Chr Mutation (hg38) CAid Gene Transcript Linkouts
10g.75029106G>ACA209709766DUSP29,KAT6Bc.4282G>A (p.Asp1428Asn)
c.3733G>A (p.Asp1245Asn)
c.3406G>A (p.Asp1136Asn)
n.577-2512C>T
c.*3622-2512C>T (n.*3622-2512C>T)
c.4120G>A (p.Asp1374Asn)
c.3244G>A (p.Asp1082Asn)
c.2593G>A (p.Asp865Asn)
c.2197G>A (p.Asp733Asn)
c.1939G>A (p.Asp647Asn)
c.3217G>A (p.Asp1073Asn)
 dbSNP gnomAD v3 gnomAD v4
10g.75029106G>CCA377296610DUSP29,KAT6Bc.4282G>C (p.Asp1428His)
c.3733G>C (p.Asp1245His)
c.3406G>C (p.Asp1136His)
n.577-2512C>G
c.*3622-2512C>G (n.*3622-2512C>G)
c.4120G>C (p.Asp1374His)
c.3244G>C (p.Asp1082His)
c.2593G>C (p.Asp865His)
c.2197G>C (p.Asp733His)
c.1939G>C (p.Asp647His)
c.3217G>C (p.Asp1073His)
10g.75029106G=CA1920306611DUSP29,KAT6Bc.4282G= (p.Asp1428=)
c.3733G= (p.Asp1245=)
c.3406G= (p.Asp1136=)
n.577-2512C=
c.*3622-2512C= (n.*3622-2512C=)
c.4120G= (p.Asp1374=)
c.3244G= (p.Asp1082=)
c.2593G= (p.Asp865=)
c.2197G= (p.Asp733=)
c.1939G= (p.Asp647=)
c.3217G= (p.Asp1073=)
10g.75029106G>TCA377296611DUSP29,KAT6Bc.4282G>T (p.Asp1428Tyr)
c.3733G>T (p.Asp1245Tyr)
c.3406G>T (p.Asp1136Tyr)
n.577-2512C>A
c.*3622-2512C>A (n.*3622-2512C>A)
c.4120G>T (p.Asp1374Tyr)
c.3244G>T (p.Asp1082Tyr)
c.2593G>T (p.Asp865Tyr)
c.2197G>T (p.Asp733Tyr)
c.1939G>T (p.Asp647Tyr)
c.3217G>T (p.Asp1073Tyr)
10g.75029107A>CCA377296612DUSP29,KAT6Bc.4283A>C (p.Asp1428Ala)
c.3734A>C (p.Asp1245Ala)
c.3407A>C (p.Asp1136Ala)
n.577-2513T>G
c.*3622-2513T>G (n.*3622-2513T>G)
c.4121A>C (p.Asp1374Ala)
c.3245A>C (p.Asp1082Ala)
c.2594A>C (p.Asp865Ala)
c.2198A>C (p.Asp733Ala)
c.1940A>C (p.Asp647Ala)
c.3218A>C (p.Asp1073Ala)
10g.75029107A>GCA377296613DUSP29,KAT6Bc.4283A>G (p.Asp1428Gly)
c.3734A>G (p.Asp1245Gly)
c.3407A>G (p.Asp1136Gly)
n.577-2513T>C
c.*3622-2513T>C (n.*3622-2513T>C)
c.4121A>G (p.Asp1374Gly)
c.3245A>G (p.Asp1082Gly)
c.2594A>G (p.Asp865Gly)
c.2198A>G (p.Asp733Gly)
c.1940A>G (p.Asp647Gly)
c.3218A>G (p.Asp1073Gly)
10g.75029107A>TCA377296614DUSP29,KAT6Bc.4283A>T (p.Asp1428Val)
c.3734A>T (p.Asp1245Val)
c.3407A>T (p.Asp1136Val)
n.577-2513T>A
c.*3622-2513T>A (n.*3622-2513T>A)
c.4121A>T (p.Asp1374Val)
c.3245A>T (p.Asp1082Val)
c.2594A>T (p.Asp865Val)
c.2198A>T (p.Asp733Val)
c.1940A>T (p.Asp647Val)
c.3218A>T (p.Asp1073Val)
10g.75029108C>ACA377296615DUSP29,KAT6Bc.4284C>A (p.Asp1428Glu)
c.3735C>A (p.Asp1245Glu)
c.3408C>A (p.Asp1136Glu)
n.577-2514G>T
c.*3622-2514G>T (n.*3622-2514G>T)
c.4122C>A (p.Asp1374Glu)
c.3246C>A (p.Asp1082Glu)
c.2595C>A (p.Asp865Glu)
c.2199C>A (p.Asp733Glu)
c.1941C>A (p.Asp647Glu)
c.3219C>A (p.Asp1073Glu)
10g.75029108C=CA1920306612DUSP29,KAT6Bc.4284C= (p.Asp1428=)
c.3735C= (p.Asp1245=)
c.3408C= (p.Asp1136=)
n.577-2514G=
c.*3622-2514G= (n.*3622-2514G=)
c.4122C= (p.Asp1374=)
c.3246C= (p.Asp1082=)
c.2595C= (p.Asp865=)
c.2199C= (p.Asp733=)
c.1941C= (p.Asp647=)
c.3219C= (p.Asp1073=)
10g.75029108C>GCA377296616DUSP29,KAT6Bc.4284C>G (p.Asp1428Glu)
c.3735C>G (p.Asp1245Glu)
c.3408C>G (p.Asp1136Glu)
n.577-2514G>C
c.*3622-2514G>C (n.*3622-2514G>C)
c.4122C>G (p.Asp1374Glu)
c.3246C>G (p.Asp1082Glu)
c.2595C>G (p.Asp865Glu)
c.2199C>G (p.Asp733Glu)
c.1941C>G (p.Asp647Glu)
c.3219C>G (p.Asp1073Glu)
 dbSNP
10g.75029108C>TCA5565015DUSP29,KAT6Bc.4284C>T (p.Asp1428=)
c.3735C>T (p.Asp1245=)
c.3408C>T (p.Asp1136=)
n.577-2514G>A
c.*3622-2514G>A (n.*3622-2514G>A)
c.4122C>T (p.Asp1374=)
c.3246C>T (p.Asp1082=)
c.2595C>T (p.Asp865=)
c.2199C>T (p.Asp733=)
c.1941C>T (p.Asp647=)
c.3219C>T (p.Asp1073=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.75029109G>ACA377296617DUSP29,KAT6Bc.4285G>A (p.Glu1429Lys)
c.3736G>A (p.Glu1246Lys)
c.3409G>A (p.Glu1137Lys)
n.577-2515C>T
c.*3622-2515C>T (n.*3622-2515C>T)
c.4123G>A (p.Glu1375Lys)
c.3247G>A (p.Glu1083Lys)
c.2596G>A (p.Glu866Lys)
c.2200G>A (p.Glu734Lys)
c.1942G>A (p.Glu648Lys)
c.3220G>A (p.Glu1074Lys)
 ClinVar dbSNP gnomAD v4
10g.75029109G>CCA377296619DUSP29,KAT6Bc.4285G>C (p.Glu1429Gln)
c.3736G>C (p.Glu1246Gln)
c.3409G>C (p.Glu1137Gln)
n.577-2515C>G
c.*3622-2515C>G (n.*3622-2515C>G)
c.4123G>C (p.Glu1375Gln)
c.3247G>C (p.Glu1083Gln)
c.2596G>C (p.Glu866Gln)
c.2200G>C (p.Glu734Gln)
c.1942G>C (p.Glu648Gln)
c.3220G>C (p.Glu1074Gln)
10g.75029109G=CA1920306613DUSP29,KAT6Bc.4285G= (p.Glu1429=)
c.3736G= (p.Glu1246=)
c.3409G= (p.Glu1137=)
n.577-2515C=
c.*3622-2515C= (n.*3622-2515C=)
c.4123G= (p.Glu1375=)
c.3247G= (p.Glu1083=)
c.2596G= (p.Glu866=)
c.2200G= (p.Glu734=)
c.1942G= (p.Glu648=)
c.3220G= (p.Glu1074=)
10g.75029109G>TCA377296618DUSP29,KAT6Bc.4285G>T (p.Glu1429Ter)
c.3736G>T (p.Glu1246Ter)
c.3409G>T (p.Glu1137Ter)
n.577-2515C>A
c.*3622-2515C>A (n.*3622-2515C>A)
c.4123G>T (p.Glu1375Ter)
c.3247G>T (p.Glu1083Ter)
c.2596G>T (p.Glu866Ter)
c.2200G>T (p.Glu734Ter)
c.1942G>T (p.Glu648Ter)
c.3220G>T (p.Glu1074Ter)
10g.75029110A>CCA377296620DUSP29,KAT6Bc.4286A>C (p.Glu1429Ala)
c.3737A>C (p.Glu1246Ala)
c.3410A>C (p.Glu1137Ala)
n.577-2516T>G
c.*3622-2516T>G (n.*3622-2516T>G)
c.4124A>C (p.Glu1375Ala)
c.3248A>C (p.Glu1083Ala)
c.2597A>C (p.Glu866Ala)
c.2201A>C (p.Glu734Ala)
c.1943A>C (p.Glu648Ala)
c.3221A>C (p.Glu1074Ala)
10g.75029110A>GCA377296621DUSP29,KAT6Bc.4286A>G (p.Glu1429Gly)
c.3737A>G (p.Glu1246Gly)
c.3410A>G (p.Glu1137Gly)
n.577-2516T>C
c.*3622-2516T>C (n.*3622-2516T>C)
c.4124A>G (p.Glu1375Gly)
c.3248A>G (p.Glu1083Gly)
c.2597A>G (p.Glu866Gly)
c.2201A>G (p.Glu734Gly)
c.1943A>G (p.Glu648Gly)
c.3221A>G (p.Glu1074Gly)
10g.75029110A>TCA377296622DUSP29,KAT6Bc.4286A>T (p.Glu1429Val)
c.3737A>T (p.Glu1246Val)
c.3410A>T (p.Glu1137Val)
n.577-2516T>A
c.*3622-2516T>A (n.*3622-2516T>A)
c.4124A>T (p.Glu1375Val)
c.3248A>T (p.Glu1083Val)
c.2597A>T (p.Glu866Val)
c.2201A>T (p.Glu734Val)
c.1943A>T (p.Glu648Val)
c.3221A>T (p.Glu1074Val)
10g.75029111G>ACA470299968DUSP29,KAT6Bc.4287G>A (p.Glu1429=)
c.3738G>A (p.Glu1246=)
c.3411G>A (p.Glu1137=)
n.577-2517C>T
c.*3622-2517C>T (n.*3622-2517C>T)
c.4125G>A (p.Glu1375=)
c.3249G>A (p.Glu1083=)
c.2598G>A (p.Glu866=)
c.2202G>A (p.Glu734=)
c.1944G>A (p.Glu648=)
c.3222G>A (p.Glu1074=)
 gnomAD v4
10g.75029111G>CCA377296623DUSP29,KAT6Bc.4287G>C (p.Glu1429Asp)
c.3738G>C (p.Glu1246Asp)
c.3411G>C (p.Glu1137Asp)
n.577-2517C>G
c.*3622-2517C>G (n.*3622-2517C>G)
c.4125G>C (p.Glu1375Asp)
c.3249G>C (p.Glu1083Asp)
c.2598G>C (p.Glu866Asp)
c.2202G>C (p.Glu734Asp)
c.1944G>C (p.Glu648Asp)
c.3222G>C (p.Glu1074Asp)
10g.75029111G>TCA377296624DUSP29,KAT6Bc.4287G>T (p.Glu1429Asp)
c.3738G>T (p.Glu1246Asp)
c.3411G>T (p.Glu1137Asp)
n.577-2517C>A
c.*3622-2517C>A (n.*3622-2517C>A)
c.4125G>T (p.Glu1375Asp)
c.3249G>T (p.Glu1083Asp)
c.2598G>T (p.Glu866Asp)
c.2202G>T (p.Glu734Asp)
c.1944G>T (p.Glu648Asp)
c.3222G>T (p.Glu1074Asp)
10g.75029112G>ACA377296625DUSP29,KAT6Bc.4288G>A (p.Asp1430Asn)
c.3739G>A (p.Asp1247Asn)
c.3412G>A (p.Asp1138Asn)
n.577-2518C>T
c.*3622-2518C>T (n.*3622-2518C>T)
c.4126G>A (p.Asp1376Asn)
c.3250G>A (p.Asp1084Asn)
c.2599G>A (p.Asp867Asn)
c.2203G>A (p.Asp735Asn)
c.1945G>A (p.Asp649Asn)
c.3223G>A (p.Asp1075Asn)
10g.75029112G>CCA377296626DUSP29,KAT6Bc.4288G>C (p.Asp1430His)
c.3739G>C (p.Asp1247His)
c.3412G>C (p.Asp1138His)
n.577-2518C>G
c.*3622-2518C>G (n.*3622-2518C>G)
c.4126G>C (p.Asp1376His)
c.3250G>C (p.Asp1084His)
c.2599G>C (p.Asp867His)
c.2203G>C (p.Asp735His)
c.1945G>C (p.Asp649His)
c.3223G>C (p.Asp1075His)
10g.75029112G>TCA377296627DUSP29,KAT6Bc.4288G>T (p.Asp1430Tyr)
c.3739G>T (p.Asp1247Tyr)
c.3412G>T (p.Asp1138Tyr)
n.577-2518C>A
c.*3622-2518C>A (n.*3622-2518C>A)
c.4126G>T (p.Asp1376Tyr)
c.3250G>T (p.Asp1084Tyr)
c.2599G>T (p.Asp867Tyr)
c.2203G>T (p.Asp735Tyr)
c.1945G>T (p.Asp649Tyr)
c.3223G>T (p.Asp1075Tyr)
10g.75029113A=CA1920306614DUSP29,KAT6Bc.4289A= (p.Asp1430=)
c.3740A= (p.Asp1247=)
c.3413A= (p.Asp1138=)
n.577-2519T=
c.*3622-2519T= (n.*3622-2519T=)
c.4127A= (p.Asp1376=)
c.3251A= (p.Asp1084=)
c.2600A= (p.Asp867=)
c.2204A= (p.Asp735=)
c.1946A= (p.Asp649=)
c.3224A= (p.Asp1075=)
10g.75029113A>CCA377296628DUSP29,KAT6Bc.4289A>C (p.Asp1430Ala)
c.3740A>C (p.Asp1247Ala)
c.3413A>C (p.Asp1138Ala)
n.577-2519T>G
c.*3622-2519T>G (n.*3622-2519T>G)
c.4127A>C (p.Asp1376Ala)
c.3251A>C (p.Asp1084Ala)
c.2600A>C (p.Asp867Ala)
c.2204A>C (p.Asp735Ala)
c.1946A>C (p.Asp649Ala)
c.3224A>C (p.Asp1075Ala)
10g.75029113A>GCA377296629DUSP29,KAT6Bc.4289A>G (p.Asp1430Gly)
c.3740A>G (p.Asp1247Gly)
c.3413A>G (p.Asp1138Gly)
n.577-2519T>C
c.*3622-2519T>C (n.*3622-2519T>C)
c.4127A>G (p.Asp1376Gly)
c.3251A>G (p.Asp1084Gly)
c.2600A>G (p.Asp867Gly)
c.2204A>G (p.Asp735Gly)
c.1946A>G (p.Asp649Gly)
c.3224A>G (p.Asp1075Gly)
10g.75029113A>TCA377296630DUSP29,KAT6Bc.4289A>T (p.Asp1430Val)
c.3740A>T (p.Asp1247Val)
c.3413A>T (p.Asp1138Val)
n.577-2519T>A
c.*3622-2519T>A (n.*3622-2519T>A)
c.4127A>T (p.Asp1376Val)
c.3251A>T (p.Asp1084Val)
c.2600A>T (p.Asp867Val)
c.2204A>T (p.Asp735Val)
c.1946A>T (p.Asp649Val)
c.3224A>T (p.Asp1075Val)
 dbSNP
10g.75029114T>ACA377296631DUSP29,KAT6Bc.4290T>A (p.Asp1430Glu)
c.3741T>A (p.Asp1247Glu)
c.3414T>A (p.Asp1138Glu)
n.577-2520A>T
c.*3622-2520A>T (n.*3622-2520A>T)
c.4128T>A (p.Asp1376Glu)
c.3252T>A (p.Asp1084Glu)
c.2601T>A (p.Asp867Glu)
c.2205T>A (p.Asp735Glu)
c.1947T>A (p.Asp649Glu)
c.3225T>A (p.Asp1075Glu)
10g.75029114T>CCA470299975DUSP29,KAT6Bc.4290T>C (p.Asp1430=)
c.3741T>C (p.Asp1247=)
c.3414T>C (p.Asp1138=)
n.577-2520A>G
c.*3622-2520A>G (n.*3622-2520A>G)
c.4128T>C (p.Asp1376=)
c.3252T>C (p.Asp1084=)
c.2601T>C (p.Asp867=)
c.2205T>C (p.Asp735=)
c.1947T>C (p.Asp649=)
c.3225T>C (p.Asp1075=)
10g.75029114T>GCA377296632DUSP29,KAT6Bc.4290T>G (p.Asp1430Glu)
c.3741T>G (p.Asp1247Glu)
c.3414T>G (p.Asp1138Glu)
n.577-2520A>C
c.*3622-2520A>C (n.*3622-2520A>C)
c.4128T>G (p.Asp1376Glu)
c.3252T>G (p.Asp1084Glu)
c.2601T>G (p.Asp867Glu)
c.2205T>G (p.Asp735Glu)
c.1947T>G (p.Asp649Glu)
c.3225T>G (p.Asp1075Glu)
10g.75029115G>ACA377296635DUSP29,KAT6Bc.4291G>A (p.Asp1431Asn)
c.3742G>A (p.Asp1248Asn)
c.3415G>A (p.Asp1139Asn)
n.577-2521C>T
c.*3622-2521C>T (n.*3622-2521C>T)
c.4129G>A (p.Asp1377Asn)
c.3253G>A (p.Asp1085Asn)
c.2602G>A (p.Asp868Asn)
c.2206G>A (p.Asp736Asn)
c.1948G>A (p.Asp650Asn)
c.3226G>A (p.Asp1076Asn)
10g.75029115G>CCA377296634DUSP29,KAT6Bc.4291G>C (p.Asp1431His)
c.3742G>C (p.Asp1248His)
c.3415G>C (p.Asp1139His)
n.577-2521C>G
c.*3622-2521C>G (n.*3622-2521C>G)
c.4129G>C (p.Asp1377His)
c.3253G>C (p.Asp1085His)
c.2602G>C (p.Asp868His)
c.2206G>C (p.Asp736His)
c.1948G>C (p.Asp650His)
c.3226G>C (p.Asp1076His)
10g.75029115G>TCA377296633DUSP29,KAT6Bc.4291G>T (p.Asp1431Tyr)
c.3742G>T (p.Asp1248Tyr)
c.3415G>T (p.Asp1139Tyr)
n.577-2521C>A
c.*3622-2521C>A (n.*3622-2521C>A)
c.4129G>T (p.Asp1377Tyr)
c.3253G>T (p.Asp1085Tyr)
c.2602G>T (p.Asp868Tyr)
c.2206G>T (p.Asp736Tyr)
c.1948G>T (p.Asp650Tyr)
c.3226G>T (p.Asp1076Tyr)
10g.75029116A>CCA377296636DUSP29,KAT6Bc.4292A>C (p.Asp1431Ala)
c.3743A>C (p.Asp1248Ala)
c.3416A>C (p.Asp1139Ala)
n.577-2522T>G
c.*3622-2522T>G (n.*3622-2522T>G)
c.4130A>C (p.Asp1377Ala)
c.3254A>C (p.Asp1085Ala)
c.2603A>C (p.Asp868Ala)
c.2207A>C (p.Asp736Ala)
c.1949A>C (p.Asp650Ala)
c.3227A>C (p.Asp1076Ala)
10g.75029116A>GCA377296637DUSP29,KAT6Bc.4292A>G (p.Asp1431Gly)
c.3743A>G (p.Asp1248Gly)
c.3416A>G (p.Asp1139Gly)
n.577-2522T>C
c.*3622-2522T>C (n.*3622-2522T>C)
c.4130A>G (p.Asp1377Gly)
c.3254A>G (p.Asp1085Gly)
c.2603A>G (p.Asp868Gly)
c.2207A>G (p.Asp736Gly)
c.1949A>G (p.Asp650Gly)
c.3227A>G (p.Asp1076Gly)
10g.75029116A>TCA377296638DUSP29,KAT6Bc.4292A>T (p.Asp1431Val)
c.3743A>T (p.Asp1248Val)
c.3416A>T (p.Asp1139Val)
n.577-2522T>A
c.*3622-2522T>A (n.*3622-2522T>A)
c.4130A>T (p.Asp1377Val)
c.3254A>T (p.Asp1085Val)
c.2603A>T (p.Asp868Val)
c.2207A>T (p.Asp736Val)
c.1949A>T (p.Asp650Val)
c.3227A>T (p.Asp1076Val)
10g.75029117C>ACA377296639DUSP29,KAT6Bc.4293C>A (p.Asp1431Glu)
c.3744C>A (p.Asp1248Glu)
c.3417C>A (p.Asp1139Glu)
n.577-2523G>T
c.*3622-2523G>T (n.*3622-2523G>T)
c.4131C>A (p.Asp1377Glu)
c.3255C>A (p.Asp1085Glu)
c.2604C>A (p.Asp868Glu)
c.2208C>A (p.Asp736Glu)
c.1950C>A (p.Asp650Glu)
c.3228C>A (p.Asp1076Glu)
10g.75029117C>GCA377296640DUSP29,KAT6Bc.4293C>G (p.Asp1431Glu)
c.3744C>G (p.Asp1248Glu)
c.3417C>G (p.Asp1139Glu)
n.577-2523G>C
c.*3622-2523G>C (n.*3622-2523G>C)
c.4131C>G (p.Asp1377Glu)
c.3255C>G (p.Asp1085Glu)
c.2604C>G (p.Asp868Glu)
c.2208C>G (p.Asp736Glu)
c.1950C>G (p.Asp650Glu)
c.3228C>G (p.Asp1076Glu)
10g.75029117C>TCA470299981DUSP29,KAT6Bc.4293C>T (p.Asp1431=)
c.3744C>T (p.Asp1248=)
c.3417C>T (p.Asp1139=)
n.577-2523G>A
c.*3622-2523G>A (n.*3622-2523G>A)
c.4131C>T (p.Asp1377=)
c.3255C>T (p.Asp1085=)
c.2604C>T (p.Asp868=)
c.2208C>T (p.Asp736=)
c.1950C>T (p.Asp650=)
c.3228C>T (p.Asp1076=)
10g.75029118A>CCA377296641DUSP29,KAT6Bc.4294A>C (p.Ser1432Arg)
c.3745A>C (p.Ser1249Arg)
c.3418A>C (p.Ser1140Arg)
n.577-2524T>G
c.*3622-2524T>G (n.*3622-2524T>G)
c.4132A>C (p.Ser1378Arg)
c.3256A>C (p.Ser1086Arg)
c.2605A>C (p.Ser869Arg)
c.2209A>C (p.Ser737Arg)
c.1951A>C (p.Ser651Arg)
c.3229A>C (p.Ser1077Arg)
 COSMIC
10g.75029118A>GCA377296642DUSP29,KAT6Bc.4294A>G (p.Ser1432Gly)
c.3745A>G (p.Ser1249Gly)
c.3418A>G (p.Ser1140Gly)
n.577-2524T>C
c.*3622-2524T>C (n.*3622-2524T>C)
c.4132A>G (p.Ser1378Gly)
c.3256A>G (p.Ser1086Gly)
c.2605A>G (p.Ser869Gly)
c.2209A>G (p.Ser737Gly)
c.1951A>G (p.Ser651Gly)
c.3229A>G (p.Ser1077Gly)
10g.75029118A>TCA377296643DUSP29,KAT6Bc.4294A>T (p.Ser1432Cys)
c.3745A>T (p.Ser1249Cys)
c.3418A>T (p.Ser1140Cys)
n.577-2524T>A
c.*3622-2524T>A (n.*3622-2524T>A)
c.4132A>T (p.Ser1378Cys)
c.3256A>T (p.Ser1086Cys)
c.2605A>T (p.Ser869Cys)
c.2209A>T (p.Ser737Cys)
c.1951A>T (p.Ser651Cys)
c.3229A>T (p.Ser1077Cys)
10g.75029119G>ACA377296644DUSP29,KAT6Bc.4295G>A (p.Ser1432Asn)
c.3746G>A (p.Ser1249Asn)
c.3419G>A (p.Ser1140Asn)
n.577-2525C>T
c.*3622-2525C>T (n.*3622-2525C>T)
c.4133G>A (p.Ser1378Asn)
c.3257G>A (p.Ser1086Asn)
c.2606G>A (p.Ser869Asn)
c.2210G>A (p.Ser737Asn)
c.1952G>A (p.Ser651Asn)
c.3230G>A (p.Ser1077Asn)
10g.75029119G>CCA377296645DUSP29,KAT6Bc.4295G>C (p.Ser1432Thr)
c.3746G>C (p.Ser1249Thr)
c.3419G>C (p.Ser1140Thr)
n.577-2525C>G
c.*3622-2525C>G (n.*3622-2525C>G)
c.4133G>C (p.Ser1378Thr)
c.3257G>C (p.Ser1086Thr)
c.2606G>C (p.Ser869Thr)
c.2210G>C (p.Ser737Thr)
c.1952G>C (p.Ser651Thr)
c.3230G>C (p.Ser1077Thr)
10g.75029119G>TCA377296646DUSP29,KAT6Bc.4295G>T (p.Ser1432Ile)
c.3746G>T (p.Ser1249Ile)
c.3419G>T (p.Ser1140Ile)
n.577-2525C>A
c.*3622-2525C>A (n.*3622-2525C>A)
c.4133G>T (p.Ser1378Ile)
c.3257G>T (p.Ser1086Ile)
c.2606G>T (p.Ser869Ile)
c.2210G>T (p.Ser737Ile)
c.1952G>T (p.Ser651Ile)
c.3230G>T (p.Ser1077Ile)
10g.75029120C>ACA377296647DUSP29,KAT6Bc.4296C>A (p.Ser1432Arg)
c.3747C>A (p.Ser1249Arg)
c.3420C>A (p.Ser1140Arg)
n.577-2526G>T
c.*3622-2526G>T (n.*3622-2526G>T)
c.4134C>A (p.Ser1378Arg)
c.3258C>A (p.Ser1086Arg)
c.2607C>A (p.Ser869Arg)
c.2211C>A (p.Ser737Arg)
c.1953C>A (p.Ser651Arg)
c.3231C>A (p.Ser1077Arg)
10g.75029120C>GCA377296648DUSP29,KAT6Bc.4296C>G (p.Ser1432Arg)
c.3747C>G (p.Ser1249Arg)
c.3420C>G (p.Ser1140Arg)
n.577-2526G>C
c.*3622-2526G>C (n.*3622-2526G>C)
c.4134C>G (p.Ser1378Arg)
c.3258C>G (p.Ser1086Arg)
c.2607C>G (p.Ser869Arg)
c.2211C>G (p.Ser737Arg)
c.1953C>G (p.Ser651Arg)
c.3231C>G (p.Ser1077Arg)
10g.75029120C>TCA470299985DUSP29,KAT6Bc.4296C>T (p.Ser1432=)
c.3747C>T (p.Ser1249=)
c.3420C>T (p.Ser1140=)
n.577-2526G>A
c.*3622-2526G>A (n.*3622-2526G>A)
c.4134C>T (p.Ser1378=)
c.3258C>T (p.Ser1086=)
c.2607C>T (p.Ser869=)
c.2211C>T (p.Ser737=)
c.1953C>T (p.Ser651=)
c.3231C>T (p.Ser1077=)
10g.75029121C>ACA377296649DUSP29,KAT6Bc.4297C>A (p.His1433Asn)
c.3748C>A (p.His1250Asn)
c.3421C>A (p.His1141Asn)
n.577-2527G>T
c.*3622-2527G>T (n.*3622-2527G>T)
c.4135C>A (p.His1379Asn)
c.3259C>A (p.His1087Asn)
c.2608C>A (p.His870Asn)
c.2212C>A (p.His738Asn)
c.1954C>A (p.His652Asn)
c.3232C>A (p.His1078Asn)
10g.75029121C=CA1920306616DUSP29,KAT6Bc.4297C= (p.His1433=)
c.3748C= (p.His1250=)
c.3421C= (p.His1141=)
n.577-2527G=
c.*3622-2527G= (n.*3622-2527G=)
c.4135C= (p.His1379=)
c.3259C= (p.His1087=)
c.2608C= (p.His870=)
c.2212C= (p.His738=)
c.1954C= (p.His652=)
c.3232C= (p.His1078=)
10g.75029121C>GCA377296650DUSP29,KAT6Bc.4297C>G (p.His1433Asp)
c.3748C>G (p.His1250Asp)
c.3421C>G (p.His1141Asp)
n.577-2527G>C
c.*3622-2527G>C (n.*3622-2527G>C)
c.4135C>G (p.His1379Asp)
c.3259C>G (p.His1087Asp)
c.2608C>G (p.His870Asp)
c.2212C>G (p.His738Asp)
c.1954C>G (p.His652Asp)
c.3232C>G (p.His1078Asp)
10g.75029121C>TCA5565016DUSP29,KAT6Bc.4297C>T (p.His1433Tyr)
c.3748C>T (p.His1250Tyr)
c.3421C>T (p.His1141Tyr)
n.577-2527G>A
c.*3622-2527G>A (n.*3622-2527G>A)
c.4135C>T (p.His1379Tyr)
c.3259C>T (p.His1087Tyr)
c.2608C>T (p.His870Tyr)
c.2212C>T (p.His738Tyr)
c.1954C>T (p.His652Tyr)
c.3232C>T (p.His1078Tyr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
10g.75029121_75029128delinsCACATGGACA1920306615DUSP29,KAT6Bc.4297_4304delinsCACATGGA (p.His1433=)
c.3748_3755delinsCACATGGA (p.His1250=)
c.3421_3428delinsCACATGGA (p.His1141=)
n.577-2534_577-2527delinsTCCATGTG
c.*3622-2534_*3622-2527delinsTCCATGTG (n.*3622-2534_*3622-2527delinsTCCATGTG)
c.4135_4142delinsCACATGGA (p.His1379=)
c.3259_3266delinsCACATGGA (p.His1087=)
c.2608_2615delinsCACATGGA (p.His870=)
c.2212_2219delinsCACATGGA (p.His738=)
c.1954_1961delinsCACATGGA (p.His652=)
c.3232_3239delinsCACATGGA (p.His1078=)
10g.75029122A>CCA377296651DUSP29,KAT6Bc.4298A>C (p.His1433Pro)
c.3749A>C (p.His1250Pro)
c.3422A>C (p.His1141Pro)
n.577-2528T>G
c.*3622-2528T>G (n.*3622-2528T>G)
c.4136A>C (p.His1379Pro)
c.3260A>C (p.His1087Pro)
c.2609A>C (p.His870Pro)
c.2213A>C (p.His738Pro)
c.1955A>C (p.His652Pro)
c.3233A>C (p.His1078Pro)
10g.75029122A>GCA377296652DUSP29,KAT6Bc.4298A>G (p.His1433Arg)
c.3749A>G (p.His1250Arg)
c.3422A>G (p.His1141Arg)
n.577-2528T>C
c.*3622-2528T>C (n.*3622-2528T>C)
c.4136A>G (p.His1379Arg)
c.3260A>G (p.His1087Arg)
c.2609A>G (p.His870Arg)
c.2213A>G (p.His738Arg)
c.1955A>G (p.His652Arg)
c.3233A>G (p.His1078Arg)
10g.75029122A>TCA377296653DUSP29,KAT6Bc.4298A>T (p.His1433Leu)
c.3749A>T (p.His1250Leu)
c.3422A>T (p.His1141Leu)
n.577-2528T>A
c.*3622-2528T>A (n.*3622-2528T>A)
c.4136A>T (p.His1379Leu)
c.3260A>T (p.His1087Leu)
c.2609A>T (p.His870Leu)
c.2213A>T (p.His738Leu)
c.1955A>T (p.His652Leu)
c.3233A>T (p.His1078Leu)
 ClinVar dbSNP
10g.75029122_75029128delinsTCCA915945976DUSP29,KAT6Bc.4298_4304delinsTC (p.His1433LeufsTer29)
c.3749_3755delinsTC (p.His1250LeufsTer29)
c.3422_3428delinsTC (p.His1141LeufsTer29)
n.577-2534_577-2528delinsGA
c.*3622-2534_*3622-2528delinsGA (n.*3622-2534_*3622-2528delinsGA)
c.4136_4142delinsTC (p.His1379LeufsTer29)
c.3260_3266delinsTC (p.His1087LeufsTer29)
c.2609_2615delinsTC (p.His870LeufsTer29)
c.2213_2219delinsTC (p.His738LeufsTer29)
c.1955_1961delinsTC (p.His652LeufsTer29)
c.3233_3239delinsTC (p.His1078LeufsTer29)
 ClinVar dbSNP
10g.75029123C>ACA377296654DUSP29,KAT6Bc.4299C>A (p.His1433Gln)
c.3750C>A (p.His1250Gln)
c.3423C>A (p.His1141Gln)
n.577-2529G>T
c.*3622-2529G>T (n.*3622-2529G>T)
c.4137C>A (p.His1379Gln)
c.3261C>A (p.His1087Gln)
c.2610C>A (p.His870Gln)
c.2214C>A (p.His738Gln)
c.1956C>A (p.His652Gln)
c.3234C>A (p.His1078Gln)
10g.75029123C>GCA377296655DUSP29,KAT6Bc.4299C>G (p.His1433Gln)
c.3750C>G (p.His1250Gln)
c.3423C>G (p.His1141Gln)
n.577-2529G>C
c.*3622-2529G>C (n.*3622-2529G>C)
c.4137C>G (p.His1379Gln)
c.3261C>G (p.His1087Gln)
c.2610C>G (p.His870Gln)
c.2214C>G (p.His738Gln)
c.1956C>G (p.His652Gln)
c.3234C>G (p.His1078Gln)
10g.75029123C>TCA470299988DUSP29,KAT6Bc.4299C>T (p.His1433=)
c.3750C>T (p.His1250=)
c.3423C>T (p.His1141=)
n.577-2529G>A
c.*3622-2529G>A (n.*3622-2529G>A)
c.4137C>T (p.His1379=)
c.3261C>T (p.His1087=)
c.2610C>T (p.His870=)
c.2214C>T (p.His738=)
c.1956C>T (p.His652=)
c.3234C>T (p.His1078=)
 gnomAD v4
10g.75029124A>CCA377296656DUSP29,KAT6Bc.4300A>C (p.Met1434Leu)
c.3751A>C (p.Met1251Leu)
c.3424A>C (p.Met1142Leu)
n.577-2530T>G
c.*3622-2530T>G (n.*3622-2530T>G)
c.4138A>C (p.Met1380Leu)
c.3262A>C (p.Met1088Leu)
c.2611A>C (p.Met871Leu)
c.2215A>C (p.Met739Leu)
c.1957A>C (p.Met653Leu)
c.3235A>C (p.Met1079Leu)
10g.75029124A>GCA377296657DUSP29,KAT6Bc.4300A>G (p.Met1434Val)
c.3751A>G (p.Met1251Val)
c.3424A>G (p.Met1142Val)
n.577-2530T>C
c.*3622-2530T>C (n.*3622-2530T>C)
c.4138A>G (p.Met1380Val)
c.3262A>G (p.Met1088Val)
c.2611A>G (p.Met871Val)
c.2215A>G (p.Met739Val)
c.1957A>G (p.Met653Val)
c.3235A>G (p.Met1079Val)
 gnomAD v4
10g.75029124A>TCA377296658DUSP29,KAT6Bc.4300A>T (p.Met1434Leu)
c.3751A>T (p.Met1251Leu)
c.3424A>T (p.Met1142Leu)
n.577-2530T>A
c.*3622-2530T>A (n.*3622-2530T>A)
c.4138A>T (p.Met1380Leu)
c.3262A>T (p.Met1088Leu)
c.2611A>T (p.Met871Leu)
c.2215A>T (p.Met739Leu)
c.1957A>T (p.Met653Leu)
c.3235A>T (p.Met1079Leu)
10g.75029125T>ACA377296659DUSP29,KAT6Bc.4301T>A (p.Met1434Lys)
c.3752T>A (p.Met1251Lys)
c.3425T>A (p.Met1142Lys)
n.577-2531A>T
c.*3622-2531A>T (n.*3622-2531A>T)
c.4139T>A (p.Met1380Lys)
c.3263T>A (p.Met1088Lys)
c.2612T>A (p.Met871Lys)
c.2216T>A (p.Met739Lys)
c.1958T>A (p.Met653Lys)
c.3236T>A (p.Met1079Lys)
10g.75029125T>CCA5565017DUSP29,KAT6Bc.4301T>C (p.Met1434Thr)
c.3752T>C (p.Met1251Thr)
c.3425T>C (p.Met1142Thr)
n.577-2531A>G
c.*3622-2531A>G (n.*3622-2531A>G)
c.4139T>C (p.Met1380Thr)
c.3263T>C (p.Met1088Thr)
c.2612T>C (p.Met871Thr)
c.2216T>C (p.Met739Thr)
c.1958T>C (p.Met653Thr)
c.3236T>C (p.Met1079Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.75029125T>GCA377296660DUSP29,KAT6Bc.4301T>G (p.Met1434Arg)
c.3752T>G (p.Met1251Arg)
c.3425T>G (p.Met1142Arg)
n.577-2531A>C
c.*3622-2531A>C (n.*3622-2531A>C)
c.4139T>G (p.Met1380Arg)
c.3263T>G (p.Met1088Arg)
c.2612T>G (p.Met871Arg)
c.2216T>G (p.Met739Arg)
c.1958T>G (p.Met653Arg)
c.3236T>G (p.Met1079Arg)
10g.75029125T=CA1920306617DUSP29,KAT6Bc.4301T= (p.Met1434=)
c.3752T= (p.Met1251=)
c.3425T= (p.Met1142=)
n.577-2531A=
c.*3622-2531A= (n.*3622-2531A=)
c.4139T= (p.Met1380=)
c.3263T= (p.Met1088=)
c.2612T= (p.Met871=)
c.2216T= (p.Met739=)
c.1958T= (p.Met653=)
c.3236T= (p.Met1079=)
10g.75029126G>ACA377296662DUSP29,KAT6Bc.4302G>A (p.Met1434Ile)
c.3753G>A (p.Met1251Ile)
c.3426G>A (p.Met1142Ile)
n.577-2532C>T
c.*3622-2532C>T (n.*3622-2532C>T)
c.4140G>A (p.Met1380Ile)
c.3264G>A (p.Met1088Ile)
c.2613G>A (p.Met871Ile)
c.2217G>A (p.Met739Ile)
c.1959G>A (p.Met653Ile)
c.3237G>A (p.Met1079Ile)
10g.75029126G>CCA377296661DUSP29,KAT6Bc.4302G>C (p.Met1434Ile)
c.3753G>C (p.Met1251Ile)
c.3426G>C (p.Met1142Ile)
n.577-2532C>G
c.*3622-2532C>G (n.*3622-2532C>G)
c.4140G>C (p.Met1380Ile)
c.3264G>C (p.Met1088Ile)
c.2613G>C (p.Met871Ile)
c.2217G>C (p.Met739Ile)
c.1959G>C (p.Met653Ile)
c.3237G>C (p.Met1079Ile)
10g.75029126G=CA1920306618DUSP29,KAT6Bc.4302G= (p.Met1434=)
c.3753G= (p.Met1251=)
c.3426G= (p.Met1142=)
n.577-2532C=
c.*3622-2532C= (n.*3622-2532C=)
c.4140G= (p.Met1380=)
c.3264G= (p.Met1088=)
c.2613G= (p.Met871=)
c.2217G= (p.Met739=)
c.1959G= (p.Met653=)
c.3237G= (p.Met1079=)
10g.75029126G>TCA5565018DUSP29,KAT6Bc.4302G>T (p.Met1434Ile)
c.3753G>T (p.Met1251Ile)
c.3426G>T (p.Met1142Ile)
n.577-2532C>A
c.*3622-2532C>A (n.*3622-2532C>A)
c.4140G>T (p.Met1380Ile)
c.3264G>T (p.Met1088Ile)
c.2613G>T (p.Met871Ile)
c.2217G>T (p.Met739Ile)
c.1959G>T (p.Met653Ile)
c.3237G>T (p.Met1079Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.75029127G>ACA377296663DUSP29,KAT6Bc.4303G>A (p.Glu1435Lys)
c.3754G>A (p.Glu1252Lys)
c.3427G>A (p.Glu1143Lys)
n.577-2533C>T
c.*3622-2533C>T (n.*3622-2533C>T)
c.4141G>A (p.Glu1381Lys)
c.3265G>A (p.Glu1089Lys)
c.2614G>A (p.Glu872Lys)
c.2218G>A (p.Glu740Lys)
c.1960G>A (p.Glu654Lys)
c.3238G>A (p.Glu1080Lys)
 gnomAD v4
10g.75029127G>CCA377296664DUSP29,KAT6Bc.4303G>C (p.Glu1435Gln)
c.3754G>C (p.Glu1252Gln)
c.3427G>C (p.Glu1143Gln)
n.577-2533C>G
c.*3622-2533C>G (n.*3622-2533C>G)
c.4141G>C (p.Glu1381Gln)
c.3265G>C (p.Glu1089Gln)
c.2614G>C (p.Glu872Gln)
c.2218G>C (p.Glu740Gln)
c.1960G>C (p.Glu654Gln)
c.3238G>C (p.Glu1080Gln)
10g.75029127G>TCA377296665DUSP29,KAT6Bc.4303G>T (p.Glu1435Ter)
c.3754G>T (p.Glu1252Ter)
c.3427G>T (p.Glu1143Ter)
n.577-2533C>A
c.*3622-2533C>A (n.*3622-2533C>A)
c.4141G>T (p.Glu1381Ter)
c.3265G>T (p.Glu1089Ter)
c.2614G>T (p.Glu872Ter)
c.2218G>T (p.Glu740Ter)
c.1960G>T (p.Glu654Ter)
c.3238G>T (p.Glu1080Ter)
10g.75029128A>CCA377296666DUSP29,KAT6Bc.4304A>C (p.Glu1435Ala)
c.3755A>C (p.Glu1252Ala)
c.3428A>C (p.Glu1143Ala)
n.577-2534T>G
c.*3622-2534T>G (n.*3622-2534T>G)
c.4142A>C (p.Glu1381Ala)
c.3266A>C (p.Glu1089Ala)
c.2615A>C (p.Glu872Ala)
c.2219A>C (p.Glu740Ala)
c.1961A>C (p.Glu654Ala)
c.3239A>C (p.Glu1080Ala)
10g.75029128A>GCA377296667DUSP29,KAT6Bc.4304A>G (p.Glu1435Gly)
c.3755A>G (p.Glu1252Gly)
c.3428A>G (p.Glu1143Gly)
n.577-2534T>C
c.*3622-2534T>C (n.*3622-2534T>C)
c.4142A>G (p.Glu1381Gly)
c.3266A>G (p.Glu1089Gly)
c.2615A>G (p.Glu872Gly)
c.2219A>G (p.Glu740Gly)
c.1961A>G (p.Glu654Gly)
c.3239A>G (p.Glu1080Gly)
10g.75029128A>TCA377296668DUSP29,KAT6Bc.4304A>T (p.Glu1435Val)
c.3755A>T (p.Glu1252Val)
c.3428A>T (p.Glu1143Val)
n.577-2534T>A
c.*3622-2534T>A (n.*3622-2534T>A)
c.4142A>T (p.Glu1381Val)
c.3266A>T (p.Glu1089Val)
c.2615A>T (p.Glu872Val)
c.2219A>T (p.Glu740Val)
c.1961A>T (p.Glu654Val)
c.3239A>T (p.Glu1080Val)
10g.75029129G>ACA470300000DUSP29,KAT6Bc.4305G>A (p.Glu1435=)
c.3756G>A (p.Glu1252=)
c.3429G>A (p.Glu1143=)
n.577-2535C>T
c.*3622-2535C>T (n.*3622-2535C>T)
c.4143G>A (p.Glu1381=)
c.3267G>A (p.Glu1089=)
c.2616G>A (p.Glu872=)
c.2220G>A (p.Glu740=)
c.1962G>A (p.Glu654=)
c.3240G>A (p.Glu1080=)
10g.75029129G>CCA377296669DUSP29,KAT6Bc.4305G>C (p.Glu1435Asp)
c.3756G>C (p.Glu1252Asp)
c.3429G>C (p.Glu1143Asp)
n.577-2535C>G
c.*3622-2535C>G (n.*3622-2535C>G)
c.4143G>C (p.Glu1381Asp)
c.3267G>C (p.Glu1089Asp)
c.2616G>C (p.Glu872Asp)
c.2220G>C (p.Glu740Asp)
c.1962G>C (p.Glu654Asp)
c.3240G>C (p.Glu1080Asp)
10g.75029129G>TCA377296670DUSP29,KAT6Bc.4305G>T (p.Glu1435Asp)
c.3756G>T (p.Glu1252Asp)
c.3429G>T (p.Glu1143Asp)
n.577-2535C>A
c.*3622-2535C>A (n.*3622-2535C>A)
c.4143G>T (p.Glu1381Asp)
c.3267G>T (p.Glu1089Asp)
c.2616G>T (p.Glu872Asp)
c.2220G>T (p.Glu740Asp)
c.1962G>T (p.Glu654Asp)
c.3240G>T (p.Glu1080Asp)
10g.75029130T>ACA377296671DUSP29,KAT6Bc.4306T>A (p.Ser1436Thr)
c.3757T>A (p.Ser1253Thr)
c.3430T>A (p.Ser1144Thr)
n.577-2536A>T
c.*3622-2536A>T (n.*3622-2536A>T)
c.4144T>A (p.Ser1382Thr)
c.3268T>A (p.Ser1090Thr)
c.2617T>A (p.Ser873Thr)
c.2221T>A (p.Ser741Thr)
c.1963T>A (p.Ser655Thr)
c.3241T>A (p.Ser1081Thr)
10g.75029130T>CCA377296672DUSP29,KAT6Bc.4306T>C (p.Ser1436Pro)
c.3757T>C (p.Ser1253Pro)
c.3430T>C (p.Ser1144Pro)
n.577-2536A>G
c.*3622-2536A>G (n.*3622-2536A>G)
c.4144T>C (p.Ser1382Pro)
c.3268T>C (p.Ser1090Pro)
c.2617T>C (p.Ser873Pro)
c.2221T>C (p.Ser741Pro)
c.1963T>C (p.Ser655Pro)
c.3241T>C (p.Ser1081Pro)
10g.75029130T>GCA377296673DUSP29,KAT6Bc.4306T>G (p.Ser1436Ala)
c.3757T>G (p.Ser1253Ala)
c.3430T>G (p.Ser1144Ala)
n.577-2536A>C
c.*3622-2536A>C (n.*3622-2536A>C)
c.4144T>G (p.Ser1382Ala)
c.3268T>G (p.Ser1090Ala)
c.2617T>G (p.Ser873Ala)
c.2221T>G (p.Ser741Ala)
c.1963T>G (p.Ser655Ala)
c.3241T>G (p.Ser1081Ala)
10g.75029131C>ACA377296676DUSP29,KAT6Bc.4307C>A (p.Ser1436Tyr)
c.3758C>A (p.Ser1253Tyr)
c.3431C>A (p.Ser1144Tyr)
n.577-2537G>T
c.*3622-2537G>T (n.*3622-2537G>T)
c.4145C>A (p.Ser1382Tyr)
c.3269C>A (p.Ser1090Tyr)
c.2618C>A (p.Ser873Tyr)
c.2222C>A (p.Ser741Tyr)
c.1964C>A (p.Ser655Tyr)
c.3242C>A (p.Ser1081Tyr)
10g.75029131C>GCA377296675DUSP29,KAT6Bc.4307C>G (p.Ser1436Cys)
c.3758C>G (p.Ser1253Cys)
c.3431C>G (p.Ser1144Cys)
n.577-2537G>C
c.*3622-2537G>C (n.*3622-2537G>C)
c.4145C>G (p.Ser1382Cys)
c.3269C>G (p.Ser1090Cys)
c.2618C>G (p.Ser873Cys)
c.2222C>G (p.Ser741Cys)
c.1964C>G (p.Ser655Cys)
c.3242C>G (p.Ser1081Cys)
10g.75029131C>TCA377296674DUSP29,KAT6Bc.4307C>T (p.Ser1436Phe)
c.3758C>T (p.Ser1253Phe)
c.3431C>T (p.Ser1144Phe)
n.577-2537G>A
c.*3622-2537G>A (n.*3622-2537G>A)
c.4145C>T (p.Ser1382Phe)
c.3269C>T (p.Ser1090Phe)
c.2618C>T (p.Ser873Phe)
c.2222C>T (p.Ser741Phe)
c.1964C>T (p.Ser655Phe)
c.3242C>T (p.Ser1081Phe)
 ClinVar
10g.75029136_75029158delCA2695212205DUSP29,KAT6Bc.4312_4334del (p.Glu1438GlnfsTer18)
c.3763_3785del (p.Glu1255GlnfsTer18)
c.3436_3458del (p.Glu1146GlnfsTer18)
n.577-2559_577-2537del
c.*3622-2559_*3622-2537del (n.*3622-2559_*3622-2537del)
c.4150_4172del (p.Glu1384GlnfsTer18)
c.3274_3296del (p.Glu1092GlnfsTer18)
c.2623_2645del (p.Glu875GlnfsTer18)
c.2227_2249del (p.Glu743GlnfsTer18)
c.1969_1991del (p.Glu657GlnfsTer18)
c.3247_3269del (p.Glu1083GlnfsTer18)
10g.75029132T>ACA470300006DUSP29,KAT6Bc.4308T>A (p.Ser1436=)
c.3759T>A (p.Ser1253=)
c.3432T>A (p.Ser1144=)
n.577-2538A>T
c.*3622-2538A>T (n.*3622-2538A>T)
c.4146T>A (p.Ser1382=)
c.3270T>A (p.Ser1090=)
c.2619T>A (p.Ser873=)
c.2223T>A (p.Ser741=)
c.1965T>A (p.Ser655=)
c.3243T>A (p.Ser1081=)
10g.75029132T>CCA470300008DUSP29,KAT6Bc.4308T>C (p.Ser1436=)
c.3759T>C (p.Ser1253=)
c.3432T>C (p.Ser1144=)
n.577-2538A>G
c.*3622-2538A>G (n.*3622-2538A>G)
c.4146T>C (p.Ser1382=)
c.3270T>C (p.Ser1090=)
c.2619T>C (p.Ser873=)
c.2223T>C (p.Ser741=)
c.1965T>C (p.Ser655=)
c.3243T>C (p.Ser1081=)
10g.75029132T>GCA470300010DUSP29,KAT6Bc.4308T>G (p.Ser1436=)
c.3759T>G (p.Ser1253=)
c.3432T>G (p.Ser1144=)
n.577-2538A>C
c.*3622-2538A>C (n.*3622-2538A>C)
c.4146T>G (p.Ser1382=)
c.3270T>G (p.Ser1090=)
c.2619T>G (p.Ser873=)
c.2223T>G (p.Ser741=)
c.1965T>G (p.Ser655=)
c.3243T>G (p.Ser1081=)
10g.75029133G>ACA377296677DUSP29,KAT6Bc.4309G>A (p.Ala1437Thr)
c.3760G>A (p.Ala1254Thr)
c.3433G>A (p.Ala1145Thr)
n.577-2539C>T
c.*3622-2539C>T (n.*3622-2539C>T)
c.4147G>A (p.Ala1383Thr)
c.3271G>A (p.Ala1091Thr)
c.2620G>A (p.Ala874Thr)
c.2224G>A (p.Ala742Thr)
c.1966G>A (p.Ala656Thr)
c.3244G>A (p.Ala1082Thr)
10g.75029133G>CCA377296679DUSP29,KAT6Bc.4309G>C (p.Ala1437Pro)
c.3760G>C (p.Ala1254Pro)
c.3433G>C (p.Ala1145Pro)
n.577-2539C>G
c.*3622-2539C>G (n.*3622-2539C>G)
c.4147G>C (p.Ala1383Pro)
c.3271G>C (p.Ala1091Pro)
c.2620G>C (p.Ala874Pro)
c.2224G>C (p.Ala742Pro)
c.1966G>C (p.Ala656Pro)
c.3244G>C (p.Ala1082Pro)
 gnomAD v4
10g.75029133G>TCA377296678DUSP29,KAT6Bc.4309G>T (p.Ala1437Ser)
c.3760G>T (p.Ala1254Ser)
c.3433G>T (p.Ala1145Ser)
n.577-2539C>A
c.*3622-2539C>A (n.*3622-2539C>A)
c.4147G>T (p.Ala1383Ser)
c.3271G>T (p.Ala1091Ser)
c.2620G>T (p.Ala874Ser)
c.2224G>T (p.Ala742Ser)
c.1966G>T (p.Ala656Ser)
c.3244G>T (p.Ala1082Ser)
10g.75029134C>ACA377296680DUSP29,KAT6Bc.4310C>A (p.Ala1437Asp)
c.3761C>A (p.Ala1254Asp)
c.3434C>A (p.Ala1145Asp)
n.577-2540G>T
c.*3622-2540G>T (n.*3622-2540G>T)
c.4148C>A (p.Ala1383Asp)
c.3272C>A (p.Ala1091Asp)
c.2621C>A (p.Ala874Asp)
c.2225C>A (p.Ala742Asp)
c.1967C>A (p.Ala656Asp)
c.3245C>A (p.Ala1082Asp)
10g.75029134C>GCA377296681DUSP29,KAT6Bc.4310C>G (p.Ala1437Gly)
c.3761C>G (p.Ala1254Gly)
c.3434C>G (p.Ala1145Gly)
n.577-2540G>C
c.*3622-2540G>C (n.*3622-2540G>C)
c.4148C>G (p.Ala1383Gly)
c.3272C>G (p.Ala1091Gly)
c.2621C>G (p.Ala874Gly)
c.2225C>G (p.Ala742Gly)
c.1967C>G (p.Ala656Gly)
c.3245C>G (p.Ala1082Gly)
10g.75029134C>TCA377296682DUSP29,KAT6Bc.4310C>T (p.Ala1437Val)
c.3761C>T (p.Ala1254Val)
c.3434C>T (p.Ala1145Val)
n.577-2540G>A
c.*3622-2540G>A (n.*3622-2540G>A)
c.4148C>T (p.Ala1383Val)
c.3272C>T (p.Ala1091Val)
c.2621C>T (p.Ala874Val)
c.2225C>T (p.Ala742Val)
c.1967C>T (p.Ala656Val)
c.3245C>T (p.Ala1082Val)
10g.75029135C>ACA470300015DUSP29,KAT6Bc.4311C>A (p.Ala1437=)
c.3762C>A (p.Ala1254=)
c.3435C>A (p.Ala1145=)
n.577-2541G>T
c.*3622-2541G>T (n.*3622-2541G>T)
c.4149C>A (p.Ala1383=)
c.3273C>A (p.Ala1091=)
c.2622C>A (p.Ala874=)
c.2226C>A (p.Ala742=)
c.1968C>A (p.Ala656=)
c.3246C>A (p.Ala1082=)
 COSMIC
10g.75029135C=CA1920306619DUSP29,KAT6Bc.4311C= (p.Ala1437=)
c.3762C= (p.Ala1254=)
c.3435C= (p.Ala1145=)
n.577-2541G=
c.*3622-2541G= (n.*3622-2541G=)
c.4149C= (p.Ala1383=)
c.3273C= (p.Ala1091=)
c.2622C= (p.Ala874=)
c.2226C= (p.Ala742=)
c.1968C= (p.Ala656=)
c.3246C= (p.Ala1082=)
10g.75029135C>GCA470300017DUSP29,KAT6Bc.4311C>G (p.Ala1437=)
c.3762C>G (p.Ala1254=)
c.3435C>G (p.Ala1145=)
n.577-2541G>C
c.*3622-2541G>C (n.*3622-2541G>C)
c.4149C>G (p.Ala1383=)
c.3273C>G (p.Ala1091=)
c.2622C>G (p.Ala874=)
c.2226C>G (p.Ala742=)
c.1968C>G (p.Ala656=)
c.3246C>G (p.Ala1082=)
10g.75029135C>TCA209709775DUSP29,KAT6Bc.4311C>T (p.Ala1437=)
c.3762C>T (p.Ala1254=)
c.3435C>T (p.Ala1145=)
n.577-2541G>A
c.*3622-2541G>A (n.*3622-2541G>A)
c.4149C>T (p.Ala1383=)
c.3273C>T (p.Ala1091=)
c.2622C>T (p.Ala874=)
c.2226C>T (p.Ala742=)
c.1968C>T (p.Ala656=)
c.3246C>T (p.Ala1082=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.75029136delCA2695212206DUSP29,KAT6Bc.4312del (p.Glu1438LysfsTer23)
c.3763del (p.Glu1255LysfsTer23)
c.3436del (p.Glu1146LysfsTer23)
n.577-2542del
c.*3622-2542del (n.*3622-2542del)
c.4150del (p.Glu1384LysfsTer23)
c.3274del (p.Glu1092LysfsTer23)
c.2623del (p.Glu875LysfsTer23)
c.2227del (p.Glu743LysfsTer23)
c.1969del (p.Glu657LysfsTer23)
c.3247del (p.Glu1083LysfsTer23)
10g.75029136G>ACA5565019DUSP29,KAT6Bc.4312G>A (p.Glu1438Lys)
c.3763G>A (p.Glu1255Lys)
c.3436G>A (p.Glu1146Lys)
n.577-2542C>T
c.*3622-2542C>T (n.*3622-2542C>T)
c.4150G>A (p.Glu1384Lys)
c.3274G>A (p.Glu1092Lys)
c.2623G>A (p.Glu875Lys)
c.2227G>A (p.Glu743Lys)
c.1969G>A (p.Glu657Lys)
c.3247G>A (p.Glu1083Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.75029136G>CCA377296683DUSP29,KAT6Bc.4312G>C (p.Glu1438Gln)
c.3763G>C (p.Glu1255Gln)
c.3436G>C (p.Glu1146Gln)
n.577-2542C>G
c.*3622-2542C>G (n.*3622-2542C>G)
c.4150G>C (p.Glu1384Gln)
c.3274G>C (p.Glu1092Gln)
c.2623G>C (p.Glu875Gln)
c.2227G>C (p.Glu743Gln)
c.1969G>C (p.Glu657Gln)
c.3247G>C (p.Glu1083Gln)
10g.75029136G=CA1920306620DUSP29,KAT6Bc.4312G= (p.Glu1438=)
c.3763G= (p.Glu1255=)
c.3436G= (p.Glu1146=)
n.577-2542C=
c.*3622-2542C= (n.*3622-2542C=)
c.4150G= (p.Glu1384=)
c.3274G= (p.Glu1092=)
c.2623G= (p.Glu875=)
c.2227G= (p.Glu743=)
c.1969G= (p.Glu657=)
c.3247G= (p.Glu1083=)
10g.75029136G>TCA377296684DUSP29,KAT6Bc.4312G>T (p.Glu1438Ter)
c.3763G>T (p.Glu1255Ter)
c.3436G>T (p.Glu1146Ter)
n.577-2542C>A
c.*3622-2542C>A (n.*3622-2542C>A)
c.4150G>T (p.Glu1384Ter)
c.3274G>T (p.Glu1092Ter)
c.2623G>T (p.Glu875Ter)
c.2227G>T (p.Glu743Ter)
c.1969G>T (p.Glu657Ter)
c.3247G>T (p.Glu1083Ter)
10g.75029137A>CCA377296687DUSP29,KAT6Bc.4313A>C (p.Glu1438Ala)
c.3764A>C (p.Glu1255Ala)
c.3437A>C (p.Glu1146Ala)
n.577-2543T>G
c.*3622-2543T>G (n.*3622-2543T>G)
c.4151A>C (p.Glu1384Ala)
c.3275A>C (p.Glu1092Ala)
c.2624A>C (p.Glu875Ala)
c.2228A>C (p.Glu743Ala)
c.1970A>C (p.Glu657Ala)
c.3248A>C (p.Glu1083Ala)
10g.75029137A>GCA377296685DUSP29,KAT6Bc.4313A>G (p.Glu1438Gly)
c.3764A>G (p.Glu1255Gly)
c.3437A>G (p.Glu1146Gly)
n.577-2543T>C
c.*3622-2543T>C (n.*3622-2543T>C)
c.4151A>G (p.Glu1384Gly)
c.3275A>G (p.Glu1092Gly)
c.2624A>G (p.Glu875Gly)
c.2228A>G (p.Glu743Gly)
c.1970A>G (p.Glu657Gly)
c.3248A>G (p.Glu1083Gly)
10g.75029137A>TCA377296686DUSP29,KAT6Bc.4313A>T (p.Glu1438Val)
c.3764A>T (p.Glu1255Val)
c.3437A>T (p.Glu1146Val)
n.577-2543T>A
c.*3622-2543T>A (n.*3622-2543T>A)
c.4151A>T (p.Glu1384Val)
c.3275A>T (p.Glu1092Val)
c.2624A>T (p.Glu875Val)
c.2228A>T (p.Glu743Val)
c.1970A>T (p.Glu657Val)
c.3248A>T (p.Glu1083Val)
 gnomAD v4
10g.75029138A>CCA377296688DUSP29,KAT6Bc.4314A>C (p.Glu1438Asp)
c.3765A>C (p.Glu1255Asp)
c.3438A>C (p.Glu1146Asp)
n.577-2544T>G
c.*3622-2544T>G (n.*3622-2544T>G)
c.4152A>C (p.Glu1384Asp)
c.3276A>C (p.Glu1092Asp)
c.2625A>C (p.Glu875Asp)
c.2229A>C (p.Glu743Asp)
c.1971A>C (p.Glu657Asp)
c.3249A>C (p.Glu1083Asp)
10g.75029138A>GCA470300023DUSP29,KAT6Bc.4314A>G (p.Glu1438=)
c.3765A>G (p.Glu1255=)
c.3438A>G (p.Glu1146=)
n.577-2544T>C
c.*3622-2544T>C (n.*3622-2544T>C)
c.4152A>G (p.Glu1384=)
c.3276A>G (p.Glu1092=)
c.2625A>G (p.Glu875=)
c.2229A>G (p.Glu743=)
c.1971A>G (p.Glu657=)
c.3249A>G (p.Glu1083=)
 gnomAD v4
10g.75029138A>TCA377296689DUSP29,KAT6Bc.4314A>T (p.Glu1438Asp)
c.3765A>T (p.Glu1255Asp)
c.3438A>T (p.Glu1146Asp)
n.577-2544T>A
c.*3622-2544T>A (n.*3622-2544T>A)
c.4152A>T (p.Glu1384Asp)
c.3276A>T (p.Glu1092Asp)
c.2625A>T (p.Glu875Asp)
c.2229A>T (p.Glu743Asp)
c.1971A>T (p.Glu657Asp)
c.3249A>T (p.Glu1083Asp)
10g.75029139G>ACA377296690DUSP29,KAT6Bc.4315G>A (p.Val1439Met)
c.3766G>A (p.Val1256Met)
c.3439G>A (p.Val1147Met)
n.577-2545C>T
c.*3622-2545C>T (n.*3622-2545C>T)
c.4153G>A (p.Val1385Met)
c.3277G>A (p.Val1093Met)
c.2626G>A (p.Val876Met)
c.2230G>A (p.Val744Met)
c.1972G>A (p.Val658Met)
c.3250G>A (p.Val1084Met)
10g.75029139G>CCA377296691DUSP29,KAT6Bc.4315G>C (p.Val1439Leu)
c.3766G>C (p.Val1256Leu)
c.3439G>C (p.Val1147Leu)
n.577-2545C>G
c.*3622-2545C>G (n.*3622-2545C>G)
c.4153G>C (p.Val1385Leu)
c.3277G>C (p.Val1093Leu)
c.2626G>C (p.Val876Leu)
c.2230G>C (p.Val744Leu)
c.1972G>C (p.Val658Leu)
c.3250G>C (p.Val1084Leu)
 gnomAD v4
10g.75029139G>TCA377296692DUSP29,KAT6Bc.4315G>T (p.Val1439Leu)
c.3766G>T (p.Val1256Leu)
c.3439G>T (p.Val1147Leu)
n.577-2545C>A
c.*3622-2545C>A (n.*3622-2545C>A)
c.4153G>T (p.Val1385Leu)
c.3277G>T (p.Val1093Leu)
c.2626G>T (p.Val876Leu)
c.2230G>T (p.Val744Leu)
c.1972G>T (p.Val658Leu)
c.3250G>T (p.Val1084Leu)
10g.75029140T>ACA377296693DUSP29,KAT6Bc.4316T>A (p.Val1439Glu)
c.3767T>A (p.Val1256Glu)
c.3440T>A (p.Val1147Glu)
n.577-2546A>T
c.*3622-2546A>T (n.*3622-2546A>T)
c.4154T>A (p.Val1385Glu)
c.3278T>A (p.Val1093Glu)
c.2627T>A (p.Val876Glu)
c.2231T>A (p.Val744Glu)
c.1973T>A (p.Val658Glu)
c.3251T>A (p.Val1084Glu)
10g.75029140T>CCA377296695DUSP29,KAT6Bc.4316T>C (p.Val1439Ala)
c.3767T>C (p.Val1256Ala)
c.3440T>C (p.Val1147Ala)
n.577-2546A>G
c.*3622-2546A>G (n.*3622-2546A>G)
c.4154T>C (p.Val1385Ala)
c.3278T>C (p.Val1093Ala)
c.2627T>C (p.Val876Ala)
c.2231T>C (p.Val744Ala)
c.1973T>C (p.Val658Ala)
c.3251T>C (p.Val1084Ala)
10g.75029140T>GCA377296694DUSP29,KAT6Bc.4316T>G (p.Val1439Gly)
c.3767T>G (p.Val1256Gly)
c.3440T>G (p.Val1147Gly)
n.577-2546A>C
c.*3622-2546A>C (n.*3622-2546A>C)
c.4154T>G (p.Val1385Gly)
c.3278T>G (p.Val1093Gly)
c.2627T>G (p.Val876Gly)
c.2231T>G (p.Val744Gly)
c.1973T>G (p.Val658Gly)
c.3251T>G (p.Val1084Gly)
10g.75029141G>ACA470300030DUSP29,KAT6Bc.4317G>A (p.Val1439=)
c.3768G>A (p.Val1256=)
c.3441G>A (p.Val1147=)
n.577-2547C>T
c.*3622-2547C>T (n.*3622-2547C>T)
c.4155G>A (p.Val1385=)
c.3279G>A (p.Val1093=)
c.2628G>A (p.Val876=)
c.2232G>A (p.Val744=)
c.1974G>A (p.Val658=)
c.3252G>A (p.Val1084=)
 gnomAD v4
10g.75029141G>CCA470300033DUSP29,KAT6Bc.4317G>C (p.Val1439=)
c.3768G>C (p.Val1256=)
c.3441G>C (p.Val1147=)
n.577-2547C>G
c.*3622-2547C>G (n.*3622-2547C>G)
c.4155G>C (p.Val1385=)
c.3279G>C (p.Val1093=)
c.2628G>C (p.Val876=)
c.2232G>C (p.Val744=)
c.1974G>C (p.Val658=)
c.3252G>C (p.Val1084=)
10g.75029141G>TCA470300034DUSP29,KAT6Bc.4317G>T (p.Val1439=)
c.3768G>T (p.Val1256=)
c.3441G>T (p.Val1147=)
n.577-2547C>A
c.*3622-2547C>A (n.*3622-2547C>A)
c.4155G>T (p.Val1385=)
c.3279G>T (p.Val1093=)
c.2628G>T (p.Val876=)
c.2232G>T (p.Val744=)
c.1974G>T (p.Val658=)
c.3252G>T (p.Val1084=)
10g.75029142G>ACA377296696DUSP29,KAT6Bc.4318G>A (p.Glu1440Lys)
c.3769G>A (p.Glu1257Lys)
c.3442G>A (p.Glu1148Lys)
n.577-2548C>T
c.*3622-2548C>T (n.*3622-2548C>T)
c.4156G>A (p.Glu1386Lys)
c.3280G>A (p.Glu1094Lys)
c.2629G>A (p.Glu877Lys)
c.2233G>A (p.Glu745Lys)
c.1975G>A (p.Glu659Lys)
c.3253G>A (p.Glu1085Lys)
10g.75029142G>CCA377296697DUSP29,KAT6Bc.4318G>C (p.Glu1440Gln)
c.3769G>C (p.Glu1257Gln)
c.3442G>C (p.Glu1148Gln)
n.577-2548C>G
c.*3622-2548C>G (n.*3622-2548C>G)
c.4156G>C (p.Glu1386Gln)
c.3280G>C (p.Glu1094Gln)
c.2629G>C (p.Glu877Gln)
c.2233G>C (p.Glu745Gln)
c.1975G>C (p.Glu659Gln)
c.3253G>C (p.Glu1085Gln)
10g.75029142G>TCA377296698DUSP29,KAT6Bc.4318G>T (p.Glu1440Ter)
c.3769G>T (p.Glu1257Ter)
c.3442G>T (p.Glu1148Ter)
n.577-2548C>A
c.*3622-2548C>A (n.*3622-2548C>A)
c.4156G>T (p.Glu1386Ter)
c.3280G>T (p.Glu1094Ter)
c.2629G>T (p.Glu877Ter)
c.2233G>T (p.Glu745Ter)
c.1975G>T (p.Glu659Ter)
c.3253G>T (p.Glu1085Ter)
10g.75029144_75029145delCA2695212207DUSP29,KAT6Bc.4320_4321del (p.Lys1441GlyfsTer22)
c.3771_3772del (p.Lys1258GlyfsTer22)
c.3444_3445del (p.Lys1149GlyfsTer22)
n.577-2549_577-2548del
c.*3622-2549_*3622-2548del (n.*3622-2549_*3622-2548del)
c.4158_4159del (p.Lys1387GlyfsTer22)
c.3282_3283del (p.Lys1095GlyfsTer22)
c.2631_2632del (p.Lys878GlyfsTer22)
c.2235_2236del (p.Lys746GlyfsTer22)
c.1977_1978del (p.Lys660GlyfsTer22)
c.3255_3256del (p.Lys1086GlyfsTer22)
10g.75029143A>CCA377296699DUSP29,KAT6Bc.4319A>C (p.Glu1440Ala)
c.3770A>C (p.Glu1257Ala)
c.3443A>C (p.Glu1148Ala)
n.577-2549T>G
c.*3622-2549T>G (n.*3622-2549T>G)
c.4157A>C (p.Glu1386Ala)
c.3281A>C (p.Glu1094Ala)
c.2630A>C (p.Glu877Ala)
c.2234A>C (p.Glu745Ala)
c.1976A>C (p.Glu659Ala)
c.3254A>C (p.Glu1085Ala)
10g.75029143A>GCA377296700DUSP29,KAT6Bc.4319A>G (p.Glu1440Gly)
c.3770A>G (p.Glu1257Gly)
c.3443A>G (p.Glu1148Gly)
n.577-2549T>C
c.*3622-2549T>C (n.*3622-2549T>C)
c.4157A>G (p.Glu1386Gly)
c.3281A>G (p.Glu1094Gly)
c.2630A>G (p.Glu877Gly)
c.2234A>G (p.Glu745Gly)
c.1976A>G (p.Glu659Gly)
c.3254A>G (p.Glu1085Gly)
10g.75029143A>TCA377296701DUSP29,KAT6Bc.4319A>T (p.Glu1440Val)
c.3770A>T (p.Glu1257Val)
c.3443A>T (p.Glu1148Val)
n.577-2549T>A
c.*3622-2549T>A (n.*3622-2549T>A)
c.4157A>T (p.Glu1386Val)
c.3281A>T (p.Glu1094Val)
c.2630A>T (p.Glu877Val)
c.2234A>T (p.Glu745Val)
c.1976A>T (p.Glu659Val)
c.3254A>T (p.Glu1085Val)
10g.75029144G>ACA470300222DUSP29,KAT6Bc.4320G>A (p.Glu1440=)
c.3771G>A (p.Glu1257=)
c.3444G>A (p.Glu1148=)
n.577-2550C>T
c.*3622-2550C>T (n.*3622-2550C>T)
c.4158G>A (p.Glu1386=)
c.3282G>A (p.Glu1094=)
c.2631G>A (p.Glu877=)
c.2235G>A (p.Glu745=)
c.1977G>A (p.Glu659=)
c.3255G>A (p.Glu1085=)
 gnomAD v4
10g.75029144G>CCA377296702DUSP29,KAT6Bc.4320G>C (p.Glu1440Asp)
c.3771G>C (p.Glu1257Asp)
c.3444G>C (p.Glu1148Asp)
n.577-2550C>G
c.*3622-2550C>G (n.*3622-2550C>G)
c.4158G>C (p.Glu1386Asp)
c.3282G>C (p.Glu1094Asp)
c.2631G>C (p.Glu877Asp)
c.2235G>C (p.Glu745Asp)
c.1977G>C (p.Glu659Asp)
c.3255G>C (p.Glu1085Asp)
10g.75029144G>TCA377296703DUSP29,KAT6Bc.4320G>T (p.Glu1440Asp)
c.3771G>T (p.Glu1257Asp)
c.3444G>T (p.Glu1148Asp)
n.577-2550C>A
c.*3622-2550C>A (n.*3622-2550C>A)
c.4158G>T (p.Glu1386Asp)
c.3282G>T (p.Glu1094Asp)
c.2631G>T (p.Glu877Asp)
c.2235G>T (p.Glu745Asp)
c.1977G>T (p.Glu659Asp)
c.3255G>T (p.Glu1085Asp)
10g.75029145A>CCA377296704DUSP29,KAT6Bc.4321A>C (p.Lys1441Gln)
c.3772A>C (p.Lys1258Gln)
c.3445A>C (p.Lys1149Gln)
n.577-2551T>G
c.*3622-2551T>G (n.*3622-2551T>G)
c.4159A>C (p.Lys1387Gln)
c.3283A>C (p.Lys1095Gln)
c.2632A>C (p.Lys878Gln)
c.2236A>C (p.Lys746Gln)
c.1978A>C (p.Lys660Gln)
c.3256A>C (p.Lys1086Gln)
10g.75029145A>GCA377296705DUSP29,KAT6Bc.4321A>G (p.Lys1441Glu)
c.3772A>G (p.Lys1258Glu)
c.3445A>G (p.Lys1149Glu)
n.577-2551T>C
c.*3622-2551T>C (n.*3622-2551T>C)
c.4159A>G (p.Lys1387Glu)
c.3283A>G (p.Lys1095Glu)
c.2632A>G (p.Lys878Glu)
c.2236A>G (p.Lys746Glu)
c.1978A>G (p.Lys660Glu)
c.3256A>G (p.Lys1086Glu)
 gnomAD v4
10g.75029145A>TCA377296706DUSP29,KAT6Bc.4321A>T (p.Lys1441Ter)
c.3772A>T (p.Lys1258Ter)
c.3445A>T (p.Lys1149Ter)
n.577-2551T>A
c.*3622-2551T>A (n.*3622-2551T>A)
c.4159A>T (p.Lys1387Ter)
c.3283A>T (p.Lys1095Ter)
c.2632A>T (p.Lys878Ter)
c.2236A>T (p.Lys746Ter)
c.1978A>T (p.Lys660Ter)
c.3256A>T (p.Lys1086Ter)
10g.75029146dupCA2739291350DUSP29,KAT6Bc.4322dup (p.Glu1442GlyfsTer22)
c.3773dup (p.Glu1259GlyfsTer22)
c.3446dup (p.Glu1150GlyfsTer22)
n.577-2551dup
c.*3622-2551dup (n.*3622-2551dup)
c.4160dup (p.Glu1388GlyfsTer22)
c.3284dup (p.Glu1096GlyfsTer22)
c.2633dup (p.Glu879GlyfsTer22)
c.2237dup (p.Glu747GlyfsTer22)
c.1979dup (p.Glu661GlyfsTer22)
c.3257dup (p.Glu1087GlyfsTer22)
10g.75029146A>CCA377296707DUSP29,KAT6Bc.4322A>C (p.Lys1441Thr)
c.3773A>C (p.Lys1258Thr)
c.3446A>C (p.Lys1149Thr)
n.577-2552T>G
c.*3622-2552T>G (n.*3622-2552T>G)
c.4160A>C (p.Lys1387Thr)
c.3284A>C (p.Lys1095Thr)
c.2633A>C (p.Lys878Thr)
c.2237A>C (p.Lys746Thr)
c.1979A>C (p.Lys660Thr)
c.3257A>C (p.Lys1086Thr)
10g.75029146A>GCA377296709DUSP29,KAT6Bc.4322A>G (p.Lys1441Arg)
c.3773A>G (p.Lys1258Arg)
c.3446A>G (p.Lys1149Arg)
n.577-2552T>C
c.*3622-2552T>C (n.*3622-2552T>C)
c.4160A>G (p.Lys1387Arg)
c.3284A>G (p.Lys1095Arg)
c.2633A>G (p.Lys878Arg)
c.2237A>G (p.Lys746Arg)
c.1979A>G (p.Lys660Arg)
c.3257A>G (p.Lys1086Arg)
10g.75029146A>TCA377296708DUSP29,KAT6Bc.4322A>T (p.Lys1441Met)
c.3773A>T (p.Lys1258Met)
c.3446A>T (p.Lys1149Met)
n.577-2552T>A
c.*3622-2552T>A (n.*3622-2552T>A)
c.4160A>T (p.Lys1387Met)
c.3284A>T (p.Lys1095Met)
c.2633A>T (p.Lys878Met)
c.2237A>T (p.Lys746Met)
c.1979A>T (p.Lys660Met)
c.3257A>T (p.Lys1086Met)
10g.75029147G>ACA470300230DUSP29,KAT6Bc.4323G>A (p.Lys1441=)
c.3774G>A (p.Lys1258=)
c.3447G>A (p.Lys1149=)
n.577-2553C>T
c.*3622-2553C>T (n.*3622-2553C>T)
c.4161G>A (p.Lys1387=)
c.3285G>A (p.Lys1095=)
c.2634G>A (p.Lys878=)
c.2238G>A (p.Lys746=)
c.1980G>A (p.Lys660=)
c.3258G>A (p.Lys1086=)
10g.75029147G>CCA377296710DUSP29,KAT6Bc.4323G>C (p.Lys1441Asn)
c.3774G>C (p.Lys1258Asn)
c.3447G>C (p.Lys1149Asn)
n.577-2553C>G
c.*3622-2553C>G (n.*3622-2553C>G)
c.4161G>C (p.Lys1387Asn)
c.3285G>C (p.Lys1095Asn)
c.2634G>C (p.Lys878Asn)
c.2238G>C (p.Lys746Asn)
c.1980G>C (p.Lys660Asn)
c.3258G>C (p.Lys1086Asn)
10g.75029147G>TCA377296711DUSP29,KAT6Bc.4323G>T (p.Lys1441Asn)
c.3774G>T (p.Lys1258Asn)
c.3447G>T (p.Lys1149Asn)
n.577-2553C>A
c.*3622-2553C>A (n.*3622-2553C>A)
c.4161G>T (p.Lys1387Asn)
c.3285G>T (p.Lys1095Asn)
c.2634G>T (p.Lys878Asn)
c.2238G>T (p.Lys746Asn)
c.1980G>T (p.Lys660Asn)
c.3258G>T (p.Lys1086Asn)
10g.75029148G>ACA377296712DUSP29,KAT6Bc.4324G>A (p.Glu1442Lys)
c.3775G>A (p.Glu1259Lys)
c.3448G>A (p.Glu1150Lys)
n.577-2554C>T
c.*3622-2554C>T (n.*3622-2554C>T)
c.4162G>A (p.Glu1388Lys)
c.3286G>A (p.Glu1096Lys)
c.2635G>A (p.Glu879Lys)
c.2239G>A (p.Glu747Lys)
c.1981G>A (p.Glu661Lys)
c.3259G>A (p.Glu1087Lys)
10g.75029148G>CCA377296713DUSP29,KAT6Bc.4324G>C (p.Glu1442Gln)
c.3775G>C (p.Glu1259Gln)
c.3448G>C (p.Glu1150Gln)
n.577-2554C>G
c.*3622-2554C>G (n.*3622-2554C>G)
c.4162G>C (p.Glu1388Gln)
c.3286G>C (p.Glu1096Gln)
c.2635G>C (p.Glu879Gln)
c.2239G>C (p.Glu747Gln)
c.1981G>C (p.Glu661Gln)
c.3259G>C (p.Glu1087Gln)
10g.75029148G>TCA377296714DUSP29,KAT6Bc.4324G>T (p.Glu1442Ter)
c.3775G>T (p.Glu1259Ter)
c.3448G>T (p.Glu1150Ter)
n.577-2554C>A
c.*3622-2554C>A (n.*3622-2554C>A)
c.4162G>T (p.Glu1388Ter)
c.3286G>T (p.Glu1096Ter)
c.2635G>T (p.Glu879Ter)
c.2239G>T (p.Glu747Ter)
c.1981G>T (p.Glu661Ter)
c.3259G>T (p.Glu1087Ter)
10g.75029149A>CCA377296715DUSP29,KAT6Bc.4325A>C (p.Glu1442Ala)
c.3776A>C (p.Glu1259Ala)
c.3449A>C (p.Glu1150Ala)
n.577-2555T>G
c.*3622-2555T>G (n.*3622-2555T>G)
c.4163A>C (p.Glu1388Ala)
c.3287A>C (p.Glu1096Ala)
c.2636A>C (p.Glu879Ala)
c.2240A>C (p.Glu747Ala)
c.1982A>C (p.Glu661Ala)
c.3260A>C (p.Glu1087Ala)
10g.75029149A>GCA377296716DUSP29,KAT6Bc.4325A>G (p.Glu1442Gly)
c.3776A>G (p.Glu1259Gly)
c.3449A>G (p.Glu1150Gly)
n.577-2555T>C
c.*3622-2555T>C (n.*3622-2555T>C)
c.4163A>G (p.Glu1388Gly)
c.3287A>G (p.Glu1096Gly)
c.2636A>G (p.Glu879Gly)
c.2240A>G (p.Glu747Gly)
c.1982A>G (p.Glu661Gly)
c.3260A>G (p.Glu1087Gly)
10g.75029149A>TCA377296717DUSP29,KAT6Bc.4325A>T (p.Glu1442Val)
c.3776A>T (p.Glu1259Val)
c.3449A>T (p.Glu1150Val)
n.577-2555T>A
c.*3622-2555T>A (n.*3622-2555T>A)
c.4163A>T (p.Glu1388Val)
c.3287A>T (p.Glu1096Val)
c.2636A>T (p.Glu879Val)
c.2240A>T (p.Glu747Val)
c.1982A>T (p.Glu661Val)
c.3260A>T (p.Glu1087Val)
10g.75029150A>CCA377296718DUSP29,KAT6Bc.4326A>C (p.Glu1442Asp)
c.3777A>C (p.Glu1259Asp)
c.3450A>C (p.Glu1150Asp)
n.577-2556T>G
c.*3622-2556T>G (n.*3622-2556T>G)
c.4164A>C (p.Glu1388Asp)
c.3288A>C (p.Glu1096Asp)
c.2637A>C (p.Glu879Asp)
c.2241A>C (p.Glu747Asp)
c.1983A>C (p.Glu661Asp)
c.3261A>C (p.Glu1087Asp)
10g.75029150A>GCA470300235DUSP29,KAT6Bc.4326A>G (p.Glu1442=)
c.3777A>G (p.Glu1259=)
c.3450A>G (p.Glu1150=)
n.577-2556T>C
c.*3622-2556T>C (n.*3622-2556T>C)
c.4164A>G (p.Glu1388=)
c.3288A>G (p.Glu1096=)
c.2637A>G (p.Glu879=)
c.2241A>G (p.Glu747=)
c.1983A>G (p.Glu661=)
c.3261A>G (p.Glu1087=)
10g.75029150A>TCA377296719DUSP29,KAT6Bc.4326A>T (p.Glu1442Asp)
c.3777A>T (p.Glu1259Asp)
c.3450A>T (p.Glu1150Asp)
n.577-2556T>A
c.*3622-2556T>A (n.*3622-2556T>A)
c.4164A>T (p.Glu1388Asp)
c.3288A>T (p.Glu1096Asp)
c.2637A>T (p.Glu879Asp)
c.2241A>T (p.Glu747Asp)
c.1983A>T (p.Glu661Asp)
c.3261A>T (p.Glu1087Asp)
10g.75029151G>ACA377296720DUSP29,KAT6Bc.4327G>A (p.Glu1443Lys)
c.3778G>A (p.Glu1260Lys)
c.3451G>A (p.Glu1151Lys)
n.577-2557C>T
c.*3622-2557C>T (n.*3622-2557C>T)
c.4165G>A (p.Glu1389Lys)
c.3289G>A (p.Glu1097Lys)
c.2638G>A (p.Glu880Lys)
c.2242G>A (p.Glu748Lys)
c.1984G>A (p.Glu662Lys)
c.3262G>A (p.Glu1088Lys)
 gnomAD v4
10g.75029151G>CCA377296721DUSP29,KAT6Bc.4327G>C (p.Glu1443Gln)
c.3778G>C (p.Glu1260Gln)
c.3451G>C (p.Glu1151Gln)
n.577-2557C>G
c.*3622-2557C>G (n.*3622-2557C>G)
c.4165G>C (p.Glu1389Gln)
c.3289G>C (p.Glu1097Gln)
c.2638G>C (p.Glu880Gln)
c.2242G>C (p.Glu748Gln)
c.1984G>C (p.Glu662Gln)
c.3262G>C (p.Glu1088Gln)
10g.75029151G>TCA377296722DUSP29,KAT6Bc.4327G>T (p.Glu1443Ter)
c.3778G>T (p.Glu1260Ter)
c.3451G>T (p.Glu1151Ter)
n.577-2557C>A
c.*3622-2557C>A (n.*3622-2557C>A)
c.4165G>T (p.Glu1389Ter)
c.3289G>T (p.Glu1097Ter)
c.2638G>T (p.Glu880Ter)
c.2242G>T (p.Glu748Ter)
c.1984G>T (p.Glu662Ter)
c.3262G>T (p.Glu1088Ter)
10g.75029152A>CCA377296723DUSP29,KAT6Bc.4328A>C (p.Glu1443Ala)
c.3779A>C (p.Glu1260Ala)
c.3452A>C (p.Glu1151Ala)
n.577-2558T>G
c.*3622-2558T>G (n.*3622-2558T>G)
c.4166A>C (p.Glu1389Ala)
c.3290A>C (p.Glu1097Ala)
c.2639A>C (p.Glu880Ala)
c.2243A>C (p.Glu748Ala)
c.1985A>C (p.Glu662Ala)
c.3263A>C (p.Glu1088Ala)
10g.75029152A>GCA377296725DUSP29,KAT6Bc.4328A>G (p.Glu1443Gly)
c.3779A>G (p.Glu1260Gly)
c.3452A>G (p.Glu1151Gly)
n.577-2558T>C
c.*3622-2558T>C (n.*3622-2558T>C)
c.4166A>G (p.Glu1389Gly)
c.3290A>G (p.Glu1097Gly)
c.2639A>G (p.Glu880Gly)
c.2243A>G (p.Glu748Gly)
c.1985A>G (p.Glu662Gly)
c.3263A>G (p.Glu1088Gly)
10g.75029152A>TCA377296724DUSP29,KAT6Bc.4328A>T (p.Glu1443Val)
c.3779A>T (p.Glu1260Val)
c.3452A>T (p.Glu1151Val)
n.577-2558T>A
c.*3622-2558T>A (n.*3622-2558T>A)
c.4166A>T (p.Glu1389Val)
c.3290A>T (p.Glu1097Val)
c.2639A>T (p.Glu880Val)
c.2243A>T (p.Glu748Val)
c.1985A>T (p.Glu662Val)
c.3263A>T (p.Glu1088Val)
10g.75029153G>ACA470300244DUSP29,KAT6Bc.4329G>A (p.Glu1443=)
c.3780G>A (p.Glu1260=)
c.3453G>A (p.Glu1151=)
n.577-2559C>T
c.*3622-2559C>T (n.*3622-2559C>T)
c.4167G>A (p.Glu1389=)
c.3291G>A (p.Glu1097=)
c.2640G>A (p.Glu880=)
c.2244G>A (p.Glu748=)
c.1986G>A (p.Glu662=)
c.3264G>A (p.Glu1088=)
10g.75029153G>CCA209709778DUSP29,KAT6Bc.4329G>C (p.Glu1443Asp)
c.3780G>C (p.Glu1260Asp)
c.3453G>C (p.Glu1151Asp)
n.577-2559C>G
c.*3622-2559C>G (n.*3622-2559C>G)
c.4167G>C (p.Glu1389Asp)
c.3291G>C (p.Glu1097Asp)
c.2640G>C (p.Glu880Asp)
c.2244G>C (p.Glu748Asp)
c.1986G>C (p.Glu662Asp)
c.3264G>C (p.Glu1088Asp)
 dbSNP gnomAD v3 gnomAD v4
10g.75029153G=CA1920306621DUSP29,KAT6Bc.4329G= (p.Glu1443=)
c.3780G= (p.Glu1260=)
c.3453G= (p.Glu1151=)
n.577-2559C=
c.*3622-2559C= (n.*3622-2559C=)
c.4167G= (p.Glu1389=)
c.3291G= (p.Glu1097=)
c.2640G= (p.Glu880=)
c.2244G= (p.Glu748=)
c.1986G= (p.Glu662=)
c.3264G= (p.Glu1088=)
10g.75029153G>TCA377296726DUSP29,KAT6Bc.4329G>T (p.Glu1443Asp)
c.3780G>T (p.Glu1260Asp)
c.3453G>T (p.Glu1151Asp)
n.577-2559C>A
c.*3622-2559C>A (n.*3622-2559C>A)
c.4167G>T (p.Glu1389Asp)
c.3291G>T (p.Glu1097Asp)
c.2640G>T (p.Glu880Asp)
c.2244G>T (p.Glu748Asp)
c.1986G>T (p.Glu662Asp)
c.3264G>T (p.Glu1088Asp)
10g.75029154C>ACA377296727DUSP29,KAT6Bc.4330C>A (p.Leu1444Met)
c.3781C>A (p.Leu1261Met)
c.3454C>A (p.Leu1152Met)
n.577-2560G>T
c.*3622-2560G>T (n.*3622-2560G>T)
c.4168C>A (p.Leu1390Met)
c.3292C>A (p.Leu1098Met)
c.2641C>A (p.Leu881Met)
c.2245C>A (p.Leu749Met)
c.1987C>A (p.Leu663Met)
c.3265C>A (p.Leu1089Met)
10g.75029154C=CA1920306622DUSP29,KAT6Bc.4330C= (p.Leu1444=)
c.3781C= (p.Leu1261=)
c.3454C= (p.Leu1152=)
n.577-2560G=
c.*3622-2560G= (n.*3622-2560G=)
c.4168C= (p.Leu1390=)
c.3292C= (p.Leu1098=)
c.2641C= (p.Leu881=)
c.2245C= (p.Leu749=)
c.1987C= (p.Leu663=)
c.3265C= (p.Leu1089=)
10g.75029154C>GCA5565020DUSP29,KAT6Bc.4330C>G (p.Leu1444Val)
c.3781C>G (p.Leu1261Val)
c.3454C>G (p.Leu1152Val)
n.577-2560G>C
c.*3622-2560G>C (n.*3622-2560G>C)
c.4168C>G (p.Leu1390Val)
c.3292C>G (p.Leu1098Val)
c.2641C>G (p.Leu881Val)
c.2245C>G (p.Leu749Val)
c.1987C>G (p.Leu663Val)
c.3265C>G (p.Leu1089Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.75029154C>TCA470300248DUSP29,KAT6Bc.4330C>T (p.Leu1444=)
c.3781C>T (p.Leu1261=)
c.3454C>T (p.Leu1152=)
n.577-2560G>A
c.*3622-2560G>A (n.*3622-2560G>A)
c.4168C>T (p.Leu1390=)
c.3292C>T (p.Leu1098=)
c.2641C>T (p.Leu881=)
c.2245C>T (p.Leu749=)
c.1987C>T (p.Leu663=)
c.3265C>T (p.Leu1089=)
10g.75029155T>ACA377296728DUSP29,KAT6Bc.4331T>A (p.Leu1444Gln)
c.3782T>A (p.Leu1261Gln)
c.3455T>A (p.Leu1152Gln)
n.577-2561A>T
c.*3622-2561A>T (n.*3622-2561A>T)
c.4169T>A (p.Leu1390Gln)
c.3293T>A (p.Leu1098Gln)
c.2642T>A (p.Leu881Gln)
c.2246T>A (p.Leu749Gln)
c.1988T>A (p.Leu663Gln)
c.3266T>A (p.Leu1089Gln)
10g.75029155T>CCA377296729DUSP29,KAT6Bc.4331T>C (p.Leu1444Pro)
c.3782T>C (p.Leu1261Pro)
c.3455T>C (p.Leu1152Pro)
n.577-2561A>G
c.*3622-2561A>G (n.*3622-2561A>G)
c.4169T>C (p.Leu1390Pro)
c.3293T>C (p.Leu1098Pro)
c.2642T>C (p.Leu881Pro)
c.2246T>C (p.Leu749Pro)
c.1988T>C (p.Leu663Pro)
c.3266T>C (p.Leu1089Pro)
 dbSNP gnomAD v4
10g.75029155T>GCA377296730DUSP29,KAT6Bc.4331T>G (p.Leu1444Arg)
c.3782T>G (p.Leu1261Arg)
c.3455T>G (p.Leu1152Arg)
n.577-2561A>C
c.*3622-2561A>C (n.*3622-2561A>C)
c.4169T>G (p.Leu1390Arg)
c.3293T>G (p.Leu1098Arg)
c.2642T>G (p.Leu881Arg)
c.2246T>G (p.Leu749Arg)
c.1988T>G (p.Leu663Arg)
c.3266T>G (p.Leu1089Arg)
10g.75029155T=CA1920306623DUSP29,KAT6Bc.4331T= (p.Leu1444=)
c.3782T= (p.Leu1261=)
c.3455T= (p.Leu1152=)
n.577-2561A=
c.*3622-2561A= (n.*3622-2561A=)
c.4169T= (p.Leu1390=)
c.3293T= (p.Leu1098=)
c.2642T= (p.Leu881=)
c.2246T= (p.Leu749=)
c.1988T= (p.Leu663=)
c.3266T= (p.Leu1089=)
10g.75029156G>ACA470300254DUSP29,KAT6Bc.4332G>A (p.Leu1444=)
c.3783G>A (p.Leu1261=)
c.3456G>A (p.Leu1152=)
n.577-2562C>T
c.*3622-2562C>T (n.*3622-2562C>T)
c.4170G>A (p.Leu1390=)
c.3294G>A (p.Leu1098=)
c.2643G>A (p.Leu881=)
c.2247G>A (p.Leu749=)
c.1989G>A (p.Leu663=)
c.3267G>A (p.Leu1089=)
 gnomAD v4
10g.75029156G>CCA470300256DUSP29,KAT6Bc.4332G>C (p.Leu1444=)
c.3783G>C (p.Leu1261=)
c.3456G>C (p.Leu1152=)
n.577-2562C>G
c.*3622-2562C>G (n.*3622-2562C>G)
c.4170G>C (p.Leu1390=)
c.3294G>C (p.Leu1098=)
c.2643G>C (p.Leu881=)
c.2247G>C (p.Leu749=)
c.1989G>C (p.Leu663=)
c.3267G>C (p.Leu1089=)
10g.75029156G>TCA470300255DUSP29,KAT6Bc.4332G>T (p.Leu1444=)
c.3783G>T (p.Leu1261=)
c.3456G>T (p.Leu1152=)
n.577-2562C>A
c.*3622-2562C>A (n.*3622-2562C>A)
c.4170G>T (p.Leu1390=)
c.3294G>T (p.Leu1098=)
c.2643G>T (p.Leu881=)
c.2247G>T (p.Leu749=)
c.1989G>T (p.Leu663=)
c.3267G>T (p.Leu1089=)
10g.75029157C>ACA377296731DUSP29,KAT6Bc.4333C>A (p.Pro1445Thr)
c.3784C>A (p.Pro1262Thr)
c.3457C>A (p.Pro1153Thr)
n.577-2563G>T
c.*3622-2563G>T (n.*3622-2563G>T)
c.4171C>A (p.Pro1391Thr)
c.3295C>A (p.Pro1099Thr)
c.2644C>A (p.Pro882Thr)
c.2248C>A (p.Pro750Thr)
c.1990C>A (p.Pro664Thr)
c.3268C>A (p.Pro1090Thr)
10g.75029157C>GCA377296732DUSP29,KAT6Bc.4333C>G (p.Pro1445Ala)
c.3784C>G (p.Pro1262Ala)
c.3457C>G (p.Pro1153Ala)
n.577-2563G>C
c.*3622-2563G>C (n.*3622-2563G>C)
c.4171C>G (p.Pro1391Ala)
c.3295C>G (p.Pro1099Ala)
c.2644C>G (p.Pro882Ala)
c.2248C>G (p.Pro750Ala)
c.1990C>G (p.Pro664Ala)
c.3268C>G (p.Pro1090Ala)
10g.75029157C>TCA377296733DUSP29,KAT6Bc.4333C>T (p.Pro1445Ser)
c.3784C>T (p.Pro1262Ser)
c.3457C>T (p.Pro1153Ser)
n.577-2563G>A
c.*3622-2563G>A (n.*3622-2563G>A)
c.4171C>T (p.Pro1391Ser)
c.3295C>T (p.Pro1099Ser)
c.2644C>T (p.Pro882Ser)
c.2248C>T (p.Pro750Ser)
c.1990C>T (p.Pro664Ser)
c.3268C>T (p.Pro1090Ser)
 gnomAD v4 COSMIC
10g.75029158C>ACA377296736DUSP29,KAT6Bc.4334C>A (p.Pro1445His)
c.3785C>A (p.Pro1262His)
c.3458C>A (p.Pro1153His)
n.577-2564G>T
c.*3622-2564G>T (n.*3622-2564G>T)
c.4172C>A (p.Pro1391His)
c.3296C>A (p.Pro1099His)
c.2645C>A (p.Pro882His)
c.2249C>A (p.Pro750His)
c.1991C>A (p.Pro664His)
c.3269C>A (p.Pro1090His)
10g.75029158C>GCA377296735DUSP29,KAT6Bc.4334C>G (p.Pro1445Arg)
c.3785C>G (p.Pro1262Arg)
c.3458C>G (p.Pro1153Arg)
n.577-2564G>C
c.*3622-2564G>C (n.*3622-2564G>C)
c.4172C>G (p.Pro1391Arg)
c.3296C>G (p.Pro1099Arg)
c.2645C>G (p.Pro882Arg)
c.2249C>G (p.Pro750Arg)
c.1991C>G (p.Pro664Arg)
c.3269C>G (p.Pro1090Arg)
10g.75029158C>TCA377296734DUSP29,KAT6Bc.4334C>T (p.Pro1445Leu)
c.3785C>T (p.Pro1262Leu)
c.3458C>T (p.Pro1153Leu)
n.577-2564G>A
c.*3622-2564G>A (n.*3622-2564G>A)
c.4172C>T (p.Pro1391Leu)
c.3296C>T (p.Pro1099Leu)
c.2645C>T (p.Pro882Leu)
c.2249C>T (p.Pro750Leu)
c.1991C>T (p.Pro664Leu)
c.3269C>T (p.Pro1090Leu)
10g.75029159C>ACA470300259DUSP29,KAT6Bc.4335C>A (p.Pro1445=)
c.3786C>A (p.Pro1262=)
c.3459C>A (p.Pro1153=)
n.577-2565G>T
c.*3622-2565G>T (n.*3622-2565G>T)
c.4173C>A (p.Pro1391=)
c.3297C>A (p.Pro1099=)
c.2646C>A (p.Pro882=)
c.2250C>A (p.Pro750=)
c.1992C>A (p.Pro664=)
c.3270C>A (p.Pro1090=)
10g.75029159C>GCA470300261DUSP29,KAT6Bc.4335C>G (p.Pro1445=)
c.3786C>G (p.Pro1262=)
c.3459C>G (p.Pro1153=)
n.577-2565G>C
c.*3622-2565G>C (n.*3622-2565G>C)
c.4173C>G (p.Pro1391=)
c.3297C>G (p.Pro1099=)
c.2646C>G (p.Pro882=)
c.2250C>G (p.Pro750=)
c.1992C>G (p.Pro664=)
c.3270C>G (p.Pro1090=)
10g.75029159C>TCA470300263DUSP29,KAT6Bc.4335C>T (p.Pro1445=)
c.3786C>T (p.Pro1262=)
c.3459C>T (p.Pro1153=)
n.577-2565G>A
c.*3622-2565G>A (n.*3622-2565G>A)
c.4173C>T (p.Pro1391=)
c.3297C>T (p.Pro1099=)
c.2646C>T (p.Pro882=)
c.2250C>T (p.Pro750=)
c.1992C>T (p.Pro664=)
c.3270C>T (p.Pro1090=)
10g.75029159_75029160insGCA2567704338DUSP29,KAT6Bc.4335_4336insG (p.Arg1446GlufsTer18)
c.3786_3787insG (p.Arg1263GlufsTer18)
c.3459_3460insG (p.Arg1154GlufsTer18)
n.577-2566_577-2565insC
c.*3622-2566_*3622-2565insC (n.*3622-2566_*3622-2565insC)
c.4173_4174insG (p.Arg1392GlufsTer18)
c.3297_3298insG (p.Arg1100GlufsTer18)
c.2646_2647insG (p.Arg883GlufsTer18)
c.2250_2251insG (p.Arg751GlufsTer18)
c.1992_1993insG (p.Arg665GlufsTer18)
c.3270_3271insG (p.Arg1091GlufsTer18)
10g.75029160A>CCA470300265DUSP29,KAT6Bc.4336A>C (p.Arg1446=)
c.3787A>C (p.Arg1263=)
c.3460A>C (p.Arg1154=)
n.577-2566T>G
c.*3622-2566T>G (n.*3622-2566T>G)
c.4174A>C (p.Arg1392=)
c.3298A>C (p.Arg1100=)
c.2647A>C (p.Arg883=)
c.2251A>C (p.Arg751=)
c.1993A>C (p.Arg665=)
c.3271A>C (p.Arg1091=)
10g.75029160A>GCA377296737DUSP29,KAT6Bc.4336A>G (p.Arg1446Gly)
c.3787A>G (p.Arg1263Gly)
c.3460A>G (p.Arg1154Gly)
n.577-2566T>C
c.*3622-2566T>C (n.*3622-2566T>C)
c.4174A>G (p.Arg1392Gly)
c.3298A>G (p.Arg1100Gly)
c.2647A>G (p.Arg883Gly)
c.2251A>G (p.Arg751Gly)
c.1993A>G (p.Arg665Gly)
c.3271A>G (p.Arg1091Gly)
 gnomAD v4
10g.75029160A>TCA377296738DUSP29,KAT6Bc.4336A>T (p.Arg1446Ter)
c.3787A>T (p.Arg1263Ter)
c.3460A>T (p.Arg1154Ter)
n.577-2566T>A
c.*3622-2566T>A (n.*3622-2566T>A)
c.4174A>T (p.Arg1392Ter)
c.3298A>T (p.Arg1100Ter)
c.2647A>T (p.Arg883Ter)
c.2251A>T (p.Arg751Ter)
c.1993A>T (p.Arg665Ter)
c.3271A>T (p.Arg1091Ter)
10g.75029161G>ACA377296739DUSP29,KAT6Bc.4337G>A (p.Arg1446Lys)
c.3788G>A (p.Arg1263Lys)
c.3461G>A (p.Arg1154Lys)
n.577-2567C>T
c.*3622-2567C>T (n.*3622-2567C>T)
c.4175G>A (p.Arg1392Lys)
c.3299G>A (p.Arg1100Lys)
c.2648G>A (p.Arg883Lys)
c.2252G>A (p.Arg751Lys)
c.1994G>A (p.Arg665Lys)
c.3272G>A (p.Arg1091Lys)
10g.75029161G>CCA377296740DUSP29,KAT6Bc.4337G>C (p.Arg1446Thr)
c.3788G>C (p.Arg1263Thr)
c.3461G>C (p.Arg1154Thr)
n.577-2567C>G
c.*3622-2567C>G (n.*3622-2567C>G)
c.4175G>C (p.Arg1392Thr)
c.3299G>C (p.Arg1100Thr)
c.2648G>C (p.Arg883Thr)
c.2252G>C (p.Arg751Thr)
c.1994G>C (p.Arg665Thr)
c.3272G>C (p.Arg1091Thr)
10g.75029161G>TCA377296741DUSP29,KAT6Bc.4337G>T (p.Arg1446Ile)
c.3788G>T (p.Arg1263Ile)
c.3461G>T (p.Arg1154Ile)
n.577-2567C>A
c.*3622-2567C>A (n.*3622-2567C>A)
c.4175G>T (p.Arg1392Ile)
c.3299G>T (p.Arg1100Ile)
c.2648G>T (p.Arg883Ile)
c.2252G>T (p.Arg751Ile)
c.1994G>T (p.Arg665Ile)
c.3272G>T (p.Arg1091Ile)
10g.75029162A>CCA377296742DUSP29,KAT6Bc.4338A>C (p.Arg1446Ser)
c.3789A>C (p.Arg1263Ser)
c.3462A>C (p.Arg1154Ser)
n.577-2568T>G
c.*3622-2568T>G (n.*3622-2568T>G)
c.4176A>C (p.Arg1392Ser)
c.3300A>C (p.Arg1100Ser)
c.2649A>C (p.Arg883Ser)
c.2253A>C (p.Arg751Ser)
c.1995A>C (p.Arg665Ser)
c.3273A>C (p.Arg1091Ser)
10g.75029162A>GCA470300272DUSP29,KAT6Bc.4338A>G (p.Arg1446=)
c.3789A>G (p.Arg1263=)
c.3462A>G (p.Arg1154=)
n.577-2568T>C
c.*3622-2568T>C (n.*3622-2568T>C)
c.4176A>G (p.Arg1392=)
c.3300A>G (p.Arg1100=)
c.2649A>G (p.Arg883=)
c.2253A>G (p.Arg751=)
c.1995A>G (p.Arg665=)
c.3273A>G (p.Arg1091=)
10g.75029162A>TCA377296743DUSP29,KAT6Bc.4338A>T (p.Arg1446Ser)
c.3789A>T (p.Arg1263Ser)
c.3462A>T (p.Arg1154Ser)
n.577-2568T>A
c.*3622-2568T>A (n.*3622-2568T>A)
c.4176A>T (p.Arg1392Ser)
c.3300A>T (p.Arg1100Ser)
c.2649A>T (p.Arg883Ser)
c.2253A>T (p.Arg751Ser)
c.1995A>T (p.Arg665Ser)
c.3273A>T (p.Arg1091Ser)
10g.75029163G>ACA377296744DUSP29,KAT6Bc.4339G>A (p.Glu1447Lys)
c.3790G>A (p.Glu1264Lys)
c.3463G>A (p.Glu1155Lys)
n.577-2569C>T
c.*3622-2569C>T (n.*3622-2569C>T)
c.4177G>A (p.Glu1393Lys)
c.3301G>A (p.Glu1101Lys)
c.2650G>A (p.Glu884Lys)
c.2254G>A (p.Glu752Lys)
c.1996G>A (p.Glu666Lys)
c.3274G>A (p.Glu1092Lys)
10g.75029163G>CCA377296745DUSP29,KAT6Bc.4339G>C (p.Glu1447Gln)
c.3790G>C (p.Glu1264Gln)
c.3463G>C (p.Glu1155Gln)
n.577-2569C>G
c.*3622-2569C>G (n.*3622-2569C>G)
c.4177G>C (p.Glu1393Gln)
c.3301G>C (p.Glu1101Gln)
c.2650G>C (p.Glu884Gln)
c.2254G>C (p.Glu752Gln)
c.1996G>C (p.Glu666Gln)
c.3274G>C (p.Glu1092Gln)
10g.75029163G>TCA377296746DUSP29,KAT6Bc.4339G>T (p.Glu1447Ter)
c.3790G>T (p.Glu1264Ter)
c.3463G>T (p.Glu1155Ter)
n.577-2569C>A
c.*3622-2569C>A (n.*3622-2569C>A)
c.4177G>T (p.Glu1393Ter)
c.3301G>T (p.Glu1101Ter)
c.2650G>T (p.Glu884Ter)
c.2254G>T (p.Glu752Ter)
c.1996G>T (p.Glu666Ter)
c.3274G>T (p.Glu1092Ter)
10g.75029164A>CCA377296747DUSP29,KAT6Bc.4340A>C (p.Glu1447Ala)
c.3791A>C (p.Glu1264Ala)
c.3464A>C (p.Glu1155Ala)
n.577-2570T>G
c.*3622-2570T>G (n.*3622-2570T>G)
c.4178A>C (p.Glu1393Ala)
c.3302A>C (p.Glu1101Ala)
c.2651A>C (p.Glu884Ala)
c.2255A>C (p.Glu752Ala)
c.1997A>C (p.Glu666Ala)
c.3275A>C (p.Glu1092Ala)
10g.75029164A>GCA377296748DUSP29,KAT6Bc.4340A>G (p.Glu1447Gly)
c.3791A>G (p.Glu1264Gly)
c.3464A>G (p.Glu1155Gly)
n.577-2570T>C
c.*3622-2570T>C (n.*3622-2570T>C)
c.4178A>G (p.Glu1393Gly)
c.3302A>G (p.Glu1101Gly)
c.2651A>G (p.Glu884Gly)
c.2255A>G (p.Glu752Gly)
c.1997A>G (p.Glu666Gly)
c.3275A>G (p.Glu1092Gly)
10g.75029164A>TCA377296749DUSP29,KAT6Bc.4340A>T (p.Glu1447Val)
c.3791A>T (p.Glu1264Val)
c.3464A>T (p.Glu1155Val)
n.577-2570T>A
c.*3622-2570T>A (n.*3622-2570T>A)
c.4178A>T (p.Glu1393Val)
c.3302A>T (p.Glu1101Val)
c.2651A>T (p.Glu884Val)
c.2255A>T (p.Glu752Val)
c.1997A>T (p.Glu666Val)
c.3275A>T (p.Glu1092Val)
 gnomAD v4
10g.75029165A=CA1920306624DUSP29,KAT6Bc.4341A= (p.Glu1447=)
c.3792A= (p.Glu1264=)
c.3465A= (p.Glu1155=)
n.577-2571T=
c.*3622-2571T= (n.*3622-2571T=)
c.4179A= (p.Glu1393=)
c.3303A= (p.Glu1101=)
c.2652A= (p.Glu884=)
c.2256A= (p.Glu752=)
c.1998A= (p.Glu666=)
c.3276A= (p.Glu1092=)
10g.75029165A>CCA377296750DUSP29,KAT6Bc.4341A>C (p.Glu1447Asp)
c.3792A>C (p.Glu1264Asp)
c.3465A>C (p.Glu1155Asp)
n.577-2571T>G
c.*3622-2571T>G (n.*3622-2571T>G)
c.4179A>C (p.Glu1393Asp)
c.3303A>C (p.Glu1101Asp)
c.2652A>C (p.Glu884Asp)
c.2256A>C (p.Glu752Asp)
c.1998A>C (p.Glu666Asp)
c.3276A>C (p.Glu1092Asp)
10g.75029165A>GCA470300280DUSP29,KAT6Bc.4341A>G (p.Glu1447=)
c.3792A>G (p.Glu1264=)
c.3465A>G (p.Glu1155=)
n.577-2571T>C
c.*3622-2571T>C (n.*3622-2571T>C)
c.4179A>G (p.Glu1393=)
c.3303A>G (p.Glu1101=)
c.2652A>G (p.Glu884=)
c.2256A>G (p.Glu752=)
c.1998A>G (p.Glu666=)
c.3276A>G (p.Glu1092=)
 dbSNP
10g.75029165A>TCA377296751DUSP29,KAT6Bc.4341A>T (p.Glu1447Asp)
c.3792A>T (p.Glu1264Asp)
c.3465A>T (p.Glu1155Asp)
n.577-2571T>A
c.*3622-2571T>A (n.*3622-2571T>A)
c.4179A>T (p.Glu1393Asp)
c.3303A>T (p.Glu1101Asp)
c.2652A>T (p.Glu884Asp)
c.2256A>T (p.Glu752Asp)
c.1998A>T (p.Glu666Asp)
c.3276A>T (p.Glu1092Asp)
10g.75029166A=CA1920306625DUSP29,KAT6Bc.4342A= (p.Ser1448=)
c.3793A= (p.Ser1265=)
c.3466A= (p.Ser1156=)
n.577-2572T=
c.*3622-2572T= (n.*3622-2572T=)
c.4180A= (p.Ser1394=)
c.3304A= (p.Ser1102=)
c.2653A= (p.Ser885=)
c.2257A= (p.Ser753=)
c.1999A= (p.Ser667=)
c.3277A= (p.Ser1093=)
10g.75029166A>CCA377296752DUSP29,KAT6Bc.4342A>C (p.Ser1448Arg)
c.3793A>C (p.Ser1265Arg)
c.3466A>C (p.Ser1156Arg)
n.577-2572T>G
c.*3622-2572T>G (n.*3622-2572T>G)
c.4180A>C (p.Ser1394Arg)
c.3304A>C (p.Ser1102Arg)
c.2653A>C (p.Ser885Arg)
c.2257A>C (p.Ser753Arg)
c.1999A>C (p.Ser667Arg)
c.3277A>C (p.Ser1093Arg)
10g.75029166A>GCA377296754DUSP29,KAT6Bc.4342A>G (p.Ser1448Gly)
c.3793A>G (p.Ser1265Gly)
c.3466A>G (p.Ser1156Gly)
n.577-2572T>C
c.*3622-2572T>C (n.*3622-2572T>C)
c.4180A>G (p.Ser1394Gly)
c.3304A>G (p.Ser1102Gly)
c.2653A>G (p.Ser885Gly)
c.2257A>G (p.Ser753Gly)
c.1999A>G (p.Ser667Gly)
c.3277A>G (p.Ser1093Gly)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.75029166A>TCA377296753DUSP29,KAT6Bc.4342A>T (p.Ser1448Cys)
c.3793A>T (p.Ser1265Cys)
c.3466A>T (p.Ser1156Cys)
n.577-2572T>A
c.*3622-2572T>A (n.*3622-2572T>A)
c.4180A>T (p.Ser1394Cys)
c.3304A>T (p.Ser1102Cys)
c.2653A>T (p.Ser885Cys)
c.2257A>T (p.Ser753Cys)
c.1999A>T (p.Ser667Cys)
c.3277A>T (p.Ser1093Cys)
10g.75029167G>ACA377296755DUSP29,KAT6Bc.4343G>A (p.Ser1448Asn)
c.3794G>A (p.Ser1265Asn)
c.3467G>A (p.Ser1156Asn)
n.577-2573C>T
c.*3622-2573C>T (n.*3622-2573C>T)
c.4181G>A (p.Ser1394Asn)
c.3305G>A (p.Ser1102Asn)
c.2654G>A (p.Ser885Asn)
c.2258G>A (p.Ser753Asn)
c.2000G>A (p.Ser667Asn)
c.3278G>A (p.Ser1093Asn)
 dbSNP gnomAD v2 gnomAD v4
10g.75029167G>CCA377296756DUSP29,KAT6Bc.4343G>C (p.Ser1448Thr)
c.3794G>C (p.Ser1265Thr)
c.3467G>C (p.Ser1156Thr)
n.577-2573C>G
c.*3622-2573C>G (n.*3622-2573C>G)
c.4181G>C (p.Ser1394Thr)
c.3305G>C (p.Ser1102Thr)
c.2654G>C (p.Ser885Thr)
c.2258G>C (p.Ser753Thr)
c.2000G>C (p.Ser667Thr)
c.3278G>C (p.Ser1093Thr)
10g.75029167G=CA1920306626DUSP29,KAT6Bc.4343G= (p.Ser1448=)
c.3794G= (p.Ser1265=)
c.3467G= (p.Ser1156=)
n.577-2573C=
c.*3622-2573C= (n.*3622-2573C=)
c.4181G= (p.Ser1394=)
c.3305G= (p.Ser1102=)
c.2654G= (p.Ser885=)
c.2258G= (p.Ser753=)
c.2000G= (p.Ser667=)
c.3278G= (p.Ser1093=)
10g.75029167G>TCA377296757DUSP29,KAT6Bc.4343G>T (p.Ser1448Ile)
c.3794G>T (p.Ser1265Ile)
c.3467G>T (p.Ser1156Ile)
n.577-2573C>A
c.*3622-2573C>A (n.*3622-2573C>A)
c.4181G>T (p.Ser1394Ile)
c.3305G>T (p.Ser1102Ile)
c.2654G>T (p.Ser885Ile)
c.2258G>T (p.Ser753Ile)
c.2000G>T (p.Ser667Ile)
c.3278G>T (p.Ser1093Ile)
10g.75029168C>ACA377296758DUSP29,KAT6Bc.4344C>A (p.Ser1448Arg)
c.3795C>A (p.Ser1265Arg)
c.3468C>A (p.Ser1156Arg)
n.577-2574G>T
c.*3622-2574G>T (n.*3622-2574G>T)
c.4182C>A (p.Ser1394Arg)
c.3306C>A (p.Ser1102Arg)
c.2655C>A (p.Ser885Arg)
c.2259C>A (p.Ser753Arg)
c.2001C>A (p.Ser667Arg)
c.3279C>A (p.Ser1093Arg)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
10g.75029168C=CA1920306627DUSP29,KAT6Bc.4344C= (p.Ser1448=)
c.3795C= (p.Ser1265=)
c.3468C= (p.Ser1156=)
n.577-2574G=
c.*3622-2574G= (n.*3622-2574G=)
c.4182C= (p.Ser1394=)
c.3306C= (p.Ser1102=)
c.2655C= (p.Ser885=)
c.2259C= (p.Ser753=)
c.2001C= (p.Ser667=)
c.3279C= (p.Ser1093=)
10g.75029168C>GCA377296759DUSP29,KAT6Bc.4344C>G (p.Ser1448Arg)
c.3795C>G (p.Ser1265Arg)
c.3468C>G (p.Ser1156Arg)
n.577-2574G>C
c.*3622-2574G>C (n.*3622-2574G>C)
c.4182C>G (p.Ser1394Arg)
c.3306C>G (p.Ser1102Arg)
c.2655C>G (p.Ser885Arg)
c.2259C>G (p.Ser753Arg)
c.2001C>G (p.Ser667Arg)
c.3279C>G (p.Ser1093Arg)
10g.75029168C>TCA470300286DUSP29,KAT6Bc.4344C>T (p.Ser1448=)
c.3795C>T (p.Ser1265=)
c.3468C>T (p.Ser1156=)
n.577-2574G>A
c.*3622-2574G>A (n.*3622-2574G>A)
c.4182C>T (p.Ser1394=)
c.3306C>T (p.Ser1102=)
c.2655C>T (p.Ser885=)
c.2259C>T (p.Ser753=)
c.2001C>T (p.Ser667=)
c.3279C>T (p.Ser1093=)
 dbSNP gnomAD v3 gnomAD v4
10g.75029169T>ACA377296760DUSP29,KAT6Bc.4345T>A (p.Phe1449Ile)
c.3796T>A (p.Phe1266Ile)
c.3469T>A (p.Phe1157Ile)
n.577-2575A>T
c.*3622-2575A>T (n.*3622-2575A>T)
c.4183T>A (p.Phe1395Ile)
c.3307T>A (p.Phe1103Ile)
c.2656T>A (p.Phe886Ile)
c.2260T>A (p.Phe754Ile)
c.2002T>A (p.Phe668Ile)
c.3280T>A (p.Phe1094Ile)
10g.75029169T>CCA377296761DUSP29,KAT6Bc.4345T>C (p.Phe1449Leu)
c.3796T>C (p.Phe1266Leu)
c.3469T>C (p.Phe1157Leu)
n.577-2575A>G
c.*3622-2575A>G (n.*3622-2575A>G)
c.4183T>C (p.Phe1395Leu)
c.3307T>C (p.Phe1103Leu)
c.2656T>C (p.Phe886Leu)
c.2260T>C (p.Phe754Leu)
c.2002T>C (p.Phe668Leu)
c.3280T>C (p.Phe1094Leu)
10g.75029169T>GCA377296762DUSP29,KAT6Bc.4345T>G (p.Phe1449Val)
c.3796T>G (p.Phe1266Val)
c.3469T>G (p.Phe1157Val)
n.577-2575A>C
c.*3622-2575A>C (n.*3622-2575A>C)
c.4183T>G (p.Phe1395Val)
c.3307T>G (p.Phe1103Val)
c.2656T>G (p.Phe886Val)
c.2260T>G (p.Phe754Val)
c.2002T>G (p.Phe668Val)
c.3280T>G (p.Phe1094Val)
 dbSNP
10g.75029169T=CA1920306628DUSP29,KAT6Bc.4345T= (p.Phe1449=)
c.3796T= (p.Phe1266=)
c.3469T= (p.Phe1157=)
n.577-2575A=
c.*3622-2575A= (n.*3622-2575A=)
c.4183T= (p.Phe1395=)
c.3307T= (p.Phe1103=)
c.2656T= (p.Phe886=)
c.2260T= (p.Phe754=)
c.2002T= (p.Phe668=)
c.3280T= (p.Phe1094=)
10g.75029170T>ACA377296763DUSP29,KAT6Bc.4346T>A (p.Phe1449Tyr)
c.3797T>A (p.Phe1266Tyr)
c.3470T>A (p.Phe1157Tyr)
n.577-2576A>T
c.*3622-2576A>T (n.*3622-2576A>T)
c.4184T>A (p.Phe1395Tyr)
c.3308T>A (p.Phe1103Tyr)
c.2657T>A (p.Phe886Tyr)
c.2261T>A (p.Phe754Tyr)
c.2003T>A (p.Phe668Tyr)
c.3281T>A (p.Phe1094Tyr)
10g.75029170T>CCA377296764DUSP29,KAT6Bc.4346T>C (p.Phe1449Ser)
c.3797T>C (p.Phe1266Ser)
c.3470T>C (p.Phe1157Ser)
n.577-2576A>G
c.*3622-2576A>G (n.*3622-2576A>G)
c.4184T>C (p.Phe1395Ser)
c.3308T>C (p.Phe1103Ser)
c.2657T>C (p.Phe886Ser)
c.2261T>C (p.Phe754Ser)
c.2003T>C (p.Phe668Ser)
c.3281T>C (p.Phe1094Ser)
10g.75029170T>GCA377296765DUSP29,KAT6Bc.4346T>G (p.Phe1449Cys)
c.3797T>G (p.Phe1266Cys)
c.3470T>G (p.Phe1157Cys)
n.577-2576A>C
c.*3622-2576A>C (n.*3622-2576A>C)
c.4184T>G (p.Phe1395Cys)
c.3308T>G (p.Phe1103Cys)
c.2657T>G (p.Phe886Cys)
c.2261T>G (p.Phe754Cys)
c.2003T>G (p.Phe668Cys)
c.3281T>G (p.Phe1094Cys)
10g.75029171C>ACA377296767DUSP29,KAT6Bc.4347C>A (p.Phe1449Leu)
c.3798C>A (p.Phe1266Leu)
c.3471C>A (p.Phe1157Leu)
n.577-2577G>T
c.*3622-2577G>T (n.*3622-2577G>T)
c.4185C>A (p.Phe1395Leu)
c.3309C>A (p.Phe1103Leu)
c.2658C>A (p.Phe886Leu)
c.2262C>A (p.Phe754Leu)
c.2004C>A (p.Phe668Leu)
c.3282C>A (p.Phe1094Leu)
10g.75029171C>GCA377296766DUSP29,KAT6Bc.4347C>G (p.Phe1449Leu)
c.3798C>G (p.Phe1266Leu)
c.3471C>G (p.Phe1157Leu)
n.577-2577G>C
c.*3622-2577G>C (n.*3622-2577G>C)
c.4185C>G (p.Phe1395Leu)
c.3309C>G (p.Phe1103Leu)
c.2658C>G (p.Phe886Leu)
c.2262C>G (p.Phe754Leu)
c.2004C>G (p.Phe668Leu)
c.3282C>G (p.Phe1094Leu)
10g.75029171C>TCA470300291DUSP29,KAT6Bc.4347C>T (p.Phe1449=)
c.3798C>T (p.Phe1266=)
c.3471C>T (p.Phe1157=)
n.577-2577G>A
c.*3622-2577G>A (n.*3622-2577G>A)
c.4185C>T (p.Phe1395=)
c.3309C>T (p.Phe1103=)
c.2658C>T (p.Phe886=)
c.2262C>T (p.Phe754=)
c.2004C>T (p.Phe668=)
c.3282C>T (p.Phe1094=)
10g.75029172A>CCA377296768DUSP29,KAT6Bc.4348A>C (p.Lys1450Gln)
c.3799A>C (p.Lys1267Gln)
c.3472A>C (p.Lys1158Gln)
n.577-2578T>G
c.*3622-2578T>G (n.*3622-2578T>G)
c.4186A>C (p.Lys1396Gln)
c.3310A>C (p.Lys1104Gln)
c.2659A>C (p.Lys887Gln)
c.2263A>C (p.Lys755Gln)
c.2005A>C (p.Lys669Gln)
c.3283A>C (p.Lys1095Gln)
10g.75029172A>GCA377296769DUSP29,KAT6Bc.4348A>G (p.Lys1450Glu)
c.3799A>G (p.Lys1267Glu)
c.3472A>G (p.Lys1158Glu)
n.577-2578T>C
c.*3622-2578T>C (n.*3622-2578T>C)
c.4186A>G (p.Lys1396Glu)
c.3310A>G (p.Lys1104Glu)
c.2659A>G (p.Lys887Glu)
c.2263A>G (p.Lys755Glu)
c.2005A>G (p.Lys669Glu)
c.3283A>G (p.Lys1095Glu)
10g.75029172A>TCA377296770DUSP29,KAT6Bc.4348A>T (p.Lys1450Ter)
c.3799A>T (p.Lys1267Ter)
c.3472A>T (p.Lys1158Ter)
n.577-2578T>A
c.*3622-2578T>A (n.*3622-2578T>A)
c.4186A>T (p.Lys1396Ter)
c.3310A>T (p.Lys1104Ter)
c.2659A>T (p.Lys887Ter)
c.2263A>T (p.Lys755Ter)
c.2005A>T (p.Lys669Ter)
c.3283A>T (p.Lys1095Ter)
10g.75029173A=CA1920306629DUSP29,KAT6Bc.4349A= (p.Lys1450=)
c.3800A= (p.Lys1267=)
c.3473A= (p.Lys1158=)
n.577-2579T=
c.*3622-2579T= (n.*3622-2579T=)
c.4187A= (p.Lys1396=)
c.3311A= (p.Lys1104=)
c.2660A= (p.Lys887=)
c.2264A= (p.Lys755=)
c.2006A= (p.Lys669=)
c.3284A= (p.Lys1095=)
10g.75029173A>CCA377296771DUSP29,KAT6Bc.4349A>C (p.Lys1450Thr)
c.3800A>C (p.Lys1267Thr)
c.3473A>C (p.Lys1158Thr)
n.577-2579T>G
c.*3622-2579T>G (n.*3622-2579T>G)
c.4187A>C (p.Lys1396Thr)
c.3311A>C (p.Lys1104Thr)
c.2660A>C (p.Lys887Thr)
c.2264A>C (p.Lys755Thr)
c.2006A>C (p.Lys669Thr)
c.3284A>C (p.Lys1095Thr)
10g.75029173A>GCA5565021DUSP29,KAT6Bc.4349A>G (p.Lys1450Arg)
c.3800A>G (p.Lys1267Arg)
c.3473A>G (p.Lys1158Arg)
n.577-2579T>C
c.*3622-2579T>C (n.*3622-2579T>C)
c.4187A>G (p.Lys1396Arg)
c.3311A>G (p.Lys1104Arg)
c.2660A>G (p.Lys887Arg)
c.2264A>G (p.Lys755Arg)
c.2006A>G (p.Lys669Arg)
c.3284A>G (p.Lys1095Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.75029173A>TCA377296772DUSP29,KAT6Bc.4349A>T (p.Lys1450Ile)
c.3800A>T (p.Lys1267Ile)
c.3473A>T (p.Lys1158Ile)
n.577-2579T>A
c.*3622-2579T>A (n.*3622-2579T>A)
c.4187A>T (p.Lys1396Ile)
c.3311A>T (p.Lys1104Ile)
c.2660A>T (p.Lys887Ile)
c.2264A>T (p.Lys755Ile)
c.2006A>T (p.Lys669Ile)
c.3284A>T (p.Lys1095Ile)
10g.75029174A>CCA377296773DUSP29,KAT6Bc.4350A>C (p.Lys1450Asn)
c.3801A>C (p.Lys1267Asn)
c.3474A>C (p.Lys1158Asn)
n.577-2580T>G
c.*3622-2580T>G (n.*3622-2580T>G)
c.4188A>C (p.Lys1396Asn)
c.3312A>C (p.Lys1104Asn)
c.2661A>C (p.Lys887Asn)
c.2265A>C (p.Lys755Asn)
c.2007A>C (p.Lys669Asn)
c.3285A>C (p.Lys1095Asn)
10g.75029174A>GCA470300295DUSP29,KAT6Bc.4350A>G (p.Lys1450=)
c.3801A>G (p.Lys1267=)
c.3474A>G (p.Lys1158=)
n.577-2580T>C
c.*3622-2580T>C (n.*3622-2580T>C)
c.4188A>G (p.Lys1396=)
c.3312A>G (p.Lys1104=)
c.2661A>G (p.Lys887=)
c.2265A>G (p.Lys755=)
c.2007A>G (p.Lys669=)
c.3285A>G (p.Lys1095=)
10g.75029174A>TCA377296774DUSP29,KAT6Bc.4350A>T (p.Lys1450Asn)
c.3801A>T (p.Lys1267Asn)
c.3474A>T (p.Lys1158Asn)
n.577-2580T>A
c.*3622-2580T>A (n.*3622-2580T>A)
c.4188A>T (p.Lys1396Asn)
c.3312A>T (p.Lys1104Asn)
c.2661A>T (p.Lys887Asn)
c.2265A>T (p.Lys755Asn)
c.2007A>T (p.Lys669Asn)
c.3285A>T (p.Lys1095Asn)
10g.75029175G>ACA209709799DUSP29,KAT6Bc.4351G>A (p.Glu1451Lys)
c.3802G>A (p.Glu1268Lys)
c.3475G>A (p.Glu1159Lys)
n.577-2581C>T
c.*3622-2581C>T (n.*3622-2581C>T)
c.4189G>A (p.Glu1397Lys)
c.3313G>A (p.Glu1105Lys)
c.2662G>A (p.Glu888Lys)
c.2266G>A (p.Glu756Lys)
c.2008G>A (p.Glu670Lys)
c.3286G>A (p.Glu1096Lys)
 dbSNP gnomAD v3 gnomAD v4
10g.75029175G>CCA377296775DUSP29,KAT6Bc.4351G>C (p.Glu1451Gln)
c.3802G>C (p.Glu1268Gln)
c.3475G>C (p.Glu1159Gln)
n.577-2581C>G
c.*3622-2581C>G (n.*3622-2581C>G)
c.4189G>C (p.Glu1397Gln)
c.3313G>C (p.Glu1105Gln)
c.2662G>C (p.Glu888Gln)
c.2266G>C (p.Glu756Gln)
c.2008G>C (p.Glu670Gln)
c.3286G>C (p.Glu1096Gln)
 dbSNP gnomAD v3 gnomAD v4
10g.75029175G=CA1920306630DUSP29,KAT6Bc.4351G= (p.Glu1451=)
c.3802G= (p.Glu1268=)
c.3475G= (p.Glu1159=)
n.577-2581C=
c.*3622-2581C= (n.*3622-2581C=)
c.4189G= (p.Glu1397=)
c.3313G= (p.Glu1105=)
c.2662G= (p.Glu888=)
c.2266G= (p.Glu756=)
c.2008G= (p.Glu670=)
c.3286G= (p.Glu1096=)
10g.75029175G>TCA377296776DUSP29,KAT6Bc.4351G>T (p.Glu1451Ter)
c.3802G>T (p.Glu1268Ter)
c.3475G>T (p.Glu1159Ter)
n.577-2581C>A
c.*3622-2581C>A (n.*3622-2581C>A)
c.4189G>T (p.Glu1397Ter)
c.3313G>T (p.Glu1105Ter)
c.2662G>T (p.Glu888Ter)
c.2266G>T (p.Glu756Ter)
c.2008G>T (p.Glu670Ter)
c.3286G>T (p.Glu1096Ter)
 COSMIC
10g.75029176A>CCA377296777DUSP29,KAT6Bc.4352A>C (p.Glu1451Ala)
c.3803A>C (p.Glu1268Ala)
c.3476A>C (p.Glu1159Ala)
n.577-2582T>G
c.*3622-2582T>G (n.*3622-2582T>G)
c.4190A>C (p.Glu1397Ala)
c.3314A>C (p.Glu1105Ala)
c.2663A>C (p.Glu888Ala)
c.2267A>C (p.Glu756Ala)
c.2009A>C (p.Glu670Ala)
c.3287A>C (p.Glu1096Ala)
10g.75029176A>GCA377296778DUSP29,KAT6Bc.4352A>G (p.Glu1451Gly)
c.3803A>G (p.Glu1268Gly)
c.3476A>G (p.Glu1159Gly)
n.577-2582T>C
c.*3622-2582T>C (n.*3622-2582T>C)
c.4190A>G (p.Glu1397Gly)
c.3314A>G (p.Glu1105Gly)
c.2663A>G (p.Glu888Gly)
c.2267A>G (p.Glu756Gly)
c.2009A>G (p.Glu670Gly)
c.3287A>G (p.Glu1096Gly)
10g.75029176A>TCA377296779DUSP29,KAT6Bc.4352A>T (p.Glu1451Val)
c.3803A>T (p.Glu1268Val)
c.3476A>T (p.Glu1159Val)
n.577-2582T>A
c.*3622-2582T>A (n.*3622-2582T>A)
c.4190A>T (p.Glu1397Val)
c.3314A>T (p.Glu1105Val)
c.2663A>T (p.Glu888Val)
c.2267A>T (p.Glu756Val)
c.2009A>T (p.Glu670Val)
c.3287A>T (p.Glu1096Val)
10g.75029177A=CA1920306631DUSP29,KAT6Bc.4353A= (p.Glu1451=)
c.3804A= (p.Glu1268=)
c.3477A= (p.Glu1159=)
n.577-2583T=
c.*3622-2583T= (n.*3622-2583T=)
c.4191A= (p.Glu1397=)
c.3315A= (p.Glu1105=)
c.2664A= (p.Glu888=)
c.2268A= (p.Glu756=)
c.2010A= (p.Glu670=)
c.3288A= (p.Glu1096=)
10g.75029177A>CCA377296780DUSP29,KAT6Bc.4353A>C (p.Glu1451Asp)
c.3804A>C (p.Glu1268Asp)
c.3477A>C (p.Glu1159Asp)
n.577-2583T>G
c.*3622-2583T>G (n.*3622-2583T>G)
c.4191A>C (p.Glu1397Asp)
c.3315A>C (p.Glu1105Asp)
c.2664A>C (p.Glu888Asp)
c.2268A>C (p.Glu756Asp)
c.2010A>C (p.Glu670Asp)
c.3288A>C (p.Glu1096Asp)
 dbSNP gnomAD v3 gnomAD v4
10g.75029177A>GCA470300303DUSP29,KAT6Bc.4353A>G (p.Glu1451=)
c.3804A>G (p.Glu1268=)
c.3477A>G (p.Glu1159=)
n.577-2583T>C
c.*3622-2583T>C (n.*3622-2583T>C)
c.4191A>G (p.Glu1397=)
c.3315A>G (p.Glu1105=)
c.2664A>G (p.Glu888=)
c.2268A>G (p.Glu756=)
c.2010A>G (p.Glu670=)
c.3288A>G (p.Glu1096=)
10g.75029177A>TCA377296781DUSP29,KAT6Bc.4353A>T (p.Glu1451Asp)
c.3804A>T (p.Glu1268Asp)
c.3477A>T (p.Glu1159Asp)
n.577-2583T>A
c.*3622-2583T>A (n.*3622-2583T>A)
c.4191A>T (p.Glu1397Asp)
c.3315A>T (p.Glu1105Asp)
c.2664A>T (p.Glu888Asp)
c.2268A>T (p.Glu756Asp)
c.2010A>T (p.Glu670Asp)
c.3288A>T (p.Glu1096Asp)
10g.75029178G>ACA377296782DUSP29,KAT6Bc.4354G>A (p.Val1452Ile)
c.3805G>A (p.Val1269Ile)
c.3478G>A (p.Val1160Ile)
n.577-2584C>T
c.*3622-2584C>T (n.*3622-2584C>T)
c.4192G>A (p.Val1398Ile)
c.3316G>A (p.Val1106Ile)
c.2665G>A (p.Val889Ile)
c.2269G>A (p.Val757Ile)
c.2011G>A (p.Val671Ile)
c.3289G>A (p.Val1097Ile)
10g.75029178G>CCA377296783DUSP29,KAT6Bc.4354G>C (p.Val1452Leu)
c.3805G>C (p.Val1269Leu)
c.3478G>C (p.Val1160Leu)
n.577-2584C>G
c.*3622-2584C>G (n.*3622-2584C>G)
c.4192G>C (p.Val1398Leu)
c.3316G>C (p.Val1106Leu)
c.2665G>C (p.Val889Leu)
c.2269G>C (p.Val757Leu)
c.2011G>C (p.Val671Leu)
c.3289G>C (p.Val1097Leu)
10g.75029178G>TCA377296784DUSP29,KAT6Bc.4354G>T (p.Val1452Leu)
c.3805G>T (p.Val1269Leu)
c.3478G>T (p.Val1160Leu)
n.577-2584C>A
c.*3622-2584C>A (n.*3622-2584C>A)
c.4192G>T (p.Val1398Leu)
c.3316G>T (p.Val1106Leu)
c.2665G>T (p.Val889Leu)
c.2269G>T (p.Val757Leu)
c.2011G>T (p.Val671Leu)
c.3289G>T (p.Val1097Leu)
10g.75029179T>ACA377296785DUSP29,KAT6Bc.4355T>A (p.Val1452Glu)
c.3806T>A (p.Val1269Glu)
c.3479T>A (p.Val1160Glu)
n.577-2585A>T
c.*3622-2585A>T (n.*3622-2585A>T)
c.4193T>A (p.Val1398Glu)
c.3317T>A (p.Val1106Glu)
c.2666T>A (p.Val889Glu)
c.2270T>A (p.Val757Glu)
c.2012T>A (p.Val671Glu)
c.3290T>A (p.Val1097Glu)
10g.75029179T>CCA377296786DUSP29,KAT6Bc.4355T>C (p.Val1452Ala)
c.3806T>C (p.Val1269Ala)
c.3479T>C (p.Val1160Ala)
n.577-2585A>G
c.*3622-2585A>G (n.*3622-2585A>G)
c.4193T>C (p.Val1398Ala)
c.3317T>C (p.Val1106Ala)
c.2666T>C (p.Val889Ala)
c.2270T>C (p.Val757Ala)
c.2012T>C (p.Val671Ala)
c.3290T>C (p.Val1097Ala)
10g.75029179T>GCA377296787DUSP29,KAT6Bc.4355T>G (p.Val1452Gly)
c.3806T>G (p.Val1269Gly)
c.3479T>G (p.Val1160Gly)
n.577-2585A>C
c.*3622-2585A>C (n.*3622-2585A>C)
c.4193T>G (p.Val1398Gly)
c.3317T>G (p.Val1106Gly)
c.2666T>G (p.Val889Gly)
c.2270T>G (p.Val757Gly)
c.2012T>G (p.Val671Gly)
c.3290T>G (p.Val1097Gly)
10g.75029180A>CCA470300308DUSP29,KAT6Bc.4356A>C (p.Val1452=)
c.3807A>C (p.Val1269=)
c.3480A>C (p.Val1160=)
n.577-2586T>G
c.*3622-2586T>G (n.*3622-2586T>G)
c.4194A>C (p.Val1398=)
c.3318A>C (p.Val1106=)
c.2667A>C (p.Val889=)
c.2271A>C (p.Val757=)
c.2013A>C (p.Val671=)
c.3291A>C (p.Val1097=)
10g.75029180A>GCA470300309DUSP29,KAT6Bc.4356A>G (p.Val1452=)
c.3807A>G (p.Val1269=)
c.3480A>G (p.Val1160=)
n.577-2586T>C
c.*3622-2586T>C (n.*3622-2586T>C)
c.4194A>G (p.Val1398=)
c.3318A>G (p.Val1106=)
c.2667A>G (p.Val889=)
c.2271A>G (p.Val757=)
c.2013A>G (p.Val671=)
c.3291A>G (p.Val1097=)
10g.75029180A>TCA470300311DUSP29,KAT6Bc.4356A>T (p.Val1452=)
c.3807A>T (p.Val1269=)
c.3480A>T (p.Val1160=)
n.577-2586T>A
c.*3622-2586T>A (n.*3622-2586T>A)
c.4194A>T (p.Val1398=)
c.3318A>T (p.Val1106=)
c.2667A>T (p.Val889=)
c.2271A>T (p.Val757=)
c.2013A>T (p.Val671=)
c.3291A>T (p.Val1097=)
10g.75029181C>ACA377296788DUSP29,KAT6Bc.4357C>A (p.Leu1453Met)
c.3808C>A (p.Leu1270Met)
c.3481C>A (p.Leu1161Met)
n.577-2587G>T
c.*3622-2587G>T (n.*3622-2587G>T)
c.4195C>A (p.Leu1399Met)
c.3319C>A (p.Leu1107Met)
c.2668C>A (p.Leu890Met)
c.2272C>A (p.Leu758Met)
c.2014C>A (p.Leu672Met)
c.3292C>A (p.Leu1098Met)
10g.75029181C=CA1920306632DUSP29,KAT6Bc.4357C= (p.Leu1453=)
c.3808C= (p.Leu1270=)
c.3481C= (p.Leu1161=)
n.577-2587G=
c.*3622-2587G= (n.*3622-2587G=)
c.4195C= (p.Leu1399=)
c.3319C= (p.Leu1107=)
c.2668C= (p.Leu890=)
c.2272C= (p.Leu758=)
c.2014C= (p.Leu672=)
c.3292C= (p.Leu1098=)
10g.75029181C>GCA377296789DUSP29,KAT6Bc.4357C>G (p.Leu1453Val)
c.3808C>G (p.Leu1270Val)
c.3481C>G (p.Leu1161Val)
n.577-2587G>C
c.*3622-2587G>C (n.*3622-2587G>C)
c.4195C>G (p.Leu1399Val)
c.3319C>G (p.Leu1107Val)
c.2668C>G (p.Leu890Val)
c.2272C>G (p.Leu758Val)
c.2014C>G (p.Leu672Val)
c.3292C>G (p.Leu1098Val)
10g.75029181C>TCA209709804DUSP29,KAT6Bc.4357C>T (p.Leu1453=)
c.3808C>T (p.Leu1270=)
c.3481C>T (p.Leu1161=)
n.577-2587G>A
c.*3622-2587G>A (n.*3622-2587G>A)
c.4195C>T (p.Leu1399=)
c.3319C>T (p.Leu1107=)
c.2668C>T (p.Leu890=)
c.2272C>T (p.Leu758=)
c.2014C>T (p.Leu672=)
c.3292C>T (p.Leu1098=)
 ClinVar dbSNP gnomAD v4
10g.75029182T>ACA377296790DUSP29,KAT6Bc.4358T>A (p.Leu1453Gln)
c.3809T>A (p.Leu1270Gln)
c.3482T>A (p.Leu1161Gln)
n.577-2588A>T
c.*3622-2588A>T (n.*3622-2588A>T)
c.4196T>A (p.Leu1399Gln)
c.3320T>A (p.Leu1107Gln)
c.2669T>A (p.Leu890Gln)
c.2273T>A (p.Leu758Gln)
c.2015T>A (p.Leu672Gln)
c.3293T>A (p.Leu1098Gln)
10g.75029182T>CCA377296791DUSP29,KAT6Bc.4358T>C (p.Leu1453Pro)
c.3809T>C (p.Leu1270Pro)
c.3482T>C (p.Leu1161Pro)
n.577-2588A>G
c.*3622-2588A>G (n.*3622-2588A>G)
c.4196T>C (p.Leu1399Pro)
c.3320T>C (p.Leu1107Pro)
c.2669T>C (p.Leu890Pro)
c.2273T>C (p.Leu758Pro)
c.2015T>C (p.Leu672Pro)
c.3293T>C (p.Leu1098Pro)
10g.75029182T>GCA377296792DUSP29,KAT6Bc.4358T>G (p.Leu1453Arg)
c.3809T>G (p.Leu1270Arg)
c.3482T>G (p.Leu1161Arg)
n.577-2588A>C
c.*3622-2588A>C (n.*3622-2588A>C)
c.4196T>G (p.Leu1399Arg)
c.3320T>G (p.Leu1107Arg)
c.2669T>G (p.Leu890Arg)
c.2273T>G (p.Leu758Arg)
c.2015T>G (p.Leu672Arg)
c.3293T>G (p.Leu1098Arg)
10g.75029183G>ACA470300316DUSP29,KAT6Bc.4359G>A (p.Leu1453=)
c.3810G>A (p.Leu1270=)
c.3483G>A (p.Leu1161=)
n.577-2589C>T
c.*3622-2589C>T (n.*3622-2589C>T)
c.4197G>A (p.Leu1399=)
c.3321G>A (p.Leu1107=)
c.2670G>A (p.Leu890=)
c.2274G>A (p.Leu758=)
c.2016G>A (p.Leu672=)
c.3294G>A (p.Leu1098=)
10g.75029183G>CCA470300318DUSP29,KAT6Bc.4359G>C (p.Leu1453=)
c.3810G>C (p.Leu1270=)
c.3483G>C (p.Leu1161=)
n.577-2589C>G
c.*3622-2589C>G (n.*3622-2589C>G)
c.4197G>C (p.Leu1399=)
c.3321G>C (p.Leu1107=)
c.2670G>C (p.Leu890=)
c.2274G>C (p.Leu758=)
c.2016G>C (p.Leu672=)
c.3294G>C (p.Leu1098=)
10g.75029183G>TCA470300317DUSP29,KAT6Bc.4359G>T (p.Leu1453=)
c.3810G>T (p.Leu1270=)
c.3483G>T (p.Leu1161=)
n.577-2589C>A
c.*3622-2589C>A (n.*3622-2589C>A)
c.4197G>T (p.Leu1399=)
c.3321G>T (p.Leu1107=)
c.2670G>T (p.Leu890=)
c.2274G>T (p.Leu758=)
c.2016G>T (p.Leu672=)
c.3294G>T (p.Leu1098=)
10g.75029183_75029192delinsGGAAAACCAGCA1920306633DUSP29,KAT6Bc.4359_4368delinsGGAAAACCAG (p.Leu1453=)
c.3810_3819delinsGGAAAACCAG (p.Leu1270=)
c.3483_3492delinsGGAAAACCAG (p.Leu1161=)
n.577-2598_577-2589delinsCTGGTTTTCC
c.*3622-2598_*3622-2589delinsCTGGTTTTCC (n.*3622-2598_*3622-2589delinsCTGGTTTTCC)
c.4197_4206delinsGGAAAACCAG (p.Leu1399=)
c.3321_3330delinsGGAAAACCAG (p.Leu1107=)
c.2670_2679delinsGGAAAACCAG (p.Leu890=)
c.2274_2283delinsGGAAAACCAG (p.Leu758=)
c.2016_2025delinsGGAAAACCAG (p.Leu672=)
c.3294_3303delinsGGAAAACCAG (p.Leu1098=)
10g.75029184G>ACA377296794DUSP29,KAT6Bc.4360G>A (p.Glu1454Lys)
c.3811G>A (p.Glu1271Lys)
c.3484G>A (p.Glu1162Lys)
n.577-2590C>T
c.*3622-2590C>T (n.*3622-2590C>T)
c.4198G>A (p.Glu1400Lys)
c.3322G>A (p.Glu1108Lys)
c.2671G>A (p.Glu891Lys)
c.2275G>A (p.Glu759Lys)
c.2017G>A (p.Glu673Lys)
c.3295G>A (p.Glu1099Lys)
10g.75029184G>CCA377296793DUSP29,KAT6Bc.4360G>C (p.Glu1454Gln)
c.3811G>C (p.Glu1271Gln)
c.3484G>C (p.Glu1162Gln)
n.577-2590C>G
c.*3622-2590C>G (n.*3622-2590C>G)
c.4198G>C (p.Glu1400Gln)
c.3322G>C (p.Glu1108Gln)
c.2671G>C (p.Glu891Gln)
c.2275G>C (p.Glu759Gln)
c.2017G>C (p.Glu673Gln)
c.3295G>C (p.Glu1099Gln)
10g.75029184G>TCA377296795DUSP29,KAT6Bc.4360G>T (p.Glu1454Ter)
c.3811G>T (p.Glu1271Ter)
c.3484G>T (p.Glu1162Ter)
n.577-2590C>A
c.*3622-2590C>A (n.*3622-2590C>A)
c.4198G>T (p.Glu1400Ter)
c.3322G>T (p.Glu1108Ter)
c.2671G>T (p.Glu891Ter)
c.2275G>T (p.Glu759Ter)
c.2017G>T (p.Glu673Ter)
c.3295G>T (p.Glu1099Ter)
10g.75029184_75029192delinsAAAAACCAAAACA129314DUSP29,KAT6Bc.4360_4368delinsAAAAACCAAAA (p.Glu1454LysfsTer8)
c.3811_3819delinsAAAAACCAAAA (p.Glu1271LysfsTer8)
c.3484_3492delinsAAAAACCAAAA (p.Glu1162LysfsTer8)
n.577-2598_577-2590delinsTTTTGGTTTTT
c.*3622-2598_*3622-2590delinsTTTTGGTTTTT (n.*3622-2598_*3622-2590delinsTTTTGGTTTTT)
c.4198_4206delinsAAAAACCAAAA (p.Glu1400LysfsTer8)
c.3322_3330delinsAAAAACCAAAA (p.Glu1108LysfsTer8)
c.2671_2679delinsAAAAACCAAAA (p.Glu891LysfsTer8)
c.2275_2283delinsAAAAACCAAAA (p.Glu759LysfsTer8)
c.2017_2025delinsAAAAACCAAAA (p.Glu673LysfsTer8)
c.3295_3303delinsAAAAACCAAAA (p.Glu1099LysfsTer8)
 ClinVar dbSNP
10g.75029185A>CCA377296797DUSP29,KAT6Bc.4361A>C (p.Glu1454Ala)
c.3812A>C (p.Glu1271Ala)
c.3485A>C (p.Glu1162Ala)
n.577-2591T>G
c.*3622-2591T>G (n.*3622-2591T>G)
c.4199A>C (p.Glu1400Ala)
c.3323A>C (p.Glu1108Ala)
c.2672A>C (p.Glu891Ala)
c.2276A>C (p.Glu759Ala)
c.2018A>C (p.Glu673Ala)
c.3296A>C (p.Glu1099Ala)
10g.75029185A>GCA377296796DUSP29,KAT6Bc.4361A>G (p.Glu1454Gly)
c.3812A>G (p.Glu1271Gly)
c.3485A>G (p.Glu1162Gly)
n.577-2591T>C
c.*3622-2591T>C (n.*3622-2591T>C)
c.4199A>G (p.Glu1400Gly)
c.3323A>G (p.Glu1108Gly)
c.2672A>G (p.Glu891Gly)
c.2276A>G (p.Glu759Gly)
c.2018A>G (p.Glu673Gly)
c.3296A>G (p.Glu1099Gly)
10g.75029185A>TCA377296798DUSP29,KAT6Bc.4361A>T (p.Glu1454Val)
c.3812A>T (p.Glu1271Val)
c.3485A>T (p.Glu1162Val)
n.577-2591T>A
c.*3622-2591T>A (n.*3622-2591T>A)
c.4199A>T (p.Glu1400Val)
c.3323A>T (p.Glu1108Val)
c.2672A>T (p.Glu891Val)
c.2276A>T (p.Glu759Val)
c.2018A>T (p.Glu673Val)
c.3296A>T (p.Glu1099Val)
10g.75029186A>CCA377296799DUSP29,KAT6Bc.4362A>C (p.Glu1454Asp)
c.3813A>C (p.Glu1271Asp)
c.3486A>C (p.Glu1162Asp)
n.577-2592T>G
c.*3622-2592T>G (n.*3622-2592T>G)
c.4200A>C (p.Glu1400Asp)
c.3324A>C (p.Glu1108Asp)
c.2673A>C (p.Glu891Asp)
c.2277A>C (p.Glu759Asp)
c.2019A>C (p.Glu673Asp)
c.3297A>C (p.Glu1099Asp)
10g.75029186A>GCA470300326DUSP29,KAT6Bc.4362A>G (p.Glu1454=)
c.3813A>G (p.Glu1271=)
c.3486A>G (p.Glu1162=)
n.577-2592T>C
c.*3622-2592T>C (n.*3622-2592T>C)
c.4200A>G (p.Glu1400=)
c.3324A>G (p.Glu1108=)
c.2673A>G (p.Glu891=)
c.2277A>G (p.Glu759=)
c.2019A>G (p.Glu673=)
c.3297A>G (p.Glu1099=)
10g.75029186A>TCA377296800DUSP29,KAT6Bc.4362A>T (p.Glu1454Asp)
c.3813A>T (p.Glu1271Asp)
c.3486A>T (p.Glu1162Asp)
n.577-2592T>A
c.*3622-2592T>A (n.*3622-2592T>A)
c.4200A>T (p.Glu1400Asp)
c.3324A>T (p.Glu1108Asp)
c.2673A>T (p.Glu891Asp)
c.2277A>T (p.Glu759Asp)
c.2019A>T (p.Glu673Asp)
c.3297A>T (p.Glu1099Asp)
10g.75029187A>CCA377296801DUSP29,KAT6Bc.4363A>C (p.Asn1455His)
c.3814A>C (p.Asn1272His)
c.3487A>C (p.Asn1163His)
n.577-2593T>G
c.*3622-2593T>G (n.*3622-2593T>G)
c.4201A>C (p.Asn1401His)
c.3325A>C (p.Asn1109His)
c.2674A>C (p.Asn892His)
c.2278A>C (p.Asn760His)
c.2020A>C (p.Asn674His)
c.3298A>C (p.Asn1100His)
10g.75029187A>GCA377296802DUSP29,KAT6Bc.4363A>G (p.Asn1455Asp)
c.3814A>G (p.Asn1272Asp)
c.3487A>G (p.Asn1163Asp)
n.577-2593T>C
c.*3622-2593T>C (n.*3622-2593T>C)
c.4201A>G (p.Asn1401Asp)
c.3325A>G (p.Asn1109Asp)
c.2674A>G (p.Asn892Asp)
c.2278A>G (p.Asn760Asp)
c.2020A>G (p.Asn674Asp)
c.3298A>G (p.Asn1100Asp)
10g.75029187A>TCA377296803DUSP29,KAT6Bc.4363A>T (p.Asn1455Tyr)
c.3814A>T (p.Asn1272Tyr)
c.3487A>T (p.Asn1163Tyr)
n.577-2593T>A
c.*3622-2593T>A (n.*3622-2593T>A)
c.4201A>T (p.Asn1401Tyr)
c.3325A>T (p.Asn1109Tyr)
c.2674A>T (p.Asn892Tyr)
c.2278A>T (p.Asn760Tyr)
c.2020A>T (p.Asn674Tyr)
c.3298A>T (p.Asn1100Tyr)
10g.75029188A>CCA377296804DUSP29,KAT6Bc.4364A>C (p.Asn1455Thr)
c.3815A>C (p.Asn1272Thr)
c.3488A>C (p.Asn1163Thr)
n.577-2594T>G
c.*3622-2594T>G (n.*3622-2594T>G)
c.4202A>C (p.Asn1401Thr)
c.3326A>C (p.Asn1109Thr)
c.2675A>C (p.Asn892Thr)
c.2279A>C (p.Asn760Thr)
c.2021A>C (p.Asn674Thr)
c.3299A>C (p.Asn1100Thr)
10g.75029188A>GCA377296805DUSP29,KAT6Bc.4364A>G (p.Asn1455Ser)
c.3815A>G (p.Asn1272Ser)
c.3488A>G (p.Asn1163Ser)
n.577-2594T>C
c.*3622-2594T>C (n.*3622-2594T>C)
c.4202A>G (p.Asn1401Ser)
c.3326A>G (p.Asn1109Ser)
c.2675A>G (p.Asn892Ser)
c.2279A>G (p.Asn760Ser)
c.2021A>G (p.Asn674Ser)
c.3299A>G (p.Asn1100Ser)
10g.75029188A>TCA377296806DUSP29,KAT6Bc.4364A>T (p.Asn1455Ile)
c.3815A>T (p.Asn1272Ile)
c.3488A>T (p.Asn1163Ile)
n.577-2594T>A
c.*3622-2594T>A (n.*3622-2594T>A)
c.4202A>T (p.Asn1401Ile)
c.3326A>T (p.Asn1109Ile)
c.2675A>T (p.Asn892Ile)
c.2279A>T (p.Asn760Ile)
c.2021A>T (p.Asn674Ile)
c.3299A>T (p.Asn1100Ile)
10g.75029189C>ACA377296807DUSP29,KAT6Bc.4365C>A (p.Asn1455Lys)
c.3816C>A (p.Asn1272Lys)
c.3489C>A (p.Asn1163Lys)
n.577-2595G>T
c.*3622-2595G>T (n.*3622-2595G>T)
c.4203C>A (p.Asn1401Lys)
c.3327C>A (p.Asn1109Lys)
c.2676C>A (p.Asn892Lys)
c.2280C>A (p.Asn760Lys)
c.2022C>A (p.Asn674Lys)
c.3300C>A (p.Asn1100Lys)
10g.75029189C>GCA377296808DUSP29,KAT6Bc.4365C>G (p.Asn1455Lys)
c.3816C>G (p.Asn1272Lys)
c.3489C>G (p.Asn1163Lys)
n.577-2595G>C
c.*3622-2595G>C (n.*3622-2595G>C)
c.4203C>G (p.Asn1401Lys)
c.3327C>G (p.Asn1109Lys)
c.2676C>G (p.Asn892Lys)
c.2280C>G (p.Asn760Lys)
c.2022C>G (p.Asn674Lys)
c.3300C>G (p.Asn1100Lys)
10g.75029189C>TCA470300331DUSP29,KAT6Bc.4365C>T (p.Asn1455=)
c.3816C>T (p.Asn1272=)
c.3489C>T (p.Asn1163=)
n.577-2595G>A
c.*3622-2595G>A (n.*3622-2595G>A)
c.4203C>T (p.Asn1401=)
c.3327C>T (p.Asn1109=)
c.2676C>T (p.Asn892=)
c.2280C>T (p.Asn760=)
c.2022C>T (p.Asn674=)
c.3300C>T (p.Asn1100=)
10g.75029190C>ACA377296809DUSP29,KAT6Bc.4366C>A (p.Gln1456Lys)
c.3817C>A (p.Gln1273Lys)
c.3490C>A (p.Gln1164Lys)
n.577-2596G>T
c.*3622-2596G>T (n.*3622-2596G>T)
c.4204C>A (p.Gln1402Lys)
c.3328C>A (p.Gln1110Lys)
c.2677C>A (p.Gln893Lys)
c.2281C>A (p.Gln761Lys)
c.2023C>A (p.Gln675Lys)
c.3301C>A (p.Gln1101Lys)
10g.75029190C=CA1920306634DUSP29,KAT6Bc.4366C= (p.Gln1456=)
c.3817C= (p.Gln1273=)
c.3490C= (p.Gln1164=)
n.577-2596G=
c.*3622-2596G= (n.*3622-2596G=)
c.4204C= (p.Gln1402=)
c.3328C= (p.Gln1110=)
c.2677C= (p.Gln893=)
c.2281C= (p.Gln761=)
c.2023C= (p.Gln675=)
c.3301C= (p.Gln1101=)
10g.75029190C>GCA377296810DUSP29,KAT6Bc.4366C>G (p.Gln1456Glu)
c.3817C>G (p.Gln1273Glu)
c.3490C>G (p.Gln1164Glu)
n.577-2596G>C
c.*3622-2596G>C (n.*3622-2596G>C)
c.4204C>G (p.Gln1402Glu)
c.3328C>G (p.Gln1110Glu)
c.2677C>G (p.Gln893Glu)
c.2281C>G (p.Gln761Glu)
c.2023C>G (p.Gln675Glu)
c.3301C>G (p.Gln1101Glu)
10g.75029190C>TCA209709813DUSP29,KAT6Bc.4366C>T (p.Gln1456Ter)
c.3817C>T (p.Gln1273Ter)
c.3490C>T (p.Gln1164Ter)
n.577-2596G>A
c.*3622-2596G>A (n.*3622-2596G>A)
c.4204C>T (p.Gln1402Ter)
c.3328C>T (p.Gln1110Ter)
c.2677C>T (p.Gln893Ter)
c.2281C>T (p.Gln761Ter)
c.2023C>T (p.Gln675Ter)
c.3301C>T (p.Gln1101Ter)
 dbSNP COSMIC
10g.75029191A>CCA377296813DUSP29,KAT6Bc.4367A>C (p.Gln1456Pro)
c.3818A>C (p.Gln1273Pro)
c.3491A>C (p.Gln1164Pro)
n.577-2597T>G
c.*3622-2597T>G (n.*3622-2597T>G)
c.4205A>C (p.Gln1402Pro)
c.3329A>C (p.Gln1110Pro)
c.2678A>C (p.Gln893Pro)
c.2282A>C (p.Gln761Pro)
c.2024A>C (p.Gln675Pro)
c.3302A>C (p.Gln1101Pro)
10g.75029191A>GCA377296812DUSP29,KAT6Bc.4367A>G (p.Gln1456Arg)
c.3818A>G (p.Gln1273Arg)
c.3491A>G (p.Gln1164Arg)
n.577-2597T>C
c.*3622-2597T>C (n.*3622-2597T>C)
c.4205A>G (p.Gln1402Arg)
c.3329A>G (p.Gln1110Arg)
c.2678A>G (p.Gln893Arg)
c.2282A>G (p.Gln761Arg)
c.2024A>G (p.Gln675Arg)
c.3302A>G (p.Gln1101Arg)
 gnomAD v4
10g.75029191A>TCA377296811DUSP29,KAT6Bc.4367A>T (p.Gln1456Leu)
c.3818A>T (p.Gln1273Leu)
c.3491A>T (p.Gln1164Leu)
n.577-2597T>A
c.*3622-2597T>A (n.*3622-2597T>A)
c.4205A>T (p.Gln1402Leu)
c.3329A>T (p.Gln1110Leu)
c.2678A>T (p.Gln893Leu)
c.2282A>T (p.Gln761Leu)
c.2024A>T (p.Gln675Leu)
c.3302A>T (p.Gln1101Leu)
10g.75029192G>ACA470300335DUSP29,KAT6Bc.4368G>A (p.Gln1456=)
c.3819G>A (p.Gln1273=)
c.3492G>A (p.Gln1164=)
n.577-2598C>T
c.*3622-2598C>T (n.*3622-2598C>T)
c.4206G>A (p.Gln1402=)
c.3330G>A (p.Gln1110=)
c.2679G>A (p.Gln893=)
c.2283G>A (p.Gln761=)
c.2025G>A (p.Gln675=)
c.3303G>A (p.Gln1101=)
 dbSNP gnomAD v3 gnomAD v4
10g.75029192G>CCA377296814DUSP29,KAT6Bc.4368G>C (p.Gln1456His)
c.3819G>C (p.Gln1273His)
c.3492G>C (p.Gln1164His)
n.577-2598C>G
c.*3622-2598C>G (n.*3622-2598C>G)
c.4206G>C (p.Gln1402His)
c.3330G>C (p.Gln1110His)
c.2679G>C (p.Gln893His)
c.2283G>C (p.Gln761His)
c.2025G>C (p.Gln675His)
c.3303G>C (p.Gln1101His)
10g.75029192G=CA1920306635DUSP29,KAT6Bc.4368G= (p.Gln1456=)
c.3819G= (p.Gln1273=)
c.3492G= (p.Gln1164=)
n.577-2598C=
c.*3622-2598C= (n.*3622-2598C=)
c.4206G= (p.Gln1402=)
c.3330G= (p.Gln1110=)
c.2679G= (p.Gln893=)
c.2283G= (p.Gln761=)
c.2025G= (p.Gln675=)
c.3303G= (p.Gln1101=)
10g.75029192G>TCA377296815DUSP29,KAT6Bc.4368G>T (p.Gln1456His)
c.3819G>T (p.Gln1273His)
c.3492G>T (p.Gln1164His)
n.577-2598C>A
c.*3622-2598C>A (n.*3622-2598C>A)
c.4206G>T (p.Gln1402His)
c.3330G>T (p.Gln1110His)
c.2679G>T (p.Gln893His)
c.2283G>T (p.Gln761His)
c.2025G>T (p.Gln675His)
c.3303G>T (p.Gln1101His)
10g.75029192_75029193dupCA2695212208DUSP29,KAT6Bc.4368_4369dup (p.Glu1457GlyfsTer5)
c.3819_3820dup (p.Glu1274GlyfsTer5)
c.3492_3493dup (p.Glu1165GlyfsTer5)
n.577-2599_577-2598dup
c.*3622-2599_*3622-2598dup (n.*3622-2599_*3622-2598dup)
c.4206_4207dup (p.Glu1403GlyfsTer5)
c.3330_3331dup (p.Glu1111GlyfsTer5)
c.2679_2680dup (p.Glu894GlyfsTer5)
c.2283_2284dup (p.Glu762GlyfsTer5)
c.2025_2026dup (p.Glu676GlyfsTer5)
c.3303_3304dup (p.Glu1102GlyfsTer5)
10g.75029193G>ACA377296816DUSP29,KAT6Bc.4369G>A (p.Glu1457Lys)
c.3820G>A (p.Glu1274Lys)
c.3493G>A (p.Glu1165Lys)
n.577-2599C>T
c.*3622-2599C>T (n.*3622-2599C>T)
c.4207G>A (p.Glu1403Lys)
c.3331G>A (p.Glu1111Lys)
c.2680G>A (p.Glu894Lys)
c.2284G>A (p.Glu762Lys)
c.2026G>A (p.Glu676Lys)
c.3304G>A (p.Glu1102Lys)
10g.75029193G>CCA377296817DUSP29,KAT6Bc.4369G>C (p.Glu1457Gln)
c.3820G>C (p.Glu1274Gln)
c.3493G>C (p.Glu1165Gln)
n.577-2599C>G
c.*3622-2599C>G (n.*3622-2599C>G)
c.4207G>C (p.Glu1403Gln)
c.3331G>C (p.Glu1111Gln)
c.2680G>C (p.Glu894Gln)
c.2284G>C (p.Glu762Gln)
c.2026G>C (p.Glu676Gln)
c.3304G>C (p.Glu1102Gln)
10g.75029193G>TCA377296818DUSP29,KAT6Bc.4369G>T (p.Glu1457Ter)
c.3820G>T (p.Glu1274Ter)
c.3493G>T (p.Glu1165Ter)
n.577-2599C>A
c.*3622-2599C>A (n.*3622-2599C>A)
c.4207G>T (p.Glu1403Ter)
c.3331G>T (p.Glu1111Ter)
c.2680G>T (p.Glu894Ter)
c.2284G>T (p.Glu762Ter)
c.2026G>T (p.Glu676Ter)
c.3304G>T (p.Glu1102Ter)
10g.75029194A>CCA377296819DUSP29,KAT6Bc.4370A>C (p.Glu1457Ala)
c.3821A>C (p.Glu1274Ala)
c.3494A>C (p.Glu1165Ala)
n.577-2600T>G
c.*3622-2600T>G (n.*3622-2600T>G)
c.4208A>C (p.Glu1403Ala)
c.3332A>C (p.Glu1111Ala)
c.2681A>C (p.Glu894Ala)
c.2285A>C (p.Glu762Ala)
c.2027A>C (p.Glu676Ala)
c.3305A>C (p.Glu1102Ala)
10g.75029194A>GCA377296820DUSP29,KAT6Bc.4370A>G (p.Glu1457Gly)
c.3821A>G (p.Glu1274Gly)
c.3494A>G (p.Glu1165Gly)
n.577-2600T>C
c.*3622-2600T>C (n.*3622-2600T>C)
c.4208A>G (p.Glu1403Gly)
c.3332A>G (p.Glu1111Gly)
c.2681A>G (p.Glu894Gly)
c.2285A>G (p.Glu762Gly)
c.2027A>G (p.Glu676Gly)
c.3305A>G (p.Glu1102Gly)
10g.75029194A>TCA377296821DUSP29,KAT6Bc.4370A>T (p.Glu1457Val)
c.3821A>T (p.Glu1274Val)
c.3494A>T (p.Glu1165Val)
n.577-2600T>A
c.*3622-2600T>A (n.*3622-2600T>A)
c.4208A>T (p.Glu1403Val)
c.3332A>T (p.Glu1111Val)
c.2681A>T (p.Glu894Val)
c.2285A>T (p.Glu762Val)
c.2027A>T (p.Glu676Val)
c.3305A>T (p.Glu1102Val)
10g.75029195G>ACA470300338DUSP29,KAT6Bc.4371G>A (p.Glu1457=)
c.3822G>A (p.Glu1274=)
c.3495G>A (p.Glu1165=)
n.577-2601C>T
c.*3622-2601C>T (n.*3622-2601C>T)
c.4209G>A (p.Glu1403=)
c.3333G>A (p.Glu1111=)
c.2682G>A (p.Glu894=)
c.2286G>A (p.Glu762=)
c.2028G>A (p.Glu676=)
c.3306G>A (p.Glu1102=)
10g.75029195G>CCA377296822DUSP29,KAT6Bc.4371G>C (p.Glu1457Asp)
c.3822G>C (p.Glu1274Asp)
c.3495G>C (p.Glu1165Asp)
n.577-2601C>G
c.*3622-2601C>G (n.*3622-2601C>G)
c.4209G>C (p.Glu1403Asp)
c.3333G>C (p.Glu1111Asp)
c.2682G>C (p.Glu894Asp)
c.2286G>C (p.Glu762Asp)
c.2028G>C (p.Glu676Asp)
c.3306G>C (p.Glu1102Asp)
10g.75029195G>TCA377296823DUSP29,KAT6Bc.4371G>T (p.Glu1457Asp)
c.3822G>T (p.Glu1274Asp)
c.3495G>T (p.Glu1165Asp)
n.577-2601C>A
c.*3622-2601C>A (n.*3622-2601C>A)
c.4209G>T (p.Glu1403Asp)
c.3333G>T (p.Glu1111Asp)
c.2682G>T (p.Glu894Asp)
c.2286G>T (p.Glu762Asp)
c.2028G>T (p.Glu676Asp)
c.3306G>T (p.Glu1102Asp)
10g.75029196A>CCA377296824DUSP29,KAT6Bc.4372A>C (p.Thr1458Pro)
c.3823A>C (p.Thr1275Pro)
c.3496A>C (p.Thr1166Pro)
n.577-2602T>G
c.*3622-2602T>G (n.*3622-2602T>G)
c.4210A>C (p.Thr1404Pro)
c.3334A>C (p.Thr1112Pro)
c.2683A>C (p.Thr895Pro)
c.2287A>C (p.Thr763Pro)
c.2029A>C (p.Thr677Pro)
c.3307A>C (p.Thr1103Pro)
10g.75029196A>GCA377296825DUSP29,KAT6Bc.4372A>G (p.Thr1458Ala)
c.3823A>G (p.Thr1275Ala)
c.3496A>G (p.Thr1166Ala)
n.577-2602T>C
c.*3622-2602T>C (n.*3622-2602T>C)
c.4210A>G (p.Thr1404Ala)
c.3334A>G (p.Thr1112Ala)
c.2683A>G (p.Thr895Ala)
c.2287A>G (p.Thr763Ala)
c.2029A>G (p.Thr677Ala)
c.3307A>G (p.Thr1103Ala)
 ClinVar
10g.75029196A>TCA377296826DUSP29,KAT6Bc.4372A>T (p.Thr1458Ser)
c.3823A>T (p.Thr1275Ser)
c.3496A>T (p.Thr1166Ser)
n.577-2602T>A
c.*3622-2602T>A (n.*3622-2602T>A)
c.4210A>T (p.Thr1404Ser)
c.3334A>T (p.Thr1112Ser)
c.2683A>T (p.Thr895Ser)
c.2287A>T (p.Thr763Ser)
c.2029A>T (p.Thr677Ser)
c.3307A>T (p.Thr1103Ser)
10g.75029197delCA2695212209DUSP29,KAT6Bc.4373del (p.Thr1458IlefsTer3)
c.3824del (p.Thr1275IlefsTer3)
c.3497del (p.Thr1166IlefsTer3)
n.577-2603del
c.*3622-2603del (n.*3622-2603del)
c.4211del (p.Thr1404IlefsTer3)
c.3335del (p.Thr1112IlefsTer3)
c.2684del (p.Thr895IlefsTer3)
c.2288del (p.Thr763IlefsTer3)
c.2030del (p.Thr677IlefsTer3)
c.3308del (p.Thr1103IlefsTer3)
10g.75029197C>ACA377296828DUSP29,KAT6Bc.4373C>A (p.Thr1458Asn)
c.3824C>A (p.Thr1275Asn)
c.3497C>A (p.Thr1166Asn)
n.577-2603G>T
c.*3622-2603G>T (n.*3622-2603G>T)
c.4211C>A (p.Thr1404Asn)
c.3335C>A (p.Thr1112Asn)
c.2684C>A (p.Thr895Asn)
c.2288C>A (p.Thr763Asn)
c.2030C>A (p.Thr677Asn)
c.3308C>A (p.Thr1103Asn)
10g.75029197C>GCA377296829DUSP29,KAT6Bc.4373C>G (p.Thr1458Ser)
c.3824C>G (p.Thr1275Ser)
c.3497C>G (p.Thr1166Ser)
n.577-2603G>C
c.*3622-2603G>C (n.*3622-2603G>C)
c.4211C>G (p.Thr1404Ser)
c.3335C>G (p.Thr1112Ser)
c.2684C>G (p.Thr895Ser)
c.2288C>G (p.Thr763Ser)
c.2030C>G (p.Thr677Ser)
c.3308C>G (p.Thr1103Ser)
10g.75029197C>TCA377296827DUSP29,KAT6Bc.4373C>T (p.Thr1458Ile)
c.3824C>T (p.Thr1275Ile)
c.3497C>T (p.Thr1166Ile)
n.577-2603G>A
c.*3622-2603G>A (n.*3622-2603G>A)
c.4211C>T (p.Thr1404Ile)
c.3335C>T (p.Thr1112Ile)
c.2684C>T (p.Thr895Ile)
c.2288C>T (p.Thr763Ile)
c.2030C>T (p.Thr677Ile)
c.3308C>T (p.Thr1103Ile)
10g.75029197_75029198delinsCTCA1920306636DUSP29,KAT6Bc.4373_4374delinsCT (p.Thr1458=)
c.3824_3825delinsCT (p.Thr1275=)
c.3497_3498delinsCT (p.Thr1166=)
n.577-2604_577-2603delinsAG
c.*3622-2604_*3622-2603delinsAG (n.*3622-2604_*3622-2603delinsAG)
c.4211_4212delinsCT (p.Thr1404=)
c.3335_3336delinsCT (p.Thr1112=)
c.2684_2685delinsCT (p.Thr895=)
c.2288_2289delinsCT (p.Thr763=)
c.2030_2031delinsCT (p.Thr677=)
c.3308_3309delinsCT (p.Thr1103=)
10g.75029198T>ACA470300346DUSP29,KAT6Bc.4374T>A (p.Thr1458=)
c.3825T>A (p.Thr1275=)
c.3498T>A (p.Thr1166=)
n.577-2604A>T
c.*3622-2604A>T (n.*3622-2604A>T)
c.4212T>A (p.Thr1404=)
c.3336T>A (p.Thr1112=)
c.2685T>A (p.Thr895=)
c.2289T>A (p.Thr763=)
c.2031T>A (p.Thr677=)
c.3309T>A (p.Thr1103=)
 gnomAD v4
10g.75029198T>CCA470300351DUSP29,KAT6Bc.4374T>C (p.Thr1458=)
c.3825T>C (p.Thr1275=)
c.3498T>C (p.Thr1166=)
n.577-2604A>G
c.*3622-2604A>G (n.*3622-2604A>G)
c.4212T>C (p.Thr1404=)
c.3336T>C (p.Thr1112=)
c.2685T>C (p.Thr895=)
c.2289T>C (p.Thr763=)
c.2031T>C (p.Thr677=)
c.3309T>C (p.Thr1103=)
10g.75029198T>GCA470300350DUSP29,KAT6Bc.4374T>G (p.Thr1458=)
c.3825T>G (p.Thr1275=)
c.3498T>G (p.Thr1166=)
n.577-2604A>C
c.*3622-2604A>C (n.*3622-2604A>C)
c.4212T>G (p.Thr1404=)
c.3336T>G (p.Thr1112=)
c.2685T>G (p.Thr895=)
c.2289T>G (p.Thr763=)
c.2031T>G (p.Thr677=)
c.3309T>G (p.Thr1103=)
10g.75029203delCA16042713DUSP29,KAT6Bc.4379del (p.Leu1460Ter)
c.3830del (p.Leu1277Ter)
c.3503del (p.Leu1168Ter)
n.577-2604del
c.*3622-2604del (n.*3622-2604del)
c.4217del (p.Leu1406Ter)
c.3341del (p.Leu1114Ter)
c.2690del (p.Leu897Ter)
c.2294del (p.Leu765Ter)
c.2036del (p.Leu679Ter)
c.3314del (p.Leu1105Ter)
 ClinVar dbSNP COSMIC
10g.75029199T>ACA377296830DUSP29,KAT6Bc.4375T>A (p.Phe1459Ile)
c.3826T>A (p.Phe1276Ile)
c.3499T>A (p.Phe1167Ile)
n.577-2605A>T
c.*3622-2605A>T (n.*3622-2605A>T)
c.4213T>A (p.Phe1405Ile)
c.3337T>A (p.Phe1113Ile)
c.2686T>A (p.Phe896Ile)
c.2290T>A (p.Phe764Ile)
c.2032T>A (p.Phe678Ile)
c.3310T>A (p.Phe1104Ile)
10g.75029199T>CCA377296831DUSP29,KAT6Bc.4375T>C (p.Phe1459Leu)
c.3826T>C (p.Phe1276Leu)
c.3499T>C (p.Phe1167Leu)
n.577-2605A>G
c.*3622-2605A>G (n.*3622-2605A>G)
c.4213T>C (p.Phe1405Leu)
c.3337T>C (p.Phe1113Leu)
c.2686T>C (p.Phe896Leu)
c.2290T>C (p.Phe764Leu)
c.2032T>C (p.Phe678Leu)
c.3310T>C (p.Phe1104Leu)
10g.75029199T>GCA377296832DUSP29,KAT6Bc.4375T>G (p.Phe1459Val)
c.3826T>G (p.Phe1276Val)
c.3499T>G (p.Phe1167Val)
n.577-2605A>C
c.*3622-2605A>C (n.*3622-2605A>C)
c.4213T>G (p.Phe1405Val)
c.3337T>G (p.Phe1113Val)
c.2686T>G (p.Phe896Val)
c.2290T>G (p.Phe764Val)
c.2032T>G (p.Phe678Val)
c.3310T>G (p.Phe1104Val)
10g.75029200T>ACA377296833DUSP29,KAT6Bc.4376T>A (p.Phe1459Tyr)
c.3827T>A (p.Phe1276Tyr)
c.3500T>A (p.Phe1167Tyr)
n.577-2606A>T
c.*3622-2606A>T (n.*3622-2606A>T)
c.4214T>A (p.Phe1405Tyr)
c.3338T>A (p.Phe1113Tyr)
c.2687T>A (p.Phe896Tyr)
c.2291T>A (p.Phe764Tyr)
c.2033T>A (p.Phe678Tyr)
c.3311T>A (p.Phe1104Tyr)
10g.75029200T>CCA377296834DUSP29,KAT6Bc.4376T>C (p.Phe1459Ser)
c.3827T>C (p.Phe1276Ser)
c.3500T>C (p.Phe1167Ser)
n.577-2606A>G
c.*3622-2606A>G (n.*3622-2606A>G)
c.4214T>C (p.Phe1405Ser)
c.3338T>C (p.Phe1113Ser)
c.2687T>C (p.Phe896Ser)
c.2291T>C (p.Phe764Ser)
c.2033T>C (p.Phe678Ser)
c.3311T>C (p.Phe1104Ser)
 ClinVar dbSNP
10g.75029200T>GCA377296835DUSP29,KAT6Bc.4376T>G (p.Phe1459Cys)
c.3827T>G (p.Phe1276Cys)
c.3500T>G (p.Phe1167Cys)
n.577-2606A>C
c.*3622-2606A>C (n.*3622-2606A>C)
c.4214T>G (p.Phe1405Cys)
c.3338T>G (p.Phe1113Cys)
c.2687T>G (p.Phe896Cys)
c.2291T>G (p.Phe764Cys)
c.2033T>G (p.Phe678Cys)
c.3311T>G (p.Phe1104Cys)
10g.75029200T=CA1920306637DUSP29,KAT6Bc.4376T= (p.Phe1459=)
c.3827T= (p.Phe1276=)
c.3500T= (p.Phe1167=)
n.577-2606A=
c.*3622-2606A= (n.*3622-2606A=)
c.4214T= (p.Phe1405=)
c.3338T= (p.Phe1113=)
c.2687T= (p.Phe896=)
c.2291T= (p.Phe764=)
c.2033T= (p.Phe678=)
c.3311T= (p.Phe1104=)
10g.75029201T>ACA377296836DUSP29,KAT6Bc.4377T>A (p.Phe1459Leu)
c.3828T>A (p.Phe1276Leu)
c.3501T>A (p.Phe1167Leu)
n.577-2607A>T
c.*3622-2607A>T (n.*3622-2607A>T)
c.4215T>A (p.Phe1405Leu)
c.3339T>A (p.Phe1113Leu)
c.2688T>A (p.Phe896Leu)
c.2292T>A (p.Phe764Leu)
c.2034T>A (p.Phe678Leu)
c.3312T>A (p.Phe1104Leu)
10g.75029201T>CCA470300356DUSP29,KAT6Bc.4377T>C (p.Phe1459=)
c.3828T>C (p.Phe1276=)
c.3501T>C (p.Phe1167=)
n.577-2607A>G
c.*3622-2607A>G (n.*3622-2607A>G)
c.4215T>C (p.Phe1405=)
c.3339T>C (p.Phe1113=)
c.2688T>C (p.Phe896=)
c.2292T>C (p.Phe764=)
c.2034T>C (p.Phe678=)
c.3312T>C (p.Phe1104=)
 gnomAD v4
10g.75029201T>GCA377296837DUSP29,KAT6Bc.4377T>G (p.Phe1459Leu)
c.3828T>G (p.Phe1276Leu)
c.3501T>G (p.Phe1167Leu)
n.577-2607A>C
c.*3622-2607A>C (n.*3622-2607A>C)
c.4215T>G (p.Phe1405Leu)
c.3339T>G (p.Phe1113Leu)
c.2688T>G (p.Phe896Leu)
c.2292T>G (p.Phe764Leu)
c.2034T>G (p.Phe678Leu)
c.3312T>G (p.Phe1104Leu)
10g.75029202T>ACA377296838DUSP29,KAT6Bc.4378T>A (p.Leu1460Ile)
c.3829T>A (p.Leu1277Ile)
c.3502T>A (p.Leu1168Ile)
n.577-2608A>T
c.*3622-2608A>T (n.*3622-2608A>T)
c.4216T>A (p.Leu1406Ile)
c.3340T>A (p.Leu1114Ile)
c.2689T>A (p.Leu897Ile)
c.2293T>A (p.Leu765Ile)
c.2035T>A (p.Leu679Ile)
c.3313T>A (p.Leu1105Ile)
10g.75029202T>CCA470300359DUSP29,KAT6Bc.4378T>C (p.Leu1460=)
c.3829T>C (p.Leu1277=)
c.3502T>C (p.Leu1168=)
n.577-2608A>G
c.*3622-2608A>G (n.*3622-2608A>G)
c.4216T>C (p.Leu1406=)
c.3340T>C (p.Leu1114=)
c.2689T>C (p.Leu897=)
c.2293T>C (p.Leu765=)
c.2035T>C (p.Leu679=)
c.3313T>C (p.Leu1105=)
 gnomAD v4
10g.75029202T>GCA377296839DUSP29,KAT6Bc.4378T>G (p.Leu1460Val)
c.3829T>G (p.Leu1277Val)
c.3502T>G (p.Leu1168Val)
n.577-2608A>C
c.*3622-2608A>C (n.*3622-2608A>C)
c.4216T>G (p.Leu1406Val)
c.3340T>G (p.Leu1114Val)
c.2689T>G (p.Leu897Val)
c.2293T>G (p.Leu765Val)
c.2035T>G (p.Leu679Val)
c.3313T>G (p.Leu1105Val)
10g.75029203T>ACA377296840DUSP29,KAT6Bc.4379T>A (p.Leu1460Ter)
c.3830T>A (p.Leu1277Ter)
c.3503T>A (p.Leu1168Ter)
n.577-2609A>T
c.*3622-2609A>T (n.*3622-2609A>T)
c.4217T>A (p.Leu1406Ter)
c.3341T>A (p.Leu1114Ter)
c.2690T>A (p.Leu897Ter)
c.2294T>A (p.Leu765Ter)
c.2036T>A (p.Leu679Ter)
c.3314T>A (p.Leu1105Ter)
10g.75029203T>CCA377296841DUSP29,KAT6Bc.4379T>C (p.Leu1460Ser)
c.3830T>C (p.Leu1277Ser)
c.3503T>C (p.Leu1168Ser)
n.577-2609A>G
c.*3622-2609A>G (n.*3622-2609A>G)
c.4217T>C (p.Leu1406Ser)
c.3341T>C (p.Leu1114Ser)
c.2690T>C (p.Leu897Ser)
c.2294T>C (p.Leu765Ser)
c.2036T>C (p.Leu679Ser)
c.3314T>C (p.Leu1105Ser)
 dbSNP gnomAD v4
10g.75029203T>GCA377296842DUSP29,KAT6Bc.4379T>G (p.Leu1460Ter)
c.3830T>G (p.Leu1277Ter)
c.3503T>G (p.Leu1168Ter)
n.577-2609A>C
c.*3622-2609A>C (n.*3622-2609A>C)
c.4217T>G (p.Leu1406Ter)
c.3341T>G (p.Leu1114Ter)
c.2690T>G (p.Leu897Ter)
c.2294T>G (p.Leu765Ter)
c.2036T>G (p.Leu679Ter)
c.3314T>G (p.Leu1105Ter)
 COSMIC
10g.75029203T=CA1920306638DUSP29,KAT6Bc.4379T= (p.Leu1460=)
c.3830T= (p.Leu1277=)
c.3503T= (p.Leu1168=)
n.577-2609A=
c.*3622-2609A= (n.*3622-2609A=)
c.4217T= (p.Leu1406=)
c.3341T= (p.Leu1114=)
c.2690T= (p.Leu897=)
c.2294T= (p.Leu765=)
c.2036T= (p.Leu679=)
c.3314T= (p.Leu1105=)
10g.75029204A>CCA377296844DUSP29,KAT6Bc.4380A>C (p.Leu1460Phe)
c.3831A>C (p.Leu1277Phe)
c.3504A>C (p.Leu1168Phe)
n.577-2610T>G
c.*3622-2610T>G (n.*3622-2610T>G)
c.4218A>C (p.Leu1406Phe)
c.3342A>C (p.Leu1114Phe)
c.2691A>C (p.Leu897Phe)
c.2295A>C (p.Leu765Phe)
c.2037A>C (p.Leu679Phe)
c.3315A>C (p.Leu1105Phe)
10g.75029204A>GCA470300364DUSP29,KAT6Bc.4380A>G (p.Leu1460=)
c.3831A>G (p.Leu1277=)
c.3504A>G (p.Leu1168=)
n.577-2610T>C
c.*3622-2610T>C (n.*3622-2610T>C)
c.4218A>G (p.Leu1406=)
c.3342A>G (p.Leu1114=)
c.2691A>G (p.Leu897=)
c.2295A>G (p.Leu765=)
c.2037A>G (p.Leu679=)
c.3315A>G (p.Leu1105=)
10g.75029204A>TCA377296843DUSP29,KAT6Bc.4380A>T (p.Leu1460Phe)
c.3831A>T (p.Leu1277Phe)
c.3504A>T (p.Leu1168Phe)
n.577-2610T>A
c.*3622-2610T>A (n.*3622-2610T>A)
c.4218A>T (p.Leu1406Phe)
c.3342A>T (p.Leu1114Phe)
c.2691A>T (p.Leu897Phe)
c.2295A>T (p.Leu765Phe)
c.2037A>T (p.Leu679Phe)
c.3315A>T (p.Leu1105Phe)
10g.75029205G>ACA377296845DUSP29,KAT6Bc.4381G>A (p.Asp1461Asn)
c.3832G>A (p.Asp1278Asn)
c.3505G>A (p.Asp1169Asn)
n.577-2611C>T
c.*3622-2611C>T (n.*3622-2611C>T)
c.4219G>A (p.Asp1407Asn)
c.3343G>A (p.Asp1115Asn)
c.2692G>A (p.Asp898Asn)
c.2296G>A (p.Asp766Asn)
c.2038G>A (p.Asp680Asn)
c.3316G>A (p.Asp1106Asn)
10g.75029205G>CCA377296846DUSP29,KAT6Bc.4381G>C (p.Asp1461His)
c.3832G>C (p.Asp1278His)
c.3505G>C (p.Asp1169His)
n.577-2611C>G
c.*3622-2611C>G (n.*3622-2611C>G)
c.4219G>C (p.Asp1407His)
c.3343G>C (p.Asp1115His)
c.2692G>C (p.Asp898His)
c.2296G>C (p.Asp766His)
c.2038G>C (p.Asp680His)
c.3316G>C (p.Asp1106His)
10g.75029205G>TCA377296847DUSP29,KAT6Bc.4381G>T (p.Asp1461Tyr)
c.3832G>T (p.Asp1278Tyr)
c.3505G>T (p.Asp1169Tyr)
n.577-2611C>A
c.*3622-2611C>A (n.*3622-2611C>A)
c.4219G>T (p.Asp1407Tyr)
c.3343G>T (p.Asp1115Tyr)
c.2692G>T (p.Asp898Tyr)
c.2296G>T (p.Asp766Tyr)
c.2038G>T (p.Asp680Tyr)
c.3316G>T (p.Asp1106Tyr)
10g.75029206A=CA1920306639DUSP29,KAT6Bc.4382A= (p.Asp1461=)
c.3833A= (p.Asp1278=)
c.3506A= (p.Asp1169=)
n.577-2612T=
c.*3622-2612T= (n.*3622-2612T=)
c.4220A= (p.Asp1407=)
c.3344A= (p.Asp1115=)
c.2693A= (p.Asp898=)
c.2297A= (p.Asp766=)
c.2039A= (p.Asp680=)
c.3317A= (p.Asp1106=)
10g.75029206A>CCA377296848DUSP29,KAT6Bc.4382A>C (p.Asp1461Ala)
c.3833A>C (p.Asp1278Ala)
c.3506A>C (p.Asp1169Ala)
n.577-2612T>G
c.*3622-2612T>G (n.*3622-2612T>G)
c.4220A>C (p.Asp1407Ala)
c.3344A>C (p.Asp1115Ala)
c.2693A>C (p.Asp898Ala)
c.2297A>C (p.Asp766Ala)
c.2039A>C (p.Asp680Ala)
c.3317A>C (p.Asp1106Ala)
 dbSNP gnomAD v4
10g.75029206A>GCA377296849DUSP29,KAT6Bc.4382A>G (p.Asp1461Gly)
c.3833A>G (p.Asp1278Gly)
c.3506A>G (p.Asp1169Gly)
n.577-2612T>C
c.*3622-2612T>C (n.*3622-2612T>C)
c.4220A>G (p.Asp1407Gly)
c.3344A>G (p.Asp1115Gly)
c.2693A>G (p.Asp898Gly)
c.2297A>G (p.Asp766Gly)
c.2039A>G (p.Asp680Gly)
c.3317A>G (p.Asp1106Gly)
10g.75029206A>TCA377296850DUSP29,KAT6Bc.4382A>T (p.Asp1461Val)
c.3833A>T (p.Asp1278Val)
c.3506A>T (p.Asp1169Val)
n.577-2612T>A
c.*3622-2612T>A (n.*3622-2612T>A)
c.4220A>T (p.Asp1407Val)
c.3344A>T (p.Asp1115Val)
c.2693A>T (p.Asp898Val)
c.2297A>T (p.Asp766Val)
c.2039A>T (p.Asp680Val)
c.3317A>T (p.Asp1106Val)

Number of alleles fetched