Chr Mutation (hg38) CAid Gene Transcript Linkouts
10g.75028722dupCA658761662DUSP29,KAT6Bc.3898dup (p.Thr1300AsnfsTer9)
c.3349dup (p.Thr1117AsnfsTer9)
c.3022dup (p.Thr1008AsnfsTer9)
c.2833dup (p.Thr945AsnfsTer9)
n.577-2124dup
c.*3622-2124dup (n.*3622-2124dup)
c.3736dup (p.Thr1246AsnfsTer9)
c.2860dup (p.Thr954AsnfsTer9)
c.2209dup (p.Thr737AsnfsTer9)
c.1813dup (p.Thr605AsnfsTer9)
c.1555dup (p.Thr519AsnfsTer9)
10g.75028721A>CCA377292530DUSP29,KAT6Bc.3897A>C (p.Lys1299Asn)
c.3348A>C (p.Lys1116Asn)
c.3021A>C (p.Lys1007Asn)
c.2832A>C (p.Lys944Asn)
n.577-2127T>G
c.*3622-2127T>G (n.*3622-2127T>G)
c.3735A>C (p.Lys1245Asn)
c.2859A>C (p.Lys953Asn)
c.2208A>C (p.Lys736Asn)
c.1812A>C (p.Lys604Asn)
c.1554A>C (p.Lys518Asn)
10g.75028721A>GCA470299589DUSP29,KAT6Bc.3897A>G (p.Lys1299=)
c.3348A>G (p.Lys1116=)
c.3021A>G (p.Lys1007=)
c.2832A>G (p.Lys944=)
n.577-2127T>C
c.*3622-2127T>C (n.*3622-2127T>C)
c.3735A>G (p.Lys1245=)
c.2859A>G (p.Lys953=)
c.2208A>G (p.Lys736=)
c.1812A>G (p.Lys604=)
c.1554A>G (p.Lys518=)
10g.75028721A>TCA377292531DUSP29,KAT6Bc.3897A>T (p.Lys1299Asn)
c.3348A>T (p.Lys1116Asn)
c.3021A>T (p.Lys1007Asn)
c.2832A>T (p.Lys944Asn)
n.577-2127T>A
c.*3622-2127T>A (n.*3622-2127T>A)
c.3735A>T (p.Lys1245Asn)
c.2859A>T (p.Lys953Asn)
c.2208A>T (p.Lys736Asn)
c.1812A>T (p.Lys604Asn)
c.1554A>T (p.Lys518Asn)
10g.75028722A=CA1920306436DUSP29,KAT6Bc.3898A= (p.Thr1300=)
c.3349A= (p.Thr1117=)
c.3022A= (p.Thr1008=)
c.2833A= (p.Thr945=)
n.577-2128T=
c.*3622-2128T= (n.*3622-2128T=)
c.3736A= (p.Thr1246=)
c.2860A= (p.Thr954=)
c.2209A= (p.Thr737=)
c.1813A= (p.Thr605=)
c.1555A= (p.Thr519=)
10g.75028722A>CCA377292532DUSP29,KAT6Bc.3898A>C (p.Thr1300Pro)
c.3349A>C (p.Thr1117Pro)
c.3022A>C (p.Thr1008Pro)
c.2833A>C (p.Thr945Pro)
n.577-2128T>G
c.*3622-2128T>G (n.*3622-2128T>G)
c.3736A>C (p.Thr1246Pro)
c.2860A>C (p.Thr954Pro)
c.2209A>C (p.Thr737Pro)
c.1813A>C (p.Thr605Pro)
c.1555A>C (p.Thr519Pro)
10g.75028722A>GCA377292533DUSP29,KAT6Bc.3898A>G (p.Thr1300Ala)
c.3349A>G (p.Thr1117Ala)
c.3022A>G (p.Thr1008Ala)
c.2833A>G (p.Thr945Ala)
n.577-2128T>C
c.*3622-2128T>C (n.*3622-2128T>C)
c.3736A>G (p.Thr1246Ala)
c.2860A>G (p.Thr954Ala)
c.2209A>G (p.Thr737Ala)
c.1813A>G (p.Thr605Ala)
c.1555A>G (p.Thr519Ala)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.75028722A>TCA377292534DUSP29,KAT6Bc.3898A>T (p.Thr1300Ser)
c.3349A>T (p.Thr1117Ser)
c.3022A>T (p.Thr1008Ser)
c.2833A>T (p.Thr945Ser)
n.577-2128T>A
c.*3622-2128T>A (n.*3622-2128T>A)
c.3736A>T (p.Thr1246Ser)
c.2860A>T (p.Thr954Ser)
c.2209A>T (p.Thr737Ser)
c.1813A>T (p.Thr605Ser)
c.1555A>T (p.Thr519Ser)
10g.75028723C>ACA377292535DUSP29,KAT6Bc.3899C>A (p.Thr1300Asn)
c.3350C>A (p.Thr1117Asn)
c.3023C>A (p.Thr1008Asn)
c.2834C>A (p.Thr945Asn)
n.577-2129G>T
c.*3622-2129G>T (n.*3622-2129G>T)
c.3737C>A (p.Thr1246Asn)
c.2861C>A (p.Thr954Asn)
c.2210C>A (p.Thr737Asn)
c.1814C>A (p.Thr605Asn)
c.1556C>A (p.Thr519Asn)
10g.75028723C=CA1920306437DUSP29,KAT6Bc.3899C= (p.Thr1300=)
c.3350C= (p.Thr1117=)
c.3023C= (p.Thr1008=)
c.2834C= (p.Thr945=)
n.577-2129G=
c.*3622-2129G= (n.*3622-2129G=)
c.3737C= (p.Thr1246=)
c.2861C= (p.Thr954=)
c.2210C= (p.Thr737=)
c.1814C= (p.Thr605=)
c.1556C= (p.Thr519=)
10g.75028723C>GCA377292536DUSP29,KAT6Bc.3899C>G (p.Thr1300Ser)
c.3350C>G (p.Thr1117Ser)
c.3023C>G (p.Thr1008Ser)
c.2834C>G (p.Thr945Ser)
n.577-2129G>C
c.*3622-2129G>C (n.*3622-2129G>C)
c.3737C>G (p.Thr1246Ser)
c.2861C>G (p.Thr954Ser)
c.2210C>G (p.Thr737Ser)
c.1814C>G (p.Thr605Ser)
c.1556C>G (p.Thr519Ser)
10g.75028723C>TCA377292537DUSP29,KAT6Bc.3899C>T (p.Thr1300Ile)
c.3350C>T (p.Thr1117Ile)
c.3023C>T (p.Thr1008Ile)
c.2834C>T (p.Thr945Ile)
n.577-2129G>A
c.*3622-2129G>A (n.*3622-2129G>A)
c.3737C>T (p.Thr1246Ile)
c.2861C>T (p.Thr954Ile)
c.2210C>T (p.Thr737Ile)
c.1814C>T (p.Thr605Ile)
c.1556C>T (p.Thr519Ile)
 dbSNP gnomAD v4
10g.75028724C>ACA470299592DUSP29,KAT6Bc.3900C>A (p.Thr1300=)
c.3351C>A (p.Thr1117=)
c.3024C>A (p.Thr1008=)
c.2835C>A (p.Thr945=)
n.577-2130G>T
c.*3622-2130G>T (n.*3622-2130G>T)
c.3738C>A (p.Thr1246=)
c.2862C>A (p.Thr954=)
c.2211C>A (p.Thr737=)
c.1815C>A (p.Thr605=)
c.1557C>A (p.Thr519=)
10g.75028724C=CA1920306438DUSP29,KAT6Bc.3900C= (p.Thr1300=)
c.3351C= (p.Thr1117=)
c.3024C= (p.Thr1008=)
c.2835C= (p.Thr945=)
n.577-2130G=
c.*3622-2130G= (n.*3622-2130G=)
c.3738C= (p.Thr1246=)
c.2862C= (p.Thr954=)
c.2211C= (p.Thr737=)
c.1815C= (p.Thr605=)
c.1557C= (p.Thr519=)
10g.75028724C>GCA5564920DUSP29,KAT6Bc.3900C>G (p.Thr1300=)
c.3351C>G (p.Thr1117=)
c.3024C>G (p.Thr1008=)
c.2835C>G (p.Thr945=)
n.577-2130G>C
c.*3622-2130G>C (n.*3622-2130G>C)
c.3738C>G (p.Thr1246=)
c.2862C>G (p.Thr954=)
c.2211C>G (p.Thr737=)
c.1815C>G (p.Thr605=)
c.1557C>G (p.Thr519=)
 ClinVar dbSNP ExAC gnomAD v3 gnomAD v4
10g.75028724C>TCA209709212DUSP29,KAT6Bc.3900C>T (p.Thr1300=)
c.3351C>T (p.Thr1117=)
c.3024C>T (p.Thr1008=)
c.2835C>T (p.Thr945=)
n.577-2130G>A
c.*3622-2130G>A (n.*3622-2130G>A)
c.3738C>T (p.Thr1246=)
c.2862C>T (p.Thr954=)
c.2211C>T (p.Thr737=)
c.1815C>T (p.Thr605=)
c.1557C>T (p.Thr519=)
 dbSNP gnomAD v4
10g.75028725A>CCA377292539DUSP29,KAT6Bc.3901A>C (p.Ser1301Arg)
c.3352A>C (p.Ser1118Arg)
c.3025A>C (p.Ser1009Arg)
c.2836A>C (p.Ser946Arg)
n.577-2131T>G
c.*3622-2131T>G (n.*3622-2131T>G)
c.3739A>C (p.Ser1247Arg)
c.2863A>C (p.Ser955Arg)
c.2212A>C (p.Ser738Arg)
c.1816A>C (p.Ser606Arg)
c.1558A>C (p.Ser520Arg)
10g.75028725A>GCA377292540DUSP29,KAT6Bc.3901A>G (p.Ser1301Gly)
c.3352A>G (p.Ser1118Gly)
c.3025A>G (p.Ser1009Gly)
c.2836A>G (p.Ser946Gly)
n.577-2131T>C
c.*3622-2131T>C (n.*3622-2131T>C)
c.3739A>G (p.Ser1247Gly)
c.2863A>G (p.Ser955Gly)
c.2212A>G (p.Ser738Gly)
c.1816A>G (p.Ser606Gly)
c.1558A>G (p.Ser520Gly)
10g.75028725A>TCA377292538DUSP29,KAT6Bc.3901A>T (p.Ser1301Cys)
c.3352A>T (p.Ser1118Cys)
c.3025A>T (p.Ser1009Cys)
c.2836A>T (p.Ser946Cys)
n.577-2131T>A
c.*3622-2131T>A (n.*3622-2131T>A)
c.3739A>T (p.Ser1247Cys)
c.2863A>T (p.Ser955Cys)
c.2212A>T (p.Ser738Cys)
c.1816A>T (p.Ser606Cys)
c.1558A>T (p.Ser520Cys)
10g.75028726G>ACA377292541DUSP29,KAT6Bc.3902G>A (p.Ser1301Asn)
c.3353G>A (p.Ser1118Asn)
c.3026G>A (p.Ser1009Asn)
c.2837G>A (p.Ser946Asn)
n.577-2132C>T
c.*3622-2132C>T (n.*3622-2132C>T)
c.3740G>A (p.Ser1247Asn)
c.2864G>A (p.Ser955Asn)
c.2213G>A (p.Ser738Asn)
c.1817G>A (p.Ser606Asn)
c.1559G>A (p.Ser520Asn)
10g.75028726G>CCA377292542DUSP29,KAT6Bc.3902G>C (p.Ser1301Thr)
c.3353G>C (p.Ser1118Thr)
c.3026G>C (p.Ser1009Thr)
c.2837G>C (p.Ser946Thr)
n.577-2132C>G
c.*3622-2132C>G (n.*3622-2132C>G)
c.3740G>C (p.Ser1247Thr)
c.2864G>C (p.Ser955Thr)
c.2213G>C (p.Ser738Thr)
c.1817G>C (p.Ser606Thr)
c.1559G>C (p.Ser520Thr)
10g.75028726G>TCA377292543DUSP29,KAT6Bc.3902G>T (p.Ser1301Ile)
c.3353G>T (p.Ser1118Ile)
c.3026G>T (p.Ser1009Ile)
c.2837G>T (p.Ser946Ile)
n.577-2132C>A
c.*3622-2132C>A (n.*3622-2132C>A)
c.3740G>T (p.Ser1247Ile)
c.2864G>T (p.Ser955Ile)
c.2213G>T (p.Ser738Ile)
c.1817G>T (p.Ser606Ile)
c.1559G>T (p.Ser520Ile)
10g.75028726_75028729delCA2566138389DUSP29,KAT6Bc.3902_3905del (p.Ser1301ThrfsTer?)
c.3353_3356del (p.Ser1118ThrfsTer?)
c.3026_3029del (p.Ser1009ThrfsTer?)
c.2837_2840del (p.Ser946ThrfsTer?)
n.577-2135_577-2132del
c.*3622-2135_*3622-2132del (n.*3622-2135_*3622-2132del)
c.3740_3743del (p.Ser1247ThrfsTer?)
c.2864_2867del (p.Ser955ThrfsTer?)
c.2213_2216del (p.Ser738ThrfsTer?)
c.1817_1820del (p.Ser606ThrfsTer?)
c.1559_1562del (p.Ser520ThrfsTer?)
10g.75028726_75028727insACTTGGTTTATAACACAATATTATTACACATTAGCCTTGATTATGTCA2609745697DUSP29,KAT6Bc.3902_3903insACTTGGTTTATAACACAATATTATTACACATTAGCCTTGATTATGT (p.Ser1301ArgfsTer5)
c.3353_3354insACTTGGTTTATAACACAATATTATTACACATTAGCCTTGATTATGT (p.Ser1118ArgfsTer5)
c.3026_3027insACTTGGTTTATAACACAATATTATTACACATTAGCCTTGATTATGT (p.Ser1009ArgfsTer5)
c.2837_2838insACTTGGTTTATAACACAATATTATTACACATTAGCCTTGATTATGT (p.Ser946ArgfsTer5)
n.577-2133_577-2132insACATAATCAAGGCTAATGTGTAATAATATTGTGTTATAAACCAAGT
c.*3622-2133_*3622-2132insACATAATCAAGGCTAATGTGTAATAATATTGTGTTATAAACCAAGT (n.*3622-2133_*3622-2132insACATAATCAAGGCTAATGTGTAATAATATTGTGTTATAAACCAAGT)
c.3740_3741insACTTGGTTTATAACACAATATTATTACACATTAGCCTTGATTATGT (p.Ser1247ArgfsTer5)
c.2864_2865insACTTGGTTTATAACACAATATTATTACACATTAGCCTTGATTATGT (p.Ser955ArgfsTer5)
c.2213_2214insACTTGGTTTATAACACAATATTATTACACATTAGCCTTGATTATGT (p.Ser738ArgfsTer5)
c.1817_1818insACTTGGTTTATAACACAATATTATTACACATTAGCCTTGATTATGT (p.Ser606ArgfsTer5)
c.1559_1560insACTTGGTTTATAACACAATATTATTACACATTAGCCTTGATTATGT (p.Ser520ArgfsTer5)
 gnomAD v4
10g.75028727C>ACA377292544DUSP29,KAT6Bc.3903C>A (p.Ser1301Arg)
c.3354C>A (p.Ser1118Arg)
c.3027C>A (p.Ser1009Arg)
c.2838C>A (p.Ser946Arg)
n.577-2133G>T
c.*3622-2133G>T (n.*3622-2133G>T)
c.3741C>A (p.Ser1247Arg)
c.2865C>A (p.Ser955Arg)
c.2214C>A (p.Ser738Arg)
c.1818C>A (p.Ser606Arg)
c.1560C>A (p.Ser520Arg)
10g.75028727C>GCA377292545DUSP29,KAT6Bc.3903C>G (p.Ser1301Arg)
c.3354C>G (p.Ser1118Arg)
c.3027C>G (p.Ser1009Arg)
c.2838C>G (p.Ser946Arg)
n.577-2133G>C
c.*3622-2133G>C (n.*3622-2133G>C)
c.3741C>G (p.Ser1247Arg)
c.2865C>G (p.Ser955Arg)
c.2214C>G (p.Ser738Arg)
c.1818C>G (p.Ser606Arg)
c.1560C>G (p.Ser520Arg)
10g.75028727C>TCA470299596DUSP29,KAT6Bc.3903C>T (p.Ser1301=)
c.3354C>T (p.Ser1118=)
c.3027C>T (p.Ser1009=)
c.2838C>T (p.Ser946=)
n.577-2133G>A
c.*3622-2133G>A (n.*3622-2133G>A)
c.3741C>T (p.Ser1247=)
c.2865C>T (p.Ser955=)
c.2214C>T (p.Ser738=)
c.1818C>T (p.Ser606=)
c.1560C>T (p.Ser520=)
 gnomAD v4
10g.75028730delCA2499220380DUSP29,KAT6Bc.3906del (p.Ser1303ValfsTer?)
c.3357del (p.Ser1120ValfsTer?)
c.3030del (p.Ser1011ValfsTer?)
c.2841del (p.Ser948ValfsTer?)
n.577-2133del
c.*3622-2133del (n.*3622-2133del)
c.3744del (p.Ser1249ValfsTer?)
c.2868del (p.Ser957ValfsTer?)
c.2217del (p.Ser740ValfsTer?)
c.1821del (p.Ser608ValfsTer?)
c.1563del (p.Ser522ValfsTer?)
 ClinVar dbSNP
10g.75028728C>ACA377292548DUSP29,KAT6Bc.3904C>A (p.Pro1302Thr)
c.3355C>A (p.Pro1119Thr)
c.3028C>A (p.Pro1010Thr)
c.2839C>A (p.Pro947Thr)
n.577-2134G>T
c.*3622-2134G>T (n.*3622-2134G>T)
c.3742C>A (p.Pro1248Thr)
c.2866C>A (p.Pro956Thr)
c.2215C>A (p.Pro739Thr)
c.1819C>A (p.Pro607Thr)
c.1561C>A (p.Pro521Thr)
10g.75028728C>GCA377292547DUSP29,KAT6Bc.3904C>G (p.Pro1302Ala)
c.3355C>G (p.Pro1119Ala)
c.3028C>G (p.Pro1010Ala)
c.2839C>G (p.Pro947Ala)
n.577-2134G>C
c.*3622-2134G>C (n.*3622-2134G>C)
c.3742C>G (p.Pro1248Ala)
c.2866C>G (p.Pro956Ala)
c.2215C>G (p.Pro739Ala)
c.1819C>G (p.Pro607Ala)
c.1561C>G (p.Pro521Ala)
10g.75028728C>TCA377292546DUSP29,KAT6Bc.3904C>T (p.Pro1302Ser)
c.3355C>T (p.Pro1119Ser)
c.3028C>T (p.Pro1010Ser)
c.2839C>T (p.Pro947Ser)
n.577-2134G>A
c.*3622-2134G>A (n.*3622-2134G>A)
c.3742C>T (p.Pro1248Ser)
c.2866C>T (p.Pro956Ser)
c.2215C>T (p.Pro739Ser)
c.1819C>T (p.Pro607Ser)
c.1561C>T (p.Pro521Ser)
10g.75028729C>ACA377292549DUSP29,KAT6Bc.3905C>A (p.Pro1302His)
c.3356C>A (p.Pro1119His)
c.3029C>A (p.Pro1010His)
c.2840C>A (p.Pro947His)
n.577-2135G>T
c.*3622-2135G>T (n.*3622-2135G>T)
c.3743C>A (p.Pro1248His)
c.2867C>A (p.Pro956His)
c.2216C>A (p.Pro739His)
c.1820C>A (p.Pro607His)
c.1562C>A (p.Pro521His)
10g.75028729C>GCA377292550DUSP29,KAT6Bc.3905C>G (p.Pro1302Arg)
c.3356C>G (p.Pro1119Arg)
c.3029C>G (p.Pro1010Arg)
c.2840C>G (p.Pro947Arg)
n.577-2135G>C
c.*3622-2135G>C (n.*3622-2135G>C)
c.3743C>G (p.Pro1248Arg)
c.2867C>G (p.Pro956Arg)
c.2216C>G (p.Pro739Arg)
c.1820C>G (p.Pro607Arg)
c.1562C>G (p.Pro521Arg)
10g.75028729C>TCA377292551DUSP29,KAT6Bc.3905C>T (p.Pro1302Leu)
c.3356C>T (p.Pro1119Leu)
c.3029C>T (p.Pro1010Leu)
c.2840C>T (p.Pro947Leu)
n.577-2135G>A
c.*3622-2135G>A (n.*3622-2135G>A)
c.3743C>T (p.Pro1248Leu)
c.2867C>T (p.Pro956Leu)
c.2216C>T (p.Pro739Leu)
c.1820C>T (p.Pro607Leu)
c.1562C>T (p.Pro521Leu)
 gnomAD v4
10g.75028730C>ACA470299598DUSP29,KAT6Bc.3906C>A (p.Pro1302=)
c.3357C>A (p.Pro1119=)
c.3030C>A (p.Pro1010=)
c.2841C>A (p.Pro947=)
n.577-2136G>T
c.*3622-2136G>T (n.*3622-2136G>T)
c.3744C>A (p.Pro1248=)
c.2868C>A (p.Pro956=)
c.2217C>A (p.Pro739=)
c.1821C>A (p.Pro607=)
c.1563C>A (p.Pro521=)
10g.75028730C>GCA470299599DUSP29,KAT6Bc.3906C>G (p.Pro1302=)
c.3357C>G (p.Pro1119=)
c.3030C>G (p.Pro1010=)
c.2841C>G (p.Pro947=)
n.577-2136G>C
c.*3622-2136G>C (n.*3622-2136G>C)
c.3744C>G (p.Pro1248=)
c.2868C>G (p.Pro956=)
c.2217C>G (p.Pro739=)
c.1821C>G (p.Pro607=)
c.1563C>G (p.Pro521=)
10g.75028730C>TCA470299600DUSP29,KAT6Bc.3906C>T (p.Pro1302=)
c.3357C>T (p.Pro1119=)
c.3030C>T (p.Pro1010=)
c.2841C>T (p.Pro947=)
n.577-2136G>A
c.*3622-2136G>A (n.*3622-2136G>A)
c.3744C>T (p.Pro1248=)
c.2868C>T (p.Pro956=)
c.2217C>T (p.Pro739=)
c.1821C>T (p.Pro607=)
c.1563C>T (p.Pro521=)
10g.75028731A=CA1920306439DUSP29,KAT6Bc.3907A= (p.Ser1303=)
c.3358A= (p.Ser1120=)
c.3031A= (p.Ser1011=)
c.2842A= (p.Ser948=)
n.577-2137T=
c.*3622-2137T= (n.*3622-2137T=)
c.3745A= (p.Ser1249=)
c.2869A= (p.Ser957=)
c.2218A= (p.Ser740=)
c.1822A= (p.Ser608=)
c.1564A= (p.Ser522=)
10g.75028731A>CCA377292552DUSP29,KAT6Bc.3907A>C (p.Ser1303Arg)
c.3358A>C (p.Ser1120Arg)
c.3031A>C (p.Ser1011Arg)
c.2842A>C (p.Ser948Arg)
n.577-2137T>G
c.*3622-2137T>G (n.*3622-2137T>G)
c.3745A>C (p.Ser1249Arg)
c.2869A>C (p.Ser957Arg)
c.2218A>C (p.Ser740Arg)
c.1822A>C (p.Ser608Arg)
c.1564A>C (p.Ser522Arg)
10g.75028731A>GCA16603211DUSP29,KAT6Bc.3907A>G (p.Ser1303Gly)
c.3358A>G (p.Ser1120Gly)
c.3031A>G (p.Ser1011Gly)
c.2842A>G (p.Ser948Gly)
n.577-2137T>C
c.*3622-2137T>C (n.*3622-2137T>C)
c.3745A>G (p.Ser1249Gly)
c.2869A>G (p.Ser957Gly)
c.2218A>G (p.Ser740Gly)
c.1822A>G (p.Ser608Gly)
c.1564A>G (p.Ser522Gly)
 ClinVar dbSNP gnomAD v4
10g.75028731A>TCA377292553DUSP29,KAT6Bc.3907A>T (p.Ser1303Cys)
c.3358A>T (p.Ser1120Cys)
c.3031A>T (p.Ser1011Cys)
c.2842A>T (p.Ser948Cys)
n.577-2137T>A
c.*3622-2137T>A (n.*3622-2137T>A)
c.3745A>T (p.Ser1249Cys)
c.2869A>T (p.Ser957Cys)
c.2218A>T (p.Ser740Cys)
c.1822A>T (p.Ser608Cys)
c.1564A>T (p.Ser522Cys)
10g.75028732G>ACA5564921DUSP29,KAT6Bc.3908G>A (p.Ser1303Asn)
c.3359G>A (p.Ser1120Asn)
c.3032G>A (p.Ser1011Asn)
c.2843G>A (p.Ser948Asn)
n.577-2138C>T
c.*3622-2138C>T (n.*3622-2138C>T)
c.3746G>A (p.Ser1249Asn)
c.2870G>A (p.Ser957Asn)
c.2219G>A (p.Ser740Asn)
c.1823G>A (p.Ser608Asn)
c.1565G>A (p.Ser522Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.75028732G>CCA377292555DUSP29,KAT6Bc.3908G>C (p.Ser1303Thr)
c.3359G>C (p.Ser1120Thr)
c.3032G>C (p.Ser1011Thr)
c.2843G>C (p.Ser948Thr)
n.577-2138C>G
c.*3622-2138C>G (n.*3622-2138C>G)
c.3746G>C (p.Ser1249Thr)
c.2870G>C (p.Ser957Thr)
c.2219G>C (p.Ser740Thr)
c.1823G>C (p.Ser608Thr)
c.1565G>C (p.Ser522Thr)
10g.75028732G=CA1920306440DUSP29,KAT6Bc.3908G= (p.Ser1303=)
c.3359G= (p.Ser1120=)
c.3032G= (p.Ser1011=)
c.2843G= (p.Ser948=)
n.577-2138C=
c.*3622-2138C= (n.*3622-2138C=)
c.3746G= (p.Ser1249=)
c.2870G= (p.Ser957=)
c.2219G= (p.Ser740=)
c.1823G= (p.Ser608=)
c.1565G= (p.Ser522=)
10g.75028732G>TCA377292554DUSP29,KAT6Bc.3908G>T (p.Ser1303Ile)
c.3359G>T (p.Ser1120Ile)
c.3032G>T (p.Ser1011Ile)
c.2843G>T (p.Ser948Ile)
n.577-2138C>A
c.*3622-2138C>A (n.*3622-2138C>A)
c.3746G>T (p.Ser1249Ile)
c.2870G>T (p.Ser957Ile)
c.2219G>T (p.Ser740Ile)
c.1823G>T (p.Ser608Ile)
c.1565G>T (p.Ser522Ile)
10g.75028733T>ACA377292556DUSP29,KAT6Bc.3909T>A (p.Ser1303Arg)
c.3360T>A (p.Ser1120Arg)
c.3033T>A (p.Ser1011Arg)
c.2844T>A (p.Ser948Arg)
n.577-2139A>T
c.*3622-2139A>T (n.*3622-2139A>T)
c.3747T>A (p.Ser1249Arg)
c.2871T>A (p.Ser957Arg)
c.2220T>A (p.Ser740Arg)
c.1824T>A (p.Ser608Arg)
c.1566T>A (p.Ser522Arg)
10g.75028733T>CCA470299604DUSP29,KAT6Bc.3909T>C (p.Ser1303=)
c.3360T>C (p.Ser1120=)
c.3033T>C (p.Ser1011=)
c.2844T>C (p.Ser948=)
n.577-2139A>G
c.*3622-2139A>G (n.*3622-2139A>G)
c.3747T>C (p.Ser1249=)
c.2871T>C (p.Ser957=)
c.2220T>C (p.Ser740=)
c.1824T>C (p.Ser608=)
c.1566T>C (p.Ser522=)
10g.75028733T>GCA377292557DUSP29,KAT6Bc.3909T>G (p.Ser1303Arg)
c.3360T>G (p.Ser1120Arg)
c.3033T>G (p.Ser1011Arg)
c.2844T>G (p.Ser948Arg)
n.577-2139A>C
c.*3622-2139A>C (n.*3622-2139A>C)
c.3747T>G (p.Ser1249Arg)
c.2871T>G (p.Ser957Arg)
c.2220T>G (p.Ser740Arg)
c.1824T>G (p.Ser608Arg)
c.1566T>G (p.Ser522Arg)
10g.75028734C>ACA377292558DUSP29,KAT6Bc.3910C>A (p.Pro1304Thr)
c.3361C>A (p.Pro1121Thr)
c.3034C>A (p.Pro1012Thr)
c.2845C>A (p.Pro949Thr)
n.577-2140G>T
c.*3622-2140G>T (n.*3622-2140G>T)
c.3748C>A (p.Pro1250Thr)
c.2872C>A (p.Pro958Thr)
c.2221C>A (p.Pro741Thr)
c.1825C>A (p.Pro609Thr)
c.1567C>A (p.Pro523Thr)
10g.75028734C>GCA377292559DUSP29,KAT6Bc.3910C>G (p.Pro1304Ala)
c.3361C>G (p.Pro1121Ala)
c.3034C>G (p.Pro1012Ala)
c.2845C>G (p.Pro949Ala)
n.577-2140G>C
c.*3622-2140G>C (n.*3622-2140G>C)
c.3748C>G (p.Pro1250Ala)
c.2872C>G (p.Pro958Ala)
c.2221C>G (p.Pro741Ala)
c.1825C>G (p.Pro609Ala)
c.1567C>G (p.Pro523Ala)
10g.75028734C>TCA377292560DUSP29,KAT6Bc.3910C>T (p.Pro1304Ser)
c.3361C>T (p.Pro1121Ser)
c.3034C>T (p.Pro1012Ser)
c.2845C>T (p.Pro949Ser)
n.577-2140G>A
c.*3622-2140G>A (n.*3622-2140G>A)
c.3748C>T (p.Pro1250Ser)
c.2872C>T (p.Pro958Ser)
c.2221C>T (p.Pro741Ser)
c.1825C>T (p.Pro609Ser)
c.1567C>T (p.Pro523Ser)
 gnomAD v4 COSMIC
10g.75028735C>ACA377292561DUSP29,KAT6Bc.3911C>A (p.Pro1304His)
c.3362C>A (p.Pro1121His)
c.3035C>A (p.Pro1012His)
c.2846C>A (p.Pro949His)
n.577-2141G>T
c.*3622-2141G>T (n.*3622-2141G>T)
c.3749C>A (p.Pro1250His)
c.2873C>A (p.Pro958His)
c.2222C>A (p.Pro741His)
c.1826C>A (p.Pro609His)
c.1568C>A (p.Pro523His)
10g.75028735C>GCA377292562DUSP29,KAT6Bc.3911C>G (p.Pro1304Arg)
c.3362C>G (p.Pro1121Arg)
c.3035C>G (p.Pro1012Arg)
c.2846C>G (p.Pro949Arg)
n.577-2141G>C
c.*3622-2141G>C (n.*3622-2141G>C)
c.3749C>G (p.Pro1250Arg)
c.2873C>G (p.Pro958Arg)
c.2222C>G (p.Pro741Arg)
c.1826C>G (p.Pro609Arg)
c.1568C>G (p.Pro523Arg)
10g.75028735C>TCA377292563DUSP29,KAT6Bc.3911C>T (p.Pro1304Leu)
c.3362C>T (p.Pro1121Leu)
c.3035C>T (p.Pro1012Leu)
c.2846C>T (p.Pro949Leu)
n.577-2141G>A
c.*3622-2141G>A (n.*3622-2141G>A)
c.3749C>T (p.Pro1250Leu)
c.2873C>T (p.Pro958Leu)
c.2222C>T (p.Pro741Leu)
c.1826C>T (p.Pro609Leu)
c.1568C>T (p.Pro523Leu)
10g.75028736C>ACA470299608DUSP29,KAT6Bc.3912C>A (p.Pro1304=)
c.3363C>A (p.Pro1121=)
c.3036C>A (p.Pro1012=)
c.2847C>A (p.Pro949=)
n.577-2142G>T
c.*3622-2142G>T (n.*3622-2142G>T)
c.3750C>A (p.Pro1250=)
c.2874C>A (p.Pro958=)
c.2223C>A (p.Pro741=)
c.1827C>A (p.Pro609=)
c.1569C>A (p.Pro523=)
10g.75028736C>GCA470299609DUSP29,KAT6Bc.3912C>G (p.Pro1304=)
c.3363C>G (p.Pro1121=)
c.3036C>G (p.Pro1012=)
c.2847C>G (p.Pro949=)
n.577-2142G>C
c.*3622-2142G>C (n.*3622-2142G>C)
c.3750C>G (p.Pro1250=)
c.2874C>G (p.Pro958=)
c.2223C>G (p.Pro741=)
c.1827C>G (p.Pro609=)
c.1569C>G (p.Pro523=)
 COSMIC
10g.75028736C>TCA470299610DUSP29,KAT6Bc.3912C>T (p.Pro1304=)
c.3363C>T (p.Pro1121=)
c.3036C>T (p.Pro1012=)
c.2847C>T (p.Pro949=)
n.577-2142G>A
c.*3622-2142G>A (n.*3622-2142G>A)
c.3750C>T (p.Pro1250=)
c.2874C>T (p.Pro958=)
c.2223C>T (p.Pro741=)
c.1827C>T (p.Pro609=)
c.1569C>T (p.Pro523=)
 gnomAD v4
10g.75028737A>CCA377292564DUSP29,KAT6Bc.3913A>C (p.Ile1305Leu)
c.3364A>C (p.Ile1122Leu)
c.3037A>C (p.Ile1013Leu)
c.2848A>C (p.Ile950Leu)
n.577-2143T>G
c.*3622-2143T>G (n.*3622-2143T>G)
c.3751A>C (p.Ile1251Leu)
c.2875A>C (p.Ile959Leu)
c.2224A>C (p.Ile742Leu)
c.1828A>C (p.Ile610Leu)
c.1570A>C (p.Ile524Leu)
10g.75028737A>GCA377292565DUSP29,KAT6Bc.3913A>G (p.Ile1305Val)
c.3364A>G (p.Ile1122Val)
c.3037A>G (p.Ile1013Val)
c.2848A>G (p.Ile950Val)
n.577-2143T>C
c.*3622-2143T>C (n.*3622-2143T>C)
c.3751A>G (p.Ile1251Val)
c.2875A>G (p.Ile959Val)
c.2224A>G (p.Ile742Val)
c.1828A>G (p.Ile610Val)
c.1570A>G (p.Ile524Val)
10g.75028737A>TCA377292566DUSP29,KAT6Bc.3913A>T (p.Ile1305Phe)
c.3364A>T (p.Ile1122Phe)
c.3037A>T (p.Ile1013Phe)
c.2848A>T (p.Ile950Phe)
n.577-2143T>A
c.*3622-2143T>A (n.*3622-2143T>A)
c.3751A>T (p.Ile1251Phe)
c.2875A>T (p.Ile959Phe)
c.2224A>T (p.Ile742Phe)
c.1828A>T (p.Ile610Phe)
c.1570A>T (p.Ile524Phe)
10g.75028738T>ACA377292568DUSP29,KAT6Bc.3914T>A (p.Ile1305Asn)
c.3365T>A (p.Ile1122Asn)
c.3038T>A (p.Ile1013Asn)
c.2849T>A (p.Ile950Asn)
n.577-2144A>T
c.*3622-2144A>T (n.*3622-2144A>T)
c.3752T>A (p.Ile1251Asn)
c.2876T>A (p.Ile959Asn)
c.2225T>A (p.Ile742Asn)
c.1829T>A (p.Ile610Asn)
c.1571T>A (p.Ile524Asn)
10g.75028738T>CCA5564922DUSP29,KAT6Bc.3914T>C (p.Ile1305Thr)
c.3365T>C (p.Ile1122Thr)
c.3038T>C (p.Ile1013Thr)
c.2849T>C (p.Ile950Thr)
n.577-2144A>G
c.*3622-2144A>G (n.*3622-2144A>G)
c.3752T>C (p.Ile1251Thr)
c.2876T>C (p.Ile959Thr)
c.2225T>C (p.Ile742Thr)
c.1829T>C (p.Ile610Thr)
c.1571T>C (p.Ile524Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.75028738T>GCA377292567DUSP29,KAT6Bc.3914T>G (p.Ile1305Ser)
c.3365T>G (p.Ile1122Ser)
c.3038T>G (p.Ile1013Ser)
c.2849T>G (p.Ile950Ser)
n.577-2144A>C
c.*3622-2144A>C (n.*3622-2144A>C)
c.3752T>G (p.Ile1251Ser)
c.2876T>G (p.Ile959Ser)
c.2225T>G (p.Ile742Ser)
c.1829T>G (p.Ile610Ser)
c.1571T>G (p.Ile524Ser)
10g.75028738T=CA1920306441DUSP29,KAT6Bc.3914T= (p.Ile1305=)
c.3365T= (p.Ile1122=)
c.3038T= (p.Ile1013=)
c.2849T= (p.Ile950=)
n.577-2144A=
c.*3622-2144A= (n.*3622-2144A=)
c.3752T= (p.Ile1251=)
c.2876T= (p.Ile959=)
c.2225T= (p.Ile742=)
c.1829T= (p.Ile610=)
c.1571T= (p.Ile524=)
10g.75028739C>ACA470299612DUSP29,KAT6Bc.3915C>A (p.Ile1305=)
c.3366C>A (p.Ile1122=)
c.3039C>A (p.Ile1013=)
c.2850C>A (p.Ile950=)
n.577-2145G>T
c.*3622-2145G>T (n.*3622-2145G>T)
c.3753C>A (p.Ile1251=)
c.2877C>A (p.Ile959=)
c.2226C>A (p.Ile742=)
c.1830C>A (p.Ile610=)
c.1572C>A (p.Ile524=)
10g.75028739C>GCA377292569DUSP29,KAT6Bc.3915C>G (p.Ile1305Met)
c.3366C>G (p.Ile1122Met)
c.3039C>G (p.Ile1013Met)
c.2850C>G (p.Ile950Met)
n.577-2145G>C
c.*3622-2145G>C (n.*3622-2145G>C)
c.3753C>G (p.Ile1251Met)
c.2877C>G (p.Ile959Met)
c.2226C>G (p.Ile742Met)
c.1830C>G (p.Ile610Met)
c.1572C>G (p.Ile524Met)
10g.75028739C>TCA470299613DUSP29,KAT6Bc.3915C>T (p.Ile1305=)
c.3366C>T (p.Ile1122=)
c.3039C>T (p.Ile1013=)
c.2850C>T (p.Ile950=)
n.577-2145G>A
c.*3622-2145G>A (n.*3622-2145G>A)
c.3753C>T (p.Ile1251=)
c.2877C>T (p.Ile959=)
c.2226C>T (p.Ile742=)
c.1830C>T (p.Ile610=)
c.1572C>T (p.Ile524=)
10g.75028739dupCA2695212200DUSP29,KAT6Bc.3915dup (p.Arg1306GlnfsTer3)
c.3366dup (p.Arg1123GlnfsTer3)
c.3039dup (p.Arg1014GlnfsTer3)
c.2850dup (p.Arg951GlnfsTer3)
n.577-2145dup
c.*3622-2145dup (n.*3622-2145dup)
c.3753dup (p.Arg1252GlnfsTer3)
c.2877dup (p.Arg960GlnfsTer3)
c.2226dup (p.Arg743GlnfsTer3)
c.1830dup (p.Arg611GlnfsTer3)
c.1572dup (p.Arg525GlnfsTer3)
10g.75028742_75028743insCAACAGGCA2695212199DUSP29,KAT6Bc.3918_3919insCAACAGG (p.Ile1307GlnfsTer4)
c.3369_3370insCAACAGG (p.Ile1124GlnfsTer4)
c.3042_3043insCAACAGG (p.Ile1015GlnfsTer4)
c.2853_2854insCAACAGG (p.Ile952GlnfsTer4)
n.577-2145_577-2144insTTGCCTG
c.*3622-2145_*3622-2144insTTGCCTG (n.*3622-2145_*3622-2144insTTGCCTG)
c.3756_3757insCAACAGG (p.Ile1253GlnfsTer4)
c.2880_2881insCAACAGG (p.Ile961GlnfsTer4)
c.2229_2230insCAACAGG (p.Ile744GlnfsTer4)
c.1833_1834insCAACAGG (p.Ile612GlnfsTer4)
c.1575_1576insCAACAGG (p.Ile526GlnfsTer4)
10g.75028740A=CA1920306443DUSP29,KAT6Bc.3916A= (p.Arg1306=)
c.3367A= (p.Arg1123=)
c.3040A= (p.Arg1014=)
c.2851A= (p.Arg951=)
n.577-2146T=
c.*3622-2146T= (n.*3622-2146T=)
c.3754A= (p.Arg1252=)
c.2878A= (p.Arg960=)
c.2227A= (p.Arg743=)
c.1831A= (p.Arg611=)
c.1573A= (p.Arg525=)
10g.75028740A>CCA470299616DUSP29,KAT6Bc.3916A>C (p.Arg1306=)
c.3367A>C (p.Arg1123=)
c.3040A>C (p.Arg1014=)
c.2851A>C (p.Arg951=)
n.577-2146T>G
c.*3622-2146T>G (n.*3622-2146T>G)
c.3754A>C (p.Arg1252=)
c.2878A>C (p.Arg960=)
c.2227A>C (p.Arg743=)
c.1831A>C (p.Arg611=)
c.1573A>C (p.Arg525=)
10g.75028740A>GCA377292571DUSP29,KAT6Bc.3916A>G (p.Arg1306Gly)
c.3367A>G (p.Arg1123Gly)
c.3040A>G (p.Arg1014Gly)
c.2851A>G (p.Arg951Gly)
n.577-2146T>C
c.*3622-2146T>C (n.*3622-2146T>C)
c.3754A>G (p.Arg1252Gly)
c.2878A>G (p.Arg960Gly)
c.2227A>G (p.Arg743Gly)
c.1831A>G (p.Arg611Gly)
c.1573A>G (p.Arg525Gly)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.75028740A>TCA377292570DUSP29,KAT6Bc.3916A>T (p.Arg1306Trp)
c.3367A>T (p.Arg1123Trp)
c.3040A>T (p.Arg1014Trp)
c.2851A>T (p.Arg951Trp)
n.577-2146T>A
c.*3622-2146T>A (n.*3622-2146T>A)
c.3754A>T (p.Arg1252Trp)
c.2878A>T (p.Arg960Trp)
c.2227A>T (p.Arg743Trp)
c.1831A>T (p.Arg611Trp)
c.1573A>T (p.Arg525Trp)
 COSMIC
10g.75028740_75028741delinsAGCA1920306442DUSP29,KAT6Bc.3916_3917delinsAG (p.Arg1306=)
c.3367_3368delinsAG (p.Arg1123=)
c.3040_3041delinsAG (p.Arg1014=)
c.2851_2852delinsAG (p.Arg951=)
n.577-2147_577-2146delinsCT
c.*3622-2147_*3622-2146delinsCT (n.*3622-2147_*3622-2146delinsCT)
c.3754_3755delinsAG (p.Arg1252=)
c.2878_2879delinsAG (p.Arg960=)
c.2227_2228delinsAG (p.Arg743=)
c.1831_1832delinsAG (p.Arg611=)
c.1573_1574delinsAG (p.Arg525=)
10g.75028741G>ACA377292574DUSP29,KAT6Bc.3917G>A (p.Arg1306Lys)
c.3368G>A (p.Arg1123Lys)
c.3041G>A (p.Arg1014Lys)
c.2852G>A (p.Arg951Lys)
n.577-2147C>T
c.*3622-2147C>T (n.*3622-2147C>T)
c.3755G>A (p.Arg1252Lys)
c.2879G>A (p.Arg960Lys)
c.2228G>A (p.Arg743Lys)
c.1832G>A (p.Arg611Lys)
c.1574G>A (p.Arg525Lys)
10g.75028741G>CCA377292572DUSP29,KAT6Bc.3917G>C (p.Arg1306Thr)
c.3368G>C (p.Arg1123Thr)
c.3041G>C (p.Arg1014Thr)
c.2852G>C (p.Arg951Thr)
n.577-2147C>G
c.*3622-2147C>G (n.*3622-2147C>G)
c.3755G>C (p.Arg1252Thr)
c.2879G>C (p.Arg960Thr)
c.2228G>C (p.Arg743Thr)
c.1832G>C (p.Arg611Thr)
c.1574G>C (p.Arg525Thr)
10g.75028741G>TCA377292573DUSP29,KAT6Bc.3917G>T (p.Arg1306Met)
c.3368G>T (p.Arg1123Met)
c.3041G>T (p.Arg1014Met)
c.2852G>T (p.Arg951Met)
n.577-2147C>A
c.*3622-2147C>A (n.*3622-2147C>A)
c.3755G>T (p.Arg1252Met)
c.2879G>T (p.Arg960Met)
c.2228G>T (p.Arg743Met)
c.1832G>T (p.Arg611Met)
c.1574G>T (p.Arg525Met)
10g.75028742delCA10603153DUSP29,KAT6Bc.3918del (p.Ile1307LeufsTer27)
c.3369del (p.Ile1124LeufsTer27)
c.3042del (p.Ile1015LeufsTer27)
c.2853del (p.Ile952LeufsTer27)
n.577-2147del
c.*3622-2147del (n.*3622-2147del)
c.3756del (p.Ile1253LeufsTer27)
c.2880del (p.Ile961LeufsTer27)
c.2229del (p.Ile744LeufsTer27)
c.1833del (p.Ile612LeufsTer27)
c.1575del (p.Ile526LeufsTer27)
 ClinVar dbSNP
10g.75028742G>ACA470299618DUSP29,KAT6Bc.3918G>A (p.Arg1306=)
c.3369G>A (p.Arg1123=)
c.3042G>A (p.Arg1014=)
c.2853G>A (p.Arg951=)
n.577-2148C>T
c.*3622-2148C>T (n.*3622-2148C>T)
c.3756G>A (p.Arg1252=)
c.2880G>A (p.Arg960=)
c.2229G>A (p.Arg743=)
c.1833G>A (p.Arg611=)
c.1575G>A (p.Arg525=)
 ClinVar
10g.75028742G>CCA377292575DUSP29,KAT6Bc.3918G>C (p.Arg1306Ser)
c.3369G>C (p.Arg1123Ser)
c.3042G>C (p.Arg1014Ser)
c.2853G>C (p.Arg951Ser)
n.577-2148C>G
c.*3622-2148C>G (n.*3622-2148C>G)
c.3756G>C (p.Arg1252Ser)
c.2880G>C (p.Arg960Ser)
c.2229G>C (p.Arg743Ser)
c.1833G>C (p.Arg611Ser)
c.1575G>C (p.Arg525Ser)
10g.75028742G>TCA377292576DUSP29,KAT6Bc.3918G>T (p.Arg1306Ser)
c.3369G>T (p.Arg1123Ser)
c.3042G>T (p.Arg1014Ser)
c.2853G>T (p.Arg951Ser)
n.577-2148C>A
c.*3622-2148C>A (n.*3622-2148C>A)
c.3756G>T (p.Arg1252Ser)
c.2880G>T (p.Arg960Ser)
c.2229G>T (p.Arg743Ser)
c.1833G>T (p.Arg611Ser)
c.1575G>T (p.Arg525Ser)
10g.75028743A=CA1920306444DUSP29,KAT6Bc.3919A= (p.Ile1307=)
c.3370A= (p.Ile1124=)
c.3043A= (p.Ile1015=)
c.2854A= (p.Ile952=)
n.577-2149T=
c.*3622-2149T= (n.*3622-2149T=)
c.3757A= (p.Ile1253=)
c.2881A= (p.Ile961=)
c.2230A= (p.Ile744=)
c.1834A= (p.Ile612=)
c.1576A= (p.Ile526=)
10g.75028743A>CCA377292577DUSP29,KAT6Bc.3919A>C (p.Ile1307Leu)
c.3370A>C (p.Ile1124Leu)
c.3043A>C (p.Ile1015Leu)
c.2854A>C (p.Ile952Leu)
n.577-2149T>G
c.*3622-2149T>G (n.*3622-2149T>G)
c.3757A>C (p.Ile1253Leu)
c.2881A>C (p.Ile961Leu)
c.2230A>C (p.Ile744Leu)
c.1834A>C (p.Ile612Leu)
c.1576A>C (p.Ile526Leu)
10g.75028743A>GCA377292578DUSP29,KAT6Bc.3919A>G (p.Ile1307Val)
c.3370A>G (p.Ile1124Val)
c.3043A>G (p.Ile1015Val)
c.2854A>G (p.Ile952Val)
n.577-2149T>C
c.*3622-2149T>C (n.*3622-2149T>C)
c.3757A>G (p.Ile1253Val)
c.2881A>G (p.Ile961Val)
c.2230A>G (p.Ile744Val)
c.1834A>G (p.Ile612Val)
c.1576A>G (p.Ile526Val)
 dbSNP gnomAD v2 gnomAD v4
10g.75028743A>TCA377292579DUSP29,KAT6Bc.3919A>T (p.Ile1307Phe)
c.3370A>T (p.Ile1124Phe)
c.3043A>T (p.Ile1015Phe)
c.2854A>T (p.Ile952Phe)
n.577-2149T>A
c.*3622-2149T>A (n.*3622-2149T>A)
c.3757A>T (p.Ile1253Phe)
c.2881A>T (p.Ile961Phe)
c.2230A>T (p.Ile744Phe)
c.1834A>T (p.Ile612Phe)
c.1576A>T (p.Ile526Phe)
10g.75028744T>ACA377292580DUSP29,KAT6Bc.3920T>A (p.Ile1307Asn)
c.3371T>A (p.Ile1124Asn)
c.3044T>A (p.Ile1015Asn)
c.2855T>A (p.Ile952Asn)
n.577-2150A>T
c.*3622-2150A>T (n.*3622-2150A>T)
c.3758T>A (p.Ile1253Asn)
c.2882T>A (p.Ile961Asn)
c.2231T>A (p.Ile744Asn)
c.1835T>A (p.Ile612Asn)
c.1577T>A (p.Ile526Asn)
10g.75028744T>CCA377292581DUSP29,KAT6Bc.3920T>C (p.Ile1307Thr)
c.3371T>C (p.Ile1124Thr)
c.3044T>C (p.Ile1015Thr)
c.2855T>C (p.Ile952Thr)
n.577-2150A>G
c.*3622-2150A>G (n.*3622-2150A>G)
c.3758T>C (p.Ile1253Thr)
c.2882T>C (p.Ile961Thr)
c.2231T>C (p.Ile744Thr)
c.1835T>C (p.Ile612Thr)
c.1577T>C (p.Ile526Thr)
 dbSNP
10g.75028744T>GCA377292582DUSP29,KAT6Bc.3920T>G (p.Ile1307Ser)
c.3371T>G (p.Ile1124Ser)
c.3044T>G (p.Ile1015Ser)
c.2855T>G (p.Ile952Ser)
n.577-2150A>C
c.*3622-2150A>C (n.*3622-2150A>C)
c.3758T>G (p.Ile1253Ser)
c.2882T>G (p.Ile961Ser)
c.2231T>G (p.Ile744Ser)
c.1835T>G (p.Ile612Ser)
c.1577T>G (p.Ile526Ser)
10g.75028745T>ACA470299620DUSP29,KAT6Bc.3921T>A (p.Ile1307=)
c.3372T>A (p.Ile1124=)
c.3045T>A (p.Ile1015=)
c.2856T>A (p.Ile952=)
n.577-2151A>T
c.*3622-2151A>T (n.*3622-2151A>T)
c.3759T>A (p.Ile1253=)
c.2883T>A (p.Ile961=)
c.2232T>A (p.Ile744=)
c.1836T>A (p.Ile612=)
c.1578T>A (p.Ile526=)
10g.75028745T>CCA470299621DUSP29,KAT6Bc.3921T>C (p.Ile1307=)
c.3372T>C (p.Ile1124=)
c.3045T>C (p.Ile1015=)
c.2856T>C (p.Ile952=)
n.577-2151A>G
c.*3622-2151A>G (n.*3622-2151A>G)
c.3759T>C (p.Ile1253=)
c.2883T>C (p.Ile961=)
c.2232T>C (p.Ile744=)
c.1836T>C (p.Ile612=)
c.1578T>C (p.Ile526=)
10g.75028745T>GCA377292583DUSP29,KAT6Bc.3921T>G (p.Ile1307Met)
c.3372T>G (p.Ile1124Met)
c.3045T>G (p.Ile1015Met)
c.2856T>G (p.Ile952Met)
n.577-2151A>C
c.*3622-2151A>C (n.*3622-2151A>C)
c.3759T>G (p.Ile1253Met)
c.2883T>G (p.Ile961Met)
c.2232T>G (p.Ile744Met)
c.1836T>G (p.Ile612Met)
c.1578T>G (p.Ile526Met)
10g.75028745_75028748delinsTGAGCA1920306445DUSP29,KAT6Bc.3921_3924delinsTGAG (p.Ile1307=)
c.3372_3375delinsTGAG (p.Ile1124=)
c.3045_3048delinsTGAG (p.Ile1015=)
c.2856_2859delinsTGAG (p.Ile952=)
n.577-2154_577-2151delinsCTCA
c.*3622-2154_*3622-2151delinsCTCA (n.*3622-2154_*3622-2151delinsCTCA)
c.3759_3762delinsTGAG (p.Ile1253=)
c.2883_2886delinsTGAG (p.Ile961=)
c.2232_2235delinsTGAG (p.Ile744=)
c.1836_1839delinsTGAG (p.Ile612=)
c.1578_1581delinsTGAG (p.Ile526=)
10g.75028746G>ACA377292586DUSP29,KAT6Bc.3922G>A (p.Glu1308Lys)
c.3373G>A (p.Glu1125Lys)
c.3046G>A (p.Glu1016Lys)
c.2857G>A (p.Glu953Lys)
n.577-2152C>T
c.*3622-2152C>T (n.*3622-2152C>T)
c.3760G>A (p.Glu1254Lys)
c.2884G>A (p.Glu962Lys)
c.2233G>A (p.Glu745Lys)
c.1837G>A (p.Glu613Lys)
c.1579G>A (p.Glu527Lys)
10g.75028746G>CCA377292585DUSP29,KAT6Bc.3922G>C (p.Glu1308Gln)
c.3373G>C (p.Glu1125Gln)
c.3046G>C (p.Glu1016Gln)
c.2857G>C (p.Glu953Gln)
n.577-2152C>G
c.*3622-2152C>G (n.*3622-2152C>G)
c.3760G>C (p.Glu1254Gln)
c.2884G>C (p.Glu962Gln)
c.2233G>C (p.Glu745Gln)
c.1837G>C (p.Glu613Gln)
c.1579G>C (p.Glu527Gln)
10g.75028746G>TCA377292584DUSP29,KAT6Bc.3922G>T (p.Glu1308Ter)
c.3373G>T (p.Glu1125Ter)
c.3046G>T (p.Glu1016Ter)
c.2857G>T (p.Glu953Ter)
n.577-2152C>A
c.*3622-2152C>A (n.*3622-2152C>A)
c.3760G>T (p.Glu1254Ter)
c.2884G>T (p.Glu962Ter)
c.2233G>T (p.Glu745Ter)
c.1837G>T (p.Glu613Ter)
c.1579G>T (p.Glu527Ter)
 gnomAD v4
10g.75028753_75028755delCA5564923DUSP29,KAT6Bc.3929_3931del (p.Glu1310del)
c.3380_3382del (p.Glu1127del)
c.3053_3055del (p.Glu1018del)
c.2864_2866del (p.Glu955del)
n.577-2154_577-2152del
c.*3622-2154_*3622-2152del (n.*3622-2154_*3622-2152del)
c.3767_3769del (p.Glu1256del)
c.2891_2893del (p.Glu964del)
c.2240_2242del (p.Glu747del)
c.1844_1846del (p.Glu615del)
c.1586_1588del (p.Glu529del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
10g.75028747A>CCA377292587DUSP29,KAT6Bc.3923A>C (p.Glu1308Ala)
c.3374A>C (p.Glu1125Ala)
c.3047A>C (p.Glu1016Ala)
c.2858A>C (p.Glu953Ala)
n.577-2153T>G
c.*3622-2153T>G (n.*3622-2153T>G)
c.3761A>C (p.Glu1254Ala)
c.2885A>C (p.Glu962Ala)
c.2234A>C (p.Glu745Ala)
c.1838A>C (p.Glu613Ala)
c.1580A>C (p.Glu527Ala)
10g.75028747A>GCA377292588DUSP29,KAT6Bc.3923A>G (p.Glu1308Gly)
c.3374A>G (p.Glu1125Gly)
c.3047A>G (p.Glu1016Gly)
c.2858A>G (p.Glu953Gly)
n.577-2153T>C
c.*3622-2153T>C (n.*3622-2153T>C)
c.3761A>G (p.Glu1254Gly)
c.2885A>G (p.Glu962Gly)
c.2234A>G (p.Glu745Gly)
c.1838A>G (p.Glu613Gly)
c.1580A>G (p.Glu527Gly)
10g.75028747A>TCA377292589DUSP29,KAT6Bc.3923A>T (p.Glu1308Val)
c.3374A>T (p.Glu1125Val)
c.3047A>T (p.Glu1016Val)
c.2858A>T (p.Glu953Val)
n.577-2153T>A
c.*3622-2153T>A (n.*3622-2153T>A)
c.3761A>T (p.Glu1254Val)
c.2885A>T (p.Glu962Val)
c.2234A>T (p.Glu745Val)
c.1838A>T (p.Glu613Val)
c.1580A>T (p.Glu527Val)
10g.75028748G>ACA470299623DUSP29,KAT6Bc.3924G>A (p.Glu1308=)
c.3375G>A (p.Glu1125=)
c.3048G>A (p.Glu1016=)
c.2859G>A (p.Glu953=)
n.577-2154C>T
c.*3622-2154C>T (n.*3622-2154C>T)
c.3762G>A (p.Glu1254=)
c.2886G>A (p.Glu962=)
c.2235G>A (p.Glu745=)
c.1839G>A (p.Glu613=)
c.1581G>A (p.Glu527=)
 dbSNP
10g.75028748G>CCA377292590DUSP29,KAT6Bc.3924G>C (p.Glu1308Asp)
c.3375G>C (p.Glu1125Asp)
c.3048G>C (p.Glu1016Asp)
c.2859G>C (p.Glu953Asp)
n.577-2154C>G
c.*3622-2154C>G (n.*3622-2154C>G)
c.3762G>C (p.Glu1254Asp)
c.2886G>C (p.Glu962Asp)
c.2235G>C (p.Glu745Asp)
c.1839G>C (p.Glu613Asp)
c.1581G>C (p.Glu527Asp)
10g.75028748G>TCA377292591DUSP29,KAT6Bc.3924G>T (p.Glu1308Asp)
c.3375G>T (p.Glu1125Asp)
c.3048G>T (p.Glu1016Asp)
c.2859G>T (p.Glu953Asp)
n.577-2154C>A
c.*3622-2154C>A (n.*3622-2154C>A)
c.3762G>T (p.Glu1254Asp)
c.2886G>T (p.Glu962Asp)
c.2235G>T (p.Glu745Asp)
c.1839G>T (p.Glu613Asp)
c.1581G>T (p.Glu527Asp)
10g.75028749dupCA2695212201DUSP29,KAT6Bc.3925dup (p.Glu1309GlyfsTer?)
c.3376dup (p.Glu1126GlyfsTer?)
c.3049dup (p.Glu1017GlyfsTer?)
c.2860dup (p.Glu954GlyfsTer?)
n.577-2154dup
c.*3622-2154dup (n.*3622-2154dup)
c.3763dup (p.Glu1255GlyfsTer?)
c.2887dup (p.Glu963GlyfsTer?)
c.2236dup (p.Glu746GlyfsTer?)
c.1840dup (p.Glu614GlyfsTer?)
c.1582dup (p.Glu528GlyfsTer?)
10g.75028749G>ACA377292593DUSP29,KAT6Bc.3925G>A (p.Glu1309Lys)
c.3376G>A (p.Glu1126Lys)
c.3049G>A (p.Glu1017Lys)
c.2860G>A (p.Glu954Lys)
n.577-2155C>T
c.*3622-2155C>T (n.*3622-2155C>T)
c.3763G>A (p.Glu1255Lys)
c.2887G>A (p.Glu963Lys)
c.2236G>A (p.Glu746Lys)
c.1840G>A (p.Glu614Lys)
c.1582G>A (p.Glu528Lys)
 gnomAD v4
10g.75028749G>CCA377292595DUSP29,KAT6Bc.3925G>C (p.Glu1309Gln)
c.3376G>C (p.Glu1126Gln)
c.3049G>C (p.Glu1017Gln)
c.2860G>C (p.Glu954Gln)
n.577-2155C>G
c.*3622-2155C>G (n.*3622-2155C>G)
c.3763G>C (p.Glu1255Gln)
c.2887G>C (p.Glu963Gln)
c.2236G>C (p.Glu746Gln)
c.1840G>C (p.Glu614Gln)
c.1582G>C (p.Glu528Gln)
10g.75028749G>TCA377292597DUSP29,KAT6Bc.3925G>T (p.Glu1309Ter)
c.3376G>T (p.Glu1126Ter)
c.3049G>T (p.Glu1017Ter)
c.2860G>T (p.Glu954Ter)
n.577-2155C>A
c.*3622-2155C>A (n.*3622-2155C>A)
c.3763G>T (p.Glu1255Ter)
c.2887G>T (p.Glu963Ter)
c.2236G>T (p.Glu746Ter)
c.1840G>T (p.Glu614Ter)
c.1582G>T (p.Glu528Ter)
10g.75028750A>CCA377292599DUSP29,KAT6Bc.3926A>C (p.Glu1309Ala)
c.3377A>C (p.Glu1126Ala)
c.3050A>C (p.Glu1017Ala)
c.2861A>C (p.Glu954Ala)
n.577-2156T>G
c.*3622-2156T>G (n.*3622-2156T>G)
c.3764A>C (p.Glu1255Ala)
c.2888A>C (p.Glu963Ala)
c.2237A>C (p.Glu746Ala)
c.1841A>C (p.Glu614Ala)
c.1583A>C (p.Glu528Ala)
10g.75028750A>GCA377292601DUSP29,KAT6Bc.3926A>G (p.Glu1309Gly)
c.3377A>G (p.Glu1126Gly)
c.3050A>G (p.Glu1017Gly)
c.2861A>G (p.Glu954Gly)
n.577-2156T>C
c.*3622-2156T>C (n.*3622-2156T>C)
c.3764A>G (p.Glu1255Gly)
c.2888A>G (p.Glu963Gly)
c.2237A>G (p.Glu746Gly)
c.1841A>G (p.Glu614Gly)
c.1583A>G (p.Glu528Gly)
10g.75028750A>TCA377292603DUSP29,KAT6Bc.3926A>T (p.Glu1309Val)
c.3377A>T (p.Glu1126Val)
c.3050A>T (p.Glu1017Val)
c.2861A>T (p.Glu954Val)
n.577-2156T>A
c.*3622-2156T>A (n.*3622-2156T>A)
c.3764A>T (p.Glu1255Val)
c.2888A>T (p.Glu963Val)
c.2237A>T (p.Glu746Val)
c.1841A>T (p.Glu614Val)
c.1583A>T (p.Glu528Val)
10g.75028751G>ACA470299625DUSP29,KAT6Bc.3927G>A (p.Glu1309=)
c.3378G>A (p.Glu1126=)
c.3051G>A (p.Glu1017=)
c.2862G>A (p.Glu954=)
n.577-2157C>T
c.*3622-2157C>T (n.*3622-2157C>T)
c.3765G>A (p.Glu1255=)
c.2889G>A (p.Glu963=)
c.2238G>A (p.Glu746=)
c.1842G>A (p.Glu614=)
c.1584G>A (p.Glu528=)
10g.75028751G>CCA377292605DUSP29,KAT6Bc.3927G>C (p.Glu1309Asp)
c.3378G>C (p.Glu1126Asp)
c.3051G>C (p.Glu1017Asp)
c.2862G>C (p.Glu954Asp)
n.577-2157C>G
c.*3622-2157C>G (n.*3622-2157C>G)
c.3765G>C (p.Glu1255Asp)
c.2889G>C (p.Glu963Asp)
c.2238G>C (p.Glu746Asp)
c.1842G>C (p.Glu614Asp)
c.1584G>C (p.Glu528Asp)
10g.75028751G>TCA377292607DUSP29,KAT6Bc.3927G>T (p.Glu1309Asp)
c.3378G>T (p.Glu1126Asp)
c.3051G>T (p.Glu1017Asp)
c.2862G>T (p.Glu954Asp)
n.577-2157C>A
c.*3622-2157C>A (n.*3622-2157C>A)
c.3765G>T (p.Glu1255Asp)
c.2889G>T (p.Glu963Asp)
c.2238G>T (p.Glu746Asp)
c.1842G>T (p.Glu614Asp)
c.1584G>T (p.Glu528Asp)
10g.75028752G>ACA377292609DUSP29,KAT6Bc.3928G>A (p.Glu1310Lys)
c.3379G>A (p.Glu1127Lys)
c.3052G>A (p.Glu1018Lys)
c.2863G>A (p.Glu955Lys)
n.577-2158C>T
c.*3622-2158C>T (n.*3622-2158C>T)
c.3766G>A (p.Glu1256Lys)
c.2890G>A (p.Glu964Lys)
c.2239G>A (p.Glu747Lys)
c.1843G>A (p.Glu615Lys)
c.1585G>A (p.Glu529Lys)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.75028752G>CCA5564924DUSP29,KAT6Bc.3928G>C (p.Glu1310Gln)
c.3379G>C (p.Glu1127Gln)
c.3052G>C (p.Glu1018Gln)
c.2863G>C (p.Glu955Gln)
n.577-2158C>G
c.*3622-2158C>G (n.*3622-2158C>G)
c.3766G>C (p.Glu1256Gln)
c.2890G>C (p.Glu964Gln)
c.2239G>C (p.Glu747Gln)
c.1843G>C (p.Glu615Gln)
c.1585G>C (p.Glu529Gln)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.75028752G=CA1920306446DUSP29,KAT6Bc.3928G= (p.Glu1310=)
c.3379G= (p.Glu1127=)
c.3052G= (p.Glu1018=)
c.2863G= (p.Glu955=)
n.577-2158C=
c.*3622-2158C= (n.*3622-2158C=)
c.3766G= (p.Glu1256=)
c.2890G= (p.Glu964=)
c.2239G= (p.Glu747=)
c.1843G= (p.Glu615=)
c.1585G= (p.Glu529=)
10g.75028752G>TCA377292611DUSP29,KAT6Bc.3928G>T (p.Glu1310Ter)
c.3379G>T (p.Glu1127Ter)
c.3052G>T (p.Glu1018Ter)
c.2863G>T (p.Glu955Ter)
n.577-2158C>A
c.*3622-2158C>A (n.*3622-2158C>A)
c.3766G>T (p.Glu1256Ter)
c.2890G>T (p.Glu964Ter)
c.2239G>T (p.Glu747Ter)
c.1843G>T (p.Glu615Ter)
c.1585G>T (p.Glu529Ter)
10g.75028753A=CA1920306447DUSP29,KAT6Bc.3929A= (p.Glu1310=)
c.3380A= (p.Glu1127=)
c.3053A= (p.Glu1018=)
c.2864A= (p.Glu955=)
n.577-2159T=
c.*3622-2159T= (n.*3622-2159T=)
c.3767A= (p.Glu1256=)
c.2891A= (p.Glu964=)
c.2240A= (p.Glu747=)
c.1844A= (p.Glu615=)
c.1586A= (p.Glu529=)
10g.75028753A>CCA377292613DUSP29,KAT6Bc.3929A>C (p.Glu1310Ala)
c.3380A>C (p.Glu1127Ala)
c.3053A>C (p.Glu1018Ala)
c.2864A>C (p.Glu955Ala)
n.577-2159T>G
c.*3622-2159T>G (n.*3622-2159T>G)
c.3767A>C (p.Glu1256Ala)
c.2891A>C (p.Glu964Ala)
c.2240A>C (p.Glu747Ala)
c.1844A>C (p.Glu615Ala)
c.1586A>C (p.Glu529Ala)
10g.75028753A>GCA377292615DUSP29,KAT6Bc.3929A>G (p.Glu1310Gly)
c.3380A>G (p.Glu1127Gly)
c.3053A>G (p.Glu1018Gly)
c.2864A>G (p.Glu955Gly)
n.577-2159T>C
c.*3622-2159T>C (n.*3622-2159T>C)
c.3767A>G (p.Glu1256Gly)
c.2891A>G (p.Glu964Gly)
c.2240A>G (p.Glu747Gly)
c.1844A>G (p.Glu615Gly)
c.1586A>G (p.Glu529Gly)
10g.75028753A>TCA377292616DUSP29,KAT6Bc.3929A>T (p.Glu1310Val)
c.3380A>T (p.Glu1127Val)
c.3053A>T (p.Glu1018Val)
c.2864A>T (p.Glu955Val)
n.577-2159T>A
c.*3622-2159T>A (n.*3622-2159T>A)
c.3767A>T (p.Glu1256Val)
c.2891A>T (p.Glu964Val)
c.2240A>T (p.Glu747Val)
c.1844A>T (p.Glu615Val)
c.1586A>T (p.Glu529Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.75028754G>ACA470299627DUSP29,KAT6Bc.3930G>A (p.Glu1310=)
c.3381G>A (p.Glu1127=)
c.3054G>A (p.Glu1018=)
c.2865G>A (p.Glu955=)
n.577-2160C>T
c.*3622-2160C>T (n.*3622-2160C>T)
c.3768G>A (p.Glu1256=)
c.2892G>A (p.Glu964=)
c.2241G>A (p.Glu747=)
c.1845G>A (p.Glu615=)
c.1587G>A (p.Glu529=)
 gnomAD v4
10g.75028754G>CCA377292620DUSP29,KAT6Bc.3930G>C (p.Glu1310Asp)
c.3381G>C (p.Glu1127Asp)
c.3054G>C (p.Glu1018Asp)
c.2865G>C (p.Glu955Asp)
n.577-2160C>G
c.*3622-2160C>G (n.*3622-2160C>G)
c.3768G>C (p.Glu1256Asp)
c.2892G>C (p.Glu964Asp)
c.2241G>C (p.Glu747Asp)
c.1845G>C (p.Glu615Asp)
c.1587G>C (p.Glu529Asp)
 dbSNP gnomAD v3 gnomAD v4
10g.75028754G=CA1920306448DUSP29,KAT6Bc.3930G= (p.Glu1310=)
c.3381G= (p.Glu1127=)
c.3054G= (p.Glu1018=)
c.2865G= (p.Glu955=)
n.577-2160C=
c.*3622-2160C= (n.*3622-2160C=)
c.3768G= (p.Glu1256=)
c.2892G= (p.Glu964=)
c.2241G= (p.Glu747=)
c.1845G= (p.Glu615=)
c.1587G= (p.Glu529=)
10g.75028754G>TCA377292619DUSP29,KAT6Bc.3930G>T (p.Glu1310Asp)
c.3381G>T (p.Glu1127Asp)
c.3054G>T (p.Glu1018Asp)
c.2865G>T (p.Glu955Asp)
n.577-2160C>A
c.*3622-2160C>A (n.*3622-2160C>A)
c.3768G>T (p.Glu1256Asp)
c.2892G>T (p.Glu964Asp)
c.2241G>T (p.Glu747Asp)
c.1845G>T (p.Glu615Asp)
c.1587G>T (p.Glu529Asp)
10g.75028755G>ACA377292622DUSP29,KAT6Bc.3931G>A (p.Val1311Ile)
c.3382G>A (p.Val1128Ile)
c.3055G>A (p.Val1019Ile)
c.2866G>A (p.Val956Ile)
n.577-2161C>T
c.*3622-2161C>T (n.*3622-2161C>T)
c.3769G>A (p.Val1257Ile)
c.2893G>A (p.Val965Ile)
c.2242G>A (p.Val748Ile)
c.1846G>A (p.Val616Ile)
c.1588G>A (p.Val530Ile)
 dbSNP gnomAD v3 gnomAD v4
10g.75028755G>CCA377292624DUSP29,KAT6Bc.3931G>C (p.Val1311Leu)
c.3382G>C (p.Val1128Leu)
c.3055G>C (p.Val1019Leu)
c.2866G>C (p.Val956Leu)
n.577-2161C>G
c.*3622-2161C>G (n.*3622-2161C>G)
c.3769G>C (p.Val1257Leu)
c.2893G>C (p.Val965Leu)
c.2242G>C (p.Val748Leu)
c.1846G>C (p.Val616Leu)
c.1588G>C (p.Val530Leu)
10g.75028755G=CA1920306449DUSP29,KAT6Bc.3931G= (p.Val1311=)
c.3382G= (p.Val1128=)
c.3055G= (p.Val1019=)
c.2866G= (p.Val956=)
n.577-2161C=
c.*3622-2161C= (n.*3622-2161C=)
c.3769G= (p.Val1257=)
c.2893G= (p.Val965=)
c.2242G= (p.Val748=)
c.1846G= (p.Val616=)
c.1588G= (p.Val530=)
10g.75028755G>TCA5564925DUSP29,KAT6Bc.3931G>T (p.Val1311Phe)
c.3382G>T (p.Val1128Phe)
c.3055G>T (p.Val1019Phe)
c.2866G>T (p.Val956Phe)
n.577-2161C>A
c.*3622-2161C>A (n.*3622-2161C>A)
c.3769G>T (p.Val1257Phe)
c.2893G>T (p.Val965Phe)
c.2242G>T (p.Val748Phe)
c.1846G>T (p.Val616Phe)
c.1588G>T (p.Val530Phe)
 dbSNP ExAC gnomAD v3 gnomAD v4
10g.75028756T>ACA377292627DUSP29,KAT6Bc.3932T>A (p.Val1311Asp)
c.3383T>A (p.Val1128Asp)
c.3056T>A (p.Val1019Asp)
c.2867T>A (p.Val956Asp)
n.577-2162A>T
c.*3622-2162A>T (n.*3622-2162A>T)
c.3770T>A (p.Val1257Asp)
c.2894T>A (p.Val965Asp)
c.2243T>A (p.Val748Asp)
c.1847T>A (p.Val616Asp)
c.1589T>A (p.Val530Asp)
10g.75028756T>CCA377292628DUSP29,KAT6Bc.3932T>C (p.Val1311Ala)
c.3383T>C (p.Val1128Ala)
c.3056T>C (p.Val1019Ala)
c.2867T>C (p.Val956Ala)
n.577-2162A>G
c.*3622-2162A>G (n.*3622-2162A>G)
c.3770T>C (p.Val1257Ala)
c.2894T>C (p.Val965Ala)
c.2243T>C (p.Val748Ala)
c.1847T>C (p.Val616Ala)
c.1589T>C (p.Val530Ala)
10g.75028756T>GCA377292630DUSP29,KAT6Bc.3932T>G (p.Val1311Gly)
c.3383T>G (p.Val1128Gly)
c.3056T>G (p.Val1019Gly)
c.2867T>G (p.Val956Gly)
n.577-2162A>C
c.*3622-2162A>C (n.*3622-2162A>C)
c.3770T>G (p.Val1257Gly)
c.2894T>G (p.Val965Gly)
c.2243T>G (p.Val748Gly)
c.1847T>G (p.Val616Gly)
c.1589T>G (p.Val530Gly)
10g.75028757C>ACA470299631DUSP29,KAT6Bc.3933C>A (p.Val1311=)
c.3384C>A (p.Val1128=)
c.3057C>A (p.Val1019=)
c.2868C>A (p.Val956=)
n.577-2163G>T
c.*3622-2163G>T (n.*3622-2163G>T)
c.3771C>A (p.Val1257=)
c.2895C>A (p.Val965=)
c.2244C>A (p.Val748=)
c.1848C>A (p.Val616=)
c.1590C>A (p.Val530=)
 COSMIC
10g.75028757C>GCA470299632DUSP29,KAT6Bc.3933C>G (p.Val1311=)
c.3384C>G (p.Val1128=)
c.3057C>G (p.Val1019=)
c.2868C>G (p.Val956=)
n.577-2163G>C
c.*3622-2163G>C (n.*3622-2163G>C)
c.3771C>G (p.Val1257=)
c.2895C>G (p.Val965=)
c.2244C>G (p.Val748=)
c.1848C>G (p.Val616=)
c.1590C>G (p.Val530=)
10g.75028757C>TCA470299633DUSP29,KAT6Bc.3933C>T (p.Val1311=)
c.3384C>T (p.Val1128=)
c.3057C>T (p.Val1019=)
c.2868C>T (p.Val956=)
n.577-2163G>A
c.*3622-2163G>A (n.*3622-2163G>A)
c.3771C>T (p.Val1257=)
c.2895C>T (p.Val965=)
c.2244C>T (p.Val748=)
c.1848C>T (p.Val616=)
c.1590C>T (p.Val530=)
10g.75028758A>CCA377292632DUSP29,KAT6Bc.3934A>C (p.Lys1312Gln)
c.3385A>C (p.Lys1129Gln)
c.3058A>C (p.Lys1020Gln)
c.2869A>C (p.Lys957Gln)
n.577-2164T>G
c.*3622-2164T>G (n.*3622-2164T>G)
c.3772A>C (p.Lys1258Gln)
c.2896A>C (p.Lys966Gln)
c.2245A>C (p.Lys749Gln)
c.1849A>C (p.Lys617Gln)
c.1591A>C (p.Lys531Gln)
10g.75028758A>GCA377292636DUSP29,KAT6Bc.3934A>G (p.Lys1312Glu)
c.3385A>G (p.Lys1129Glu)
c.3058A>G (p.Lys1020Glu)
c.2869A>G (p.Lys957Glu)
n.577-2164T>C
c.*3622-2164T>C (n.*3622-2164T>C)
c.3772A>G (p.Lys1258Glu)
c.2896A>G (p.Lys966Glu)
c.2245A>G (p.Lys749Glu)
c.1849A>G (p.Lys617Glu)
c.1591A>G (p.Lys531Glu)
10g.75028758A>TCA377292634DUSP29,KAT6Bc.3934A>T (p.Lys1312Ter)
c.3385A>T (p.Lys1129Ter)
c.3058A>T (p.Lys1020Ter)
c.2869A>T (p.Lys957Ter)
n.577-2164T>A
c.*3622-2164T>A (n.*3622-2164T>A)
c.3772A>T (p.Lys1258Ter)
c.2896A>T (p.Lys966Ter)
c.2245A>T (p.Lys749Ter)
c.1849A>T (p.Lys617Ter)
c.1591A>T (p.Lys531Ter)
10g.75028759A>CCA377292639DUSP29,KAT6Bc.3935A>C (p.Lys1312Thr)
c.3386A>C (p.Lys1129Thr)
c.3059A>C (p.Lys1020Thr)
c.2870A>C (p.Lys957Thr)
n.577-2165T>G
c.*3622-2165T>G (n.*3622-2165T>G)
c.3773A>C (p.Lys1258Thr)
c.2897A>C (p.Lys966Thr)
c.2246A>C (p.Lys749Thr)
c.1850A>C (p.Lys617Thr)
c.1592A>C (p.Lys531Thr)
10g.75028759A>GCA377292641DUSP29,KAT6Bc.3935A>G (p.Lys1312Arg)
c.3386A>G (p.Lys1129Arg)
c.3059A>G (p.Lys1020Arg)
c.2870A>G (p.Lys957Arg)
n.577-2165T>C
c.*3622-2165T>C (n.*3622-2165T>C)
c.3773A>G (p.Lys1258Arg)
c.2897A>G (p.Lys966Arg)
c.2246A>G (p.Lys749Arg)
c.1850A>G (p.Lys617Arg)
c.1592A>G (p.Lys531Arg)
10g.75028759A>TCA377292643DUSP29,KAT6Bc.3935A>T (p.Lys1312Met)
c.3386A>T (p.Lys1129Met)
c.3059A>T (p.Lys1020Met)
c.2870A>T (p.Lys957Met)
n.577-2165T>A
c.*3622-2165T>A (n.*3622-2165T>A)
c.3773A>T (p.Lys1258Met)
c.2897A>T (p.Lys966Met)
c.2246A>T (p.Lys749Met)
c.1850A>T (p.Lys617Met)
c.1592A>T (p.Lys531Met)
10g.75028760G>ACA470299584DUSP29,KAT6Bc.3936G>A (p.Lys1312=)
c.3387G>A (p.Lys1129=)
c.3060G>A (p.Lys1020=)
c.2871G>A (p.Lys957=)
n.577-2166C>T
c.*3622-2166C>T (n.*3622-2166C>T)
c.3774G>A (p.Lys1258=)
c.2898G>A (p.Lys966=)
c.2247G>A (p.Lys749=)
c.1851G>A (p.Lys617=)
c.1593G>A (p.Lys531=)
 gnomAD v4
10g.75028760G>CCA377294741DUSP29,KAT6Bc.3936G>C (p.Lys1312Asn)
c.3387G>C (p.Lys1129Asn)
c.3060G>C (p.Lys1020Asn)
c.2871G>C (p.Lys957Asn)
n.577-2166C>G
c.*3622-2166C>G (n.*3622-2166C>G)
c.3774G>C (p.Lys1258Asn)
c.2898G>C (p.Lys966Asn)
c.2247G>C (p.Lys749Asn)
c.1851G>C (p.Lys617Asn)
c.1593G>C (p.Lys531Asn)
10g.75028760G>TCA377294742DUSP29,KAT6Bc.3936G>T (p.Lys1312Asn)
c.3387G>T (p.Lys1129Asn)
c.3060G>T (p.Lys1020Asn)
c.2871G>T (p.Lys957Asn)
n.577-2166C>A
c.*3622-2166C>A (n.*3622-2166C>A)
c.3774G>T (p.Lys1258Asn)
c.2898G>T (p.Lys966Asn)
c.2247G>T (p.Lys749Asn)
c.1851G>T (p.Lys617Asn)
c.1593G>T (p.Lys531Asn)
10g.75028761G>ACA377294743DUSP29,KAT6Bc.3937G>A (p.Glu1313Lys)
c.3388G>A (p.Glu1130Lys)
c.3061G>A (p.Glu1021Lys)
c.2872G>A (p.Glu958Lys)
n.577-2167C>T
c.*3622-2167C>T (n.*3622-2167C>T)
c.3775G>A (p.Glu1259Lys)
c.2899G>A (p.Glu967Lys)
c.2248G>A (p.Glu750Lys)
c.1852G>A (p.Glu618Lys)
c.1594G>A (p.Glu532Lys)
10g.75028761G>CCA377294744DUSP29,KAT6Bc.3937G>C (p.Glu1313Gln)
c.3388G>C (p.Glu1130Gln)
c.3061G>C (p.Glu1021Gln)
c.2872G>C (p.Glu958Gln)
n.577-2167C>G
c.*3622-2167C>G (n.*3622-2167C>G)
c.3775G>C (p.Glu1259Gln)
c.2899G>C (p.Glu967Gln)
c.2248G>C (p.Glu750Gln)
c.1852G>C (p.Glu618Gln)
c.1594G>C (p.Glu532Gln)
10g.75028761G>TCA377294745DUSP29,KAT6Bc.3937G>T (p.Glu1313Ter)
c.3388G>T (p.Glu1130Ter)
c.3061G>T (p.Glu1021Ter)
c.2872G>T (p.Glu958Ter)
n.577-2167C>A
c.*3622-2167C>A (n.*3622-2167C>A)
c.3775G>T (p.Glu1259Ter)
c.2899G>T (p.Glu967Ter)
c.2248G>T (p.Glu750Ter)
c.1852G>T (p.Glu618Ter)
c.1594G>T (p.Glu532Ter)
10g.75028762A>CCA377294746DUSP29,KAT6Bc.3938A>C (p.Glu1313Ala)
c.3389A>C (p.Glu1130Ala)
c.3062A>C (p.Glu1021Ala)
c.2873A>C (p.Glu958Ala)
n.577-2168T>G
c.*3622-2168T>G (n.*3622-2168T>G)
c.3776A>C (p.Glu1259Ala)
c.2900A>C (p.Glu967Ala)
c.2249A>C (p.Glu750Ala)
c.1853A>C (p.Glu618Ala)
c.1595A>C (p.Glu532Ala)
10g.75028762A>GCA377294747DUSP29,KAT6Bc.3938A>G (p.Glu1313Gly)
c.3389A>G (p.Glu1130Gly)
c.3062A>G (p.Glu1021Gly)
c.2873A>G (p.Glu958Gly)
n.577-2168T>C
c.*3622-2168T>C (n.*3622-2168T>C)
c.3776A>G (p.Glu1259Gly)
c.2900A>G (p.Glu967Gly)
c.2249A>G (p.Glu750Gly)
c.1853A>G (p.Glu618Gly)
c.1595A>G (p.Glu532Gly)
10g.75028762A>TCA377294748DUSP29,KAT6Bc.3938A>T (p.Glu1313Val)
c.3389A>T (p.Glu1130Val)
c.3062A>T (p.Glu1021Val)
c.2873A>T (p.Glu958Val)
n.577-2168T>A
c.*3622-2168T>A (n.*3622-2168T>A)
c.3776A>T (p.Glu1259Val)
c.2900A>T (p.Glu967Val)
c.2249A>T (p.Glu750Val)
c.1853A>T (p.Glu618Val)
c.1595A>T (p.Glu532Val)
10g.75028763A>CCA377294749DUSP29,KAT6Bc.3939A>C (p.Glu1313Asp)
c.3390A>C (p.Glu1130Asp)
c.3063A>C (p.Glu1021Asp)
c.2874A>C (p.Glu958Asp)
n.577-2169T>G
c.*3622-2169T>G (n.*3622-2169T>G)
c.3777A>C (p.Glu1259Asp)
c.2901A>C (p.Glu967Asp)
c.2250A>C (p.Glu750Asp)
c.1854A>C (p.Glu618Asp)
c.1596A>C (p.Glu532Asp)
10g.75028763A>GCA470299588DUSP29,KAT6Bc.3939A>G (p.Glu1313=)
c.3390A>G (p.Glu1130=)
c.3063A>G (p.Glu1021=)
c.2874A>G (p.Glu958=)
n.577-2169T>C
c.*3622-2169T>C (n.*3622-2169T>C)
c.3777A>G (p.Glu1259=)
c.2901A>G (p.Glu967=)
c.2250A>G (p.Glu750=)
c.1854A>G (p.Glu618=)
c.1596A>G (p.Glu532=)
10g.75028763A>TCA377294750DUSP29,KAT6Bc.3939A>T (p.Glu1313Asp)
c.3390A>T (p.Glu1130Asp)
c.3063A>T (p.Glu1021Asp)
c.2874A>T (p.Glu958Asp)
n.577-2169T>A
c.*3622-2169T>A (n.*3622-2169T>A)
c.3777A>T (p.Glu1259Asp)
c.2901A>T (p.Glu967Asp)
c.2250A>T (p.Glu750Asp)
c.1854A>T (p.Glu618Asp)
c.1596A>T (p.Glu532Asp)
10g.75028764A>CCA377294751DUSP29,KAT6Bc.3940A>C (p.Thr1314Pro)
c.3391A>C (p.Thr1131Pro)
c.3064A>C (p.Thr1022Pro)
c.2875A>C (p.Thr959Pro)
n.577-2170T>G
c.*3622-2170T>G (n.*3622-2170T>G)
c.3778A>C (p.Thr1260Pro)
c.2902A>C (p.Thr968Pro)
c.2251A>C (p.Thr751Pro)
c.1855A>C (p.Thr619Pro)
c.1597A>C (p.Thr533Pro)
10g.75028764A>GCA377294752DUSP29,KAT6Bc.3940A>G (p.Thr1314Ala)
c.3391A>G (p.Thr1131Ala)
c.3064A>G (p.Thr1022Ala)
c.2875A>G (p.Thr959Ala)
n.577-2170T>C
c.*3622-2170T>C (n.*3622-2170T>C)
c.3778A>G (p.Thr1260Ala)
c.2902A>G (p.Thr968Ala)
c.2251A>G (p.Thr751Ala)
c.1855A>G (p.Thr619Ala)
c.1597A>G (p.Thr533Ala)
10g.75028764A>TCA377294753DUSP29,KAT6Bc.3940A>T (p.Thr1314Ser)
c.3391A>T (p.Thr1131Ser)
c.3064A>T (p.Thr1022Ser)
c.2875A>T (p.Thr959Ser)
n.577-2170T>A
c.*3622-2170T>A (n.*3622-2170T>A)
c.3778A>T (p.Thr1260Ser)
c.2902A>T (p.Thr968Ser)
c.2251A>T (p.Thr751Ser)
c.1855A>T (p.Thr619Ser)
c.1597A>T (p.Thr533Ser)
10g.75028765C>ACA377294754DUSP29,KAT6Bc.3941C>A (p.Thr1314Asn)
c.3392C>A (p.Thr1131Asn)
c.3065C>A (p.Thr1022Asn)
c.2876C>A (p.Thr959Asn)
n.577-2171G>T
c.*3622-2171G>T (n.*3622-2171G>T)
c.3779C>A (p.Thr1260Asn)
c.2903C>A (p.Thr968Asn)
c.2252C>A (p.Thr751Asn)
c.1856C>A (p.Thr619Asn)
c.1598C>A (p.Thr533Asn)
10g.75028765C>GCA377294755DUSP29,KAT6Bc.3941C>G (p.Thr1314Ser)
c.3392C>G (p.Thr1131Ser)
c.3065C>G (p.Thr1022Ser)
c.2876C>G (p.Thr959Ser)
n.577-2171G>C
c.*3622-2171G>C (n.*3622-2171G>C)
c.3779C>G (p.Thr1260Ser)
c.2903C>G (p.Thr968Ser)
c.2252C>G (p.Thr751Ser)
c.1856C>G (p.Thr619Ser)
c.1598C>G (p.Thr533Ser)
10g.75028765C>TCA377294756DUSP29,KAT6Bc.3941C>T (p.Thr1314Ile)
c.3392C>T (p.Thr1131Ile)
c.3065C>T (p.Thr1022Ile)
c.2876C>T (p.Thr959Ile)
n.577-2171G>A
c.*3622-2171G>A (n.*3622-2171G>A)
c.3779C>T (p.Thr1260Ile)
c.2903C>T (p.Thr968Ile)
c.2252C>T (p.Thr751Ile)
c.1856C>T (p.Thr619Ile)
c.1598C>T (p.Thr533Ile)
10g.75028766T>ACA5564926DUSP29,KAT6Bc.3942T>A (p.Thr1314=)
c.3393T>A (p.Thr1131=)
c.3066T>A (p.Thr1022=)
c.2877T>A (p.Thr959=)
n.577-2172A>T
c.*3622-2172A>T (n.*3622-2172A>T)
c.3780T>A (p.Thr1260=)
c.2904T>A (p.Thr968=)
c.2253T>A (p.Thr751=)
c.1857T>A (p.Thr619=)
c.1599T>A (p.Thr533=)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.75028766T>CCA470299590DUSP29,KAT6Bc.3942T>C (p.Thr1314=)
c.3393T>C (p.Thr1131=)
c.3066T>C (p.Thr1022=)
c.2877T>C (p.Thr959=)
n.577-2172A>G
c.*3622-2172A>G (n.*3622-2172A>G)
c.3780T>C (p.Thr1260=)
c.2904T>C (p.Thr968=)
c.2253T>C (p.Thr751=)
c.1857T>C (p.Thr619=)
c.1599T>C (p.Thr533=)
 gnomAD v4
10g.75028766T>GCA470299591DUSP29,KAT6Bc.3942T>G (p.Thr1314=)
c.3393T>G (p.Thr1131=)
c.3066T>G (p.Thr1022=)
c.2877T>G (p.Thr959=)
n.577-2172A>C
c.*3622-2172A>C (n.*3622-2172A>C)
c.3780T>G (p.Thr1260=)
c.2904T>G (p.Thr968=)
c.2253T>G (p.Thr751=)
c.1857T>G (p.Thr619=)
c.1599T>G (p.Thr533=)
 gnomAD v4
10g.75028766T=CA1920306450DUSP29,KAT6Bc.3942T= (p.Thr1314=)
c.3393T= (p.Thr1131=)
c.3066T= (p.Thr1022=)
c.2877T= (p.Thr959=)
n.577-2172A=
c.*3622-2172A= (n.*3622-2172A=)
c.3780T= (p.Thr1260=)
c.2904T= (p.Thr968=)
c.2253T= (p.Thr751=)
c.1857T= (p.Thr619=)
c.1599T= (p.Thr533=)
10g.75028767G>ACA377294757DUSP29,KAT6Bc.3943G>A (p.Gly1315Arg)
c.3394G>A (p.Gly1132Arg)
c.3067G>A (p.Gly1023Arg)
c.2878G>A (p.Gly960Arg)
n.577-2173C>T
c.*3622-2173C>T (n.*3622-2173C>T)
c.3781G>A (p.Gly1261Arg)
c.2905G>A (p.Gly969Arg)
c.2254G>A (p.Gly752Arg)
c.1858G>A (p.Gly620Arg)
c.1600G>A (p.Gly534Arg)
10g.75028767G>CCA5564927DUSP29,KAT6Bc.3943G>C (p.Gly1315Arg)
c.3394G>C (p.Gly1132Arg)
c.3067G>C (p.Gly1023Arg)
c.2878G>C (p.Gly960Arg)
n.577-2173C>G
c.*3622-2173C>G (n.*3622-2173C>G)
c.3781G>C (p.Gly1261Arg)
c.2905G>C (p.Gly969Arg)
c.2254G>C (p.Gly752Arg)
c.1858G>C (p.Gly620Arg)
c.1600G>C (p.Gly534Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.75028767G=CA1920306451DUSP29,KAT6Bc.3943G= (p.Gly1315=)
c.3394G= (p.Gly1132=)
c.3067G= (p.Gly1023=)
c.2878G= (p.Gly960=)
n.577-2173C=
c.*3622-2173C= (n.*3622-2173C=)
c.3781G= (p.Gly1261=)
c.2905G= (p.Gly969=)
c.2254G= (p.Gly752=)
c.1858G= (p.Gly620=)
c.1600G= (p.Gly534=)
10g.75028767G>TCA377294758DUSP29,KAT6Bc.3943G>T (p.Gly1315Trp)
c.3394G>T (p.Gly1132Trp)
c.3067G>T (p.Gly1023Trp)
c.2878G>T (p.Gly960Trp)
n.577-2173C>A
c.*3622-2173C>A (n.*3622-2173C>A)
c.3781G>T (p.Gly1261Trp)
c.2905G>T (p.Gly969Trp)
c.2254G>T (p.Gly752Trp)
c.1858G>T (p.Gly620Trp)
c.1600G>T (p.Gly534Trp)
10g.75028768G>ACA377294759DUSP29,KAT6Bc.3944G>A (p.Gly1315Glu)
c.3395G>A (p.Gly1132Glu)
c.3068G>A (p.Gly1023Glu)
c.2879G>A (p.Gly960Glu)
n.577-2174C>T
c.*3622-2174C>T (n.*3622-2174C>T)
c.3782G>A (p.Gly1261Glu)
c.2906G>A (p.Gly969Glu)
c.2255G>A (p.Gly752Glu)
c.1859G>A (p.Gly620Glu)
c.1601G>A (p.Gly534Glu)
10g.75028768G>CCA377294760DUSP29,KAT6Bc.3944G>C (p.Gly1315Ala)
c.3395G>C (p.Gly1132Ala)
c.3068G>C (p.Gly1023Ala)
c.2879G>C (p.Gly960Ala)
n.577-2174C>G
c.*3622-2174C>G (n.*3622-2174C>G)
c.3782G>C (p.Gly1261Ala)
c.2906G>C (p.Gly969Ala)
c.2255G>C (p.Gly752Ala)
c.1859G>C (p.Gly620Ala)
c.1601G>C (p.Gly534Ala)
10g.75028768G>TCA377294761DUSP29,KAT6Bc.3944G>T (p.Gly1315Val)
c.3395G>T (p.Gly1132Val)
c.3068G>T (p.Gly1023Val)
c.2879G>T (p.Gly960Val)
n.577-2174C>A
c.*3622-2174C>A (n.*3622-2174C>A)
c.3782G>T (p.Gly1261Val)
c.2906G>T (p.Gly969Val)
c.2255G>T (p.Gly752Val)
c.1859G>T (p.Gly620Val)
c.1601G>T (p.Gly534Val)
10g.75028769G>ACA470299595DUSP29,KAT6Bc.3945G>A (p.Gly1315=)
c.3396G>A (p.Gly1132=)
c.3069G>A (p.Gly1023=)
c.2880G>A (p.Gly960=)
n.577-2175C>T
c.*3622-2175C>T (n.*3622-2175C>T)
c.3783G>A (p.Gly1261=)
c.2907G>A (p.Gly969=)
c.2256G>A (p.Gly752=)
c.1860G>A (p.Gly620=)
c.1602G>A (p.Gly534=)
 gnomAD v4
10g.75028769G>CCA470299594DUSP29,KAT6Bc.3945G>C (p.Gly1315=)
c.3396G>C (p.Gly1132=)
c.3069G>C (p.Gly1023=)
c.2880G>C (p.Gly960=)
n.577-2175C>G
c.*3622-2175C>G (n.*3622-2175C>G)
c.3783G>C (p.Gly1261=)
c.2907G>C (p.Gly969=)
c.2256G>C (p.Gly752=)
c.1860G>C (p.Gly620=)
c.1602G>C (p.Gly534=)
10g.75028769G>TCA470299593DUSP29,KAT6Bc.3945G>T (p.Gly1315=)
c.3396G>T (p.Gly1132=)
c.3069G>T (p.Gly1023=)
c.2880G>T (p.Gly960=)
n.577-2175C>A
c.*3622-2175C>A (n.*3622-2175C>A)
c.3783G>T (p.Gly1261=)
c.2907G>T (p.Gly969=)
c.2256G>T (p.Gly752=)
c.1860G>T (p.Gly620=)
c.1602G>T (p.Gly534=)
10g.75028770G>ACA377294764DUSP29,KAT6Bc.3946G>A (p.Glu1316Lys)
c.3397G>A (p.Glu1133Lys)
c.3070G>A (p.Glu1024Lys)
c.2881G>A (p.Glu961Lys)
n.577-2176C>T
c.*3622-2176C>T (n.*3622-2176C>T)
c.3784G>A (p.Glu1262Lys)
c.2908G>A (p.Glu970Lys)
c.2257G>A (p.Glu753Lys)
c.1861G>A (p.Glu621Lys)
c.1603G>A (p.Glu535Lys)
10g.75028770G>CCA377294763DUSP29,KAT6Bc.3946G>C (p.Glu1316Gln)
c.3397G>C (p.Glu1133Gln)
c.3070G>C (p.Glu1024Gln)
c.2881G>C (p.Glu961Gln)
n.577-2176C>G
c.*3622-2176C>G (n.*3622-2176C>G)
c.3784G>C (p.Glu1262Gln)
c.2908G>C (p.Glu970Gln)
c.2257G>C (p.Glu753Gln)
c.1861G>C (p.Glu621Gln)
c.1603G>C (p.Glu535Gln)
10g.75028770G>TCA377294762DUSP29,KAT6Bc.3946G>T (p.Glu1316Ter)
c.3397G>T (p.Glu1133Ter)
c.3070G>T (p.Glu1024Ter)
c.2881G>T (p.Glu961Ter)
n.577-2176C>A
c.*3622-2176C>A (n.*3622-2176C>A)
c.3784G>T (p.Glu1262Ter)
c.2908G>T (p.Glu970Ter)
c.2257G>T (p.Glu753Ter)
c.1861G>T (p.Glu621Ter)
c.1603G>T (p.Glu535Ter)
10g.75028771A=CA1920306452DUSP29,KAT6Bc.3947A= (p.Glu1316=)
c.3398A= (p.Glu1133=)
c.3071A= (p.Glu1024=)
c.2882A= (p.Glu961=)
n.577-2177T=
c.*3622-2177T= (n.*3622-2177T=)
c.3785A= (p.Glu1262=)
c.2909A= (p.Glu970=)
c.2258A= (p.Glu753=)
c.1862A= (p.Glu621=)
c.1604A= (p.Glu535=)
10g.75028771A>CCA377294765DUSP29,KAT6Bc.3947A>C (p.Glu1316Ala)
c.3398A>C (p.Glu1133Ala)
c.3071A>C (p.Glu1024Ala)
c.2882A>C (p.Glu961Ala)
n.577-2177T>G
c.*3622-2177T>G (n.*3622-2177T>G)
c.3785A>C (p.Glu1262Ala)
c.2909A>C (p.Glu970Ala)
c.2258A>C (p.Glu753Ala)
c.1862A>C (p.Glu621Ala)
c.1604A>C (p.Glu535Ala)
10g.75028771A>GCA5564928DUSP29,KAT6Bc.3947A>G (p.Glu1316Gly)
c.3398A>G (p.Glu1133Gly)
c.3071A>G (p.Glu1024Gly)
c.2882A>G (p.Glu961Gly)
n.577-2177T>C
c.*3622-2177T>C (n.*3622-2177T>C)
c.3785A>G (p.Glu1262Gly)
c.2909A>G (p.Glu970Gly)
c.2258A>G (p.Glu753Gly)
c.1862A>G (p.Glu621Gly)
c.1604A>G (p.Glu535Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.75028771A>TCA377294766DUSP29,KAT6Bc.3947A>T (p.Glu1316Val)
c.3398A>T (p.Glu1133Val)
c.3071A>T (p.Glu1024Val)
c.2882A>T (p.Glu961Val)
n.577-2177T>A
c.*3622-2177T>A (n.*3622-2177T>A)
c.3785A>T (p.Glu1262Val)
c.2909A>T (p.Glu970Val)
c.2258A>T (p.Glu753Val)
c.1862A>T (p.Glu621Val)
c.1604A>T (p.Glu535Val)
10g.75028772A>CCA377294767DUSP29,KAT6Bc.3948A>C (p.Glu1316Asp)
c.3399A>C (p.Glu1133Asp)
c.3072A>C (p.Glu1024Asp)
c.2883A>C (p.Glu961Asp)
n.577-2178T>G
c.*3622-2178T>G (n.*3622-2178T>G)
c.3786A>C (p.Glu1262Asp)
c.2910A>C (p.Glu970Asp)
c.2259A>C (p.Glu753Asp)
c.1863A>C (p.Glu621Asp)
c.1605A>C (p.Glu535Asp)
 gnomAD v4
10g.75028772A>GCA470299597DUSP29,KAT6Bc.3948A>G (p.Glu1316=)
c.3399A>G (p.Glu1133=)
c.3072A>G (p.Glu1024=)
c.2883A>G (p.Glu961=)
n.577-2178T>C
c.*3622-2178T>C (n.*3622-2178T>C)
c.3786A>G (p.Glu1262=)
c.2910A>G (p.Glu970=)
c.2259A>G (p.Glu753=)
c.1863A>G (p.Glu621=)
c.1605A>G (p.Glu535=)
 gnomAD v4
10g.75028772A>TCA377294768DUSP29,KAT6Bc.3948A>T (p.Glu1316Asp)
c.3399A>T (p.Glu1133Asp)
c.3072A>T (p.Glu1024Asp)
c.2883A>T (p.Glu961Asp)
n.577-2178T>A
c.*3622-2178T>A (n.*3622-2178T>A)
c.3786A>T (p.Glu1262Asp)
c.2910A>T (p.Glu970Asp)
c.2259A>T (p.Glu753Asp)
c.1863A>T (p.Glu621Asp)
c.1605A>T (p.Glu535Asp)
10g.75028773G>ACA377294769DUSP29,KAT6Bc.3949G>A (p.Ala1317Thr)
c.3400G>A (p.Ala1134Thr)
c.3073G>A (p.Ala1025Thr)
c.2884G>A (p.Ala962Thr)
n.577-2179C>T
c.*3622-2179C>T (n.*3622-2179C>T)
c.3787G>A (p.Ala1263Thr)
c.2911G>A (p.Ala971Thr)
c.2260G>A (p.Ala754Thr)
c.1864G>A (p.Ala622Thr)
c.1606G>A (p.Ala536Thr)
 dbSNP gnomAD v3 gnomAD v4 COSMIC
10g.75028773G>CCA377294770DUSP29,KAT6Bc.3949G>C (p.Ala1317Pro)
c.3400G>C (p.Ala1134Pro)
c.3073G>C (p.Ala1025Pro)
c.2884G>C (p.Ala962Pro)
n.577-2179C>G
c.*3622-2179C>G (n.*3622-2179C>G)
c.3787G>C (p.Ala1263Pro)
c.2911G>C (p.Ala971Pro)
c.2260G>C (p.Ala754Pro)
c.1864G>C (p.Ala622Pro)
c.1606G>C (p.Ala536Pro)
10g.75028773G=CA1920306453DUSP29,KAT6Bc.3949G= (p.Ala1317=)
c.3400G= (p.Ala1134=)
c.3073G= (p.Ala1025=)
c.2884G= (p.Ala962=)
n.577-2179C=
c.*3622-2179C= (n.*3622-2179C=)
c.3787G= (p.Ala1263=)
c.2911G= (p.Ala971=)
c.2260G= (p.Ala754=)
c.1864G= (p.Ala622=)
c.1606G= (p.Ala536=)
10g.75028773G>TCA377294771DUSP29,KAT6Bc.3949G>T (p.Ala1317Ser)
c.3400G>T (p.Ala1134Ser)
c.3073G>T (p.Ala1025Ser)
c.2884G>T (p.Ala962Ser)
n.577-2179C>A
c.*3622-2179C>A (n.*3622-2179C>A)
c.3787G>T (p.Ala1263Ser)
c.2911G>T (p.Ala971Ser)
c.2260G>T (p.Ala754Ser)
c.1864G>T (p.Ala622Ser)
c.1606G>T (p.Ala536Ser)
10g.75028774C>ACA377294772DUSP29,KAT6Bc.3950C>A (p.Ala1317Asp)
c.3401C>A (p.Ala1134Asp)
c.3074C>A (p.Ala1025Asp)
c.2885C>A (p.Ala962Asp)
n.577-2180G>T
c.*3622-2180G>T (n.*3622-2180G>T)
c.3788C>A (p.Ala1263Asp)
c.2912C>A (p.Ala971Asp)
c.2261C>A (p.Ala754Asp)
c.1865C>A (p.Ala622Asp)
c.1607C>A (p.Ala536Asp)
10g.75028774C>GCA377294773DUSP29,KAT6Bc.3950C>G (p.Ala1317Gly)
c.3401C>G (p.Ala1134Gly)
c.3074C>G (p.Ala1025Gly)
c.2885C>G (p.Ala962Gly)
n.577-2180G>C
c.*3622-2180G>C (n.*3622-2180G>C)
c.3788C>G (p.Ala1263Gly)
c.2912C>G (p.Ala971Gly)
c.2261C>G (p.Ala754Gly)
c.1865C>G (p.Ala622Gly)
c.1607C>G (p.Ala536Gly)
10g.75028774C>TCA377294774DUSP29,KAT6Bc.3950C>T (p.Ala1317Val)
c.3401C>T (p.Ala1134Val)
c.3074C>T (p.Ala1025Val)
c.2885C>T (p.Ala962Val)
n.577-2180G>A
c.*3622-2180G>A (n.*3622-2180G>A)
c.3788C>T (p.Ala1263Val)
c.2912C>T (p.Ala971Val)
c.2261C>T (p.Ala754Val)
c.1865C>T (p.Ala622Val)
c.1607C>T (p.Ala536Val)
10g.75028775C>ACA470299601DUSP29,KAT6Bc.3951C>A (p.Ala1317=)
c.3402C>A (p.Ala1134=)
c.3075C>A (p.Ala1025=)
c.2886C>A (p.Ala962=)
n.577-2181G>T
c.*3622-2181G>T (n.*3622-2181G>T)
c.3789C>A (p.Ala1263=)
c.2913C>A (p.Ala971=)
c.2262C>A (p.Ala754=)
c.1866C>A (p.Ala622=)
c.1608C>A (p.Ala536=)
10g.75028775C>GCA470299603DUSP29,KAT6Bc.3951C>G (p.Ala1317=)
c.3402C>G (p.Ala1134=)
c.3075C>G (p.Ala1025=)
c.2886C>G (p.Ala962=)
n.577-2181G>C
c.*3622-2181G>C (n.*3622-2181G>C)
c.3789C>G (p.Ala1263=)
c.2913C>G (p.Ala971=)
c.2262C>G (p.Ala754=)
c.1866C>G (p.Ala622=)
c.1608C>G (p.Ala536=)
 gnomAD v4
10g.75028775C>TCA470299602DUSP29,KAT6Bc.3951C>T (p.Ala1317=)
c.3402C>T (p.Ala1134=)
c.3075C>T (p.Ala1025=)
c.2886C>T (p.Ala962=)
n.577-2181G>A
c.*3622-2181G>A (n.*3622-2181G>A)
c.3789C>T (p.Ala1263=)
c.2913C>T (p.Ala971=)
c.2262C>T (p.Ala754=)
c.1866C>T (p.Ala622=)
c.1608C>T (p.Ala536=)
10g.75028776C>ACA377294775DUSP29,KAT6Bc.3952C>A (p.Leu1318Met)
c.3403C>A (p.Leu1135Met)
c.3076C>A (p.Leu1026Met)
c.2887C>A (p.Leu963Met)
n.577-2182G>T
c.*3622-2182G>T (n.*3622-2182G>T)
c.3790C>A (p.Leu1264Met)
c.2914C>A (p.Leu972Met)
c.2263C>A (p.Leu755Met)
c.1867C>A (p.Leu623Met)
c.1609C>A (p.Leu537Met)
10g.75028776C=CA1920306454DUSP29,KAT6Bc.3952C= (p.Leu1318=)
c.3403C= (p.Leu1135=)
c.3076C= (p.Leu1026=)
c.2887C= (p.Leu963=)
n.577-2182G=
c.*3622-2182G= (n.*3622-2182G=)
c.3790C= (p.Leu1264=)
c.2914C= (p.Leu972=)
c.2263C= (p.Leu755=)
c.1867C= (p.Leu623=)
c.1609C= (p.Leu537=)
10g.75028776C>GCA377294776DUSP29,KAT6Bc.3952C>G (p.Leu1318Val)
c.3403C>G (p.Leu1135Val)
c.3076C>G (p.Leu1026Val)
c.2887C>G (p.Leu963Val)
n.577-2182G>C
c.*3622-2182G>C (n.*3622-2182G>C)
c.3790C>G (p.Leu1264Val)
c.2914C>G (p.Leu972Val)
c.2263C>G (p.Leu755Val)
c.1867C>G (p.Leu623Val)
c.1609C>G (p.Leu537Val)
 ClinVar dbSNP
10g.75028776C>TCA209709269DUSP29,KAT6Bc.3952C>T (p.Leu1318=)
c.3403C>T (p.Leu1135=)
c.3076C>T (p.Leu1026=)
c.2887C>T (p.Leu963=)
n.577-2182G>A
c.*3622-2182G>A (n.*3622-2182G>A)
c.3790C>T (p.Leu1264=)
c.2914C>T (p.Leu972=)
c.2263C>T (p.Leu755=)
c.1867C>T (p.Leu623=)
c.1609C>T (p.Leu537=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.75028777T>ACA377294778DUSP29,KAT6Bc.3953T>A (p.Leu1318Gln)
c.3404T>A (p.Leu1135Gln)
c.3077T>A (p.Leu1026Gln)
c.2888T>A (p.Leu963Gln)
n.577-2183A>T
c.*3622-2183A>T (n.*3622-2183A>T)
c.3791T>A (p.Leu1264Gln)
c.2915T>A (p.Leu972Gln)
c.2264T>A (p.Leu755Gln)
c.1868T>A (p.Leu623Gln)
c.1610T>A (p.Leu537Gln)
10g.75028777T>CCA377294779DUSP29,KAT6Bc.3953T>C (p.Leu1318Pro)
c.3404T>C (p.Leu1135Pro)
c.3077T>C (p.Leu1026Pro)
c.2888T>C (p.Leu963Pro)
n.577-2183A>G
c.*3622-2183A>G (n.*3622-2183A>G)
c.3791T>C (p.Leu1264Pro)
c.2915T>C (p.Leu972Pro)
c.2264T>C (p.Leu755Pro)
c.1868T>C (p.Leu623Pro)
c.1610T>C (p.Leu537Pro)
10g.75028777T>GCA377294777DUSP29,KAT6Bc.3953T>G (p.Leu1318Arg)
c.3404T>G (p.Leu1135Arg)
c.3077T>G (p.Leu1026Arg)
c.2888T>G (p.Leu963Arg)
n.577-2183A>C
c.*3622-2183A>C (n.*3622-2183A>C)
c.3791T>G (p.Leu1264Arg)
c.2915T>G (p.Leu972Arg)
c.2264T>G (p.Leu755Arg)
c.1868T>G (p.Leu623Arg)
c.1610T>G (p.Leu537Arg)
10g.75028779_75028781dupCA594709539DUSP29,KAT6Bc.3955_3957dup (p.Leu1319_Pro1320insLeu)
c.3406_3408dup (p.Leu1136_Pro1137insLeu)
c.3079_3081dup (p.Leu1027_Pro1028insLeu)
c.2890_2892dup (p.Leu964_Pro965insLeu)
n.577-2185_577-2183dup
c.*3622-2185_*3622-2183dup (n.*3622-2185_*3622-2183dup)
c.3793_3795dup (p.Leu1265_Pro1266insLeu)
c.2917_2919dup (p.Leu973_Pro974insLeu)
c.2266_2268dup (p.Leu756_Pro757insLeu)
c.1870_1872dup (p.Leu624_Pro625insLeu)
c.1612_1614dup (p.Leu538_Pro539insLeu)
 dbSNP gnomAD v2 gnomAD v4
10g.75028778G>ACA5564929DUSP29,KAT6Bc.3954G>A (p.Leu1318=)
c.3405G>A (p.Leu1135=)
c.3078G>A (p.Leu1026=)
c.2889G>A (p.Leu963=)
n.577-2184C>T
c.*3622-2184C>T (n.*3622-2184C>T)
c.3792G>A (p.Leu1264=)
c.2916G>A (p.Leu972=)
c.2265G>A (p.Leu755=)
c.1869G>A (p.Leu623=)
c.1611G>A (p.Leu537=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.75028778G>CCA470299605DUSP29,KAT6Bc.3954G>C (p.Leu1318=)
c.3405G>C (p.Leu1135=)
c.3078G>C (p.Leu1026=)
c.2889G>C (p.Leu963=)
n.577-2184C>G
c.*3622-2184C>G (n.*3622-2184C>G)
c.3792G>C (p.Leu1264=)
c.2916G>C (p.Leu972=)
c.2265G>C (p.Leu755=)
c.1869G>C (p.Leu623=)
c.1611G>C (p.Leu537=)
10g.75028778G=CA1920306455DUSP29,KAT6Bc.3954G= (p.Leu1318=)
c.3405G= (p.Leu1135=)
c.3078G= (p.Leu1026=)
c.2889G= (p.Leu963=)
n.577-2184C=
c.*3622-2184C= (n.*3622-2184C=)
c.3792G= (p.Leu1264=)
c.2916G= (p.Leu972=)
c.2265G= (p.Leu755=)
c.1869G= (p.Leu623=)
c.1611G= (p.Leu537=)
10g.75028778G>TCA470299606DUSP29,KAT6Bc.3954G>T (p.Leu1318=)
c.3405G>T (p.Leu1135=)
c.3078G>T (p.Leu1026=)
c.2889G>T (p.Leu963=)
n.577-2184C>A
c.*3622-2184C>A (n.*3622-2184C>A)
c.3792G>T (p.Leu1264=)
c.2916G>T (p.Leu972=)
c.2265G>T (p.Leu755=)
c.1869G>T (p.Leu623=)
c.1611G>T (p.Leu537=)
 COSMIC
10g.75028779T>ACA377294780DUSP29,KAT6Bc.3955T>A (p.Leu1319Met)
c.3406T>A (p.Leu1136Met)
c.3079T>A (p.Leu1027Met)
c.2890T>A (p.Leu964Met)
n.577-2185A>T
c.*3622-2185A>T (n.*3622-2185A>T)
c.3793T>A (p.Leu1265Met)
c.2917T>A (p.Leu973Met)
c.2266T>A (p.Leu756Met)
c.1870T>A (p.Leu624Met)
c.1612T>A (p.Leu538Met)
10g.75028779T>CCA470299607DUSP29,KAT6Bc.3955T>C (p.Leu1319=)
c.3406T>C (p.Leu1136=)
c.3079T>C (p.Leu1027=)
c.2890T>C (p.Leu964=)
n.577-2185A>G
c.*3622-2185A>G (n.*3622-2185A>G)
c.3793T>C (p.Leu1265=)
c.2917T>C (p.Leu973=)
c.2266T>C (p.Leu756=)
c.1870T>C (p.Leu624=)
c.1612T>C (p.Leu538=)
 dbSNP
10g.75028779T>GCA377294781DUSP29,KAT6Bc.3955T>G (p.Leu1319Val)
c.3406T>G (p.Leu1136Val)
c.3079T>G (p.Leu1027Val)
c.2890T>G (p.Leu964Val)
n.577-2185A>C
c.*3622-2185A>C (n.*3622-2185A>C)
c.3793T>G (p.Leu1265Val)
c.2917T>G (p.Leu973Val)
c.2266T>G (p.Leu756Val)
c.1870T>G (p.Leu624Val)
c.1612T>G (p.Leu538Val)
 dbSNP gnomAD v4
10g.75028779T=CA1920306456DUSP29,KAT6Bc.3955T= (p.Leu1319=)
c.3406T= (p.Leu1136=)
c.3079T= (p.Leu1027=)
c.2890T= (p.Leu964=)
n.577-2185A=
c.*3622-2185A= (n.*3622-2185A=)
c.3793T= (p.Leu1265=)
c.2917T= (p.Leu973=)
c.2266T= (p.Leu756=)
c.1870T= (p.Leu624=)
c.1612T= (p.Leu538=)
10g.75028780T>ACA377294782DUSP29,KAT6Bc.3956T>A (p.Leu1319Ter)
c.3407T>A (p.Leu1136Ter)
c.3080T>A (p.Leu1027Ter)
c.2891T>A (p.Leu964Ter)
n.577-2186A>T
c.*3622-2186A>T (n.*3622-2186A>T)
c.3794T>A (p.Leu1265Ter)
c.2918T>A (p.Leu973Ter)
c.2267T>A (p.Leu756Ter)
c.1871T>A (p.Leu624Ter)
c.1613T>A (p.Leu538Ter)
10g.75028780T>CCA377294783DUSP29,KAT6Bc.3956T>C (p.Leu1319Ser)
c.3407T>C (p.Leu1136Ser)
c.3080T>C (p.Leu1027Ser)
c.2891T>C (p.Leu964Ser)
n.577-2186A>G
c.*3622-2186A>G (n.*3622-2186A>G)
c.3794T>C (p.Leu1265Ser)
c.2918T>C (p.Leu973Ser)
c.2267T>C (p.Leu756Ser)
c.1871T>C (p.Leu624Ser)
c.1613T>C (p.Leu538Ser)
 gnomAD v4
10g.75028780T>GCA377294784DUSP29,KAT6Bc.3956T>G (p.Leu1319Trp)
c.3407T>G (p.Leu1136Trp)
c.3080T>G (p.Leu1027Trp)
c.2891T>G (p.Leu964Trp)
n.577-2186A>C
c.*3622-2186A>C (n.*3622-2186A>C)
c.3794T>G (p.Leu1265Trp)
c.2918T>G (p.Leu973Trp)
c.2267T>G (p.Leu756Trp)
c.1871T>G (p.Leu624Trp)
c.1613T>G (p.Leu538Trp)
10g.75028781G>ACA470299611DUSP29,KAT6Bc.3957G>A (p.Leu1319=)
c.3408G>A (p.Leu1136=)
c.3081G>A (p.Leu1027=)
c.2892G>A (p.Leu964=)
n.577-2187C>T
c.*3622-2187C>T (n.*3622-2187C>T)
c.3795G>A (p.Leu1265=)
c.2919G>A (p.Leu973=)
c.2268G>A (p.Leu756=)
c.1872G>A (p.Leu624=)
c.1614G>A (p.Leu538=)
10g.75028781G>CCA377294785DUSP29,KAT6Bc.3957G>C (p.Leu1319Phe)
c.3408G>C (p.Leu1136Phe)
c.3081G>C (p.Leu1027Phe)
c.2892G>C (p.Leu964Phe)
n.577-2187C>G
c.*3622-2187C>G (n.*3622-2187C>G)
c.3795G>C (p.Leu1265Phe)
c.2919G>C (p.Leu973Phe)
c.2268G>C (p.Leu756Phe)
c.1872G>C (p.Leu624Phe)
c.1614G>C (p.Leu538Phe)
10g.75028781G=CA1920306457DUSP29,KAT6Bc.3957G= (p.Leu1319=)
c.3408G= (p.Leu1136=)
c.3081G= (p.Leu1027=)
c.2892G= (p.Leu964=)
n.577-2187C=
c.*3622-2187C= (n.*3622-2187C=)
c.3795G= (p.Leu1265=)
c.2919G= (p.Leu973=)
c.2268G= (p.Leu756=)
c.1872G= (p.Leu624=)
c.1614G= (p.Leu538=)
10g.75028781G>TCA5564930DUSP29,KAT6Bc.3957G>T (p.Leu1319Phe)
c.3408G>T (p.Leu1136Phe)
c.3081G>T (p.Leu1027Phe)
c.2892G>T (p.Leu964Phe)
n.577-2187C>A
c.*3622-2187C>A (n.*3622-2187C>A)
c.3795G>T (p.Leu1265Phe)
c.2919G>T (p.Leu973Phe)
c.2268G>T (p.Leu756Phe)
c.1872G>T (p.Leu624Phe)
c.1614G>T (p.Leu538Phe)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.75028782C>ACA5564931DUSP29,KAT6Bc.3958C>A (p.Pro1320Thr)
c.3409C>A (p.Pro1137Thr)
c.3082C>A (p.Pro1028Thr)
c.2893C>A (p.Pro965Thr)
n.577-2188G>T
c.*3622-2188G>T (n.*3622-2188G>T)
c.3796C>A (p.Pro1266Thr)
c.2920C>A (p.Pro974Thr)
c.2269C>A (p.Pro757Thr)
c.1873C>A (p.Pro625Thr)
c.1615C>A (p.Pro539Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.75028782C=CA1920306458DUSP29,KAT6Bc.3958C= (p.Pro1320=)
c.3409C= (p.Pro1137=)
c.3082C= (p.Pro1028=)
c.2893C= (p.Pro965=)
n.577-2188G=
c.*3622-2188G= (n.*3622-2188G=)
c.3796C= (p.Pro1266=)
c.2920C= (p.Pro974=)
c.2269C= (p.Pro757=)
c.1873C= (p.Pro625=)
c.1615C= (p.Pro539=)
10g.75028782C>GCA377294786DUSP29,KAT6Bc.3958C>G (p.Pro1320Ala)
c.3409C>G (p.Pro1137Ala)
c.3082C>G (p.Pro1028Ala)
c.2893C>G (p.Pro965Ala)
n.577-2188G>C
c.*3622-2188G>C (n.*3622-2188G>C)
c.3796C>G (p.Pro1266Ala)
c.2920C>G (p.Pro974Ala)
c.2269C>G (p.Pro757Ala)
c.1873C>G (p.Pro625Ala)
c.1615C>G (p.Pro539Ala)
10g.75028782C>TCA377294787DUSP29,KAT6Bc.3958C>T (p.Pro1320Ser)
c.3409C>T (p.Pro1137Ser)
c.3082C>T (p.Pro1028Ser)
c.2893C>T (p.Pro965Ser)
n.577-2188G>A
c.*3622-2188G>A (n.*3622-2188G>A)
c.3796C>T (p.Pro1266Ser)
c.2920C>T (p.Pro974Ser)
c.2269C>T (p.Pro757Ser)
c.1873C>T (p.Pro625Ser)
c.1615C>T (p.Pro539Ser)
 gnomAD v4
10g.75028783C>ACA377294790DUSP29,KAT6Bc.3959C>A (p.Pro1320His)
c.3410C>A (p.Pro1137His)
c.3083C>A (p.Pro1028His)
c.2894C>A (p.Pro965His)
n.577-2189G>T
c.*3622-2189G>T (n.*3622-2189G>T)
c.3797C>A (p.Pro1266His)
c.2921C>A (p.Pro974His)
c.2270C>A (p.Pro757His)
c.1874C>A (p.Pro625His)
c.1616C>A (p.Pro539His)
10g.75028783C>GCA377294789DUSP29,KAT6Bc.3959C>G (p.Pro1320Arg)
c.3410C>G (p.Pro1137Arg)
c.3083C>G (p.Pro1028Arg)
c.2894C>G (p.Pro965Arg)
n.577-2189G>C
c.*3622-2189G>C (n.*3622-2189G>C)
c.3797C>G (p.Pro1266Arg)
c.2921C>G (p.Pro974Arg)
c.2270C>G (p.Pro757Arg)
c.1874C>G (p.Pro625Arg)
c.1616C>G (p.Pro539Arg)
10g.75028783C>TCA377294788DUSP29,KAT6Bc.3959C>T (p.Pro1320Leu)
c.3410C>T (p.Pro1137Leu)
c.3083C>T (p.Pro1028Leu)
c.2894C>T (p.Pro965Leu)
n.577-2189G>A
c.*3622-2189G>A (n.*3622-2189G>A)
c.3797C>T (p.Pro1266Leu)
c.2921C>T (p.Pro974Leu)
c.2270C>T (p.Pro757Leu)
c.1874C>T (p.Pro625Leu)
c.1616C>T (p.Pro539Leu)
10g.75028784T>ACA470299614DUSP29,KAT6Bc.3960T>A (p.Pro1320=)
c.3411T>A (p.Pro1137=)
c.3084T>A (p.Pro1028=)
c.2895T>A (p.Pro965=)
n.577-2190A>T
c.*3622-2190A>T (n.*3622-2190A>T)
c.3798T>A (p.Pro1266=)
c.2922T>A (p.Pro974=)
c.2271T>A (p.Pro757=)
c.1875T>A (p.Pro625=)
c.1617T>A (p.Pro539=)
10g.75028784T>CCA470299615DUSP29,KAT6Bc.3960T>C (p.Pro1320=)
c.3411T>C (p.Pro1137=)
c.3084T>C (p.Pro1028=)
c.2895T>C (p.Pro965=)
n.577-2190A>G
c.*3622-2190A>G (n.*3622-2190A>G)
c.3798T>C (p.Pro1266=)
c.2922T>C (p.Pro974=)
c.2271T>C (p.Pro757=)
c.1875T>C (p.Pro625=)
c.1617T>C (p.Pro539=)
10g.75028784T>GCA470299617DUSP29,KAT6Bc.3960T>G (p.Pro1320=)
c.3411T>G (p.Pro1137=)
c.3084T>G (p.Pro1028=)
c.2895T>G (p.Pro965=)
n.577-2190A>C
c.*3622-2190A>C (n.*3622-2190A>C)
c.3798T>G (p.Pro1266=)
c.2922T>G (p.Pro974=)
c.2271T>G (p.Pro757=)
c.1875T>G (p.Pro625=)
c.1617T>G (p.Pro539=)
10g.75028785C>ACA377294791DUSP29,KAT6Bc.3961C>A (p.Gln1321Lys)
c.3412C>A (p.Gln1138Lys)
c.3085C>A (p.Gln1029Lys)
c.2896C>A (p.Gln966Lys)
n.577-2191G>T
c.*3622-2191G>T (n.*3622-2191G>T)
c.3799C>A (p.Gln1267Lys)
c.2923C>A (p.Gln975Lys)
c.2272C>A (p.Gln758Lys)
c.1876C>A (p.Gln626Lys)
c.1618C>A (p.Gln540Lys)
10g.75028785C=CA1920306460DUSP29,KAT6Bc.3961C= (p.Gln1321=)
c.3412C= (p.Gln1138=)
c.3085C= (p.Gln1029=)
c.2896C= (p.Gln966=)
n.577-2191G=
c.*3622-2191G= (n.*3622-2191G=)
c.3799C= (p.Gln1267=)
c.2923C= (p.Gln975=)
c.2272C= (p.Gln758=)
c.1876C= (p.Gln626=)
c.1618C= (p.Gln540=)
10g.75028785C>GCA377294792DUSP29,KAT6Bc.3961C>G (p.Gln1321Glu)
c.3412C>G (p.Gln1138Glu)
c.3085C>G (p.Gln1029Glu)
c.2896C>G (p.Gln966Glu)
n.577-2191G>C
c.*3622-2191G>C (n.*3622-2191G>C)
c.3799C>G (p.Gln1267Glu)
c.2923C>G (p.Gln975Glu)
c.2272C>G (p.Gln758Glu)
c.1876C>G (p.Gln626Glu)
c.1618C>G (p.Gln540Glu)
 dbSNP COSMIC
10g.75028785C>TCA377294793DUSP29,KAT6Bc.3961C>T (p.Gln1321Ter)
c.3412C>T (p.Gln1138Ter)
c.3085C>T (p.Gln1029Ter)
c.2896C>T (p.Gln966Ter)
n.577-2191G>A
c.*3622-2191G>A (n.*3622-2191G>A)
c.3799C>T (p.Gln1267Ter)
c.2923C>T (p.Gln975Ter)
c.2272C>T (p.Gln758Ter)
c.1876C>T (p.Gln626Ter)
c.1618C>T (p.Gln540Ter)
10g.75028785_75028787delinsCAACA1920306459DUSP29,KAT6Bc.3961_3963delinsCAA (p.Gln1321=)
c.3412_3414delinsCAA (p.Gln1138=)
c.3085_3087delinsCAA (p.Gln1029=)
c.2896_2898delinsCAA (p.Gln966=)
n.577-2193_577-2191delinsTTG
c.*3622-2193_*3622-2191delinsTTG (n.*3622-2193_*3622-2191delinsTTG)
c.3799_3801delinsCAA (p.Gln1267=)
c.2923_2925delinsCAA (p.Gln975=)
c.2272_2274delinsCAA (p.Gln758=)
c.1876_1878delinsCAA (p.Gln626=)
c.1618_1620delinsCAA (p.Gln540=)
10g.75028786A=CA1920306461DUSP29,KAT6Bc.3962A= (p.Gln1321=)
c.3413A= (p.Gln1138=)
c.3086A= (p.Gln1029=)
c.2897A= (p.Gln966=)
n.577-2192T=
c.*3622-2192T= (n.*3622-2192T=)
c.3800A= (p.Gln1267=)
c.2924A= (p.Gln975=)
c.2273A= (p.Gln758=)
c.1877A= (p.Gln626=)
c.1619A= (p.Gln540=)
10g.75028786A>CCA209709313DUSP29,KAT6Bc.3962A>C (p.Gln1321Pro)
c.3413A>C (p.Gln1138Pro)
c.3086A>C (p.Gln1029Pro)
c.2897A>C (p.Gln966Pro)
n.577-2192T>G
c.*3622-2192T>G (n.*3622-2192T>G)
c.3800A>C (p.Gln1267Pro)
c.2924A>C (p.Gln975Pro)
c.2273A>C (p.Gln758Pro)
c.1877A>C (p.Gln626Pro)
c.1619A>C (p.Gln540Pro)
 dbSNP gnomAD v4
10g.75028786A>GCA377294794DUSP29,KAT6Bc.3962A>G (p.Gln1321Arg)
c.3413A>G (p.Gln1138Arg)
c.3086A>G (p.Gln1029Arg)
c.2897A>G (p.Gln966Arg)
n.577-2192T>C
c.*3622-2192T>C (n.*3622-2192T>C)
c.3800A>G (p.Gln1267Arg)
c.2924A>G (p.Gln975Arg)
c.2273A>G (p.Gln758Arg)
c.1877A>G (p.Gln626Arg)
c.1619A>G (p.Gln540Arg)
 ClinVar
10g.75028786A>TCA5564932DUSP29,KAT6Bc.3962A>T (p.Gln1321Leu)
c.3413A>T (p.Gln1138Leu)
c.3086A>T (p.Gln1029Leu)
c.2897A>T (p.Gln966Leu)
n.577-2192T>A
c.*3622-2192T>A (n.*3622-2192T>A)
c.3800A>T (p.Gln1267Leu)
c.2924A>T (p.Gln975Leu)
c.2273A>T (p.Gln758Leu)
c.1877A>T (p.Gln626Leu)
c.1619A>T (p.Gln540Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.75028786_75028787delCA278929DUSP29,KAT6Bc.3962_3963del (p.Gln1321ArgfsTer20)
c.3413_3414del (p.Gln1138ArgfsTer20)
c.3086_3087del (p.Gln1029ArgfsTer20)
c.2897_2898del (p.Gln966ArgfsTer20)
n.577-2193_577-2192del
c.*3622-2193_*3622-2192del (n.*3622-2193_*3622-2192del)
c.3800_3801del (p.Gln1267ArgfsTer20)
c.2924_2925del (p.Gln975ArgfsTer20)
c.2273_2274del (p.Gln758ArgfsTer20)
c.1877_1878del (p.Gln626ArgfsTer20)
c.1619_1620del (p.Gln540ArgfsTer20)
 ClinVar dbSNP
10g.75028787A>CCA377294795DUSP29,KAT6Bc.3963A>C (p.Gln1321His)
c.3414A>C (p.Gln1138His)
c.3087A>C (p.Gln1029His)
c.2898A>C (p.Gln966His)
n.577-2193T>G
c.*3622-2193T>G (n.*3622-2193T>G)
c.3801A>C (p.Gln1267His)
c.2925A>C (p.Gln975His)
c.2274A>C (p.Gln758His)
c.1878A>C (p.Gln626His)
c.1620A>C (p.Gln540His)
10g.75028787A>GCA470299619DUSP29,KAT6Bc.3963A>G (p.Gln1321=)
c.3414A>G (p.Gln1138=)
c.3087A>G (p.Gln1029=)
c.2898A>G (p.Gln966=)
n.577-2193T>C
c.*3622-2193T>C (n.*3622-2193T>C)
c.3801A>G (p.Gln1267=)
c.2925A>G (p.Gln975=)
c.2274A>G (p.Gln758=)
c.1878A>G (p.Gln626=)
c.1620A>G (p.Gln540=)
10g.75028787A>TCA377294796DUSP29,KAT6Bc.3963A>T (p.Gln1321His)
c.3414A>T (p.Gln1138His)
c.3087A>T (p.Gln1029His)
c.2898A>T (p.Gln966His)
n.577-2193T>A
c.*3622-2193T>A (n.*3622-2193T>A)
c.3801A>T (p.Gln1267His)
c.2925A>T (p.Gln975His)
c.2274A>T (p.Gln758His)
c.1878A>T (p.Gln626His)
c.1620A>T (p.Gln540His)
10g.75028788G>ACA377294797DUSP29,KAT6Bc.3964G>A (p.Glu1322Lys)
c.3415G>A (p.Glu1139Lys)
c.3088G>A (p.Glu1030Lys)
c.2899G>A (p.Glu967Lys)
n.577-2194C>T
c.*3622-2194C>T (n.*3622-2194C>T)
c.3802G>A (p.Glu1268Lys)
c.2926G>A (p.Glu976Lys)
c.2275G>A (p.Glu759Lys)
c.1879G>A (p.Glu627Lys)
c.1621G>A (p.Glu541Lys)
10g.75028788G>CCA377294798DUSP29,KAT6Bc.3964G>C (p.Glu1322Gln)
c.3415G>C (p.Glu1139Gln)
c.3088G>C (p.Glu1030Gln)
c.2899G>C (p.Glu967Gln)
n.577-2194C>G
c.*3622-2194C>G (n.*3622-2194C>G)
c.3802G>C (p.Glu1268Gln)
c.2926G>C (p.Glu976Gln)
c.2275G>C (p.Glu759Gln)
c.1879G>C (p.Glu627Gln)
c.1621G>C (p.Glu541Gln)
10g.75028788G>TCA377294799DUSP29,KAT6Bc.3964G>T (p.Glu1322Ter)
c.3415G>T (p.Glu1139Ter)
c.3088G>T (p.Glu1030Ter)
c.2899G>T (p.Glu967Ter)
n.577-2194C>A
c.*3622-2194C>A (n.*3622-2194C>A)
c.3802G>T (p.Glu1268Ter)
c.2926G>T (p.Glu976Ter)
c.2275G>T (p.Glu759Ter)
c.1879G>T (p.Glu627Ter)
c.1621G>T (p.Glu541Ter)
10g.75028789A>CCA377294800DUSP29,KAT6Bc.3965A>C (p.Glu1322Ala)
c.3416A>C (p.Glu1139Ala)
c.3089A>C (p.Glu1030Ala)
c.2900A>C (p.Glu967Ala)
n.577-2195T>G
c.*3622-2195T>G (n.*3622-2195T>G)
c.3803A>C (p.Glu1268Ala)
c.2927A>C (p.Glu976Ala)
c.2276A>C (p.Glu759Ala)
c.1880A>C (p.Glu627Ala)
c.1622A>C (p.Glu541Ala)
10g.75028789A>GCA377294803DUSP29,KAT6Bc.3965A>G (p.Glu1322Gly)
c.3416A>G (p.Glu1139Gly)
c.3089A>G (p.Glu1030Gly)
c.2900A>G (p.Glu967Gly)
n.577-2195T>C
c.*3622-2195T>C (n.*3622-2195T>C)
c.3803A>G (p.Glu1268Gly)
c.2927A>G (p.Glu976Gly)
c.2276A>G (p.Glu759Gly)
c.1880A>G (p.Glu627Gly)
c.1622A>G (p.Glu541Gly)
10g.75028789A>TCA377294802DUSP29,KAT6Bc.3965A>T (p.Glu1322Val)
c.3416A>T (p.Glu1139Val)
c.3089A>T (p.Glu1030Val)
c.2900A>T (p.Glu967Val)
n.577-2195T>A
c.*3622-2195T>A (n.*3622-2195T>A)
c.3803A>T (p.Glu1268Val)
c.2927A>T (p.Glu976Val)
c.2276A>T (p.Glu759Val)
c.1880A>T (p.Glu627Val)
c.1622A>T (p.Glu541Val)
10g.75028790G>ACA470299622DUSP29,KAT6Bc.3966G>A (p.Glu1322=)
c.3417G>A (p.Glu1139=)
c.3090G>A (p.Glu1030=)
c.2901G>A (p.Glu967=)
n.577-2196C>T
c.*3622-2196C>T (n.*3622-2196C>T)
c.3804G>A (p.Glu1268=)
c.2928G>A (p.Glu976=)
c.2277G>A (p.Glu759=)
c.1881G>A (p.Glu627=)
c.1623G>A (p.Glu541=)
10g.75028790G>CCA377294805DUSP29,KAT6Bc.3966G>C (p.Glu1322Asp)
c.3417G>C (p.Glu1139Asp)
c.3090G>C (p.Glu1030Asp)
c.2901G>C (p.Glu967Asp)
n.577-2196C>G
c.*3622-2196C>G (n.*3622-2196C>G)
c.3804G>C (p.Glu1268Asp)
c.2928G>C (p.Glu976Asp)
c.2277G>C (p.Glu759Asp)
c.1881G>C (p.Glu627Asp)
c.1623G>C (p.Glu541Asp)
10g.75028790G>TCA377294806DUSP29,KAT6Bc.3966G>T (p.Glu1322Asp)
c.3417G>T (p.Glu1139Asp)
c.3090G>T (p.Glu1030Asp)
c.2901G>T (p.Glu967Asp)
n.577-2196C>A
c.*3622-2196C>A (n.*3622-2196C>A)
c.3804G>T (p.Glu1268Asp)
c.2928G>T (p.Glu976Asp)
c.2277G>T (p.Glu759Asp)
c.1881G>T (p.Glu627Asp)
c.1623G>T (p.Glu541Asp)
10g.75028791G>ACA377294809DUSP29,KAT6Bc.3967G>A (p.Glu1323Lys)
c.3418G>A (p.Glu1140Lys)
c.3091G>A (p.Glu1031Lys)
c.2902G>A (p.Glu968Lys)
n.577-2197C>T
c.*3622-2197C>T (n.*3622-2197C>T)
c.3805G>A (p.Glu1269Lys)
c.2929G>A (p.Glu977Lys)
c.2278G>A (p.Glu760Lys)
c.1882G>A (p.Glu628Lys)
c.1624G>A (p.Glu542Lys)
 gnomAD v4
10g.75028791G>CCA377294812DUSP29,KAT6Bc.3967G>C (p.Glu1323Gln)
c.3418G>C (p.Glu1140Gln)
c.3091G>C (p.Glu1031Gln)
c.2902G>C (p.Glu968Gln)
n.577-2197C>G
c.*3622-2197C>G (n.*3622-2197C>G)
c.3805G>C (p.Glu1269Gln)
c.2929G>C (p.Glu977Gln)
c.2278G>C (p.Glu760Gln)
c.1882G>C (p.Glu628Gln)
c.1624G>C (p.Glu542Gln)
10g.75028791G>TCA377294810DUSP29,KAT6Bc.3967G>T (p.Glu1323Ter)
c.3418G>T (p.Glu1140Ter)
c.3091G>T (p.Glu1031Ter)
c.2902G>T (p.Glu968Ter)
n.577-2197C>A
c.*3622-2197C>A (n.*3622-2197C>A)
c.3805G>T (p.Glu1269Ter)
c.2929G>T (p.Glu977Ter)
c.2278G>T (p.Glu760Ter)
c.1882G>T (p.Glu628Ter)
c.1624G>T (p.Glu542Ter)
10g.75028792A=CA1920306462DUSP29,KAT6Bc.3968A= (p.Glu1323=)
c.3419A= (p.Glu1140=)
c.3092A= (p.Glu1031=)
c.2903A= (p.Glu968=)
n.577-2198T=
c.*3622-2198T= (n.*3622-2198T=)
c.3806A= (p.Glu1269=)
c.2930A= (p.Glu977=)
c.2279A= (p.Glu760=)
c.1883A= (p.Glu628=)
c.1625A= (p.Glu542=)
10g.75028792A>CCA377294814DUSP29,KAT6Bc.3968A>C (p.Glu1323Ala)
c.3419A>C (p.Glu1140Ala)
c.3092A>C (p.Glu1031Ala)
c.2903A>C (p.Glu968Ala)
n.577-2198T>G
c.*3622-2198T>G (n.*3622-2198T>G)
c.3806A>C (p.Glu1269Ala)
c.2930A>C (p.Glu977Ala)
c.2279A>C (p.Glu760Ala)
c.1883A>C (p.Glu628Ala)
c.1625A>C (p.Glu542Ala)
10g.75028792A>GCA377294816DUSP29,KAT6Bc.3968A>G (p.Glu1323Gly)
c.3419A>G (p.Glu1140Gly)
c.3092A>G (p.Glu1031Gly)
c.2903A>G (p.Glu968Gly)
n.577-2198T>C
c.*3622-2198T>C (n.*3622-2198T>C)
c.3806A>G (p.Glu1269Gly)
c.2930A>G (p.Glu977Gly)
c.2279A>G (p.Glu760Gly)
c.1883A>G (p.Glu628Gly)
c.1625A>G (p.Glu542Gly)
10g.75028792A>TCA5564933DUSP29,KAT6Bc.3968A>T (p.Glu1323Val)
c.3419A>T (p.Glu1140Val)
c.3092A>T (p.Glu1031Val)
c.2903A>T (p.Glu968Val)
n.577-2198T>A
c.*3622-2198T>A (n.*3622-2198T>A)
c.3806A>T (p.Glu1269Val)
c.2930A>T (p.Glu977Val)
c.2279A>T (p.Glu760Val)
c.1883A>T (p.Glu628Val)
c.1625A>T (p.Glu542Val)
 dbSNP ExAC gnomAD v2
10g.75028793A>CCA377294818DUSP29,KAT6Bc.3969A>C (p.Glu1323Asp)
c.3420A>C (p.Glu1140Asp)
c.3093A>C (p.Glu1031Asp)
c.2904A>C (p.Glu968Asp)
n.577-2199T>G
c.*3622-2199T>G (n.*3622-2199T>G)
c.3807A>C (p.Glu1269Asp)
c.2931A>C (p.Glu977Asp)
c.2280A>C (p.Glu760Asp)
c.1884A>C (p.Glu628Asp)
c.1626A>C (p.Glu542Asp)
10g.75028793A>GCA470299624DUSP29,KAT6Bc.3969A>G (p.Glu1323=)
c.3420A>G (p.Glu1140=)
c.3093A>G (p.Glu1031=)
c.2904A>G (p.Glu968=)
n.577-2199T>C
c.*3622-2199T>C (n.*3622-2199T>C)
c.3807A>G (p.Glu1269=)
c.2931A>G (p.Glu977=)
c.2280A>G (p.Glu760=)
c.1884A>G (p.Glu628=)
c.1626A>G (p.Glu542=)
10g.75028793A>TCA377294819DUSP29,KAT6Bc.3969A>T (p.Glu1323Asp)
c.3420A>T (p.Glu1140Asp)
c.3093A>T (p.Glu1031Asp)
c.2904A>T (p.Glu968Asp)
n.577-2199T>A
c.*3622-2199T>A (n.*3622-2199T>A)
c.3807A>T (p.Glu1269Asp)
c.2931A>T (p.Glu977Asp)
c.2280A>T (p.Glu760Asp)
c.1884A>T (p.Glu628Asp)
c.1626A>T (p.Glu542Asp)
10g.75028798_75028811delCA2499220381DUSP29,KAT6Bc.3974_3987del (p.Arg1325MetfsTer12)
c.3425_3438del (p.Arg1142MetfsTer12)
c.3098_3111del (p.Arg1033MetfsTer12)
c.2909_2922del (p.Arg970MetfsTer12)
n.577-2212_577-2199del
c.*3622-2212_*3622-2199del (n.*3622-2212_*3622-2199del)
c.3812_3825del (p.Arg1271MetfsTer12)
c.2936_2949del (p.Arg979MetfsTer12)
c.2285_2298del (p.Arg762MetfsTer12)
c.1889_1902del (p.Arg630MetfsTer12)
c.1631_1644del (p.Arg544MetfsTer12)
 ClinVar dbSNP
10g.75028794A>CCA377294821DUSP29,KAT6Bc.3970A>C (p.Asn1324His)
c.3421A>C (p.Asn1141His)
c.3094A>C (p.Asn1032His)
c.2905A>C (p.Asn969His)
n.577-2200T>G
c.*3622-2200T>G (n.*3622-2200T>G)
c.3808A>C (p.Asn1270His)
c.2932A>C (p.Asn978His)
c.2281A>C (p.Asn761His)
c.1885A>C (p.Asn629His)
c.1627A>C (p.Asn543His)
10g.75028794A>GCA377294825DUSP29,KAT6Bc.3970A>G (p.Asn1324Asp)
c.3421A>G (p.Asn1141Asp)
c.3094A>G (p.Asn1032Asp)
c.2905A>G (p.Asn969Asp)
n.577-2200T>C
c.*3622-2200T>C (n.*3622-2200T>C)
c.3808A>G (p.Asn1270Asp)
c.2932A>G (p.Asn978Asp)
c.2281A>G (p.Asn761Asp)
c.1885A>G (p.Asn629Asp)
c.1627A>G (p.Asn543Asp)
 gnomAD v4
10g.75028794A>TCA377294823DUSP29,KAT6Bc.3970A>T (p.Asn1324Tyr)
c.3421A>T (p.Asn1141Tyr)
c.3094A>T (p.Asn1032Tyr)
c.2905A>T (p.Asn969Tyr)
n.577-2200T>A
c.*3622-2200T>A (n.*3622-2200T>A)
c.3808A>T (p.Asn1270Tyr)
c.2932A>T (p.Asn978Tyr)
c.2281A>T (p.Asn761Tyr)
c.1885A>T (p.Asn629Tyr)
c.1627A>T (p.Asn543Tyr)
10g.75028795A>CCA377294827DUSP29,KAT6Bc.3971A>C (p.Asn1324Thr)
c.3422A>C (p.Asn1141Thr)
c.3095A>C (p.Asn1032Thr)
c.2906A>C (p.Asn969Thr)
n.577-2201T>G
c.*3622-2201T>G (n.*3622-2201T>G)
c.3809A>C (p.Asn1270Thr)
c.2933A>C (p.Asn978Thr)
c.2282A>C (p.Asn761Thr)
c.1886A>C (p.Asn629Thr)
c.1628A>C (p.Asn543Thr)
10g.75028795A>GCA377294829DUSP29,KAT6Bc.3971A>G (p.Asn1324Ser)
c.3422A>G (p.Asn1141Ser)
c.3095A>G (p.Asn1032Ser)
c.2906A>G (p.Asn969Ser)
n.577-2201T>C
c.*3622-2201T>C (n.*3622-2201T>C)
c.3809A>G (p.Asn1270Ser)
c.2933A>G (p.Asn978Ser)
c.2282A>G (p.Asn761Ser)
c.1886A>G (p.Asn629Ser)
c.1628A>G (p.Asn543Ser)
10g.75028795A>TCA377294831DUSP29,KAT6Bc.3971A>T (p.Asn1324Ile)
c.3422A>T (p.Asn1141Ile)
c.3095A>T (p.Asn1032Ile)
c.2906A>T (p.Asn969Ile)
n.577-2201T>A
c.*3622-2201T>A (n.*3622-2201T>A)
c.3809A>T (p.Asn1270Ile)
c.2933A>T (p.Asn978Ile)
c.2282A>T (p.Asn761Ile)
c.1886A>T (p.Asn629Ile)
c.1628A>T (p.Asn543Ile)
10g.75028796C>ACA377294833DUSP29,KAT6Bc.3972C>A (p.Asn1324Lys)
c.3423C>A (p.Asn1141Lys)
c.3096C>A (p.Asn1032Lys)
c.2907C>A (p.Asn969Lys)
n.577-2202G>T
c.*3622-2202G>T (n.*3622-2202G>T)
c.3810C>A (p.Asn1270Lys)
c.2934C>A (p.Asn978Lys)
c.2283C>A (p.Asn761Lys)
c.1887C>A (p.Asn629Lys)
c.1629C>A (p.Asn543Lys)
10g.75028796C=CA1920306463DUSP29,KAT6Bc.3972C= (p.Asn1324=)
c.3423C= (p.Asn1141=)
c.3096C= (p.Asn1032=)
c.2907C= (p.Asn969=)
n.577-2202G=
c.*3622-2202G= (n.*3622-2202G=)
c.3810C= (p.Asn1270=)
c.2934C= (p.Asn978=)
c.2283C= (p.Asn761=)
c.1887C= (p.Asn629=)
c.1629C= (p.Asn543=)
10g.75028796C>GCA377294835DUSP29,KAT6Bc.3972C>G (p.Asn1324Lys)
c.3423C>G (p.Asn1141Lys)
c.3096C>G (p.Asn1032Lys)
c.2907C>G (p.Asn969Lys)
n.577-2202G>C
c.*3622-2202G>C (n.*3622-2202G>C)
c.3810C>G (p.Asn1270Lys)
c.2934C>G (p.Asn978Lys)
c.2283C>G (p.Asn761Lys)
c.1887C>G (p.Asn629Lys)
c.1629C>G (p.Asn543Lys)
10g.75028796C>TCA5564934DUSP29,KAT6Bc.3972C>T (p.Asn1324=)
c.3423C>T (p.Asn1141=)
c.3096C>T (p.Asn1032=)
c.2907C>T (p.Asn969=)
n.577-2202G>A
c.*3622-2202G>A (n.*3622-2202G>A)
c.3810C>T (p.Asn1270=)
c.2934C>T (p.Asn978=)
c.2283C>T (p.Asn761=)
c.1887C>T (p.Asn629=)
c.1629C>T (p.Asn543=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.75028797A>CCA470299626DUSP29,KAT6Bc.3973A>C (p.Arg1325=)
c.3424A>C (p.Arg1142=)
c.3097A>C (p.Arg1033=)
c.2908A>C (p.Arg970=)
n.577-2203T>G
c.*3622-2203T>G (n.*3622-2203T>G)
c.3811A>C (p.Arg1271=)
c.2935A>C (p.Arg979=)
c.2284A>C (p.Arg762=)
c.1888A>C (p.Arg630=)
c.1630A>C (p.Arg544=)
10g.75028797A>GCA377294838DUSP29,KAT6Bc.3973A>G (p.Arg1325Gly)
c.3424A>G (p.Arg1142Gly)
c.3097A>G (p.Arg1033Gly)
c.2908A>G (p.Arg970Gly)
n.577-2203T>C
c.*3622-2203T>C (n.*3622-2203T>C)
c.3811A>G (p.Arg1271Gly)
c.2935A>G (p.Arg979Gly)
c.2284A>G (p.Arg762Gly)
c.1888A>G (p.Arg630Gly)
c.1630A>G (p.Arg544Gly)
10g.75028797A>TCA377294840DUSP29,KAT6Bc.3973A>T (p.Arg1325Ter)
c.3424A>T (p.Arg1142Ter)
c.3097A>T (p.Arg1033Ter)
c.2908A>T (p.Arg970Ter)
n.577-2203T>A
c.*3622-2203T>A (n.*3622-2203T>A)
c.3811A>T (p.Arg1271Ter)
c.2935A>T (p.Arg979Ter)
c.2284A>T (p.Arg762Ter)
c.1888A>T (p.Arg630Ter)
c.1630A>T (p.Arg544Ter)
10g.75028798G>ACA377294843DUSP29,KAT6Bc.3974G>A (p.Arg1325Lys)
c.3425G>A (p.Arg1142Lys)
c.3098G>A (p.Arg1033Lys)
c.2909G>A (p.Arg970Lys)
n.577-2204C>T
c.*3622-2204C>T (n.*3622-2204C>T)
c.3812G>A (p.Arg1271Lys)
c.2936G>A (p.Arg979Lys)
c.2285G>A (p.Arg762Lys)
c.1889G>A (p.Arg630Lys)
c.1631G>A (p.Arg544Lys)
10g.75028798G>CCA377294844DUSP29,KAT6Bc.3974G>C (p.Arg1325Thr)
c.3425G>C (p.Arg1142Thr)
c.3098G>C (p.Arg1033Thr)
c.2909G>C (p.Arg970Thr)
n.577-2204C>G
c.*3622-2204C>G (n.*3622-2204C>G)
c.3812G>C (p.Arg1271Thr)
c.2936G>C (p.Arg979Thr)
c.2285G>C (p.Arg762Thr)
c.1889G>C (p.Arg630Thr)
c.1631G>C (p.Arg544Thr)
10g.75028798G>TCA377294846DUSP29,KAT6Bc.3974G>T (p.Arg1325Ile)
c.3425G>T (p.Arg1142Ile)
c.3098G>T (p.Arg1033Ile)
c.2909G>T (p.Arg970Ile)
n.577-2204C>A
c.*3622-2204C>A (n.*3622-2204C>A)
c.3812G>T (p.Arg1271Ile)
c.2936G>T (p.Arg979Ile)
c.2285G>T (p.Arg762Ile)
c.1889G>T (p.Arg630Ile)
c.1631G>T (p.Arg544Ile)
10g.75028799A>CCA377294848DUSP29,KAT6Bc.3975A>C (p.Arg1325Ser)
c.3426A>C (p.Arg1142Ser)
c.3099A>C (p.Arg1033Ser)
c.2910A>C (p.Arg970Ser)
n.577-2205T>G
c.*3622-2205T>G (n.*3622-2205T>G)
c.3813A>C (p.Arg1271Ser)
c.2937A>C (p.Arg979Ser)
c.2286A>C (p.Arg762Ser)
c.1890A>C (p.Arg630Ser)
c.1632A>C (p.Arg544Ser)
10g.75028799A>GCA470299628DUSP29,KAT6Bc.3975A>G (p.Arg1325=)
c.3426A>G (p.Arg1142=)
c.3099A>G (p.Arg1033=)
c.2910A>G (p.Arg970=)
n.577-2205T>C
c.*3622-2205T>C (n.*3622-2205T>C)
c.3813A>G (p.Arg1271=)
c.2937A>G (p.Arg979=)
c.2286A>G (p.Arg762=)
c.1890A>G (p.Arg630=)
c.1632A>G (p.Arg544=)
10g.75028799A>TCA377294850DUSP29,KAT6Bc.3975A>T (p.Arg1325Ser)
c.3426A>T (p.Arg1142Ser)
c.3099A>T (p.Arg1033Ser)
c.2910A>T (p.Arg970Ser)
n.577-2205T>A
c.*3622-2205T>A (n.*3622-2205T>A)
c.3813A>T (p.Arg1271Ser)
c.2937A>T (p.Arg979Ser)
c.2286A>T (p.Arg762Ser)
c.1890A>T (p.Arg630Ser)
c.1632A>T (p.Arg544Ser)
10g.75028800A>CCA470299629DUSP29,KAT6Bc.3976A>C (p.Arg1326=)
c.3427A>C (p.Arg1143=)
c.3100A>C (p.Arg1034=)
c.2911A>C (p.Arg971=)
n.577-2206T>G
c.*3622-2206T>G (n.*3622-2206T>G)
c.3814A>C (p.Arg1272=)
c.2938A>C (p.Arg980=)
c.2287A>C (p.Arg763=)
c.1891A>C (p.Arg631=)
c.1633A>C (p.Arg545=)
10g.75028800A>GCA377294854DUSP29,KAT6Bc.3976A>G (p.Arg1326Gly)
c.3427A>G (p.Arg1143Gly)
c.3100A>G (p.Arg1034Gly)
c.2911A>G (p.Arg971Gly)
n.577-2206T>C
c.*3622-2206T>C (n.*3622-2206T>C)
c.3814A>G (p.Arg1272Gly)
c.2938A>G (p.Arg980Gly)
c.2287A>G (p.Arg763Gly)
c.1891A>G (p.Arg631Gly)
c.1633A>G (p.Arg545Gly)
10g.75028800A>TCA377294852DUSP29,KAT6Bc.3976A>T (p.Arg1326Trp)
c.3427A>T (p.Arg1143Trp)
c.3100A>T (p.Arg1034Trp)
c.2911A>T (p.Arg971Trp)
n.577-2206T>A
c.*3622-2206T>A (n.*3622-2206T>A)
c.3814A>T (p.Arg1272Trp)
c.2938A>T (p.Arg980Trp)
c.2287A>T (p.Arg763Trp)
c.1891A>T (p.Arg631Trp)
c.1633A>T (p.Arg545Trp)
10g.75028801G>ACA5564935DUSP29,KAT6Bc.3977G>A (p.Arg1326Lys)
c.3428G>A (p.Arg1143Lys)
c.3101G>A (p.Arg1034Lys)
c.2912G>A (p.Arg971Lys)
n.577-2207C>T
c.*3622-2207C>T (n.*3622-2207C>T)
c.3815G>A (p.Arg1272Lys)
c.2939G>A (p.Arg980Lys)
c.2288G>A (p.Arg763Lys)
c.1892G>A (p.Arg631Lys)
c.1634G>A (p.Arg545Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.75028801G>CCA377294856DUSP29,KAT6Bc.3977G>C (p.Arg1326Thr)
c.3428G>C (p.Arg1143Thr)
c.3101G>C (p.Arg1034Thr)
c.2912G>C (p.Arg971Thr)
n.577-2207C>G
c.*3622-2207C>G (n.*3622-2207C>G)
c.3815G>C (p.Arg1272Thr)
c.2939G>C (p.Arg980Thr)
c.2288G>C (p.Arg763Thr)
c.1892G>C (p.Arg631Thr)
c.1634G>C (p.Arg545Thr)
10g.75028801G=CA1920306464DUSP29,KAT6Bc.3977G= (p.Arg1326=)
c.3428G= (p.Arg1143=)
c.3101G= (p.Arg1034=)
c.2912G= (p.Arg971=)
n.577-2207C=
c.*3622-2207C= (n.*3622-2207C=)
c.3815G= (p.Arg1272=)
c.2939G= (p.Arg980=)
c.2288G= (p.Arg763=)
c.1892G= (p.Arg631=)
c.1634G= (p.Arg545=)
10g.75028801G>TCA377294859DUSP29,KAT6Bc.3977G>T (p.Arg1326Met)
c.3428G>T (p.Arg1143Met)
c.3101G>T (p.Arg1034Met)
c.2912G>T (p.Arg971Met)
n.577-2207C>A
c.*3622-2207C>A (n.*3622-2207C>A)
c.3815G>T (p.Arg1272Met)
c.2939G>T (p.Arg980Met)
c.2288G>T (p.Arg763Met)
c.1892G>T (p.Arg631Met)
c.1634G>T (p.Arg545Met)
10g.75028802G>ACA470299630DUSP29,KAT6Bc.3978G>A (p.Arg1326=)
c.3429G>A (p.Arg1143=)
c.3102G>A (p.Arg1034=)
c.2913G>A (p.Arg971=)
n.577-2208C>T
c.*3622-2208C>T (n.*3622-2208C>T)
c.3816G>A (p.Arg1272=)
c.2940G>A (p.Arg980=)
c.2289G>A (p.Arg763=)
c.1893G>A (p.Arg631=)
c.1635G>A (p.Arg545=)
10g.75028802G>CCA377294861DUSP29,KAT6Bc.3978G>C (p.Arg1326Ser)
c.3429G>C (p.Arg1143Ser)
c.3102G>C (p.Arg1034Ser)
c.2913G>C (p.Arg971Ser)
n.577-2208C>G
c.*3622-2208C>G (n.*3622-2208C>G)
c.3816G>C (p.Arg1272Ser)
c.2940G>C (p.Arg980Ser)
c.2289G>C (p.Arg763Ser)
c.1893G>C (p.Arg631Ser)
c.1635G>C (p.Arg545Ser)
10g.75028802G>TCA377294863DUSP29,KAT6Bc.3978G>T (p.Arg1326Ser)
c.3429G>T (p.Arg1143Ser)
c.3102G>T (p.Arg1034Ser)
c.2913G>T (p.Arg971Ser)
n.577-2208C>A
c.*3622-2208C>A (n.*3622-2208C>A)
c.3816G>T (p.Arg1272Ser)
c.2940G>T (p.Arg980Ser)
c.2289G>T (p.Arg763Ser)
c.1893G>T (p.Arg631Ser)
c.1635G>T (p.Arg545Ser)
10g.75028803G>ACA377294865DUSP29,KAT6Bc.3979G>A (p.Glu1327Lys)
c.3430G>A (p.Glu1144Lys)
c.3103G>A (p.Glu1035Lys)
c.2914G>A (p.Glu972Lys)
n.577-2209C>T
c.*3622-2209C>T (n.*3622-2209C>T)
c.3817G>A (p.Glu1273Lys)
c.2941G>A (p.Glu981Lys)
c.2290G>A (p.Glu764Lys)
c.1894G>A (p.Glu632Lys)
c.1636G>A (p.Glu546Lys)
10g.75028803G>CCA377294867DUSP29,KAT6Bc.3979G>C (p.Glu1327Gln)
c.3430G>C (p.Glu1144Gln)
c.3103G>C (p.Glu1035Gln)
c.2914G>C (p.Glu972Gln)
n.577-2209C>G
c.*3622-2209C>G (n.*3622-2209C>G)
c.3817G>C (p.Glu1273Gln)
c.2941G>C (p.Glu981Gln)
c.2290G>C (p.Glu764Gln)
c.1894G>C (p.Glu632Gln)
c.1636G>C (p.Glu546Gln)
10g.75028803G>TCA377294869DUSP29,KAT6Bc.3979G>T (p.Glu1327Ter)
c.3430G>T (p.Glu1144Ter)
c.3103G>T (p.Glu1035Ter)
c.2914G>T (p.Glu972Ter)
n.577-2209C>A
c.*3622-2209C>A (n.*3622-2209C>A)
c.3817G>T (p.Glu1273Ter)
c.2941G>T (p.Glu981Ter)
c.2290G>T (p.Glu764Ter)
c.1894G>T (p.Glu632Ter)
c.1636G>T (p.Glu546Ter)
10g.75028804A>CCA377294871DUSP29,KAT6Bc.3980A>C (p.Glu1327Ala)
c.3431A>C (p.Glu1144Ala)
c.3104A>C (p.Glu1035Ala)
c.2915A>C (p.Glu972Ala)
n.577-2210T>G
c.*3622-2210T>G (n.*3622-2210T>G)
c.3818A>C (p.Glu1273Ala)
c.2942A>C (p.Glu981Ala)
c.2291A>C (p.Glu764Ala)
c.1895A>C (p.Glu632Ala)
c.1637A>C (p.Glu546Ala)
10g.75028804A>GCA377294873DUSP29,KAT6Bc.3980A>G (p.Glu1327Gly)
c.3431A>G (p.Glu1144Gly)
c.3104A>G (p.Glu1035Gly)
c.2915A>G (p.Glu972Gly)
n.577-2210T>C
c.*3622-2210T>C (n.*3622-2210T>C)
c.3818A>G (p.Glu1273Gly)
c.2942A>G (p.Glu981Gly)
c.2291A>G (p.Glu764Gly)
c.1895A>G (p.Glu632Gly)
c.1637A>G (p.Glu546Gly)
10g.75028804A>TCA377294875DUSP29,KAT6Bc.3980A>T (p.Glu1327Val)
c.3431A>T (p.Glu1144Val)
c.3104A>T (p.Glu1035Val)
c.2915A>T (p.Glu972Val)
n.577-2210T>A
c.*3622-2210T>A (n.*3622-2210T>A)
c.3818A>T (p.Glu1273Val)
c.2942A>T (p.Glu981Val)
c.2291A>T (p.Glu764Val)
c.1895A>T (p.Glu632Val)
c.1637A>T (p.Glu546Val)
10g.75028805A>CCA377294877DUSP29,KAT6Bc.3981A>C (p.Glu1327Asp)
c.3432A>C (p.Glu1144Asp)
c.3105A>C (p.Glu1035Asp)
c.2916A>C (p.Glu972Asp)
n.577-2211T>G
c.*3622-2211T>G (n.*3622-2211T>G)
c.3819A>C (p.Glu1273Asp)
c.2943A>C (p.Glu981Asp)
c.2292A>C (p.Glu764Asp)
c.1896A>C (p.Glu632Asp)
c.1638A>C (p.Glu546Asp)
10g.75028805A>GCA470299634DUSP29,KAT6Bc.3981A>G (p.Glu1327=)
c.3432A>G (p.Glu1144=)
c.3105A>G (p.Glu1035=)
c.2916A>G (p.Glu972=)
n.577-2211T>C
c.*3622-2211T>C (n.*3622-2211T>C)
c.3819A>G (p.Glu1273=)
c.2943A>G (p.Glu981=)
c.2292A>G (p.Glu764=)
c.1896A>G (p.Glu632=)
c.1638A>G (p.Glu546=)
 gnomAD v4
10g.75028805A>TCA377294879DUSP29,KAT6Bc.3981A>T (p.Glu1327Asp)
c.3432A>T (p.Glu1144Asp)
c.3105A>T (p.Glu1035Asp)
c.2916A>T (p.Glu972Asp)
n.577-2211T>A
c.*3622-2211T>A (n.*3622-2211T>A)
c.3819A>T (p.Glu1273Asp)
c.2943A>T (p.Glu981Asp)
c.2292A>T (p.Glu764Asp)
c.1896A>T (p.Glu632Asp)
c.1638A>T (p.Glu546Asp)
10g.75028806G>ACA377294881DUSP29,KAT6Bc.3982G>A (p.Glu1328Lys)
c.3433G>A (p.Glu1145Lys)
c.3106G>A (p.Glu1036Lys)
c.2917G>A (p.Glu973Lys)
n.577-2212C>T
c.*3622-2212C>T (n.*3622-2212C>T)
c.3820G>A (p.Glu1274Lys)
c.2944G>A (p.Glu982Lys)
c.2293G>A (p.Glu765Lys)
c.1897G>A (p.Glu633Lys)
c.1639G>A (p.Glu547Lys)
 gnomAD v4
10g.75028806G>CCA377294884DUSP29,KAT6Bc.3982G>C (p.Glu1328Gln)
c.3433G>C (p.Glu1145Gln)
c.3106G>C (p.Glu1036Gln)
c.2917G>C (p.Glu973Gln)
n.577-2212C>G
c.*3622-2212C>G (n.*3622-2212C>G)
c.3820G>C (p.Glu1274Gln)
c.2944G>C (p.Glu982Gln)
c.2293G>C (p.Glu765Gln)
c.1897G>C (p.Glu633Gln)
c.1639G>C (p.Glu547Gln)
10g.75028806G>TCA377294882DUSP29,KAT6Bc.3982G>T (p.Glu1328Ter)
c.3433G>T (p.Glu1145Ter)
c.3106G>T (p.Glu1036Ter)
c.2917G>T (p.Glu973Ter)
n.577-2212C>A
c.*3622-2212C>A (n.*3622-2212C>A)
c.3820G>T (p.Glu1274Ter)
c.2944G>T (p.Glu982Ter)
c.2293G>T (p.Glu765Ter)
c.1897G>T (p.Glu633Ter)
c.1639G>T (p.Glu547Ter)
10g.75028807A>CCA377294887DUSP29,KAT6Bc.3983A>C (p.Glu1328Ala)
c.3434A>C (p.Glu1145Ala)
c.3107A>C (p.Glu1036Ala)
c.2918A>C (p.Glu973Ala)
n.577-2213T>G
c.*3622-2213T>G (n.*3622-2213T>G)
c.3821A>C (p.Glu1274Ala)
c.2945A>C (p.Glu982Ala)
c.2294A>C (p.Glu765Ala)
c.1898A>C (p.Glu633Ala)
c.1640A>C (p.Glu547Ala)
10g.75028807A>GCA377294888DUSP29,KAT6Bc.3983A>G (p.Glu1328Gly)
c.3434A>G (p.Glu1145Gly)
c.3107A>G (p.Glu1036Gly)
c.2918A>G (p.Glu973Gly)
n.577-2213T>C
c.*3622-2213T>C (n.*3622-2213T>C)
c.3821A>G (p.Glu1274Gly)
c.2945A>G (p.Glu982Gly)
c.2294A>G (p.Glu765Gly)
c.1898A>G (p.Glu633Gly)
c.1640A>G (p.Glu547Gly)
10g.75028807A>TCA377294890DUSP29,KAT6Bc.3983A>T (p.Glu1328Val)
c.3434A>T (p.Glu1145Val)
c.3107A>T (p.Glu1036Val)
c.2918A>T (p.Glu973Val)
n.577-2213T>A
c.*3622-2213T>A (n.*3622-2213T>A)
c.3821A>T (p.Glu1274Val)
c.2945A>T (p.Glu982Val)
c.2294A>T (p.Glu765Val)
c.1898A>T (p.Glu633Val)
c.1640A>T (p.Glu547Val)
10g.75028808A>CCA377294893DUSP29,KAT6Bc.3984A>C (p.Glu1328Asp)
c.3435A>C (p.Glu1145Asp)
c.3108A>C (p.Glu1036Asp)
c.2919A>C (p.Glu973Asp)
n.577-2214T>G
c.*3622-2214T>G (n.*3622-2214T>G)
c.3822A>C (p.Glu1274Asp)
c.2946A>C (p.Glu982Asp)
c.2295A>C (p.Glu765Asp)
c.1899A>C (p.Glu633Asp)
c.1641A>C (p.Glu547Asp)
10g.75028808A>GCA470299635DUSP29,KAT6Bc.3984A>G (p.Glu1328=)
c.3435A>G (p.Glu1145=)
c.3108A>G (p.Glu1036=)
c.2919A>G (p.Glu973=)
n.577-2214T>C
c.*3622-2214T>C (n.*3622-2214T>C)
c.3822A>G (p.Glu1274=)
c.2946A>G (p.Glu982=)
c.2295A>G (p.Glu765=)
c.1899A>G (p.Glu633=)
c.1641A>G (p.Glu547=)
 COSMIC
10g.75028808A>TCA377294894DUSP29,KAT6Bc.3984A>T (p.Glu1328Asp)
c.3435A>T (p.Glu1145Asp)
c.3108A>T (p.Glu1036Asp)
c.2919A>T (p.Glu973Asp)
n.577-2214T>A
c.*3622-2214T>A (n.*3622-2214T>A)
c.3822A>T (p.Glu1274Asp)
c.2946A>T (p.Glu982Asp)
c.2295A>T (p.Glu765Asp)
c.1899A>T (p.Glu633Asp)
c.1641A>T (p.Glu547Asp)
10g.75028809A>CCA377294896DUSP29,KAT6Bc.3985A>C (p.Thr1329Pro)
c.3436A>C (p.Thr1146Pro)
c.3109A>C (p.Thr1037Pro)
c.2920A>C (p.Thr974Pro)
n.577-2215T>G
c.*3622-2215T>G (n.*3622-2215T>G)
c.3823A>C (p.Thr1275Pro)
c.2947A>C (p.Thr983Pro)
c.2296A>C (p.Thr766Pro)
c.1900A>C (p.Thr634Pro)
c.1642A>C (p.Thr548Pro)
10g.75028809A>GCA377294898DUSP29,KAT6Bc.3985A>G (p.Thr1329Ala)
c.3436A>G (p.Thr1146Ala)
c.3109A>G (p.Thr1037Ala)
c.2920A>G (p.Thr974Ala)
n.577-2215T>C
c.*3622-2215T>C (n.*3622-2215T>C)
c.3823A>G (p.Thr1275Ala)
c.2947A>G (p.Thr983Ala)
c.2296A>G (p.Thr766Ala)
c.1900A>G (p.Thr634Ala)
c.1642A>G (p.Thr548Ala)
10g.75028809A>TCA377294900DUSP29,KAT6Bc.3985A>T (p.Thr1329Ser)
c.3436A>T (p.Thr1146Ser)
c.3109A>T (p.Thr1037Ser)
c.2920A>T (p.Thr974Ser)
n.577-2215T>A
c.*3622-2215T>A (n.*3622-2215T>A)
c.3823A>T (p.Thr1275Ser)
c.2947A>T (p.Thr983Ser)
c.2296A>T (p.Thr766Ser)
c.1900A>T (p.Thr634Ser)
c.1642A>T (p.Thr548Ser)
10g.75028810C>ACA377294903DUSP29,KAT6Bc.3986C>A (p.Thr1329Lys)
c.3437C>A (p.Thr1146Lys)
c.3110C>A (p.Thr1037Lys)
c.2921C>A (p.Thr974Lys)
n.577-2216G>T
c.*3622-2216G>T (n.*3622-2216G>T)
c.3824C>A (p.Thr1275Lys)
c.2948C>A (p.Thr983Lys)
c.2297C>A (p.Thr766Lys)
c.1901C>A (p.Thr634Lys)
c.1643C>A (p.Thr548Lys)
10g.75028810C>GCA377294904DUSP29,KAT6Bc.3986C>G (p.Thr1329Arg)
c.3437C>G (p.Thr1146Arg)
c.3110C>G (p.Thr1037Arg)
c.2921C>G (p.Thr974Arg)
n.577-2216G>C
c.*3622-2216G>C (n.*3622-2216G>C)
c.3824C>G (p.Thr1275Arg)
c.2948C>G (p.Thr983Arg)
c.2297C>G (p.Thr766Arg)
c.1901C>G (p.Thr634Arg)
c.1643C>G (p.Thr548Arg)
10g.75028810C>TCA377294905DUSP29,KAT6Bc.3986C>T (p.Thr1329Ile)
c.3437C>T (p.Thr1146Ile)
c.3110C>T (p.Thr1037Ile)
c.2921C>T (p.Thr974Ile)
n.577-2216G>A
c.*3622-2216G>A (n.*3622-2216G>A)
c.3824C>T (p.Thr1275Ile)
c.2948C>T (p.Thr983Ile)
c.2297C>T (p.Thr766Ile)
c.1901C>T (p.Thr634Ile)
c.1643C>T (p.Thr548Ile)
10g.75028811A=CA1920306465DUSP29,KAT6Bc.3987A= (p.Thr1329=)
c.3438A= (p.Thr1146=)
c.3111A= (p.Thr1037=)
c.2922A= (p.Thr974=)
n.577-2217T=
c.*3622-2217T= (n.*3622-2217T=)
c.3825A= (p.Thr1275=)
c.2949A= (p.Thr983=)
c.2298A= (p.Thr766=)
c.1902A= (p.Thr634=)
c.1644A= (p.Thr548=)
10g.75028811A>CCA470299636DUSP29,KAT6Bc.3987A>C (p.Thr1329=)
c.3438A>C (p.Thr1146=)
c.3111A>C (p.Thr1037=)
c.2922A>C (p.Thr974=)
n.577-2217T>G
c.*3622-2217T>G (n.*3622-2217T>G)
c.3825A>C (p.Thr1275=)
c.2949A>C (p.Thr983=)
c.2298A>C (p.Thr766=)
c.1902A>C (p.Thr634=)
c.1644A>C (p.Thr548=)
10g.75028811A>GCA470299637DUSP29,KAT6Bc.3987A>G (p.Thr1329=)
c.3438A>G (p.Thr1146=)
c.3111A>G (p.Thr1037=)
c.2922A>G (p.Thr974=)
n.577-2217T>C
c.*3622-2217T>C (n.*3622-2217T>C)
c.3825A>G (p.Thr1275=)
c.2949A>G (p.Thr983=)
c.2298A>G (p.Thr766=)
c.1902A>G (p.Thr634=)
c.1644A>G (p.Thr548=)
 dbSNP gnomAD v4
10g.75028811A>TCA470299638DUSP29,KAT6Bc.3987A>T (p.Thr1329=)
c.3438A>T (p.Thr1146=)
c.3111A>T (p.Thr1037=)
c.2922A>T (p.Thr974=)
n.577-2217T>A
c.*3622-2217T>A (n.*3622-2217T>A)
c.3825A>T (p.Thr1275=)
c.2949A>T (p.Thr983=)
c.2298A>T (p.Thr766=)
c.1902A>T (p.Thr634=)
c.1644A>T (p.Thr548=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.75028811_75028812delCA2499220382DUSP29,KAT6Bc.3987_3988del (p.Ala1331ProfsTer10)
c.3438_3439del (p.Ala1148ProfsTer10)
c.3111_3112del (p.Ala1039ProfsTer10)
c.2922_2923del (p.Ala976ProfsTer10)
n.577-2218_577-2217del
c.*3622-2218_*3622-2217del (n.*3622-2218_*3622-2217del)
c.3825_3826del (p.Ala1277ProfsTer10)
c.2949_2950del (p.Ala985ProfsTer10)
c.2298_2299del (p.Ala768ProfsTer10)
c.1902_1903del (p.Ala636ProfsTer10)
c.1644_1645del (p.Ala550ProfsTer10)
 ClinVar dbSNP
10g.75028812T>ACA377294910DUSP29,KAT6Bc.3988T>A (p.Cys1330Ser)
c.3439T>A (p.Cys1147Ser)
c.3112T>A (p.Cys1038Ser)
c.2923T>A (p.Cys975Ser)
n.577-2218A>T
c.*3622-2218A>T (n.*3622-2218A>T)
c.3826T>A (p.Cys1276Ser)
c.2950T>A (p.Cys984Ser)
c.2299T>A (p.Cys767Ser)
c.1903T>A (p.Cys635Ser)
c.1645T>A (p.Cys549Ser)
 ClinVar
10g.75028812T>CCA377294907DUSP29,KAT6Bc.3988T>C (p.Cys1330Arg)
c.3439T>C (p.Cys1147Arg)
c.3112T>C (p.Cys1038Arg)
c.2923T>C (p.Cys975Arg)
n.577-2218A>G
c.*3622-2218A>G (n.*3622-2218A>G)
c.3826T>C (p.Cys1276Arg)
c.2950T>C (p.Cys984Arg)
c.2299T>C (p.Cys767Arg)
c.1903T>C (p.Cys635Arg)
c.1645T>C (p.Cys549Arg)
 gnomAD v4
10g.75028812T>GCA377294908DUSP29,KAT6Bc.3988T>G (p.Cys1330Gly)
c.3439T>G (p.Cys1147Gly)
c.3112T>G (p.Cys1038Gly)
c.2923T>G (p.Cys975Gly)
n.577-2218A>C
c.*3622-2218A>C (n.*3622-2218A>C)
c.3826T>G (p.Cys1276Gly)
c.2950T>G (p.Cys984Gly)
c.2299T>G (p.Cys767Gly)
c.1903T>G (p.Cys635Gly)
c.1645T>G (p.Cys549Gly)
10g.75028813G>ACA377294911DUSP29,KAT6Bc.3989G>A (p.Cys1330Tyr)
c.3440G>A (p.Cys1147Tyr)
c.3113G>A (p.Cys1038Tyr)
c.2924G>A (p.Cys975Tyr)
n.577-2219C>T
c.*3622-2219C>T (n.*3622-2219C>T)
c.3827G>A (p.Cys1276Tyr)
c.2951G>A (p.Cys984Tyr)
c.2300G>A (p.Cys767Tyr)
c.1904G>A (p.Cys635Tyr)
c.1646G>A (p.Cys549Tyr)
10g.75028813G>CCA377294913DUSP29,KAT6Bc.3989G>C (p.Cys1330Ser)
c.3440G>C (p.Cys1147Ser)
c.3113G>C (p.Cys1038Ser)
c.2924G>C (p.Cys975Ser)
n.577-2219C>G
c.*3622-2219C>G (n.*3622-2219C>G)
c.3827G>C (p.Cys1276Ser)
c.2951G>C (p.Cys984Ser)
c.2300G>C (p.Cys767Ser)
c.1904G>C (p.Cys635Ser)
c.1646G>C (p.Cys549Ser)
10g.75028813G>TCA377294914DUSP29,KAT6Bc.3989G>T (p.Cys1330Phe)
c.3440G>T (p.Cys1147Phe)
c.3113G>T (p.Cys1038Phe)
c.2924G>T (p.Cys975Phe)
n.577-2219C>A
c.*3622-2219C>A (n.*3622-2219C>A)
c.3827G>T (p.Cys1276Phe)
c.2951G>T (p.Cys984Phe)
c.2300G>T (p.Cys767Phe)
c.1904G>T (p.Cys635Phe)
c.1646G>T (p.Cys549Phe)
10g.75028814T>ACA377294917DUSP29,KAT6Bc.3990T>A (p.Cys1330Ter)
c.3441T>A (p.Cys1147Ter)
c.3114T>A (p.Cys1038Ter)
c.2925T>A (p.Cys975Ter)
n.577-2220A>T
c.*3622-2220A>T (n.*3622-2220A>T)
c.3828T>A (p.Cys1276Ter)
c.2952T>A (p.Cys984Ter)
c.2301T>A (p.Cys767Ter)
c.1905T>A (p.Cys635Ter)
c.1647T>A (p.Cys549Ter)
10g.75028814T>CCA470299639DUSP29,KAT6Bc.3990T>C (p.Cys1330=)
c.3441T>C (p.Cys1147=)
c.3114T>C (p.Cys1038=)
c.2925T>C (p.Cys975=)
n.577-2220A>G
c.*3622-2220A>G (n.*3622-2220A>G)
c.3828T>C (p.Cys1276=)
c.2952T>C (p.Cys984=)
c.2301T>C (p.Cys767=)
c.1905T>C (p.Cys635=)
c.1647T>C (p.Cys549=)
10g.75028814T>GCA377294918DUSP29,KAT6Bc.3990T>G (p.Cys1330Trp)
c.3441T>G (p.Cys1147Trp)
c.3114T>G (p.Cys1038Trp)
c.2925T>G (p.Cys975Trp)
n.577-2220A>C
c.*3622-2220A>C (n.*3622-2220A>C)
c.3828T>G (p.Cys1276Trp)
c.2952T>G (p.Cys984Trp)
c.2301T>G (p.Cys767Trp)
c.1905T>G (p.Cys635Trp)
c.1647T>G (p.Cys549Trp)
10g.75028815G>ACA377294920DUSP29,KAT6Bc.3991G>A (p.Ala1331Thr)
c.3442G>A (p.Ala1148Thr)
c.3115G>A (p.Ala1039Thr)
c.2926G>A (p.Ala976Thr)
n.577-2221C>T
c.*3622-2221C>T (n.*3622-2221C>T)
c.3829G>A (p.Ala1277Thr)
c.2953G>A (p.Ala985Thr)
c.2302G>A (p.Ala768Thr)
c.1906G>A (p.Ala636Thr)
c.1648G>A (p.Ala550Thr)
 dbSNP gnomAD v2
10g.75028815G>CCA377294922DUSP29,KAT6Bc.3991G>C (p.Ala1331Pro)
c.3442G>C (p.Ala1148Pro)
c.3115G>C (p.Ala1039Pro)
c.2926G>C (p.Ala976Pro)
n.577-2221C>G
c.*3622-2221C>G (n.*3622-2221C>G)
c.3829G>C (p.Ala1277Pro)
c.2953G>C (p.Ala985Pro)
c.2302G>C (p.Ala768Pro)
c.1906G>C (p.Ala636Pro)
c.1648G>C (p.Ala550Pro)
10g.75028815G=CA1920306466DUSP29,KAT6Bc.3991G= (p.Ala1331=)
c.3442G= (p.Ala1148=)
c.3115G= (p.Ala1039=)
c.2926G= (p.Ala976=)
n.577-2221C=
c.*3622-2221C= (n.*3622-2221C=)
c.3829G= (p.Ala1277=)
c.2953G= (p.Ala985=)
c.2302G= (p.Ala768=)
c.1906G= (p.Ala636=)
c.1648G= (p.Ala550=)
10g.75028815G>TCA377294924DUSP29,KAT6Bc.3991G>T (p.Ala1331Ser)
c.3442G>T (p.Ala1148Ser)
c.3115G>T (p.Ala1039Ser)
c.2926G>T (p.Ala976Ser)
n.577-2221C>A
c.*3622-2221C>A (n.*3622-2221C>A)
c.3829G>T (p.Ala1277Ser)
c.2953G>T (p.Ala985Ser)
c.2302G>T (p.Ala768Ser)
c.1906G>T (p.Ala636Ser)
c.1648G>T (p.Ala550Ser)
10g.75028816C>ACA377294926DUSP29,KAT6Bc.3992C>A (p.Ala1331Asp)
c.3443C>A (p.Ala1148Asp)
c.3116C>A (p.Ala1039Asp)
c.2927C>A (p.Ala976Asp)
n.577-2222G>T
c.*3622-2222G>T (n.*3622-2222G>T)
c.3830C>A (p.Ala1277Asp)
c.2954C>A (p.Ala985Asp)
c.2303C>A (p.Ala768Asp)
c.1907C>A (p.Ala636Asp)
c.1649C>A (p.Ala550Asp)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.75028816C=CA1920306467DUSP29,KAT6Bc.3992C= (p.Ala1331=)
c.3443C= (p.Ala1148=)
c.3116C= (p.Ala1039=)
c.2927C= (p.Ala976=)
n.577-2222G=
c.*3622-2222G= (n.*3622-2222G=)
c.3830C= (p.Ala1277=)
c.2954C= (p.Ala985=)
c.2303C= (p.Ala768=)
c.1907C= (p.Ala636=)
c.1649C= (p.Ala550=)
10g.75028816C>GCA5564936DUSP29,KAT6Bc.3992C>G (p.Ala1331Gly)
c.3443C>G (p.Ala1148Gly)
c.3116C>G (p.Ala1039Gly)
c.2927C>G (p.Ala976Gly)
n.577-2222G>C
c.*3622-2222G>C (n.*3622-2222G>C)
c.3830C>G (p.Ala1277Gly)
c.2954C>G (p.Ala985Gly)
c.2303C>G (p.Ala768Gly)
c.1907C>G (p.Ala636Gly)
c.1649C>G (p.Ala550Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.75028816C>TCA377294929DUSP29,KAT6Bc.3992C>T (p.Ala1331Val)
c.3443C>T (p.Ala1148Val)
c.3116C>T (p.Ala1039Val)
c.2927C>T (p.Ala976Val)
n.577-2222G>A
c.*3622-2222G>A (n.*3622-2222G>A)
c.3830C>T (p.Ala1277Val)
c.2954C>T (p.Ala985Val)
c.2303C>T (p.Ala768Val)
c.1907C>T (p.Ala636Val)
c.1649C>T (p.Ala550Val)
 gnomAD v4
10g.75028819delCA2499220383DUSP29,KAT6Bc.3995del (p.Pro1332LeufsTer2)
c.3446del (p.Pro1149LeufsTer2)
c.3119del (p.Pro1040LeufsTer2)
c.2930del (p.Pro977LeufsTer2)
n.577-2222del
c.*3622-2222del (n.*3622-2222del)
c.3833del (p.Pro1278LeufsTer2)
c.2957del (p.Pro986LeufsTer2)
c.2306del (p.Pro769LeufsTer2)
c.1910del (p.Pro637LeufsTer2)
c.1652del (p.Pro551LeufsTer2)
 ClinVar dbSNP
10g.75028817C>ACA470299642DUSP29,KAT6Bc.3993C>A (p.Ala1331=)
c.3444C>A (p.Ala1148=)
c.3117C>A (p.Ala1039=)
c.2928C>A (p.Ala976=)
n.577-2223G>T
c.*3622-2223G>T (n.*3622-2223G>T)
c.3831C>A (p.Ala1277=)
c.2955C>A (p.Ala985=)
c.2304C>A (p.Ala768=)
c.1908C>A (p.Ala636=)
c.1650C>A (p.Ala550=)
10g.75028817C>GCA470299640DUSP29,KAT6Bc.3993C>G (p.Ala1331=)
c.3444C>G (p.Ala1148=)
c.3117C>G (p.Ala1039=)
c.2928C>G (p.Ala976=)
n.577-2223G>C
c.*3622-2223G>C (n.*3622-2223G>C)
c.3831C>G (p.Ala1277=)
c.2955C>G (p.Ala985=)
c.2304C>G (p.Ala768=)
c.1908C>G (p.Ala636=)
c.1650C>G (p.Ala550=)
10g.75028817C>TCA470299641DUSP29,KAT6Bc.3993C>T (p.Ala1331=)
c.3444C>T (p.Ala1148=)
c.3117C>T (p.Ala1039=)
c.2928C>T (p.Ala976=)
n.577-2223G>A
c.*3622-2223G>A (n.*3622-2223G>A)
c.3831C>T (p.Ala1277=)
c.2955C>T (p.Ala985=)
c.2304C>T (p.Ala768=)
c.1908C>T (p.Ala636=)
c.1650C>T (p.Ala550=)
10g.75028818C>ACA377294932DUSP29,KAT6Bc.3994C>A (p.Pro1332Thr)
c.3445C>A (p.Pro1149Thr)
c.3118C>A (p.Pro1040Thr)
c.2929C>A (p.Pro977Thr)
n.577-2224G>T
c.*3622-2224G>T (n.*3622-2224G>T)
c.3832C>A (p.Pro1278Thr)
c.2956C>A (p.Pro986Thr)
c.2305C>A (p.Pro769Thr)
c.1909C>A (p.Pro637Thr)
c.1651C>A (p.Pro551Thr)
10g.75028818C=CA1920306468DUSP29,KAT6Bc.3994C= (p.Pro1332=)
c.3445C= (p.Pro1149=)
c.3118C= (p.Pro1040=)
c.2929C= (p.Pro977=)
n.577-2224G=
c.*3622-2224G= (n.*3622-2224G=)
c.3832C= (p.Pro1278=)
c.2956C= (p.Pro986=)
c.2305C= (p.Pro769=)
c.1909C= (p.Pro637=)
c.1651C= (p.Pro551=)
10g.75028818C>GCA377294934DUSP29,KAT6Bc.3994C>G (p.Pro1332Ala)
c.3445C>G (p.Pro1149Ala)
c.3118C>G (p.Pro1040Ala)
c.2929C>G (p.Pro977Ala)
n.577-2224G>C
c.*3622-2224G>C (n.*3622-2224G>C)
c.3832C>G (p.Pro1278Ala)
c.2956C>G (p.Pro986Ala)
c.2305C>G (p.Pro769Ala)
c.1909C>G (p.Pro637Ala)
c.1651C>G (p.Pro551Ala)
10g.75028818C>TCA5564937DUSP29,KAT6Bc.3994C>T (p.Pro1332Ser)
c.3445C>T (p.Pro1149Ser)
c.3118C>T (p.Pro1040Ser)
c.2929C>T (p.Pro977Ser)
n.577-2224G>A
c.*3622-2224G>A (n.*3622-2224G>A)
c.3832C>T (p.Pro1278Ser)
c.2956C>T (p.Pro986Ser)
c.2305C>T (p.Pro769Ser)
c.1909C>T (p.Pro637Ser)
c.1651C>T (p.Pro551Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.75028819C>ACA377294940DUSP29,KAT6Bc.3995C>A (p.Pro1332His)
c.3446C>A (p.Pro1149His)
c.3119C>A (p.Pro1040His)
c.2930C>A (p.Pro977His)
n.577-2225G>T
c.*3622-2225G>T (n.*3622-2225G>T)
c.3833C>A (p.Pro1278His)
c.2957C>A (p.Pro986His)
c.2306C>A (p.Pro769His)
c.1910C>A (p.Pro637His)
c.1652C>A (p.Pro551His)
10g.75028819C>GCA377294936DUSP29,KAT6Bc.3995C>G (p.Pro1332Arg)
c.3446C>G (p.Pro1149Arg)
c.3119C>G (p.Pro1040Arg)
c.2930C>G (p.Pro977Arg)
n.577-2225G>C
c.*3622-2225G>C (n.*3622-2225G>C)
c.3833C>G (p.Pro1278Arg)
c.2957C>G (p.Pro986Arg)
c.2306C>G (p.Pro769Arg)
c.1910C>G (p.Pro637Arg)
c.1652C>G (p.Pro551Arg)
10g.75028819C>TCA377294938DUSP29,KAT6Bc.3995C>T (p.Pro1332Leu)
c.3446C>T (p.Pro1149Leu)
c.3119C>T (p.Pro1040Leu)
c.2930C>T (p.Pro977Leu)
n.577-2225G>A
c.*3622-2225G>A (n.*3622-2225G>A)
c.3833C>T (p.Pro1278Leu)
c.2957C>T (p.Pro986Leu)
c.2306C>T (p.Pro769Leu)
c.1910C>T (p.Pro637Leu)
c.1652C>T (p.Pro551Leu)
10g.75028820T>ACA470299643DUSP29,KAT6Bc.3996T>A (p.Pro1332=)
c.3447T>A (p.Pro1149=)
c.3120T>A (p.Pro1040=)
c.2931T>A (p.Pro977=)
n.577-2226A>T
c.*3622-2226A>T (n.*3622-2226A>T)
c.3834T>A (p.Pro1278=)
c.2958T>A (p.Pro986=)
c.2307T>A (p.Pro769=)
c.1911T>A (p.Pro637=)
c.1653T>A (p.Pro551=)
10g.75028820T>CCA470299644DUSP29,KAT6Bc.3996T>C (p.Pro1332=)
c.3447T>C (p.Pro1149=)
c.3120T>C (p.Pro1040=)
c.2931T>C (p.Pro977=)
n.577-2226A>G
c.*3622-2226A>G (n.*3622-2226A>G)
c.3834T>C (p.Pro1278=)
c.2958T>C (p.Pro986=)
c.2307T>C (p.Pro769=)
c.1911T>C (p.Pro637=)
c.1653T>C (p.Pro551=)
 COSMIC
10g.75028820T>GCA470299645DUSP29,KAT6Bc.3996T>G (p.Pro1332=)
c.3447T>G (p.Pro1149=)
c.3120T>G (p.Pro1040=)
c.2931T>G (p.Pro977=)
n.577-2226A>C
c.*3622-2226A>C (n.*3622-2226A>C)
c.3834T>G (p.Pro1278=)
c.2958T>G (p.Pro986=)
c.2307T>G (p.Pro769=)
c.1911T>G (p.Pro637=)
c.1653T>G (p.Pro551=)
10g.75028821G>ACA209709342DUSP29,KAT6Bc.3997G>A (p.Val1333Ile)
c.3448G>A (p.Val1150Ile)
c.3121G>A (p.Val1041Ile)
c.2932G>A (p.Val978Ile)
n.577-2227C>T
c.*3622-2227C>T (n.*3622-2227C>T)
c.3835G>A (p.Val1279Ile)
c.2959G>A (p.Val987Ile)
c.2308G>A (p.Val770Ile)
c.1912G>A (p.Val638Ile)
c.1654G>A (p.Val552Ile)
 ClinVar dbSNP gnomAD v4
10g.75028821G>CCA377294943DUSP29,KAT6Bc.3997G>C (p.Val1333Leu)
c.3448G>C (p.Val1150Leu)
c.3121G>C (p.Val1041Leu)
c.2932G>C (p.Val978Leu)
n.577-2227C>G
c.*3622-2227C>G (n.*3622-2227C>G)
c.3835G>C (p.Val1279Leu)
c.2959G>C (p.Val987Leu)
c.2308G>C (p.Val770Leu)
c.1912G>C (p.Val638Leu)
c.1654G>C (p.Val552Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.75028821G=CA1920306469DUSP29,KAT6Bc.3997G= (p.Val1333=)
c.3448G= (p.Val1150=)
c.3121G= (p.Val1041=)
c.2932G= (p.Val978=)
n.577-2227C=
c.*3622-2227C= (n.*3622-2227C=)
c.3835G= (p.Val1279=)
c.2959G= (p.Val987=)
c.2308G= (p.Val770=)
c.1912G= (p.Val638=)
c.1654G= (p.Val552=)
10g.75028821G>TCA377294945DUSP29,KAT6Bc.3997G>T (p.Val1333Leu)
c.3448G>T (p.Val1150Leu)
c.3121G>T (p.Val1041Leu)
c.2932G>T (p.Val978Leu)
n.577-2227C>A
c.*3622-2227C>A (n.*3622-2227C>A)
c.3835G>T (p.Val1279Leu)
c.2959G>T (p.Val987Leu)
c.2308G>T (p.Val770Leu)
c.1912G>T (p.Val638Leu)
c.1654G>T (p.Val552Leu)

Number of alleles fetched