Chr Mutation (hg38) CAid Gene Transcript Linkouts
10g.75028525G>ACA377291411DUSP29,KAT6Bc.3701G>A (p.Gly1234Asp)
c.3152G>A (p.Gly1051Asp)
c.2825G>A (p.Gly942Asp)
c.2636G>A (p.Gly879Asp)
n.577-1931C>T
c.*3622-1931C>T (n.*3622-1931C>T)
c.3539G>A (p.Gly1180Asp)
c.2663G>A (p.Gly888Asp)
c.2012G>A (p.Gly671Asp)
c.1616G>A (p.Gly539Asp)
c.1358G>A (p.Gly453Asp)
10g.75028525G>CCA5564886DUSP29,KAT6Bc.3701G>C (p.Gly1234Ala)
c.3152G>C (p.Gly1051Ala)
c.2825G>C (p.Gly942Ala)
c.2636G>C (p.Gly879Ala)
n.577-1931C>G
c.*3622-1931C>G (n.*3622-1931C>G)
c.3539G>C (p.Gly1180Ala)
c.2663G>C (p.Gly888Ala)
c.2012G>C (p.Gly671Ala)
c.1616G>C (p.Gly539Ala)
c.1358G>C (p.Gly453Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.75028525G=CA1920306364DUSP29,KAT6Bc.3701G= (p.Gly1234=)
c.3152G= (p.Gly1051=)
c.2825G= (p.Gly942=)
c.2636G= (p.Gly879=)
n.577-1931C=
c.*3622-1931C= (n.*3622-1931C=)
c.3539G= (p.Gly1180=)
c.2663G= (p.Gly888=)
c.2012G= (p.Gly671=)
c.1616G= (p.Gly539=)
c.1358G= (p.Gly453=)
10g.75028525G>TCA377291413DUSP29,KAT6Bc.3701G>T (p.Gly1234Val)
c.3152G>T (p.Gly1051Val)
c.2825G>T (p.Gly942Val)
c.2636G>T (p.Gly879Val)
n.577-1931C>A
c.*3622-1931C>A (n.*3622-1931C>A)
c.3539G>T (p.Gly1180Val)
c.2663G>T (p.Gly888Val)
c.2012G>T (p.Gly671Val)
c.1616G>T (p.Gly539Val)
c.1358G>T (p.Gly453Val)
10g.75028526C>ACA470299482DUSP29,KAT6Bc.3702C>A (p.Gly1234=)
c.3153C>A (p.Gly1051=)
c.2826C>A (p.Gly942=)
c.2637C>A (p.Gly879=)
n.577-1932G>T
c.*3622-1932G>T (n.*3622-1932G>T)
c.3540C>A (p.Gly1180=)
c.2664C>A (p.Gly888=)
c.2013C>A (p.Gly671=)
c.1617C>A (p.Gly539=)
c.1359C>A (p.Gly453=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.75028526C=CA1920306365DUSP29,KAT6Bc.3702C= (p.Gly1234=)
c.3153C= (p.Gly1051=)
c.2826C= (p.Gly942=)
c.2637C= (p.Gly879=)
n.577-1932G=
c.*3622-1932G= (n.*3622-1932G=)
c.3540C= (p.Gly1180=)
c.2664C= (p.Gly888=)
c.2013C= (p.Gly671=)
c.1617C= (p.Gly539=)
c.1359C= (p.Gly453=)
10g.75028526C>GCA470299480DUSP29,KAT6Bc.3702C>G (p.Gly1234=)
c.3153C>G (p.Gly1051=)
c.2826C>G (p.Gly942=)
c.2637C>G (p.Gly879=)
n.577-1932G>C
c.*3622-1932G>C (n.*3622-1932G>C)
c.3540C>G (p.Gly1180=)
c.2664C>G (p.Gly888=)
c.2013C>G (p.Gly671=)
c.1617C>G (p.Gly539=)
c.1359C>G (p.Gly453=)
10g.75028526C>TCA470299481DUSP29,KAT6Bc.3702C>T (p.Gly1234=)
c.3153C>T (p.Gly1051=)
c.2826C>T (p.Gly942=)
c.2637C>T (p.Gly879=)
n.577-1932G>A
c.*3622-1932G>A (n.*3622-1932G>A)
c.3540C>T (p.Gly1180=)
c.2664C>T (p.Gly888=)
c.2013C>T (p.Gly671=)
c.1617C>T (p.Gly539=)
c.1359C>T (p.Gly453=)
 ClinVar
10g.75028527A>CCA377291415DUSP29,KAT6Bc.3703A>C (p.Ser1235Arg)
c.3154A>C (p.Ser1052Arg)
c.2827A>C (p.Ser943Arg)
c.2638A>C (p.Ser880Arg)
n.577-1933T>G
c.*3622-1933T>G (n.*3622-1933T>G)
c.3541A>C (p.Ser1181Arg)
c.2665A>C (p.Ser889Arg)
c.2014A>C (p.Ser672Arg)
c.1618A>C (p.Ser540Arg)
c.1360A>C (p.Ser454Arg)
10g.75028527A>GCA377291417DUSP29,KAT6Bc.3703A>G (p.Ser1235Gly)
c.3154A>G (p.Ser1052Gly)
c.2827A>G (p.Ser943Gly)
c.2638A>G (p.Ser880Gly)
n.577-1933T>C
c.*3622-1933T>C (n.*3622-1933T>C)
c.3541A>G (p.Ser1181Gly)
c.2665A>G (p.Ser889Gly)
c.2014A>G (p.Ser672Gly)
c.1618A>G (p.Ser540Gly)
c.1360A>G (p.Ser454Gly)
 gnomAD v4
10g.75028527A>TCA377291419DUSP29,KAT6Bc.3703A>T (p.Ser1235Cys)
c.3154A>T (p.Ser1052Cys)
c.2827A>T (p.Ser943Cys)
c.2638A>T (p.Ser880Cys)
n.577-1933T>A
c.*3622-1933T>A (n.*3622-1933T>A)
c.3541A>T (p.Ser1181Cys)
c.2665A>T (p.Ser889Cys)
c.2014A>T (p.Ser672Cys)
c.1618A>T (p.Ser540Cys)
c.1360A>T (p.Ser454Cys)
10g.75028528G>ACA5564887DUSP29,KAT6Bc.3704G>A (p.Ser1235Asn)
c.3155G>A (p.Ser1052Asn)
c.2828G>A (p.Ser943Asn)
c.2639G>A (p.Ser880Asn)
n.577-1934C>T
c.*3622-1934C>T (n.*3622-1934C>T)
c.3542G>A (p.Ser1181Asn)
c.2666G>A (p.Ser889Asn)
c.2015G>A (p.Ser672Asn)
c.1619G>A (p.Ser540Asn)
c.1361G>A (p.Ser454Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
10g.75028528G>CCA377291422DUSP29,KAT6Bc.3704G>C (p.Ser1235Thr)
c.3155G>C (p.Ser1052Thr)
c.2828G>C (p.Ser943Thr)
c.2639G>C (p.Ser880Thr)
n.577-1934C>G
c.*3622-1934C>G (n.*3622-1934C>G)
c.3542G>C (p.Ser1181Thr)
c.2666G>C (p.Ser889Thr)
c.2015G>C (p.Ser672Thr)
c.1619G>C (p.Ser540Thr)
c.1361G>C (p.Ser454Thr)
10g.75028528G=CA1920306366DUSP29,KAT6Bc.3704G= (p.Ser1235=)
c.3155G= (p.Ser1052=)
c.2828G= (p.Ser943=)
c.2639G= (p.Ser880=)
n.577-1934C=
c.*3622-1934C= (n.*3622-1934C=)
c.3542G= (p.Ser1181=)
c.2666G= (p.Ser889=)
c.2015G= (p.Ser672=)
c.1619G= (p.Ser540=)
c.1361G= (p.Ser454=)
10g.75028528G>TCA377291424DUSP29,KAT6Bc.3704G>T (p.Ser1235Ile)
c.3155G>T (p.Ser1052Ile)
c.2828G>T (p.Ser943Ile)
c.2639G>T (p.Ser880Ile)
n.577-1934C>A
c.*3622-1934C>A (n.*3622-1934C>A)
c.3542G>T (p.Ser1181Ile)
c.2666G>T (p.Ser889Ile)
c.2015G>T (p.Ser672Ile)
c.1619G>T (p.Ser540Ile)
c.1361G>T (p.Ser454Ile)
10g.75028529T>ACA377291425DUSP29,KAT6Bc.3705T>A (p.Ser1235Arg)
c.3156T>A (p.Ser1052Arg)
c.2829T>A (p.Ser943Arg)
c.2640T>A (p.Ser880Arg)
n.577-1935A>T
c.*3622-1935A>T (n.*3622-1935A>T)
c.3543T>A (p.Ser1181Arg)
c.2667T>A (p.Ser889Arg)
c.2016T>A (p.Ser672Arg)
c.1620T>A (p.Ser540Arg)
c.1362T>A (p.Ser454Arg)
10g.75028529T>CCA470299483DUSP29,KAT6Bc.3705T>C (p.Ser1235=)
c.3156T>C (p.Ser1052=)
c.2829T>C (p.Ser943=)
c.2640T>C (p.Ser880=)
n.577-1935A>G
c.*3622-1935A>G (n.*3622-1935A>G)
c.3543T>C (p.Ser1181=)
c.2667T>C (p.Ser889=)
c.2016T>C (p.Ser672=)
c.1620T>C (p.Ser540=)
c.1362T>C (p.Ser454=)
10g.75028529T>GCA377291426DUSP29,KAT6Bc.3705T>G (p.Ser1235Arg)
c.3156T>G (p.Ser1052Arg)
c.2829T>G (p.Ser943Arg)
c.2640T>G (p.Ser880Arg)
n.577-1935A>C
c.*3622-1935A>C (n.*3622-1935A>C)
c.3543T>G (p.Ser1181Arg)
c.2667T>G (p.Ser889Arg)
c.2016T>G (p.Ser672Arg)
c.1620T>G (p.Ser540Arg)
c.1362T>G (p.Ser454Arg)
10g.75028530A>CCA377291429DUSP29,KAT6Bc.3706A>C (p.Lys1236Gln)
c.3157A>C (p.Lys1053Gln)
c.2830A>C (p.Lys944Gln)
c.2641A>C (p.Lys881Gln)
n.577-1936T>G
c.*3622-1936T>G (n.*3622-1936T>G)
c.3544A>C (p.Lys1182Gln)
c.2668A>C (p.Lys890Gln)
c.2017A>C (p.Lys673Gln)
c.1621A>C (p.Lys541Gln)
c.1363A>C (p.Lys455Gln)
10g.75028530A>GCA377291431DUSP29,KAT6Bc.3706A>G (p.Lys1236Glu)
c.3157A>G (p.Lys1053Glu)
c.2830A>G (p.Lys944Glu)
c.2641A>G (p.Lys881Glu)
n.577-1936T>C
c.*3622-1936T>C (n.*3622-1936T>C)
c.3544A>G (p.Lys1182Glu)
c.2668A>G (p.Lys890Glu)
c.2017A>G (p.Lys673Glu)
c.1621A>G (p.Lys541Glu)
c.1363A>G (p.Lys455Glu)
 gnomAD v4
10g.75028530A>TCA377291432DUSP29,KAT6Bc.3706A>T (p.Lys1236Ter)
c.3157A>T (p.Lys1053Ter)
c.2830A>T (p.Lys944Ter)
c.2641A>T (p.Lys881Ter)
n.577-1936T>A
c.*3622-1936T>A (n.*3622-1936T>A)
c.3544A>T (p.Lys1182Ter)
c.2668A>T (p.Lys890Ter)
c.2017A>T (p.Lys673Ter)
c.1621A>T (p.Lys541Ter)
c.1363A>T (p.Lys455Ter)
10g.75028531A=CA1920306367DUSP29,KAT6Bc.3707A= (p.Lys1236=)
c.3158A= (p.Lys1053=)
c.2831A= (p.Lys944=)
c.2642A= (p.Lys881=)
n.577-1937T=
c.*3622-1937T= (n.*3622-1937T=)
c.3545A= (p.Lys1182=)
c.2669A= (p.Lys890=)
c.2018A= (p.Lys673=)
c.1622A= (p.Lys541=)
c.1364A= (p.Lys455=)
10g.75028531A>CCA377291436DUSP29,KAT6Bc.3707A>C (p.Lys1236Thr)
c.3158A>C (p.Lys1053Thr)
c.2831A>C (p.Lys944Thr)
c.2642A>C (p.Lys881Thr)
n.577-1937T>G
c.*3622-1937T>G (n.*3622-1937T>G)
c.3545A>C (p.Lys1182Thr)
c.2669A>C (p.Lys890Thr)
c.2018A>C (p.Lys673Thr)
c.1622A>C (p.Lys541Thr)
c.1364A>C (p.Lys455Thr)
10g.75028531A>GCA5564888DUSP29,KAT6Bc.3707A>G (p.Lys1236Arg)
c.3158A>G (p.Lys1053Arg)
c.2831A>G (p.Lys944Arg)
c.2642A>G (p.Lys881Arg)
n.577-1937T>C
c.*3622-1937T>C (n.*3622-1937T>C)
c.3545A>G (p.Lys1182Arg)
c.2669A>G (p.Lys890Arg)
c.2018A>G (p.Lys673Arg)
c.1622A>G (p.Lys541Arg)
c.1364A>G (p.Lys455Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.75028531A>TCA377291434DUSP29,KAT6Bc.3707A>T (p.Lys1236Ile)
c.3158A>T (p.Lys1053Ile)
c.2831A>T (p.Lys944Ile)
c.2642A>T (p.Lys881Ile)
n.577-1937T>A
c.*3622-1937T>A (n.*3622-1937T>A)
c.3545A>T (p.Lys1182Ile)
c.2669A>T (p.Lys890Ile)
c.2018A>T (p.Lys673Ile)
c.1622A>T (p.Lys541Ile)
c.1364A>T (p.Lys455Ile)
10g.75028532A>CCA377291439DUSP29,KAT6Bc.3708A>C (p.Lys1236Asn)
c.3159A>C (p.Lys1053Asn)
c.2832A>C (p.Lys944Asn)
c.2643A>C (p.Lys881Asn)
n.577-1938T>G
c.*3622-1938T>G (n.*3622-1938T>G)
c.3546A>C (p.Lys1182Asn)
c.2670A>C (p.Lys890Asn)
c.2019A>C (p.Lys673Asn)
c.1623A>C (p.Lys541Asn)
c.1365A>C (p.Lys455Asn)
10g.75028532A>GCA470299484DUSP29,KAT6Bc.3708A>G (p.Lys1236=)
c.3159A>G (p.Lys1053=)
c.2832A>G (p.Lys944=)
c.2643A>G (p.Lys881=)
n.577-1938T>C
c.*3622-1938T>C (n.*3622-1938T>C)
c.3546A>G (p.Lys1182=)
c.2670A>G (p.Lys890=)
c.2019A>G (p.Lys673=)
c.1623A>G (p.Lys541=)
c.1365A>G (p.Lys455=)
10g.75028532A>TCA377291438DUSP29,KAT6Bc.3708A>T (p.Lys1236Asn)
c.3159A>T (p.Lys1053Asn)
c.2832A>T (p.Lys944Asn)
c.2643A>T (p.Lys881Asn)
n.577-1938T>A
c.*3622-1938T>A (n.*3622-1938T>A)
c.3546A>T (p.Lys1182Asn)
c.2670A>T (p.Lys890Asn)
c.2019A>T (p.Lys673Asn)
c.1623A>T (p.Lys541Asn)
c.1365A>T (p.Lys455Asn)
10g.75028533G>ACA377291441DUSP29,KAT6Bc.3709G>A (p.Asp1237Asn)
c.3160G>A (p.Asp1054Asn)
c.2833G>A (p.Asp945Asn)
c.2644G>A (p.Asp882Asn)
n.577-1939C>T
c.*3622-1939C>T (n.*3622-1939C>T)
c.3547G>A (p.Asp1183Asn)
c.2671G>A (p.Asp891Asn)
c.2020G>A (p.Asp674Asn)
c.1624G>A (p.Asp542Asn)
c.1366G>A (p.Asp456Asn)
10g.75028533G>CCA377291443DUSP29,KAT6Bc.3709G>C (p.Asp1237His)
c.3160G>C (p.Asp1054His)
c.2833G>C (p.Asp945His)
c.2644G>C (p.Asp882His)
n.577-1939C>G
c.*3622-1939C>G (n.*3622-1939C>G)
c.3547G>C (p.Asp1183His)
c.2671G>C (p.Asp891His)
c.2020G>C (p.Asp674His)
c.1624G>C (p.Asp542His)
c.1366G>C (p.Asp456His)
10g.75028533G>TCA377291444DUSP29,KAT6Bc.3709G>T (p.Asp1237Tyr)
c.3160G>T (p.Asp1054Tyr)
c.2833G>T (p.Asp945Tyr)
c.2644G>T (p.Asp882Tyr)
n.577-1939C>A
c.*3622-1939C>A (n.*3622-1939C>A)
c.3547G>T (p.Asp1183Tyr)
c.2671G>T (p.Asp891Tyr)
c.2020G>T (p.Asp674Tyr)
c.1624G>T (p.Asp542Tyr)
c.1366G>T (p.Asp456Tyr)
10g.75028534A>CCA377291448DUSP29,KAT6Bc.3710A>C (p.Asp1237Ala)
c.3161A>C (p.Asp1054Ala)
c.2834A>C (p.Asp945Ala)
c.2645A>C (p.Asp882Ala)
n.577-1940T>G
c.*3622-1940T>G (n.*3622-1940T>G)
c.3548A>C (p.Asp1183Ala)
c.2672A>C (p.Asp891Ala)
c.2021A>C (p.Asp674Ala)
c.1625A>C (p.Asp542Ala)
c.1367A>C (p.Asp456Ala)
10g.75028534A>GCA377291449DUSP29,KAT6Bc.3710A>G (p.Asp1237Gly)
c.3161A>G (p.Asp1054Gly)
c.2834A>G (p.Asp945Gly)
c.2645A>G (p.Asp882Gly)
n.577-1940T>C
c.*3622-1940T>C (n.*3622-1940T>C)
c.3548A>G (p.Asp1183Gly)
c.2672A>G (p.Asp891Gly)
c.2021A>G (p.Asp674Gly)
c.1625A>G (p.Asp542Gly)
c.1367A>G (p.Asp456Gly)
10g.75028534A>TCA377291451DUSP29,KAT6Bc.3710A>T (p.Asp1237Val)
c.3161A>T (p.Asp1054Val)
c.2834A>T (p.Asp945Val)
c.2645A>T (p.Asp882Val)
n.577-1940T>A
c.*3622-1940T>A (n.*3622-1940T>A)
c.3548A>T (p.Asp1183Val)
c.2672A>T (p.Asp891Val)
c.2021A>T (p.Asp674Val)
c.1625A>T (p.Asp542Val)
c.1367A>T (p.Asp456Val)
10g.75028535C>ACA377291454DUSP29,KAT6Bc.3711C>A (p.Asp1237Glu)
c.3162C>A (p.Asp1054Glu)
c.2835C>A (p.Asp945Glu)
c.2646C>A (p.Asp882Glu)
n.577-1941G>T
c.*3622-1941G>T (n.*3622-1941G>T)
c.3549C>A (p.Asp1183Glu)
c.2673C>A (p.Asp891Glu)
c.2022C>A (p.Asp674Glu)
c.1626C>A (p.Asp542Glu)
c.1368C>A (p.Asp456Glu)
10g.75028535C>GCA377291455DUSP29,KAT6Bc.3711C>G (p.Asp1237Glu)
c.3162C>G (p.Asp1054Glu)
c.2835C>G (p.Asp945Glu)
c.2646C>G (p.Asp882Glu)
n.577-1941G>C
c.*3622-1941G>C (n.*3622-1941G>C)
c.3549C>G (p.Asp1183Glu)
c.2673C>G (p.Asp891Glu)
c.2022C>G (p.Asp674Glu)
c.1626C>G (p.Asp542Glu)
c.1368C>G (p.Asp456Glu)
10g.75028535C>TCA470299485DUSP29,KAT6Bc.3711C>T (p.Asp1237=)
c.3162C>T (p.Asp1054=)
c.2835C>T (p.Asp945=)
c.2646C>T (p.Asp882=)
n.577-1941G>A
c.*3622-1941G>A (n.*3622-1941G>A)
c.3549C>T (p.Asp1183=)
c.2673C>T (p.Asp891=)
c.2022C>T (p.Asp674=)
c.1626C>T (p.Asp542=)
c.1368C>T (p.Asp456=)
 dbSNP
10g.75028536A>CCA377291457DUSP29,KAT6Bc.3712A>C (p.Asn1238His)
c.3163A>C (p.Asn1055His)
c.2836A>C (p.Asn946His)
c.2647A>C (p.Asn883His)
n.577-1942T>G
c.*3622-1942T>G (n.*3622-1942T>G)
c.3550A>C (p.Asn1184His)
c.2674A>C (p.Asn892His)
c.2023A>C (p.Asn675His)
c.1627A>C (p.Asn543His)
c.1369A>C (p.Asn457His)
10g.75028536A>GCA377291459DUSP29,KAT6Bc.3712A>G (p.Asn1238Asp)
c.3163A>G (p.Asn1055Asp)
c.2836A>G (p.Asn946Asp)
c.2647A>G (p.Asn883Asp)
n.577-1942T>C
c.*3622-1942T>C (n.*3622-1942T>C)
c.3550A>G (p.Asn1184Asp)
c.2674A>G (p.Asn892Asp)
c.2023A>G (p.Asn675Asp)
c.1627A>G (p.Asn543Asp)
c.1369A>G (p.Asn457Asp)
 ClinVar
10g.75028536A>TCA377291461DUSP29,KAT6Bc.3712A>T (p.Asn1238Tyr)
c.3163A>T (p.Asn1055Tyr)
c.2836A>T (p.Asn946Tyr)
c.2647A>T (p.Asn883Tyr)
n.577-1942T>A
c.*3622-1942T>A (n.*3622-1942T>A)
c.3550A>T (p.Asn1184Tyr)
c.2674A>T (p.Asn892Tyr)
c.2023A>T (p.Asn675Tyr)
c.1627A>T (p.Asn543Tyr)
c.1369A>T (p.Asn457Tyr)
10g.75028537A>CCA377291467DUSP29,KAT6Bc.3713A>C (p.Asn1238Thr)
c.3164A>C (p.Asn1055Thr)
c.2837A>C (p.Asn946Thr)
c.2648A>C (p.Asn883Thr)
n.577-1943T>G
c.*3622-1943T>G (n.*3622-1943T>G)
c.3551A>C (p.Asn1184Thr)
c.2675A>C (p.Asn892Thr)
c.2024A>C (p.Asn675Thr)
c.1628A>C (p.Asn543Thr)
c.1370A>C (p.Asn457Thr)
10g.75028537A>GCA377291465DUSP29,KAT6Bc.3713A>G (p.Asn1238Ser)
c.3164A>G (p.Asn1055Ser)
c.2837A>G (p.Asn946Ser)
c.2648A>G (p.Asn883Ser)
n.577-1943T>C
c.*3622-1943T>C (n.*3622-1943T>C)
c.3551A>G (p.Asn1184Ser)
c.2675A>G (p.Asn892Ser)
c.2024A>G (p.Asn675Ser)
c.1628A>G (p.Asn543Ser)
c.1370A>G (p.Asn457Ser)
 gnomAD v4
10g.75028537A>TCA377291463DUSP29,KAT6Bc.3713A>T (p.Asn1238Ile)
c.3164A>T (p.Asn1055Ile)
c.2837A>T (p.Asn946Ile)
c.2648A>T (p.Asn883Ile)
n.577-1943T>A
c.*3622-1943T>A (n.*3622-1943T>A)
c.3551A>T (p.Asn1184Ile)
c.2675A>T (p.Asn892Ile)
c.2024A>T (p.Asn675Ile)
c.1628A>T (p.Asn543Ile)
c.1370A>T (p.Asn457Ile)
10g.75028538T>ACA377291469DUSP29,KAT6Bc.3714T>A (p.Asn1238Lys)
c.3165T>A (p.Asn1055Lys)
c.2838T>A (p.Asn946Lys)
c.2649T>A (p.Asn883Lys)
n.577-1944A>T
c.*3622-1944A>T (n.*3622-1944A>T)
c.3552T>A (p.Asn1184Lys)
c.2676T>A (p.Asn892Lys)
c.2025T>A (p.Asn675Lys)
c.1629T>A (p.Asn543Lys)
c.1371T>A (p.Asn457Lys)
10g.75028538T>CCA470299486DUSP29,KAT6Bc.3714T>C (p.Asn1238=)
c.3165T>C (p.Asn1055=)
c.2838T>C (p.Asn946=)
c.2649T>C (p.Asn883=)
n.577-1944A>G
c.*3622-1944A>G (n.*3622-1944A>G)
c.3552T>C (p.Asn1184=)
c.2676T>C (p.Asn892=)
c.2025T>C (p.Asn675=)
c.1629T>C (p.Asn543=)
c.1371T>C (p.Asn457=)
 dbSNP
10g.75028538T>GCA377291470DUSP29,KAT6Bc.3714T>G (p.Asn1238Lys)
c.3165T>G (p.Asn1055Lys)
c.2838T>G (p.Asn946Lys)
c.2649T>G (p.Asn883Lys)
n.577-1944A>C
c.*3622-1944A>C (n.*3622-1944A>C)
c.3552T>G (p.Asn1184Lys)
c.2676T>G (p.Asn892Lys)
c.2025T>G (p.Asn675Lys)
c.1629T>G (p.Asn543Lys)
c.1371T>G (p.Asn457Lys)
10g.75028538T=CA1920306368DUSP29,KAT6Bc.3714T= (p.Asn1238=)
c.3165T= (p.Asn1055=)
c.2838T= (p.Asn946=)
c.2649T= (p.Asn883=)
n.577-1944A=
c.*3622-1944A= (n.*3622-1944A=)
c.3552T= (p.Asn1184=)
c.2676T= (p.Asn892=)
c.2025T= (p.Asn675=)
c.1629T= (p.Asn543=)
c.1371T= (p.Asn457=)
10g.75028539C>ACA377291471DUSP29,KAT6Bc.3715C>A (p.Pro1239Thr)
c.3166C>A (p.Pro1056Thr)
c.2839C>A (p.Pro947Thr)
c.2650C>A (p.Pro884Thr)
n.577-1945G>T
c.*3622-1945G>T (n.*3622-1945G>T)
c.3553C>A (p.Pro1185Thr)
c.2677C>A (p.Pro893Thr)
c.2026C>A (p.Pro676Thr)
c.1630C>A (p.Pro544Thr)
c.1372C>A (p.Pro458Thr)
 gnomAD v4
10g.75028539C>GCA377291473DUSP29,KAT6Bc.3715C>G (p.Pro1239Ala)
c.3166C>G (p.Pro1056Ala)
c.2839C>G (p.Pro947Ala)
c.2650C>G (p.Pro884Ala)
n.577-1945G>C
c.*3622-1945G>C (n.*3622-1945G>C)
c.3553C>G (p.Pro1185Ala)
c.2677C>G (p.Pro893Ala)
c.2026C>G (p.Pro676Ala)
c.1630C>G (p.Pro544Ala)
c.1372C>G (p.Pro458Ala)
10g.75028539C>TCA377291475DUSP29,KAT6Bc.3715C>T (p.Pro1239Ser)
c.3166C>T (p.Pro1056Ser)
c.2839C>T (p.Pro947Ser)
c.2650C>T (p.Pro884Ser)
n.577-1945G>A
c.*3622-1945G>A (n.*3622-1945G>A)
c.3553C>T (p.Pro1185Ser)
c.2677C>T (p.Pro893Ser)
c.2026C>T (p.Pro676Ser)
c.1630C>T (p.Pro544Ser)
c.1372C>T (p.Pro458Ser)
 gnomAD v4
10g.75028540C>ACA377291477DUSP29,KAT6Bc.3716C>A (p.Pro1239His)
c.3167C>A (p.Pro1056His)
c.2840C>A (p.Pro947His)
c.2651C>A (p.Pro884His)
n.577-1946G>T
c.*3622-1946G>T (n.*3622-1946G>T)
c.3554C>A (p.Pro1185His)
c.2678C>A (p.Pro893His)
c.2027C>A (p.Pro676His)
c.1631C>A (p.Pro544His)
c.1373C>A (p.Pro458His)
10g.75028540C>GCA377291479DUSP29,KAT6Bc.3716C>G (p.Pro1239Arg)
c.3167C>G (p.Pro1056Arg)
c.2840C>G (p.Pro947Arg)
c.2651C>G (p.Pro884Arg)
n.577-1946G>C
c.*3622-1946G>C (n.*3622-1946G>C)
c.3554C>G (p.Pro1185Arg)
c.2678C>G (p.Pro893Arg)
c.2027C>G (p.Pro676Arg)
c.1631C>G (p.Pro544Arg)
c.1373C>G (p.Pro458Arg)
10g.75028540C>TCA377291480DUSP29,KAT6Bc.3716C>T (p.Pro1239Leu)
c.3167C>T (p.Pro1056Leu)
c.2840C>T (p.Pro947Leu)
c.2651C>T (p.Pro884Leu)
n.577-1946G>A
c.*3622-1946G>A (n.*3622-1946G>A)
c.3554C>T (p.Pro1185Leu)
c.2678C>T (p.Pro893Leu)
c.2027C>T (p.Pro676Leu)
c.1631C>T (p.Pro544Leu)
c.1373C>T (p.Pro458Leu)
10g.75028541C>ACA470299487DUSP29,KAT6Bc.3717C>A (p.Pro1239=)
c.3168C>A (p.Pro1056=)
c.2841C>A (p.Pro947=)
c.2652C>A (p.Pro884=)
n.577-1947G>T
c.*3622-1947G>T (n.*3622-1947G>T)
c.3555C>A (p.Pro1185=)
c.2679C>A (p.Pro893=)
c.2028C>A (p.Pro676=)
c.1632C>A (p.Pro544=)
c.1374C>A (p.Pro458=)
10g.75028541C=CA1920306369DUSP29,KAT6Bc.3717C= (p.Pro1239=)
c.3168C= (p.Pro1056=)
c.2841C= (p.Pro947=)
c.2652C= (p.Pro884=)
n.577-1947G=
c.*3622-1947G= (n.*3622-1947G=)
c.3555C= (p.Pro1185=)
c.2679C= (p.Pro893=)
c.2028C= (p.Pro676=)
c.1632C= (p.Pro544=)
c.1374C= (p.Pro458=)
10g.75028541C>GCA5564890DUSP29,KAT6Bc.3717C>G (p.Pro1239=)
c.3168C>G (p.Pro1056=)
c.2841C>G (p.Pro947=)
c.2652C>G (p.Pro884=)
n.577-1947G>C
c.*3622-1947G>C (n.*3622-1947G>C)
c.3555C>G (p.Pro1185=)
c.2679C>G (p.Pro893=)
c.2028C>G (p.Pro676=)
c.1632C>G (p.Pro544=)
c.1374C>G (p.Pro458=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.75028541C>TCA5564889DUSP29,KAT6Bc.3717C>T (p.Pro1239=)
c.3168C>T (p.Pro1056=)
c.2841C>T (p.Pro947=)
c.2652C>T (p.Pro884=)
n.577-1947G>A
c.*3622-1947G>A (n.*3622-1947G>A)
c.3555C>T (p.Pro1185=)
c.2679C>T (p.Pro893=)
c.2028C>T (p.Pro676=)
c.1632C>T (p.Pro544=)
c.1374C>T (p.Pro458=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.75028542G>ACA5564891DUSP29,KAT6Bc.3718G>A (p.Glu1240Lys)
c.3169G>A (p.Glu1057Lys)
c.2842G>A (p.Glu948Lys)
c.2653G>A (p.Glu885Lys)
n.577-1948C>T
c.*3622-1948C>T (n.*3622-1948C>T)
c.3556G>A (p.Glu1186Lys)
c.2680G>A (p.Glu894Lys)
c.2029G>A (p.Glu677Lys)
c.1633G>A (p.Glu545Lys)
c.1375G>A (p.Glu459Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.75028542G>CCA377291485DUSP29,KAT6Bc.3718G>C (p.Glu1240Gln)
c.3169G>C (p.Glu1057Gln)
c.2842G>C (p.Glu948Gln)
c.2653G>C (p.Glu885Gln)
n.577-1948C>G
c.*3622-1948C>G (n.*3622-1948C>G)
c.3556G>C (p.Glu1186Gln)
c.2680G>C (p.Glu894Gln)
c.2029G>C (p.Glu677Gln)
c.1633G>C (p.Glu545Gln)
c.1375G>C (p.Glu459Gln)
10g.75028542G=CA1920306370DUSP29,KAT6Bc.3718G= (p.Glu1240=)
c.3169G= (p.Glu1057=)
c.2842G= (p.Glu948=)
c.2653G= (p.Glu885=)
n.577-1948C=
c.*3622-1948C= (n.*3622-1948C=)
c.3556G= (p.Glu1186=)
c.2680G= (p.Glu894=)
c.2029G= (p.Glu677=)
c.1633G= (p.Glu545=)
c.1375G= (p.Glu459=)
10g.75028542G>TCA377291487DUSP29,KAT6Bc.3718G>T (p.Glu1240Ter)
c.3169G>T (p.Glu1057Ter)
c.2842G>T (p.Glu948Ter)
c.2653G>T (p.Glu885Ter)
n.577-1948C>A
c.*3622-1948C>A (n.*3622-1948C>A)
c.3556G>T (p.Glu1186Ter)
c.2680G>T (p.Glu894Ter)
c.2029G>T (p.Glu677Ter)
c.1633G>T (p.Glu545Ter)
c.1375G>T (p.Glu459Ter)
10g.75028543A>CCA377291492DUSP29,KAT6Bc.3719A>C (p.Glu1240Ala)
c.3170A>C (p.Glu1057Ala)
c.2843A>C (p.Glu948Ala)
c.2654A>C (p.Glu885Ala)
n.577-1949T>G
c.*3622-1949T>G (n.*3622-1949T>G)
c.3557A>C (p.Glu1186Ala)
c.2681A>C (p.Glu894Ala)
c.2030A>C (p.Glu677Ala)
c.1634A>C (p.Glu545Ala)
c.1376A>C (p.Glu459Ala)
10g.75028543A>GCA377291491DUSP29,KAT6Bc.3719A>G (p.Glu1240Gly)
c.3170A>G (p.Glu1057Gly)
c.2843A>G (p.Glu948Gly)
c.2654A>G (p.Glu885Gly)
n.577-1949T>C
c.*3622-1949T>C (n.*3622-1949T>C)
c.3557A>G (p.Glu1186Gly)
c.2681A>G (p.Glu894Gly)
c.2030A>G (p.Glu677Gly)
c.1634A>G (p.Glu545Gly)
c.1376A>G (p.Glu459Gly)
 gnomAD v4 COSMIC
10g.75028543A>TCA377291489DUSP29,KAT6Bc.3719A>T (p.Glu1240Val)
c.3170A>T (p.Glu1057Val)
c.2843A>T (p.Glu948Val)
c.2654A>T (p.Glu885Val)
n.577-1949T>A
c.*3622-1949T>A (n.*3622-1949T>A)
c.3557A>T (p.Glu1186Val)
c.2681A>T (p.Glu894Val)
c.2030A>T (p.Glu677Val)
c.1634A>T (p.Glu545Val)
c.1376A>T (p.Glu459Val)
10g.75028544A>CCA377291495DUSP29,KAT6Bc.3720A>C (p.Glu1240Asp)
c.3171A>C (p.Glu1057Asp)
c.2844A>C (p.Glu948Asp)
c.2655A>C (p.Glu885Asp)
n.577-1950T>G
c.*3622-1950T>G (n.*3622-1950T>G)
c.3558A>C (p.Glu1186Asp)
c.2682A>C (p.Glu894Asp)
c.2031A>C (p.Glu677Asp)
c.1635A>C (p.Glu545Asp)
c.1377A>C (p.Glu459Asp)
10g.75028544A>GCA470299488DUSP29,KAT6Bc.3720A>G (p.Glu1240=)
c.3171A>G (p.Glu1057=)
c.2844A>G (p.Glu948=)
c.2655A>G (p.Glu885=)
n.577-1950T>C
c.*3622-1950T>C (n.*3622-1950T>C)
c.3558A>G (p.Glu1186=)
c.2682A>G (p.Glu894=)
c.2031A>G (p.Glu677=)
c.1635A>G (p.Glu545=)
c.1377A>G (p.Glu459=)
10g.75028544A>TCA377291494DUSP29,KAT6Bc.3720A>T (p.Glu1240Asp)
c.3171A>T (p.Glu1057Asp)
c.2844A>T (p.Glu948Asp)
c.2655A>T (p.Glu885Asp)
n.577-1950T>A
c.*3622-1950T>A (n.*3622-1950T>A)
c.3558A>T (p.Glu1186Asp)
c.2682A>T (p.Glu894Asp)
c.2031A>T (p.Glu677Asp)
c.1635A>T (p.Glu545Asp)
c.1377A>T (p.Glu459Asp)
 gnomAD v4
10g.75028545C>ACA377291499DUSP29,KAT6Bc.3721C>A (p.Pro1241Thr)
c.3172C>A (p.Pro1058Thr)
c.2845C>A (p.Pro949Thr)
c.2656C>A (p.Pro886Thr)
n.577-1951G>T
c.*3622-1951G>T (n.*3622-1951G>T)
c.3559C>A (p.Pro1187Thr)
c.2683C>A (p.Pro895Thr)
c.2032C>A (p.Pro678Thr)
c.1636C>A (p.Pro546Thr)
c.1378C>A (p.Pro460Thr)
 gnomAD v4
10g.75028545C>GCA377291500DUSP29,KAT6Bc.3721C>G (p.Pro1241Ala)
c.3172C>G (p.Pro1058Ala)
c.2845C>G (p.Pro949Ala)
c.2656C>G (p.Pro886Ala)
n.577-1951G>C
c.*3622-1951G>C (n.*3622-1951G>C)
c.3559C>G (p.Pro1187Ala)
c.2683C>G (p.Pro895Ala)
c.2032C>G (p.Pro678Ala)
c.1636C>G (p.Pro546Ala)
c.1378C>G (p.Pro460Ala)
10g.75028545C>TCA377291502DUSP29,KAT6Bc.3721C>T (p.Pro1241Ser)
c.3172C>T (p.Pro1058Ser)
c.2845C>T (p.Pro949Ser)
c.2656C>T (p.Pro886Ser)
n.577-1951G>A
c.*3622-1951G>A (n.*3622-1951G>A)
c.3559C>T (p.Pro1187Ser)
c.2683C>T (p.Pro895Ser)
c.2032C>T (p.Pro678Ser)
c.1636C>T (p.Pro546Ser)
c.1378C>T (p.Pro460Ser)
10g.75028546C>ACA377291505DUSP29,KAT6Bc.3722C>A (p.Pro1241His)
c.3173C>A (p.Pro1058His)
c.2846C>A (p.Pro949His)
c.2657C>A (p.Pro886His)
n.577-1952G>T
c.*3622-1952G>T (n.*3622-1952G>T)
c.3560C>A (p.Pro1187His)
c.2684C>A (p.Pro895His)
c.2033C>A (p.Pro678His)
c.1637C>A (p.Pro546His)
c.1379C>A (p.Pro460His)
10g.75028546C>GCA377291506DUSP29,KAT6Bc.3722C>G (p.Pro1241Arg)
c.3173C>G (p.Pro1058Arg)
c.2846C>G (p.Pro949Arg)
c.2657C>G (p.Pro886Arg)
n.577-1952G>C
c.*3622-1952G>C (n.*3622-1952G>C)
c.3560C>G (p.Pro1187Arg)
c.2684C>G (p.Pro895Arg)
c.2033C>G (p.Pro678Arg)
c.1637C>G (p.Pro546Arg)
c.1379C>G (p.Pro460Arg)
 gnomAD v4
10g.75028546C>TCA377291508DUSP29,KAT6Bc.3722C>T (p.Pro1241Leu)
c.3173C>T (p.Pro1058Leu)
c.2846C>T (p.Pro949Leu)
c.2657C>T (p.Pro886Leu)
n.577-1952G>A
c.*3622-1952G>A (n.*3622-1952G>A)
c.3560C>T (p.Pro1187Leu)
c.2684C>T (p.Pro895Leu)
c.2033C>T (p.Pro678Leu)
c.1637C>T (p.Pro546Leu)
c.1379C>T (p.Pro460Leu)
10g.75028547T>ACA470299489DUSP29,KAT6Bc.3723T>A (p.Pro1241=)
c.3174T>A (p.Pro1058=)
c.2847T>A (p.Pro949=)
c.2658T>A (p.Pro886=)
n.577-1953A>T
c.*3622-1953A>T (n.*3622-1953A>T)
c.3561T>A (p.Pro1187=)
c.2685T>A (p.Pro895=)
c.2034T>A (p.Pro678=)
c.1638T>A (p.Pro546=)
c.1380T>A (p.Pro460=)
10g.75028547T>CCA470299490DUSP29,KAT6Bc.3723T>C (p.Pro1241=)
c.3174T>C (p.Pro1058=)
c.2847T>C (p.Pro949=)
c.2658T>C (p.Pro886=)
n.577-1953A>G
c.*3622-1953A>G (n.*3622-1953A>G)
c.3561T>C (p.Pro1187=)
c.2685T>C (p.Pro895=)
c.2034T>C (p.Pro678=)
c.1638T>C (p.Pro546=)
c.1380T>C (p.Pro460=)
10g.75028547T>GCA470299491DUSP29,KAT6Bc.3723T>G (p.Pro1241=)
c.3174T>G (p.Pro1058=)
c.2847T>G (p.Pro949=)
c.2658T>G (p.Pro886=)
n.577-1953A>C
c.*3622-1953A>C (n.*3622-1953A>C)
c.3561T>G (p.Pro1187=)
c.2685T>G (p.Pro895=)
c.2034T>G (p.Pro678=)
c.1638T>G (p.Pro546=)
c.1380T>G (p.Pro460=)
10g.75028548C>ACA377291510DUSP29,KAT6Bc.3724C>A (p.Leu1242Ile)
c.3175C>A (p.Leu1059Ile)
c.2848C>A (p.Leu950Ile)
c.2659C>A (p.Leu887Ile)
n.577-1954G>T
c.*3622-1954G>T (n.*3622-1954G>T)
c.3562C>A (p.Leu1188Ile)
c.2686C>A (p.Leu896Ile)
c.2035C>A (p.Leu679Ile)
c.1639C>A (p.Leu547Ile)
c.1381C>A (p.Leu461Ile)
10g.75028548C=CA1920306371DUSP29,KAT6Bc.3724C= (p.Leu1242=)
c.3175C= (p.Leu1059=)
c.2848C= (p.Leu950=)
c.2659C= (p.Leu887=)
n.577-1954G=
c.*3622-1954G= (n.*3622-1954G=)
c.3562C= (p.Leu1188=)
c.2686C= (p.Leu896=)
c.2035C= (p.Leu679=)
c.1639C= (p.Leu547=)
c.1381C= (p.Leu461=)
10g.75028548C>GCA377291512DUSP29,KAT6Bc.3724C>G (p.Leu1242Val)
c.3175C>G (p.Leu1059Val)
c.2848C>G (p.Leu950Val)
c.2659C>G (p.Leu887Val)
n.577-1954G>C
c.*3622-1954G>C (n.*3622-1954G>C)
c.3562C>G (p.Leu1188Val)
c.2686C>G (p.Leu896Val)
c.2035C>G (p.Leu679Val)
c.1639C>G (p.Leu547Val)
c.1381C>G (p.Leu461Val)
10g.75028548C>TCA470299492DUSP29,KAT6Bc.3724C>T (p.Leu1242=)
c.3175C>T (p.Leu1059=)
c.2848C>T (p.Leu950=)
c.2659C>T (p.Leu887=)
n.577-1954G>A
c.*3622-1954G>A (n.*3622-1954G>A)
c.3562C>T (p.Leu1188=)
c.2686C>T (p.Leu896=)
c.2035C>T (p.Leu679=)
c.1639C>T (p.Leu547=)
c.1381C>T (p.Leu461=)
 dbSNP
10g.75028549T>ACA377291515DUSP29,KAT6Bc.3725T>A (p.Leu1242Gln)
c.3176T>A (p.Leu1059Gln)
c.2849T>A (p.Leu950Gln)
c.2660T>A (p.Leu887Gln)
n.577-1955A>T
c.*3622-1955A>T (n.*3622-1955A>T)
c.3563T>A (p.Leu1188Gln)
c.2687T>A (p.Leu896Gln)
c.2036T>A (p.Leu679Gln)
c.1640T>A (p.Leu547Gln)
c.1382T>A (p.Leu461Gln)
10g.75028549T>CCA377291516DUSP29,KAT6Bc.3725T>C (p.Leu1242Pro)
c.3176T>C (p.Leu1059Pro)
c.2849T>C (p.Leu950Pro)
c.2660T>C (p.Leu887Pro)
n.577-1955A>G
c.*3622-1955A>G (n.*3622-1955A>G)
c.3563T>C (p.Leu1188Pro)
c.2687T>C (p.Leu896Pro)
c.2036T>C (p.Leu679Pro)
c.1640T>C (p.Leu547Pro)
c.1382T>C (p.Leu461Pro)
10g.75028549T>GCA377291517DUSP29,KAT6Bc.3725T>G (p.Leu1242Arg)
c.3176T>G (p.Leu1059Arg)
c.2849T>G (p.Leu950Arg)
c.2660T>G (p.Leu887Arg)
n.577-1955A>C
c.*3622-1955A>C (n.*3622-1955A>C)
c.3563T>G (p.Leu1188Arg)
c.2687T>G (p.Leu896Arg)
c.2036T>G (p.Leu679Arg)
c.1640T>G (p.Leu547Arg)
c.1382T>G (p.Leu461Arg)
 dbSNP gnomAD v4
10g.75028549T=CA1920306372DUSP29,KAT6Bc.3725T= (p.Leu1242=)
c.3176T= (p.Leu1059=)
c.2849T= (p.Leu950=)
c.2660T= (p.Leu887=)
n.577-1955A=
c.*3622-1955A= (n.*3622-1955A=)
c.3563T= (p.Leu1188=)
c.2687T= (p.Leu896=)
c.2036T= (p.Leu679=)
c.1640T= (p.Leu547=)
c.1382T= (p.Leu461=)
10g.75028550A=CA1920306373DUSP29,KAT6Bc.3726A= (p.Leu1242=)
c.3177A= (p.Leu1059=)
c.2850A= (p.Leu950=)
c.2661A= (p.Leu887=)
n.577-1956T=
c.*3622-1956T= (n.*3622-1956T=)
c.3564A= (p.Leu1188=)
c.2688A= (p.Leu896=)
c.2037A= (p.Leu679=)
c.1641A= (p.Leu547=)
c.1383A= (p.Leu461=)
10g.75028550A>CCA470299493DUSP29,KAT6Bc.3726A>C (p.Leu1242=)
c.3177A>C (p.Leu1059=)
c.2850A>C (p.Leu950=)
c.2661A>C (p.Leu887=)
n.577-1956T>G
c.*3622-1956T>G (n.*3622-1956T>G)
c.3564A>C (p.Leu1188=)
c.2688A>C (p.Leu896=)
c.2037A>C (p.Leu679=)
c.1641A>C (p.Leu547=)
c.1383A>C (p.Leu461=)
10g.75028550A>GCA5564892DUSP29,KAT6Bc.3726A>G (p.Leu1242=)
c.3177A>G (p.Leu1059=)
c.2850A>G (p.Leu950=)
c.2661A>G (p.Leu887=)
n.577-1956T>C
c.*3622-1956T>C (n.*3622-1956T>C)
c.3564A>G (p.Leu1188=)
c.2688A>G (p.Leu896=)
c.2037A>G (p.Leu679=)
c.1641A>G (p.Leu547=)
c.1383A>G (p.Leu461=)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.75028550A>TCA470299494DUSP29,KAT6Bc.3726A>T (p.Leu1242=)
c.3177A>T (p.Leu1059=)
c.2850A>T (p.Leu950=)
c.2661A>T (p.Leu887=)
n.577-1956T>A
c.*3622-1956T>A (n.*3622-1956T>A)
c.3564A>T (p.Leu1188=)
c.2688A>T (p.Leu896=)
c.2037A>T (p.Leu679=)
c.1641A>T (p.Leu547=)
c.1383A>T (p.Leu461=)
10g.75028551A>CCA377291524DUSP29,KAT6Bc.3727A>C (p.Lys1243Gln)
c.3178A>C (p.Lys1060Gln)
c.2851A>C (p.Lys951Gln)
c.2662A>C (p.Lys888Gln)
n.577-1957T>G
c.*3622-1957T>G (n.*3622-1957T>G)
c.3565A>C (p.Lys1189Gln)
c.2689A>C (p.Lys897Gln)
c.2038A>C (p.Lys680Gln)
c.1642A>C (p.Lys548Gln)
c.1384A>C (p.Lys462Gln)
10g.75028551A>GCA377291521DUSP29,KAT6Bc.3727A>G (p.Lys1243Glu)
c.3178A>G (p.Lys1060Glu)
c.2851A>G (p.Lys951Glu)
c.2662A>G (p.Lys888Glu)
n.577-1957T>C
c.*3622-1957T>C (n.*3622-1957T>C)
c.3565A>G (p.Lys1189Glu)
c.2689A>G (p.Lys897Glu)
c.2038A>G (p.Lys680Glu)
c.1642A>G (p.Lys548Glu)
c.1384A>G (p.Lys462Glu)
10g.75028551A>TCA377291523DUSP29,KAT6Bc.3727A>T (p.Lys1243Ter)
c.3178A>T (p.Lys1060Ter)
c.2851A>T (p.Lys951Ter)
c.2662A>T (p.Lys888Ter)
n.577-1957T>A
c.*3622-1957T>A (n.*3622-1957T>A)
c.3565A>T (p.Lys1189Ter)
c.2689A>T (p.Lys897Ter)
c.2038A>T (p.Lys680Ter)
c.1642A>T (p.Lys548Ter)
c.1384A>T (p.Lys462Ter)
10g.75028552A=CA1920306374DUSP29,KAT6Bc.3728A= (p.Lys1243=)
c.3179A= (p.Lys1060=)
c.2852A= (p.Lys951=)
c.2663A= (p.Lys888=)
n.577-1958T=
c.*3622-1958T= (n.*3622-1958T=)
c.3566A= (p.Lys1189=)
c.2690A= (p.Lys897=)
c.2039A= (p.Lys680=)
c.1643A= (p.Lys548=)
c.1385A= (p.Lys462=)
10g.75028552A>CCA377291525DUSP29,KAT6Bc.3728A>C (p.Lys1243Thr)
c.3179A>C (p.Lys1060Thr)
c.2852A>C (p.Lys951Thr)
c.2663A>C (p.Lys888Thr)
n.577-1958T>G
c.*3622-1958T>G (n.*3622-1958T>G)
c.3566A>C (p.Lys1189Thr)
c.2690A>C (p.Lys897Thr)
c.2039A>C (p.Lys680Thr)
c.1643A>C (p.Lys548Thr)
c.1385A>C (p.Lys462Thr)
10g.75028552A>GCA5564893DUSP29,KAT6Bc.3728A>G (p.Lys1243Arg)
c.3179A>G (p.Lys1060Arg)
c.2852A>G (p.Lys951Arg)
c.2663A>G (p.Lys888Arg)
n.577-1958T>C
c.*3622-1958T>C (n.*3622-1958T>C)
c.3566A>G (p.Lys1189Arg)
c.2690A>G (p.Lys897Arg)
c.2039A>G (p.Lys680Arg)
c.1643A>G (p.Lys548Arg)
c.1385A>G (p.Lys462Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.75028552A>TCA377291527DUSP29,KAT6Bc.3728A>T (p.Lys1243Met)
c.3179A>T (p.Lys1060Met)
c.2852A>T (p.Lys951Met)
c.2663A>T (p.Lys888Met)
n.577-1958T>A
c.*3622-1958T>A (n.*3622-1958T>A)
c.3566A>T (p.Lys1189Met)
c.2690A>T (p.Lys897Met)
c.2039A>T (p.Lys680Met)
c.1643A>T (p.Lys548Met)
c.1385A>T (p.Lys462Met)
10g.75028553G>ACA470299495DUSP29,KAT6Bc.3729G>A (p.Lys1243=)
c.3180G>A (p.Lys1060=)
c.2853G>A (p.Lys951=)
c.2664G>A (p.Lys888=)
n.577-1959C>T
c.*3622-1959C>T (n.*3622-1959C>T)
c.3567G>A (p.Lys1189=)
c.2691G>A (p.Lys897=)
c.2040G>A (p.Lys680=)
c.1644G>A (p.Lys548=)
c.1386G>A (p.Lys462=)
 gnomAD v4
10g.75028553G>CCA5564894DUSP29,KAT6Bc.3729G>C (p.Lys1243Asn)
c.3180G>C (p.Lys1060Asn)
c.2853G>C (p.Lys951Asn)
c.2664G>C (p.Lys888Asn)
n.577-1959C>G
c.*3622-1959C>G (n.*3622-1959C>G)
c.3567G>C (p.Lys1189Asn)
c.2691G>C (p.Lys897Asn)
c.2040G>C (p.Lys680Asn)
c.1644G>C (p.Lys548Asn)
c.1386G>C (p.Lys462Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.75028553G=CA1920306375DUSP29,KAT6Bc.3729G= (p.Lys1243=)
c.3180G= (p.Lys1060=)
c.2853G= (p.Lys951=)
c.2664G= (p.Lys888=)
n.577-1959C=
c.*3622-1959C= (n.*3622-1959C=)
c.3567G= (p.Lys1189=)
c.2691G= (p.Lys897=)
c.2040G= (p.Lys680=)
c.1644G= (p.Lys548=)
c.1386G= (p.Lys462=)
10g.75028553G>TCA377291529DUSP29,KAT6Bc.3729G>T (p.Lys1243Asn)
c.3180G>T (p.Lys1060Asn)
c.2853G>T (p.Lys951Asn)
c.2664G>T (p.Lys888Asn)
n.577-1959C>A
c.*3622-1959C>A (n.*3622-1959C>A)
c.3567G>T (p.Lys1189Asn)
c.2691G>T (p.Lys897Asn)
c.2040G>T (p.Lys680Asn)
c.1644G>T (p.Lys548Asn)
c.1386G>T (p.Lys462Asn)
 dbSNP gnomAD v2 gnomAD v4
10g.75028554T>ACA377291532DUSP29,KAT6Bc.3730T>A (p.Cys1244Ser)
c.3181T>A (p.Cys1061Ser)
c.2854T>A (p.Cys952Ser)
c.2665T>A (p.Cys889Ser)
n.577-1960A>T
c.*3622-1960A>T (n.*3622-1960A>T)
c.3568T>A (p.Cys1190Ser)
c.2692T>A (p.Cys898Ser)
c.2041T>A (p.Cys681Ser)
c.1645T>A (p.Cys549Ser)
c.1387T>A (p.Cys463Ser)
10g.75028554T>CCA5564895DUSP29,KAT6Bc.3730T>C (p.Cys1244Arg)
c.3181T>C (p.Cys1061Arg)
c.2854T>C (p.Cys952Arg)
c.2665T>C (p.Cys889Arg)
n.577-1960A>G
c.*3622-1960A>G (n.*3622-1960A>G)
c.3568T>C (p.Cys1190Arg)
c.2692T>C (p.Cys898Arg)
c.2041T>C (p.Cys681Arg)
c.1645T>C (p.Cys549Arg)
c.1387T>C (p.Cys463Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.75028554T>GCA377291534DUSP29,KAT6Bc.3730T>G (p.Cys1244Gly)
c.3181T>G (p.Cys1061Gly)
c.2854T>G (p.Cys952Gly)
c.2665T>G (p.Cys889Gly)
n.577-1960A>C
c.*3622-1960A>C (n.*3622-1960A>C)
c.3568T>G (p.Cys1190Gly)
c.2692T>G (p.Cys898Gly)
c.2041T>G (p.Cys681Gly)
c.1645T>G (p.Cys549Gly)
c.1387T>G (p.Cys463Gly)
 ClinVar dbSNP gnomAD v3 gnomAD v4
10g.75028554T=CA1920306376DUSP29,KAT6Bc.3730T= (p.Cys1244=)
c.3181T= (p.Cys1061=)
c.2854T= (p.Cys952=)
c.2665T= (p.Cys889=)
n.577-1960A=
c.*3622-1960A= (n.*3622-1960A=)
c.3568T= (p.Cys1190=)
c.2692T= (p.Cys898=)
c.2041T= (p.Cys681=)
c.1645T= (p.Cys549=)
c.1387T= (p.Cys463=)
10g.75028554_75028555insAATTACA594709541DUSP29,KAT6Bc.3730_3731insAATTA (p.Cys1244Ter)
c.3181_3182insAATTA (p.Cys1061Ter)
c.2854_2855insAATTA (p.Cys952Ter)
c.2665_2666insAATTA (p.Cys889Ter)
n.577-1961_577-1960insTAATT
c.*3622-1961_*3622-1960insTAATT (n.*3622-1961_*3622-1960insTAATT)
c.3568_3569insAATTA (p.Cys1190Ter)
c.2692_2693insAATTA (p.Cys898Ter)
c.2041_2042insAATTA (p.Cys681Ter)
c.1645_1646insAATTA (p.Cys549Ter)
c.1387_1388insAATTA (p.Cys463Ter)
 gnomAD v2
10g.75028555G>ACA377291537DUSP29,KAT6Bc.3731G>A (p.Cys1244Tyr)
c.3182G>A (p.Cys1061Tyr)
c.2855G>A (p.Cys952Tyr)
c.2666G>A (p.Cys889Tyr)
n.577-1961C>T
c.*3622-1961C>T (n.*3622-1961C>T)
c.3569G>A (p.Cys1190Tyr)
c.2693G>A (p.Cys898Tyr)
c.2042G>A (p.Cys681Tyr)
c.1646G>A (p.Cys549Tyr)
c.1388G>A (p.Cys463Tyr)
 dbSNP
10g.75028555G>CCA377291539DUSP29,KAT6Bc.3731G>C (p.Cys1244Ser)
c.3182G>C (p.Cys1061Ser)
c.2855G>C (p.Cys952Ser)
c.2666G>C (p.Cys889Ser)
n.577-1961C>G
c.*3622-1961C>G (n.*3622-1961C>G)
c.3569G>C (p.Cys1190Ser)
c.2693G>C (p.Cys898Ser)
c.2042G>C (p.Cys681Ser)
c.1646G>C (p.Cys549Ser)
c.1388G>C (p.Cys463Ser)
10g.75028555G=CA1920306377DUSP29,KAT6Bc.3731G= (p.Cys1244=)
c.3182G= (p.Cys1061=)
c.2855G= (p.Cys952=)
c.2666G= (p.Cys889=)
n.577-1961C=
c.*3622-1961C= (n.*3622-1961C=)
c.3569G= (p.Cys1190=)
c.2693G= (p.Cys898=)
c.2042G= (p.Cys681=)
c.1646G= (p.Cys549=)
c.1388G= (p.Cys463=)
10g.75028555G>TCA377291541DUSP29,KAT6Bc.3731G>T (p.Cys1244Phe)
c.3182G>T (p.Cys1061Phe)
c.2855G>T (p.Cys952Phe)
c.2666G>T (p.Cys889Phe)
n.577-1961C>A
c.*3622-1961C>A (n.*3622-1961C>A)
c.3569G>T (p.Cys1190Phe)
c.2693G>T (p.Cys898Phe)
c.2042G>T (p.Cys681Phe)
c.1646G>T (p.Cys549Phe)
c.1388G>T (p.Cys463Phe)
10g.75028556C>ACA377291543DUSP29,KAT6Bc.3732C>A (p.Cys1244Ter)
c.3183C>A (p.Cys1061Ter)
c.2856C>A (p.Cys952Ter)
c.2667C>A (p.Cys889Ter)
n.577-1962G>T
c.*3622-1962G>T (n.*3622-1962G>T)
c.3570C>A (p.Cys1190Ter)
c.2694C>A (p.Cys898Ter)
c.2043C>A (p.Cys681Ter)
c.1647C>A (p.Cys549Ter)
c.1389C>A (p.Cys463Ter)
10g.75028556C>GCA377291544DUSP29,KAT6Bc.3732C>G (p.Cys1244Trp)
c.3183C>G (p.Cys1061Trp)
c.2856C>G (p.Cys952Trp)
c.2667C>G (p.Cys889Trp)
n.577-1962G>C
c.*3622-1962G>C (n.*3622-1962G>C)
c.3570C>G (p.Cys1190Trp)
c.2694C>G (p.Cys898Trp)
c.2043C>G (p.Cys681Trp)
c.1647C>G (p.Cys549Trp)
c.1389C>G (p.Cys463Trp)
 dbSNP
10g.75028556C>TCA470299496DUSP29,KAT6Bc.3732C>T (p.Cys1244=)
c.3183C>T (p.Cys1061=)
c.2856C>T (p.Cys952=)
c.2667C>T (p.Cys889=)
n.577-1962G>A
c.*3622-1962G>A (n.*3622-1962G>A)
c.3570C>T (p.Cys1190=)
c.2694C>T (p.Cys898=)
c.2043C>T (p.Cys681=)
c.1647C>T (p.Cys549=)
c.1389C>T (p.Cys463=)
 gnomAD v4
10g.75028557A>CCA377291549DUSP29,KAT6Bc.3733A>C (p.Lys1245Gln)
c.3184A>C (p.Lys1062Gln)
c.2857A>C (p.Lys953Gln)
c.2668A>C (p.Lys890Gln)
n.577-1963T>G
c.*3622-1963T>G (n.*3622-1963T>G)
c.3571A>C (p.Lys1191Gln)
c.2695A>C (p.Lys899Gln)
c.2044A>C (p.Lys682Gln)
c.1648A>C (p.Lys550Gln)
c.1390A>C (p.Lys464Gln)
10g.75028557A>GCA377291550DUSP29,KAT6Bc.3733A>G (p.Lys1245Glu)
c.3184A>G (p.Lys1062Glu)
c.2857A>G (p.Lys953Glu)
c.2668A>G (p.Lys890Glu)
n.577-1963T>C
c.*3622-1963T>C (n.*3622-1963T>C)
c.3571A>G (p.Lys1191Glu)
c.2695A>G (p.Lys899Glu)
c.2044A>G (p.Lys682Glu)
c.1648A>G (p.Lys550Glu)
c.1390A>G (p.Lys464Glu)
 gnomAD v4
10g.75028557A>TCA377291547DUSP29,KAT6Bc.3733A>T (p.Lys1245Ter)
c.3184A>T (p.Lys1062Ter)
c.2857A>T (p.Lys953Ter)
c.2668A>T (p.Lys890Ter)
n.577-1963T>A
c.*3622-1963T>A (n.*3622-1963T>A)
c.3571A>T (p.Lys1191Ter)
c.2695A>T (p.Lys899Ter)
c.2044A>T (p.Lys682Ter)
c.1648A>T (p.Lys550Ter)
c.1390A>T (p.Lys464Ter)
10g.75028558A>CCA377291552DUSP29,KAT6Bc.3734A>C (p.Lys1245Thr)
c.3185A>C (p.Lys1062Thr)
c.2858A>C (p.Lys953Thr)
c.2669A>C (p.Lys890Thr)
n.577-1964T>G
c.*3622-1964T>G (n.*3622-1964T>G)
c.3572A>C (p.Lys1191Thr)
c.2696A>C (p.Lys899Thr)
c.2045A>C (p.Lys682Thr)
c.1649A>C (p.Lys550Thr)
c.1391A>C (p.Lys464Thr)
10g.75028558A>GCA377291555DUSP29,KAT6Bc.3734A>G (p.Lys1245Arg)
c.3185A>G (p.Lys1062Arg)
c.2858A>G (p.Lys953Arg)
c.2669A>G (p.Lys890Arg)
n.577-1964T>C
c.*3622-1964T>C (n.*3622-1964T>C)
c.3572A>G (p.Lys1191Arg)
c.2696A>G (p.Lys899Arg)
c.2045A>G (p.Lys682Arg)
c.1649A>G (p.Lys550Arg)
c.1391A>G (p.Lys464Arg)
10g.75028558A>TCA377291554DUSP29,KAT6Bc.3734A>T (p.Lys1245Ile)
c.3185A>T (p.Lys1062Ile)
c.2858A>T (p.Lys953Ile)
c.2669A>T (p.Lys890Ile)
n.577-1964T>A
c.*3622-1964T>A (n.*3622-1964T>A)
c.3572A>T (p.Lys1191Ile)
c.2696A>T (p.Lys899Ile)
c.2045A>T (p.Lys682Ile)
c.1649A>T (p.Lys550Ile)
c.1391A>T (p.Lys464Ile)
 dbSNP
10g.75028559A>CCA377291556DUSP29,KAT6Bc.3735A>C (p.Lys1245Asn)
c.3186A>C (p.Lys1062Asn)
c.2859A>C (p.Lys953Asn)
c.2670A>C (p.Lys890Asn)
n.577-1965T>G
c.*3622-1965T>G (n.*3622-1965T>G)
c.3573A>C (p.Lys1191Asn)
c.2697A>C (p.Lys899Asn)
c.2046A>C (p.Lys682Asn)
c.1650A>C (p.Lys550Asn)
c.1392A>C (p.Lys464Asn)
10g.75028559A>GCA470299497DUSP29,KAT6Bc.3735A>G (p.Lys1245=)
c.3186A>G (p.Lys1062=)
c.2859A>G (p.Lys953=)
c.2670A>G (p.Lys890=)
n.577-1965T>C
c.*3622-1965T>C (n.*3622-1965T>C)
c.3573A>G (p.Lys1191=)
c.2697A>G (p.Lys899=)
c.2046A>G (p.Lys682=)
c.1650A>G (p.Lys550=)
c.1392A>G (p.Lys464=)
10g.75028559A>TCA377291558DUSP29,KAT6Bc.3735A>T (p.Lys1245Asn)
c.3186A>T (p.Lys1062Asn)
c.2859A>T (p.Lys953Asn)
c.2670A>T (p.Lys890Asn)
n.577-1965T>A
c.*3622-1965T>A (n.*3622-1965T>A)
c.3573A>T (p.Lys1191Asn)
c.2697A>T (p.Lys899Asn)
c.2046A>T (p.Lys682Asn)
c.1650A>T (p.Lys550Asn)
c.1392A>T (p.Lys464Asn)
10g.75028560C>ACA377291561DUSP29,KAT6Bc.3736C>A (p.Gln1246Lys)
c.3187C>A (p.Gln1063Lys)
c.2860C>A (p.Gln954Lys)
c.2671C>A (p.Gln891Lys)
n.577-1966G>T
c.*3622-1966G>T (n.*3622-1966G>T)
c.3574C>A (p.Gln1192Lys)
c.2698C>A (p.Gln900Lys)
c.2047C>A (p.Gln683Lys)
c.1651C>A (p.Gln551Lys)
c.1393C>A (p.Gln465Lys)
10g.75028560C>GCA377291562DUSP29,KAT6Bc.3736C>G (p.Gln1246Glu)
c.3187C>G (p.Gln1063Glu)
c.2860C>G (p.Gln954Glu)
c.2671C>G (p.Gln891Glu)
n.577-1966G>C
c.*3622-1966G>C (n.*3622-1966G>C)
c.3574C>G (p.Gln1192Glu)
c.2698C>G (p.Gln900Glu)
c.2047C>G (p.Gln683Glu)
c.1651C>G (p.Gln551Glu)
c.1393C>G (p.Gln465Glu)
10g.75028560C>TCA377291563DUSP29,KAT6Bc.3736C>T (p.Gln1246Ter)
c.3187C>T (p.Gln1063Ter)
c.2860C>T (p.Gln954Ter)
c.2671C>T (p.Gln891Ter)
n.577-1966G>A
c.*3622-1966G>A (n.*3622-1966G>A)
c.3574C>T (p.Gln1192Ter)
c.2698C>T (p.Gln900Ter)
c.2047C>T (p.Gln683Ter)
c.1651C>T (p.Gln551Ter)
c.1393C>T (p.Gln465Ter)
10g.75028561A=CA1920306378DUSP29,KAT6Bc.3737A= (p.Gln1246=)
c.3188A= (p.Gln1063=)
c.2861A= (p.Gln954=)
c.2672A= (p.Gln891=)
n.577-1967T=
c.*3622-1967T= (n.*3622-1967T=)
c.3575A= (p.Gln1192=)
c.2699A= (p.Gln900=)
c.2048A= (p.Gln683=)
c.1652A= (p.Gln551=)
c.1394A= (p.Gln465=)
10g.75028561A>CCA377291567DUSP29,KAT6Bc.3737A>C (p.Gln1246Pro)
c.3188A>C (p.Gln1063Pro)
c.2861A>C (p.Gln954Pro)
c.2672A>C (p.Gln891Pro)
n.577-1967T>G
c.*3622-1967T>G (n.*3622-1967T>G)
c.3575A>C (p.Gln1192Pro)
c.2699A>C (p.Gln900Pro)
c.2048A>C (p.Gln683Pro)
c.1652A>C (p.Gln551Pro)
c.1394A>C (p.Gln465Pro)
 dbSNP
10g.75028561A>GCA377291568DUSP29,KAT6Bc.3737A>G (p.Gln1246Arg)
c.3188A>G (p.Gln1063Arg)
c.2861A>G (p.Gln954Arg)
c.2672A>G (p.Gln891Arg)
n.577-1967T>C
c.*3622-1967T>C (n.*3622-1967T>C)
c.3575A>G (p.Gln1192Arg)
c.2699A>G (p.Gln900Arg)
c.2048A>G (p.Gln683Arg)
c.1652A>G (p.Gln551Arg)
c.1394A>G (p.Gln465Arg)
 ClinVar dbSNP gnomAD v3 gnomAD v4
10g.75028561A>TCA377291571DUSP29,KAT6Bc.3737A>T (p.Gln1246Leu)
c.3188A>T (p.Gln1063Leu)
c.2861A>T (p.Gln954Leu)
c.2672A>T (p.Gln891Leu)
n.577-1967T>A
c.*3622-1967T>A (n.*3622-1967T>A)
c.3575A>T (p.Gln1192Leu)
c.2699A>T (p.Gln900Leu)
c.2048A>T (p.Gln683Leu)
c.1652A>T (p.Gln551Leu)
c.1394A>T (p.Gln465Leu)
10g.75028562A>CCA377291573DUSP29,KAT6Bc.3738A>C (p.Gln1246His)
c.3189A>C (p.Gln1063His)
c.2862A>C (p.Gln954His)
c.2673A>C (p.Gln891His)
n.577-1968T>G
c.*3622-1968T>G (n.*3622-1968T>G)
c.3576A>C (p.Gln1192His)
c.2700A>C (p.Gln900His)
c.2049A>C (p.Gln683His)
c.1653A>C (p.Gln551His)
c.1395A>C (p.Gln465His)
10g.75028562A>GCA470299498DUSP29,KAT6Bc.3738A>G (p.Gln1246=)
c.3189A>G (p.Gln1063=)
c.2862A>G (p.Gln954=)
c.2673A>G (p.Gln891=)
n.577-1968T>C
c.*3622-1968T>C (n.*3622-1968T>C)
c.3576A>G (p.Gln1192=)
c.2700A>G (p.Gln900=)
c.2049A>G (p.Gln683=)
c.1653A>G (p.Gln551=)
c.1395A>G (p.Gln465=)
 gnomAD v4
10g.75028562A>TCA377291575DUSP29,KAT6Bc.3738A>T (p.Gln1246His)
c.3189A>T (p.Gln1063His)
c.2862A>T (p.Gln954His)
c.2673A>T (p.Gln891His)
n.577-1968T>A
c.*3622-1968T>A (n.*3622-1968T>A)
c.3576A>T (p.Gln1192His)
c.2700A>T (p.Gln900His)
c.2049A>T (p.Gln683His)
c.1653A>T (p.Gln551His)
c.1395A>T (p.Gln465His)
10g.75028563G>ACA377291581DUSP29,KAT6Bc.3739G>A (p.Val1247Met)
c.3190G>A (p.Val1064Met)
c.2863G>A (p.Val955Met)
c.2674G>A (p.Val892Met)
n.577-1969C>T
c.*3622-1969C>T (n.*3622-1969C>T)
c.3577G>A (p.Val1193Met)
c.2701G>A (p.Val901Met)
c.2050G>A (p.Val684Met)
c.1654G>A (p.Val552Met)
c.1396G>A (p.Val466Met)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.75028563G>CCA377291579DUSP29,KAT6Bc.3739G>C (p.Val1247Leu)
c.3190G>C (p.Val1064Leu)
c.2863G>C (p.Val955Leu)
c.2674G>C (p.Val892Leu)
n.577-1969C>G
c.*3622-1969C>G (n.*3622-1969C>G)
c.3577G>C (p.Val1193Leu)
c.2701G>C (p.Val901Leu)
c.2050G>C (p.Val684Leu)
c.1654G>C (p.Val552Leu)
c.1396G>C (p.Val466Leu)
10g.75028563G=CA1920306379DUSP29,KAT6Bc.3739G= (p.Val1247=)
c.3190G= (p.Val1064=)
c.2863G= (p.Val955=)
c.2674G= (p.Val892=)
n.577-1969C=
c.*3622-1969C= (n.*3622-1969C=)
c.3577G= (p.Val1193=)
c.2701G= (p.Val901=)
c.2050G= (p.Val684=)
c.1654G= (p.Val552=)
c.1396G= (p.Val466=)
10g.75028563G>TCA377291577DUSP29,KAT6Bc.3739G>T (p.Val1247Leu)
c.3190G>T (p.Val1064Leu)
c.2863G>T (p.Val955Leu)
c.2674G>T (p.Val892Leu)
n.577-1969C>A
c.*3622-1969C>A (n.*3622-1969C>A)
c.3577G>T (p.Val1193Leu)
c.2701G>T (p.Val901Leu)
c.2050G>T (p.Val684Leu)
c.1654G>T (p.Val552Leu)
c.1396G>T (p.Val466Leu)
10g.75028564T>ACA377291583DUSP29,KAT6Bc.3740T>A (p.Val1247Glu)
c.3191T>A (p.Val1064Glu)
c.2864T>A (p.Val955Glu)
c.2675T>A (p.Val892Glu)
n.577-1970A>T
c.*3622-1970A>T (n.*3622-1970A>T)
c.3578T>A (p.Val1193Glu)
c.2702T>A (p.Val901Glu)
c.2051T>A (p.Val684Glu)
c.1655T>A (p.Val552Glu)
c.1397T>A (p.Val466Glu)
10g.75028564T>CCA5564896DUSP29,KAT6Bc.3740T>C (p.Val1247Ala)
c.3191T>C (p.Val1064Ala)
c.2864T>C (p.Val955Ala)
c.2675T>C (p.Val892Ala)
n.577-1970A>G
c.*3622-1970A>G (n.*3622-1970A>G)
c.3578T>C (p.Val1193Ala)
c.2702T>C (p.Val901Ala)
c.2051T>C (p.Val684Ala)
c.1655T>C (p.Val552Ala)
c.1397T>C (p.Val466Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
10g.75028564T>GCA377291586DUSP29,KAT6Bc.3740T>G (p.Val1247Gly)
c.3191T>G (p.Val1064Gly)
c.2864T>G (p.Val955Gly)
c.2675T>G (p.Val892Gly)
n.577-1970A>C
c.*3622-1970A>C (n.*3622-1970A>C)
c.3578T>G (p.Val1193Gly)
c.2702T>G (p.Val901Gly)
c.2051T>G (p.Val684Gly)
c.1655T>G (p.Val552Gly)
c.1397T>G (p.Val466Gly)
10g.75028564T=CA1920306380DUSP29,KAT6Bc.3740T= (p.Val1247=)
c.3191T= (p.Val1064=)
c.2864T= (p.Val955=)
c.2675T= (p.Val892=)
n.577-1970A=
c.*3622-1970A= (n.*3622-1970A=)
c.3578T= (p.Val1193=)
c.2702T= (p.Val901=)
c.2051T= (p.Val684=)
c.1655T= (p.Val552=)
c.1397T= (p.Val466=)
10g.75028565G>ACA209709010DUSP29,KAT6Bc.3741G>A (p.Val1247=)
c.3192G>A (p.Val1064=)
c.2865G>A (p.Val955=)
c.2676G>A (p.Val892=)
n.577-1971C>T
c.*3622-1971C>T (n.*3622-1971C>T)
c.3579G>A (p.Val1193=)
c.2703G>A (p.Val901=)
c.2052G>A (p.Val684=)
c.1656G>A (p.Val552=)
c.1398G>A (p.Val466=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
10g.75028565G>CCA470299499DUSP29,KAT6Bc.3741G>C (p.Val1247=)
c.3192G>C (p.Val1064=)
c.2865G>C (p.Val955=)
c.2676G>C (p.Val892=)
n.577-1971C>G
c.*3622-1971C>G (n.*3622-1971C>G)
c.3579G>C (p.Val1193=)
c.2703G>C (p.Val901=)
c.2052G>C (p.Val684=)
c.1656G>C (p.Val552=)
c.1398G>C (p.Val466=)
10g.75028565G=CA1920306381DUSP29,KAT6Bc.3741G= (p.Val1247=)
c.3192G= (p.Val1064=)
c.2865G= (p.Val955=)
c.2676G= (p.Val892=)
n.577-1971C=
c.*3622-1971C= (n.*3622-1971C=)
c.3579G= (p.Val1193=)
c.2703G= (p.Val901=)
c.2052G= (p.Val684=)
c.1656G= (p.Val552=)
c.1398G= (p.Val466=)
10g.75028565G>TCA470299500DUSP29,KAT6Bc.3741G>T (p.Val1247=)
c.3192G>T (p.Val1064=)
c.2865G>T (p.Val955=)
c.2676G>T (p.Val892=)
n.577-1971C>A
c.*3622-1971C>A (n.*3622-1971C>A)
c.3579G>T (p.Val1193=)
c.2703G>T (p.Val901=)
c.2052G>T (p.Val684=)
c.1656G>T (p.Val552=)
c.1398G>T (p.Val466=)
10g.75028566T>ACA377291587DUSP29,KAT6Bc.3742T>A (p.Trp1248Arg)
c.3193T>A (p.Trp1065Arg)
c.2866T>A (p.Trp956Arg)
c.2677T>A (p.Trp893Arg)
n.577-1972A>T
c.*3622-1972A>T (n.*3622-1972A>T)
c.3580T>A (p.Trp1194Arg)
c.2704T>A (p.Trp902Arg)
c.2053T>A (p.Trp685Arg)
c.1657T>A (p.Trp553Arg)
c.1399T>A (p.Trp467Arg)
10g.75028566T>CCA377291589DUSP29,KAT6Bc.3742T>C (p.Trp1248Arg)
c.3193T>C (p.Trp1065Arg)
c.2866T>C (p.Trp956Arg)
c.2677T>C (p.Trp893Arg)
n.577-1972A>G
c.*3622-1972A>G (n.*3622-1972A>G)
c.3580T>C (p.Trp1194Arg)
c.2704T>C (p.Trp902Arg)
c.2053T>C (p.Trp685Arg)
c.1657T>C (p.Trp553Arg)
c.1399T>C (p.Trp467Arg)
10g.75028566T>GCA377291591DUSP29,KAT6Bc.3742T>G (p.Trp1248Gly)
c.3193T>G (p.Trp1065Gly)
c.2866T>G (p.Trp956Gly)
c.2677T>G (p.Trp893Gly)
n.577-1972A>C
c.*3622-1972A>C (n.*3622-1972A>C)
c.3580T>G (p.Trp1194Gly)
c.2704T>G (p.Trp902Gly)
c.2053T>G (p.Trp685Gly)
c.1657T>G (p.Trp553Gly)
c.1399T>G (p.Trp467Gly)
10g.75028567G>ACA377291593DUSP29,KAT6Bc.3743G>A (p.Trp1248Ter)
c.3194G>A (p.Trp1065Ter)
c.2867G>A (p.Trp956Ter)
c.2678G>A (p.Trp893Ter)
n.577-1973C>T
c.*3622-1973C>T (n.*3622-1973C>T)
c.3581G>A (p.Trp1194Ter)
c.2705G>A (p.Trp902Ter)
c.2054G>A (p.Trp685Ter)
c.1658G>A (p.Trp553Ter)
c.1400G>A (p.Trp467Ter)
10g.75028567G>CCA377291595DUSP29,KAT6Bc.3743G>C (p.Trp1248Ser)
c.3194G>C (p.Trp1065Ser)
c.2867G>C (p.Trp956Ser)
c.2678G>C (p.Trp893Ser)
n.577-1973C>G
c.*3622-1973C>G (n.*3622-1973C>G)
c.3581G>C (p.Trp1194Ser)
c.2705G>C (p.Trp902Ser)
c.2054G>C (p.Trp685Ser)
c.1658G>C (p.Trp553Ser)
c.1400G>C (p.Trp467Ser)
10g.75028567G>TCA377291597DUSP29,KAT6Bc.3743G>T (p.Trp1248Leu)
c.3194G>T (p.Trp1065Leu)
c.2867G>T (p.Trp956Leu)
c.2678G>T (p.Trp893Leu)
n.577-1973C>A
c.*3622-1973C>A (n.*3622-1973C>A)
c.3581G>T (p.Trp1194Leu)
c.2705G>T (p.Trp902Leu)
c.2054G>T (p.Trp685Leu)
c.1658G>T (p.Trp553Leu)
c.1400G>T (p.Trp467Leu)
10g.75028568G>ACA377291599DUSP29,KAT6Bc.3744G>A (p.Trp1248Ter)
c.3195G>A (p.Trp1065Ter)
c.2868G>A (p.Trp956Ter)
c.2679G>A (p.Trp893Ter)
n.577-1974C>T
c.*3622-1974C>T (n.*3622-1974C>T)
c.3582G>A (p.Trp1194Ter)
c.2706G>A (p.Trp902Ter)
c.2055G>A (p.Trp685Ter)
c.1659G>A (p.Trp553Ter)
c.1401G>A (p.Trp467Ter)
10g.75028568G>CCA377291601DUSP29,KAT6Bc.3744G>C (p.Trp1248Cys)
c.3195G>C (p.Trp1065Cys)
c.2868G>C (p.Trp956Cys)
c.2679G>C (p.Trp893Cys)
n.577-1974C>G
c.*3622-1974C>G (n.*3622-1974C>G)
c.3582G>C (p.Trp1194Cys)
c.2706G>C (p.Trp902Cys)
c.2055G>C (p.Trp685Cys)
c.1659G>C (p.Trp553Cys)
c.1401G>C (p.Trp467Cys)
10g.75028568G>TCA377291603DUSP29,KAT6Bc.3744G>T (p.Trp1248Cys)
c.3195G>T (p.Trp1065Cys)
c.2868G>T (p.Trp956Cys)
c.2679G>T (p.Trp893Cys)
n.577-1974C>A
c.*3622-1974C>A (n.*3622-1974C>A)
c.3582G>T (p.Trp1194Cys)
c.2706G>T (p.Trp902Cys)
c.2055G>T (p.Trp685Cys)
c.1659G>T (p.Trp553Cys)
c.1401G>T (p.Trp467Cys)
10g.75028569C>ACA377291607DUSP29,KAT6Bc.3745C>A (p.Pro1249Thr)
c.3196C>A (p.Pro1066Thr)
c.2869C>A (p.Pro957Thr)
c.2680C>A (p.Pro894Thr)
n.577-1975G>T
c.*3622-1975G>T (n.*3622-1975G>T)
c.3583C>A (p.Pro1195Thr)
c.2707C>A (p.Pro903Thr)
c.2056C>A (p.Pro686Thr)
c.1660C>A (p.Pro554Thr)
c.1402C>A (p.Pro468Thr)
10g.75028569C=CA1920306382DUSP29,KAT6Bc.3745C= (p.Pro1249=)
c.3196C= (p.Pro1066=)
c.2869C= (p.Pro957=)
c.2680C= (p.Pro894=)
n.577-1975G=
c.*3622-1975G= (n.*3622-1975G=)
c.3583C= (p.Pro1195=)
c.2707C= (p.Pro903=)
c.2056C= (p.Pro686=)
c.1660C= (p.Pro554=)
c.1402C= (p.Pro468=)
10g.75028569C>GCA377291609DUSP29,KAT6Bc.3745C>G (p.Pro1249Ala)
c.3196C>G (p.Pro1066Ala)
c.2869C>G (p.Pro957Ala)
c.2680C>G (p.Pro894Ala)
n.577-1975G>C
c.*3622-1975G>C (n.*3622-1975G>C)
c.3583C>G (p.Pro1195Ala)
c.2707C>G (p.Pro903Ala)
c.2056C>G (p.Pro686Ala)
c.1660C>G (p.Pro554Ala)
c.1402C>G (p.Pro468Ala)
10g.75028569C>TCA377291605DUSP29,KAT6Bc.3745C>T (p.Pro1249Ser)
c.3196C>T (p.Pro1066Ser)
c.2869C>T (p.Pro957Ser)
c.2680C>T (p.Pro894Ser)
n.577-1975G>A
c.*3622-1975G>A (n.*3622-1975G>A)
c.3583C>T (p.Pro1195Ser)
c.2707C>T (p.Pro903Ser)
c.2056C>T (p.Pro686Ser)
c.1660C>T (p.Pro554Ser)
c.1402C>T (p.Pro468Ser)
 dbSNP gnomAD v3 gnomAD v4
10g.75028570C>ACA377291612DUSP29,KAT6Bc.3746C>A (p.Pro1249Gln)
c.3197C>A (p.Pro1066Gln)
c.2870C>A (p.Pro957Gln)
c.2681C>A (p.Pro894Gln)
n.577-1976G>T
c.*3622-1976G>T (n.*3622-1976G>T)
c.3584C>A (p.Pro1195Gln)
c.2708C>A (p.Pro903Gln)
c.2057C>A (p.Pro686Gln)
c.1661C>A (p.Pro554Gln)
c.1403C>A (p.Pro468Gln)
10g.75028570C=CA1920306383DUSP29,KAT6Bc.3746C= (p.Pro1249=)
c.3197C= (p.Pro1066=)
c.2870C= (p.Pro957=)
c.2681C= (p.Pro894=)
n.577-1976G=
c.*3622-1976G= (n.*3622-1976G=)
c.3584C= (p.Pro1195=)
c.2708C= (p.Pro903=)
c.2057C= (p.Pro686=)
c.1661C= (p.Pro554=)
c.1403C= (p.Pro468=)
10g.75028570C>GCA377291613DUSP29,KAT6Bc.3746C>G (p.Pro1249Arg)
c.3197C>G (p.Pro1066Arg)
c.2870C>G (p.Pro957Arg)
c.2681C>G (p.Pro894Arg)
n.577-1976G>C
c.*3622-1976G>C (n.*3622-1976G>C)
c.3584C>G (p.Pro1195Arg)
c.2708C>G (p.Pro903Arg)
c.2057C>G (p.Pro686Arg)
c.1661C>G (p.Pro554Arg)
c.1403C>G (p.Pro468Arg)
10g.75028570C>TCA377291615DUSP29,KAT6Bc.3746C>T (p.Pro1249Leu)
c.3197C>T (p.Pro1066Leu)
c.2870C>T (p.Pro957Leu)
c.2681C>T (p.Pro894Leu)
n.577-1976G>A
c.*3622-1976G>A (n.*3622-1976G>A)
c.3584C>T (p.Pro1195Leu)
c.2708C>T (p.Pro903Leu)
c.2057C>T (p.Pro686Leu)
c.1661C>T (p.Pro554Leu)
c.1403C>T (p.Pro468Leu)
 dbSNP gnomAD v4
10g.75028571A>CCA470299503DUSP29,KAT6Bc.3747A>C (p.Pro1249=)
c.3198A>C (p.Pro1066=)
c.2871A>C (p.Pro957=)
c.2682A>C (p.Pro894=)
n.577-1977T>G
c.*3622-1977T>G (n.*3622-1977T>G)
c.3585A>C (p.Pro1195=)
c.2709A>C (p.Pro903=)
c.2058A>C (p.Pro686=)
c.1662A>C (p.Pro554=)
c.1404A>C (p.Pro468=)
10g.75028571A>GCA470299502DUSP29,KAT6Bc.3747A>G (p.Pro1249=)
c.3198A>G (p.Pro1066=)
c.2871A>G (p.Pro957=)
c.2682A>G (p.Pro894=)
n.577-1977T>C
c.*3622-1977T>C (n.*3622-1977T>C)
c.3585A>G (p.Pro1195=)
c.2709A>G (p.Pro903=)
c.2058A>G (p.Pro686=)
c.1662A>G (p.Pro554=)
c.1404A>G (p.Pro468=)
10g.75028571A>TCA470299501DUSP29,KAT6Bc.3747A>T (p.Pro1249=)
c.3198A>T (p.Pro1066=)
c.2871A>T (p.Pro957=)
c.2682A>T (p.Pro894=)
n.577-1977T>A
c.*3622-1977T>A (n.*3622-1977T>A)
c.3585A>T (p.Pro1195=)
c.2709A>T (p.Pro903=)
c.2058A>T (p.Pro686=)
c.1662A>T (p.Pro554=)
c.1404A>T (p.Pro468=)
10g.75028574delCA2695212196DUSP29,KAT6Bc.3750del (p.Gly1251GlufsTer21)
c.3201del (p.Gly1068GlufsTer21)
c.2874del (p.Gly959GlufsTer21)
c.2685del (p.Gly896GlufsTer21)
n.577-1977del
c.*3622-1977del (n.*3622-1977del)
c.3588del (p.Gly1197GlufsTer21)
c.2712del (p.Gly905GlufsTer21)
c.2061del (p.Gly688GlufsTer21)
c.1665del (p.Gly556GlufsTer21)
c.1407del (p.Gly470GlufsTer21)
 dbSNP
10g.75028572A>CCA377291618DUSP29,KAT6Bc.3748A>C (p.Lys1250Gln)
c.3199A>C (p.Lys1067Gln)
c.2872A>C (p.Lys958Gln)
c.2683A>C (p.Lys895Gln)
n.577-1978T>G
c.*3622-1978T>G (n.*3622-1978T>G)
c.3586A>C (p.Lys1196Gln)
c.2710A>C (p.Lys904Gln)
c.2059A>C (p.Lys687Gln)
c.1663A>C (p.Lys555Gln)
c.1405A>C (p.Lys469Gln)
10g.75028572A>GCA377291619DUSP29,KAT6Bc.3748A>G (p.Lys1250Glu)
c.3199A>G (p.Lys1067Glu)
c.2872A>G (p.Lys958Glu)
c.2683A>G (p.Lys895Glu)
n.577-1978T>C
c.*3622-1978T>C (n.*3622-1978T>C)
c.3586A>G (p.Lys1196Glu)
c.2710A>G (p.Lys904Glu)
c.2059A>G (p.Lys687Glu)
c.1663A>G (p.Lys555Glu)
c.1405A>G (p.Lys469Glu)
10g.75028572A>TCA377291621DUSP29,KAT6Bc.3748A>T (p.Lys1250Ter)
c.3199A>T (p.Lys1067Ter)
c.2872A>T (p.Lys958Ter)
c.2683A>T (p.Lys895Ter)
n.577-1978T>A
c.*3622-1978T>A (n.*3622-1978T>A)
c.3586A>T (p.Lys1196Ter)
c.2710A>T (p.Lys904Ter)
c.2059A>T (p.Lys687Ter)
c.1663A>T (p.Lys555Ter)
c.1405A>T (p.Lys469Ter)
10g.75028576_75028583delCA2695212197DUSP29,KAT6Bc.3752_3759del (p.Gly1251AlafsTer5)
c.3203_3210del (p.Gly1068AlafsTer5)
c.2876_2883del (p.Gly959AlafsTer5)
c.2687_2694del (p.Gly896AlafsTer5)
n.577-1985_577-1978del
c.*3622-1985_*3622-1978del (n.*3622-1985_*3622-1978del)
c.3590_3597del (p.Gly1197AlafsTer5)
c.2714_2721del (p.Gly905AlafsTer5)
c.2063_2070del (p.Gly688AlafsTer5)
c.1667_1674del (p.Gly556AlafsTer5)
c.1409_1416del (p.Gly470AlafsTer5)
10g.75028573A=CA1920306384DUSP29,KAT6Bc.3749A= (p.Lys1250=)
c.3200A= (p.Lys1067=)
c.2873A= (p.Lys958=)
c.2684A= (p.Lys895=)
n.577-1979T=
c.*3622-1979T= (n.*3622-1979T=)
c.3587A= (p.Lys1196=)
c.2711A= (p.Lys904=)
c.2060A= (p.Lys687=)
c.1664A= (p.Lys555=)
c.1406A= (p.Lys469=)
10g.75028573A>CCA377291625DUSP29,KAT6Bc.3749A>C (p.Lys1250Thr)
c.3200A>C (p.Lys1067Thr)
c.2873A>C (p.Lys958Thr)
c.2684A>C (p.Lys895Thr)
n.577-1979T>G
c.*3622-1979T>G (n.*3622-1979T>G)
c.3587A>C (p.Lys1196Thr)
c.2711A>C (p.Lys904Thr)
c.2060A>C (p.Lys687Thr)
c.1664A>C (p.Lys555Thr)
c.1406A>C (p.Lys469Thr)
10g.75028573A>GCA377291623DUSP29,KAT6Bc.3749A>G (p.Lys1250Arg)
c.3200A>G (p.Lys1067Arg)
c.2873A>G (p.Lys958Arg)
c.2684A>G (p.Lys895Arg)
n.577-1979T>C
c.*3622-1979T>C (n.*3622-1979T>C)
c.3587A>G (p.Lys1196Arg)
c.2711A>G (p.Lys904Arg)
c.2060A>G (p.Lys687Arg)
c.1664A>G (p.Lys555Arg)
c.1406A>G (p.Lys469Arg)
 dbSNP
10g.75028573A>TCA377291624DUSP29,KAT6Bc.3749A>T (p.Lys1250Ile)
c.3200A>T (p.Lys1067Ile)
c.2873A>T (p.Lys958Ile)
c.2684A>T (p.Lys895Ile)
n.577-1979T>A
c.*3622-1979T>A (n.*3622-1979T>A)
c.3587A>T (p.Lys1196Ile)
c.2711A>T (p.Lys904Ile)
c.2060A>T (p.Lys687Ile)
c.1664A>T (p.Lys555Ile)
c.1406A>T (p.Lys469Ile)
10g.75028574A>CCA377291628DUSP29,KAT6Bc.3750A>C (p.Lys1250Asn)
c.3201A>C (p.Lys1067Asn)
c.2874A>C (p.Lys958Asn)
c.2685A>C (p.Lys895Asn)
n.577-1980T>G
c.*3622-1980T>G (n.*3622-1980T>G)
c.3588A>C (p.Lys1196Asn)
c.2712A>C (p.Lys904Asn)
c.2061A>C (p.Lys687Asn)
c.1665A>C (p.Lys555Asn)
c.1407A>C (p.Lys469Asn)
 COSMIC
10g.75028574A>GCA470299504DUSP29,KAT6Bc.3750A>G (p.Lys1250=)
c.3201A>G (p.Lys1067=)
c.2874A>G (p.Lys958=)
c.2685A>G (p.Lys895=)
n.577-1980T>C
c.*3622-1980T>C (n.*3622-1980T>C)
c.3588A>G (p.Lys1196=)
c.2712A>G (p.Lys904=)
c.2061A>G (p.Lys687=)
c.1665A>G (p.Lys555=)
c.1407A>G (p.Lys469=)
10g.75028574A>TCA377291630DUSP29,KAT6Bc.3750A>T (p.Lys1250Asn)
c.3201A>T (p.Lys1067Asn)
c.2874A>T (p.Lys958Asn)
c.2685A>T (p.Lys895Asn)
n.577-1980T>A
c.*3622-1980T>A (n.*3622-1980T>A)
c.3588A>T (p.Lys1196Asn)
c.2712A>T (p.Lys904Asn)
c.2061A>T (p.Lys687Asn)
c.1665A>T (p.Lys555Asn)
c.1407A>T (p.Lys469Asn)
10g.75028575G>ACA5564897DUSP29,KAT6Bc.3751G>A (p.Gly1251Arg)
c.3202G>A (p.Gly1068Arg)
c.2875G>A (p.Gly959Arg)
c.2686G>A (p.Gly896Arg)
n.577-1981C>T
c.*3622-1981C>T (n.*3622-1981C>T)
c.3589G>A (p.Gly1197Arg)
c.2713G>A (p.Gly905Arg)
c.2062G>A (p.Gly688Arg)
c.1666G>A (p.Gly556Arg)
c.1408G>A (p.Gly470Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.75028575G>CCA377291633DUSP29,KAT6Bc.3751G>C (p.Gly1251Arg)
c.3202G>C (p.Gly1068Arg)
c.2875G>C (p.Gly959Arg)
c.2686G>C (p.Gly896Arg)
n.577-1981C>G
c.*3622-1981C>G (n.*3622-1981C>G)
c.3589G>C (p.Gly1197Arg)
c.2713G>C (p.Gly905Arg)
c.2062G>C (p.Gly688Arg)
c.1666G>C (p.Gly556Arg)
c.1408G>C (p.Gly470Arg)
10g.75028575G=CA1920306385DUSP29,KAT6Bc.3751G= (p.Gly1251=)
c.3202G= (p.Gly1068=)
c.2875G= (p.Gly959=)
c.2686G= (p.Gly896=)
n.577-1981C=
c.*3622-1981C= (n.*3622-1981C=)
c.3589G= (p.Gly1197=)
c.2713G= (p.Gly905=)
c.2062G= (p.Gly688=)
c.1666G= (p.Gly556=)
c.1408G= (p.Gly470=)
10g.75028575G>TCA377291635DUSP29,KAT6Bc.3751G>T (p.Gly1251Ter)
c.3202G>T (p.Gly1068Ter)
c.2875G>T (p.Gly959Ter)
c.2686G>T (p.Gly896Ter)
n.577-1981C>A
c.*3622-1981C>A (n.*3622-1981C>A)
c.3589G>T (p.Gly1197Ter)
c.2713G>T (p.Gly905Ter)
c.2062G>T (p.Gly688Ter)
c.1666G>T (p.Gly556Ter)
c.1408G>T (p.Gly470Ter)
10g.75028576G>ACA377291638DUSP29,KAT6Bc.3752G>A (p.Gly1251Glu)
c.3203G>A (p.Gly1068Glu)
c.2876G>A (p.Gly959Glu)
c.2687G>A (p.Gly896Glu)
n.577-1982C>T
c.*3622-1982C>T (n.*3622-1982C>T)
c.3590G>A (p.Gly1197Glu)
c.2714G>A (p.Gly905Glu)
c.2063G>A (p.Gly688Glu)
c.1667G>A (p.Gly556Glu)
c.1409G>A (p.Gly470Glu)
 COSMIC
10g.75028576G>CCA377291641DUSP29,KAT6Bc.3752G>C (p.Gly1251Ala)
c.3203G>C (p.Gly1068Ala)
c.2876G>C (p.Gly959Ala)
c.2687G>C (p.Gly896Ala)
n.577-1982C>G
c.*3622-1982C>G (n.*3622-1982C>G)
c.3590G>C (p.Gly1197Ala)
c.2714G>C (p.Gly905Ala)
c.2063G>C (p.Gly688Ala)
c.1667G>C (p.Gly556Ala)
c.1409G>C (p.Gly470Ala)
 dbSNP gnomAD v4
10g.75028576G=CA1920306386DUSP29,KAT6Bc.3752G= (p.Gly1251=)
c.3203G= (p.Gly1068=)
c.2876G= (p.Gly959=)
c.2687G= (p.Gly896=)
n.577-1982C=
c.*3622-1982C= (n.*3622-1982C=)
c.3590G= (p.Gly1197=)
c.2714G= (p.Gly905=)
c.2063G= (p.Gly688=)
c.1667G= (p.Gly556=)
c.1409G= (p.Gly470=)
10g.75028576G>TCA377291640DUSP29,KAT6Bc.3752G>T (p.Gly1251Val)
c.3203G>T (p.Gly1068Val)
c.2876G>T (p.Gly959Val)
c.2687G>T (p.Gly896Val)
n.577-1982C>A
c.*3622-1982C>A (n.*3622-1982C>A)
c.3590G>T (p.Gly1197Val)
c.2714G>T (p.Gly905Val)
c.2063G>T (p.Gly688Val)
c.1667G>T (p.Gly556Val)
c.1409G>T (p.Gly470Val)
10g.75028577A>CCA470299505DUSP29,KAT6Bc.3753A>C (p.Gly1251=)
c.3204A>C (p.Gly1068=)
c.2877A>C (p.Gly959=)
c.2688A>C (p.Gly896=)
n.577-1983T>G
c.*3622-1983T>G (n.*3622-1983T>G)
c.3591A>C (p.Gly1197=)
c.2715A>C (p.Gly905=)
c.2064A>C (p.Gly688=)
c.1668A>C (p.Gly556=)
c.1410A>C (p.Gly470=)
10g.75028577A>GCA470299506DUSP29,KAT6Bc.3753A>G (p.Gly1251=)
c.3204A>G (p.Gly1068=)
c.2877A>G (p.Gly959=)
c.2688A>G (p.Gly896=)
n.577-1983T>C
c.*3622-1983T>C (n.*3622-1983T>C)
c.3591A>G (p.Gly1197=)
c.2715A>G (p.Gly905=)
c.2064A>G (p.Gly688=)
c.1668A>G (p.Gly556=)
c.1410A>G (p.Gly470=)
10g.75028577A>TCA470299507DUSP29,KAT6Bc.3753A>T (p.Gly1251=)
c.3204A>T (p.Gly1068=)
c.2877A>T (p.Gly959=)
c.2688A>T (p.Gly896=)
n.577-1983T>A
c.*3622-1983T>A (n.*3622-1983T>A)
c.3591A>T (p.Gly1197=)
c.2715A>T (p.Gly905=)
c.2064A>T (p.Gly688=)
c.1668A>T (p.Gly556=)
c.1410A>T (p.Gly470=)
10g.75028578A>CCA377291643DUSP29,KAT6Bc.3754A>C (p.Thr1252Pro)
c.3205A>C (p.Thr1069Pro)
c.2878A>C (p.Thr960Pro)
c.2689A>C (p.Thr897Pro)
n.577-1984T>G
c.*3622-1984T>G (n.*3622-1984T>G)
c.3592A>C (p.Thr1198Pro)
c.2716A>C (p.Thr906Pro)
c.2065A>C (p.Thr689Pro)
c.1669A>C (p.Thr557Pro)
c.1411A>C (p.Thr471Pro)
10g.75028578A>GCA377291645DUSP29,KAT6Bc.3754A>G (p.Thr1252Ala)
c.3205A>G (p.Thr1069Ala)
c.2878A>G (p.Thr960Ala)
c.2689A>G (p.Thr897Ala)
n.577-1984T>C
c.*3622-1984T>C (n.*3622-1984T>C)
c.3592A>G (p.Thr1198Ala)
c.2716A>G (p.Thr906Ala)
c.2065A>G (p.Thr689Ala)
c.1669A>G (p.Thr557Ala)
c.1411A>G (p.Thr471Ala)
10g.75028578A>TCA377291647DUSP29,KAT6Bc.3754A>T (p.Thr1252Ser)
c.3205A>T (p.Thr1069Ser)
c.2878A>T (p.Thr960Ser)
c.2689A>T (p.Thr897Ser)
n.577-1984T>A
c.*3622-1984T>A (n.*3622-1984T>A)
c.3592A>T (p.Thr1198Ser)
c.2716A>T (p.Thr906Ser)
c.2065A>T (p.Thr689Ser)
c.1669A>T (p.Thr557Ser)
c.1411A>T (p.Thr471Ser)
10g.75028579C>ACA377291649DUSP29,KAT6Bc.3755C>A (p.Thr1252Lys)
c.3206C>A (p.Thr1069Lys)
c.2879C>A (p.Thr960Lys)
c.2690C>A (p.Thr897Lys)
n.577-1985G>T
c.*3622-1985G>T (n.*3622-1985G>T)
c.3593C>A (p.Thr1198Lys)
c.2717C>A (p.Thr906Lys)
c.2066C>A (p.Thr689Lys)
c.1670C>A (p.Thr557Lys)
c.1412C>A (p.Thr471Lys)
10g.75028579C=CA1920306387DUSP29,KAT6Bc.3755C= (p.Thr1252=)
c.3206C= (p.Thr1069=)
c.2879C= (p.Thr960=)
c.2690C= (p.Thr897=)
n.577-1985G=
c.*3622-1985G= (n.*3622-1985G=)
c.3593C= (p.Thr1198=)
c.2717C= (p.Thr906=)
c.2066C= (p.Thr689=)
c.1670C= (p.Thr557=)
c.1412C= (p.Thr471=)
10g.75028579C>GCA377291650DUSP29,KAT6Bc.3755C>G (p.Thr1252Arg)
c.3206C>G (p.Thr1069Arg)
c.2879C>G (p.Thr960Arg)
c.2690C>G (p.Thr897Arg)
n.577-1985G>C
c.*3622-1985G>C (n.*3622-1985G>C)
c.3593C>G (p.Thr1198Arg)
c.2717C>G (p.Thr906Arg)
c.2066C>G (p.Thr689Arg)
c.1670C>G (p.Thr557Arg)
c.1412C>G (p.Thr471Arg)
10g.75028579C>TCA377291652DUSP29,KAT6Bc.3755C>T (p.Thr1252Ile)
c.3206C>T (p.Thr1069Ile)
c.2879C>T (p.Thr960Ile)
c.2690C>T (p.Thr897Ile)
n.577-1985G>A
c.*3622-1985G>A (n.*3622-1985G>A)
c.3593C>T (p.Thr1198Ile)
c.2717C>T (p.Thr906Ile)
c.2066C>T (p.Thr689Ile)
c.1670C>T (p.Thr557Ile)
c.1412C>T (p.Thr471Ile)
 dbSNP gnomAD v2 gnomAD v4
10g.75028580A>CCA470299508DUSP29,KAT6Bc.3756A>C (p.Thr1252=)
c.3207A>C (p.Thr1069=)
c.2880A>C (p.Thr960=)
c.2691A>C (p.Thr897=)
n.577-1986T>G
c.*3622-1986T>G (n.*3622-1986T>G)
c.3594A>C (p.Thr1198=)
c.2718A>C (p.Thr906=)
c.2067A>C (p.Thr689=)
c.1671A>C (p.Thr557=)
c.1413A>C (p.Thr471=)
10g.75028580A>GCA470299509DUSP29,KAT6Bc.3756A>G (p.Thr1252=)
c.3207A>G (p.Thr1069=)
c.2880A>G (p.Thr960=)
c.2691A>G (p.Thr897=)
n.577-1986T>C
c.*3622-1986T>C (n.*3622-1986T>C)
c.3594A>G (p.Thr1198=)
c.2718A>G (p.Thr906=)
c.2067A>G (p.Thr689=)
c.1671A>G (p.Thr557=)
c.1413A>G (p.Thr471=)
10g.75028580A>TCA470299510DUSP29,KAT6Bc.3756A>T (p.Thr1252=)
c.3207A>T (p.Thr1069=)
c.2880A>T (p.Thr960=)
c.2691A>T (p.Thr897=)
n.577-1986T>A
c.*3622-1986T>A (n.*3622-1986T>A)
c.3594A>T (p.Thr1198=)
c.2718A>T (p.Thr906=)
c.2067A>T (p.Thr689=)
c.1671A>T (p.Thr557=)
c.1413A>T (p.Thr471=)
10g.75028581A>CCA377291654DUSP29,KAT6Bc.3757A>C (p.Lys1253Gln)
c.3208A>C (p.Lys1070Gln)
c.2881A>C (p.Lys961Gln)
c.2692A>C (p.Lys898Gln)
n.577-1987T>G
c.*3622-1987T>G (n.*3622-1987T>G)
c.3595A>C (p.Lys1199Gln)
c.2719A>C (p.Lys907Gln)
c.2068A>C (p.Lys690Gln)
c.1672A>C (p.Lys558Gln)
c.1414A>C (p.Lys472Gln)
10g.75028581A>GCA377291656DUSP29,KAT6Bc.3757A>G (p.Lys1253Glu)
c.3208A>G (p.Lys1070Glu)
c.2881A>G (p.Lys961Glu)
c.2692A>G (p.Lys898Glu)
n.577-1987T>C
c.*3622-1987T>C (n.*3622-1987T>C)
c.3595A>G (p.Lys1199Glu)
c.2719A>G (p.Lys907Glu)
c.2068A>G (p.Lys690Glu)
c.1672A>G (p.Lys558Glu)
c.1414A>G (p.Lys472Glu)
10g.75028581A>TCA377291658DUSP29,KAT6Bc.3757A>T (p.Lys1253Ter)
c.3208A>T (p.Lys1070Ter)
c.2881A>T (p.Lys961Ter)
c.2692A>T (p.Lys898Ter)
n.577-1987T>A
c.*3622-1987T>A (n.*3622-1987T>A)
c.3595A>T (p.Lys1199Ter)
c.2719A>T (p.Lys907Ter)
c.2068A>T (p.Lys690Ter)
c.1672A>T (p.Lys558Ter)
c.1414A>T (p.Lys472Ter)
10g.75028582A>CCA377291661DUSP29,KAT6Bc.3758A>C (p.Lys1253Thr)
c.3209A>C (p.Lys1070Thr)
c.2882A>C (p.Lys961Thr)
c.2693A>C (p.Lys898Thr)
n.577-1988T>G
c.*3622-1988T>G (n.*3622-1988T>G)
c.3596A>C (p.Lys1199Thr)
c.2720A>C (p.Lys907Thr)
c.2069A>C (p.Lys690Thr)
c.1673A>C (p.Lys558Thr)
c.1415A>C (p.Lys472Thr)
10g.75028582A>GCA377291663DUSP29,KAT6Bc.3758A>G (p.Lys1253Arg)
c.3209A>G (p.Lys1070Arg)
c.2882A>G (p.Lys961Arg)
c.2693A>G (p.Lys898Arg)
n.577-1988T>C
c.*3622-1988T>C (n.*3622-1988T>C)
c.3596A>G (p.Lys1199Arg)
c.2720A>G (p.Lys907Arg)
c.2069A>G (p.Lys690Arg)
c.1673A>G (p.Lys558Arg)
c.1415A>G (p.Lys472Arg)
10g.75028582A>TCA377291664DUSP29,KAT6Bc.3758A>T (p.Lys1253Met)
c.3209A>T (p.Lys1070Met)
c.2882A>T (p.Lys961Met)
c.2693A>T (p.Lys898Met)
n.577-1988T>A
c.*3622-1988T>A (n.*3622-1988T>A)
c.3596A>T (p.Lys1199Met)
c.2720A>T (p.Lys907Met)
c.2069A>T (p.Lys690Met)
c.1673A>T (p.Lys558Met)
c.1415A>T (p.Lys472Met)
10g.75028583G>ACA209709023DUSP29,KAT6Bc.3759G>A (p.Lys1253=)
c.3210G>A (p.Lys1070=)
c.2883G>A (p.Lys961=)
c.2694G>A (p.Lys898=)
n.577-1989C>T
c.*3622-1989C>T (n.*3622-1989C>T)
c.3597G>A (p.Lys1199=)
c.2721G>A (p.Lys907=)
c.2070G>A (p.Lys690=)
c.1674G>A (p.Lys558=)
c.1416G>A (p.Lys472=)
 dbSNP gnomAD v2 gnomAD v4
10g.75028583G>CCA377291668DUSP29,KAT6Bc.3759G>C (p.Lys1253Asn)
c.3210G>C (p.Lys1070Asn)
c.2883G>C (p.Lys961Asn)
c.2694G>C (p.Lys898Asn)
n.577-1989C>G
c.*3622-1989C>G (n.*3622-1989C>G)
c.3597G>C (p.Lys1199Asn)
c.2721G>C (p.Lys907Asn)
c.2070G>C (p.Lys690Asn)
c.1674G>C (p.Lys558Asn)
c.1416G>C (p.Lys472Asn)
10g.75028583G=CA1920306388DUSP29,KAT6Bc.3759G= (p.Lys1253=)
c.3210G= (p.Lys1070=)
c.2883G= (p.Lys961=)
c.2694G= (p.Lys898=)
n.577-1989C=
c.*3622-1989C= (n.*3622-1989C=)
c.3597G= (p.Lys1199=)
c.2721G= (p.Lys907=)
c.2070G= (p.Lys690=)
c.1674G= (p.Lys558=)
c.1416G= (p.Lys472=)
10g.75028583G>TCA377291666DUSP29,KAT6Bc.3759G>T (p.Lys1253Asn)
c.3210G>T (p.Lys1070Asn)
c.2883G>T (p.Lys961Asn)
c.2694G>T (p.Lys898Asn)
n.577-1989C>A
c.*3622-1989C>A (n.*3622-1989C>A)
c.3597G>T (p.Lys1199Asn)
c.2721G>T (p.Lys907Asn)
c.2070G>T (p.Lys690Asn)
c.1674G>T (p.Lys558Asn)
c.1416G>T (p.Lys472Asn)
 dbSNP gnomAD v3 gnomAD v4
10g.75028584C>ACA377291670DUSP29,KAT6Bc.3760C>A (p.Arg1254Ser)
c.3211C>A (p.Arg1071Ser)
c.2884C>A (p.Arg962Ser)
c.2695C>A (p.Arg899Ser)
n.577-1990G>T
c.*3622-1990G>T (n.*3622-1990G>T)
c.3598C>A (p.Arg1200Ser)
c.2722C>A (p.Arg908Ser)
c.2071C>A (p.Arg691Ser)
c.1675C>A (p.Arg559Ser)
c.1417C>A (p.Arg473Ser)
10g.75028584C=CA1920306389DUSP29,KAT6Bc.3760C= (p.Arg1254=)
c.3211C= (p.Arg1071=)
c.2884C= (p.Arg962=)
c.2695C= (p.Arg899=)
n.577-1990G=
c.*3622-1990G= (n.*3622-1990G=)
c.3598C= (p.Arg1200=)
c.2722C= (p.Arg908=)
c.2071C= (p.Arg691=)
c.1675C= (p.Arg559=)
c.1417C= (p.Arg473=)
10g.75028584C>GCA377291674DUSP29,KAT6Bc.3760C>G (p.Arg1254Gly)
c.3211C>G (p.Arg1071Gly)
c.2884C>G (p.Arg962Gly)
c.2695C>G (p.Arg899Gly)
n.577-1990G>C
c.*3622-1990G>C (n.*3622-1990G>C)
c.3598C>G (p.Arg1200Gly)
c.2722C>G (p.Arg908Gly)
c.2071C>G (p.Arg691Gly)
c.1675C>G (p.Arg559Gly)
c.1417C>G (p.Arg473Gly)
 gnomAD v4
10g.75028584C>TCA377291672DUSP29,KAT6Bc.3760C>T (p.Arg1254Cys)
c.3211C>T (p.Arg1071Cys)
c.2884C>T (p.Arg962Cys)
c.2695C>T (p.Arg899Cys)
n.577-1990G>A
c.*3622-1990G>A (n.*3622-1990G>A)
c.3598C>T (p.Arg1200Cys)
c.2722C>T (p.Arg908Cys)
c.2071C>T (p.Arg691Cys)
c.1675C>T (p.Arg559Cys)
c.1417C>T (p.Arg473Cys)
 dbSNP gnomAD v3 gnomAD v4 COSMIC
10g.75028585G>ACA5564898DUSP29,KAT6Bc.3761G>A (p.Arg1254His)
c.3212G>A (p.Arg1071His)
c.2885G>A (p.Arg962His)
c.2696G>A (p.Arg899His)
n.577-1991C>T
c.*3622-1991C>T (n.*3622-1991C>T)
c.3599G>A (p.Arg1200His)
c.2723G>A (p.Arg908His)
c.2072G>A (p.Arg691His)
c.1676G>A (p.Arg559His)
c.1418G>A (p.Arg473His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
10g.75028585G>CCA377291677DUSP29,KAT6Bc.3761G>C (p.Arg1254Pro)
c.3212G>C (p.Arg1071Pro)
c.2885G>C (p.Arg962Pro)
c.2696G>C (p.Arg899Pro)
n.577-1991C>G
c.*3622-1991C>G (n.*3622-1991C>G)
c.3599G>C (p.Arg1200Pro)
c.2723G>C (p.Arg908Pro)
c.2072G>C (p.Arg691Pro)
c.1676G>C (p.Arg559Pro)
c.1418G>C (p.Arg473Pro)
10g.75028585G=CA1920306390DUSP29,KAT6Bc.3761G= (p.Arg1254=)
c.3212G= (p.Arg1071=)
c.2885G= (p.Arg962=)
c.2696G= (p.Arg899=)
n.577-1991C=
c.*3622-1991C= (n.*3622-1991C=)
c.3599G= (p.Arg1200=)
c.2723G= (p.Arg908=)
c.2072G= (p.Arg691=)
c.1676G= (p.Arg559=)
c.1418G= (p.Arg473=)
10g.75028585G>TCA377291679DUSP29,KAT6Bc.3761G>T (p.Arg1254Leu)
c.3212G>T (p.Arg1071Leu)
c.2885G>T (p.Arg962Leu)
c.2696G>T (p.Arg899Leu)
n.577-1991C>A
c.*3622-1991C>A (n.*3622-1991C>A)
c.3599G>T (p.Arg1200Leu)
c.2723G>T (p.Arg908Leu)
c.2072G>T (p.Arg691Leu)
c.1676G>T (p.Arg559Leu)
c.1418G>T (p.Arg473Leu)
10g.75028586C>ACA470299511DUSP29,KAT6Bc.3762C>A (p.Arg1254=)
c.3213C>A (p.Arg1071=)
c.2886C>A (p.Arg962=)
c.2697C>A (p.Arg899=)
n.577-1992G>T
c.*3622-1992G>T (n.*3622-1992G>T)
c.3600C>A (p.Arg1200=)
c.2724C>A (p.Arg908=)
c.2073C>A (p.Arg691=)
c.1677C>A (p.Arg559=)
c.1419C>A (p.Arg473=)
10g.75028586C=CA1920306391DUSP29,KAT6Bc.3762C= (p.Arg1254=)
c.3213C= (p.Arg1071=)
c.2886C= (p.Arg962=)
c.2697C= (p.Arg899=)
n.577-1992G=
c.*3622-1992G= (n.*3622-1992G=)
c.3600C= (p.Arg1200=)
c.2724C= (p.Arg908=)
c.2073C= (p.Arg691=)
c.1677C= (p.Arg559=)
c.1419C= (p.Arg473=)
10g.75028586C>GCA10636426DUSP29,KAT6Bc.3762C>G (p.Arg1254=)
c.3213C>G (p.Arg1071=)
c.2886C>G (p.Arg962=)
c.2697C>G (p.Arg899=)
n.577-1992G>C
c.*3622-1992G>C (n.*3622-1992G>C)
c.3600C>G (p.Arg1200=)
c.2724C>G (p.Arg908=)
c.2073C>G (p.Arg691=)
c.1677C>G (p.Arg559=)
c.1419C>G (p.Arg473=)
 dbSNP gnomAD v4
10g.75028586C>TCA5564899DUSP29,KAT6Bc.3762C>T (p.Arg1254=)
c.3213C>T (p.Arg1071=)
c.2886C>T (p.Arg962=)
c.2697C>T (p.Arg899=)
n.577-1992G>A
c.*3622-1992G>A (n.*3622-1992G>A)
c.3600C>T (p.Arg1200=)
c.2724C>T (p.Arg908=)
c.2073C>T (p.Arg691=)
c.1677C>T (p.Arg559=)
c.1419C>T (p.Arg473=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.75028587G>ACA5564900DUSP29,KAT6Bc.3763G>A (p.Gly1255Ser)
c.3214G>A (p.Gly1072Ser)
c.2887G>A (p.Gly963Ser)
c.2698G>A (p.Gly900Ser)
n.577-1993C>T
c.*3622-1993C>T (n.*3622-1993C>T)
c.3601G>A (p.Gly1201Ser)
c.2725G>A (p.Gly909Ser)
c.2074G>A (p.Gly692Ser)
c.1678G>A (p.Gly560Ser)
c.1420G>A (p.Gly474Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
10g.75028587G>CCA5564901DUSP29,KAT6Bc.3763G>C (p.Gly1255Arg)
c.3214G>C (p.Gly1072Arg)
c.2887G>C (p.Gly963Arg)
c.2698G>C (p.Gly900Arg)
n.577-1993C>G
c.*3622-1993C>G (n.*3622-1993C>G)
c.3601G>C (p.Gly1201Arg)
c.2725G>C (p.Gly909Arg)
c.2074G>C (p.Gly692Arg)
c.1678G>C (p.Gly560Arg)
c.1420G>C (p.Gly474Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.75028587G=CA1920306392DUSP29,KAT6Bc.3763G= (p.Gly1255=)
c.3214G= (p.Gly1072=)
c.2887G= (p.Gly963=)
c.2698G= (p.Gly900=)
n.577-1993C=
c.*3622-1993C= (n.*3622-1993C=)
c.3601G= (p.Gly1201=)
c.2725G= (p.Gly909=)
c.2074G= (p.Gly692=)
c.1678G= (p.Gly560=)
c.1420G= (p.Gly474=)
10g.75028587G>TCA377291683DUSP29,KAT6Bc.3763G>T (p.Gly1255Cys)
c.3214G>T (p.Gly1072Cys)
c.2887G>T (p.Gly963Cys)
c.2698G>T (p.Gly900Cys)
n.577-1993C>A
c.*3622-1993C>A (n.*3622-1993C>A)
c.3601G>T (p.Gly1201Cys)
c.2725G>T (p.Gly909Cys)
c.2074G>T (p.Gly692Cys)
c.1678G>T (p.Gly560Cys)
c.1420G>T (p.Gly474Cys)
10g.75028588G>ACA377291686DUSP29,KAT6Bc.3764G>A (p.Gly1255Asp)
c.3215G>A (p.Gly1072Asp)
c.2888G>A (p.Gly963Asp)
c.2699G>A (p.Gly900Asp)
n.577-1994C>T
c.*3622-1994C>T (n.*3622-1994C>T)
c.3602G>A (p.Gly1201Asp)
c.2726G>A (p.Gly909Asp)
c.2075G>A (p.Gly692Asp)
c.1679G>A (p.Gly560Asp)
c.1421G>A (p.Gly474Asp)
10g.75028588G>CCA377291688DUSP29,KAT6Bc.3764G>C (p.Gly1255Ala)
c.3215G>C (p.Gly1072Ala)
c.2888G>C (p.Gly963Ala)
c.2699G>C (p.Gly900Ala)
n.577-1994C>G
c.*3622-1994C>G (n.*3622-1994C>G)
c.3602G>C (p.Gly1201Ala)
c.2726G>C (p.Gly909Ala)
c.2075G>C (p.Gly692Ala)
c.1679G>C (p.Gly560Ala)
c.1421G>C (p.Gly474Ala)
10g.75028588G>TCA377291689DUSP29,KAT6Bc.3764G>T (p.Gly1255Val)
c.3215G>T (p.Gly1072Val)
c.2888G>T (p.Gly963Val)
c.2699G>T (p.Gly900Val)
n.577-1994C>A
c.*3622-1994C>A (n.*3622-1994C>A)
c.3602G>T (p.Gly1201Val)
c.2726G>T (p.Gly909Val)
c.2075G>T (p.Gly692Val)
c.1679G>T (p.Gly560Val)
c.1421G>T (p.Gly474Val)
10g.75028588_75028592delinsGTCTACA1920306393DUSP29,KAT6Bc.3764_3768delinsGTCTA (p.Gly1255=)
c.3215_3219delinsGTCTA (p.Gly1072=)
c.2888_2892delinsGTCTA (p.Gly963=)
c.2699_2703delinsGTCTA (p.Gly900=)
n.577-1998_577-1994delinsTAGAC
c.*3622-1998_*3622-1994delinsTAGAC (n.*3622-1998_*3622-1994delinsTAGAC)
c.3602_3606delinsGTCTA (p.Gly1201=)
c.2726_2730delinsGTCTA (p.Gly909=)
c.2075_2079delinsGTCTA (p.Gly692=)
c.1679_1683delinsGTCTA (p.Gly560=)
c.1421_1425delinsGTCTA (p.Gly474=)
10g.75028589T>ACA470299512DUSP29,KAT6Bc.3765T>A (p.Gly1255=)
c.3216T>A (p.Gly1072=)
c.2889T>A (p.Gly963=)
c.2700T>A (p.Gly900=)
n.577-1995A>T
c.*3622-1995A>T (n.*3622-1995A>T)
c.3603T>A (p.Gly1201=)
c.2727T>A (p.Gly909=)
c.2076T>A (p.Gly692=)
c.1680T>A (p.Gly560=)
c.1422T>A (p.Gly474=)
10g.75028589T>CCA470299514DUSP29,KAT6Bc.3765T>C (p.Gly1255=)
c.3216T>C (p.Gly1072=)
c.2889T>C (p.Gly963=)
c.2700T>C (p.Gly900=)
n.577-1995A>G
c.*3622-1995A>G (n.*3622-1995A>G)
c.3603T>C (p.Gly1201=)
c.2727T>C (p.Gly909=)
c.2076T>C (p.Gly692=)
c.1680T>C (p.Gly560=)
c.1422T>C (p.Gly474=)
 ClinVar dbSNP gnomAD v4
10g.75028589T>GCA470299513DUSP29,KAT6Bc.3765T>G (p.Gly1255=)
c.3216T>G (p.Gly1072=)
c.2889T>G (p.Gly963=)
c.2700T>G (p.Gly900=)
n.577-1995A>C
c.*3622-1995A>C (n.*3622-1995A>C)
c.3603T>G (p.Gly1201=)
c.2727T>G (p.Gly909=)
c.2076T>G (p.Gly692=)
c.1680T>G (p.Gly560=)
c.1422T>G (p.Gly474=)
 gnomAD v4
10g.75028589T=CA1920306394DUSP29,KAT6Bc.3765T= (p.Gly1255=)
c.3216T= (p.Gly1072=)
c.2889T= (p.Gly963=)
c.2700T= (p.Gly900=)
n.577-1995A=
c.*3622-1995A= (n.*3622-1995A=)
c.3603T= (p.Gly1201=)
c.2727T= (p.Gly909=)
c.2076T= (p.Gly692=)
c.1680T= (p.Gly560=)
c.1422T= (p.Gly474=)
10g.75028593_75028596delCA232607DUSP29,KAT6Bc.3769_3772del (p.Lys1258GlyfsTer13)
c.3220_3223del (p.Lys1075GlyfsTer13)
c.2893_2896del (p.Lys966GlyfsTer13)
c.2704_2707del (p.Lys903GlyfsTer13)
n.577-1998_577-1995del
c.*3622-1998_*3622-1995del (n.*3622-1998_*3622-1995del)
c.3607_3610del (p.Lys1204GlyfsTer13)
c.2731_2734del (p.Lys912GlyfsTer13)
c.2080_2083del (p.Lys695GlyfsTer13)
c.1684_1687del (p.Lys563GlyfsTer13)
c.1426_1429del (p.Lys477GlyfsTer13)
 ClinVar dbSNP
10g.75028590C>ACA377291691DUSP29,KAT6Bc.3766C>A (p.Leu1256Ile)
c.3217C>A (p.Leu1073Ile)
c.2890C>A (p.Leu964Ile)
c.2701C>A (p.Leu901Ile)
n.577-1996G>T
c.*3622-1996G>T (n.*3622-1996G>T)
c.3604C>A (p.Leu1202Ile)
c.2728C>A (p.Leu910Ile)
c.2077C>A (p.Leu693Ile)
c.1681C>A (p.Leu561Ile)
c.1423C>A (p.Leu475Ile)
10g.75028590C>GCA377291693DUSP29,KAT6Bc.3766C>G (p.Leu1256Val)
c.3217C>G (p.Leu1073Val)
c.2890C>G (p.Leu964Val)
c.2701C>G (p.Leu901Val)
n.577-1996G>C
c.*3622-1996G>C (n.*3622-1996G>C)
c.3604C>G (p.Leu1202Val)
c.2728C>G (p.Leu910Val)
c.2077C>G (p.Leu693Val)
c.1681C>G (p.Leu561Val)
c.1423C>G (p.Leu475Val)
10g.75028590C>TCA470299515DUSP29,KAT6Bc.3766C>T (p.Leu1256=)
c.3217C>T (p.Leu1073=)
c.2890C>T (p.Leu964=)
c.2701C>T (p.Leu901=)
n.577-1996G>A
c.*3622-1996G>A (n.*3622-1996G>A)
c.3604C>T (p.Leu1202=)
c.2728C>T (p.Leu910=)
c.2077C>T (p.Leu693=)
c.1681C>T (p.Leu561=)
c.1423C>T (p.Leu475=)
10g.75028591T>ACA377291698DUSP29,KAT6Bc.3767T>A (p.Leu1256Gln)
c.3218T>A (p.Leu1073Gln)
c.2891T>A (p.Leu964Gln)
c.2702T>A (p.Leu901Gln)
n.577-1997A>T
c.*3622-1997A>T (n.*3622-1997A>T)
c.3605T>A (p.Leu1202Gln)
c.2729T>A (p.Leu910Gln)
c.2078T>A (p.Leu693Gln)
c.1682T>A (p.Leu561Gln)
c.1424T>A (p.Leu475Gln)
10g.75028591T>CCA377291696DUSP29,KAT6Bc.3767T>C (p.Leu1256Pro)
c.3218T>C (p.Leu1073Pro)
c.2891T>C (p.Leu964Pro)
c.2702T>C (p.Leu901Pro)
n.577-1997A>G
c.*3622-1997A>G (n.*3622-1997A>G)
c.3605T>C (p.Leu1202Pro)
c.2729T>C (p.Leu910Pro)
c.2078T>C (p.Leu693Pro)
c.1682T>C (p.Leu561Pro)
c.1424T>C (p.Leu475Pro)
10g.75028591T>GCA377291694DUSP29,KAT6Bc.3767T>G (p.Leu1256Arg)
c.3218T>G (p.Leu1073Arg)
c.2891T>G (p.Leu964Arg)
c.2702T>G (p.Leu901Arg)
n.577-1997A>C
c.*3622-1997A>C (n.*3622-1997A>C)
c.3605T>G (p.Leu1202Arg)
c.2729T>G (p.Leu910Arg)
c.2078T>G (p.Leu693Arg)
c.1682T>G (p.Leu561Arg)
c.1424T>G (p.Leu475Arg)
10g.75028592A=CA1920306395DUSP29,KAT6Bc.3768A= (p.Leu1256=)
c.3219A= (p.Leu1073=)
c.2892A= (p.Leu964=)
c.2703A= (p.Leu901=)
n.577-1998T=
c.*3622-1998T= (n.*3622-1998T=)
c.3606A= (p.Leu1202=)
c.2730A= (p.Leu910=)
c.2079A= (p.Leu693=)
c.1683A= (p.Leu561=)
c.1425A= (p.Leu475=)
10g.75028592A>CCA470299516DUSP29,KAT6Bc.3768A>C (p.Leu1256=)
c.3219A>C (p.Leu1073=)
c.2892A>C (p.Leu964=)
c.2703A>C (p.Leu901=)
n.577-1998T>G
c.*3622-1998T>G (n.*3622-1998T>G)
c.3606A>C (p.Leu1202=)
c.2730A>C (p.Leu910=)
c.2079A>C (p.Leu693=)
c.1683A>C (p.Leu561=)
c.1425A>C (p.Leu475=)
10g.75028592A>GCA5564902DUSP29,KAT6Bc.3768A>G (p.Leu1256=)
c.3219A>G (p.Leu1073=)
c.2892A>G (p.Leu964=)
c.2703A>G (p.Leu901=)
n.577-1998T>C
c.*3622-1998T>C (n.*3622-1998T>C)
c.3606A>G (p.Leu1202=)
c.2730A>G (p.Leu910=)
c.2079A>G (p.Leu693=)
c.1683A>G (p.Leu561=)
c.1425A>G (p.Leu475=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.75028592A>TCA470299517DUSP29,KAT6Bc.3768A>T (p.Leu1256=)
c.3219A>T (p.Leu1073=)
c.2892A>T (p.Leu964=)
c.2703A>T (p.Leu901=)
n.577-1998T>A
c.*3622-1998T>A (n.*3622-1998T>A)
c.3606A>T (p.Leu1202=)
c.2730A>T (p.Leu910=)
c.2079A>T (p.Leu693=)
c.1683A>T (p.Leu561=)
c.1425A>T (p.Leu475=)
10g.75028592_75028595delinsATCTCA1920306396DUSP29,KAT6Bc.3768_3771delinsATCT (p.Leu1256=)
c.3219_3222delinsATCT (p.Leu1073=)
c.2892_2895delinsATCT (p.Leu964=)
c.2703_2706delinsATCT (p.Leu901=)
n.577-2001_577-1998delinsAGAT
c.*3622-2001_*3622-1998delinsAGAT (n.*3622-2001_*3622-1998delinsAGAT)
c.3606_3609delinsATCT (p.Leu1202=)
c.2730_2733delinsATCT (p.Leu910=)
c.2079_2082delinsATCT (p.Leu693=)
c.1683_1686delinsATCT (p.Leu561=)
c.1425_1428delinsATCT (p.Leu475=)
10g.75028593T>ACA377291701DUSP29,KAT6Bc.3769T>A (p.Ser1257Thr)
c.3220T>A (p.Ser1074Thr)
c.2893T>A (p.Ser965Thr)
c.2704T>A (p.Ser902Thr)
n.577-1999A>T
c.*3622-1999A>T (n.*3622-1999A>T)
c.3607T>A (p.Ser1203Thr)
c.2731T>A (p.Ser911Thr)
c.2080T>A (p.Ser694Thr)
c.1684T>A (p.Ser562Thr)
c.1426T>A (p.Ser476Thr)
10g.75028593T>CCA377291703DUSP29,KAT6Bc.3769T>C (p.Ser1257Pro)
c.3220T>C (p.Ser1074Pro)
c.2893T>C (p.Ser965Pro)
c.2704T>C (p.Ser902Pro)
n.577-1999A>G
c.*3622-1999A>G (n.*3622-1999A>G)
c.3607T>C (p.Ser1203Pro)
c.2731T>C (p.Ser911Pro)
c.2080T>C (p.Ser694Pro)
c.1684T>C (p.Ser562Pro)
c.1426T>C (p.Ser476Pro)
10g.75028593T>GCA377291704DUSP29,KAT6Bc.3769T>G (p.Ser1257Ala)
c.3220T>G (p.Ser1074Ala)
c.2893T>G (p.Ser965Ala)
c.2704T>G (p.Ser902Ala)
n.577-1999A>C
c.*3622-1999A>C (n.*3622-1999A>C)
c.3607T>G (p.Ser1203Ala)
c.2731T>G (p.Ser911Ala)
c.2080T>G (p.Ser694Ala)
c.1684T>G (p.Ser562Ala)
c.1426T>G (p.Ser476Ala)
10g.75028593_75028595delCA5564903DUSP29,KAT6Bc.3769_3771del (p.Ser1257del)
c.3220_3222del (p.Ser1074del)
c.2893_2895del (p.Ser965del)
c.2704_2706del (p.Ser902del)
n.577-2001_577-1999del
c.*3622-2001_*3622-1999del (n.*3622-2001_*3622-1999del)
c.3607_3609del (p.Ser1203del)
c.2731_2733del (p.Ser911del)
c.2080_2082del (p.Ser694del)
c.1684_1686del (p.Ser562del)
c.1426_1428del (p.Ser476del)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.75028594C>ACA377291707DUSP29,KAT6Bc.3770C>A (p.Ser1257Tyr)
c.3221C>A (p.Ser1074Tyr)
c.2894C>A (p.Ser965Tyr)
c.2705C>A (p.Ser902Tyr)
n.577-2000G>T
c.*3622-2000G>T (n.*3622-2000G>T)
c.3608C>A (p.Ser1203Tyr)
c.2732C>A (p.Ser911Tyr)
c.2081C>A (p.Ser694Tyr)
c.1685C>A (p.Ser562Tyr)
c.1427C>A (p.Ser476Tyr)
10g.75028594C=CA1920306397DUSP29,KAT6Bc.3770C= (p.Ser1257=)
c.3221C= (p.Ser1074=)
c.2894C= (p.Ser965=)
c.2705C= (p.Ser902=)
n.577-2000G=
c.*3622-2000G= (n.*3622-2000G=)
c.3608C= (p.Ser1203=)
c.2732C= (p.Ser911=)
c.2081C= (p.Ser694=)
c.1685C= (p.Ser562=)
c.1427C= (p.Ser476=)
10g.75028594C>GCA377291708DUSP29,KAT6Bc.3770C>G (p.Ser1257Cys)
c.3221C>G (p.Ser1074Cys)
c.2894C>G (p.Ser965Cys)
c.2705C>G (p.Ser902Cys)
n.577-2000G>C
c.*3622-2000G>C (n.*3622-2000G>C)
c.3608C>G (p.Ser1203Cys)
c.2732C>G (p.Ser911Cys)
c.2081C>G (p.Ser694Cys)
c.1685C>G (p.Ser562Cys)
c.1427C>G (p.Ser476Cys)
 ClinVar dbSNP gnomAD v4
10g.75028594C>TCA377291710DUSP29,KAT6Bc.3770C>T (p.Ser1257Phe)
c.3221C>T (p.Ser1074Phe)
c.2894C>T (p.Ser965Phe)
c.2705C>T (p.Ser902Phe)
n.577-2000G>A
c.*3622-2000G>A (n.*3622-2000G>A)
c.3608C>T (p.Ser1203Phe)
c.2732C>T (p.Ser911Phe)
c.2081C>T (p.Ser694Phe)
c.1685C>T (p.Ser562Phe)
c.1427C>T (p.Ser476Phe)
 dbSNP gnomAD v2 gnomAD v4
10g.75028595T>ACA470299518DUSP29,KAT6Bc.3771T>A (p.Ser1257=)
c.3222T>A (p.Ser1074=)
c.2895T>A (p.Ser965=)
c.2706T>A (p.Ser902=)
n.577-2001A>T
c.*3622-2001A>T (n.*3622-2001A>T)
c.3609T>A (p.Ser1203=)
c.2733T>A (p.Ser911=)
c.2082T>A (p.Ser694=)
c.1686T>A (p.Ser562=)
c.1428T>A (p.Ser476=)
10g.75028595T>CCA5564904DUSP29,KAT6Bc.3771T>C (p.Ser1257=)
c.3222T>C (p.Ser1074=)
c.2895T>C (p.Ser965=)
c.2706T>C (p.Ser902=)
n.577-2001A>G
c.*3622-2001A>G (n.*3622-2001A>G)
c.3609T>C (p.Ser1203=)
c.2733T>C (p.Ser911=)
c.2082T>C (p.Ser694=)
c.1686T>C (p.Ser562=)
c.1428T>C (p.Ser476=)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.75028595T>GCA470299519DUSP29,KAT6Bc.3771T>G (p.Ser1257=)
c.3222T>G (p.Ser1074=)
c.2895T>G (p.Ser965=)
c.2706T>G (p.Ser902=)
n.577-2001A>C
c.*3622-2001A>C (n.*3622-2001A>C)
c.3609T>G (p.Ser1203=)
c.2733T>G (p.Ser911=)
c.2082T>G (p.Ser694=)
c.1686T>G (p.Ser562=)
c.1428T>G (p.Ser476=)
10g.75028595T=CA1920306398DUSP29,KAT6Bc.3771T= (p.Ser1257=)
c.3222T= (p.Ser1074=)
c.2895T= (p.Ser965=)
c.2706T= (p.Ser902=)
n.577-2001A=
c.*3622-2001A= (n.*3622-2001A=)
c.3609T= (p.Ser1203=)
c.2733T= (p.Ser911=)
c.2082T= (p.Ser694=)
c.1686T= (p.Ser562=)
c.1428T= (p.Ser476=)
10g.75028596A>CCA377291713DUSP29,KAT6Bc.3772A>C (p.Lys1258Gln)
c.3223A>C (p.Lys1075Gln)
c.2896A>C (p.Lys966Gln)
c.2707A>C (p.Lys903Gln)
n.577-2002T>G
c.*3622-2002T>G (n.*3622-2002T>G)
c.3610A>C (p.Lys1204Gln)
c.2734A>C (p.Lys912Gln)
c.2083A>C (p.Lys695Gln)
c.1687A>C (p.Lys563Gln)
c.1429A>C (p.Lys477Gln)
10g.75028596A>GCA377291714DUSP29,KAT6Bc.3772A>G (p.Lys1258Glu)
c.3223A>G (p.Lys1075Glu)
c.2896A>G (p.Lys966Glu)
c.2707A>G (p.Lys903Glu)
n.577-2002T>C
c.*3622-2002T>C (n.*3622-2002T>C)
c.3610A>G (p.Lys1204Glu)
c.2734A>G (p.Lys912Glu)
c.2083A>G (p.Lys695Glu)
c.1687A>G (p.Lys563Glu)
c.1429A>G (p.Lys477Glu)
10g.75028596A>TCA377291717DUSP29,KAT6Bc.3772A>T (p.Lys1258Ter)
c.3223A>T (p.Lys1075Ter)
c.2896A>T (p.Lys966Ter)
c.2707A>T (p.Lys903Ter)
n.577-2002T>A
c.*3622-2002T>A (n.*3622-2002T>A)
c.3610A>T (p.Lys1204Ter)
c.2734A>T (p.Lys912Ter)
c.2083A>T (p.Lys695Ter)
c.1687A>T (p.Lys563Ter)
c.1429A>T (p.Lys477Ter)
10g.75028597dupCA232608DUSP29,KAT6Bc.3773dup (p.Trp1259ValfsTer12)
c.3224dup (p.Trp1076ValfsTer12)
c.2897dup (p.Trp967ValfsTer12)
c.2708dup (p.Trp904ValfsTer12)
n.577-2002dup
c.*3622-2002dup (n.*3622-2002dup)
c.3611dup (p.Trp1205ValfsTer12)
c.2735dup (p.Trp913ValfsTer12)
c.2084dup (p.Trp696ValfsTer12)
c.1688dup (p.Trp564ValfsTer12)
c.1430dup (p.Trp478ValfsTer12)
 ClinVar dbSNP
10g.75028597A>CCA377291719DUSP29,KAT6Bc.3773A>C (p.Lys1258Thr)
c.3224A>C (p.Lys1075Thr)
c.2897A>C (p.Lys966Thr)
c.2708A>C (p.Lys903Thr)
n.577-2003T>G
c.*3622-2003T>G (n.*3622-2003T>G)
c.3611A>C (p.Lys1204Thr)
c.2735A>C (p.Lys912Thr)
c.2084A>C (p.Lys695Thr)
c.1688A>C (p.Lys563Thr)
c.1430A>C (p.Lys477Thr)
10g.75028597A>GCA377291723DUSP29,KAT6Bc.3773A>G (p.Lys1258Arg)
c.3224A>G (p.Lys1075Arg)
c.2897A>G (p.Lys966Arg)
c.2708A>G (p.Lys903Arg)
n.577-2003T>C
c.*3622-2003T>C (n.*3622-2003T>C)
c.3611A>G (p.Lys1204Arg)
c.2735A>G (p.Lys912Arg)
c.2084A>G (p.Lys695Arg)
c.1688A>G (p.Lys563Arg)
c.1430A>G (p.Lys477Arg)
10g.75028597A>TCA377291721DUSP29,KAT6Bc.3773A>T (p.Lys1258Met)
c.3224A>T (p.Lys1075Met)
c.2897A>T (p.Lys966Met)
c.2708A>T (p.Lys903Met)
n.577-2003T>A
c.*3622-2003T>A (n.*3622-2003T>A)
c.3611A>T (p.Lys1204Met)
c.2735A>T (p.Lys912Met)
c.2084A>T (p.Lys695Met)
c.1688A>T (p.Lys563Met)
c.1430A>T (p.Lys477Met)
10g.75028598G>ACA470299520DUSP29,KAT6Bc.3774G>A (p.Lys1258=)
c.3225G>A (p.Lys1075=)
c.2898G>A (p.Lys966=)
c.2709G>A (p.Lys903=)
n.577-2004C>T
c.*3622-2004C>T (n.*3622-2004C>T)
c.3612G>A (p.Lys1204=)
c.2736G>A (p.Lys912=)
c.2085G>A (p.Lys695=)
c.1689G>A (p.Lys563=)
c.1431G>A (p.Lys477=)
 gnomAD v4
10g.75028598G>CCA377291725DUSP29,KAT6Bc.3774G>C (p.Lys1258Asn)
c.3225G>C (p.Lys1075Asn)
c.2898G>C (p.Lys966Asn)
c.2709G>C (p.Lys903Asn)
n.577-2004C>G
c.*3622-2004C>G (n.*3622-2004C>G)
c.3612G>C (p.Lys1204Asn)
c.2736G>C (p.Lys912Asn)
c.2085G>C (p.Lys695Asn)
c.1689G>C (p.Lys563Asn)
c.1431G>C (p.Lys477Asn)
10g.75028598G>TCA377291727DUSP29,KAT6Bc.3774G>T (p.Lys1258Asn)
c.3225G>T (p.Lys1075Asn)
c.2898G>T (p.Lys966Asn)
c.2709G>T (p.Lys903Asn)
n.577-2004C>A
c.*3622-2004C>A (n.*3622-2004C>A)
c.3612G>T (p.Lys1204Asn)
c.2736G>T (p.Lys912Asn)
c.2085G>T (p.Lys695Asn)
c.1689G>T (p.Lys563Asn)
c.1431G>T (p.Lys477Asn)
10g.75028599T>ACA377291730DUSP29,KAT6Bc.3775T>A (p.Trp1259Arg)
c.3226T>A (p.Trp1076Arg)
c.2899T>A (p.Trp967Arg)
c.2710T>A (p.Trp904Arg)
n.577-2005A>T
c.*3622-2005A>T (n.*3622-2005A>T)
c.3613T>A (p.Trp1205Arg)
c.2737T>A (p.Trp913Arg)
c.2086T>A (p.Trp696Arg)
c.1690T>A (p.Trp564Arg)
c.1432T>A (p.Trp478Arg)
10g.75028599T>CCA377291732DUSP29,KAT6Bc.3775T>C (p.Trp1259Arg)
c.3226T>C (p.Trp1076Arg)
c.2899T>C (p.Trp967Arg)
c.2710T>C (p.Trp904Arg)
n.577-2005A>G
c.*3622-2005A>G (n.*3622-2005A>G)
c.3613T>C (p.Trp1205Arg)
c.2737T>C (p.Trp913Arg)
c.2086T>C (p.Trp696Arg)
c.1690T>C (p.Trp564Arg)
c.1432T>C (p.Trp478Arg)
 ClinVar
10g.75028599T>GCA377291734DUSP29,KAT6Bc.3775T>G (p.Trp1259Gly)
c.3226T>G (p.Trp1076Gly)
c.2899T>G (p.Trp967Gly)
c.2710T>G (p.Trp904Gly)
n.577-2005A>C
c.*3622-2005A>C (n.*3622-2005A>C)
c.3613T>G (p.Trp1205Gly)
c.2737T>G (p.Trp913Gly)
c.2086T>G (p.Trp696Gly)
c.1690T>G (p.Trp564Gly)
c.1432T>G (p.Trp478Gly)
10g.75028600G>ACA377291738DUSP29,KAT6Bc.3776G>A (p.Trp1259Ter)
c.3227G>A (p.Trp1076Ter)
c.2900G>A (p.Trp967Ter)
c.2711G>A (p.Trp904Ter)
n.577-2006C>T
c.*3622-2006C>T (n.*3622-2006C>T)
c.3614G>A (p.Trp1205Ter)
c.2738G>A (p.Trp913Ter)
c.2087G>A (p.Trp696Ter)
c.1691G>A (p.Trp564Ter)
c.1433G>A (p.Trp478Ter)
10g.75028600G>CCA377291739DUSP29,KAT6Bc.3776G>C (p.Trp1259Ser)
c.3227G>C (p.Trp1076Ser)
c.2900G>C (p.Trp967Ser)
c.2711G>C (p.Trp904Ser)
n.577-2006C>G
c.*3622-2006C>G (n.*3622-2006C>G)
c.3614G>C (p.Trp1205Ser)
c.2738G>C (p.Trp913Ser)
c.2087G>C (p.Trp696Ser)
c.1691G>C (p.Trp564Ser)
c.1433G>C (p.Trp478Ser)
10g.75028600G>TCA377291741DUSP29,KAT6Bc.3776G>T (p.Trp1259Leu)
c.3227G>T (p.Trp1076Leu)
c.2900G>T (p.Trp967Leu)
c.2711G>T (p.Trp904Leu)
n.577-2006C>A
c.*3622-2006C>A (n.*3622-2006C>A)
c.3614G>T (p.Trp1205Leu)
c.2738G>T (p.Trp913Leu)
c.2087G>T (p.Trp696Leu)
c.1691G>T (p.Trp564Leu)
c.1433G>T (p.Trp478Leu)
10g.75028601G>ACA377291743DUSP29,KAT6Bc.3777G>A (p.Trp1259Ter)
c.3228G>A (p.Trp1076Ter)
c.2901G>A (p.Trp967Ter)
c.2712G>A (p.Trp904Ter)
n.577-2007C>T
c.*3622-2007C>T (n.*3622-2007C>T)
c.3615G>A (p.Trp1205Ter)
c.2739G>A (p.Trp913Ter)
c.2088G>A (p.Trp696Ter)
c.1692G>A (p.Trp564Ter)
c.1434G>A (p.Trp478Ter)
10g.75028601G>CCA377291745DUSP29,KAT6Bc.3777G>C (p.Trp1259Cys)
c.3228G>C (p.Trp1076Cys)
c.2901G>C (p.Trp967Cys)
c.2712G>C (p.Trp904Cys)
n.577-2007C>G
c.*3622-2007C>G (n.*3622-2007C>G)
c.3615G>C (p.Trp1205Cys)
c.2739G>C (p.Trp913Cys)
c.2088G>C (p.Trp696Cys)
c.1692G>C (p.Trp564Cys)
c.1434G>C (p.Trp478Cys)
10g.75028601G>TCA377291747DUSP29,KAT6Bc.3777G>T (p.Trp1259Cys)
c.3228G>T (p.Trp1076Cys)
c.2901G>T (p.Trp967Cys)
c.2712G>T (p.Trp904Cys)
n.577-2007C>A
c.*3622-2007C>A (n.*3622-2007C>A)
c.3615G>T (p.Trp1205Cys)
c.2739G>T (p.Trp913Cys)
c.2088G>T (p.Trp696Cys)
c.1692G>T (p.Trp564Cys)
c.1434G>T (p.Trp478Cys)
 gnomAD v4
10g.75028602A>CCA470299521DUSP29,KAT6Bc.3778A>C (p.Arg1260=)
c.3229A>C (p.Arg1077=)
c.2902A>C (p.Arg968=)
c.2713A>C (p.Arg905=)
n.577-2008T>G
c.*3622-2008T>G (n.*3622-2008T>G)
c.3616A>C (p.Arg1206=)
c.2740A>C (p.Arg914=)
c.2089A>C (p.Arg697=)
c.1693A>C (p.Arg565=)
c.1435A>C (p.Arg479=)
10g.75028602A>GCA377291749DUSP29,KAT6Bc.3778A>G (p.Arg1260Gly)
c.3229A>G (p.Arg1077Gly)
c.2902A>G (p.Arg968Gly)
c.2713A>G (p.Arg905Gly)
n.577-2008T>C
c.*3622-2008T>C (n.*3622-2008T>C)
c.3616A>G (p.Arg1206Gly)
c.2740A>G (p.Arg914Gly)
c.2089A>G (p.Arg697Gly)
c.1693A>G (p.Arg565Gly)
c.1435A>G (p.Arg479Gly)
10g.75028602A>TCA377291751DUSP29,KAT6Bc.3778A>T (p.Arg1260Trp)
c.3229A>T (p.Arg1077Trp)
c.2902A>T (p.Arg968Trp)
c.2713A>T (p.Arg905Trp)
n.577-2008T>A
c.*3622-2008T>A (n.*3622-2008T>A)
c.3616A>T (p.Arg1206Trp)
c.2740A>T (p.Arg914Trp)
c.2089A>T (p.Arg697Trp)
c.1693A>T (p.Arg565Trp)
c.1435A>T (p.Arg479Trp)
10g.75028603G>ACA377291753DUSP29,KAT6Bc.3779G>A (p.Arg1260Lys)
c.3230G>A (p.Arg1077Lys)
c.2903G>A (p.Arg968Lys)
c.2714G>A (p.Arg905Lys)
n.577-2009C>T
c.*3622-2009C>T (n.*3622-2009C>T)
c.3617G>A (p.Arg1206Lys)
c.2741G>A (p.Arg914Lys)
c.2090G>A (p.Arg697Lys)
c.1694G>A (p.Arg565Lys)
c.1436G>A (p.Arg479Lys)
 gnomAD v4
10g.75028603G>CCA377291757DUSP29,KAT6Bc.3779G>C (p.Arg1260Thr)
c.3230G>C (p.Arg1077Thr)
c.2903G>C (p.Arg968Thr)
c.2714G>C (p.Arg905Thr)
n.577-2009C>G
c.*3622-2009C>G (n.*3622-2009C>G)
c.3617G>C (p.Arg1206Thr)
c.2741G>C (p.Arg914Thr)
c.2090G>C (p.Arg697Thr)
c.1694G>C (p.Arg565Thr)
c.1436G>C (p.Arg479Thr)
10g.75028603G>TCA377291755DUSP29,KAT6Bc.3779G>T (p.Arg1260Met)
c.3230G>T (p.Arg1077Met)
c.2903G>T (p.Arg968Met)
c.2714G>T (p.Arg905Met)
n.577-2009C>A
c.*3622-2009C>A (n.*3622-2009C>A)
c.3617G>T (p.Arg1206Met)
c.2741G>T (p.Arg914Met)
c.2090G>T (p.Arg697Met)
c.1694G>T (p.Arg565Met)
c.1436G>T (p.Arg479Met)
 gnomAD v4
10g.75028604G>ACA5564905DUSP29,KAT6Bc.3780G>A (p.Arg1260=)
c.3231G>A (p.Arg1077=)
c.2904G>A (p.Arg968=)
c.2715G>A (p.Arg905=)
n.577-2010C>T
c.*3622-2010C>T (n.*3622-2010C>T)
c.3618G>A (p.Arg1206=)
c.2742G>A (p.Arg914=)
c.2091G>A (p.Arg697=)
c.1695G>A (p.Arg565=)
c.1437G>A (p.Arg479=)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.75028604G>CCA377291760DUSP29,KAT6Bc.3780G>C (p.Arg1260Ser)
c.3231G>C (p.Arg1077Ser)
c.2904G>C (p.Arg968Ser)
c.2715G>C (p.Arg905Ser)
n.577-2010C>G
c.*3622-2010C>G (n.*3622-2010C>G)
c.3618G>C (p.Arg1206Ser)
c.2742G>C (p.Arg914Ser)
c.2091G>C (p.Arg697Ser)
c.1695G>C (p.Arg565Ser)
c.1437G>C (p.Arg479Ser)
10g.75028604G=CA1920306399DUSP29,KAT6Bc.3780G= (p.Arg1260=)
c.3231G= (p.Arg1077=)
c.2904G= (p.Arg968=)
c.2715G= (p.Arg905=)
n.577-2010C=
c.*3622-2010C= (n.*3622-2010C=)
c.3618G= (p.Arg1206=)
c.2742G= (p.Arg914=)
c.2091G= (p.Arg697=)
c.1695G= (p.Arg565=)
c.1437G= (p.Arg479=)
10g.75028604G>TCA377291762DUSP29,KAT6Bc.3780G>T (p.Arg1260Ser)
c.3231G>T (p.Arg1077Ser)
c.2904G>T (p.Arg968Ser)
c.2715G>T (p.Arg905Ser)
n.577-2010C>A
c.*3622-2010C>A (n.*3622-2010C>A)
c.3618G>T (p.Arg1206Ser)
c.2742G>T (p.Arg914Ser)
c.2091G>T (p.Arg697Ser)
c.1695G>T (p.Arg565Ser)
c.1437G>T (p.Arg479Ser)
10g.75028605C>ACA377291764DUSP29,KAT6Bc.3781C>A (p.Gln1261Lys)
c.3232C>A (p.Gln1078Lys)
c.2905C>A (p.Gln969Lys)
c.2716C>A (p.Gln906Lys)
n.577-2011G>T
c.*3622-2011G>T (n.*3622-2011G>T)
c.3619C>A (p.Gln1207Lys)
c.2743C>A (p.Gln915Lys)
c.2092C>A (p.Gln698Lys)
c.1696C>A (p.Gln566Lys)
c.1438C>A (p.Gln480Lys)
10g.75028605C>GCA377291765DUSP29,KAT6Bc.3781C>G (p.Gln1261Glu)
c.3232C>G (p.Gln1078Glu)
c.2905C>G (p.Gln969Glu)
c.2716C>G (p.Gln906Glu)
n.577-2011G>C
c.*3622-2011G>C (n.*3622-2011G>C)
c.3619C>G (p.Gln1207Glu)
c.2743C>G (p.Gln915Glu)
c.2092C>G (p.Gln698Glu)
c.1696C>G (p.Gln566Glu)
c.1438C>G (p.Gln480Glu)
10g.75028605C>TCA377291767DUSP29,KAT6Bc.3781C>T (p.Gln1261Ter)
c.3232C>T (p.Gln1078Ter)
c.2905C>T (p.Gln969Ter)
c.2716C>T (p.Gln906Ter)
n.577-2011G>A
c.*3622-2011G>A (n.*3622-2011G>A)
c.3619C>T (p.Gln1207Ter)
c.2743C>T (p.Gln915Ter)
c.2092C>T (p.Gln698Ter)
c.1696C>T (p.Gln566Ter)
c.1438C>T (p.Gln480Ter)
10g.75028606A>CCA377291770DUSP29,KAT6Bc.3782A>C (p.Gln1261Pro)
c.3233A>C (p.Gln1078Pro)
c.2906A>C (p.Gln969Pro)
c.2717A>C (p.Gln906Pro)
n.577-2012T>G
c.*3622-2012T>G (n.*3622-2012T>G)
c.3620A>C (p.Gln1207Pro)
c.2744A>C (p.Gln915Pro)
c.2093A>C (p.Gln698Pro)
c.1697A>C (p.Gln566Pro)
c.1439A>C (p.Gln480Pro)
10g.75028606A>GCA377291771DUSP29,KAT6Bc.3782A>G (p.Gln1261Arg)
c.3233A>G (p.Gln1078Arg)
c.2906A>G (p.Gln969Arg)
c.2717A>G (p.Gln906Arg)
n.577-2012T>C
c.*3622-2012T>C (n.*3622-2012T>C)
c.3620A>G (p.Gln1207Arg)
c.2744A>G (p.Gln915Arg)
c.2093A>G (p.Gln698Arg)
c.1697A>G (p.Gln566Arg)
c.1439A>G (p.Gln480Arg)
10g.75028606A>TCA377291774DUSP29,KAT6Bc.3782A>T (p.Gln1261Leu)
c.3233A>T (p.Gln1078Leu)
c.2906A>T (p.Gln969Leu)
c.2717A>T (p.Gln906Leu)
n.577-2012T>A
c.*3622-2012T>A (n.*3622-2012T>A)
c.3620A>T (p.Gln1207Leu)
c.2744A>T (p.Gln915Leu)
c.2093A>T (p.Gln698Leu)
c.1697A>T (p.Gln566Leu)
c.1439A>T (p.Gln480Leu)
10g.75028607A>CCA377291777DUSP29,KAT6Bc.3783A>C (p.Gln1261His)
c.3234A>C (p.Gln1078His)
c.2907A>C (p.Gln969His)
c.2718A>C (p.Gln906His)
n.577-2013T>G
c.*3622-2013T>G (n.*3622-2013T>G)
c.3621A>C (p.Gln1207His)
c.2745A>C (p.Gln915His)
c.2094A>C (p.Gln698His)
c.1698A>C (p.Gln566His)
c.1440A>C (p.Gln480His)
10g.75028607A>GCA470299522DUSP29,KAT6Bc.3783A>G (p.Gln1261=)
c.3234A>G (p.Gln1078=)
c.2907A>G (p.Gln969=)
c.2718A>G (p.Gln906=)
n.577-2013T>C
c.*3622-2013T>C (n.*3622-2013T>C)
c.3621A>G (p.Gln1207=)
c.2745A>G (p.Gln915=)
c.2094A>G (p.Gln698=)
c.1698A>G (p.Gln566=)
c.1440A>G (p.Gln480=)
10g.75028607A>TCA377291779DUSP29,KAT6Bc.3783A>T (p.Gln1261His)
c.3234A>T (p.Gln1078His)
c.2907A>T (p.Gln969His)
c.2718A>T (p.Gln906His)
n.577-2013T>A
c.*3622-2013T>A (n.*3622-2013T>A)
c.3621A>T (p.Gln1207His)
c.2745A>T (p.Gln915His)
c.2094A>T (p.Gln698His)
c.1698A>T (p.Gln566His)
c.1440A>T (p.Gln480His)
10g.75028608A>CCA377291785DUSP29,KAT6Bc.3784A>C (p.Asn1262His)
c.3235A>C (p.Asn1079His)
c.2908A>C (p.Asn970His)
c.2719A>C (p.Asn907His)
n.577-2014T>G
c.*3622-2014T>G (n.*3622-2014T>G)
c.3622A>C (p.Asn1208His)
c.2746A>C (p.Asn916His)
c.2095A>C (p.Asn699His)
c.1699A>C (p.Asn567His)
c.1441A>C (p.Asn481His)
10g.75028608A>GCA377291783DUSP29,KAT6Bc.3784A>G (p.Asn1262Asp)
c.3235A>G (p.Asn1079Asp)
c.2908A>G (p.Asn970Asp)
c.2719A>G (p.Asn907Asp)
n.577-2014T>C
c.*3622-2014T>C (n.*3622-2014T>C)
c.3622A>G (p.Asn1208Asp)
c.2746A>G (p.Asn916Asp)
c.2095A>G (p.Asn699Asp)
c.1699A>G (p.Asn567Asp)
c.1441A>G (p.Asn481Asp)
10g.75028608A>TCA377291780DUSP29,KAT6Bc.3784A>T (p.Asn1262Tyr)
c.3235A>T (p.Asn1079Tyr)
c.2908A>T (p.Asn970Tyr)
c.2719A>T (p.Asn907Tyr)
n.577-2014T>A
c.*3622-2014T>A (n.*3622-2014T>A)
c.3622A>T (p.Asn1208Tyr)
c.2746A>T (p.Asn916Tyr)
c.2095A>T (p.Asn699Tyr)
c.1699A>T (p.Asn567Tyr)
c.1441A>T (p.Asn481Tyr)
10g.75028609A>CCA377291788DUSP29,KAT6Bc.3785A>C (p.Asn1262Thr)
c.3236A>C (p.Asn1079Thr)
c.2909A>C (p.Asn970Thr)
c.2720A>C (p.Asn907Thr)
n.577-2015T>G
c.*3622-2015T>G (n.*3622-2015T>G)
c.3623A>C (p.Asn1208Thr)
c.2747A>C (p.Asn916Thr)
c.2096A>C (p.Asn699Thr)
c.1700A>C (p.Asn567Thr)
c.1442A>C (p.Asn481Thr)
10g.75028609A>GCA377291787DUSP29,KAT6Bc.3785A>G (p.Asn1262Ser)
c.3236A>G (p.Asn1079Ser)
c.2909A>G (p.Asn970Ser)
c.2720A>G (p.Asn907Ser)
n.577-2015T>C
c.*3622-2015T>C (n.*3622-2015T>C)
c.3623A>G (p.Asn1208Ser)
c.2747A>G (p.Asn916Ser)
c.2096A>G (p.Asn699Ser)
c.1700A>G (p.Asn567Ser)
c.1442A>G (p.Asn481Ser)
10g.75028609A>TCA377291790DUSP29,KAT6Bc.3785A>T (p.Asn1262Ile)
c.3236A>T (p.Asn1079Ile)
c.2909A>T (p.Asn970Ile)
c.2720A>T (p.Asn907Ile)
n.577-2015T>A
c.*3622-2015T>A (n.*3622-2015T>A)
c.3623A>T (p.Asn1208Ile)
c.2747A>T (p.Asn916Ile)
c.2096A>T (p.Asn699Ile)
c.1700A>T (p.Asn567Ile)
c.1442A>T (p.Asn481Ile)
10g.75028610C>ACA377291793DUSP29,KAT6Bc.3786C>A (p.Asn1262Lys)
c.3237C>A (p.Asn1079Lys)
c.2910C>A (p.Asn970Lys)
c.2721C>A (p.Asn907Lys)
n.577-2016G>T
c.*3622-2016G>T (n.*3622-2016G>T)
c.3624C>A (p.Asn1208Lys)
c.2748C>A (p.Asn916Lys)
c.2097C>A (p.Asn699Lys)
c.1701C>A (p.Asn567Lys)
c.1443C>A (p.Asn481Lys)
10g.75028610C>GCA377291794DUSP29,KAT6Bc.3786C>G (p.Asn1262Lys)
c.3237C>G (p.Asn1079Lys)
c.2910C>G (p.Asn970Lys)
c.2721C>G (p.Asn907Lys)
n.577-2016G>C
c.*3622-2016G>C (n.*3622-2016G>C)
c.3624C>G (p.Asn1208Lys)
c.2748C>G (p.Asn916Lys)
c.2097C>G (p.Asn699Lys)
c.1701C>G (p.Asn567Lys)
c.1443C>G (p.Asn481Lys)
10g.75028610C>TCA470299523DUSP29,KAT6Bc.3786C>T (p.Asn1262=)
c.3237C>T (p.Asn1079=)
c.2910C>T (p.Asn970=)
c.2721C>T (p.Asn907=)
n.577-2016G>A
c.*3622-2016G>A (n.*3622-2016G>A)
c.3624C>T (p.Asn1208=)
c.2748C>T (p.Asn916=)
c.2097C>T (p.Asn699=)
c.1701C>T (p.Asn567=)
c.1443C>T (p.Asn481=)
10g.75028610_75028612delinsCAACA1920306400DUSP29,KAT6Bc.3786_3788delinsCAA (p.Asn1262=)
c.3237_3239delinsCAA (p.Asn1079=)
c.2910_2912delinsCAA (p.Asn970=)
c.2721_2723delinsCAA (p.Asn907=)
n.577-2018_577-2016delinsTTG
c.*3622-2018_*3622-2016delinsTTG (n.*3622-2018_*3622-2016delinsTTG)
c.3624_3626delinsCAA (p.Asn1208=)
c.2748_2750delinsCAA (p.Asn916=)
c.2097_2099delinsCAA (p.Asn699=)
c.1701_1703delinsCAA (p.Asn567=)
c.1443_1445delinsCAA (p.Asn481=)
10g.75028611A>CCA377291796DUSP29,KAT6Bc.3787A>C (p.Lys1263Gln)
c.3238A>C (p.Lys1080Gln)
c.2911A>C (p.Lys971Gln)
c.2722A>C (p.Lys908Gln)
n.577-2017T>G
c.*3622-2017T>G (n.*3622-2017T>G)
c.3625A>C (p.Lys1209Gln)
c.2749A>C (p.Lys917Gln)
c.2098A>C (p.Lys700Gln)
c.1702A>C (p.Lys568Gln)
c.1444A>C (p.Lys482Gln)
10g.75028611A>GCA377291798DUSP29,KAT6Bc.3787A>G (p.Lys1263Glu)
c.3238A>G (p.Lys1080Glu)
c.2911A>G (p.Lys971Glu)
c.2722A>G (p.Lys908Glu)
n.577-2017T>C
c.*3622-2017T>C (n.*3622-2017T>C)
c.3625A>G (p.Lys1209Glu)
c.2749A>G (p.Lys917Glu)
c.2098A>G (p.Lys700Glu)
c.1702A>G (p.Lys568Glu)
c.1444A>G (p.Lys482Glu)
 gnomAD v4
10g.75028611A>TCA377291800DUSP29,KAT6Bc.3787A>T (p.Lys1263Ter)
c.3238A>T (p.Lys1080Ter)
c.2911A>T (p.Lys971Ter)
c.2722A>T (p.Lys908Ter)
n.577-2017T>A
c.*3622-2017T>A (n.*3622-2017T>A)
c.3625A>T (p.Lys1209Ter)
c.2749A>T (p.Lys917Ter)
c.2098A>T (p.Lys700Ter)
c.1702A>T (p.Lys568Ter)
c.1444A>T (p.Lys482Ter)
10g.75028612_75028613delCA129315DUSP29,KAT6Bc.3788_3789del (p.Lys1263ArgfsTer7)
c.3239_3240del (p.Lys1080ArgfsTer7)
c.2912_2913del (p.Lys971ArgfsTer7)
c.2723_2724del (p.Lys908ArgfsTer7)
n.577-2018_577-2017del
c.*3622-2018_*3622-2017del (n.*3622-2018_*3622-2017del)
c.3626_3627del (p.Lys1209ArgfsTer7)
c.2750_2751del (p.Lys917ArgfsTer7)
c.2099_2100del (p.Lys700ArgfsTer7)
c.1703_1704del (p.Lys568ArgfsTer7)
c.1445_1446del (p.Lys482ArgfsTer7)
 ClinVar dbSNP
10g.75028612A>CCA377291805DUSP29,KAT6Bc.3788A>C (p.Lys1263Thr)
c.3239A>C (p.Lys1080Thr)
c.2912A>C (p.Lys971Thr)
c.2723A>C (p.Lys908Thr)
n.577-2018T>G
c.*3622-2018T>G (n.*3622-2018T>G)
c.3626A>C (p.Lys1209Thr)
c.2750A>C (p.Lys917Thr)
c.2099A>C (p.Lys700Thr)
c.1703A>C (p.Lys568Thr)
c.1445A>C (p.Lys482Thr)
10g.75028612A>GCA377291804DUSP29,KAT6Bc.3788A>G (p.Lys1263Arg)
c.3239A>G (p.Lys1080Arg)
c.2912A>G (p.Lys971Arg)
c.2723A>G (p.Lys908Arg)
n.577-2018T>C
c.*3622-2018T>C (n.*3622-2018T>C)
c.3626A>G (p.Lys1209Arg)
c.2750A>G (p.Lys917Arg)
c.2099A>G (p.Lys700Arg)
c.1703A>G (p.Lys568Arg)
c.1445A>G (p.Lys482Arg)
10g.75028612A>TCA377291803DUSP29,KAT6Bc.3788A>T (p.Lys1263Ile)
c.3239A>T (p.Lys1080Ile)
c.2912A>T (p.Lys971Ile)
c.2723A>T (p.Lys908Ile)
n.577-2018T>A
c.*3622-2018T>A (n.*3622-2018T>A)
c.3626A>T (p.Lys1209Ile)
c.2750A>T (p.Lys917Ile)
c.2099A>T (p.Lys700Ile)
c.1703A>T (p.Lys568Ile)
c.1445A>T (p.Lys482Ile)
10g.75028613A>CCA377291806DUSP29,KAT6Bc.3789A>C (p.Lys1263Asn)
c.3240A>C (p.Lys1080Asn)
c.2913A>C (p.Lys971Asn)
c.2724A>C (p.Lys908Asn)
n.577-2019T>G
c.*3622-2019T>G (n.*3622-2019T>G)
c.3627A>C (p.Lys1209Asn)
c.2751A>C (p.Lys917Asn)
c.2100A>C (p.Lys700Asn)
c.1704A>C (p.Lys568Asn)
c.1446A>C (p.Lys482Asn)
10g.75028613A>GCA470299524DUSP29,KAT6Bc.3789A>G (p.Lys1263=)
c.3240A>G (p.Lys1080=)
c.2913A>G (p.Lys971=)
c.2724A>G (p.Lys908=)
n.577-2019T>C
c.*3622-2019T>C (n.*3622-2019T>C)
c.3627A>G (p.Lys1209=)
c.2751A>G (p.Lys917=)
c.2100A>G (p.Lys700=)
c.1704A>G (p.Lys568=)
c.1446A>G (p.Lys482=)
10g.75028613A>TCA377291809DUSP29,KAT6Bc.3789A>T (p.Lys1263Asn)
c.3240A>T (p.Lys1080Asn)
c.2913A>T (p.Lys971Asn)
c.2724A>T (p.Lys908Asn)
n.577-2019T>A
c.*3622-2019T>A (n.*3622-2019T>A)
c.3627A>T (p.Lys1209Asn)
c.2751A>T (p.Lys917Asn)
c.2100A>T (p.Lys700Asn)
c.1704A>T (p.Lys568Asn)
c.1446A>T (p.Lys482Asn)
10g.75028614G>ACA377291811DUSP29,KAT6Bc.3790G>A (p.Glu1264Lys)
c.3241G>A (p.Glu1081Lys)
c.2914G>A (p.Glu972Lys)
c.2725G>A (p.Glu909Lys)
n.577-2020C>T
c.*3622-2020C>T (n.*3622-2020C>T)
c.3628G>A (p.Glu1210Lys)
c.2752G>A (p.Glu918Lys)
c.2101G>A (p.Glu701Lys)
c.1705G>A (p.Glu569Lys)
c.1447G>A (p.Glu483Lys)
10g.75028614G>CCA209709081DUSP29,KAT6Bc.3790G>C (p.Glu1264Gln)
c.3241G>C (p.Glu1081Gln)
c.2914G>C (p.Glu972Gln)
c.2725G>C (p.Glu909Gln)
n.577-2020C>G
c.*3622-2020C>G (n.*3622-2020C>G)
c.3628G>C (p.Glu1210Gln)
c.2752G>C (p.Glu918Gln)
c.2101G>C (p.Glu701Gln)
c.1705G>C (p.Glu569Gln)
c.1447G>C (p.Glu483Gln)
 dbSNP gnomAD v4
10g.75028614G=CA1920306401DUSP29,KAT6Bc.3790G= (p.Glu1264=)
c.3241G= (p.Glu1081=)
c.2914G= (p.Glu972=)
c.2725G= (p.Glu909=)
n.577-2020C=
c.*3622-2020C= (n.*3622-2020C=)
c.3628G= (p.Glu1210=)
c.2752G= (p.Glu918=)
c.2101G= (p.Glu701=)
c.1705G= (p.Glu569=)
c.1447G= (p.Glu483=)
10g.75028614G>TCA377291814DUSP29,KAT6Bc.3790G>T (p.Glu1264Ter)
c.3241G>T (p.Glu1081Ter)
c.2914G>T (p.Glu972Ter)
c.2725G>T (p.Glu909Ter)
n.577-2020C>A
c.*3622-2020C>A (n.*3622-2020C>A)
c.3628G>T (p.Glu1210Ter)
c.2752G>T (p.Glu918Ter)
c.2101G>T (p.Glu701Ter)
c.1705G>T (p.Glu569Ter)
c.1447G>T (p.Glu483Ter)
10g.75028615A>CCA377291816DUSP29,KAT6Bc.3791A>C (p.Glu1264Ala)
c.3242A>C (p.Glu1081Ala)
c.2915A>C (p.Glu972Ala)
c.2726A>C (p.Glu909Ala)
n.577-2021T>G
c.*3622-2021T>G (n.*3622-2021T>G)
c.3629A>C (p.Glu1210Ala)
c.2753A>C (p.Glu918Ala)
c.2102A>C (p.Glu701Ala)
c.1706A>C (p.Glu569Ala)
c.1448A>C (p.Glu483Ala)
10g.75028615A>GCA377291820DUSP29,KAT6Bc.3791A>G (p.Glu1264Gly)
c.3242A>G (p.Glu1081Gly)
c.2915A>G (p.Glu972Gly)
c.2726A>G (p.Glu909Gly)
n.577-2021T>C
c.*3622-2021T>C (n.*3622-2021T>C)
c.3629A>G (p.Glu1210Gly)
c.2753A>G (p.Glu918Gly)
c.2102A>G (p.Glu701Gly)
c.1706A>G (p.Glu569Gly)
c.1448A>G (p.Glu483Gly)
10g.75028615A>TCA377291818DUSP29,KAT6Bc.3791A>T (p.Glu1264Val)
c.3242A>T (p.Glu1081Val)
c.2915A>T (p.Glu972Val)
c.2726A>T (p.Glu909Val)
n.577-2021T>A
c.*3622-2021T>A (n.*3622-2021T>A)
c.3629A>T (p.Glu1210Val)
c.2753A>T (p.Glu918Val)
c.2102A>T (p.Glu701Val)
c.1706A>T (p.Glu569Val)
c.1448A>T (p.Glu483Val)
 gnomAD v4
10g.75028616G>ACA470299525DUSP29,KAT6Bc.3792G>A (p.Glu1264=)
c.3243G>A (p.Glu1081=)
c.2916G>A (p.Glu972=)
c.2727G>A (p.Glu909=)
n.577-2022C>T
c.*3622-2022C>T (n.*3622-2022C>T)
c.3630G>A (p.Glu1210=)
c.2754G>A (p.Glu918=)
c.2103G>A (p.Glu701=)
c.1707G>A (p.Glu569=)
c.1449G>A (p.Glu483=)
10g.75028616G>CCA377291821DUSP29,KAT6Bc.3792G>C (p.Glu1264Asp)
c.3243G>C (p.Glu1081Asp)
c.2916G>C (p.Glu972Asp)
c.2727G>C (p.Glu909Asp)
n.577-2022C>G
c.*3622-2022C>G (n.*3622-2022C>G)
c.3630G>C (p.Glu1210Asp)
c.2754G>C (p.Glu918Asp)
c.2103G>C (p.Glu701Asp)
c.1707G>C (p.Glu569Asp)
c.1449G>C (p.Glu483Asp)
10g.75028616G>TCA377291823DUSP29,KAT6Bc.3792G>T (p.Glu1264Asp)
c.3243G>T (p.Glu1081Asp)
c.2916G>T (p.Glu972Asp)
c.2727G>T (p.Glu909Asp)
n.577-2022C>A
c.*3622-2022C>A (n.*3622-2022C>A)
c.3630G>T (p.Glu1210Asp)
c.2754G>T (p.Glu918Asp)
c.2103G>T (p.Glu701Asp)
c.1707G>T (p.Glu569Asp)
c.1449G>T (p.Glu483Asp)
10g.75028617A=CA1920306402DUSP29,KAT6Bc.3793A= (p.Arg1265=)
c.3244A= (p.Arg1082=)
c.2917A= (p.Arg973=)
c.2728A= (p.Arg910=)
n.577-2023T=
c.*3622-2023T= (n.*3622-2023T=)
c.3631A= (p.Arg1211=)
c.2755A= (p.Arg919=)
c.2104A= (p.Arg702=)
c.1708A= (p.Arg570=)
c.1450A= (p.Arg484=)
10g.75028617A>CCA470299526DUSP29,KAT6Bc.3793A>C (p.Arg1265=)
c.3244A>C (p.Arg1082=)
c.2917A>C (p.Arg973=)
c.2728A>C (p.Arg910=)
n.577-2023T>G
c.*3622-2023T>G (n.*3622-2023T>G)
c.3631A>C (p.Arg1211=)
c.2755A>C (p.Arg919=)
c.2104A>C (p.Arg702=)
c.1708A>C (p.Arg570=)
c.1450A>C (p.Arg484=)
10g.75028617A>GCA377291826DUSP29,KAT6Bc.3793A>G (p.Arg1265Gly)
c.3244A>G (p.Arg1082Gly)
c.2917A>G (p.Arg973Gly)
c.2728A>G (p.Arg910Gly)
n.577-2023T>C
c.*3622-2023T>C (n.*3622-2023T>C)
c.3631A>G (p.Arg1211Gly)
c.2755A>G (p.Arg919Gly)
c.2104A>G (p.Arg702Gly)
c.1708A>G (p.Arg570Gly)
c.1450A>G (p.Arg484Gly)
 dbSNP gnomAD v3 gnomAD v4
10g.75028617A>TCA377291827DUSP29,KAT6Bc.3793A>T (p.Arg1265Trp)
c.3244A>T (p.Arg1082Trp)
c.2917A>T (p.Arg973Trp)
c.2728A>T (p.Arg910Trp)
n.577-2023T>A
c.*3622-2023T>A (n.*3622-2023T>A)
c.3631A>T (p.Arg1211Trp)
c.2755A>T (p.Arg919Trp)
c.2104A>T (p.Arg702Trp)
c.1708A>T (p.Arg570Trp)
c.1450A>T (p.Arg484Trp)
10g.75028618G>ACA377291829DUSP29,KAT6Bc.3794G>A (p.Arg1265Lys)
c.3245G>A (p.Arg1082Lys)
c.2918G>A (p.Arg973Lys)
c.2729G>A (p.Arg910Lys)
n.577-2024C>T
c.*3622-2024C>T (n.*3622-2024C>T)
c.3632G>A (p.Arg1211Lys)
c.2756G>A (p.Arg919Lys)
c.2105G>A (p.Arg702Lys)
c.1709G>A (p.Arg570Lys)
c.1451G>A (p.Arg484Lys)
 gnomAD v4
10g.75028618G>CCA377291831DUSP29,KAT6Bc.3794G>C (p.Arg1265Thr)
c.3245G>C (p.Arg1082Thr)
c.2918G>C (p.Arg973Thr)
c.2729G>C (p.Arg910Thr)
n.577-2024C>G
c.*3622-2024C>G (n.*3622-2024C>G)
c.3632G>C (p.Arg1211Thr)
c.2756G>C (p.Arg919Thr)
c.2105G>C (p.Arg702Thr)
c.1709G>C (p.Arg570Thr)
c.1451G>C (p.Arg484Thr)
10g.75028618G>TCA377291835DUSP29,KAT6Bc.3794G>T (p.Arg1265Met)
c.3245G>T (p.Arg1082Met)
c.2918G>T (p.Arg973Met)
c.2729G>T (p.Arg910Met)
n.577-2024C>A
c.*3622-2024C>A (n.*3622-2024C>A)
c.3632G>T (p.Arg1211Met)
c.2756G>T (p.Arg919Met)
c.2105G>T (p.Arg702Met)
c.1709G>T (p.Arg570Met)
c.1451G>T (p.Arg484Met)
10g.75028619G>ACA5564906DUSP29,KAT6Bc.3795G>A (p.Arg1265=)
c.3246G>A (p.Arg1082=)
c.2919G>A (p.Arg973=)
c.2730G>A (p.Arg910=)
n.577-2025C>T
c.*3622-2025C>T (n.*3622-2025C>T)
c.3633G>A (p.Arg1211=)
c.2757G>A (p.Arg919=)
c.2106G>A (p.Arg702=)
c.1710G>A (p.Arg570=)
c.1452G>A (p.Arg484=)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.75028619G>CCA377291840DUSP29,KAT6Bc.3795G>C (p.Arg1265Ser)
c.3246G>C (p.Arg1082Ser)
c.2919G>C (p.Arg973Ser)
c.2730G>C (p.Arg910Ser)
n.577-2025C>G
c.*3622-2025C>G (n.*3622-2025C>G)
c.3633G>C (p.Arg1211Ser)
c.2757G>C (p.Arg919Ser)
c.2106G>C (p.Arg702Ser)
c.1710G>C (p.Arg570Ser)
c.1452G>C (p.Arg484Ser)
10g.75028619G=CA1920306403DUSP29,KAT6Bc.3795G= (p.Arg1265=)
c.3246G= (p.Arg1082=)
c.2919G= (p.Arg973=)
c.2730G= (p.Arg910=)
n.577-2025C=
c.*3622-2025C= (n.*3622-2025C=)
c.3633G= (p.Arg1211=)
c.2757G= (p.Arg919=)
c.2106G= (p.Arg702=)
c.1710G= (p.Arg570=)
c.1452G= (p.Arg484=)
10g.75028619G>TCA377291843DUSP29,KAT6Bc.3795G>T (p.Arg1265Ser)
c.3246G>T (p.Arg1082Ser)
c.2919G>T (p.Arg973Ser)
c.2730G>T (p.Arg910Ser)
n.577-2025C>A
c.*3622-2025C>A (n.*3622-2025C>A)
c.3633G>T (p.Arg1211Ser)
c.2757G>T (p.Arg919Ser)
c.2106G>T (p.Arg702Ser)
c.1710G>T (p.Arg570Ser)
c.1452G>T (p.Arg484Ser)
10g.75028620A=CA1920306404DUSP29,KAT6Bc.3796A= (p.Lys1266=)
c.3247A= (p.Lys1083=)
c.2920A= (p.Lys974=)
c.2731A= (p.Lys911=)
n.577-2026T=
c.*3622-2026T= (n.*3622-2026T=)
c.3634A= (p.Lys1212=)
c.2758A= (p.Lys920=)
c.2107A= (p.Lys703=)
c.1711A= (p.Lys571=)
c.1453A= (p.Lys485=)
10g.75028620A>CCA377291851DUSP29,KAT6Bc.3796A>C (p.Lys1266Gln)
c.3247A>C (p.Lys1083Gln)
c.2920A>C (p.Lys974Gln)
c.2731A>C (p.Lys911Gln)
n.577-2026T>G
c.*3622-2026T>G (n.*3622-2026T>G)
c.3634A>C (p.Lys1212Gln)
c.2758A>C (p.Lys920Gln)
c.2107A>C (p.Lys703Gln)
c.1711A>C (p.Lys571Gln)
c.1453A>C (p.Lys485Gln)
10g.75028620A>GCA5564907DUSP29,KAT6Bc.3796A>G (p.Lys1266Glu)
c.3247A>G (p.Lys1083Glu)
c.2920A>G (p.Lys974Glu)
c.2731A>G (p.Lys911Glu)
n.577-2026T>C
c.*3622-2026T>C (n.*3622-2026T>C)
c.3634A>G (p.Lys1212Glu)
c.2758A>G (p.Lys920Glu)
c.2107A>G (p.Lys703Glu)
c.1711A>G (p.Lys571Glu)
c.1453A>G (p.Lys485Glu)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.75028620A>TCA377291846DUSP29,KAT6Bc.3796A>T (p.Lys1266Ter)
c.3247A>T (p.Lys1083Ter)
c.2920A>T (p.Lys974Ter)
c.2731A>T (p.Lys911Ter)
n.577-2026T>A
c.*3622-2026T>A (n.*3622-2026T>A)
c.3634A>T (p.Lys1212Ter)
c.2758A>T (p.Lys920Ter)
c.2107A>T (p.Lys703Ter)
c.1711A>T (p.Lys571Ter)
c.1453A>T (p.Lys485Ter)
10g.75028621A>CCA377291856DUSP29,KAT6Bc.3797A>C (p.Lys1266Thr)
c.3248A>C (p.Lys1083Thr)
c.2921A>C (p.Lys974Thr)
c.2732A>C (p.Lys911Thr)
n.577-2027T>G
c.*3622-2027T>G (n.*3622-2027T>G)
c.3635A>C (p.Lys1212Thr)
c.2759A>C (p.Lys920Thr)
c.2108A>C (p.Lys703Thr)
c.1712A>C (p.Lys571Thr)
c.1454A>C (p.Lys485Thr)
10g.75028621A>GCA377291861DUSP29,KAT6Bc.3797A>G (p.Lys1266Arg)
c.3248A>G (p.Lys1083Arg)
c.2921A>G (p.Lys974Arg)
c.2732A>G (p.Lys911Arg)
n.577-2027T>C
c.*3622-2027T>C (n.*3622-2027T>C)
c.3635A>G (p.Lys1212Arg)
c.2759A>G (p.Lys920Arg)
c.2108A>G (p.Lys703Arg)
c.1712A>G (p.Lys571Arg)
c.1454A>G (p.Lys485Arg)
 gnomAD v4
10g.75028621A>TCA377291864DUSP29,KAT6Bc.3797A>T (p.Lys1266Met)
c.3248A>T (p.Lys1083Met)
c.2921A>T (p.Lys974Met)
c.2732A>T (p.Lys911Met)
n.577-2027T>A
c.*3622-2027T>A (n.*3622-2027T>A)
c.3635A>T (p.Lys1212Met)
c.2759A>T (p.Lys920Met)
c.2108A>T (p.Lys703Met)
c.1712A>T (p.Lys571Met)
c.1454A>T (p.Lys485Met)
10g.75028622G>ACA470299527DUSP29,KAT6Bc.3798G>A (p.Lys1266=)
c.3249G>A (p.Lys1083=)
c.2922G>A (p.Lys974=)
c.2733G>A (p.Lys911=)
n.577-2028C>T
c.*3622-2028C>T (n.*3622-2028C>T)
c.3636G>A (p.Lys1212=)
c.2760G>A (p.Lys920=)
c.2109G>A (p.Lys703=)
c.1713G>A (p.Lys571=)
c.1455G>A (p.Lys485=)
10g.75028622G>CCA377291868DUSP29,KAT6Bc.3798G>C (p.Lys1266Asn)
c.3249G>C (p.Lys1083Asn)
c.2922G>C (p.Lys974Asn)
c.2733G>C (p.Lys911Asn)
n.577-2028C>G
c.*3622-2028C>G (n.*3622-2028C>G)
c.3636G>C (p.Lys1212Asn)
c.2760G>C (p.Lys920Asn)
c.2109G>C (p.Lys703Asn)
c.1713G>C (p.Lys571Asn)
c.1455G>C (p.Lys485Asn)
 COSMIC
10g.75028622G>TCA377291871DUSP29,KAT6Bc.3798G>T (p.Lys1266Asn)
c.3249G>T (p.Lys1083Asn)
c.2922G>T (p.Lys974Asn)
c.2733G>T (p.Lys911Asn)
n.577-2028C>A
c.*3622-2028C>A (n.*3622-2028C>A)
c.3636G>T (p.Lys1212Asn)
c.2760G>T (p.Lys920Asn)
c.2109G>T (p.Lys703Asn)
c.1713G>T (p.Lys571Asn)
c.1455G>T (p.Lys485Asn)
10g.75028623A>CCA377291874DUSP29,KAT6Bc.3799A>C (p.Thr1267Pro)
c.3250A>C (p.Thr1084Pro)
c.2923A>C (p.Thr975Pro)
c.2734A>C (p.Thr912Pro)
n.577-2029T>G
c.*3622-2029T>G (n.*3622-2029T>G)
c.3637A>C (p.Thr1213Pro)
c.2761A>C (p.Thr921Pro)
c.2110A>C (p.Thr704Pro)
c.1714A>C (p.Thr572Pro)
c.1456A>C (p.Thr486Pro)
10g.75028623A>GCA377291878DUSP29,KAT6Bc.3799A>G (p.Thr1267Ala)
c.3250A>G (p.Thr1084Ala)
c.2923A>G (p.Thr975Ala)
c.2734A>G (p.Thr912Ala)
n.577-2029T>C
c.*3622-2029T>C (n.*3622-2029T>C)
c.3637A>G (p.Thr1213Ala)
c.2761A>G (p.Thr921Ala)
c.2110A>G (p.Thr704Ala)
c.1714A>G (p.Thr572Ala)
c.1456A>G (p.Thr486Ala)
10g.75028623A>TCA377291881DUSP29,KAT6Bc.3799A>T (p.Thr1267Ser)
c.3250A>T (p.Thr1084Ser)
c.2923A>T (p.Thr975Ser)
c.2734A>T (p.Thr912Ser)
n.577-2029T>A
c.*3622-2029T>A (n.*3622-2029T>A)
c.3637A>T (p.Thr1213Ser)
c.2761A>T (p.Thr921Ser)
c.2110A>T (p.Thr704Ser)
c.1714A>T (p.Thr572Ser)
c.1456A>T (p.Thr486Ser)
 gnomAD v4
10g.75028624C>ACA377291885DUSP29,KAT6Bc.3800C>A (p.Thr1267Asn)
c.3251C>A (p.Thr1084Asn)
c.2924C>A (p.Thr975Asn)
c.2735C>A (p.Thr912Asn)
n.577-2030G>T
c.*3622-2030G>T (n.*3622-2030G>T)
c.3638C>A (p.Thr1213Asn)
c.2762C>A (p.Thr921Asn)
c.2111C>A (p.Thr704Asn)
c.1715C>A (p.Thr572Asn)
c.1457C>A (p.Thr486Asn)
10g.75028624C=CA1920306405DUSP29,KAT6Bc.3800C= (p.Thr1267=)
c.3251C= (p.Thr1084=)
c.2924C= (p.Thr975=)
c.2735C= (p.Thr912=)
n.577-2030G=
c.*3622-2030G= (n.*3622-2030G=)
c.3638C= (p.Thr1213=)
c.2762C= (p.Thr921=)
c.2111C= (p.Thr704=)
c.1715C= (p.Thr572=)
c.1457C= (p.Thr486=)
10g.75028624C>GCA209709106DUSP29,KAT6Bc.3800C>G (p.Thr1267Ser)
c.3251C>G (p.Thr1084Ser)
c.2924C>G (p.Thr975Ser)
c.2735C>G (p.Thr912Ser)
n.577-2030G>C
c.*3622-2030G>C (n.*3622-2030G>C)
c.3638C>G (p.Thr1213Ser)
c.2762C>G (p.Thr921Ser)
c.2111C>G (p.Thr704Ser)
c.1715C>G (p.Thr572Ser)
c.1457C>G (p.Thr486Ser)
 dbSNP gnomAD v3 gnomAD v4
10g.75028624C>TCA377291891DUSP29,KAT6Bc.3800C>T (p.Thr1267Ile)
c.3251C>T (p.Thr1084Ile)
c.2924C>T (p.Thr975Ile)
c.2735C>T (p.Thr912Ile)
n.577-2030G>A
c.*3622-2030G>A (n.*3622-2030G>A)
c.3638C>T (p.Thr1213Ile)
c.2762C>T (p.Thr921Ile)
c.2111C>T (p.Thr704Ile)
c.1715C>T (p.Thr572Ile)
c.1457C>T (p.Thr486Ile)
10g.75028625C>ACA470299528DUSP29,KAT6Bc.3801C>A (p.Thr1267=)
c.3252C>A (p.Thr1084=)
c.2925C>A (p.Thr975=)
c.2736C>A (p.Thr912=)
n.577-2031G>T
c.*3622-2031G>T (n.*3622-2031G>T)
c.3639C>A (p.Thr1213=)
c.2763C>A (p.Thr921=)
c.2112C>A (p.Thr704=)
c.1716C>A (p.Thr572=)
c.1458C>A (p.Thr486=)
10g.75028625C=CA1920306406DUSP29,KAT6Bc.3801C= (p.Thr1267=)
c.3252C= (p.Thr1084=)
c.2925C= (p.Thr975=)
c.2736C= (p.Thr912=)
n.577-2031G=
c.*3622-2031G= (n.*3622-2031G=)
c.3639C= (p.Thr1213=)
c.2763C= (p.Thr921=)
c.2112C= (p.Thr704=)
c.1716C= (p.Thr572=)
c.1458C= (p.Thr486=)
10g.75028625C>GCA470299529DUSP29,KAT6Bc.3801C>G (p.Thr1267=)
c.3252C>G (p.Thr1084=)
c.2925C>G (p.Thr975=)
c.2736C>G (p.Thr912=)
n.577-2031G>C
c.*3622-2031G>C (n.*3622-2031G>C)
c.3639C>G (p.Thr1213=)
c.2763C>G (p.Thr921=)
c.2112C>G (p.Thr704=)
c.1716C>G (p.Thr572=)
c.1458C>G (p.Thr486=)
 dbSNP gnomAD v4
10g.75028625C>TCA5564908DUSP29,KAT6Bc.3801C>T (p.Thr1267=)
c.3252C>T (p.Thr1084=)
c.2925C>T (p.Thr975=)
c.2736C>T (p.Thr912=)
n.577-2031G>A
c.*3622-2031G>A (n.*3622-2031G>A)
c.3639C>T (p.Thr1213=)
c.2763C>T (p.Thr921=)
c.2112C>T (p.Thr704=)
c.1716C>T (p.Thr572=)
c.1458C>T (p.Thr486=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched