Chr Mutation (hg38) CAid Gene Transcript Linkouts
10g.75029851delCA2695212221DUSP29,KAT6Bc.5027del (p.Thr1676LysfsTer?)
c.4478del (p.Thr1493LysfsTer?)
c.4151del (p.Thr1384LysfsTer?)
n.577-3257del
c.*3622-3257del (n.*3622-3257del)
c.4865del (p.Thr1622LysfsTer?)
c.3989del (p.Thr1330LysfsTer?)
c.3338del (p.Thr1113LysfsTer?)
c.2942del (p.Thr981LysfsTer?)
c.2684del (p.Thr895LysfsTer?)
c.3962del (p.Thr1321LysfsTer?)
10g.75029851C>ACA377299732DUSP29,KAT6Bc.5027C>A (p.Thr1676Lys)
c.4478C>A (p.Thr1493Lys)
c.4151C>A (p.Thr1384Lys)
n.577-3257G>T
c.*3622-3257G>T (n.*3622-3257G>T)
c.4865C>A (p.Thr1622Lys)
c.3989C>A (p.Thr1330Lys)
c.3338C>A (p.Thr1113Lys)
c.2942C>A (p.Thr981Lys)
c.2684C>A (p.Thr895Lys)
c.3962C>A (p.Thr1321Lys)
10g.75029851C=CA1920306853DUSP29,KAT6Bc.5027C= (p.Thr1676=)
c.4478C= (p.Thr1493=)
c.4151C= (p.Thr1384=)
n.577-3257G=
c.*3622-3257G= (n.*3622-3257G=)
c.4865C= (p.Thr1622=)
c.3989C= (p.Thr1330=)
c.3338C= (p.Thr1113=)
c.2942C= (p.Thr981=)
c.2684C= (p.Thr895=)
c.3962C= (p.Thr1321=)
10g.75029851C>GCA377299735DUSP29,KAT6Bc.5027C>G (p.Thr1676Arg)
c.4478C>G (p.Thr1493Arg)
c.4151C>G (p.Thr1384Arg)
n.577-3257G>C
c.*3622-3257G>C (n.*3622-3257G>C)
c.4865C>G (p.Thr1622Arg)
c.3989C>G (p.Thr1330Arg)
c.3338C>G (p.Thr1113Arg)
c.2942C>G (p.Thr981Arg)
c.2684C>G (p.Thr895Arg)
c.3962C>G (p.Thr1321Arg)
10g.75029851C>TCA5565132DUSP29,KAT6Bc.5027C>T (p.Thr1676Ile)
c.4478C>T (p.Thr1493Ile)
c.4151C>T (p.Thr1384Ile)
n.577-3257G>A
c.*3622-3257G>A (n.*3622-3257G>A)
c.4865C>T (p.Thr1622Ile)
c.3989C>T (p.Thr1330Ile)
c.3338C>T (p.Thr1113Ile)
c.2942C>T (p.Thr981Ile)
c.2684C>T (p.Thr895Ile)
c.3962C>T (p.Thr1321Ile)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.75029852A>CCA470299999DUSP29,KAT6Bc.5028A>C (p.Thr1676=)
c.4479A>C (p.Thr1493=)
c.4152A>C (p.Thr1384=)
n.577-3258T>G
c.*3622-3258T>G (n.*3622-3258T>G)
c.4866A>C (p.Thr1622=)
c.3990A>C (p.Thr1330=)
c.3339A>C (p.Thr1113=)
c.2943A>C (p.Thr981=)
c.2685A>C (p.Thr895=)
c.3963A>C (p.Thr1321=)
10g.75029852A>GCA470299998DUSP29,KAT6Bc.5028A>G (p.Thr1676=)
c.4479A>G (p.Thr1493=)
c.4152A>G (p.Thr1384=)
n.577-3258T>C
c.*3622-3258T>C (n.*3622-3258T>C)
c.4866A>G (p.Thr1622=)
c.3990A>G (p.Thr1330=)
c.3339A>G (p.Thr1113=)
c.2943A>G (p.Thr981=)
c.2685A>G (p.Thr895=)
c.3963A>G (p.Thr1321=)
10g.75029852A>TCA470299997DUSP29,KAT6Bc.5028A>T (p.Thr1676=)
c.4479A>T (p.Thr1493=)
c.4152A>T (p.Thr1384=)
n.577-3258T>A
c.*3622-3258T>A (n.*3622-3258T>A)
c.4866A>T (p.Thr1622=)
c.3990A>T (p.Thr1330=)
c.3339A>T (p.Thr1113=)
c.2943A>T (p.Thr981=)
c.2685A>T (p.Thr895=)
c.3963A>T (p.Thr1321=)
10g.75029853A>CCA377299738DUSP29,KAT6Bc.5029A>C (p.Thr1677Pro)
c.4480A>C (p.Thr1494Pro)
c.4153A>C (p.Thr1385Pro)
n.577-3259T>G
c.*3622-3259T>G (n.*3622-3259T>G)
c.4867A>C (p.Thr1623Pro)
c.3991A>C (p.Thr1331Pro)
c.3340A>C (p.Thr1114Pro)
c.2944A>C (p.Thr982Pro)
c.2686A>C (p.Thr896Pro)
c.3964A>C (p.Thr1322Pro)
10g.75029853A>GCA377299739DUSP29,KAT6Bc.5029A>G (p.Thr1677Ala)
c.4480A>G (p.Thr1494Ala)
c.4153A>G (p.Thr1385Ala)
n.577-3259T>C
c.*3622-3259T>C (n.*3622-3259T>C)
c.4867A>G (p.Thr1623Ala)
c.3991A>G (p.Thr1331Ala)
c.3340A>G (p.Thr1114Ala)
c.2944A>G (p.Thr982Ala)
c.2686A>G (p.Thr896Ala)
c.3964A>G (p.Thr1322Ala)
 gnomAD v3 gnomAD v4
10g.75029853A>TCA377299741DUSP29,KAT6Bc.5029A>T (p.Thr1677Ser)
c.4480A>T (p.Thr1494Ser)
c.4153A>T (p.Thr1385Ser)
n.577-3259T>A
c.*3622-3259T>A (n.*3622-3259T>A)
c.4867A>T (p.Thr1623Ser)
c.3991A>T (p.Thr1331Ser)
c.3340A>T (p.Thr1114Ser)
c.2944A>T (p.Thr982Ser)
c.2686A>T (p.Thr896Ser)
c.3964A>T (p.Thr1322Ser)
10g.75029853_75029854delinsACCA1920306854DUSP29,KAT6Bc.5029_5030delinsAC (p.Thr1677=)
c.4480_4481delinsAC (p.Thr1494=)
c.4153_4154delinsAC (p.Thr1385=)
n.577-3260_577-3259delinsGT
c.*3622-3260_*3622-3259delinsGT (n.*3622-3260_*3622-3259delinsGT)
c.4867_4868delinsAC (p.Thr1623=)
c.3991_3992delinsAC (p.Thr1331=)
c.3340_3341delinsAC (p.Thr1114=)
c.2944_2945delinsAC (p.Thr982=)
c.2686_2687delinsAC (p.Thr896=)
c.3964_3965delinsAC (p.Thr1322=)
10g.75029854delCA232613DUSP29,KAT6Bc.5030del (p.Thr1677MetfsTer?)
c.4481del (p.Thr1494MetfsTer?)
c.4154del (p.Thr1385MetfsTer?)
n.577-3260del
c.*3622-3260del (n.*3622-3260del)
c.4868del (p.Thr1623MetfsTer?)
c.3992del (p.Thr1331MetfsTer?)
c.3341del (p.Thr1114MetfsTer?)
c.2945del (p.Thr982MetfsTer?)
c.2687del (p.Thr896MetfsTer?)
c.3965del (p.Thr1322MetfsTer?)
 ClinVar dbSNP
10g.75029854C>ACA377299746DUSP29,KAT6Bc.5030C>A (p.Thr1677Asn)
c.4481C>A (p.Thr1494Asn)
c.4154C>A (p.Thr1385Asn)
n.577-3260G>T
c.*3622-3260G>T (n.*3622-3260G>T)
c.4868C>A (p.Thr1623Asn)
c.3992C>A (p.Thr1331Asn)
c.3341C>A (p.Thr1114Asn)
c.2945C>A (p.Thr982Asn)
c.2687C>A (p.Thr896Asn)
c.3965C>A (p.Thr1322Asn)
 gnomAD v4
10g.75029854C=CA1920306855DUSP29,KAT6Bc.5030C= (p.Thr1677=)
c.4481C= (p.Thr1494=)
c.4154C= (p.Thr1385=)
n.577-3260G=
c.*3622-3260G= (n.*3622-3260G=)
c.4868C= (p.Thr1623=)
c.3992C= (p.Thr1331=)
c.3341C= (p.Thr1114=)
c.2945C= (p.Thr982=)
c.2687C= (p.Thr896=)
c.3965C= (p.Thr1322=)
10g.75029854C>GCA377299748DUSP29,KAT6Bc.5030C>G (p.Thr1677Ser)
c.4481C>G (p.Thr1494Ser)
c.4154C>G (p.Thr1385Ser)
n.577-3260G>C
c.*3622-3260G>C (n.*3622-3260G>C)
c.4868C>G (p.Thr1623Ser)
c.3992C>G (p.Thr1331Ser)
c.3341C>G (p.Thr1114Ser)
c.2945C>G (p.Thr982Ser)
c.2687C>G (p.Thr896Ser)
c.3965C>G (p.Thr1322Ser)
10g.75029854C>TCA377299744DUSP29,KAT6Bc.5030C>T (p.Thr1677Ile)
c.4481C>T (p.Thr1494Ile)
c.4154C>T (p.Thr1385Ile)
n.577-3260G>A
c.*3622-3260G>A (n.*3622-3260G>A)
c.4868C>T (p.Thr1623Ile)
c.3992C>T (p.Thr1331Ile)
c.3341C>T (p.Thr1114Ile)
c.2945C>T (p.Thr982Ile)
c.2687C>T (p.Thr896Ile)
c.3965C>T (p.Thr1322Ile)
 dbSNP gnomAD v3 gnomAD v4
10g.75029855T>ACA470300005DUSP29,KAT6Bc.5031T>A (p.Thr1677=)
c.4482T>A (p.Thr1494=)
c.4155T>A (p.Thr1385=)
n.577-3261A>T
c.*3622-3261A>T (n.*3622-3261A>T)
c.4869T>A (p.Thr1623=)
c.3993T>A (p.Thr1331=)
c.3342T>A (p.Thr1114=)
c.2946T>A (p.Thr982=)
c.2688T>A (p.Thr896=)
c.3966T>A (p.Thr1322=)
10g.75029855T>CCA209710330DUSP29,KAT6Bc.5031T>C (p.Thr1677=)
c.4482T>C (p.Thr1494=)
c.4155T>C (p.Thr1385=)
n.577-3261A>G
c.*3622-3261A>G (n.*3622-3261A>G)
c.4869T>C (p.Thr1623=)
c.3993T>C (p.Thr1331=)
c.3342T>C (p.Thr1114=)
c.2946T>C (p.Thr982=)
c.2688T>C (p.Thr896=)
c.3966T>C (p.Thr1322=)
 dbSNP gnomAD v2 gnomAD v4
10g.75029855T>GCA470300007DUSP29,KAT6Bc.5031T>G (p.Thr1677=)
c.4482T>G (p.Thr1494=)
c.4155T>G (p.Thr1385=)
n.577-3261A>C
c.*3622-3261A>C (n.*3622-3261A>C)
c.4869T>G (p.Thr1623=)
c.3993T>G (p.Thr1331=)
c.3342T>G (p.Thr1114=)
c.2946T>G (p.Thr982=)
c.2688T>G (p.Thr896=)
c.3966T>G (p.Thr1322=)
10g.75029855T=CA1920306856DUSP29,KAT6Bc.5031T= (p.Thr1677=)
c.4482T= (p.Thr1494=)
c.4155T= (p.Thr1385=)
n.577-3261A=
c.*3622-3261A= (n.*3622-3261A=)
c.4869T= (p.Thr1623=)
c.3993T= (p.Thr1331=)
c.3342T= (p.Thr1114=)
c.2946T= (p.Thr982=)
c.2688T= (p.Thr896=)
c.3966T= (p.Thr1322=)
10g.75029855dupCA2573053309DUSP29,KAT6Bc.5031dup (p.Glu1678Ter)
c.4482dup (p.Glu1495Ter)
c.4155dup (p.Glu1386Ter)
n.577-3261dup
c.*3622-3261dup (n.*3622-3261dup)
c.4869dup (p.Glu1624Ter)
c.3993dup (p.Glu1332Ter)
c.3342dup (p.Glu1115Ter)
c.2946dup (p.Glu983Ter)
c.2688dup (p.Glu897Ter)
c.3966dup (p.Glu1323Ter)
 ClinVar dbSNP
10g.75029856G>ACA377299750DUSP29,KAT6Bc.5032G>A (p.Glu1678Lys)
c.4483G>A (p.Glu1495Lys)
c.4156G>A (p.Glu1386Lys)
n.577-3262C>T
c.*3622-3262C>T (n.*3622-3262C>T)
c.4870G>A (p.Glu1624Lys)
c.3994G>A (p.Glu1332Lys)
c.3343G>A (p.Glu1115Lys)
c.2947G>A (p.Glu983Lys)
c.2689G>A (p.Glu897Lys)
c.3967G>A (p.Glu1323Lys)
10g.75029856G>CCA377299752DUSP29,KAT6Bc.5032G>C (p.Glu1678Gln)
c.4483G>C (p.Glu1495Gln)
c.4156G>C (p.Glu1386Gln)
n.577-3262C>G
c.*3622-3262C>G (n.*3622-3262C>G)
c.4870G>C (p.Glu1624Gln)
c.3994G>C (p.Glu1332Gln)
c.3343G>C (p.Glu1115Gln)
c.2947G>C (p.Glu983Gln)
c.2689G>C (p.Glu897Gln)
c.3967G>C (p.Glu1323Gln)
10g.75029856G>TCA377299754DUSP29,KAT6Bc.5032G>T (p.Glu1678Ter)
c.4483G>T (p.Glu1495Ter)
c.4156G>T (p.Glu1386Ter)
n.577-3262C>A
c.*3622-3262C>A (n.*3622-3262C>A)
c.4870G>T (p.Glu1624Ter)
c.3994G>T (p.Glu1332Ter)
c.3343G>T (p.Glu1115Ter)
c.2947G>T (p.Glu983Ter)
c.2689G>T (p.Glu897Ter)
c.3967G>T (p.Glu1323Ter)
10g.75029857A>CCA377299755DUSP29,KAT6Bc.5033A>C (p.Glu1678Ala)
c.4484A>C (p.Glu1495Ala)
c.4157A>C (p.Glu1386Ala)
n.577-3263T>G
c.*3622-3263T>G (n.*3622-3263T>G)
c.4871A>C (p.Glu1624Ala)
c.3995A>C (p.Glu1332Ala)
c.3344A>C (p.Glu1115Ala)
c.2948A>C (p.Glu983Ala)
c.2690A>C (p.Glu897Ala)
c.3968A>C (p.Glu1323Ala)
10g.75029857A>GCA377299757DUSP29,KAT6Bc.5033A>G (p.Glu1678Gly)
c.4484A>G (p.Glu1495Gly)
c.4157A>G (p.Glu1386Gly)
n.577-3263T>C
c.*3622-3263T>C (n.*3622-3263T>C)
c.4871A>G (p.Glu1624Gly)
c.3995A>G (p.Glu1332Gly)
c.3344A>G (p.Glu1115Gly)
c.2948A>G (p.Glu983Gly)
c.2690A>G (p.Glu897Gly)
c.3968A>G (p.Glu1323Gly)
10g.75029857A>TCA377299759DUSP29,KAT6Bc.5033A>T (p.Glu1678Val)
c.4484A>T (p.Glu1495Val)
c.4157A>T (p.Glu1386Val)
n.577-3263T>A
c.*3622-3263T>A (n.*3622-3263T>A)
c.4871A>T (p.Glu1624Val)
c.3995A>T (p.Glu1332Val)
c.3344A>T (p.Glu1115Val)
c.2948A>T (p.Glu983Val)
c.2690A>T (p.Glu897Val)
c.3968A>T (p.Glu1323Val)
10g.75029858G>ACA470300016DUSP29,KAT6Bc.5034G>A (p.Glu1678=)
c.4485G>A (p.Glu1495=)
c.4158G>A (p.Glu1386=)
n.577-3264C>T
c.*3622-3264C>T (n.*3622-3264C>T)
c.4872G>A (p.Glu1624=)
c.3996G>A (p.Glu1332=)
c.3345G>A (p.Glu1115=)
c.2949G>A (p.Glu983=)
c.2691G>A (p.Glu897=)
c.3969G>A (p.Glu1323=)
10g.75029858G>CCA377299761DUSP29,KAT6Bc.5034G>C (p.Glu1678Asp)
c.4485G>C (p.Glu1495Asp)
c.4158G>C (p.Glu1386Asp)
n.577-3264C>G
c.*3622-3264C>G (n.*3622-3264C>G)
c.4872G>C (p.Glu1624Asp)
c.3996G>C (p.Glu1332Asp)
c.3345G>C (p.Glu1115Asp)
c.2949G>C (p.Glu983Asp)
c.2691G>C (p.Glu897Asp)
c.3969G>C (p.Glu1323Asp)
10g.75029858G>TCA377299762DUSP29,KAT6Bc.5034G>T (p.Glu1678Asp)
c.4485G>T (p.Glu1495Asp)
c.4158G>T (p.Glu1386Asp)
n.577-3264C>A
c.*3622-3264C>A (n.*3622-3264C>A)
c.4872G>T (p.Glu1624Asp)
c.3996G>T (p.Glu1332Asp)
c.3345G>T (p.Glu1115Asp)
c.2949G>T (p.Glu983Asp)
c.2691G>T (p.Glu897Asp)
c.3969G>T (p.Glu1323Asp)
10g.75029859A>CCA377299765DUSP29,KAT6Bc.5035A>C (p.Asn1679His)
c.4486A>C (p.Asn1496His)
c.4159A>C (p.Asn1387His)
n.577-3265T>G
c.*3622-3265T>G (n.*3622-3265T>G)
c.4873A>C (p.Asn1625His)
c.3997A>C (p.Asn1333His)
c.3346A>C (p.Asn1116His)
c.2950A>C (p.Asn984His)
c.2692A>C (p.Asn898His)
c.3970A>C (p.Asn1324His)
10g.75029859A>GCA377299766DUSP29,KAT6Bc.5035A>G (p.Asn1679Asp)
c.4486A>G (p.Asn1496Asp)
c.4159A>G (p.Asn1387Asp)
n.577-3265T>C
c.*3622-3265T>C (n.*3622-3265T>C)
c.4873A>G (p.Asn1625Asp)
c.3997A>G (p.Asn1333Asp)
c.3346A>G (p.Asn1116Asp)
c.2950A>G (p.Asn984Asp)
c.2692A>G (p.Asn898Asp)
c.3970A>G (p.Asn1324Asp)
10g.75029859A>TCA377299768DUSP29,KAT6Bc.5035A>T (p.Asn1679Tyr)
c.4486A>T (p.Asn1496Tyr)
c.4159A>T (p.Asn1387Tyr)
n.577-3265T>A
c.*3622-3265T>A (n.*3622-3265T>A)
c.4873A>T (p.Asn1625Tyr)
c.3997A>T (p.Asn1333Tyr)
c.3346A>T (p.Asn1116Tyr)
c.2950A>T (p.Asn984Tyr)
c.2692A>T (p.Asn898Tyr)
c.3970A>T (p.Asn1324Tyr)
10g.75029860A>CCA377299770DUSP29,KAT6Bc.5036A>C (p.Asn1679Thr)
c.4487A>C (p.Asn1496Thr)
c.4160A>C (p.Asn1387Thr)
n.577-3266T>G
c.*3622-3266T>G (n.*3622-3266T>G)
c.4874A>C (p.Asn1625Thr)
c.3998A>C (p.Asn1333Thr)
c.3347A>C (p.Asn1116Thr)
c.2951A>C (p.Asn984Thr)
c.2693A>C (p.Asn898Thr)
c.3971A>C (p.Asn1324Thr)
10g.75029860A>GCA377299771DUSP29,KAT6Bc.5036A>G (p.Asn1679Ser)
c.4487A>G (p.Asn1496Ser)
c.4160A>G (p.Asn1387Ser)
n.577-3266T>C
c.*3622-3266T>C (n.*3622-3266T>C)
c.4874A>G (p.Asn1625Ser)
c.3998A>G (p.Asn1333Ser)
c.3347A>G (p.Asn1116Ser)
c.2951A>G (p.Asn984Ser)
c.2693A>G (p.Asn898Ser)
c.3971A>G (p.Asn1324Ser)
10g.75029860A>TCA377299772DUSP29,KAT6Bc.5036A>T (p.Asn1679Ile)
c.4487A>T (p.Asn1496Ile)
c.4160A>T (p.Asn1387Ile)
n.577-3266T>A
c.*3622-3266T>A (n.*3622-3266T>A)
c.4874A>T (p.Asn1625Ile)
c.3998A>T (p.Asn1333Ile)
c.3347A>T (p.Asn1116Ile)
c.2951A>T (p.Asn984Ile)
c.2693A>T (p.Asn898Ile)
c.3971A>T (p.Asn1324Ile)
10g.75029861C>ACA377299773DUSP29,KAT6Bc.5037C>A (p.Asn1679Lys)
c.4488C>A (p.Asn1496Lys)
c.4161C>A (p.Asn1387Lys)
n.577-3267G>T
c.*3622-3267G>T (n.*3622-3267G>T)
c.4875C>A (p.Asn1625Lys)
c.3999C>A (p.Asn1333Lys)
c.3348C>A (p.Asn1116Lys)
c.2952C>A (p.Asn984Lys)
c.2694C>A (p.Asn898Lys)
c.3972C>A (p.Asn1324Lys)
10g.75029861C>GCA377299774DUSP29,KAT6Bc.5037C>G (p.Asn1679Lys)
c.4488C>G (p.Asn1496Lys)
c.4161C>G (p.Asn1387Lys)
n.577-3267G>C
c.*3622-3267G>C (n.*3622-3267G>C)
c.4875C>G (p.Asn1625Lys)
c.3999C>G (p.Asn1333Lys)
c.3348C>G (p.Asn1116Lys)
c.2952C>G (p.Asn984Lys)
c.2694C>G (p.Asn898Lys)
c.3972C>G (p.Asn1324Lys)
10g.75029861C>TCA470300026DUSP29,KAT6Bc.5037C>T (p.Asn1679=)
c.4488C>T (p.Asn1496=)
c.4161C>T (p.Asn1387=)
n.577-3267G>A
c.*3622-3267G>A (n.*3622-3267G>A)
c.4875C>T (p.Asn1625=)
c.3999C>T (p.Asn1333=)
c.3348C>T (p.Asn1116=)
c.2952C>T (p.Asn984=)
c.2694C>T (p.Asn898=)
c.3972C>T (p.Asn1324=)
10g.75029862T>ACA377299775DUSP29,KAT6Bc.5038T>A (p.Tyr1680Asn)
c.4489T>A (p.Tyr1497Asn)
c.4162T>A (p.Tyr1388Asn)
n.577-3268A>T
c.*3622-3268A>T (n.*3622-3268A>T)
c.4876T>A (p.Tyr1626Asn)
c.4000T>A (p.Tyr1334Asn)
c.3349T>A (p.Tyr1117Asn)
c.2953T>A (p.Tyr985Asn)
c.2695T>A (p.Tyr899Asn)
c.3973T>A (p.Tyr1325Asn)
10g.75029862T>CCA377299776DUSP29,KAT6Bc.5038T>C (p.Tyr1680His)
c.4489T>C (p.Tyr1497His)
c.4162T>C (p.Tyr1388His)
n.577-3268A>G
c.*3622-3268A>G (n.*3622-3268A>G)
c.4876T>C (p.Tyr1626His)
c.4000T>C (p.Tyr1334His)
c.3349T>C (p.Tyr1117His)
c.2953T>C (p.Tyr985His)
c.2695T>C (p.Tyr899His)
c.3973T>C (p.Tyr1325His)
10g.75029862T>GCA377299777DUSP29,KAT6Bc.5038T>G (p.Tyr1680Asp)
c.4489T>G (p.Tyr1497Asp)
c.4162T>G (p.Tyr1388Asp)
n.577-3268A>C
c.*3622-3268A>C (n.*3622-3268A>C)
c.4876T>G (p.Tyr1626Asp)
c.4000T>G (p.Tyr1334Asp)
c.3349T>G (p.Tyr1117Asp)
c.2953T>G (p.Tyr985Asp)
c.2695T>G (p.Tyr899Asp)
c.3973T>G (p.Tyr1325Asp)
10g.75029863A>CCA377299778DUSP29,KAT6Bc.5039A>C (p.Tyr1680Ser)
c.4490A>C (p.Tyr1497Ser)
c.4163A>C (p.Tyr1388Ser)
n.577-3269T>G
c.*3622-3269T>G (n.*3622-3269T>G)
c.4877A>C (p.Tyr1626Ser)
c.4001A>C (p.Tyr1334Ser)
c.3350A>C (p.Tyr1117Ser)
c.2954A>C (p.Tyr985Ser)
c.2696A>C (p.Tyr899Ser)
c.3974A>C (p.Tyr1325Ser)
10g.75029863A>GCA377299779DUSP29,KAT6Bc.5039A>G (p.Tyr1680Cys)
c.4490A>G (p.Tyr1497Cys)
c.4163A>G (p.Tyr1388Cys)
n.577-3269T>C
c.*3622-3269T>C (n.*3622-3269T>C)
c.4877A>G (p.Tyr1626Cys)
c.4001A>G (p.Tyr1334Cys)
c.3350A>G (p.Tyr1117Cys)
c.2954A>G (p.Tyr985Cys)
c.2696A>G (p.Tyr899Cys)
c.3974A>G (p.Tyr1325Cys)
10g.75029863A>TCA377299780DUSP29,KAT6Bc.5039A>T (p.Tyr1680Phe)
c.4490A>T (p.Tyr1497Phe)
c.4163A>T (p.Tyr1388Phe)
n.577-3269T>A
c.*3622-3269T>A (n.*3622-3269T>A)
c.4877A>T (p.Tyr1626Phe)
c.4001A>T (p.Tyr1334Phe)
c.3350A>T (p.Tyr1117Phe)
c.2954A>T (p.Tyr985Phe)
c.2696A>T (p.Tyr899Phe)
c.3974A>T (p.Tyr1325Phe)
10g.75029864C>ACA377299781DUSP29,KAT6Bc.5040C>A (p.Tyr1680Ter)
c.4491C>A (p.Tyr1497Ter)
c.4164C>A (p.Tyr1388Ter)
n.577-3270G>T
c.*3622-3270G>T (n.*3622-3270G>T)
c.4878C>A (p.Tyr1626Ter)
c.4002C>A (p.Tyr1334Ter)
c.3351C>A (p.Tyr1117Ter)
c.2955C>A (p.Tyr985Ter)
c.2697C>A (p.Tyr899Ter)
c.3975C>A (p.Tyr1325Ter)
10g.75029864C=CA1920306857DUSP29,KAT6Bc.5040C= (p.Tyr1680=)
c.4491C= (p.Tyr1497=)
c.4164C= (p.Tyr1388=)
n.577-3270G=
c.*3622-3270G= (n.*3622-3270G=)
c.4878C= (p.Tyr1626=)
c.4002C= (p.Tyr1334=)
c.3351C= (p.Tyr1117=)
c.2955C= (p.Tyr985=)
c.2697C= (p.Tyr899=)
c.3975C= (p.Tyr1325=)
10g.75029864C>GCA377299782DUSP29,KAT6Bc.5040C>G (p.Tyr1680Ter)
c.4491C>G (p.Tyr1497Ter)
c.4164C>G (p.Tyr1388Ter)
n.577-3270G>C
c.*3622-3270G>C (n.*3622-3270G>C)
c.4878C>G (p.Tyr1626Ter)
c.4002C>G (p.Tyr1334Ter)
c.3351C>G (p.Tyr1117Ter)
c.2955C>G (p.Tyr985Ter)
c.2697C>G (p.Tyr899Ter)
c.3975C>G (p.Tyr1325Ter)
 ClinVar dbSNP
10g.75029864C>TCA5565133DUSP29,KAT6Bc.5040C>T (p.Tyr1680=)
c.4491C>T (p.Tyr1497=)
c.4164C>T (p.Tyr1388=)
n.577-3270G>A
c.*3622-3270G>A (n.*3622-3270G>A)
c.4878C>T (p.Tyr1626=)
c.4002C>T (p.Tyr1334=)
c.3351C>T (p.Tyr1117=)
c.2955C>T (p.Tyr985=)
c.2697C>T (p.Tyr899=)
c.3975C>T (p.Tyr1325=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.75029865G>ACA377299783DUSP29,KAT6Bc.5041G>A (p.Glu1681Lys)
c.4492G>A (p.Glu1498Lys)
c.4165G>A (p.Glu1389Lys)
n.577-3271C>T
c.*3622-3271C>T (n.*3622-3271C>T)
c.4879G>A (p.Glu1627Lys)
c.4003G>A (p.Glu1335Lys)
c.3352G>A (p.Glu1118Lys)
c.2956G>A (p.Glu986Lys)
c.2698G>A (p.Glu900Lys)
c.3976G>A (p.Glu1326Lys)
 ClinVar dbSNP gnomAD v4 COSMIC
10g.75029865G>CCA377299784DUSP29,KAT6Bc.5041G>C (p.Glu1681Gln)
c.4492G>C (p.Glu1498Gln)
c.4165G>C (p.Glu1389Gln)
n.577-3271C>G
c.*3622-3271C>G (n.*3622-3271C>G)
c.4879G>C (p.Glu1627Gln)
c.4003G>C (p.Glu1335Gln)
c.3352G>C (p.Glu1118Gln)
c.2956G>C (p.Glu986Gln)
c.2698G>C (p.Glu900Gln)
c.3976G>C (p.Glu1326Gln)
10g.75029865G=CA1920306858DUSP29,KAT6Bc.5041G= (p.Glu1681=)
c.4492G= (p.Glu1498=)
c.4165G= (p.Glu1389=)
n.577-3271C=
c.*3622-3271C= (n.*3622-3271C=)
c.4879G= (p.Glu1627=)
c.4003G= (p.Glu1335=)
c.3352G= (p.Glu1118=)
c.2956G= (p.Glu986=)
c.2698G= (p.Glu900=)
c.3976G= (p.Glu1326=)
10g.75029865G>TCA377299785DUSP29,KAT6Bc.5041G>T (p.Glu1681Ter)
c.4492G>T (p.Glu1498Ter)
c.4165G>T (p.Glu1389Ter)
n.577-3271C>A
c.*3622-3271C>A (n.*3622-3271C>A)
c.4879G>T (p.Glu1627Ter)
c.4003G>T (p.Glu1335Ter)
c.3352G>T (p.Glu1118Ter)
c.2956G>T (p.Glu986Ter)
c.2698G>T (p.Glu900Ter)
c.3976G>T (p.Glu1326Ter)
10g.75029866A>CCA377299786DUSP29,KAT6Bc.5042A>C (p.Glu1681Ala)
c.4493A>C (p.Glu1498Ala)
c.4166A>C (p.Glu1389Ala)
n.577-3272T>G
c.*3622-3272T>G (n.*3622-3272T>G)
c.4880A>C (p.Glu1627Ala)
c.4004A>C (p.Glu1335Ala)
c.3353A>C (p.Glu1118Ala)
c.2957A>C (p.Glu986Ala)
c.2699A>C (p.Glu900Ala)
c.3977A>C (p.Glu1326Ala)
10g.75029866A>GCA377299788DUSP29,KAT6Bc.5042A>G (p.Glu1681Gly)
c.4493A>G (p.Glu1498Gly)
c.4166A>G (p.Glu1389Gly)
n.577-3272T>C
c.*3622-3272T>C (n.*3622-3272T>C)
c.4880A>G (p.Glu1627Gly)
c.4004A>G (p.Glu1335Gly)
c.3353A>G (p.Glu1118Gly)
c.2957A>G (p.Glu986Gly)
c.2699A>G (p.Glu900Gly)
c.3977A>G (p.Glu1326Gly)
10g.75029866A>TCA377299787DUSP29,KAT6Bc.5042A>T (p.Glu1681Val)
c.4493A>T (p.Glu1498Val)
c.4166A>T (p.Glu1389Val)
n.577-3272T>A
c.*3622-3272T>A (n.*3622-3272T>A)
c.4880A>T (p.Glu1627Val)
c.4004A>T (p.Glu1335Val)
c.3353A>T (p.Glu1118Val)
c.2957A>T (p.Glu986Val)
c.2699A>T (p.Glu900Val)
c.3977A>T (p.Glu1326Val)
10g.75029867A>CCA377299789DUSP29,KAT6Bc.5043A>C (p.Glu1681Asp)
c.4494A>C (p.Glu1498Asp)
c.4167A>C (p.Glu1389Asp)
n.577-3273T>G
c.*3622-3273T>G (n.*3622-3273T>G)
c.4881A>C (p.Glu1627Asp)
c.4005A>C (p.Glu1335Asp)
c.3354A>C (p.Glu1118Asp)
c.2958A>C (p.Glu986Asp)
c.2700A>C (p.Glu900Asp)
c.3978A>C (p.Glu1326Asp)
10g.75029867A>GCA470300035DUSP29,KAT6Bc.5043A>G (p.Glu1681=)
c.4494A>G (p.Glu1498=)
c.4167A>G (p.Glu1389=)
n.577-3273T>C
c.*3622-3273T>C (n.*3622-3273T>C)
c.4881A>G (p.Glu1627=)
c.4005A>G (p.Glu1335=)
c.3354A>G (p.Glu1118=)
c.2958A>G (p.Glu986=)
c.2700A>G (p.Glu900=)
c.3978A>G (p.Glu1326=)
10g.75029867A>TCA377299790DUSP29,KAT6Bc.5043A>T (p.Glu1681Asp)
c.4494A>T (p.Glu1498Asp)
c.4167A>T (p.Glu1389Asp)
n.577-3273T>A
c.*3622-3273T>A (n.*3622-3273T>A)
c.4881A>T (p.Glu1627Asp)
c.4005A>T (p.Glu1335Asp)
c.3354A>T (p.Glu1118Asp)
c.2958A>T (p.Glu986Asp)
c.2700A>T (p.Glu900Asp)
c.3978A>T (p.Glu1326Asp)
10g.75029868A>CCA377299791DUSP29,KAT6Bc.5044A>C (p.Asn1682His)
c.4495A>C (p.Asn1499His)
c.4168A>C (p.Asn1390His)
n.577-3274T>G
c.*3622-3274T>G (n.*3622-3274T>G)
c.4882A>C (p.Asn1628His)
c.4006A>C (p.Asn1336His)
c.3355A>C (p.Asn1119His)
c.2959A>C (p.Asn987His)
c.2701A>C (p.Asn901His)
c.3979A>C (p.Asn1327His)
10g.75029868A>GCA377299793DUSP29,KAT6Bc.5044A>G (p.Asn1682Asp)
c.4495A>G (p.Asn1499Asp)
c.4168A>G (p.Asn1390Asp)
n.577-3274T>C
c.*3622-3274T>C (n.*3622-3274T>C)
c.4882A>G (p.Asn1628Asp)
c.4006A>G (p.Asn1336Asp)
c.3355A>G (p.Asn1119Asp)
c.2959A>G (p.Asn987Asp)
c.2701A>G (p.Asn901Asp)
c.3979A>G (p.Asn1327Asp)
10g.75029868A>TCA377299792DUSP29,KAT6Bc.5044A>T (p.Asn1682Tyr)
c.4495A>T (p.Asn1499Tyr)
c.4168A>T (p.Asn1390Tyr)
n.577-3274T>A
c.*3622-3274T>A (n.*3622-3274T>A)
c.4882A>T (p.Asn1628Tyr)
c.4006A>T (p.Asn1336Tyr)
c.3355A>T (p.Asn1119Tyr)
c.2959A>T (p.Asn987Tyr)
c.2701A>T (p.Asn901Tyr)
c.3979A>T (p.Asn1327Tyr)
10g.75029869A>CCA377299794DUSP29,KAT6Bc.5045A>C (p.Asn1682Thr)
c.4496A>C (p.Asn1499Thr)
c.4169A>C (p.Asn1390Thr)
n.577-3275T>G
c.*3622-3275T>G (n.*3622-3275T>G)
c.4883A>C (p.Asn1628Thr)
c.4007A>C (p.Asn1336Thr)
c.3356A>C (p.Asn1119Thr)
c.2960A>C (p.Asn987Thr)
c.2702A>C (p.Asn901Thr)
c.3980A>C (p.Asn1327Thr)
10g.75029869A>GCA377299795DUSP29,KAT6Bc.5045A>G (p.Asn1682Ser)
c.4496A>G (p.Asn1499Ser)
c.4169A>G (p.Asn1390Ser)
n.577-3275T>C
c.*3622-3275T>C (n.*3622-3275T>C)
c.4883A>G (p.Asn1628Ser)
c.4007A>G (p.Asn1336Ser)
c.3356A>G (p.Asn1119Ser)
c.2960A>G (p.Asn987Ser)
c.2702A>G (p.Asn901Ser)
c.3980A>G (p.Asn1327Ser)
 COSMIC
10g.75029869A>TCA377299796DUSP29,KAT6Bc.5045A>T (p.Asn1682Ile)
c.4496A>T (p.Asn1499Ile)
c.4169A>T (p.Asn1390Ile)
n.577-3275T>A
c.*3622-3275T>A (n.*3622-3275T>A)
c.4883A>T (p.Asn1628Ile)
c.4007A>T (p.Asn1336Ile)
c.3356A>T (p.Asn1119Ile)
c.2960A>T (p.Asn987Ile)
c.2702A>T (p.Asn901Ile)
c.3980A>T (p.Asn1327Ile)
10g.75029870C>ACA377299797DUSP29,KAT6Bc.5046C>A (p.Asn1682Lys)
c.4497C>A (p.Asn1499Lys)
c.4170C>A (p.Asn1390Lys)
n.577-3276G>T
c.*3622-3276G>T (n.*3622-3276G>T)
c.4884C>A (p.Asn1628Lys)
c.4008C>A (p.Asn1336Lys)
c.3357C>A (p.Asn1119Lys)
c.2961C>A (p.Asn987Lys)
c.2703C>A (p.Asn901Lys)
c.3981C>A (p.Asn1327Lys)
10g.75029870C>GCA377299798DUSP29,KAT6Bc.5046C>G (p.Asn1682Lys)
c.4497C>G (p.Asn1499Lys)
c.4170C>G (p.Asn1390Lys)
n.577-3276G>C
c.*3622-3276G>C (n.*3622-3276G>C)
c.4884C>G (p.Asn1628Lys)
c.4008C>G (p.Asn1336Lys)
c.3357C>G (p.Asn1119Lys)
c.2961C>G (p.Asn987Lys)
c.2703C>G (p.Asn901Lys)
c.3981C>G (p.Asn1327Lys)
10g.75029870C>TCA470300042DUSP29,KAT6Bc.5046C>T (p.Asn1682=)
c.4497C>T (p.Asn1499=)
c.4170C>T (p.Asn1390=)
n.577-3276G>A
c.*3622-3276G>A (n.*3622-3276G>A)
c.4884C>T (p.Asn1628=)
c.4008C>T (p.Asn1336=)
c.3357C>T (p.Asn1119=)
c.2961C>T (p.Asn987=)
c.2703C>T (p.Asn901=)
c.3981C>T (p.Asn1327=)
 gnomAD v4
10g.75029871C>ACA377299799DUSP29,KAT6Bc.5047C>A (p.Pro1683Thr)
c.4498C>A (p.Pro1500Thr)
c.4171C>A (p.Pro1391Thr)
n.577-3277G>T
c.*3622-3277G>T (n.*3622-3277G>T)
c.4885C>A (p.Pro1629Thr)
c.4009C>A (p.Pro1337Thr)
c.3358C>A (p.Pro1120Thr)
c.2962C>A (p.Pro988Thr)
c.2704C>A (p.Pro902Thr)
c.3982C>A (p.Pro1328Thr)
10g.75029871C>GCA377299800DUSP29,KAT6Bc.5047C>G (p.Pro1683Ala)
c.4498C>G (p.Pro1500Ala)
c.4171C>G (p.Pro1391Ala)
n.577-3277G>C
c.*3622-3277G>C (n.*3622-3277G>C)
c.4885C>G (p.Pro1629Ala)
c.4009C>G (p.Pro1337Ala)
c.3358C>G (p.Pro1120Ala)
c.2962C>G (p.Pro988Ala)
c.2704C>G (p.Pro902Ala)
c.3982C>G (p.Pro1328Ala)
 gnomAD v4
10g.75029871C>TCA377299801DUSP29,KAT6Bc.5047C>T (p.Pro1683Ser)
c.4498C>T (p.Pro1500Ser)
c.4171C>T (p.Pro1391Ser)
n.577-3277G>A
c.*3622-3277G>A (n.*3622-3277G>A)
c.4885C>T (p.Pro1629Ser)
c.4009C>T (p.Pro1337Ser)
c.3358C>T (p.Pro1120Ser)
c.2962C>T (p.Pro988Ser)
c.2704C>T (p.Pro902Ser)
c.3982C>T (p.Pro1328Ser)
10g.75029872C>ACA377299802DUSP29,KAT6Bc.5048C>A (p.Pro1683Gln)
c.4499C>A (p.Pro1500Gln)
c.4172C>A (p.Pro1391Gln)
n.577-3278G>T
c.*3622-3278G>T (n.*3622-3278G>T)
c.4886C>A (p.Pro1629Gln)
c.4010C>A (p.Pro1337Gln)
c.3359C>A (p.Pro1120Gln)
c.2963C>A (p.Pro988Gln)
c.2705C>A (p.Pro902Gln)
c.3983C>A (p.Pro1328Gln)
10g.75029872C>GCA377299803DUSP29,KAT6Bc.5048C>G (p.Pro1683Arg)
c.4499C>G (p.Pro1500Arg)
c.4172C>G (p.Pro1391Arg)
n.577-3278G>C
c.*3622-3278G>C (n.*3622-3278G>C)
c.4886C>G (p.Pro1629Arg)
c.4010C>G (p.Pro1337Arg)
c.3359C>G (p.Pro1120Arg)
c.2963C>G (p.Pro988Arg)
c.2705C>G (p.Pro902Arg)
c.3983C>G (p.Pro1328Arg)
10g.75029872C>TCA377299804DUSP29,KAT6Bc.5048C>T (p.Pro1683Leu)
c.4499C>T (p.Pro1500Leu)
c.4172C>T (p.Pro1391Leu)
n.577-3278G>A
c.*3622-3278G>A (n.*3622-3278G>A)
c.4886C>T (p.Pro1629Leu)
c.4010C>T (p.Pro1337Leu)
c.3359C>T (p.Pro1120Leu)
c.2963C>T (p.Pro988Leu)
c.2705C>T (p.Pro902Leu)
c.3983C>T (p.Pro1328Leu)
10g.75029873A>CCA470300048DUSP29,KAT6Bc.5049A>C (p.Pro1683=)
c.4500A>C (p.Pro1500=)
c.4173A>C (p.Pro1391=)
n.577-3279T>G
c.*3622-3279T>G (n.*3622-3279T>G)
c.4887A>C (p.Pro1629=)
c.4011A>C (p.Pro1337=)
c.3360A>C (p.Pro1120=)
c.2964A>C (p.Pro988=)
c.2706A>C (p.Pro902=)
c.3984A>C (p.Pro1328=)
10g.75029873A>GCA470300049DUSP29,KAT6Bc.5049A>G (p.Pro1683=)
c.4500A>G (p.Pro1500=)
c.4173A>G (p.Pro1391=)
n.577-3279T>C
c.*3622-3279T>C (n.*3622-3279T>C)
c.4887A>G (p.Pro1629=)
c.4011A>G (p.Pro1337=)
c.3360A>G (p.Pro1120=)
c.2964A>G (p.Pro988=)
c.2706A>G (p.Pro902=)
c.3984A>G (p.Pro1328=)
10g.75029873A>TCA470300050DUSP29,KAT6Bc.5049A>T (p.Pro1683=)
c.4500A>T (p.Pro1500=)
c.4173A>T (p.Pro1391=)
n.577-3279T>A
c.*3622-3279T>A (n.*3622-3279T>A)
c.4887A>T (p.Pro1629=)
c.4011A>T (p.Pro1337=)
c.3360A>T (p.Pro1120=)
c.2964A>T (p.Pro988=)
c.2706A>T (p.Pro902=)
c.3984A>T (p.Pro1328=)
10g.75029874A>CCA377299805DUSP29,KAT6Bc.5050A>C (p.Ser1684Arg)
c.4501A>C (p.Ser1501Arg)
c.4174A>C (p.Ser1392Arg)
n.577-3280T>G
c.*3622-3280T>G (n.*3622-3280T>G)
c.4888A>C (p.Ser1630Arg)
c.4012A>C (p.Ser1338Arg)
c.3361A>C (p.Ser1121Arg)
c.2965A>C (p.Ser989Arg)
c.2707A>C (p.Ser903Arg)
c.3985A>C (p.Ser1329Arg)
10g.75029874A>GCA377299807DUSP29,KAT6Bc.5050A>G (p.Ser1684Gly)
c.4501A>G (p.Ser1501Gly)
c.4174A>G (p.Ser1392Gly)
n.577-3280T>C
c.*3622-3280T>C (n.*3622-3280T>C)
c.4888A>G (p.Ser1630Gly)
c.4012A>G (p.Ser1338Gly)
c.3361A>G (p.Ser1121Gly)
c.2965A>G (p.Ser989Gly)
c.2707A>G (p.Ser903Gly)
c.3985A>G (p.Ser1329Gly)
 ClinVar gnomAD v4
10g.75029874A>TCA377299806DUSP29,KAT6Bc.5050A>T (p.Ser1684Cys)
c.4501A>T (p.Ser1501Cys)
c.4174A>T (p.Ser1392Cys)
n.577-3280T>A
c.*3622-3280T>A (n.*3622-3280T>A)
c.4888A>T (p.Ser1630Cys)
c.4012A>T (p.Ser1338Cys)
c.3361A>T (p.Ser1121Cys)
c.2965A>T (p.Ser989Cys)
c.2707A>T (p.Ser903Cys)
c.3985A>T (p.Ser1329Cys)
10g.75029875G>ACA377299808DUSP29,KAT6Bc.5051G>A (p.Ser1684Asn)
c.4502G>A (p.Ser1501Asn)
c.4175G>A (p.Ser1392Asn)
n.577-3281C>T
c.*3622-3281C>T (n.*3622-3281C>T)
c.4889G>A (p.Ser1630Asn)
c.4013G>A (p.Ser1338Asn)
c.3362G>A (p.Ser1121Asn)
c.2966G>A (p.Ser989Asn)
c.2708G>A (p.Ser903Asn)
c.3986G>A (p.Ser1329Asn)
10g.75029875G>CCA377299809DUSP29,KAT6Bc.5051G>C (p.Ser1684Thr)
c.4502G>C (p.Ser1501Thr)
c.4175G>C (p.Ser1392Thr)
n.577-3281C>G
c.*3622-3281C>G (n.*3622-3281C>G)
c.4889G>C (p.Ser1630Thr)
c.4013G>C (p.Ser1338Thr)
c.3362G>C (p.Ser1121Thr)
c.2966G>C (p.Ser989Thr)
c.2708G>C (p.Ser903Thr)
c.3986G>C (p.Ser1329Thr)
10g.75029875G>TCA377299810DUSP29,KAT6Bc.5051G>T (p.Ser1684Ile)
c.4502G>T (p.Ser1501Ile)
c.4175G>T (p.Ser1392Ile)
n.577-3281C>A
c.*3622-3281C>A (n.*3622-3281C>A)
c.4889G>T (p.Ser1630Ile)
c.4013G>T (p.Ser1338Ile)
c.3362G>T (p.Ser1121Ile)
c.2966G>T (p.Ser989Ile)
c.2708G>T (p.Ser903Ile)
c.3986G>T (p.Ser1329Ile)
10g.75029876C>ACA377299811DUSP29,KAT6Bc.5052C>A (p.Ser1684Arg)
c.4503C>A (p.Ser1501Arg)
c.4176C>A (p.Ser1392Arg)
n.577-3282G>T
c.*3622-3282G>T (n.*3622-3282G>T)
c.4890C>A (p.Ser1630Arg)
c.4014C>A (p.Ser1338Arg)
c.3363C>A (p.Ser1121Arg)
c.2967C>A (p.Ser989Arg)
c.2709C>A (p.Ser903Arg)
c.3987C>A (p.Ser1329Arg)
 gnomAD v4
10g.75029876C=CA1920306859DUSP29,KAT6Bc.5052C= (p.Ser1684=)
c.4503C= (p.Ser1501=)
c.4176C= (p.Ser1392=)
n.577-3282G=
c.*3622-3282G= (n.*3622-3282G=)
c.4890C= (p.Ser1630=)
c.4014C= (p.Ser1338=)
c.3363C= (p.Ser1121=)
c.2967C= (p.Ser989=)
c.2709C= (p.Ser903=)
c.3987C= (p.Ser1329=)
10g.75029876C>GCA377299812DUSP29,KAT6Bc.5052C>G (p.Ser1684Arg)
c.4503C>G (p.Ser1501Arg)
c.4176C>G (p.Ser1392Arg)
n.577-3282G>C
c.*3622-3282G>C (n.*3622-3282G>C)
c.4890C>G (p.Ser1630Arg)
c.4014C>G (p.Ser1338Arg)
c.3363C>G (p.Ser1121Arg)
c.2967C>G (p.Ser989Arg)
c.2709C>G (p.Ser903Arg)
c.3987C>G (p.Ser1329Arg)
 gnomAD v4
10g.75029876C>TCA5565134DUSP29,KAT6Bc.5052C>T (p.Ser1684=)
c.4503C>T (p.Ser1501=)
c.4176C>T (p.Ser1392=)
n.577-3282G>A
c.*3622-3282G>A (n.*3622-3282G>A)
c.4890C>T (p.Ser1630=)
c.4014C>T (p.Ser1338=)
c.3363C>T (p.Ser1121=)
c.2967C>T (p.Ser989=)
c.2709C>T (p.Ser903=)
c.3987C>T (p.Ser1329=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.75029877A>CCA377299813DUSP29,KAT6Bc.5053A>C (p.Ser1685Arg)
c.4504A>C (p.Ser1502Arg)
c.4177A>C (p.Ser1393Arg)
n.577-3283T>G
c.*3622-3283T>G (n.*3622-3283T>G)
c.4891A>C (p.Ser1631Arg)
c.4015A>C (p.Ser1339Arg)
c.3364A>C (p.Ser1122Arg)
c.2968A>C (p.Ser990Arg)
c.2710A>C (p.Ser904Arg)
c.3988A>C (p.Ser1330Arg)
10g.75029877A>GCA377299814DUSP29,KAT6Bc.5053A>G (p.Ser1685Gly)
c.4504A>G (p.Ser1502Gly)
c.4177A>G (p.Ser1393Gly)
n.577-3283T>C
c.*3622-3283T>C (n.*3622-3283T>C)
c.4891A>G (p.Ser1631Gly)
c.4015A>G (p.Ser1339Gly)
c.3364A>G (p.Ser1122Gly)
c.2968A>G (p.Ser990Gly)
c.2710A>G (p.Ser904Gly)
c.3988A>G (p.Ser1330Gly)
10g.75029877A>TCA377299815DUSP29,KAT6Bc.5053A>T (p.Ser1685Cys)
c.4504A>T (p.Ser1502Cys)
c.4177A>T (p.Ser1393Cys)
n.577-3283T>A
c.*3622-3283T>A (n.*3622-3283T>A)
c.4891A>T (p.Ser1631Cys)
c.4015A>T (p.Ser1339Cys)
c.3364A>T (p.Ser1122Cys)
c.2968A>T (p.Ser990Cys)
c.2710A>T (p.Ser904Cys)
c.3988A>T (p.Ser1330Cys)
10g.75029878G>ACA377299817DUSP29,KAT6Bc.5054G>A (p.Ser1685Asn)
c.4505G>A (p.Ser1502Asn)
c.4178G>A (p.Ser1393Asn)
n.577-3284C>T
c.*3622-3284C>T (n.*3622-3284C>T)
c.4892G>A (p.Ser1631Asn)
c.4016G>A (p.Ser1339Asn)
c.3365G>A (p.Ser1122Asn)
c.2969G>A (p.Ser990Asn)
c.2711G>A (p.Ser904Asn)
c.3989G>A (p.Ser1330Asn)
10g.75029878G>CCA377299818DUSP29,KAT6Bc.5054G>C (p.Ser1685Thr)
c.4505G>C (p.Ser1502Thr)
c.4178G>C (p.Ser1393Thr)
n.577-3284C>G
c.*3622-3284C>G (n.*3622-3284C>G)
c.4892G>C (p.Ser1631Thr)
c.4016G>C (p.Ser1339Thr)
c.3365G>C (p.Ser1122Thr)
c.2969G>C (p.Ser990Thr)
c.2711G>C (p.Ser904Thr)
c.3989G>C (p.Ser1330Thr)
10g.75029878G>TCA377299816DUSP29,KAT6Bc.5054G>T (p.Ser1685Ile)
c.4505G>T (p.Ser1502Ile)
c.4178G>T (p.Ser1393Ile)
n.577-3284C>A
c.*3622-3284C>A (n.*3622-3284C>A)
c.4892G>T (p.Ser1631Ile)
c.4016G>T (p.Ser1339Ile)
c.3365G>T (p.Ser1122Ile)
c.2969G>T (p.Ser990Ile)
c.2711G>T (p.Ser904Ile)
c.3989G>T (p.Ser1330Ile)
10g.75029879C>ACA377299819DUSP29,KAT6Bc.5055C>A (p.Ser1685Arg)
c.4506C>A (p.Ser1502Arg)
c.4179C>A (p.Ser1393Arg)
n.577-3285G>T
c.*3622-3285G>T (n.*3622-3285G>T)
c.4893C>A (p.Ser1631Arg)
c.4017C>A (p.Ser1339Arg)
c.3366C>A (p.Ser1122Arg)
c.2970C>A (p.Ser990Arg)
c.2712C>A (p.Ser904Arg)
c.3990C>A (p.Ser1330Arg)
10g.75029879C>GCA377299820DUSP29,KAT6Bc.5055C>G (p.Ser1685Arg)
c.4506C>G (p.Ser1502Arg)
c.4179C>G (p.Ser1393Arg)
n.577-3285G>C
c.*3622-3285G>C (n.*3622-3285G>C)
c.4893C>G (p.Ser1631Arg)
c.4017C>G (p.Ser1339Arg)
c.3366C>G (p.Ser1122Arg)
c.2970C>G (p.Ser990Arg)
c.2712C>G (p.Ser904Arg)
c.3990C>G (p.Ser1330Arg)
10g.75029879C>TCA470300065DUSP29,KAT6Bc.5055C>T (p.Ser1685=)
c.4506C>T (p.Ser1502=)
c.4179C>T (p.Ser1393=)
n.577-3285G>A
c.*3622-3285G>A (n.*3622-3285G>A)
c.4893C>T (p.Ser1631=)
c.4017C>T (p.Ser1339=)
c.3366C>T (p.Ser1122=)
c.2970C>T (p.Ser990=)
c.2712C>T (p.Ser904=)
c.3990C>T (p.Ser1330=)
10g.75029880T>ACA377299821DUSP29,KAT6Bc.5056T>A (p.Tyr1686Asn)
c.4507T>A (p.Tyr1503Asn)
c.4180T>A (p.Tyr1394Asn)
n.577-3286A>T
c.*3622-3286A>T (n.*3622-3286A>T)
c.4894T>A (p.Tyr1632Asn)
c.4018T>A (p.Tyr1340Asn)
c.3367T>A (p.Tyr1123Asn)
c.2971T>A (p.Tyr991Asn)
c.2713T>A (p.Tyr905Asn)
c.3991T>A (p.Tyr1331Asn)
10g.75029880T>CCA377299822DUSP29,KAT6Bc.5056T>C (p.Tyr1686His)
c.4507T>C (p.Tyr1503His)
c.4180T>C (p.Tyr1394His)
n.577-3286A>G
c.*3622-3286A>G (n.*3622-3286A>G)
c.4894T>C (p.Tyr1632His)
c.4018T>C (p.Tyr1340His)
c.3367T>C (p.Tyr1123His)
c.2971T>C (p.Tyr991His)
c.2713T>C (p.Tyr905His)
c.3991T>C (p.Tyr1331His)
10g.75029880T>GCA377299823DUSP29,KAT6Bc.5056T>G (p.Tyr1686Asp)
c.4507T>G (p.Tyr1503Asp)
c.4180T>G (p.Tyr1394Asp)
n.577-3286A>C
c.*3622-3286A>C (n.*3622-3286A>C)
c.4894T>G (p.Tyr1632Asp)
c.4018T>G (p.Tyr1340Asp)
c.3367T>G (p.Tyr1123Asp)
c.2971T>G (p.Tyr991Asp)
c.2713T>G (p.Tyr905Asp)
c.3991T>G (p.Tyr1331Asp)
10g.75029881A=CA1920306860DUSP29,KAT6Bc.5057A= (p.Tyr1686=)
c.4508A= (p.Tyr1503=)
c.4181A= (p.Tyr1394=)
n.577-3287T=
c.*3622-3287T= (n.*3622-3287T=)
c.4895A= (p.Tyr1632=)
c.4019A= (p.Tyr1340=)
c.3368A= (p.Tyr1123=)
c.2972A= (p.Tyr991=)
c.2714A= (p.Tyr905=)
c.3992A= (p.Tyr1331=)
10g.75029881A>CCA377299825DUSP29,KAT6Bc.5057A>C (p.Tyr1686Ser)
c.4508A>C (p.Tyr1503Ser)
c.4181A>C (p.Tyr1394Ser)
n.577-3287T>G
c.*3622-3287T>G (n.*3622-3287T>G)
c.4895A>C (p.Tyr1632Ser)
c.4019A>C (p.Tyr1340Ser)
c.3368A>C (p.Tyr1123Ser)
c.2972A>C (p.Tyr991Ser)
c.2714A>C (p.Tyr905Ser)
c.3992A>C (p.Tyr1331Ser)
10g.75029881A>GCA209710340DUSP29,KAT6Bc.5057A>G (p.Tyr1686Cys)
c.4508A>G (p.Tyr1503Cys)
c.4181A>G (p.Tyr1394Cys)
n.577-3287T>C
c.*3622-3287T>C (n.*3622-3287T>C)
c.4895A>G (p.Tyr1632Cys)
c.4019A>G (p.Tyr1340Cys)
c.3368A>G (p.Tyr1123Cys)
c.2972A>G (p.Tyr991Cys)
c.2714A>G (p.Tyr905Cys)
c.3992A>G (p.Tyr1331Cys)
 ClinVar dbSNP gnomAD v3 gnomAD v4
10g.75029881A>TCA377299824DUSP29,KAT6Bc.5057A>T (p.Tyr1686Phe)
c.4508A>T (p.Tyr1503Phe)
c.4181A>T (p.Tyr1394Phe)
n.577-3287T>A
c.*3622-3287T>A (n.*3622-3287T>A)
c.4895A>T (p.Tyr1632Phe)
c.4019A>T (p.Tyr1340Phe)
c.3368A>T (p.Tyr1123Phe)
c.2972A>T (p.Tyr991Phe)
c.2714A>T (p.Tyr905Phe)
c.3992A>T (p.Tyr1331Phe)
10g.75029882C>ACA377299826DUSP29,KAT6Bc.5058C>A (p.Tyr1686Ter)
c.4509C>A (p.Tyr1503Ter)
c.4182C>A (p.Tyr1394Ter)
n.577-3288G>T
c.*3622-3288G>T (n.*3622-3288G>T)
c.4896C>A (p.Tyr1632Ter)
c.4020C>A (p.Tyr1340Ter)
c.3369C>A (p.Tyr1123Ter)
c.2973C>A (p.Tyr991Ter)
c.2715C>A (p.Tyr905Ter)
c.3993C>A (p.Tyr1331Ter)
 ClinVar dbSNP
10g.75029882C=CA1920306861DUSP29,KAT6Bc.5058C= (p.Tyr1686=)
c.4509C= (p.Tyr1503=)
c.4182C= (p.Tyr1394=)
n.577-3288G=
c.*3622-3288G= (n.*3622-3288G=)
c.4896C= (p.Tyr1632=)
c.4020C= (p.Tyr1340=)
c.3369C= (p.Tyr1123=)
c.2973C= (p.Tyr991=)
c.2715C= (p.Tyr905=)
c.3993C= (p.Tyr1331=)
10g.75029882C>GCA377299827DUSP29,KAT6Bc.5058C>G (p.Tyr1686Ter)
c.4509C>G (p.Tyr1503Ter)
c.4182C>G (p.Tyr1394Ter)
n.577-3288G>C
c.*3622-3288G>C (n.*3622-3288G>C)
c.4896C>G (p.Tyr1632Ter)
c.4020C>G (p.Tyr1340Ter)
c.3369C>G (p.Tyr1123Ter)
c.2973C>G (p.Tyr991Ter)
c.2715C>G (p.Tyr905Ter)
c.3993C>G (p.Tyr1331Ter)
10g.75029882C>TCA470300071DUSP29,KAT6Bc.5058C>T (p.Tyr1686=)
c.4509C>T (p.Tyr1503=)
c.4182C>T (p.Tyr1394=)
n.577-3288G>A
c.*3622-3288G>A (n.*3622-3288G>A)
c.4896C>T (p.Tyr1632=)
c.4020C>T (p.Tyr1340=)
c.3369C>T (p.Tyr1123=)
c.2973C>T (p.Tyr991=)
c.2715C>T (p.Tyr905=)
c.3993C>T (p.Tyr1331=)
 dbSNP gnomAD v3 gnomAD v4
10g.75029882_75029883insACATATCA1920306862DUSP29,KAT6Bc.5058_5059insACATAT (p.Tyr1686_Asp1687insThrTyr)
c.4509_4510insACATAT (p.Tyr1503_Asp1504insThrTyr)
c.4182_4183insACATAT (p.Tyr1394_Asp1395insThrTyr)
n.577-3289_577-3288insATATGT
c.*3622-3289_*3622-3288insATATGT (n.*3622-3289_*3622-3288insATATGT)
c.4896_4897insACATAT (p.Tyr1632_Asp1633insThrTyr)
c.4020_4021insACATAT (p.Tyr1340_Asp1341insThrTyr)
c.3369_3370insACATAT (p.Tyr1123_Asp1124insThrTyr)
c.2973_2974insACATAT (p.Tyr991_Asp992insThrTyr)
c.2715_2716insACATAT (p.Tyr905_Asp906insThrTyr)
c.3993_3994insACATAT (p.Tyr1331_Asp1332insThrTyr)
 dbSNP
10g.75029883G>ACA377299828DUSP29,KAT6Bc.5059G>A (p.Asp1687Asn)
c.4510G>A (p.Asp1504Asn)
c.4183G>A (p.Asp1395Asn)
n.577-3289C>T
c.*3622-3289C>T (n.*3622-3289C>T)
c.4897G>A (p.Asp1633Asn)
c.4021G>A (p.Asp1341Asn)
c.3370G>A (p.Asp1124Asn)
c.2974G>A (p.Asp992Asn)
c.2716G>A (p.Asp906Asn)
c.3994G>A (p.Asp1332Asn)
10g.75029883G>CCA377299829DUSP29,KAT6Bc.5059G>C (p.Asp1687His)
c.4510G>C (p.Asp1504His)
c.4183G>C (p.Asp1395His)
n.577-3289C>G
c.*3622-3289C>G (n.*3622-3289C>G)
c.4897G>C (p.Asp1633His)
c.4021G>C (p.Asp1341His)
c.3370G>C (p.Asp1124His)
c.2974G>C (p.Asp992His)
c.2716G>C (p.Asp906His)
c.3994G>C (p.Asp1332His)
10g.75029883G>TCA377299830DUSP29,KAT6Bc.5059G>T (p.Asp1687Tyr)
c.4510G>T (p.Asp1504Tyr)
c.4183G>T (p.Asp1395Tyr)
n.577-3289C>A
c.*3622-3289C>A (n.*3622-3289C>A)
c.4897G>T (p.Asp1633Tyr)
c.4021G>T (p.Asp1341Tyr)
c.3370G>T (p.Asp1124Tyr)
c.2974G>T (p.Asp992Tyr)
c.2716G>T (p.Asp906Tyr)
c.3994G>T (p.Asp1332Tyr)
10g.75029884A=CA1920306863DUSP29,KAT6Bc.5060A= (p.Asp1687=)
c.4511A= (p.Asp1504=)
c.4184A= (p.Asp1395=)
n.577-3290T=
c.*3622-3290T= (n.*3622-3290T=)
c.4898A= (p.Asp1633=)
c.4022A= (p.Asp1341=)
c.3371A= (p.Asp1124=)
c.2975A= (p.Asp992=)
c.2717A= (p.Asp906=)
c.3995A= (p.Asp1332=)
10g.75029884A>CCA377299831DUSP29,KAT6Bc.5060A>C (p.Asp1687Ala)
c.4511A>C (p.Asp1504Ala)
c.4184A>C (p.Asp1395Ala)
n.577-3290T>G
c.*3622-3290T>G (n.*3622-3290T>G)
c.4898A>C (p.Asp1633Ala)
c.4022A>C (p.Asp1341Ala)
c.3371A>C (p.Asp1124Ala)
c.2975A>C (p.Asp992Ala)
c.2717A>C (p.Asp906Ala)
c.3995A>C (p.Asp1332Ala)
10g.75029884A>GCA377299833DUSP29,KAT6Bc.5060A>G (p.Asp1687Gly)
c.4511A>G (p.Asp1504Gly)
c.4184A>G (p.Asp1395Gly)
n.577-3290T>C
c.*3622-3290T>C (n.*3622-3290T>C)
c.4898A>G (p.Asp1633Gly)
c.4022A>G (p.Asp1341Gly)
c.3371A>G (p.Asp1124Gly)
c.2975A>G (p.Asp992Gly)
c.2717A>G (p.Asp906Gly)
c.3995A>G (p.Asp1332Gly)
10g.75029884A>TCA377299832DUSP29,KAT6Bc.5060A>T (p.Asp1687Val)
c.4511A>T (p.Asp1504Val)
c.4184A>T (p.Asp1395Val)
n.577-3290T>A
c.*3622-3290T>A (n.*3622-3290T>A)
c.4898A>T (p.Asp1633Val)
c.4022A>T (p.Asp1341Val)
c.3371A>T (p.Asp1124Val)
c.2975A>T (p.Asp992Val)
c.2717A>T (p.Asp906Val)
c.3995A>T (p.Asp1332Val)
10g.75029884_75029885insGAAAAGCTGCTGCCCA1920306864DUSP29,KAT6Bc.5060_5061insGAAAAGCTGCTGCC (p.Asp1687GlufsTer33)
c.4511_4512insGAAAAGCTGCTGCC (p.Asp1504GlufsTer33)
c.4184_4185insGAAAAGCTGCTGCC (p.Asp1395GlufsTer33)
n.577-3291_577-3290insGGCAGCAGCTTTTC
c.*3622-3291_*3622-3290insGGCAGCAGCTTTTC (n.*3622-3291_*3622-3290insGGCAGCAGCTTTTC)
c.4898_4899insGAAAAGCTGCTGCC (p.Asp1633GlufsTer33)
c.4022_4023insGAAAAGCTGCTGCC (p.Asp1341GlufsTer33)
c.3371_3372insGAAAAGCTGCTGCC (p.Asp1124GlufsTer33)
c.2975_2976insGAAAAGCTGCTGCC (p.Asp992GlufsTer33)
c.2717_2718insGAAAAGCTGCTGCC (p.Asp906GlufsTer33)
c.3995_3996insGAAAAGCTGCTGCC (p.Asp1332GlufsTer33)
 dbSNP
10g.75029885T>ACA377299834DUSP29,KAT6Bc.5061T>A (p.Asp1687Glu)
c.4512T>A (p.Asp1504Glu)
c.4185T>A (p.Asp1395Glu)
n.577-3291A>T
c.*3622-3291A>T (n.*3622-3291A>T)
c.4899T>A (p.Asp1633Glu)
c.4023T>A (p.Asp1341Glu)
c.3372T>A (p.Asp1124Glu)
c.2976T>A (p.Asp992Glu)
c.2718T>A (p.Asp906Glu)
c.3996T>A (p.Asp1332Glu)
10g.75029885T>CCA470300075DUSP29,KAT6Bc.5061T>C (p.Asp1687=)
c.4512T>C (p.Asp1504=)
c.4185T>C (p.Asp1395=)
n.577-3291A>G
c.*3622-3291A>G (n.*3622-3291A>G)
c.4899T>C (p.Asp1633=)
c.4023T>C (p.Asp1341=)
c.3372T>C (p.Asp1124=)
c.2976T>C (p.Asp992=)
c.2718T>C (p.Asp906=)
c.3996T>C (p.Asp1332=)
10g.75029885T>GCA377299835DUSP29,KAT6Bc.5061T>G (p.Asp1687Glu)
c.4512T>G (p.Asp1504Glu)
c.4185T>G (p.Asp1395Glu)
n.577-3291A>C
c.*3622-3291A>C (n.*3622-3291A>C)
c.4899T>G (p.Asp1633Glu)
c.4023T>G (p.Asp1341Glu)
c.3372T>G (p.Asp1124Glu)
c.2976T>G (p.Asp992Glu)
c.2718T>G (p.Asp906Glu)
c.3996T>G (p.Asp1332Glu)
10g.75029886T>ACA377299836DUSP29,KAT6Bc.5062T>A (p.Ser1688Thr)
c.4513T>A (p.Ser1505Thr)
c.4186T>A (p.Ser1396Thr)
n.577-3292A>T
c.*3622-3292A>T (n.*3622-3292A>T)
c.4900T>A (p.Ser1634Thr)
c.4024T>A (p.Ser1342Thr)
c.3373T>A (p.Ser1125Thr)
c.2977T>A (p.Ser993Thr)
c.2719T>A (p.Ser907Thr)
c.3997T>A (p.Ser1333Thr)
10g.75029886T>CCA377299837DUSP29,KAT6Bc.5062T>C (p.Ser1688Pro)
c.4513T>C (p.Ser1505Pro)
c.4186T>C (p.Ser1396Pro)
n.577-3292A>G
c.*3622-3292A>G (n.*3622-3292A>G)
c.4900T>C (p.Ser1634Pro)
c.4024T>C (p.Ser1342Pro)
c.3373T>C (p.Ser1125Pro)
c.2977T>C (p.Ser993Pro)
c.2719T>C (p.Ser907Pro)
c.3997T>C (p.Ser1333Pro)
10g.75029886T>GCA377299838DUSP29,KAT6Bc.5062T>G (p.Ser1688Ala)
c.4513T>G (p.Ser1505Ala)
c.4186T>G (p.Ser1396Ala)
n.577-3292A>C
c.*3622-3292A>C (n.*3622-3292A>C)
c.4900T>G (p.Ser1634Ala)
c.4024T>G (p.Ser1342Ala)
c.3373T>G (p.Ser1125Ala)
c.2977T>G (p.Ser993Ala)
c.2719T>G (p.Ser907Ala)
c.3997T>G (p.Ser1333Ala)
10g.75029886T=CA1920306865DUSP29,KAT6Bc.5062T= (p.Ser1688=)
c.4513T= (p.Ser1505=)
c.4186T= (p.Ser1396=)
n.577-3292A=
c.*3622-3292A= (n.*3622-3292A=)
c.4900T= (p.Ser1634=)
c.4024T= (p.Ser1342=)
c.3373T= (p.Ser1125=)
c.2977T= (p.Ser993=)
c.2719T= (p.Ser907=)
c.3997T= (p.Ser1333=)
10g.75029887C>ACA377299839DUSP29,KAT6Bc.5063C>A (p.Ser1688Tyr)
c.4514C>A (p.Ser1505Tyr)
c.4187C>A (p.Ser1396Tyr)
n.577-3293G>T
c.*3622-3293G>T (n.*3622-3293G>T)
c.4901C>A (p.Ser1634Tyr)
c.4025C>A (p.Ser1342Tyr)
c.3374C>A (p.Ser1125Tyr)
c.2978C>A (p.Ser993Tyr)
c.2720C>A (p.Ser907Tyr)
c.3998C>A (p.Ser1333Tyr)
10g.75029887C>GCA377299840DUSP29,KAT6Bc.5063C>G (p.Ser1688Cys)
c.4514C>G (p.Ser1505Cys)
c.4187C>G (p.Ser1396Cys)
n.577-3293G>C
c.*3622-3293G>C (n.*3622-3293G>C)
c.4901C>G (p.Ser1634Cys)
c.4025C>G (p.Ser1342Cys)
c.3374C>G (p.Ser1125Cys)
c.2978C>G (p.Ser993Cys)
c.2720C>G (p.Ser907Cys)
c.3998C>G (p.Ser1333Cys)
10g.75029887C>TCA377299841DUSP29,KAT6Bc.5063C>T (p.Ser1688Phe)
c.4514C>T (p.Ser1505Phe)
c.4187C>T (p.Ser1396Phe)
n.577-3293G>A
c.*3622-3293G>A (n.*3622-3293G>A)
c.4901C>T (p.Ser1634Phe)
c.4025C>T (p.Ser1342Phe)
c.3374C>T (p.Ser1125Phe)
c.2978C>T (p.Ser993Phe)
c.2720C>T (p.Ser907Phe)
c.3998C>T (p.Ser1333Phe)
10g.75029887_75029888insACGATCCCTTGTTGCCA1920306866DUSP29,KAT6Bc.5063_5064insACGATCCCTTGTTGC (p.Ser1688_Thr1689insArgSerLeuValAla)
c.4514_4515insACGATCCCTTGTTGC (p.Ser1505_Thr1506insArgSerLeuValAla)
c.4187_4188insACGATCCCTTGTTGC (p.Ser1396_Thr1397insArgSerLeuValAla)
n.577-3293_577-3292insCAACAAGGGATCGTG
c.*3622-3293_*3622-3292insCAACAAGGGATCGTG (n.*3622-3293_*3622-3292insCAACAAGGGATCGTG)
c.4901_4902insACGATCCCTTGTTGC (p.Ser1634_Thr1635insArgSerLeuValAla)
c.4025_4026insACGATCCCTTGTTGC (p.Ser1342_Thr1343insArgSerLeuValAla)
c.3374_3375insACGATCCCTTGTTGC (p.Ser1125_Thr1126insArgSerLeuValAla)
c.2978_2979insACGATCCCTTGTTGC (p.Ser993_Thr994insArgSerLeuValAla)
c.2720_2721insACGATCCCTTGTTGC (p.Ser907_Thr908insArgSerLeuValAla)
c.3998_3999insACGATCCCTTGTTGC (p.Ser1333_Thr1334insArgSerLeuValAla)
 dbSNP
10g.75029887_75029895delinsCTACTATGGCA1920306867DUSP29,KAT6Bc.5063_5071delinsCTACTATGG (p.Ser1688=)
c.4514_4522delinsCTACTATGG (p.Ser1505=)
c.4187_4195delinsCTACTATGG (p.Ser1396=)
n.577-3301_577-3293delinsCCATAGTAG
c.*3622-3301_*3622-3293delinsCCATAGTAG (n.*3622-3301_*3622-3293delinsCCATAGTAG)
c.4901_4909delinsCTACTATGG (p.Ser1634=)
c.4025_4033delinsCTACTATGG (p.Ser1342=)
c.3374_3382delinsCTACTATGG (p.Ser1125=)
c.2978_2986delinsCTACTATGG (p.Ser993=)
c.2720_2728delinsCTACTATGG (p.Ser907=)
c.3998_4006delinsCTACTATGG (p.Ser1333=)
10g.75029888T>ACA470300080DUSP29,KAT6Bc.5064T>A (p.Ser1688=)
c.4515T>A (p.Ser1505=)
c.4188T>A (p.Ser1396=)
n.577-3294A>T
c.*3622-3294A>T (n.*3622-3294A>T)
c.4902T>A (p.Ser1634=)
c.4026T>A (p.Ser1342=)
c.3375T>A (p.Ser1125=)
c.2979T>A (p.Ser993=)
c.2721T>A (p.Ser907=)
c.3999T>A (p.Ser1333=)
10g.75029888T>CCA470300084DUSP29,KAT6Bc.5064T>C (p.Ser1688=)
c.4515T>C (p.Ser1505=)
c.4188T>C (p.Ser1396=)
n.577-3294A>G
c.*3622-3294A>G (n.*3622-3294A>G)
c.4902T>C (p.Ser1634=)
c.4026T>C (p.Ser1342=)
c.3375T>C (p.Ser1125=)
c.2979T>C (p.Ser993=)
c.2721T>C (p.Ser907=)
c.3999T>C (p.Ser1333=)
10g.75029888T>GCA470300083DUSP29,KAT6Bc.5064T>G (p.Ser1688=)
c.4515T>G (p.Ser1505=)
c.4188T>G (p.Ser1396=)
n.577-3294A>C
c.*3622-3294A>C (n.*3622-3294A>C)
c.4902T>G (p.Ser1634=)
c.4026T>G (p.Ser1342=)
c.3375T>G (p.Ser1125=)
c.2979T>G (p.Ser993=)
c.2721T>G (p.Ser907=)
c.3999T>G (p.Ser1333=)
10g.75029888_75029895delinsCACACA143737DUSP29,KAT6Bc.5064_5071delinsCACA (p.Met1690GlufsTer24)
c.4515_4522delinsCACA (p.Met1507GlufsTer24)
c.4188_4195delinsCACA (p.Met1398GlufsTer24)
n.577-3301_577-3294delinsTGTG
c.*3622-3301_*3622-3294delinsTGTG (n.*3622-3301_*3622-3294delinsTGTG)
c.4902_4909delinsCACA (p.Met1636GlufsTer24)
c.4026_4033delinsCACA (p.Met1344GlufsTer24)
c.3375_3382delinsCACA (p.Met1127GlufsTer24)
c.2979_2986delinsCACA (p.Met995GlufsTer24)
c.2721_2728delinsCACA (p.Met909GlufsTer24)
c.3999_4006delinsCACA (p.Met1335GlufsTer24)
 ClinVar dbSNP
10g.75029889A>CCA377299842DUSP29,KAT6Bc.5065A>C (p.Thr1689Pro)
c.4516A>C (p.Thr1506Pro)
c.4189A>C (p.Thr1397Pro)
n.577-3295T>G
c.*3622-3295T>G (n.*3622-3295T>G)
c.4903A>C (p.Thr1635Pro)
c.4027A>C (p.Thr1343Pro)
c.3376A>C (p.Thr1126Pro)
c.2980A>C (p.Thr994Pro)
c.2722A>C (p.Thr908Pro)
c.4000A>C (p.Thr1334Pro)
10g.75029889A>GCA377299843DUSP29,KAT6Bc.5065A>G (p.Thr1689Ala)
c.4516A>G (p.Thr1506Ala)
c.4189A>G (p.Thr1397Ala)
n.577-3295T>C
c.*3622-3295T>C (n.*3622-3295T>C)
c.4903A>G (p.Thr1635Ala)
c.4027A>G (p.Thr1343Ala)
c.3376A>G (p.Thr1126Ala)
c.2980A>G (p.Thr994Ala)
c.2722A>G (p.Thr908Ala)
c.4000A>G (p.Thr1334Ala)
 ClinVar gnomAD v4
10g.75029889A>TCA377299844DUSP29,KAT6Bc.5065A>T (p.Thr1689Ser)
c.4516A>T (p.Thr1506Ser)
c.4189A>T (p.Thr1397Ser)
n.577-3295T>A
c.*3622-3295T>A (n.*3622-3295T>A)
c.4903A>T (p.Thr1635Ser)
c.4027A>T (p.Thr1343Ser)
c.3376A>T (p.Thr1126Ser)
c.2980A>T (p.Thr994Ser)
c.2722A>T (p.Thr908Ser)
c.4000A>T (p.Thr1334Ser)
 gnomAD v4
10g.75029890C>ACA377299846DUSP29,KAT6Bc.5066C>A (p.Thr1689Asn)
c.4517C>A (p.Thr1506Asn)
c.4190C>A (p.Thr1397Asn)
n.577-3296G>T
c.*3622-3296G>T (n.*3622-3296G>T)
c.4904C>A (p.Thr1635Asn)
c.4028C>A (p.Thr1343Asn)
c.3377C>A (p.Thr1126Asn)
c.2981C>A (p.Thr994Asn)
c.2723C>A (p.Thr908Asn)
c.4001C>A (p.Thr1334Asn)
10g.75029890C=CA1920306868DUSP29,KAT6Bc.5066C= (p.Thr1689=)
c.4517C= (p.Thr1506=)
c.4190C= (p.Thr1397=)
n.577-3296G=
c.*3622-3296G= (n.*3622-3296G=)
c.4904C= (p.Thr1635=)
c.4028C= (p.Thr1343=)
c.3377C= (p.Thr1126=)
c.2981C= (p.Thr994=)
c.2723C= (p.Thr908=)
c.4001C= (p.Thr1334=)
10g.75029890C>GCA377299847DUSP29,KAT6Bc.5066C>G (p.Thr1689Ser)
c.4517C>G (p.Thr1506Ser)
c.4190C>G (p.Thr1397Ser)
n.577-3296G>C
c.*3622-3296G>C (n.*3622-3296G>C)
c.4904C>G (p.Thr1635Ser)
c.4028C>G (p.Thr1343Ser)
c.3377C>G (p.Thr1126Ser)
c.2981C>G (p.Thr994Ser)
c.2723C>G (p.Thr908Ser)
c.4001C>G (p.Thr1334Ser)
 dbSNP gnomAD v3 gnomAD v4
10g.75029890C>TCA377299845DUSP29,KAT6Bc.5066C>T (p.Thr1689Ile)
c.4517C>T (p.Thr1506Ile)
c.4190C>T (p.Thr1397Ile)
n.577-3296G>A
c.*3622-3296G>A (n.*3622-3296G>A)
c.4904C>T (p.Thr1635Ile)
c.4028C>T (p.Thr1343Ile)
c.3377C>T (p.Thr1126Ile)
c.2981C>T (p.Thr994Ile)
c.2723C>T (p.Thr908Ile)
c.4001C>T (p.Thr1334Ile)
10g.75029891T>ACA470300088DUSP29,KAT6Bc.5067T>A (p.Thr1689=)
c.4518T>A (p.Thr1506=)
c.4191T>A (p.Thr1397=)
n.577-3297A>T
c.*3622-3297A>T (n.*3622-3297A>T)
c.4905T>A (p.Thr1635=)
c.4029T>A (p.Thr1343=)
c.3378T>A (p.Thr1126=)
c.2982T>A (p.Thr994=)
c.2724T>A (p.Thr908=)
c.4002T>A (p.Thr1334=)
10g.75029891T>CCA470300092DUSP29,KAT6Bc.5067T>C (p.Thr1689=)
c.4518T>C (p.Thr1506=)
c.4191T>C (p.Thr1397=)
n.577-3297A>G
c.*3622-3297A>G (n.*3622-3297A>G)
c.4905T>C (p.Thr1635=)
c.4029T>C (p.Thr1343=)
c.3378T>C (p.Thr1126=)
c.2982T>C (p.Thr994=)
c.2724T>C (p.Thr908=)
c.4002T>C (p.Thr1334=)
 dbSNP
10g.75029891T>GCA470300089DUSP29,KAT6Bc.5067T>G (p.Thr1689=)
c.4518T>G (p.Thr1506=)
c.4191T>G (p.Thr1397=)
n.577-3297A>C
c.*3622-3297A>C (n.*3622-3297A>C)
c.4905T>G (p.Thr1635=)
c.4029T>G (p.Thr1343=)
c.3378T>G (p.Thr1126=)
c.2982T>G (p.Thr994=)
c.2724T>G (p.Thr908=)
c.4002T>G (p.Thr1334=)
10g.75029891T=CA1920306869DUSP29,KAT6Bc.5067T= (p.Thr1689=)
c.4518T= (p.Thr1506=)
c.4191T= (p.Thr1397=)
n.577-3297A=
c.*3622-3297A= (n.*3622-3297A=)
c.4905T= (p.Thr1635=)
c.4029T= (p.Thr1343=)
c.3378T= (p.Thr1126=)
c.2982T= (p.Thr994=)
c.2724T= (p.Thr908=)
c.4002T= (p.Thr1334=)
10g.75029892A=CA1920306870DUSP29,KAT6Bc.5068A= (p.Met1690=)
c.4519A= (p.Met1507=)
c.4192A= (p.Met1398=)
n.577-3298T=
c.*3622-3298T= (n.*3622-3298T=)
c.4906A= (p.Met1636=)
c.4030A= (p.Met1344=)
c.3379A= (p.Met1127=)
c.2983A= (p.Met995=)
c.2725A= (p.Met909=)
c.4003A= (p.Met1335=)
10g.75029892A>CCA377299848DUSP29,KAT6Bc.5068A>C (p.Met1690Leu)
c.4519A>C (p.Met1507Leu)
c.4192A>C (p.Met1398Leu)
n.577-3298T>G
c.*3622-3298T>G (n.*3622-3298T>G)
c.4906A>C (p.Met1636Leu)
c.4030A>C (p.Met1344Leu)
c.3379A>C (p.Met1127Leu)
c.2983A>C (p.Met995Leu)
c.2725A>C (p.Met909Leu)
c.4003A>C (p.Met1335Leu)
10g.75029892A>GCA5565135DUSP29,KAT6Bc.5068A>G (p.Met1690Val)
c.4519A>G (p.Met1507Val)
c.4192A>G (p.Met1398Val)
n.577-3298T>C
c.*3622-3298T>C (n.*3622-3298T>C)
c.4906A>G (p.Met1636Val)
c.4030A>G (p.Met1344Val)
c.3379A>G (p.Met1127Val)
c.2983A>G (p.Met995Val)
c.2725A>G (p.Met909Val)
c.4003A>G (p.Met1335Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
10g.75029892A>TCA377299849DUSP29,KAT6Bc.5068A>T (p.Met1690Leu)
c.4519A>T (p.Met1507Leu)
c.4192A>T (p.Met1398Leu)
n.577-3298T>A
c.*3622-3298T>A (n.*3622-3298T>A)
c.4906A>T (p.Met1636Leu)
c.4030A>T (p.Met1344Leu)
c.3379A>T (p.Met1127Leu)
c.2983A>T (p.Met995Leu)
c.2725A>T (p.Met909Leu)
c.4003A>T (p.Met1335Leu)
 dbSNP gnomAD v3 gnomAD v4
10g.75029893T>ACA377299850DUSP29,KAT6Bc.5069T>A (p.Met1690Lys)
c.4520T>A (p.Met1507Lys)
c.4193T>A (p.Met1398Lys)
n.577-3299A>T
c.*3622-3299A>T (n.*3622-3299A>T)
c.4907T>A (p.Met1636Lys)
c.4031T>A (p.Met1344Lys)
c.3380T>A (p.Met1127Lys)
c.2984T>A (p.Met995Lys)
c.2726T>A (p.Met909Lys)
c.4004T>A (p.Met1335Lys)
10g.75029893T>CCA377299851DUSP29,KAT6Bc.5069T>C (p.Met1690Thr)
c.4520T>C (p.Met1507Thr)
c.4193T>C (p.Met1398Thr)
n.577-3299A>G
c.*3622-3299A>G (n.*3622-3299A>G)
c.4907T>C (p.Met1636Thr)
c.4031T>C (p.Met1344Thr)
c.3380T>C (p.Met1127Thr)
c.2984T>C (p.Met995Thr)
c.2726T>C (p.Met909Thr)
c.4004T>C (p.Met1335Thr)
 dbSNP
10g.75029893T>GCA377299852DUSP29,KAT6Bc.5069T>G (p.Met1690Arg)
c.4520T>G (p.Met1507Arg)
c.4193T>G (p.Met1398Arg)
n.577-3299A>C
c.*3622-3299A>C (n.*3622-3299A>C)
c.4907T>G (p.Met1636Arg)
c.4031T>G (p.Met1344Arg)
c.3380T>G (p.Met1127Arg)
c.2984T>G (p.Met995Arg)
c.2726T>G (p.Met909Arg)
c.4004T>G (p.Met1335Arg)
10g.75029893T=CA1920306871DUSP29,KAT6Bc.5069T= (p.Met1690=)
c.4520T= (p.Met1507=)
c.4193T= (p.Met1398=)
n.577-3299A=
c.*3622-3299A= (n.*3622-3299A=)
c.4907T= (p.Met1636=)
c.4031T= (p.Met1344=)
c.3380T= (p.Met1127=)
c.2984T= (p.Met995=)
c.2726T= (p.Met909=)
c.4004T= (p.Met1335=)
10g.75029894G>ACA5565136DUSP29,KAT6Bc.5070G>A (p.Met1690Ile)
c.4521G>A (p.Met1507Ile)
c.4194G>A (p.Met1398Ile)
n.577-3300C>T
c.*3622-3300C>T (n.*3622-3300C>T)
c.4908G>A (p.Met1636Ile)
c.4032G>A (p.Met1344Ile)
c.3381G>A (p.Met1127Ile)
c.2985G>A (p.Met995Ile)
c.2727G>A (p.Met909Ile)
c.4005G>A (p.Met1335Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.75029894G>CCA377299853DUSP29,KAT6Bc.5070G>C (p.Met1690Ile)
c.4521G>C (p.Met1507Ile)
c.4194G>C (p.Met1398Ile)
n.577-3300C>G
c.*3622-3300C>G (n.*3622-3300C>G)
c.4908G>C (p.Met1636Ile)
c.4032G>C (p.Met1344Ile)
c.3381G>C (p.Met1127Ile)
c.2985G>C (p.Met995Ile)
c.2727G>C (p.Met909Ile)
c.4005G>C (p.Met1335Ile)
10g.75029894G=CA1920306872DUSP29,KAT6Bc.5070G= (p.Met1690=)
c.4521G= (p.Met1507=)
c.4194G= (p.Met1398=)
n.577-3300C=
c.*3622-3300C= (n.*3622-3300C=)
c.4908G= (p.Met1636=)
c.4032G= (p.Met1344=)
c.3381G= (p.Met1127=)
c.2985G= (p.Met995=)
c.2727G= (p.Met909=)
c.4005G= (p.Met1335=)
10g.75029894G>TCA377299854DUSP29,KAT6Bc.5070G>T (p.Met1690Ile)
c.4521G>T (p.Met1507Ile)
c.4194G>T (p.Met1398Ile)
n.577-3300C>A
c.*3622-3300C>A (n.*3622-3300C>A)
c.4908G>T (p.Met1636Ile)
c.4032G>T (p.Met1344Ile)
c.3381G>T (p.Met1127Ile)
c.2985G>T (p.Met995Ile)
c.2727G>T (p.Met909Ile)
c.4005G>T (p.Met1335Ile)
 COSMIC
10g.75029895G>ACA5565137DUSP29,KAT6Bc.5071G>A (p.Gly1691Arg)
c.4522G>A (p.Gly1508Arg)
c.4195G>A (p.Gly1399Arg)
n.577-3301C>T
c.*3622-3301C>T (n.*3622-3301C>T)
c.4909G>A (p.Gly1637Arg)
c.4033G>A (p.Gly1345Arg)
c.3382G>A (p.Gly1128Arg)
c.2986G>A (p.Gly996Arg)
c.2728G>A (p.Gly910Arg)
c.4006G>A (p.Gly1336Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.75029895G>CCA377299855DUSP29,KAT6Bc.5071G>C (p.Gly1691Arg)
c.4522G>C (p.Gly1508Arg)
c.4195G>C (p.Gly1399Arg)
n.577-3301C>G
c.*3622-3301C>G (n.*3622-3301C>G)
c.4909G>C (p.Gly1637Arg)
c.4033G>C (p.Gly1345Arg)
c.3382G>C (p.Gly1128Arg)
c.2986G>C (p.Gly996Arg)
c.2728G>C (p.Gly910Arg)
c.4006G>C (p.Gly1336Arg)
10g.75029895G=CA1920306873DUSP29,KAT6Bc.5071G= (p.Gly1691=)
c.4522G= (p.Gly1508=)
c.4195G= (p.Gly1399=)
n.577-3301C=
c.*3622-3301C= (n.*3622-3301C=)
c.4909G= (p.Gly1637=)
c.4033G= (p.Gly1345=)
c.3382G= (p.Gly1128=)
c.2986G= (p.Gly996=)
c.2728G= (p.Gly910=)
c.4006G= (p.Gly1336=)
10g.75029895G>TCA377299856DUSP29,KAT6Bc.5071G>T (p.Gly1691Ter)
c.4522G>T (p.Gly1508Ter)
c.4195G>T (p.Gly1399Ter)
n.577-3301C>A
c.*3622-3301C>A (n.*3622-3301C>A)
c.4909G>T (p.Gly1637Ter)
c.4033G>T (p.Gly1345Ter)
c.3382G>T (p.Gly1128Ter)
c.2986G>T (p.Gly996Ter)
c.2728G>T (p.Gly910Ter)
c.4006G>T (p.Gly1336Ter)
10g.75029896G>ACA5565138DUSP29,KAT6Bc.5072G>A (p.Gly1691Glu)
c.4523G>A (p.Gly1508Glu)
c.4196G>A (p.Gly1399Glu)
n.577-3302C>T
c.*3622-3302C>T (n.*3622-3302C>T)
c.4910G>A (p.Gly1637Glu)
c.4034G>A (p.Gly1345Glu)
c.3383G>A (p.Gly1128Glu)
c.2987G>A (p.Gly996Glu)
c.2729G>A (p.Gly910Glu)
c.4007G>A (p.Gly1336Glu)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.75029896G>CCA377299858DUSP29,KAT6Bc.5072G>C (p.Gly1691Ala)
c.4523G>C (p.Gly1508Ala)
c.4196G>C (p.Gly1399Ala)
n.577-3302C>G
c.*3622-3302C>G (n.*3622-3302C>G)
c.4910G>C (p.Gly1637Ala)
c.4034G>C (p.Gly1345Ala)
c.3383G>C (p.Gly1128Ala)
c.2987G>C (p.Gly996Ala)
c.2729G>C (p.Gly910Ala)
c.4007G>C (p.Gly1336Ala)
10g.75029896G=CA1920306874DUSP29,KAT6Bc.5072G= (p.Gly1691=)
c.4523G= (p.Gly1508=)
c.4196G= (p.Gly1399=)
n.577-3302C=
c.*3622-3302C= (n.*3622-3302C=)
c.4910G= (p.Gly1637=)
c.4034G= (p.Gly1345=)
c.3383G= (p.Gly1128=)
c.2987G= (p.Gly996=)
c.2729G= (p.Gly910=)
c.4007G= (p.Gly1336=)
10g.75029896G>TCA377299857DUSP29,KAT6Bc.5072G>T (p.Gly1691Val)
c.4523G>T (p.Gly1508Val)
c.4196G>T (p.Gly1399Val)
n.577-3302C>A
c.*3622-3302C>A (n.*3622-3302C>A)
c.4910G>T (p.Gly1637Val)
c.4034G>T (p.Gly1345Val)
c.3383G>T (p.Gly1128Val)
c.2987G>T (p.Gly996Val)
c.2729G>T (p.Gly910Val)
c.4007G>T (p.Gly1336Val)
10g.75029897A=CA1920306875DUSP29,KAT6Bc.5073A= (p.Gly1691=)
c.4524A= (p.Gly1508=)
c.4197A= (p.Gly1399=)
n.577-3303T=
c.*3622-3303T= (n.*3622-3303T=)
c.4911A= (p.Gly1637=)
c.4035A= (p.Gly1345=)
c.3384A= (p.Gly1128=)
c.2988A= (p.Gly996=)
c.2730A= (p.Gly910=)
c.4008A= (p.Gly1336=)
10g.75029897A>CCA470300099DUSP29,KAT6Bc.5073A>C (p.Gly1691=)
c.4524A>C (p.Gly1508=)
c.4197A>C (p.Gly1399=)
n.577-3303T>G
c.*3622-3303T>G (n.*3622-3303T>G)
c.4911A>C (p.Gly1637=)
c.4035A>C (p.Gly1345=)
c.3384A>C (p.Gly1128=)
c.2988A>C (p.Gly996=)
c.2730A>C (p.Gly910=)
c.4008A>C (p.Gly1336=)
10g.75029897A>GCA470300104DUSP29,KAT6Bc.5073A>G (p.Gly1691=)
c.4524A>G (p.Gly1508=)
c.4197A>G (p.Gly1399=)
n.577-3303T>C
c.*3622-3303T>C (n.*3622-3303T>C)
c.4911A>G (p.Gly1637=)
c.4035A>G (p.Gly1345=)
c.3384A>G (p.Gly1128=)
c.2988A>G (p.Gly996=)
c.2730A>G (p.Gly910=)
c.4008A>G (p.Gly1336=)
10g.75029897A>TCA470300102DUSP29,KAT6Bc.5073A>T (p.Gly1691=)
c.4524A>T (p.Gly1508=)
c.4197A>T (p.Gly1399=)
n.577-3303T>A
c.*3622-3303T>A (n.*3622-3303T>A)
c.4911A>T (p.Gly1637=)
c.4035A>T (p.Gly1345=)
c.3384A>T (p.Gly1128=)
c.2988A>T (p.Gly996=)
c.2730A>T (p.Gly910=)
c.4008A>T (p.Gly1336=)
 dbSNP gnomAD v3 gnomAD v4
10g.75029898G>ACA377299859DUSP29,KAT6Bc.5074G>A (p.Gly1692Ser)
c.4525G>A (p.Gly1509Ser)
c.4198G>A (p.Gly1400Ser)
n.577-3304C>T
c.*3622-3304C>T (n.*3622-3304C>T)
c.4912G>A (p.Gly1638Ser)
c.4036G>A (p.Gly1346Ser)
c.3385G>A (p.Gly1129Ser)
c.2989G>A (p.Gly997Ser)
c.2731G>A (p.Gly911Ser)
c.4009G>A (p.Gly1337Ser)
10g.75029898G>CCA377299860DUSP29,KAT6Bc.5074G>C (p.Gly1692Arg)
c.4525G>C (p.Gly1509Arg)
c.4198G>C (p.Gly1400Arg)
n.577-3304C>G
c.*3622-3304C>G (n.*3622-3304C>G)
c.4912G>C (p.Gly1638Arg)
c.4036G>C (p.Gly1346Arg)
c.3385G>C (p.Gly1129Arg)
c.2989G>C (p.Gly997Arg)
c.2731G>C (p.Gly911Arg)
c.4009G>C (p.Gly1337Arg)
10g.75029898G>TCA377299861DUSP29,KAT6Bc.5074G>T (p.Gly1692Cys)
c.4525G>T (p.Gly1509Cys)
c.4198G>T (p.Gly1400Cys)
n.577-3304C>A
c.*3622-3304C>A (n.*3622-3304C>A)
c.4912G>T (p.Gly1638Cys)
c.4036G>T (p.Gly1346Cys)
c.3385G>T (p.Gly1129Cys)
c.2989G>T (p.Gly997Cys)
c.2731G>T (p.Gly911Cys)
c.4009G>T (p.Gly1337Cys)
10g.75029899G>ACA377299862DUSP29,KAT6Bc.5075G>A (p.Gly1692Asp)
c.4526G>A (p.Gly1509Asp)
c.4199G>A (p.Gly1400Asp)
n.577-3305C>T
c.*3622-3305C>T (n.*3622-3305C>T)
c.4913G>A (p.Gly1638Asp)
c.4037G>A (p.Gly1346Asp)
c.3386G>A (p.Gly1129Asp)
c.2990G>A (p.Gly997Asp)
c.2732G>A (p.Gly911Asp)
c.4010G>A (p.Gly1337Asp)
10g.75029899G>CCA377299863DUSP29,KAT6Bc.5075G>C (p.Gly1692Ala)
c.4526G>C (p.Gly1509Ala)
c.4199G>C (p.Gly1400Ala)
n.577-3305C>G
c.*3622-3305C>G (n.*3622-3305C>G)
c.4913G>C (p.Gly1638Ala)
c.4037G>C (p.Gly1346Ala)
c.3386G>C (p.Gly1129Ala)
c.2990G>C (p.Gly997Ala)
c.2732G>C (p.Gly911Ala)
c.4010G>C (p.Gly1337Ala)
10g.75029899G>TCA377299864DUSP29,KAT6Bc.5075G>T (p.Gly1692Val)
c.4526G>T (p.Gly1509Val)
c.4199G>T (p.Gly1400Val)
n.577-3305C>A
c.*3622-3305C>A (n.*3622-3305C>A)
c.4913G>T (p.Gly1638Val)
c.4037G>T (p.Gly1346Val)
c.3386G>T (p.Gly1129Val)
c.2990G>T (p.Gly997Val)
c.2732G>T (p.Gly911Val)
c.4010G>T (p.Gly1337Val)
10g.75029900C>ACA470300109DUSP29,KAT6Bc.5076C>A (p.Gly1692=)
c.4527C>A (p.Gly1509=)
c.4200C>A (p.Gly1400=)
n.577-3306G>T
c.*3622-3306G>T (n.*3622-3306G>T)
c.4914C>A (p.Gly1638=)
c.4038C>A (p.Gly1346=)
c.3387C>A (p.Gly1129=)
c.2991C>A (p.Gly997=)
c.2733C>A (p.Gly911=)
c.4011C>A (p.Gly1337=)
10g.75029900C>GCA470300111DUSP29,KAT6Bc.5076C>G (p.Gly1692=)
c.4527C>G (p.Gly1509=)
c.4200C>G (p.Gly1400=)
n.577-3306G>C
c.*3622-3306G>C (n.*3622-3306G>C)
c.4914C>G (p.Gly1638=)
c.4038C>G (p.Gly1346=)
c.3387C>G (p.Gly1129=)
c.2991C>G (p.Gly997=)
c.2733C>G (p.Gly911=)
c.4011C>G (p.Gly1337=)
10g.75029900C>TCA470300112DUSP29,KAT6Bc.5076C>T (p.Gly1692=)
c.4527C>T (p.Gly1509=)
c.4200C>T (p.Gly1400=)
n.577-3306G>A
c.*3622-3306G>A (n.*3622-3306G>A)
c.4914C>T (p.Gly1638=)
c.4038C>T (p.Gly1346=)
c.3387C>T (p.Gly1129=)
c.2991C>T (p.Gly997=)
c.2733C>T (p.Gly911=)
c.4011C>T (p.Gly1337=)
 ClinVar gnomAD v4
10g.75029901A=CA1920306876DUSP29,KAT6Bc.5077A= (p.Ser1693=)
c.4528A= (p.Ser1510=)
c.4201A= (p.Ser1401=)
n.577-3307T=
c.*3622-3307T= (n.*3622-3307T=)
c.4915A= (p.Ser1639=)
c.4039A= (p.Ser1347=)
c.3388A= (p.Ser1130=)
c.2992A= (p.Ser998=)
c.2734A= (p.Ser912=)
c.4012A= (p.Ser1338=)
10g.75029901A>CCA377299865DUSP29,KAT6Bc.5077A>C (p.Ser1693Arg)
c.4528A>C (p.Ser1510Arg)
c.4201A>C (p.Ser1401Arg)
n.577-3307T>G
c.*3622-3307T>G (n.*3622-3307T>G)
c.4915A>C (p.Ser1639Arg)
c.4039A>C (p.Ser1347Arg)
c.3388A>C (p.Ser1130Arg)
c.2992A>C (p.Ser998Arg)
c.2734A>C (p.Ser912Arg)
c.4012A>C (p.Ser1338Arg)
10g.75029901A>GCA377299866DUSP29,KAT6Bc.5077A>G (p.Ser1693Gly)
c.4528A>G (p.Ser1510Gly)
c.4201A>G (p.Ser1401Gly)
n.577-3307T>C
c.*3622-3307T>C (n.*3622-3307T>C)
c.4915A>G (p.Ser1639Gly)
c.4039A>G (p.Ser1347Gly)
c.3388A>G (p.Ser1130Gly)
c.2992A>G (p.Ser998Gly)
c.2734A>G (p.Ser912Gly)
c.4012A>G (p.Ser1338Gly)
 ClinVar dbSNP
10g.75029901A>TCA377299867DUSP29,KAT6Bc.5077A>T (p.Ser1693Cys)
c.4528A>T (p.Ser1510Cys)
c.4201A>T (p.Ser1401Cys)
n.577-3307T>A
c.*3622-3307T>A (n.*3622-3307T>A)
c.4915A>T (p.Ser1639Cys)
c.4039A>T (p.Ser1347Cys)
c.3388A>T (p.Ser1130Cys)
c.2992A>T (p.Ser998Cys)
c.2734A>T (p.Ser912Cys)
c.4012A>T (p.Ser1338Cys)
10g.75029902G>ACA5565139DUSP29,KAT6Bc.5078G>A (p.Ser1693Asn)
c.4529G>A (p.Ser1510Asn)
c.4202G>A (p.Ser1401Asn)
n.577-3308C>T
c.*3622-3308C>T (n.*3622-3308C>T)
c.4916G>A (p.Ser1639Asn)
c.4040G>A (p.Ser1347Asn)
c.3389G>A (p.Ser1130Asn)
c.2993G>A (p.Ser998Asn)
c.2735G>A (p.Ser912Asn)
c.4013G>A (p.Ser1338Asn)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.75029902G>CCA377299868DUSP29,KAT6Bc.5078G>C (p.Ser1693Thr)
c.4529G>C (p.Ser1510Thr)
c.4202G>C (p.Ser1401Thr)
n.577-3308C>G
c.*3622-3308C>G (n.*3622-3308C>G)
c.4916G>C (p.Ser1639Thr)
c.4040G>C (p.Ser1347Thr)
c.3389G>C (p.Ser1130Thr)
c.2993G>C (p.Ser998Thr)
c.2735G>C (p.Ser912Thr)
c.4013G>C (p.Ser1338Thr)
10g.75029902G=CA1920306877DUSP29,KAT6Bc.5078G= (p.Ser1693=)
c.4529G= (p.Ser1510=)
c.4202G= (p.Ser1401=)
n.577-3308C=
c.*3622-3308C= (n.*3622-3308C=)
c.4916G= (p.Ser1639=)
c.4040G= (p.Ser1347=)
c.3389G= (p.Ser1130=)
c.2993G= (p.Ser998=)
c.2735G= (p.Ser912=)
c.4013G= (p.Ser1338=)
10g.75029902G>TCA377299869DUSP29,KAT6Bc.5078G>T (p.Ser1693Ile)
c.4529G>T (p.Ser1510Ile)
c.4202G>T (p.Ser1401Ile)
n.577-3308C>A
c.*3622-3308C>A (n.*3622-3308C>A)
c.4916G>T (p.Ser1639Ile)
c.4040G>T (p.Ser1347Ile)
c.3389G>T (p.Ser1130Ile)
c.2993G>T (p.Ser998Ile)
c.2735G>T (p.Ser912Ile)
c.4013G>T (p.Ser1338Ile)
10g.75029903C>ACA377299870DUSP29,KAT6Bc.5079C>A (p.Ser1693Arg)
c.4530C>A (p.Ser1510Arg)
c.4203C>A (p.Ser1401Arg)
n.577-3309G>T
c.*3622-3309G>T (n.*3622-3309G>T)
c.4917C>A (p.Ser1639Arg)
c.4041C>A (p.Ser1347Arg)
c.3390C>A (p.Ser1130Arg)
c.2994C>A (p.Ser998Arg)
c.2736C>A (p.Ser912Arg)
c.4014C>A (p.Ser1338Arg)
10g.75029903C>GCA377299871DUSP29,KAT6Bc.5079C>G (p.Ser1693Arg)
c.4530C>G (p.Ser1510Arg)
c.4203C>G (p.Ser1401Arg)
n.577-3309G>C
c.*3622-3309G>C (n.*3622-3309G>C)
c.4917C>G (p.Ser1639Arg)
c.4041C>G (p.Ser1347Arg)
c.3390C>G (p.Ser1130Arg)
c.2994C>G (p.Ser998Arg)
c.2736C>G (p.Ser912Arg)
c.4014C>G (p.Ser1338Arg)
10g.75029903C>TCA470300117DUSP29,KAT6Bc.5079C>T (p.Ser1693=)
c.4530C>T (p.Ser1510=)
c.4203C>T (p.Ser1401=)
n.577-3309G>A
c.*3622-3309G>A (n.*3622-3309G>A)
c.4917C>T (p.Ser1639=)
c.4041C>T (p.Ser1347=)
c.3390C>T (p.Ser1130=)
c.2994C>T (p.Ser998=)
c.2736C>T (p.Ser912=)
c.4014C>T (p.Ser1338=)
10g.75029904A>CCA377299873DUSP29,KAT6Bc.5080A>C (p.Ile1694Leu)
c.4531A>C (p.Ile1511Leu)
c.4204A>C (p.Ile1402Leu)
n.577-3310T>G
c.*3622-3310T>G (n.*3622-3310T>G)
c.4918A>C (p.Ile1640Leu)
c.4042A>C (p.Ile1348Leu)
c.3391A>C (p.Ile1131Leu)
c.2995A>C (p.Ile999Leu)
c.2737A>C (p.Ile913Leu)
c.4015A>C (p.Ile1339Leu)
10g.75029904A>GCA377299874DUSP29,KAT6Bc.5080A>G (p.Ile1694Val)
c.4531A>G (p.Ile1511Val)
c.4204A>G (p.Ile1402Val)
n.577-3310T>C
c.*3622-3310T>C (n.*3622-3310T>C)
c.4918A>G (p.Ile1640Val)
c.4042A>G (p.Ile1348Val)
c.3391A>G (p.Ile1131Val)
c.2995A>G (p.Ile999Val)
c.2737A>G (p.Ile913Val)
c.4015A>G (p.Ile1339Val)
10g.75029904A>TCA377299872DUSP29,KAT6Bc.5080A>T (p.Ile1694Phe)
c.4531A>T (p.Ile1511Phe)
c.4204A>T (p.Ile1402Phe)
n.577-3310T>A
c.*3622-3310T>A (n.*3622-3310T>A)
c.4918A>T (p.Ile1640Phe)
c.4042A>T (p.Ile1348Phe)
c.3391A>T (p.Ile1131Phe)
c.2995A>T (p.Ile999Phe)
c.2737A>T (p.Ile913Phe)
c.4015A>T (p.Ile1339Phe)
10g.75029905T>ACA377299875DUSP29,KAT6Bc.5081T>A (p.Ile1694Asn)
c.4532T>A (p.Ile1511Asn)
c.4205T>A (p.Ile1402Asn)
n.577-3311A>T
c.*3622-3311A>T (n.*3622-3311A>T)
c.4919T>A (p.Ile1640Asn)
c.4043T>A (p.Ile1348Asn)
c.3392T>A (p.Ile1131Asn)
c.2996T>A (p.Ile999Asn)
c.2738T>A (p.Ile913Asn)
c.4016T>A (p.Ile1339Asn)
10g.75029905T>CCA377299876DUSP29,KAT6Bc.5081T>C (p.Ile1694Thr)
c.4532T>C (p.Ile1511Thr)
c.4205T>C (p.Ile1402Thr)
n.577-3311A>G
c.*3622-3311A>G (n.*3622-3311A>G)
c.4919T>C (p.Ile1640Thr)
c.4043T>C (p.Ile1348Thr)
c.3392T>C (p.Ile1131Thr)
c.2996T>C (p.Ile999Thr)
c.2738T>C (p.Ile913Thr)
c.4016T>C (p.Ile1339Thr)
10g.75029905T>GCA377299877DUSP29,KAT6Bc.5081T>G (p.Ile1694Ser)
c.4532T>G (p.Ile1511Ser)
c.4205T>G (p.Ile1402Ser)
n.577-3311A>C
c.*3622-3311A>C (n.*3622-3311A>C)
c.4919T>G (p.Ile1640Ser)
c.4043T>G (p.Ile1348Ser)
c.3392T>G (p.Ile1131Ser)
c.2996T>G (p.Ile999Ser)
c.2738T>G (p.Ile913Ser)
c.4016T>G (p.Ile1339Ser)
10g.75029906C>ACA470300130DUSP29,KAT6Bc.5082C>A (p.Ile1694=)
c.4533C>A (p.Ile1511=)
c.4206C>A (p.Ile1402=)
n.577-3312G>T
c.*3622-3312G>T (n.*3622-3312G>T)
c.4920C>A (p.Ile1640=)
c.4044C>A (p.Ile1348=)
c.3393C>A (p.Ile1131=)
c.2997C>A (p.Ile999=)
c.2739C>A (p.Ile913=)
c.4017C>A (p.Ile1339=)
10g.75029906C>GCA377299878DUSP29,KAT6Bc.5082C>G (p.Ile1694Met)
c.4533C>G (p.Ile1511Met)
c.4206C>G (p.Ile1402Met)
n.577-3312G>C
c.*3622-3312G>C (n.*3622-3312G>C)
c.4920C>G (p.Ile1640Met)
c.4044C>G (p.Ile1348Met)
c.3393C>G (p.Ile1131Met)
c.2997C>G (p.Ile999Met)
c.2739C>G (p.Ile913Met)
c.4017C>G (p.Ile1339Met)
10g.75029906C>TCA470300129DUSP29,KAT6Bc.5082C>T (p.Ile1694=)
c.4533C>T (p.Ile1511=)
c.4206C>T (p.Ile1402=)
n.577-3312G>A
c.*3622-3312G>A (n.*3622-3312G>A)
c.4920C>T (p.Ile1640=)
c.4044C>T (p.Ile1348=)
c.3393C>T (p.Ile1131=)
c.2997C>T (p.Ile999=)
c.2739C>T (p.Ile913=)
c.4017C>T (p.Ile1339=)
10g.75029907T>ACA377299879DUSP29,KAT6Bc.5083T>A (p.Cys1695Ser)
c.4534T>A (p.Cys1512Ser)
c.4207T>A (p.Cys1403Ser)
n.577-3313A>T
c.*3622-3313A>T (n.*3622-3313A>T)
c.4921T>A (p.Cys1641Ser)
c.4045T>A (p.Cys1349Ser)
c.3394T>A (p.Cys1132Ser)
c.2998T>A (p.Cys1000Ser)
c.2740T>A (p.Cys914Ser)
c.4018T>A (p.Cys1340Ser)
 ClinVar dbSNP gnomAD v2
10g.75029907T>CCA377299880DUSP29,KAT6Bc.5083T>C (p.Cys1695Arg)
c.4534T>C (p.Cys1512Arg)
c.4207T>C (p.Cys1403Arg)
n.577-3313A>G
c.*3622-3313A>G (n.*3622-3313A>G)
c.4921T>C (p.Cys1641Arg)
c.4045T>C (p.Cys1349Arg)
c.3394T>C (p.Cys1132Arg)
c.2998T>C (p.Cys1000Arg)
c.2740T>C (p.Cys914Arg)
c.4018T>C (p.Cys1340Arg)
10g.75029907T>GCA377299881DUSP29,KAT6Bc.5083T>G (p.Cys1695Gly)
c.4534T>G (p.Cys1512Gly)
c.4207T>G (p.Cys1403Gly)
n.577-3313A>C
c.*3622-3313A>C (n.*3622-3313A>C)
c.4921T>G (p.Cys1641Gly)
c.4045T>G (p.Cys1349Gly)
c.3394T>G (p.Cys1132Gly)
c.2998T>G (p.Cys1000Gly)
c.2740T>G (p.Cys914Gly)
c.4018T>G (p.Cys1340Gly)
10g.75029907T=CA1920306878DUSP29,KAT6Bc.5083T= (p.Cys1695=)
c.4534T= (p.Cys1512=)
c.4207T= (p.Cys1403=)
n.577-3313A=
c.*3622-3313A= (n.*3622-3313A=)
c.4921T= (p.Cys1641=)
c.4045T= (p.Cys1349=)
c.3394T= (p.Cys1132=)
c.2998T= (p.Cys1000=)
c.2740T= (p.Cys914=)
c.4018T= (p.Cys1340=)
10g.75029908G>ACA377299882DUSP29,KAT6Bc.5084G>A (p.Cys1695Tyr)
c.4535G>A (p.Cys1512Tyr)
c.4208G>A (p.Cys1403Tyr)
n.577-3314C>T
c.*3622-3314C>T (n.*3622-3314C>T)
c.4922G>A (p.Cys1641Tyr)
c.4046G>A (p.Cys1349Tyr)
c.3395G>A (p.Cys1132Tyr)
c.2999G>A (p.Cys1000Tyr)
c.2741G>A (p.Cys914Tyr)
c.4019G>A (p.Cys1340Tyr)
10g.75029908G>CCA377299883DUSP29,KAT6Bc.5084G>C (p.Cys1695Ser)
c.4535G>C (p.Cys1512Ser)
c.4208G>C (p.Cys1403Ser)
n.577-3314C>G
c.*3622-3314C>G (n.*3622-3314C>G)
c.4922G>C (p.Cys1641Ser)
c.4046G>C (p.Cys1349Ser)
c.3395G>C (p.Cys1132Ser)
c.2999G>C (p.Cys1000Ser)
c.2741G>C (p.Cys914Ser)
c.4019G>C (p.Cys1340Ser)
10g.75029908G>TCA377299884DUSP29,KAT6Bc.5084G>T (p.Cys1695Phe)
c.4535G>T (p.Cys1512Phe)
c.4208G>T (p.Cys1403Phe)
n.577-3314C>A
c.*3622-3314C>A (n.*3622-3314C>A)
c.4922G>T (p.Cys1641Phe)
c.4046G>T (p.Cys1349Phe)
c.3395G>T (p.Cys1132Phe)
c.2999G>T (p.Cys1000Phe)
c.2741G>T (p.Cys914Phe)
c.4019G>T (p.Cys1340Phe)
10g.75029909T>ACA377299885DUSP29,KAT6Bc.5085T>A (p.Cys1695Ter)
c.4536T>A (p.Cys1512Ter)
c.4209T>A (p.Cys1403Ter)
n.577-3315A>T
c.*3622-3315A>T (n.*3622-3315A>T)
c.4923T>A (p.Cys1641Ter)
c.4047T>A (p.Cys1349Ter)
c.3396T>A (p.Cys1132Ter)
c.3000T>A (p.Cys1000Ter)
c.2742T>A (p.Cys914Ter)
c.4020T>A (p.Cys1340Ter)
10g.75029909T>CCA470300141DUSP29,KAT6Bc.5085T>C (p.Cys1695=)
c.4536T>C (p.Cys1512=)
c.4209T>C (p.Cys1403=)
n.577-3315A>G
c.*3622-3315A>G (n.*3622-3315A>G)
c.4923T>C (p.Cys1641=)
c.4047T>C (p.Cys1349=)
c.3396T>C (p.Cys1132=)
c.3000T>C (p.Cys1000=)
c.2742T>C (p.Cys914=)
c.4020T>C (p.Cys1340=)
 gnomAD v4
10g.75029909T>GCA377299886DUSP29,KAT6Bc.5085T>G (p.Cys1695Trp)
c.4536T>G (p.Cys1512Trp)
c.4209T>G (p.Cys1403Trp)
n.577-3315A>C
c.*3622-3315A>C (n.*3622-3315A>C)
c.4923T>G (p.Cys1641Trp)
c.4047T>G (p.Cys1349Trp)
c.3396T>G (p.Cys1132Trp)
c.3000T>G (p.Cys1000Trp)
c.2742T>G (p.Cys914Trp)
c.4020T>G (p.Cys1340Trp)
10g.75029910G>ACA377299889DUSP29,KAT6Bc.5086G>A (p.Gly1696Arg)
c.4537G>A (p.Gly1513Arg)
c.4210G>A (p.Gly1404Arg)
n.577-3316C>T
c.*3622-3316C>T (n.*3622-3316C>T)
c.4924G>A (p.Gly1642Arg)
c.4048G>A (p.Gly1350Arg)
c.3397G>A (p.Gly1133Arg)
c.3001G>A (p.Gly1001Arg)
c.2743G>A (p.Gly915Arg)
c.4021G>A (p.Gly1341Arg)
10g.75029910G>CCA377299888DUSP29,KAT6Bc.5086G>C (p.Gly1696Arg)
c.4537G>C (p.Gly1513Arg)
c.4210G>C (p.Gly1404Arg)
n.577-3316C>G
c.*3622-3316C>G (n.*3622-3316C>G)
c.4924G>C (p.Gly1642Arg)
c.4048G>C (p.Gly1350Arg)
c.3397G>C (p.Gly1133Arg)
c.3001G>C (p.Gly1001Arg)
c.2743G>C (p.Gly915Arg)
c.4021G>C (p.Gly1341Arg)
10g.75029910G>TCA377299887DUSP29,KAT6Bc.5086G>T (p.Gly1696Ter)
c.4537G>T (p.Gly1513Ter)
c.4210G>T (p.Gly1404Ter)
n.577-3316C>A
c.*3622-3316C>A (n.*3622-3316C>A)
c.4924G>T (p.Gly1642Ter)
c.4048G>T (p.Gly1350Ter)
c.3397G>T (p.Gly1133Ter)
c.3001G>T (p.Gly1001Ter)
c.2743G>T (p.Gly915Ter)
c.4021G>T (p.Gly1341Ter)
10g.75029911G>ACA377299890DUSP29,KAT6Bc.5087G>A (p.Gly1696Glu)
c.4538G>A (p.Gly1513Glu)
c.4211G>A (p.Gly1404Glu)
n.577-3317C>T
c.*3622-3317C>T (n.*3622-3317C>T)
c.4925G>A (p.Gly1642Glu)
c.4049G>A (p.Gly1350Glu)
c.3398G>A (p.Gly1133Glu)
c.3002G>A (p.Gly1001Glu)
c.2744G>A (p.Gly915Glu)
c.4022G>A (p.Gly1341Glu)
10g.75029911G>CCA377299891DUSP29,KAT6Bc.5087G>C (p.Gly1696Ala)
c.4538G>C (p.Gly1513Ala)
c.4211G>C (p.Gly1404Ala)
n.577-3317C>G
c.*3622-3317C>G (n.*3622-3317C>G)
c.4925G>C (p.Gly1642Ala)
c.4049G>C (p.Gly1350Ala)
c.3398G>C (p.Gly1133Ala)
c.3002G>C (p.Gly1001Ala)
c.2744G>C (p.Gly915Ala)
c.4022G>C (p.Gly1341Ala)
10g.75029911G>TCA377299892DUSP29,KAT6Bc.5087G>T (p.Gly1696Val)
c.4538G>T (p.Gly1513Val)
c.4211G>T (p.Gly1404Val)
n.577-3317C>A
c.*3622-3317C>A (n.*3622-3317C>A)
c.4925G>T (p.Gly1642Val)
c.4049G>T (p.Gly1350Val)
c.3398G>T (p.Gly1133Val)
c.3002G>T (p.Gly1001Val)
c.2744G>T (p.Gly915Val)
c.4022G>T (p.Gly1341Val)
10g.75029912A>CCA470300365DUSP29,KAT6Bc.5088A>C (p.Gly1696=)
c.4539A>C (p.Gly1513=)
c.4212A>C (p.Gly1404=)
n.577-3318T>G
c.*3622-3318T>G (n.*3622-3318T>G)
c.4926A>C (p.Gly1642=)
c.4050A>C (p.Gly1350=)
c.3399A>C (p.Gly1133=)
c.3003A>C (p.Gly1001=)
c.2745A>C (p.Gly915=)
c.4023A>C (p.Gly1341=)
10g.75029912A>GCA470300366DUSP29,KAT6Bc.5088A>G (p.Gly1696=)
c.4539A>G (p.Gly1513=)
c.4212A>G (p.Gly1404=)
n.577-3318T>C
c.*3622-3318T>C (n.*3622-3318T>C)
c.4926A>G (p.Gly1642=)
c.4050A>G (p.Gly1350=)
c.3399A>G (p.Gly1133=)
c.3003A>G (p.Gly1001=)
c.2745A>G (p.Gly915=)
c.4023A>G (p.Gly1341=)
10g.75029912A>TCA470300367DUSP29,KAT6Bc.5088A>T (p.Gly1696=)
c.4539A>T (p.Gly1513=)
c.4212A>T (p.Gly1404=)
n.577-3318T>A
c.*3622-3318T>A (n.*3622-3318T>A)
c.4926A>T (p.Gly1642=)
c.4050A>T (p.Gly1350=)
c.3399A>T (p.Gly1133=)
c.3003A>T (p.Gly1001=)
c.2745A>T (p.Gly915=)
c.4023A>T (p.Gly1341=)
10g.75029913A>CCA377299893DUSP29,KAT6Bc.5089A>C (p.Asn1697His)
c.4540A>C (p.Asn1514His)
c.4213A>C (p.Asn1405His)
n.577-3319T>G
c.*3622-3319T>G (n.*3622-3319T>G)
c.4927A>C (p.Asn1643His)
c.4051A>C (p.Asn1351His)
c.3400A>C (p.Asn1134His)
c.3004A>C (p.Asn1002His)
c.2746A>C (p.Asn916His)
c.4024A>C (p.Asn1342His)
10g.75029913A>GCA377299894DUSP29,KAT6Bc.5089A>G (p.Asn1697Asp)
c.4540A>G (p.Asn1514Asp)
c.4213A>G (p.Asn1405Asp)
n.577-3319T>C
c.*3622-3319T>C (n.*3622-3319T>C)
c.4927A>G (p.Asn1643Asp)
c.4051A>G (p.Asn1351Asp)
c.3400A>G (p.Asn1134Asp)
c.3004A>G (p.Asn1002Asp)
c.2746A>G (p.Asn916Asp)
c.4024A>G (p.Asn1342Asp)
10g.75029913A>TCA377299895DUSP29,KAT6Bc.5089A>T (p.Asn1697Tyr)
c.4540A>T (p.Asn1514Tyr)
c.4213A>T (p.Asn1405Tyr)
n.577-3319T>A
c.*3622-3319T>A (n.*3622-3319T>A)
c.4927A>T (p.Asn1643Tyr)
c.4051A>T (p.Asn1351Tyr)
c.3400A>T (p.Asn1134Tyr)
c.3004A>T (p.Asn1002Tyr)
c.2746A>T (p.Asn916Tyr)
c.4024A>T (p.Asn1342Tyr)
10g.75029914A>CCA377299896DUSP29,KAT6Bc.5090A>C (p.Asn1697Thr)
c.4541A>C (p.Asn1514Thr)
c.4214A>C (p.Asn1405Thr)
n.577-3320T>G
c.*3622-3320T>G (n.*3622-3320T>G)
c.4928A>C (p.Asn1643Thr)
c.4052A>C (p.Asn1351Thr)
c.3401A>C (p.Asn1134Thr)
c.3005A>C (p.Asn1002Thr)
c.2747A>C (p.Asn916Thr)
c.4025A>C (p.Asn1342Thr)
10g.75029914A>GCA377299897DUSP29,KAT6Bc.5090A>G (p.Asn1697Ser)
c.4541A>G (p.Asn1514Ser)
c.4214A>G (p.Asn1405Ser)
n.577-3320T>C
c.*3622-3320T>C (n.*3622-3320T>C)
c.4928A>G (p.Asn1643Ser)
c.4052A>G (p.Asn1351Ser)
c.3401A>G (p.Asn1134Ser)
c.3005A>G (p.Asn1002Ser)
c.2747A>G (p.Asn916Ser)
c.4025A>G (p.Asn1342Ser)
10g.75029914A>TCA377299898DUSP29,KAT6Bc.5090A>T (p.Asn1697Ile)
c.4541A>T (p.Asn1514Ile)
c.4214A>T (p.Asn1405Ile)
n.577-3320T>A
c.*3622-3320T>A (n.*3622-3320T>A)
c.4928A>T (p.Asn1643Ile)
c.4052A>T (p.Asn1351Ile)
c.3401A>T (p.Asn1134Ile)
c.3005A>T (p.Asn1002Ile)
c.2747A>T (p.Asn916Ile)
c.4025A>T (p.Asn1342Ile)
10g.75029915C>ACA377299899DUSP29,KAT6Bc.5091C>A (p.Asn1697Lys)
c.4542C>A (p.Asn1514Lys)
c.4215C>A (p.Asn1405Lys)
n.577-3321G>T
c.*3622-3321G>T (n.*3622-3321G>T)
c.4929C>A (p.Asn1643Lys)
c.4053C>A (p.Asn1351Lys)
c.3402C>A (p.Asn1134Lys)
c.3006C>A (p.Asn1002Lys)
c.2748C>A (p.Asn916Lys)
c.4026C>A (p.Asn1342Lys)
10g.75029915C=CA1920306879DUSP29,KAT6Bc.5091C= (p.Asn1697=)
c.4542C= (p.Asn1514=)
c.4215C= (p.Asn1405=)
n.577-3321G=
c.*3622-3321G= (n.*3622-3321G=)
c.4929C= (p.Asn1643=)
c.4053C= (p.Asn1351=)
c.3402C= (p.Asn1134=)
c.3006C= (p.Asn1002=)
c.2748C= (p.Asn916=)
c.4026C= (p.Asn1342=)
10g.75029915C>GCA377299900DUSP29,KAT6Bc.5091C>G (p.Asn1697Lys)
c.4542C>G (p.Asn1514Lys)
c.4215C>G (p.Asn1405Lys)
n.577-3321G>C
c.*3622-3321G>C (n.*3622-3321G>C)
c.4929C>G (p.Asn1643Lys)
c.4053C>G (p.Asn1351Lys)
c.3402C>G (p.Asn1134Lys)
c.3006C>G (p.Asn1002Lys)
c.2748C>G (p.Asn916Lys)
c.4026C>G (p.Asn1342Lys)
10g.75029915C>TCA5565140DUSP29,KAT6Bc.5091C>T (p.Asn1697=)
c.4542C>T (p.Asn1514=)
c.4215C>T (p.Asn1405=)
n.577-3321G>A
c.*3622-3321G>A (n.*3622-3321G>A)
c.4929C>T (p.Asn1643=)
c.4053C>T (p.Asn1351=)
c.3402C>T (p.Asn1134=)
c.3006C>T (p.Asn1002=)
c.2748C>T (p.Asn916=)
c.4026C>T (p.Asn1342=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.75029916G>ACA209710378DUSP29,KAT6Bc.5092G>A (p.Gly1698Ser)
c.4543G>A (p.Gly1515Ser)
c.4216G>A (p.Gly1406Ser)
n.577-3322C>T
c.*3622-3322C>T (n.*3622-3322C>T)
c.4930G>A (p.Gly1644Ser)
c.4054G>A (p.Gly1352Ser)
c.3403G>A (p.Gly1135Ser)
c.3007G>A (p.Gly1003Ser)
c.2749G>A (p.Gly917Ser)
c.4027G>A (p.Gly1343Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.75029916G>CCA377299901DUSP29,KAT6Bc.5092G>C (p.Gly1698Arg)
c.4543G>C (p.Gly1515Arg)
c.4216G>C (p.Gly1406Arg)
n.577-3322C>G
c.*3622-3322C>G (n.*3622-3322C>G)
c.4930G>C (p.Gly1644Arg)
c.4054G>C (p.Gly1352Arg)
c.3403G>C (p.Gly1135Arg)
c.3007G>C (p.Gly1003Arg)
c.2749G>C (p.Gly917Arg)
c.4027G>C (p.Gly1343Arg)
10g.75029916G=CA1920306880DUSP29,KAT6Bc.5092G= (p.Gly1698=)
c.4543G= (p.Gly1515=)
c.4216G= (p.Gly1406=)
n.577-3322C=
c.*3622-3322C= (n.*3622-3322C=)
c.4930G= (p.Gly1644=)
c.4054G= (p.Gly1352=)
c.3403G= (p.Gly1135=)
c.3007G= (p.Gly1003=)
c.2749G= (p.Gly917=)
c.4027G= (p.Gly1343=)
10g.75029916G>TCA5565141DUSP29,KAT6Bc.5092G>T (p.Gly1698Cys)
c.4543G>T (p.Gly1515Cys)
c.4216G>T (p.Gly1406Cys)
n.577-3322C>A
c.*3622-3322C>A (n.*3622-3322C>A)
c.4930G>T (p.Gly1644Cys)
c.4054G>T (p.Gly1352Cys)
c.3403G>T (p.Gly1135Cys)
c.3007G>T (p.Gly1003Cys)
c.2749G>T (p.Gly917Cys)
c.4027G>T (p.Gly1343Cys)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.75029917G>ACA377299902DUSP29,KAT6Bc.5093G>A (p.Gly1698Asp)
c.4544G>A (p.Gly1515Asp)
c.4217G>A (p.Gly1406Asp)
n.577-3323C>T
c.*3622-3323C>T (n.*3622-3323C>T)
c.4931G>A (p.Gly1644Asp)
c.4055G>A (p.Gly1352Asp)
c.3404G>A (p.Gly1135Asp)
c.3008G>A (p.Gly1003Asp)
c.2750G>A (p.Gly917Asp)
c.4028G>A (p.Gly1343Asp)
 ClinVar
10g.75029917G>CCA377299904DUSP29,KAT6Bc.5093G>C (p.Gly1698Ala)
c.4544G>C (p.Gly1515Ala)
c.4217G>C (p.Gly1406Ala)
n.577-3323C>G
c.*3622-3323C>G (n.*3622-3323C>G)
c.4931G>C (p.Gly1644Ala)
c.4055G>C (p.Gly1352Ala)
c.3404G>C (p.Gly1135Ala)
c.3008G>C (p.Gly1003Ala)
c.2750G>C (p.Gly917Ala)
c.4028G>C (p.Gly1343Ala)
10g.75029917G>TCA377299903DUSP29,KAT6Bc.5093G>T (p.Gly1698Val)
c.4544G>T (p.Gly1515Val)
c.4217G>T (p.Gly1406Val)
n.577-3323C>A
c.*3622-3323C>A (n.*3622-3323C>A)
c.4931G>T (p.Gly1644Val)
c.4055G>T (p.Gly1352Val)
c.3404G>T (p.Gly1135Val)
c.3008G>T (p.Gly1003Val)
c.2750G>T (p.Gly917Val)
c.4028G>T (p.Gly1343Val)
10g.75029918C>ACA470300381DUSP29,KAT6Bc.5094C>A (p.Gly1698=)
c.4545C>A (p.Gly1515=)
c.4218C>A (p.Gly1406=)
n.577-3324G>T
c.*3622-3324G>T (n.*3622-3324G>T)
c.4932C>A (p.Gly1644=)
c.4056C>A (p.Gly1352=)
c.3405C>A (p.Gly1135=)
c.3009C>A (p.Gly1003=)
c.2751C>A (p.Gly917=)
c.4029C>A (p.Gly1343=)
10g.75029918C=CA1920306881DUSP29,KAT6Bc.5094C= (p.Gly1698=)
c.4545C= (p.Gly1515=)
c.4218C= (p.Gly1406=)
n.577-3324G=
c.*3622-3324G= (n.*3622-3324G=)
c.4932C= (p.Gly1644=)
c.4056C= (p.Gly1352=)
c.3405C= (p.Gly1135=)
c.3009C= (p.Gly1003=)
c.2751C= (p.Gly917=)
c.4029C= (p.Gly1343=)
10g.75029918C>GCA470300382DUSP29,KAT6Bc.5094C>G (p.Gly1698=)
c.4545C>G (p.Gly1515=)
c.4218C>G (p.Gly1406=)
n.577-3324G>C
c.*3622-3324G>C (n.*3622-3324G>C)
c.4932C>G (p.Gly1644=)
c.4056C>G (p.Gly1352=)
c.3405C>G (p.Gly1135=)
c.3009C>G (p.Gly1003=)
c.2751C>G (p.Gly917=)
c.4029C>G (p.Gly1343=)
10g.75029918C>TCA470300385DUSP29,KAT6Bc.5094C>T (p.Gly1698=)
c.4545C>T (p.Gly1515=)
c.4218C>T (p.Gly1406=)
n.577-3324G>A
c.*3622-3324G>A (n.*3622-3324G>A)
c.4932C>T (p.Gly1644=)
c.4056C>T (p.Gly1352=)
c.3405C>T (p.Gly1135=)
c.3009C>T (p.Gly1003=)
c.2751C>T (p.Gly917=)
c.4029C>T (p.Gly1343=)
 dbSNP gnomAD v4
10g.75029919T>ACA377299905DUSP29,KAT6Bc.5095T>A (p.Ser1699Thr)
c.4546T>A (p.Ser1516Thr)
c.4219T>A (p.Ser1407Thr)
n.577-3325A>T
c.*3622-3325A>T (n.*3622-3325A>T)
c.4933T>A (p.Ser1645Thr)
c.4057T>A (p.Ser1353Thr)
c.3406T>A (p.Ser1136Thr)
c.3010T>A (p.Ser1004Thr)
c.2752T>A (p.Ser918Thr)
c.4030T>A (p.Ser1344Thr)
10g.75029919T>CCA377299907DUSP29,KAT6Bc.5095T>C (p.Ser1699Pro)
c.4546T>C (p.Ser1516Pro)
c.4219T>C (p.Ser1407Pro)
n.577-3325A>G
c.*3622-3325A>G (n.*3622-3325A>G)
c.4933T>C (p.Ser1645Pro)
c.4057T>C (p.Ser1353Pro)
c.3406T>C (p.Ser1136Pro)
c.3010T>C (p.Ser1004Pro)
c.2752T>C (p.Ser918Pro)
c.4030T>C (p.Ser1344Pro)
 gnomAD v4
10g.75029919T>GCA377299906DUSP29,KAT6Bc.5095T>G (p.Ser1699Ala)
c.4546T>G (p.Ser1516Ala)
c.4219T>G (p.Ser1407Ala)
n.577-3325A>C
c.*3622-3325A>C (n.*3622-3325A>C)
c.4933T>G (p.Ser1645Ala)
c.4057T>G (p.Ser1353Ala)
c.3406T>G (p.Ser1136Ala)
c.3010T>G (p.Ser1004Ala)
c.2752T>G (p.Ser918Ala)
c.4030T>G (p.Ser1344Ala)
 ClinVar
10g.75029920C>ACA377299908DUSP29,KAT6Bc.5096C>A (p.Ser1699Tyr)
c.4547C>A (p.Ser1516Tyr)
c.4220C>A (p.Ser1407Tyr)
n.577-3326G>T
c.*3622-3326G>T (n.*3622-3326G>T)
c.4934C>A (p.Ser1645Tyr)
c.4058C>A (p.Ser1353Tyr)
c.3407C>A (p.Ser1136Tyr)
c.3011C>A (p.Ser1004Tyr)
c.2753C>A (p.Ser918Tyr)
c.4031C>A (p.Ser1344Tyr)
10g.75029920C>GCA377299909DUSP29,KAT6Bc.5096C>G (p.Ser1699Cys)
c.4547C>G (p.Ser1516Cys)
c.4220C>G (p.Ser1407Cys)
n.577-3326G>C
c.*3622-3326G>C (n.*3622-3326G>C)
c.4934C>G (p.Ser1645Cys)
c.4058C>G (p.Ser1353Cys)
c.3407C>G (p.Ser1136Cys)
c.3011C>G (p.Ser1004Cys)
c.2753C>G (p.Ser918Cys)
c.4031C>G (p.Ser1344Cys)
10g.75029920C>TCA377299910DUSP29,KAT6Bc.5096C>T (p.Ser1699Phe)
c.4547C>T (p.Ser1516Phe)
c.4220C>T (p.Ser1407Phe)
n.577-3326G>A
c.*3622-3326G>A (n.*3622-3326G>A)
c.4934C>T (p.Ser1645Phe)
c.4058C>T (p.Ser1353Phe)
c.3407C>T (p.Ser1136Phe)
c.3011C>T (p.Ser1004Phe)
c.2753C>T (p.Ser918Phe)
c.4031C>T (p.Ser1344Phe)
10g.75029921T>ACA470300392DUSP29,KAT6Bc.5097T>A (p.Ser1699=)
c.4548T>A (p.Ser1516=)
c.4221T>A (p.Ser1407=)
n.577-3327A>T
c.*3622-3327A>T (n.*3622-3327A>T)
c.4935T>A (p.Ser1645=)
c.4059T>A (p.Ser1353=)
c.3408T>A (p.Ser1136=)
c.3012T>A (p.Ser1004=)
c.2754T>A (p.Ser918=)
c.4032T>A (p.Ser1344=)
10g.75029921T>CCA470300393DUSP29,KAT6Bc.5097T>C (p.Ser1699=)
c.4548T>C (p.Ser1516=)
c.4221T>C (p.Ser1407=)
n.577-3327A>G
c.*3622-3327A>G (n.*3622-3327A>G)
c.4935T>C (p.Ser1645=)
c.4059T>C (p.Ser1353=)
c.3408T>C (p.Ser1136=)
c.3012T>C (p.Ser1004=)
c.2754T>C (p.Ser918=)
c.4032T>C (p.Ser1344=)
10g.75029921T>GCA470300395DUSP29,KAT6Bc.5097T>G (p.Ser1699=)
c.4548T>G (p.Ser1516=)
c.4221T>G (p.Ser1407=)
n.577-3327A>C
c.*3622-3327A>C (n.*3622-3327A>C)
c.4935T>G (p.Ser1645=)
c.4059T>G (p.Ser1353=)
c.3408T>G (p.Ser1136=)
c.3012T>G (p.Ser1004=)
c.2754T>G (p.Ser918=)
c.4032T>G (p.Ser1344=)
10g.75029922T>ACA377299911DUSP29,KAT6Bc.5098T>A (p.Ser1700Thr)
c.4549T>A (p.Ser1517Thr)
c.4222T>A (p.Ser1408Thr)
n.577-3328A>T
c.*3622-3328A>T (n.*3622-3328A>T)
c.4936T>A (p.Ser1646Thr)
c.4060T>A (p.Ser1354Thr)
c.3409T>A (p.Ser1137Thr)
c.3013T>A (p.Ser1005Thr)
c.2755T>A (p.Ser919Thr)
c.4033T>A (p.Ser1345Thr)
10g.75029922T>CCA377299912DUSP29,KAT6Bc.5098T>C (p.Ser1700Pro)
c.4549T>C (p.Ser1517Pro)
c.4222T>C (p.Ser1408Pro)
n.577-3328A>G
c.*3622-3328A>G (n.*3622-3328A>G)
c.4936T>C (p.Ser1646Pro)
c.4060T>C (p.Ser1354Pro)
c.3409T>C (p.Ser1137Pro)
c.3013T>C (p.Ser1005Pro)
c.2755T>C (p.Ser919Pro)
c.4033T>C (p.Ser1345Pro)
10g.75029922T>GCA377299913DUSP29,KAT6Bc.5098T>G (p.Ser1700Ala)
c.4549T>G (p.Ser1517Ala)
c.4222T>G (p.Ser1408Ala)
n.577-3328A>C
c.*3622-3328A>C (n.*3622-3328A>C)
c.4936T>G (p.Ser1646Ala)
c.4060T>G (p.Ser1354Ala)
c.3409T>G (p.Ser1137Ala)
c.3013T>G (p.Ser1005Ala)
c.2755T>G (p.Ser919Ala)
c.4033T>G (p.Ser1345Ala)
10g.75029923C>ACA377299914DUSP29,KAT6Bc.5099C>A (p.Ser1700Ter)
c.4550C>A (p.Ser1517Ter)
c.4223C>A (p.Ser1408Ter)
n.577-3329G>T
c.*3622-3329G>T (n.*3622-3329G>T)
c.4937C>A (p.Ser1646Ter)
c.4061C>A (p.Ser1354Ter)
c.3410C>A (p.Ser1137Ter)
c.3014C>A (p.Ser1005Ter)
c.2756C>A (p.Ser919Ter)
c.4034C>A (p.Ser1345Ter)
10g.75029923C>GCA377299915DUSP29,KAT6Bc.5099C>G (p.Ser1700Ter)
c.4550C>G (p.Ser1517Ter)
c.4223C>G (p.Ser1408Ter)
n.577-3329G>C
c.*3622-3329G>C (n.*3622-3329G>C)
c.4937C>G (p.Ser1646Ter)
c.4061C>G (p.Ser1354Ter)
c.3410C>G (p.Ser1137Ter)
c.3014C>G (p.Ser1005Ter)
c.2756C>G (p.Ser919Ter)
c.4034C>G (p.Ser1345Ter)
10g.75029923C>TCA377299916DUSP29,KAT6Bc.5099C>T (p.Ser1700Leu)
c.4550C>T (p.Ser1517Leu)
c.4223C>T (p.Ser1408Leu)
n.577-3329G>A
c.*3622-3329G>A (n.*3622-3329G>A)
c.4937C>T (p.Ser1646Leu)
c.4061C>T (p.Ser1354Leu)
c.3410C>T (p.Ser1137Leu)
c.3014C>T (p.Ser1005Leu)
c.2756C>T (p.Ser919Leu)
c.4034C>T (p.Ser1345Leu)
10g.75029924A>CCA470300400DUSP29,KAT6Bc.5100A>C (p.Ser1700=)
c.4551A>C (p.Ser1517=)
c.4224A>C (p.Ser1408=)
n.577-3330T>G
c.*3622-3330T>G (n.*3622-3330T>G)
c.4938A>C (p.Ser1646=)
c.4062A>C (p.Ser1354=)
c.3411A>C (p.Ser1137=)
c.3015A>C (p.Ser1005=)
c.2757A>C (p.Ser919=)
c.4035A>C (p.Ser1345=)
10g.75029924A>GCA470300403DUSP29,KAT6Bc.5100A>G (p.Ser1700=)
c.4551A>G (p.Ser1517=)
c.4224A>G (p.Ser1408=)
n.577-3330T>C
c.*3622-3330T>C (n.*3622-3330T>C)
c.4938A>G (p.Ser1646=)
c.4062A>G (p.Ser1354=)
c.3411A>G (p.Ser1137=)
c.3015A>G (p.Ser1005=)
c.2757A>G (p.Ser919=)
c.4035A>G (p.Ser1345=)
10g.75029924A>TCA470300405DUSP29,KAT6Bc.5100A>T (p.Ser1700=)
c.4551A>T (p.Ser1517=)
c.4224A>T (p.Ser1408=)
n.577-3330T>A
c.*3622-3330T>A (n.*3622-3330T>A)
c.4938A>T (p.Ser1646=)
c.4062A>T (p.Ser1354=)
c.3411A>T (p.Ser1137=)
c.3015A>T (p.Ser1005=)
c.2757A>T (p.Ser919=)
c.4035A>T (p.Ser1345=)
10g.75029925C>ACA377299917DUSP29,KAT6Bc.5101C>A (p.Gln1701Lys)
c.4552C>A (p.Gln1518Lys)
c.4225C>A (p.Gln1409Lys)
n.577-3331G>T
c.*3622-3331G>T (n.*3622-3331G>T)
c.4939C>A (p.Gln1647Lys)
c.4063C>A (p.Gln1355Lys)
c.3412C>A (p.Gln1138Lys)
c.3016C>A (p.Gln1006Lys)
c.2758C>A (p.Gln920Lys)
c.4036C>A (p.Gln1346Lys)
10g.75029925C=CA1920306882DUSP29,KAT6Bc.5101C= (p.Gln1701=)
c.4552C= (p.Gln1518=)
c.4225C= (p.Gln1409=)
n.577-3331G=
c.*3622-3331G= (n.*3622-3331G=)
c.4939C= (p.Gln1647=)
c.4063C= (p.Gln1355=)
c.3412C= (p.Gln1138=)
c.3016C= (p.Gln1006=)
c.2758C= (p.Gln920=)
c.4036C= (p.Gln1346=)
10g.75029925C>GCA377299918DUSP29,KAT6Bc.5101C>G (p.Gln1701Glu)
c.4552C>G (p.Gln1518Glu)
c.4225C>G (p.Gln1409Glu)
n.577-3331G>C
c.*3622-3331G>C (n.*3622-3331G>C)
c.4939C>G (p.Gln1647Glu)
c.4063C>G (p.Gln1355Glu)
c.3412C>G (p.Gln1138Glu)
c.3016C>G (p.Gln1006Glu)
c.2758C>G (p.Gln920Glu)
c.4036C>G (p.Gln1346Glu)
10g.75029925C>TCA10603066DUSP29,KAT6Bc.5101C>T (p.Gln1701Ter)
c.4552C>T (p.Gln1518Ter)
c.4225C>T (p.Gln1409Ter)
n.577-3331G>A
c.*3622-3331G>A (n.*3622-3331G>A)
c.4939C>T (p.Gln1647Ter)
c.4063C>T (p.Gln1355Ter)
c.3412C>T (p.Gln1138Ter)
c.3016C>T (p.Gln1006Ter)
c.2758C>T (p.Gln920Ter)
c.4036C>T (p.Gln1346Ter)
 ClinVar dbSNP
10g.75029926A>CCA377299921DUSP29,KAT6Bc.5102A>C (p.Gln1701Pro)
c.4553A>C (p.Gln1518Pro)
c.4226A>C (p.Gln1409Pro)
n.577-3332T>G
c.*3622-3332T>G (n.*3622-3332T>G)
c.4940A>C (p.Gln1647Pro)
c.4064A>C (p.Gln1355Pro)
c.3413A>C (p.Gln1138Pro)
c.3017A>C (p.Gln1006Pro)
c.2759A>C (p.Gln920Pro)
c.4037A>C (p.Gln1346Pro)
10g.75029926A>GCA377299920DUSP29,KAT6Bc.5102A>G (p.Gln1701Arg)
c.4553A>G (p.Gln1518Arg)
c.4226A>G (p.Gln1409Arg)
n.577-3332T>C
c.*3622-3332T>C (n.*3622-3332T>C)
c.4940A>G (p.Gln1647Arg)
c.4064A>G (p.Gln1355Arg)
c.3413A>G (p.Gln1138Arg)
c.3017A>G (p.Gln1006Arg)
c.2759A>G (p.Gln920Arg)
c.4037A>G (p.Gln1346Arg)
 gnomAD v4
10g.75029926A>TCA377299919DUSP29,KAT6Bc.5102A>T (p.Gln1701Leu)
c.4553A>T (p.Gln1518Leu)
c.4226A>T (p.Gln1409Leu)
n.577-3332T>A
c.*3622-3332T>A (n.*3622-3332T>A)
c.4940A>T (p.Gln1647Leu)
c.4064A>T (p.Gln1355Leu)
c.3413A>T (p.Gln1138Leu)
c.3017A>T (p.Gln1006Leu)
c.2759A>T (p.Gln920Leu)
c.4037A>T (p.Gln1346Leu)
10g.75029927G>ACA470300413DUSP29,KAT6Bc.5103G>A (p.Gln1701=)
c.4554G>A (p.Gln1518=)
c.4227G>A (p.Gln1409=)
n.577-3333C>T
c.*3622-3333C>T (n.*3622-3333C>T)
c.4941G>A (p.Gln1647=)
c.4065G>A (p.Gln1355=)
c.3414G>A (p.Gln1138=)
c.3018G>A (p.Gln1006=)
c.2760G>A (p.Gln920=)
c.4038G>A (p.Gln1346=)
 gnomAD v4
10g.75029927G>CCA377299922DUSP29,KAT6Bc.5103G>C (p.Gln1701His)
c.4554G>C (p.Gln1518His)
c.4227G>C (p.Gln1409His)
n.577-3333C>G
c.*3622-3333C>G (n.*3622-3333C>G)
c.4941G>C (p.Gln1647His)
c.4065G>C (p.Gln1355His)
c.3414G>C (p.Gln1138His)
c.3018G>C (p.Gln1006His)
c.2760G>C (p.Gln920His)
c.4038G>C (p.Gln1346His)
10g.75029927G>TCA377299923DUSP29,KAT6Bc.5103G>T (p.Gln1701His)
c.4554G>T (p.Gln1518His)
c.4227G>T (p.Gln1409His)
n.577-3333C>A
c.*3622-3333C>A (n.*3622-3333C>A)
c.4941G>T (p.Gln1647His)
c.4065G>T (p.Gln1355His)
c.3414G>T (p.Gln1138His)
c.3018G>T (p.Gln1006His)
c.2760G>T (p.Gln920His)
c.4038G>T (p.Gln1346His)
10g.75029928A>CCA377299924DUSP29,KAT6Bc.5104A>C (p.Asn1702His)
c.4555A>C (p.Asn1519His)
c.4228A>C (p.Asn1410His)
n.577-3334T>G
c.*3622-3334T>G (n.*3622-3334T>G)
c.4942A>C (p.Asn1648His)
c.4066A>C (p.Asn1356His)
c.3415A>C (p.Asn1139His)
c.3019A>C (p.Asn1007His)
c.2761A>C (p.Asn921His)
c.4039A>C (p.Asn1347His)
10g.75029928A>GCA377299925DUSP29,KAT6Bc.5104A>G (p.Asn1702Asp)
c.4555A>G (p.Asn1519Asp)
c.4228A>G (p.Asn1410Asp)
n.577-3334T>C
c.*3622-3334T>C (n.*3622-3334T>C)
c.4942A>G (p.Asn1648Asp)
c.4066A>G (p.Asn1356Asp)
c.3415A>G (p.Asn1139Asp)
c.3019A>G (p.Asn1007Asp)
c.2761A>G (p.Asn921Asp)
c.4039A>G (p.Asn1347Asp)
10g.75029928A>TCA377299926DUSP29,KAT6Bc.5104A>T (p.Asn1702Tyr)
c.4555A>T (p.Asn1519Tyr)
c.4228A>T (p.Asn1410Tyr)
n.577-3334T>A
c.*3622-3334T>A (n.*3622-3334T>A)
c.4942A>T (p.Asn1648Tyr)
c.4066A>T (p.Asn1356Tyr)
c.3415A>T (p.Asn1139Tyr)
c.3019A>T (p.Asn1007Tyr)
c.2761A>T (p.Asn921Tyr)
c.4039A>T (p.Asn1347Tyr)
10g.75029929A>CCA377299927DUSP29,KAT6Bc.5105A>C (p.Asn1702Thr)
c.4556A>C (p.Asn1519Thr)
c.4229A>C (p.Asn1410Thr)
n.577-3335T>G
c.*3622-3335T>G (n.*3622-3335T>G)
c.4943A>C (p.Asn1648Thr)
c.4067A>C (p.Asn1356Thr)
c.3416A>C (p.Asn1139Thr)
c.3020A>C (p.Asn1007Thr)
c.2762A>C (p.Asn921Thr)
c.4040A>C (p.Asn1347Thr)
10g.75029929A>GCA377299928DUSP29,KAT6Bc.5105A>G (p.Asn1702Ser)
c.4556A>G (p.Asn1519Ser)
c.4229A>G (p.Asn1410Ser)
n.577-3335T>C
c.*3622-3335T>C (n.*3622-3335T>C)
c.4943A>G (p.Asn1648Ser)
c.4067A>G (p.Asn1356Ser)
c.3416A>G (p.Asn1139Ser)
c.3020A>G (p.Asn1007Ser)
c.2762A>G (p.Asn921Ser)
c.4040A>G (p.Asn1347Ser)
10g.75029929A>TCA377299929DUSP29,KAT6Bc.5105A>T (p.Asn1702Ile)
c.4556A>T (p.Asn1519Ile)
c.4229A>T (p.Asn1410Ile)
n.577-3335T>A
c.*3622-3335T>A (n.*3622-3335T>A)
c.4943A>T (p.Asn1648Ile)
c.4067A>T (p.Asn1356Ile)
c.3416A>T (p.Asn1139Ile)
c.3020A>T (p.Asn1007Ile)
c.2762A>T (p.Asn921Ile)
c.4040A>T (p.Asn1347Ile)
10g.75029930C>ACA377299930DUSP29,KAT6Bc.5106C>A (p.Asn1702Lys)
c.4557C>A (p.Asn1519Lys)
c.4230C>A (p.Asn1410Lys)
n.577-3336G>T
c.*3622-3336G>T (n.*3622-3336G>T)
c.4944C>A (p.Asn1648Lys)
c.4068C>A (p.Asn1356Lys)
c.3417C>A (p.Asn1139Lys)
c.3021C>A (p.Asn1007Lys)
c.2763C>A (p.Asn921Lys)
c.4041C>A (p.Asn1347Lys)
10g.75029930C>GCA377299931DUSP29,KAT6Bc.5106C>G (p.Asn1702Lys)
c.4557C>G (p.Asn1519Lys)
c.4230C>G (p.Asn1410Lys)
n.577-3336G>C
c.*3622-3336G>C (n.*3622-3336G>C)
c.4944C>G (p.Asn1648Lys)
c.4068C>G (p.Asn1356Lys)
c.3417C>G (p.Asn1139Lys)
c.3021C>G (p.Asn1007Lys)
c.2763C>G (p.Asn921Lys)
c.4041C>G (p.Asn1347Lys)
10g.75029930C>TCA470300426DUSP29,KAT6Bc.5106C>T (p.Asn1702=)
c.4557C>T (p.Asn1519=)
c.4230C>T (p.Asn1410=)
n.577-3336G>A
c.*3622-3336G>A (n.*3622-3336G>A)
c.4944C>T (p.Asn1648=)
c.4068C>T (p.Asn1356=)
c.3417C>T (p.Asn1139=)
c.3021C>T (p.Asn1007=)
c.2763C>T (p.Asn921=)
c.4041C>T (p.Asn1347=)
10g.75029931A>CCA377299932DUSP29,KAT6Bc.5107A>C (p.Ser1703Arg)
c.4558A>C (p.Ser1520Arg)
c.4231A>C (p.Ser1411Arg)
n.577-3337T>G
c.*3622-3337T>G (n.*3622-3337T>G)
c.4945A>C (p.Ser1649Arg)
c.4069A>C (p.Ser1357Arg)
c.3418A>C (p.Ser1140Arg)
c.3022A>C (p.Ser1008Arg)
c.2764A>C (p.Ser922Arg)
c.4042A>C (p.Ser1348Arg)
10g.75029931A>GCA377299933DUSP29,KAT6Bc.5107A>G (p.Ser1703Gly)
c.4558A>G (p.Ser1520Gly)
c.4231A>G (p.Ser1411Gly)
n.577-3337T>C
c.*3622-3337T>C (n.*3622-3337T>C)
c.4945A>G (p.Ser1649Gly)
c.4069A>G (p.Ser1357Gly)
c.3418A>G (p.Ser1140Gly)
c.3022A>G (p.Ser1008Gly)
c.2764A>G (p.Ser922Gly)
c.4042A>G (p.Ser1348Gly)
10g.75029931A>TCA377299934DUSP29,KAT6Bc.5107A>T (p.Ser1703Cys)
c.4558A>T (p.Ser1520Cys)
c.4231A>T (p.Ser1411Cys)
n.577-3337T>A
c.*3622-3337T>A (n.*3622-3337T>A)
c.4945A>T (p.Ser1649Cys)
c.4069A>T (p.Ser1357Cys)
c.3418A>T (p.Ser1140Cys)
c.3022A>T (p.Ser1008Cys)
c.2764A>T (p.Ser922Cys)
c.4042A>T (p.Ser1348Cys)
10g.75029932G>ACA377299936DUSP29,KAT6Bc.5108G>A (p.Ser1703Asn)
c.4559G>A (p.Ser1520Asn)
c.4232G>A (p.Ser1411Asn)
n.577-3338C>T
c.*3622-3338C>T (n.*3622-3338C>T)
c.4946G>A (p.Ser1649Asn)
c.4070G>A (p.Ser1357Asn)
c.3419G>A (p.Ser1140Asn)
c.3023G>A (p.Ser1008Asn)
c.2765G>A (p.Ser922Asn)
c.4043G>A (p.Ser1348Asn)
10g.75029932G>CCA377299937DUSP29,KAT6Bc.5108G>C (p.Ser1703Thr)
c.4559G>C (p.Ser1520Thr)
c.4232G>C (p.Ser1411Thr)
n.577-3338C>G
c.*3622-3338C>G (n.*3622-3338C>G)
c.4946G>C (p.Ser1649Thr)
c.4070G>C (p.Ser1357Thr)
c.3419G>C (p.Ser1140Thr)
c.3023G>C (p.Ser1008Thr)
c.2765G>C (p.Ser922Thr)
c.4043G>C (p.Ser1348Thr)
10g.75029932G>TCA377299935DUSP29,KAT6Bc.5108G>T (p.Ser1703Ile)
c.4559G>T (p.Ser1520Ile)
c.4232G>T (p.Ser1411Ile)
n.577-3338C>A
c.*3622-3338C>A (n.*3622-3338C>A)
c.4946G>T (p.Ser1649Ile)
c.4070G>T (p.Ser1357Ile)
c.3419G>T (p.Ser1140Ile)
c.3023G>T (p.Ser1008Ile)
c.2765G>T (p.Ser922Ile)
c.4043G>T (p.Ser1348Ile)
10g.75029933C>ACA377299938DUSP29,KAT6Bc.5109C>A (p.Ser1703Arg)
c.4560C>A (p.Ser1520Arg)
c.4233C>A (p.Ser1411Arg)
n.577-3339G>T
c.*3622-3339G>T (n.*3622-3339G>T)
c.4947C>A (p.Ser1649Arg)
c.4071C>A (p.Ser1357Arg)
c.3420C>A (p.Ser1140Arg)
c.3024C>A (p.Ser1008Arg)
c.2766C>A (p.Ser922Arg)
c.4044C>A (p.Ser1348Arg)
10g.75029933C>GCA377299939DUSP29,KAT6Bc.5109C>G (p.Ser1703Arg)
c.4560C>G (p.Ser1520Arg)
c.4233C>G (p.Ser1411Arg)
n.577-3339G>C
c.*3622-3339G>C (n.*3622-3339G>C)
c.4947C>G (p.Ser1649Arg)
c.4071C>G (p.Ser1357Arg)
c.3420C>G (p.Ser1140Arg)
c.3024C>G (p.Ser1008Arg)
c.2766C>G (p.Ser922Arg)
c.4044C>G (p.Ser1348Arg)
10g.75029933C>TCA470300465DUSP29,KAT6Bc.5109C>T (p.Ser1703=)
c.4560C>T (p.Ser1520=)
c.4233C>T (p.Ser1411=)
n.577-3339G>A
c.*3622-3339G>A (n.*3622-3339G>A)
c.4947C>T (p.Ser1649=)
c.4071C>T (p.Ser1357=)
c.3420C>T (p.Ser1140=)
c.3024C>T (p.Ser1008=)
c.2766C>T (p.Ser922=)
c.4044C>T (p.Ser1348=)
 gnomAD v4
10g.75029934T>ACA377299940DUSP29,KAT6Bc.5110T>A (p.Cys1704Ser)
c.4561T>A (p.Cys1521Ser)
c.4234T>A (p.Cys1412Ser)
n.577-3340A>T
c.*3622-3340A>T (n.*3622-3340A>T)
c.4948T>A (p.Cys1650Ser)
c.4072T>A (p.Cys1358Ser)
c.3421T>A (p.Cys1141Ser)
c.3025T>A (p.Cys1009Ser)
c.2767T>A (p.Cys923Ser)
c.4045T>A (p.Cys1349Ser)
10g.75029934T>CCA377299941DUSP29,KAT6Bc.5110T>C (p.Cys1704Arg)
c.4561T>C (p.Cys1521Arg)
c.4234T>C (p.Cys1412Arg)
n.577-3340A>G
c.*3622-3340A>G (n.*3622-3340A>G)
c.4948T>C (p.Cys1650Arg)
c.4072T>C (p.Cys1358Arg)
c.3421T>C (p.Cys1141Arg)
c.3025T>C (p.Cys1009Arg)
c.2767T>C (p.Cys923Arg)
c.4045T>C (p.Cys1349Arg)
10g.75029934T>GCA377299943DUSP29,KAT6Bc.5110T>G (p.Cys1704Gly)
c.4561T>G (p.Cys1521Gly)
c.4234T>G (p.Cys1412Gly)
n.577-3340A>C
c.*3622-3340A>C (n.*3622-3340A>C)
c.4948T>G (p.Cys1650Gly)
c.4072T>G (p.Cys1358Gly)
c.3421T>G (p.Cys1141Gly)
c.3025T>G (p.Cys1009Gly)
c.2767T>G (p.Cys923Gly)
c.4045T>G (p.Cys1349Gly)
10g.75029935G>ACA377299944DUSP29,KAT6Bc.5111G>A (p.Cys1704Tyr)
c.4562G>A (p.Cys1521Tyr)
c.4235G>A (p.Cys1412Tyr)
n.577-3341C>T
c.*3622-3341C>T (n.*3622-3341C>T)
c.4949G>A (p.Cys1650Tyr)
c.4073G>A (p.Cys1358Tyr)
c.3422G>A (p.Cys1141Tyr)
c.3026G>A (p.Cys1009Tyr)
c.2768G>A (p.Cys923Tyr)
c.4046G>A (p.Cys1349Tyr)
10g.75029935G>CCA377299946DUSP29,KAT6Bc.5111G>C (p.Cys1704Ser)
c.4562G>C (p.Cys1521Ser)
c.4235G>C (p.Cys1412Ser)
n.577-3341C>G
c.*3622-3341C>G (n.*3622-3341C>G)
c.4949G>C (p.Cys1650Ser)
c.4073G>C (p.Cys1358Ser)
c.3422G>C (p.Cys1141Ser)
c.3026G>C (p.Cys1009Ser)
c.2768G>C (p.Cys923Ser)
c.4046G>C (p.Cys1349Ser)
10g.75029935G=CA1920306883DUSP29,KAT6Bc.5111G= (p.Cys1704=)
c.4562G= (p.Cys1521=)
c.4235G= (p.Cys1412=)
n.577-3341C=
c.*3622-3341C= (n.*3622-3341C=)
c.4949G= (p.Cys1650=)
c.4073G= (p.Cys1358=)
c.3422G= (p.Cys1141=)
c.3026G= (p.Cys1009=)
c.2768G= (p.Cys923=)
c.4046G= (p.Cys1349=)
10g.75029935G>TCA5565142DUSP29,KAT6Bc.5111G>T (p.Cys1704Phe)
c.4562G>T (p.Cys1521Phe)
c.4235G>T (p.Cys1412Phe)
n.577-3341C>A
c.*3622-3341C>A (n.*3622-3341C>A)
c.4949G>T (p.Cys1650Phe)
c.4073G>T (p.Cys1358Phe)
c.3422G>T (p.Cys1141Phe)
c.3026G>T (p.Cys1009Phe)
c.2768G>T (p.Cys923Phe)
c.4046G>T (p.Cys1349Phe)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.75029936C>ACA377299948DUSP29,KAT6Bc.5112C>A (p.Cys1704Ter)
c.4563C>A (p.Cys1521Ter)
c.4236C>A (p.Cys1412Ter)
n.577-3342G>T
c.*3622-3342G>T (n.*3622-3342G>T)
c.4950C>A (p.Cys1650Ter)
c.4074C>A (p.Cys1358Ter)
c.3423C>A (p.Cys1141Ter)
c.3027C>A (p.Cys1009Ter)
c.2769C>A (p.Cys923Ter)
c.4047C>A (p.Cys1349Ter)
10g.75029936C=CA1920306884DUSP29,KAT6Bc.5112C= (p.Cys1704=)
c.4563C= (p.Cys1521=)
c.4236C= (p.Cys1412=)
n.577-3342G=
c.*3622-3342G= (n.*3622-3342G=)
c.4950C= (p.Cys1650=)
c.4074C= (p.Cys1358=)
c.3423C= (p.Cys1141=)
c.3027C= (p.Cys1009=)
c.2769C= (p.Cys923=)
c.4047C= (p.Cys1349=)
10g.75029936C>GCA377299949DUSP29,KAT6Bc.5112C>G (p.Cys1704Trp)
c.4563C>G (p.Cys1521Trp)
c.4236C>G (p.Cys1412Trp)
n.577-3342G>C
c.*3622-3342G>C (n.*3622-3342G>C)
c.4950C>G (p.Cys1650Trp)
c.4074C>G (p.Cys1358Trp)
c.3423C>G (p.Cys1141Trp)
c.3027C>G (p.Cys1009Trp)
c.2769C>G (p.Cys923Trp)
c.4047C>G (p.Cys1349Trp)
10g.75029936C>TCA5565143DUSP29,KAT6Bc.5112C>T (p.Cys1704=)
c.4563C>T (p.Cys1521=)
c.4236C>T (p.Cys1412=)
n.577-3342G>A
c.*3622-3342G>A (n.*3622-3342G>A)
c.4950C>T (p.Cys1650=)
c.4074C>T (p.Cys1358=)
c.3423C>T (p.Cys1141=)
c.3027C>T (p.Cys1009=)
c.2769C>T (p.Cys923=)
c.4047C>T (p.Cys1349=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.75029937T>ACA377299956DUSP29,KAT6Bc.5113T>A (p.Ser1705Thr)
c.4564T>A (p.Ser1522Thr)
c.4237T>A (p.Ser1413Thr)
n.577-3343A>T
c.*3622-3343A>T (n.*3622-3343A>T)
c.4951T>A (p.Ser1651Thr)
c.4075T>A (p.Ser1359Thr)
c.3424T>A (p.Ser1142Thr)
c.3028T>A (p.Ser1010Thr)
c.2770T>A (p.Ser924Thr)
c.4048T>A (p.Ser1350Thr)
 gnomAD v4
10g.75029937T>CCA377299953DUSP29,KAT6Bc.5113T>C (p.Ser1705Pro)
c.4564T>C (p.Ser1522Pro)
c.4237T>C (p.Ser1413Pro)
n.577-3343A>G
c.*3622-3343A>G (n.*3622-3343A>G)
c.4951T>C (p.Ser1651Pro)
c.4075T>C (p.Ser1359Pro)
c.3424T>C (p.Ser1142Pro)
c.3028T>C (p.Ser1010Pro)
c.2770T>C (p.Ser924Pro)
c.4048T>C (p.Ser1350Pro)
10g.75029937T>GCA377299954DUSP29,KAT6Bc.5113T>G (p.Ser1705Ala)
c.4564T>G (p.Ser1522Ala)
c.4237T>G (p.Ser1413Ala)
n.577-3343A>C
c.*3622-3343A>C (n.*3622-3343A>C)
c.4951T>G (p.Ser1651Ala)
c.4075T>G (p.Ser1359Ala)
c.3424T>G (p.Ser1142Ala)
c.3028T>G (p.Ser1010Ala)
c.2770T>G (p.Ser924Ala)
c.4048T>G (p.Ser1350Ala)
10g.75029938C>ACA377299958DUSP29,KAT6Bc.5114C>A (p.Ser1705Tyr)
c.4565C>A (p.Ser1522Tyr)
c.4238C>A (p.Ser1413Tyr)
n.577-3344G>T
c.*3622-3344G>T (n.*3622-3344G>T)
c.4952C>A (p.Ser1651Tyr)
c.4076C>A (p.Ser1359Tyr)
c.3425C>A (p.Ser1142Tyr)
c.3029C>A (p.Ser1010Tyr)
c.2771C>A (p.Ser924Tyr)
c.4049C>A (p.Ser1350Tyr)
10g.75029938C=CA1920306885DUSP29,KAT6Bc.5114C= (p.Ser1705=)
c.4565C= (p.Ser1522=)
c.4238C= (p.Ser1413=)
n.577-3344G=
c.*3622-3344G= (n.*3622-3344G=)
c.4952C= (p.Ser1651=)
c.4076C= (p.Ser1359=)
c.3425C= (p.Ser1142=)
c.3029C= (p.Ser1010=)
c.2771C= (p.Ser924=)
c.4049C= (p.Ser1350=)
10g.75029938C>GCA209710385DUSP29,KAT6Bc.5114C>G (p.Ser1705Cys)
c.4565C>G (p.Ser1522Cys)
c.4238C>G (p.Ser1413Cys)
n.577-3344G>C
c.*3622-3344G>C (n.*3622-3344G>C)
c.4952C>G (p.Ser1651Cys)
c.4076C>G (p.Ser1359Cys)
c.3425C>G (p.Ser1142Cys)
c.3029C>G (p.Ser1010Cys)
c.2771C>G (p.Ser924Cys)
c.4049C>G (p.Ser1350Cys)
 dbSNP
10g.75029938C>TCA377299959DUSP29,KAT6Bc.5114C>T (p.Ser1705Phe)
c.4565C>T (p.Ser1522Phe)
c.4238C>T (p.Ser1413Phe)
n.577-3344G>A
c.*3622-3344G>A (n.*3622-3344G>A)
c.4952C>T (p.Ser1651Phe)
c.4076C>T (p.Ser1359Phe)
c.3425C>T (p.Ser1142Phe)
c.3029C>T (p.Ser1010Phe)
c.2771C>T (p.Ser924Phe)
c.4049C>T (p.Ser1350Phe)
 COSMIC
10g.75029939C>ACA470300488DUSP29,KAT6Bc.5115C>A (p.Ser1705=)
c.4566C>A (p.Ser1522=)
c.4239C>A (p.Ser1413=)
n.577-3345G>T
c.*3622-3345G>T (n.*3622-3345G>T)
c.4953C>A (p.Ser1651=)
c.4077C>A (p.Ser1359=)
c.3426C>A (p.Ser1142=)
c.3030C>A (p.Ser1010=)
c.2772C>A (p.Ser924=)
c.4050C>A (p.Ser1350=)
10g.75029939C=CA1920306886DUSP29,KAT6Bc.5115C= (p.Ser1705=)
c.4566C= (p.Ser1522=)
c.4239C= (p.Ser1413=)
n.577-3345G=
c.*3622-3345G= (n.*3622-3345G=)
c.4953C= (p.Ser1651=)
c.4077C= (p.Ser1359=)
c.3426C= (p.Ser1142=)
c.3030C= (p.Ser1010=)
c.2772C= (p.Ser924=)
c.4050C= (p.Ser1350=)
10g.75029939C>GCA470300489DUSP29,KAT6Bc.5115C>G (p.Ser1705=)
c.4566C>G (p.Ser1522=)
c.4239C>G (p.Ser1413=)
n.577-3345G>C
c.*3622-3345G>C (n.*3622-3345G>C)
c.4953C>G (p.Ser1651=)
c.4077C>G (p.Ser1359=)
c.3426C>G (p.Ser1142=)
c.3030C>G (p.Ser1010=)
c.2772C>G (p.Ser924=)
c.4050C>G (p.Ser1350=)
10g.75029939C>TCA470300490DUSP29,KAT6Bc.5115C>T (p.Ser1705=)
c.4566C>T (p.Ser1522=)
c.4239C>T (p.Ser1413=)
n.577-3345G>A
c.*3622-3345G>A (n.*3622-3345G>A)
c.4953C>T (p.Ser1651=)
c.4077C>T (p.Ser1359=)
c.3426C>T (p.Ser1142=)
c.3030C>T (p.Ser1010=)
c.2772C>T (p.Ser924=)
c.4050C>T (p.Ser1350=)
 dbSNP gnomAD v2 gnomAD v4
10g.75029940T>ACA377299962DUSP29,KAT6Bc.5116T>A (p.Tyr1706Asn)
c.4567T>A (p.Tyr1523Asn)
c.4240T>A (p.Tyr1414Asn)
n.577-3346A>T
c.*3622-3346A>T (n.*3622-3346A>T)
c.4954T>A (p.Tyr1652Asn)
c.4078T>A (p.Tyr1360Asn)
c.3427T>A (p.Tyr1143Asn)
c.3031T>A (p.Tyr1011Asn)
c.2773T>A (p.Tyr925Asn)
c.4051T>A (p.Tyr1351Asn)
10g.75029940T>CCA377299963DUSP29,KAT6Bc.5116T>C (p.Tyr1706His)
c.4567T>C (p.Tyr1523His)
c.4240T>C (p.Tyr1414His)
n.577-3346A>G
c.*3622-3346A>G (n.*3622-3346A>G)
c.4954T>C (p.Tyr1652His)
c.4078T>C (p.Tyr1360His)
c.3427T>C (p.Tyr1143His)
c.3031T>C (p.Tyr1011His)
c.2773T>C (p.Tyr925His)
c.4051T>C (p.Tyr1351His)
10g.75029940T>GCA377299964DUSP29,KAT6Bc.5116T>G (p.Tyr1706Asp)
c.4567T>G (p.Tyr1523Asp)
c.4240T>G (p.Tyr1414Asp)
n.577-3346A>C
c.*3622-3346A>C (n.*3622-3346A>C)
c.4954T>G (p.Tyr1652Asp)
c.4078T>G (p.Tyr1360Asp)
c.3427T>G (p.Tyr1143Asp)
c.3031T>G (p.Tyr1011Asp)
c.2773T>G (p.Tyr925Asp)
c.4051T>G (p.Tyr1351Asp)
10g.75029941A>CCA377299967DUSP29,KAT6Bc.5117A>C (p.Tyr1706Ser)
c.4568A>C (p.Tyr1523Ser)
c.4241A>C (p.Tyr1414Ser)
n.577-3347T>G
c.*3622-3347T>G (n.*3622-3347T>G)
c.4955A>C (p.Tyr1652Ser)
c.4079A>C (p.Tyr1360Ser)
c.3428A>C (p.Tyr1143Ser)
c.3032A>C (p.Tyr1011Ser)
c.2774A>C (p.Tyr925Ser)
c.4052A>C (p.Tyr1351Ser)
10g.75029941A>GCA377299969DUSP29,KAT6Bc.5117A>G (p.Tyr1706Cys)
c.4568A>G (p.Tyr1523Cys)
c.4241A>G (p.Tyr1414Cys)
n.577-3347T>C
c.*3622-3347T>C (n.*3622-3347T>C)
c.4955A>G (p.Tyr1652Cys)
c.4079A>G (p.Tyr1360Cys)
c.3428A>G (p.Tyr1143Cys)
c.3032A>G (p.Tyr1011Cys)
c.2774A>G (p.Tyr925Cys)
c.4052A>G (p.Tyr1351Cys)
 gnomAD v4 COSMIC
10g.75029941A>TCA377299970DUSP29,KAT6Bc.5117A>T (p.Tyr1706Phe)
c.4568A>T (p.Tyr1523Phe)
c.4241A>T (p.Tyr1414Phe)
n.577-3347T>A
c.*3622-3347T>A (n.*3622-3347T>A)
c.4955A>T (p.Tyr1652Phe)
c.4079A>T (p.Tyr1360Phe)
c.3428A>T (p.Tyr1143Phe)
c.3032A>T (p.Tyr1011Phe)
c.2774A>T (p.Tyr925Phe)
c.4052A>T (p.Tyr1351Phe)
 gnomAD v4
10g.75029942T>ACA377299971DUSP29,KAT6Bc.5118T>A (p.Tyr1706Ter)
c.4569T>A (p.Tyr1523Ter)
c.4242T>A (p.Tyr1414Ter)
n.577-3348A>T
c.*3622-3348A>T (n.*3622-3348A>T)
c.4956T>A (p.Tyr1652Ter)
c.4080T>A (p.Tyr1360Ter)
c.3429T>A (p.Tyr1143Ter)
c.3033T>A (p.Tyr1011Ter)
c.2775T>A (p.Tyr925Ter)
c.4053T>A (p.Tyr1351Ter)
10g.75029942T>CCA470300502DUSP29,KAT6Bc.5118T>C (p.Tyr1706=)
c.4569T>C (p.Tyr1523=)
c.4242T>C (p.Tyr1414=)
n.577-3348A>G
c.*3622-3348A>G (n.*3622-3348A>G)
c.4956T>C (p.Tyr1652=)
c.4080T>C (p.Tyr1360=)
c.3429T>C (p.Tyr1143=)
c.3033T>C (p.Tyr1011=)
c.2775T>C (p.Tyr925=)
c.4053T>C (p.Tyr1351=)
10g.75029942T>GCA377299972DUSP29,KAT6Bc.5118T>G (p.Tyr1706Ter)
c.4569T>G (p.Tyr1523Ter)
c.4242T>G (p.Tyr1414Ter)
n.577-3348A>C
c.*3622-3348A>C (n.*3622-3348A>C)
c.4956T>G (p.Tyr1652Ter)
c.4080T>G (p.Tyr1360Ter)
c.3429T>G (p.Tyr1143Ter)
c.3033T>G (p.Tyr1011Ter)
c.2775T>G (p.Tyr925Ter)
c.4053T>G (p.Tyr1351Ter)
10g.75029943A=CA1920306887DUSP29,KAT6Bc.5119A= (p.Ser1707=)
c.4570A= (p.Ser1524=)
c.4243A= (p.Ser1415=)
n.577-3349T=
c.*3622-3349T= (n.*3622-3349T=)
c.4957A= (p.Ser1653=)
c.4081A= (p.Ser1361=)
c.3430A= (p.Ser1144=)
c.3034A= (p.Ser1012=)
c.2776A= (p.Ser926=)
c.4054A= (p.Ser1352=)
10g.75029943A>CCA377299976DUSP29,KAT6Bc.5119A>C (p.Ser1707Arg)
c.4570A>C (p.Ser1524Arg)
c.4243A>C (p.Ser1415Arg)
n.577-3349T>G
c.*3622-3349T>G (n.*3622-3349T>G)
c.4957A>C (p.Ser1653Arg)
c.4081A>C (p.Ser1361Arg)
c.3430A>C (p.Ser1144Arg)
c.3034A>C (p.Ser1012Arg)
c.2776A>C (p.Ser926Arg)
c.4054A>C (p.Ser1352Arg)
10g.75029943A>GCA5565144DUSP29,KAT6Bc.5119A>G (p.Ser1707Gly)
c.4570A>G (p.Ser1524Gly)
c.4243A>G (p.Ser1415Gly)
n.577-3349T>C
c.*3622-3349T>C (n.*3622-3349T>C)
c.4957A>G (p.Ser1653Gly)
c.4081A>G (p.Ser1361Gly)
c.3430A>G (p.Ser1144Gly)
c.3034A>G (p.Ser1012Gly)
c.2776A>G (p.Ser926Gly)
c.4054A>G (p.Ser1352Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.75029943A>TCA377299975DUSP29,KAT6Bc.5119A>T (p.Ser1707Cys)
c.4570A>T (p.Ser1524Cys)
c.4243A>T (p.Ser1415Cys)
n.577-3349T>A
c.*3622-3349T>A (n.*3622-3349T>A)
c.4957A>T (p.Ser1653Cys)
c.4081A>T (p.Ser1361Cys)
c.3430A>T (p.Ser1144Cys)
c.3034A>T (p.Ser1012Cys)
c.2776A>T (p.Ser926Cys)
c.4054A>T (p.Ser1352Cys)
10g.75029944G>ACA377299978DUSP29,KAT6Bc.5120G>A (p.Ser1707Asn)
c.4571G>A (p.Ser1524Asn)
c.4244G>A (p.Ser1415Asn)
n.577-3350C>T
c.*3622-3350C>T (n.*3622-3350C>T)
c.4958G>A (p.Ser1653Asn)
c.4082G>A (p.Ser1361Asn)
c.3431G>A (p.Ser1144Asn)
c.3035G>A (p.Ser1012Asn)
c.2777G>A (p.Ser926Asn)
c.4055G>A (p.Ser1352Asn)
10g.75029944G>CCA377299980DUSP29,KAT6Bc.5120G>C (p.Ser1707Thr)
c.4571G>C (p.Ser1524Thr)
c.4244G>C (p.Ser1415Thr)
n.577-3350C>G
c.*3622-3350C>G (n.*3622-3350C>G)
c.4958G>C (p.Ser1653Thr)
c.4082G>C (p.Ser1361Thr)
c.3431G>C (p.Ser1144Thr)
c.3035G>C (p.Ser1012Thr)
c.2777G>C (p.Ser926Thr)
c.4055G>C (p.Ser1352Thr)
10g.75029944G>TCA377299982DUSP29,KAT6Bc.5120G>T (p.Ser1707Ile)
c.4571G>T (p.Ser1524Ile)
c.4244G>T (p.Ser1415Ile)
n.577-3350C>A
c.*3622-3350C>A (n.*3622-3350C>A)
c.4958G>T (p.Ser1653Ile)
c.4082G>T (p.Ser1361Ile)
c.3431G>T (p.Ser1144Ile)
c.3035G>T (p.Ser1012Ile)
c.2777G>T (p.Ser926Ile)
c.4055G>T (p.Ser1352Ile)
10g.75029945C>ACA377299984DUSP29,KAT6Bc.5121C>A (p.Ser1707Arg)
c.4572C>A (p.Ser1524Arg)
c.4245C>A (p.Ser1415Arg)
n.577-3351G>T
c.*3622-3351G>T (n.*3622-3351G>T)
c.4959C>A (p.Ser1653Arg)
c.4083C>A (p.Ser1361Arg)
c.3432C>A (p.Ser1144Arg)
c.3036C>A (p.Ser1012Arg)
c.2778C>A (p.Ser926Arg)
c.4056C>A (p.Ser1352Arg)
10g.75029945C>GCA377299985DUSP29,KAT6Bc.5121C>G (p.Ser1707Arg)
c.4572C>G (p.Ser1524Arg)
c.4245C>G (p.Ser1415Arg)
n.577-3351G>C
c.*3622-3351G>C (n.*3622-3351G>C)
c.4959C>G (p.Ser1653Arg)
c.4083C>G (p.Ser1361Arg)
c.3432C>G (p.Ser1144Arg)
c.3036C>G (p.Ser1012Arg)
c.2778C>G (p.Ser926Arg)
c.4056C>G (p.Ser1352Arg)
10g.75029945C>TCA470300512DUSP29,KAT6Bc.5121C>T (p.Ser1707=)
c.4572C>T (p.Ser1524=)
c.4245C>T (p.Ser1415=)
n.577-3351G>A
c.*3622-3351G>A (n.*3622-3351G>A)
c.4959C>T (p.Ser1653=)
c.4083C>T (p.Ser1361=)
c.3432C>T (p.Ser1144=)
c.3036C>T (p.Ser1012=)
c.2778C>T (p.Ser926=)
c.4056C>T (p.Ser1352=)
10g.75029946A>CCA377299990DUSP29,KAT6Bc.5122A>C (p.Asn1708His)
c.4573A>C (p.Asn1525His)
c.4246A>C (p.Asn1416His)
n.577-3352T>G
c.*3622-3352T>G (n.*3622-3352T>G)
c.4960A>C (p.Asn1654His)
c.4084A>C (p.Asn1362His)
c.3433A>C (p.Asn1145His)
c.3037A>C (p.Asn1013His)
c.2779A>C (p.Asn927His)
c.4057A>C (p.Asn1353His)
 gnomAD v4
10g.75029946A>GCA377299988DUSP29,KAT6Bc.5122A>G (p.Asn1708Asp)
c.4573A>G (p.Asn1525Asp)
c.4246A>G (p.Asn1416Asp)
n.577-3352T>C
c.*3622-3352T>C (n.*3622-3352T>C)
c.4960A>G (p.Asn1654Asp)
c.4084A>G (p.Asn1362Asp)
c.3433A>G (p.Asn1145Asp)
c.3037A>G (p.Asn1013Asp)
c.2779A>G (p.Asn927Asp)
c.4057A>G (p.Asn1353Asp)
10g.75029946A>TCA377299989DUSP29,KAT6Bc.5122A>T (p.Asn1708Tyr)
c.4573A>T (p.Asn1525Tyr)
c.4246A>T (p.Asn1416Tyr)
n.577-3352T>A
c.*3622-3352T>A (n.*3622-3352T>A)
c.4960A>T (p.Asn1654Tyr)
c.4084A>T (p.Asn1362Tyr)
c.3433A>T (p.Asn1145Tyr)
c.3037A>T (p.Asn1013Tyr)
c.2779A>T (p.Asn927Tyr)
c.4057A>T (p.Asn1353Tyr)
10g.75029947A>CCA377299992DUSP29,KAT6Bc.5123A>C (p.Asn1708Thr)
c.4574A>C (p.Asn1525Thr)
c.4247A>C (p.Asn1416Thr)
n.577-3353T>G
c.*3622-3353T>G (n.*3622-3353T>G)
c.4961A>C (p.Asn1654Thr)
c.4085A>C (p.Asn1362Thr)
c.3434A>C (p.Asn1145Thr)
c.3038A>C (p.Asn1013Thr)
c.2780A>C (p.Asn927Thr)
c.4058A>C (p.Asn1353Thr)
10g.75029947A>GCA377299993DUSP29,KAT6Bc.5123A>G (p.Asn1708Ser)
c.4574A>G (p.Asn1525Ser)
c.4247A>G (p.Asn1416Ser)
n.577-3353T>C
c.*3622-3353T>C (n.*3622-3353T>C)
c.4961A>G (p.Asn1654Ser)
c.4085A>G (p.Asn1362Ser)
c.3434A>G (p.Asn1145Ser)
c.3038A>G (p.Asn1013Ser)
c.2780A>G (p.Asn927Ser)
c.4058A>G (p.Asn1353Ser)
10g.75029947A>TCA377299995DUSP29,KAT6Bc.5123A>T (p.Asn1708Ile)
c.4574A>T (p.Asn1525Ile)
c.4247A>T (p.Asn1416Ile)
n.577-3353T>A
c.*3622-3353T>A (n.*3622-3353T>A)
c.4961A>T (p.Asn1654Ile)
c.4085A>T (p.Asn1362Ile)
c.3434A>T (p.Asn1145Ile)
c.3038A>T (p.Asn1013Ile)
c.2780A>T (p.Asn927Ile)
c.4058A>T (p.Asn1353Ile)
10g.75029947_75029948delinsACCA1920306888DUSP29,KAT6Bc.5123_5124delinsAC (p.Asn1708=)
c.4574_4575delinsAC (p.Asn1525=)
c.4247_4248delinsAC (p.Asn1416=)
n.577-3354_577-3353delinsGT
c.*3622-3354_*3622-3353delinsGT (n.*3622-3354_*3622-3353delinsGT)
c.4961_4962delinsAC (p.Asn1654=)
c.4085_4086delinsAC (p.Asn1362=)
c.3434_3435delinsAC (p.Asn1145=)
c.3038_3039delinsAC (p.Asn1013=)
c.2780_2781delinsAC (p.Asn927=)
c.4058_4059delinsAC (p.Asn1353=)
10g.75029948C>ACA377299996DUSP29,KAT6Bc.5124C>A (p.Asn1708Lys)
c.4575C>A (p.Asn1525Lys)
c.4248C>A (p.Asn1416Lys)
n.577-3354G>T
c.*3622-3354G>T (n.*3622-3354G>T)
c.4962C>A (p.Asn1654Lys)
c.4086C>A (p.Asn1362Lys)
c.3435C>A (p.Asn1145Lys)
c.3039C>A (p.Asn1013Lys)
c.2781C>A (p.Asn927Lys)
c.4059C>A (p.Asn1353Lys)
10g.75029948C>GCA377299998DUSP29,KAT6Bc.5124C>G (p.Asn1708Lys)
c.4575C>G (p.Asn1525Lys)
c.4248C>G (p.Asn1416Lys)
n.577-3354G>C
c.*3622-3354G>C (n.*3622-3354G>C)
c.4962C>G (p.Asn1654Lys)
c.4086C>G (p.Asn1362Lys)
c.3435C>G (p.Asn1145Lys)
c.3039C>G (p.Asn1013Lys)
c.2781C>G (p.Asn927Lys)
c.4059C>G (p.Asn1353Lys)
10g.75029948C>TCA470300523DUSP29,KAT6Bc.5124C>T (p.Asn1708=)
c.4575C>T (p.Asn1525=)
c.4248C>T (p.Asn1416=)
n.577-3354G>A
c.*3622-3354G>A (n.*3622-3354G>A)
c.4962C>T (p.Asn1654=)
c.4086C>T (p.Asn1362=)
c.3435C>T (p.Asn1145=)
c.3039C>T (p.Asn1013=)
c.2781C>T (p.Asn927=)
c.4059C>T (p.Asn1353=)
10g.75029949delCA1139661518DUSP29,KAT6Bc.5125del (p.Leu1709SerfsTer6)
c.4576del (p.Leu1526SerfsTer6)
c.4249del (p.Leu1417SerfsTer6)
n.577-3354del
c.*3622-3354del (n.*3622-3354del)
c.4963del (p.Leu1655SerfsTer6)
c.4087del (p.Leu1363SerfsTer6)
c.3436del (p.Leu1146SerfsTer6)
c.3040del (p.Leu1014SerfsTer6)
c.2782del (p.Leu928SerfsTer6)
c.4060del (p.Leu1354SerfsTer6)
 ClinVar dbSNP
10g.75029949C>ACA377300003DUSP29,KAT6Bc.5125C>A (p.Leu1709Ile)
c.4576C>A (p.Leu1526Ile)
c.4249C>A (p.Leu1417Ile)
n.577-3355G>T
c.*3622-3355G>T (n.*3622-3355G>T)
c.4963C>A (p.Leu1655Ile)
c.4087C>A (p.Leu1363Ile)
c.3436C>A (p.Leu1146Ile)
c.3040C>A (p.Leu1014Ile)
c.2782C>A (p.Leu928Ile)
c.4060C>A (p.Leu1354Ile)
10g.75029949C>GCA377300000DUSP29,KAT6Bc.5125C>G (p.Leu1709Val)
c.4576C>G (p.Leu1526Val)
c.4249C>G (p.Leu1417Val)
n.577-3355G>C
c.*3622-3355G>C (n.*3622-3355G>C)
c.4963C>G (p.Leu1655Val)
c.4087C>G (p.Leu1363Val)
c.3436C>G (p.Leu1146Val)
c.3040C>G (p.Leu1014Val)
c.2782C>G (p.Leu928Val)
c.4060C>G (p.Leu1354Val)
10g.75029949C>TCA377300002DUSP29,KAT6Bc.5125C>T (p.Leu1709Phe)
c.4576C>T (p.Leu1526Phe)
c.4249C>T (p.Leu1417Phe)
n.577-3355G>A
c.*3622-3355G>A (n.*3622-3355G>A)
c.4963C>T (p.Leu1655Phe)
c.4087C>T (p.Leu1363Phe)
c.3436C>T (p.Leu1146Phe)
c.3040C>T (p.Leu1014Phe)
c.2782C>T (p.Leu928Phe)
c.4060C>T (p.Leu1354Phe)
10g.75029950T>ACA377300004DUSP29,KAT6Bc.5126T>A (p.Leu1709His)
c.4577T>A (p.Leu1526His)
c.4250T>A (p.Leu1417His)
n.577-3356A>T
c.*3622-3356A>T (n.*3622-3356A>T)
c.4964T>A (p.Leu1655His)
c.4088T>A (p.Leu1363His)
c.3437T>A (p.Leu1146His)
c.3041T>A (p.Leu1014His)
c.2783T>A (p.Leu928His)
c.4061T>A (p.Leu1354His)
10g.75029950T>CCA377300006DUSP29,KAT6Bc.5126T>C (p.Leu1709Pro)
c.4577T>C (p.Leu1526Pro)
c.4250T>C (p.Leu1417Pro)
n.577-3356A>G
c.*3622-3356A>G (n.*3622-3356A>G)
c.4964T>C (p.Leu1655Pro)
c.4088T>C (p.Leu1363Pro)
c.3437T>C (p.Leu1146Pro)
c.3041T>C (p.Leu1014Pro)
c.2783T>C (p.Leu928Pro)
c.4061T>C (p.Leu1354Pro)
10g.75029950T>GCA377300008DUSP29,KAT6Bc.5126T>G (p.Leu1709Arg)
c.4577T>G (p.Leu1526Arg)
c.4250T>G (p.Leu1417Arg)
n.577-3356A>C
c.*3622-3356A>C (n.*3622-3356A>C)
c.4964T>G (p.Leu1655Arg)
c.4088T>G (p.Leu1363Arg)
c.3437T>G (p.Leu1146Arg)
c.3041T>G (p.Leu1014Arg)
c.2783T>G (p.Leu928Arg)
c.4061T>G (p.Leu1354Arg)
10g.75029951C>ACA470300530DUSP29,KAT6Bc.5127C>A (p.Leu1709=)
c.4578C>A (p.Leu1526=)
c.4251C>A (p.Leu1417=)
n.577-3357G>T
c.*3622-3357G>T (n.*3622-3357G>T)
c.4965C>A (p.Leu1655=)
c.4089C>A (p.Leu1363=)
c.3438C>A (p.Leu1146=)
c.3042C>A (p.Leu1014=)
c.2784C>A (p.Leu928=)
c.4062C>A (p.Leu1354=)
10g.75029951C=CA1920306889DUSP29,KAT6Bc.5127C= (p.Leu1709=)
c.4578C= (p.Leu1526=)
c.4251C= (p.Leu1417=)
n.577-3357G=
c.*3622-3357G= (n.*3622-3357G=)
c.4965C= (p.Leu1655=)
c.4089C= (p.Leu1363=)
c.3438C= (p.Leu1146=)
c.3042C= (p.Leu1014=)
c.2784C= (p.Leu928=)
c.4062C= (p.Leu1354=)
10g.75029951C>GCA470300531DUSP29,KAT6Bc.5127C>G (p.Leu1709=)
c.4578C>G (p.Leu1526=)
c.4251C>G (p.Leu1417=)
n.577-3357G>C
c.*3622-3357G>C (n.*3622-3357G>C)
c.4965C>G (p.Leu1655=)
c.4089C>G (p.Leu1363=)
c.3438C>G (p.Leu1146=)
c.3042C>G (p.Leu1014=)
c.2784C>G (p.Leu928=)
c.4062C>G (p.Leu1354=)
10g.75029951C>TCA5565145DUSP29,KAT6Bc.5127C>T (p.Leu1709=)
c.4578C>T (p.Leu1526=)
c.4251C>T (p.Leu1417=)
n.577-3357G>A
c.*3622-3357G>A (n.*3622-3357G>A)
c.4965C>T (p.Leu1655=)
c.4089C>T (p.Leu1363=)
c.3438C>T (p.Leu1146=)
c.3042C>T (p.Leu1014=)
c.2784C>T (p.Leu928=)
c.4062C>T (p.Leu1354=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched