Chr Mutation (hg38) CAid Gene Transcript Linkouts
10g.75028667G>ACA377292236DUSP29,KAT6Bc.3843G>A (p.Met1281Ile)
c.3294G>A (p.Met1098Ile)
c.2967G>A (p.Met989Ile)
c.2778G>A (p.Met926Ile)
n.577-2073C>T
c.*3622-2073C>T (n.*3622-2073C>T)
c.3681G>A (p.Met1227Ile)
c.2805G>A (p.Met935Ile)
c.2154G>A (p.Met718Ile)
c.1758G>A (p.Met586Ile)
c.1500G>A (p.Met500Ile)
10g.75028667G>CCA377292232DUSP29,KAT6Bc.3843G>C (p.Met1281Ile)
c.3294G>C (p.Met1098Ile)
c.2967G>C (p.Met989Ile)
c.2778G>C (p.Met926Ile)
n.577-2073C>G
c.*3622-2073C>G (n.*3622-2073C>G)
c.3681G>C (p.Met1227Ile)
c.2805G>C (p.Met935Ile)
c.2154G>C (p.Met718Ile)
c.1758G>C (p.Met586Ile)
c.1500G>C (p.Met500Ile)
10g.75028667G>TCA377292231DUSP29,KAT6Bc.3843G>T (p.Met1281Ile)
c.3294G>T (p.Met1098Ile)
c.2967G>T (p.Met989Ile)
c.2778G>T (p.Met926Ile)
n.577-2073C>A
c.*3622-2073C>A (n.*3622-2073C>A)
c.3681G>T (p.Met1227Ile)
c.2805G>T (p.Met935Ile)
c.2154G>T (p.Met718Ile)
c.1758G>T (p.Met586Ile)
c.1500G>T (p.Met500Ile)
10g.75028668G>ACA377292239DUSP29,KAT6Bc.3844G>A (p.Glu1282Lys)
c.3295G>A (p.Glu1099Lys)
c.2968G>A (p.Glu990Lys)
c.2779G>A (p.Glu927Lys)
n.577-2074C>T
c.*3622-2074C>T (n.*3622-2074C>T)
c.3682G>A (p.Glu1228Lys)
c.2806G>A (p.Glu936Lys)
c.2155G>A (p.Glu719Lys)
c.1759G>A (p.Glu587Lys)
c.1501G>A (p.Glu501Lys)
10g.75028668G>CCA377292242DUSP29,KAT6Bc.3844G>C (p.Glu1282Gln)
c.3295G>C (p.Glu1099Gln)
c.2968G>C (p.Glu990Gln)
c.2779G>C (p.Glu927Gln)
n.577-2074C>G
c.*3622-2074C>G (n.*3622-2074C>G)
c.3682G>C (p.Glu1228Gln)
c.2806G>C (p.Glu936Gln)
c.2155G>C (p.Glu719Gln)
c.1759G>C (p.Glu587Gln)
c.1501G>C (p.Glu501Gln)
10g.75028668G>TCA377292245DUSP29,KAT6Bc.3844G>T (p.Glu1282Ter)
c.3295G>T (p.Glu1099Ter)
c.2968G>T (p.Glu990Ter)
c.2779G>T (p.Glu927Ter)
n.577-2074C>A
c.*3622-2074C>A (n.*3622-2074C>A)
c.3682G>T (p.Glu1228Ter)
c.2806G>T (p.Glu936Ter)
c.2155G>T (p.Glu719Ter)
c.1759G>T (p.Glu587Ter)
c.1501G>T (p.Glu501Ter)
 COSMIC
10g.75028669A>CCA377292249DUSP29,KAT6Bc.3845A>C (p.Glu1282Ala)
c.3296A>C (p.Glu1099Ala)
c.2969A>C (p.Glu990Ala)
c.2780A>C (p.Glu927Ala)
n.577-2075T>G
c.*3622-2075T>G (n.*3622-2075T>G)
c.3683A>C (p.Glu1228Ala)
c.2807A>C (p.Glu936Ala)
c.2156A>C (p.Glu719Ala)
c.1760A>C (p.Glu587Ala)
c.1502A>C (p.Glu501Ala)
10g.75028669A>GCA377292250DUSP29,KAT6Bc.3845A>G (p.Glu1282Gly)
c.3296A>G (p.Glu1099Gly)
c.2969A>G (p.Glu990Gly)
c.2780A>G (p.Glu927Gly)
n.577-2075T>C
c.*3622-2075T>C (n.*3622-2075T>C)
c.3683A>G (p.Glu1228Gly)
c.2807A>G (p.Glu936Gly)
c.2156A>G (p.Glu719Gly)
c.1760A>G (p.Glu587Gly)
c.1502A>G (p.Glu501Gly)
10g.75028669A>TCA377292254DUSP29,KAT6Bc.3845A>T (p.Glu1282Val)
c.3296A>T (p.Glu1099Val)
c.2969A>T (p.Glu990Val)
c.2780A>T (p.Glu927Val)
n.577-2075T>A
c.*3622-2075T>A (n.*3622-2075T>A)
c.3683A>T (p.Glu1228Val)
c.2807A>T (p.Glu936Val)
c.2156A>T (p.Glu719Val)
c.1760A>T (p.Glu587Val)
c.1502A>T (p.Glu501Val)
10g.75028670G>ACA209709182DUSP29,KAT6Bc.3846G>A (p.Glu1282=)
c.3297G>A (p.Glu1099=)
c.2970G>A (p.Glu990=)
c.2781G>A (p.Glu927=)
n.577-2076C>T
c.*3622-2076C>T (n.*3622-2076C>T)
c.3684G>A (p.Glu1228=)
c.2808G>A (p.Glu936=)
c.2157G>A (p.Glu719=)
c.1761G>A (p.Glu587=)
c.1503G>A (p.Glu501=)
 dbSNP gnomAD v4
10g.75028670G>CCA377292259DUSP29,KAT6Bc.3846G>C (p.Glu1282Asp)
c.3297G>C (p.Glu1099Asp)
c.2970G>C (p.Glu990Asp)
c.2781G>C (p.Glu927Asp)
n.577-2076C>G
c.*3622-2076C>G (n.*3622-2076C>G)
c.3684G>C (p.Glu1228Asp)
c.2808G>C (p.Glu936Asp)
c.2157G>C (p.Glu719Asp)
c.1761G>C (p.Glu587Asp)
c.1503G>C (p.Glu501Asp)
10g.75028670G=CA1920306423DUSP29,KAT6Bc.3846G= (p.Glu1282=)
c.3297G= (p.Glu1099=)
c.2970G= (p.Glu990=)
c.2781G= (p.Glu927=)
n.577-2076C=
c.*3622-2076C= (n.*3622-2076C=)
c.3684G= (p.Glu1228=)
c.2808G= (p.Glu936=)
c.2157G= (p.Glu719=)
c.1761G= (p.Glu587=)
c.1503G= (p.Glu501=)
10g.75028670G>TCA377292263DUSP29,KAT6Bc.3846G>T (p.Glu1282Asp)
c.3297G>T (p.Glu1099Asp)
c.2970G>T (p.Glu990Asp)
c.2781G>T (p.Glu927Asp)
n.577-2076C>A
c.*3622-2076C>A (n.*3622-2076C>A)
c.3684G>T (p.Glu1228Asp)
c.2808G>T (p.Glu936Asp)
c.2157G>T (p.Glu719Asp)
c.1761G>T (p.Glu587Asp)
c.1503G>T (p.Glu501Asp)
10g.75028671C>ACA377292266DUSP29,KAT6Bc.3847C>A (p.Pro1283Thr)
c.3298C>A (p.Pro1100Thr)
c.2971C>A (p.Pro991Thr)
c.2782C>A (p.Pro928Thr)
n.577-2077G>T
c.*3622-2077G>T (n.*3622-2077G>T)
c.3685C>A (p.Pro1229Thr)
c.2809C>A (p.Pro937Thr)
c.2158C>A (p.Pro720Thr)
c.1762C>A (p.Pro588Thr)
c.1504C>A (p.Pro502Thr)
 dbSNP gnomAD v4
10g.75028671C=CA1920306424DUSP29,KAT6Bc.3847C= (p.Pro1283=)
c.3298C= (p.Pro1100=)
c.2971C= (p.Pro991=)
c.2782C= (p.Pro928=)
n.577-2077G=
c.*3622-2077G= (n.*3622-2077G=)
c.3685C= (p.Pro1229=)
c.2809C= (p.Pro937=)
c.2158C= (p.Pro720=)
c.1762C= (p.Pro588=)
c.1504C= (p.Pro502=)
10g.75028671C>GCA5564916DUSP29,KAT6Bc.3847C>G (p.Pro1283Ala)
c.3298C>G (p.Pro1100Ala)
c.2971C>G (p.Pro991Ala)
c.2782C>G (p.Pro928Ala)
n.577-2077G>C
c.*3622-2077G>C (n.*3622-2077G>C)
c.3685C>G (p.Pro1229Ala)
c.2809C>G (p.Pro937Ala)
c.2158C>G (p.Pro720Ala)
c.1762C>G (p.Pro588Ala)
c.1504C>G (p.Pro502Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.75028671C>TCA377292270DUSP29,KAT6Bc.3847C>T (p.Pro1283Ser)
c.3298C>T (p.Pro1100Ser)
c.2971C>T (p.Pro991Ser)
c.2782C>T (p.Pro928Ser)
n.577-2077G>A
c.*3622-2077G>A (n.*3622-2077G>A)
c.3685C>T (p.Pro1229Ser)
c.2809C>T (p.Pro937Ser)
c.2158C>T (p.Pro720Ser)
c.1762C>T (p.Pro588Ser)
c.1504C>T (p.Pro502Ser)
10g.75028672C>ACA377292276DUSP29,KAT6Bc.3848C>A (p.Pro1283His)
c.3299C>A (p.Pro1100His)
c.2972C>A (p.Pro991His)
c.2783C>A (p.Pro928His)
n.577-2078G>T
c.*3622-2078G>T (n.*3622-2078G>T)
c.3686C>A (p.Pro1229His)
c.2810C>A (p.Pro937His)
c.2159C>A (p.Pro720His)
c.1763C>A (p.Pro588His)
c.1505C>A (p.Pro502His)
10g.75028672C>GCA377292279DUSP29,KAT6Bc.3848C>G (p.Pro1283Arg)
c.3299C>G (p.Pro1100Arg)
c.2972C>G (p.Pro991Arg)
c.2783C>G (p.Pro928Arg)
n.577-2078G>C
c.*3622-2078G>C (n.*3622-2078G>C)
c.3686C>G (p.Pro1229Arg)
c.2810C>G (p.Pro937Arg)
c.2159C>G (p.Pro720Arg)
c.1763C>G (p.Pro588Arg)
c.1505C>G (p.Pro502Arg)
10g.75028672C>TCA377292273DUSP29,KAT6Bc.3848C>T (p.Pro1283Leu)
c.3299C>T (p.Pro1100Leu)
c.2972C>T (p.Pro991Leu)
c.2783C>T (p.Pro928Leu)
n.577-2078G>A
c.*3622-2078G>A (n.*3622-2078G>A)
c.3686C>T (p.Pro1229Leu)
c.2810C>T (p.Pro937Leu)
c.2159C>T (p.Pro720Leu)
c.1763C>T (p.Pro588Leu)
c.1505C>T (p.Pro502Leu)
10g.75028673T>ACA470299562DUSP29,KAT6Bc.3849T>A (p.Pro1283=)
c.3300T>A (p.Pro1100=)
c.2973T>A (p.Pro991=)
c.2784T>A (p.Pro928=)
n.577-2079A>T
c.*3622-2079A>T (n.*3622-2079A>T)
c.3687T>A (p.Pro1229=)
c.2811T>A (p.Pro937=)
c.2160T>A (p.Pro720=)
c.1764T>A (p.Pro588=)
c.1506T>A (p.Pro502=)
10g.75028673T>CCA470299561DUSP29,KAT6Bc.3849T>C (p.Pro1283=)
c.3300T>C (p.Pro1100=)
c.2973T>C (p.Pro991=)
c.2784T>C (p.Pro928=)
n.577-2079A>G
c.*3622-2079A>G (n.*3622-2079A>G)
c.3687T>C (p.Pro1229=)
c.2811T>C (p.Pro937=)
c.2160T>C (p.Pro720=)
c.1764T>C (p.Pro588=)
c.1506T>C (p.Pro502=)
10g.75028673T>GCA470299560DUSP29,KAT6Bc.3849T>G (p.Pro1283=)
c.3300T>G (p.Pro1100=)
c.2973T>G (p.Pro991=)
c.2784T>G (p.Pro928=)
n.577-2079A>C
c.*3622-2079A>C (n.*3622-2079A>C)
c.3687T>G (p.Pro1229=)
c.2811T>G (p.Pro937=)
c.2160T>G (p.Pro720=)
c.1764T>G (p.Pro588=)
c.1506T>G (p.Pro502=)
10g.75028673_75028681delinsTGACGAGCACA1920306425DUSP29,KAT6Bc.3849_3857delinsTGACGAGCA (p.Pro1283=)
c.3300_3308delinsTGACGAGCA (p.Pro1100=)
c.2973_2981delinsTGACGAGCA (p.Pro991=)
c.2784_2792delinsTGACGAGCA (p.Pro928=)
n.577-2087_577-2079delinsTGCTCGTCA
c.*3622-2087_*3622-2079delinsTGCTCGTCA (n.*3622-2087_*3622-2079delinsTGCTCGTCA)
c.3687_3695delinsTGACGAGCA (p.Pro1229=)
c.2811_2819delinsTGACGAGCA (p.Pro937=)
c.2160_2168delinsTGACGAGCA (p.Pro720=)
c.1764_1772delinsTGACGAGCA (p.Pro588=)
c.1506_1514delinsTGACGAGCA (p.Pro502=)
10g.75028674G>ACA377292282DUSP29,KAT6Bc.3850G>A (p.Asp1284Asn)
c.3301G>A (p.Asp1101Asn)
c.2974G>A (p.Asp992Asn)
c.2785G>A (p.Asp929Asn)
n.577-2080C>T
c.*3622-2080C>T (n.*3622-2080C>T)
c.3688G>A (p.Asp1230Asn)
c.2812G>A (p.Asp938Asn)
c.2161G>A (p.Asp721Asn)
c.1765G>A (p.Asp589Asn)
c.1507G>A (p.Asp503Asn)
10g.75028674G>CCA377292286DUSP29,KAT6Bc.3850G>C (p.Asp1284His)
c.3301G>C (p.Asp1101His)
c.2974G>C (p.Asp992His)
c.2785G>C (p.Asp929His)
n.577-2080C>G
c.*3622-2080C>G (n.*3622-2080C>G)
c.3688G>C (p.Asp1230His)
c.2812G>C (p.Asp938His)
c.2161G>C (p.Asp721His)
c.1765G>C (p.Asp589His)
c.1507G>C (p.Asp503His)
10g.75028674G>TCA377292288DUSP29,KAT6Bc.3850G>T (p.Asp1284Tyr)
c.3301G>T (p.Asp1101Tyr)
c.2974G>T (p.Asp992Tyr)
c.2785G>T (p.Asp929Tyr)
n.577-2080C>A
c.*3622-2080C>A (n.*3622-2080C>A)
c.3688G>T (p.Asp1230Tyr)
c.2812G>T (p.Asp938Tyr)
c.2161G>T (p.Asp721Tyr)
c.1765G>T (p.Asp589Tyr)
c.1507G>T (p.Asp503Tyr)
 gnomAD v4
10g.75028675_75028682delCA658797448DUSP29,KAT6Bc.3851_3858del (p.Asp1284GlyfsTer22)
c.3302_3309del (p.Asp1101GlyfsTer22)
c.2975_2982del (p.Asp992GlyfsTer22)
c.2786_2793del (p.Asp929GlyfsTer22)
n.577-2087_577-2080del
c.*3622-2087_*3622-2080del (n.*3622-2087_*3622-2080del)
c.3689_3696del (p.Asp1230GlyfsTer22)
c.2813_2820del (p.Asp938GlyfsTer22)
c.2162_2169del (p.Asp721GlyfsTer22)
c.1766_1773del (p.Asp589GlyfsTer22)
c.1508_1515del (p.Asp503GlyfsTer22)
 ClinVar dbSNP
10g.75028675A>CCA377292292DUSP29,KAT6Bc.3851A>C (p.Asp1284Ala)
c.3302A>C (p.Asp1101Ala)
c.2975A>C (p.Asp992Ala)
c.2786A>C (p.Asp929Ala)
n.577-2081T>G
c.*3622-2081T>G (n.*3622-2081T>G)
c.3689A>C (p.Asp1230Ala)
c.2813A>C (p.Asp938Ala)
c.2162A>C (p.Asp721Ala)
c.1766A>C (p.Asp589Ala)
c.1508A>C (p.Asp503Ala)
10g.75028675A>GCA377292295DUSP29,KAT6Bc.3851A>G (p.Asp1284Gly)
c.3302A>G (p.Asp1101Gly)
c.2975A>G (p.Asp992Gly)
c.2786A>G (p.Asp929Gly)
n.577-2081T>C
c.*3622-2081T>C (n.*3622-2081T>C)
c.3689A>G (p.Asp1230Gly)
c.2813A>G (p.Asp938Gly)
c.2162A>G (p.Asp721Gly)
c.1766A>G (p.Asp589Gly)
c.1508A>G (p.Asp503Gly)
10g.75028675A>TCA377292297DUSP29,KAT6Bc.3851A>T (p.Asp1284Val)
c.3302A>T (p.Asp1101Val)
c.2975A>T (p.Asp992Val)
c.2786A>T (p.Asp929Val)
n.577-2081T>A
c.*3622-2081T>A (n.*3622-2081T>A)
c.3689A>T (p.Asp1230Val)
c.2813A>T (p.Asp938Val)
c.2162A>T (p.Asp721Val)
c.1766A>T (p.Asp589Val)
c.1508A>T (p.Asp503Val)
 gnomAD v4
10g.75028676_75028688delCA2830782715DUSP29,KAT6Bc.3852_3864del (p.Asp1284GlufsTer?)
c.3303_3315del (p.Asp1101GlufsTer?)
c.2976_2988del (p.Asp992GlufsTer?)
c.2787_2799del (p.Asp929GlufsTer?)
n.577-2093_577-2081del
c.*3622-2093_*3622-2081del (n.*3622-2093_*3622-2081del)
c.3690_3702del (p.Asp1230GlufsTer?)
c.2814_2826del (p.Asp938GlufsTer?)
c.2163_2175del (p.Asp721GlufsTer?)
c.1767_1779del (p.Asp589GlufsTer?)
c.1509_1521del (p.Asp503GlufsTer?)
10g.75028676C>ACA377292301DUSP29,KAT6Bc.3852C>A (p.Asp1284Glu)
c.3303C>A (p.Asp1101Glu)
c.2976C>A (p.Asp992Glu)
c.2787C>A (p.Asp929Glu)
n.577-2082G>T
c.*3622-2082G>T (n.*3622-2082G>T)
c.3690C>A (p.Asp1230Glu)
c.2814C>A (p.Asp938Glu)
c.2163C>A (p.Asp721Glu)
c.1767C>A (p.Asp589Glu)
c.1509C>A (p.Asp503Glu)
10g.75028676C=CA1920306426DUSP29,KAT6Bc.3852C= (p.Asp1284=)
c.3303C= (p.Asp1101=)
c.2976C= (p.Asp992=)
c.2787C= (p.Asp929=)
n.577-2082G=
c.*3622-2082G= (n.*3622-2082G=)
c.3690C= (p.Asp1230=)
c.2814C= (p.Asp938=)
c.2163C= (p.Asp721=)
c.1767C= (p.Asp589=)
c.1509C= (p.Asp503=)
10g.75028676C>GCA377292304DUSP29,KAT6Bc.3852C>G (p.Asp1284Glu)
c.3303C>G (p.Asp1101Glu)
c.2976C>G (p.Asp992Glu)
c.2787C>G (p.Asp929Glu)
n.577-2082G>C
c.*3622-2082G>C (n.*3622-2082G>C)
c.3690C>G (p.Asp1230Glu)
c.2814C>G (p.Asp938Glu)
c.2163C>G (p.Asp721Glu)
c.1767C>G (p.Asp589Glu)
c.1509C>G (p.Asp503Glu)
 gnomAD v4
10g.75028676C>TCA5564917DUSP29,KAT6Bc.3852C>T (p.Asp1284=)
c.3303C>T (p.Asp1101=)
c.2976C>T (p.Asp992=)
c.2787C>T (p.Asp929=)
n.577-2082G>A
c.*3622-2082G>A (n.*3622-2082G>A)
c.3690C>T (p.Asp1230=)
c.2814C>T (p.Asp938=)
c.2163C>T (p.Asp721=)
c.1767C>T (p.Asp589=)
c.1509C>T (p.Asp503=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.75028677G>ACA377292308DUSP29,KAT6Bc.3853G>A (p.Glu1285Lys)
c.3304G>A (p.Glu1102Lys)
c.2977G>A (p.Glu993Lys)
c.2788G>A (p.Glu930Lys)
n.577-2083C>T
c.*3622-2083C>T (n.*3622-2083C>T)
c.3691G>A (p.Glu1231Lys)
c.2815G>A (p.Glu939Lys)
c.2164G>A (p.Glu722Lys)
c.1768G>A (p.Glu590Lys)
c.1510G>A (p.Glu504Lys)
 dbSNP gnomAD v2 gnomAD v4
10g.75028677G>CCA377292310DUSP29,KAT6Bc.3853G>C (p.Glu1285Gln)
c.3304G>C (p.Glu1102Gln)
c.2977G>C (p.Glu993Gln)
c.2788G>C (p.Glu930Gln)
n.577-2083C>G
c.*3622-2083C>G (n.*3622-2083C>G)
c.3691G>C (p.Glu1231Gln)
c.2815G>C (p.Glu939Gln)
c.2164G>C (p.Glu722Gln)
c.1768G>C (p.Glu590Gln)
c.1510G>C (p.Glu504Gln)
10g.75028677G=CA1920306427DUSP29,KAT6Bc.3853G= (p.Glu1285=)
c.3304G= (p.Glu1102=)
c.2977G= (p.Glu993=)
c.2788G= (p.Glu930=)
n.577-2083C=
c.*3622-2083C= (n.*3622-2083C=)
c.3691G= (p.Glu1231=)
c.2815G= (p.Glu939=)
c.2164G= (p.Glu722=)
c.1768G= (p.Glu590=)
c.1510G= (p.Glu504=)
10g.75028677G>TCA377292312DUSP29,KAT6Bc.3853G>T (p.Glu1285Ter)
c.3304G>T (p.Glu1102Ter)
c.2977G>T (p.Glu993Ter)
c.2788G>T (p.Glu930Ter)
n.577-2083C>A
c.*3622-2083C>A (n.*3622-2083C>A)
c.3691G>T (p.Glu1231Ter)
c.2815G>T (p.Glu939Ter)
c.2164G>T (p.Glu722Ter)
c.1768G>T (p.Glu590Ter)
c.1510G>T (p.Glu504Ter)
10g.75028678A>CCA377292320DUSP29,KAT6Bc.3854A>C (p.Glu1285Ala)
c.3305A>C (p.Glu1102Ala)
c.2978A>C (p.Glu993Ala)
c.2789A>C (p.Glu930Ala)
n.577-2084T>G
c.*3622-2084T>G (n.*3622-2084T>G)
c.3692A>C (p.Glu1231Ala)
c.2816A>C (p.Glu939Ala)
c.2165A>C (p.Glu722Ala)
c.1769A>C (p.Glu590Ala)
c.1511A>C (p.Glu504Ala)
10g.75028678A>GCA377292322DUSP29,KAT6Bc.3854A>G (p.Glu1285Gly)
c.3305A>G (p.Glu1102Gly)
c.2978A>G (p.Glu993Gly)
c.2789A>G (p.Glu930Gly)
n.577-2084T>C
c.*3622-2084T>C (n.*3622-2084T>C)
c.3692A>G (p.Glu1231Gly)
c.2816A>G (p.Glu939Gly)
c.2165A>G (p.Glu722Gly)
c.1769A>G (p.Glu590Gly)
c.1511A>G (p.Glu504Gly)
10g.75028678A>TCA377292318DUSP29,KAT6Bc.3854A>T (p.Glu1285Val)
c.3305A>T (p.Glu1102Val)
c.2978A>T (p.Glu993Val)
c.2789A>T (p.Glu930Val)
n.577-2084T>A
c.*3622-2084T>A (n.*3622-2084T>A)
c.3692A>T (p.Glu1231Val)
c.2816A>T (p.Glu939Val)
c.2165A>T (p.Glu722Val)
c.1769A>T (p.Glu590Val)
c.1511A>T (p.Glu504Val)
10g.75028679G>ACA5564918DUSP29,KAT6Bc.3855G>A (p.Glu1285=)
c.3306G>A (p.Glu1102=)
c.2979G>A (p.Glu993=)
c.2790G>A (p.Glu930=)
n.577-2085C>T
c.*3622-2085C>T (n.*3622-2085C>T)
c.3693G>A (p.Glu1231=)
c.2817G>A (p.Glu939=)
c.2166G>A (p.Glu722=)
c.1770G>A (p.Glu590=)
c.1512G>A (p.Glu504=)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.75028679G>CCA377292325DUSP29,KAT6Bc.3855G>C (p.Glu1285Asp)
c.3306G>C (p.Glu1102Asp)
c.2979G>C (p.Glu993Asp)
c.2790G>C (p.Glu930Asp)
n.577-2085C>G
c.*3622-2085C>G (n.*3622-2085C>G)
c.3693G>C (p.Glu1231Asp)
c.2817G>C (p.Glu939Asp)
c.2166G>C (p.Glu722Asp)
c.1770G>C (p.Glu590Asp)
c.1512G>C (p.Glu504Asp)
10g.75028679G=CA1920306428DUSP29,KAT6Bc.3855G= (p.Glu1285=)
c.3306G= (p.Glu1102=)
c.2979G= (p.Glu993=)
c.2790G= (p.Glu930=)
n.577-2085C=
c.*3622-2085C= (n.*3622-2085C=)
c.3693G= (p.Glu1231=)
c.2817G= (p.Glu939=)
c.2166G= (p.Glu722=)
c.1770G= (p.Glu590=)
c.1512G= (p.Glu504=)
10g.75028679G>TCA377292327DUSP29,KAT6Bc.3855G>T (p.Glu1285Asp)
c.3306G>T (p.Glu1102Asp)
c.2979G>T (p.Glu993Asp)
c.2790G>T (p.Glu930Asp)
n.577-2085C>A
c.*3622-2085C>A (n.*3622-2085C>A)
c.3693G>T (p.Glu1231Asp)
c.2817G>T (p.Glu939Asp)
c.2166G>T (p.Glu722Asp)
c.1770G>T (p.Glu590Asp)
c.1512G>T (p.Glu504Asp)
 ClinVar gnomAD v4
10g.75028680C>ACA377292330DUSP29,KAT6Bc.3856C>A (p.Gln1286Lys)
c.3307C>A (p.Gln1103Lys)
c.2980C>A (p.Gln994Lys)
c.2791C>A (p.Gln931Lys)
n.577-2086G>T
c.*3622-2086G>T (n.*3622-2086G>T)
c.3694C>A (p.Gln1232Lys)
c.2818C>A (p.Gln940Lys)
c.2167C>A (p.Gln723Lys)
c.1771C>A (p.Gln591Lys)
c.1513C>A (p.Gln505Lys)
10g.75028680C>GCA377292334DUSP29,KAT6Bc.3856C>G (p.Gln1286Glu)
c.3307C>G (p.Gln1103Glu)
c.2980C>G (p.Gln994Glu)
c.2791C>G (p.Gln931Glu)
n.577-2086G>C
c.*3622-2086G>C (n.*3622-2086G>C)
c.3694C>G (p.Gln1232Glu)
c.2818C>G (p.Gln940Glu)
c.2167C>G (p.Gln723Glu)
c.1771C>G (p.Gln591Glu)
c.1513C>G (p.Gln505Glu)
10g.75028680C>TCA377292337DUSP29,KAT6Bc.3856C>T (p.Gln1286Ter)
c.3307C>T (p.Gln1103Ter)
c.2980C>T (p.Gln994Ter)
c.2791C>T (p.Gln931Ter)
n.577-2086G>A
c.*3622-2086G>A (n.*3622-2086G>A)
c.3694C>T (p.Gln1232Ter)
c.2818C>T (p.Gln940Ter)
c.2167C>T (p.Gln723Ter)
c.1771C>T (p.Gln591Ter)
c.1513C>T (p.Gln505Ter)
 ClinVar
10g.75028681delCA2573053306DUSP29,KAT6Bc.3857del (p.Gln1286ArgfsTer2)
c.3308del (p.Gln1103ArgfsTer2)
c.2981del (p.Gln994ArgfsTer2)
c.2792del (p.Gln931ArgfsTer2)
n.577-2087del
c.*3622-2087del (n.*3622-2087del)
c.3695del (p.Gln1232ArgfsTer2)
c.2819del (p.Gln940ArgfsTer2)
c.2168del (p.Gln723ArgfsTer2)
c.1772del (p.Gln591ArgfsTer2)
c.1514del (p.Gln505ArgfsTer2)
 ClinVar dbSNP
10g.75028681A>CCA377292341DUSP29,KAT6Bc.3857A>C (p.Gln1286Pro)
c.3308A>C (p.Gln1103Pro)
c.2981A>C (p.Gln994Pro)
c.2792A>C (p.Gln931Pro)
n.577-2087T>G
c.*3622-2087T>G (n.*3622-2087T>G)
c.3695A>C (p.Gln1232Pro)
c.2819A>C (p.Gln940Pro)
c.2168A>C (p.Gln723Pro)
c.1772A>C (p.Gln591Pro)
c.1514A>C (p.Gln505Pro)
10g.75028681A>GCA377292346DUSP29,KAT6Bc.3857A>G (p.Gln1286Arg)
c.3308A>G (p.Gln1103Arg)
c.2981A>G (p.Gln994Arg)
c.2792A>G (p.Gln931Arg)
n.577-2087T>C
c.*3622-2087T>C (n.*3622-2087T>C)
c.3695A>G (p.Gln1232Arg)
c.2819A>G (p.Gln940Arg)
c.2168A>G (p.Gln723Arg)
c.1772A>G (p.Gln591Arg)
c.1514A>G (p.Gln505Arg)
10g.75028681A>TCA377292344DUSP29,KAT6Bc.3857A>T (p.Gln1286Leu)
c.3308A>T (p.Gln1103Leu)
c.2981A>T (p.Gln994Leu)
c.2792A>T (p.Gln931Leu)
n.577-2087T>A
c.*3622-2087T>A (n.*3622-2087T>A)
c.3695A>T (p.Gln1232Leu)
c.2819A>T (p.Gln940Leu)
c.2168A>T (p.Gln723Leu)
c.1772A>T (p.Gln591Leu)
c.1514A>T (p.Gln505Leu)
10g.75028682G>ACA470299563DUSP29,KAT6Bc.3858G>A (p.Gln1286=)
c.3309G>A (p.Gln1103=)
c.2982G>A (p.Gln994=)
c.2793G>A (p.Gln931=)
n.577-2088C>T
c.*3622-2088C>T (n.*3622-2088C>T)
c.3696G>A (p.Gln1232=)
c.2820G>A (p.Gln940=)
c.2169G>A (p.Gln723=)
c.1773G>A (p.Gln591=)
c.1515G>A (p.Gln505=)
 gnomAD v4
10g.75028682G>CCA377292350DUSP29,KAT6Bc.3858G>C (p.Gln1286His)
c.3309G>C (p.Gln1103His)
c.2982G>C (p.Gln994His)
c.2793G>C (p.Gln931His)
n.577-2088C>G
c.*3622-2088C>G (n.*3622-2088C>G)
c.3696G>C (p.Gln1232His)
c.2820G>C (p.Gln940His)
c.2169G>C (p.Gln723His)
c.1773G>C (p.Gln591His)
c.1515G>C (p.Gln505His)
10g.75028682G>TCA377292353DUSP29,KAT6Bc.3858G>T (p.Gln1286His)
c.3309G>T (p.Gln1103His)
c.2982G>T (p.Gln994His)
c.2793G>T (p.Gln931His)
n.577-2088C>A
c.*3622-2088C>A (n.*3622-2088C>A)
c.3696G>T (p.Gln1232His)
c.2820G>T (p.Gln940His)
c.2169G>T (p.Gln723His)
c.1773G>T (p.Gln591His)
c.1515G>T (p.Gln505His)
10g.75028683G>ACA377292357DUSP29,KAT6Bc.3859G>A (p.Val1287Ile)
c.3310G>A (p.Val1104Ile)
c.2983G>A (p.Val995Ile)
c.2794G>A (p.Val932Ile)
n.577-2089C>T
c.*3622-2089C>T (n.*3622-2089C>T)
c.3697G>A (p.Val1233Ile)
c.2821G>A (p.Val941Ile)
c.2170G>A (p.Val724Ile)
c.1774G>A (p.Val592Ile)
c.1516G>A (p.Val506Ile)
 gnomAD v4
10g.75028683G>CCA377292360DUSP29,KAT6Bc.3859G>C (p.Val1287Leu)
c.3310G>C (p.Val1104Leu)
c.2983G>C (p.Val995Leu)
c.2794G>C (p.Val932Leu)
n.577-2089C>G
c.*3622-2089C>G (n.*3622-2089C>G)
c.3697G>C (p.Val1233Leu)
c.2821G>C (p.Val941Leu)
c.2170G>C (p.Val724Leu)
c.1774G>C (p.Val592Leu)
c.1516G>C (p.Val506Leu)
10g.75028683G>TCA377292362DUSP29,KAT6Bc.3859G>T (p.Val1287Leu)
c.3310G>T (p.Val1104Leu)
c.2983G>T (p.Val995Leu)
c.2794G>T (p.Val932Leu)
n.577-2089C>A
c.*3622-2089C>A (n.*3622-2089C>A)
c.3697G>T (p.Val1233Leu)
c.2821G>T (p.Val941Leu)
c.2170G>T (p.Val724Leu)
c.1774G>T (p.Val592Leu)
c.1516G>T (p.Val506Leu)
10g.75028684T>ACA377292370DUSP29,KAT6Bc.3860T>A (p.Val1287Glu)
c.3311T>A (p.Val1104Glu)
c.2984T>A (p.Val995Glu)
c.2795T>A (p.Val932Glu)
n.577-2090A>T
c.*3622-2090A>T (n.*3622-2090A>T)
c.3698T>A (p.Val1233Glu)
c.2822T>A (p.Val941Glu)
c.2171T>A (p.Val724Glu)
c.1775T>A (p.Val592Glu)
c.1517T>A (p.Val506Glu)
10g.75028684T>CCA377292372DUSP29,KAT6Bc.3860T>C (p.Val1287Ala)
c.3311T>C (p.Val1104Ala)
c.2984T>C (p.Val995Ala)
c.2795T>C (p.Val932Ala)
n.577-2090A>G
c.*3622-2090A>G (n.*3622-2090A>G)
c.3698T>C (p.Val1233Ala)
c.2822T>C (p.Val941Ala)
c.2171T>C (p.Val724Ala)
c.1775T>C (p.Val592Ala)
c.1517T>C (p.Val506Ala)
10g.75028684T>GCA377292367DUSP29,KAT6Bc.3860T>G (p.Val1287Gly)
c.3311T>G (p.Val1104Gly)
c.2984T>G (p.Val995Gly)
c.2795T>G (p.Val932Gly)
n.577-2090A>C
c.*3622-2090A>C (n.*3622-2090A>C)
c.3698T>G (p.Val1233Gly)
c.2822T>G (p.Val941Gly)
c.2171T>G (p.Val724Gly)
c.1775T>G (p.Val592Gly)
c.1517T>G (p.Val506Gly)
10g.75028684_75028687delCA2695212198DUSP29,KAT6Bc.3860_3863del (p.Val1287GlufsTer?)
c.3311_3314del (p.Val1104GlufsTer?)
c.2984_2987del (p.Val995GlufsTer?)
c.2795_2798del (p.Val932GlufsTer?)
n.577-2093_577-2090del
c.*3622-2093_*3622-2090del (n.*3622-2093_*3622-2090del)
c.3698_3701del (p.Val1233GlufsTer?)
c.2822_2825del (p.Val941GlufsTer?)
c.2171_2174del (p.Val724GlufsTer?)
c.1775_1778del (p.Val592GlufsTer?)
c.1517_1520del (p.Val506GlufsTer?)
10g.75028685A>CCA470299566DUSP29,KAT6Bc.3861A>C (p.Val1287=)
c.3312A>C (p.Val1104=)
c.2985A>C (p.Val995=)
c.2796A>C (p.Val932=)
n.577-2091T>G
c.*3622-2091T>G (n.*3622-2091T>G)
c.3699A>C (p.Val1233=)
c.2823A>C (p.Val941=)
c.2172A>C (p.Val724=)
c.1776A>C (p.Val592=)
c.1518A>C (p.Val506=)
10g.75028685A>GCA470299565DUSP29,KAT6Bc.3861A>G (p.Val1287=)
c.3312A>G (p.Val1104=)
c.2985A>G (p.Val995=)
c.2796A>G (p.Val932=)
n.577-2091T>C
c.*3622-2091T>C (n.*3622-2091T>C)
c.3699A>G (p.Val1233=)
c.2823A>G (p.Val941=)
c.2172A>G (p.Val724=)
c.1776A>G (p.Val592=)
c.1518A>G (p.Val506=)
10g.75028685A>TCA470299564DUSP29,KAT6Bc.3861A>T (p.Val1287=)
c.3312A>T (p.Val1104=)
c.2985A>T (p.Val995=)
c.2796A>T (p.Val932=)
n.577-2091T>A
c.*3622-2091T>A (n.*3622-2091T>A)
c.3699A>T (p.Val1233=)
c.2823A>T (p.Val941=)
c.2172A>T (p.Val724=)
c.1776A>T (p.Val592=)
c.1518A>T (p.Val506=)
10g.75028686A>CCA377292377DUSP29,KAT6Bc.3862A>C (p.Thr1288Pro)
c.3313A>C (p.Thr1105Pro)
c.2986A>C (p.Thr996Pro)
c.2797A>C (p.Thr933Pro)
n.577-2092T>G
c.*3622-2092T>G (n.*3622-2092T>G)
c.3700A>C (p.Thr1234Pro)
c.2824A>C (p.Thr942Pro)
c.2173A>C (p.Thr725Pro)
c.1777A>C (p.Thr593Pro)
c.1519A>C (p.Thr507Pro)
10g.75028686A>GCA377292384DUSP29,KAT6Bc.3862A>G (p.Thr1288Ala)
c.3313A>G (p.Thr1105Ala)
c.2986A>G (p.Thr996Ala)
c.2797A>G (p.Thr933Ala)
n.577-2092T>C
c.*3622-2092T>C (n.*3622-2092T>C)
c.3700A>G (p.Thr1234Ala)
c.2824A>G (p.Thr942Ala)
c.2173A>G (p.Thr725Ala)
c.1777A>G (p.Thr593Ala)
c.1519A>G (p.Thr507Ala)
10g.75028686A>TCA377292380DUSP29,KAT6Bc.3862A>T (p.Thr1288Ser)
c.3313A>T (p.Thr1105Ser)
c.2986A>T (p.Thr996Ser)
c.2797A>T (p.Thr933Ser)
n.577-2092T>A
c.*3622-2092T>A (n.*3622-2092T>A)
c.3700A>T (p.Thr1234Ser)
c.2824A>T (p.Thr942Ser)
c.2173A>T (p.Thr725Ser)
c.1777A>T (p.Thr593Ser)
c.1519A>T (p.Thr507Ser)
10g.75028687C>ACA377292388DUSP29,KAT6Bc.3863C>A (p.Thr1288Lys)
c.3314C>A (p.Thr1105Lys)
c.2987C>A (p.Thr996Lys)
c.2798C>A (p.Thr933Lys)
n.577-2093G>T
c.*3622-2093G>T (n.*3622-2093G>T)
c.3701C>A (p.Thr1234Lys)
c.2825C>A (p.Thr942Lys)
c.2174C>A (p.Thr725Lys)
c.1778C>A (p.Thr593Lys)
c.1520C>A (p.Thr507Lys)
 gnomAD v4
10g.75028687C>GCA377292392DUSP29,KAT6Bc.3863C>G (p.Thr1288Arg)
c.3314C>G (p.Thr1105Arg)
c.2987C>G (p.Thr996Arg)
c.2798C>G (p.Thr933Arg)
n.577-2093G>C
c.*3622-2093G>C (n.*3622-2093G>C)
c.3701C>G (p.Thr1234Arg)
c.2825C>G (p.Thr942Arg)
c.2174C>G (p.Thr725Arg)
c.1778C>G (p.Thr593Arg)
c.1520C>G (p.Thr507Arg)
10g.75028687C>TCA377292390DUSP29,KAT6Bc.3863C>T (p.Thr1288Ile)
c.3314C>T (p.Thr1105Ile)
c.2987C>T (p.Thr996Ile)
c.2798C>T (p.Thr933Ile)
n.577-2093G>A
c.*3622-2093G>A (n.*3622-2093G>A)
c.3701C>T (p.Thr1234Ile)
c.2825C>T (p.Thr942Ile)
c.2174C>T (p.Thr725Ile)
c.1778C>T (p.Thr593Ile)
c.1520C>T (p.Thr507Ile)
 gnomAD v4
10g.75028688A>CCA470299567DUSP29,KAT6Bc.3864A>C (p.Thr1288=)
c.3315A>C (p.Thr1105=)
c.2988A>C (p.Thr996=)
c.2799A>C (p.Thr933=)
n.577-2094T>G
c.*3622-2094T>G (n.*3622-2094T>G)
c.3702A>C (p.Thr1234=)
c.2826A>C (p.Thr942=)
c.2175A>C (p.Thr725=)
c.1779A>C (p.Thr593=)
c.1521A>C (p.Thr507=)
10g.75028688A>GCA470299568DUSP29,KAT6Bc.3864A>G (p.Thr1288=)
c.3315A>G (p.Thr1105=)
c.2988A>G (p.Thr996=)
c.2799A>G (p.Thr933=)
n.577-2094T>C
c.*3622-2094T>C (n.*3622-2094T>C)
c.3702A>G (p.Thr1234=)
c.2826A>G (p.Thr942=)
c.2175A>G (p.Thr725=)
c.1779A>G (p.Thr593=)
c.1521A>G (p.Thr507=)
10g.75028688A>TCA470299569DUSP29,KAT6Bc.3864A>T (p.Thr1288=)
c.3315A>T (p.Thr1105=)
c.2988A>T (p.Thr996=)
c.2799A>T (p.Thr933=)
n.577-2094T>A
c.*3622-2094T>A (n.*3622-2094T>A)
c.3702A>T (p.Thr1234=)
c.2826A>T (p.Thr942=)
c.2175A>T (p.Thr725=)
c.1779A>T (p.Thr593=)
c.1521A>T (p.Thr507=)
 gnomAD v4
10g.75028689G>ACA377292397DUSP29,KAT6Bc.3865G>A (p.Val1289Met)
c.3316G>A (p.Val1106Met)
c.2989G>A (p.Val997Met)
c.2800G>A (p.Val934Met)
n.577-2095C>T
c.*3622-2095C>T (n.*3622-2095C>T)
c.3703G>A (p.Val1235Met)
c.2827G>A (p.Val943Met)
c.2176G>A (p.Val726Met)
c.1780G>A (p.Val594Met)
c.1522G>A (p.Val508Met)
 gnomAD v4
10g.75028689G>CCA377292399DUSP29,KAT6Bc.3865G>C (p.Val1289Leu)
c.3316G>C (p.Val1106Leu)
c.2989G>C (p.Val997Leu)
c.2800G>C (p.Val934Leu)
n.577-2095C>G
c.*3622-2095C>G (n.*3622-2095C>G)
c.3703G>C (p.Val1235Leu)
c.2827G>C (p.Val943Leu)
c.2176G>C (p.Val726Leu)
c.1780G>C (p.Val594Leu)
c.1522G>C (p.Val508Leu)
10g.75028689G>TCA377292401DUSP29,KAT6Bc.3865G>T (p.Val1289Leu)
c.3316G>T (p.Val1106Leu)
c.2989G>T (p.Val997Leu)
c.2800G>T (p.Val934Leu)
n.577-2095C>A
c.*3622-2095C>A (n.*3622-2095C>A)
c.3703G>T (p.Val1235Leu)
c.2827G>T (p.Val943Leu)
c.2176G>T (p.Val726Leu)
c.1780G>T (p.Val594Leu)
c.1522G>T (p.Val508Leu)
10g.75028690T>ACA377292403DUSP29,KAT6Bc.3866T>A (p.Val1289Glu)
c.3317T>A (p.Val1106Glu)
c.2990T>A (p.Val997Glu)
c.2801T>A (p.Val934Glu)
n.577-2096A>T
c.*3622-2096A>T (n.*3622-2096A>T)
c.3704T>A (p.Val1235Glu)
c.2828T>A (p.Val943Glu)
c.2177T>A (p.Val726Glu)
c.1781T>A (p.Val594Glu)
c.1523T>A (p.Val508Glu)
10g.75028690T>CCA377292407DUSP29,KAT6Bc.3866T>C (p.Val1289Ala)
c.3317T>C (p.Val1106Ala)
c.2990T>C (p.Val997Ala)
c.2801T>C (p.Val934Ala)
n.577-2096A>G
c.*3622-2096A>G (n.*3622-2096A>G)
c.3704T>C (p.Val1235Ala)
c.2828T>C (p.Val943Ala)
c.2177T>C (p.Val726Ala)
c.1781T>C (p.Val594Ala)
c.1523T>C (p.Val508Ala)
10g.75028690T>GCA377292409DUSP29,KAT6Bc.3866T>G (p.Val1289Gly)
c.3317T>G (p.Val1106Gly)
c.2990T>G (p.Val997Gly)
c.2801T>G (p.Val934Gly)
n.577-2096A>C
c.*3622-2096A>C (n.*3622-2096A>C)
c.3704T>G (p.Val1235Gly)
c.2828T>G (p.Val943Gly)
c.2177T>G (p.Val726Gly)
c.1781T>G (p.Val594Gly)
c.1523T>G (p.Val508Gly)
10g.75028691G>ACA470299570DUSP29,KAT6Bc.3867G>A (p.Val1289=)
c.3318G>A (p.Val1106=)
c.2991G>A (p.Val997=)
c.2802G>A (p.Val934=)
n.577-2097C>T
c.*3622-2097C>T (n.*3622-2097C>T)
c.3705G>A (p.Val1235=)
c.2829G>A (p.Val943=)
c.2178G>A (p.Val726=)
c.1782G>A (p.Val594=)
c.1524G>A (p.Val508=)
 gnomAD v4
10g.75028691G>CCA470299571DUSP29,KAT6Bc.3867G>C (p.Val1289=)
c.3318G>C (p.Val1106=)
c.2991G>C (p.Val997=)
c.2802G>C (p.Val934=)
n.577-2097C>G
c.*3622-2097C>G (n.*3622-2097C>G)
c.3705G>C (p.Val1235=)
c.2829G>C (p.Val943=)
c.2178G>C (p.Val726=)
c.1782G>C (p.Val594=)
c.1524G>C (p.Val508=)
10g.75028691G>TCA470299572DUSP29,KAT6Bc.3867G>T (p.Val1289=)
c.3318G>T (p.Val1106=)
c.2991G>T (p.Val997=)
c.2802G>T (p.Val934=)
n.577-2097C>A
c.*3622-2097C>A (n.*3622-2097C>A)
c.3705G>T (p.Val1235=)
c.2829G>T (p.Val943=)
c.2178G>T (p.Val726=)
c.1782G>T (p.Val594=)
c.1524G>T (p.Val508=)
10g.75028692G>ACA377292420DUSP29,KAT6Bc.3868G>A (p.Glu1290Lys)
c.3319G>A (p.Glu1107Lys)
c.2992G>A (p.Glu998Lys)
c.2803G>A (p.Glu935Lys)
n.577-2098C>T
c.*3622-2098C>T (n.*3622-2098C>T)
c.3706G>A (p.Glu1236Lys)
c.2830G>A (p.Glu944Lys)
c.2179G>A (p.Glu727Lys)
c.1783G>A (p.Glu595Lys)
c.1525G>A (p.Glu509Lys)
10g.75028692G>CCA377292414DUSP29,KAT6Bc.3868G>C (p.Glu1290Gln)
c.3319G>C (p.Glu1107Gln)
c.2992G>C (p.Glu998Gln)
c.2803G>C (p.Glu935Gln)
n.577-2098C>G
c.*3622-2098C>G (n.*3622-2098C>G)
c.3706G>C (p.Glu1236Gln)
c.2830G>C (p.Glu944Gln)
c.2179G>C (p.Glu727Gln)
c.1783G>C (p.Glu595Gln)
c.1525G>C (p.Glu509Gln)
10g.75028692G>TCA377292417DUSP29,KAT6Bc.3868G>T (p.Glu1290Ter)
c.3319G>T (p.Glu1107Ter)
c.2992G>T (p.Glu998Ter)
c.2803G>T (p.Glu935Ter)
n.577-2098C>A
c.*3622-2098C>A (n.*3622-2098C>A)
c.3706G>T (p.Glu1236Ter)
c.2830G>T (p.Glu944Ter)
c.2179G>T (p.Glu727Ter)
c.1783G>T (p.Glu595Ter)
c.1525G>T (p.Glu509Ter)
10g.75028693A>CCA377292424DUSP29,KAT6Bc.3869A>C (p.Glu1290Ala)
c.3320A>C (p.Glu1107Ala)
c.2993A>C (p.Glu998Ala)
c.2804A>C (p.Glu935Ala)
n.577-2099T>G
c.*3622-2099T>G (n.*3622-2099T>G)
c.3707A>C (p.Glu1236Ala)
c.2831A>C (p.Glu944Ala)
c.2180A>C (p.Glu727Ala)
c.1784A>C (p.Glu595Ala)
c.1526A>C (p.Glu509Ala)
10g.75028693A>GCA377292426DUSP29,KAT6Bc.3869A>G (p.Glu1290Gly)
c.3320A>G (p.Glu1107Gly)
c.2993A>G (p.Glu998Gly)
c.2804A>G (p.Glu935Gly)
n.577-2099T>C
c.*3622-2099T>C (n.*3622-2099T>C)
c.3707A>G (p.Glu1236Gly)
c.2831A>G (p.Glu944Gly)
c.2180A>G (p.Glu727Gly)
c.1784A>G (p.Glu595Gly)
c.1526A>G (p.Glu509Gly)
10g.75028693A>TCA377292431DUSP29,KAT6Bc.3869A>T (p.Glu1290Val)
c.3320A>T (p.Glu1107Val)
c.2993A>T (p.Glu998Val)
c.2804A>T (p.Glu935Val)
n.577-2099T>A
c.*3622-2099T>A (n.*3622-2099T>A)
c.3707A>T (p.Glu1236Val)
c.2831A>T (p.Glu944Val)
c.2180A>T (p.Glu727Val)
c.1784A>T (p.Glu595Val)
c.1526A>T (p.Glu509Val)
10g.75028694A>CCA377292435DUSP29,KAT6Bc.3870A>C (p.Glu1290Asp)
c.3321A>C (p.Glu1107Asp)
c.2994A>C (p.Glu998Asp)
c.2805A>C (p.Glu935Asp)
n.577-2100T>G
c.*3622-2100T>G (n.*3622-2100T>G)
c.3708A>C (p.Glu1236Asp)
c.2832A>C (p.Glu944Asp)
c.2181A>C (p.Glu727Asp)
c.1785A>C (p.Glu595Asp)
c.1527A>C (p.Glu509Asp)
10g.75028694A>GCA470299573DUSP29,KAT6Bc.3870A>G (p.Glu1290=)
c.3321A>G (p.Glu1107=)
c.2994A>G (p.Glu998=)
c.2805A>G (p.Glu935=)
n.577-2100T>C
c.*3622-2100T>C (n.*3622-2100T>C)
c.3708A>G (p.Glu1236=)
c.2832A>G (p.Glu944=)
c.2181A>G (p.Glu727=)
c.1785A>G (p.Glu595=)
c.1527A>G (p.Glu509=)
10g.75028694A>TCA377292437DUSP29,KAT6Bc.3870A>T (p.Glu1290Asp)
c.3321A>T (p.Glu1107Asp)
c.2994A>T (p.Glu998Asp)
c.2805A>T (p.Glu935Asp)
n.577-2100T>A
c.*3622-2100T>A (n.*3622-2100T>A)
c.3708A>T (p.Glu1236Asp)
c.2832A>T (p.Glu944Asp)
c.2181A>T (p.Glu727Asp)
c.1785A>T (p.Glu595Asp)
c.1527A>T (p.Glu509Asp)
10g.75028695G>ACA377292440DUSP29,KAT6Bc.3871G>A (p.Glu1291Lys)
c.3322G>A (p.Glu1108Lys)
c.2995G>A (p.Glu999Lys)
c.2806G>A (p.Glu936Lys)
n.577-2101C>T
c.*3622-2101C>T (n.*3622-2101C>T)
c.3709G>A (p.Glu1237Lys)
c.2833G>A (p.Glu945Lys)
c.2182G>A (p.Glu728Lys)
c.1786G>A (p.Glu596Lys)
c.1528G>A (p.Glu510Lys)
10g.75028695G>CCA377292447DUSP29,KAT6Bc.3871G>C (p.Glu1291Gln)
c.3322G>C (p.Glu1108Gln)
c.2995G>C (p.Glu999Gln)
c.2806G>C (p.Glu936Gln)
n.577-2101C>G
c.*3622-2101C>G (n.*3622-2101C>G)
c.3709G>C (p.Glu1237Gln)
c.2833G>C (p.Glu945Gln)
c.2182G>C (p.Glu728Gln)
c.1786G>C (p.Glu596Gln)
c.1528G>C (p.Glu510Gln)
10g.75028695G>TCA377292445DUSP29,KAT6Bc.3871G>T (p.Glu1291Ter)
c.3322G>T (p.Glu1108Ter)
c.2995G>T (p.Glu999Ter)
c.2806G>T (p.Glu936Ter)
n.577-2101C>A
c.*3622-2101C>A (n.*3622-2101C>A)
c.3709G>T (p.Glu1237Ter)
c.2833G>T (p.Glu945Ter)
c.2182G>T (p.Glu728Ter)
c.1786G>T (p.Glu596Ter)
c.1528G>T (p.Glu510Ter)
10g.75028696A>CCA377292451DUSP29,KAT6Bc.3872A>C (p.Glu1291Ala)
c.3323A>C (p.Glu1108Ala)
c.2996A>C (p.Glu999Ala)
c.2807A>C (p.Glu936Ala)
n.577-2102T>G
c.*3622-2102T>G (n.*3622-2102T>G)
c.3710A>C (p.Glu1237Ala)
c.2834A>C (p.Glu945Ala)
c.2183A>C (p.Glu728Ala)
c.1787A>C (p.Glu596Ala)
c.1529A>C (p.Glu510Ala)
10g.75028696A>GCA377292454DUSP29,KAT6Bc.3872A>G (p.Glu1291Gly)
c.3323A>G (p.Glu1108Gly)
c.2996A>G (p.Glu999Gly)
c.2807A>G (p.Glu936Gly)
n.577-2102T>C
c.*3622-2102T>C (n.*3622-2102T>C)
c.3710A>G (p.Glu1237Gly)
c.2834A>G (p.Glu945Gly)
c.2183A>G (p.Glu728Gly)
c.1787A>G (p.Glu596Gly)
c.1529A>G (p.Glu510Gly)
10g.75028696A>TCA377292457DUSP29,KAT6Bc.3872A>T (p.Glu1291Val)
c.3323A>T (p.Glu1108Val)
c.2996A>T (p.Glu999Val)
c.2807A>T (p.Glu936Val)
n.577-2102T>A
c.*3622-2102T>A (n.*3622-2102T>A)
c.3710A>T (p.Glu1237Val)
c.2834A>T (p.Glu945Val)
c.2183A>T (p.Glu728Val)
c.1787A>T (p.Glu596Val)
c.1529A>T (p.Glu510Val)
10g.75028697A>CCA377292461DUSP29,KAT6Bc.3873A>C (p.Glu1291Asp)
c.3324A>C (p.Glu1108Asp)
c.2997A>C (p.Glu999Asp)
c.2808A>C (p.Glu936Asp)
n.577-2103T>G
c.*3622-2103T>G (n.*3622-2103T>G)
c.3711A>C (p.Glu1237Asp)
c.2835A>C (p.Glu945Asp)
c.2184A>C (p.Glu728Asp)
c.1788A>C (p.Glu596Asp)
c.1530A>C (p.Glu510Asp)
10g.75028697A>GCA470299574DUSP29,KAT6Bc.3873A>G (p.Glu1291=)
c.3324A>G (p.Glu1108=)
c.2997A>G (p.Glu999=)
c.2808A>G (p.Glu936=)
n.577-2103T>C
c.*3622-2103T>C (n.*3622-2103T>C)
c.3711A>G (p.Glu1237=)
c.2835A>G (p.Glu945=)
c.2184A>G (p.Glu728=)
c.1788A>G (p.Glu596=)
c.1530A>G (p.Glu510=)
10g.75028697A>TCA377292462DUSP29,KAT6Bc.3873A>T (p.Glu1291Asp)
c.3324A>T (p.Glu1108Asp)
c.2997A>T (p.Glu999Asp)
c.2808A>T (p.Glu936Asp)
n.577-2103T>A
c.*3622-2103T>A (n.*3622-2103T>A)
c.3711A>T (p.Glu1237Asp)
c.2835A>T (p.Glu945Asp)
c.2184A>T (p.Glu728Asp)
c.1788A>T (p.Glu596Asp)
c.1530A>T (p.Glu510Asp)
10g.75028698C>ACA377292465DUSP29,KAT6Bc.3874C>A (p.Gln1292Lys)
c.3325C>A (p.Gln1109Lys)
c.2998C>A (p.Gln1000Lys)
c.2809C>A (p.Gln937Lys)
n.577-2104G>T
c.*3622-2104G>T (n.*3622-2104G>T)
c.3712C>A (p.Gln1238Lys)
c.2836C>A (p.Gln946Lys)
c.2185C>A (p.Gln729Lys)
c.1789C>A (p.Gln597Lys)
c.1531C>A (p.Gln511Lys)
10g.75028698C>GCA377292466DUSP29,KAT6Bc.3874C>G (p.Gln1292Glu)
c.3325C>G (p.Gln1109Glu)
c.2998C>G (p.Gln1000Glu)
c.2809C>G (p.Gln937Glu)
n.577-2104G>C
c.*3622-2104G>C (n.*3622-2104G>C)
c.3712C>G (p.Gln1238Glu)
c.2836C>G (p.Gln946Glu)
c.2185C>G (p.Gln729Glu)
c.1789C>G (p.Gln597Glu)
c.1531C>G (p.Gln511Glu)
10g.75028698C>TCA377292467DUSP29,KAT6Bc.3874C>T (p.Gln1292Ter)
c.3325C>T (p.Gln1109Ter)
c.2998C>T (p.Gln1000Ter)
c.2809C>T (p.Gln937Ter)
n.577-2104G>A
c.*3622-2104G>A (n.*3622-2104G>A)
c.3712C>T (p.Gln1238Ter)
c.2836C>T (p.Gln946Ter)
c.2185C>T (p.Gln729Ter)
c.1789C>T (p.Gln597Ter)
c.1531C>T (p.Gln511Ter)
10g.75028699A>CCA377292468DUSP29,KAT6Bc.3875A>C (p.Gln1292Pro)
c.3326A>C (p.Gln1109Pro)
c.2999A>C (p.Gln1000Pro)
c.2810A>C (p.Gln937Pro)
n.577-2105T>G
c.*3622-2105T>G (n.*3622-2105T>G)
c.3713A>C (p.Gln1238Pro)
c.2837A>C (p.Gln946Pro)
c.2186A>C (p.Gln729Pro)
c.1790A>C (p.Gln597Pro)
c.1532A>C (p.Gln511Pro)
10g.75028699A>GCA377292469DUSP29,KAT6Bc.3875A>G (p.Gln1292Arg)
c.3326A>G (p.Gln1109Arg)
c.2999A>G (p.Gln1000Arg)
c.2810A>G (p.Gln937Arg)
n.577-2105T>C
c.*3622-2105T>C (n.*3622-2105T>C)
c.3713A>G (p.Gln1238Arg)
c.2837A>G (p.Gln946Arg)
c.2186A>G (p.Gln729Arg)
c.1790A>G (p.Gln597Arg)
c.1532A>G (p.Gln511Arg)
10g.75028699A>TCA377292470DUSP29,KAT6Bc.3875A>T (p.Gln1292Leu)
c.3326A>T (p.Gln1109Leu)
c.2999A>T (p.Gln1000Leu)
c.2810A>T (p.Gln937Leu)
n.577-2105T>A
c.*3622-2105T>A (n.*3622-2105T>A)
c.3713A>T (p.Gln1238Leu)
c.2837A>T (p.Gln946Leu)
c.2186A>T (p.Gln729Leu)
c.1790A>T (p.Gln597Leu)
c.1532A>T (p.Gln511Leu)
10g.75028701_75028703delCA2609745696DUSP29,KAT6Bc.3877_3879del (p.Lys1293del)
c.3328_3330del (p.Lys1110del)
c.3001_3003del (p.Lys1001del)
c.2812_2814del (p.Lys938del)
n.577-2107_577-2105del
c.*3622-2107_*3622-2105del (n.*3622-2107_*3622-2105del)
c.3715_3717del (p.Lys1239del)
c.2839_2841del (p.Lys947del)
c.2188_2190del (p.Lys730del)
c.1792_1794del (p.Lys598del)
c.1534_1536del (p.Lys512del)
 dbSNP gnomAD v4
10g.75028700G>ACA470299575DUSP29,KAT6Bc.3876G>A (p.Gln1292=)
c.3327G>A (p.Gln1109=)
c.3000G>A (p.Gln1000=)
c.2811G>A (p.Gln937=)
n.577-2106C>T
c.*3622-2106C>T (n.*3622-2106C>T)
c.3714G>A (p.Gln1238=)
c.2838G>A (p.Gln946=)
c.2187G>A (p.Gln729=)
c.1791G>A (p.Gln597=)
c.1533G>A (p.Gln511=)
10g.75028700G>CCA377292471DUSP29,KAT6Bc.3876G>C (p.Gln1292His)
c.3327G>C (p.Gln1109His)
c.3000G>C (p.Gln1000His)
c.2811G>C (p.Gln937His)
n.577-2106C>G
c.*3622-2106C>G (n.*3622-2106C>G)
c.3714G>C (p.Gln1238His)
c.2838G>C (p.Gln946His)
c.2187G>C (p.Gln729His)
c.1791G>C (p.Gln597His)
c.1533G>C (p.Gln511His)
10g.75028700G>TCA377292472DUSP29,KAT6Bc.3876G>T (p.Gln1292His)
c.3327G>T (p.Gln1109His)
c.3000G>T (p.Gln1000His)
c.2811G>T (p.Gln937His)
n.577-2106C>A
c.*3622-2106C>A (n.*3622-2106C>A)
c.3714G>T (p.Gln1238His)
c.2838G>T (p.Gln946His)
c.2187G>T (p.Gln729His)
c.1791G>T (p.Gln597His)
c.1533G>T (p.Gln511His)
10g.75028701A=CA1920306429DUSP29,KAT6Bc.3877A= (p.Lys1293=)
c.3328A= (p.Lys1110=)
c.3001A= (p.Lys1001=)
c.2812A= (p.Lys938=)
n.577-2107T=
c.*3622-2107T= (n.*3622-2107T=)
c.3715A= (p.Lys1239=)
c.2839A= (p.Lys947=)
c.2188A= (p.Lys730=)
c.1792A= (p.Lys598=)
c.1534A= (p.Lys512=)
10g.75028701A>CCA377292474DUSP29,KAT6Bc.3877A>C (p.Lys1293Gln)
c.3328A>C (p.Lys1110Gln)
c.3001A>C (p.Lys1001Gln)
c.2812A>C (p.Lys938Gln)
n.577-2107T>G
c.*3622-2107T>G (n.*3622-2107T>G)
c.3715A>C (p.Lys1239Gln)
c.2839A>C (p.Lys947Gln)
c.2188A>C (p.Lys730Gln)
c.1792A>C (p.Lys598Gln)
c.1534A>C (p.Lys512Gln)
10g.75028701A>GCA377292476DUSP29,KAT6Bc.3877A>G (p.Lys1293Glu)
c.3328A>G (p.Lys1110Glu)
c.3001A>G (p.Lys1001Glu)
c.2812A>G (p.Lys938Glu)
n.577-2107T>C
c.*3622-2107T>C (n.*3622-2107T>C)
c.3715A>G (p.Lys1239Glu)
c.2839A>G (p.Lys947Glu)
c.2188A>G (p.Lys730Glu)
c.1792A>G (p.Lys598Glu)
c.1534A>G (p.Lys512Glu)
 ClinVar
10g.75028701A>TCA232609DUSP29,KAT6Bc.3877A>T (p.Lys1293Ter)
c.3328A>T (p.Lys1110Ter)
c.3001A>T (p.Lys1001Ter)
c.2812A>T (p.Lys938Ter)
n.577-2107T>A
c.*3622-2107T>A (n.*3622-2107T>A)
c.3715A>T (p.Lys1239Ter)
c.2839A>T (p.Lys947Ter)
c.2188A>T (p.Lys730Ter)
c.1792A>T (p.Lys598Ter)
c.1534A>T (p.Lys512Ter)
 ClinVar dbSNP
10g.75028701_75028704delinsAAGGCA1920306430DUSP29,KAT6Bc.3877_3880delinsAAGG (p.Lys1293=)
c.3328_3331delinsAAGG (p.Lys1110=)
c.3001_3004delinsAAGG (p.Lys1001=)
c.2812_2815delinsAAGG (p.Lys938=)
n.577-2110_577-2107delinsCCTT
c.*3622-2110_*3622-2107delinsCCTT (n.*3622-2110_*3622-2107delinsCCTT)
c.3715_3718delinsAAGG (p.Lys1239=)
c.2839_2842delinsAAGG (p.Lys947=)
c.2188_2191delinsAAGG (p.Lys730=)
c.1792_1795delinsAAGG (p.Lys598=)
c.1534_1537delinsAAGG (p.Lys512=)
10g.75028702A>CCA377292479DUSP29,KAT6Bc.3878A>C (p.Lys1293Thr)
c.3329A>C (p.Lys1110Thr)
c.3002A>C (p.Lys1001Thr)
c.2813A>C (p.Lys938Thr)
n.577-2108T>G
c.*3622-2108T>G (n.*3622-2108T>G)
c.3716A>C (p.Lys1239Thr)
c.2840A>C (p.Lys947Thr)
c.2189A>C (p.Lys730Thr)
c.1793A>C (p.Lys598Thr)
c.1535A>C (p.Lys512Thr)
10g.75028702A>GCA377292481DUSP29,KAT6Bc.3878A>G (p.Lys1293Arg)
c.3329A>G (p.Lys1110Arg)
c.3002A>G (p.Lys1001Arg)
c.2813A>G (p.Lys938Arg)
n.577-2108T>C
c.*3622-2108T>C (n.*3622-2108T>C)
c.3716A>G (p.Lys1239Arg)
c.2840A>G (p.Lys947Arg)
c.2189A>G (p.Lys730Arg)
c.1793A>G (p.Lys598Arg)
c.1535A>G (p.Lys512Arg)
10g.75028702A>TCA377292483DUSP29,KAT6Bc.3878A>T (p.Lys1293Met)
c.3329A>T (p.Lys1110Met)
c.3002A>T (p.Lys1001Met)
c.2813A>T (p.Lys938Met)
n.577-2108T>A
c.*3622-2108T>A (n.*3622-2108T>A)
c.3716A>T (p.Lys1239Met)
c.2840A>T (p.Lys947Met)
c.2189A>T (p.Lys730Met)
c.1793A>T (p.Lys598Met)
c.1535A>T (p.Lys512Met)
10g.75028704_75028706delCA1920306431DUSP29,KAT6Bc.3880_3882del (p.Glu1294del)
c.3331_3333del (p.Glu1111del)
c.3004_3006del (p.Glu1002del)
c.2815_2817del (p.Glu939del)
n.577-2110_577-2108del
c.*3622-2110_*3622-2108del (n.*3622-2110_*3622-2108del)
c.3718_3720del (p.Glu1240del)
c.2842_2844del (p.Glu948del)
c.2191_2193del (p.Glu731del)
c.1795_1797del (p.Glu599del)
c.1537_1539del (p.Glu513del)
 dbSNP
10g.75028703G>ACA470299576DUSP29,KAT6Bc.3879G>A (p.Lys1293=)
c.3330G>A (p.Lys1110=)
c.3003G>A (p.Lys1001=)
c.2814G>A (p.Lys938=)
n.577-2109C>T
c.*3622-2109C>T (n.*3622-2109C>T)
c.3717G>A (p.Lys1239=)
c.2841G>A (p.Lys947=)
c.2190G>A (p.Lys730=)
c.1794G>A (p.Lys598=)
c.1536G>A (p.Lys512=)
10g.75028703G>CCA377292484DUSP29,KAT6Bc.3879G>C (p.Lys1293Asn)
c.3330G>C (p.Lys1110Asn)
c.3003G>C (p.Lys1001Asn)
c.2814G>C (p.Lys938Asn)
n.577-2109C>G
c.*3622-2109C>G (n.*3622-2109C>G)
c.3717G>C (p.Lys1239Asn)
c.2841G>C (p.Lys947Asn)
c.2190G>C (p.Lys730Asn)
c.1794G>C (p.Lys598Asn)
c.1536G>C (p.Lys512Asn)
10g.75028703G>TCA377292486DUSP29,KAT6Bc.3879G>T (p.Lys1293Asn)
c.3330G>T (p.Lys1110Asn)
c.3003G>T (p.Lys1001Asn)
c.2814G>T (p.Lys938Asn)
n.577-2109C>A
c.*3622-2109C>A (n.*3622-2109C>A)
c.3717G>T (p.Lys1239Asn)
c.2841G>T (p.Lys947Asn)
c.2190G>T (p.Lys730Asn)
c.1794G>T (p.Lys598Asn)
c.1536G>T (p.Lys512Asn)
10g.75028704G>ACA377292488DUSP29,KAT6Bc.3880G>A (p.Glu1294Lys)
c.3331G>A (p.Glu1111Lys)
c.3004G>A (p.Glu1002Lys)
c.2815G>A (p.Glu939Lys)
n.577-2110C>T
c.*3622-2110C>T (n.*3622-2110C>T)
c.3718G>A (p.Glu1240Lys)
c.2842G>A (p.Glu948Lys)
c.2191G>A (p.Glu731Lys)
c.1795G>A (p.Glu599Lys)
c.1537G>A (p.Glu513Lys)
10g.75028704G>CCA377292489DUSP29,KAT6Bc.3880G>C (p.Glu1294Gln)
c.3331G>C (p.Glu1111Gln)
c.3004G>C (p.Glu1002Gln)
c.2815G>C (p.Glu939Gln)
n.577-2110C>G
c.*3622-2110C>G (n.*3622-2110C>G)
c.3718G>C (p.Glu1240Gln)
c.2842G>C (p.Glu948Gln)
c.2191G>C (p.Glu731Gln)
c.1795G>C (p.Glu599Gln)
c.1537G>C (p.Glu513Gln)
10g.75028704G>TCA377292491DUSP29,KAT6Bc.3880G>T (p.Glu1294Ter)
c.3331G>T (p.Glu1111Ter)
c.3004G>T (p.Glu1002Ter)
c.2815G>T (p.Glu939Ter)
n.577-2110C>A
c.*3622-2110C>A (n.*3622-2110C>A)
c.3718G>T (p.Glu1240Ter)
c.2842G>T (p.Glu948Ter)
c.2191G>T (p.Glu731Ter)
c.1795G>T (p.Glu599Ter)
c.1537G>T (p.Glu513Ter)
10g.75028705A>CCA377292494DUSP29,KAT6Bc.3881A>C (p.Glu1294Ala)
c.3332A>C (p.Glu1111Ala)
c.3005A>C (p.Glu1002Ala)
c.2816A>C (p.Glu939Ala)
n.577-2111T>G
c.*3622-2111T>G (n.*3622-2111T>G)
c.3719A>C (p.Glu1240Ala)
c.2843A>C (p.Glu948Ala)
c.2192A>C (p.Glu731Ala)
c.1796A>C (p.Glu599Ala)
c.1538A>C (p.Glu513Ala)
10g.75028705A>GCA377292495DUSP29,KAT6Bc.3881A>G (p.Glu1294Gly)
c.3332A>G (p.Glu1111Gly)
c.3005A>G (p.Glu1002Gly)
c.2816A>G (p.Glu939Gly)
n.577-2111T>C
c.*3622-2111T>C (n.*3622-2111T>C)
c.3719A>G (p.Glu1240Gly)
c.2843A>G (p.Glu948Gly)
c.2192A>G (p.Glu731Gly)
c.1796A>G (p.Glu599Gly)
c.1538A>G (p.Glu513Gly)
10g.75028705A>TCA377292496DUSP29,KAT6Bc.3881A>T (p.Glu1294Val)
c.3332A>T (p.Glu1111Val)
c.3005A>T (p.Glu1002Val)
c.2816A>T (p.Glu939Val)
n.577-2111T>A
c.*3622-2111T>A (n.*3622-2111T>A)
c.3719A>T (p.Glu1240Val)
c.2843A>T (p.Glu948Val)
c.2192A>T (p.Glu731Val)
c.1796A>T (p.Glu599Val)
c.1538A>T (p.Glu513Val)
10g.75028706G>ACA470299577DUSP29,KAT6Bc.3882G>A (p.Glu1294=)
c.3333G>A (p.Glu1111=)
c.3006G>A (p.Glu1002=)
c.2817G>A (p.Glu939=)
n.577-2112C>T
c.*3622-2112C>T (n.*3622-2112C>T)
c.3720G>A (p.Glu1240=)
c.2844G>A (p.Glu948=)
c.2193G>A (p.Glu731=)
c.1797G>A (p.Glu599=)
c.1539G>A (p.Glu513=)
10g.75028706G>CCA377292497DUSP29,KAT6Bc.3882G>C (p.Glu1294Asp)
c.3333G>C (p.Glu1111Asp)
c.3006G>C (p.Glu1002Asp)
c.2817G>C (p.Glu939Asp)
n.577-2112C>G
c.*3622-2112C>G (n.*3622-2112C>G)
c.3720G>C (p.Glu1240Asp)
c.2844G>C (p.Glu948Asp)
c.2193G>C (p.Glu731Asp)
c.1797G>C (p.Glu599Asp)
c.1539G>C (p.Glu513Asp)
10g.75028706G>TCA377292498DUSP29,KAT6Bc.3882G>T (p.Glu1294Asp)
c.3333G>T (p.Glu1111Asp)
c.3006G>T (p.Glu1002Asp)
c.2817G>T (p.Glu939Asp)
n.577-2112C>A
c.*3622-2112C>A (n.*3622-2112C>A)
c.3720G>T (p.Glu1240Asp)
c.2844G>T (p.Glu948Asp)
c.2193G>T (p.Glu731Asp)
c.1797G>T (p.Glu599Asp)
c.1539G>T (p.Glu513Asp)
10g.75028707A>CCA377292499DUSP29,KAT6Bc.3883A>C (p.Thr1295Pro)
c.3334A>C (p.Thr1112Pro)
c.3007A>C (p.Thr1003Pro)
c.2818A>C (p.Thr940Pro)
n.577-2113T>G
c.*3622-2113T>G (n.*3622-2113T>G)
c.3721A>C (p.Thr1241Pro)
c.2845A>C (p.Thr949Pro)
c.2194A>C (p.Thr732Pro)
c.1798A>C (p.Thr600Pro)
c.1540A>C (p.Thr514Pro)
10g.75028707A>GCA377292500DUSP29,KAT6Bc.3883A>G (p.Thr1295Ala)
c.3334A>G (p.Thr1112Ala)
c.3007A>G (p.Thr1003Ala)
c.2818A>G (p.Thr940Ala)
n.577-2113T>C
c.*3622-2113T>C (n.*3622-2113T>C)
c.3721A>G (p.Thr1241Ala)
c.2845A>G (p.Thr949Ala)
c.2194A>G (p.Thr732Ala)
c.1798A>G (p.Thr600Ala)
c.1540A>G (p.Thr514Ala)
10g.75028707A>TCA377292501DUSP29,KAT6Bc.3883A>T (p.Thr1295Ser)
c.3334A>T (p.Thr1112Ser)
c.3007A>T (p.Thr1003Ser)
c.2818A>T (p.Thr940Ser)
n.577-2113T>A
c.*3622-2113T>A (n.*3622-2113T>A)
c.3721A>T (p.Thr1241Ser)
c.2845A>T (p.Thr949Ser)
c.2194A>T (p.Thr732Ser)
c.1798A>T (p.Thr600Ser)
c.1540A>T (p.Thr514Ser)
10g.75028708C>ACA377292502DUSP29,KAT6Bc.3884C>A (p.Thr1295Asn)
c.3335C>A (p.Thr1112Asn)
c.3008C>A (p.Thr1003Asn)
c.2819C>A (p.Thr940Asn)
n.577-2114G>T
c.*3622-2114G>T (n.*3622-2114G>T)
c.3722C>A (p.Thr1241Asn)
c.2846C>A (p.Thr949Asn)
c.2195C>A (p.Thr732Asn)
c.1799C>A (p.Thr600Asn)
c.1541C>A (p.Thr514Asn)
 dbSNP gnomAD v2 gnomAD v4
10g.75028708C=CA1920306432DUSP29,KAT6Bc.3884C= (p.Thr1295=)
c.3335C= (p.Thr1112=)
c.3008C= (p.Thr1003=)
c.2819C= (p.Thr940=)
n.577-2114G=
c.*3622-2114G= (n.*3622-2114G=)
c.3722C= (p.Thr1241=)
c.2846C= (p.Thr949=)
c.2195C= (p.Thr732=)
c.1799C= (p.Thr600=)
c.1541C= (p.Thr514=)
10g.75028708C>GCA377292503DUSP29,KAT6Bc.3884C>G (p.Thr1295Ser)
c.3335C>G (p.Thr1112Ser)
c.3008C>G (p.Thr1003Ser)
c.2819C>G (p.Thr940Ser)
n.577-2114G>C
c.*3622-2114G>C (n.*3622-2114G>C)
c.3722C>G (p.Thr1241Ser)
c.2846C>G (p.Thr949Ser)
c.2195C>G (p.Thr732Ser)
c.1799C>G (p.Thr600Ser)
c.1541C>G (p.Thr514Ser)
10g.75028708C>TCA377292504DUSP29,KAT6Bc.3884C>T (p.Thr1295Ile)
c.3335C>T (p.Thr1112Ile)
c.3008C>T (p.Thr1003Ile)
c.2819C>T (p.Thr940Ile)
n.577-2114G>A
c.*3622-2114G>A (n.*3622-2114G>A)
c.3722C>T (p.Thr1241Ile)
c.2846C>T (p.Thr949Ile)
c.2195C>T (p.Thr732Ile)
c.1799C>T (p.Thr600Ile)
c.1541C>T (p.Thr514Ile)
10g.75028709T>ACA470299578DUSP29,KAT6Bc.3885T>A (p.Thr1295=)
c.3336T>A (p.Thr1112=)
c.3009T>A (p.Thr1003=)
c.2820T>A (p.Thr940=)
n.577-2115A>T
c.*3622-2115A>T (n.*3622-2115A>T)
c.3723T>A (p.Thr1241=)
c.2847T>A (p.Thr949=)
c.2196T>A (p.Thr732=)
c.1800T>A (p.Thr600=)
c.1542T>A (p.Thr514=)
10g.75028709T>CCA470299579DUSP29,KAT6Bc.3885T>C (p.Thr1295=)
c.3336T>C (p.Thr1112=)
c.3009T>C (p.Thr1003=)
c.2820T>C (p.Thr940=)
n.577-2115A>G
c.*3622-2115A>G (n.*3622-2115A>G)
c.3723T>C (p.Thr1241=)
c.2847T>C (p.Thr949=)
c.2196T>C (p.Thr732=)
c.1800T>C (p.Thr600=)
c.1542T>C (p.Thr514=)
10g.75028709T>GCA470299580DUSP29,KAT6Bc.3885T>G (p.Thr1295=)
c.3336T>G (p.Thr1112=)
c.3009T>G (p.Thr1003=)
c.2820T>G (p.Thr940=)
n.577-2115A>C
c.*3622-2115A>C (n.*3622-2115A>C)
c.3723T>G (p.Thr1241=)
c.2847T>G (p.Thr949=)
c.2196T>G (p.Thr732=)
c.1800T>G (p.Thr600=)
c.1542T>G (p.Thr514=)
10g.75028710T>ACA377292505DUSP29,KAT6Bc.3886T>A (p.Ser1296Thr)
c.3337T>A (p.Ser1113Thr)
c.3010T>A (p.Ser1004Thr)
c.2821T>A (p.Ser941Thr)
n.577-2116A>T
c.*3622-2116A>T (n.*3622-2116A>T)
c.3724T>A (p.Ser1242Thr)
c.2848T>A (p.Ser950Thr)
c.2197T>A (p.Ser733Thr)
c.1801T>A (p.Ser601Thr)
c.1543T>A (p.Ser515Thr)
10g.75028710T>CCA377292506DUSP29,KAT6Bc.3886T>C (p.Ser1296Pro)
c.3337T>C (p.Ser1113Pro)
c.3010T>C (p.Ser1004Pro)
c.2821T>C (p.Ser941Pro)
n.577-2116A>G
c.*3622-2116A>G (n.*3622-2116A>G)
c.3724T>C (p.Ser1242Pro)
c.2848T>C (p.Ser950Pro)
c.2197T>C (p.Ser733Pro)
c.1801T>C (p.Ser601Pro)
c.1543T>C (p.Ser515Pro)
10g.75028710T>GCA377292507DUSP29,KAT6Bc.3886T>G (p.Ser1296Ala)
c.3337T>G (p.Ser1113Ala)
c.3010T>G (p.Ser1004Ala)
c.2821T>G (p.Ser941Ala)
n.577-2116A>C
c.*3622-2116A>C (n.*3622-2116A>C)
c.3724T>G (p.Ser1242Ala)
c.2848T>G (p.Ser950Ala)
c.2197T>G (p.Ser733Ala)
c.1801T>G (p.Ser601Ala)
c.1543T>G (p.Ser515Ala)
10g.75028711C>ACA377292508DUSP29,KAT6Bc.3887C>A (p.Ser1296Ter)
c.3338C>A (p.Ser1113Ter)
c.3011C>A (p.Ser1004Ter)
c.2822C>A (p.Ser941Ter)
n.577-2117G>T
c.*3622-2117G>T (n.*3622-2117G>T)
c.3725C>A (p.Ser1242Ter)
c.2849C>A (p.Ser950Ter)
c.2198C>A (p.Ser733Ter)
c.1802C>A (p.Ser601Ter)
c.1544C>A (p.Ser515Ter)
10g.75028711C>GCA377292509DUSP29,KAT6Bc.3887C>G (p.Ser1296Ter)
c.3338C>G (p.Ser1113Ter)
c.3011C>G (p.Ser1004Ter)
c.2822C>G (p.Ser941Ter)
n.577-2117G>C
c.*3622-2117G>C (n.*3622-2117G>C)
c.3725C>G (p.Ser1242Ter)
c.2849C>G (p.Ser950Ter)
c.2198C>G (p.Ser733Ter)
c.1802C>G (p.Ser601Ter)
c.1544C>G (p.Ser515Ter)
10g.75028711C>TCA377292510DUSP29,KAT6Bc.3887C>T (p.Ser1296Leu)
c.3338C>T (p.Ser1113Leu)
c.3011C>T (p.Ser1004Leu)
c.2822C>T (p.Ser941Leu)
n.577-2117G>A
c.*3622-2117G>A (n.*3622-2117G>A)
c.3725C>T (p.Ser1242Leu)
c.2849C>T (p.Ser950Leu)
c.2198C>T (p.Ser733Leu)
c.1802C>T (p.Ser601Leu)
c.1544C>T (p.Ser515Leu)
10g.75028712A>CCA470299581DUSP29,KAT6Bc.3888A>C (p.Ser1296=)
c.3339A>C (p.Ser1113=)
c.3012A>C (p.Ser1004=)
c.2823A>C (p.Ser941=)
n.577-2118T>G
c.*3622-2118T>G (n.*3622-2118T>G)
c.3726A>C (p.Ser1242=)
c.2850A>C (p.Ser950=)
c.2199A>C (p.Ser733=)
c.1803A>C (p.Ser601=)
c.1545A>C (p.Ser515=)
10g.75028712A>GCA470299582DUSP29,KAT6Bc.3888A>G (p.Ser1296=)
c.3339A>G (p.Ser1113=)
c.3012A>G (p.Ser1004=)
c.2823A>G (p.Ser941=)
n.577-2118T>C
c.*3622-2118T>C (n.*3622-2118T>C)
c.3726A>G (p.Ser1242=)
c.2850A>G (p.Ser950=)
c.2199A>G (p.Ser733=)
c.1803A>G (p.Ser601=)
c.1545A>G (p.Ser515=)
 gnomAD v4
10g.75028712A>TCA470299583DUSP29,KAT6Bc.3888A>T (p.Ser1296=)
c.3339A>T (p.Ser1113=)
c.3012A>T (p.Ser1004=)
c.2823A>T (p.Ser941=)
n.577-2118T>A
c.*3622-2118T>A (n.*3622-2118T>A)
c.3726A>T (p.Ser1242=)
c.2850A>T (p.Ser950=)
c.2199A>T (p.Ser733=)
c.1803A>T (p.Ser601=)
c.1545A>T (p.Ser515=)
10g.75028713G>ACA377292511DUSP29,KAT6Bc.3889G>A (p.Glu1297Lys)
c.3340G>A (p.Glu1114Lys)
c.3013G>A (p.Glu1005Lys)
c.2824G>A (p.Glu942Lys)
n.577-2119C>T
c.*3622-2119C>T (n.*3622-2119C>T)
c.3727G>A (p.Glu1243Lys)
c.2851G>A (p.Glu951Lys)
c.2200G>A (p.Glu734Lys)
c.1804G>A (p.Glu602Lys)
c.1546G>A (p.Glu516Lys)
10g.75028713G>CCA377292513DUSP29,KAT6Bc.3889G>C (p.Glu1297Gln)
c.3340G>C (p.Glu1114Gln)
c.3013G>C (p.Glu1005Gln)
c.2824G>C (p.Glu942Gln)
n.577-2119C>G
c.*3622-2119C>G (n.*3622-2119C>G)
c.3727G>C (p.Glu1243Gln)
c.2851G>C (p.Glu951Gln)
c.2200G>C (p.Glu734Gln)
c.1804G>C (p.Glu602Gln)
c.1546G>C (p.Glu516Gln)
10g.75028713G>TCA377292512DUSP29,KAT6Bc.3889G>T (p.Glu1297Ter)
c.3340G>T (p.Glu1114Ter)
c.3013G>T (p.Glu1005Ter)
c.2824G>T (p.Glu942Ter)
n.577-2119C>A
c.*3622-2119C>A (n.*3622-2119C>A)
c.3727G>T (p.Glu1243Ter)
c.2851G>T (p.Glu951Ter)
c.2200G>T (p.Glu734Ter)
c.1804G>T (p.Glu602Ter)
c.1546G>T (p.Glu516Ter)
10g.75028714A>CCA377292514DUSP29,KAT6Bc.3890A>C (p.Glu1297Ala)
c.3341A>C (p.Glu1114Ala)
c.3014A>C (p.Glu1005Ala)
c.2825A>C (p.Glu942Ala)
n.577-2120T>G
c.*3622-2120T>G (n.*3622-2120T>G)
c.3728A>C (p.Glu1243Ala)
c.2852A>C (p.Glu951Ala)
c.2201A>C (p.Glu734Ala)
c.1805A>C (p.Glu602Ala)
c.1547A>C (p.Glu516Ala)
10g.75028714A>GCA377292516DUSP29,KAT6Bc.3890A>G (p.Glu1297Gly)
c.3341A>G (p.Glu1114Gly)
c.3014A>G (p.Glu1005Gly)
c.2825A>G (p.Glu942Gly)
n.577-2120T>C
c.*3622-2120T>C (n.*3622-2120T>C)
c.3728A>G (p.Glu1243Gly)
c.2852A>G (p.Glu951Gly)
c.2201A>G (p.Glu734Gly)
c.1805A>G (p.Glu602Gly)
c.1547A>G (p.Glu516Gly)
10g.75028714A>TCA377292515DUSP29,KAT6Bc.3890A>T (p.Glu1297Val)
c.3341A>T (p.Glu1114Val)
c.3014A>T (p.Glu1005Val)
c.2825A>T (p.Glu942Val)
n.577-2120T>A
c.*3622-2120T>A (n.*3622-2120T>A)
c.3728A>T (p.Glu1243Val)
c.2852A>T (p.Glu951Val)
c.2201A>T (p.Glu734Val)
c.1805A>T (p.Glu602Val)
c.1547A>T (p.Glu516Val)
10g.75028715A>CCA377292517DUSP29,KAT6Bc.3891A>C (p.Glu1297Asp)
c.3342A>C (p.Glu1114Asp)
c.3015A>C (p.Glu1005Asp)
c.2826A>C (p.Glu942Asp)
n.577-2121T>G
c.*3622-2121T>G (n.*3622-2121T>G)
c.3729A>C (p.Glu1243Asp)
c.2853A>C (p.Glu951Asp)
c.2202A>C (p.Glu734Asp)
c.1806A>C (p.Glu602Asp)
c.1548A>C (p.Glu516Asp)
10g.75028715A>GCA470299585DUSP29,KAT6Bc.3891A>G (p.Glu1297=)
c.3342A>G (p.Glu1114=)
c.3015A>G (p.Glu1005=)
c.2826A>G (p.Glu942=)
n.577-2121T>C
c.*3622-2121T>C (n.*3622-2121T>C)
c.3729A>G (p.Glu1243=)
c.2853A>G (p.Glu951=)
c.2202A>G (p.Glu734=)
c.1806A>G (p.Glu602=)
c.1548A>G (p.Glu516=)
10g.75028715A>TCA377292518DUSP29,KAT6Bc.3891A>T (p.Glu1297Asp)
c.3342A>T (p.Glu1114Asp)
c.3015A>T (p.Glu1005Asp)
c.2826A>T (p.Glu942Asp)
n.577-2121T>A
c.*3622-2121T>A (n.*3622-2121T>A)
c.3729A>T (p.Glu1243Asp)
c.2853A>T (p.Glu951Asp)
c.2202A>T (p.Glu734Asp)
c.1806A>T (p.Glu602Asp)
c.1548A>T (p.Glu516Asp)
10g.75028716G>ACA377292519DUSP29,KAT6Bc.3892G>A (p.Gly1298Arg)
c.3343G>A (p.Gly1115Arg)
c.3016G>A (p.Gly1006Arg)
c.2827G>A (p.Gly943Arg)
n.577-2122C>T
c.*3622-2122C>T (n.*3622-2122C>T)
c.3730G>A (p.Gly1244Arg)
c.2854G>A (p.Gly952Arg)
c.2203G>A (p.Gly735Arg)
c.1807G>A (p.Gly603Arg)
c.1549G>A (p.Gly517Arg)
 gnomAD v4
10g.75028716G>CCA377292520DUSP29,KAT6Bc.3892G>C (p.Gly1298Arg)
c.3343G>C (p.Gly1115Arg)
c.3016G>C (p.Gly1006Arg)
c.2827G>C (p.Gly943Arg)
n.577-2122C>G
c.*3622-2122C>G (n.*3622-2122C>G)
c.3730G>C (p.Gly1244Arg)
c.2854G>C (p.Gly952Arg)
c.2203G>C (p.Gly735Arg)
c.1807G>C (p.Gly603Arg)
c.1549G>C (p.Gly517Arg)
10g.75028716G=CA1920306433DUSP29,KAT6Bc.3892G= (p.Gly1298=)
c.3343G= (p.Gly1115=)
c.3016G= (p.Gly1006=)
c.2827G= (p.Gly943=)
n.577-2122C=
c.*3622-2122C= (n.*3622-2122C=)
c.3730G= (p.Gly1244=)
c.2854G= (p.Gly952=)
c.2203G= (p.Gly735=)
c.1807G= (p.Gly603=)
c.1549G= (p.Gly517=)
10g.75028716G>TCA129316DUSP29,KAT6Bc.3892G>T (p.Gly1298Ter)
c.3343G>T (p.Gly1115Ter)
c.3016G>T (p.Gly1006Ter)
c.2827G>T (p.Gly943Ter)
n.577-2122C>A
c.*3622-2122C>A (n.*3622-2122C>A)
c.3730G>T (p.Gly1244Ter)
c.2854G>T (p.Gly952Ter)
c.2203G>T (p.Gly735Ter)
c.1807G>T (p.Gly603Ter)
c.1549G>T (p.Gly517Ter)
 ClinVar dbSNP
10g.75028717G>ACA377292521DUSP29,KAT6Bc.3893G>A (p.Gly1298Glu)
c.3344G>A (p.Gly1115Glu)
c.3017G>A (p.Gly1006Glu)
c.2828G>A (p.Gly943Glu)
n.577-2123C>T
c.*3622-2123C>T (n.*3622-2123C>T)
c.3731G>A (p.Gly1244Glu)
c.2855G>A (p.Gly952Glu)
c.2204G>A (p.Gly735Glu)
c.1808G>A (p.Gly603Glu)
c.1550G>A (p.Gly517Glu)
10g.75028717G>CCA377292522DUSP29,KAT6Bc.3893G>C (p.Gly1298Ala)
c.3344G>C (p.Gly1115Ala)
c.3017G>C (p.Gly1006Ala)
c.2828G>C (p.Gly943Ala)
n.577-2123C>G
c.*3622-2123C>G (n.*3622-2123C>G)
c.3731G>C (p.Gly1244Ala)
c.2855G>C (p.Gly952Ala)
c.2204G>C (p.Gly735Ala)
c.1808G>C (p.Gly603Ala)
c.1550G>C (p.Gly517Ala)
10g.75028717G>TCA377292523DUSP29,KAT6Bc.3893G>T (p.Gly1298Val)
c.3344G>T (p.Gly1115Val)
c.3017G>T (p.Gly1006Val)
c.2828G>T (p.Gly943Val)
n.577-2123C>A
c.*3622-2123C>A (n.*3622-2123C>A)
c.3731G>T (p.Gly1244Val)
c.2855G>T (p.Gly952Val)
c.2204G>T (p.Gly735Val)
c.1808G>T (p.Gly603Val)
c.1550G>T (p.Gly517Val)
10g.75028718A=CA1920306434DUSP29,KAT6Bc.3894A= (p.Gly1298=)
c.3345A= (p.Gly1115=)
c.3018A= (p.Gly1006=)
c.2829A= (p.Gly943=)
n.577-2124T=
c.*3622-2124T= (n.*3622-2124T=)
c.3732A= (p.Gly1244=)
c.2856A= (p.Gly952=)
c.2205A= (p.Gly735=)
c.1809A= (p.Gly603=)
c.1551A= (p.Gly517=)
10g.75028718A>CCA470299586DUSP29,KAT6Bc.3894A>C (p.Gly1298=)
c.3345A>C (p.Gly1115=)
c.3018A>C (p.Gly1006=)
c.2829A>C (p.Gly943=)
n.577-2124T>G
c.*3622-2124T>G (n.*3622-2124T>G)
c.3732A>C (p.Gly1244=)
c.2856A>C (p.Gly952=)
c.2205A>C (p.Gly735=)
c.1809A>C (p.Gly603=)
c.1551A>C (p.Gly517=)
10g.75028718A>GCA5564919DUSP29,KAT6Bc.3894A>G (p.Gly1298=)
c.3345A>G (p.Gly1115=)
c.3018A>G (p.Gly1006=)
c.2829A>G (p.Gly943=)
n.577-2124T>C
c.*3622-2124T>C (n.*3622-2124T>C)
c.3732A>G (p.Gly1244=)
c.2856A>G (p.Gly952=)
c.2205A>G (p.Gly735=)
c.1809A>G (p.Gly603=)
c.1551A>G (p.Gly517=)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.75028718A>TCA470299587DUSP29,KAT6Bc.3894A>T (p.Gly1298=)
c.3345A>T (p.Gly1115=)
c.3018A>T (p.Gly1006=)
c.2829A>T (p.Gly943=)
n.577-2124T>A
c.*3622-2124T>A (n.*3622-2124T>A)
c.3732A>T (p.Gly1244=)
c.2856A>T (p.Gly952=)
c.2205A>T (p.Gly735=)
c.1809A>T (p.Gly603=)
c.1551A>T (p.Gly517=)
10g.75028722dupCA658761662DUSP29,KAT6Bc.3898dup (p.Thr1300AsnfsTer9)
c.3349dup (p.Thr1117AsnfsTer9)
c.3022dup (p.Thr1008AsnfsTer9)
c.2833dup (p.Thr945AsnfsTer9)
n.577-2124dup
c.*3622-2124dup (n.*3622-2124dup)
c.3736dup (p.Thr1246AsnfsTer9)
c.2860dup (p.Thr954AsnfsTer9)
c.2209dup (p.Thr737AsnfsTer9)
c.1813dup (p.Thr605AsnfsTer9)
c.1555dup (p.Thr519AsnfsTer9)
10g.75028719A>CCA377292524DUSP29,KAT6Bc.3895A>C (p.Lys1299Gln)
c.3346A>C (p.Lys1116Gln)
c.3019A>C (p.Lys1007Gln)
c.2830A>C (p.Lys944Gln)
n.577-2125T>G
c.*3622-2125T>G (n.*3622-2125T>G)
c.3733A>C (p.Lys1245Gln)
c.2857A>C (p.Lys953Gln)
c.2206A>C (p.Lys736Gln)
c.1810A>C (p.Lys604Gln)
c.1552A>C (p.Lys518Gln)
10g.75028719A>GCA377292525DUSP29,KAT6Bc.3895A>G (p.Lys1299Glu)
c.3346A>G (p.Lys1116Glu)
c.3019A>G (p.Lys1007Glu)
c.2830A>G (p.Lys944Glu)
n.577-2125T>C
c.*3622-2125T>C (n.*3622-2125T>C)
c.3733A>G (p.Lys1245Glu)
c.2857A>G (p.Lys953Glu)
c.2206A>G (p.Lys736Glu)
c.1810A>G (p.Lys604Glu)
c.1552A>G (p.Lys518Glu)
10g.75028719A>TCA377292526DUSP29,KAT6Bc.3895A>T (p.Lys1299Ter)
c.3346A>T (p.Lys1116Ter)
c.3019A>T (p.Lys1007Ter)
c.2830A>T (p.Lys944Ter)
n.577-2125T>A
c.*3622-2125T>A (n.*3622-2125T>A)
c.3733A>T (p.Lys1245Ter)
c.2857A>T (p.Lys953Ter)
c.2206A>T (p.Lys736Ter)
c.1810A>T (p.Lys604Ter)
c.1552A>T (p.Lys518Ter)
10g.75028720A=CA1920306435DUSP29,KAT6Bc.3896A= (p.Lys1299=)
c.3347A= (p.Lys1116=)
c.3020A= (p.Lys1007=)
c.2831A= (p.Lys944=)
n.577-2126T=
c.*3622-2126T= (n.*3622-2126T=)
c.3734A= (p.Lys1245=)
c.2858A= (p.Lys953=)
c.2207A= (p.Lys736=)
c.1811A= (p.Lys604=)
c.1553A= (p.Lys518=)
10g.75028720A>CCA377292527DUSP29,KAT6Bc.3896A>C (p.Lys1299Thr)
c.3347A>C (p.Lys1116Thr)
c.3020A>C (p.Lys1007Thr)
c.2831A>C (p.Lys944Thr)
n.577-2126T>G
c.*3622-2126T>G (n.*3622-2126T>G)
c.3734A>C (p.Lys1245Thr)
c.2858A>C (p.Lys953Thr)
c.2207A>C (p.Lys736Thr)
c.1811A>C (p.Lys604Thr)
c.1553A>C (p.Lys518Thr)
 dbSNP
10g.75028720A>GCA377292529DUSP29,KAT6Bc.3896A>G (p.Lys1299Arg)
c.3347A>G (p.Lys1116Arg)
c.3020A>G (p.Lys1007Arg)
c.2831A>G (p.Lys944Arg)
n.577-2126T>C
c.*3622-2126T>C (n.*3622-2126T>C)
c.3734A>G (p.Lys1245Arg)
c.2858A>G (p.Lys953Arg)
c.2207A>G (p.Lys736Arg)
c.1811A>G (p.Lys604Arg)
c.1553A>G (p.Lys518Arg)
 gnomAD v4
10g.75028720A>TCA377292528DUSP29,KAT6Bc.3896A>T (p.Lys1299Ile)
c.3347A>T (p.Lys1116Ile)
c.3020A>T (p.Lys1007Ile)
c.2831A>T (p.Lys944Ile)
n.577-2126T>A
c.*3622-2126T>A (n.*3622-2126T>A)
c.3734A>T (p.Lys1245Ile)
c.2858A>T (p.Lys953Ile)
c.2207A>T (p.Lys736Ile)
c.1811A>T (p.Lys604Ile)
c.1553A>T (p.Lys518Ile)
10g.75028721A>CCA377292530DUSP29,KAT6Bc.3897A>C (p.Lys1299Asn)
c.3348A>C (p.Lys1116Asn)
c.3021A>C (p.Lys1007Asn)
c.2832A>C (p.Lys944Asn)
n.577-2127T>G
c.*3622-2127T>G (n.*3622-2127T>G)
c.3735A>C (p.Lys1245Asn)
c.2859A>C (p.Lys953Asn)
c.2208A>C (p.Lys736Asn)
c.1812A>C (p.Lys604Asn)
c.1554A>C (p.Lys518Asn)
10g.75028721A>GCA470299589DUSP29,KAT6Bc.3897A>G (p.Lys1299=)
c.3348A>G (p.Lys1116=)
c.3021A>G (p.Lys1007=)
c.2832A>G (p.Lys944=)
n.577-2127T>C
c.*3622-2127T>C (n.*3622-2127T>C)
c.3735A>G (p.Lys1245=)
c.2859A>G (p.Lys953=)
c.2208A>G (p.Lys736=)
c.1812A>G (p.Lys604=)
c.1554A>G (p.Lys518=)
10g.75028721A>TCA377292531DUSP29,KAT6Bc.3897A>T (p.Lys1299Asn)
c.3348A>T (p.Lys1116Asn)
c.3021A>T (p.Lys1007Asn)
c.2832A>T (p.Lys944Asn)
n.577-2127T>A
c.*3622-2127T>A (n.*3622-2127T>A)
c.3735A>T (p.Lys1245Asn)
c.2859A>T (p.Lys953Asn)
c.2208A>T (p.Lys736Asn)
c.1812A>T (p.Lys604Asn)
c.1554A>T (p.Lys518Asn)
10g.75028722A=CA1920306436DUSP29,KAT6Bc.3898A= (p.Thr1300=)
c.3349A= (p.Thr1117=)
c.3022A= (p.Thr1008=)
c.2833A= (p.Thr945=)
n.577-2128T=
c.*3622-2128T= (n.*3622-2128T=)
c.3736A= (p.Thr1246=)
c.2860A= (p.Thr954=)
c.2209A= (p.Thr737=)
c.1813A= (p.Thr605=)
c.1555A= (p.Thr519=)
10g.75028722A>CCA377292532DUSP29,KAT6Bc.3898A>C (p.Thr1300Pro)
c.3349A>C (p.Thr1117Pro)
c.3022A>C (p.Thr1008Pro)
c.2833A>C (p.Thr945Pro)
n.577-2128T>G
c.*3622-2128T>G (n.*3622-2128T>G)
c.3736A>C (p.Thr1246Pro)
c.2860A>C (p.Thr954Pro)
c.2209A>C (p.Thr737Pro)
c.1813A>C (p.Thr605Pro)
c.1555A>C (p.Thr519Pro)
10g.75028722A>GCA377292533DUSP29,KAT6Bc.3898A>G (p.Thr1300Ala)
c.3349A>G (p.Thr1117Ala)
c.3022A>G (p.Thr1008Ala)
c.2833A>G (p.Thr945Ala)
n.577-2128T>C
c.*3622-2128T>C (n.*3622-2128T>C)
c.3736A>G (p.Thr1246Ala)
c.2860A>G (p.Thr954Ala)
c.2209A>G (p.Thr737Ala)
c.1813A>G (p.Thr605Ala)
c.1555A>G (p.Thr519Ala)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.75028722A>TCA377292534DUSP29,KAT6Bc.3898A>T (p.Thr1300Ser)
c.3349A>T (p.Thr1117Ser)
c.3022A>T (p.Thr1008Ser)
c.2833A>T (p.Thr945Ser)
n.577-2128T>A
c.*3622-2128T>A (n.*3622-2128T>A)
c.3736A>T (p.Thr1246Ser)
c.2860A>T (p.Thr954Ser)
c.2209A>T (p.Thr737Ser)
c.1813A>T (p.Thr605Ser)
c.1555A>T (p.Thr519Ser)
10g.75028723C>ACA377292535DUSP29,KAT6Bc.3899C>A (p.Thr1300Asn)
c.3350C>A (p.Thr1117Asn)
c.3023C>A (p.Thr1008Asn)
c.2834C>A (p.Thr945Asn)
n.577-2129G>T
c.*3622-2129G>T (n.*3622-2129G>T)
c.3737C>A (p.Thr1246Asn)
c.2861C>A (p.Thr954Asn)
c.2210C>A (p.Thr737Asn)
c.1814C>A (p.Thr605Asn)
c.1556C>A (p.Thr519Asn)
10g.75028723C=CA1920306437DUSP29,KAT6Bc.3899C= (p.Thr1300=)
c.3350C= (p.Thr1117=)
c.3023C= (p.Thr1008=)
c.2834C= (p.Thr945=)
n.577-2129G=
c.*3622-2129G= (n.*3622-2129G=)
c.3737C= (p.Thr1246=)
c.2861C= (p.Thr954=)
c.2210C= (p.Thr737=)
c.1814C= (p.Thr605=)
c.1556C= (p.Thr519=)
10g.75028723C>GCA377292536DUSP29,KAT6Bc.3899C>G (p.Thr1300Ser)
c.3350C>G (p.Thr1117Ser)
c.3023C>G (p.Thr1008Ser)
c.2834C>G (p.Thr945Ser)
n.577-2129G>C
c.*3622-2129G>C (n.*3622-2129G>C)
c.3737C>G (p.Thr1246Ser)
c.2861C>G (p.Thr954Ser)
c.2210C>G (p.Thr737Ser)
c.1814C>G (p.Thr605Ser)
c.1556C>G (p.Thr519Ser)
10g.75028723C>TCA377292537DUSP29,KAT6Bc.3899C>T (p.Thr1300Ile)
c.3350C>T (p.Thr1117Ile)
c.3023C>T (p.Thr1008Ile)
c.2834C>T (p.Thr945Ile)
n.577-2129G>A
c.*3622-2129G>A (n.*3622-2129G>A)
c.3737C>T (p.Thr1246Ile)
c.2861C>T (p.Thr954Ile)
c.2210C>T (p.Thr737Ile)
c.1814C>T (p.Thr605Ile)
c.1556C>T (p.Thr519Ile)
 dbSNP gnomAD v4
10g.75028724C>ACA470299592DUSP29,KAT6Bc.3900C>A (p.Thr1300=)
c.3351C>A (p.Thr1117=)
c.3024C>A (p.Thr1008=)
c.2835C>A (p.Thr945=)
n.577-2130G>T
c.*3622-2130G>T (n.*3622-2130G>T)
c.3738C>A (p.Thr1246=)
c.2862C>A (p.Thr954=)
c.2211C>A (p.Thr737=)
c.1815C>A (p.Thr605=)
c.1557C>A (p.Thr519=)
10g.75028724C=CA1920306438DUSP29,KAT6Bc.3900C= (p.Thr1300=)
c.3351C= (p.Thr1117=)
c.3024C= (p.Thr1008=)
c.2835C= (p.Thr945=)
n.577-2130G=
c.*3622-2130G= (n.*3622-2130G=)
c.3738C= (p.Thr1246=)
c.2862C= (p.Thr954=)
c.2211C= (p.Thr737=)
c.1815C= (p.Thr605=)
c.1557C= (p.Thr519=)
10g.75028724C>GCA5564920DUSP29,KAT6Bc.3900C>G (p.Thr1300=)
c.3351C>G (p.Thr1117=)
c.3024C>G (p.Thr1008=)
c.2835C>G (p.Thr945=)
n.577-2130G>C
c.*3622-2130G>C (n.*3622-2130G>C)
c.3738C>G (p.Thr1246=)
c.2862C>G (p.Thr954=)
c.2211C>G (p.Thr737=)
c.1815C>G (p.Thr605=)
c.1557C>G (p.Thr519=)
 ClinVar dbSNP ExAC gnomAD v3 gnomAD v4
10g.75028724C>TCA209709212DUSP29,KAT6Bc.3900C>T (p.Thr1300=)
c.3351C>T (p.Thr1117=)
c.3024C>T (p.Thr1008=)
c.2835C>T (p.Thr945=)
n.577-2130G>A
c.*3622-2130G>A (n.*3622-2130G>A)
c.3738C>T (p.Thr1246=)
c.2862C>T (p.Thr954=)
c.2211C>T (p.Thr737=)
c.1815C>T (p.Thr605=)
c.1557C>T (p.Thr519=)
 dbSNP gnomAD v4
10g.75028725A>CCA377292539DUSP29,KAT6Bc.3901A>C (p.Ser1301Arg)
c.3352A>C (p.Ser1118Arg)
c.3025A>C (p.Ser1009Arg)
c.2836A>C (p.Ser946Arg)
n.577-2131T>G
c.*3622-2131T>G (n.*3622-2131T>G)
c.3739A>C (p.Ser1247Arg)
c.2863A>C (p.Ser955Arg)
c.2212A>C (p.Ser738Arg)
c.1816A>C (p.Ser606Arg)
c.1558A>C (p.Ser520Arg)
10g.75028725A>GCA377292540DUSP29,KAT6Bc.3901A>G (p.Ser1301Gly)
c.3352A>G (p.Ser1118Gly)
c.3025A>G (p.Ser1009Gly)
c.2836A>G (p.Ser946Gly)
n.577-2131T>C
c.*3622-2131T>C (n.*3622-2131T>C)
c.3739A>G (p.Ser1247Gly)
c.2863A>G (p.Ser955Gly)
c.2212A>G (p.Ser738Gly)
c.1816A>G (p.Ser606Gly)
c.1558A>G (p.Ser520Gly)
10g.75028725A>TCA377292538DUSP29,KAT6Bc.3901A>T (p.Ser1301Cys)
c.3352A>T (p.Ser1118Cys)
c.3025A>T (p.Ser1009Cys)
c.2836A>T (p.Ser946Cys)
n.577-2131T>A
c.*3622-2131T>A (n.*3622-2131T>A)
c.3739A>T (p.Ser1247Cys)
c.2863A>T (p.Ser955Cys)
c.2212A>T (p.Ser738Cys)
c.1816A>T (p.Ser606Cys)
c.1558A>T (p.Ser520Cys)
10g.75028726G>ACA377292541DUSP29,KAT6Bc.3902G>A (p.Ser1301Asn)
c.3353G>A (p.Ser1118Asn)
c.3026G>A (p.Ser1009Asn)
c.2837G>A (p.Ser946Asn)
n.577-2132C>T
c.*3622-2132C>T (n.*3622-2132C>T)
c.3740G>A (p.Ser1247Asn)
c.2864G>A (p.Ser955Asn)
c.2213G>A (p.Ser738Asn)
c.1817G>A (p.Ser606Asn)
c.1559G>A (p.Ser520Asn)
10g.75028726G>CCA377292542DUSP29,KAT6Bc.3902G>C (p.Ser1301Thr)
c.3353G>C (p.Ser1118Thr)
c.3026G>C (p.Ser1009Thr)
c.2837G>C (p.Ser946Thr)
n.577-2132C>G
c.*3622-2132C>G (n.*3622-2132C>G)
c.3740G>C (p.Ser1247Thr)
c.2864G>C (p.Ser955Thr)
c.2213G>C (p.Ser738Thr)
c.1817G>C (p.Ser606Thr)
c.1559G>C (p.Ser520Thr)
10g.75028726G>TCA377292543DUSP29,KAT6Bc.3902G>T (p.Ser1301Ile)
c.3353G>T (p.Ser1118Ile)
c.3026G>T (p.Ser1009Ile)
c.2837G>T (p.Ser946Ile)
n.577-2132C>A
c.*3622-2132C>A (n.*3622-2132C>A)
c.3740G>T (p.Ser1247Ile)
c.2864G>T (p.Ser955Ile)
c.2213G>T (p.Ser738Ile)
c.1817G>T (p.Ser606Ile)
c.1559G>T (p.Ser520Ile)
10g.75028726_75028729delCA2566138389DUSP29,KAT6Bc.3902_3905del (p.Ser1301ThrfsTer?)
c.3353_3356del (p.Ser1118ThrfsTer?)
c.3026_3029del (p.Ser1009ThrfsTer?)
c.2837_2840del (p.Ser946ThrfsTer?)
n.577-2135_577-2132del
c.*3622-2135_*3622-2132del (n.*3622-2135_*3622-2132del)
c.3740_3743del (p.Ser1247ThrfsTer?)
c.2864_2867del (p.Ser955ThrfsTer?)
c.2213_2216del (p.Ser738ThrfsTer?)
c.1817_1820del (p.Ser606ThrfsTer?)
c.1559_1562del (p.Ser520ThrfsTer?)
10g.75028726_75028727insACTTGGTTTATAACACAATATTATTACACATTAGCCTTGATTATGTCA2609745697DUSP29,KAT6Bc.3902_3903insACTTGGTTTATAACACAATATTATTACACATTAGCCTTGATTATGT (p.Ser1301ArgfsTer5)
c.3353_3354insACTTGGTTTATAACACAATATTATTACACATTAGCCTTGATTATGT (p.Ser1118ArgfsTer5)
c.3026_3027insACTTGGTTTATAACACAATATTATTACACATTAGCCTTGATTATGT (p.Ser1009ArgfsTer5)
c.2837_2838insACTTGGTTTATAACACAATATTATTACACATTAGCCTTGATTATGT (p.Ser946ArgfsTer5)
n.577-2133_577-2132insACATAATCAAGGCTAATGTGTAATAATATTGTGTTATAAACCAAGT
c.*3622-2133_*3622-2132insACATAATCAAGGCTAATGTGTAATAATATTGTGTTATAAACCAAGT (n.*3622-2133_*3622-2132insACATAATCAAGGCTAATGTGTAATAATATTGTGTTATAAACCAAGT)
c.3740_3741insACTTGGTTTATAACACAATATTATTACACATTAGCCTTGATTATGT (p.Ser1247ArgfsTer5)
c.2864_2865insACTTGGTTTATAACACAATATTATTACACATTAGCCTTGATTATGT (p.Ser955ArgfsTer5)
c.2213_2214insACTTGGTTTATAACACAATATTATTACACATTAGCCTTGATTATGT (p.Ser738ArgfsTer5)
c.1817_1818insACTTGGTTTATAACACAATATTATTACACATTAGCCTTGATTATGT (p.Ser606ArgfsTer5)
c.1559_1560insACTTGGTTTATAACACAATATTATTACACATTAGCCTTGATTATGT (p.Ser520ArgfsTer5)
 gnomAD v4
10g.75028727C>ACA377292544DUSP29,KAT6Bc.3903C>A (p.Ser1301Arg)
c.3354C>A (p.Ser1118Arg)
c.3027C>A (p.Ser1009Arg)
c.2838C>A (p.Ser946Arg)
n.577-2133G>T
c.*3622-2133G>T (n.*3622-2133G>T)
c.3741C>A (p.Ser1247Arg)
c.2865C>A (p.Ser955Arg)
c.2214C>A (p.Ser738Arg)
c.1818C>A (p.Ser606Arg)
c.1560C>A (p.Ser520Arg)
10g.75028727C>GCA377292545DUSP29,KAT6Bc.3903C>G (p.Ser1301Arg)
c.3354C>G (p.Ser1118Arg)
c.3027C>G (p.Ser1009Arg)
c.2838C>G (p.Ser946Arg)
n.577-2133G>C
c.*3622-2133G>C (n.*3622-2133G>C)
c.3741C>G (p.Ser1247Arg)
c.2865C>G (p.Ser955Arg)
c.2214C>G (p.Ser738Arg)
c.1818C>G (p.Ser606Arg)
c.1560C>G (p.Ser520Arg)
10g.75028727C>TCA470299596DUSP29,KAT6Bc.3903C>T (p.Ser1301=)
c.3354C>T (p.Ser1118=)
c.3027C>T (p.Ser1009=)
c.2838C>T (p.Ser946=)
n.577-2133G>A
c.*3622-2133G>A (n.*3622-2133G>A)
c.3741C>T (p.Ser1247=)
c.2865C>T (p.Ser955=)
c.2214C>T (p.Ser738=)
c.1818C>T (p.Ser606=)
c.1560C>T (p.Ser520=)
 gnomAD v4
10g.75028730delCA2499220380DUSP29,KAT6Bc.3906del (p.Ser1303ValfsTer?)
c.3357del (p.Ser1120ValfsTer?)
c.3030del (p.Ser1011ValfsTer?)
c.2841del (p.Ser948ValfsTer?)
n.577-2133del
c.*3622-2133del (n.*3622-2133del)
c.3744del (p.Ser1249ValfsTer?)
c.2868del (p.Ser957ValfsTer?)
c.2217del (p.Ser740ValfsTer?)
c.1821del (p.Ser608ValfsTer?)
c.1563del (p.Ser522ValfsTer?)
 ClinVar dbSNP
10g.75028728C>ACA377292548DUSP29,KAT6Bc.3904C>A (p.Pro1302Thr)
c.3355C>A (p.Pro1119Thr)
c.3028C>A (p.Pro1010Thr)
c.2839C>A (p.Pro947Thr)
n.577-2134G>T
c.*3622-2134G>T (n.*3622-2134G>T)
c.3742C>A (p.Pro1248Thr)
c.2866C>A (p.Pro956Thr)
c.2215C>A (p.Pro739Thr)
c.1819C>A (p.Pro607Thr)
c.1561C>A (p.Pro521Thr)
10g.75028728C>GCA377292547DUSP29,KAT6Bc.3904C>G (p.Pro1302Ala)
c.3355C>G (p.Pro1119Ala)
c.3028C>G (p.Pro1010Ala)
c.2839C>G (p.Pro947Ala)
n.577-2134G>C
c.*3622-2134G>C (n.*3622-2134G>C)
c.3742C>G (p.Pro1248Ala)
c.2866C>G (p.Pro956Ala)
c.2215C>G (p.Pro739Ala)
c.1819C>G (p.Pro607Ala)
c.1561C>G (p.Pro521Ala)
10g.75028728C>TCA377292546DUSP29,KAT6Bc.3904C>T (p.Pro1302Ser)
c.3355C>T (p.Pro1119Ser)
c.3028C>T (p.Pro1010Ser)
c.2839C>T (p.Pro947Ser)
n.577-2134G>A
c.*3622-2134G>A (n.*3622-2134G>A)
c.3742C>T (p.Pro1248Ser)
c.2866C>T (p.Pro956Ser)
c.2215C>T (p.Pro739Ser)
c.1819C>T (p.Pro607Ser)
c.1561C>T (p.Pro521Ser)
10g.75028729C>ACA377292549DUSP29,KAT6Bc.3905C>A (p.Pro1302His)
c.3356C>A (p.Pro1119His)
c.3029C>A (p.Pro1010His)
c.2840C>A (p.Pro947His)
n.577-2135G>T
c.*3622-2135G>T (n.*3622-2135G>T)
c.3743C>A (p.Pro1248His)
c.2867C>A (p.Pro956His)
c.2216C>A (p.Pro739His)
c.1820C>A (p.Pro607His)
c.1562C>A (p.Pro521His)
10g.75028729C>GCA377292550DUSP29,KAT6Bc.3905C>G (p.Pro1302Arg)
c.3356C>G (p.Pro1119Arg)
c.3029C>G (p.Pro1010Arg)
c.2840C>G (p.Pro947Arg)
n.577-2135G>C
c.*3622-2135G>C (n.*3622-2135G>C)
c.3743C>G (p.Pro1248Arg)
c.2867C>G (p.Pro956Arg)
c.2216C>G (p.Pro739Arg)
c.1820C>G (p.Pro607Arg)
c.1562C>G (p.Pro521Arg)
10g.75028729C>TCA377292551DUSP29,KAT6Bc.3905C>T (p.Pro1302Leu)
c.3356C>T (p.Pro1119Leu)
c.3029C>T (p.Pro1010Leu)
c.2840C>T (p.Pro947Leu)
n.577-2135G>A
c.*3622-2135G>A (n.*3622-2135G>A)
c.3743C>T (p.Pro1248Leu)
c.2867C>T (p.Pro956Leu)
c.2216C>T (p.Pro739Leu)
c.1820C>T (p.Pro607Leu)
c.1562C>T (p.Pro521Leu)
 gnomAD v4
10g.75028730C>ACA470299598DUSP29,KAT6Bc.3906C>A (p.Pro1302=)
c.3357C>A (p.Pro1119=)
c.3030C>A (p.Pro1010=)
c.2841C>A (p.Pro947=)
n.577-2136G>T
c.*3622-2136G>T (n.*3622-2136G>T)
c.3744C>A (p.Pro1248=)
c.2868C>A (p.Pro956=)
c.2217C>A (p.Pro739=)
c.1821C>A (p.Pro607=)
c.1563C>A (p.Pro521=)
10g.75028730C>GCA470299599DUSP29,KAT6Bc.3906C>G (p.Pro1302=)
c.3357C>G (p.Pro1119=)
c.3030C>G (p.Pro1010=)
c.2841C>G (p.Pro947=)
n.577-2136G>C
c.*3622-2136G>C (n.*3622-2136G>C)
c.3744C>G (p.Pro1248=)
c.2868C>G (p.Pro956=)
c.2217C>G (p.Pro739=)
c.1821C>G (p.Pro607=)
c.1563C>G (p.Pro521=)
10g.75028730C>TCA470299600DUSP29,KAT6Bc.3906C>T (p.Pro1302=)
c.3357C>T (p.Pro1119=)
c.3030C>T (p.Pro1010=)
c.2841C>T (p.Pro947=)
n.577-2136G>A
c.*3622-2136G>A (n.*3622-2136G>A)
c.3744C>T (p.Pro1248=)
c.2868C>T (p.Pro956=)
c.2217C>T (p.Pro739=)
c.1821C>T (p.Pro607=)
c.1563C>T (p.Pro521=)
10g.75028731A=CA1920306439DUSP29,KAT6Bc.3907A= (p.Ser1303=)
c.3358A= (p.Ser1120=)
c.3031A= (p.Ser1011=)
c.2842A= (p.Ser948=)
n.577-2137T=
c.*3622-2137T= (n.*3622-2137T=)
c.3745A= (p.Ser1249=)
c.2869A= (p.Ser957=)
c.2218A= (p.Ser740=)
c.1822A= (p.Ser608=)
c.1564A= (p.Ser522=)
10g.75028731A>CCA377292552DUSP29,KAT6Bc.3907A>C (p.Ser1303Arg)
c.3358A>C (p.Ser1120Arg)
c.3031A>C (p.Ser1011Arg)
c.2842A>C (p.Ser948Arg)
n.577-2137T>G
c.*3622-2137T>G (n.*3622-2137T>G)
c.3745A>C (p.Ser1249Arg)
c.2869A>C (p.Ser957Arg)
c.2218A>C (p.Ser740Arg)
c.1822A>C (p.Ser608Arg)
c.1564A>C (p.Ser522Arg)
10g.75028731A>GCA16603211DUSP29,KAT6Bc.3907A>G (p.Ser1303Gly)
c.3358A>G (p.Ser1120Gly)
c.3031A>G (p.Ser1011Gly)
c.2842A>G (p.Ser948Gly)
n.577-2137T>C
c.*3622-2137T>C (n.*3622-2137T>C)
c.3745A>G (p.Ser1249Gly)
c.2869A>G (p.Ser957Gly)
c.2218A>G (p.Ser740Gly)
c.1822A>G (p.Ser608Gly)
c.1564A>G (p.Ser522Gly)
 ClinVar dbSNP gnomAD v4
10g.75028731A>TCA377292553DUSP29,KAT6Bc.3907A>T (p.Ser1303Cys)
c.3358A>T (p.Ser1120Cys)
c.3031A>T (p.Ser1011Cys)
c.2842A>T (p.Ser948Cys)
n.577-2137T>A
c.*3622-2137T>A (n.*3622-2137T>A)
c.3745A>T (p.Ser1249Cys)
c.2869A>T (p.Ser957Cys)
c.2218A>T (p.Ser740Cys)
c.1822A>T (p.Ser608Cys)
c.1564A>T (p.Ser522Cys)
10g.75028732G>ACA5564921DUSP29,KAT6Bc.3908G>A (p.Ser1303Asn)
c.3359G>A (p.Ser1120Asn)
c.3032G>A (p.Ser1011Asn)
c.2843G>A (p.Ser948Asn)
n.577-2138C>T
c.*3622-2138C>T (n.*3622-2138C>T)
c.3746G>A (p.Ser1249Asn)
c.2870G>A (p.Ser957Asn)
c.2219G>A (p.Ser740Asn)
c.1823G>A (p.Ser608Asn)
c.1565G>A (p.Ser522Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.75028732G>CCA377292555DUSP29,KAT6Bc.3908G>C (p.Ser1303Thr)
c.3359G>C (p.Ser1120Thr)
c.3032G>C (p.Ser1011Thr)
c.2843G>C (p.Ser948Thr)
n.577-2138C>G
c.*3622-2138C>G (n.*3622-2138C>G)
c.3746G>C (p.Ser1249Thr)
c.2870G>C (p.Ser957Thr)
c.2219G>C (p.Ser740Thr)
c.1823G>C (p.Ser608Thr)
c.1565G>C (p.Ser522Thr)
10g.75028732G=CA1920306440DUSP29,KAT6Bc.3908G= (p.Ser1303=)
c.3359G= (p.Ser1120=)
c.3032G= (p.Ser1011=)
c.2843G= (p.Ser948=)
n.577-2138C=
c.*3622-2138C= (n.*3622-2138C=)
c.3746G= (p.Ser1249=)
c.2870G= (p.Ser957=)
c.2219G= (p.Ser740=)
c.1823G= (p.Ser608=)
c.1565G= (p.Ser522=)
10g.75028732G>TCA377292554DUSP29,KAT6Bc.3908G>T (p.Ser1303Ile)
c.3359G>T (p.Ser1120Ile)
c.3032G>T (p.Ser1011Ile)
c.2843G>T (p.Ser948Ile)
n.577-2138C>A
c.*3622-2138C>A (n.*3622-2138C>A)
c.3746G>T (p.Ser1249Ile)
c.2870G>T (p.Ser957Ile)
c.2219G>T (p.Ser740Ile)
c.1823G>T (p.Ser608Ile)
c.1565G>T (p.Ser522Ile)
10g.75028733T>ACA377292556DUSP29,KAT6Bc.3909T>A (p.Ser1303Arg)
c.3360T>A (p.Ser1120Arg)
c.3033T>A (p.Ser1011Arg)
c.2844T>A (p.Ser948Arg)
n.577-2139A>T
c.*3622-2139A>T (n.*3622-2139A>T)
c.3747T>A (p.Ser1249Arg)
c.2871T>A (p.Ser957Arg)
c.2220T>A (p.Ser740Arg)
c.1824T>A (p.Ser608Arg)
c.1566T>A (p.Ser522Arg)
10g.75028733T>CCA470299604DUSP29,KAT6Bc.3909T>C (p.Ser1303=)
c.3360T>C (p.Ser1120=)
c.3033T>C (p.Ser1011=)
c.2844T>C (p.Ser948=)
n.577-2139A>G
c.*3622-2139A>G (n.*3622-2139A>G)
c.3747T>C (p.Ser1249=)
c.2871T>C (p.Ser957=)
c.2220T>C (p.Ser740=)
c.1824T>C (p.Ser608=)
c.1566T>C (p.Ser522=)
10g.75028733T>GCA377292557DUSP29,KAT6Bc.3909T>G (p.Ser1303Arg)
c.3360T>G (p.Ser1120Arg)
c.3033T>G (p.Ser1011Arg)
c.2844T>G (p.Ser948Arg)
n.577-2139A>C
c.*3622-2139A>C (n.*3622-2139A>C)
c.3747T>G (p.Ser1249Arg)
c.2871T>G (p.Ser957Arg)
c.2220T>G (p.Ser740Arg)
c.1824T>G (p.Ser608Arg)
c.1566T>G (p.Ser522Arg)
10g.75028734C>ACA377292558DUSP29,KAT6Bc.3910C>A (p.Pro1304Thr)
c.3361C>A (p.Pro1121Thr)
c.3034C>A (p.Pro1012Thr)
c.2845C>A (p.Pro949Thr)
n.577-2140G>T
c.*3622-2140G>T (n.*3622-2140G>T)
c.3748C>A (p.Pro1250Thr)
c.2872C>A (p.Pro958Thr)
c.2221C>A (p.Pro741Thr)
c.1825C>A (p.Pro609Thr)
c.1567C>A (p.Pro523Thr)
10g.75028734C>GCA377292559DUSP29,KAT6Bc.3910C>G (p.Pro1304Ala)
c.3361C>G (p.Pro1121Ala)
c.3034C>G (p.Pro1012Ala)
c.2845C>G (p.Pro949Ala)
n.577-2140G>C
c.*3622-2140G>C (n.*3622-2140G>C)
c.3748C>G (p.Pro1250Ala)
c.2872C>G (p.Pro958Ala)
c.2221C>G (p.Pro741Ala)
c.1825C>G (p.Pro609Ala)
c.1567C>G (p.Pro523Ala)
10g.75028734C>TCA377292560DUSP29,KAT6Bc.3910C>T (p.Pro1304Ser)
c.3361C>T (p.Pro1121Ser)
c.3034C>T (p.Pro1012Ser)
c.2845C>T (p.Pro949Ser)
n.577-2140G>A
c.*3622-2140G>A (n.*3622-2140G>A)
c.3748C>T (p.Pro1250Ser)
c.2872C>T (p.Pro958Ser)
c.2221C>T (p.Pro741Ser)
c.1825C>T (p.Pro609Ser)
c.1567C>T (p.Pro523Ser)
 gnomAD v4 COSMIC
10g.75028735C>ACA377292561DUSP29,KAT6Bc.3911C>A (p.Pro1304His)
c.3362C>A (p.Pro1121His)
c.3035C>A (p.Pro1012His)
c.2846C>A (p.Pro949His)
n.577-2141G>T
c.*3622-2141G>T (n.*3622-2141G>T)
c.3749C>A (p.Pro1250His)
c.2873C>A (p.Pro958His)
c.2222C>A (p.Pro741His)
c.1826C>A (p.Pro609His)
c.1568C>A (p.Pro523His)
10g.75028735C>GCA377292562DUSP29,KAT6Bc.3911C>G (p.Pro1304Arg)
c.3362C>G (p.Pro1121Arg)
c.3035C>G (p.Pro1012Arg)
c.2846C>G (p.Pro949Arg)
n.577-2141G>C
c.*3622-2141G>C (n.*3622-2141G>C)
c.3749C>G (p.Pro1250Arg)
c.2873C>G (p.Pro958Arg)
c.2222C>G (p.Pro741Arg)
c.1826C>G (p.Pro609Arg)
c.1568C>G (p.Pro523Arg)
10g.75028735C>TCA377292563DUSP29,KAT6Bc.3911C>T (p.Pro1304Leu)
c.3362C>T (p.Pro1121Leu)
c.3035C>T (p.Pro1012Leu)
c.2846C>T (p.Pro949Leu)
n.577-2141G>A
c.*3622-2141G>A (n.*3622-2141G>A)
c.3749C>T (p.Pro1250Leu)
c.2873C>T (p.Pro958Leu)
c.2222C>T (p.Pro741Leu)
c.1826C>T (p.Pro609Leu)
c.1568C>T (p.Pro523Leu)
10g.75028736C>ACA470299608DUSP29,KAT6Bc.3912C>A (p.Pro1304=)
c.3363C>A (p.Pro1121=)
c.3036C>A (p.Pro1012=)
c.2847C>A (p.Pro949=)
n.577-2142G>T
c.*3622-2142G>T (n.*3622-2142G>T)
c.3750C>A (p.Pro1250=)
c.2874C>A (p.Pro958=)
c.2223C>A (p.Pro741=)
c.1827C>A (p.Pro609=)
c.1569C>A (p.Pro523=)
10g.75028736C>GCA470299609DUSP29,KAT6Bc.3912C>G (p.Pro1304=)
c.3363C>G (p.Pro1121=)
c.3036C>G (p.Pro1012=)
c.2847C>G (p.Pro949=)
n.577-2142G>C
c.*3622-2142G>C (n.*3622-2142G>C)
c.3750C>G (p.Pro1250=)
c.2874C>G (p.Pro958=)
c.2223C>G (p.Pro741=)
c.1827C>G (p.Pro609=)
c.1569C>G (p.Pro523=)
 COSMIC
10g.75028736C>TCA470299610DUSP29,KAT6Bc.3912C>T (p.Pro1304=)
c.3363C>T (p.Pro1121=)
c.3036C>T (p.Pro1012=)
c.2847C>T (p.Pro949=)
n.577-2142G>A
c.*3622-2142G>A (n.*3622-2142G>A)
c.3750C>T (p.Pro1250=)
c.2874C>T (p.Pro958=)
c.2223C>T (p.Pro741=)
c.1827C>T (p.Pro609=)
c.1569C>T (p.Pro523=)
 gnomAD v4
10g.75028737A>CCA377292564DUSP29,KAT6Bc.3913A>C (p.Ile1305Leu)
c.3364A>C (p.Ile1122Leu)
c.3037A>C (p.Ile1013Leu)
c.2848A>C (p.Ile950Leu)
n.577-2143T>G
c.*3622-2143T>G (n.*3622-2143T>G)
c.3751A>C (p.Ile1251Leu)
c.2875A>C (p.Ile959Leu)
c.2224A>C (p.Ile742Leu)
c.1828A>C (p.Ile610Leu)
c.1570A>C (p.Ile524Leu)
10g.75028737A>GCA377292565DUSP29,KAT6Bc.3913A>G (p.Ile1305Val)
c.3364A>G (p.Ile1122Val)
c.3037A>G (p.Ile1013Val)
c.2848A>G (p.Ile950Val)
n.577-2143T>C
c.*3622-2143T>C (n.*3622-2143T>C)
c.3751A>G (p.Ile1251Val)
c.2875A>G (p.Ile959Val)
c.2224A>G (p.Ile742Val)
c.1828A>G (p.Ile610Val)
c.1570A>G (p.Ile524Val)
10g.75028737A>TCA377292566DUSP29,KAT6Bc.3913A>T (p.Ile1305Phe)
c.3364A>T (p.Ile1122Phe)
c.3037A>T (p.Ile1013Phe)
c.2848A>T (p.Ile950Phe)
n.577-2143T>A
c.*3622-2143T>A (n.*3622-2143T>A)
c.3751A>T (p.Ile1251Phe)
c.2875A>T (p.Ile959Phe)
c.2224A>T (p.Ile742Phe)
c.1828A>T (p.Ile610Phe)
c.1570A>T (p.Ile524Phe)
10g.75028738T>ACA377292568DUSP29,KAT6Bc.3914T>A (p.Ile1305Asn)
c.3365T>A (p.Ile1122Asn)
c.3038T>A (p.Ile1013Asn)
c.2849T>A (p.Ile950Asn)
n.577-2144A>T
c.*3622-2144A>T (n.*3622-2144A>T)
c.3752T>A (p.Ile1251Asn)
c.2876T>A (p.Ile959Asn)
c.2225T>A (p.Ile742Asn)
c.1829T>A (p.Ile610Asn)
c.1571T>A (p.Ile524Asn)
10g.75028738T>CCA5564922DUSP29,KAT6Bc.3914T>C (p.Ile1305Thr)
c.3365T>C (p.Ile1122Thr)
c.3038T>C (p.Ile1013Thr)
c.2849T>C (p.Ile950Thr)
n.577-2144A>G
c.*3622-2144A>G (n.*3622-2144A>G)
c.3752T>C (p.Ile1251Thr)
c.2876T>C (p.Ile959Thr)
c.2225T>C (p.Ile742Thr)
c.1829T>C (p.Ile610Thr)
c.1571T>C (p.Ile524Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.75028738T>GCA377292567DUSP29,KAT6Bc.3914T>G (p.Ile1305Ser)
c.3365T>G (p.Ile1122Ser)
c.3038T>G (p.Ile1013Ser)
c.2849T>G (p.Ile950Ser)
n.577-2144A>C
c.*3622-2144A>C (n.*3622-2144A>C)
c.3752T>G (p.Ile1251Ser)
c.2876T>G (p.Ile959Ser)
c.2225T>G (p.Ile742Ser)
c.1829T>G (p.Ile610Ser)
c.1571T>G (p.Ile524Ser)
10g.75028738T=CA1920306441DUSP29,KAT6Bc.3914T= (p.Ile1305=)
c.3365T= (p.Ile1122=)
c.3038T= (p.Ile1013=)
c.2849T= (p.Ile950=)
n.577-2144A=
c.*3622-2144A= (n.*3622-2144A=)
c.3752T= (p.Ile1251=)
c.2876T= (p.Ile959=)
c.2225T= (p.Ile742=)
c.1829T= (p.Ile610=)
c.1571T= (p.Ile524=)
10g.75028739C>ACA470299612DUSP29,KAT6Bc.3915C>A (p.Ile1305=)
c.3366C>A (p.Ile1122=)
c.3039C>A (p.Ile1013=)
c.2850C>A (p.Ile950=)
n.577-2145G>T
c.*3622-2145G>T (n.*3622-2145G>T)
c.3753C>A (p.Ile1251=)
c.2877C>A (p.Ile959=)
c.2226C>A (p.Ile742=)
c.1830C>A (p.Ile610=)
c.1572C>A (p.Ile524=)
10g.75028739C>GCA377292569DUSP29,KAT6Bc.3915C>G (p.Ile1305Met)
c.3366C>G (p.Ile1122Met)
c.3039C>G (p.Ile1013Met)
c.2850C>G (p.Ile950Met)
n.577-2145G>C
c.*3622-2145G>C (n.*3622-2145G>C)
c.3753C>G (p.Ile1251Met)
c.2877C>G (p.Ile959Met)
c.2226C>G (p.Ile742Met)
c.1830C>G (p.Ile610Met)
c.1572C>G (p.Ile524Met)
10g.75028739C>TCA470299613DUSP29,KAT6Bc.3915C>T (p.Ile1305=)
c.3366C>T (p.Ile1122=)
c.3039C>T (p.Ile1013=)
c.2850C>T (p.Ile950=)
n.577-2145G>A
c.*3622-2145G>A (n.*3622-2145G>A)
c.3753C>T (p.Ile1251=)
c.2877C>T (p.Ile959=)
c.2226C>T (p.Ile742=)
c.1830C>T (p.Ile610=)
c.1572C>T (p.Ile524=)
10g.75028739dupCA2695212200DUSP29,KAT6Bc.3915dup (p.Arg1306GlnfsTer3)
c.3366dup (p.Arg1123GlnfsTer3)
c.3039dup (p.Arg1014GlnfsTer3)
c.2850dup (p.Arg951GlnfsTer3)
n.577-2145dup
c.*3622-2145dup (n.*3622-2145dup)
c.3753dup (p.Arg1252GlnfsTer3)
c.2877dup (p.Arg960GlnfsTer3)
c.2226dup (p.Arg743GlnfsTer3)
c.1830dup (p.Arg611GlnfsTer3)
c.1572dup (p.Arg525GlnfsTer3)
10g.75028742_75028743insCAACAGGCA2695212199DUSP29,KAT6Bc.3918_3919insCAACAGG (p.Ile1307GlnfsTer4)
c.3369_3370insCAACAGG (p.Ile1124GlnfsTer4)
c.3042_3043insCAACAGG (p.Ile1015GlnfsTer4)
c.2853_2854insCAACAGG (p.Ile952GlnfsTer4)
n.577-2145_577-2144insTTGCCTG
c.*3622-2145_*3622-2144insTTGCCTG (n.*3622-2145_*3622-2144insTTGCCTG)
c.3756_3757insCAACAGG (p.Ile1253GlnfsTer4)
c.2880_2881insCAACAGG (p.Ile961GlnfsTer4)
c.2229_2230insCAACAGG (p.Ile744GlnfsTer4)
c.1833_1834insCAACAGG (p.Ile612GlnfsTer4)
c.1575_1576insCAACAGG (p.Ile526GlnfsTer4)
10g.75028740A=CA1920306443DUSP29,KAT6Bc.3916A= (p.Arg1306=)
c.3367A= (p.Arg1123=)
c.3040A= (p.Arg1014=)
c.2851A= (p.Arg951=)
n.577-2146T=
c.*3622-2146T= (n.*3622-2146T=)
c.3754A= (p.Arg1252=)
c.2878A= (p.Arg960=)
c.2227A= (p.Arg743=)
c.1831A= (p.Arg611=)
c.1573A= (p.Arg525=)
10g.75028740A>CCA470299616DUSP29,KAT6Bc.3916A>C (p.Arg1306=)
c.3367A>C (p.Arg1123=)
c.3040A>C (p.Arg1014=)
c.2851A>C (p.Arg951=)
n.577-2146T>G
c.*3622-2146T>G (n.*3622-2146T>G)
c.3754A>C (p.Arg1252=)
c.2878A>C (p.Arg960=)
c.2227A>C (p.Arg743=)
c.1831A>C (p.Arg611=)
c.1573A>C (p.Arg525=)
10g.75028740A>GCA377292571DUSP29,KAT6Bc.3916A>G (p.Arg1306Gly)
c.3367A>G (p.Arg1123Gly)
c.3040A>G (p.Arg1014Gly)
c.2851A>G (p.Arg951Gly)
n.577-2146T>C
c.*3622-2146T>C (n.*3622-2146T>C)
c.3754A>G (p.Arg1252Gly)
c.2878A>G (p.Arg960Gly)
c.2227A>G (p.Arg743Gly)
c.1831A>G (p.Arg611Gly)
c.1573A>G (p.Arg525Gly)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.75028740A>TCA377292570DUSP29,KAT6Bc.3916A>T (p.Arg1306Trp)
c.3367A>T (p.Arg1123Trp)
c.3040A>T (p.Arg1014Trp)
c.2851A>T (p.Arg951Trp)
n.577-2146T>A
c.*3622-2146T>A (n.*3622-2146T>A)
c.3754A>T (p.Arg1252Trp)
c.2878A>T (p.Arg960Trp)
c.2227A>T (p.Arg743Trp)
c.1831A>T (p.Arg611Trp)
c.1573A>T (p.Arg525Trp)
 COSMIC
10g.75028740_75028741delinsAGCA1920306442DUSP29,KAT6Bc.3916_3917delinsAG (p.Arg1306=)
c.3367_3368delinsAG (p.Arg1123=)
c.3040_3041delinsAG (p.Arg1014=)
c.2851_2852delinsAG (p.Arg951=)
n.577-2147_577-2146delinsCT
c.*3622-2147_*3622-2146delinsCT (n.*3622-2147_*3622-2146delinsCT)
c.3754_3755delinsAG (p.Arg1252=)
c.2878_2879delinsAG (p.Arg960=)
c.2227_2228delinsAG (p.Arg743=)
c.1831_1832delinsAG (p.Arg611=)
c.1573_1574delinsAG (p.Arg525=)
10g.75028741G>ACA377292574DUSP29,KAT6Bc.3917G>A (p.Arg1306Lys)
c.3368G>A (p.Arg1123Lys)
c.3041G>A (p.Arg1014Lys)
c.2852G>A (p.Arg951Lys)
n.577-2147C>T
c.*3622-2147C>T (n.*3622-2147C>T)
c.3755G>A (p.Arg1252Lys)
c.2879G>A (p.Arg960Lys)
c.2228G>A (p.Arg743Lys)
c.1832G>A (p.Arg611Lys)
c.1574G>A (p.Arg525Lys)
10g.75028741G>CCA377292572DUSP29,KAT6Bc.3917G>C (p.Arg1306Thr)
c.3368G>C (p.Arg1123Thr)
c.3041G>C (p.Arg1014Thr)
c.2852G>C (p.Arg951Thr)
n.577-2147C>G
c.*3622-2147C>G (n.*3622-2147C>G)
c.3755G>C (p.Arg1252Thr)
c.2879G>C (p.Arg960Thr)
c.2228G>C (p.Arg743Thr)
c.1832G>C (p.Arg611Thr)
c.1574G>C (p.Arg525Thr)
10g.75028741G>TCA377292573DUSP29,KAT6Bc.3917G>T (p.Arg1306Met)
c.3368G>T (p.Arg1123Met)
c.3041G>T (p.Arg1014Met)
c.2852G>T (p.Arg951Met)
n.577-2147C>A
c.*3622-2147C>A (n.*3622-2147C>A)
c.3755G>T (p.Arg1252Met)
c.2879G>T (p.Arg960Met)
c.2228G>T (p.Arg743Met)
c.1832G>T (p.Arg611Met)
c.1574G>T (p.Arg525Met)
10g.75028742delCA10603153DUSP29,KAT6Bc.3918del (p.Ile1307LeufsTer27)
c.3369del (p.Ile1124LeufsTer27)
c.3042del (p.Ile1015LeufsTer27)
c.2853del (p.Ile952LeufsTer27)
n.577-2147del
c.*3622-2147del (n.*3622-2147del)
c.3756del (p.Ile1253LeufsTer27)
c.2880del (p.Ile961LeufsTer27)
c.2229del (p.Ile744LeufsTer27)
c.1833del (p.Ile612LeufsTer27)
c.1575del (p.Ile526LeufsTer27)
 ClinVar dbSNP
10g.75028742G>ACA470299618DUSP29,KAT6Bc.3918G>A (p.Arg1306=)
c.3369G>A (p.Arg1123=)
c.3042G>A (p.Arg1014=)
c.2853G>A (p.Arg951=)
n.577-2148C>T
c.*3622-2148C>T (n.*3622-2148C>T)
c.3756G>A (p.Arg1252=)
c.2880G>A (p.Arg960=)
c.2229G>A (p.Arg743=)
c.1833G>A (p.Arg611=)
c.1575G>A (p.Arg525=)
 ClinVar
10g.75028742G>CCA377292575DUSP29,KAT6Bc.3918G>C (p.Arg1306Ser)
c.3369G>C (p.Arg1123Ser)
c.3042G>C (p.Arg1014Ser)
c.2853G>C (p.Arg951Ser)
n.577-2148C>G
c.*3622-2148C>G (n.*3622-2148C>G)
c.3756G>C (p.Arg1252Ser)
c.2880G>C (p.Arg960Ser)
c.2229G>C (p.Arg743Ser)
c.1833G>C (p.Arg611Ser)
c.1575G>C (p.Arg525Ser)
10g.75028742G>TCA377292576DUSP29,KAT6Bc.3918G>T (p.Arg1306Ser)
c.3369G>T (p.Arg1123Ser)
c.3042G>T (p.Arg1014Ser)
c.2853G>T (p.Arg951Ser)
n.577-2148C>A
c.*3622-2148C>A (n.*3622-2148C>A)
c.3756G>T (p.Arg1252Ser)
c.2880G>T (p.Arg960Ser)
c.2229G>T (p.Arg743Ser)
c.1833G>T (p.Arg611Ser)
c.1575G>T (p.Arg525Ser)
10g.75028743A=CA1920306444DUSP29,KAT6Bc.3919A= (p.Ile1307=)
c.3370A= (p.Ile1124=)
c.3043A= (p.Ile1015=)
c.2854A= (p.Ile952=)
n.577-2149T=
c.*3622-2149T= (n.*3622-2149T=)
c.3757A= (p.Ile1253=)
c.2881A= (p.Ile961=)
c.2230A= (p.Ile744=)
c.1834A= (p.Ile612=)
c.1576A= (p.Ile526=)
10g.75028743A>CCA377292577DUSP29,KAT6Bc.3919A>C (p.Ile1307Leu)
c.3370A>C (p.Ile1124Leu)
c.3043A>C (p.Ile1015Leu)
c.2854A>C (p.Ile952Leu)
n.577-2149T>G
c.*3622-2149T>G (n.*3622-2149T>G)
c.3757A>C (p.Ile1253Leu)
c.2881A>C (p.Ile961Leu)
c.2230A>C (p.Ile744Leu)
c.1834A>C (p.Ile612Leu)
c.1576A>C (p.Ile526Leu)
10g.75028743A>GCA377292578DUSP29,KAT6Bc.3919A>G (p.Ile1307Val)
c.3370A>G (p.Ile1124Val)
c.3043A>G (p.Ile1015Val)
c.2854A>G (p.Ile952Val)
n.577-2149T>C
c.*3622-2149T>C (n.*3622-2149T>C)
c.3757A>G (p.Ile1253Val)
c.2881A>G (p.Ile961Val)
c.2230A>G (p.Ile744Val)
c.1834A>G (p.Ile612Val)
c.1576A>G (p.Ile526Val)
 dbSNP gnomAD v2 gnomAD v4
10g.75028743A>TCA377292579DUSP29,KAT6Bc.3919A>T (p.Ile1307Phe)
c.3370A>T (p.Ile1124Phe)
c.3043A>T (p.Ile1015Phe)
c.2854A>T (p.Ile952Phe)
n.577-2149T>A
c.*3622-2149T>A (n.*3622-2149T>A)
c.3757A>T (p.Ile1253Phe)
c.2881A>T (p.Ile961Phe)
c.2230A>T (p.Ile744Phe)
c.1834A>T (p.Ile612Phe)
c.1576A>T (p.Ile526Phe)
10g.75028744T>ACA377292580DUSP29,KAT6Bc.3920T>A (p.Ile1307Asn)
c.3371T>A (p.Ile1124Asn)
c.3044T>A (p.Ile1015Asn)
c.2855T>A (p.Ile952Asn)
n.577-2150A>T
c.*3622-2150A>T (n.*3622-2150A>T)
c.3758T>A (p.Ile1253Asn)
c.2882T>A (p.Ile961Asn)
c.2231T>A (p.Ile744Asn)
c.1835T>A (p.Ile612Asn)
c.1577T>A (p.Ile526Asn)
10g.75028744T>CCA377292581DUSP29,KAT6Bc.3920T>C (p.Ile1307Thr)
c.3371T>C (p.Ile1124Thr)
c.3044T>C (p.Ile1015Thr)
c.2855T>C (p.Ile952Thr)
n.577-2150A>G
c.*3622-2150A>G (n.*3622-2150A>G)
c.3758T>C (p.Ile1253Thr)
c.2882T>C (p.Ile961Thr)
c.2231T>C (p.Ile744Thr)
c.1835T>C (p.Ile612Thr)
c.1577T>C (p.Ile526Thr)
 dbSNP
10g.75028744T>GCA377292582DUSP29,KAT6Bc.3920T>G (p.Ile1307Ser)
c.3371T>G (p.Ile1124Ser)
c.3044T>G (p.Ile1015Ser)
c.2855T>G (p.Ile952Ser)
n.577-2150A>C
c.*3622-2150A>C (n.*3622-2150A>C)
c.3758T>G (p.Ile1253Ser)
c.2882T>G (p.Ile961Ser)
c.2231T>G (p.Ile744Ser)
c.1835T>G (p.Ile612Ser)
c.1577T>G (p.Ile526Ser)
10g.75028745T>ACA470299620DUSP29,KAT6Bc.3921T>A (p.Ile1307=)
c.3372T>A (p.Ile1124=)
c.3045T>A (p.Ile1015=)
c.2856T>A (p.Ile952=)
n.577-2151A>T
c.*3622-2151A>T (n.*3622-2151A>T)
c.3759T>A (p.Ile1253=)
c.2883T>A (p.Ile961=)
c.2232T>A (p.Ile744=)
c.1836T>A (p.Ile612=)
c.1578T>A (p.Ile526=)
10g.75028745T>CCA470299621DUSP29,KAT6Bc.3921T>C (p.Ile1307=)
c.3372T>C (p.Ile1124=)
c.3045T>C (p.Ile1015=)
c.2856T>C (p.Ile952=)
n.577-2151A>G
c.*3622-2151A>G (n.*3622-2151A>G)
c.3759T>C (p.Ile1253=)
c.2883T>C (p.Ile961=)
c.2232T>C (p.Ile744=)
c.1836T>C (p.Ile612=)
c.1578T>C (p.Ile526=)
10g.75028745T>GCA377292583DUSP29,KAT6Bc.3921T>G (p.Ile1307Met)
c.3372T>G (p.Ile1124Met)
c.3045T>G (p.Ile1015Met)
c.2856T>G (p.Ile952Met)
n.577-2151A>C
c.*3622-2151A>C (n.*3622-2151A>C)
c.3759T>G (p.Ile1253Met)
c.2883T>G (p.Ile961Met)
c.2232T>G (p.Ile744Met)
c.1836T>G (p.Ile612Met)
c.1578T>G (p.Ile526Met)
10g.75028745_75028748delinsTGAGCA1920306445DUSP29,KAT6Bc.3921_3924delinsTGAG (p.Ile1307=)
c.3372_3375delinsTGAG (p.Ile1124=)
c.3045_3048delinsTGAG (p.Ile1015=)
c.2856_2859delinsTGAG (p.Ile952=)
n.577-2154_577-2151delinsCTCA
c.*3622-2154_*3622-2151delinsCTCA (n.*3622-2154_*3622-2151delinsCTCA)
c.3759_3762delinsTGAG (p.Ile1253=)
c.2883_2886delinsTGAG (p.Ile961=)
c.2232_2235delinsTGAG (p.Ile744=)
c.1836_1839delinsTGAG (p.Ile612=)
c.1578_1581delinsTGAG (p.Ile526=)
10g.75028746G>ACA377292586DUSP29,KAT6Bc.3922G>A (p.Glu1308Lys)
c.3373G>A (p.Glu1125Lys)
c.3046G>A (p.Glu1016Lys)
c.2857G>A (p.Glu953Lys)
n.577-2152C>T
c.*3622-2152C>T (n.*3622-2152C>T)
c.3760G>A (p.Glu1254Lys)
c.2884G>A (p.Glu962Lys)
c.2233G>A (p.Glu745Lys)
c.1837G>A (p.Glu613Lys)
c.1579G>A (p.Glu527Lys)
10g.75028746G>CCA377292585DUSP29,KAT6Bc.3922G>C (p.Glu1308Gln)
c.3373G>C (p.Glu1125Gln)
c.3046G>C (p.Glu1016Gln)
c.2857G>C (p.Glu953Gln)
n.577-2152C>G
c.*3622-2152C>G (n.*3622-2152C>G)
c.3760G>C (p.Glu1254Gln)
c.2884G>C (p.Glu962Gln)
c.2233G>C (p.Glu745Gln)
c.1837G>C (p.Glu613Gln)
c.1579G>C (p.Glu527Gln)
10g.75028746G>TCA377292584DUSP29,KAT6Bc.3922G>T (p.Glu1308Ter)
c.3373G>T (p.Glu1125Ter)
c.3046G>T (p.Glu1016Ter)
c.2857G>T (p.Glu953Ter)
n.577-2152C>A
c.*3622-2152C>A (n.*3622-2152C>A)
c.3760G>T (p.Glu1254Ter)
c.2884G>T (p.Glu962Ter)
c.2233G>T (p.Glu745Ter)
c.1837G>T (p.Glu613Ter)
c.1579G>T (p.Glu527Ter)
 gnomAD v4
10g.75028753_75028755delCA5564923DUSP29,KAT6Bc.3929_3931del (p.Glu1310del)
c.3380_3382del (p.Glu1127del)
c.3053_3055del (p.Glu1018del)
c.2864_2866del (p.Glu955del)
n.577-2154_577-2152del
c.*3622-2154_*3622-2152del (n.*3622-2154_*3622-2152del)
c.3767_3769del (p.Glu1256del)
c.2891_2893del (p.Glu964del)
c.2240_2242del (p.Glu747del)
c.1844_1846del (p.Glu615del)
c.1586_1588del (p.Glu529del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
10g.75028747A>CCA377292587DUSP29,KAT6Bc.3923A>C (p.Glu1308Ala)
c.3374A>C (p.Glu1125Ala)
c.3047A>C (p.Glu1016Ala)
c.2858A>C (p.Glu953Ala)
n.577-2153T>G
c.*3622-2153T>G (n.*3622-2153T>G)
c.3761A>C (p.Glu1254Ala)
c.2885A>C (p.Glu962Ala)
c.2234A>C (p.Glu745Ala)
c.1838A>C (p.Glu613Ala)
c.1580A>C (p.Glu527Ala)
10g.75028747A>GCA377292588DUSP29,KAT6Bc.3923A>G (p.Glu1308Gly)
c.3374A>G (p.Glu1125Gly)
c.3047A>G (p.Glu1016Gly)
c.2858A>G (p.Glu953Gly)
n.577-2153T>C
c.*3622-2153T>C (n.*3622-2153T>C)
c.3761A>G (p.Glu1254Gly)
c.2885A>G (p.Glu962Gly)
c.2234A>G (p.Glu745Gly)
c.1838A>G (p.Glu613Gly)
c.1580A>G (p.Glu527Gly)
10g.75028747A>TCA377292589DUSP29,KAT6Bc.3923A>T (p.Glu1308Val)
c.3374A>T (p.Glu1125Val)
c.3047A>T (p.Glu1016Val)
c.2858A>T (p.Glu953Val)
n.577-2153T>A
c.*3622-2153T>A (n.*3622-2153T>A)
c.3761A>T (p.Glu1254Val)
c.2885A>T (p.Glu962Val)
c.2234A>T (p.Glu745Val)
c.1838A>T (p.Glu613Val)
c.1580A>T (p.Glu527Val)
10g.75028748G>ACA470299623DUSP29,KAT6Bc.3924G>A (p.Glu1308=)
c.3375G>A (p.Glu1125=)
c.3048G>A (p.Glu1016=)
c.2859G>A (p.Glu953=)
n.577-2154C>T
c.*3622-2154C>T (n.*3622-2154C>T)
c.3762G>A (p.Glu1254=)
c.2886G>A (p.Glu962=)
c.2235G>A (p.Glu745=)
c.1839G>A (p.Glu613=)
c.1581G>A (p.Glu527=)
 dbSNP
10g.75028748G>CCA377292590DUSP29,KAT6Bc.3924G>C (p.Glu1308Asp)
c.3375G>C (p.Glu1125Asp)
c.3048G>C (p.Glu1016Asp)
c.2859G>C (p.Glu953Asp)
n.577-2154C>G
c.*3622-2154C>G (n.*3622-2154C>G)
c.3762G>C (p.Glu1254Asp)
c.2886G>C (p.Glu962Asp)
c.2235G>C (p.Glu745Asp)
c.1839G>C (p.Glu613Asp)
c.1581G>C (p.Glu527Asp)
10g.75028748G>TCA377292591DUSP29,KAT6Bc.3924G>T (p.Glu1308Asp)
c.3375G>T (p.Glu1125Asp)
c.3048G>T (p.Glu1016Asp)
c.2859G>T (p.Glu953Asp)
n.577-2154C>A
c.*3622-2154C>A (n.*3622-2154C>A)
c.3762G>T (p.Glu1254Asp)
c.2886G>T (p.Glu962Asp)
c.2235G>T (p.Glu745Asp)
c.1839G>T (p.Glu613Asp)
c.1581G>T (p.Glu527Asp)
10g.75028749dupCA2695212201DUSP29,KAT6Bc.3925dup (p.Glu1309GlyfsTer?)
c.3376dup (p.Glu1126GlyfsTer?)
c.3049dup (p.Glu1017GlyfsTer?)
c.2860dup (p.Glu954GlyfsTer?)
n.577-2154dup
c.*3622-2154dup (n.*3622-2154dup)
c.3763dup (p.Glu1255GlyfsTer?)
c.2887dup (p.Glu963GlyfsTer?)
c.2236dup (p.Glu746GlyfsTer?)
c.1840dup (p.Glu614GlyfsTer?)
c.1582dup (p.Glu528GlyfsTer?)
10g.75028749G>ACA377292593DUSP29,KAT6Bc.3925G>A (p.Glu1309Lys)
c.3376G>A (p.Glu1126Lys)
c.3049G>A (p.Glu1017Lys)
c.2860G>A (p.Glu954Lys)
n.577-2155C>T
c.*3622-2155C>T (n.*3622-2155C>T)
c.3763G>A (p.Glu1255Lys)
c.2887G>A (p.Glu963Lys)
c.2236G>A (p.Glu746Lys)
c.1840G>A (p.Glu614Lys)
c.1582G>A (p.Glu528Lys)
 gnomAD v4
10g.75028749G>CCA377292595DUSP29,KAT6Bc.3925G>C (p.Glu1309Gln)
c.3376G>C (p.Glu1126Gln)
c.3049G>C (p.Glu1017Gln)
c.2860G>C (p.Glu954Gln)
n.577-2155C>G
c.*3622-2155C>G (n.*3622-2155C>G)
c.3763G>C (p.Glu1255Gln)
c.2887G>C (p.Glu963Gln)
c.2236G>C (p.Glu746Gln)
c.1840G>C (p.Glu614Gln)
c.1582G>C (p.Glu528Gln)
10g.75028749G>TCA377292597DUSP29,KAT6Bc.3925G>T (p.Glu1309Ter)
c.3376G>T (p.Glu1126Ter)
c.3049G>T (p.Glu1017Ter)
c.2860G>T (p.Glu954Ter)
n.577-2155C>A
c.*3622-2155C>A (n.*3622-2155C>A)
c.3763G>T (p.Glu1255Ter)
c.2887G>T (p.Glu963Ter)
c.2236G>T (p.Glu746Ter)
c.1840G>T (p.Glu614Ter)
c.1582G>T (p.Glu528Ter)
10g.75028750A>CCA377292599DUSP29,KAT6Bc.3926A>C (p.Glu1309Ala)
c.3377A>C (p.Glu1126Ala)
c.3050A>C (p.Glu1017Ala)
c.2861A>C (p.Glu954Ala)
n.577-2156T>G
c.*3622-2156T>G (n.*3622-2156T>G)
c.3764A>C (p.Glu1255Ala)
c.2888A>C (p.Glu963Ala)
c.2237A>C (p.Glu746Ala)
c.1841A>C (p.Glu614Ala)
c.1583A>C (p.Glu528Ala)
10g.75028750A>GCA377292601DUSP29,KAT6Bc.3926A>G (p.Glu1309Gly)
c.3377A>G (p.Glu1126Gly)
c.3050A>G (p.Glu1017Gly)
c.2861A>G (p.Glu954Gly)
n.577-2156T>C
c.*3622-2156T>C (n.*3622-2156T>C)
c.3764A>G (p.Glu1255Gly)
c.2888A>G (p.Glu963Gly)
c.2237A>G (p.Glu746Gly)
c.1841A>G (p.Glu614Gly)
c.1583A>G (p.Glu528Gly)
10g.75028750A>TCA377292603DUSP29,KAT6Bc.3926A>T (p.Glu1309Val)
c.3377A>T (p.Glu1126Val)
c.3050A>T (p.Glu1017Val)
c.2861A>T (p.Glu954Val)
n.577-2156T>A
c.*3622-2156T>A (n.*3622-2156T>A)
c.3764A>T (p.Glu1255Val)
c.2888A>T (p.Glu963Val)
c.2237A>T (p.Glu746Val)
c.1841A>T (p.Glu614Val)
c.1583A>T (p.Glu528Val)
10g.75028751G>ACA470299625DUSP29,KAT6Bc.3927G>A (p.Glu1309=)
c.3378G>A (p.Glu1126=)
c.3051G>A (p.Glu1017=)
c.2862G>A (p.Glu954=)
n.577-2157C>T
c.*3622-2157C>T (n.*3622-2157C>T)
c.3765G>A (p.Glu1255=)
c.2889G>A (p.Glu963=)
c.2238G>A (p.Glu746=)
c.1842G>A (p.Glu614=)
c.1584G>A (p.Glu528=)
10g.75028751G>CCA377292605DUSP29,KAT6Bc.3927G>C (p.Glu1309Asp)
c.3378G>C (p.Glu1126Asp)
c.3051G>C (p.Glu1017Asp)
c.2862G>C (p.Glu954Asp)
n.577-2157C>G
c.*3622-2157C>G (n.*3622-2157C>G)
c.3765G>C (p.Glu1255Asp)
c.2889G>C (p.Glu963Asp)
c.2238G>C (p.Glu746Asp)
c.1842G>C (p.Glu614Asp)
c.1584G>C (p.Glu528Asp)
10g.75028751G>TCA377292607DUSP29,KAT6Bc.3927G>T (p.Glu1309Asp)
c.3378G>T (p.Glu1126Asp)
c.3051G>T (p.Glu1017Asp)
c.2862G>T (p.Glu954Asp)
n.577-2157C>A
c.*3622-2157C>A (n.*3622-2157C>A)
c.3765G>T (p.Glu1255Asp)
c.2889G>T (p.Glu963Asp)
c.2238G>T (p.Glu746Asp)
c.1842G>T (p.Glu614Asp)
c.1584G>T (p.Glu528Asp)
10g.75028752G>ACA377292609DUSP29,KAT6Bc.3928G>A (p.Glu1310Lys)
c.3379G>A (p.Glu1127Lys)
c.3052G>A (p.Glu1018Lys)
c.2863G>A (p.Glu955Lys)
n.577-2158C>T
c.*3622-2158C>T (n.*3622-2158C>T)
c.3766G>A (p.Glu1256Lys)
c.2890G>A (p.Glu964Lys)
c.2239G>A (p.Glu747Lys)
c.1843G>A (p.Glu615Lys)
c.1585G>A (p.Glu529Lys)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.75028752G>CCA5564924DUSP29,KAT6Bc.3928G>C (p.Glu1310Gln)
c.3379G>C (p.Glu1127Gln)
c.3052G>C (p.Glu1018Gln)
c.2863G>C (p.Glu955Gln)
n.577-2158C>G
c.*3622-2158C>G (n.*3622-2158C>G)
c.3766G>C (p.Glu1256Gln)
c.2890G>C (p.Glu964Gln)
c.2239G>C (p.Glu747Gln)
c.1843G>C (p.Glu615Gln)
c.1585G>C (p.Glu529Gln)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.75028752G=CA1920306446DUSP29,KAT6Bc.3928G= (p.Glu1310=)
c.3379G= (p.Glu1127=)
c.3052G= (p.Glu1018=)
c.2863G= (p.Glu955=)
n.577-2158C=
c.*3622-2158C= (n.*3622-2158C=)
c.3766G= (p.Glu1256=)
c.2890G= (p.Glu964=)
c.2239G= (p.Glu747=)
c.1843G= (p.Glu615=)
c.1585G= (p.Glu529=)
10g.75028752G>TCA377292611DUSP29,KAT6Bc.3928G>T (p.Glu1310Ter)
c.3379G>T (p.Glu1127Ter)
c.3052G>T (p.Glu1018Ter)
c.2863G>T (p.Glu955Ter)
n.577-2158C>A
c.*3622-2158C>A (n.*3622-2158C>A)
c.3766G>T (p.Glu1256Ter)
c.2890G>T (p.Glu964Ter)
c.2239G>T (p.Glu747Ter)
c.1843G>T (p.Glu615Ter)
c.1585G>T (p.Glu529Ter)
10g.75028753A=CA1920306447DUSP29,KAT6Bc.3929A= (p.Glu1310=)
c.3380A= (p.Glu1127=)
c.3053A= (p.Glu1018=)
c.2864A= (p.Glu955=)
n.577-2159T=
c.*3622-2159T= (n.*3622-2159T=)
c.3767A= (p.Glu1256=)
c.2891A= (p.Glu964=)
c.2240A= (p.Glu747=)
c.1844A= (p.Glu615=)
c.1586A= (p.Glu529=)
10g.75028753A>CCA377292613DUSP29,KAT6Bc.3929A>C (p.Glu1310Ala)
c.3380A>C (p.Glu1127Ala)
c.3053A>C (p.Glu1018Ala)
c.2864A>C (p.Glu955Ala)
n.577-2159T>G
c.*3622-2159T>G (n.*3622-2159T>G)
c.3767A>C (p.Glu1256Ala)
c.2891A>C (p.Glu964Ala)
c.2240A>C (p.Glu747Ala)
c.1844A>C (p.Glu615Ala)
c.1586A>C (p.Glu529Ala)
10g.75028753A>GCA377292615DUSP29,KAT6Bc.3929A>G (p.Glu1310Gly)
c.3380A>G (p.Glu1127Gly)
c.3053A>G (p.Glu1018Gly)
c.2864A>G (p.Glu955Gly)
n.577-2159T>C
c.*3622-2159T>C (n.*3622-2159T>C)
c.3767A>G (p.Glu1256Gly)
c.2891A>G (p.Glu964Gly)
c.2240A>G (p.Glu747Gly)
c.1844A>G (p.Glu615Gly)
c.1586A>G (p.Glu529Gly)
10g.75028753A>TCA377292616DUSP29,KAT6Bc.3929A>T (p.Glu1310Val)
c.3380A>T (p.Glu1127Val)
c.3053A>T (p.Glu1018Val)
c.2864A>T (p.Glu955Val)
n.577-2159T>A
c.*3622-2159T>A (n.*3622-2159T>A)
c.3767A>T (p.Glu1256Val)
c.2891A>T (p.Glu964Val)
c.2240A>T (p.Glu747Val)
c.1844A>T (p.Glu615Val)
c.1586A>T (p.Glu529Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.75028754G>ACA470299627DUSP29,KAT6Bc.3930G>A (p.Glu1310=)
c.3381G>A (p.Glu1127=)
c.3054G>A (p.Glu1018=)
c.2865G>A (p.Glu955=)
n.577-2160C>T
c.*3622-2160C>T (n.*3622-2160C>T)
c.3768G>A (p.Glu1256=)
c.2892G>A (p.Glu964=)
c.2241G>A (p.Glu747=)
c.1845G>A (p.Glu615=)
c.1587G>A (p.Glu529=)
 gnomAD v4
10g.75028754G>CCA377292620DUSP29,KAT6Bc.3930G>C (p.Glu1310Asp)
c.3381G>C (p.Glu1127Asp)
c.3054G>C (p.Glu1018Asp)
c.2865G>C (p.Glu955Asp)
n.577-2160C>G
c.*3622-2160C>G (n.*3622-2160C>G)
c.3768G>C (p.Glu1256Asp)
c.2892G>C (p.Glu964Asp)
c.2241G>C (p.Glu747Asp)
c.1845G>C (p.Glu615Asp)
c.1587G>C (p.Glu529Asp)
 dbSNP gnomAD v3 gnomAD v4
10g.75028754G=CA1920306448DUSP29,KAT6Bc.3930G= (p.Glu1310=)
c.3381G= (p.Glu1127=)
c.3054G= (p.Glu1018=)
c.2865G= (p.Glu955=)
n.577-2160C=
c.*3622-2160C= (n.*3622-2160C=)
c.3768G= (p.Glu1256=)
c.2892G= (p.Glu964=)
c.2241G= (p.Glu747=)
c.1845G= (p.Glu615=)
c.1587G= (p.Glu529=)
10g.75028754G>TCA377292619DUSP29,KAT6Bc.3930G>T (p.Glu1310Asp)
c.3381G>T (p.Glu1127Asp)
c.3054G>T (p.Glu1018Asp)
c.2865G>T (p.Glu955Asp)
n.577-2160C>A
c.*3622-2160C>A (n.*3622-2160C>A)
c.3768G>T (p.Glu1256Asp)
c.2892G>T (p.Glu964Asp)
c.2241G>T (p.Glu747Asp)
c.1845G>T (p.Glu615Asp)
c.1587G>T (p.Glu529Asp)
10g.75028755G>ACA377292622DUSP29,KAT6Bc.3931G>A (p.Val1311Ile)
c.3382G>A (p.Val1128Ile)
c.3055G>A (p.Val1019Ile)
c.2866G>A (p.Val956Ile)
n.577-2161C>T
c.*3622-2161C>T (n.*3622-2161C>T)
c.3769G>A (p.Val1257Ile)
c.2893G>A (p.Val965Ile)
c.2242G>A (p.Val748Ile)
c.1846G>A (p.Val616Ile)
c.1588G>A (p.Val530Ile)
 dbSNP gnomAD v3 gnomAD v4
10g.75028755G>CCA377292624DUSP29,KAT6Bc.3931G>C (p.Val1311Leu)
c.3382G>C (p.Val1128Leu)
c.3055G>C (p.Val1019Leu)
c.2866G>C (p.Val956Leu)
n.577-2161C>G
c.*3622-2161C>G (n.*3622-2161C>G)
c.3769G>C (p.Val1257Leu)
c.2893G>C (p.Val965Leu)
c.2242G>C (p.Val748Leu)
c.1846G>C (p.Val616Leu)
c.1588G>C (p.Val530Leu)
10g.75028755G=CA1920306449DUSP29,KAT6Bc.3931G= (p.Val1311=)
c.3382G= (p.Val1128=)
c.3055G= (p.Val1019=)
c.2866G= (p.Val956=)
n.577-2161C=
c.*3622-2161C= (n.*3622-2161C=)
c.3769G= (p.Val1257=)
c.2893G= (p.Val965=)
c.2242G= (p.Val748=)
c.1846G= (p.Val616=)
c.1588G= (p.Val530=)
10g.75028755G>TCA5564925DUSP29,KAT6Bc.3931G>T (p.Val1311Phe)
c.3382G>T (p.Val1128Phe)
c.3055G>T (p.Val1019Phe)
c.2866G>T (p.Val956Phe)
n.577-2161C>A
c.*3622-2161C>A (n.*3622-2161C>A)
c.3769G>T (p.Val1257Phe)
c.2893G>T (p.Val965Phe)
c.2242G>T (p.Val748Phe)
c.1846G>T (p.Val616Phe)
c.1588G>T (p.Val530Phe)
 dbSNP ExAC gnomAD v3 gnomAD v4
10g.75028756T>ACA377292627DUSP29,KAT6Bc.3932T>A (p.Val1311Asp)
c.3383T>A (p.Val1128Asp)
c.3056T>A (p.Val1019Asp)
c.2867T>A (p.Val956Asp)
n.577-2162A>T
c.*3622-2162A>T (n.*3622-2162A>T)
c.3770T>A (p.Val1257Asp)
c.2894T>A (p.Val965Asp)
c.2243T>A (p.Val748Asp)
c.1847T>A (p.Val616Asp)
c.1589T>A (p.Val530Asp)
10g.75028756T>CCA377292628DUSP29,KAT6Bc.3932T>C (p.Val1311Ala)
c.3383T>C (p.Val1128Ala)
c.3056T>C (p.Val1019Ala)
c.2867T>C (p.Val956Ala)
n.577-2162A>G
c.*3622-2162A>G (n.*3622-2162A>G)
c.3770T>C (p.Val1257Ala)
c.2894T>C (p.Val965Ala)
c.2243T>C (p.Val748Ala)
c.1847T>C (p.Val616Ala)
c.1589T>C (p.Val530Ala)
10g.75028756T>GCA377292630DUSP29,KAT6Bc.3932T>G (p.Val1311Gly)
c.3383T>G (p.Val1128Gly)
c.3056T>G (p.Val1019Gly)
c.2867T>G (p.Val956Gly)
n.577-2162A>C
c.*3622-2162A>C (n.*3622-2162A>C)
c.3770T>G (p.Val1257Gly)
c.2894T>G (p.Val965Gly)
c.2243T>G (p.Val748Gly)
c.1847T>G (p.Val616Gly)
c.1589T>G (p.Val530Gly)
10g.75028757C>ACA470299631DUSP29,KAT6Bc.3933C>A (p.Val1311=)
c.3384C>A (p.Val1128=)
c.3057C>A (p.Val1019=)
c.2868C>A (p.Val956=)
n.577-2163G>T
c.*3622-2163G>T (n.*3622-2163G>T)
c.3771C>A (p.Val1257=)
c.2895C>A (p.Val965=)
c.2244C>A (p.Val748=)
c.1848C>A (p.Val616=)
c.1590C>A (p.Val530=)
 COSMIC
10g.75028757C>GCA470299632DUSP29,KAT6Bc.3933C>G (p.Val1311=)
c.3384C>G (p.Val1128=)
c.3057C>G (p.Val1019=)
c.2868C>G (p.Val956=)
n.577-2163G>C
c.*3622-2163G>C (n.*3622-2163G>C)
c.3771C>G (p.Val1257=)
c.2895C>G (p.Val965=)
c.2244C>G (p.Val748=)
c.1848C>G (p.Val616=)
c.1590C>G (p.Val530=)
10g.75028757C>TCA470299633DUSP29,KAT6Bc.3933C>T (p.Val1311=)
c.3384C>T (p.Val1128=)
c.3057C>T (p.Val1019=)
c.2868C>T (p.Val956=)
n.577-2163G>A
c.*3622-2163G>A (n.*3622-2163G>A)
c.3771C>T (p.Val1257=)
c.2895C>T (p.Val965=)
c.2244C>T (p.Val748=)
c.1848C>T (p.Val616=)
c.1590C>T (p.Val530=)
10g.75028758A>CCA377292632DUSP29,KAT6Bc.3934A>C (p.Lys1312Gln)
c.3385A>C (p.Lys1129Gln)
c.3058A>C (p.Lys1020Gln)
c.2869A>C (p.Lys957Gln)
n.577-2164T>G
c.*3622-2164T>G (n.*3622-2164T>G)
c.3772A>C (p.Lys1258Gln)
c.2896A>C (p.Lys966Gln)
c.2245A>C (p.Lys749Gln)
c.1849A>C (p.Lys617Gln)
c.1591A>C (p.Lys531Gln)
10g.75028758A>GCA377292636DUSP29,KAT6Bc.3934A>G (p.Lys1312Glu)
c.3385A>G (p.Lys1129Glu)
c.3058A>G (p.Lys1020Glu)
c.2869A>G (p.Lys957Glu)
n.577-2164T>C
c.*3622-2164T>C (n.*3622-2164T>C)
c.3772A>G (p.Lys1258Glu)
c.2896A>G (p.Lys966Glu)
c.2245A>G (p.Lys749Glu)
c.1849A>G (p.Lys617Glu)
c.1591A>G (p.Lys531Glu)
10g.75028758A>TCA377292634DUSP29,KAT6Bc.3934A>T (p.Lys1312Ter)
c.3385A>T (p.Lys1129Ter)
c.3058A>T (p.Lys1020Ter)
c.2869A>T (p.Lys957Ter)
n.577-2164T>A
c.*3622-2164T>A (n.*3622-2164T>A)
c.3772A>T (p.Lys1258Ter)
c.2896A>T (p.Lys966Ter)
c.2245A>T (p.Lys749Ter)
c.1849A>T (p.Lys617Ter)
c.1591A>T (p.Lys531Ter)
10g.75028759A>CCA377292639DUSP29,KAT6Bc.3935A>C (p.Lys1312Thr)
c.3386A>C (p.Lys1129Thr)
c.3059A>C (p.Lys1020Thr)
c.2870A>C (p.Lys957Thr)
n.577-2165T>G
c.*3622-2165T>G (n.*3622-2165T>G)
c.3773A>C (p.Lys1258Thr)
c.2897A>C (p.Lys966Thr)
c.2246A>C (p.Lys749Thr)
c.1850A>C (p.Lys617Thr)
c.1592A>C (p.Lys531Thr)
10g.75028759A>GCA377292641DUSP29,KAT6Bc.3935A>G (p.Lys1312Arg)
c.3386A>G (p.Lys1129Arg)
c.3059A>G (p.Lys1020Arg)
c.2870A>G (p.Lys957Arg)
n.577-2165T>C
c.*3622-2165T>C (n.*3622-2165T>C)
c.3773A>G (p.Lys1258Arg)
c.2897A>G (p.Lys966Arg)
c.2246A>G (p.Lys749Arg)
c.1850A>G (p.Lys617Arg)
c.1592A>G (p.Lys531Arg)
10g.75028759A>TCA377292643DUSP29,KAT6Bc.3935A>T (p.Lys1312Met)
c.3386A>T (p.Lys1129Met)
c.3059A>T (p.Lys1020Met)
c.2870A>T (p.Lys957Met)
n.577-2165T>A
c.*3622-2165T>A (n.*3622-2165T>A)
c.3773A>T (p.Lys1258Met)
c.2897A>T (p.Lys966Met)
c.2246A>T (p.Lys749Met)
c.1850A>T (p.Lys617Met)
c.1592A>T (p.Lys531Met)
10g.75028760G>ACA470299584DUSP29,KAT6Bc.3936G>A (p.Lys1312=)
c.3387G>A (p.Lys1129=)
c.3060G>A (p.Lys1020=)
c.2871G>A (p.Lys957=)
n.577-2166C>T
c.*3622-2166C>T (n.*3622-2166C>T)
c.3774G>A (p.Lys1258=)
c.2898G>A (p.Lys966=)
c.2247G>A (p.Lys749=)
c.1851G>A (p.Lys617=)
c.1593G>A (p.Lys531=)
 gnomAD v4
10g.75028760G>CCA377294741DUSP29,KAT6Bc.3936G>C (p.Lys1312Asn)
c.3387G>C (p.Lys1129Asn)
c.3060G>C (p.Lys1020Asn)
c.2871G>C (p.Lys957Asn)
n.577-2166C>G
c.*3622-2166C>G (n.*3622-2166C>G)
c.3774G>C (p.Lys1258Asn)
c.2898G>C (p.Lys966Asn)
c.2247G>C (p.Lys749Asn)
c.1851G>C (p.Lys617Asn)
c.1593G>C (p.Lys531Asn)
10g.75028760G>TCA377294742DUSP29,KAT6Bc.3936G>T (p.Lys1312Asn)
c.3387G>T (p.Lys1129Asn)
c.3060G>T (p.Lys1020Asn)
c.2871G>T (p.Lys957Asn)
n.577-2166C>A
c.*3622-2166C>A (n.*3622-2166C>A)
c.3774G>T (p.Lys1258Asn)
c.2898G>T (p.Lys966Asn)
c.2247G>T (p.Lys749Asn)
c.1851G>T (p.Lys617Asn)
c.1593G>T (p.Lys531Asn)
10g.75028761G>ACA377294743DUSP29,KAT6Bc.3937G>A (p.Glu1313Lys)
c.3388G>A (p.Glu1130Lys)
c.3061G>A (p.Glu1021Lys)
c.2872G>A (p.Glu958Lys)
n.577-2167C>T
c.*3622-2167C>T (n.*3622-2167C>T)
c.3775G>A (p.Glu1259Lys)
c.2899G>A (p.Glu967Lys)
c.2248G>A (p.Glu750Lys)
c.1852G>A (p.Glu618Lys)
c.1594G>A (p.Glu532Lys)
10g.75028761G>CCA377294744DUSP29,KAT6Bc.3937G>C (p.Glu1313Gln)
c.3388G>C (p.Glu1130Gln)
c.3061G>C (p.Glu1021Gln)
c.2872G>C (p.Glu958Gln)
n.577-2167C>G
c.*3622-2167C>G (n.*3622-2167C>G)
c.3775G>C (p.Glu1259Gln)
c.2899G>C (p.Glu967Gln)
c.2248G>C (p.Glu750Gln)
c.1852G>C (p.Glu618Gln)
c.1594G>C (p.Glu532Gln)
10g.75028761G>TCA377294745DUSP29,KAT6Bc.3937G>T (p.Glu1313Ter)
c.3388G>T (p.Glu1130Ter)
c.3061G>T (p.Glu1021Ter)
c.2872G>T (p.Glu958Ter)
n.577-2167C>A
c.*3622-2167C>A (n.*3622-2167C>A)
c.3775G>T (p.Glu1259Ter)
c.2899G>T (p.Glu967Ter)
c.2248G>T (p.Glu750Ter)
c.1852G>T (p.Glu618Ter)
c.1594G>T (p.Glu532Ter)
10g.75028762A>CCA377294746DUSP29,KAT6Bc.3938A>C (p.Glu1313Ala)
c.3389A>C (p.Glu1130Ala)
c.3062A>C (p.Glu1021Ala)
c.2873A>C (p.Glu958Ala)
n.577-2168T>G
c.*3622-2168T>G (n.*3622-2168T>G)
c.3776A>C (p.Glu1259Ala)
c.2900A>C (p.Glu967Ala)
c.2249A>C (p.Glu750Ala)
c.1853A>C (p.Glu618Ala)
c.1595A>C (p.Glu532Ala)
10g.75028762A>GCA377294747DUSP29,KAT6Bc.3938A>G (p.Glu1313Gly)
c.3389A>G (p.Glu1130Gly)
c.3062A>G (p.Glu1021Gly)
c.2873A>G (p.Glu958Gly)
n.577-2168T>C
c.*3622-2168T>C (n.*3622-2168T>C)
c.3776A>G (p.Glu1259Gly)
c.2900A>G (p.Glu967Gly)
c.2249A>G (p.Glu750Gly)
c.1853A>G (p.Glu618Gly)
c.1595A>G (p.Glu532Gly)
10g.75028762A>TCA377294748DUSP29,KAT6Bc.3938A>T (p.Glu1313Val)
c.3389A>T (p.Glu1130Val)
c.3062A>T (p.Glu1021Val)
c.2873A>T (p.Glu958Val)
n.577-2168T>A
c.*3622-2168T>A (n.*3622-2168T>A)
c.3776A>T (p.Glu1259Val)
c.2900A>T (p.Glu967Val)
c.2249A>T (p.Glu750Val)
c.1853A>T (p.Glu618Val)
c.1595A>T (p.Glu532Val)
10g.75028763A>CCA377294749DUSP29,KAT6Bc.3939A>C (p.Glu1313Asp)
c.3390A>C (p.Glu1130Asp)
c.3063A>C (p.Glu1021Asp)
c.2874A>C (p.Glu958Asp)
n.577-2169T>G
c.*3622-2169T>G (n.*3622-2169T>G)
c.3777A>C (p.Glu1259Asp)
c.2901A>C (p.Glu967Asp)
c.2250A>C (p.Glu750Asp)
c.1854A>C (p.Glu618Asp)
c.1596A>C (p.Glu532Asp)
10g.75028763A>GCA470299588DUSP29,KAT6Bc.3939A>G (p.Glu1313=)
c.3390A>G (p.Glu1130=)
c.3063A>G (p.Glu1021=)
c.2874A>G (p.Glu958=)
n.577-2169T>C
c.*3622-2169T>C (n.*3622-2169T>C)
c.3777A>G (p.Glu1259=)
c.2901A>G (p.Glu967=)
c.2250A>G (p.Glu750=)
c.1854A>G (p.Glu618=)
c.1596A>G (p.Glu532=)
10g.75028763A>TCA377294750DUSP29,KAT6Bc.3939A>T (p.Glu1313Asp)
c.3390A>T (p.Glu1130Asp)
c.3063A>T (p.Glu1021Asp)
c.2874A>T (p.Glu958Asp)
n.577-2169T>A
c.*3622-2169T>A (n.*3622-2169T>A)
c.3777A>T (p.Glu1259Asp)
c.2901A>T (p.Glu967Asp)
c.2250A>T (p.Glu750Asp)
c.1854A>T (p.Glu618Asp)
c.1596A>T (p.Glu532Asp)
10g.75028764A>CCA377294751DUSP29,KAT6Bc.3940A>C (p.Thr1314Pro)
c.3391A>C (p.Thr1131Pro)
c.3064A>C (p.Thr1022Pro)
c.2875A>C (p.Thr959Pro)
n.577-2170T>G
c.*3622-2170T>G (n.*3622-2170T>G)
c.3778A>C (p.Thr1260Pro)
c.2902A>C (p.Thr968Pro)
c.2251A>C (p.Thr751Pro)
c.1855A>C (p.Thr619Pro)
c.1597A>C (p.Thr533Pro)
10g.75028764A>GCA377294752DUSP29,KAT6Bc.3940A>G (p.Thr1314Ala)
c.3391A>G (p.Thr1131Ala)
c.3064A>G (p.Thr1022Ala)
c.2875A>G (p.Thr959Ala)
n.577-2170T>C
c.*3622-2170T>C (n.*3622-2170T>C)
c.3778A>G (p.Thr1260Ala)
c.2902A>G (p.Thr968Ala)
c.2251A>G (p.Thr751Ala)
c.1855A>G (p.Thr619Ala)
c.1597A>G (p.Thr533Ala)
10g.75028764A>TCA377294753DUSP29,KAT6Bc.3940A>T (p.Thr1314Ser)
c.3391A>T (p.Thr1131Ser)
c.3064A>T (p.Thr1022Ser)
c.2875A>T (p.Thr959Ser)
n.577-2170T>A
c.*3622-2170T>A (n.*3622-2170T>A)
c.3778A>T (p.Thr1260Ser)
c.2902A>T (p.Thr968Ser)
c.2251A>T (p.Thr751Ser)
c.1855A>T (p.Thr619Ser)
c.1597A>T (p.Thr533Ser)
10g.75028765C>ACA377294754DUSP29,KAT6Bc.3941C>A (p.Thr1314Asn)
c.3392C>A (p.Thr1131Asn)
c.3065C>A (p.Thr1022Asn)
c.2876C>A (p.Thr959Asn)
n.577-2171G>T
c.*3622-2171G>T (n.*3622-2171G>T)
c.3779C>A (p.Thr1260Asn)
c.2903C>A (p.Thr968Asn)
c.2252C>A (p.Thr751Asn)
c.1856C>A (p.Thr619Asn)
c.1598C>A (p.Thr533Asn)
10g.75028765C>GCA377294755DUSP29,KAT6Bc.3941C>G (p.Thr1314Ser)
c.3392C>G (p.Thr1131Ser)
c.3065C>G (p.Thr1022Ser)
c.2876C>G (p.Thr959Ser)
n.577-2171G>C
c.*3622-2171G>C (n.*3622-2171G>C)
c.3779C>G (p.Thr1260Ser)
c.2903C>G (p.Thr968Ser)
c.2252C>G (p.Thr751Ser)
c.1856C>G (p.Thr619Ser)
c.1598C>G (p.Thr533Ser)
10g.75028765C>TCA377294756DUSP29,KAT6Bc.3941C>T (p.Thr1314Ile)
c.3392C>T (p.Thr1131Ile)
c.3065C>T (p.Thr1022Ile)
c.2876C>T (p.Thr959Ile)
n.577-2171G>A
c.*3622-2171G>A (n.*3622-2171G>A)
c.3779C>T (p.Thr1260Ile)
c.2903C>T (p.Thr968Ile)
c.2252C>T (p.Thr751Ile)
c.1856C>T (p.Thr619Ile)
c.1598C>T (p.Thr533Ile)
10g.75028766T>ACA5564926DUSP29,KAT6Bc.3942T>A (p.Thr1314=)
c.3393T>A (p.Thr1131=)
c.3066T>A (p.Thr1022=)
c.2877T>A (p.Thr959=)
n.577-2172A>T
c.*3622-2172A>T (n.*3622-2172A>T)
c.3780T>A (p.Thr1260=)
c.2904T>A (p.Thr968=)
c.2253T>A (p.Thr751=)
c.1857T>A (p.Thr619=)
c.1599T>A (p.Thr533=)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.75028766T>CCA470299590DUSP29,KAT6Bc.3942T>C (p.Thr1314=)
c.3393T>C (p.Thr1131=)
c.3066T>C (p.Thr1022=)
c.2877T>C (p.Thr959=)
n.577-2172A>G
c.*3622-2172A>G (n.*3622-2172A>G)
c.3780T>C (p.Thr1260=)
c.2904T>C (p.Thr968=)
c.2253T>C (p.Thr751=)
c.1857T>C (p.Thr619=)
c.1599T>C (p.Thr533=)
 gnomAD v4
10g.75028766T>GCA470299591DUSP29,KAT6Bc.3942T>G (p.Thr1314=)
c.3393T>G (p.Thr1131=)
c.3066T>G (p.Thr1022=)
c.2877T>G (p.Thr959=)
n.577-2172A>C
c.*3622-2172A>C (n.*3622-2172A>C)
c.3780T>G (p.Thr1260=)
c.2904T>G (p.Thr968=)
c.2253T>G (p.Thr751=)
c.1857T>G (p.Thr619=)
c.1599T>G (p.Thr533=)
 gnomAD v4
10g.75028766T=CA1920306450DUSP29,KAT6Bc.3942T= (p.Thr1314=)
c.3393T= (p.Thr1131=)
c.3066T= (p.Thr1022=)
c.2877T= (p.Thr959=)
n.577-2172A=
c.*3622-2172A= (n.*3622-2172A=)
c.3780T= (p.Thr1260=)
c.2904T= (p.Thr968=)
c.2253T= (p.Thr751=)
c.1857T= (p.Thr619=)
c.1599T= (p.Thr533=)
10g.75028767G>ACA377294757DUSP29,KAT6Bc.3943G>A (p.Gly1315Arg)
c.3394G>A (p.Gly1132Arg)
c.3067G>A (p.Gly1023Arg)
c.2878G>A (p.Gly960Arg)
n.577-2173C>T
c.*3622-2173C>T (n.*3622-2173C>T)
c.3781G>A (p.Gly1261Arg)
c.2905G>A (p.Gly969Arg)
c.2254G>A (p.Gly752Arg)
c.1858G>A (p.Gly620Arg)
c.1600G>A (p.Gly534Arg)
10g.75028767G>CCA5564927DUSP29,KAT6Bc.3943G>C (p.Gly1315Arg)
c.3394G>C (p.Gly1132Arg)
c.3067G>C (p.Gly1023Arg)
c.2878G>C (p.Gly960Arg)
n.577-2173C>G
c.*3622-2173C>G (n.*3622-2173C>G)
c.3781G>C (p.Gly1261Arg)
c.2905G>C (p.Gly969Arg)
c.2254G>C (p.Gly752Arg)
c.1858G>C (p.Gly620Arg)
c.1600G>C (p.Gly534Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.75028767G=CA1920306451DUSP29,KAT6Bc.3943G= (p.Gly1315=)
c.3394G= (p.Gly1132=)
c.3067G= (p.Gly1023=)
c.2878G= (p.Gly960=)
n.577-2173C=
c.*3622-2173C= (n.*3622-2173C=)
c.3781G= (p.Gly1261=)
c.2905G= (p.Gly969=)
c.2254G= (p.Gly752=)
c.1858G= (p.Gly620=)
c.1600G= (p.Gly534=)
10g.75028767G>TCA377294758DUSP29,KAT6Bc.3943G>T (p.Gly1315Trp)
c.3394G>T (p.Gly1132Trp)
c.3067G>T (p.Gly1023Trp)
c.2878G>T (p.Gly960Trp)
n.577-2173C>A
c.*3622-2173C>A (n.*3622-2173C>A)
c.3781G>T (p.Gly1261Trp)
c.2905G>T (p.Gly969Trp)
c.2254G>T (p.Gly752Trp)
c.1858G>T (p.Gly620Trp)
c.1600G>T (p.Gly534Trp)

Number of alleles fetched