Chr Mutation (hg38) CAid Gene Transcript Linkouts
10g.75028440_75028444delinsGCTTTCA1920306321DUSP29,KAT6Bc.3665-49_3665-45delinsGCTTT (n.3665-49_3665-45delinsGCTTT)
c.3116-49_3116-45delinsGCTTT (n.3116-49_3116-45delinsGCTTT)
c.2789-49_2789-45delinsGCTTT (n.2789-49_2789-45delinsGCTTT)
c.2600-49_2600-45delinsGCTTT (n.2600-49_2600-45delinsGCTTT)
n.577-1850_577-1846delinsAAAGC
c.*3622-1850_*3622-1846delinsAAAGC (n.*3622-1850_*3622-1846delinsAAAGC)
c.3503-49_3503-45delinsGCTTT (n.3503-49_3503-45delinsGCTTT)
c.2627-49_2627-45delinsGCTTT (n.2627-49_2627-45delinsGCTTT)
c.1976-49_1976-45delinsGCTTT (n.1976-49_1976-45delinsGCTTT)
c.1580-49_1580-45delinsGCTTT (n.1580-49_1580-45delinsGCTTT)
c.1322-49_1322-45delinsGCTTT (n.1322-49_1322-45delinsGCTTT)
10g.75028443_75028446delCA5564871DUSP29,KAT6Bc.3665-46_3665-43del (n.3665-46_3665-43del)
c.3116-46_3116-43del (n.3116-46_3116-43del)
c.2789-46_2789-43del (n.2789-46_2789-43del)
c.2600-46_2600-43del (n.2600-46_2600-43del)
n.577-1850_577-1847del
c.*3622-1850_*3622-1847del (n.*3622-1850_*3622-1847del)
c.3503-46_3503-43del (n.3503-46_3503-43del)
c.2627-46_2627-43del (n.2627-46_2627-43del)
c.1976-46_1976-43del (n.1976-46_1976-43del)
c.1580-46_1580-43del (n.1580-46_1580-43del)
c.1322-46_1322-43del (n.1322-46_1322-43del)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.75028443T>CCA1920306323DUSP29,KAT6Bc.3665-46T>C (n.3665-46T>C)
c.3116-46T>C (n.3116-46T>C)
c.2789-46T>C (n.2789-46T>C)
c.2600-46T>C (n.2600-46T>C)
n.577-1849A>G
c.*3622-1849A>G (n.*3622-1849A>G)
c.3503-46T>C (n.3503-46T>C)
c.2627-46T>C (n.2627-46T>C)
c.1976-46T>C (n.1976-46T>C)
c.1580-46T>C (n.1580-46T>C)
c.1322-46T>C (n.1322-46T>C)
 dbSNP gnomAD v3 gnomAD v4
10g.75028443T>GCA2609745685DUSP29,KAT6Bc.3665-46T>G (n.3665-46T>G)
c.3116-46T>G (n.3116-46T>G)
c.2789-46T>G (n.2789-46T>G)
c.2600-46T>G (n.2600-46T>G)
n.577-1849A>C
c.*3622-1849A>C (n.*3622-1849A>C)
c.3503-46T>G (n.3503-46T>G)
c.2627-46T>G (n.2627-46T>G)
c.1976-46T>G (n.1976-46T>G)
c.1580-46T>G (n.1580-46T>G)
c.1322-46T>G (n.1322-46T>G)
 gnomAD v4
10g.75028443T=CA1920306324DUSP29,KAT6Bc.3665-46T= (n.3665-46T=)
c.3116-46T= (n.3116-46T=)
c.2789-46T= (n.2789-46T=)
c.2600-46T= (n.2600-46T=)
n.577-1849A=
c.*3622-1849A= (n.*3622-1849A=)
c.3503-46T= (n.3503-46T=)
c.2627-46T= (n.2627-46T=)
c.1976-46T= (n.1976-46T=)
c.1580-46T= (n.1580-46T=)
c.1322-46T= (n.1322-46T=)
10g.75028444T>CCA594709523DUSP29,KAT6Bc.3665-45T>C (n.3665-45T>C)
c.3116-45T>C (n.3116-45T>C)
c.2789-45T>C (n.2789-45T>C)
c.2600-45T>C (n.2600-45T>C)
n.577-1850A>G
c.*3622-1850A>G (n.*3622-1850A>G)
c.3503-45T>C (n.3503-45T>C)
c.2627-45T>C (n.2627-45T>C)
c.1976-45T>C (n.1976-45T>C)
c.1580-45T>C (n.1580-45T>C)
c.1322-45T>C (n.1322-45T>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.75028444T=CA1920306325DUSP29,KAT6Bc.3665-45T= (n.3665-45T=)
c.3116-45T= (n.3116-45T=)
c.2789-45T= (n.2789-45T=)
c.2600-45T= (n.2600-45T=)
n.577-1850A=
c.*3622-1850A= (n.*3622-1850A=)
c.3503-45T= (n.3503-45T=)
c.2627-45T= (n.2627-45T=)
c.1976-45T= (n.1976-45T=)
c.1580-45T= (n.1580-45T=)
c.1322-45T= (n.1322-45T=)
10g.75028449G>TCA2609745686DUSP29,KAT6Bc.3665-40G>T (n.3665-40G>T)
c.3116-40G>T (n.3116-40G>T)
c.2789-40G>T (n.2789-40G>T)
c.2600-40G>T (n.2600-40G>T)
n.577-1855C>A
c.*3622-1855C>A (n.*3622-1855C>A)
c.3503-40G>T (n.3503-40G>T)
c.2627-40G>T (n.2627-40G>T)
c.1976-40G>T (n.1976-40G>T)
c.1580-40G>T (n.1580-40G>T)
c.1322-40G>T (n.1322-40G>T)
 gnomAD v4
10g.75028450delCA2722309152DUSP29,KAT6Bc.3665-39del (n.3665-39del)
c.3116-39del (n.3116-39del)
c.2789-39del (n.2789-39del)
c.2600-39del (n.2600-39del)
n.577-1856del
c.*3622-1856del (n.*3622-1856del)
c.3503-39del (n.3503-39del)
c.2627-39del (n.2627-39del)
c.1976-39del (n.1976-39del)
c.1580-39del (n.1580-39del)
c.1322-39del (n.1322-39del)
 dbSNP
10g.75028450A=CA1920306326DUSP29,KAT6Bc.3665-39A= (n.3665-39A=)
c.3116-39A= (n.3116-39A=)
c.2789-39A= (n.2789-39A=)
c.2600-39A= (n.2600-39A=)
n.577-1856T=
c.*3622-1856T= (n.*3622-1856T=)
c.3503-39A= (n.3503-39A=)
c.2627-39A= (n.2627-39A=)
c.1976-39A= (n.1976-39A=)
c.1580-39A= (n.1580-39A=)
c.1322-39A= (n.1322-39A=)
10g.75028450A>CCA209708850DUSP29,KAT6Bc.3665-39A>C (n.3665-39A>C)
c.3116-39A>C (n.3116-39A>C)
c.2789-39A>C (n.2789-39A>C)
c.2600-39A>C (n.2600-39A>C)
n.577-1856T>G
c.*3622-1856T>G (n.*3622-1856T>G)
c.3503-39A>C (n.3503-39A>C)
c.2627-39A>C (n.2627-39A>C)
c.1976-39A>C (n.1976-39A>C)
c.1580-39A>C (n.1580-39A>C)
c.1322-39A>C (n.1322-39A>C)
 dbSNP
10g.75028450A>TCA1920306327DUSP29,KAT6Bc.3665-39A>T (n.3665-39A>T)
c.3116-39A>T (n.3116-39A>T)
c.2789-39A>T (n.2789-39A>T)
c.2600-39A>T (n.2600-39A>T)
n.577-1856T>A
c.*3622-1856T>A (n.*3622-1856T>A)
c.3503-39A>T (n.3503-39A>T)
c.2627-39A>T (n.2627-39A>T)
c.1976-39A>T (n.1976-39A>T)
c.1580-39A>T (n.1580-39A>T)
c.1322-39A>T (n.1322-39A>T)
 dbSNP
10g.75028451_75028453delinsCTGCA1920306328DUSP29,KAT6Bc.3665-38_3665-36delinsCTG (n.3665-38_3665-36delinsCTG)
c.3116-38_3116-36delinsCTG (n.3116-38_3116-36delinsCTG)
c.2789-38_2789-36delinsCTG (n.2789-38_2789-36delinsCTG)
c.2600-38_2600-36delinsCTG (n.2600-38_2600-36delinsCTG)
n.577-1859_577-1857delinsCAG
c.*3622-1859_*3622-1857delinsCAG (n.*3622-1859_*3622-1857delinsCAG)
c.3503-38_3503-36delinsCTG (n.3503-38_3503-36delinsCTG)
c.2627-38_2627-36delinsCTG (n.2627-38_2627-36delinsCTG)
c.1976-38_1976-36delinsCTG (n.1976-38_1976-36delinsCTG)
c.1580-38_1580-36delinsCTG (n.1580-38_1580-36delinsCTG)
c.1322-38_1322-36delinsCTG (n.1322-38_1322-36delinsCTG)
10g.75028452T>CCA5564872DUSP29,KAT6Bc.3665-37T>C (n.3665-37T>C)
c.3116-37T>C (n.3116-37T>C)
c.2789-37T>C (n.2789-37T>C)
c.2600-37T>C (n.2600-37T>C)
n.577-1858A>G
c.*3622-1858A>G (n.*3622-1858A>G)
c.3503-37T>C (n.3503-37T>C)
c.2627-37T>C (n.2627-37T>C)
c.1976-37T>C (n.1976-37T>C)
c.1580-37T>C (n.1580-37T>C)
c.1322-37T>C (n.1322-37T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.75028452T=CA1920306329DUSP29,KAT6Bc.3665-37T= (n.3665-37T=)
c.3116-37T= (n.3116-37T=)
c.2789-37T= (n.2789-37T=)
c.2600-37T= (n.2600-37T=)
n.577-1858A=
c.*3622-1858A= (n.*3622-1858A=)
c.3503-37T= (n.3503-37T=)
c.2627-37T= (n.2627-37T=)
c.1976-37T= (n.1976-37T=)
c.1580-37T= (n.1580-37T=)
c.1322-37T= (n.1322-37T=)
10g.75028453_75028454delCA668389726DUSP29,KAT6Bc.3665-36_3665-35del (n.3665-36_3665-35del)
c.3116-36_3116-35del (n.3116-36_3116-35del)
c.2789-36_2789-35del (n.2789-36_2789-35del)
c.2600-36_2600-35del (n.2600-36_2600-35del)
n.577-1859_577-1858del
c.*3622-1859_*3622-1858del (n.*3622-1859_*3622-1858del)
c.3503-36_3503-35del (n.3503-36_3503-35del)
c.2627-36_2627-35del (n.2627-36_2627-35del)
c.1976-36_1976-35del (n.1976-36_1976-35del)
c.1580-36_1580-35del (n.1580-36_1580-35del)
c.1322-36_1322-35del (n.1322-36_1322-35del)
 dbSNP gnomAD v3 gnomAD v4
10g.75028453G>ACA594709524DUSP29,KAT6Bc.3665-36G>A (n.3665-36G>A)
c.3116-36G>A (n.3116-36G>A)
c.2789-36G>A (n.2789-36G>A)
c.2600-36G>A (n.2600-36G>A)
n.577-1859C>T
c.*3622-1859C>T (n.*3622-1859C>T)
c.3503-36G>A (n.3503-36G>A)
c.2627-36G>A (n.2627-36G>A)
c.1976-36G>A (n.1976-36G>A)
c.1580-36G>A (n.1580-36G>A)
c.1322-36G>A (n.1322-36G>A)
 dbSNP gnomAD v2 gnomAD v4
10g.75028453G=CA1920306331DUSP29,KAT6Bc.3665-36G= (n.3665-36G=)
c.3116-36G= (n.3116-36G=)
c.2789-36G= (n.2789-36G=)
c.2600-36G= (n.2600-36G=)
n.577-1859C=
c.*3622-1859C= (n.*3622-1859C=)
c.3503-36G= (n.3503-36G=)
c.2627-36G= (n.2627-36G=)
c.1976-36G= (n.1976-36G=)
c.1580-36G= (n.1580-36G=)
c.1322-36G= (n.1322-36G=)
10g.75028453G>TCA2549649186DUSP29,KAT6Bc.3665-36G>T (n.3665-36G>T)
c.3116-36G>T (n.3116-36G>T)
c.2789-36G>T (n.2789-36G>T)
c.2600-36G>T (n.2600-36G>T)
n.577-1859C>A
c.*3622-1859C>A (n.*3622-1859C>A)
c.3503-36G>T (n.3503-36G>T)
c.2627-36G>T (n.2627-36G>T)
c.1976-36G>T (n.1976-36G>T)
c.1580-36G>T (n.1580-36G>T)
c.1322-36G>T (n.1322-36G>T)
10g.75028453_75028454delinsGTCA1920306330DUSP29,KAT6Bc.3665-36_3665-35delinsGT (n.3665-36_3665-35delinsGT)
c.3116-36_3116-35delinsGT (n.3116-36_3116-35delinsGT)
c.2789-36_2789-35delinsGT (n.2789-36_2789-35delinsGT)
c.2600-36_2600-35delinsGT (n.2600-36_2600-35delinsGT)
n.577-1860_577-1859delinsAC
c.*3622-1860_*3622-1859delinsAC (n.*3622-1860_*3622-1859delinsAC)
c.3503-36_3503-35delinsGT (n.3503-36_3503-35delinsGT)
c.2627-36_2627-35delinsGT (n.2627-36_2627-35delinsGT)
c.1976-36_1976-35delinsGT (n.1976-36_1976-35delinsGT)
c.1580-36_1580-35delinsGT (n.1580-36_1580-35delinsGT)
c.1322-36_1322-35delinsGT (n.1322-36_1322-35delinsGT)
10g.75028454T>GCA5564875DUSP29,KAT6Bc.3665-35T>G (n.3665-35T>G)
c.3116-35T>G (n.3116-35T>G)
c.2789-35T>G (n.2789-35T>G)
c.2600-35T>G (n.2600-35T>G)
n.577-1860A>C
c.*3622-1860A>C (n.*3622-1860A>C)
c.3503-35T>G (n.3503-35T>G)
c.2627-35T>G (n.2627-35T>G)
c.1976-35T>G (n.1976-35T>G)
c.1580-35T>G (n.1580-35T>G)
c.1322-35T>G (n.1322-35T>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.75028454T=CA1920306332DUSP29,KAT6Bc.3665-35T= (n.3665-35T=)
c.3116-35T= (n.3116-35T=)
c.2789-35T= (n.2789-35T=)
c.2600-35T= (n.2600-35T=)
n.577-1860A=
c.*3622-1860A= (n.*3622-1860A=)
c.3503-35T= (n.3503-35T=)
c.2627-35T= (n.2627-35T=)
c.1976-35T= (n.1976-35T=)
c.1580-35T= (n.1580-35T=)
c.1322-35T= (n.1322-35T=)
10g.75028461dupCA5564873DUSP29,KAT6Bc.3665-28dup (n.3665-28dup)
c.3116-28dup (n.3116-28dup)
c.2789-28dup (n.2789-28dup)
c.2600-28dup (n.2600-28dup)
n.577-1860dup
c.*3622-1860dup (n.*3622-1860dup)
c.3503-28dup (n.3503-28dup)
c.2627-28dup (n.2627-28dup)
c.1976-28dup (n.1976-28dup)
c.1580-28dup (n.1580-28dup)
c.1322-28dup (n.1322-28dup)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.75028461delCA5564874DUSP29,KAT6Bc.3665-28del (n.3665-28del)
c.3116-28del (n.3116-28del)
c.2789-28del (n.2789-28del)
c.2600-28del (n.2600-28del)
n.577-1860del
c.*3622-1860del (n.*3622-1860del)
c.3503-28del (n.3503-28del)
c.2627-28del (n.2627-28del)
c.1976-28del (n.1976-28del)
c.1580-28del (n.1580-28del)
c.1322-28del (n.1322-28del)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
10g.75028456T>CCA2574596248DUSP29,KAT6Bc.3665-33T>C (n.3665-33T>C)
c.3116-33T>C (n.3116-33T>C)
c.2789-33T>C (n.2789-33T>C)
c.2600-33T>C (n.2600-33T>C)
n.577-1862A>G
c.*3622-1862A>G (n.*3622-1862A>G)
c.3503-33T>C (n.3503-33T>C)
c.2627-33T>C (n.2627-33T>C)
c.1976-33T>C (n.1976-33T>C)
c.1580-33T>C (n.1580-33T>C)
c.1322-33T>C (n.1322-33T>C)
10g.75028457T>CCA209708869DUSP29,KAT6Bc.3665-32T>C (n.3665-32T>C)
c.3116-32T>C (n.3116-32T>C)
c.2789-32T>C (n.2789-32T>C)
c.2600-32T>C (n.2600-32T>C)
n.577-1863A>G
c.*3622-1863A>G (n.*3622-1863A>G)
c.3503-32T>C (n.3503-32T>C)
c.2627-32T>C (n.2627-32T>C)
c.1976-32T>C (n.1976-32T>C)
c.1580-32T>C (n.1580-32T>C)
c.1322-32T>C (n.1322-32T>C)
 dbSNP
10g.75028457T>GCA594709525DUSP29,KAT6Bc.3665-32T>G (n.3665-32T>G)
c.3116-32T>G (n.3116-32T>G)
c.2789-32T>G (n.2789-32T>G)
c.2600-32T>G (n.2600-32T>G)
n.577-1863A>C
c.*3622-1863A>C (n.*3622-1863A>C)
c.3503-32T>G (n.3503-32T>G)
c.2627-32T>G (n.2627-32T>G)
c.1976-32T>G (n.1976-32T>G)
c.1580-32T>G (n.1580-32T>G)
c.1322-32T>G (n.1322-32T>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.75028457T=CA1920306333DUSP29,KAT6Bc.3665-32T= (n.3665-32T=)
c.3116-32T= (n.3116-32T=)
c.2789-32T= (n.2789-32T=)
c.2600-32T= (n.2600-32T=)
n.577-1863A=
c.*3622-1863A= (n.*3622-1863A=)
c.3503-32T= (n.3503-32T=)
c.2627-32T= (n.2627-32T=)
c.1976-32T= (n.1976-32T=)
c.1580-32T= (n.1580-32T=)
c.1322-32T= (n.1322-32T=)
10g.75028458T>CCA2788571367DUSP29,KAT6Bc.3665-31T>C (n.3665-31T>C)
c.3116-31T>C (n.3116-31T>C)
c.2789-31T>C (n.2789-31T>C)
c.2600-31T>C (n.2600-31T>C)
n.577-1864A>G
c.*3622-1864A>G (n.*3622-1864A>G)
c.3503-31T>C (n.3503-31T>C)
c.2627-31T>C (n.2627-31T>C)
c.1976-31T>C (n.1976-31T>C)
c.1580-31T>C (n.1580-31T>C)
c.1322-31T>C (n.1322-31T>C)
10g.75028459T>CCA1920306335DUSP29,KAT6Bc.3665-30T>C (n.3665-30T>C)
c.3116-30T>C (n.3116-30T>C)
c.2789-30T>C (n.2789-30T>C)
c.2600-30T>C (n.2600-30T>C)
n.577-1865A>G
c.*3622-1865A>G (n.*3622-1865A>G)
c.3503-30T>C (n.3503-30T>C)
c.2627-30T>C (n.2627-30T>C)
c.1976-30T>C (n.1976-30T>C)
c.1580-30T>C (n.1580-30T>C)
c.1322-30T>C (n.1322-30T>C)
 dbSNP
10g.75028459T=CA1920306334DUSP29,KAT6Bc.3665-30T= (n.3665-30T=)
c.3116-30T= (n.3116-30T=)
c.2789-30T= (n.2789-30T=)
c.2600-30T= (n.2600-30T=)
n.577-1865A=
c.*3622-1865A= (n.*3622-1865A=)
c.3503-30T= (n.3503-30T=)
c.2627-30T= (n.2627-30T=)
c.1976-30T= (n.1976-30T=)
c.1580-30T= (n.1580-30T=)
c.1322-30T= (n.1322-30T=)
10g.75028461T>CCA1920306337DUSP29,KAT6Bc.3665-28T>C (n.3665-28T>C)
c.3116-28T>C (n.3116-28T>C)
c.2789-28T>C (n.2789-28T>C)
c.2600-28T>C (n.2600-28T>C)
n.577-1867A>G
c.*3622-1867A>G (n.*3622-1867A>G)
c.3503-28T>C (n.3503-28T>C)
c.2627-28T>C (n.2627-28T>C)
c.1976-28T>C (n.1976-28T>C)
c.1580-28T>C (n.1580-28T>C)
c.1322-28T>C (n.1322-28T>C)
 dbSNP gnomAD v4
10g.75028461T>GCA5564876DUSP29,KAT6Bc.3665-28T>G (n.3665-28T>G)
c.3116-28T>G (n.3116-28T>G)
c.2789-28T>G (n.2789-28T>G)
c.2600-28T>G (n.2600-28T>G)
n.577-1867A>C
c.*3622-1867A>C (n.*3622-1867A>C)
c.3503-28T>G (n.3503-28T>G)
c.2627-28T>G (n.2627-28T>G)
c.1976-28T>G (n.1976-28T>G)
c.1580-28T>G (n.1580-28T>G)
c.1322-28T>G (n.1322-28T>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.75028461T=CA1920306336DUSP29,KAT6Bc.3665-28T= (n.3665-28T=)
c.3116-28T= (n.3116-28T=)
c.2789-28T= (n.2789-28T=)
c.2600-28T= (n.2600-28T=)
n.577-1867A=
c.*3622-1867A= (n.*3622-1867A=)
c.3503-28T= (n.3503-28T=)
c.2627-28T= (n.2627-28T=)
c.1976-28T= (n.1976-28T=)
c.1580-28T= (n.1580-28T=)
c.1322-28T= (n.1322-28T=)
10g.75028461_75028463delinsTCCCA1920306338DUSP29,KAT6Bc.3665-28_3665-26delinsTCC (n.3665-28_3665-26delinsTCC)
c.3116-28_3116-26delinsTCC (n.3116-28_3116-26delinsTCC)
c.2789-28_2789-26delinsTCC (n.2789-28_2789-26delinsTCC)
c.2600-28_2600-26delinsTCC (n.2600-28_2600-26delinsTCC)
n.577-1869_577-1867delinsGGA
c.*3622-1869_*3622-1867delinsGGA (n.*3622-1869_*3622-1867delinsGGA)
c.3503-28_3503-26delinsTCC (n.3503-28_3503-26delinsTCC)
c.2627-28_2627-26delinsTCC (n.2627-28_2627-26delinsTCC)
c.1976-28_1976-26delinsTCC (n.1976-28_1976-26delinsTCC)
c.1580-28_1580-26delinsTCC (n.1580-28_1580-26delinsTCC)
c.1322-28_1322-26delinsTCC (n.1322-28_1322-26delinsTCC)
10g.75028462C=CA1920306339DUSP29,KAT6Bc.3665-27C= (n.3665-27C=)
c.3116-27C= (n.3116-27C=)
c.2789-27C= (n.2789-27C=)
c.2600-27C= (n.2600-27C=)
n.577-1868G=
c.*3622-1868G= (n.*3622-1868G=)
c.3503-27C= (n.3503-27C=)
c.2627-27C= (n.2627-27C=)
c.1976-27C= (n.1976-27C=)
c.1580-27C= (n.1580-27C=)
c.1322-27C= (n.1322-27C=)
10g.75028462C>TCA209708874DUSP29,KAT6Bc.3665-27C>T (n.3665-27C>T)
c.3116-27C>T (n.3116-27C>T)
c.2789-27C>T (n.2789-27C>T)
c.2600-27C>T (n.2600-27C>T)
n.577-1868G>A
c.*3622-1868G>A (n.*3622-1868G>A)
c.3503-27C>T (n.3503-27C>T)
c.2627-27C>T (n.2627-27C>T)
c.1976-27C>T (n.1976-27C>T)
c.1580-27C>T (n.1580-27C>T)
c.1322-27C>T (n.1322-27C>T)
 dbSNP gnomAD v4
10g.75028462_75028463delCA594709526DUSP29,KAT6Bc.3665-27_3665-26del (n.3665-27_3665-26del)
c.3116-27_3116-26del (n.3116-27_3116-26del)
c.2789-27_2789-26del (n.2789-27_2789-26del)
c.2600-27_2600-26del (n.2600-27_2600-26del)
n.577-1869_577-1868del
c.*3622-1869_*3622-1868del (n.*3622-1869_*3622-1868del)
c.3503-27_3503-26del (n.3503-27_3503-26del)
c.2627-27_2627-26del (n.2627-27_2627-26del)
c.1976-27_1976-26del (n.1976-27_1976-26del)
c.1580-27_1580-26del (n.1580-27_1580-26del)
c.1322-27_1322-26del (n.1322-27_1322-26del)
 dbSNP gnomAD v2 gnomAD v4
10g.75028463dupCA2609745687DUSP29,KAT6Bc.3665-26dup (n.3665-26dup)
c.3116-26dup (n.3116-26dup)
c.2789-26dup (n.2789-26dup)
c.2600-26dup (n.2600-26dup)
n.577-1868dup
c.*3622-1868dup (n.*3622-1868dup)
c.3503-26dup (n.3503-26dup)
c.2627-26dup (n.2627-26dup)
c.1976-26dup (n.1976-26dup)
c.1580-26dup (n.1580-26dup)
c.1322-26dup (n.1322-26dup)
 gnomAD v4
10g.75028463delCA2574596249DUSP29,KAT6Bc.3665-26del (n.3665-26del)
c.3116-26del (n.3116-26del)
c.2789-26del (n.2789-26del)
c.2600-26del (n.2600-26del)
n.577-1868del
c.*3622-1868del (n.*3622-1868del)
c.3503-26del (n.3503-26del)
c.2627-26del (n.2627-26del)
c.1976-26del (n.1976-26del)
c.1580-26del (n.1580-26del)
c.1322-26del (n.1322-26del)
 gnomAD v4
10g.75028463C>TCA2609745688DUSP29,KAT6Bc.3665-26C>T (n.3665-26C>T)
c.3116-26C>T (n.3116-26C>T)
c.2789-26C>T (n.2789-26C>T)
c.2600-26C>T (n.2600-26C>T)
n.577-1869G>A
c.*3622-1869G>A (n.*3622-1869G>A)
c.3503-26C>T (n.3503-26C>T)
c.2627-26C>T (n.2627-26C>T)
c.1976-26C>T (n.1976-26C>T)
c.1580-26C>T (n.1580-26C>T)
c.1322-26C>T (n.1322-26C>T)
 gnomAD v4
10g.75028465T>CCA209708879DUSP29,KAT6Bc.3665-24T>C (n.3665-24T>C)
c.3116-24T>C (n.3116-24T>C)
c.2789-24T>C (n.2789-24T>C)
c.2600-24T>C (n.2600-24T>C)
n.577-1871A>G
c.*3622-1871A>G (n.*3622-1871A>G)
c.3503-24T>C (n.3503-24T>C)
c.2627-24T>C (n.2627-24T>C)
c.1976-24T>C (n.1976-24T>C)
c.1580-24T>C (n.1580-24T>C)
c.1322-24T>C (n.1322-24T>C)
 dbSNP
10g.75028465T=CA1920306340DUSP29,KAT6Bc.3665-24T= (n.3665-24T=)
c.3116-24T= (n.3116-24T=)
c.2789-24T= (n.2789-24T=)
c.2600-24T= (n.2600-24T=)
n.577-1871A=
c.*3622-1871A= (n.*3622-1871A=)
c.3503-24T= (n.3503-24T=)
c.2627-24T= (n.2627-24T=)
c.1976-24T= (n.1976-24T=)
c.1580-24T= (n.1580-24T=)
c.1322-24T= (n.1322-24T=)
10g.75028465_75028466delinsTCCA1920306342DUSP29,KAT6Bc.3665-24_3665-23delinsTC (n.3665-24_3665-23delinsTC)
c.3116-24_3116-23delinsTC (n.3116-24_3116-23delinsTC)
c.2789-24_2789-23delinsTC (n.2789-24_2789-23delinsTC)
c.2600-24_2600-23delinsTC (n.2600-24_2600-23delinsTC)
n.577-1872_577-1871delinsGA
c.*3622-1872_*3622-1871delinsGA (n.*3622-1872_*3622-1871delinsGA)
c.3503-24_3503-23delinsTC (n.3503-24_3503-23delinsTC)
c.2627-24_2627-23delinsTC (n.2627-24_2627-23delinsTC)
c.1976-24_1976-23delinsTC (n.1976-24_1976-23delinsTC)
c.1580-24_1580-23delinsTC (n.1580-24_1580-23delinsTC)
c.1322-24_1322-23delinsTC (n.1322-24_1322-23delinsTC)
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.75028466C=CA1920306343DUSP29,KAT6Bc.3665-23C= (n.3665-23C=)
c.3116-23C= (n.3116-23C=)
c.2789-23C= (n.2789-23C=)
c.2600-23C= (n.2600-23C=)
n.577-1872G=
c.*3622-1872G= (n.*3622-1872G=)
c.3503-23C= (n.3503-23C=)
c.2627-23C= (n.2627-23C=)
c.1976-23C= (n.1976-23C=)
c.1580-23C= (n.1580-23C=)
c.1322-23C= (n.1322-23C=)
10g.75028466C>GCA668389742DUSP29,KAT6Bc.3665-23C>G (n.3665-23C>G)
c.3116-23C>G (n.3116-23C>G)
c.2789-23C>G (n.2789-23C>G)
c.2600-23C>G (n.2600-23C>G)
n.577-1872G>C
c.*3622-1872G>C (n.*3622-1872G>C)
c.3503-23C>G (n.3503-23C>G)
c.2627-23C>G (n.2627-23C>G)
c.1976-23C>G (n.1976-23C>G)
c.1580-23C>G (n.1580-23C>G)
c.1322-23C>G (n.1322-23C>G)
 dbSNP gnomAD v3 gnomAD v4
10g.75028466C>TCA668389743DUSP29,KAT6Bc.3665-23C>T (n.3665-23C>T)
c.3116-23C>T (n.3116-23C>T)
c.2789-23C>T (n.2789-23C>T)
c.2600-23C>T (n.2600-23C>T)
n.577-1872G>A
c.*3622-1872G>A (n.*3622-1872G>A)
c.3503-23C>T (n.3503-23C>T)
c.2627-23C>T (n.2627-23C>T)
c.1976-23C>T (n.1976-23C>T)
c.1580-23C>T (n.1580-23C>T)
c.1322-23C>T (n.1322-23C>T)
 dbSNP gnomAD v4
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.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)

Number of alleles fetched