C>G (n.*3622-1927C>G)
c.3535G>C (p.Glu1179Gln)
c.2659G>C (p.Glu887Gln)
c.2008G>C (p.Glu670Gln)
c.1612G>C (p.Glu538Gln)
c.1354G>C (p.Glu452Gln)
10g.75028521G=CA1920306363DUSP29,KAT6Bc.3697G= (p.Glu1233=)
c.3148G= (p.Glu1050=)
c.2821G= (p.Glu941=)
c.2632G= (p.Glu878=)
n.577-1927C=
c.*3622-1927C= (n.*3622-1927C=)
c.3535G= (p.Glu1179=)
c.2659G= (p.Glu887=)
c.2008G= (p.Glu670=)
c.1612G= (p.Glu538=)
c.1354G= (p.Glu452=)
10g.75028521G>TCA377291394DUSP29,KAT6Bc.3697G>T (p.Glu1233Ter)
c.3148G>T (p.Glu1050Ter)
c.2821G>T (p.Glu941Ter)
c.2632G>T (p.Glu878Ter)
n.577-1927C>A
c.*3622-1927C>A (n.*3622-1927C>A)
c.3535G>T (p.Glu1179Ter)
c.2659G>T (p.Glu887Ter)
c.2008G>T (p.Glu670Ter)
c.1612G>T (p.Glu538Ter)
c.1354G>T (p.Glu452Ter)
10g.75028522A>CCA377291396DUSP29,KAT6Bc.3698A>C (p.Glu1233Ala)
c.3149A>C (p.Glu1050Ala)
c.2822A>C (p.Glu941Ala)
c.2633A>C (p.Glu878Ala)
n.577-1928T>G
c.*3622-1928T>G (n.*3622-1928T>G)
c.3536A>C (p.Glu1179Ala)
c.2660A>C (p.Glu887Ala)
c.2009A>C (p.Glu670Ala)
c.1613A>C (p.Glu538Ala)
c.1355A>C (p.Glu452Ala)
10g.75028522A>GCA377291397DUSP29,KAT6Bc.3698A>G (p.Glu1233Gly)
c.3149A>G (p.Glu1050Gly)
c.2822A>G (p.Glu941Gly)
c.2633A>G (p.Glu878Gly)
n.577-1928T>C
c.*3622-1928T>C (n.*3622-1928T>C)
c.3536A>G (p.Glu1179Gly)
c.2660A>G (p.Glu887Gly)
c.2009A>G (p.Glu670Gly)
c.1613A>G (p.Glu538Gly)
c.1355A>G (p.Glu452Gly)
10g.75028522A>TCA377291399DUSP29,KAT6Bc.3698A>T (p.Glu1233Val)
c.3149A>T (p.Glu1050Val)
c.2822A>T (p.Glu941Val)
c.2633A>T (p.Glu878Val)
n.577-1928T>A
c.*3622-1928T>A (n.*3622-1928T>A)
c.3536A>T (p.Glu1179Val)
c.2660A>T (p.Glu887Val)
c.2009A>T (p.Glu670Val)
c.1613A>T (p.Glu538Val)
c.1355A>T (p.Glu452Val)
10g.75028523A>CCA377291401DUSP29,KAT6Bc.3699A>C (p.Glu1233Asp)
c.3150A>C (p.Glu1050Asp)
c.2823A>C (p.Glu941Asp)
c.2634A>C (p.Glu878Asp)
n.577-1929T>G
c.*3622-1929T>G (n.*3622-1929T>G)
c.3537A>C (p.Glu1179Asp)
c.2661A>C (p.Glu887Asp)
c.2010A>C (p.Glu670Asp)
c.1614A>C (p.Glu538Asp)
c.1356A>C (p.Glu452Asp)
10g.75028523A>GCA470299479DUSP29,KAT6Bc.3699A>G (p.Glu1233=)
c.3150A>G (p.Glu1050=)
c.2823A>G (p.Glu941=)
c.2634A>G (p.Glu878=)
n.577-1929T>C
c.*3622-1929T>C (n.*3622-1929T>C)
c.3537A>G (p.Glu1179=)
c.2661A>G (p.Glu887=)
c.2010A>G (p.Glu670=)
c.1614A>G (p.Glu538=)
c.1356A>G (p.Glu452=)
10g.75028523A>TCA377291402DUSP29,KAT6Bc.3699A>T (p.Glu1233Asp)
c.3150A>T (p.Glu1050Asp)
c.2823A>T (p.Glu941Asp)
c.2634A>T (p.Glu878Asp)
n.577-1929T>A
c.*3622-1929T>A (n.*3622-1929T>A)
c.3537A>T (p.Glu1179Asp)
c.2661A>T (p.Glu887Asp)
c.2010A>T (p.Glu670Asp)
c.1614A>T (p.Glu538Asp)
c.1356A>T (p.Glu452Asp)
10g.75028524G>ACA377291405DUSP29,KAT6Bc.3700G>A (p.Gly1234Ser)
c.3151G>A (p.Gly1051Ser)
c.2824G>A (p.Gly942Ser)
c.2635G>A (p.Gly879Ser)
n.577-1930C>T
c.*3622-1930C>T (n.*3622-1930C>T)
c.3538G>A (p.Gly1180Ser)
c.2662G>A (p.Gly888Ser)
c.2011G>A (p.Gly671Ser)
c.1615G>A (p.Gly539Ser)
c.1357G>A (p.Gly453Ser)
 gnomAD v4
10g.75028524G>CCA377291407DUSP29,KAT6Bc.3700G>C (p.Gly1234Arg)
c.3151G>C (p.Gly1051Arg)
c.2824G>C (p.Gly942Arg)
c.2635G>C (p.Gly879Arg)
n.577-1930C>G
c.*3622-1930C>G (n.*3622-1930C>G)
c.3538G>C (p.Gly1180Arg)
c.2662G>C (p.Gly888Arg)
c.2011G>C (p.Gly671Arg)
c.1615G>C (p.Gly539Arg)
c.1357G>C (p.Gly453Arg)
10g.75028524G>TCA377291409DUSP29,KAT6Bc.3700G>T (p.Gly1234Cys)
c.3151G>T (p.Gly1051Cys)
c.2824G>T (p.Gly942Cys)
c.2635G>T (p.Gly879Cys)
n.577-1930C>A
c.*3622-1930C>A (n.*3622-1930C>A)
c.3538G>T (p.Gly1180Cys)
c.2662G>T (p.Gly888Cys)
c.2011G>T (p.Gly671Cys)
c.1615G>T (p.Gly539Cys)
c.1357G>T (p.Gly453Cys)
10g.75028525G>ACA377291411DUSP29,KAT6Bc.3701G>A (p.Gly1234Asp)
c.3152G>A (p.Gly1051Asp)
c.2825G>A (p.Gly942Asp)
c.2636G>A (p.Gly879Asp)
n.577-1931C>T
c.*3622-1931C>T (n.*3622-1931C>T)
c.3539G>A (p.Gly1180Asp)
c.2663G>A (p.Gly888Asp)
c.2012G>A (p.Gly671Asp)
c.1616G>A (p.Gly539Asp)
c.1358G>A (p.Gly453Asp)
10g.75028525G>CCA5564886DUSP29,KAT6Bc.3701G>C (p.Gly1234Ala)
c.3152G>C (p.Gly1051Ala)
c.2825G>C (p.Gly942Ala)
c.2636G>C (p.Gly879Ala)
n.577-1931C>G
c.*3622-1931C>G (n.*3622-1931C>G)
c.3539G>C (p.Gly1180Ala)
c.2663G>C (p.Gly888Ala)
c.2012G>C (p.Gly671Ala)
c.1616G>C (p.Gly539Ala)
c.1358G>C (p.Gly453Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.75028525G=CA1920306364DUSP29,KAT6Bc.3701G= (p.Gly1234=)
c.3152G= (p.Gly1051=)
c.2825G= (p.Gly942=)
c.2636G= (p.Gly879=)
n.577-1931C=
c.*3622-1931C= (n.*3622-1931C=)
c.3539G= (p.Gly1180=)
c.2663G= (p.Gly888=)
c.2012G= (p.Gly671=)
c.1616G= (p.Gly539=)
c.1358G= (p.Gly453=)
10g.75028525G>TCA377291413DUSP29,KAT6Bc.3701G>T (p.Gly1234Val)
c.3152G>T (p.Gly1051Val)
c.2825G>T (p.Gly942Val)
c.2636G>T (p.Gly879Val)
n.577-1931C>A
c.*3622-1931C>A (n.*3622-1931C>A)
c.3539G>T (p.Gly1180Val)
c.2663G>T (p.Gly888Val)
c.2012G>T (p.Gly671Val)
c.1616G>T (p.Gly539Val)
c.1358G>T (p.Gly453Val)
10g.75028526C>ACA470299482DUSP29,KAT6Bc.3702C>A (p.Gly1234=)
c.3153C>A (p.Gly1051=)
c.2826C>A (p.Gly942=)
c.2637C>A (p.Gly879=)
n.577-1932G>T
c.*3622-1932G>T (n.*3622-1932G>T)
c.3540C>A (p.Gly1180=)
c.2664C>A (p.Gly888=)
c.2013C>A (p.Gly671=)
c.1617C>A (p.Gly539=)
c.1359C>A (p.Gly453=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.75028526C=CA1920306365DUSP29,KAT6Bc.3702C= (p.Gly1234=)
c.3153C= (p.Gly1051=)
c.2826C= (p.Gly942=)
c.2637C= (p.Gly879=)
n.577-1932G=
c.*3622-1932G= (n.*3622-1932G=)
c.3540C= (p.Gly1180=)
c.2664C= (p.Gly888=)
c.2013C= (p.Gly671=)
c.1617C= (p.Gly539=)
c.1359C= (p.Gly453=)
10g.75028526C>GCA470299480DUSP29,KAT6Bc.3702C>G (p.Gly1234=)
c.3153C>G (p.Gly1051=)
c.2826C>G (p.Gly942=)
c.2637C>G (p.Gly879=)
n.577-1932G>C
c.*3622-1932G>C (n.*3622-1932G>C)
c.3540C>G (p.Gly1180=)
c.2664C>G (p.Gly888=)
c.2013C>G (p.Gly671=)
c.1617C>G (p.Gly539=)
c.1359C>G (p.Gly453=)
10g.75028526C>TCA470299481DUSP29,KAT6Bc.3702C>T (p.Gly1234=)
c.3153C>T (p.Gly1051=)
c.2826C>T (p.Gly942=)
c.2637C>T (p.Gly879=)
n.577-1932G>A
c.*3622-1932G>A (n.*3622-1932G>A)
c.3540C>T (p.Gly1180=)
c.2664C>T (p.Gly888=)
c.2013C>T (p.Gly671=)
c.1617C>T (p.Gly539=)
c.1359C>T (p.Gly453=)
 ClinVar
10g.75028527A>CCA377291415DUSP29,KAT6Bc.3703A>C (p.Ser1235Arg)
c.3154A>C (p.Ser1052Arg)
c.2827A>C (p.Ser943Arg)
c.2638A>C (p.Ser880Arg)
n.577-1933T>G
c.*3622-1933T>G (n.*3622-1933T>G)
c.3541A>C (p.Ser1181Arg)
c.2665A>C (p.Ser889Arg)
c.2014A>C (p.Ser672Arg)
c.1618A>C (p.Ser540Arg)
c.1360A>C (p.Ser454Arg)
10g.75028527A>GCA377291417DUSP29,KAT6Bc.3703A>G (p.Ser1235Gly)
c.3154A>G (p.Ser1052Gly)
c.2827A>G (p.Ser943Gly)
c.2638A>G (p.Ser880Gly)
n.577-1933T>C
c.*3622-1933T>C (n.*3622-1933T>C)
c.3541A>G (p.Ser1181Gly)
c.2665A>G (p.Ser889Gly)
c.2014A>G (p.Ser672Gly)
c.1618A>G (p.Ser540Gly)
c.1360A>G (p.Ser454Gly)
 gnomAD v4
10g.75028527A>TCA377291419DUSP29,KAT6Bc.3703A>T (p.Ser1235Cys)
c.3154A>T (p.Ser1052Cys)
c.2827A>T (p.Ser943Cys)
c.2638A>T (p.Ser880Cys)
n.577-1933T>A
c.*3622-1933T>A (n.*3622-1933T>A)
c.3541A>T (p.Ser1181Cys)
c.2665A>T (p.Ser889Cys)
c.2014A>T (p.Ser672Cys)
c.1618A>T (p.Ser540Cys)
c.1360A>T (p.Ser454Cys)
10g.75028528G>ACA5564887DUSP29,KAT6Bc.3704G>A (p.Ser1235Asn)
c.3155G>A (p.Ser1052Asn)
c.2828G>A (p.Ser943Asn)
c.2639G>A (p.Ser880Asn)
n.577-1934C>T
c.*3622-1934C>T (n.*3622-1934C>T)
c.3542G>A (p.Ser1181Asn)
c.2666G>A (p.Ser889Asn)
c.2015G>A (p.Ser672Asn)
c.1619G>A (p.Ser540Asn)
c.1361G>A (p.Ser454Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
10g.75028528G>CCA377291422DUSP29,KAT6Bc.3704G>C (p.Ser1235Thr)
c.3155G>C (p.Ser1052Thr)
c.2828G>C (p.Ser943Thr)
c.2639G>C (p.Ser880Thr)
n.577-1934C>G
c.*3622-1934C>G (n.*3622-1934C>G)
c.3542G>C (p.Ser1181Thr)
c.2666G>C (p.Ser889Thr)
c.2015G>C (p.Ser672Thr)
c.1619G>C (p.Ser540Thr)
c.1361G>C (p.Ser454Thr)
10g.75028528G=CA1920306366DUSP29,KAT6Bc.3704G= (p.Ser1235=)
c.3155G= (p.Ser1052=)
c.2828G= (p.Ser943=)
c.2639G= (p.Ser880=)
n.577-1934C=
c.*3622-1934C= (n.*3622-1934C=)
c.3542G= (p.Ser1181=)
c.2666G= (p.Ser889=)
c.2015G= (p.Ser672=)
c.1619G= (p.Ser540=)
c.1361G= (p.Ser454=)
10g.75028528G>TCA377291424DUSP29,KAT6Bc.3704G>T (p.Ser1235Ile)
c.3155G>T (p.Ser1052Ile)
c.2828G>T (p.Ser943Ile)
c.2639G>T (p.Ser880Ile)
n.577-1934C>A
c.*3622-1934C>A (n.*3622-1934C>A)
c.3542G>T (p.Ser1181Ile)
c.2666G>T (p.Ser889Ile)
c.2015G>T (p.Ser672Ile)
c.1619G>T (p.Ser540Ile)
c.1361G>T (p.Ser454Ile)
10g.75028529T>ACA377291425DUSP29,KAT6Bc.3705T>A (p.Ser1235Arg)
c.3156T>A (p.Ser1052Arg)
c.2829T>A (p.Ser943Arg)
c.2640T>A (p.Ser880Arg)
n.577-1935A>T
c.*3622-1935A>T (n.*3622-1935A>T)
c.3543T>A (p.Ser1181Arg)
c.2667T>A (p.Ser889Arg)
c.2016T>A (p.Ser672Arg)
c.1620T>A (p.Ser540Arg)
c.1362T>A (p.Ser454Arg)
10g.75028529T>CCA470299483DUSP29,KAT6Bc.3705T>C (p.Ser1235=)
c.3156T>C (p.Ser1052=)
c.2829T>C (p.Ser943=)
c.2640T>C (p.Ser880=)
n.577-1935A>G
c.*3622-1935A>G (n.*3622-1935A>G)
c.3543T>C (p.Ser1181=)
c.2667T>C (p.Ser889=)
c.2016T>C (p.Ser672=)
c.1620T>C (p.Ser540=)
c.1362T>C (p.Ser454=)
10g.75028529T>GCA377291426DUSP29,KAT6Bc.3705T>G (p.Ser1235Arg)
c.3156T>G (p.Ser1052Arg)
c.2829T>G (p.Ser943Arg)
c.2640T>G (p.Ser880Arg)
n.577-1935A>C
c.*3622-1935A>C (n.*3622-1935A>C)
c.3543T>G (p.Ser1181Arg)
c.2667T>G (p.Ser889Arg)
c.2016T>G (p.Ser672Arg)
c.1620T>G (p.Ser540Arg)
c.1362T>G (p.Ser454Arg)
10g.75028530A>CCA377291429DUSP29,KAT6Bc.3706A>C (p.Lys1236Gln)
c.3157A>C (p.Lys1053Gln)
c.2830A>C (p.Lys944Gln)
c.2641A>C (p.Lys881Gln)
n.577-1936T>G
c.*3622-1936T>G (n.*3622-1936T>G)
c.3544A>C (p.Lys1182Gln)
c.2668A>C (p.Lys890Gln)
c.2017A>C (p.Lys673Gln)
c.1621A>C (p.Lys541Gln)
c.1363A>C (p.Lys455Gln)
10g.75028530A>GCA377291431DUSP29,KAT6Bc.3706A>G (p.Lys1236Glu)
c.3157A>G (p.Lys1053Glu)
c.2830A>G (p.Lys944Glu)
c.2641A>G (p.Lys881Glu)
n.577-1936T>C
c.*3622-1936T>C (n.*3622-1936T>C)
c.3544A>G (p.Lys1182Glu)
c.2668A>G (p.Lys890Glu)
c.2017A>G (p.Lys673Glu)
c.1621A>G (p.Lys541Glu)
c.1363A>G (p.Lys455Glu)
 gnomAD v4
10g.75028530A>TCA377291432DUSP29,KAT6Bc.3706A>T (p.Lys1236Ter)
c.3157A>T (p.Lys1053Ter)
c.2830A>T (p.Lys944Ter)
c.2641A>T (p.Lys881Ter)
n.577-1936T>A
c.*3622-1936T>A (n.*3622-1936T>A)
c.3544A>T (p.Lys1182Ter)
c.2668A>T (p.Lys890Ter)
c.2017A>T (p.Lys673Ter)
c.1621A>T (p.Lys541Ter)
c.1363A>T (p.Lys455Ter)
10g.75028531A=CA1920306367DUSP29,KAT6Bc.3707A= (p.Lys1236=)
c.3158A= (p.Lys1053=)
c.2831A= (p.Lys944=)
c.2642A= (p.Lys881=)
n.577-1937T=
c.*3622-1937T= (n.*3622-1937T=)
c.3545A= (p.Lys1182=)
c.2669A= (p.Lys890=)
c.2018A= (p.Lys673=)
c.1622A= (p.Lys541=)
c.1364A= (p.Lys455=)
10g.75028531A>CCA377291436DUSP29,KAT6Bc.3707A>C (p.Lys1236Thr)
c.3158A>C (p.Lys1053Thr)
c.2831A>C (p.Lys944Thr)
c.2642A>C (p.Lys881Thr)
n.577-1937T>G
c.*3622-1937T>G (n.*3622-1937T>G)
c.3545A>C (p.Lys1182Thr)
c.2669A>C (p.Lys890Thr)
c.2018A>C (p.Lys673Thr)
c.1622A>C (p.Lys541Thr)
c.1364A>C (p.Lys455Thr)
10g.75028531A>GCA5564888DUSP29,KAT6Bc.3707A>G (p.Lys1236Arg)
c.3158A>G (p.Lys1053Arg)
c.2831A>G (p.Lys944Arg)
c.2642A>G (p.Lys881Arg)
n.577-1937T>C
c.*3622-1937T>C (n.*3622-1937T>C)
c.3545A>G (p.Lys1182Arg)
c.2669A>G (p.Lys890Arg)
c.2018A>G (p.Lys673Arg)
c.1622A>G (p.Lys541Arg)
c.1364A>G (p.Lys455Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.75028531A>TCA377291434DUSP29,KAT6Bc.3707A>T (p.Lys1236Ile)
c.3158A>T (p.Lys1053Ile)
c.2831A>T (p.Lys944Ile)
c.2642A>T (p.Lys881Ile)
n.577-1937T>A
c.*3622-1937T>A (n.*3622-1937T>A)
c.3545A>T (p.Lys1182Ile)
c.2669A>T (p.Lys890Ile)
c.2018A>T (p.Lys673Ile)
c.1622A>T (p.Lys541Ile)
c.1364A>T (p.Lys455Ile)
10g.75028532A>CCA377291439DUSP29,KAT6Bc.3708A>C (p.Lys1236Asn)
c.3159A>C (p.Lys1053Asn)
c.2832A>C (p.Lys944Asn)
c.2643A>C (p.Lys881Asn)
n.577-1938T>G
c.*3622-1938T>G (n.*3622-1938T>G)
c.3546A>C (p.Lys1182Asn)
c.2670A>C (p.Lys890Asn)
c.2019A>C (p.Lys673Asn)
c.1623A>C (p.Lys541Asn)
c.1365A>C (p.Lys455Asn)
10g.75028532A>GCA470299484DUSP29,KAT6Bc.3708A>G (p.Lys1236=)
c.3159A>G (p.Lys1053=)
c.2832A>G (p.Lys944=)
c.2643A>G (p.Lys881=)
n.577-1938T>C
c.*3622-1938T>C (n.*3622-1938T>C)
c.3546A>G (p.Lys1182=)
c.2670A>G (p.Lys890=)
c.2019A>G (p.Lys673=)
c.1623A>G (p.Lys541=)
c.1365A>G (p.Lys455=)
10g.75028532A>TCA377291438DUSP29,KAT6Bc.3708A>T (p.Lys1236Asn)
c.3159A>T (p.Lys1053Asn)
c.2832A>T (p.Lys944Asn)
c.2643A>T (p.Lys881Asn)
n.577-1938T>A
c.*3622-1938T>A (n.*3622-1938T>A)
c.3546A>T (p.Lys1182Asn)
c.2670A>T (p.Lys890Asn)
c.2019A>T (p.Lys673Asn)
c.1623A>T (p.Lys541Asn)
c.1365A>T (p.Lys455Asn)
10g.75028533G>ACA377291441DUSP29,KAT6Bc.3709G>A (p.Asp1237Asn)
c.3160G>A (p.Asp1054Asn)
c.2833G>A (p.Asp945Asn)
c.2644G>A (p.Asp882Asn)
n.577-1939C>T
c.*3622-1939C>T (n.*3622-1939C>T)
c.3547G>A (p.Asp1183Asn)
c.2671G>A (p.Asp891Asn)
c.2020G>A (p.Asp674Asn)
c.1624G>A (p.Asp542Asn)
c.1366G>A (p.Asp456Asn)
10g.75028533G>CCA377291443DUSP29,KAT6Bc.3709G>C (p.Asp1237His)
c.3160G>C (p.Asp1054His)
c.2833G>C (p.Asp945His)
c.2644G>C (p.Asp882His)
n.577-1939C>G
c.*3622-1939C>G (n.*3622-1939C>G)
c.3547G>C (p.Asp1183His)
c.2671G>C (p.Asp891His)
c.2020G>C (p.Asp674His)
c.1624G>C (p.Asp542His)
c.1366G>C (p.Asp456His)
10g.75028533G>TCA377291444DUSP29,KAT6Bc.3709G>T (p.Asp1237Tyr)
c.3160G>T (p.Asp1054Tyr)
c.2833G>T (p.Asp945Tyr)
c.2644G>T (p.Asp882Tyr)
n.577-1939C>A
c.*3622-1939C>A (n.*3622-1939C>A)
c.3547G>T (p.Asp1183Tyr)
c.2671G>T (p.Asp891Tyr)
c.2020G>T (p.Asp674Tyr)
c.1624G>T (p.Asp542Tyr)
c.1366G>T (p.Asp456Tyr)
10g.75028534A>CCA377291448DUSP29,KAT6Bc.3710A>C (p.Asp1237Ala)
c.3161A>C (p.Asp1054Ala)
c.2834A>C (p.Asp945Ala)
c.2645A>C (p.Asp882Ala)
n.577-1940T>G
c.*3622-1940T>G (n.*3622-1940T>G)
c.3548A>C (p.Asp1183Ala)
c.2672A>C (p.Asp891Ala)
c.2021A>C (p.Asp674Ala)
c.1625A>C (p.Asp542Ala)
c.1367A>C (p.Asp456Ala)
10g.75028534A>GCA377291449DUSP29,KAT6Bc.3710A>G (p.Asp1237Gly)
c.3161A>G (p.Asp1054Gly)
c.2834A>G (p.Asp945Gly)
c.2645A>G (p.Asp882Gly)
n.577-1940T>C
c.*3622-1940T>C (n.*3622-1940T>C)
c.3548A>G (p.Asp1183Gly)
c.2672A>G (p.Asp891Gly)
c.2021A>G (p.Asp674Gly)
c.1625A>G (p.Asp542Gly)
c.1367A>G (p.Asp456Gly)
10g.75028534A>TCA377291451DUSP29,KAT6Bc.3710A>T (p.Asp1237Val)
c.3161A>T (p.Asp1054Val)
c.2834A>T (p.Asp945Val)
c.2645A>T (p.Asp882Val)
n.577-1940T>A
c.*3622-1940T>A (n.*3622-1940T>A)
c.3548A>T (p.Asp1183Val)
c.2672A>T (p.Asp891Val)
c.2021A>T (p.Asp674Val)
c.1625A>T (p.Asp542Val)
c.1367A>T (p.Asp456Val)
10g.75028535C>ACA377291454DUSP29,KAT6Bc.3711C>A (p.Asp1237Glu)
c.3162C>A (p.Asp1054Glu)
c.2835C>A (p.Asp945Glu)
c.2646C>A (p.Asp882Glu)
n.577-1941G>T
c.*3622-1941G>T (n.*3622-1941G>T)
c.3549C>A (p.Asp1183Glu)
c.2673C>A (p.Asp891Glu)
c.2022C>A (p.Asp674Glu)
c.1626C>A (p.Asp542Glu)
c.1368C>A (p.Asp456Glu)
10g.75028535C>GCA377291455DUSP29,KAT6Bc.3711C>G (p.Asp1237Glu)
c.3162C>G (p.Asp1054Glu)
c.2835C>G (p.Asp945Glu)
c.2646C>G (p.Asp882Glu)
n.577-1941G>C
c.*3622-1941G>C (n.*3622-1941G>C)
c.3549C>G (p.Asp1183Glu)
c.2673C>G (p.Asp891Glu)
c.2022C>G (p.Asp674Glu)
c.1626C>G (p.Asp542Glu)
c.1368C>G (p.Asp456Glu)
10g.75028535C>TCA470299485DUSP29,KAT6Bc.3711C>T (p.Asp1237=)
c.3162C>T (p.Asp1054=)
c.2835C>T (p.Asp945=)
c.2646C>T (p.Asp882=)
n.577-1941G>A
c.*3622-1941G>A (n.*3622-1941G>A)
c.3549C>T (p.Asp1183=)
c.2673C>T (p.Asp891=)
c.2022C>T (p.Asp674=)
c.1626C>T (p.Asp542=)
c.1368C>T (p.Asp456=)
 dbSNP
10g.75028536A>CCA377291457DUSP29,KAT6Bc.3712A>C (p.Asn1238His)
c.3163A>C (p.Asn1055His)
c.2836A>C (p.Asn946His)
c.2647A>C (p.Asn883His)
n.577-1942T>G
c.*3622-1942T>G (n.*3622-1942T>G)
c.3550A>C (p.Asn1184His)
c.2674A>C (p.Asn892His)
c.2023A>C (p.Asn675His)
c.1627A>C (p.Asn543His)
c.1369A>C (p.Asn457His)
10g.75028536A>GCA377291459DUSP29,KAT6Bc.3712A>G (p.Asn1238Asp)
c.3163A>G (p.Asn1055Asp)
c.2836A>G (p.Asn946Asp)
c.2647A>G (p.Asn883Asp)
n.577-1942T>C
c.*3622-1942T>C (n.*3622-1942T>C)
c.3550A>G (p.Asn1184Asp)
c.2674A>G (p.Asn892Asp)
c.2023A>G (p.Asn675Asp)
c.1627A>G (p.Asn543Asp)
c.1369A>G (p.Asn457Asp)
 ClinVar
10g.75028536A>TCA377291461DUSP29,KAT6Bc.3712A>T (p.Asn1238Tyr)
c.3163A>T (p.Asn1055Tyr)
c.2836A>T (p.Asn946Tyr)
c.2647A>T (p.Asn883Tyr)
n.577-1942T>A
c.*3622-1942T>A (n.*3622-1942T>A)
c.3550A>T (p.Asn1184Tyr)
c.2674A>T (p.Asn892Tyr)
c.2023A>T (p.Asn675Tyr)
c.1627A>T (p.Asn543Tyr)
c.1369A>T (p.Asn457Tyr)
10g.75028537A>CCA377291467DUSP29,KAT6Bc.3713A>C (p.Asn1238Thr)
c.3164A>C (p.Asn1055Thr)
c.2837A>C (p.Asn946Thr)
c.2648A>C (p.Asn883Thr)
n.577-1943T>G
c.*3622-1943T>G (n.*3622-1943T>G)
c.3551A>C (p.Asn1184Thr)
c.2675A>C (p.Asn892Thr)
c.2024A>C (p.Asn675Thr)
c.1628A>C (p.Asn543Thr)
c.1370A>C (p.Asn457Thr)
10g.75028537A>GCA377291465DUSP29,KAT6Bc.3713A>G (p.Asn1238Ser)
c.3164A>G (p.Asn1055Ser)
c.2837A>G (p.Asn946Ser)
c.2648A>G (p.Asn883Ser)
n.577-1943T>C
c.*3622-1943T>C (n.*3622-1943T>C)
c.3551A>G (p.Asn1184Ser)
c.2675A>G (p.Asn892Ser)
c.2024A>G (p.Asn675Ser)
c.1628A>G (p.Asn543Ser)
c.1370A>G (p.Asn457Ser)
 gnomAD v4
10g.75028537A>TCA377291463DUSP29,KAT6Bc.3713A>T (p.Asn1238Ile)
c.3164A>T (p.Asn1055Ile)
c.2837A>T (p.Asn946Ile)
c.2648A>T (p.Asn883Ile)
n.577-1943T>A
c.*3622-1943T>A (n.*3622-1943T>A)
c.3551A>T (p.Asn1184Ile)
c.2675A>T (p.Asn892Ile)
c.2024A>T (p.Asn675Ile)
c.1628A>T (p.Asn543Ile)
c.1370A>T (p.Asn457Ile)
10g.75028538T>ACA377291469DUSP29,KAT6Bc.3714T>A (p.Asn1238Lys)
c.3165T>A (p.Asn1055Lys)
c.2838T>A (p.Asn946Lys)
c.2649T>A (p.Asn883Lys)
n.577-1944A>T
c.*3622-1944A>T (n.*3622-1944A>T)
c.3552T>A (p.Asn1184Lys)
c.2676T>A (p.Asn892Lys)
c.2025T>A (p.Asn675Lys)
c.1629T>A (p.Asn543Lys)
c.1371T>A (p.Asn457Lys)
10g.75028538T>CCA470299486DUSP29,KAT6Bc.3714T>C (p.Asn1238=)
c.3165T>C (p.Asn1055=)
c.2838T>C (p.Asn946=)
c.2649T>C (p.Asn883=)
n.577-1944A>G
c.*3622-1944A>G (n.*3622-1944A>G)
c.3552T>C (p.Asn1184=)
c.2676T>C (p.Asn892=)
c.2025T>C (p.Asn675=)
c.1629T>C (p.Asn543=)
c.1371T>C (p.Asn457=)
 dbSNP
10g.75028538T>GCA377291470DUSP29,KAT6Bc.3714T>G (p.Asn1238Lys)
c.3165T>G (p.Asn1055Lys)
c.2838T>G (p.Asn946Lys)
c.2649T>G (p.Asn883Lys)
n.577-1944A>C
c.*3622-1944A>C (n.*3622-1944A>C)
c.3552T>G (p.Asn1184Lys)
c.2676T>G (p.Asn892Lys)
c.2025T>G (p.Asn675Lys)
c.1629T>G (p.Asn543Lys)
c.1371T>G (p.Asn457Lys)
10g.75028538T=CA1920306368DUSP29,KAT6Bc.3714T= (p.Asn1238=)
c.3165T= (p.Asn1055=)
c.2838T= (p.Asn946=)
c.2649T= (p.Asn883=)
n.577-1944A=
c.*3622-1944A= (n.*3622-1944A=)
c.3552T= (p.Asn1184=)
c.2676T= (p.Asn892=)
c.2025T= (p.Asn675=)
c.1629T= (p.Asn543=)
c.1371T= (p.Asn457=)
10g.75028539C>ACA377291471DUSP29,KAT6Bc.3715C>A (p.Pro1239Thr)
c.3166C>A (p.Pro1056Thr)
c.2839C>A (p.Pro947Thr)
c.2650C>A (p.Pro884Thr)
n.577-1945G>T
c.*3622-1945G>T (n.*3622-1945G>T)
c.3553C>A (p.Pro1185Thr)
c.2677C>A (p.Pro893Thr)
c.2026C>A (p.Pro676Thr)
c.1630C>A (p.Pro544Thr)
c.1372C>A (p.Pro458Thr)
 gnomAD v4
10g.75028539C>GCA377291473DUSP29,KAT6Bc.3715C>G (p.Pro1239Ala)
c.3166C>G (p.Pro1056Ala)
c.2839C>G (p.Pro947Ala)
c.2650C>G (p.Pro884Ala)
n.577-1945G>C
c.*3622-1945G>C (n.*3622-1945G>C)
c.3553C>G (p.Pro1185Ala)
c.2677C>G (p.Pro893Ala)
c.2026C>G (p.Pro676Ala)
c.1630C>G (p.Pro544Ala)
c.1372C>G (p.Pro458Ala)
10g.75028539C>TCA377291475DUSP29,KAT6Bc.3715C>T (p.Pro1239Ser)
c.3166C>T (p.Pro1056Ser)
c.2839C>T (p.Pro947Ser)
c.2650C>T (p.Pro884Ser)
n.577-1945G>A
c.*3622-1945G>A (n.*3622-1945G>A)
c.3553C>T (p.Pro1185Ser)
c.2677C>T (p.Pro893Ser)
c.2026C>T (p.Pro676Ser)
c.1630C>T (p.Pro544Ser)
c.1372C>T (p.Pro458Ser)
 gnomAD v4
10g.75028540C>ACA377291477DUSP29,KAT6Bc.3716C>A (p.Pro1239His)
c.3167C>A (p.Pro1056His)
c.2840C>A (p.Pro947His)
c.2651C>A (p.Pro884His)
n.577-1946G>T
c.*3622-1946G>T (n.*3622-1946G>T)
c.3554C>A (p.Pro1185His)
c.2678C>A (p.Pro893His)
c.2027C>A (p.Pro676His)
c.1631C>A (p.Pro544His)
c.1373C>A (p.Pro458His)
10g.75028540C>GCA377291479DUSP29,KAT6Bc.3716C>G (p.Pro1239Arg)
c.3167C>G (p.Pro1056Arg)
c.2840C>G (p.Pro947Arg)
c.2651C>G (p.Pro884Arg)
n.577-1946G>C
c.*3622-1946G>C (n.*3622-1946G>C)
c.3554C>G (p.Pro1185Arg)
c.2678C>G (p.Pro893Arg)
c.2027C>G (p.Pro676Arg)
c.1631C>G (p.Pro544Arg)
c.1373C>G (p.Pro458Arg)
10g.75028540C>TCA377291480DUSP29,KAT6Bc.3716C>T (p.Pro1239Leu)
c.3167C>T (p.Pro1056Leu)
c.2840C>T (p.Pro947Leu)
c.2651C>T (p.Pro884Leu)
n.577-1946G>A
c.*3622-1946G>A (n.*3622-1946G>A)
c.3554C>T (p.Pro1185Leu)
c.2678C>T (p.Pro893Leu)
c.2027C>T (p.Pro676Leu)
c.1631C>T (p.Pro544Leu)
c.1373C>T (p.Pro458Leu)
10g.75028541C>ACA470299487DUSP29,KAT6Bc.3717C>A (p.Pro1239=)
c.3168C>A (p.Pro1056=)
c.2841C>A (p.Pro947=)
c.2652C>A (p.Pro884=)
n.577-1947G>T
c.*3622-1947G>T (n.*3622-1947G>T)
c.3555C>A (p.Pro1185=)
c.2679C>A (p.Pro893=)
c.2028C>A (p.Pro676=)
c.1632C>A (p.Pro544=)
c.1374C>A (p.Pro458=)
10g.75028541C=CA1920306369DUSP29,KAT6Bc.3717C= (p.Pro1239=)
c.3168C= (p.Pro1056=)
c.2841C= (p.Pro947=)
c.2652C= (p.Pro884=)
n.577-1947G=
c.*3622-1947G= (n.*3622-1947G=)
c.3555C= (p.Pro1185=)
c.2679C= (p.Pro893=)
c.2028C= (p.Pro676=)
c.1632C= (p.Pro544=)
c.1374C= (p.Pro458=)
10g.75028541C>GCA5564890DUSP29,KAT6Bc.3717C>G (p.Pro1239=)
c.3168C>G (p.Pro1056=)
c.2841C>G (p.Pro947=)
c.2652C>G (p.Pro884=)
n.577-1947G>C
c.*3622-1947G>C (n.*3622-1947G>C)
c.3555C>G (p.Pro1185=)
c.2679C>G (p.Pro893=)
c.2028C>G (p.Pro676=)
c.1632C>G (p.Pro544=)
c.1374C>G (p.Pro458=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.75028541C>TCA5564889DUSP29,KAT6Bc.3717C>T (p.Pro1239=)
c.3168C>T (p.Pro1056=)
c.2841C>T (p.Pro947=)
c.2652C>T (p.Pro884=)
n.577-1947G>A
c.*3622-1947G>A (n.*3622-1947G>A)
c.3555C>T (p.Pro1185=)
c.2679C>T (p.Pro893=)
c.2028C>T (p.Pro676=)
c.1632C>T (p.Pro544=)
c.1374C>T (p.Pro458=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.75028542G>ACA5564891DUSP29,KAT6Bc.3718G>A (p.Glu1240Lys)
c.3169G>A (p.Glu1057Lys)
c.2842G>A (p.Glu948Lys)
c.2653G>A (p.Glu885Lys)
n.577-1948C>T
c.*3622-1948C>T (n.*3622-1948C>T)
c.3556G>A (p.Glu1186Lys)
c.2680G>A (p.Glu894Lys)
c.2029G>A (p.Glu677Lys)
c.1633G>A (p.Glu545Lys)
c.1375G>A (p.Glu459Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.75028542G>CCA377291485DUSP29,KAT6Bc.3718G>C (p.Glu1240Gln)
c.3169G>C (p.Glu1057Gln)
c.2842G>C (p.Glu948Gln)
c.2653G>C (p.Glu885Gln)
n.577-1948C>G
c.*3622-1948C>G (n.*3622-1948C>G)
c.3556G>C (p.Glu1186Gln)
c.2680G>C (p.Glu894Gln)
c.2029G>C (p.Glu677Gln)
c.1633G>C (p.Glu545Gln)
c.1375G>C (p.Glu459Gln)
10g.75028542G=CA1920306370DUSP29,KAT6Bc.3718G= (p.Glu1240=)
c.3169G= (p.Glu1057=)
c.2842G= (p.Glu948=)
c.2653G= (p.Glu885=)
n.577-1948C=
c.*3622-1948C= (n.*3622-1948C=)
c.3556G= (p.Glu1186=)
c.2680G= (p.Glu894=)
c.2029G= (p.Glu677=)
c.1633G= (p.Glu545=)
c.1375G= (p.Glu459=)
10g.75028542G>TCA377291487DUSP29,KAT6Bc.3718G>T (p.Glu1240Ter)
c.3169G>T (p.Glu1057Ter)
c.2842G>T (p.Glu948Ter)
c.2653G>T (p.Glu885Ter)
n.577-1948C>A
c.*3622-1948C>A (n.*3622-1948C>A)
c.3556G>T (p.Glu1186Ter)
c.2680G>T (p.Glu894Ter)
c.2029G>T (p.Glu677Ter)
c.1633G>T (p.Glu545Ter)
c.1375G>T (p.Glu459Ter)
10g.75028543A>CCA377291492DUSP29,KAT6Bc.3719A>C (p.Glu1240Ala)
c.3170A>C (p.Glu1057Ala)
c.2843A>C (p.Glu948Ala)
c.2654A>C (p.Glu885Ala)
n.577-1949T>G
c.*3622-1949T>G (n.*3622-1949T>G)
c.3557A>C (p.Glu1186Ala)
c.2681A>C (p.Glu894Ala)
c.2030A>C (p.Glu677Ala)
c.1634A>C (p.Glu545Ala)
c.1376A>C (p.Glu459Ala)
10g.75028543A>GCA377291491DUSP29,KAT6Bc.3719A>G (p.Glu1240Gly)
c.3170A>G (p.Glu1057Gly)
c.2843A>G (p.Glu948Gly)
c.2654A>G (p.Glu885Gly)
n.577-1949T>C
c.*3622-1949T>C (n.*3622-1949T>C)
c.3557A>G (p.Glu1186Gly)
c.2681A>G (p.Glu894Gly)
c.2030A>G (p.Glu677Gly)
c.1634A>G (p.Glu545Gly)
c.1376A>G (p.Glu459Gly)
 gnomAD v4 COSMIC
10g.75028543A>TCA377291489DUSP29,KAT6Bc.3719A>T (p.Glu1240Val)
c.3170A>T (p.Glu1057Val)
c.2843A>T (p.Glu948Val)
c.2654A>T (p.Glu885Val)
n.577-1949T>A
c.*3622-1949T>A (n.*3622-1949T>A)
c.3557A>T (p.Glu1186Val)
c.2681A>T (p.Glu894Val)
c.2030A>T (p.Glu677Val)
c.1634A>T (p.Glu545Val)
c.1376A>T (p.Glu459Val)
10g.75028544A>CCA377291495DUSP29,KAT6Bc.3720A>C (p.Glu1240Asp)
c.3171A>C (p.Glu1057Asp)
c.2844A>C (p.Glu948Asp)
c.2655A>C (p.Glu885Asp)
n.577-1950T>G
c.*3622-1950T>G (n.*3622-1950T>G)
c.3558A>C (p.Glu1186Asp)
c.2682A>C (p.Glu894Asp)
c.2031A>C (p.Glu677Asp)
c.1635A>C (p.Glu545Asp)
c.1377A>C (p.Glu459Asp)
10g.75028544A>GCA470299488DUSP29,KAT6Bc.3720A>G (p.Glu1240=)
c.3171A>G (p.Glu1057=)
c.2844A>G (p.Glu948=)
c.2655A>G (p.Glu885=)
n.577-1950T>C
c.*3622-1950T>C (n.*3622-1950T>C)
c.3558A>G (p.Glu1186=)
c.2682A>G (p.Glu894=)
c.2031A>G (p.Glu677=)
c.1635A>G (p.Glu545=)
c.1377A>G (p.Glu459=)
10g.75028544A>TCA377291494DUSP29,KAT6Bc.3720A>T (p.Glu1240Asp)
c.3171A>T (p.Glu1057Asp)
c.2844A>T (p.Glu948Asp)
c.2655A>T (p.Glu885Asp)
n.577-1950T>A
c.*3622-1950T>A (n.*3622-1950T>A)
c.3558A>T (p.Glu1186Asp)
c.2682A>T (p.Glu894Asp)
c.2031A>T (p.Glu677Asp)
c.1635A>T (p.Glu545Asp)
c.1377A>T (p.Glu459Asp)
 gnomAD v4
10g.75028545C>ACA377291499DUSP29,KAT6Bc.3721C>A (p.Pro1241Thr)
c.3172C>A (p.Pro1058Thr)
c.2845C>A (p.Pro949Thr)
c.2656C>A (p.Pro886Thr)
n.577-1951G>T
c.*3622-1951G>T (n.*3622-1951G>T)
c.3559C>A (p.Pro1187Thr)
c.2683C>A (p.Pro895Thr)
c.2032C>A (p.Pro678Thr)
c.1636C>A (p.Pro546Thr)
c.1378C>A (p.Pro460Thr)
 gnomAD v4
10g.75028545C>GCA377291500DUSP29,KAT6Bc.3721C>G (p.Pro1241Ala)
c.3172C>G (p.Pro1058Ala)
c.2845C>G (p.Pro949Ala)
c.2656C>G (p.Pro886Ala)
n.577-1951G>C
c.*3622-1951G>C (n.*3622-1951G>C)
c.3559C>G (p.Pro1187Ala)
c.2683C>G (p.Pro895Ala)
c.2032C>G (p.Pro678Ala)
c.1636C>G (p.Pro546Ala)
c.1378C>G (p.Pro460Ala)
10g.75028545C>TCA377291502DUSP29,KAT6Bc.3721C>T (p.Pro1241Ser)
c.3172C>T (p.Pro1058Ser)
c.2845C>T (p.Pro949Ser)
c.2656C>T (p.Pro886Ser)
n.577-1951G>A
c.*3622-1951G>A (n.*3622-1951G>A)
c.3559C>T (p.Pro1187Ser)
c.2683C>T (p.Pro895Ser)
c.2032C>T (p.Pro678Ser)
c.1636C>T (p.Pro546Ser)
c.1378C>T (p.Pro460Ser)
10g.75028546C>ACA377291505DUSP29,KAT6Bc.3722C>A (p.Pro1241His)
c.3173C>A (p.Pro1058His)
c.2846C>A (p.Pro949His)
c.2657C>A (p.Pro886His)
n.577-1952G>T
c.*3622-1952G>T (n.*3622-1952G>T)
c.3560C>A (p.Pro1187His)
c.2684C>A (p.Pro895His)
c.2033C>A (p.Pro678His)
c.1637C>A (p.Pro546His)
c.1379C>A (p.Pro460His)
10g.75028546C>GCA377291506DUSP29,KAT6Bc.3722C>G (p.Pro1241Arg)
c.3173C>G (p.Pro1058Arg)
c.2846C>G (p.Pro949Arg)
c.2657C>G (p.Pro886Arg)
n.577-1952G>C
c.*3622-1952G>C (n.*3622-1952G>C)
c.3560C>G (p.Pro1187Arg)
c.2684C>G (p.Pro895Arg)
c.2033C>G (p.Pro678Arg)
c.1637C>G (p.Pro546Arg)
c.1379C>G (p.Pro460Arg)
 gnomAD v4
10g.75028546C>TCA377291508DUSP29,KAT6Bc.3722C>T (p.Pro1241Leu)
c.3173C>T (p.Pro1058Leu)
c.2846C>T (p.Pro949Leu)
c.2657C>T (p.Pro886Leu)
n.577-1952G>A
c.*3622-1952G>A (n.*3622-1952G>A)
c.3560C>T (p.Pro1187Leu)
c.2684C>T (p.Pro895Leu)
c.2033C>T (p.Pro678Leu)
c.1637C>T (p.Pro546Leu)
c.1379C>T (p.Pro460Leu)
10g.75028547T>ACA470299489DUSP29,KAT6Bc.3723T>A (p.Pro1241=)
c.3174T>A (p.Pro1058=)
c.2847T>A (p.Pro949=)
c.2658T>A (p.Pro886=)
n.577-1953A>T
c.*3622-1953A>T (n.*3622-1953A>T)
c.3561T>A (p.Pro1187=)
c.2685T>A (p.Pro895=)
c.2034T>A (p.Pro678=)
c.1638T>A (p.Pro546=)
c.1380T>A (p.Pro460=)
10g.75028547T>CCA470299490DUSP29,KAT6Bc.3723T>C (p.Pro1241=)
c.3174T>C (p.Pro1058=)
c.2847T>C (p.Pro949=)
c.2658T>C (p.Pro886=)
n.577-1953A>G
c.*3622-1953A>G (n.*3622-1953A>G)
c.3561T>C (p.Pro1187=)
c.2685T>C (p.Pro895=)
c.2034T>C (p.Pro678=)
c.1638T>C (p.Pro546=)
c.1380T>C (p.Pro460=)
10g.75028547T>GCA470299491DUSP29,KAT6Bc.3723T>G (p.Pro1241=)
c.3174T>G (p.Pro1058=)
c.2847T>G (p.Pro949=)
c.2658T>G (p.Pro886=)
n.577-1953A>C
c.*3622-1953A>C (n.*3622-1953A>C)
c.3561T>G (p.Pro1187=)
c.2685T>G (p.Pro895=)
c.2034T>G (p.Pro678=)
c.1638T>G (p.Pro546=)
c.1380T>G (p.Pro460=)
10g.75028548C>ACA377291510DUSP29,KAT6Bc.3724C>A (p.Leu1242Ile)
c.3175C>A (p.Leu1059Ile)
c.2848C>A (p.Leu950Ile)
c.2659C>A (p.Leu887Ile)
n.577-1954G>T
c.*3622-1954G>T (n.*3622-1954G>T)
c.3562C>A (p.Leu1188Ile)
c.2686C>A (p.Leu896Ile)
c.2035C>A (p.Leu679Ile)
c.1639C>A (p.Leu547Ile)
c.1381C>A (p.Leu461Ile)
10g.75028548C=CA1920306371DUSP29,KAT6Bc.3724C= (p.Leu1242=)
c.3175C= (p.Leu1059=)
c.2848C= (p.Leu950=)
c.2659C= (p.Leu887=)
n.577-1954G=
c.*3622-1954G= (n.*3622-1954G=)
c.3562C= (p.Leu1188=)
c.2686C= (p.Leu896=)
c.2035C= (p.Leu679=)
c.1639C= (p.Leu547=)
c.1381C= (p.Leu461=)
10g.75028548C>GCA377291512DUSP29,KAT6Bc.3724C>G (p.Leu1242Val)
c.3175C>G (p.Leu1059Val)
c.2848C>G (p.Leu950Val)
c.2659C>G (p.Leu887Val)
n.577-1954G>C
c.*3622-1954G>C (n.*3622-1954G>C)
c.3562C>G (p.Leu1188Val)
c.2686C>G (p.Leu896Val)
c.2035C>G (p.Leu679Val)
c.1639C>G (p.Leu547Val)
c.1381C>G (p.Leu461Val)
10g.75028548C>TCA470299492DUSP29,KAT6Bc.3724C>T (p.Leu1242=)
c.3175C>T (p.Leu1059=)
c.2848C>T (p.Leu950=)
c.2659C>T (p.Leu887=)
n.577-1954G>A
c.*3622-1954G>A (n.*3622-1954G>A)
c.3562C>T (p.Leu1188=)
c.2686C>T (p.Leu896=)
c.2035C>T (p.Leu679=)
c.1639C>T (p.Leu547=)
c.1381C>T (p.Leu461=)
 dbSNP
10g.75028549T>ACA377291515DUSP29,KAT6Bc.3725T>A (p.Leu1242Gln)
c.3176T>A (p.Leu1059Gln)
c.2849T>A (p.Leu950Gln)
c.2660T>A (p.Leu887Gln)
n.577-1955A>T
c.*3622-1955A>T (n.*3622-1955A>T)
c.3563T>A (p.Leu1188Gln)
c.2687T>A (p.Leu896Gln)
c.2036T>A (p.Leu679Gln)
c.1640T>A (p.Leu547Gln)
c.1382T>A (p.Leu461Gln)
10g.75028549T>CCA377291516DUSP29,KAT6Bc.3725T>C (p.Leu1242Pro)
c.3176T>C (p.Leu1059Pro)
c.2849T>C (p.Leu950Pro)
c.2660T>C (p.Leu887Pro)
n.577-1955A>G
c.*3622-1955A>G (n.*3622-1955A>G)
c.3563T>C (p.Leu1188Pro)
c.2687T>C (p.Leu896Pro)
c.2036T>C (p.Leu679Pro)
c.1640T>C (p.Leu547Pro)
c.1382T>C (p.Leu461Pro)
10g.75028549T>GCA377291517DUSP29,KAT6Bc.3725T>G (p.Leu1242Arg)
c.3176T>G (p.Leu1059Arg)
c.2849T>G (p.Leu950Arg)
c.2660T>G (p.Leu887Arg)
n.577-1955A>C
c.*3622-1955A>C (n.*3622-1955A>C)
c.3563T>G (p.Leu1188Arg)
c.2687T>G (p.Leu896Arg)
c.2036T>G (p.Leu679Arg)
c.1640T>G (p.Leu547Arg)
c.1382T>G (p.Leu461Arg)
 dbSNP gnomAD v4
10g.75028549T=CA1920306372DUSP29,KAT6Bc.3725T= (p.Leu1242=)
c.3176T= (p.Leu1059=)
c.2849T= (p.Leu950=)
c.2660T= (p.Leu887=)
n.577-1955A=
c.*3622-1955A= (n.*3622-1955A=)
c.3563T= (p.Leu1188=)
c.2687T= (p.Leu896=)
c.2036T= (p.Leu679=)
c.1640T= (p.Leu547=)
c.1382T= (p.Leu461=)
10g.75028550A=CA1920306373DUSP29,KAT6Bc.3726A= (p.Leu1242=)
c.3177A= (p.Leu1059=)
c.2850A= (p.Leu950=)
c.2661A= (p.Leu887=)
n.577-1956T=
c.*3622-1956T= (n.*3622-1956T=)
c.3564A= (p.Leu1188=)
c.2688A= (p.Leu896=)
c.2037A= (p.Leu679=)
c.1641A= (p.Leu547=)
c.1383A= (p.Leu461=)
10g.75028550A>CCA470299493DUSP29,KAT6Bc.3726A>C (p.Leu1242=)
c.3177A>C (p.Leu1059=)
c.2850A>C (p.Leu950=)
c.2661A>C (p.Leu887=)
n.577-1956T>G
c.*3622-1956T>G (n.*3622-1956T>G)
c.3564A>C (p.Leu1188=)
c.2688A>C (p.Leu896=)
c.2037A>C (p.Leu679=)
c.1641A>C (p.Leu547=)
c.1383A>C (p.Leu461=)
10g.75028550A>GCA5564892DUSP29,KAT6Bc.3726A>G (p.Leu1242=)
c.3177A>G (p.Leu1059=)
c.2850A>G (p.Leu950=)
c.2661A>G (p.Leu887=)
n.577-1956T>C
c.*3622-1956T>C (n.*3622-1956T>C)
c.3564A>G (p.Leu1188=)
c.2688A>G (p.Leu896=)
c.2037A>G (p.Leu679=)
c.1641A>G (p.Leu547=)
c.1383A>G (p.Leu461=)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.75028550A>TCA470299494DUSP29,KAT6Bc.3726A>T (p.Leu1242=)
c.3177A>T (p.Leu1059=)
c.2850A>T (p.Leu950=)
c.2661A>T (p.Leu887=)
n.577-1956T>A
c.*3622-1956T>A (n.*3622-1956T>A)
c.3564A>T (p.Leu1188=)
c.2688A>T (p.Leu896=)
c.2037A>T (p.Leu679=)
c.1641A>T (p.Leu547=)
c.1383A>T (p.Leu461=)
10g.75028551A>CCA377291524DUSP29,KAT6Bc.3727A>C (p.Lys1243Gln)
c.3178A>C (p.Lys1060Gln)
c.2851A>C (p.Lys951Gln)
c.2662A>C (p.Lys888Gln)
n.577-1957T>G
c.*3622-1957T>G (n.*3622-1957T>G)
c.3565A>C (p.Lys1189Gln)
c.2689A>C (p.Lys897Gln)
c.2038A>C (p.Lys680Gln)
c.1642A>C (p.Lys548Gln)
c.1384A>C (p.Lys462Gln)
10g.75028551A>GCA377291521DUSP29,KAT6Bc.3727A>G (p.Lys1243Glu)
c.3178A>G (p.Lys1060Glu)
c.2851A>G (p.Lys951Glu)
c.2662A>G (p.Lys888Glu)
n.577-1957T>C
c.*3622-1957T>C (n.*3622-1957T>C)
c.3565A>G (p.Lys1189Glu)
c.2689A>G (p.Lys897Glu)
c.2038A>G (p.Lys680Glu)
c.1642A>G (p.Lys548Glu)
c.1384A>G (p.Lys462Glu)
10g.75028551A>TCA377291523DUSP29,KAT6Bc.3727A>T (p.Lys1243Ter)
c.3178A>T (p.Lys1060Ter)
c.2851A>T (p.Lys951Ter)
c.2662A>T (p.Lys888Ter)
n.577-1957T>A
c.*3622-1957T>A (n.*3622-1957T>A)
c.3565A>T (p.Lys1189Ter)
c.2689A>T (p.Lys897Ter)
c.2038A>T (p.Lys680Ter)
c.1642A>T (p.Lys548Ter)
c.1384A>T (p.Lys462Ter)
10g.75028552A=CA1920306374DUSP29,KAT6Bc.3728A= (p.Lys1243=)
c.3179A= (p.Lys1060=)
c.2852A= (p.Lys951=)
c.2663A= (p.Lys888=)
n.577-1958T=
c.*3622-1958T= (n.*3622-1958T=)
c.3566A= (p.Lys1189=)
c.2690A= (p.Lys897=)
c.2039A= (p.Lys680=)
c.1643A= (p.Lys548=)
c.1385A= (p.Lys462=)
10g.75028552A>CCA377291525DUSP29,KAT6Bc.3728A>C (p.Lys1243Thr)
c.3179A>C (p.Lys1060Thr)
c.2852A>C (p.Lys951Thr)
c.2663A>C (p.Lys888Thr)
n.577-1958T>G
c.*3622-1958T>G (n.*3622-1958T>G)
c.3566A>C (p.Lys1189Thr)
c.2690A>C (p.Lys897Thr)
c.2039A>C (p.Lys680Thr)
c.1643A>C (p.Lys548Thr)
c.1385A>C (p.Lys462Thr)
10g.75028552A>GCA5564893DUSP29,KAT6Bc.3728A>G (p.Lys1243Arg)
c.3179A>G (p.Lys1060Arg)
c.2852A>G (p.Lys951Arg)
c.2663A>G (p.Lys888Arg)
n.577-1958T>C
c.*3622-1958T>C (n.*3622-1958T>C)
c.3566A>G (p.Lys1189Arg)
c.2690A>G (p.Lys897Arg)
c.2039A>G (p.Lys680Arg)
c.1643A>G (p.Lys548Arg)
c.1385A>G (p.Lys462Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.75028552A>TCA377291527DUSP29,KAT6Bc.3728A>T (p.Lys1243Met)
c.3179A>T (p.Lys1060Met)
c.2852A>T (p.Lys951Met)
c.2663A>T (p.Lys888Met)
n.577-1958T>A
c.*3622-1958T>A (n.*3622-1958T>A)
c.3566A>T (p.Lys1189Met)
c.2690A>T (p.Lys897Met)
c.2039A>T (p.Lys680Met)
c.1643A>T (p.Lys548Met)
c.1385A>T (p.Lys462Met)
10g.75028553G>ACA470299495DUSP29,KAT6Bc.3729G>A (p.Lys1243=)
c.3180G>A (p.Lys1060=)
c.2853G>A (p.Lys951=)
c.2664G>A (p.Lys888=)
n.577-1959C>T
c.*3622-1959C>T (n.*3622-1959C>T)
c.3567G>A (p.Lys1189=)
c.2691G>A (p.Lys897=)
c.2040G>A (p.Lys680=)
c.1644G>A (p.Lys548=)
c.1386G>A (p.Lys462=)
 gnomAD v4
10g.75028553G>CCA5564894DUSP29,KAT6Bc.3729G>C (p.Lys1243Asn)
c.3180G>C (p.Lys1060Asn)
c.2853G>C (p.Lys951Asn)
c.2664G>C (p.Lys888Asn)
n.577-1959C>G
c.*3622-1959C>G (n.*3622-1959C>G)
c.3567G>C (p.Lys1189Asn)
c.2691G>C (p.Lys897Asn)
c.2040G>C (p.Lys680Asn)
c.1644G>C (p.Lys548Asn)
c.1386G>C (p.Lys462Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.75028553G=CA1920306375DUSP29,KAT6Bc.3729G= (p.Lys1243=)
c.3180G= (p.Lys1060=)
c.2853G= (p.Lys951=)
c.2664G= (p.Lys888=)
n.577-1959C=
c.*3622-1959C= (n.*3622-1959C=)
c.3567G= (p.Lys1189=)
c.2691G= (p.Lys897=)
c.2040G= (p.Lys680=)
c.1644G= (p.Lys548=)
c.1386G= (p.Lys462=)
10g.75028553G>TCA377291529DUSP29,KAT6Bc.3729G>T (p.Lys1243Asn)
c.3180G>T (p.Lys1060Asn)
c.2853G>T (p.Lys951Asn)
c.2664G>T (p.Lys888Asn)
n.577-1959C>A
c.*3622-1959C>A (n.*3622-1959C>A)
c.3567G>T (p.Lys1189Asn)
c.2691G>T (p.Lys897Asn)
c.2040G>T (p.Lys680Asn)
c.1644G>T (p.Lys548Asn)
c.1386G>T (p.Lys462Asn)
 dbSNP gnomAD v2 gnomAD v4
10g.75028554T>ACA377291532DUSP29,KAT6Bc.3730T>A (p.Cys1244Ser)
c.3181T>A (p.Cys1061Ser)
c.2854T>A (p.Cys952Ser)
c.2665T>A (p.Cys889Ser)
n.577-1960A>T
c.*3622-1960A>T (n.*3622-1960A>T)
c.3568T>A (p.Cys1190Ser)
c.2692T>A (p.Cys898Ser)
c.2041T>A (p.Cys681Ser)
c.1645T>A (p.Cys549Ser)
c.1387T>A (p.Cys463Ser)
10g.75028554T>CCA5564895DUSP29,KAT6Bc.3730T>C (p.Cys1244Arg)
c.3181T>C (p.Cys1061Arg)
c.2854T>C (p.Cys952Arg)
c.2665T>C (p.Cys889Arg)
n.577-1960A>G
c.*3622-1960A>G (n.*3622-1960A>G)
c.3568T>C (p.Cys1190Arg)
c.2692T>C (p.Cys898Arg)
c.2041T>C (p.Cys681Arg)
c.1645T>C (p.Cys549Arg)
c.1387T>C (p.Cys463Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.75028554T>GCA377291534DUSP29,KAT6Bc.3730T>G (p.Cys1244Gly)
c.3181T>G (p.Cys1061Gly)
c.2854T>G (p.Cys952Gly)
c.2665T>G (p.Cys889Gly)
n.577-1960A>C
c.*3622-1960A>C (n.*3622-1960A>C)
c.3568T>G (p.Cys1190Gly)
c.2692T>G (p.Cys898Gly)
c.2041T>G (p.Cys681Gly)
c.1645T>G (p.Cys549Gly)
c.1387T>G (p.Cys463Gly)
 ClinVar dbSNP gnomAD v3 gnomAD v4
10g.75028554T=CA1920306376DUSP29,KAT6Bc.3730T= (p.Cys1244=)
c.3181T= (p.Cys1061=)
c.2854T= (p.Cys952=)
c.2665T= (p.Cys889=)
n.577-1960A=
c.*3622-1960A= (n.*3622-1960A=)
c.3568T= (p.Cys1190=)
c.2692T= (p.Cys898=)
c.2041T= (p.Cys681=)
c.1645T= (p.Cys549=)
c.1387T= (p.Cys463=)
10g.75028554_75028555insAATTACA594709541DUSP29,KAT6Bc.3730_3731insAATTA (p.Cys1244Ter)
c.3181_3182insAATTA (p.Cys1061Ter)
c.2854_2855insAATTA (p.Cys952Ter)
c.2665_2666insAATTA (p.Cys889Ter)
n.577-1961_577-1960insTAATT
c.*3622-1961_*3622-1960insTAATT (n.*3622-1961_*3622-1960insTAATT)
c.3568_3569insAATTA (p.Cys1190Ter)
c.2692_2693insAATTA (p.Cys898Ter)
c.2041_2042insAATTA (p.Cys681Ter)
c.1645_1646insAATTA (p.Cys549Ter)
c.1387_1388insAATTA (p.Cys463Ter)
 gnomAD v2
10g.75028555G>ACA377291537DUSP29,KAT6Bc.3731G>A (p.Cys1244Tyr)
c.3182G>A (p.Cys1061Tyr)
c.2855G>A (p.Cys952Tyr)
c.2666G>A (p.Cys889Tyr)
n.577-1961C>T
c.*3622-1961C>T (n.*3622-1961C>T)
c.3569G>A (p.Cys1190Tyr)
c.2693G>A (p.Cys898Tyr)
c.2042G>A (p.Cys681Tyr)
c.1646G>A (p.Cys549Tyr)
c.1388G>A (p.Cys463Tyr)
 dbSNP
10g.75028555G>CCA377291539DUSP29,KAT6Bc.3731G>C (p.Cys1244Ser)
c.3182G>C (p.Cys1061Ser)
c.2855G>C (p.Cys952Ser)
c.2666G>C (p.Cys889Ser)
n.577-1961C>G
c.*3622-1961C>G (n.*3622-1961C>G)
c.3569G>C (p.Cys1190Ser)
c.2693G>C (p.Cys898Ser)
c.2042G>C (p.Cys681Ser)
c.1646G>C (p.Cys549Ser)
c.1388G>C (p.Cys463Ser)
10g.75028555G=CA1920306377DUSP29,KAT6Bc.3731G= (p.Cys1244=)
c.3182G= (p.Cys1061=)
c.2855G= (p.Cys952=)
c.2666G= (p.Cys889=)
n.577-1961C=
c.*3622-1961C= (n.*3622-1961C=)
c.3569G= (p.Cys1190=)
c.2693G= (p.Cys898=)
c.2042G= (p.Cys681=)
c.1646G= (p.Cys549=)
c.1388G= (p.Cys463=)
10g.75028555G>TCA377291541DUSP29,KAT6Bc.3731G>T (p.Cys1244Phe)
c.3182G>T (p.Cys1061Phe)
c.2855G>T (p.Cys952Phe)
c.2666G>T (p.Cys889Phe)
n.577-1961C>A
c.*3622-1961C>A (n.*3622-1961C>A)
c.3569G>T (p.Cys1190Phe)
c.2693G>T (p.Cys898Phe)
c.2042G>T (p.Cys681Phe)
c.1646G>T (p.Cys549Phe)
c.1388G>T (p.Cys463Phe)
10g.75028556C>ACA377291543DUSP29,KAT6Bc.3732C>A (p.Cys1244Ter)
c.3183C>A (p.Cys1061Ter)
c.2856C>A (p.Cys952Ter)
c.2667C>A (p.Cys889Ter)
n.577-1962G>T
c.*3622-1962G>T (n.*3622-1962G>T)
c.3570C>A (p.Cys1190Ter)
c.2694C>A (p.Cys898Ter)
c.2043C>A (p.Cys681Ter)
c.1647C>A (p.Cys549Ter)
c.1389C>A (p.Cys463Ter)
10g.75028556C>GCA377291544DUSP29,KAT6Bc.3732C>G (p.Cys1244Trp)
c.3183C>G (p.Cys1061Trp)
c.2856C>G (p.Cys952Trp)
c.2667C>G (p.Cys889Trp)
n.577-1962G>C
c.*3622-1962G>C (n.*3622-1962G>C)
c.3570C>G (p.Cys1190Trp)
c.2694C>G (p.Cys898Trp)
c.2043C>G (p.Cys681Trp)
c.1647C>G (p.Cys549Trp)
c.1389C>G (p.Cys463Trp)
 dbSNP
10g.75028556C>TCA470299496DUSP29,KAT6Bc.3732C>T (p.Cys1244=)
c.3183C>T (p.Cys1061=)
c.2856C>T (p.Cys952=)
c.2667C>T (p.Cys889=)
n.577-1962G>A
c.*3622-1962G>A (n.*3622-1962G>A)
c.3570C>T (p.Cys1190=)
c.2694C>T (p.Cys898=)
c.2043C>T (p.Cys681=)
c.1647C>T (p.Cys549=)
c.1389C>T (p.Cys463=)
 gnomAD v4
10g.75028557A>CCA377291549DUSP29,KAT6Bc.3733A>C (p.Lys1245Gln)
c.3184A>C (p.Lys1062Gln)
c.2857A>C (p.Lys953Gln)
c.2668A>C (p.Lys890Gln)
n.577-1963T>G
c.*3622-1963T>G (n.*3622-1963T>G)
c.3571A>C (p.Lys1191Gln)
c.2695A>C (p.Lys899Gln)
c.2044A>C (p.Lys682Gln)
c.1648A>C (p.Lys550Gln)
c.1390A>C (p.Lys464Gln)
10g.75028557A>GCA377291550DUSP29,KAT6Bc.3733A>G (p.Lys1245Glu)
c.3184A>G (p.Lys1062Glu)
c.2857A>G (p.Lys953Glu)
c.2668A>G (p.Lys890Glu)
n.577-1963T>C
c.*3622-1963T>C (n.*3622-1963T>C)
c.3571A>G (p.Lys1191Glu)
c.2695A>G (p.Lys899Glu)
c.2044A>G (p.Lys682Glu)
c.1648A>G (p.Lys550Glu)
c.1390A>G (p.Lys464Glu)
 gnomAD v4
10g.75028557A>TCA377291547DUSP29,KAT6Bc.3733A>T (p.Lys1245Ter)
c.3184A>T (p.Lys1062Ter)
c.2857A>T (p.Lys953Ter)
c.2668A>T (p.Lys890Ter)
n.577-1963T>A
c.*3622-1963T>A (n.*3622-1963T>A)
c.3571A>T (p.Lys1191Ter)
c.2695A>T (p.Lys899Ter)
c.2044A>T (p.Lys682Ter)
c.1648A>T (p.Lys550Ter)
c.1390A>T (p.Lys464Ter)
10g.75028558A>CCA377291552DUSP29,KAT6Bc.3734A>C (p.Lys1245Thr)
c.3185A>C (p.Lys1062Thr)
c.2858A>C (p.Lys953Thr)
c.2669A>C (p.Lys890Thr)
n.577-1964T>G
c.*3622-1964T>G (n.*3622-1964T>G)
c.3572A>C (p.Lys1191Thr)
c.2696A>C (p.Lys899Thr)
c.2045A>C (p.Lys682Thr)
c.1649A>C (p.Lys550Thr)
c.1391A>C (p.Lys464Thr)
10g.75028558A>GCA377291555DUSP29,KAT6Bc.3734A>G (p.Lys1245Arg)
c.3185A>G (p.Lys1062Arg)
c.2858A>G (p.Lys953Arg)
c.2669A>G (p.Lys890Arg)
n.577-1964T>C
c.*3622-1964T>C (n.*3622-1964T>C)
c.3572A>G (p.Lys1191Arg)
c.2696A>G (p.Lys899Arg)
c.2045A>G (p.Lys682Arg)
c.1649A>G (p.Lys550Arg)
c.1391A>G (p.Lys464Arg)
10g.75028558A>TCA377291554DUSP29,KAT6Bc.3734A>T (p.Lys1245Ile)
c.3185A>T (p.Lys1062Ile)
c.2858A>T (p.Lys953Ile)
c.2669A>T (p.Lys890Ile)
n.577-1964T>A
c.*3622-1964T>A (n.*3622-1964T>A)
c.3572A>T (p.Lys1191Ile)
c.2696A>T (p.Lys899Ile)
c.2045A>T (p.Lys682Ile)
c.1649A>T (p.Lys550Ile)
c.1391A>T (p.Lys464Ile)
 dbSNP
10g.75028559A>CCA377291556DUSP29,KAT6Bc.3735A>C (p.Lys1245Asn)
c.3186A>C (p.Lys1062Asn)
c.2859A>C (p.Lys953Asn)
c.2670A>C (p.Lys890Asn)
n.577-1965T>G
c.*3622-1965T>G (n.*3622-1965T>G)
c.3573A>C (p.Lys1191Asn)
c.2697A>C (p.Lys899Asn)
c.2046A>C (p.Lys682Asn)
c.1650A>C (p.Lys550Asn)
c.1392A>C (p.Lys464Asn)
10g.75028559A>GCA470299497DUSP29,KAT6Bc.3735A>G (p.Lys1245=)
c.3186A>G (p.Lys1062=)
c.2859A>G (p.Lys953=)
c.2670A>G (p.Lys890=)
n.577-1965T>C
c.*3622-1965T>C (n.*3622-1965T>C)
c.3573A>G (p.Lys1191=)
c.2697A>G (p.Lys899=)
c.2046A>G (p.Lys682=)
c.1650A>G (p.Lys550=)
c.1392A>G (p.Lys464=)
10g.75028559A>TCA377291558DUSP29,KAT6Bc.3735A>T (p.Lys1245Asn)
c.3186A>T (p.Lys1062Asn)
c.2859A>T (p.Lys953Asn)
c.2670A>T (p.Lys890Asn)
n.577-1965T>A
c.*3622-1965T>A (n.*3622-1965T>A)
c.3573A>T (p.Lys1191Asn)
c.2697A>T (p.Lys899Asn)
c.2046A>T (p.Lys682Asn)
c.1650A>T (p.Lys550Asn)
c.1392A>T (p.Lys464Asn)
10g.75028560C>ACA377291561DUSP29,KAT6Bc.3736C>A (p.Gln1246Lys)
c.3187C>A (p.Gln1063Lys)
c.2860C>A (p.Gln954Lys)
c.2671C>A (p.Gln891Lys)
n.577-1966G>T
c.*3622-1966G>T (n.*3622-1966G>T)
c.3574C>A (p.Gln1192Lys)
c.2698C>A (p.Gln900Lys)
c.2047C>A (p.Gln683Lys)
c.1651C>A (p.Gln551Lys)
c.1393C>A (p.Gln465Lys)
10g.75028560C>GCA377291562DUSP29,KAT6Bc.3736C>G (p.Gln1246Glu)
c.3187C>G (p.Gln1063Glu)
c.2860C>G (p.Gln954Glu)
c.2671C>G (p.Gln891Glu)
n.577-1966G>C
c.*3622-1966G>C (n.*3622-1966G>C)
c.3574C>G (p.Gln1192Glu)
c.2698C>G (p.Gln900Glu)
c.2047C>G (p.Gln683Glu)
c.1651C>G (p.Gln551Glu)
c.1393C>G (p.Gln465Glu)
10g.75028560C>TCA377291563DUSP29,KAT6Bc.3736C>T (p.Gln1246Ter)
c.3187C>T (p.Gln1063Ter)
c.2860C>T (p.Gln954Ter)
c.2671C>T (p.Gln891Ter)
n.577-1966G>A
c.*3622-1966G>A (n.*3622-1966G>A)
c.3574C>T (p.Gln1192Ter)
c.2698C>T (p.Gln900Ter)
c.2047C>T (p.Gln683Ter)
c.1651C>T (p.Gln551Ter)
c.1393C>T (p.Gln465Ter)
10g.75028561A=CA1920306378DUSP29,KAT6Bc.3737A= (p.Gln1246=)
c.3188A= (p.Gln1063=)
c.2861A= (p.Gln954=)
c.2672A= (p.Gln891=)
n.577-1967T=
c.*3622-1967T= (n.*3622-1967T=)
c.3575A= (p.Gln1192=)
c.2699A= (p.Gln900=)
c.2048A= (p.Gln683=)
c.1652A= (p.Gln551=)
c.1394A= (p.Gln465=)
10g.75028561A>CCA377291567DUSP29,KAT6Bc.3737A>C (p.Gln1246Pro)
c.3188A>C (p.Gln1063Pro)
c.2861A>C (p.Gln954Pro)
c.2672A>C (p.Gln891Pro)
n.577-1967T>G
c.*3622-1967T>G (n.*3622-1967T>G)
c.3575A>C (p.Gln1192Pro)
c.2699A>C (p.Gln900Pro)
c.2048A>C (p.Gln683Pro)
c.1652A>C (p.Gln551Pro)
c.1394A>C (p.Gln465Pro)
 dbSNP
10g.75028561A>GCA377291568DUSP29,KAT6Bc.3737A>G (p.Gln1246Arg)
c.3188A>G (p.Gln1063Arg)
c.2861A>G (p.Gln954Arg)
c.2672A>G (p.Gln891Arg)
n.577-1967T>C
c.*3622-1967T>C (n.*3622-1967T>C)
c.3575A>G (p.Gln1192Arg)
c.2699A>G (p.Gln900Arg)
c.2048A>G (p.Gln683Arg)
c.1652A>G (p.Gln551Arg)
c.1394A>G (p.Gln465Arg)
 ClinVar dbSNP gnomAD v3 gnomAD v4
10g.75028561A>TCA377291571DUSP29,KAT6Bc.3737A>T (p.Gln1246Leu)
c.3188A>T (p.Gln1063Leu)
c.2861A>T (p.Gln954Leu)
c.2672A>T (p.Gln891Leu)
n.577-1967T>A
c.*3622-1967T>A (n.*3622-1967T>A)
c.3575A>T (p.Gln1192Leu)
c.2699A>T (p.Gln900Leu)
c.2048A>T (p.Gln683Leu)
c.1652A>T (p.Gln551Leu)
c.1394A>T (p.Gln465Leu)
10g.75028562A>CCA377291573DUSP29,KAT6Bc.3738A>C (p.Gln1246His)
c.3189A>C (p.Gln1063His)
c.2862A>C (p.Gln954His)
c.2673A>C (p.Gln891His)
n.577-1968T>G
c.*3622-1968T>G (n.*3622-1968T>G)
c.3576A>C (p.Gln1192His)
c.2700A>C (p.Gln900His)
c.2049A>C (p.Gln683His)
c.1653A>C (p.Gln551His)
c.1395A>C (p.Gln465His)
10g.75028562A>GCA470299498DUSP29,KAT6Bc.3738A>G (p.Gln1246=)
c.3189A>G (p.Gln1063=)
c.2862A>G (p.Gln954=)
c.2673A>G (p.Gln891=)
n.577-1968T>C
c.*3622-1968T>C (n.*3622-1968T>C)
c.3576A>G (p.Gln1192=)
c.2700A>G (p.Gln900=)
c.2049A>G (p.Gln683=)
c.1653A>G (p.Gln551=)
c.1395A>G (p.Gln465=)
 gnomAD v4
10g.75028562A>TCA377291575DUSP29,KAT6Bc.3738A>T (p.Gln1246His)
c.3189A>T (p.Gln1063His)
c.2862A>T (p.Gln954His)
c.2673A>T (p.Gln891His)
n.577-1968T>A
c.*3622-1968T>A (n.*3622-1968T>A)
c.3576A>T (p.Gln1192His)
c.2700A>T (p.Gln900His)
c.2049A>T (p.Gln683His)
c.1653A>T (p.Gln551His)
c.1395A>T (p.Gln465His)
10g.75028563G>ACA377291581DUSP29,KAT6Bc.3739G>A (p.Val1247Met)
c.3190G>A (p.Val1064Met)
c.2863G>A (p.Val955Met)
c.2674G>A (p.Val892Met)
n.577-1969C>T
c.*3622-1969C>T (n.*3622-1969C>T)
c.3577G>A (p.Val1193Met)
c.2701G>A (p.Val901Met)
c.2050G>A (p.Val684Met)
c.1654G>A (p.Val552Met)
c.1396G>A (p.Val466Met)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.75028563G>CCA377291579DUSP29,KAT6Bc.3739G>C (p.Val1247Leu)
c.3190G>C (p.Val1064Leu)
c.2863G>C (p.Val955Leu)
c.2674G>C (p.Val892Leu)
n.577-1969C>G
c.*3622-1969C>G (n.*3622-1969C>G)
c.3577G>C (p.Val1193Leu)
c.2701G>C (p.Val901Leu)
c.2050G>C (p.Val684Leu)
c.1654G>C (p.Val552Leu)
c.1396G>C (p.Val466Leu)
10g.75028563G=CA1920306379DUSP29,KAT6Bc.3739G= (p.Val1247=)
c.3190G= (p.Val1064=)
c.2863G= (p.Val955=)
c.2674G= (p.Val892=)
n.577-1969C=
c.*3622-1969C= (n.*3622-1969C=)
c.3577G= (p.Val1193=)
c.2701G= (p.Val901=)
c.2050G= (p.Val684=)
c.1654G= (p.Val552=)
c.1396G= (p.Val466=)
10g.75028563G>TCA377291577DUSP29,KAT6Bc.3739G>T (p.Val1247Leu)
c.3190G>T (p.Val1064Leu)
c.2863G>T (p.Val955Leu)
c.2674G>T (p.Val892Leu)
n.577-1969C>A
c.*3622-1969C>A (n.*3622-1969C>A)
c.3577G>T (p.Val1193Leu)
c.2701G>T (p.Val901Leu)
c.2050G>T (p.Val684Leu)
c.1654G>T (p.Val552Leu)
c.1396G>T (p.Val466Leu)
10g.75028564T>ACA377291583DUSP29,KAT6Bc.3740T>A (p.Val1247Glu)
c.3191T>A (p.Val1064Glu)
c.2864T>A (p.Val955Glu)
c.2675T>A (p.Val892Glu)
n.577-1970A>T
c.*3622-1970A>T (n.*3622-1970A>T)
c.3578T>A (p.Val1193Glu)
c.2702T>A (p.Val901Glu)
c.2051T>A (p.Val684Glu)
c.1655T>A (p.Val552Glu)
c.1397T>A (p.Val466Glu)
10g.75028564T>CCA5564896DUSP29,KAT6Bc.3740T>C (p.Val1247Ala)
c.3191T>C (p.Val1064Ala)
c.2864T>C (p.Val955Ala)
c.2675T>C (p.Val892Ala)
n.577-1970A>G
c.*3622-1970A>G (n.*3622-1970A>G)
c.3578T>C (p.Val1193Ala)
c.2702T>C (p.Val901Ala)
c.2051T>C (p.Val684Ala)
c.1655T>C (p.Val552Ala)
c.1397T>C (p.Val466Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
10g.75028564T>GCA377291586DUSP29,KAT6Bc.3740T>G (p.Val1247Gly)
c.3191T>G (p.Val1064Gly)
c.2864T>G (p.Val955Gly)
c.2675T>G (p.Val892Gly)
n.577-1970A>C
c.*3622-1970A>C (n.*3622-1970A>C)
c.3578T>G (p.Val1193Gly)
c.2702T>G (p.Val901Gly)
c.2051T>G (p.Val684Gly)
c.1655T>G (p.Val552Gly)
c.1397T>G (p.Val466Gly)
10g.75028564T=CA1920306380DUSP29,KAT6Bc.3740T= (p.Val1247=)
c.3191T= (p.Val1064=)
c.2864T= (p.Val955=)
c.2675T= (p.Val892=)
n.577-1970A=
c.*3622-1970A= (n.*3622-1970A=)
c.3578T= (p.Val1193=)
c.2702T= (p.Val901=)
c.2051T= (p.Val684=)
c.1655T= (p.Val552=)
c.1397T= (p.Val466=)
10g.75028565G>ACA209709010DUSP29,KAT6Bc.3741G>A (p.Val1247=)
c.3192G>A (p.Val1064=)
c.2865G>A (p.Val955=)
c.2676G>A (p.Val892=)
n.577-1971C>T
c.*3622-1971C>T (n.*3622-1971C>T)
c.3579G>A (p.Val1193=)
c.2703G>A (p.Val901=)
c.2052G>A (p.Val684=)
c.1656G>A (p.Val552=)
c.1398G>A (p.Val466=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
10g.75028565G>CCA470299499DUSP29,KAT6Bc.3741G>C (p.Val1247=)
c.3192G>C (p.Val1064=)
c.2865G>C (p.Val955=)
c.2676G>C (p.Val892=)
n.577-1971C>G
c.*3622-1971C>G (n.*3622-1971C>G)
c.3579G>C (p.Val1193=)
c.2703G>C (p.Val901=)
c.2052G>C (p.Val684=)
c.1656G>C (p.Val552=)
c.1398G>C (p.Val466=)
10g.75028565G=CA1920306381DUSP29,KAT6Bc.3741G= (p.Val1247=)
c.3192G= (p.Val1064=)
c.2865G= (p.Val955=)
c.2676G= (p.Val892=)
n.577-1971C=
c.*3622-1971C= (n.*3622-1971C=)
c.3579G= (p.Val1193=)
c.2703G= (p.Val901=)
c.2052G= (p.Val684=)
c.1656G= (p.Val552=)
c.1398G= (p.Val466=)
10g.75028565G>TCA470299500DUSP29,KAT6Bc.3741G>T (p.Val1247=)
c.3192G>T (p.Val1064=)
c.2865G>T (p.Val955=)
c.2676G>T (p.Val892=)
n.577-1971C>A
c.*3622-1971C>A (n.*3622-1971C>A)
c.3579G>T (p.Val1193=)
c.2703G>T (p.Val901=)
c.2052G>T (p.Val684=)
c.1656G>T (p.Val552=)
c.1398G>T (p.Val466=)
10g.75028566T>ACA377291587DUSP29,KAT6Bc.3742T>A (p.Trp1248Arg)
c.3193T>A (p.Trp1065Arg)
c.2866T>A (p.Trp956Arg)
c.2677T>A (p.Trp893Arg)
n.577-1972A>T
c.*3622-1972A>T (n.*3622-1972A>T)
c.3580T>A (p.Trp1194Arg)
c.2704T>A (p.Trp902Arg)
c.2053T>A (p.Trp685Arg)
c.1657T>A (p.Trp553Arg)
c.1399T>A (p.Trp467Arg)
10g.75028566T>CCA377291589DUSP29,KAT6Bc.3742T>C (p.Trp1248Arg)
c.3193T>C (p.Trp1065Arg)
c.2866T>C (p.Trp956Arg)
c.2677T>C (p.Trp893Arg)
n.577-1972A>G
c.*3622-1972A>G (n.*3622-1972A>G)
c.3580T>C (p.Trp1194Arg)
c.2704T>C (p.Trp902Arg)
c.2053T>C (p.Trp685Arg)
c.1657T>C (p.Trp553Arg)
c.1399T>C (p.Trp467Arg)
10g.75028566T>GCA377291591DUSP29,KAT6Bc.3742T>G (p.Trp1248Gly)
c.3193T>G (p.Trp1065Gly)
c.2866T>G (p.Trp956Gly)
c.2677T>G (p.Trp893Gly)
n.577-1972A>C
c.*3622-1972A>C (n.*3622-1972A>C)
c.3580T>G (p.Trp1194Gly)
c.2704T>G (p.Trp902Gly)
c.2053T>G (p.Trp685Gly)
c.1657T>G (p.Trp553Gly)
c.1399T>G (p.Trp467Gly)
10g.75028567G>ACA377291593DUSP29,KAT6Bc.3743G>A (p.Trp1248Ter)
c.3194G>A (p.Trp1065Ter)
c.2867G>A (p.Trp956Ter)
c.2678G>A (p.Trp893Ter)
n.577-1973C>T
c.*3622-1973C>T (n.*3622-1973C>T)
c.3581G>A (p.Trp1194Ter)
c.2705G>A (p.Trp902Ter)
c.2054G>A (p.Trp685Ter)
c.1658G>A (p.Trp553Ter)
c.1400G>A (p.Trp467Ter)
10g.75028567G>CCA377291595DUSP29,KAT6Bc.3743G>C (p.Trp1248Ser)
c.3194G>C (p.Trp1065Ser)
c.2867G>C (p.Trp956Ser)
c.2678G>C (p.Trp893Ser)
n.577-1973C>G
c.*3622-1973C>G (n.*3622-1973C>G)
c.3581G>C (p.Trp1194Ser)
c.2705G>C (p.Trp902Ser)
c.2054G>C (p.Trp685Ser)
c.1658G>C (p.Trp553Ser)
c.1400G>C (p.Trp467Ser)
10g.75028567G>TCA377291597DUSP29,KAT6Bc.3743G>T (p.Trp1248Leu)
c.3194G>T (p.Trp1065Leu)
c.2867G>T (p.Trp956Leu)
c.2678G>T (p.Trp893Leu)
n.577-1973C>A
c.*3622-1973C>A (n.*3622-1973C>A)
c.3581G>T (p.Trp1194Leu)
c.2705G>T (p.Trp902Leu)
c.2054G>T (p.Trp685Leu)
c.1658G>T (p.Trp553Leu)
c.1400G>T (p.Trp467Leu)

Number of alleles fetched