Chr Mutation (hg38) CAid Gene Transcript Linkouts
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

Number of alleles fetched