Chr Mutation (hg38) CAid Gene Transcript Linkouts
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)
10g.75029207C>ACA377296851DUSP29,KAT6Bc.4383C>A (p.Asp1461Glu)
c.3834C>A (p.Asp1278Glu)
c.3507C>A (p.Asp1169Glu)
n.577-2613G>T
c.*3622-2613G>T (n.*3622-2613G>T)
c.4221C>A (p.Asp1407Glu)
c.3345C>A (p.Asp1115Glu)
c.2694C>A (p.Asp898Glu)
c.2298C>A (p.Asp766Glu)
c.2040C>A (p.Asp680Glu)
c.3318C>A (p.Asp1106Glu)
10g.75029207C>GCA377296852DUSP29,KAT6Bc.4383C>G (p.Asp1461Glu)
c.3834C>G (p.Asp1278Glu)
c.3507C>G (p.Asp1169Glu)
n.577-2613G>C
c.*3622-2613G>C (n.*3622-2613G>C)
c.4221C>G (p.Asp1407Glu)
c.3345C>G (p.Asp1115Glu)
c.2694C>G (p.Asp898Glu)
c.2298C>G (p.Asp766Glu)
c.2040C>G (p.Asp680Glu)
c.3318C>G (p.Asp1106Glu)
10g.75029207C>TCA470300370DUSP29,KAT6Bc.4383C>T (p.Asp1461=)
c.3834C>T (p.Asp1278=)
c.3507C>T (p.Asp1169=)
n.577-2613G>A
c.*3622-2613G>A (n.*3622-2613G>A)
c.4221C>T (p.Asp1407=)
c.3345C>T (p.Asp1115=)
c.2694C>T (p.Asp898=)
c.2298C>T (p.Asp766=)
c.2040C>T (p.Asp680=)
c.3318C>T (p.Asp1106=)
10g.75029208C>ACA5565022DUSP29,KAT6Bc.4384C>A (p.Leu1462Ile)
c.3835C>A (p.Leu1279Ile)
c.3508C>A (p.Leu1170Ile)
n.577-2614G>T
c.*3622-2614G>T (n.*3622-2614G>T)
c.4222C>A (p.Leu1408Ile)
c.3346C>A (p.Leu1116Ile)
c.2695C>A (p.Leu899Ile)
c.2299C>A (p.Leu767Ile)
c.2041C>A (p.Leu681Ile)
c.3319C>A (p.Leu1107Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.75029208C=CA1920306640DUSP29,KAT6Bc.4384C= (p.Leu1462=)
c.3835C= (p.Leu1279=)
c.3508C= (p.Leu1170=)
n.577-2614G=
c.*3622-2614G= (n.*3622-2614G=)
c.4222C= (p.Leu1408=)
c.3346C= (p.Leu1116=)
c.2695C= (p.Leu899=)
c.2299C= (p.Leu767=)
c.2041C= (p.Leu681=)
c.3319C= (p.Leu1107=)
10g.75029208C>GCA377296853DUSP29,KAT6Bc.4384C>G (p.Leu1462Val)
c.3835C>G (p.Leu1279Val)
c.3508C>G (p.Leu1170Val)
n.577-2614G>C
c.*3622-2614G>C (n.*3622-2614G>C)
c.4222C>G (p.Leu1408Val)
c.3346C>G (p.Leu1116Val)
c.2695C>G (p.Leu899Val)
c.2299C>G (p.Leu767Val)
c.2041C>G (p.Leu681Val)
c.3319C>G (p.Leu1107Val)
10g.75029208C>TCA377296854DUSP29,KAT6Bc.4384C>T (p.Leu1462Phe)
c.3835C>T (p.Leu1279Phe)
c.3508C>T (p.Leu1170Phe)
n.577-2614G>A
c.*3622-2614G>A (n.*3622-2614G>A)
c.4222C>T (p.Leu1408Phe)
c.3346C>T (p.Leu1116Phe)
c.2695C>T (p.Leu899Phe)
c.2299C>T (p.Leu767Phe)
c.2041C>T (p.Leu681Phe)
c.3319C>T (p.Leu1107Phe)
 gnomAD v4
10g.75029209T>ACA377296857DUSP29,KAT6Bc.4385T>A (p.Leu1462His)
c.3836T>A (p.Leu1279His)
c.3509T>A (p.Leu1170His)
n.577-2615A>T
c.*3622-2615A>T (n.*3622-2615A>T)
c.4223T>A (p.Leu1408His)
c.3347T>A (p.Leu1116His)
c.2696T>A (p.Leu899His)
c.2300T>A (p.Leu767His)
c.2042T>A (p.Leu681His)
c.3320T>A (p.Leu1107His)
10g.75029209T>CCA377296856DUSP29,KAT6Bc.4385T>C (p.Leu1462Pro)
c.3836T>C (p.Leu1279Pro)
c.3509T>C (p.Leu1170Pro)
n.577-2615A>G
c.*3622-2615A>G (n.*3622-2615A>G)
c.4223T>C (p.Leu1408Pro)
c.3347T>C (p.Leu1116Pro)
c.2696T>C (p.Leu899Pro)
c.2300T>C (p.Leu767Pro)
c.2042T>C (p.Leu681Pro)
c.3320T>C (p.Leu1107Pro)
10g.75029209T>GCA377296855DUSP29,KAT6Bc.4385T>G (p.Leu1462Arg)
c.3836T>G (p.Leu1279Arg)
c.3509T>G (p.Leu1170Arg)
n.577-2615A>C
c.*3622-2615A>C (n.*3622-2615A>C)
c.4223T>G (p.Leu1408Arg)
c.3347T>G (p.Leu1116Arg)
c.2696T>G (p.Leu899Arg)
c.2300T>G (p.Leu767Arg)
c.2042T>G (p.Leu681Arg)
c.3320T>G (p.Leu1107Arg)
10g.75029210T>ACA470300377DUSP29,KAT6Bc.4386T>A (p.Leu1462=)
c.3837T>A (p.Leu1279=)
c.3510T>A (p.Leu1170=)
n.577-2616A>T
c.*3622-2616A>T (n.*3622-2616A>T)
c.4224T>A (p.Leu1408=)
c.3348T>A (p.Leu1116=)
c.2697T>A (p.Leu899=)
c.2301T>A (p.Leu767=)
c.2043T>A (p.Leu681=)
c.3321T>A (p.Leu1107=)
10g.75029210T>CCA470300379DUSP29,KAT6Bc.4386T>C (p.Leu1462=)
c.3837T>C (p.Leu1279=)
c.3510T>C (p.Leu1170=)
n.577-2616A>G
c.*3622-2616A>G (n.*3622-2616A>G)
c.4224T>C (p.Leu1408=)
c.3348T>C (p.Leu1116=)
c.2697T>C (p.Leu899=)
c.2301T>C (p.Leu767=)
c.2043T>C (p.Leu681=)
c.3321T>C (p.Leu1107=)
10g.75029210T>GCA470300380DUSP29,KAT6Bc.4386T>G (p.Leu1462=)
c.3837T>G (p.Leu1279=)
c.3510T>G (p.Leu1170=)
n.577-2616A>C
c.*3622-2616A>C (n.*3622-2616A>C)
c.4224T>G (p.Leu1408=)
c.3348T>G (p.Leu1116=)
c.2697T>G (p.Leu899=)
c.2301T>G (p.Leu767=)
c.2043T>G (p.Leu681=)
c.3321T>G (p.Leu1107=)
10g.75029211A>CCA377296859DUSP29,KAT6Bc.4387A>C (p.Asn1463His)
c.3838A>C (p.Asn1280His)
c.3511A>C (p.Asn1171His)
n.577-2617T>G
c.*3622-2617T>G (n.*3622-2617T>G)
c.4225A>C (p.Asn1409His)
c.3349A>C (p.Asn1117His)
c.2698A>C (p.Asn900His)
c.2302A>C (p.Asn768His)
c.2044A>C (p.Asn682His)
c.3322A>C (p.Asn1108His)
10g.75029211A>GCA377296858DUSP29,KAT6Bc.4387A>G (p.Asn1463Asp)
c.3838A>G (p.Asn1280Asp)
c.3511A>G (p.Asn1171Asp)
n.577-2617T>C
c.*3622-2617T>C (n.*3622-2617T>C)
c.4225A>G (p.Asn1409Asp)
c.3349A>G (p.Asn1117Asp)
c.2698A>G (p.Asn900Asp)
c.2302A>G (p.Asn768Asp)
c.2044A>G (p.Asn682Asp)
c.3322A>G (p.Asn1108Asp)
10g.75029211A>TCA377296860DUSP29,KAT6Bc.4387A>T (p.Asn1463Tyr)
c.3838A>T (p.Asn1280Tyr)
c.3511A>T (p.Asn1171Tyr)
n.577-2617T>A
c.*3622-2617T>A (n.*3622-2617T>A)
c.4225A>T (p.Asn1409Tyr)
c.3349A>T (p.Asn1117Tyr)
c.2698A>T (p.Asn900Tyr)
c.2302A>T (p.Asn768Tyr)
c.2044A>T (p.Asn682Tyr)
c.3322A>T (p.Asn1108Tyr)
10g.75029212A=CA1920306641DUSP29,KAT6Bc.4388A= (p.Asn1463=)
c.3839A= (p.Asn1280=)
c.3512A= (p.Asn1171=)
n.577-2618T=
c.*3622-2618T= (n.*3622-2618T=)
c.4226A= (p.Asn1409=)
c.3350A= (p.Asn1117=)
c.2699A= (p.Asn900=)
c.2303A= (p.Asn768=)
c.2045A= (p.Asn682=)
c.3323A= (p.Asn1108=)
10g.75029212A>CCA377296861DUSP29,KAT6Bc.4388A>C (p.Asn1463Thr)
c.3839A>C (p.Asn1280Thr)
c.3512A>C (p.Asn1171Thr)
n.577-2618T>G
c.*3622-2618T>G (n.*3622-2618T>G)
c.4226A>C (p.Asn1409Thr)
c.3350A>C (p.Asn1117Thr)
c.2699A>C (p.Asn900Thr)
c.2303A>C (p.Asn768Thr)
c.2045A>C (p.Asn682Thr)
c.3323A>C (p.Asn1108Thr)
10g.75029212A>GCA377296862DUSP29,KAT6Bc.4388A>G (p.Asn1463Ser)
c.3839A>G (p.Asn1280Ser)
c.3512A>G (p.Asn1171Ser)
n.577-2618T>C
c.*3622-2618T>C (n.*3622-2618T>C)
c.4226A>G (p.Asn1409Ser)
c.3350A>G (p.Asn1117Ser)
c.2699A>G (p.Asn900Ser)
c.2303A>G (p.Asn768Ser)
c.2045A>G (p.Asn682Ser)
c.3323A>G (p.Asn1108Ser)
10g.75029212A>TCA377296863DUSP29,KAT6Bc.4388A>T (p.Asn1463Ile)
c.3839A>T (p.Asn1280Ile)
c.3512A>T (p.Asn1171Ile)
n.577-2618T>A
c.*3622-2618T>A (n.*3622-2618T>A)
c.4226A>T (p.Asn1409Ile)
c.3350A>T (p.Asn1117Ile)
c.2699A>T (p.Asn900Ile)
c.2303A>T (p.Asn768Ile)
c.2045A>T (p.Asn682Ile)
c.3323A>T (p.Asn1108Ile)
 dbSNP gnomAD v3 gnomAD v4
10g.75029213T>ACA377296864DUSP29,KAT6Bc.4389T>A (p.Asn1463Lys)
c.3840T>A (p.Asn1280Lys)
c.3513T>A (p.Asn1171Lys)
n.577-2619A>T
c.*3622-2619A>T (n.*3622-2619A>T)
c.4227T>A (p.Asn1409Lys)
c.3351T>A (p.Asn1117Lys)
c.2700T>A (p.Asn900Lys)
c.2304T>A (p.Asn768Lys)
c.2046T>A (p.Asn682Lys)
c.3324T>A (p.Asn1108Lys)
10g.75029213T>CCA470300388DUSP29,KAT6Bc.4389T>C (p.Asn1463=)
c.3840T>C (p.Asn1280=)
c.3513T>C (p.Asn1171=)
n.577-2619A>G
c.*3622-2619A>G (n.*3622-2619A>G)
c.4227T>C (p.Asn1409=)
c.3351T>C (p.Asn1117=)
c.2700T>C (p.Asn900=)
c.2304T>C (p.Asn768=)
c.2046T>C (p.Asn682=)
c.3324T>C (p.Asn1108=)
 dbSNP gnomAD v2 gnomAD v4
10g.75029213T>GCA377296865DUSP29,KAT6Bc.4389T>G (p.Asn1463Lys)
c.3840T>G (p.Asn1280Lys)
c.3513T>G (p.Asn1171Lys)
n.577-2619A>C
c.*3622-2619A>C (n.*3622-2619A>C)
c.4227T>G (p.Asn1409Lys)
c.3351T>G (p.Asn1117Lys)
c.2700T>G (p.Asn900Lys)
c.2304T>G (p.Asn768Lys)
c.2046T>G (p.Asn682Lys)
c.3324T>G (p.Asn1108Lys)
10g.75029213T=CA1920306642DUSP29,KAT6Bc.4389T= (p.Asn1463=)
c.3840T= (p.Asn1280=)
c.3513T= (p.Asn1171=)
n.577-2619A=
c.*3622-2619A= (n.*3622-2619A=)
c.4227T= (p.Asn1409=)
c.3351T= (p.Asn1117=)
c.2700T= (p.Asn900=)
c.2304T= (p.Asn768=)
c.2046T= (p.Asn682=)
c.3324T= (p.Asn1108=)
10g.75029215_75029216delCA2580615516DUSP29,KAT6Bc.4391_4392del (p.Val1464AlafsTer22)
c.3842_3843del (p.Val1281AlafsTer22)
c.3515_3516del (p.Val1172AlafsTer22)
n.577-2620_577-2619del
c.*3622-2620_*3622-2619del (n.*3622-2620_*3622-2619del)
c.4229_4230del (p.Val1410AlafsTer22)
c.3353_3354del (p.Val1118AlafsTer22)
c.2702_2703del (p.Val901AlafsTer22)
c.2306_2307del (p.Val769AlafsTer22)
c.2048_2049del (p.Val683AlafsTer22)
c.3326_3327del (p.Val1109AlafsTer22)
 ClinVar dbSNP
10g.75029214G>ACA5565023DUSP29,KAT6Bc.4390G>A (p.Val1464Met)
c.3841G>A (p.Val1281Met)
c.3514G>A (p.Val1172Met)
n.577-2620C>T
c.*3622-2620C>T (n.*3622-2620C>T)
c.4228G>A (p.Val1410Met)
c.3352G>A (p.Val1118Met)
c.2701G>A (p.Val901Met)
c.2305G>A (p.Val769Met)
c.2047G>A (p.Val683Met)
c.3325G>A (p.Val1109Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.75029214G>CCA377296866DUSP29,KAT6Bc.4390G>C (p.Val1464Leu)
c.3841G>C (p.Val1281Leu)
c.3514G>C (p.Val1172Leu)
n.577-2620C>G
c.*3622-2620C>G (n.*3622-2620C>G)
c.4228G>C (p.Val1410Leu)
c.3352G>C (p.Val1118Leu)
c.2701G>C (p.Val901Leu)
c.2305G>C (p.Val769Leu)
c.2047G>C (p.Val683Leu)
c.3325G>C (p.Val1109Leu)
 gnomAD v4
10g.75029214G=CA1920306643DUSP29,KAT6Bc.4390G= (p.Val1464=)
c.3841G= (p.Val1281=)
c.3514G= (p.Val1172=)
n.577-2620C=
c.*3622-2620C= (n.*3622-2620C=)
c.4228G= (p.Val1410=)
c.3352G= (p.Val1118=)
c.2701G= (p.Val901=)
c.2305G= (p.Val769=)
c.2047G= (p.Val683=)
c.3325G= (p.Val1109=)
10g.75029214G>TCA377296867DUSP29,KAT6Bc.4390G>T (p.Val1464Leu)
c.3841G>T (p.Val1281Leu)
c.3514G>T (p.Val1172Leu)
n.577-2620C>A
c.*3622-2620C>A (n.*3622-2620C>A)
c.4228G>T (p.Val1410Leu)
c.3352G>T (p.Val1118Leu)
c.2701G>T (p.Val901Leu)
c.2305G>T (p.Val769Leu)
c.2047G>T (p.Val683Leu)
c.3325G>T (p.Val1109Leu)
10g.75029215T>ACA377296868DUSP29,KAT6Bc.4391T>A (p.Val1464Glu)
c.3842T>A (p.Val1281Glu)
c.3515T>A (p.Val1172Glu)
n.577-2621A>T
c.*3622-2621A>T (n.*3622-2621A>T)
c.4229T>A (p.Val1410Glu)
c.3353T>A (p.Val1118Glu)
c.2702T>A (p.Val901Glu)
c.2306T>A (p.Val769Glu)
c.2048T>A (p.Val683Glu)
c.3326T>A (p.Val1109Glu)
10g.75029215T>CCA377296869DUSP29,KAT6Bc.4391T>C (p.Val1464Ala)
c.3842T>C (p.Val1281Ala)
c.3515T>C (p.Val1172Ala)
n.577-2621A>G
c.*3622-2621A>G (n.*3622-2621A>G)
c.4229T>C (p.Val1410Ala)
c.3353T>C (p.Val1118Ala)
c.2702T>C (p.Val901Ala)
c.2306T>C (p.Val769Ala)
c.2048T>C (p.Val683Ala)
c.3326T>C (p.Val1109Ala)
 gnomAD v4
10g.75029215T>GCA5565024DUSP29,KAT6Bc.4391T>G (p.Val1464Gly)
c.3842T>G (p.Val1281Gly)
c.3515T>G (p.Val1172Gly)
n.577-2621A>C
c.*3622-2621A>C (n.*3622-2621A>C)
c.4229T>G (p.Val1410Gly)
c.3353T>G (p.Val1118Gly)
c.2702T>G (p.Val901Gly)
c.2306T>G (p.Val769Gly)
c.2048T>G (p.Val683Gly)
c.3326T>G (p.Val1109Gly)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.75029215T=CA1920306644DUSP29,KAT6Bc.4391T= (p.Val1464=)
c.3842T= (p.Val1281=)
c.3515T= (p.Val1172=)
n.577-2621A=
c.*3622-2621A= (n.*3622-2621A=)
c.4229T= (p.Val1410=)
c.3353T= (p.Val1118=)
c.2702T= (p.Val901=)
c.2306T= (p.Val769=)
c.2048T= (p.Val683=)
c.3326T= (p.Val1109=)
10g.75029216G>ACA5565025DUSP29,KAT6Bc.4392G>A (p.Val1464=)
c.3843G>A (p.Val1281=)
c.3516G>A (p.Val1172=)
n.577-2622C>T
c.*3622-2622C>T (n.*3622-2622C>T)
c.4230G>A (p.Val1410=)
c.3354G>A (p.Val1118=)
c.2703G>A (p.Val901=)
c.2307G>A (p.Val769=)
c.2049G>A (p.Val683=)
c.3327G>A (p.Val1109=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.75029216G>CCA470300398DUSP29,KAT6Bc.4392G>C (p.Val1464=)
c.3843G>C (p.Val1281=)
c.3516G>C (p.Val1172=)
n.577-2622C>G
c.*3622-2622C>G (n.*3622-2622C>G)
c.4230G>C (p.Val1410=)
c.3354G>C (p.Val1118=)
c.2703G>C (p.Val901=)
c.2307G>C (p.Val769=)
c.2049G>C (p.Val683=)
c.3327G>C (p.Val1109=)
10g.75029216G=CA1920306645DUSP29,KAT6Bc.4392G= (p.Val1464=)
c.3843G= (p.Val1281=)
c.3516G= (p.Val1172=)
n.577-2622C=
c.*3622-2622C= (n.*3622-2622C=)
c.4230G= (p.Val1410=)
c.3354G= (p.Val1118=)
c.2703G= (p.Val901=)
c.2307G= (p.Val769=)
c.2049G= (p.Val683=)
c.3327G= (p.Val1109=)
10g.75029216G>TCA470300399DUSP29,KAT6Bc.4392G>T (p.Val1464=)
c.3843G>T (p.Val1281=)
c.3516G>T (p.Val1172=)
n.577-2622C>A
c.*3622-2622C>A (n.*3622-2622C>A)
c.4230G>T (p.Val1410=)
c.3354G>T (p.Val1118=)
c.2703G>T (p.Val901=)
c.2307G>T (p.Val769=)
c.2049G>T (p.Val683=)
c.3327G>T (p.Val1109=)
10g.75029216_75029217delinsAACA2499220384DUSP29,KAT6Bc.4392_4393delinsAA (p.Gln1465Lys)
c.3843_3844delinsAA (p.Gln1282Lys)
c.3516_3517delinsAA (p.Gln1173Lys)
n.577-2623_577-2622delinsTT
c.*3622-2623_*3622-2622delinsTT (n.*3622-2623_*3622-2622delinsTT)
c.4230_4231delinsAA (p.Gln1411Lys)
c.3354_3355delinsAA (p.Gln1119Lys)
c.2703_2704delinsAA (p.Gln902Lys)
c.2307_2308delinsAA (p.Gln770Lys)
c.2049_2050delinsAA (p.Gln684Lys)
c.3327_3328delinsAA (p.Gln1110Lys)
 ClinVar dbSNP
10g.75029217C>ACA5565026DUSP29,KAT6Bc.4393C>A (p.Gln1465Lys)
c.3844C>A (p.Gln1282Lys)
c.3517C>A (p.Gln1173Lys)
n.577-2623G>T
c.*3622-2623G>T (n.*3622-2623G>T)
c.4231C>A (p.Gln1411Lys)
c.3355C>A (p.Gln1119Lys)
c.2704C>A (p.Gln902Lys)
c.2308C>A (p.Gln770Lys)
c.2050C>A (p.Gln684Lys)
c.3328C>A (p.Gln1110Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.75029217C=CA1920306646DUSP29,KAT6Bc.4393C= (p.Gln1465=)
c.3844C= (p.Gln1282=)
c.3517C= (p.Gln1173=)
n.577-2623G=
c.*3622-2623G= (n.*3622-2623G=)
c.4231C= (p.Gln1411=)
c.3355C= (p.Gln1119=)
c.2704C= (p.Gln902=)
c.2308C= (p.Gln770=)
c.2050C= (p.Gln684=)
c.3328C= (p.Gln1110=)
10g.75029217C>GCA377296870DUSP29,KAT6Bc.4393C>G (p.Gln1465Glu)
c.3844C>G (p.Gln1282Glu)
c.3517C>G (p.Gln1173Glu)
n.577-2623G>C
c.*3622-2623G>C (n.*3622-2623G>C)
c.4231C>G (p.Gln1411Glu)
c.3355C>G (p.Gln1119Glu)
c.2704C>G (p.Gln902Glu)
c.2308C>G (p.Gln770Glu)
c.2050C>G (p.Gln684Glu)
c.3328C>G (p.Gln1110Glu)
 dbSNP
10g.75029217C>TCA377296871DUSP29,KAT6Bc.4393C>T (p.Gln1465Ter)
c.3844C>T (p.Gln1282Ter)
c.3517C>T (p.Gln1173Ter)
n.577-2623G>A
c.*3622-2623G>A (n.*3622-2623G>A)
c.4231C>T (p.Gln1411Ter)
c.3355C>T (p.Gln1119Ter)
c.2704C>T (p.Gln902Ter)
c.2308C>T (p.Gln770Ter)
c.2050C>T (p.Gln684Ter)
c.3328C>T (p.Gln1110Ter)
10g.75029218A>CCA377296872DUSP29,KAT6Bc.4394A>C (p.Gln1465Pro)
c.3845A>C (p.Gln1282Pro)
c.3518A>C (p.Gln1173Pro)
n.577-2624T>G
c.*3622-2624T>G (n.*3622-2624T>G)
c.4232A>C (p.Gln1411Pro)
c.3356A>C (p.Gln1119Pro)
c.2705A>C (p.Gln902Pro)
c.2309A>C (p.Gln770Pro)
c.2051A>C (p.Gln684Pro)
c.3329A>C (p.Gln1110Pro)
10g.75029218A>GCA377296873DUSP29,KAT6Bc.4394A>G (p.Gln1465Arg)
c.3845A>G (p.Gln1282Arg)
c.3518A>G (p.Gln1173Arg)
n.577-2624T>C
c.*3622-2624T>C (n.*3622-2624T>C)
c.4232A>G (p.Gln1411Arg)
c.3356A>G (p.Gln1119Arg)
c.2705A>G (p.Gln902Arg)
c.2309A>G (p.Gln770Arg)
c.2051A>G (p.Gln684Arg)
c.3329A>G (p.Gln1110Arg)
10g.75029218A>TCA377296874DUSP29,KAT6Bc.4394A>T (p.Gln1465Leu)
c.3845A>T (p.Gln1282Leu)
c.3518A>T (p.Gln1173Leu)
n.577-2624T>A
c.*3622-2624T>A (n.*3622-2624T>A)
c.4232A>T (p.Gln1411Leu)
c.3356A>T (p.Gln1119Leu)
c.2705A>T (p.Gln902Leu)
c.2309A>T (p.Gln770Leu)
c.2051A>T (p.Gln684Leu)
c.3329A>T (p.Gln1110Leu)
10g.75029219G>ACA470300408DUSP29,KAT6Bc.4395G>A (p.Gln1465=)
c.3846G>A (p.Gln1282=)
c.3519G>A (p.Gln1173=)
n.577-2625C>T
c.*3622-2625C>T (n.*3622-2625C>T)
c.4233G>A (p.Gln1411=)
c.3357G>A (p.Gln1119=)
c.2706G>A (p.Gln902=)
c.2310G>A (p.Gln770=)
c.2052G>A (p.Gln684=)
c.3330G>A (p.Gln1110=)
10g.75029219G>CCA209709843DUSP29,KAT6Bc.4395G>C (p.Gln1465His)
c.3846G>C (p.Gln1282His)
c.3519G>C (p.Gln1173His)
n.577-2625C>G
c.*3622-2625C>G (n.*3622-2625C>G)
c.4233G>C (p.Gln1411His)
c.3357G>C (p.Gln1119His)
c.2706G>C (p.Gln902His)
c.2310G>C (p.Gln770His)
c.2052G>C (p.Gln684His)
c.3330G>C (p.Gln1110His)
 dbSNP gnomAD v4
10g.75029219G=CA1920306647DUSP29,KAT6Bc.4395G= (p.Gln1465=)
c.3846G= (p.Gln1282=)
c.3519G= (p.Gln1173=)
n.577-2625C=
c.*3622-2625C= (n.*3622-2625C=)
c.4233G= (p.Gln1411=)
c.3357G= (p.Gln1119=)
c.2706G= (p.Gln902=)
c.2310G= (p.Gln770=)
c.2052G= (p.Gln684=)
c.3330G= (p.Gln1110=)
10g.75029219G>TCA377296875DUSP29,KAT6Bc.4395G>T (p.Gln1465His)
c.3846G>T (p.Gln1282His)
c.3519G>T (p.Gln1173His)
n.577-2625C>A
c.*3622-2625C>A (n.*3622-2625C>A)
c.4233G>T (p.Gln1411His)
c.3357G>T (p.Gln1119His)
c.2706G>T (p.Gln902His)
c.2310G>T (p.Gln770His)
c.2052G>T (p.Gln684His)
c.3330G>T (p.Gln1110His)
10g.75029220C>ACA377296876DUSP29,KAT6Bc.4396C>A (p.Pro1466Thr)
c.3847C>A (p.Pro1283Thr)
c.3520C>A (p.Pro1174Thr)
n.577-2626G>T
c.*3622-2626G>T (n.*3622-2626G>T)
c.4234C>A (p.Pro1412Thr)
c.3358C>A (p.Pro1120Thr)
c.2707C>A (p.Pro903Thr)
c.2311C>A (p.Pro771Thr)
c.2053C>A (p.Pro685Thr)
c.3331C>A (p.Pro1111Thr)
10g.75029220C>GCA377296877DUSP29,KAT6Bc.4396C>G (p.Pro1466Ala)
c.3847C>G (p.Pro1283Ala)
c.3520C>G (p.Pro1174Ala)
n.577-2626G>C
c.*3622-2626G>C (n.*3622-2626G>C)
c.4234C>G (p.Pro1412Ala)
c.3358C>G (p.Pro1120Ala)
c.2707C>G (p.Pro903Ala)
c.2311C>G (p.Pro771Ala)
c.2053C>G (p.Pro685Ala)
c.3331C>G (p.Pro1111Ala)
10g.75029220C>TCA377296878DUSP29,KAT6Bc.4396C>T (p.Pro1466Ser)
c.3847C>T (p.Pro1283Ser)
c.3520C>T (p.Pro1174Ser)
n.577-2626G>A
c.*3622-2626G>A (n.*3622-2626G>A)
c.4234C>T (p.Pro1412Ser)
c.3358C>T (p.Pro1120Ser)
c.2707C>T (p.Pro903Ser)
c.2311C>T (p.Pro771Ser)
c.2053C>T (p.Pro685Ser)
c.3331C>T (p.Pro1111Ser)
10g.75029221C>ACA377296879DUSP29,KAT6Bc.4397C>A (p.Pro1466His)
c.3848C>A (p.Pro1283His)
c.3521C>A (p.Pro1174His)
n.577-2627G>T
c.*3622-2627G>T (n.*3622-2627G>T)
c.4235C>A (p.Pro1412His)
c.3359C>A (p.Pro1120His)
c.2708C>A (p.Pro903His)
c.2312C>A (p.Pro771His)
c.2054C>A (p.Pro685His)
c.3332C>A (p.Pro1111His)
10g.75029221C=CA1920306648DUSP29,KAT6Bc.4397C= (p.Pro1466=)
c.3848C= (p.Pro1283=)
c.3521C= (p.Pro1174=)
n.577-2627G=
c.*3622-2627G= (n.*3622-2627G=)
c.4235C= (p.Pro1412=)
c.3359C= (p.Pro1120=)
c.2708C= (p.Pro903=)
c.2312C= (p.Pro771=)
c.2054C= (p.Pro685=)
c.3332C= (p.Pro1111=)
10g.75029221C>GCA209709853DUSP29,KAT6Bc.4397C>G (p.Pro1466Arg)
c.3848C>G (p.Pro1283Arg)
c.3521C>G (p.Pro1174Arg)
n.577-2627G>C
c.*3622-2627G>C (n.*3622-2627G>C)
c.4235C>G (p.Pro1412Arg)
c.3359C>G (p.Pro1120Arg)
c.2708C>G (p.Pro903Arg)
c.2312C>G (p.Pro771Arg)
c.2054C>G (p.Pro685Arg)
c.3332C>G (p.Pro1111Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.75029221C>TCA377296880DUSP29,KAT6Bc.4397C>T (p.Pro1466Leu)
c.3848C>T (p.Pro1283Leu)
c.3521C>T (p.Pro1174Leu)
n.577-2627G>A
c.*3622-2627G>A (n.*3622-2627G>A)
c.4235C>T (p.Pro1412Leu)
c.3359C>T (p.Pro1120Leu)
c.2708C>T (p.Pro903Leu)
c.2312C>T (p.Pro771Leu)
c.2054C>T (p.Pro685Leu)
c.3332C>T (p.Pro1111Leu)
 gnomAD v4 COSMIC
10g.75029222T>ACA470300419DUSP29,KAT6Bc.4398T>A (p.Pro1466=)
c.3849T>A (p.Pro1283=)
c.3522T>A (p.Pro1174=)
n.577-2628A>T
c.*3622-2628A>T (n.*3622-2628A>T)
c.4236T>A (p.Pro1412=)
c.3360T>A (p.Pro1120=)
c.2709T>A (p.Pro903=)
c.2313T>A (p.Pro771=)
c.2055T>A (p.Pro685=)
c.3333T>A (p.Pro1111=)
10g.75029222T>CCA470300420DUSP29,KAT6Bc.4398T>C (p.Pro1466=)
c.3849T>C (p.Pro1283=)
c.3522T>C (p.Pro1174=)
n.577-2628A>G
c.*3622-2628A>G (n.*3622-2628A>G)
c.4236T>C (p.Pro1412=)
c.3360T>C (p.Pro1120=)
c.2709T>C (p.Pro903=)
c.2313T>C (p.Pro771=)
c.2055T>C (p.Pro685=)
c.3333T>C (p.Pro1111=)
10g.75029222T>GCA470300421DUSP29,KAT6Bc.4398T>G (p.Pro1466=)
c.3849T>G (p.Pro1283=)
c.3522T>G (p.Pro1174=)
n.577-2628A>C
c.*3622-2628A>C (n.*3622-2628A>C)
c.4236T>G (p.Pro1412=)
c.3360T>G (p.Pro1120=)
c.2709T>G (p.Pro903=)
c.2313T>G (p.Pro771=)
c.2055T>G (p.Pro685=)
c.3333T>G (p.Pro1111=)
10g.75029223G>ACA377296882DUSP29,KAT6Bc.4399G>A (p.Gly1467Ser)
c.3850G>A (p.Gly1284Ser)
c.3523G>A (p.Gly1175Ser)
n.577-2629C>T
c.*3622-2629C>T (n.*3622-2629C>T)
c.4237G>A (p.Gly1413Ser)
c.3361G>A (p.Gly1121Ser)
c.2710G>A (p.Gly904Ser)
c.2314G>A (p.Gly772Ser)
c.2056G>A (p.Gly686Ser)
c.3334G>A (p.Gly1112Ser)
10g.75029223G>CCA377296883DUSP29,KAT6Bc.4399G>C (p.Gly1467Arg)
c.3850G>C (p.Gly1284Arg)
c.3523G>C (p.Gly1175Arg)
n.577-2629C>G
c.*3622-2629C>G (n.*3622-2629C>G)
c.4237G>C (p.Gly1413Arg)
c.3361G>C (p.Gly1121Arg)
c.2710G>C (p.Gly904Arg)
c.2314G>C (p.Gly772Arg)
c.2056G>C (p.Gly686Arg)
c.3334G>C (p.Gly1112Arg)
10g.75029223G>TCA377296881DUSP29,KAT6Bc.4399G>T (p.Gly1467Cys)
c.3850G>T (p.Gly1284Cys)
c.3523G>T (p.Gly1175Cys)
n.577-2629C>A
c.*3622-2629C>A (n.*3622-2629C>A)
c.4237G>T (p.Gly1413Cys)
c.3361G>T (p.Gly1121Cys)
c.2710G>T (p.Gly904Cys)
c.2314G>T (p.Gly772Cys)
c.2056G>T (p.Gly686Cys)
c.3334G>T (p.Gly1112Cys)
10g.75029224G>ACA377296884DUSP29,KAT6Bc.4400G>A (p.Gly1467Asp)
c.3851G>A (p.Gly1284Asp)
c.3524G>A (p.Gly1175Asp)
n.577-2630C>T
c.*3622-2630C>T (n.*3622-2630C>T)
c.4238G>A (p.Gly1413Asp)
c.3362G>A (p.Gly1121Asp)
c.2711G>A (p.Gly904Asp)
c.2315G>A (p.Gly772Asp)
c.2057G>A (p.Gly686Asp)
c.3335G>A (p.Gly1112Asp)
10g.75029224G>CCA377296885DUSP29,KAT6Bc.4400G>C (p.Gly1467Ala)
c.3851G>C (p.Gly1284Ala)
c.3524G>C (p.Gly1175Ala)
n.577-2630C>G
c.*3622-2630C>G (n.*3622-2630C>G)
c.4238G>C (p.Gly1413Ala)
c.3362G>C (p.Gly1121Ala)
c.2711G>C (p.Gly904Ala)
c.2315G>C (p.Gly772Ala)
c.2057G>C (p.Gly686Ala)
c.3335G>C (p.Gly1112Ala)
10g.75029224G>TCA377296886DUSP29,KAT6Bc.4400G>T (p.Gly1467Val)
c.3851G>T (p.Gly1284Val)
c.3524G>T (p.Gly1175Val)
n.577-2630C>A
c.*3622-2630C>A (n.*3622-2630C>A)
c.4238G>T (p.Gly1413Val)
c.3362G>T (p.Gly1121Val)
c.2711G>T (p.Gly904Val)
c.2315G>T (p.Gly772Val)
c.2057G>T (p.Gly686Val)
c.3335G>T (p.Gly1112Val)
10g.75029225T>ACA470300430DUSP29,KAT6Bc.4401T>A (p.Gly1467=)
c.3852T>A (p.Gly1284=)
c.3525T>A (p.Gly1175=)
n.577-2631A>T
c.*3622-2631A>T (n.*3622-2631A>T)
c.4239T>A (p.Gly1413=)
c.3363T>A (p.Gly1121=)
c.2712T>A (p.Gly904=)
c.2316T>A (p.Gly772=)
c.2058T>A (p.Gly686=)
c.3336T>A (p.Gly1112=)
10g.75029225T>CCA470300431DUSP29,KAT6Bc.4401T>C (p.Gly1467=)
c.3852T>C (p.Gly1284=)
c.3525T>C (p.Gly1175=)
n.577-2631A>G
c.*3622-2631A>G (n.*3622-2631A>G)
c.4239T>C (p.Gly1413=)
c.3363T>C (p.Gly1121=)
c.2712T>C (p.Gly904=)
c.2316T>C (p.Gly772=)
c.2058T>C (p.Gly686=)
c.3336T>C (p.Gly1112=)
10g.75029225T>GCA470300432DUSP29,KAT6Bc.4401T>G (p.Gly1467=)
c.3852T>G (p.Gly1284=)
c.3525T>G (p.Gly1175=)
n.577-2631A>C
c.*3622-2631A>C (n.*3622-2631A>C)
c.4239T>G (p.Gly1413=)
c.3363T>G (p.Gly1121=)
c.2712T>G (p.Gly904=)
c.2316T>G (p.Gly772=)
c.2058T>G (p.Gly686=)
c.3336T>G (p.Gly1112=)
10g.75029226C>ACA377296887DUSP29,KAT6Bc.4402C>A (p.His1468Asn)
c.3853C>A (p.His1285Asn)
c.3526C>A (p.His1176Asn)
n.577-2632G>T
c.*3622-2632G>T (n.*3622-2632G>T)
c.4240C>A (p.His1414Asn)
c.3364C>A (p.His1122Asn)
c.2713C>A (p.His905Asn)
c.2317C>A (p.His773Asn)
c.2059C>A (p.His687Asn)
c.3337C>A (p.His1113Asn)
10g.75029226C>GCA377296888DUSP29,KAT6Bc.4402C>G (p.His1468Asp)
c.3853C>G (p.His1285Asp)
c.3526C>G (p.His1176Asp)
n.577-2632G>C
c.*3622-2632G>C (n.*3622-2632G>C)
c.4240C>G (p.His1414Asp)
c.3364C>G (p.His1122Asp)
c.2713C>G (p.His905Asp)
c.2317C>G (p.His773Asp)
c.2059C>G (p.His687Asp)
c.3337C>G (p.His1113Asp)
10g.75029226C>TCA377296889DUSP29,KAT6Bc.4402C>T (p.His1468Tyr)
c.3853C>T (p.His1285Tyr)
c.3526C>T (p.His1176Tyr)
n.577-2632G>A
c.*3622-2632G>A (n.*3622-2632G>A)
c.4240C>T (p.His1414Tyr)
c.3364C>T (p.His1122Tyr)
c.2713C>T (p.His905Tyr)
c.2317C>T (p.His773Tyr)
c.2059C>T (p.His687Tyr)
c.3337C>T (p.His1113Tyr)
 ClinVar
10g.75029227A=CA1920306649DUSP29,KAT6Bc.4403A= (p.His1468=)
c.3854A= (p.His1285=)
c.3527A= (p.His1176=)
n.577-2633T=
c.*3622-2633T= (n.*3622-2633T=)
c.4241A= (p.His1414=)
c.3365A= (p.His1122=)
c.2714A= (p.His905=)
c.2318A= (p.His773=)
c.2060A= (p.His687=)
c.3338A= (p.His1113=)
10g.75029227A>CCA377296892DUSP29,KAT6Bc.4403A>C (p.His1468Pro)
c.3854A>C (p.His1285Pro)
c.3527A>C (p.His1176Pro)
n.577-2633T>G
c.*3622-2633T>G (n.*3622-2633T>G)
c.4241A>C (p.His1414Pro)
c.3365A>C (p.His1122Pro)
c.2714A>C (p.His905Pro)
c.2318A>C (p.His773Pro)
c.2060A>C (p.His687Pro)
c.3338A>C (p.His1113Pro)
10g.75029227A>GCA377296890DUSP29,KAT6Bc.4403A>G (p.His1468Arg)
c.3854A>G (p.His1285Arg)
c.3527A>G (p.His1176Arg)
n.577-2633T>C
c.*3622-2633T>C (n.*3622-2633T>C)
c.4241A>G (p.His1414Arg)
c.3365A>G (p.His1122Arg)
c.2714A>G (p.His905Arg)
c.2318A>G (p.His773Arg)
c.2060A>G (p.His687Arg)
c.3338A>G (p.His1113Arg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.75029227A>TCA377296891DUSP29,KAT6Bc.4403A>T (p.His1468Leu)
c.3854A>T (p.His1285Leu)
c.3527A>T (p.His1176Leu)
n.577-2633T>A
c.*3622-2633T>A (n.*3622-2633T>A)
c.4241A>T (p.His1414Leu)
c.3365A>T (p.His1122Leu)
c.2714A>T (p.His905Leu)
c.2318A>T (p.His773Leu)
c.2060A>T (p.His687Leu)
c.3338A>T (p.His1113Leu)
10g.75029228C>ACA377296893DUSP29,KAT6Bc.4404C>A (p.His1468Gln)
c.3855C>A (p.His1285Gln)
c.3528C>A (p.His1176Gln)
n.577-2634G>T
c.*3622-2634G>T (n.*3622-2634G>T)
c.4242C>A (p.His1414Gln)
c.3366C>A (p.His1122Gln)
c.2715C>A (p.His905Gln)
c.2319C>A (p.His773Gln)
c.2061C>A (p.His687Gln)
c.3339C>A (p.His1113Gln)
10g.75029228C=CA1920306650DUSP29,KAT6Bc.4404C= (p.His1468=)
c.3855C= (p.His1285=)
c.3528C= (p.His1176=)
n.577-2634G=
c.*3622-2634G= (n.*3622-2634G=)
c.4242C= (p.His1414=)
c.3366C= (p.His1122=)
c.2715C= (p.His905=)
c.2319C= (p.His773=)
c.2061C= (p.His687=)
c.3339C= (p.His1113=)
10g.75029228C>GCA377296894DUSP29,KAT6Bc.4404C>G (p.His1468Gln)
c.3855C>G (p.His1285Gln)
c.3528C>G (p.His1176Gln)
n.577-2634G>C
c.*3622-2634G>C (n.*3622-2634G>C)
c.4242C>G (p.His1414Gln)
c.3366C>G (p.His1122Gln)
c.2715C>G (p.His905Gln)
c.2319C>G (p.His773Gln)
c.2061C>G (p.His687Gln)
c.3339C>G (p.His1113Gln)
 gnomAD v4
10g.75029228C>TCA470300441DUSP29,KAT6Bc.4404C>T (p.His1468=)
c.3855C>T (p.His1285=)
c.3528C>T (p.His1176=)
n.577-2634G>A
c.*3622-2634G>A (n.*3622-2634G>A)
c.4242C>T (p.His1414=)
c.3366C>T (p.His1122=)
c.2715C>T (p.His905=)
c.2319C>T (p.His773=)
c.2061C>T (p.His687=)
c.3339C>T (p.His1113=)
10g.75029229T>ACA377296895DUSP29,KAT6Bc.4405T>A (p.Ser1469Thr)
c.3856T>A (p.Ser1286Thr)
c.3529T>A (p.Ser1177Thr)
n.577-2635A>T
c.*3622-2635A>T (n.*3622-2635A>T)
c.4243T>A (p.Ser1415Thr)
c.3367T>A (p.Ser1123Thr)
c.2716T>A (p.Ser906Thr)
c.2320T>A (p.Ser774Thr)
c.2062T>A (p.Ser688Thr)
c.3340T>A (p.Ser1114Thr)
10g.75029229T>CCA377296896DUSP29,KAT6Bc.4405T>C (p.Ser1469Pro)
c.3856T>C (p.Ser1286Pro)
c.3529T>C (p.Ser1177Pro)
n.577-2635A>G
c.*3622-2635A>G (n.*3622-2635A>G)
c.4243T>C (p.Ser1415Pro)
c.3367T>C (p.Ser1123Pro)
c.2716T>C (p.Ser906Pro)
c.2320T>C (p.Ser774Pro)
c.2062T>C (p.Ser688Pro)
c.3340T>C (p.Ser1114Pro)
10g.75029229T>GCA377296897DUSP29,KAT6Bc.4405T>G (p.Ser1469Ala)
c.3856T>G (p.Ser1286Ala)
c.3529T>G (p.Ser1177Ala)
n.577-2635A>C
c.*3622-2635A>C (n.*3622-2635A>C)
c.4243T>G (p.Ser1415Ala)
c.3367T>G (p.Ser1123Ala)
c.2716T>G (p.Ser906Ala)
c.2320T>G (p.Ser774Ala)
c.2062T>G (p.Ser688Ala)
c.3340T>G (p.Ser1114Ala)
10g.75029229dupCA213029DUSP29,KAT6Bc.4405dup (p.Ser1469PhefsTer18)
c.3856dup (p.Ser1286PhefsTer18)
c.3529dup (p.Ser1177PhefsTer18)
n.577-2635dup
c.*3622-2635dup (n.*3622-2635dup)
c.4243dup (p.Ser1415PhefsTer18)
c.3367dup (p.Ser1123PhefsTer18)
c.2716dup (p.Ser906PhefsTer18)
c.2320dup (p.Ser774PhefsTer18)
c.2062dup (p.Ser688PhefsTer18)
c.3340dup (p.Ser1114PhefsTer18)
 ClinVar dbSNP
10g.75029230C>ACA377296898DUSP29,KAT6Bc.4406C>A (p.Ser1469Ter)
c.3857C>A (p.Ser1286Ter)
c.3530C>A (p.Ser1177Ter)
n.577-2636G>T
c.*3622-2636G>T (n.*3622-2636G>T)
c.4244C>A (p.Ser1415Ter)
c.3368C>A (p.Ser1123Ter)
c.2717C>A (p.Ser906Ter)
c.2321C>A (p.Ser774Ter)
c.2063C>A (p.Ser688Ter)
c.3341C>A (p.Ser1114Ter)
10g.75029230C=CA1920306651DUSP29,KAT6Bc.4406C= (p.Ser1469=)
c.3857C= (p.Ser1286=)
c.3530C= (p.Ser1177=)
n.577-2636G=
c.*3622-2636G= (n.*3622-2636G=)
c.4244C= (p.Ser1415=)
c.3368C= (p.Ser1123=)
c.2717C= (p.Ser906=)
c.2321C= (p.Ser774=)
c.2063C= (p.Ser688=)
c.3341C= (p.Ser1114=)
10g.75029230C>GCA377296899DUSP29,KAT6Bc.4406C>G (p.Ser1469Trp)
c.3857C>G (p.Ser1286Trp)
c.3530C>G (p.Ser1177Trp)
n.577-2636G>C
c.*3622-2636G>C (n.*3622-2636G>C)
c.4244C>G (p.Ser1415Trp)
c.3368C>G (p.Ser1123Trp)
c.2717C>G (p.Ser906Trp)
c.2321C>G (p.Ser774Trp)
c.2063C>G (p.Ser688Trp)
c.3341C>G (p.Ser1114Trp)
 gnomAD v4
10g.75029230C>TCA5565027DUSP29,KAT6Bc.4406C>T (p.Ser1469Leu)
c.3857C>T (p.Ser1286Leu)
c.3530C>T (p.Ser1177Leu)
n.577-2636G>A
c.*3622-2636G>A (n.*3622-2636G>A)
c.4244C>T (p.Ser1415Leu)
c.3368C>T (p.Ser1123Leu)
c.2717C>T (p.Ser906Leu)
c.2321C>T (p.Ser774Leu)
c.2063C>T (p.Ser688Leu)
c.3341C>T (p.Ser1114Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.75029231G>ACA5565028DUSP29,KAT6Bc.4407G>A (p.Ser1469=)
c.3858G>A (p.Ser1286=)
c.3531G>A (p.Ser1177=)
n.577-2637C>T
c.*3622-2637C>T (n.*3622-2637C>T)
c.4245G>A (p.Ser1415=)
c.3369G>A (p.Ser1123=)
c.2718G>A (p.Ser906=)
c.2322G>A (p.Ser774=)
c.2064G>A (p.Ser688=)
c.3342G>A (p.Ser1114=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.75029231G>CCA470300450DUSP29,KAT6Bc.4407G>C (p.Ser1469=)
c.3858G>C (p.Ser1286=)
c.3531G>C (p.Ser1177=)
n.577-2637C>G
c.*3622-2637C>G (n.*3622-2637C>G)
c.4245G>C (p.Ser1415=)
c.3369G>C (p.Ser1123=)
c.2718G>C (p.Ser906=)
c.2322G>C (p.Ser774=)
c.2064G>C (p.Ser688=)
c.3342G>C (p.Ser1114=)
10g.75029231G=CA1920306652DUSP29,KAT6Bc.4407G= (p.Ser1469=)
c.3858G= (p.Ser1286=)
c.3531G= (p.Ser1177=)
n.577-2637C=
c.*3622-2637C= (n.*3622-2637C=)
c.4245G= (p.Ser1415=)
c.3369G= (p.Ser1123=)
c.2718G= (p.Ser906=)
c.2322G= (p.Ser774=)
c.2064G= (p.Ser688=)
c.3342G= (p.Ser1114=)
10g.75029231G>TCA470300451DUSP29,KAT6Bc.4407G>T (p.Ser1469=)
c.3858G>T (p.Ser1286=)
c.3531G>T (p.Ser1177=)
n.577-2637C>A
c.*3622-2637C>A (n.*3622-2637C>A)
c.4245G>T (p.Ser1415=)
c.3369G>T (p.Ser1123=)
c.2718G>T (p.Ser906=)
c.2322G>T (p.Ser774=)
c.2064G>T (p.Ser688=)
c.3342G>T (p.Ser1114=)
 dbSNP gnomAD v4
10g.75029232A>CCA377296900DUSP29,KAT6Bc.4408A>C (p.Asn1470His)
c.3859A>C (p.Asn1287His)
c.3532A>C (p.Asn1178His)
n.577-2638T>G
c.*3622-2638T>G (n.*3622-2638T>G)
c.4246A>C (p.Asn1416His)
c.3370A>C (p.Asn1124His)
c.2719A>C (p.Asn907His)
c.2323A>C (p.Asn775His)
c.2065A>C (p.Asn689His)
c.3343A>C (p.Asn1115His)
10g.75029232A>GCA377296901DUSP29,KAT6Bc.4408A>G (p.Asn1470Asp)
c.3859A>G (p.Asn1287Asp)
c.3532A>G (p.Asn1178Asp)
n.577-2638T>C
c.*3622-2638T>C (n.*3622-2638T>C)
c.4246A>G (p.Asn1416Asp)
c.3370A>G (p.Asn1124Asp)
c.2719A>G (p.Asn907Asp)
c.2323A>G (p.Asn775Asp)
c.2065A>G (p.Asn689Asp)
c.3343A>G (p.Asn1115Asp)
10g.75029232A>TCA377296902DUSP29,KAT6Bc.4408A>T (p.Asn1470Tyr)
c.3859A>T (p.Asn1287Tyr)
c.3532A>T (p.Asn1178Tyr)
n.577-2638T>A
c.*3622-2638T>A (n.*3622-2638T>A)
c.4246A>T (p.Asn1416Tyr)
c.3370A>T (p.Asn1124Tyr)
c.2719A>T (p.Asn907Tyr)
c.2323A>T (p.Asn775Tyr)
c.2065A>T (p.Asn689Tyr)
c.3343A>T (p.Asn1115Tyr)
10g.75029233A>CCA377296903DUSP29,KAT6Bc.4409A>C (p.Asn1470Thr)
c.3860A>C (p.Asn1287Thr)
c.3533A>C (p.Asn1178Thr)
n.577-2639T>G
c.*3622-2639T>G (n.*3622-2639T>G)
c.4247A>C (p.Asn1416Thr)
c.3371A>C (p.Asn1124Thr)
c.2720A>C (p.Asn907Thr)
c.2324A>C (p.Asn775Thr)
c.2066A>C (p.Asn689Thr)
c.3344A>C (p.Asn1115Thr)
10g.75029233A>GCA377296904DUSP29,KAT6Bc.4409A>G (p.Asn1470Ser)
c.3860A>G (p.Asn1287Ser)
c.3533A>G (p.Asn1178Ser)
n.577-2639T>C
c.*3622-2639T>C (n.*3622-2639T>C)
c.4247A>G (p.Asn1416Ser)
c.3371A>G (p.Asn1124Ser)
c.2720A>G (p.Asn907Ser)
c.2324A>G (p.Asn775Ser)
c.2066A>G (p.Asn689Ser)
c.3344A>G (p.Asn1115Ser)
10g.75029233A>TCA377296905DUSP29,KAT6Bc.4409A>T (p.Asn1470Ile)
c.3860A>T (p.Asn1287Ile)
c.3533A>T (p.Asn1178Ile)
n.577-2639T>A
c.*3622-2639T>A (n.*3622-2639T>A)
c.4247A>T (p.Asn1416Ile)
c.3371A>T (p.Asn1124Ile)
c.2720A>T (p.Asn907Ile)
c.2324A>T (p.Asn775Ile)
c.2066A>T (p.Asn689Ile)
c.3344A>T (p.Asn1115Ile)
10g.75029234C>ACA377296906DUSP29,KAT6Bc.4410C>A (p.Asn1470Lys)
c.3861C>A (p.Asn1287Lys)
c.3534C>A (p.Asn1178Lys)
n.577-2640G>T
c.*3622-2640G>T (n.*3622-2640G>T)
c.4248C>A (p.Asn1416Lys)
c.3372C>A (p.Asn1124Lys)
c.2721C>A (p.Asn907Lys)
c.2325C>A (p.Asn775Lys)
c.2067C>A (p.Asn689Lys)
c.3345C>A (p.Asn1115Lys)
10g.75029234C>GCA377296907DUSP29,KAT6Bc.4410C>G (p.Asn1470Lys)
c.3861C>G (p.Asn1287Lys)
c.3534C>G (p.Asn1178Lys)
n.577-2640G>C
c.*3622-2640G>C (n.*3622-2640G>C)
c.4248C>G (p.Asn1416Lys)
c.3372C>G (p.Asn1124Lys)
c.2721C>G (p.Asn907Lys)
c.2325C>G (p.Asn775Lys)
c.2067C>G (p.Asn689Lys)
c.3345C>G (p.Asn1115Lys)
 gnomAD v4
10g.75029234C>TCA470300460DUSP29,KAT6Bc.4410C>T (p.Asn1470=)
c.3861C>T (p.Asn1287=)
c.3534C>T (p.Asn1178=)
n.577-2640G>A
c.*3622-2640G>A (n.*3622-2640G>A)
c.4248C>T (p.Asn1416=)
c.3372C>T (p.Asn1124=)
c.2721C>T (p.Asn907=)
c.2325C>T (p.Asn775=)
c.2067C>T (p.Asn689=)
c.3345C>T (p.Asn1115=)
10g.75029235C>ACA377296908DUSP29,KAT6Bc.4411C>A (p.Pro1471Thr)
c.3862C>A (p.Pro1288Thr)
c.3535C>A (p.Pro1179Thr)
n.577-2641G>T
c.*3622-2641G>T (n.*3622-2641G>T)
c.4249C>A (p.Pro1417Thr)
c.3373C>A (p.Pro1125Thr)
c.2722C>A (p.Pro908Thr)
c.2326C>A (p.Pro776Thr)
c.2068C>A (p.Pro690Thr)
c.3346C>A (p.Pro1116Thr)
10g.75029235C>GCA377296910DUSP29,KAT6Bc.4411C>G (p.Pro1471Ala)
c.3862C>G (p.Pro1288Ala)
c.3535C>G (p.Pro1179Ala)
n.577-2641G>C
c.*3622-2641G>C (n.*3622-2641G>C)
c.4249C>G (p.Pro1417Ala)
c.3373C>G (p.Pro1125Ala)
c.2722C>G (p.Pro908Ala)
c.2326C>G (p.Pro776Ala)
c.2068C>G (p.Pro690Ala)
c.3346C>G (p.Pro1116Ala)
10g.75029235C>TCA377296912DUSP29,KAT6Bc.4411C>T (p.Pro1471Ser)
c.3862C>T (p.Pro1288Ser)
c.3535C>T (p.Pro1179Ser)
n.577-2641G>A
c.*3622-2641G>A (n.*3622-2641G>A)
c.4249C>T (p.Pro1417Ser)
c.3373C>T (p.Pro1125Ser)
c.2722C>T (p.Pro908Ser)
c.2326C>T (p.Pro776Ser)
c.2068C>T (p.Pro690Ser)
c.3346C>T (p.Pro1116Ser)
 gnomAD v4
10g.75029236C>ACA377296917DUSP29,KAT6Bc.4412C>A (p.Pro1471Gln)
c.3863C>A (p.Pro1288Gln)
c.3536C>A (p.Pro1179Gln)
n.577-2642G>T
c.*3622-2642G>T (n.*3622-2642G>T)
c.4250C>A (p.Pro1417Gln)
c.3374C>A (p.Pro1125Gln)
c.2723C>A (p.Pro908Gln)
c.2327C>A (p.Pro776Gln)
c.2069C>A (p.Pro690Gln)
c.3347C>A (p.Pro1116Gln)
10g.75029236C>GCA377296918DUSP29,KAT6Bc.4412C>G (p.Pro1471Arg)
c.3863C>G (p.Pro1288Arg)
c.3536C>G (p.Pro1179Arg)
n.577-2642G>C
c.*3622-2642G>C (n.*3622-2642G>C)
c.4250C>G (p.Pro1417Arg)
c.3374C>G (p.Pro1125Arg)
c.2723C>G (p.Pro908Arg)
c.2327C>G (p.Pro776Arg)
c.2069C>G (p.Pro690Arg)
c.3347C>G (p.Pro1116Arg)
 gnomAD v4
10g.75029236C>TCA377296915DUSP29,KAT6Bc.4412C>T (p.Pro1471Leu)
c.3863C>T (p.Pro1288Leu)
c.3536C>T (p.Pro1179Leu)
n.577-2642G>A
c.*3622-2642G>A (n.*3622-2642G>A)
c.4250C>T (p.Pro1417Leu)
c.3374C>T (p.Pro1125Leu)
c.2723C>T (p.Pro908Leu)
c.2327C>T (p.Pro776Leu)
c.2069C>T (p.Pro690Leu)
c.3347C>T (p.Pro1116Leu)
10g.75029237A>CCA470300466DUSP29,KAT6Bc.4413A>C (p.Pro1471=)
c.3864A>C (p.Pro1288=)
c.3537A>C (p.Pro1179=)
n.577-2643T>G
c.*3622-2643T>G (n.*3622-2643T>G)
c.4251A>C (p.Pro1417=)
c.3375A>C (p.Pro1125=)
c.2724A>C (p.Pro908=)
c.2328A>C (p.Pro776=)
c.2070A>C (p.Pro690=)
c.3348A>C (p.Pro1116=)
10g.75029237A>GCA470300467DUSP29,KAT6Bc.4413A>G (p.Pro1471=)
c.3864A>G (p.Pro1288=)
c.3537A>G (p.Pro1179=)
n.577-2643T>C
c.*3622-2643T>C (n.*3622-2643T>C)
c.4251A>G (p.Pro1417=)
c.3375A>G (p.Pro1125=)
c.2724A>G (p.Pro908=)
c.2328A>G (p.Pro776=)
c.2070A>G (p.Pro690=)
c.3348A>G (p.Pro1116=)
10g.75029237A>TCA470300468DUSP29,KAT6Bc.4413A>T (p.Pro1471=)
c.3864A>T (p.Pro1288=)
c.3537A>T (p.Pro1179=)
n.577-2643T>A
c.*3622-2643T>A (n.*3622-2643T>A)
c.4251A>T (p.Pro1417=)
c.3375A>T (p.Pro1125=)
c.2724A>T (p.Pro908=)
c.2328A>T (p.Pro776=)
c.2070A>T (p.Pro690=)
c.3348A>T (p.Pro1116=)
10g.75029238G>ACA377296921DUSP29,KAT6Bc.4414G>A (p.Glu1472Lys)
c.3865G>A (p.Glu1289Lys)
c.3538G>A (p.Glu1180Lys)
n.577-2644C>T
c.*3622-2644C>T (n.*3622-2644C>T)
c.4252G>A (p.Glu1418Lys)
c.3376G>A (p.Glu1126Lys)
c.2725G>A (p.Glu909Lys)
c.2329G>A (p.Glu777Lys)
c.2071G>A (p.Glu691Lys)
c.3349G>A (p.Glu1117Lys)
10g.75029238G>CCA5565029DUSP29,KAT6Bc.4414G>C (p.Glu1472Gln)
c.3865G>C (p.Glu1289Gln)
c.3538G>C (p.Glu1180Gln)
n.577-2644C>G
c.*3622-2644C>G (n.*3622-2644C>G)
c.4252G>C (p.Glu1418Gln)
c.3376G>C (p.Glu1126Gln)
c.2725G>C (p.Glu909Gln)
c.2329G>C (p.Glu777Gln)
c.2071G>C (p.Glu691Gln)
c.3349G>C (p.Glu1117Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
10g.75029238G=CA1920306653DUSP29,KAT6Bc.4414G= (p.Glu1472=)
c.3865G= (p.Glu1289=)
c.3538G= (p.Glu1180=)
n.577-2644C=
c.*3622-2644C= (n.*3622-2644C=)
c.4252G= (p.Glu1418=)
c.3376G= (p.Glu1126=)
c.2725G= (p.Glu909=)
c.2329G= (p.Glu777=)
c.2071G= (p.Glu691=)
c.3349G= (p.Glu1117=)
10g.75029238G>TCA377296923DUSP29,KAT6Bc.4414G>T (p.Glu1472Ter)
c.3865G>T (p.Glu1289Ter)
c.3538G>T (p.Glu1180Ter)
n.577-2644C>A
c.*3622-2644C>A (n.*3622-2644C>A)
c.4252G>T (p.Glu1418Ter)
c.3376G>T (p.Glu1126Ter)
c.2725G>T (p.Glu909Ter)
c.2329G>T (p.Glu777Ter)
c.2071G>T (p.Glu691Ter)
c.3349G>T (p.Glu1117Ter)
10g.75029239A>CCA377296926DUSP29,KAT6Bc.4415A>C (p.Glu1472Ala)
c.3866A>C (p.Glu1289Ala)
c.3539A>C (p.Glu1180Ala)
n.577-2645T>G
c.*3622-2645T>G (n.*3622-2645T>G)
c.4253A>C (p.Glu1418Ala)
c.3377A>C (p.Glu1126Ala)
c.2726A>C (p.Glu909Ala)
c.2330A>C (p.Glu777Ala)
c.2072A>C (p.Glu691Ala)
c.3350A>C (p.Glu1117Ala)
10g.75029239A>GCA377296931DUSP29,KAT6Bc.4415A>G (p.Glu1472Gly)
c.3866A>G (p.Glu1289Gly)
c.3539A>G (p.Glu1180Gly)
n.577-2645T>C
c.*3622-2645T>C (n.*3622-2645T>C)
c.4253A>G (p.Glu1418Gly)
c.3377A>G (p.Glu1126Gly)
c.2726A>G (p.Glu909Gly)
c.2330A>G (p.Glu777Gly)
c.2072A>G (p.Glu691Gly)
c.3350A>G (p.Glu1117Gly)
10g.75029239A>TCA377296929DUSP29,KAT6Bc.4415A>T (p.Glu1472Val)
c.3866A>T (p.Glu1289Val)
c.3539A>T (p.Glu1180Val)
n.577-2645T>A
c.*3622-2645T>A (n.*3622-2645T>A)
c.4253A>T (p.Glu1418Val)
c.3377A>T (p.Glu1126Val)
c.2726A>T (p.Glu909Val)
c.2330A>T (p.Glu777Val)
c.2072A>T (p.Glu691Val)
c.3350A>T (p.Glu1117Val)
10g.75029240G>ACA470300473DUSP29,KAT6Bc.4416G>A (p.Glu1472=)
c.3867G>A (p.Glu1289=)
c.3540G>A (p.Glu1180=)
n.577-2646C>T
c.*3622-2646C>T (n.*3622-2646C>T)
c.4254G>A (p.Glu1418=)
c.3378G>A (p.Glu1126=)
c.2727G>A (p.Glu909=)
c.2331G>A (p.Glu777=)
c.2073G>A (p.Glu691=)
c.3351G>A (p.Glu1117=)
 COSMIC
10g.75029240G>CCA377296933DUSP29,KAT6Bc.4416G>C (p.Glu1472Asp)
c.3867G>C (p.Glu1289Asp)
c.3540G>C (p.Glu1180Asp)
n.577-2646C>G
c.*3622-2646C>G (n.*3622-2646C>G)
c.4254G>C (p.Glu1418Asp)
c.3378G>C (p.Glu1126Asp)
c.2727G>C (p.Glu909Asp)
c.2331G>C (p.Glu777Asp)
c.2073G>C (p.Glu691Asp)
c.3351G>C (p.Glu1117Asp)
10g.75029240G>TCA377296935DUSP29,KAT6Bc.4416G>T (p.Glu1472Asp)
c.3867G>T (p.Glu1289Asp)
c.3540G>T (p.Glu1180Asp)
n.577-2646C>A
c.*3622-2646C>A (n.*3622-2646C>A)
c.4254G>T (p.Glu1418Asp)
c.3378G>T (p.Glu1126Asp)
c.2727G>T (p.Glu909Asp)
c.2331G>T (p.Glu777Asp)
c.2073G>T (p.Glu691Asp)
c.3351G>T (p.Glu1117Asp)
10g.75029241G>ACA377296936DUSP29,KAT6Bc.4417G>A (p.Val1473Ile)
c.3868G>A (p.Val1290Ile)
c.3541G>A (p.Val1181Ile)
n.577-2647C>T
c.*3622-2647C>T (n.*3622-2647C>T)
c.4255G>A (p.Val1419Ile)
c.3379G>A (p.Val1127Ile)
c.2728G>A (p.Val910Ile)
c.2332G>A (p.Val778Ile)
c.2074G>A (p.Val692Ile)
c.3352G>A (p.Val1118Ile)
10g.75029241G>CCA377296937DUSP29,KAT6Bc.4417G>C (p.Val1473Leu)
c.3868G>C (p.Val1290Leu)
c.3541G>C (p.Val1181Leu)
n.577-2647C>G
c.*3622-2647C>G (n.*3622-2647C>G)
c.4255G>C (p.Val1419Leu)
c.3379G>C (p.Val1127Leu)
c.2728G>C (p.Val910Leu)
c.2332G>C (p.Val778Leu)
c.2074G>C (p.Val692Leu)
c.3352G>C (p.Val1118Leu)
10g.75029241G>TCA377296939DUSP29,KAT6Bc.4417G>T (p.Val1473Phe)
c.3868G>T (p.Val1290Phe)
c.3541G>T (p.Val1181Phe)
n.577-2647C>A
c.*3622-2647C>A (n.*3622-2647C>A)
c.4255G>T (p.Val1419Phe)
c.3379G>T (p.Val1127Phe)
c.2728G>T (p.Val910Phe)
c.2332G>T (p.Val778Phe)
c.2074G>T (p.Val692Phe)
c.3352G>T (p.Val1118Phe)
10g.75029242T>ACA377296941DUSP29,KAT6Bc.4418T>A (p.Val1473Asp)
c.3869T>A (p.Val1290Asp)
c.3542T>A (p.Val1181Asp)
n.577-2648A>T
c.*3622-2648A>T (n.*3622-2648A>T)
c.4256T>A (p.Val1419Asp)
c.3380T>A (p.Val1127Asp)
c.2729T>A (p.Val910Asp)
c.2333T>A (p.Val778Asp)
c.2075T>A (p.Val692Asp)
c.3353T>A (p.Val1118Asp)
 gnomAD v4
10g.75029242T>CCA377296943DUSP29,KAT6Bc.4418T>C (p.Val1473Ala)
c.3869T>C (p.Val1290Ala)
c.3542T>C (p.Val1181Ala)
n.577-2648A>G
c.*3622-2648A>G (n.*3622-2648A>G)
c.4256T>C (p.Val1419Ala)
c.3380T>C (p.Val1127Ala)
c.2729T>C (p.Val910Ala)
c.2333T>C (p.Val778Ala)
c.2075T>C (p.Val692Ala)
c.3353T>C (p.Val1118Ala)
10g.75029242T>GCA377296945DUSP29,KAT6Bc.4418T>G (p.Val1473Gly)
c.3869T>G (p.Val1290Gly)
c.3542T>G (p.Val1181Gly)
n.577-2648A>C
c.*3622-2648A>C (n.*3622-2648A>C)
c.4256T>G (p.Val1419Gly)
c.3380T>G (p.Val1127Gly)
c.2729T>G (p.Val910Gly)
c.2333T>G (p.Val778Gly)
c.2075T>G (p.Val692Gly)
c.3353T>G (p.Val1118Gly)
10g.75029243C>ACA470300477DUSP29,KAT6Bc.4419C>A (p.Val1473=)
c.3870C>A (p.Val1290=)
c.3543C>A (p.Val1181=)
n.577-2649G>T
c.*3622-2649G>T (n.*3622-2649G>T)
c.4257C>A (p.Val1419=)
c.3381C>A (p.Val1127=)
c.2730C>A (p.Val910=)
c.2334C>A (p.Val778=)
c.2076C>A (p.Val692=)
c.3354C>A (p.Val1118=)
 dbSNP gnomAD v4
10g.75029243C=CA1920306654DUSP29,KAT6Bc.4419C= (p.Val1473=)
c.3870C= (p.Val1290=)
c.3543C= (p.Val1181=)
n.577-2649G=
c.*3622-2649G= (n.*3622-2649G=)
c.4257C= (p.Val1419=)
c.3381C= (p.Val1127=)
c.2730C= (p.Val910=)
c.2334C= (p.Val778=)
c.2076C= (p.Val692=)
c.3354C= (p.Val1118=)
10g.75029243C>GCA470300478DUSP29,KAT6Bc.4419C>G (p.Val1473=)
c.3870C>G (p.Val1290=)
c.3543C>G (p.Val1181=)
n.577-2649G>C
c.*3622-2649G>C (n.*3622-2649G>C)
c.4257C>G (p.Val1419=)
c.3381C>G (p.Val1127=)
c.2730C>G (p.Val910=)
c.2334C>G (p.Val778=)
c.2076C>G (p.Val692=)
c.3354C>G (p.Val1118=)
10g.75029243C>TCA470300479DUSP29,KAT6Bc.4419C>T (p.Val1473=)
c.3870C>T (p.Val1290=)
c.3543C>T (p.Val1181=)
n.577-2649G>A
c.*3622-2649G>A (n.*3622-2649G>A)
c.4257C>T (p.Val1419=)
c.3381C>T (p.Val1127=)
c.2730C>T (p.Val910=)
c.2334C>T (p.Val778=)
c.2076C>T (p.Val692=)
c.3354C>T (p.Val1118=)
10g.75029244T>ACA377296947DUSP29,KAT6Bc.4420T>A (p.Leu1474Ile)
c.3871T>A (p.Leu1291Ile)
c.3544T>A (p.Leu1182Ile)
n.577-2650A>T
c.*3622-2650A>T (n.*3622-2650A>T)
c.4258T>A (p.Leu1420Ile)
c.3382T>A (p.Leu1128Ile)
c.2731T>A (p.Leu911Ile)
c.2335T>A (p.Leu779Ile)
c.2077T>A (p.Leu693Ile)
c.3355T>A (p.Leu1119Ile)
10g.75029244T>CCA470300487DUSP29,KAT6Bc.4420T>C (p.Leu1474=)
c.3871T>C (p.Leu1291=)
c.3544T>C (p.Leu1182=)
n.577-2650A>G
c.*3622-2650A>G (n.*3622-2650A>G)
c.4258T>C (p.Leu1420=)
c.3382T>C (p.Leu1128=)
c.2731T>C (p.Leu911=)
c.2335T>C (p.Leu779=)
c.2077T>C (p.Leu693=)
c.3355T>C (p.Leu1119=)
10g.75029244T>GCA377296949DUSP29,KAT6Bc.4420T>G (p.Leu1474Val)
c.3871T>G (p.Leu1291Val)
c.3544T>G (p.Leu1182Val)
n.577-2650A>C
c.*3622-2650A>C (n.*3622-2650A>C)
c.4258T>G (p.Leu1420Val)
c.3382T>G (p.Leu1128Val)
c.2731T>G (p.Leu911Val)
c.2335T>G (p.Leu779Val)
c.2077T>G (p.Leu693Val)
c.3355T>G (p.Leu1119Val)
 ClinVar dbSNP
10g.75029244T=CA1920306655DUSP29,KAT6Bc.4420T= (p.Leu1474=)
c.3871T= (p.Leu1291=)
c.3544T= (p.Leu1182=)
n.577-2650A=
c.*3622-2650A= (n.*3622-2650A=)
c.4258T= (p.Leu1420=)
c.3382T= (p.Leu1128=)
c.2731T= (p.Leu911=)
c.2335T= (p.Leu779=)
c.2077T= (p.Leu693=)
c.3355T= (p.Leu1119=)
10g.75029245T>ACA377296954DUSP29,KAT6Bc.4421T>A (p.Leu1474Ter)
c.3872T>A (p.Leu1291Ter)
c.3545T>A (p.Leu1182Ter)
n.577-2651A>T
c.*3622-2651A>T (n.*3622-2651A>T)
c.4259T>A (p.Leu1420Ter)
c.3383T>A (p.Leu1128Ter)
c.2732T>A (p.Leu911Ter)
c.2336T>A (p.Leu779Ter)
c.2078T>A (p.Leu693Ter)
c.3356T>A (p.Leu1119Ter)
10g.75029245T>CCA377296953DUSP29,KAT6Bc.4421T>C (p.Leu1474Ser)
c.3872T>C (p.Leu1291Ser)
c.3545T>C (p.Leu1182Ser)
n.577-2651A>G
c.*3622-2651A>G (n.*3622-2651A>G)
c.4259T>C (p.Leu1420Ser)
c.3383T>C (p.Leu1128Ser)
c.2732T>C (p.Leu911Ser)
c.2336T>C (p.Leu779Ser)
c.2078T>C (p.Leu693Ser)
c.3356T>C (p.Leu1119Ser)
10g.75029245T>GCA377296950DUSP29,KAT6Bc.4421T>G (p.Leu1474Ter)
c.3872T>G (p.Leu1291Ter)
c.3545T>G (p.Leu1182Ter)
n.577-2651A>C
c.*3622-2651A>C (n.*3622-2651A>C)
c.4259T>G (p.Leu1420Ter)
c.3383T>G (p.Leu1128Ter)
c.2732T>G (p.Leu911Ter)
c.2336T>G (p.Leu779Ter)
c.2078T>G (p.Leu693Ter)
c.3356T>G (p.Leu1119Ter)
10g.75029246A>CCA377296957DUSP29,KAT6Bc.4422A>C (p.Leu1474Phe)
c.3873A>C (p.Leu1291Phe)
c.3546A>C (p.Leu1182Phe)
n.577-2652T>G
c.*3622-2652T>G (n.*3622-2652T>G)
c.4260A>C (p.Leu1420Phe)
c.3384A>C (p.Leu1128Phe)
c.2733A>C (p.Leu911Phe)
c.2337A>C (p.Leu779Phe)
c.2079A>C (p.Leu693Phe)
c.3357A>C (p.Leu1119Phe)
10g.75029246A>GCA470300495DUSP29,KAT6Bc.4422A>G (p.Leu1474=)
c.3873A>G (p.Leu1291=)
c.3546A>G (p.Leu1182=)
n.577-2652T>C
c.*3622-2652T>C (n.*3622-2652T>C)
c.4260A>G (p.Leu1420=)
c.3384A>G (p.Leu1128=)
c.2733A>G (p.Leu911=)
c.2337A>G (p.Leu779=)
c.2079A>G (p.Leu693=)
c.3357A>G (p.Leu1119=)
 COSMIC
10g.75029246A>TCA377296959DUSP29,KAT6Bc.4422A>T (p.Leu1474Phe)
c.3873A>T (p.Leu1291Phe)
c.3546A>T (p.Leu1182Phe)
n.577-2652T>A
c.*3622-2652T>A (n.*3622-2652T>A)
c.4260A>T (p.Leu1420Phe)
c.3384A>T (p.Leu1128Phe)
c.2733A>T (p.Leu911Phe)
c.2337A>T (p.Leu779Phe)
c.2079A>T (p.Leu693Phe)
c.3357A>T (p.Leu1119Phe)
10g.75029247A=CA1920306656DUSP29,KAT6Bc.4423A= (p.Met1475=)
c.3874A= (p.Met1292=)
c.3547A= (p.Met1183=)
n.577-2653T=
c.*3622-2653T= (n.*3622-2653T=)
c.4261A= (p.Met1421=)
c.3385A= (p.Met1129=)
c.2734A= (p.Met912=)
c.2338A= (p.Met780=)
c.2080A= (p.Met694=)
c.3358A= (p.Met1120=)
10g.75029247A>CCA377296961DUSP29,KAT6Bc.4423A>C (p.Met1475Leu)
c.3874A>C (p.Met1292Leu)
c.3547A>C (p.Met1183Leu)
n.577-2653T>G
c.*3622-2653T>G (n.*3622-2653T>G)
c.4261A>C (p.Met1421Leu)
c.3385A>C (p.Met1129Leu)
c.2734A>C (p.Met912Leu)
c.2338A>C (p.Met780Leu)
c.2080A>C (p.Met694Leu)
c.3358A>C (p.Met1120Leu)
10g.75029247A>GCA5565030DUSP29,KAT6Bc.4423A>G (p.Met1475Val)
c.3874A>G (p.Met1292Val)
c.3547A>G (p.Met1183Val)
n.577-2653T>C
c.*3622-2653T>C (n.*3622-2653T>C)
c.4261A>G (p.Met1421Val)
c.3385A>G (p.Met1129Val)
c.2734A>G (p.Met912Val)
c.2338A>G (p.Met780Val)
c.2080A>G (p.Met694Val)
c.3358A>G (p.Met1120Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.75029247A>TCA377296965DUSP29,KAT6Bc.4423A>T (p.Met1475Leu)
c.3874A>T (p.Met1292Leu)
c.3547A>T (p.Met1183Leu)
n.577-2653T>A
c.*3622-2653T>A (n.*3622-2653T>A)
c.4261A>T (p.Met1421Leu)
c.3385A>T (p.Met1129Leu)
c.2734A>T (p.Met912Leu)
c.2338A>T (p.Met780Leu)
c.2080A>T (p.Met694Leu)
c.3358A>T (p.Met1120Leu)
10g.75029248T>ACA377296968DUSP29,KAT6Bc.4424T>A (p.Met1475Lys)
c.3875T>A (p.Met1292Lys)
c.3548T>A (p.Met1183Lys)
n.577-2654A>T
c.*3622-2654A>T (n.*3622-2654A>T)
c.4262T>A (p.Met1421Lys)
c.3386T>A (p.Met1129Lys)
c.2735T>A (p.Met912Lys)
c.2339T>A (p.Met780Lys)
c.2081T>A (p.Met694Lys)
c.3359T>A (p.Met1120Lys)
10g.75029248T>CCA377296969DUSP29,KAT6Bc.4424T>C (p.Met1475Thr)
c.3875T>C (p.Met1292Thr)
c.3548T>C (p.Met1183Thr)
n.577-2654A>G
c.*3622-2654A>G (n.*3622-2654A>G)
c.4262T>C (p.Met1421Thr)
c.3386T>C (p.Met1129Thr)
c.2735T>C (p.Met912Thr)
c.2339T>C (p.Met780Thr)
c.2081T>C (p.Met694Thr)
c.3359T>C (p.Met1120Thr)
 gnomAD v4
10g.75029248T>GCA377296971DUSP29,KAT6Bc.4424T>G (p.Met1475Arg)
c.3875T>G (p.Met1292Arg)
c.3548T>G (p.Met1183Arg)
n.577-2654A>C
c.*3622-2654A>C (n.*3622-2654A>C)
c.4262T>G (p.Met1421Arg)
c.3386T>G (p.Met1129Arg)
c.2735T>G (p.Met912Arg)
c.2339T>G (p.Met780Arg)
c.2081T>G (p.Met694Arg)
c.3359T>G (p.Met1120Arg)
 gnomAD v4
10g.75029249G>ACA377296974DUSP29,KAT6Bc.4425G>A (p.Met1475Ile)
c.3876G>A (p.Met1292Ile)
c.3549G>A (p.Met1183Ile)
n.577-2655C>T
c.*3622-2655C>T (n.*3622-2655C>T)
c.4263G>A (p.Met1421Ile)
c.3387G>A (p.Met1129Ile)
c.2736G>A (p.Met912Ile)
c.2340G>A (p.Met780Ile)
c.2082G>A (p.Met694Ile)
c.3360G>A (p.Met1120Ile)
10g.75029249G>CCA377296975DUSP29,KAT6Bc.4425G>C (p.Met1475Ile)
c.3876G>C (p.Met1292Ile)
c.3549G>C (p.Met1183Ile)
n.577-2655C>G
c.*3622-2655C>G (n.*3622-2655C>G)
c.4263G>C (p.Met1421Ile)
c.3387G>C (p.Met1129Ile)
c.2736G>C (p.Met912Ile)
c.2340G>C (p.Met780Ile)
c.2082G>C (p.Met694Ile)
c.3360G>C (p.Met1120Ile)
10g.75029249G>TCA377296979DUSP29,KAT6Bc.4425G>T (p.Met1475Ile)
c.3876G>T (p.Met1292Ile)
c.3549G>T (p.Met1183Ile)
n.577-2655C>A
c.*3622-2655C>A (n.*3622-2655C>A)
c.4263G>T (p.Met1421Ile)
c.3387G>T (p.Met1129Ile)
c.2736G>T (p.Met912Ile)
c.2340G>T (p.Met780Ile)
c.2082G>T (p.Met694Ile)
c.3360G>T (p.Met1120Ile)
10g.75029250G>ACA377296983DUSP29,KAT6Bc.4426G>A (p.Asp1476Asn)
c.3877G>A (p.Asp1293Asn)
c.3550G>A (p.Asp1184Asn)
n.577-2656C>T
c.*3622-2656C>T (n.*3622-2656C>T)
c.4264G>A (p.Asp1422Asn)
c.3388G>A (p.Asp1130Asn)
c.2737G>A (p.Asp913Asn)
c.2341G>A (p.Asp781Asn)
c.2083G>A (p.Asp695Asn)
c.3361G>A (p.Asp1121Asn)
 gnomAD v4
10g.75029250G>CCA377296984DUSP29,KAT6Bc.4426G>C (p.Asp1476His)
c.3877G>C (p.Asp1293His)
c.3550G>C (p.Asp1184His)
n.577-2656C>G
c.*3622-2656C>G (n.*3622-2656C>G)
c.4264G>C (p.Asp1422His)
c.3388G>C (p.Asp1130His)
c.2737G>C (p.Asp913His)
c.2341G>C (p.Asp781His)
c.2083G>C (p.Asp695His)
c.3361G>C (p.Asp1121His)
10g.75029250G>TCA377296981DUSP29,KAT6Bc.4426G>T (p.Asp1476Tyr)
c.3877G>T (p.Asp1293Tyr)
c.3550G>T (p.Asp1184Tyr)
n.577-2656C>A
c.*3622-2656C>A (n.*3622-2656C>A)
c.4264G>T (p.Asp1422Tyr)
c.3388G>T (p.Asp1130Tyr)
c.2737G>T (p.Asp913Tyr)
c.2341G>T (p.Asp781Tyr)
c.2083G>T (p.Asp695Tyr)
c.3361G>T (p.Asp1121Tyr)
10g.75029251A>CCA377296986DUSP29,KAT6Bc.4427A>C (p.Asp1476Ala)
c.3878A>C (p.Asp1293Ala)
c.3551A>C (p.Asp1184Ala)
n.577-2657T>G
c.*3622-2657T>G (n.*3622-2657T>G)
c.4265A>C (p.Asp1422Ala)
c.3389A>C (p.Asp1130Ala)
c.2738A>C (p.Asp913Ala)
c.2342A>C (p.Asp781Ala)
c.2084A>C (p.Asp695Ala)
c.3362A>C (p.Asp1121Ala)
10g.75029251A>GCA377296987DUSP29,KAT6Bc.4427A>G (p.Asp1476Gly)
c.3878A>G (p.Asp1293Gly)
c.3551A>G (p.Asp1184Gly)
n.577-2657T>C
c.*3622-2657T>C (n.*3622-2657T>C)
c.4265A>G (p.Asp1422Gly)
c.3389A>G (p.Asp1130Gly)
c.2738A>G (p.Asp913Gly)
c.2342A>G (p.Asp781Gly)
c.2084A>G (p.Asp695Gly)
c.3362A>G (p.Asp1121Gly)
10g.75029251A>TCA377296988DUSP29,KAT6Bc.4427A>T (p.Asp1476Val)
c.3878A>T (p.Asp1293Val)
c.3551A>T (p.Asp1184Val)
n.577-2657T>A
c.*3622-2657T>A (n.*3622-2657T>A)
c.4265A>T (p.Asp1422Val)
c.3389A>T (p.Asp1130Val)
c.2738A>T (p.Asp913Val)
c.2342A>T (p.Asp781Val)
c.2084A>T (p.Asp695Val)
c.3362A>T (p.Asp1121Val)
10g.75029252C>ACA377296989DUSP29,KAT6Bc.4428C>A (p.Asp1476Glu)
c.3879C>A (p.Asp1293Glu)
c.3552C>A (p.Asp1184Glu)
n.577-2658G>T
c.*3622-2658G>T (n.*3622-2658G>T)
c.4266C>A (p.Asp1422Glu)
c.3390C>A (p.Asp1130Glu)
c.2739C>A (p.Asp913Glu)
c.2343C>A (p.Asp781Glu)
c.2085C>A (p.Asp695Glu)
c.3363C>A (p.Asp1121Glu)
10g.75029252C>GCA377296990DUSP29,KAT6Bc.4428C>G (p.Asp1476Glu)
c.3879C>G (p.Asp1293Glu)
c.3552C>G (p.Asp1184Glu)
n.577-2658G>C
c.*3622-2658G>C (n.*3622-2658G>C)
c.4266C>G (p.Asp1422Glu)
c.3390C>G (p.Asp1130Glu)
c.2739C>G (p.Asp913Glu)
c.2343C>G (p.Asp781Glu)
c.2085C>G (p.Asp695Glu)
c.3363C>G (p.Asp1121Glu)
10g.75029252C>TCA470300513DUSP29,KAT6Bc.4428C>T (p.Asp1476=)
c.3879C>T (p.Asp1293=)
c.3552C>T (p.Asp1184=)
n.577-2658G>A
c.*3622-2658G>A (n.*3622-2658G>A)
c.4266C>T (p.Asp1422=)
c.3390C>T (p.Asp1130=)
c.2739C>T (p.Asp913=)
c.2343C>T (p.Asp781=)
c.2085C>T (p.Asp695=)
c.3363C>T (p.Asp1121=)
10g.75029253T>ACA377296997DUSP29,KAT6Bc.4429T>A (p.Cys1477Ser)
c.3880T>A (p.Cys1294Ser)
c.3553T>A (p.Cys1185Ser)
n.577-2659A>T
c.*3622-2659A>T (n.*3622-2659A>T)
c.4267T>A (p.Cys1423Ser)
c.3391T>A (p.Cys1131Ser)
c.2740T>A (p.Cys914Ser)
c.2344T>A (p.Cys782Ser)
c.2086T>A (p.Cys696Ser)
c.3364T>A (p.Cys1122Ser)
10g.75029253T>CCA377296993DUSP29,KAT6Bc.4429T>C (p.Cys1477Arg)
c.3880T>C (p.Cys1294Arg)
c.3553T>C (p.Cys1185Arg)
n.577-2659A>G
c.*3622-2659A>G (n.*3622-2659A>G)
c.4267T>C (p.Cys1423Arg)
c.3391T>C (p.Cys1131Arg)
c.2740T>C (p.Cys914Arg)
c.2344T>C (p.Cys782Arg)
c.2086T>C (p.Cys696Arg)
c.3364T>C (p.Cys1122Arg)
10g.75029253T>GCA377296995DUSP29,KAT6Bc.4429T>G (p.Cys1477Gly)
c.3880T>G (p.Cys1294Gly)
c.3553T>G (p.Cys1185Gly)
n.577-2659A>C
c.*3622-2659A>C (n.*3622-2659A>C)
c.4267T>G (p.Cys1423Gly)
c.3391T>G (p.Cys1131Gly)
c.2740T>G (p.Cys914Gly)
c.2344T>G (p.Cys782Gly)
c.2086T>G (p.Cys696Gly)
c.3364T>G (p.Cys1122Gly)
10g.75029254G>ACA209709875DUSP29,KAT6Bc.4430G>A (p.Cys1477Tyr)
c.3881G>A (p.Cys1294Tyr)
c.3554G>A (p.Cys1185Tyr)
n.577-2660C>T
c.*3622-2660C>T (n.*3622-2660C>T)
c.4268G>A (p.Cys1423Tyr)
c.3392G>A (p.Cys1131Tyr)
c.2741G>A (p.Cys914Tyr)
c.2345G>A (p.Cys782Tyr)
c.2087G>A (p.Cys696Tyr)
c.3365G>A (p.Cys1122Tyr)
 dbSNP gnomAD v4
10g.75029254G>CCA377297000DUSP29,KAT6Bc.4430G>C (p.Cys1477Ser)
c.3881G>C (p.Cys1294Ser)
c.3554G>C (p.Cys1185Ser)
n.577-2660C>G
c.*3622-2660C>G (n.*3622-2660C>G)
c.4268G>C (p.Cys1423Ser)
c.3392G>C (p.Cys1131Ser)
c.2741G>C (p.Cys914Ser)
c.2345G>C (p.Cys782Ser)
c.2087G>C (p.Cys696Ser)
c.3365G>C (p.Cys1122Ser)
10g.75029254G=CA1920306657DUSP29,KAT6Bc.4430G= (p.Cys1477=)
c.3881G= (p.Cys1294=)
c.3554G= (p.Cys1185=)
n.577-2660C=
c.*3622-2660C= (n.*3622-2660C=)
c.4268G= (p.Cys1423=)
c.3392G= (p.Cys1131=)
c.2741G= (p.Cys914=)
c.2345G= (p.Cys782=)
c.2087G= (p.Cys696=)
c.3365G= (p.Cys1122=)
10g.75029254G>TCA377297001DUSP29,KAT6Bc.4430G>T (p.Cys1477Phe)
c.3881G>T (p.Cys1294Phe)
c.3554G>T (p.Cys1185Phe)
n.577-2660C>A
c.*3622-2660C>A (n.*3622-2660C>A)
c.4268G>T (p.Cys1423Phe)
c.3392G>T (p.Cys1131Phe)
c.2741G>T (p.Cys914Phe)
c.2345G>T (p.Cys782Phe)
c.2087G>T (p.Cys696Phe)
c.3365G>T (p.Cys1122Phe)
10g.75029255T>ACA377297003DUSP29,KAT6Bc.4431T>A (p.Cys1477Ter)
c.3882T>A (p.Cys1294Ter)
c.3555T>A (p.Cys1185Ter)
n.577-2661A>T
c.*3622-2661A>T (n.*3622-2661A>T)
c.4269T>A (p.Cys1423Ter)
c.3393T>A (p.Cys1131Ter)
c.2742T>A (p.Cys914Ter)
c.2346T>A (p.Cys782Ter)
c.2088T>A (p.Cys696Ter)
c.3366T>A (p.Cys1122Ter)
10g.75029255T>CCA470300527DUSP29,KAT6Bc.4431T>C (p.Cys1477=)
c.3882T>C (p.Cys1294=)
c.3555T>C (p.Cys1185=)
n.577-2661A>G
c.*3622-2661A>G (n.*3622-2661A>G)
c.4269T>C (p.Cys1423=)
c.3393T>C (p.Cys1131=)
c.2742T>C (p.Cys914=)
c.2346T>C (p.Cys782=)
c.2088T>C (p.Cys696=)
c.3366T>C (p.Cys1122=)
10g.75029255T>GCA377297004DUSP29,KAT6Bc.4431T>G (p.Cys1477Trp)
c.3882T>G (p.Cys1294Trp)
c.3555T>G (p.Cys1185Trp)
n.577-2661A>C
c.*3622-2661A>C (n.*3622-2661A>C)
c.4269T>G (p.Cys1423Trp)
c.3393T>G (p.Cys1131Trp)
c.2742T>G (p.Cys914Trp)
c.2346T>G (p.Cys782Trp)
c.2088T>G (p.Cys696Trp)
c.3366T>G (p.Cys1122Trp)
 gnomAD v4
10g.75029256G>ACA377297006DUSP29,KAT6Bc.4432G>A (p.Gly1478Ser)
c.3883G>A (p.Gly1295Ser)
c.3556G>A (p.Gly1186Ser)
n.577-2662C>T
c.*3622-2662C>T (n.*3622-2662C>T)
c.4270G>A (p.Gly1424Ser)
c.3394G>A (p.Gly1132Ser)
c.2743G>A (p.Gly915Ser)
c.2347G>A (p.Gly783Ser)
c.2089G>A (p.Gly697Ser)
c.3367G>A (p.Gly1123Ser)
10g.75029256G>CCA5565031DUSP29,KAT6Bc.4432G>C (p.Gly1478Arg)
c.3883G>C (p.Gly1295Arg)
c.3556G>C (p.Gly1186Arg)
n.577-2662C>G
c.*3622-2662C>G (n.*3622-2662C>G)
c.4270G>C (p.Gly1424Arg)
c.3394G>C (p.Gly1132Arg)
c.2743G>C (p.Gly915Arg)
c.2347G>C (p.Gly783Arg)
c.2089G>C (p.Gly697Arg)
c.3367G>C (p.Gly1123Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.75029256G=CA1920306658DUSP29,KAT6Bc.4432G= (p.Gly1478=)
c.3883G= (p.Gly1295=)
c.3556G= (p.Gly1186=)
n.577-2662C=
c.*3622-2662C= (n.*3622-2662C=)
c.4270G= (p.Gly1424=)
c.3394G= (p.Gly1132=)
c.2743G= (p.Gly915=)
c.2347G= (p.Gly783=)
c.2089G= (p.Gly697=)
c.3367G= (p.Gly1123=)
10g.75029256G>TCA377297008DUSP29,KAT6Bc.4432G>T (p.Gly1478Cys)
c.3883G>T (p.Gly1295Cys)
c.3556G>T (p.Gly1186Cys)
n.577-2662C>A
c.*3622-2662C>A (n.*3622-2662C>A)
c.4270G>T (p.Gly1424Cys)
c.3394G>T (p.Gly1132Cys)
c.2743G>T (p.Gly915Cys)
c.2347G>T (p.Gly783Cys)
c.2089G>T (p.Gly697Cys)
c.3367G>T (p.Gly1123Cys)
10g.75029257G>ACA377297010DUSP29,KAT6Bc.4433G>A (p.Gly1478Asp)
c.3884G>A (p.Gly1295Asp)
c.3557G>A (p.Gly1186Asp)
n.577-2663C>T
c.*3622-2663C>T (n.*3622-2663C>T)
c.4271G>A (p.Gly1424Asp)
c.3395G>A (p.Gly1132Asp)
c.2744G>A (p.Gly915Asp)
c.2348G>A (p.Gly783Asp)
c.2090G>A (p.Gly697Asp)
c.3368G>A (p.Gly1123Asp)
10g.75029257G>CCA377297011DUSP29,KAT6Bc.4433G>C (p.Gly1478Ala)
c.3884G>C (p.Gly1295Ala)
c.3557G>C (p.Gly1186Ala)
n.577-2663C>G
c.*3622-2663C>G (n.*3622-2663C>G)
c.4271G>C (p.Gly1424Ala)
c.3395G>C (p.Gly1132Ala)
c.2744G>C (p.Gly915Ala)
c.2348G>C (p.Gly783Ala)
c.2090G>C (p.Gly697Ala)
c.3368G>C (p.Gly1123Ala)
10g.75029257G>TCA377297013DUSP29,KAT6Bc.4433G>T (p.Gly1478Val)
c.3884G>T (p.Gly1295Val)
c.3557G>T (p.Gly1186Val)
n.577-2663C>A
c.*3622-2663C>A (n.*3622-2663C>A)
c.4271G>T (p.Gly1424Val)
c.3395G>T (p.Gly1132Val)
c.2744G>T (p.Gly915Val)
c.2348G>T (p.Gly783Val)
c.2090G>T (p.Gly697Val)
c.3368G>T (p.Gly1123Val)
10g.75029258C>ACA470300533DUSP29,KAT6Bc.4434C>A (p.Gly1478=)
c.3885C>A (p.Gly1295=)
c.3558C>A (p.Gly1186=)
n.577-2664G>T
c.*3622-2664G>T (n.*3622-2664G>T)
c.4272C>A (p.Gly1424=)
c.3396C>A (p.Gly1132=)
c.2745C>A (p.Gly915=)
c.2349C>A (p.Gly783=)
c.2091C>A (p.Gly697=)
c.3369C>A (p.Gly1123=)
10g.75029258C=CA1920306659DUSP29,KAT6Bc.4434C= (p.Gly1478=)
c.3885C= (p.Gly1295=)
c.3558C= (p.Gly1186=)
n.577-2664G=
c.*3622-2664G= (n.*3622-2664G=)
c.4272C= (p.Gly1424=)
c.3396C= (p.Gly1132=)
c.2745C= (p.Gly915=)
c.2349C= (p.Gly783=)
c.2091C= (p.Gly697=)
c.3369C= (p.Gly1123=)
10g.75029258C>GCA470300534DUSP29,KAT6Bc.4434C>G (p.Gly1478=)
c.3885C>G (p.Gly1295=)
c.3558C>G (p.Gly1186=)
n.577-2664G>C
c.*3622-2664G>C (n.*3622-2664G>C)
c.4272C>G (p.Gly1424=)
c.3396C>G (p.Gly1132=)
c.2745C>G (p.Gly915=)
c.2349C>G (p.Gly783=)
c.2091C>G (p.Gly697=)
c.3369C>G (p.Gly1123=)
10g.75029258C>TCA5565032DUSP29,KAT6Bc.4434C>T (p.Gly1478=)
c.3885C>T (p.Gly1295=)
c.3558C>T (p.Gly1186=)
n.577-2664G>A
c.*3622-2664G>A (n.*3622-2664G>A)
c.4272C>T (p.Gly1424=)
c.3396C>T (p.Gly1132=)
c.2745C>T (p.Gly915=)
c.2349C>T (p.Gly783=)
c.2091C>T (p.Gly697=)
c.3369C>T (p.Gly1123=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.75029259G>ACA5565033DUSP29,KAT6Bc.4435G>A (p.Val1479Ile)
c.3886G>A (p.Val1296Ile)
c.3559G>A (p.Val1187Ile)
n.577-2665C>T
c.*3622-2665C>T (n.*3622-2665C>T)
c.4273G>A (p.Val1425Ile)
c.3397G>A (p.Val1133Ile)
c.2746G>A (p.Val916Ile)
c.2350G>A (p.Val784Ile)
c.2092G>A (p.Val698Ile)
c.3370G>A (p.Val1124Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
10g.75029259G>CCA377297018DUSP29,KAT6Bc.4435G>C (p.Val1479Leu)
c.3886G>C (p.Val1296Leu)
c.3559G>C (p.Val1187Leu)
n.577-2665C>G
c.*3622-2665C>G (n.*3622-2665C>G)
c.4273G>C (p.Val1425Leu)
c.3397G>C (p.Val1133Leu)
c.2746G>C (p.Val916Leu)
c.2350G>C (p.Val784Leu)
c.2092G>C (p.Val698Leu)
c.3370G>C (p.Val1124Leu)
10g.75029259G=CA1920306660DUSP29,KAT6Bc.4435G= (p.Val1479=)
c.3886G= (p.Val1296=)
c.3559G= (p.Val1187=)
n.577-2665C=
c.*3622-2665C= (n.*3622-2665C=)
c.4273G= (p.Val1425=)
c.3397G= (p.Val1133=)
c.2746G= (p.Val916=)
c.2350G= (p.Val784=)
c.2092G= (p.Val698=)
c.3370G= (p.Val1124=)
10g.75029259G>TCA377297019DUSP29,KAT6Bc.4435G>T (p.Val1479Phe)
c.3886G>T (p.Val1296Phe)
c.3559G>T (p.Val1187Phe)
n.577-2665C>A
c.*3622-2665C>A (n.*3622-2665C>A)
c.4273G>T (p.Val1425Phe)
c.3397G>T (p.Val1133Phe)
c.2746G>T (p.Val916Phe)
c.2350G>T (p.Val784Phe)
c.2092G>T (p.Val698Phe)
c.3370G>T (p.Val1124Phe)
10g.75029260T>ACA377297021DUSP29,KAT6Bc.4436T>A (p.Val1479Asp)
c.3887T>A (p.Val1296Asp)
c.3560T>A (p.Val1187Asp)
n.577-2666A>T
c.*3622-2666A>T (n.*3622-2666A>T)
c.4274T>A (p.Val1425Asp)
c.3398T>A (p.Val1133Asp)
c.2747T>A (p.Val916Asp)
c.2351T>A (p.Val784Asp)
c.2093T>A (p.Val698Asp)
c.3371T>A (p.Val1124Asp)
10g.75029260T>CCA377297023DUSP29,KAT6Bc.4436T>C (p.Val1479Ala)
c.3887T>C (p.Val1296Ala)
c.3560T>C (p.Val1187Ala)
n.577-2666A>G
c.*3622-2666A>G (n.*3622-2666A>G)
c.4274T>C (p.Val1425Ala)
c.3398T>C (p.Val1133Ala)
c.2747T>C (p.Val916Ala)
c.2351T>C (p.Val784Ala)
c.2093T>C (p.Val698Ala)
c.3371T>C (p.Val1124Ala)
 gnomAD v4
10g.75029260T>GCA377297024DUSP29,KAT6Bc.4436T>G (p.Val1479Gly)
c.3887T>G (p.Val1296Gly)
c.3560T>G (p.Val1187Gly)
n.577-2666A>C
c.*3622-2666A>C (n.*3622-2666A>C)
c.4274T>G (p.Val1425Gly)
c.3398T>G (p.Val1133Gly)
c.2747T>G (p.Val916Gly)
c.2351T>G (p.Val784Gly)
c.2093T>G (p.Val698Gly)
c.3371T>G (p.Val1124Gly)
10g.75029261C>ACA470300541DUSP29,KAT6Bc.4437C>A (p.Val1479=)
c.3888C>A (p.Val1296=)
c.3561C>A (p.Val1187=)
n.577-2667G>T
c.*3622-2667G>T (n.*3622-2667G>T)
c.4275C>A (p.Val1425=)
c.3399C>A (p.Val1133=)
c.2748C>A (p.Val916=)
c.2352C>A (p.Val784=)
c.2094C>A (p.Val698=)
c.3372C>A (p.Val1124=)
10g.75029261C=CA1920306661DUSP29,KAT6Bc.4437C= (p.Val1479=)
c.3888C= (p.Val1296=)
c.3561C= (p.Val1187=)
n.577-2667G=
c.*3622-2667G= (n.*3622-2667G=)
c.4275C= (p.Val1425=)
c.3399C= (p.Val1133=)
c.2748C= (p.Val916=)
c.2352C= (p.Val784=)
c.2094C= (p.Val698=)
c.3372C= (p.Val1124=)
10g.75029261C>GCA470300539DUSP29,KAT6Bc.4437C>G (p.Val1479=)
c.3888C>G (p.Val1296=)
c.3561C>G (p.Val1187=)
n.577-2667G>C
c.*3622-2667G>C (n.*3622-2667G>C)
c.4275C>G (p.Val1425=)
c.3399C>G (p.Val1133=)
c.2748C>G (p.Val916=)
c.2352C>G (p.Val784=)
c.2094C>G (p.Val698=)
c.3372C>G (p.Val1124=)
10g.75029261C>TCA5565034DUSP29,KAT6Bc.4437C>T (p.Val1479=)
c.3888C>T (p.Val1296=)
c.3561C>T (p.Val1187=)
n.577-2667G>A
c.*3622-2667G>A (n.*3622-2667G>A)
c.4275C>T (p.Val1425=)
c.3399C>T (p.Val1133=)
c.2748C>T (p.Val916=)
c.2352C>T (p.Val784=)
c.2094C>T (p.Val698=)
c.3372C>T (p.Val1124=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.75029262G>ACA209709886DUSP29,KAT6Bc.4438G>A (p.Asp1480Asn)
c.3889G>A (p.Asp1297Asn)
c.3562G>A (p.Asp1188Asn)
n.577-2668C>T
c.*3622-2668C>T (n.*3622-2668C>T)
c.4276G>A (p.Asp1426Asn)
c.3400G>A (p.Asp1134Asn)
c.2749G>A (p.Asp917Asn)
c.2353G>A (p.Asp785Asn)
c.2095G>A (p.Asp699Asn)
c.3373G>A (p.Asp1125Asn)
 dbSNP gnomAD v3 gnomAD v4
10g.75029262G>CCA377297028DUSP29,KAT6Bc.4438G>C (p.Asp1480His)
c.3889G>C (p.Asp1297His)
c.3562G>C (p.Asp1188His)
n.577-2668C>G
c.*3622-2668C>G (n.*3622-2668C>G)
c.4276G>C (p.Asp1426His)
c.3400G>C (p.Asp1134His)
c.2749G>C (p.Asp917His)
c.2353G>C (p.Asp785His)
c.2095G>C (p.Asp699His)
c.3373G>C (p.Asp1125His)
 ClinVar
10g.75029262G=CA1920306662DUSP29,KAT6Bc.4438G= (p.Asp1480=)
c.3889G= (p.Asp1297=)
c.3562G= (p.Asp1188=)
n.577-2668C=
c.*3622-2668C= (n.*3622-2668C=)
c.4276G= (p.Asp1426=)
c.3400G= (p.Asp1134=)
c.2749G= (p.Asp917=)
c.2353G= (p.Asp785=)
c.2095G= (p.Asp699=)
c.3373G= (p.Asp1125=)
10g.75029262G>TCA377297026DUSP29,KAT6Bc.4438G>T (p.Asp1480Tyr)
c.3889G>T (p.Asp1297Tyr)
c.3562G>T (p.Asp1188Tyr)
n.577-2668C>A
c.*3622-2668C>A (n.*3622-2668C>A)
c.4276G>T (p.Asp1426Tyr)
c.3400G>T (p.Asp1134Tyr)
c.2749G>T (p.Asp917Tyr)
c.2353G>T (p.Asp785Tyr)
c.2095G>T (p.Asp699Tyr)
c.3373G>T (p.Asp1125Tyr)
10g.75029263A>CCA377297030DUSP29,KAT6Bc.4439A>C (p.Asp1480Ala)
c.3890A>C (p.Asp1297Ala)
c.3563A>C (p.Asp1188Ala)
n.577-2669T>G
c.*3622-2669T>G (n.*3622-2669T>G)
c.4277A>C (p.Asp1426Ala)
c.3401A>C (p.Asp1134Ala)
c.2750A>C (p.Asp917Ala)
c.2354A>C (p.Asp785Ala)
c.2096A>C (p.Asp699Ala)
c.3374A>C (p.Asp1125Ala)
10g.75029263A>GCA377297034DUSP29,KAT6Bc.4439A>G (p.Asp1480Gly)
c.3890A>G (p.Asp1297Gly)
c.3563A>G (p.Asp1188Gly)
n.577-2669T>C
c.*3622-2669T>C (n.*3622-2669T>C)
c.4277A>G (p.Asp1426Gly)
c.3401A>G (p.Asp1134Gly)
c.2750A>G (p.Asp917Gly)
c.2354A>G (p.Asp785Gly)
c.2096A>G (p.Asp699Gly)
c.3374A>G (p.Asp1125Gly)
10g.75029263A>TCA377297032DUSP29,KAT6Bc.4439A>T (p.Asp1480Val)
c.3890A>T (p.Asp1297Val)
c.3563A>T (p.Asp1188Val)
n.577-2669T>A
c.*3622-2669T>A (n.*3622-2669T>A)
c.4277A>T (p.Asp1426Val)
c.3401A>T (p.Asp1134Val)
c.2750A>T (p.Asp917Val)
c.2354A>T (p.Asp785Val)
c.2096A>T (p.Asp699Val)
c.3374A>T (p.Asp1125Val)
10g.75029264C>ACA377297036DUSP29,KAT6Bc.4440C>A (p.Asp1480Glu)
c.3891C>A (p.Asp1297Glu)
c.3564C>A (p.Asp1188Glu)
n.577-2670G>T
c.*3622-2670G>T (n.*3622-2670G>T)
c.4278C>A (p.Asp1426Glu)
c.3402C>A (p.Asp1134Glu)
c.2751C>A (p.Asp917Glu)
c.2355C>A (p.Asp785Glu)
c.2097C>A (p.Asp699Glu)
c.3375C>A (p.Asp1125Glu)
10g.75029264C>GCA377297038DUSP29,KAT6Bc.4440C>G (p.Asp1480Glu)
c.3891C>G (p.Asp1297Glu)
c.3564C>G (p.Asp1188Glu)
n.577-2670G>C
c.*3622-2670G>C (n.*3622-2670G>C)
c.4278C>G (p.Asp1426Glu)
c.3402C>G (p.Asp1134Glu)
c.2751C>G (p.Asp917Glu)
c.2355C>G (p.Asp785Glu)
c.2097C>G (p.Asp699Glu)
c.3375C>G (p.Asp1125Glu)
10g.75029264C>TCA470300551DUSP29,KAT6Bc.4440C>T (p.Asp1480=)
c.3891C>T (p.Asp1297=)
c.3564C>T (p.Asp1188=)
n.577-2670G>A
c.*3622-2670G>A (n.*3622-2670G>A)
c.4278C>T (p.Asp1426=)
c.3402C>T (p.Asp1134=)
c.2751C>T (p.Asp917=)
c.2355C>T (p.Asp785=)
c.2097C>T (p.Asp699=)
c.3375C>T (p.Asp1125=)
 gnomAD v4
10g.75029265C>ACA377297041DUSP29,KAT6Bc.4441C>A (p.Leu1481Met)
c.3892C>A (p.Leu1298Met)
c.3565C>A (p.Leu1189Met)
n.577-2671G>T
c.*3622-2671G>T (n.*3622-2671G>T)
c.4279C>A (p.Leu1427Met)
c.3403C>A (p.Leu1135Met)
c.2752C>A (p.Leu918Met)
c.2356C>A (p.Leu786Met)
c.2098C>A (p.Leu700Met)
c.3376C>A (p.Leu1126Met)
10g.75029265C=CA1920306663DUSP29,KAT6Bc.4441C= (p.Leu1481=)
c.3892C= (p.Leu1298=)
c.3565C= (p.Leu1189=)
n.577-2671G=
c.*3622-2671G= (n.*3622-2671G=)
c.4279C= (p.Leu1427=)
c.3403C= (p.Leu1135=)
c.2752C= (p.Leu918=)
c.2356C= (p.Leu786=)
c.2098C= (p.Leu700=)
c.3376C= (p.Leu1126=)
10g.75029265C>GCA5565035DUSP29,KAT6Bc.4441C>G (p.Leu1481Val)
c.3892C>G (p.Leu1298Val)
c.3565C>G (p.Leu1189Val)
n.577-2671G>C
c.*3622-2671G>C (n.*3622-2671G>C)
c.4279C>G (p.Leu1427Val)
c.3403C>G (p.Leu1135Val)
c.2752C>G (p.Leu918Val)
c.2356C>G (p.Leu786Val)
c.2098C>G (p.Leu700Val)
c.3376C>G (p.Leu1126Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.75029265C>TCA470300555DUSP29,KAT6Bc.4441C>T (p.Leu1481=)
c.3892C>T (p.Leu1298=)
c.3565C>T (p.Leu1189=)
n.577-2671G>A
c.*3622-2671G>A (n.*3622-2671G>A)
c.4279C>T (p.Leu1427=)
c.3403C>T (p.Leu1135=)
c.2752C>T (p.Leu918=)
c.2356C>T (p.Leu786=)
c.2098C>T (p.Leu700=)
c.3376C>T (p.Leu1126=)
10g.75029266T>ACA377297045DUSP29,KAT6Bc.4442T>A (p.Leu1481Gln)
c.3893T>A (p.Leu1298Gln)
c.3566T>A (p.Leu1189Gln)
n.577-2672A>T
c.*3622-2672A>T (n.*3622-2672A>T)
c.4280T>A (p.Leu1427Gln)
c.3404T>A (p.Leu1135Gln)
c.2753T>A (p.Leu918Gln)
c.2357T>A (p.Leu786Gln)
c.2099T>A (p.Leu700Gln)
c.3377T>A (p.Leu1126Gln)
10g.75029266T>CCA377297047DUSP29,KAT6Bc.4442T>C (p.Leu1481Pro)
c.3893T>C (p.Leu1298Pro)
c.3566T>C (p.Leu1189Pro)
n.577-2672A>G
c.*3622-2672A>G (n.*3622-2672A>G)
c.4280T>C (p.Leu1427Pro)
c.3404T>C (p.Leu1135Pro)
c.2753T>C (p.Leu918Pro)
c.2357T>C (p.Leu786Pro)
c.2099T>C (p.Leu700Pro)
c.3377T>C (p.Leu1126Pro)
10g.75029266T>GCA377297050DUSP29,KAT6Bc.4442T>G (p.Leu1481Arg)
c.3893T>G (p.Leu1298Arg)
c.3566T>G (p.Leu1189Arg)
n.577-2672A>C
c.*3622-2672A>C (n.*3622-2672A>C)
c.4280T>G (p.Leu1427Arg)
c.3404T>G (p.Leu1135Arg)
c.2753T>G (p.Leu918Arg)
c.2357T>G (p.Leu786Arg)
c.2099T>G (p.Leu700Arg)
c.3377T>G (p.Leu1126Arg)
10g.75029267G>ACA470300566DUSP29,KAT6Bc.4443G>A (p.Leu1481=)
c.3894G>A (p.Leu1298=)
c.3567G>A (p.Leu1189=)
n.577-2673C>T
c.*3622-2673C>T (n.*3622-2673C>T)
c.4281G>A (p.Leu1427=)
c.3405G>A (p.Leu1135=)
c.2754G>A (p.Leu918=)
c.2358G>A (p.Leu786=)
c.2100G>A (p.Leu700=)
c.3378G>A (p.Leu1126=)
 dbSNP gnomAD v3 gnomAD v4
10g.75029267G>CCA470300561DUSP29,KAT6Bc.4443G>C (p.Leu1481=)
c.3894G>C (p.Leu1298=)
c.3567G>C (p.Leu1189=)
n.577-2673C>G
c.*3622-2673C>G (n.*3622-2673C>G)
c.4281G>C (p.Leu1427=)
c.3405G>C (p.Leu1135=)
c.2754G>C (p.Leu918=)
c.2358G>C (p.Leu786=)
c.2100G>C (p.Leu700=)
c.3378G>C (p.Leu1126=)
 gnomAD v4
10g.75029267G=CA1920306664DUSP29,KAT6Bc.4443G= (p.Leu1481=)
c.3894G= (p.Leu1298=)
c.3567G= (p.Leu1189=)
n.577-2673C=
c.*3622-2673C= (n.*3622-2673C=)
c.4281G= (p.Leu1427=)
c.3405G= (p.Leu1135=)
c.2754G= (p.Leu918=)
c.2358G= (p.Leu786=)
c.2100G= (p.Leu700=)
c.3378G= (p.Leu1126=)
10g.75029267G>TCA470300564DUSP29,KAT6Bc.4443G>T (p.Leu1481=)
c.3894G>T (p.Leu1298=)
c.3567G>T (p.Leu1189=)
n.577-2673C>A
c.*3622-2673C>A (n.*3622-2673C>A)
c.4281G>T (p.Leu1427=)
c.3405G>T (p.Leu1135=)
c.2754G>T (p.Leu918=)
c.2358G>T (p.Leu786=)
c.2100G>T (p.Leu700=)
c.3378G>T (p.Leu1126=)
10g.75029268A=CA1920306665DUSP29,KAT6Bc.4444A= (p.Thr1482=)
c.3895A= (p.Thr1299=)
c.3568A= (p.Thr1190=)
n.577-2674T=
c.*3622-2674T= (n.*3622-2674T=)
c.4282A= (p.Thr1428=)
c.3406A= (p.Thr1136=)
c.2755A= (p.Thr919=)
c.2359A= (p.Thr787=)
c.2101A= (p.Thr701=)
c.3379A= (p.Thr1127=)
10g.75029268A>CCA377297052DUSP29,KAT6Bc.4444A>C (p.Thr1482Pro)
c.3895A>C (p.Thr1299Pro)
c.3568A>C (p.Thr1190Pro)
n.577-2674T>G
c.*3622-2674T>G (n.*3622-2674T>G)
c.4282A>C (p.Thr1428Pro)
c.3406A>C (p.Thr1136Pro)
c.2755A>C (p.Thr919Pro)
c.2359A>C (p.Thr787Pro)
c.2101A>C (p.Thr701Pro)
c.3379A>C (p.Thr1127Pro)
10g.75029268A>GCA5565036DUSP29,KAT6Bc.4444A>G (p.Thr1482Ala)
c.3895A>G (p.Thr1299Ala)
c.3568A>G (p.Thr1190Ala)
n.577-2674T>C
c.*3622-2674T>C (n.*3622-2674T>C)
c.4282A>G (p.Thr1428Ala)
c.3406A>G (p.Thr1136Ala)
c.2755A>G (p.Thr919Ala)
c.2359A>G (p.Thr787Ala)
c.2101A>G (p.Thr701Ala)
c.3379A>G (p.Thr1127Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.75029268A>TCA377297055DUSP29,KAT6Bc.4444A>T (p.Thr1482Ser)
c.3895A>T (p.Thr1299Ser)
c.3568A>T (p.Thr1190Ser)
n.577-2674T>A
c.*3622-2674T>A (n.*3622-2674T>A)
c.4282A>T (p.Thr1428Ser)
c.3406A>T (p.Thr1136Ser)
c.2755A>T (p.Thr919Ser)
c.2359A>T (p.Thr787Ser)
c.2101A>T (p.Thr701Ser)
c.3379A>T (p.Thr1127Ser)
10g.75029269C>ACA377297063DUSP29,KAT6Bc.4445C>A (p.Thr1482Lys)
c.3896C>A (p.Thr1299Lys)
c.3569C>A (p.Thr1190Lys)
n.577-2675G>T
c.*3622-2675G>T (n.*3622-2675G>T)
c.4283C>A (p.Thr1428Lys)
c.3407C>A (p.Thr1136Lys)
c.2756C>A (p.Thr919Lys)
c.2360C>A (p.Thr787Lys)
c.2102C>A (p.Thr701Lys)
c.3380C>A (p.Thr1127Lys)
10g.75029269C>GCA377297060DUSP29,KAT6Bc.4445C>G (p.Thr1482Arg)
c.3896C>G (p.Thr1299Arg)
c.3569C>G (p.Thr1190Arg)
n.577-2675G>C
c.*3622-2675G>C (n.*3622-2675G>C)
c.4283C>G (p.Thr1428Arg)
c.3407C>G (p.Thr1136Arg)
c.2756C>G (p.Thr919Arg)
c.2360C>G (p.Thr787Arg)
c.2102C>G (p.Thr701Arg)
c.3380C>G (p.Thr1127Arg)
10g.75029269C>TCA377297058DUSP29,KAT6Bc.4445C>T (p.Thr1482Ile)
c.3896C>T (p.Thr1299Ile)
c.3569C>T (p.Thr1190Ile)
n.577-2675G>A
c.*3622-2675G>A (n.*3622-2675G>A)
c.4283C>T (p.Thr1428Ile)
c.3407C>T (p.Thr1136Ile)
c.2756C>T (p.Thr919Ile)
c.2360C>T (p.Thr787Ile)
c.2102C>T (p.Thr701Ile)
c.3380C>T (p.Thr1127Ile)
 gnomAD v4
10g.75029270A>CCA470300574DUSP29,KAT6Bc.4446A>C (p.Thr1482=)
c.3897A>C (p.Thr1299=)
c.3570A>C (p.Thr1190=)
n.577-2676T>G
c.*3622-2676T>G (n.*3622-2676T>G)
c.4284A>C (p.Thr1428=)
c.3408A>C (p.Thr1136=)
c.2757A>C (p.Thr919=)
c.2361A>C (p.Thr787=)
c.2103A>C (p.Thr701=)
c.3381A>C (p.Thr1127=)
10g.75029270A>GCA470300575DUSP29,KAT6Bc.4446A>G (p.Thr1482=)
c.3897A>G (p.Thr1299=)
c.3570A>G (p.Thr1190=)
n.577-2676T>C
c.*3622-2676T>C (n.*3622-2676T>C)
c.4284A>G (p.Thr1428=)
c.3408A>G (p.Thr1136=)
c.2757A>G (p.Thr919=)
c.2361A>G (p.Thr787=)
c.2103A>G (p.Thr701=)
c.3381A>G (p.Thr1127=)
10g.75029270A>TCA470300576DUSP29,KAT6Bc.4446A>T (p.Thr1482=)
c.3897A>T (p.Thr1299=)
c.3570A>T (p.Thr1190=)
n.577-2676T>A
c.*3622-2676T>A (n.*3622-2676T>A)
c.4284A>T (p.Thr1428=)
c.3408A>T (p.Thr1136=)
c.2757A>T (p.Thr919=)
c.2361A>T (p.Thr787=)
c.2103A>T (p.Thr701=)
c.3381A>T (p.Thr1127=)
10g.75029271G>ACA377297065DUSP29,KAT6Bc.4447G>A (p.Ala1483Thr)
c.3898G>A (p.Ala1300Thr)
c.3571G>A (p.Ala1191Thr)
n.577-2677C>T
c.*3622-2677C>T (n.*3622-2677C>T)
c.4285G>A (p.Ala1429Thr)
c.3409G>A (p.Ala1137Thr)
c.2758G>A (p.Ala920Thr)
c.2362G>A (p.Ala788Thr)
c.2104G>A (p.Ala702Thr)
c.3382G>A (p.Ala1128Thr)
10g.75029271G>CCA377297068DUSP29,KAT6Bc.4447G>C (p.Ala1483Pro)
c.3898G>C (p.Ala1300Pro)
c.3571G>C (p.Ala1191Pro)
n.577-2677C>G
c.*3622-2677C>G (n.*3622-2677C>G)
c.4285G>C (p.Ala1429Pro)
c.3409G>C (p.Ala1137Pro)
c.2758G>C (p.Ala920Pro)
c.2362G>C (p.Ala788Pro)
c.2104G>C (p.Ala702Pro)
c.3382G>C (p.Ala1128Pro)
 ClinVar gnomAD v4
10g.75029271G>TCA377297070DUSP29,KAT6Bc.4447G>T (p.Ala1483Ser)
c.3898G>T (p.Ala1300Ser)
c.3571G>T (p.Ala1191Ser)
n.577-2677C>A
c.*3622-2677C>A (n.*3622-2677C>A)
c.4285G>T (p.Ala1429Ser)
c.3409G>T (p.Ala1137Ser)
c.2758G>T (p.Ala920Ser)
c.2362G>T (p.Ala788Ser)
c.2104G>T (p.Ala702Ser)
c.3382G>T (p.Ala1128Ser)
10g.75029272C>ACA377297073DUSP29,KAT6Bc.4448C>A (p.Ala1483Asp)
c.3899C>A (p.Ala1300Asp)
c.3572C>A (p.Ala1191Asp)
n.577-2678G>T
c.*3622-2678G>T (n.*3622-2678G>T)
c.4286C>A (p.Ala1429Asp)
c.3410C>A (p.Ala1137Asp)
c.2759C>A (p.Ala920Asp)
c.2363C>A (p.Ala788Asp)
c.2105C>A (p.Ala702Asp)
c.3383C>A (p.Ala1128Asp)
10g.75029272C>GCA377297075DUSP29,KAT6Bc.4448C>G (p.Ala1483Gly)
c.3899C>G (p.Ala1300Gly)
c.3572C>G (p.Ala1191Gly)
n.577-2678G>C
c.*3622-2678G>C (n.*3622-2678G>C)
c.4286C>G (p.Ala1429Gly)
c.3410C>G (p.Ala1137Gly)
c.2759C>G (p.Ala920Gly)
c.2363C>G (p.Ala788Gly)
c.2105C>G (p.Ala702Gly)
c.3383C>G (p.Ala1128Gly)
10g.75029272C>TCA377297078DUSP29,KAT6Bc.4448C>T (p.Ala1483Val)
c.3899C>T (p.Ala1300Val)
c.3572C>T (p.Ala1191Val)
n.577-2678G>A
c.*3622-2678G>A (n.*3622-2678G>A)
c.4286C>T (p.Ala1429Val)
c.3410C>T (p.Ala1137Val)
c.2759C>T (p.Ala920Val)
c.2363C>T (p.Ala788Val)
c.2105C>T (p.Ala702Val)
c.3383C>T (p.Ala1128Val)
 gnomAD v4
10g.75029273T>ACA470299786DUSP29,KAT6Bc.4449T>A (p.Ala1483=)
c.3900T>A (p.Ala1300=)
c.3573T>A (p.Ala1191=)
n.577-2679A>T
c.*3622-2679A>T (n.*3622-2679A>T)
c.4287T>A (p.Ala1429=)
c.3411T>A (p.Ala1137=)
c.2760T>A (p.Ala920=)
c.2364T>A (p.Ala788=)
c.2106T>A (p.Ala702=)
c.3384T>A (p.Ala1128=)
10g.75029273T>CCA470299787DUSP29,KAT6Bc.4449T>C (p.Ala1483=)
c.3900T>C (p.Ala1300=)
c.3573T>C (p.Ala1191=)
n.577-2679A>G
c.*3622-2679A>G (n.*3622-2679A>G)
c.4287T>C (p.Ala1429=)
c.3411T>C (p.Ala1137=)
c.2760T>C (p.Ala920=)
c.2364T>C (p.Ala788=)
c.2106T>C (p.Ala702=)
c.3384T>C (p.Ala1128=)
10g.75029273T>GCA470299790DUSP29,KAT6Bc.4449T>G (p.Ala1483=)
c.3900T>G (p.Ala1300=)
c.3573T>G (p.Ala1191=)
n.577-2679A>C
c.*3622-2679A>C (n.*3622-2679A>C)
c.4287T>G (p.Ala1429=)
c.3411T>G (p.Ala1137=)
c.2760T>G (p.Ala920=)
c.2364T>G (p.Ala788=)
c.2106T>G (p.Ala702=)
c.3384T>G (p.Ala1128=)
10g.75029274T>ACA377297081DUSP29,KAT6Bc.4450T>A (p.Ser1484Thr)
c.3901T>A (p.Ser1301Thr)
c.3574T>A (p.Ser1192Thr)
n.577-2680A>T
c.*3622-2680A>T (n.*3622-2680A>T)
c.4288T>A (p.Ser1430Thr)
c.3412T>A (p.Ser1138Thr)
c.2761T>A (p.Ser921Thr)
c.2365T>A (p.Ser789Thr)
c.2107T>A (p.Ser703Thr)
c.3385T>A (p.Ser1129Thr)
10g.75029274T>CCA377297084DUSP29,KAT6Bc.4450T>C (p.Ser1484Pro)
c.3901T>C (p.Ser1301Pro)
c.3574T>C (p.Ser1192Pro)
n.577-2680A>G
c.*3622-2680A>G (n.*3622-2680A>G)
c.4288T>C (p.Ser1430Pro)
c.3412T>C (p.Ser1138Pro)
c.2761T>C (p.Ser921Pro)
c.2365T>C (p.Ser789Pro)
c.2107T>C (p.Ser703Pro)
c.3385T>C (p.Ser1129Pro)
10g.75029274T>GCA377297085DUSP29,KAT6Bc.4450T>G (p.Ser1484Ala)
c.3901T>G (p.Ser1301Ala)
c.3574T>G (p.Ser1192Ala)
n.577-2680A>C
c.*3622-2680A>C (n.*3622-2680A>C)
c.4288T>G (p.Ser1430Ala)
c.3412T>G (p.Ser1138Ala)
c.2761T>G (p.Ser921Ala)
c.2365T>G (p.Ser789Ala)
c.2107T>G (p.Ser703Ala)
c.3385T>G (p.Ser1129Ala)
 dbSNP gnomAD v3 gnomAD v4
10g.75029274T=CA1920306666DUSP29,KAT6Bc.4450T= (p.Ser1484=)
c.3901T= (p.Ser1301=)
c.3574T= (p.Ser1192=)
n.577-2680A=
c.*3622-2680A= (n.*3622-2680A=)
c.4288T= (p.Ser1430=)
c.3412T= (p.Ser1138=)
c.2761T= (p.Ser921=)
c.2365T= (p.Ser789=)
c.2107T= (p.Ser703=)
c.3385T= (p.Ser1129=)
10g.75029275C>ACA377297088DUSP29,KAT6Bc.4451C>A (p.Ser1484Tyr)
c.3902C>A (p.Ser1301Tyr)
c.3575C>A (p.Ser1192Tyr)
n.577-2681G>T
c.*3622-2681G>T (n.*3622-2681G>T)
c.4289C>A (p.Ser1430Tyr)
c.3413C>A (p.Ser1138Tyr)
c.2762C>A (p.Ser921Tyr)
c.2366C>A (p.Ser789Tyr)
c.2108C>A (p.Ser703Tyr)
c.3386C>A (p.Ser1129Tyr)
10g.75029275C>GCA377297090DUSP29,KAT6Bc.4451C>G (p.Ser1484Cys)
c.3902C>G (p.Ser1301Cys)
c.3575C>G (p.Ser1192Cys)
n.577-2681G>C
c.*3622-2681G>C (n.*3622-2681G>C)
c.4289C>G (p.Ser1430Cys)
c.3413C>G (p.Ser1138Cys)
c.2762C>G (p.Ser921Cys)
c.2366C>G (p.Ser789Cys)
c.2108C>G (p.Ser703Cys)
c.3386C>G (p.Ser1129Cys)
 gnomAD v4
10g.75029275C>TCA377297093DUSP29,KAT6Bc.4451C>T (p.Ser1484Phe)
c.3902C>T (p.Ser1301Phe)
c.3575C>T (p.Ser1192Phe)
n.577-2681G>A
c.*3622-2681G>A (n.*3622-2681G>A)
c.4289C>T (p.Ser1430Phe)
c.3413C>T (p.Ser1138Phe)
c.2762C>T (p.Ser921Phe)
c.2366C>T (p.Ser789Phe)
c.2108C>T (p.Ser703Phe)
c.3386C>T (p.Ser1129Phe)
10g.75029276T>ACA470299792DUSP29,KAT6Bc.4452T>A (p.Ser1484=)
c.3903T>A (p.Ser1301=)
c.3576T>A (p.Ser1192=)
n.577-2682A>T
c.*3622-2682A>T (n.*3622-2682A>T)
c.4290T>A (p.Ser1430=)
c.3414T>A (p.Ser1138=)
c.2763T>A (p.Ser921=)
c.2367T>A (p.Ser789=)
c.2109T>A (p.Ser703=)
c.3387T>A (p.Ser1129=)
10g.75029276T>CCA470299793DUSP29,KAT6Bc.4452T>C (p.Ser1484=)
c.3903T>C (p.Ser1301=)
c.3576T>C (p.Ser1192=)
n.577-2682A>G
c.*3622-2682A>G (n.*3622-2682A>G)
c.4290T>C (p.Ser1430=)
c.3414T>C (p.Ser1138=)
c.2763T>C (p.Ser921=)
c.2367T>C (p.Ser789=)
c.2109T>C (p.Ser703=)
c.3387T>C (p.Ser1129=)
10g.75029276T>GCA470299794DUSP29,KAT6Bc.4452T>G (p.Ser1484=)
c.3903T>G (p.Ser1301=)
c.3576T>G (p.Ser1192=)
n.577-2682A>C
c.*3622-2682A>C (n.*3622-2682A>C)
c.4290T>G (p.Ser1430=)
c.3414T>G (p.Ser1138=)
c.2763T>G (p.Ser921=)
c.2367T>G (p.Ser789=)
c.2109T>G (p.Ser703=)
c.3387T>G (p.Ser1129=)
10g.75029277dupCA2582342680DUSP29,KAT6Bc.4453dup (p.Cys1485LeufsTer2)
c.3904dup (p.Cys1302LeufsTer2)
c.3577dup (p.Cys1193LeufsTer2)
n.577-2682dup
c.*3622-2682dup (n.*3622-2682dup)
c.4291dup (p.Cys1431LeufsTer2)
c.3415dup (p.Cys1139LeufsTer2)
c.2764dup (p.Cys922LeufsTer2)
c.2368dup (p.Cys790LeufsTer2)
c.2110dup (p.Cys704LeufsTer2)
c.3388dup (p.Cys1130LeufsTer2)
 ClinVar
10g.75029277T>ACA377297098DUSP29,KAT6Bc.4453T>A (p.Cys1485Ser)
c.3904T>A (p.Cys1302Ser)
c.3577T>A (p.Cys1193Ser)
n.577-2683A>T
c.*3622-2683A>T (n.*3622-2683A>T)
c.4291T>A (p.Cys1431Ser)
c.3415T>A (p.Cys1139Ser)
c.2764T>A (p.Cys922Ser)
c.2368T>A (p.Cys790Ser)
c.2110T>A (p.Cys704Ser)
c.3388T>A (p.Cys1130Ser)
 dbSNP gnomAD v2 gnomAD v4
10g.75029277T>CCA377297099DUSP29,KAT6Bc.4453T>C (p.Cys1485Arg)
c.3904T>C (p.Cys1302Arg)
c.3577T>C (p.Cys1193Arg)
n.577-2683A>G
c.*3622-2683A>G (n.*3622-2683A>G)
c.4291T>C (p.Cys1431Arg)
c.3415T>C (p.Cys1139Arg)
c.2764T>C (p.Cys922Arg)
c.2368T>C (p.Cys790Arg)
c.2110T>C (p.Cys704Arg)
c.3388T>C (p.Cys1130Arg)
10g.75029277T>GCA377297096DUSP29,KAT6Bc.4453T>G (p.Cys1485Gly)
c.3904T>G (p.Cys1302Gly)
c.3577T>G (p.Cys1193Gly)
n.577-2683A>C
c.*3622-2683A>C (n.*3622-2683A>C)
c.4291T>G (p.Cys1431Gly)
c.3415T>G (p.Cys1139Gly)
c.2764T>G (p.Cys922Gly)
c.2368T>G (p.Cys790Gly)
c.2110T>G (p.Cys704Gly)
c.3388T>G (p.Cys1130Gly)
10g.75029277T=CA1920306667DUSP29,KAT6Bc.4453T= (p.Cys1485=)
c.3904T= (p.Cys1302=)
c.3577T= (p.Cys1193=)
n.577-2683A=
c.*3622-2683A= (n.*3622-2683A=)
c.4291T= (p.Cys1431=)
c.3415T= (p.Cys1139=)
c.2764T= (p.Cys922=)
c.2368T= (p.Cys790=)
c.2110T= (p.Cys704=)
c.3388T= (p.Cys1130=)
10g.75029278G>ACA377297100DUSP29,KAT6Bc.4454G>A (p.Cys1485Tyr)
c.3905G>A (p.Cys1302Tyr)
c.3578G>A (p.Cys1193Tyr)
n.577-2684C>T
c.*3622-2684C>T (n.*3622-2684C>T)
c.4292G>A (p.Cys1431Tyr)
c.3416G>A (p.Cys1139Tyr)
c.2765G>A (p.Cys922Tyr)
c.2369G>A (p.Cys790Tyr)
c.2111G>A (p.Cys704Tyr)
c.3389G>A (p.Cys1130Tyr)
 gnomAD v4
10g.75029278G>CCA377297101DUSP29,KAT6Bc.4454G>C (p.Cys1485Ser)
c.3905G>C (p.Cys1302Ser)
c.3578G>C (p.Cys1193Ser)
n.577-2684C>G
c.*3622-2684C>G (n.*3622-2684C>G)
c.4292G>C (p.Cys1431Ser)
c.3416G>C (p.Cys1139Ser)
c.2765G>C (p.Cys922Ser)
c.2369G>C (p.Cys790Ser)
c.2111G>C (p.Cys704Ser)
c.3389G>C (p.Cys1130Ser)
10g.75029278G=CA1920306668DUSP29,KAT6Bc.4454G= (p.Cys1485=)
c.3905G= (p.Cys1302=)
c.3578G= (p.Cys1193=)
n.577-2684C=
c.*3622-2684C= (n.*3622-2684C=)
c.4292G= (p.Cys1431=)
c.3416G= (p.Cys1139=)
c.2765G= (p.Cys922=)
c.2369G= (p.Cys790=)
c.2111G= (p.Cys704=)
c.3389G= (p.Cys1130=)
10g.75029278G>TCA5565037DUSP29,KAT6Bc.4454G>T (p.Cys1485Phe)
c.3905G>T (p.Cys1302Phe)
c.3578G>T (p.Cys1193Phe)
n.577-2684C>A
c.*3622-2684C>A (n.*3622-2684C>A)
c.4292G>T (p.Cys1431Phe)
c.3416G>T (p.Cys1139Phe)
c.2765G>T (p.Cys922Phe)
c.2369G>T (p.Cys790Phe)
c.2111G>T (p.Cys704Phe)
c.3389G>T (p.Cys1130Phe)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.75029279T>ACA377297105DUSP29,KAT6Bc.4455T>A (p.Cys1485Ter)
c.3906T>A (p.Cys1302Ter)
c.3579T>A (p.Cys1193Ter)
n.577-2685A>T
c.*3622-2685A>T (n.*3622-2685A>T)
c.4293T>A (p.Cys1431Ter)
c.3417T>A (p.Cys1139Ter)
c.2766T>A (p.Cys922Ter)
c.2370T>A (p.Cys790Ter)
c.2112T>A (p.Cys704Ter)
c.3390T>A (p.Cys1130Ter)
10g.75029279T>CCA470299796DUSP29,KAT6Bc.4455T>C (p.Cys1485=)
c.3906T>C (p.Cys1302=)
c.3579T>C (p.Cys1193=)
n.577-2685A>G
c.*3622-2685A>G (n.*3622-2685A>G)
c.4293T>C (p.Cys1431=)
c.3417T>C (p.Cys1139=)
c.2766T>C (p.Cys922=)
c.2370T>C (p.Cys790=)
c.2112T>C (p.Cys704=)
c.3390T>C (p.Cys1130=)
10g.75029279T>GCA377297108DUSP29,KAT6Bc.4455T>G (p.Cys1485Trp)
c.3906T>G (p.Cys1302Trp)
c.3579T>G (p.Cys1193Trp)
n.577-2685A>C
c.*3622-2685A>C (n.*3622-2685A>C)
c.4293T>G (p.Cys1431Trp)
c.3417T>G (p.Cys1139Trp)
c.2766T>G (p.Cys922Trp)
c.2370T>G (p.Cys790Trp)
c.2112T>G (p.Cys704Trp)
c.3390T>G (p.Cys1130Trp)
10g.75029280A=CA1920306669DUSP29,KAT6Bc.4456A= (p.Asn1486=)
c.3907A= (p.Asn1303=)
c.3580A= (p.Asn1194=)
n.577-2686T=
c.*3622-2686T= (n.*3622-2686T=)
c.4294A= (p.Asn1432=)
c.3418A= (p.Asn1140=)
c.2767A= (p.Asn923=)
c.2371A= (p.Asn791=)
c.2113A= (p.Asn705=)
c.3391A= (p.Asn1131=)
10g.75029280A>CCA377297110DUSP29,KAT6Bc.4456A>C (p.Asn1486His)
c.3907A>C (p.Asn1303His)
c.3580A>C (p.Asn1194His)
n.577-2686T>G
c.*3622-2686T>G (n.*3622-2686T>G)
c.4294A>C (p.Asn1432His)
c.3418A>C (p.Asn1140His)
c.2767A>C (p.Asn923His)
c.2371A>C (p.Asn791His)
c.2113A>C (p.Asn705His)
c.3391A>C (p.Asn1131His)
10g.75029280A>GCA377297113DUSP29,KAT6Bc.4456A>G (p.Asn1486Asp)
c.3907A>G (p.Asn1303Asp)
c.3580A>G (p.Asn1194Asp)
n.577-2686T>C
c.*3622-2686T>C (n.*3622-2686T>C)
c.4294A>G (p.Asn1432Asp)
c.3418A>G (p.Asn1140Asp)
c.2767A>G (p.Asn923Asp)
c.2371A>G (p.Asn791Asp)
c.2113A>G (p.Asn705Asp)
c.3391A>G (p.Asn1131Asp)
 dbSNP gnomAD v3 gnomAD v4
10g.75029280A>TCA377297116DUSP29,KAT6Bc.4456A>T (p.Asn1486Tyr)
c.3907A>T (p.Asn1303Tyr)
c.3580A>T (p.Asn1194Tyr)
n.577-2686T>A
c.*3622-2686T>A (n.*3622-2686T>A)
c.4294A>T (p.Asn1432Tyr)
c.3418A>T (p.Asn1140Tyr)
c.2767A>T (p.Asn923Tyr)
c.2371A>T (p.Asn791Tyr)
c.2113A>T (p.Asn705Tyr)
c.3391A>T (p.Asn1131Tyr)
10g.75029281A>CCA377297120DUSP29,KAT6Bc.4457A>C (p.Asn1486Thr)
c.3908A>C (p.Asn1303Thr)
c.3581A>C (p.Asn1194Thr)
n.577-2687T>G
c.*3622-2687T>G (n.*3622-2687T>G)
c.4295A>C (p.Asn1432Thr)
c.3419A>C (p.Asn1140Thr)
c.2768A>C (p.Asn923Thr)
c.2372A>C (p.Asn791Thr)
c.2114A>C (p.Asn705Thr)
c.3392A>C (p.Asn1131Thr)
10g.75029281A>GCA377297121DUSP29,KAT6Bc.4457A>G (p.Asn1486Ser)
c.3908A>G (p.Asn1303Ser)
c.3581A>G (p.Asn1194Ser)
n.577-2687T>C
c.*3622-2687T>C (n.*3622-2687T>C)
c.4295A>G (p.Asn1432Ser)
c.3419A>G (p.Asn1140Ser)
c.2768A>G (p.Asn923Ser)
c.2372A>G (p.Asn791Ser)
c.2114A>G (p.Asn705Ser)
c.3392A>G (p.Asn1131Ser)
10g.75029281A>TCA377297122DUSP29,KAT6Bc.4457A>T (p.Asn1486Ile)
c.3908A>T (p.Asn1303Ile)
c.3581A>T (p.Asn1194Ile)
n.577-2687T>A
c.*3622-2687T>A (n.*3622-2687T>A)
c.4295A>T (p.Asn1432Ile)
c.3419A>T (p.Asn1140Ile)
c.2768A>T (p.Asn923Ile)
c.2372A>T (p.Asn791Ile)
c.2114A>T (p.Asn705Ile)
c.3392A>T (p.Asn1131Ile)
10g.75029282C>ACA377297123DUSP29,KAT6Bc.4458C>A (p.Asn1486Lys)
c.3909C>A (p.Asn1303Lys)
c.3582C>A (p.Asn1194Lys)
n.577-2688G>T
c.*3622-2688G>T (n.*3622-2688G>T)
c.4296C>A (p.Asn1432Lys)
c.3420C>A (p.Asn1140Lys)
c.2769C>A (p.Asn923Lys)
c.2373C>A (p.Asn791Lys)
c.2115C>A (p.Asn705Lys)
c.3393C>A (p.Asn1131Lys)
10g.75029282C=CA1920306671DUSP29,KAT6Bc.4458C= (p.Asn1486=)
c.3909C= (p.Asn1303=)
c.3582C= (p.Asn1194=)
n.577-2688G=
c.*3622-2688G= (n.*3622-2688G=)
c.4296C= (p.Asn1432=)
c.3420C= (p.Asn1140=)
c.2769C= (p.Asn923=)
c.2373C= (p.Asn791=)
c.2115C= (p.Asn705=)
c.3393C= (p.Asn1131=)
10g.75029282C>GCA377297124DUSP29,KAT6Bc.4458C>G (p.Asn1486Lys)
c.3909C>G (p.Asn1303Lys)
c.3582C>G (p.Asn1194Lys)
n.577-2688G>C
c.*3622-2688G>C (n.*3622-2688G>C)
c.4296C>G (p.Asn1432Lys)
c.3420C>G (p.Asn1140Lys)
c.2769C>G (p.Asn923Lys)
c.2373C>G (p.Asn791Lys)
c.2115C>G (p.Asn705Lys)
c.3393C>G (p.Asn1131Lys)
10g.75029282C>TCA470299797DUSP29,KAT6Bc.4458C>T (p.Asn1486=)
c.3909C>T (p.Asn1303=)
c.3582C>T (p.Asn1194=)
n.577-2688G>A
c.*3622-2688G>A (n.*3622-2688G>A)
c.4296C>T (p.Asn1432=)
c.3420C>T (p.Asn1140=)
c.2769C>T (p.Asn923=)
c.2373C>T (p.Asn791=)
c.2115C>T (p.Asn705=)
c.3393C>T (p.Asn1131=)
 dbSNP gnomAD v4
10g.75029282_75029286delinsCAGTGCA1920306670DUSP29,KAT6Bc.4458_4462delinsCAGTG (p.Asn1486=)
c.3909_3913delinsCAGTG (p.Asn1303=)
c.3582_3586delinsCAGTG (p.Asn1194=)
n.577-2692_577-2688delinsCACTG
c.*3622-2692_*3622-2688delinsCACTG (n.*3622-2692_*3622-2688delinsCACTG)
c.4296_4300delinsCAGTG (p.Asn1432=)
c.3420_3424delinsCAGTG (p.Asn1140=)
c.2769_2773delinsCAGTG (p.Asn923=)
c.2373_2377delinsCAGTG (p.Asn791=)
c.2115_2119delinsCAGTG (p.Asn705=)
c.3393_3397delinsCAGTG (p.Asn1131=)
10g.75029283A>CCA377297129DUSP29,KAT6Bc.4459A>C (p.Ser1487Arg)
c.3910A>C (p.Ser1304Arg)
c.3583A>C (p.Ser1195Arg)
n.577-2689T>G
c.*3622-2689T>G (n.*3622-2689T>G)
c.4297A>C (p.Ser1433Arg)
c.3421A>C (p.Ser1141Arg)
c.2770A>C (p.Ser924Arg)
c.2374A>C (p.Ser792Arg)
c.2116A>C (p.Ser706Arg)
c.3394A>C (p.Ser1132Arg)
 gnomAD v4
10g.75029283A>GCA377297128DUSP29,KAT6Bc.4459A>G (p.Ser1487Gly)
c.3910A>G (p.Ser1304Gly)
c.3583A>G (p.Ser1195Gly)
n.577-2689T>C
c.*3622-2689T>C (n.*3622-2689T>C)
c.4297A>G (p.Ser1433Gly)
c.3421A>G (p.Ser1141Gly)
c.2770A>G (p.Ser924Gly)
c.2374A>G (p.Ser792Gly)
c.2116A>G (p.Ser706Gly)
c.3394A>G (p.Ser1132Gly)
 gnomAD v4
10g.75029283A>TCA377297126DUSP29,KAT6Bc.4459A>T (p.Ser1487Cys)
c.3910A>T (p.Ser1304Cys)
c.3583A>T (p.Ser1195Cys)
n.577-2689T>A
c.*3622-2689T>A (n.*3622-2689T>A)
c.4297A>T (p.Ser1433Cys)
c.3421A>T (p.Ser1141Cys)
c.2770A>T (p.Ser924Cys)
c.2374A>T (p.Ser792Cys)
c.2116A>T (p.Ser706Cys)
c.3394A>T (p.Ser1132Cys)
10g.75029283_75029284delCA2695212210DUSP29,KAT6Bc.4459_4460del (p.Ser1487Ter)
c.3910_3911del (p.Ser1304Ter)
c.3583_3584del (p.Ser1195Ter)
n.577-2690_577-2689del
c.*3622-2690_*3622-2689del (n.*3622-2690_*3622-2689del)
c.4297_4298del (p.Ser1433Ter)
c.3421_3422del (p.Ser1141Ter)
c.2770_2771del (p.Ser924Ter)
c.2374_2375del (p.Ser792Ter)
c.2116_2117del (p.Ser706Ter)
c.3394_3395del (p.Ser1132Ter)
10g.75029285_75029288delCA658683564DUSP29,KAT6Bc.4461_4464del (p.Glu1488ProfsTer?)
c.3912_3915del (p.Glu1305ProfsTer?)
c.3585_3588del (p.Glu1196ProfsTer?)
n.577-2692_577-2689del
c.*3622-2692_*3622-2689del (n.*3622-2692_*3622-2689del)
c.4299_4302del (p.Glu1434ProfsTer?)
c.3423_3426del (p.Glu1142ProfsTer?)
c.2772_2775del (p.Glu925ProfsTer?)
c.2376_2379del (p.Glu793ProfsTer?)
c.2118_2121del (p.Glu707ProfsTer?)
c.3396_3399del (p.Glu1133ProfsTer?)
 ClinVar dbSNP
10g.75029285_75029294delCA2573053307DUSP29,KAT6Bc.4461_4470del (p.Ser1487ArgfsTer?)
c.3912_3921del (p.Ser1304ArgfsTer?)
c.3585_3594del (p.Ser1195ArgfsTer?)
n.577-2698_577-2689del
c.*3622-2698_*3622-2689del (n.*3622-2698_*3622-2689del)
c.4299_4308del (p.Ser1433ArgfsTer?)
c.3423_3432del (p.Ser1141ArgfsTer?)
c.2772_2781del (p.Ser924ArgfsTer?)
c.2376_2385del (p.Ser792ArgfsTer?)
c.2118_2127del (p.Ser706ArgfsTer?)
c.3396_3405del (p.Ser1132ArgfsTer?)
 ClinVar dbSNP
10g.75029284G>ACA377297133DUSP29,KAT6Bc.4460G>A (p.Ser1487Asn)
c.3911G>A (p.Ser1304Asn)
c.3584G>A (p.Ser1195Asn)
n.577-2690C>T
c.*3622-2690C>T (n.*3622-2690C>T)
c.4298G>A (p.Ser1433Asn)
c.3422G>A (p.Ser1141Asn)
c.2771G>A (p.Ser924Asn)
c.2375G>A (p.Ser792Asn)
c.2117G>A (p.Ser706Asn)
c.3395G>A (p.Ser1132Asn)
10g.75029284G>CCA377297135DUSP29,KAT6Bc.4460G>C (p.Ser1487Thr)
c.3911G>C (p.Ser1304Thr)
c.3584G>C (p.Ser1195Thr)
n.577-2690C>G
c.*3622-2690C>G (n.*3622-2690C>G)
c.4298G>C (p.Ser1433Thr)
c.3422G>C (p.Ser1141Thr)
c.2771G>C (p.Ser924Thr)
c.2375G>C (p.Ser792Thr)
c.2117G>C (p.Ser706Thr)
c.3395G>C (p.Ser1132Thr)
 dbSNP gnomAD v3 gnomAD v4
10g.75029284G=CA1920306672DUSP29,KAT6Bc.4460G= (p.Ser1487=)
c.3911G= (p.Ser1304=)
c.3584G= (p.Ser1195=)
n.577-2690C=
c.*3622-2690C= (n.*3622-2690C=)
c.4298G= (p.Ser1433=)
c.3422G= (p.Ser1141=)
c.2771G= (p.Ser924=)
c.2375G= (p.Ser792=)
c.2117G= (p.Ser706=)
c.3395G= (p.Ser1132=)
10g.75029284G>TCA377297137DUSP29,KAT6Bc.4460G>T (p.Ser1487Ile)
c.3911G>T (p.Ser1304Ile)
c.3584G>T (p.Ser1195Ile)
n.577-2690C>A
c.*3622-2690C>A (n.*3622-2690C>A)
c.4298G>T (p.Ser1433Ile)
c.3422G>T (p.Ser1141Ile)
c.2771G>T (p.Ser924Ile)
c.2375G>T (p.Ser792Ile)
c.2117G>T (p.Ser706Ile)
c.3395G>T (p.Ser1132Ile)
10g.75029285T>ACA377297141DUSP29,KAT6Bc.4461T>A (p.Ser1487Arg)
c.3912T>A (p.Ser1304Arg)
c.3585T>A (p.Ser1195Arg)
n.577-2691A>T
c.*3622-2691A>T (n.*3622-2691A>T)
c.4299T>A (p.Ser1433Arg)
c.3423T>A (p.Ser1141Arg)
c.2772T>A (p.Ser924Arg)
c.2376T>A (p.Ser792Arg)
c.2118T>A (p.Ser706Arg)
c.3396T>A (p.Ser1132Arg)
10g.75029285T>CCA470299799DUSP29,KAT6Bc.4461T>C (p.Ser1487=)
c.3912T>C (p.Ser1304=)
c.3585T>C (p.Ser1195=)
n.577-2691A>G
c.*3622-2691A>G (n.*3622-2691A>G)
c.4299T>C (p.Ser1433=)
c.3423T>C (p.Ser1141=)
c.2772T>C (p.Ser924=)
c.2376T>C (p.Ser792=)
c.2118T>C (p.Ser706=)
c.3396T>C (p.Ser1132=)
10g.75029285T>GCA377297144DUSP29,KAT6Bc.4461T>G (p.Ser1487Arg)
c.3912T>G (p.Ser1304Arg)
c.3585T>G (p.Ser1195Arg)
n.577-2691A>C
c.*3622-2691A>C (n.*3622-2691A>C)
c.4299T>G (p.Ser1433Arg)
c.3423T>G (p.Ser1141Arg)
c.2772T>G (p.Ser924Arg)
c.2376T>G (p.Ser792Arg)
c.2118T>G (p.Ser706Arg)
c.3396T>G (p.Ser1132Arg)
 gnomAD v4
10g.75029286G>ACA377297147DUSP29,KAT6Bc.4462G>A (p.Glu1488Lys)
c.3913G>A (p.Glu1305Lys)
c.3586G>A (p.Glu1196Lys)
n.577-2692C>T
c.*3622-2692C>T (n.*3622-2692C>T)
c.4300G>A (p.Glu1434Lys)
c.3424G>A (p.Glu1142Lys)
c.2773G>A (p.Glu925Lys)
c.2377G>A (p.Glu793Lys)
c.2119G>A (p.Glu707Lys)
c.3397G>A (p.Glu1133Lys)
10g.75029286G>CCA377297149DUSP29,KAT6Bc.4462G>C (p.Glu1488Gln)
c.3913G>C (p.Glu1305Gln)
c.3586G>C (p.Glu1196Gln)
n.577-2692C>G
c.*3622-2692C>G (n.*3622-2692C>G)
c.4300G>C (p.Glu1434Gln)
c.3424G>C (p.Glu1142Gln)
c.2773G>C (p.Glu925Gln)
c.2377G>C (p.Glu793Gln)
c.2119G>C (p.Glu707Gln)
c.3397G>C (p.Glu1133Gln)
 COSMIC
10g.75029286G>TCA377297152DUSP29,KAT6Bc.4462G>T (p.Glu1488Ter)
c.3913G>T (p.Glu1305Ter)
c.3586G>T (p.Glu1196Ter)
n.577-2692C>A
c.*3622-2692C>A (n.*3622-2692C>A)
c.4300G>T (p.Glu1434Ter)
c.3424G>T (p.Glu1142Ter)
c.2773G>T (p.Glu925Ter)
c.2377G>T (p.Glu793Ter)
c.2119G>T (p.Glu707Ter)
c.3397G>T (p.Glu1133Ter)
10g.75029287A>CCA377297155DUSP29,KAT6Bc.4463A>C (p.Glu1488Ala)
c.3914A>C (p.Glu1305Ala)
c.3587A>C (p.Glu1196Ala)
n.577-2693T>G
c.*3622-2693T>G (n.*3622-2693T>G)
c.4301A>C (p.Glu1434Ala)
c.3425A>C (p.Glu1142Ala)
c.2774A>C (p.Glu925Ala)
c.2378A>C (p.Glu793Ala)
c.2120A>C (p.Glu707Ala)
c.3398A>C (p.Glu1133Ala)
10g.75029287A>GCA377297158DUSP29,KAT6Bc.4463A>G (p.Glu1488Gly)
c.3914A>G (p.Glu1305Gly)
c.3587A>G (p.Glu1196Gly)
n.577-2693T>C
c.*3622-2693T>C (n.*3622-2693T>C)
c.4301A>G (p.Glu1434Gly)
c.3425A>G (p.Glu1142Gly)
c.2774A>G (p.Glu925Gly)
c.2378A>G (p.Glu793Gly)
c.2120A>G (p.Glu707Gly)
c.3398A>G (p.Glu1133Gly)
10g.75029287A>TCA377297160DUSP29,KAT6Bc.4463A>T (p.Glu1488Val)
c.3914A>T (p.Glu1305Val)
c.3587A>T (p.Glu1196Val)
n.577-2693T>A
c.*3622-2693T>A (n.*3622-2693T>A)
c.4301A>T (p.Glu1434Val)
c.3425A>T (p.Glu1142Val)
c.2774A>T (p.Glu925Val)
c.2378A>T (p.Glu793Val)
c.2120A>T (p.Glu707Val)
c.3398A>T (p.Glu1133Val)
10g.75029288G>ACA470299801DUSP29,KAT6Bc.4464G>A (p.Glu1488=)
c.3915G>A (p.Glu1305=)
c.3588G>A (p.Glu1196=)
n.577-2694C>T
c.*3622-2694C>T (n.*3622-2694C>T)
c.4302G>A (p.Glu1434=)
c.3426G>A (p.Glu1142=)
c.2775G>A (p.Glu925=)
c.2379G>A (p.Glu793=)
c.2121G>A (p.Glu707=)
c.3399G>A (p.Glu1133=)
 gnomAD v4
10g.75029288G>CCA377297162DUSP29,KAT6Bc.4464G>C (p.Glu1488Asp)
c.3915G>C (p.Glu1305Asp)
c.3588G>C (p.Glu1196Asp)
n.577-2694C>G
c.*3622-2694C>G (n.*3622-2694C>G)
c.4302G>C (p.Glu1434Asp)
c.3426G>C (p.Glu1142Asp)
c.2775G>C (p.Glu925Asp)
c.2379G>C (p.Glu793Asp)
c.2121G>C (p.Glu707Asp)
c.3399G>C (p.Glu1133Asp)
 gnomAD v4
10g.75029288G>TCA377297165DUSP29,KAT6Bc.4464G>T (p.Glu1488Asp)
c.3915G>T (p.Glu1305Asp)
c.3588G>T (p.Glu1196Asp)
n.577-2694C>A
c.*3622-2694C>A (n.*3622-2694C>A)
c.4302G>T (p.Glu1434Asp)
c.3426G>T (p.Glu1142Asp)
c.2775G>T (p.Glu925Asp)
c.2379G>T (p.Glu793Asp)
c.2121G>T (p.Glu707Asp)
c.3399G>T (p.Glu1133Asp)
10g.75029289C>ACA377297170DUSP29,KAT6Bc.4465C>A (p.Pro1489Thr)
c.3916C>A (p.Pro1306Thr)
c.3589C>A (p.Pro1197Thr)
n.577-2695G>T
c.*3622-2695G>T (n.*3622-2695G>T)
c.4303C>A (p.Pro1435Thr)
c.3427C>A (p.Pro1143Thr)
c.2776C>A (p.Pro926Thr)
c.2380C>A (p.Pro794Thr)
c.2122C>A (p.Pro708Thr)
c.3400C>A (p.Pro1134Thr)
 dbSNP
10g.75029289C=CA1920306673DUSP29,KAT6Bc.4465C= (p.Pro1489=)
c.3916C= (p.Pro1306=)
c.3589C= (p.Pro1197=)
n.577-2695G=
c.*3622-2695G= (n.*3622-2695G=)
c.4303C= (p.Pro1435=)
c.3427C= (p.Pro1143=)
c.2776C= (p.Pro926=)
c.2380C= (p.Pro794=)
c.2122C= (p.Pro708=)
c.3400C= (p.Pro1134=)
10g.75029289C>GCA377297169DUSP29,KAT6Bc.4465C>G (p.Pro1489Ala)
c.3916C>G (p.Pro1306Ala)
c.3589C>G (p.Pro1197Ala)
n.577-2695G>C
c.*3622-2695G>C (n.*3622-2695G>C)
c.4303C>G (p.Pro1435Ala)
c.3427C>G (p.Pro1143Ala)
c.2776C>G (p.Pro926Ala)
c.2380C>G (p.Pro794Ala)
c.2122C>G (p.Pro708Ala)
c.3400C>G (p.Pro1134Ala)
10g.75029289C>TCA377297168DUSP29,KAT6Bc.4465C>T (p.Pro1489Ser)
c.3916C>T (p.Pro1306Ser)
c.3589C>T (p.Pro1197Ser)
n.577-2695G>A
c.*3622-2695G>A (n.*3622-2695G>A)
c.4303C>T (p.Pro1435Ser)
c.3427C>T (p.Pro1143Ser)
c.2776C>T (p.Pro926Ser)
c.2380C>T (p.Pro794Ser)
c.2122C>T (p.Pro708Ser)
c.3400C>T (p.Pro1134Ser)
 dbSNP gnomAD v2
10g.75029290C>ACA209709896DUSP29,KAT6Bc.4466C>A (p.Pro1489His)
c.3917C>A (p.Pro1306His)
c.3590C>A (p.Pro1197His)
n.577-2696G>T
c.*3622-2696G>T (n.*3622-2696G>T)
c.4304C>A (p.Pro1435His)
c.3428C>A (p.Pro1143His)
c.2777C>A (p.Pro926His)
c.2381C>A (p.Pro794His)
c.2123C>A (p.Pro708His)
c.3401C>A (p.Pro1134His)
 dbSNP gnomAD v3 gnomAD v4
10g.75029290C=CA1920306674DUSP29,KAT6Bc.4466C= (p.Pro1489=)
c.3917C= (p.Pro1306=)
c.3590C= (p.Pro1197=)
n.577-2696G=
c.*3622-2696G= (n.*3622-2696G=)
c.4304C= (p.Pro1435=)
c.3428C= (p.Pro1143=)
c.2777C= (p.Pro926=)
c.2381C= (p.Pro794=)
c.2123C= (p.Pro708=)
c.3401C= (p.Pro1134=)
10g.75029290C>GCA377297171DUSP29,KAT6Bc.4466C>G (p.Pro1489Arg)
c.3917C>G (p.Pro1306Arg)
c.3590C>G (p.Pro1197Arg)
n.577-2696G>C
c.*3622-2696G>C (n.*3622-2696G>C)
c.4304C>G (p.Pro1435Arg)
c.3428C>G (p.Pro1143Arg)
c.2777C>G (p.Pro926Arg)
c.2381C>G (p.Pro794Arg)
c.2123C>G (p.Pro708Arg)
c.3401C>G (p.Pro1134Arg)
10g.75029290C>TCA377297175DUSP29,KAT6Bc.4466C>T (p.Pro1489Leu)
c.3917C>T (p.Pro1306Leu)
c.3590C>T (p.Pro1197Leu)
n.577-2696G>A
c.*3622-2696G>A (n.*3622-2696G>A)
c.4304C>T (p.Pro1435Leu)
c.3428C>T (p.Pro1143Leu)
c.2777C>T (p.Pro926Leu)
c.2381C>T (p.Pro794Leu)
c.2123C>T (p.Pro708Leu)
c.3401C>T (p.Pro1134Leu)
 gnomAD v4 COSMIC
10g.75029291C>ACA470299802DUSP29,KAT6Bc.4467C>A (p.Pro1489=)
c.3918C>A (p.Pro1306=)
c.3591C>A (p.Pro1197=)
n.577-2697G>T
c.*3622-2697G>T (n.*3622-2697G>T)
c.4305C>A (p.Pro1435=)
c.3429C>A (p.Pro1143=)
c.2778C>A (p.Pro926=)
c.2382C>A (p.Pro794=)
c.2124C>A (p.Pro708=)
c.3402C>A (p.Pro1134=)
10g.75029291C>GCA470299804DUSP29,KAT6Bc.4467C>G (p.Pro1489=)
c.3918C>G (p.Pro1306=)
c.3591C>G (p.Pro1197=)
n.577-2697G>C
c.*3622-2697G>C (n.*3622-2697G>C)
c.4305C>G (p.Pro1435=)
c.3429C>G (p.Pro1143=)
c.2778C>G (p.Pro926=)
c.2382C>G (p.Pro794=)
c.2124C>G (p.Pro708=)
c.3402C>G (p.Pro1134=)
 gnomAD v4
10g.75029291C>TCA470299805DUSP29,KAT6Bc.4467C>T (p.Pro1489=)
c.3918C>T (p.Pro1306=)
c.3591C>T (p.Pro1197=)
n.577-2697G>A
c.*3622-2697G>A (n.*3622-2697G>A)
c.4305C>T (p.Pro1435=)
c.3429C>T (p.Pro1143=)
c.2778C>T (p.Pro926=)
c.2382C>T (p.Pro794=)
c.2124C>T (p.Pro708=)
c.3402C>T (p.Pro1134=)
10g.75029292A>CCA377297178DUSP29,KAT6Bc.4468A>C (p.Lys1490Gln)
c.3919A>C (p.Lys1307Gln)
c.3592A>C (p.Lys1198Gln)
n.577-2698T>G
c.*3622-2698T>G (n.*3622-2698T>G)
c.4306A>C (p.Lys1436Gln)
c.3430A>C (p.Lys1144Gln)
c.2779A>C (p.Lys927Gln)
c.2383A>C (p.Lys795Gln)
c.2125A>C (p.Lys709Gln)
c.3403A>C (p.Lys1135Gln)
10g.75029292A>GCA377297180DUSP29,KAT6Bc.4468A>G (p.Lys1490Glu)
c.3919A>G (p.Lys1307Glu)
c.3592A>G (p.Lys1198Glu)
n.577-2698T>C
c.*3622-2698T>C (n.*3622-2698T>C)
c.4306A>G (p.Lys1436Glu)
c.3430A>G (p.Lys1144Glu)
c.2779A>G (p.Lys927Glu)
c.2383A>G (p.Lys795Glu)
c.2125A>G (p.Lys709Glu)
c.3403A>G (p.Lys1135Glu)
 gnomAD v4
10g.75029292A>TCA377297183DUSP29,KAT6Bc.4468A>T (p.Lys1490Ter)
c.3919A>T (p.Lys1307Ter)
c.3592A>T (p.Lys1198Ter)
n.577-2698T>A
c.*3622-2698T>A (n.*3622-2698T>A)
c.4306A>T (p.Lys1436Ter)
c.3430A>T (p.Lys1144Ter)
c.2779A>T (p.Lys927Ter)
c.2383A>T (p.Lys795Ter)
c.2125A>T (p.Lys709Ter)
c.3403A>T (p.Lys1135Ter)
10g.75029293A>CCA377297184DUSP29,KAT6Bc.4469A>C (p.Lys1490Thr)
c.3920A>C (p.Lys1307Thr)
c.3593A>C (p.Lys1198Thr)
n.577-2699T>G
c.*3622-2699T>G (n.*3622-2699T>G)
c.4307A>C (p.Lys1436Thr)
c.3431A>C (p.Lys1144Thr)
c.2780A>C (p.Lys927Thr)
c.2384A>C (p.Lys795Thr)
c.2126A>C (p.Lys709Thr)
c.3404A>C (p.Lys1135Thr)
 gnomAD v4
10g.75029293A>GCA377297188DUSP29,KAT6Bc.4469A>G (p.Lys1490Arg)
c.3920A>G (p.Lys1307Arg)
c.3593A>G (p.Lys1198Arg)
n.577-2699T>C
c.*3622-2699T>C (n.*3622-2699T>C)
c.4307A>G (p.Lys1436Arg)
c.3431A>G (p.Lys1144Arg)
c.2780A>G (p.Lys927Arg)
c.2384A>G (p.Lys795Arg)
c.2126A>G (p.Lys709Arg)
c.3404A>G (p.Lys1135Arg)
10g.75029293A>TCA377297190DUSP29,KAT6Bc.4469A>T (p.Lys1490Met)
c.3920A>T (p.Lys1307Met)
c.3593A>T (p.Lys1198Met)
n.577-2699T>A
c.*3622-2699T>A (n.*3622-2699T>A)
c.4307A>T (p.Lys1436Met)
c.3431A>T (p.Lys1144Met)
c.2780A>T (p.Lys927Met)
c.2384A>T (p.Lys795Met)
c.2126A>T (p.Lys709Met)
c.3404A>T (p.Lys1135Met)
10g.75029294G>ACA470299806DUSP29,KAT6Bc.4470G>A (p.Lys1490=)
c.3921G>A (p.Lys1307=)
c.3594G>A (p.Lys1198=)
n.577-2700C>T
c.*3622-2700C>T (n.*3622-2700C>T)
c.4308G>A (p.Lys1436=)
c.3432G>A (p.Lys1144=)
c.2781G>A (p.Lys927=)
c.2385G>A (p.Lys795=)
c.2127G>A (p.Lys709=)
c.3405G>A (p.Lys1135=)
 gnomAD v4
10g.75029294G>CCA377297191DUSP29,KAT6Bc.4470G>C (p.Lys1490Asn)
c.3921G>C (p.Lys1307Asn)
c.3594G>C (p.Lys1198Asn)
n.577-2700C>G
c.*3622-2700C>G (n.*3622-2700C>G)
c.4308G>C (p.Lys1436Asn)
c.3432G>C (p.Lys1144Asn)
c.2781G>C (p.Lys927Asn)
c.2385G>C (p.Lys795Asn)
c.2127G>C (p.Lys709Asn)
c.3405G>C (p.Lys1135Asn)
10g.75029294G>TCA377297194DUSP29,KAT6Bc.4470G>T (p.Lys1490Asn)
c.3921G>T (p.Lys1307Asn)
c.3594G>T (p.Lys1198Asn)
n.577-2700C>A
c.*3622-2700C>A (n.*3622-2700C>A)
c.4308G>T (p.Lys1436Asn)
c.3432G>T (p.Lys1144Asn)
c.2781G>T (p.Lys927Asn)
c.2385G>T (p.Lys795Asn)
c.2127G>T (p.Lys709Asn)
c.3405G>T (p.Lys1135Asn)
 COSMIC
10g.75029295G>ACA5565038DUSP29,KAT6Bc.4471G>A (p.Glu1491Lys)
c.3922G>A (p.Glu1308Lys)
c.3595G>A (p.Glu1199Lys)
n.577-2701C>T
c.*3622-2701C>T (n.*3622-2701C>T)
c.4309G>A (p.Glu1437Lys)
c.3433G>A (p.Glu1145Lys)
c.2782G>A (p.Glu928Lys)
c.2386G>A (p.Glu796Lys)
c.2128G>A (p.Glu710Lys)
c.3406G>A (p.Glu1136Lys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.75029295G>CCA377297201DUSP29,KAT6Bc.4471G>C (p.Glu1491Gln)
c.3922G>C (p.Glu1308Gln)
c.3595G>C (p.Glu1199Gln)
n.577-2701C>G
c.*3622-2701C>G (n.*3622-2701C>G)
c.4309G>C (p.Glu1437Gln)
c.3433G>C (p.Glu1145Gln)
c.2782G>C (p.Glu928Gln)
c.2386G>C (p.Glu796Gln)
c.2128G>C (p.Glu710Gln)
c.3406G>C (p.Glu1136Gln)
10g.75029295G=CA1920306675DUSP29,KAT6Bc.4471G= (p.Glu1491=)
c.3922G= (p.Glu1308=)
c.3595G= (p.Glu1199=)
n.577-2701C=
c.*3622-2701C= (n.*3622-2701C=)
c.4309G= (p.Glu1437=)
c.3433G= (p.Glu1145=)
c.2782G= (p.Glu928=)
c.2386G= (p.Glu796=)
c.2128G= (p.Glu710=)
c.3406G= (p.Glu1136=)
10g.75029295G>TCA377297199DUSP29,KAT6Bc.4471G>T (p.Glu1491Ter)
c.3922G>T (p.Glu1308Ter)
c.3595G>T (p.Glu1199Ter)
n.577-2701C>A
c.*3622-2701C>A (n.*3622-2701C>A)
c.4309G>T (p.Glu1437Ter)
c.3433G>T (p.Glu1145Ter)
c.2782G>T (p.Glu928Ter)
c.2386G>T (p.Glu796Ter)
c.2128G>T (p.Glu710Ter)
c.3406G>T (p.Glu1136Ter)
10g.75029296A>CCA377297207DUSP29,KAT6Bc.4472A>C (p.Glu1491Ala)
c.3923A>C (p.Glu1308Ala)
c.3596A>C (p.Glu1199Ala)
n.577-2702T>G
c.*3622-2702T>G (n.*3622-2702T>G)
c.4310A>C (p.Glu1437Ala)
c.3434A>C (p.Glu1145Ala)
c.2783A>C (p.Glu928Ala)
c.2387A>C (p.Glu796Ala)
c.2129A>C (p.Glu710Ala)
c.3407A>C (p.Glu1136Ala)
10g.75029296A>GCA377297209DUSP29,KAT6Bc.4472A>G (p.Glu1491Gly)
c.3923A>G (p.Glu1308Gly)
c.3596A>G (p.Glu1199Gly)
n.577-2702T>C
c.*3622-2702T>C (n.*3622-2702T>C)
c.4310A>G (p.Glu1437Gly)
c.3434A>G (p.Glu1145Gly)
c.2783A>G (p.Glu928Gly)
c.2387A>G (p.Glu796Gly)
c.2129A>G (p.Glu710Gly)
c.3407A>G (p.Glu1136Gly)
10g.75029296A>TCA377297213DUSP29,KAT6Bc.4472A>T (p.Glu1491Val)
c.3923A>T (p.Glu1308Val)
c.3596A>T (p.Glu1199Val)
n.577-2702T>A
c.*3622-2702T>A (n.*3622-2702T>A)
c.4310A>T (p.Glu1437Val)
c.3434A>T (p.Glu1145Val)
c.2783A>T (p.Glu928Val)
c.2387A>T (p.Glu796Val)
c.2129A>T (p.Glu710Val)
c.3407A>T (p.Glu1136Val)
10g.75029297G>ACA470299808DUSP29,KAT6Bc.4473G>A (p.Glu1491=)
c.3924G>A (p.Glu1308=)
c.3597G>A (p.Glu1199=)
n.577-2703C>T
c.*3622-2703C>T (n.*3622-2703C>T)
c.4311G>A (p.Glu1437=)
c.3435G>A (p.Glu1145=)
c.2784G>A (p.Glu928=)
c.2388G>A (p.Glu796=)
c.2130G>A (p.Glu710=)
c.3408G>A (p.Glu1136=)
 gnomAD v4
10g.75029297G>CCA377297216DUSP29,KAT6Bc.4473G>C (p.Glu1491Asp)
c.3924G>C (p.Glu1308Asp)
c.3597G>C (p.Glu1199Asp)
n.577-2703C>G
c.*3622-2703C>G (n.*3622-2703C>G)
c.4311G>C (p.Glu1437Asp)
c.3435G>C (p.Glu1145Asp)
c.2784G>C (p.Glu928Asp)
c.2388G>C (p.Glu796Asp)
c.2130G>C (p.Glu710Asp)
c.3408G>C (p.Glu1136Asp)
10g.75029297G>TCA377297217DUSP29,KAT6Bc.4473G>T (p.Glu1491Asp)
c.3924G>T (p.Glu1308Asp)
c.3597G>T (p.Glu1199Asp)
n.577-2703C>A
c.*3622-2703C>A (n.*3622-2703C>A)
c.4311G>T (p.Glu1437Asp)
c.3435G>T (p.Glu1145Asp)
c.2784G>T (p.Glu928Asp)
c.2388G>T (p.Glu796Asp)
c.2130G>T (p.Glu710Asp)
c.3408G>T (p.Glu1136Asp)
 gnomAD v4
10g.75029298C>ACA377297218DUSP29,KAT6Bc.4474C>A (p.Leu1492Ile)
c.3925C>A (p.Leu1309Ile)
c.3598C>A (p.Leu1200Ile)
n.577-2704G>T
c.*3622-2704G>T (n.*3622-2704G>T)
c.4312C>A (p.Leu1438Ile)
c.3436C>A (p.Leu1146Ile)
c.2785C>A (p.Leu929Ile)
c.2389C>A (p.Leu797Ile)
c.2131C>A (p.Leu711Ile)
c.3409C>A (p.Leu1137Ile)
10g.75029298C=CA1920306676DUSP29,KAT6Bc.4474C= (p.Leu1492=)
c.3925C= (p.Leu1309=)
c.3598C= (p.Leu1200=)
n.577-2704G=
c.*3622-2704G= (n.*3622-2704G=)
c.4312C= (p.Leu1438=)
c.3436C= (p.Leu1146=)
c.2785C= (p.Leu929=)
c.2389C= (p.Leu797=)
c.2131C= (p.Leu711=)
c.3409C= (p.Leu1137=)
10g.75029298C>GCA377297221DUSP29,KAT6Bc.4474C>G (p.Leu1492Val)
c.3925C>G (p.Leu1309Val)
c.3598C>G (p.Leu1200Val)
n.577-2704G>C
c.*3622-2704G>C (n.*3622-2704G>C)
c.4312C>G (p.Leu1438Val)
c.3436C>G (p.Leu1146Val)
c.2785C>G (p.Leu929Val)
c.2389C>G (p.Leu797Val)
c.2131C>G (p.Leu711Val)
c.3409C>G (p.Leu1137Val)
 ClinVar dbSNP gnomAD v3 gnomAD v4
10g.75029298C>TCA377297219DUSP29,KAT6Bc.4474C>T (p.Leu1492Phe)
c.3925C>T (p.Leu1309Phe)
c.3598C>T (p.Leu1200Phe)
n.577-2704G>A
c.*3622-2704G>A (n.*3622-2704G>A)
c.4312C>T (p.Leu1438Phe)
c.3436C>T (p.Leu1146Phe)
c.2785C>T (p.Leu929Phe)
c.2389C>T (p.Leu797Phe)
c.2131C>T (p.Leu711Phe)
c.3409C>T (p.Leu1137Phe)
 gnomAD v4
10g.75029299T>ACA377297224DUSP29,KAT6Bc.4475T>A (p.Leu1492His)
c.3926T>A (p.Leu1309His)
c.3599T>A (p.Leu1200His)
n.577-2705A>T
c.*3622-2705A>T (n.*3622-2705A>T)
c.4313T>A (p.Leu1438His)
c.3437T>A (p.Leu1146His)
c.2786T>A (p.Leu929His)
c.2390T>A (p.Leu797His)
c.2132T>A (p.Leu711His)
c.3410T>A (p.Leu1137His)
10g.75029299T>CCA377297227DUSP29,KAT6Bc.4475T>C (p.Leu1492Pro)
c.3926T>C (p.Leu1309Pro)
c.3599T>C (p.Leu1200Pro)
n.577-2705A>G
c.*3622-2705A>G (n.*3622-2705A>G)
c.4313T>C (p.Leu1438Pro)
c.3437T>C (p.Leu1146Pro)
c.2786T>C (p.Leu929Pro)
c.2390T>C (p.Leu797Pro)
c.2132T>C (p.Leu711Pro)
c.3410T>C (p.Leu1137Pro)
 gnomAD v4
10g.75029299T>GCA377297230DUSP29,KAT6Bc.4475T>G (p.Leu1492Arg)
c.3926T>G (p.Leu1309Arg)
c.3599T>G (p.Leu1200Arg)
n.577-2705A>C
c.*3622-2705A>C (n.*3622-2705A>C)
c.4313T>G (p.Leu1438Arg)
c.3437T>G (p.Leu1146Arg)
c.2786T>G (p.Leu929Arg)
c.2390T>G (p.Leu797Arg)
c.2132T>G (p.Leu711Arg)
c.3410T>G (p.Leu1137Arg)
10g.75029300T>ACA470299809DUSP29,KAT6Bc.4476T>A (p.Leu1492=)
c.3927T>A (p.Leu1309=)
c.3600T>A (p.Leu1200=)
n.577-2706A>T
c.*3622-2706A>T (n.*3622-2706A>T)
c.4314T>A (p.Leu1438=)
c.3438T>A (p.Leu1146=)
c.2787T>A (p.Leu929=)
c.2391T>A (p.Leu797=)
c.2133T>A (p.Leu711=)
c.3411T>A (p.Leu1137=)
10g.75029300T>CCA470299811DUSP29,KAT6Bc.4476T>C (p.Leu1492=)
c.3927T>C (p.Leu1309=)
c.3600T>C (p.Leu1200=)
n.577-2706A>G
c.*3622-2706A>G (n.*3622-2706A>G)
c.4314T>C (p.Leu1438=)
c.3438T>C (p.Leu1146=)
c.2787T>C (p.Leu929=)
c.2391T>C (p.Leu797=)
c.2133T>C (p.Leu711=)
c.3411T>C (p.Leu1137=)
10g.75029300T>GCA470299810DUSP29,KAT6Bc.4476T>G (p.Leu1492=)
c.3927T>G (p.Leu1309=)
c.3600T>G (p.Leu1200=)
n.577-2706A>C
c.*3622-2706A>C (n.*3622-2706A>C)
c.4314T>G (p.Leu1438=)
c.3438T>G (p.Leu1146=)
c.2787T>G (p.Leu929=)
c.2391T>G (p.Leu797=)
c.2133T>G (p.Leu711=)
c.3411T>G (p.Leu1137=)
10g.75029301G>ACA377297237DUSP29,KAT6Bc.4477G>A (p.Ala1493Thr)
c.3928G>A (p.Ala1310Thr)
c.3601G>A (p.Ala1201Thr)
n.577-2707C>T
c.*3622-2707C>T (n.*3622-2707C>T)
c.4315G>A (p.Ala1439Thr)
c.3439G>A (p.Ala1147Thr)
c.2788G>A (p.Ala930Thr)
c.2392G>A (p.Ala798Thr)
c.2134G>A (p.Ala712Thr)
c.3412G>A (p.Ala1138Thr)
10g.75029301G>CCA377297239DUSP29,KAT6Bc.4477G>C (p.Ala1493Pro)
c.3928G>C (p.Ala1310Pro)
c.3601G>C (p.Ala1201Pro)
n.577-2707C>G
c.*3622-2707C>G (n.*3622-2707C>G)
c.4315G>C (p.Ala1439Pro)
c.3439G>C (p.Ala1147Pro)
c.2788G>C (p.Ala930Pro)
c.2392G>C (p.Ala798Pro)
c.2134G>C (p.Ala712Pro)
c.3412G>C (p.Ala1138Pro)
10g.75029301G>TCA377297240DUSP29,KAT6Bc.4477G>T (p.Ala1493Ser)
c.3928G>T (p.Ala1310Ser)
c.3601G>T (p.Ala1201Ser)
n.577-2707C>A
c.*3622-2707C>A (n.*3622-2707C>A)
c.4315G>T (p.Ala1439Ser)
c.3439G>T (p.Ala1147Ser)
c.2788G>T (p.Ala930Ser)
c.2392G>T (p.Ala798Ser)
c.2134G>T (p.Ala712Ser)
c.3412G>T (p.Ala1138Ser)
 gnomAD v4
10g.75029302C>ACA377297242DUSP29,KAT6Bc.4478C>A (p.Ala1493Asp)
c.3929C>A (p.Ala1310Asp)
c.3602C>A (p.Ala1201Asp)
n.577-2708G>T
c.*3622-2708G>T (n.*3622-2708G>T)
c.4316C>A (p.Ala1439Asp)
c.3440C>A (p.Ala1147Asp)
c.2789C>A (p.Ala930Asp)
c.2393C>A (p.Ala798Asp)
c.2135C>A (p.Ala712Asp)
c.3413C>A (p.Ala1138Asp)
10g.75029302C=CA1920306677DUSP29,KAT6Bc.4478C= (p.Ala1493=)
c.3929C= (p.Ala1310=)
c.3602C= (p.Ala1201=)
n.577-2708G=
c.*3622-2708G= (n.*3622-2708G=)
c.4316C= (p.Ala1439=)
c.3440C= (p.Ala1147=)
c.2789C= (p.Ala930=)
c.2393C= (p.Ala798=)
c.2135C= (p.Ala712=)
c.3413C= (p.Ala1138=)
10g.75029302C>GCA377297244DUSP29,KAT6Bc.4478C>G (p.Ala1493Gly)
c.3929C>G (p.Ala1310Gly)
c.3602C>G (p.Ala1201Gly)
n.577-2708G>C
c.*3622-2708G>C (n.*3622-2708G>C)
c.4316C>G (p.Ala1439Gly)
c.3440C>G (p.Ala1147Gly)
c.2789C>G (p.Ala930Gly)
c.2393C>G (p.Ala798Gly)
c.2135C>G (p.Ala712Gly)
c.3413C>G (p.Ala1138Gly)
10g.75029302C>TCA5565039DUSP29,KAT6Bc.4478C>T (p.Ala1493Val)
c.3929C>T (p.Ala1310Val)
c.3602C>T (p.Ala1201Val)
n.577-2708G>A
c.*3622-2708G>A (n.*3622-2708G>A)
c.4316C>T (p.Ala1439Val)
c.3440C>T (p.Ala1147Val)
c.2789C>T (p.Ala930Val)
c.2393C>T (p.Ala798Val)
c.2135C>T (p.Ala712Val)
c.3413C>T (p.Ala1138Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.75029303T>ACA470299813DUSP29,KAT6Bc.4479T>A (p.Ala1493=)
c.3930T>A (p.Ala1310=)
c.3603T>A (p.Ala1201=)
n.577-2709A>T
c.*3622-2709A>T (n.*3622-2709A>T)
c.4317T>A (p.Ala1439=)
c.3441T>A (p.Ala1147=)
c.2790T>A (p.Ala930=)
c.2394T>A (p.Ala798=)
c.2136T>A (p.Ala712=)
c.3414T>A (p.Ala1138=)
 dbSNP
10g.75029303T>CCA470299814DUSP29,KAT6Bc.4479T>C (p.Ala1493=)
c.3930T>C (p.Ala1310=)
c.3603T>C (p.Ala1201=)
n.577-2709A>G
c.*3622-2709A>G (n.*3622-2709A>G)
c.4317T>C (p.Ala1439=)
c.3441T>C (p.Ala1147=)
c.2790T>C (p.Ala930=)
c.2394T>C (p.Ala798=)
c.2136T>C (p.Ala712=)
c.3414T>C (p.Ala1138=)
10g.75029303T>GCA470299815DUSP29,KAT6Bc.4479T>G (p.Ala1493=)
c.3930T>G (p.Ala1310=)
c.3603T>G (p.Ala1201=)
n.577-2709A>C
c.*3622-2709A>C (n.*3622-2709A>C)
c.4317T>G (p.Ala1439=)
c.3441T>G (p.Ala1147=)
c.2790T>G (p.Ala930=)
c.2394T>G (p.Ala798=)
c.2136T>G (p.Ala712=)
c.3414T>G (p.Ala1138=)
10g.75029303T=CA1920306678DUSP29,KAT6Bc.4479T= (p.Ala1493=)
c.3930T= (p.Ala1310=)
c.3603T= (p.Ala1201=)
n.577-2709A=
c.*3622-2709A= (n.*3622-2709A=)
c.4317T= (p.Ala1439=)
c.3441T= (p.Ala1147=)
c.2790T= (p.Ala930=)
c.2394T= (p.Ala798=)
c.2136T= (p.Ala712=)
c.3414T= (p.Ala1138=)
10g.75029304G>ACA377297251DUSP29,KAT6Bc.4480G>A (p.Gly1494Arg)
c.3931G>A (p.Gly1311Arg)
c.3604G>A (p.Gly1202Arg)
n.577-2710C>T
c.*3622-2710C>T (n.*3622-2710C>T)
c.4318G>A (p.Gly1440Arg)
c.3442G>A (p.Gly1148Arg)
c.2791G>A (p.Gly931Arg)
c.2395G>A (p.Gly799Arg)
c.2137G>A (p.Gly713Arg)
c.3415G>A (p.Gly1139Arg)
10g.75029304G>CCA377297253DUSP29,KAT6Bc.4480G>C (p.Gly1494Arg)
c.3931G>C (p.Gly1311Arg)
c.3604G>C (p.Gly1202Arg)
n.577-2710C>G
c.*3622-2710C>G (n.*3622-2710C>G)
c.4318G>C (p.Gly1440Arg)
c.3442G>C (p.Gly1148Arg)
c.2791G>C (p.Gly931Arg)
c.2395G>C (p.Gly799Arg)
c.2137G>C (p.Gly713Arg)
c.3415G>C (p.Gly1139Arg)
10g.75029304G>TCA377297256DUSP29,KAT6Bc.4480G>T (p.Gly1494Trp)
c.3931G>T (p.Gly1311Trp)
c.3604G>T (p.Gly1202Trp)
n.577-2710C>A
c.*3622-2710C>A (n.*3622-2710C>A)
c.4318G>T (p.Gly1440Trp)
c.3442G>T (p.Gly1148Trp)
c.2791G>T (p.Gly931Trp)
c.2395G>T (p.Gly799Trp)
c.2137G>T (p.Gly713Trp)
c.3415G>T (p.Gly1139Trp)
10g.75029305G>ACA377297260DUSP29,KAT6Bc.4481G>A (p.Gly1494Glu)
c.3932G>A (p.Gly1311Glu)
c.3605G>A (p.Gly1202Glu)
n.577-2711C>T
c.*3622-2711C>T (n.*3622-2711C>T)
c.4319G>A (p.Gly1440Glu)
c.3443G>A (p.Gly1148Glu)
c.2792G>A (p.Gly931Glu)
c.2396G>A (p.Gly799Glu)
c.2138G>A (p.Gly713Glu)
c.3416G>A (p.Gly1139Glu)
 gnomAD v4
10g.75029305G>CCA377297266DUSP29,KAT6Bc.4481G>C (p.Gly1494Ala)
c.3932G>C (p.Gly1311Ala)
c.3605G>C (p.Gly1202Ala)
n.577-2711C>G
c.*3622-2711C>G (n.*3622-2711C>G)
c.4319G>C (p.Gly1440Ala)
c.3443G>C (p.Gly1148Ala)
c.2792G>C (p.Gly931Ala)
c.2396G>C (p.Gly799Ala)
c.2138G>C (p.Gly713Ala)
c.3416G>C (p.Gly1139Ala)
10g.75029305G>TCA377297262DUSP29,KAT6Bc.4481G>T (p.Gly1494Val)
c.3932G>T (p.Gly1311Val)
c.3605G>T (p.Gly1202Val)
n.577-2711C>A
c.*3622-2711C>A (n.*3622-2711C>A)
c.4319G>T (p.Gly1440Val)
c.3443G>T (p.Gly1148Val)
c.2792G>T (p.Gly931Val)
c.2396G>T (p.Gly799Val)
c.2138G>T (p.Gly713Val)
c.3416G>T (p.Gly1139Val)
10g.75029306G>ACA470299817DUSP29,KAT6Bc.4482G>A (p.Gly1494=)
c.3933G>A (p.Gly1311=)
c.3606G>A (p.Gly1202=)
n.577-2712C>T
c.*3622-2712C>T (n.*3622-2712C>T)
c.4320G>A (p.Gly1440=)
c.3444G>A (p.Gly1148=)
c.2793G>A (p.Gly931=)
c.2397G>A (p.Gly799=)
c.2139G>A (p.Gly713=)
c.3417G>A (p.Gly1139=)
 gnomAD v4
10g.75029306G>CCA470299818DUSP29,KAT6Bc.4482G>C (p.Gly1494=)
c.3933G>C (p.Gly1311=)
c.3606G>C (p.Gly1202=)
n.577-2712C>G
c.*3622-2712C>G (n.*3622-2712C>G)
c.4320G>C (p.Gly1440=)
c.3444G>C (p.Gly1148=)
c.2793G>C (p.Gly931=)
c.2397G>C (p.Gly799=)
c.2139G>C (p.Gly713=)
c.3417G>C (p.Gly1139=)
10g.75029306G>TCA470299819DUSP29,KAT6Bc.4482G>T (p.Gly1494=)
c.3933G>T (p.Gly1311=)
c.3606G>T (p.Gly1202=)
n.577-2712C>A
c.*3622-2712C>A (n.*3622-2712C>A)
c.4320G>T (p.Gly1440=)
c.3444G>T (p.Gly1148=)
c.2793G>T (p.Gly931=)
c.2397G>T (p.Gly799=)
c.2139G>T (p.Gly713=)
c.3417G>T (p.Gly1139=)

Number of alleles fetched