Chr Mutation (hg38) CAid Gene Transcript Linkouts
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)
10g.75028822T>ACA377294947DUSP29,KAT6Bc.3998T>A (p.Val1333Glu)
c.3449T>A (p.Val1150Glu)
c.3122T>A (p.Val1041Glu)
c.2933T>A (p.Val978Glu)
n.577-2228A>T
c.*3622-2228A>T (n.*3622-2228A>T)
c.3836T>A (p.Val1279Glu)
c.2960T>A (p.Val987Glu)
c.2309T>A (p.Val770Glu)
c.1913T>A (p.Val638Glu)
c.1655T>A (p.Val552Glu)
10g.75028822T>CCA377294949DUSP29,KAT6Bc.3998T>C (p.Val1333Ala)
c.3449T>C (p.Val1150Ala)
c.3122T>C (p.Val1041Ala)
c.2933T>C (p.Val978Ala)
n.577-2228A>G
c.*3622-2228A>G (n.*3622-2228A>G)
c.3836T>C (p.Val1279Ala)
c.2960T>C (p.Val987Ala)
c.2309T>C (p.Val770Ala)
c.1913T>C (p.Val638Ala)
c.1655T>C (p.Val552Ala)
10g.75028822T>GCA377294950DUSP29,KAT6Bc.3998T>G (p.Val1333Gly)
c.3449T>G (p.Val1150Gly)
c.3122T>G (p.Val1041Gly)
c.2933T>G (p.Val978Gly)
n.577-2228A>C
c.*3622-2228A>C (n.*3622-2228A>C)
c.3836T>G (p.Val1279Gly)
c.2960T>G (p.Val987Gly)
c.2309T>G (p.Val770Gly)
c.1913T>G (p.Val638Gly)
c.1655T>G (p.Val552Gly)
10g.75028822dupCA2573332437DUSP29,KAT6Bc.3998dup (p.Ser1334LysfsTer8)
c.3449dup (p.Ser1151LysfsTer8)
c.3122dup (p.Ser1042LysfsTer8)
c.2933dup (p.Ser979LysfsTer8)
n.577-2228dup
c.*3622-2228dup (n.*3622-2228dup)
c.3836dup (p.Ser1280LysfsTer8)
c.2960dup (p.Ser988LysfsTer8)
c.2309dup (p.Ser771LysfsTer8)
c.1913dup (p.Ser639LysfsTer8)
c.1655dup (p.Ser553LysfsTer8)
ClinVar
10g.75028823A>CCA470299646DUSP29,KAT6Bc.3999A>C (p.Val1333=)
c.3450A>C (p.Val1150=)
c.3123A>C (p.Val1041=)
c.2934A>C (p.Val978=)
n.577-2229T>G
c.*3622-2229T>G (n.*3622-2229T>G)
c.3837A>C (p.Val1279=)
c.2961A>C (p.Val987=)
c.2310A>C (p.Val770=)
c.1914A>C (p.Val638=)
c.1656A>C (p.Val552=)
10g.75028823A>GCA470299647DUSP29,KAT6Bc.3999A>G (p.Val1333=)
c.3450A>G (p.Val1150=)
c.3123A>G (p.Val1041=)
c.2934A>G (p.Val978=)
n.577-2229T>C
c.*3622-2229T>C (n.*3622-2229T>C)
c.3837A>G (p.Val1279=)
c.2961A>G (p.Val987=)
c.2310A>G (p.Val770=)
c.1914A>G (p.Val638=)
c.1656A>G (p.Val552=)
10g.75028823A>TCA470299648DUSP29,KAT6Bc.3999A>T (p.Val1333=)
c.3450A>T (p.Val1150=)
c.3123A>T (p.Val1041=)
c.2934A>T (p.Val978=)
n.577-2229T>A
c.*3622-2229T>A (n.*3622-2229T>A)
c.3837A>T (p.Val1279=)
c.2961A>T (p.Val987=)
c.2310A>T (p.Val770=)
c.1914A>T (p.Val638=)
c.1656A>T (p.Val552=)
10g.75028824A=CA1920306470DUSP29,KAT6Bc.4000A= (p.Ser1334=)
c.3451A= (p.Ser1151=)
c.3124A= (p.Ser1042=)
c.2935A= (p.Ser979=)
n.577-2230T=
c.*3622-2230T= (n.*3622-2230T=)
c.3838A= (p.Ser1280=)
c.2962A= (p.Ser988=)
c.2311A= (p.Ser771=)
c.1915A= (p.Ser639=)
c.1657A= (p.Ser553=)
10g.75028824A>CCA5564938DUSP29,KAT6Bc.4000A>C (p.Ser1334Arg)
c.3451A>C (p.Ser1151Arg)
c.3124A>C (p.Ser1042Arg)
c.2935A>C (p.Ser979Arg)
n.577-2230T>G
c.*3622-2230T>G (n.*3622-2230T>G)
c.3838A>C (p.Ser1280Arg)
c.2962A>C (p.Ser988Arg)
c.2311A>C (p.Ser771Arg)
c.1915A>C (p.Ser639Arg)
c.1657A>C (p.Ser553Arg)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.75028824A>GCA377294952DUSP29,KAT6Bc.4000A>G (p.Ser1334Gly)
c.3451A>G (p.Ser1151Gly)
c.3124A>G (p.Ser1042Gly)
c.2935A>G (p.Ser979Gly)
n.577-2230T>C
c.*3622-2230T>C (n.*3622-2230T>C)
c.3838A>G (p.Ser1280Gly)
c.2962A>G (p.Ser988Gly)
c.2311A>G (p.Ser771Gly)
c.1915A>G (p.Ser639Gly)
c.1657A>G (p.Ser553Gly)
10g.75028824A>TCA377294954DUSP29,KAT6Bc.4000A>T (p.Ser1334Cys)
c.3451A>T (p.Ser1151Cys)
c.3124A>T (p.Ser1042Cys)
c.2935A>T (p.Ser979Cys)
n.577-2230T>A
c.*3622-2230T>A (n.*3622-2230T>A)
c.3838A>T (p.Ser1280Cys)
c.2962A>T (p.Ser988Cys)
c.2311A>T (p.Ser771Cys)
c.1915A>T (p.Ser639Cys)
c.1657A>T (p.Ser553Cys)
10g.75028825G>ACA377294955DUSP29,KAT6Bc.4001G>A (p.Ser1334Asn)
c.3452G>A (p.Ser1151Asn)
c.3125G>A (p.Ser1042Asn)
c.2936G>A (p.Ser979Asn)
n.577-2231C>T
c.*3622-2231C>T (n.*3622-2231C>T)
c.3839G>A (p.Ser1280Asn)
c.2963G>A (p.Ser988Asn)
c.2312G>A (p.Ser771Asn)
c.1916G>A (p.Ser639Asn)
c.1658G>A (p.Ser553Asn)
dbSNP gnomAD v2 gnomAD v4
10g.75028825G>CCA377294957DUSP29,KAT6Bc.4001G>C (p.Ser1334Thr)
c.3452G>C (p.Ser1151Thr)
c.3125G>C (p.Ser1042Thr)
c.2936G>C (p.Ser979Thr)
n.577-2231C>G
c.*3622-2231C>G (n.*3622-2231C>G)
c.3839G>C (p.Ser1280Thr)
c.2963G>C (p.Ser988Thr)
c.2312G>C (p.Ser771Thr)
c.1916G>C (p.Ser639Thr)
c.1658G>C (p.Ser553Thr)
10g.75028825G=CA1920306471DUSP29,KAT6Bc.4001G= (p.Ser1334=)
c.3452G= (p.Ser1151=)
c.3125G= (p.Ser1042=)
c.2936G= (p.Ser979=)
n.577-2231C=
c.*3622-2231C= (n.*3622-2231C=)
c.3839G= (p.Ser1280=)
c.2963G= (p.Ser988=)
c.2312G= (p.Ser771=)
c.1916G= (p.Ser639=)
c.1658G= (p.Ser553=)
10g.75028825G>TCA377294959DUSP29,KAT6Bc.4001G>T (p.Ser1334Ile)
c.3452G>T (p.Ser1151Ile)
c.3125G>T (p.Ser1042Ile)
c.2936G>T (p.Ser979Ile)
n.577-2231C>A
c.*3622-2231C>A (n.*3622-2231C>A)
c.3839G>T (p.Ser1280Ile)
c.2963G>T (p.Ser988Ile)
c.2312G>T (p.Ser771Ile)
c.1916G>T (p.Ser639Ile)
c.1658G>T (p.Ser553Ile)
10g.75028826T>ACA377294961DUSP29,KAT6Bc.4002T>A (p.Ser1334Arg)
c.3453T>A (p.Ser1151Arg)
c.3126T>A (p.Ser1042Arg)
c.2937T>A (p.Ser979Arg)
n.577-2232A>T
c.*3622-2232A>T (n.*3622-2232A>T)
c.3840T>A (p.Ser1280Arg)
c.2964T>A (p.Ser988Arg)
c.2313T>A (p.Ser771Arg)
c.1917T>A (p.Ser639Arg)
c.1659T>A (p.Ser553Arg)
10g.75028826T>CCA470299652DUSP29,KAT6Bc.4002T>C (p.Ser1334=)
c.3453T>C (p.Ser1151=)
c.3126T>C (p.Ser1042=)
c.2937T>C (p.Ser979=)
n.577-2232A>G
c.*3622-2232A>G (n.*3622-2232A>G)
c.3840T>C (p.Ser1280=)
c.2964T>C (p.Ser988=)
c.2313T>C (p.Ser771=)
c.1917T>C (p.Ser639=)
c.1659T>C (p.Ser553=)
10g.75028826T>GCA377294963DUSP29,KAT6Bc.4002T>G (p.Ser1334Arg)
c.3453T>G (p.Ser1151Arg)
c.3126T>G (p.Ser1042Arg)
c.2937T>G (p.Ser979Arg)
n.577-2232A>C
c.*3622-2232A>C (n.*3622-2232A>C)
c.3840T>G (p.Ser1280Arg)
c.2964T>G (p.Ser988Arg)
c.2313T>G (p.Ser771Arg)
c.1917T>G (p.Ser639Arg)
c.1659T>G (p.Ser553Arg)
10g.75028827C>ACA377294965DUSP29,KAT6Bc.4003C>A (p.Pro1335Thr)
c.3454C>A (p.Pro1152Thr)
c.3127C>A (p.Pro1043Thr)
c.2938C>A (p.Pro980Thr)
n.577-2233G>T
c.*3622-2233G>T (n.*3622-2233G>T)
c.3841C>A (p.Pro1281Thr)
c.2965C>A (p.Pro989Thr)
c.2314C>A (p.Pro772Thr)
c.1918C>A (p.Pro640Thr)
c.1660C>A (p.Pro554Thr)
10g.75028827C>GCA377294967DUSP29,KAT6Bc.4003C>G (p.Pro1335Ala)
c.3454C>G (p.Pro1152Ala)
c.3127C>G (p.Pro1043Ala)
c.2938C>G (p.Pro980Ala)
n.577-2233G>C
c.*3622-2233G>C (n.*3622-2233G>C)
c.3841C>G (p.Pro1281Ala)
c.2965C>G (p.Pro989Ala)
c.2314C>G (p.Pro772Ala)
c.1918C>G (p.Pro640Ala)
c.1660C>G (p.Pro554Ala)
10g.75028827C>TCA377294968DUSP29,KAT6Bc.4003C>T (p.Pro1335Ser)
c.3454C>T (p.Pro1152Ser)
c.3127C>T (p.Pro1043Ser)
c.2938C>T (p.Pro980Ser)
n.577-2233G>A
c.*3622-2233G>A (n.*3622-2233G>A)
c.3841C>T (p.Pro1281Ser)
c.2965C>T (p.Pro989Ser)
c.2314C>T (p.Pro772Ser)
c.1918C>T (p.Pro640Ser)
c.1660C>T (p.Pro554Ser)
10g.75028828C>ACA377294970DUSP29,KAT6Bc.4004C>A (p.Pro1335Gln)
c.3455C>A (p.Pro1152Gln)
c.3128C>A (p.Pro1043Gln)
c.2939C>A (p.Pro980Gln)
n.577-2234G>T
c.*3622-2234G>T (n.*3622-2234G>T)
c.3842C>A (p.Pro1281Gln)
c.2966C>A (p.Pro989Gln)
c.2315C>A (p.Pro772Gln)
c.1919C>A (p.Pro640Gln)
c.1661C>A (p.Pro554Gln)
10g.75028828C=CA1920306472DUSP29,KAT6Bc.4004C= (p.Pro1335=)
c.3455C= (p.Pro1152=)
c.3128C= (p.Pro1043=)
c.2939C= (p.Pro980=)
n.577-2234G=
c.*3622-2234G= (n.*3622-2234G=)
c.3842C= (p.Pro1281=)
c.2966C= (p.Pro989=)
c.2315C= (p.Pro772=)
c.1919C= (p.Pro640=)
c.1661C= (p.Pro554=)
10g.75028828C>GCA377294972DUSP29,KAT6Bc.4004C>G (p.Pro1335Arg)
c.3455C>G (p.Pro1152Arg)
c.3128C>G (p.Pro1043Arg)
c.2939C>G (p.Pro980Arg)
n.577-2234G>C
c.*3622-2234G>C (n.*3622-2234G>C)
c.3842C>G (p.Pro1281Arg)
c.2966C>G (p.Pro989Arg)
c.2315C>G (p.Pro772Arg)
c.1919C>G (p.Pro640Arg)
c.1661C>G (p.Pro554Arg)
10g.75028828C>TCA5564939DUSP29,KAT6Bc.4004C>T (p.Pro1335Leu)
c.3455C>T (p.Pro1152Leu)
c.3128C>T (p.Pro1043Leu)
c.2939C>T (p.Pro980Leu)
n.577-2234G>A
c.*3622-2234G>A (n.*3622-2234G>A)
c.3842C>T (p.Pro1281Leu)
c.2966C>T (p.Pro989Leu)
c.2315C>T (p.Pro772Leu)
c.1919C>T (p.Pro640Leu)
c.1661C>T (p.Pro554Leu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
10g.75028829A>CCA470299655DUSP29,KAT6Bc.4005A>C (p.Pro1335=)
c.3456A>C (p.Pro1152=)
c.3129A>C (p.Pro1043=)
c.2940A>C (p.Pro980=)
n.577-2235T>G
c.*3622-2235T>G (n.*3622-2235T>G)
c.3843A>C (p.Pro1281=)
c.2967A>C (p.Pro989=)
c.2316A>C (p.Pro772=)
c.1920A>C (p.Pro640=)
c.1662A>C (p.Pro554=)
10g.75028829A>GCA470299656DUSP29,KAT6Bc.4005A>G (p.Pro1335=)
c.3456A>G (p.Pro1152=)
c.3129A>G (p.Pro1043=)
c.2940A>G (p.Pro980=)
n.577-2235T>C
c.*3622-2235T>C (n.*3622-2235T>C)
c.3843A>G (p.Pro1281=)
c.2967A>G (p.Pro989=)
c.2316A>G (p.Pro772=)
c.1920A>G (p.Pro640=)
c.1662A>G (p.Pro554=)
10g.75028829A>TCA470299657DUSP29,KAT6Bc.4005A>T (p.Pro1335=)
c.3456A>T (p.Pro1152=)
c.3129A>T (p.Pro1043=)
c.2940A>T (p.Pro980=)
n.577-2235T>A
c.*3622-2235T>A (n.*3622-2235T>A)
c.3843A>T (p.Pro1281=)
c.2967A>T (p.Pro989=)
c.2316A>T (p.Pro772=)
c.1920A>T (p.Pro640=)
c.1662A>T (p.Pro554=)
10g.75028830A>CCA377294975DUSP29,KAT6Bc.4006A>C (p.Asn1336His)
c.3457A>C (p.Asn1153His)
c.3130A>C (p.Asn1044His)
c.2941A>C (p.Asn981His)
n.577-2236T>G
c.*3622-2236T>G (n.*3622-2236T>G)
c.3844A>C (p.Asn1282His)
c.2968A>C (p.Asn990His)
c.2317A>C (p.Asn773His)
c.1921A>C (p.Asn641His)
c.1663A>C (p.Asn555His)
10g.75028830A>GCA377294977DUSP29,KAT6Bc.4006A>G (p.Asn1336Asp)
c.3457A>G (p.Asn1153Asp)
c.3130A>G (p.Asn1044Asp)
c.2941A>G (p.Asn981Asp)
n.577-2236T>C
c.*3622-2236T>C (n.*3622-2236T>C)
c.3844A>G (p.Asn1282Asp)
c.2968A>G (p.Asn990Asp)
c.2317A>G (p.Asn773Asp)
c.1921A>G (p.Asn641Asp)
c.1663A>G (p.Asn555Asp)
ClinVar dbSNP gnomAD v4
10g.75028830A>TCA377294979DUSP29,KAT6Bc.4006A>T (p.Asn1336Tyr)
c.3457A>T (p.Asn1153Tyr)
c.3130A>T (p.Asn1044Tyr)
c.2941A>T (p.Asn981Tyr)
n.577-2236T>A
c.*3622-2236T>A (n.*3622-2236T>A)
c.3844A>T (p.Asn1282Tyr)
c.2968A>T (p.Asn990Tyr)
c.2317A>T (p.Asn773Tyr)
c.1921A>T (p.Asn641Tyr)
c.1663A>T (p.Asn555Tyr)
gnomAD v4
10g.75028831A>CCA377294981DUSP29,KAT6Bc.4007A>C (p.Asn1336Thr)
c.3458A>C (p.Asn1153Thr)
c.3131A>C (p.Asn1044Thr)
c.2942A>C (p.Asn981Thr)
n.577-2237T>G
c.*3622-2237T>G (n.*3622-2237T>G)
c.3845A>C (p.Asn1282Thr)
c.2969A>C (p.Asn990Thr)
c.2318A>C (p.Asn773Thr)
c.1922A>C (p.Asn641Thr)
c.1664A>C (p.Asn555Thr)
10g.75028831A>GCA377294983DUSP29,KAT6Bc.4007A>G (p.Asn1336Ser)
c.3458A>G (p.Asn1153Ser)
c.3131A>G (p.Asn1044Ser)
c.2942A>G (p.Asn981Ser)
n.577-2237T>C
c.*3622-2237T>C (n.*3622-2237T>C)
c.3845A>G (p.Asn1282Ser)
c.2969A>G (p.Asn990Ser)
c.2318A>G (p.Asn773Ser)
c.1922A>G (p.Asn641Ser)
c.1664A>G (p.Asn555Ser)
10g.75028831A>TCA377294985DUSP29,KAT6Bc.4007A>T (p.Asn1336Ile)
c.3458A>T (p.Asn1153Ile)
c.3131A>T (p.Asn1044Ile)
c.2942A>T (p.Asn981Ile)
n.577-2237T>A
c.*3622-2237T>A (n.*3622-2237T>A)
c.3845A>T (p.Asn1282Ile)
c.2969A>T (p.Asn990Ile)
c.2318A>T (p.Asn773Ile)
c.1922A>T (p.Asn641Ile)
c.1664A>T (p.Asn555Ile)
10g.75028832C>ACA377294987DUSP29,KAT6Bc.4008C>A (p.Asn1336Lys)
c.3459C>A (p.Asn1153Lys)
c.3132C>A (p.Asn1044Lys)
c.2943C>A (p.Asn981Lys)
n.577-2238G>T
c.*3622-2238G>T (n.*3622-2238G>T)
c.3846C>A (p.Asn1282Lys)
c.2970C>A (p.Asn990Lys)
c.2319C>A (p.Asn773Lys)
c.1923C>A (p.Asn641Lys)
c.1665C>A (p.Asn555Lys)
10g.75028832C>GCA377294989DUSP29,KAT6Bc.4008C>G (p.Asn1336Lys)
c.3459C>G (p.Asn1153Lys)
c.3132C>G (p.Asn1044Lys)
c.2943C>G (p.Asn981Lys)
n.577-2238G>C
c.*3622-2238G>C (n.*3622-2238G>C)
c.3846C>G (p.Asn1282Lys)
c.2970C>G (p.Asn990Lys)
c.2319C>G (p.Asn773Lys)
c.1923C>G (p.Asn641Lys)
c.1665C>G (p.Asn555Lys)
10g.75028832C>TCA470299663DUSP29,KAT6Bc.4008C>T (p.Asn1336=)
c.3459C>T (p.Asn1153=)
c.3132C>T (p.Asn1044=)
c.2943C>T (p.Asn981=)
n.577-2238G>A
c.*3622-2238G>A (n.*3622-2238G>A)
c.3846C>T (p.Asn1282=)
c.2970C>T (p.Asn990=)
c.2319C>T (p.Asn773=)
c.1923C>T (p.Asn641=)
c.1665C>T (p.Asn555=)
10g.75028833A=CA1920306473DUSP29,KAT6Bc.4009A= (p.Thr1337=)
c.3460A= (p.Thr1154=)
c.3133A= (p.Thr1045=)
c.2944A= (p.Thr982=)
n.577-2239T=
c.*3622-2239T= (n.*3622-2239T=)
c.3847A= (p.Thr1283=)
c.2971A= (p.Thr991=)
c.2320A= (p.Thr774=)
c.1924A= (p.Thr642=)
c.1666A= (p.Thr556=)
10g.75028833A>CCA377294991DUSP29,KAT6Bc.4009A>C (p.Thr1337Pro)
c.3460A>C (p.Thr1154Pro)
c.3133A>C (p.Thr1045Pro)
c.2944A>C (p.Thr982Pro)
n.577-2239T>G
c.*3622-2239T>G (n.*3622-2239T>G)
c.3847A>C (p.Thr1283Pro)
c.2971A>C (p.Thr991Pro)
c.2320A>C (p.Thr774Pro)
c.1924A>C (p.Thr642Pro)
c.1666A>C (p.Thr556Pro)
10g.75028833A>GCA377294992DUSP29,KAT6Bc.4009A>G (p.Thr1337Ala)
c.3460A>G (p.Thr1154Ala)
c.3133A>G (p.Thr1045Ala)
c.2944A>G (p.Thr982Ala)
n.577-2239T>C
c.*3622-2239T>C (n.*3622-2239T>C)
c.3847A>G (p.Thr1283Ala)
c.2971A>G (p.Thr991Ala)
c.2320A>G (p.Thr774Ala)
c.1924A>G (p.Thr642Ala)
c.1666A>G (p.Thr556Ala)
dbSNP
10g.75028833A>TCA377294995DUSP29,KAT6Bc.4009A>T (p.Thr1337Ser)
c.3460A>T (p.Thr1154Ser)
c.3133A>T (p.Thr1045Ser)
c.2944A>T (p.Thr982Ser)
n.577-2239T>A
c.*3622-2239T>A (n.*3622-2239T>A)
c.3847A>T (p.Thr1283Ser)
c.2971A>T (p.Thr991Ser)
c.2320A>T (p.Thr774Ser)
c.1924A>T (p.Thr642Ser)
c.1666A>T (p.Thr556Ser)
10g.75028834C>ACA377294997DUSP29,KAT6Bc.4010C>A (p.Thr1337Lys)
c.3461C>A (p.Thr1154Lys)
c.3134C>A (p.Thr1045Lys)
c.2945C>A (p.Thr982Lys)
n.577-2240G>T
c.*3622-2240G>T (n.*3622-2240G>T)
c.3848C>A (p.Thr1283Lys)
c.2972C>A (p.Thr991Lys)
c.2321C>A (p.Thr774Lys)
c.1925C>A (p.Thr642Lys)
c.1667C>A (p.Thr556Lys)
10g.75028834C>GCA377294999DUSP29,KAT6Bc.4010C>G (p.Thr1337Arg)
c.3461C>G (p.Thr1154Arg)
c.3134C>G (p.Thr1045Arg)
c.2945C>G (p.Thr982Arg)
n.577-2240G>C
c.*3622-2240G>C (n.*3622-2240G>C)
c.3848C>G (p.Thr1283Arg)
c.2972C>G (p.Thr991Arg)
c.2321C>G (p.Thr774Arg)
c.1925C>G (p.Thr642Arg)
c.1667C>G (p.Thr556Arg)
10g.75028834C>TCA377295001DUSP29,KAT6Bc.4010C>T (p.Thr1337Ile)
c.3461C>T (p.Thr1154Ile)
c.3134C>T (p.Thr1045Ile)
c.2945C>T (p.Thr982Ile)
n.577-2240G>A
c.*3622-2240G>A (n.*3622-2240G>A)
c.3848C>T (p.Thr1283Ile)
c.2972C>T (p.Thr991Ile)
c.2321C>T (p.Thr774Ile)
c.1925C>T (p.Thr642Ile)
c.1667C>T (p.Thr556Ile)
10g.75028835A=CA1920306474DUSP29,KAT6Bc.4011A= (p.Thr1337=)
c.3462A= (p.Thr1154=)
c.3135A= (p.Thr1045=)
c.2946A= (p.Thr982=)
n.577-2241T=
c.*3622-2241T= (n.*3622-2241T=)
c.3849A= (p.Thr1283=)
c.2973A= (p.Thr991=)
c.2322A= (p.Thr774=)
c.1926A= (p.Thr642=)
c.1668A= (p.Thr556=)
10g.75028835A>CCA470299664DUSP29,KAT6Bc.4011A>C (p.Thr1337=)
c.3462A>C (p.Thr1154=)
c.3135A>C (p.Thr1045=)
c.2946A>C (p.Thr982=)
n.577-2241T>G
c.*3622-2241T>G (n.*3622-2241T>G)
c.3849A>C (p.Thr1283=)
c.2973A>C (p.Thr991=)
c.2322A>C (p.Thr774=)
c.1926A>C (p.Thr642=)
c.1668A>C (p.Thr556=)
10g.75028835A>GCA5564940DUSP29,KAT6Bc.4011A>G (p.Thr1337=)
c.3462A>G (p.Thr1154=)
c.3135A>G (p.Thr1045=)
c.2946A>G (p.Thr982=)
n.577-2241T>C
c.*3622-2241T>C (n.*3622-2241T>C)
c.3849A>G (p.Thr1283=)
c.2973A>G (p.Thr991=)
c.2322A>G (p.Thr774=)
c.1926A>G (p.Thr642=)
c.1668A>G (p.Thr556=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.75028835A>TCA470299665DUSP29,KAT6Bc.4011A>T (p.Thr1337=)
c.3462A>T (p.Thr1154=)
c.3135A>T (p.Thr1045=)
c.2946A>T (p.Thr982=)
n.577-2241T>A
c.*3622-2241T>A (n.*3622-2241T>A)
c.3849A>T (p.Thr1283=)
c.2973A>T (p.Thr991=)
c.2322A>T (p.Thr774=)
c.1926A>T (p.Thr642=)
c.1668A>T (p.Thr556=)
10g.75028835_75028836insCCCAACCA2788571370DUSP29,KAT6Bc.4011_4012insCCCAAC (p.Thr1337_Ser1338insProAsn)
c.3462_3463insCCCAAC (p.Thr1154_Ser1155insProAsn)
c.3135_3136insCCCAAC (p.Thr1045_Ser1046insProAsn)
c.2946_2947insCCCAAC (p.Thr982_Ser983insProAsn)
n.577-2242_577-2241insGTTGGG
c.*3622-2242_*3622-2241insGTTGGG (n.*3622-2242_*3622-2241insGTTGGG)
c.3849_3850insCCCAAC (p.Thr1283_Ser1284insProAsn)
c.2973_2974insCCCAAC (p.Thr991_Ser992insProAsn)
c.2322_2323insCCCAAC (p.Thr774_Ser775insProAsn)
c.1926_1927insCCCAAC (p.Thr642_Ser643insProAsn)
c.1668_1669insCCCAAC (p.Thr556_Ser557insProAsn)
10g.75028836T>ACA377295003DUSP29,KAT6Bc.4012T>A (p.Ser1338Thr)
c.3463T>A (p.Ser1155Thr)
c.3136T>A (p.Ser1046Thr)
c.2947T>A (p.Ser983Thr)
n.577-2242A>T
c.*3622-2242A>T (n.*3622-2242A>T)
c.3850T>A (p.Ser1284Thr)
c.2974T>A (p.Ser992Thr)
c.2323T>A (p.Ser775Thr)
c.1927T>A (p.Ser643Thr)
c.1669T>A (p.Ser557Thr)
gnomAD v3 gnomAD v4
10g.75028836T>CCA377295005DUSP29,KAT6Bc.4012T>C (p.Ser1338Pro)
c.3463T>C (p.Ser1155Pro)
c.3136T>C (p.Ser1046Pro)
c.2947T>C (p.Ser983Pro)
n.577-2242A>G
c.*3622-2242A>G (n.*3622-2242A>G)
c.3850T>C (p.Ser1284Pro)
c.2974T>C (p.Ser992Pro)
c.2323T>C (p.Ser775Pro)
c.1927T>C (p.Ser643Pro)
c.1669T>C (p.Ser557Pro)
dbSNP gnomAD v3 gnomAD v4
10g.75028836T>GCA377295007DUSP29,KAT6Bc.4012T>G (p.Ser1338Ala)
c.3463T>G (p.Ser1155Ala)
c.3136T>G (p.Ser1046Ala)
c.2947T>G (p.Ser983Ala)
n.577-2242A>C
c.*3622-2242A>C (n.*3622-2242A>C)
c.3850T>G (p.Ser1284Ala)
c.2974T>G (p.Ser992Ala)
c.2323T>G (p.Ser775Ala)
c.1927T>G (p.Ser643Ala)
c.1669T>G (p.Ser557Ala)
10g.75028836T=CA1920306475DUSP29,KAT6Bc.4012T= (p.Ser1338=)
c.3463T= (p.Ser1155=)
c.3136T= (p.Ser1046=)
c.2947T= (p.Ser983=)
n.577-2242A=
c.*3622-2242A= (n.*3622-2242A=)
c.3850T= (p.Ser1284=)
c.2974T= (p.Ser992=)
c.2323T= (p.Ser775=)
c.1927T= (p.Ser643=)
c.1669T= (p.Ser557=)
10g.75028837C>ACA377295010DUSP29,KAT6Bc.4013C>A (p.Ser1338Ter)
c.3464C>A (p.Ser1155Ter)
c.3137C>A (p.Ser1046Ter)
c.2948C>A (p.Ser983Ter)
n.577-2243G>T
c.*3622-2243G>T (n.*3622-2243G>T)
c.3851C>A (p.Ser1284Ter)
c.2975C>A (p.Ser992Ter)
c.2324C>A (p.Ser775Ter)
c.1928C>A (p.Ser643Ter)
c.1670C>A (p.Ser557Ter)
10g.75028837C>GCA377295011DUSP29,KAT6Bc.4013C>G (p.Ser1338Ter)
c.3464C>G (p.Ser1155Ter)
c.3137C>G (p.Ser1046Ter)
c.2948C>G (p.Ser983Ter)
n.577-2243G>C
c.*3622-2243G>C (n.*3622-2243G>C)
c.3851C>G (p.Ser1284Ter)
c.2975C>G (p.Ser992Ter)
c.2324C>G (p.Ser775Ter)
c.1928C>G (p.Ser643Ter)
c.1670C>G (p.Ser557Ter)
10g.75028837C>TCA377295013DUSP29,KAT6Bc.4013C>T (p.Ser1338Leu)
c.3464C>T (p.Ser1155Leu)
c.3137C>T (p.Ser1046Leu)
c.2948C>T (p.Ser983Leu)
n.577-2243G>A
c.*3622-2243G>A (n.*3622-2243G>A)
c.3851C>T (p.Ser1284Leu)
c.2975C>T (p.Ser992Leu)
c.2324C>T (p.Ser775Leu)
c.1928C>T (p.Ser643Leu)
c.1670C>T (p.Ser557Leu)
10g.75028838A>CCA470299669DUSP29,KAT6Bc.4014A>C (p.Ser1338=)
c.3465A>C (p.Ser1155=)
c.3138A>C (p.Ser1046=)
c.2949A>C (p.Ser983=)
n.577-2244T>G
c.*3622-2244T>G (n.*3622-2244T>G)
c.3852A>C (p.Ser1284=)
c.2976A>C (p.Ser992=)
c.2325A>C (p.Ser775=)
c.1929A>C (p.Ser643=)
c.1671A>C (p.Ser557=)
10g.75028838A>GCA470299667DUSP29,KAT6Bc.4014A>G (p.Ser1338=)
c.3465A>G (p.Ser1155=)
c.3138A>G (p.Ser1046=)
c.2949A>G (p.Ser983=)
n.577-2244T>C
c.*3622-2244T>C (n.*3622-2244T>C)
c.3852A>G (p.Ser1284=)
c.2976A>G (p.Ser992=)
c.2325A>G (p.Ser775=)
c.1929A>G (p.Ser643=)
c.1671A>G (p.Ser557=)
10g.75028838A>TCA470299666DUSP29,KAT6Bc.4014A>T (p.Ser1338=)
c.3465A>T (p.Ser1155=)
c.3138A>T (p.Ser1046=)
c.2949A>T (p.Ser983=)
n.577-2244T>A
c.*3622-2244T>A (n.*3622-2244T>A)
c.3852A>T (p.Ser1284=)
c.2976A>T (p.Ser992=)
c.2325A>T (p.Ser775=)
c.1929A>T (p.Ser643=)
c.1671A>T (p.Ser557=)
10g.75028839C>ACA377295019DUSP29,KAT6Bc.4015C>A (p.Pro1339Thr)
c.3466C>A (p.Pro1156Thr)
c.3139C>A (p.Pro1047Thr)
c.2950C>A (p.Pro984Thr)
n.577-2245G>T
c.*3622-2245G>T (n.*3622-2245G>T)
c.3853C>A (p.Pro1285Thr)
c.2977C>A (p.Pro993Thr)
c.2326C>A (p.Pro776Thr)
c.1930C>A (p.Pro644Thr)
c.1672C>A (p.Pro558Thr)
10g.75028839C>GCA377295016DUSP29,KAT6Bc.4015C>G (p.Pro1339Ala)
c.3466C>G (p.Pro1156Ala)
c.3139C>G (p.Pro1047Ala)
c.2950C>G (p.Pro984Ala)
n.577-2245G>C
c.*3622-2245G>C (n.*3622-2245G>C)
c.3853C>G (p.Pro1285Ala)
c.2977C>G (p.Pro993Ala)
c.2326C>G (p.Pro776Ala)
c.1930C>G (p.Pro644Ala)
c.1672C>G (p.Pro558Ala)
10g.75028839C>TCA377295017DUSP29,KAT6Bc.4015C>T (p.Pro1339Ser)
c.3466C>T (p.Pro1156Ser)
c.3139C>T (p.Pro1047Ser)
c.2950C>T (p.Pro984Ser)
n.577-2245G>A
c.*3622-2245G>A (n.*3622-2245G>A)
c.3853C>T (p.Pro1285Ser)
c.2977C>T (p.Pro993Ser)
c.2326C>T (p.Pro776Ser)
c.1930C>T (p.Pro644Ser)
c.1672C>T (p.Pro558Ser)
10g.75028840C>ACA377295022DUSP29,KAT6Bc.4016C>A (p.Pro1339Gln)
c.3467C>A (p.Pro1156Gln)
c.3140C>A (p.Pro1047Gln)
c.2951C>A (p.Pro984Gln)
n.577-2246G>T
c.*3622-2246G>T (n.*3622-2246G>T)
c.3854C>A (p.Pro1285Gln)
c.2978C>A (p.Pro993Gln)
c.2327C>A (p.Pro776Gln)
c.1931C>A (p.Pro644Gln)
c.1673C>A (p.Pro558Gln)
10g.75028840C>GCA377295023DUSP29,KAT6Bc.4016C>G (p.Pro1339Arg)
c.3467C>G (p.Pro1156Arg)
c.3140C>G (p.Pro1047Arg)
c.2951C>G (p.Pro984Arg)
n.577-2246G>C
c.*3622-2246G>C (n.*3622-2246G>C)
c.3854C>G (p.Pro1285Arg)
c.2978C>G (p.Pro993Arg)
c.2327C>G (p.Pro776Arg)
c.1931C>G (p.Pro644Arg)
c.1673C>G (p.Pro558Arg)
10g.75028840C>TCA377295025DUSP29,KAT6Bc.4016C>T (p.Pro1339Leu)
c.3467C>T (p.Pro1156Leu)
c.3140C>T (p.Pro1047Leu)
c.2951C>T (p.Pro984Leu)
n.577-2246G>A
c.*3622-2246G>A (n.*3622-2246G>A)
c.3854C>T (p.Pro1285Leu)
c.2978C>T (p.Pro993Leu)
c.2327C>T (p.Pro776Leu)
c.1931C>T (p.Pro644Leu)
c.1673C>T (p.Pro558Leu)
10g.75028841delCA2695212202DUSP29,KAT6Bc.4017del (p.Gly1340ValfsTer?)
c.3468del (p.Gly1157ValfsTer?)
c.3141del (p.Gly1048ValfsTer?)
c.2952del (p.Gly985ValfsTer?)
n.577-2247del
c.*3622-2247del (n.*3622-2247del)
c.3855del (p.Gly1286ValfsTer?)
c.2979del (p.Gly994ValfsTer?)
c.2328del (p.Gly777ValfsTer?)
c.1932del (p.Gly645ValfsTer?)
c.1674del (p.Gly559ValfsTer?)
10g.75028841A>CCA470299672DUSP29,KAT6Bc.4017A>C (p.Pro1339=)
c.3468A>C (p.Pro1156=)
c.3141A>C (p.Pro1047=)
c.2952A>C (p.Pro984=)
n.577-2247T>G
c.*3622-2247T>G (n.*3622-2247T>G)
c.3855A>C (p.Pro1285=)
c.2979A>C (p.Pro993=)
c.2328A>C (p.Pro776=)
c.1932A>C (p.Pro644=)
c.1674A>C (p.Pro558=)
10g.75028841A>GCA470299673DUSP29,KAT6Bc.4017A>G (p.Pro1339=)
c.3468A>G (p.Pro1156=)
c.3141A>G (p.Pro1047=)
c.2952A>G (p.Pro984=)
n.577-2247T>C
c.*3622-2247T>C (n.*3622-2247T>C)
c.3855A>G (p.Pro1285=)
c.2979A>G (p.Pro993=)
c.2328A>G (p.Pro776=)
c.1932A>G (p.Pro644=)
c.1674A>G (p.Pro558=)
10g.75028841A>TCA470299674DUSP29,KAT6Bc.4017A>T (p.Pro1339=)
c.3468A>T (p.Pro1156=)
c.3141A>T (p.Pro1047=)
c.2952A>T (p.Pro984=)
n.577-2247T>A
c.*3622-2247T>A (n.*3622-2247T>A)
c.3855A>T (p.Pro1285=)
c.2979A>T (p.Pro993=)
c.2328A>T (p.Pro776=)
c.1932A>T (p.Pro644=)
c.1674A>T (p.Pro558=)
10g.75028842G>ACA377295026DUSP29,KAT6Bc.4018G>A (p.Gly1340Ser)
c.3469G>A (p.Gly1157Ser)
c.3142G>A (p.Gly1048Ser)
c.2953G>A (p.Gly985Ser)
n.577-2248C>T
c.*3622-2248C>T (n.*3622-2248C>T)
c.3856G>A (p.Gly1286Ser)
c.2980G>A (p.Gly994Ser)
c.2329G>A (p.Gly777Ser)
c.1933G>A (p.Gly645Ser)
c.1675G>A (p.Gly559Ser)
10g.75028842G>CCA377295028DUSP29,KAT6Bc.4018G>C (p.Gly1340Arg)
c.3469G>C (p.Gly1157Arg)
c.3142G>C (p.Gly1048Arg)
c.2953G>C (p.Gly985Arg)
n.577-2248C>G
c.*3622-2248C>G (n.*3622-2248C>G)
c.3856G>C (p.Gly1286Arg)
c.2980G>C (p.Gly994Arg)
c.2329G>C (p.Gly777Arg)
c.1933G>C (p.Gly645Arg)
c.1675G>C (p.Gly559Arg)
10g.75028842G>TCA377295030DUSP29,KAT6Bc.4018G>T (p.Gly1340Cys)
c.3469G>T (p.Gly1157Cys)
c.3142G>T (p.Gly1048Cys)
c.2953G>T (p.Gly985Cys)
n.577-2248C>A
c.*3622-2248C>A (n.*3622-2248C>A)
c.3856G>T (p.Gly1286Cys)
c.2980G>T (p.Gly994Cys)
c.2329G>T (p.Gly777Cys)
c.1933G>T (p.Gly645Cys)
c.1675G>T (p.Gly559Cys)
10g.75028843G>ACA377295032DUSP29,KAT6Bc.4019G>A (p.Gly1340Asp)
c.3470G>A (p.Gly1157Asp)
c.3143G>A (p.Gly1048Asp)
c.2954G>A (p.Gly985Asp)
n.577-2249C>T
c.*3622-2249C>T (n.*3622-2249C>T)
c.3857G>A (p.Gly1286Asp)
c.2981G>A (p.Gly994Asp)
c.2330G>A (p.Gly777Asp)
c.1934G>A (p.Gly645Asp)
c.1676G>A (p.Gly559Asp)
10g.75028843G>CCA377295034DUSP29,KAT6Bc.4019G>C (p.Gly1340Ala)
c.3470G>C (p.Gly1157Ala)
c.3143G>C (p.Gly1048Ala)
c.2954G>C (p.Gly985Ala)
n.577-2249C>G
c.*3622-2249C>G (n.*3622-2249C>G)
c.3857G>C (p.Gly1286Ala)
c.2981G>C (p.Gly994Ala)
c.2330G>C (p.Gly777Ala)
c.1934G>C (p.Gly645Ala)
c.1676G>C (p.Gly559Ala)
10g.75028843G>TCA377295036DUSP29,KAT6Bc.4019G>T (p.Gly1340Val)
c.3470G>T (p.Gly1157Val)
c.3143G>T (p.Gly1048Val)
c.2954G>T (p.Gly985Val)
n.577-2249C>A
c.*3622-2249C>A (n.*3622-2249C>A)
c.3857G>T (p.Gly1286Val)
c.2981G>T (p.Gly994Val)
c.2330G>T (p.Gly777Val)
c.1934G>T (p.Gly645Val)
c.1676G>T (p.Gly559Val)
gnomAD v4
10g.75028844T>ACA470299676DUSP29,KAT6Bc.4020T>A (p.Gly1340=)
c.3471T>A (p.Gly1157=)
c.3144T>A (p.Gly1048=)
c.2955T>A (p.Gly985=)
n.577-2250A>T
c.*3622-2250A>T (n.*3622-2250A>T)
c.3858T>A (p.Gly1286=)
c.2982T>A (p.Gly994=)
c.2331T>A (p.Gly777=)
c.1935T>A (p.Gly645=)
c.1677T>A (p.Gly559=)
10g.75028844T>CCA470299678DUSP29,KAT6Bc.4020T>C (p.Gly1340=)
c.3471T>C (p.Gly1157=)
c.3144T>C (p.Gly1048=)
c.2955T>C (p.Gly985=)
n.577-2250A>G
c.*3622-2250A>G (n.*3622-2250A>G)
c.3858T>C (p.Gly1286=)
c.2982T>C (p.Gly994=)
c.2331T>C (p.Gly777=)
c.1935T>C (p.Gly645=)
c.1677T>C (p.Gly559=)
10g.75028844T>GCA470299677DUSP29,KAT6Bc.4020T>G (p.Gly1340=)
c.3471T>G (p.Gly1157=)
c.3144T>G (p.Gly1048=)
c.2955T>G (p.Gly985=)
n.577-2250A>C
c.*3622-2250A>C (n.*3622-2250A>C)
c.3858T>G (p.Gly1286=)
c.2982T>G (p.Gly994=)
c.2331T>G (p.Gly777=)
c.1935T>G (p.Gly645=)
c.1677T>G (p.Gly559=)
10g.75028845G>ACA377295038DUSP29,KAT6Bc.4021G>A (p.Glu1341Lys)
c.3472G>A (p.Glu1158Lys)
c.3145G>A (p.Glu1049Lys)
c.2956G>A (p.Glu986Lys)
n.577-2251C>T
c.*3622-2251C>T (n.*3622-2251C>T)
c.3859G>A (p.Glu1287Lys)
c.2983G>A (p.Glu995Lys)
c.2332G>A (p.Glu778Lys)
c.1936G>A (p.Glu646Lys)
c.1678G>A (p.Glu560Lys)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.75028845G>CCA377295040DUSP29,KAT6Bc.4021G>C (p.Glu1341Gln)
c.3472G>C (p.Glu1158Gln)
c.3145G>C (p.Glu1049Gln)
c.2956G>C (p.Glu986Gln)
n.577-2251C>G
c.*3622-2251C>G (n.*3622-2251C>G)
c.3859G>C (p.Glu1287Gln)
c.2983G>C (p.Glu995Gln)
c.2332G>C (p.Glu778Gln)
c.1936G>C (p.Glu646Gln)
c.1678G>C (p.Glu560Gln)
10g.75028845G=CA1920306476DUSP29,KAT6Bc.4021G= (p.Glu1341=)
c.3472G= (p.Glu1158=)
c.3145G= (p.Glu1049=)
c.2956G= (p.Glu986=)
n.577-2251C=
c.*3622-2251C= (n.*3622-2251C=)
c.3859G= (p.Glu1287=)
c.2983G= (p.Glu995=)
c.2332G= (p.Glu778=)
c.1936G= (p.Glu646=)
c.1678G= (p.Glu560=)
10g.75028845G>TCA377295042DUSP29,KAT6Bc.4021G>T (p.Glu1341Ter)
c.3472G>T (p.Glu1158Ter)
c.3145G>T (p.Glu1049Ter)
c.2956G>T (p.Glu986Ter)
n.577-2251C>A
c.*3622-2251C>A (n.*3622-2251C>A)
c.3859G>T (p.Glu1287Ter)
c.2983G>T (p.Glu995Ter)
c.2332G>T (p.Glu778Ter)
c.1936G>T (p.Glu646Ter)
c.1678G>T (p.Glu560Ter)
10g.75028846A>CCA377295046DUSP29,KAT6Bc.4022A>C (p.Glu1341Ala)
c.3473A>C (p.Glu1158Ala)
c.3146A>C (p.Glu1049Ala)
c.2957A>C (p.Glu986Ala)
n.577-2252T>G
c.*3622-2252T>G (n.*3622-2252T>G)
c.3860A>C (p.Glu1287Ala)
c.2984A>C (p.Glu995Ala)
c.2333A>C (p.Glu778Ala)
c.1937A>C (p.Glu646Ala)
c.1679A>C (p.Glu560Ala)
10g.75028846A>GCA377295044DUSP29,KAT6Bc.4022A>G (p.Glu1341Gly)
c.3473A>G (p.Glu1158Gly)
c.3146A>G (p.Glu1049Gly)
c.2957A>G (p.Glu986Gly)
n.577-2252T>C
c.*3622-2252T>C (n.*3622-2252T>C)
c.3860A>G (p.Glu1287Gly)
c.2984A>G (p.Glu995Gly)
c.2333A>G (p.Glu778Gly)
c.1937A>G (p.Glu646Gly)
c.1679A>G (p.Glu560Gly)
10g.75028846A>TCA377295043DUSP29,KAT6Bc.4022A>T (p.Glu1341Val)
c.3473A>T (p.Glu1158Val)
c.3146A>T (p.Glu1049Val)
c.2957A>T (p.Glu986Val)
n.577-2252T>A
c.*3622-2252T>A (n.*3622-2252T>A)
c.3860A>T (p.Glu1287Val)
c.2984A>T (p.Glu995Val)
c.2333A>T (p.Glu778Val)
c.1937A>T (p.Glu646Val)
c.1679A>T (p.Glu560Val)
10g.75028847A>CCA377295048DUSP29,KAT6Bc.4023A>C (p.Glu1341Asp)
c.3474A>C (p.Glu1158Asp)
c.3147A>C (p.Glu1049Asp)
c.2958A>C (p.Glu986Asp)
n.577-2253T>G
c.*3622-2253T>G (n.*3622-2253T>G)
c.3861A>C (p.Glu1287Asp)
c.2985A>C (p.Glu995Asp)
c.2334A>C (p.Glu778Asp)
c.1938A>C (p.Glu646Asp)
c.1680A>C (p.Glu560Asp)
10g.75028847A>GCA470299679DUSP29,KAT6Bc.4023A>G (p.Glu1341=)
c.3474A>G (p.Glu1158=)
c.3147A>G (p.Glu1049=)
c.2958A>G (p.Glu986=)
n.577-2253T>C
c.*3622-2253T>C (n.*3622-2253T>C)
c.3861A>G (p.Glu1287=)
c.2985A>G (p.Glu995=)
c.2334A>G (p.Glu778=)
c.1938A>G (p.Glu646=)
c.1680A>G (p.Glu560=)
10g.75028847A>TCA377295050DUSP29,KAT6Bc.4023A>T (p.Glu1341Asp)
c.3474A>T (p.Glu1158Asp)
c.3147A>T (p.Glu1049Asp)
c.2958A>T (p.Glu986Asp)
n.577-2253T>A
c.*3622-2253T>A (n.*3622-2253T>A)
c.3861A>T (p.Glu1287Asp)
c.2985A>T (p.Glu995Asp)
c.2334A>T (p.Glu778Asp)
c.1938A>T (p.Glu646Asp)
c.1680A>T (p.Glu560Asp)
10g.75028848A>CCA377295053DUSP29,KAT6Bc.4024A>C (p.Lys1342Gln)
c.3475A>C (p.Lys1159Gln)
c.3148A>C (p.Lys1050Gln)
c.2959A>C (p.Lys987Gln)
n.577-2254T>G
c.*3622-2254T>G (n.*3622-2254T>G)
c.3862A>C (p.Lys1288Gln)
c.2986A>C (p.Lys996Gln)
c.2335A>C (p.Lys779Gln)
c.1939A>C (p.Lys647Gln)
c.1681A>C (p.Lys561Gln)
10g.75028848A>GCA377295057DUSP29,KAT6Bc.4024A>G (p.Lys1342Glu)
c.3475A>G (p.Lys1159Glu)
c.3148A>G (p.Lys1050Glu)
c.2959A>G (p.Lys987Glu)
n.577-2254T>C
c.*3622-2254T>C (n.*3622-2254T>C)
c.3862A>G (p.Lys1288Glu)
c.2986A>G (p.Lys996Glu)
c.2335A>G (p.Lys779Glu)
c.1939A>G (p.Lys647Glu)
c.1681A>G (p.Lys561Glu)
10g.75028848A>TCA377295055DUSP29,KAT6Bc.4024A>T (p.Lys1342Ter)
c.3475A>T (p.Lys1159Ter)
c.3148A>T (p.Lys1050Ter)
c.2959A>T (p.Lys987Ter)
n.577-2254T>A
c.*3622-2254T>A (n.*3622-2254T>A)
c.3862A>T (p.Lys1288Ter)
c.2986A>T (p.Lys996Ter)
c.2335A>T (p.Lys779Ter)
c.1939A>T (p.Lys647Ter)
c.1681A>T (p.Lys561Ter)
10g.75028849A>CCA377295059DUSP29,KAT6Bc.4025A>C (p.Lys1342Thr)
c.3476A>C (p.Lys1159Thr)
c.3149A>C (p.Lys1050Thr)
c.2960A>C (p.Lys987Thr)
n.577-2255T>G
c.*3622-2255T>G (n.*3622-2255T>G)
c.3863A>C (p.Lys1288Thr)
c.2987A>C (p.Lys996Thr)
c.2336A>C (p.Lys779Thr)
c.1940A>C (p.Lys647Thr)
c.1682A>C (p.Lys561Thr)
10g.75028849A>GCA377295061DUSP29,KAT6Bc.4025A>G (p.Lys1342Arg)
c.3476A>G (p.Lys1159Arg)
c.3149A>G (p.Lys1050Arg)
c.2960A>G (p.Lys987Arg)
n.577-2255T>C
c.*3622-2255T>C (n.*3622-2255T>C)
c.3863A>G (p.Lys1288Arg)
c.2987A>G (p.Lys996Arg)
c.2336A>G (p.Lys779Arg)
c.1940A>G (p.Lys647Arg)
c.1682A>G (p.Lys561Arg)
10g.75028849A>TCA377295063DUSP29,KAT6Bc.4025A>T (p.Lys1342Ile)
c.3476A>T (p.Lys1159Ile)
c.3149A>T (p.Lys1050Ile)
c.2960A>T (p.Lys987Ile)
n.577-2255T>A
c.*3622-2255T>A (n.*3622-2255T>A)
c.3863A>T (p.Lys1288Ile)
c.2987A>T (p.Lys996Ile)
c.2336A>T (p.Lys779Ile)
c.1940A>T (p.Lys647Ile)
c.1682A>T (p.Lys561Ile)
10g.75028850A>CCA377295065DUSP29,KAT6Bc.4026A>C (p.Lys1342Asn)
c.3477A>C (p.Lys1159Asn)
c.3150A>C (p.Lys1050Asn)
c.2961A>C (p.Lys987Asn)
n.577-2256T>G
c.*3622-2256T>G (n.*3622-2256T>G)
c.3864A>C (p.Lys1288Asn)
c.2988A>C (p.Lys996Asn)
c.2337A>C (p.Lys779Asn)
c.1941A>C (p.Lys647Asn)
c.1683A>C (p.Lys561Asn)
10g.75028850A>GCA470299680DUSP29,KAT6Bc.4026A>G (p.Lys1342=)
c.3477A>G (p.Lys1159=)
c.3150A>G (p.Lys1050=)
c.2961A>G (p.Lys987=)
n.577-2256T>C
c.*3622-2256T>C (n.*3622-2256T>C)
c.3864A>G (p.Lys1288=)
c.2988A>G (p.Lys996=)
c.2337A>G (p.Lys779=)
c.1941A>G (p.Lys647=)
c.1683A>G (p.Lys561=)
10g.75028850A>TCA377295067DUSP29,KAT6Bc.4026A>T (p.Lys1342Asn)
c.3477A>T (p.Lys1159Asn)
c.3150A>T (p.Lys1050Asn)
c.2961A>T (p.Lys987Asn)
n.577-2256T>A
c.*3622-2256T>A (n.*3622-2256T>A)
c.3864A>T (p.Lys1288Asn)
c.2988A>T (p.Lys996Asn)
c.2337A>T (p.Lys779Asn)
c.1941A>T (p.Lys647Asn)
c.1683A>T (p.Lys561Asn)
10g.75028851C>ACA377295069DUSP29,KAT6Bc.4027C>A (p.Pro1343Thr)
c.3478C>A (p.Pro1160Thr)
c.3151C>A (p.Pro1051Thr)
c.2962C>A (p.Pro988Thr)
n.577-2257G>T
c.*3622-2257G>T (n.*3622-2257G>T)
c.3865C>A (p.Pro1289Thr)
c.2989C>A (p.Pro997Thr)
c.2338C>A (p.Pro780Thr)
c.1942C>A (p.Pro648Thr)
c.1684C>A (p.Pro562Thr)
10g.75028851C=CA1920306477DUSP29,KAT6Bc.4027C= (p.Pro1343=)
c.3478C= (p.Pro1160=)
c.3151C= (p.Pro1051=)
c.2962C= (p.Pro988=)
n.577-2257G=
c.*3622-2257G= (n.*3622-2257G=)
c.3865C= (p.Pro1289=)
c.2989C= (p.Pro997=)
c.2338C= (p.Pro780=)
c.1942C= (p.Pro648=)
c.1684C= (p.Pro562=)
10g.75028851C>GCA377295071DUSP29,KAT6Bc.4027C>G (p.Pro1343Ala)
c.3478C>G (p.Pro1160Ala)
c.3151C>G (p.Pro1051Ala)
c.2962C>G (p.Pro988Ala)
n.577-2257G>C
c.*3622-2257G>C (n.*3622-2257G>C)
c.3865C>G (p.Pro1289Ala)
c.2989C>G (p.Pro997Ala)
c.2338C>G (p.Pro780Ala)
c.1942C>G (p.Pro648Ala)
c.1684C>G (p.Pro562Ala)
10g.75028851C>TCA5564941DUSP29,KAT6Bc.4027C>T (p.Pro1343Ser)
c.3478C>T (p.Pro1160Ser)
c.3151C>T (p.Pro1051Ser)
c.2962C>T (p.Pro988Ser)
n.577-2257G>A
c.*3622-2257G>A (n.*3622-2257G>A)
c.3865C>T (p.Pro1289Ser)
c.2989C>T (p.Pro997Ser)
c.2338C>T (p.Pro780Ser)
c.1942C>T (p.Pro648Ser)
c.1684C>T (p.Pro562Ser)
dbSNP ExAC gnomAD v2 gnomAD v4
10g.75028852C>ACA377295074DUSP29,KAT6Bc.4028C>A (p.Pro1343Gln)
c.3479C>A (p.Pro1160Gln)
c.3152C>A (p.Pro1051Gln)
c.2963C>A (p.Pro988Gln)
n.577-2258G>T
c.*3622-2258G>T (n.*3622-2258G>T)
c.3866C>A (p.Pro1289Gln)
c.2990C>A (p.Pro997Gln)
c.2339C>A (p.Pro780Gln)
c.1943C>A (p.Pro648Gln)
c.1685C>A (p.Pro562Gln)
10g.75028852C>GCA377295075DUSP29,KAT6Bc.4028C>G (p.Pro1343Arg)
c.3479C>G (p.Pro1160Arg)
c.3152C>G (p.Pro1051Arg)
c.2963C>G (p.Pro988Arg)
n.577-2258G>C
c.*3622-2258G>C (n.*3622-2258G>C)
c.3866C>G (p.Pro1289Arg)
c.2990C>G (p.Pro997Arg)
c.2339C>G (p.Pro780Arg)
c.1943C>G (p.Pro648Arg)
c.1685C>G (p.Pro562Arg)
10g.75028852C>TCA377295077DUSP29,KAT6Bc.4028C>T (p.Pro1343Leu)
c.3479C>T (p.Pro1160Leu)
c.3152C>T (p.Pro1051Leu)
c.2963C>T (p.Pro988Leu)
n.577-2258G>A
c.*3622-2258G>A (n.*3622-2258G>A)
c.3866C>T (p.Pro1289Leu)
c.2990C>T (p.Pro997Leu)
c.2339C>T (p.Pro780Leu)
c.1943C>T (p.Pro648Leu)
c.1685C>T (p.Pro562Leu)
10g.75028853A>CCA470299682DUSP29,KAT6Bc.4029A>C (p.Pro1343=)
c.3480A>C (p.Pro1160=)
c.3153A>C (p.Pro1051=)
c.2964A>C (p.Pro988=)
n.577-2259T>G
c.*3622-2259T>G (n.*3622-2259T>G)
c.3867A>C (p.Pro1289=)
c.2991A>C (p.Pro997=)
c.2340A>C (p.Pro780=)
c.1944A>C (p.Pro648=)
c.1686A>C (p.Pro562=)
10g.75028853A>GCA470299683DUSP29,KAT6Bc.4029A>G (p.Pro1343=)
c.3480A>G (p.Pro1160=)
c.3153A>G (p.Pro1051=)
c.2964A>G (p.Pro988=)
n.577-2259T>C
c.*3622-2259T>C (n.*3622-2259T>C)
c.3867A>G (p.Pro1289=)
c.2991A>G (p.Pro997=)
c.2340A>G (p.Pro780=)
c.1944A>G (p.Pro648=)
c.1686A>G (p.Pro562=)
10g.75028853A>TCA470299684DUSP29,KAT6Bc.4029A>T (p.Pro1343=)
c.3480A>T (p.Pro1160=)
c.3153A>T (p.Pro1051=)
c.2964A>T (p.Pro988=)
n.577-2259T>A
c.*3622-2259T>A (n.*3622-2259T>A)
c.3867A>T (p.Pro1289=)
c.2991A>T (p.Pro997=)
c.2340A>T (p.Pro780=)
c.1944A>T (p.Pro648=)
c.1686A>T (p.Pro562=)
10g.75028856_75028858delCA2497028974DUSP29,KAT6Bc.4032_4034del (p.Glu1344del)
c.3483_3485del (p.Glu1161del)
c.3156_3158del (p.Glu1052del)
c.2967_2969del (p.Glu989del)
n.577-2261_577-2259del
c.*3622-2261_*3622-2259del (n.*3622-2261_*3622-2259del)
c.3870_3872del (p.Glu1290del)
c.2994_2996del (p.Glu998del)
c.2343_2345del (p.Glu781del)
c.1947_1949del (p.Glu649del)
c.1689_1691del (p.Glu563del)
10g.75028854G>ACA377295083DUSP29,KAT6Bc.4030G>A (p.Glu1344Lys)
c.3481G>A (p.Glu1161Lys)
c.3154G>A (p.Glu1052Lys)
c.2965G>A (p.Glu989Lys)
n.577-2260C>T
c.*3622-2260C>T (n.*3622-2260C>T)
c.3868G>A (p.Glu1290Lys)
c.2992G>A (p.Glu998Lys)
c.2341G>A (p.Glu781Lys)
c.1945G>A (p.Glu649Lys)
c.1687G>A (p.Glu563Lys)
gnomAD v4
10g.75028854G>CCA377295082DUSP29,KAT6Bc.4030G>C (p.Glu1344Gln)
c.3481G>C (p.Glu1161Gln)
c.3154G>C (p.Glu1052Gln)
c.2965G>C (p.Glu989Gln)
n.577-2260C>G
c.*3622-2260C>G (n.*3622-2260C>G)
c.3868G>C (p.Glu1290Gln)
c.2992G>C (p.Glu998Gln)
c.2341G>C (p.Glu781Gln)
c.1945G>C (p.Glu649Gln)
c.1687G>C (p.Glu563Gln)
10g.75028854G>TCA377295080DUSP29,KAT6Bc.4030G>T (p.Glu1344Ter)
c.3481G>T (p.Glu1161Ter)
c.3154G>T (p.Glu1052Ter)
c.2965G>T (p.Glu989Ter)
n.577-2260C>A
c.*3622-2260C>A (n.*3622-2260C>A)
c.3868G>T (p.Glu1290Ter)
c.2992G>T (p.Glu998Ter)
c.2341G>T (p.Glu781Ter)
c.1945G>T (p.Glu649Ter)
c.1687G>T (p.Glu563Ter)
10g.75028855A>CCA377295087DUSP29,KAT6Bc.4031A>C (p.Glu1344Ala)
c.3482A>C (p.Glu1161Ala)
c.3155A>C (p.Glu1052Ala)
c.2966A>C (p.Glu989Ala)
n.577-2261T>G
c.*3622-2261T>G (n.*3622-2261T>G)
c.3869A>C (p.Glu1290Ala)
c.2993A>C (p.Glu998Ala)
c.2342A>C (p.Glu781Ala)
c.1946A>C (p.Glu649Ala)
c.1688A>C (p.Glu563Ala)
10g.75028855A>GCA377295088DUSP29,KAT6Bc.4031A>G (p.Glu1344Gly)
c.3482A>G (p.Glu1161Gly)
c.3155A>G (p.Glu1052Gly)
c.2966A>G (p.Glu989Gly)
n.577-2261T>C
c.*3622-2261T>C (n.*3622-2261T>C)
c.3869A>G (p.Glu1290Gly)
c.2993A>G (p.Glu998Gly)
c.2342A>G (p.Glu781Gly)
c.1946A>G (p.Glu649Gly)
c.1688A>G (p.Glu563Gly)
10g.75028855A>TCA377295090DUSP29,KAT6Bc.4031A>T (p.Glu1344Val)
c.3482A>T (p.Glu1161Val)
c.3155A>T (p.Glu1052Val)
c.2966A>T (p.Glu989Val)
n.577-2261T>A
c.*3622-2261T>A (n.*3622-2261T>A)
c.3869A>T (p.Glu1290Val)
c.2993A>T (p.Glu998Val)
c.2342A>T (p.Glu781Val)
c.1946A>T (p.Glu649Val)
c.1688A>T (p.Glu563Val)
10g.75028856A>CCA377295092DUSP29,KAT6Bc.4032A>C (p.Glu1344Asp)
c.3483A>C (p.Glu1161Asp)
c.3156A>C (p.Glu1052Asp)
c.2967A>C (p.Glu989Asp)
n.577-2262T>G
c.*3622-2262T>G (n.*3622-2262T>G)
c.3870A>C (p.Glu1290Asp)
c.2994A>C (p.Glu998Asp)
c.2343A>C (p.Glu781Asp)
c.1947A>C (p.Glu649Asp)
c.1689A>C (p.Glu563Asp)
10g.75028856A>GCA470299686DUSP29,KAT6Bc.4032A>G (p.Glu1344=)
c.3483A>G (p.Glu1161=)
c.3156A>G (p.Glu1052=)
c.2967A>G (p.Glu989=)
n.577-2262T>C
c.*3622-2262T>C (n.*3622-2262T>C)
c.3870A>G (p.Glu1290=)
c.2994A>G (p.Glu998=)
c.2343A>G (p.Glu781=)
c.1947A>G (p.Glu649=)
c.1689A>G (p.Glu563=)
gnomAD v4
10g.75028856A>TCA377295094DUSP29,KAT6Bc.4032A>T (p.Glu1344Asp)
c.3483A>T (p.Glu1161Asp)
c.3156A>T (p.Glu1052Asp)
c.2967A>T (p.Glu989Asp)
n.577-2262T>A
c.*3622-2262T>A (n.*3622-2262T>A)
c.3870A>T (p.Glu1290Asp)
c.2994A>T (p.Glu998Asp)
c.2343A>T (p.Glu781Asp)
c.1947A>T (p.Glu649Asp)
c.1689A>T (p.Glu563Asp)
gnomAD v4
10g.75028857G>ACA377295097DUSP29,KAT6Bc.4033G>A (p.Asp1345Asn)
c.3484G>A (p.Asp1162Asn)
c.3157G>A (p.Asp1053Asn)
c.2968G>A (p.Asp990Asn)
n.577-2263C>T
c.*3622-2263C>T (n.*3622-2263C>T)
c.3871G>A (p.Asp1291Asn)
c.2995G>A (p.Asp999Asn)
c.2344G>A (p.Asp782Asn)
c.1948G>A (p.Asp650Asn)
c.1690G>A (p.Asp564Asn)
10g.75028857G>CCA377295099DUSP29,KAT6Bc.4033G>C (p.Asp1345His)
c.3484G>C (p.Asp1162His)
c.3157G>C (p.Asp1053His)
c.2968G>C (p.Asp990His)
n.577-2263C>G
c.*3622-2263C>G (n.*3622-2263C>G)
c.3871G>C (p.Asp1291His)
c.2995G>C (p.Asp999His)
c.2344G>C (p.Asp782His)
c.1948G>C (p.Asp650His)
c.1690G>C (p.Asp564His)
10g.75028857G>TCA377295100DUSP29,KAT6Bc.4033G>T (p.Asp1345Tyr)
c.3484G>T (p.Asp1162Tyr)
c.3157G>T (p.Asp1053Tyr)
c.2968G>T (p.Asp990Tyr)
n.577-2263C>A
c.*3622-2263C>A (n.*3622-2263C>A)
c.3871G>T (p.Asp1291Tyr)
c.2995G>T (p.Asp999Tyr)
c.2344G>T (p.Asp782Tyr)
c.1948G>T (p.Asp650Tyr)
c.1690G>T (p.Asp564Tyr)
10g.75028860_75028862delCA2697558498DUSP29,KAT6Bc.4036_4038del (p.Asp1346del)
c.3487_3489del (p.Asp1163del)
c.3160_3162del (p.Asp1054del)
c.2971_2973del (p.Asp991del)
n.577-2265_577-2263del
c.*3622-2265_*3622-2263del (n.*3622-2265_*3622-2263del)
c.3874_3876del (p.Asp1292del)
c.2998_3000del (p.Asp1000del)
c.2347_2349del (p.Asp783del)
c.1951_1953del (p.Asp651del)
c.1693_1695del (p.Asp565del)
ClinVar
10g.75028858A=CA1920306478DUSP29,KAT6Bc.4034A= (p.Asp1345=)
c.3485A= (p.Asp1162=)
c.3158A= (p.Asp1053=)
c.2969A= (p.Asp990=)
n.577-2264T=
c.*3622-2264T= (n.*3622-2264T=)
c.3872A= (p.Asp1291=)
c.2996A= (p.Asp999=)
c.2345A= (p.Asp782=)
c.1949A= (p.Asp650=)
c.1691A= (p.Asp564=)
10g.75028858A>CCA377295103DUSP29,KAT6Bc.4034A>C (p.Asp1345Ala)
c.3485A>C (p.Asp1162Ala)
c.3158A>C (p.Asp1053Ala)
c.2969A>C (p.Asp990Ala)
n.577-2264T>G
c.*3622-2264T>G (n.*3622-2264T>G)
c.3872A>C (p.Asp1291Ala)
c.2996A>C (p.Asp999Ala)
c.2345A>C (p.Asp782Ala)
c.1949A>C (p.Asp650Ala)
c.1691A>C (p.Asp564Ala)
10g.75028858A>GCA377295105DUSP29,KAT6Bc.4034A>G (p.Asp1345Gly)
c.3485A>G (p.Asp1162Gly)
c.3158A>G (p.Asp1053Gly)
c.2969A>G (p.Asp990Gly)
n.577-2264T>C
c.*3622-2264T>C (n.*3622-2264T>C)
c.3872A>G (p.Asp1291Gly)
c.2996A>G (p.Asp999Gly)
c.2345A>G (p.Asp782Gly)
c.1949A>G (p.Asp650Gly)
c.1691A>G (p.Asp564Gly)
dbSNP gnomAD v2 gnomAD v4
10g.75028858A>TCA377295107DUSP29,KAT6Bc.4034A>T (p.Asp1345Val)
c.3485A>T (p.Asp1162Val)
c.3158A>T (p.Asp1053Val)
c.2969A>T (p.Asp990Val)
n.577-2264T>A
c.*3622-2264T>A (n.*3622-2264T>A)
c.3872A>T (p.Asp1291Val)
c.2996A>T (p.Asp999Val)
c.2345A>T (p.Asp782Val)
c.1949A>T (p.Asp650Val)
c.1691A>T (p.Asp564Val)
10g.75028859T>ACA377295112DUSP29,KAT6Bc.4035T>A (p.Asp1345Glu)
c.3486T>A (p.Asp1162Glu)
c.3159T>A (p.Asp1053Glu)
c.2970T>A (p.Asp990Glu)
n.577-2265A>T
c.*3622-2265A>T (n.*3622-2265A>T)
c.3873T>A (p.Asp1291Glu)
c.2997T>A (p.Asp999Glu)
c.2346T>A (p.Asp782Glu)
c.1950T>A (p.Asp650Glu)
c.1692T>A (p.Asp564Glu)
10g.75028859T>CCA5564942DUSP29,KAT6Bc.4035T>C (p.Asp1345=)
c.3486T>C (p.Asp1162=)
c.3159T>C (p.Asp1053=)
c.2970T>C (p.Asp990=)
n.577-2265A>G
c.*3622-2265A>G (n.*3622-2265A>G)
c.3873T>C (p.Asp1291=)
c.2997T>C (p.Asp999=)
c.2346T>C (p.Asp782=)
c.1950T>C (p.Asp650=)
c.1692T>C (p.Asp564=)
dbSNP ExAC gnomAD v2 gnomAD v4
10g.75028859T>GCA377295109DUSP29,KAT6Bc.4035T>G (p.Asp1345Glu)
c.3486T>G (p.Asp1162Glu)
c.3159T>G (p.Asp1053Glu)
c.2970T>G (p.Asp990Glu)
n.577-2265A>C
c.*3622-2265A>C (n.*3622-2265A>C)
c.3873T>G (p.Asp1291Glu)
c.2997T>G (p.Asp999Glu)
c.2346T>G (p.Asp782Glu)
c.1950T>G (p.Asp650Glu)
c.1692T>G (p.Asp564Glu)
10g.75028859T=CA1920306479DUSP29,KAT6Bc.4035T= (p.Asp1345=)
c.3486T= (p.Asp1162=)
c.3159T= (p.Asp1053=)
c.2970T= (p.Asp990=)
n.577-2265A=
c.*3622-2265A= (n.*3622-2265A=)
c.3873T= (p.Asp1291=)
c.2997T= (p.Asp999=)
c.2346T= (p.Asp782=)
c.1950T= (p.Asp650=)
c.1692T= (p.Asp564=)
10g.75028860G>ACA377295113DUSP29,KAT6Bc.4036G>A (p.Asp1346Asn)
c.3487G>A (p.Asp1163Asn)
c.3160G>A (p.Asp1054Asn)
c.2971G>A (p.Asp991Asn)
n.577-2266C>T
c.*3622-2266C>T (n.*3622-2266C>T)
c.3874G>A (p.Asp1292Asn)
c.2998G>A (p.Asp1000Asn)
c.2347G>A (p.Asp783Asn)
c.1951G>A (p.Asp651Asn)
c.1693G>A (p.Asp565Asn)
10g.75028860G>CCA377295115DUSP29,KAT6Bc.4036G>C (p.Asp1346His)
c.3487G>C (p.Asp1163His)
c.3160G>C (p.Asp1054His)
c.2971G>C (p.Asp991His)
n.577-2266C>G
c.*3622-2266C>G (n.*3622-2266C>G)
c.3874G>C (p.Asp1292His)
c.2998G>C (p.Asp1000His)
c.2347G>C (p.Asp783His)
c.1951G>C (p.Asp651His)
c.1693G>C (p.Asp565His)
10g.75028860G=CA1920306480DUSP29,KAT6Bc.4036G= (p.Asp1346=)
c.3487G= (p.Asp1163=)
c.3160G= (p.Asp1054=)
c.2971G= (p.Asp991=)
n.577-2266C=
c.*3622-2266C= (n.*3622-2266C=)
c.3874G= (p.Asp1292=)
c.2998G= (p.Asp1000=)
c.2347G= (p.Asp783=)
c.1951G= (p.Asp651=)
c.1693G= (p.Asp565=)
10g.75028860G>TCA5564943DUSP29,KAT6Bc.4036G>T (p.Asp1346Tyr)
c.3487G>T (p.Asp1163Tyr)
c.3160G>T (p.Asp1054Tyr)
c.2971G>T (p.Asp991Tyr)
n.577-2266C>A
c.*3622-2266C>A (n.*3622-2266C>A)
c.3874G>T (p.Asp1292Tyr)
c.2998G>T (p.Asp1000Tyr)
c.2347G>T (p.Asp783Tyr)
c.1951G>T (p.Asp651Tyr)
c.1693G>T (p.Asp565Tyr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.75028861A=CA1920306481DUSP29,KAT6Bc.4037A= (p.Asp1346=)
c.3488A= (p.Asp1163=)
c.3161A= (p.Asp1054=)
c.2972A= (p.Asp991=)
n.577-2267T=
c.*3622-2267T= (n.*3622-2267T=)
c.3875A= (p.Asp1292=)
c.2999A= (p.Asp1000=)
c.2348A= (p.Asp783=)
c.1952A= (p.Asp651=)
c.1694A= (p.Asp565=)
10g.75028861A>CCA377295118DUSP29,KAT6Bc.4037A>C (p.Asp1346Ala)
c.3488A>C (p.Asp1163Ala)
c.3161A>C (p.Asp1054Ala)
c.2972A>C (p.Asp991Ala)
n.577-2267T>G
c.*3622-2267T>G (n.*3622-2267T>G)
c.3875A>C (p.Asp1292Ala)
c.2999A>C (p.Asp1000Ala)
c.2348A>C (p.Asp783Ala)
c.1952A>C (p.Asp651Ala)
c.1694A>C (p.Asp565Ala)
10g.75028861A>GCA5564944DUSP29,KAT6Bc.4037A>G (p.Asp1346Gly)
c.3488A>G (p.Asp1163Gly)
c.3161A>G (p.Asp1054Gly)
c.2972A>G (p.Asp991Gly)
n.577-2267T>C
c.*3622-2267T>C (n.*3622-2267T>C)
c.3875A>G (p.Asp1292Gly)
c.2999A>G (p.Asp1000Gly)
c.2348A>G (p.Asp783Gly)
c.1952A>G (p.Asp651Gly)
c.1694A>G (p.Asp565Gly)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.75028861A>TCA377295121DUSP29,KAT6Bc.4037A>T (p.Asp1346Val)
c.3488A>T (p.Asp1163Val)
c.3161A>T (p.Asp1054Val)
c.2972A>T (p.Asp991Val)
n.577-2267T>A
c.*3622-2267T>A (n.*3622-2267T>A)
c.3875A>T (p.Asp1292Val)
c.2999A>T (p.Asp1000Val)
c.2348A>T (p.Asp783Val)
c.1952A>T (p.Asp651Val)
c.1694A>T (p.Asp565Val)
10g.75028862T>ACA377295123DUSP29,KAT6Bc.4038T>A (p.Asp1346Glu)
c.3489T>A (p.Asp1163Glu)
c.3162T>A (p.Asp1054Glu)
c.2973T>A (p.Asp991Glu)
n.577-2268A>T
c.*3622-2268A>T (n.*3622-2268A>T)
c.3876T>A (p.Asp1292Glu)
c.3000T>A (p.Asp1000Glu)
c.2349T>A (p.Asp783Glu)
c.1953T>A (p.Asp651Glu)
c.1695T>A (p.Asp565Glu)
10g.75028862T>CCA470299689DUSP29,KAT6Bc.4038T>C (p.Asp1346=)
c.3489T>C (p.Asp1163=)
c.3162T>C (p.Asp1054=)
c.2973T>C (p.Asp991=)
n.577-2268A>G
c.*3622-2268A>G (n.*3622-2268A>G)
c.3876T>C (p.Asp1292=)
c.3000T>C (p.Asp1000=)
c.2349T>C (p.Asp783=)
c.1953T>C (p.Asp651=)
c.1695T>C (p.Asp565=)
dbSNP gnomAD v2 gnomAD v4
10g.75028862T>GCA377295124DUSP29,KAT6Bc.4038T>G (p.Asp1346Glu)
c.3489T>G (p.Asp1163Glu)
c.3162T>G (p.Asp1054Glu)
c.2973T>G (p.Asp991Glu)
n.577-2268A>C
c.*3622-2268A>C (n.*3622-2268A>C)
c.3876T>G (p.Asp1292Glu)
c.3000T>G (p.Asp1000Glu)
c.2349T>G (p.Asp783Glu)
c.1953T>G (p.Asp651Glu)
c.1695T>G (p.Asp565Glu)
10g.75028862T=CA1920306482DUSP29,KAT6Bc.4038T= (p.Asp1346=)
c.3489T= (p.Asp1163=)
c.3162T= (p.Asp1054=)
c.2973T= (p.Asp991=)
n.577-2268A=
c.*3622-2268A= (n.*3622-2268A=)
c.3876T= (p.Asp1292=)
c.3000T= (p.Asp1000=)
c.2349T= (p.Asp783=)
c.1953T= (p.Asp651=)
c.1695T= (p.Asp565=)

Number of alleles fetched