Chr Mutation (hg38) CAid Gene Transcript Linkouts
10g.75029951C>ACA470300530DUSP29,KAT6Bc.5127C>A (p.Leu1709=)
c.4578C>A (p.Leu1526=)
c.4251C>A (p.Leu1417=)
n.577-3357G>T
c.*3622-3357G>T (n.*3622-3357G>T)
c.4965C>A (p.Leu1655=)
c.4089C>A (p.Leu1363=)
c.3438C>A (p.Leu1146=)
c.3042C>A (p.Leu1014=)
c.2784C>A (p.Leu928=)
c.4062C>A (p.Leu1354=)
10g.75029951C=CA1920306889DUSP29,KAT6Bc.5127C= (p.Leu1709=)
c.4578C= (p.Leu1526=)
c.4251C= (p.Leu1417=)
n.577-3357G=
c.*3622-3357G= (n.*3622-3357G=)
c.4965C= (p.Leu1655=)
c.4089C= (p.Leu1363=)
c.3438C= (p.Leu1146=)
c.3042C= (p.Leu1014=)
c.2784C= (p.Leu928=)
c.4062C= (p.Leu1354=)
10g.75029951C>GCA470300531DUSP29,KAT6Bc.5127C>G (p.Leu1709=)
c.4578C>G (p.Leu1526=)
c.4251C>G (p.Leu1417=)
n.577-3357G>C
c.*3622-3357G>C (n.*3622-3357G>C)
c.4965C>G (p.Leu1655=)
c.4089C>G (p.Leu1363=)
c.3438C>G (p.Leu1146=)
c.3042C>G (p.Leu1014=)
c.2784C>G (p.Leu928=)
c.4062C>G (p.Leu1354=)
10g.75029951C>TCA5565145DUSP29,KAT6Bc.5127C>T (p.Leu1709=)
c.4578C>T (p.Leu1526=)
c.4251C>T (p.Leu1417=)
n.577-3357G>A
c.*3622-3357G>A (n.*3622-3357G>A)
c.4965C>T (p.Leu1655=)
c.4089C>T (p.Leu1363=)
c.3438C>T (p.Leu1146=)
c.3042C>T (p.Leu1014=)
c.2784C>T (p.Leu928=)
c.4062C>T (p.Leu1354=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.75029952A=CA1920306890DUSP29,KAT6Bc.5128A= (p.Thr1710=)
c.4579A= (p.Thr1527=)
c.4252A= (p.Thr1418=)
n.577-3358T=
c.*3622-3358T= (n.*3622-3358T=)
c.4966A= (p.Thr1656=)
c.4090A= (p.Thr1364=)
c.3439A= (p.Thr1147=)
c.3043A= (p.Thr1015=)
c.2785A= (p.Thr929=)
c.4063A= (p.Thr1355=)
10g.75029952A>CCA377300010DUSP29,KAT6Bc.5128A>C (p.Thr1710Pro)
c.4579A>C (p.Thr1527Pro)
c.4252A>C (p.Thr1418Pro)
n.577-3358T>G
c.*3622-3358T>G (n.*3622-3358T>G)
c.4966A>C (p.Thr1656Pro)
c.4090A>C (p.Thr1364Pro)
c.3439A>C (p.Thr1147Pro)
c.3043A>C (p.Thr1015Pro)
c.2785A>C (p.Thr929Pro)
c.4063A>C (p.Thr1355Pro)
 dbSNP
10g.75029952A>GCA377300012DUSP29,KAT6Bc.5128A>G (p.Thr1710Ala)
c.4579A>G (p.Thr1527Ala)
c.4252A>G (p.Thr1418Ala)
n.577-3358T>C
c.*3622-3358T>C (n.*3622-3358T>C)
c.4966A>G (p.Thr1656Ala)
c.4090A>G (p.Thr1364Ala)
c.3439A>G (p.Thr1147Ala)
c.3043A>G (p.Thr1015Ala)
c.2785A>G (p.Thr929Ala)
c.4063A>G (p.Thr1355Ala)
 gnomAD v4
10g.75029952A>TCA377300014DUSP29,KAT6Bc.5128A>T (p.Thr1710Ser)
c.4579A>T (p.Thr1527Ser)
c.4252A>T (p.Thr1418Ser)
n.577-3358T>A
c.*3622-3358T>A (n.*3622-3358T>A)
c.4966A>T (p.Thr1656Ser)
c.4090A>T (p.Thr1364Ser)
c.3439A>T (p.Thr1147Ser)
c.3043A>T (p.Thr1015Ser)
c.2785A>T (p.Thr929Ser)
c.4063A>T (p.Thr1355Ser)
10g.75029953C>ACA377300016DUSP29,KAT6Bc.5129C>A (p.Thr1710Asn)
c.4580C>A (p.Thr1527Asn)
c.4253C>A (p.Thr1418Asn)
n.577-3359G>T
c.*3622-3359G>T (n.*3622-3359G>T)
c.4967C>A (p.Thr1656Asn)
c.4091C>A (p.Thr1364Asn)
c.3440C>A (p.Thr1147Asn)
c.3044C>A (p.Thr1015Asn)
c.2786C>A (p.Thr929Asn)
c.4064C>A (p.Thr1355Asn)
10g.75029953C>GCA377300017DUSP29,KAT6Bc.5129C>G (p.Thr1710Ser)
c.4580C>G (p.Thr1527Ser)
c.4253C>G (p.Thr1418Ser)
n.577-3359G>C
c.*3622-3359G>C (n.*3622-3359G>C)
c.4967C>G (p.Thr1656Ser)
c.4091C>G (p.Thr1364Ser)
c.3440C>G (p.Thr1147Ser)
c.3044C>G (p.Thr1015Ser)
c.2786C>G (p.Thr929Ser)
c.4064C>G (p.Thr1355Ser)
10g.75029953C>TCA377300019DUSP29,KAT6Bc.5129C>T (p.Thr1710Ile)
c.4580C>T (p.Thr1527Ile)
c.4253C>T (p.Thr1418Ile)
n.577-3359G>A
c.*3622-3359G>A (n.*3622-3359G>A)
c.4967C>T (p.Thr1656Ile)
c.4091C>T (p.Thr1364Ile)
c.3440C>T (p.Thr1147Ile)
c.3044C>T (p.Thr1015Ile)
c.2786C>T (p.Thr929Ile)
c.4064C>T (p.Thr1355Ile)
10g.75029954C>ACA470300548DUSP29,KAT6Bc.5130C>A (p.Thr1710=)
c.4581C>A (p.Thr1527=)
c.4254C>A (p.Thr1418=)
n.577-3360G>T
c.*3622-3360G>T (n.*3622-3360G>T)
c.4968C>A (p.Thr1656=)
c.4092C>A (p.Thr1364=)
c.3441C>A (p.Thr1147=)
c.3045C>A (p.Thr1015=)
c.2787C>A (p.Thr929=)
c.4065C>A (p.Thr1355=)
10g.75029954C=CA1920306891DUSP29,KAT6Bc.5130C= (p.Thr1710=)
c.4581C= (p.Thr1527=)
c.4254C= (p.Thr1418=)
n.577-3360G=
c.*3622-3360G= (n.*3622-3360G=)
c.4968C= (p.Thr1656=)
c.4092C= (p.Thr1364=)
c.3441C= (p.Thr1147=)
c.3045C= (p.Thr1015=)
c.2787C= (p.Thr929=)
c.4065C= (p.Thr1355=)
10g.75029954C>GCA470300543DUSP29,KAT6Bc.5130C>G (p.Thr1710=)
c.4581C>G (p.Thr1527=)
c.4254C>G (p.Thr1418=)
n.577-3360G>C
c.*3622-3360G>C (n.*3622-3360G>C)
c.4968C>G (p.Thr1656=)
c.4092C>G (p.Thr1364=)
c.3441C>G (p.Thr1147=)
c.3045C>G (p.Thr1015=)
c.2787C>G (p.Thr929=)
c.4065C>G (p.Thr1355=)
10g.75029954C>TCA470300542DUSP29,KAT6Bc.5130C>T (p.Thr1710=)
c.4581C>T (p.Thr1527=)
c.4254C>T (p.Thr1418=)
n.577-3360G>A
c.*3622-3360G>A (n.*3622-3360G>A)
c.4968C>T (p.Thr1656=)
c.4092C>T (p.Thr1364=)
c.3441C>T (p.Thr1147=)
c.3045C>T (p.Thr1015=)
c.2787C>T (p.Thr929=)
c.4065C>T (p.Thr1355=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.75029955delCA2695212222DUSP29,KAT6Bc.5131del (p.Ser1711ProfsTer4)
c.4582del (p.Ser1528ProfsTer4)
c.4255del (p.Ser1419ProfsTer4)
n.577-3361del
c.*3622-3361del (n.*3622-3361del)
c.4969del (p.Ser1657ProfsTer4)
c.4093del (p.Ser1365ProfsTer4)
c.3442del (p.Ser1148ProfsTer4)
c.3046del (p.Ser1016ProfsTer4)
c.2788del (p.Ser930ProfsTer4)
c.4066del (p.Ser1356ProfsTer4)
10g.75029955T>ACA377300021DUSP29,KAT6Bc.5131T>A (p.Ser1711Thr)
c.4582T>A (p.Ser1528Thr)
c.4255T>A (p.Ser1419Thr)
n.577-3361A>T
c.*3622-3361A>T (n.*3622-3361A>T)
c.4969T>A (p.Ser1657Thr)
c.4093T>A (p.Ser1365Thr)
c.3442T>A (p.Ser1148Thr)
c.3046T>A (p.Ser1016Thr)
c.2788T>A (p.Ser930Thr)
c.4066T>A (p.Ser1356Thr)
10g.75029955T>CCA377300023DUSP29,KAT6Bc.5131T>C (p.Ser1711Pro)
c.4582T>C (p.Ser1528Pro)
c.4255T>C (p.Ser1419Pro)
n.577-3361A>G
c.*3622-3361A>G (n.*3622-3361A>G)
c.4969T>C (p.Ser1657Pro)
c.4093T>C (p.Ser1365Pro)
c.3442T>C (p.Ser1148Pro)
c.3046T>C (p.Ser1016Pro)
c.2788T>C (p.Ser930Pro)
c.4066T>C (p.Ser1356Pro)
10g.75029955T>GCA377300025DUSP29,KAT6Bc.5131T>G (p.Ser1711Ala)
c.4582T>G (p.Ser1528Ala)
c.4255T>G (p.Ser1419Ala)
n.577-3361A>C
c.*3622-3361A>C (n.*3622-3361A>C)
c.4969T>G (p.Ser1657Ala)
c.4093T>G (p.Ser1365Ala)
c.3442T>G (p.Ser1148Ala)
c.3046T>G (p.Ser1016Ala)
c.2788T>G (p.Ser930Ala)
c.4066T>G (p.Ser1356Ala)
10g.75029956C>ACA377300027DUSP29,KAT6Bc.5132C>A (p.Ser1711Tyr)
c.4583C>A (p.Ser1528Tyr)
c.4256C>A (p.Ser1419Tyr)
n.577-3362G>T
c.*3622-3362G>T (n.*3622-3362G>T)
c.4970C>A (p.Ser1657Tyr)
c.4094C>A (p.Ser1365Tyr)
c.3443C>A (p.Ser1148Tyr)
c.3047C>A (p.Ser1016Tyr)
c.2789C>A (p.Ser930Tyr)
c.4067C>A (p.Ser1356Tyr)
10g.75029956C>GCA377300030DUSP29,KAT6Bc.5132C>G (p.Ser1711Cys)
c.4583C>G (p.Ser1528Cys)
c.4256C>G (p.Ser1419Cys)
n.577-3362G>C
c.*3622-3362G>C (n.*3622-3362G>C)
c.4970C>G (p.Ser1657Cys)
c.4094C>G (p.Ser1365Cys)
c.3443C>G (p.Ser1148Cys)
c.3047C>G (p.Ser1016Cys)
c.2789C>G (p.Ser930Cys)
c.4067C>G (p.Ser1356Cys)
10g.75029956C>TCA377300028DUSP29,KAT6Bc.5132C>T (p.Ser1711Phe)
c.4583C>T (p.Ser1528Phe)
c.4256C>T (p.Ser1419Phe)
n.577-3362G>A
c.*3622-3362G>A (n.*3622-3362G>A)
c.4970C>T (p.Ser1657Phe)
c.4094C>T (p.Ser1365Phe)
c.3443C>T (p.Ser1148Phe)
c.3047C>T (p.Ser1016Phe)
c.2789C>T (p.Ser930Phe)
c.4067C>T (p.Ser1356Phe)
10g.75029957C>ACA470300557DUSP29,KAT6Bc.5133C>A (p.Ser1711=)
c.4584C>A (p.Ser1528=)
c.4257C>A (p.Ser1419=)
n.577-3363G>T
c.*3622-3363G>T (n.*3622-3363G>T)
c.4971C>A (p.Ser1657=)
c.4095C>A (p.Ser1365=)
c.3444C>A (p.Ser1148=)
c.3048C>A (p.Ser1016=)
c.2790C>A (p.Ser930=)
c.4068C>A (p.Ser1356=)
10g.75029957C=CA1920306892DUSP29,KAT6Bc.5133C= (p.Ser1711=)
c.4584C= (p.Ser1528=)
c.4257C= (p.Ser1419=)
n.577-3363G=
c.*3622-3363G= (n.*3622-3363G=)
c.4971C= (p.Ser1657=)
c.4095C= (p.Ser1365=)
c.3444C= (p.Ser1148=)
c.3048C= (p.Ser1016=)
c.2790C= (p.Ser930=)
c.4068C= (p.Ser1356=)
10g.75029957C>GCA470300554DUSP29,KAT6Bc.5133C>G (p.Ser1711=)
c.4584C>G (p.Ser1528=)
c.4257C>G (p.Ser1419=)
n.577-3363G>C
c.*3622-3363G>C (n.*3622-3363G>C)
c.4971C>G (p.Ser1657=)
c.4095C>G (p.Ser1365=)
c.3444C>G (p.Ser1148=)
c.3048C>G (p.Ser1016=)
c.2790C>G (p.Ser930=)
c.4068C>G (p.Ser1356=)
10g.75029957C>TCA470300552DUSP29,KAT6Bc.5133C>T (p.Ser1711=)
c.4584C>T (p.Ser1528=)
c.4257C>T (p.Ser1419=)
n.577-3363G>A
c.*3622-3363G>A (n.*3622-3363G>A)
c.4971C>T (p.Ser1657=)
c.4095C>T (p.Ser1365=)
c.3444C>T (p.Ser1148=)
c.3048C>T (p.Ser1016=)
c.2790C>T (p.Ser930=)
c.4068C>T (p.Ser1356=)
 dbSNP
10g.75029958A>CCA377300032DUSP29,KAT6Bc.5134A>C (p.Ser1712Arg)
c.4585A>C (p.Ser1529Arg)
c.4258A>C (p.Ser1420Arg)
n.577-3364T>G
c.*3622-3364T>G (n.*3622-3364T>G)
c.4972A>C (p.Ser1658Arg)
c.4096A>C (p.Ser1366Arg)
c.3445A>C (p.Ser1149Arg)
c.3049A>C (p.Ser1017Arg)
c.2791A>C (p.Ser931Arg)
c.4069A>C (p.Ser1357Arg)
10g.75029958A>GCA377300034DUSP29,KAT6Bc.5134A>G (p.Ser1712Gly)
c.4585A>G (p.Ser1529Gly)
c.4258A>G (p.Ser1420Gly)
n.577-3364T>C
c.*3622-3364T>C (n.*3622-3364T>C)
c.4972A>G (p.Ser1658Gly)
c.4096A>G (p.Ser1366Gly)
c.3445A>G (p.Ser1149Gly)
c.3049A>G (p.Ser1017Gly)
c.2791A>G (p.Ser931Gly)
c.4069A>G (p.Ser1357Gly)
10g.75029958A>TCA377300036DUSP29,KAT6Bc.5134A>T (p.Ser1712Cys)
c.4585A>T (p.Ser1529Cys)
c.4258A>T (p.Ser1420Cys)
n.577-3364T>A
c.*3622-3364T>A (n.*3622-3364T>A)
c.4972A>T (p.Ser1658Cys)
c.4096A>T (p.Ser1366Cys)
c.3445A>T (p.Ser1149Cys)
c.3049A>T (p.Ser1017Cys)
c.2791A>T (p.Ser931Cys)
c.4069A>T (p.Ser1357Cys)
10g.75029959G>ACA377300038DUSP29,KAT6Bc.5135G>A (p.Ser1712Asn)
c.4586G>A (p.Ser1529Asn)
c.4259G>A (p.Ser1420Asn)
n.577-3365C>T
c.*3622-3365C>T (n.*3622-3365C>T)
c.4973G>A (p.Ser1658Asn)
c.4097G>A (p.Ser1366Asn)
c.3446G>A (p.Ser1149Asn)
c.3050G>A (p.Ser1017Asn)
c.2792G>A (p.Ser931Asn)
c.4070G>A (p.Ser1357Asn)
10g.75029959G>CCA377300039DUSP29,KAT6Bc.5135G>C (p.Ser1712Thr)
c.4586G>C (p.Ser1529Thr)
c.4259G>C (p.Ser1420Thr)
n.577-3365C>G
c.*3622-3365C>G (n.*3622-3365C>G)
c.4973G>C (p.Ser1658Thr)
c.4097G>C (p.Ser1366Thr)
c.3446G>C (p.Ser1149Thr)
c.3050G>C (p.Ser1017Thr)
c.2792G>C (p.Ser931Thr)
c.4070G>C (p.Ser1357Thr)
10g.75029959G>TCA377300041DUSP29,KAT6Bc.5135G>T (p.Ser1712Ile)
c.4586G>T (p.Ser1529Ile)
c.4259G>T (p.Ser1420Ile)
n.577-3365C>A
c.*3622-3365C>A (n.*3622-3365C>A)
c.4973G>T (p.Ser1658Ile)
c.4097G>T (p.Ser1366Ile)
c.3446G>T (p.Ser1149Ile)
c.3050G>T (p.Ser1017Ile)
c.2792G>T (p.Ser931Ile)
c.4070G>T (p.Ser1357Ile)
10g.75029960C>ACA377300043DUSP29,KAT6Bc.5136C>A (p.Ser1712Arg)
c.4587C>A (p.Ser1529Arg)
c.4260C>A (p.Ser1420Arg)
n.577-3366G>T
c.*3622-3366G>T (n.*3622-3366G>T)
c.4974C>A (p.Ser1658Arg)
c.4098C>A (p.Ser1366Arg)
c.3447C>A (p.Ser1149Arg)
c.3051C>A (p.Ser1017Arg)
c.2793C>A (p.Ser931Arg)
c.4071C>A (p.Ser1357Arg)
10g.75029960C>GCA377300045DUSP29,KAT6Bc.5136C>G (p.Ser1712Arg)
c.4587C>G (p.Ser1529Arg)
c.4260C>G (p.Ser1420Arg)
n.577-3366G>C
c.*3622-3366G>C (n.*3622-3366G>C)
c.4974C>G (p.Ser1658Arg)
c.4098C>G (p.Ser1366Arg)
c.3447C>G (p.Ser1149Arg)
c.3051C>G (p.Ser1017Arg)
c.2793C>G (p.Ser931Arg)
c.4071C>G (p.Ser1357Arg)
 gnomAD v4
10g.75029960C>TCA470300568DUSP29,KAT6Bc.5136C>T (p.Ser1712=)
c.4587C>T (p.Ser1529=)
c.4260C>T (p.Ser1420=)
n.577-3366G>A
c.*3622-3366G>A (n.*3622-3366G>A)
c.4974C>T (p.Ser1658=)
c.4098C>T (p.Ser1366=)
c.3447C>T (p.Ser1149=)
c.3051C>T (p.Ser1017=)
c.2793C>T (p.Ser931=)
c.4071C>T (p.Ser1357=)
10g.75029961A>CCA377300047DUSP29,KAT6Bc.5137A>C (p.Ser1713Arg)
c.4588A>C (p.Ser1530Arg)
c.4261A>C (p.Ser1421Arg)
n.577-3367T>G
c.*3622-3367T>G (n.*3622-3367T>G)
c.4975A>C (p.Ser1659Arg)
c.4099A>C (p.Ser1367Arg)
c.3448A>C (p.Ser1150Arg)
c.3052A>C (p.Ser1018Arg)
c.2794A>C (p.Ser932Arg)
c.4072A>C (p.Ser1358Arg)
10g.75029961A>GCA377300048DUSP29,KAT6Bc.5137A>G (p.Ser1713Gly)
c.4588A>G (p.Ser1530Gly)
c.4261A>G (p.Ser1421Gly)
n.577-3367T>C
c.*3622-3367T>C (n.*3622-3367T>C)
c.4975A>G (p.Ser1659Gly)
c.4099A>G (p.Ser1367Gly)
c.3448A>G (p.Ser1150Gly)
c.3052A>G (p.Ser1018Gly)
c.2794A>G (p.Ser932Gly)
c.4072A>G (p.Ser1358Gly)
10g.75029961A>TCA377300050DUSP29,KAT6Bc.5137A>T (p.Ser1713Cys)
c.4588A>T (p.Ser1530Cys)
c.4261A>T (p.Ser1421Cys)
n.577-3367T>A
c.*3622-3367T>A (n.*3622-3367T>A)
c.4975A>T (p.Ser1659Cys)
c.4099A>T (p.Ser1367Cys)
c.3448A>T (p.Ser1150Cys)
c.3052A>T (p.Ser1018Cys)
c.2794A>T (p.Ser932Cys)
c.4072A>T (p.Ser1358Cys)
10g.75029962G>ACA377300052DUSP29,KAT6Bc.5138G>A (p.Ser1713Asn)
c.4589G>A (p.Ser1530Asn)
c.4262G>A (p.Ser1421Asn)
n.577-3368C>T
c.*3622-3368C>T (n.*3622-3368C>T)
c.4976G>A (p.Ser1659Asn)
c.4100G>A (p.Ser1367Asn)
c.3449G>A (p.Ser1150Asn)
c.3053G>A (p.Ser1018Asn)
c.2795G>A (p.Ser932Asn)
c.4073G>A (p.Ser1358Asn)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.75029962G>CCA377300053DUSP29,KAT6Bc.5138G>C (p.Ser1713Thr)
c.4589G>C (p.Ser1530Thr)
c.4262G>C (p.Ser1421Thr)
n.577-3368C>G
c.*3622-3368C>G (n.*3622-3368C>G)
c.4976G>C (p.Ser1659Thr)
c.4100G>C (p.Ser1367Thr)
c.3449G>C (p.Ser1150Thr)
c.3053G>C (p.Ser1018Thr)
c.2795G>C (p.Ser932Thr)
c.4073G>C (p.Ser1358Thr)
10g.75029962G=CA1920306893DUSP29,KAT6Bc.5138G= (p.Ser1713=)
c.4589G= (p.Ser1530=)
c.4262G= (p.Ser1421=)
n.577-3368C=
c.*3622-3368C= (n.*3622-3368C=)
c.4976G= (p.Ser1659=)
c.4100G= (p.Ser1367=)
c.3449G= (p.Ser1150=)
c.3053G= (p.Ser1018=)
c.2795G= (p.Ser932=)
c.4073G= (p.Ser1358=)
10g.75029962G>TCA377300055DUSP29,KAT6Bc.5138G>T (p.Ser1713Ile)
c.4589G>T (p.Ser1530Ile)
c.4262G>T (p.Ser1421Ile)
n.577-3368C>A
c.*3622-3368C>A (n.*3622-3368C>A)
c.4976G>T (p.Ser1659Ile)
c.4100G>T (p.Ser1367Ile)
c.3449G>T (p.Ser1150Ile)
c.3053G>T (p.Ser1018Ile)
c.2795G>T (p.Ser932Ile)
c.4073G>T (p.Ser1358Ile)
10g.75029963T>ACA377300057DUSP29,KAT6Bc.5139T>A (p.Ser1713Arg)
c.4590T>A (p.Ser1530Arg)
c.4263T>A (p.Ser1421Arg)
n.577-3369A>T
c.*3622-3369A>T (n.*3622-3369A>T)
c.4977T>A (p.Ser1659Arg)
c.4101T>A (p.Ser1367Arg)
c.3450T>A (p.Ser1150Arg)
c.3054T>A (p.Ser1018Arg)
c.2796T>A (p.Ser932Arg)
c.4074T>A (p.Ser1358Arg)
10g.75029963T>CCA470300581DUSP29,KAT6Bc.5139T>C (p.Ser1713=)
c.4590T>C (p.Ser1530=)
c.4263T>C (p.Ser1421=)
n.577-3369A>G
c.*3622-3369A>G (n.*3622-3369A>G)
c.4977T>C (p.Ser1659=)
c.4101T>C (p.Ser1367=)
c.3450T>C (p.Ser1150=)
c.3054T>C (p.Ser1018=)
c.2796T>C (p.Ser932=)
c.4074T>C (p.Ser1358=)
10g.75029963T>GCA377300059DUSP29,KAT6Bc.5139T>G (p.Ser1713Arg)
c.4590T>G (p.Ser1530Arg)
c.4263T>G (p.Ser1421Arg)
n.577-3369A>C
c.*3622-3369A>C (n.*3622-3369A>C)
c.4977T>G (p.Ser1659Arg)
c.4101T>G (p.Ser1367Arg)
c.3450T>G (p.Ser1150Arg)
c.3054T>G (p.Ser1018Arg)
c.2796T>G (p.Ser932Arg)
c.4074T>G (p.Ser1358Arg)
10g.75029964C>ACA377300061DUSP29,KAT6Bc.5140C>A (p.Leu1714Met)
c.4591C>A (p.Leu1531Met)
c.4264C>A (p.Leu1422Met)
n.577-3370G>T
c.*3622-3370G>T (n.*3622-3370G>T)
c.4978C>A (p.Leu1660Met)
c.4102C>A (p.Leu1368Met)
c.3451C>A (p.Leu1151Met)
c.3055C>A (p.Leu1019Met)
c.2797C>A (p.Leu933Met)
c.4075C>A (p.Leu1359Met)
10g.75029964C=CA1920306894DUSP29,KAT6Bc.5140C= (p.Leu1714=)
c.4591C= (p.Leu1531=)
c.4264C= (p.Leu1422=)
n.577-3370G=
c.*3622-3370G= (n.*3622-3370G=)
c.4978C= (p.Leu1660=)
c.4102C= (p.Leu1368=)
c.3451C= (p.Leu1151=)
c.3055C= (p.Leu1019=)
c.2797C= (p.Leu933=)
c.4075C= (p.Leu1359=)
10g.75029964C>GCA377300063DUSP29,KAT6Bc.5140C>G (p.Leu1714Val)
c.4591C>G (p.Leu1531Val)
c.4264C>G (p.Leu1422Val)
n.577-3370G>C
c.*3622-3370G>C (n.*3622-3370G>C)
c.4978C>G (p.Leu1660Val)
c.4102C>G (p.Leu1368Val)
c.3451C>G (p.Leu1151Val)
c.3055C>G (p.Leu1019Val)
c.2797C>G (p.Leu933Val)
c.4075C>G (p.Leu1359Val)
 dbSNP
10g.75029964C>TCA470300585DUSP29,KAT6Bc.5140C>T (p.Leu1714=)
c.4591C>T (p.Leu1531=)
c.4264C>T (p.Leu1422=)
n.577-3370G>A
c.*3622-3370G>A (n.*3622-3370G>A)
c.4978C>T (p.Leu1660=)
c.4102C>T (p.Leu1368=)
c.3451C>T (p.Leu1151=)
c.3055C>T (p.Leu1019=)
c.2797C>T (p.Leu933=)
c.4075C>T (p.Leu1359=)
10g.75029965T>ACA377300065DUSP29,KAT6Bc.5141T>A (p.Leu1714Gln)
c.4592T>A (p.Leu1531Gln)
c.4265T>A (p.Leu1422Gln)
n.577-3371A>T
c.*3622-3371A>T (n.*3622-3371A>T)
c.4979T>A (p.Leu1660Gln)
c.4103T>A (p.Leu1368Gln)
c.3452T>A (p.Leu1151Gln)
c.3056T>A (p.Leu1019Gln)
c.2798T>A (p.Leu933Gln)
c.4076T>A (p.Leu1359Gln)
10g.75029965T>CCA377300067DUSP29,KAT6Bc.5141T>C (p.Leu1714Pro)
c.4592T>C (p.Leu1531Pro)
c.4265T>C (p.Leu1422Pro)
n.577-3371A>G
c.*3622-3371A>G (n.*3622-3371A>G)
c.4979T>C (p.Leu1660Pro)
c.4103T>C (p.Leu1368Pro)
c.3452T>C (p.Leu1151Pro)
c.3056T>C (p.Leu1019Pro)
c.2798T>C (p.Leu933Pro)
c.4076T>C (p.Leu1359Pro)
10g.75029965T>GCA377300068DUSP29,KAT6Bc.5141T>G (p.Leu1714Arg)
c.4592T>G (p.Leu1531Arg)
c.4265T>G (p.Leu1422Arg)
n.577-3371A>C
c.*3622-3371A>C (n.*3622-3371A>C)
c.4979T>G (p.Leu1660Arg)
c.4103T>G (p.Leu1368Arg)
c.3452T>G (p.Leu1151Arg)
c.3056T>G (p.Leu1019Arg)
c.2798T>G (p.Leu933Arg)
c.4076T>G (p.Leu1359Arg)
10g.75029966G>ACA470300590DUSP29,KAT6Bc.5142G>A (p.Leu1714=)
c.4593G>A (p.Leu1531=)
c.4266G>A (p.Leu1422=)
n.577-3372C>T
c.*3622-3372C>T (n.*3622-3372C>T)
c.4980G>A (p.Leu1660=)
c.4104G>A (p.Leu1368=)
c.3453G>A (p.Leu1151=)
c.3057G>A (p.Leu1019=)
c.2799G>A (p.Leu933=)
c.4077G>A (p.Leu1359=)
10g.75029966G>CCA470300591DUSP29,KAT6Bc.5142G>C (p.Leu1714=)
c.4593G>C (p.Leu1531=)
c.4266G>C (p.Leu1422=)
n.577-3372C>G
c.*3622-3372C>G (n.*3622-3372C>G)
c.4980G>C (p.Leu1660=)
c.4104G>C (p.Leu1368=)
c.3453G>C (p.Leu1151=)
c.3057G>C (p.Leu1019=)
c.2799G>C (p.Leu933=)
c.4077G>C (p.Leu1359=)
10g.75029966G>TCA470300592DUSP29,KAT6Bc.5142G>T (p.Leu1714=)
c.4593G>T (p.Leu1531=)
c.4266G>T (p.Leu1422=)
n.577-3372C>A
c.*3622-3372C>A (n.*3622-3372C>A)
c.4980G>T (p.Leu1660=)
c.4104G>T (p.Leu1368=)
c.3453G>T (p.Leu1151=)
c.3057G>T (p.Leu1019=)
c.2799G>T (p.Leu933=)
c.4077G>T (p.Leu1359=)
10g.75029967A>CCA377300070DUSP29,KAT6Bc.5143A>C (p.Thr1715Pro)
c.4594A>C (p.Thr1532Pro)
c.4267A>C (p.Thr1423Pro)
n.577-3373T>G
c.*3622-3373T>G (n.*3622-3373T>G)
c.4981A>C (p.Thr1661Pro)
c.4105A>C (p.Thr1369Pro)
c.3454A>C (p.Thr1152Pro)
c.3058A>C (p.Thr1020Pro)
c.2800A>C (p.Thr934Pro)
c.4078A>C (p.Thr1360Pro)
10g.75029967A>GCA377300071DUSP29,KAT6Bc.5143A>G (p.Thr1715Ala)
c.4594A>G (p.Thr1532Ala)
c.4267A>G (p.Thr1423Ala)
n.577-3373T>C
c.*3622-3373T>C (n.*3622-3373T>C)
c.4981A>G (p.Thr1661Ala)
c.4105A>G (p.Thr1369Ala)
c.3454A>G (p.Thr1152Ala)
c.3058A>G (p.Thr1020Ala)
c.2800A>G (p.Thr934Ala)
c.4078A>G (p.Thr1360Ala)
10g.75029967A>TCA377300072DUSP29,KAT6Bc.5143A>T (p.Thr1715Ser)
c.4594A>T (p.Thr1532Ser)
c.4267A>T (p.Thr1423Ser)
n.577-3373T>A
c.*3622-3373T>A (n.*3622-3373T>A)
c.4981A>T (p.Thr1661Ser)
c.4105A>T (p.Thr1369Ser)
c.3454A>T (p.Thr1152Ser)
c.3058A>T (p.Thr1020Ser)
c.2800A>T (p.Thr934Ser)
c.4078A>T (p.Thr1360Ser)
10g.75029970_75029971delCA2580615517DUSP29,KAT6Bc.5146_5147del (p.Gln1716GlufsTer?)
c.4597_4598del (p.Gln1533GlufsTer?)
c.4270_4271del (p.Gln1424GlufsTer?)
n.577-3374_577-3373del
c.*3622-3374_*3622-3373del (n.*3622-3374_*3622-3373del)
c.4984_4985del (p.Gln1662GlufsTer?)
c.4108_4109del (p.Gln1370GlufsTer?)
c.3457_3458del (p.Gln1153GlufsTer?)
c.3061_3062del (p.Gln1021GlufsTer?)
c.2803_2804del (p.Gln935GlufsTer?)
c.4081_4082del (p.Gln1361GlufsTer?)
 ClinVar
10g.75029968C>ACA377300074DUSP29,KAT6Bc.5144C>A (p.Thr1715Lys)
c.4595C>A (p.Thr1532Lys)
c.4268C>A (p.Thr1423Lys)
n.577-3374G>T
c.*3622-3374G>T (n.*3622-3374G>T)
c.4982C>A (p.Thr1661Lys)
c.4106C>A (p.Thr1369Lys)
c.3455C>A (p.Thr1152Lys)
c.3059C>A (p.Thr1020Lys)
c.2801C>A (p.Thr934Lys)
c.4079C>A (p.Thr1360Lys)
10g.75029968C>GCA377300075DUSP29,KAT6Bc.5144C>G (p.Thr1715Arg)
c.4595C>G (p.Thr1532Arg)
c.4268C>G (p.Thr1423Arg)
n.577-3374G>C
c.*3622-3374G>C (n.*3622-3374G>C)
c.4982C>G (p.Thr1661Arg)
c.4106C>G (p.Thr1369Arg)
c.3455C>G (p.Thr1152Arg)
c.3059C>G (p.Thr1020Arg)
c.2801C>G (p.Thr934Arg)
c.4079C>G (p.Thr1360Arg)
10g.75029968C>TCA377300076DUSP29,KAT6Bc.5144C>T (p.Thr1715Ile)
c.4595C>T (p.Thr1532Ile)
c.4268C>T (p.Thr1423Ile)
n.577-3374G>A
c.*3622-3374G>A (n.*3622-3374G>A)
c.4982C>T (p.Thr1661Ile)
c.4106C>T (p.Thr1369Ile)
c.3455C>T (p.Thr1152Ile)
c.3059C>T (p.Thr1020Ile)
c.2801C>T (p.Thr934Ile)
c.4079C>T (p.Thr1360Ile)
 gnomAD v4
10g.75029969A=CA1920306895DUSP29,KAT6Bc.5145A= (p.Thr1715=)
c.4596A= (p.Thr1532=)
c.4269A= (p.Thr1423=)
n.577-3375T=
c.*3622-3375T= (n.*3622-3375T=)
c.4983A= (p.Thr1661=)
c.4107A= (p.Thr1369=)
c.3456A= (p.Thr1152=)
c.3060A= (p.Thr1020=)
c.2802A= (p.Thr934=)
c.4080A= (p.Thr1360=)
10g.75029969A>CCA470300597DUSP29,KAT6Bc.5145A>C (p.Thr1715=)
c.4596A>C (p.Thr1532=)
c.4269A>C (p.Thr1423=)
n.577-3375T>G
c.*3622-3375T>G (n.*3622-3375T>G)
c.4983A>C (p.Thr1661=)
c.4107A>C (p.Thr1369=)
c.3456A>C (p.Thr1152=)
c.3060A>C (p.Thr1020=)
c.2802A>C (p.Thr934=)
c.4080A>C (p.Thr1360=)
 gnomAD v4
10g.75029969A>GCA470300599DUSP29,KAT6Bc.5145A>G (p.Thr1715=)
c.4596A>G (p.Thr1532=)
c.4269A>G (p.Thr1423=)
n.577-3375T>C
c.*3622-3375T>C (n.*3622-3375T>C)
c.4983A>G (p.Thr1661=)
c.4107A>G (p.Thr1369=)
c.3456A>G (p.Thr1152=)
c.3060A>G (p.Thr1020=)
c.2802A>G (p.Thr934=)
c.4080A>G (p.Thr1360=)
 dbSNP gnomAD v4
10g.75029969A>TCA470300601DUSP29,KAT6Bc.5145A>T (p.Thr1715=)
c.4596A>T (p.Thr1532=)
c.4269A>T (p.Thr1423=)
n.577-3375T>A
c.*3622-3375T>A (n.*3622-3375T>A)
c.4983A>T (p.Thr1661=)
c.4107A>T (p.Thr1369=)
c.3456A>T (p.Thr1152=)
c.3060A>T (p.Thr1020=)
c.2802A>T (p.Thr934=)
c.4080A>T (p.Thr1360=)
10g.75029970C>ACA377300082DUSP29,KAT6Bc.5146C>A (p.Gln1716Lys)
c.4597C>A (p.Gln1533Lys)
c.4270C>A (p.Gln1424Lys)
n.577-3376G>T
c.*3622-3376G>T (n.*3622-3376G>T)
c.4984C>A (p.Gln1662Lys)
c.4108C>A (p.Gln1370Lys)
c.3457C>A (p.Gln1153Lys)
c.3061C>A (p.Gln1021Lys)
c.2803C>A (p.Gln935Lys)
c.4081C>A (p.Gln1361Lys)
10g.75029970C>GCA377300081DUSP29,KAT6Bc.5146C>G (p.Gln1716Glu)
c.4597C>G (p.Gln1533Glu)
c.4270C>G (p.Gln1424Glu)
n.577-3376G>C
c.*3622-3376G>C (n.*3622-3376G>C)
c.4984C>G (p.Gln1662Glu)
c.4108C>G (p.Gln1370Glu)
c.3457C>G (p.Gln1153Glu)
c.3061C>G (p.Gln1021Glu)
c.2803C>G (p.Gln935Glu)
c.4081C>G (p.Gln1361Glu)
10g.75029970C>TCA377300079DUSP29,KAT6Bc.5146C>T (p.Gln1716Ter)
c.4597C>T (p.Gln1533Ter)
c.4270C>T (p.Gln1424Ter)
n.577-3376G>A
c.*3622-3376G>A (n.*3622-3376G>A)
c.4984C>T (p.Gln1662Ter)
c.4108C>T (p.Gln1370Ter)
c.3457C>T (p.Gln1153Ter)
c.3061C>T (p.Gln1021Ter)
c.2803C>T (p.Gln935Ter)
c.4081C>T (p.Gln1361Ter)
10g.75029971A>CCA377300084DUSP29,KAT6Bc.5147A>C (p.Gln1716Pro)
c.4598A>C (p.Gln1533Pro)
c.4271A>C (p.Gln1424Pro)
n.577-3377T>G
c.*3622-3377T>G (n.*3622-3377T>G)
c.4985A>C (p.Gln1662Pro)
c.4109A>C (p.Gln1370Pro)
c.3458A>C (p.Gln1153Pro)
c.3062A>C (p.Gln1021Pro)
c.2804A>C (p.Gln935Pro)
c.4082A>C (p.Gln1361Pro)
10g.75029971A>GCA377300088DUSP29,KAT6Bc.5147A>G (p.Gln1716Arg)
c.4598A>G (p.Gln1533Arg)
c.4271A>G (p.Gln1424Arg)
n.577-3377T>C
c.*3622-3377T>C (n.*3622-3377T>C)
c.4985A>G (p.Gln1662Arg)
c.4109A>G (p.Gln1370Arg)
c.3458A>G (p.Gln1153Arg)
c.3062A>G (p.Gln1021Arg)
c.2804A>G (p.Gln935Arg)
c.4082A>G (p.Gln1361Arg)
10g.75029971A>TCA377300086DUSP29,KAT6Bc.5147A>T (p.Gln1716Leu)
c.4598A>T (p.Gln1533Leu)
c.4271A>T (p.Gln1424Leu)
n.577-3377T>A
c.*3622-3377T>A (n.*3622-3377T>A)
c.4985A>T (p.Gln1662Leu)
c.4109A>T (p.Gln1370Leu)
c.3458A>T (p.Gln1153Leu)
c.3062A>T (p.Gln1021Leu)
c.2804A>T (p.Gln935Leu)
c.4082A>T (p.Gln1361Leu)
10g.75029972G>ACA470300606DUSP29,KAT6Bc.5148G>A (p.Gln1716=)
c.4599G>A (p.Gln1533=)
c.4272G>A (p.Gln1424=)
n.577-3378C>T
c.*3622-3378C>T (n.*3622-3378C>T)
c.4986G>A (p.Gln1662=)
c.4110G>A (p.Gln1370=)
c.3459G>A (p.Gln1153=)
c.3063G>A (p.Gln1021=)
c.2805G>A (p.Gln935=)
c.4083G>A (p.Gln1361=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.75029972G>CCA5565146DUSP29,KAT6Bc.5148G>C (p.Gln1716His)
c.4599G>C (p.Gln1533His)
c.4272G>C (p.Gln1424His)
n.577-3378C>G
c.*3622-3378C>G (n.*3622-3378C>G)
c.4986G>C (p.Gln1662His)
c.4110G>C (p.Gln1370His)
c.3459G>C (p.Gln1153His)
c.3063G>C (p.Gln1021His)
c.2805G>C (p.Gln935His)
c.4083G>C (p.Gln1361His)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.75029972G=CA1920306896DUSP29,KAT6Bc.5148G= (p.Gln1716=)
c.4599G= (p.Gln1533=)
c.4272G= (p.Gln1424=)
n.577-3378C=
c.*3622-3378C= (n.*3622-3378C=)
c.4986G= (p.Gln1662=)
c.4110G= (p.Gln1370=)
c.3459G= (p.Gln1153=)
c.3063G= (p.Gln1021=)
c.2805G= (p.Gln935=)
c.4083G= (p.Gln1361=)
10g.75029972G>TCA377300090DUSP29,KAT6Bc.5148G>T (p.Gln1716His)
c.4599G>T (p.Gln1533His)
c.4272G>T (p.Gln1424His)
n.577-3378C>A
c.*3622-3378C>A (n.*3622-3378C>A)
c.4986G>T (p.Gln1662His)
c.4110G>T (p.Gln1370His)
c.3459G>T (p.Gln1153His)
c.3063G>T (p.Gln1021His)
c.2805G>T (p.Gln935His)
c.4083G>T (p.Gln1361His)
10g.75029973A=CA1920306897DUSP29,KAT6Bc.5149A= (p.Ser1717=)
c.4600A= (p.Ser1534=)
c.4273A= (p.Ser1425=)
n.577-3379T=
c.*3622-3379T= (n.*3622-3379T=)
c.4987A= (p.Ser1663=)
c.4111A= (p.Ser1371=)
c.3460A= (p.Ser1154=)
c.3064A= (p.Ser1022=)
c.2806A= (p.Ser936=)
c.4084A= (p.Ser1362=)
10g.75029973A>CCA377300092DUSP29,KAT6Bc.5149A>C (p.Ser1717Arg)
c.4600A>C (p.Ser1534Arg)
c.4273A>C (p.Ser1425Arg)
n.577-3379T>G
c.*3622-3379T>G (n.*3622-3379T>G)
c.4987A>C (p.Ser1663Arg)
c.4111A>C (p.Ser1371Arg)
c.3460A>C (p.Ser1154Arg)
c.3064A>C (p.Ser1022Arg)
c.2806A>C (p.Ser936Arg)
c.4084A>C (p.Ser1362Arg)
10g.75029973A>GCA377300094DUSP29,KAT6Bc.5149A>G (p.Ser1717Gly)
c.4600A>G (p.Ser1534Gly)
c.4273A>G (p.Ser1425Gly)
n.577-3379T>C
c.*3622-3379T>C (n.*3622-3379T>C)
c.4987A>G (p.Ser1663Gly)
c.4111A>G (p.Ser1371Gly)
c.3460A>G (p.Ser1154Gly)
c.3064A>G (p.Ser1022Gly)
c.2806A>G (p.Ser936Gly)
c.4084A>G (p.Ser1362Gly)
 dbSNP gnomAD v2 gnomAD v4
10g.75029973A>TCA377300095DUSP29,KAT6Bc.5149A>T (p.Ser1717Cys)
c.4600A>T (p.Ser1534Cys)
c.4273A>T (p.Ser1425Cys)
n.577-3379T>A
c.*3622-3379T>A (n.*3622-3379T>A)
c.4987A>T (p.Ser1663Cys)
c.4111A>T (p.Ser1371Cys)
c.3460A>T (p.Ser1154Cys)
c.3064A>T (p.Ser1022Cys)
c.2806A>T (p.Ser936Cys)
c.4084A>T (p.Ser1362Cys)
10g.75029974G>ACA377300097DUSP29,KAT6Bc.5150G>A (p.Ser1717Asn)
c.4601G>A (p.Ser1534Asn)
c.4274G>A (p.Ser1425Asn)
n.577-3380C>T
c.*3622-3380C>T (n.*3622-3380C>T)
c.4988G>A (p.Ser1663Asn)
c.4112G>A (p.Ser1371Asn)
c.3461G>A (p.Ser1154Asn)
c.3065G>A (p.Ser1022Asn)
c.2807G>A (p.Ser936Asn)
c.4085G>A (p.Ser1362Asn)
10g.75029974G>CCA377300099DUSP29,KAT6Bc.5150G>C (p.Ser1717Thr)
c.4601G>C (p.Ser1534Thr)
c.4274G>C (p.Ser1425Thr)
n.577-3380C>G
c.*3622-3380C>G (n.*3622-3380C>G)
c.4988G>C (p.Ser1663Thr)
c.4112G>C (p.Ser1371Thr)
c.3461G>C (p.Ser1154Thr)
c.3065G>C (p.Ser1022Thr)
c.2807G>C (p.Ser936Thr)
c.4085G>C (p.Ser1362Thr)
10g.75029974G>TCA377300101DUSP29,KAT6Bc.5150G>T (p.Ser1717Ile)
c.4601G>T (p.Ser1534Ile)
c.4274G>T (p.Ser1425Ile)
n.577-3380C>A
c.*3622-3380C>A (n.*3622-3380C>A)
c.4988G>T (p.Ser1663Ile)
c.4112G>T (p.Ser1371Ile)
c.3461G>T (p.Ser1154Ile)
c.3065G>T (p.Ser1022Ile)
c.2807G>T (p.Ser936Ile)
c.4085G>T (p.Ser1362Ile)
10g.75029975C>ACA377300102DUSP29,KAT6Bc.5151C>A (p.Ser1717Arg)
c.4602C>A (p.Ser1534Arg)
c.4275C>A (p.Ser1425Arg)
n.577-3381G>T
c.*3622-3381G>T (n.*3622-3381G>T)
c.4989C>A (p.Ser1663Arg)
c.4113C>A (p.Ser1371Arg)
c.3462C>A (p.Ser1154Arg)
c.3066C>A (p.Ser1022Arg)
c.2808C>A (p.Ser936Arg)
c.4086C>A (p.Ser1362Arg)
10g.75029975C>GCA377300104DUSP29,KAT6Bc.5151C>G (p.Ser1717Arg)
c.4602C>G (p.Ser1534Arg)
c.4275C>G (p.Ser1425Arg)
n.577-3381G>C
c.*3622-3381G>C (n.*3622-3381G>C)
c.4989C>G (p.Ser1663Arg)
c.4113C>G (p.Ser1371Arg)
c.3462C>G (p.Ser1154Arg)
c.3066C>G (p.Ser1022Arg)
c.2808C>G (p.Ser936Arg)
c.4086C>G (p.Ser1362Arg)
10g.75029975C>TCA470300612DUSP29,KAT6Bc.5151C>T (p.Ser1717=)
c.4602C>T (p.Ser1534=)
c.4275C>T (p.Ser1425=)
n.577-3381G>A
c.*3622-3381G>A (n.*3622-3381G>A)
c.4989C>T (p.Ser1663=)
c.4113C>T (p.Ser1371=)
c.3462C>T (p.Ser1154=)
c.3066C>T (p.Ser1022=)
c.2808C>T (p.Ser936=)
c.4086C>T (p.Ser1362=)
10g.75029976A>CCA377300106DUSP29,KAT6Bc.5152A>C (p.Ser1718Arg)
c.4603A>C (p.Ser1535Arg)
c.4276A>C (p.Ser1426Arg)
n.577-3382T>G
c.*3622-3382T>G (n.*3622-3382T>G)
c.4990A>C (p.Ser1664Arg)
c.4114A>C (p.Ser1372Arg)
c.3463A>C (p.Ser1155Arg)
c.3067A>C (p.Ser1023Arg)
c.2809A>C (p.Ser937Arg)
c.4087A>C (p.Ser1363Arg)
10g.75029976A>GCA377300108DUSP29,KAT6Bc.5152A>G (p.Ser1718Gly)
c.4603A>G (p.Ser1535Gly)
c.4276A>G (p.Ser1426Gly)
n.577-3382T>C
c.*3622-3382T>C (n.*3622-3382T>C)
c.4990A>G (p.Ser1664Gly)
c.4114A>G (p.Ser1372Gly)
c.3463A>G (p.Ser1155Gly)
c.3067A>G (p.Ser1023Gly)
c.2809A>G (p.Ser937Gly)
c.4087A>G (p.Ser1363Gly)
10g.75029976A>TCA377300109DUSP29,KAT6Bc.5152A>T (p.Ser1718Cys)
c.4603A>T (p.Ser1535Cys)
c.4276A>T (p.Ser1426Cys)
n.577-3382T>A
c.*3622-3382T>A (n.*3622-3382T>A)
c.4990A>T (p.Ser1664Cys)
c.4114A>T (p.Ser1372Cys)
c.3463A>T (p.Ser1155Cys)
c.3067A>T (p.Ser1023Cys)
c.2809A>T (p.Ser937Cys)
c.4087A>T (p.Ser1363Cys)
10g.75029977G>ACA377300114DUSP29,KAT6Bc.5153G>A (p.Ser1718Asn)
c.4604G>A (p.Ser1535Asn)
c.4277G>A (p.Ser1426Asn)
n.577-3383C>T
c.*3622-3383C>T (n.*3622-3383C>T)
c.4991G>A (p.Ser1664Asn)
c.4115G>A (p.Ser1372Asn)
c.3464G>A (p.Ser1155Asn)
c.3068G>A (p.Ser1023Asn)
c.2810G>A (p.Ser937Asn)
c.4088G>A (p.Ser1363Asn)
10g.75029977G>CCA377300112DUSP29,KAT6Bc.5153G>C (p.Ser1718Thr)
c.4604G>C (p.Ser1535Thr)
c.4277G>C (p.Ser1426Thr)
n.577-3383C>G
c.*3622-3383C>G (n.*3622-3383C>G)
c.4991G>C (p.Ser1664Thr)
c.4115G>C (p.Ser1372Thr)
c.3464G>C (p.Ser1155Thr)
c.3068G>C (p.Ser1023Thr)
c.2810G>C (p.Ser937Thr)
c.4088G>C (p.Ser1363Thr)
10g.75029977G>TCA377300110DUSP29,KAT6Bc.5153G>T (p.Ser1718Ile)
c.4604G>T (p.Ser1535Ile)
c.4277G>T (p.Ser1426Ile)
n.577-3383C>A
c.*3622-3383C>A (n.*3622-3383C>A)
c.4991G>T (p.Ser1664Ile)
c.4115G>T (p.Ser1372Ile)
c.3464G>T (p.Ser1155Ile)
c.3068G>T (p.Ser1023Ile)
c.2810G>T (p.Ser937Ile)
c.4088G>T (p.Ser1363Ile)
10g.75029978C>ACA377300116DUSP29,KAT6Bc.5154C>A (p.Ser1718Arg)
c.4605C>A (p.Ser1535Arg)
c.4278C>A (p.Ser1426Arg)
n.577-3384G>T
c.*3622-3384G>T (n.*3622-3384G>T)
c.4992C>A (p.Ser1664Arg)
c.4116C>A (p.Ser1372Arg)
c.3465C>A (p.Ser1155Arg)
c.3069C>A (p.Ser1023Arg)
c.2811C>A (p.Ser937Arg)
c.4089C>A (p.Ser1363Arg)
10g.75029978C=CA1920306898DUSP29,KAT6Bc.5154C= (p.Ser1718=)
c.4605C= (p.Ser1535=)
c.4278C= (p.Ser1426=)
n.577-3384G=
c.*3622-3384G= (n.*3622-3384G=)
c.4992C= (p.Ser1664=)
c.4116C= (p.Ser1372=)
c.3465C= (p.Ser1155=)
c.3069C= (p.Ser1023=)
c.2811C= (p.Ser937=)
c.4089C= (p.Ser1363=)
10g.75029978C>GCA377300117DUSP29,KAT6Bc.5154C>G (p.Ser1718Arg)
c.4605C>G (p.Ser1535Arg)
c.4278C>G (p.Ser1426Arg)
n.577-3384G>C
c.*3622-3384G>C (n.*3622-3384G>C)
c.4992C>G (p.Ser1664Arg)
c.4116C>G (p.Ser1372Arg)
c.3465C>G (p.Ser1155Arg)
c.3069C>G (p.Ser1023Arg)
c.2811C>G (p.Ser937Arg)
c.4089C>G (p.Ser1363Arg)
10g.75029978C>TCA470300620DUSP29,KAT6Bc.5154C>T (p.Ser1718=)
c.4605C>T (p.Ser1535=)
c.4278C>T (p.Ser1426=)
n.577-3384G>A
c.*3622-3384G>A (n.*3622-3384G>A)
c.4992C>T (p.Ser1664=)
c.4116C>T (p.Ser1372=)
c.3465C>T (p.Ser1155=)
c.3069C>T (p.Ser1023=)
c.2811C>T (p.Ser937=)
c.4089C>T (p.Ser1363=)
 dbSNP gnomAD v2 gnomAD v4
10g.75029979T>ACA377300119DUSP29,KAT6Bc.5155T>A (p.Cys1719Ser)
c.4606T>A (p.Cys1536Ser)
c.4279T>A (p.Cys1427Ser)
n.577-3385A>T
c.*3622-3385A>T (n.*3622-3385A>T)
c.4993T>A (p.Cys1665Ser)
c.4117T>A (p.Cys1373Ser)
c.3466T>A (p.Cys1156Ser)
c.3070T>A (p.Cys1024Ser)
c.2812T>A (p.Cys938Ser)
c.4090T>A (p.Cys1364Ser)
10g.75029979T>CCA377300121DUSP29,KAT6Bc.5155T>C (p.Cys1719Arg)
c.4606T>C (p.Cys1536Arg)
c.4279T>C (p.Cys1427Arg)
n.577-3385A>G
c.*3622-3385A>G (n.*3622-3385A>G)
c.4993T>C (p.Cys1665Arg)
c.4117T>C (p.Cys1373Arg)
c.3466T>C (p.Cys1156Arg)
c.3070T>C (p.Cys1024Arg)
c.2812T>C (p.Cys938Arg)
c.4090T>C (p.Cys1364Arg)
10g.75029979T>GCA377300123DUSP29,KAT6Bc.5155T>G (p.Cys1719Gly)
c.4606T>G (p.Cys1536Gly)
c.4279T>G (p.Cys1427Gly)
n.577-3385A>C
c.*3622-3385A>C (n.*3622-3385A>C)
c.4993T>G (p.Cys1665Gly)
c.4117T>G (p.Cys1373Gly)
c.3466T>G (p.Cys1156Gly)
c.3070T>G (p.Cys1024Gly)
c.2812T>G (p.Cys938Gly)
c.4090T>G (p.Cys1364Gly)
10g.75029980G>ACA377300125DUSP29,KAT6Bc.5156G>A (p.Cys1719Tyr)
c.4607G>A (p.Cys1536Tyr)
c.4280G>A (p.Cys1427Tyr)
n.577-3386C>T
c.*3622-3386C>T (n.*3622-3386C>T)
c.4994G>A (p.Cys1665Tyr)
c.4118G>A (p.Cys1373Tyr)
c.3467G>A (p.Cys1156Tyr)
c.3071G>A (p.Cys1024Tyr)
c.2813G>A (p.Cys938Tyr)
c.4091G>A (p.Cys1364Tyr)
 gnomAD v4
10g.75029980G>CCA377300127DUSP29,KAT6Bc.5156G>C (p.Cys1719Ser)
c.4607G>C (p.Cys1536Ser)
c.4280G>C (p.Cys1427Ser)
n.577-3386C>G
c.*3622-3386C>G (n.*3622-3386C>G)
c.4994G>C (p.Cys1665Ser)
c.4118G>C (p.Cys1373Ser)
c.3467G>C (p.Cys1156Ser)
c.3071G>C (p.Cys1024Ser)
c.2813G>C (p.Cys938Ser)
c.4091G>C (p.Cys1364Ser)
10g.75029980G>TCA377300129DUSP29,KAT6Bc.5156G>T (p.Cys1719Phe)
c.4607G>T (p.Cys1536Phe)
c.4280G>T (p.Cys1427Phe)
n.577-3386C>A
c.*3622-3386C>A (n.*3622-3386C>A)
c.4994G>T (p.Cys1665Phe)
c.4118G>T (p.Cys1373Phe)
c.3467G>T (p.Cys1156Phe)
c.3071G>T (p.Cys1024Phe)
c.2813G>T (p.Cys938Phe)
c.4091G>T (p.Cys1364Phe)
10g.75029981T>ACA377300130DUSP29,KAT6Bc.5157T>A (p.Cys1719Ter)
c.4608T>A (p.Cys1536Ter)
c.4281T>A (p.Cys1427Ter)
n.577-3387A>T
c.*3622-3387A>T (n.*3622-3387A>T)
c.4995T>A (p.Cys1665Ter)
c.4119T>A (p.Cys1373Ter)
c.3468T>A (p.Cys1156Ter)
c.3072T>A (p.Cys1024Ter)
c.2814T>A (p.Cys938Ter)
c.4092T>A (p.Cys1364Ter)
10g.75029981T>CCA470300626DUSP29,KAT6Bc.5157T>C (p.Cys1719=)
c.4608T>C (p.Cys1536=)
c.4281T>C (p.Cys1427=)
n.577-3387A>G
c.*3622-3387A>G (n.*3622-3387A>G)
c.4995T>C (p.Cys1665=)
c.4119T>C (p.Cys1373=)
c.3468T>C (p.Cys1156=)
c.3072T>C (p.Cys1024=)
c.2814T>C (p.Cys938=)
c.4092T>C (p.Cys1364=)
10g.75029981T>GCA377300131DUSP29,KAT6Bc.5157T>G (p.Cys1719Trp)
c.4608T>G (p.Cys1536Trp)
c.4281T>G (p.Cys1427Trp)
n.577-3387A>C
c.*3622-3387A>C (n.*3622-3387A>C)
c.4995T>G (p.Cys1665Trp)
c.4119T>G (p.Cys1373Trp)
c.3468T>G (p.Cys1156Trp)
c.3072T>G (p.Cys1024Trp)
c.2814T>G (p.Cys938Trp)
c.4092T>G (p.Cys1364Trp)
10g.75029982G>ACA377300133DUSP29,KAT6Bc.5158G>A (p.Ala1720Thr)
c.4609G>A (p.Ala1537Thr)
c.4282G>A (p.Ala1428Thr)
n.577-3388C>T
c.*3622-3388C>T (n.*3622-3388C>T)
c.4996G>A (p.Ala1666Thr)
c.4120G>A (p.Ala1374Thr)
c.3469G>A (p.Ala1157Thr)
c.3073G>A (p.Ala1025Thr)
c.2815G>A (p.Ala939Thr)
c.4093G>A (p.Ala1365Thr)
10g.75029982G>CCA377300135DUSP29,KAT6Bc.5158G>C (p.Ala1720Pro)
c.4609G>C (p.Ala1537Pro)
c.4282G>C (p.Ala1428Pro)
n.577-3388C>G
c.*3622-3388C>G (n.*3622-3388C>G)
c.4996G>C (p.Ala1666Pro)
c.4120G>C (p.Ala1374Pro)
c.3469G>C (p.Ala1157Pro)
c.3073G>C (p.Ala1025Pro)
c.2815G>C (p.Ala939Pro)
c.4093G>C (p.Ala1365Pro)
10g.75029982G>TCA377300136DUSP29,KAT6Bc.5158G>T (p.Ala1720Ser)
c.4609G>T (p.Ala1537Ser)
c.4282G>T (p.Ala1428Ser)
n.577-3388C>A
c.*3622-3388C>A (n.*3622-3388C>A)
c.4996G>T (p.Ala1666Ser)
c.4120G>T (p.Ala1374Ser)
c.3469G>T (p.Ala1157Ser)
c.3073G>T (p.Ala1025Ser)
c.2815G>T (p.Ala939Ser)
c.4093G>T (p.Ala1365Ser)
 gnomAD v4
10g.75029983C>ACA377300139DUSP29,KAT6Bc.5159C>A (p.Ala1720Asp)
c.4610C>A (p.Ala1537Asp)
c.4283C>A (p.Ala1428Asp)
n.577-3389G>T
c.*3622-3389G>T (n.*3622-3389G>T)
c.4997C>A (p.Ala1666Asp)
c.4121C>A (p.Ala1374Asp)
c.3470C>A (p.Ala1157Asp)
c.3074C>A (p.Ala1025Asp)
c.2816C>A (p.Ala939Asp)
c.4094C>A (p.Ala1365Asp)
 gnomAD v4
10g.75029983C>GCA377300141DUSP29,KAT6Bc.5159C>G (p.Ala1720Gly)
c.4610C>G (p.Ala1537Gly)
c.4283C>G (p.Ala1428Gly)
n.577-3389G>C
c.*3622-3389G>C (n.*3622-3389G>C)
c.4997C>G (p.Ala1666Gly)
c.4121C>G (p.Ala1374Gly)
c.3470C>G (p.Ala1157Gly)
c.3074C>G (p.Ala1025Gly)
c.2816C>G (p.Ala939Gly)
c.4094C>G (p.Ala1365Gly)
10g.75029983C>TCA377300138DUSP29,KAT6Bc.5159C>T (p.Ala1720Val)
c.4610C>T (p.Ala1537Val)
c.4283C>T (p.Ala1428Val)
n.577-3389G>A
c.*3622-3389G>A (n.*3622-3389G>A)
c.4997C>T (p.Ala1666Val)
c.4121C>T (p.Ala1374Val)
c.3470C>T (p.Ala1157Val)
c.3074C>T (p.Ala1025Val)
c.2816C>T (p.Ala939Val)
c.4094C>T (p.Ala1365Val)
 gnomAD v4
10g.75029984T>ACA470300627DUSP29,KAT6Bc.5160T>A (p.Ala1720=)
c.4611T>A (p.Ala1537=)
c.4284T>A (p.Ala1428=)
n.577-3390A>T
c.*3622-3390A>T (n.*3622-3390A>T)
c.4998T>A (p.Ala1666=)
c.4122T>A (p.Ala1374=)
c.3471T>A (p.Ala1157=)
c.3075T>A (p.Ala1025=)
c.2817T>A (p.Ala939=)
c.4095T>A (p.Ala1365=)
10g.75029984T>CCA470300629DUSP29,KAT6Bc.5160T>C (p.Ala1720=)
c.4611T>C (p.Ala1537=)
c.4284T>C (p.Ala1428=)
n.577-3390A>G
c.*3622-3390A>G (n.*3622-3390A>G)
c.4998T>C (p.Ala1666=)
c.4122T>C (p.Ala1374=)
c.3471T>C (p.Ala1157=)
c.3075T>C (p.Ala1025=)
c.2817T>C (p.Ala939=)
c.4095T>C (p.Ala1365=)
10g.75029984T>GCA470300630DUSP29,KAT6Bc.5160T>G (p.Ala1720=)
c.4611T>G (p.Ala1537=)
c.4284T>G (p.Ala1428=)
n.577-3390A>C
c.*3622-3390A>C (n.*3622-3390A>C)
c.4998T>G (p.Ala1666=)
c.4122T>G (p.Ala1374=)
c.3471T>G (p.Ala1157=)
c.3075T>G (p.Ala1025=)
c.2817T>G (p.Ala939=)
c.4095T>G (p.Ala1365=)
10g.75029985G>ACA377300142DUSP29,KAT6Bc.5161G>A (p.Val1721Ile)
c.4612G>A (p.Val1538Ile)
c.4285G>A (p.Val1429Ile)
n.577-3391C>T
c.*3622-3391C>T (n.*3622-3391C>T)
c.4999G>A (p.Val1667Ile)
c.4123G>A (p.Val1375Ile)
c.3472G>A (p.Val1158Ile)
c.3076G>A (p.Val1026Ile)
c.2818G>A (p.Val940Ile)
c.4096G>A (p.Val1366Ile)
10g.75029985G>CCA377300144DUSP29,KAT6Bc.5161G>C (p.Val1721Leu)
c.4612G>C (p.Val1538Leu)
c.4285G>C (p.Val1429Leu)
n.577-3391C>G
c.*3622-3391C>G (n.*3622-3391C>G)
c.4999G>C (p.Val1667Leu)
c.4123G>C (p.Val1375Leu)
c.3472G>C (p.Val1158Leu)
c.3076G>C (p.Val1026Leu)
c.2818G>C (p.Val940Leu)
c.4096G>C (p.Val1366Leu)
10g.75029985G>TCA377300146DUSP29,KAT6Bc.5161G>T (p.Val1721Phe)
c.4612G>T (p.Val1538Phe)
c.4285G>T (p.Val1429Phe)
n.577-3391C>A
c.*3622-3391C>A (n.*3622-3391C>A)
c.4999G>T (p.Val1667Phe)
c.4123G>T (p.Val1375Phe)
c.3472G>T (p.Val1158Phe)
c.3076G>T (p.Val1026Phe)
c.2818G>T (p.Val940Phe)
c.4096G>T (p.Val1366Phe)
10g.75029985_75029987dupCA2609745626DUSP29,KAT6Bc.5161_5163dup (p.Val1721_Thr1722insVal)
c.4612_4614dup (p.Val1538_Thr1539insVal)
c.4285_4287dup (p.Val1429_Thr1430insVal)
n.577-3393_577-3391dup
c.*3622-3393_*3622-3391dup (n.*3622-3393_*3622-3391dup)
c.4999_5001dup (p.Val1667_Thr1668insVal)
c.4123_4125dup (p.Val1375_Thr1376insVal)
c.3472_3474dup (p.Val1158_Thr1159insVal)
c.3076_3078dup (p.Val1026_Thr1027insVal)
c.2818_2820dup (p.Val940_Thr941insVal)
c.4096_4098dup (p.Val1366_Thr1367insVal)
 gnomAD v4
10g.75029986T>ACA377300148DUSP29,KAT6Bc.5162T>A (p.Val1721Asp)
c.4613T>A (p.Val1538Asp)
c.4286T>A (p.Val1429Asp)
n.577-3392A>T
c.*3622-3392A>T (n.*3622-3392A>T)
c.5000T>A (p.Val1667Asp)
c.4124T>A (p.Val1375Asp)
c.3473T>A (p.Val1158Asp)
c.3077T>A (p.Val1026Asp)
c.2819T>A (p.Val940Asp)
c.4097T>A (p.Val1366Asp)
10g.75029986T>CCA377300149DUSP29,KAT6Bc.5162T>C (p.Val1721Ala)
c.4613T>C (p.Val1538Ala)
c.4286T>C (p.Val1429Ala)
n.577-3392A>G
c.*3622-3392A>G (n.*3622-3392A>G)
c.5000T>C (p.Val1667Ala)
c.4124T>C (p.Val1375Ala)
c.3473T>C (p.Val1158Ala)
c.3077T>C (p.Val1026Ala)
c.2819T>C (p.Val940Ala)
c.4097T>C (p.Val1366Ala)
10g.75029986T>GCA377300151DUSP29,KAT6Bc.5162T>G (p.Val1721Gly)
c.4613T>G (p.Val1538Gly)
c.4286T>G (p.Val1429Gly)
n.577-3392A>C
c.*3622-3392A>C (n.*3622-3392A>C)
c.5000T>G (p.Val1667Gly)
c.4124T>G (p.Val1375Gly)
c.3473T>G (p.Val1158Gly)
c.3077T>G (p.Val1026Gly)
c.2819T>G (p.Val940Gly)
c.4097T>G (p.Val1366Gly)
10g.75029987C>ACA470300632DUSP29,KAT6Bc.5163C>A (p.Val1721=)
c.4614C>A (p.Val1538=)
c.4287C>A (p.Val1429=)
n.577-3393G>T
c.*3622-3393G>T (n.*3622-3393G>T)
c.5001C>A (p.Val1667=)
c.4125C>A (p.Val1375=)
c.3474C>A (p.Val1158=)
c.3078C>A (p.Val1026=)
c.2820C>A (p.Val940=)
c.4098C>A (p.Val1366=)
 gnomAD v4
10g.75029987C>GCA470300633DUSP29,KAT6Bc.5163C>G (p.Val1721=)
c.4614C>G (p.Val1538=)
c.4287C>G (p.Val1429=)
n.577-3393G>C
c.*3622-3393G>C (n.*3622-3393G>C)
c.5001C>G (p.Val1667=)
c.4125C>G (p.Val1375=)
c.3474C>G (p.Val1158=)
c.3078C>G (p.Val1026=)
c.2820C>G (p.Val940=)
c.4098C>G (p.Val1366=)
10g.75029987C>TCA470300634DUSP29,KAT6Bc.5163C>T (p.Val1721=)
c.4614C>T (p.Val1538=)
c.4287C>T (p.Val1429=)
n.577-3393G>A
c.*3622-3393G>A (n.*3622-3393G>A)
c.5001C>T (p.Val1667=)
c.4125C>T (p.Val1375=)
c.3474C>T (p.Val1158=)
c.3078C>T (p.Val1026=)
c.2820C>T (p.Val940=)
c.4098C>T (p.Val1366=)
10g.75029988A=CA1920306899DUSP29,KAT6Bc.5164A= (p.Thr1722=)
c.4615A= (p.Thr1539=)
c.4288A= (p.Thr1430=)
n.577-3394T=
c.*3622-3394T= (n.*3622-3394T=)
c.5002A= (p.Thr1668=)
c.4126A= (p.Thr1376=)
c.3475A= (p.Thr1159=)
c.3079A= (p.Thr1027=)
c.2821A= (p.Thr941=)
c.4099A= (p.Thr1367=)
10g.75029988A>CCA377300153DUSP29,KAT6Bc.5164A>C (p.Thr1722Pro)
c.4615A>C (p.Thr1539Pro)
c.4288A>C (p.Thr1430Pro)
n.577-3394T>G
c.*3622-3394T>G (n.*3622-3394T>G)
c.5002A>C (p.Thr1668Pro)
c.4126A>C (p.Thr1376Pro)
c.3475A>C (p.Thr1159Pro)
c.3079A>C (p.Thr1027Pro)
c.2821A>C (p.Thr941Pro)
c.4099A>C (p.Thr1367Pro)
10g.75029988A>GCA377300154DUSP29,KAT6Bc.5164A>G (p.Thr1722Ala)
c.4615A>G (p.Thr1539Ala)
c.4288A>G (p.Thr1430Ala)
n.577-3394T>C
c.*3622-3394T>C (n.*3622-3394T>C)
c.5002A>G (p.Thr1668Ala)
c.4126A>G (p.Thr1376Ala)
c.3475A>G (p.Thr1159Ala)
c.3079A>G (p.Thr1027Ala)
c.2821A>G (p.Thr941Ala)
c.4099A>G (p.Thr1367Ala)
10g.75029988A>TCA377300156DUSP29,KAT6Bc.5164A>T (p.Thr1722Ser)
c.4615A>T (p.Thr1539Ser)
c.4288A>T (p.Thr1430Ser)
n.577-3394T>A
c.*3622-3394T>A (n.*3622-3394T>A)
c.5002A>T (p.Thr1668Ser)
c.4126A>T (p.Thr1376Ser)
c.3475A>T (p.Thr1159Ser)
c.3079A>T (p.Thr1027Ser)
c.2821A>T (p.Thr941Ser)
c.4099A>T (p.Thr1367Ser)
10g.75029989C>ACA377300158DUSP29,KAT6Bc.5165C>A (p.Thr1722Asn)
c.4616C>A (p.Thr1539Asn)
c.4289C>A (p.Thr1430Asn)
n.577-3395G>T
c.*3622-3395G>T (n.*3622-3395G>T)
c.5003C>A (p.Thr1668Asn)
c.4127C>A (p.Thr1376Asn)
c.3476C>A (p.Thr1159Asn)
c.3080C>A (p.Thr1027Asn)
c.2822C>A (p.Thr941Asn)
c.4100C>A (p.Thr1367Asn)
10g.75029989C=CA1920306900DUSP29,KAT6Bc.5165C= (p.Thr1722=)
c.4616C= (p.Thr1539=)
c.4289C= (p.Thr1430=)
n.577-3395G=
c.*3622-3395G= (n.*3622-3395G=)
c.5003C= (p.Thr1668=)
c.4127C= (p.Thr1376=)
c.3476C= (p.Thr1159=)
c.3080C= (p.Thr1027=)
c.2822C= (p.Thr941=)
c.4100C= (p.Thr1367=)
10g.75029989C>GCA209710394DUSP29,KAT6Bc.5165C>G (p.Thr1722Ser)
c.4616C>G (p.Thr1539Ser)
c.4289C>G (p.Thr1430Ser)
n.577-3395G>C
c.*3622-3395G>C (n.*3622-3395G>C)
c.5003C>G (p.Thr1668Ser)
c.4127C>G (p.Thr1376Ser)
c.3476C>G (p.Thr1159Ser)
c.3080C>G (p.Thr1027Ser)
c.2822C>G (p.Thr941Ser)
c.4100C>G (p.Thr1367Ser)
 dbSNP gnomAD v4
10g.75029989C>TCA377300160DUSP29,KAT6Bc.5165C>T (p.Thr1722Ile)
c.4616C>T (p.Thr1539Ile)
c.4289C>T (p.Thr1430Ile)
n.577-3395G>A
c.*3622-3395G>A (n.*3622-3395G>A)
c.5003C>T (p.Thr1668Ile)
c.4127C>T (p.Thr1376Ile)
c.3476C>T (p.Thr1159Ile)
c.3080C>T (p.Thr1027Ile)
c.2822C>T (p.Thr941Ile)
c.4100C>T (p.Thr1367Ile)
 gnomAD v4
10g.75029991dupCA915945978DUSP29,KAT6Bc.5167dup (p.Gln1723ProfsTer?)
c.4618dup (p.Gln1540ProfsTer?)
c.4291dup (p.Gln1431ProfsTer?)
n.577-3395dup
c.*3622-3395dup (n.*3622-3395dup)
c.5005dup (p.Gln1669ProfsTer?)
c.4129dup (p.Gln1377ProfsTer?)
c.3478dup (p.Gln1160ProfsTer?)
c.3082dup (p.Gln1028ProfsTer?)
c.2824dup (p.Gln942ProfsTer?)
c.4102dup (p.Gln1368ProfsTer?)
 ClinVar dbSNP
10g.75029990C>ACA470300636DUSP29,KAT6Bc.5166C>A (p.Thr1722=)
c.4617C>A (p.Thr1539=)
c.4290C>A (p.Thr1430=)
n.577-3396G>T
c.*3622-3396G>T (n.*3622-3396G>T)
c.5004C>A (p.Thr1668=)
c.4128C>A (p.Thr1376=)
c.3477C>A (p.Thr1159=)
c.3081C>A (p.Thr1027=)
c.2823C>A (p.Thr941=)
c.4101C>A (p.Thr1367=)
 gnomAD v4
10g.75029990C>GCA470300638DUSP29,KAT6Bc.5166C>G (p.Thr1722=)
c.4617C>G (p.Thr1539=)
c.4290C>G (p.Thr1430=)
n.577-3396G>C
c.*3622-3396G>C (n.*3622-3396G>C)
c.5004C>G (p.Thr1668=)
c.4128C>G (p.Thr1376=)
c.3477C>G (p.Thr1159=)
c.3081C>G (p.Thr1027=)
c.2823C>G (p.Thr941=)
c.4101C>G (p.Thr1367=)
10g.75029990C>TCA470300639DUSP29,KAT6Bc.5166C>T (p.Thr1722=)
c.4617C>T (p.Thr1539=)
c.4290C>T (p.Thr1430=)
n.577-3396G>A
c.*3622-3396G>A (n.*3622-3396G>A)
c.5004C>T (p.Thr1668=)
c.4128C>T (p.Thr1376=)
c.3477C>T (p.Thr1159=)
c.3081C>T (p.Thr1027=)
c.2823C>T (p.Thr941=)
c.4101C>T (p.Thr1367=)
10g.75029991C>ACA377300166DUSP29,KAT6Bc.5167C>A (p.Gln1723Lys)
c.4618C>A (p.Gln1540Lys)
c.4291C>A (p.Gln1431Lys)
n.577-3397G>T
c.*3622-3397G>T (n.*3622-3397G>T)
c.5005C>A (p.Gln1669Lys)
c.4129C>A (p.Gln1377Lys)
c.3478C>A (p.Gln1160Lys)
c.3082C>A (p.Gln1028Lys)
c.2824C>A (p.Gln942Lys)
c.4102C>A (p.Gln1368Lys)
10g.75029991C>GCA377300162DUSP29,KAT6Bc.5167C>G (p.Gln1723Glu)
c.4618C>G (p.Gln1540Glu)
c.4291C>G (p.Gln1431Glu)
n.577-3397G>C
c.*3622-3397G>C (n.*3622-3397G>C)
c.5005C>G (p.Gln1669Glu)
c.4129C>G (p.Gln1377Glu)
c.3478C>G (p.Gln1160Glu)
c.3082C>G (p.Gln1028Glu)
c.2824C>G (p.Gln942Glu)
c.4102C>G (p.Gln1368Glu)
10g.75029991C>TCA377300164DUSP29,KAT6Bc.5167C>T (p.Gln1723Ter)
c.4618C>T (p.Gln1540Ter)
c.4291C>T (p.Gln1431Ter)
n.577-3397G>A
c.*3622-3397G>A (n.*3622-3397G>A)
c.5005C>T (p.Gln1669Ter)
c.4129C>T (p.Gln1377Ter)
c.3478C>T (p.Gln1160Ter)
c.3082C>T (p.Gln1028Ter)
c.2824C>T (p.Gln942Ter)
c.4102C>T (p.Gln1368Ter)
10g.75029992A>CCA377300167DUSP29,KAT6Bc.5168A>C (p.Gln1723Pro)
c.4619A>C (p.Gln1540Pro)
c.4292A>C (p.Gln1431Pro)
n.577-3398T>G
c.*3622-3398T>G (n.*3622-3398T>G)
c.5006A>C (p.Gln1669Pro)
c.4130A>C (p.Gln1377Pro)
c.3479A>C (p.Gln1160Pro)
c.3083A>C (p.Gln1028Pro)
c.2825A>C (p.Gln942Pro)
c.4103A>C (p.Gln1368Pro)
10g.75029992A>GCA377300169DUSP29,KAT6Bc.5168A>G (p.Gln1723Arg)
c.4619A>G (p.Gln1540Arg)
c.4292A>G (p.Gln1431Arg)
n.577-3398T>C
c.*3622-3398T>C (n.*3622-3398T>C)
c.5006A>G (p.Gln1669Arg)
c.4130A>G (p.Gln1377Arg)
c.3479A>G (p.Gln1160Arg)
c.3083A>G (p.Gln1028Arg)
c.2825A>G (p.Gln942Arg)
c.4103A>G (p.Gln1368Arg)
10g.75029992A>TCA377300171DUSP29,KAT6Bc.5168A>T (p.Gln1723Leu)
c.4619A>T (p.Gln1540Leu)
c.4292A>T (p.Gln1431Leu)
n.577-3398T>A
c.*3622-3398T>A (n.*3622-3398T>A)
c.5006A>T (p.Gln1669Leu)
c.4130A>T (p.Gln1377Leu)
c.3479A>T (p.Gln1160Leu)
c.3083A>T (p.Gln1028Leu)
c.2825A>T (p.Gln942Leu)
c.4103A>T (p.Gln1368Leu)
10g.75029993G>ACA470300641DUSP29,KAT6Bc.5169G>A (p.Gln1723=)
c.4620G>A (p.Gln1540=)
c.4293G>A (p.Gln1431=)
n.577-3399C>T
c.*3622-3399C>T (n.*3622-3399C>T)
c.5007G>A (p.Gln1669=)
c.4131G>A (p.Gln1377=)
c.3480G>A (p.Gln1160=)
c.3084G>A (p.Gln1028=)
c.2826G>A (p.Gln942=)
c.4104G>A (p.Gln1368=)
 ClinVar
10g.75029993G>CCA377300172DUSP29,KAT6Bc.5169G>C (p.Gln1723His)
c.4620G>C (p.Gln1540His)
c.4293G>C (p.Gln1431His)
n.577-3399C>G
c.*3622-3399C>G (n.*3622-3399C>G)
c.5007G>C (p.Gln1669His)
c.4131G>C (p.Gln1377His)
c.3480G>C (p.Gln1160His)
c.3084G>C (p.Gln1028His)
c.2826G>C (p.Gln942His)
c.4104G>C (p.Gln1368His)
10g.75029993G>TCA377300174DUSP29,KAT6Bc.5169G>T (p.Gln1723His)
c.4620G>T (p.Gln1540His)
c.4293G>T (p.Gln1431His)
n.577-3399C>A
c.*3622-3399C>A (n.*3622-3399C>A)
c.5007G>T (p.Gln1669His)
c.4131G>T (p.Gln1377His)
c.3480G>T (p.Gln1160His)
c.3084G>T (p.Gln1028His)
c.2826G>T (p.Gln942His)
c.4104G>T (p.Gln1368His)
10g.75029994C>ACA377300176DUSP29,KAT6Bc.5170C>A (p.Gln1724Lys)
c.4621C>A (p.Gln1541Lys)
c.4294C>A (p.Gln1432Lys)
n.577-3400G>T
c.*3622-3400G>T (n.*3622-3400G>T)
c.5008C>A (p.Gln1670Lys)
c.4132C>A (p.Gln1378Lys)
c.3481C>A (p.Gln1161Lys)
c.3085C>A (p.Gln1029Lys)
c.2827C>A (p.Gln943Lys)
c.4105C>A (p.Gln1369Lys)
10g.75029994C>GCA377300178DUSP29,KAT6Bc.5170C>G (p.Gln1724Glu)
c.4621C>G (p.Gln1541Glu)
c.4294C>G (p.Gln1432Glu)
n.577-3400G>C
c.*3622-3400G>C (n.*3622-3400G>C)
c.5008C>G (p.Gln1670Glu)
c.4132C>G (p.Gln1378Glu)
c.3481C>G (p.Gln1161Glu)
c.3085C>G (p.Gln1029Glu)
c.2827C>G (p.Gln943Glu)
c.4105C>G (p.Gln1369Glu)
10g.75029994C>TCA377300179DUSP29,KAT6Bc.5170C>T (p.Gln1724Ter)
c.4621C>T (p.Gln1541Ter)
c.4294C>T (p.Gln1432Ter)
n.577-3400G>A
c.*3622-3400G>A (n.*3622-3400G>A)
c.5008C>T (p.Gln1670Ter)
c.4132C>T (p.Gln1378Ter)
c.3481C>T (p.Gln1161Ter)
c.3085C>T (p.Gln1029Ter)
c.2827C>T (p.Gln943Ter)
c.4105C>T (p.Gln1369Ter)
10g.75029995A>CCA377300180DUSP29,KAT6Bc.5171A>C (p.Gln1724Pro)
c.4622A>C (p.Gln1541Pro)
c.4295A>C (p.Gln1432Pro)
n.577-3401T>G
c.*3622-3401T>G (n.*3622-3401T>G)
c.5009A>C (p.Gln1670Pro)
c.4133A>C (p.Gln1378Pro)
c.3482A>C (p.Gln1161Pro)
c.3086A>C (p.Gln1029Pro)
c.2828A>C (p.Gln943Pro)
c.4106A>C (p.Gln1369Pro)
10g.75029995A>GCA377300182DUSP29,KAT6Bc.5171A>G (p.Gln1724Arg)
c.4622A>G (p.Gln1541Arg)
c.4295A>G (p.Gln1432Arg)
n.577-3401T>C
c.*3622-3401T>C (n.*3622-3401T>C)
c.5009A>G (p.Gln1670Arg)
c.4133A>G (p.Gln1378Arg)
c.3482A>G (p.Gln1161Arg)
c.3086A>G (p.Gln1029Arg)
c.2828A>G (p.Gln943Arg)
c.4106A>G (p.Gln1369Arg)
10g.75029995A>TCA377300184DUSP29,KAT6Bc.5171A>T (p.Gln1724Leu)
c.4622A>T (p.Gln1541Leu)
c.4295A>T (p.Gln1432Leu)
n.577-3401T>A
c.*3622-3401T>A (n.*3622-3401T>A)
c.5009A>T (p.Gln1670Leu)
c.4133A>T (p.Gln1378Leu)
c.3482A>T (p.Gln1161Leu)
c.3086A>T (p.Gln1029Leu)
c.2828A>T (p.Gln943Leu)
c.4106A>T (p.Gln1369Leu)
10g.75029996G>ACA470300644DUSP29,KAT6Bc.5172G>A (p.Gln1724=)
c.4623G>A (p.Gln1541=)
c.4296G>A (p.Gln1432=)
n.577-3402C>T
c.*3622-3402C>T (n.*3622-3402C>T)
c.5010G>A (p.Gln1670=)
c.4134G>A (p.Gln1378=)
c.3483G>A (p.Gln1161=)
c.3087G>A (p.Gln1029=)
c.2829G>A (p.Gln943=)
c.4107G>A (p.Gln1369=)
10g.75029996G>CCA377300188DUSP29,KAT6Bc.5172G>C (p.Gln1724His)
c.4623G>C (p.Gln1541His)
c.4296G>C (p.Gln1432His)
n.577-3402C>G
c.*3622-3402C>G (n.*3622-3402C>G)
c.5010G>C (p.Gln1670His)
c.4134G>C (p.Gln1378His)
c.3483G>C (p.Gln1161His)
c.3087G>C (p.Gln1029His)
c.2829G>C (p.Gln943His)
c.4107G>C (p.Gln1369His)
10g.75029996G>TCA377300186DUSP29,KAT6Bc.5172G>T (p.Gln1724His)
c.4623G>T (p.Gln1541His)
c.4296G>T (p.Gln1432His)
n.577-3402C>A
c.*3622-3402C>A (n.*3622-3402C>A)
c.5010G>T (p.Gln1670His)
c.4134G>T (p.Gln1378His)
c.3483G>T (p.Gln1161His)
c.3087G>T (p.Gln1029His)
c.2829G>T (p.Gln943His)
c.4107G>T (p.Gln1369His)
10g.75029997A>CCA377300190DUSP29,KAT6Bc.5173A>C (p.Met1725Leu)
c.4624A>C (p.Met1542Leu)
c.4297A>C (p.Met1433Leu)
n.577-3403T>G
c.*3622-3403T>G (n.*3622-3403T>G)
c.5011A>C (p.Met1671Leu)
c.4135A>C (p.Met1379Leu)
c.3484A>C (p.Met1162Leu)
c.3088A>C (p.Met1030Leu)
c.2830A>C (p.Met944Leu)
c.4108A>C (p.Met1370Leu)
10g.75029997A>GCA377300191DUSP29,KAT6Bc.5173A>G (p.Met1725Val)
c.4624A>G (p.Met1542Val)
c.4297A>G (p.Met1433Val)
n.577-3403T>C
c.*3622-3403T>C (n.*3622-3403T>C)
c.5011A>G (p.Met1671Val)
c.4135A>G (p.Met1379Val)
c.3484A>G (p.Met1162Val)
c.3088A>G (p.Met1030Val)
c.2830A>G (p.Met944Val)
c.4108A>G (p.Met1370Val)
10g.75029997A>TCA377300193DUSP29,KAT6Bc.5173A>T (p.Met1725Leu)
c.4624A>T (p.Met1542Leu)
c.4297A>T (p.Met1433Leu)
n.577-3403T>A
c.*3622-3403T>A (n.*3622-3403T>A)
c.5011A>T (p.Met1671Leu)
c.4135A>T (p.Met1379Leu)
c.3484A>T (p.Met1162Leu)
c.3088A>T (p.Met1030Leu)
c.2830A>T (p.Met944Leu)
c.4108A>T (p.Met1370Leu)
10g.75029998T>ACA377300195DUSP29,KAT6Bc.5174T>A (p.Met1725Lys)
c.4625T>A (p.Met1542Lys)
c.4298T>A (p.Met1433Lys)
n.577-3404A>T
c.*3622-3404A>T (n.*3622-3404A>T)
c.5012T>A (p.Met1671Lys)
c.4136T>A (p.Met1379Lys)
c.3485T>A (p.Met1162Lys)
c.3089T>A (p.Met1030Lys)
c.2831T>A (p.Met944Lys)
c.4109T>A (p.Met1370Lys)
10g.75029998T>CCA377300197DUSP29,KAT6Bc.5174T>C (p.Met1725Thr)
c.4625T>C (p.Met1542Thr)
c.4298T>C (p.Met1433Thr)
n.577-3404A>G
c.*3622-3404A>G (n.*3622-3404A>G)
c.5012T>C (p.Met1671Thr)
c.4136T>C (p.Met1379Thr)
c.3485T>C (p.Met1162Thr)
c.3089T>C (p.Met1030Thr)
c.2831T>C (p.Met944Thr)
c.4109T>C (p.Met1370Thr)
10g.75029998T>GCA377300198DUSP29,KAT6Bc.5174T>G (p.Met1725Arg)
c.4625T>G (p.Met1542Arg)
c.4298T>G (p.Met1433Arg)
n.577-3404A>C
c.*3622-3404A>C (n.*3622-3404A>C)
c.5012T>G (p.Met1671Arg)
c.4136T>G (p.Met1379Arg)
c.3485T>G (p.Met1162Arg)
c.3089T>G (p.Met1030Arg)
c.2831T>G (p.Met944Arg)
c.4109T>G (p.Met1370Arg)
10g.75029999G>ACA5565147DUSP29,KAT6Bc.5175G>A (p.Met1725Ile)
c.4626G>A (p.Met1542Ile)
c.4299G>A (p.Met1433Ile)
n.577-3405C>T
c.*3622-3405C>T (n.*3622-3405C>T)
c.5013G>A (p.Met1671Ile)
c.4137G>A (p.Met1379Ile)
c.3486G>A (p.Met1162Ile)
c.3090G>A (p.Met1030Ile)
c.2832G>A (p.Met944Ile)
c.4110G>A (p.Met1370Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.75029999G>CCA377300202DUSP29,KAT6Bc.5175G>C (p.Met1725Ile)
c.4626G>C (p.Met1542Ile)
c.4299G>C (p.Met1433Ile)
n.577-3405C>G
c.*3622-3405C>G (n.*3622-3405C>G)
c.5013G>C (p.Met1671Ile)
c.4137G>C (p.Met1379Ile)
c.3486G>C (p.Met1162Ile)
c.3090G>C (p.Met1030Ile)
c.2832G>C (p.Met944Ile)
c.4110G>C (p.Met1370Ile)
10g.75029999G=CA1920306901DUSP29,KAT6Bc.5175G= (p.Met1725=)
c.4626G= (p.Met1542=)
c.4299G= (p.Met1433=)
n.577-3405C=
c.*3622-3405C= (n.*3622-3405C=)
c.5013G= (p.Met1671=)
c.4137G= (p.Met1379=)
c.3486G= (p.Met1162=)
c.3090G= (p.Met1030=)
c.2832G= (p.Met944=)
c.4110G= (p.Met1370=)
10g.75029999G>TCA377300200DUSP29,KAT6Bc.5175G>T (p.Met1725Ile)
c.4626G>T (p.Met1542Ile)
c.4299G>T (p.Met1433Ile)
n.577-3405C>A
c.*3622-3405C>A (n.*3622-3405C>A)
c.5013G>T (p.Met1671Ile)
c.4137G>T (p.Met1379Ile)
c.3486G>T (p.Met1162Ile)
c.3090G>T (p.Met1030Ile)
c.2832G>T (p.Met944Ile)
c.4110G>T (p.Met1370Ile)
10g.75030000T>ACA377300204DUSP29,KAT6Bc.5176T>A (p.Ser1726Thr)
c.4627T>A (p.Ser1543Thr)
c.4300T>A (p.Ser1434Thr)
n.577-3406A>T
c.*3622-3406A>T (n.*3622-3406A>T)
c.5014T>A (p.Ser1672Thr)
c.4138T>A (p.Ser1380Thr)
c.3487T>A (p.Ser1163Thr)
c.3091T>A (p.Ser1031Thr)
c.2833T>A (p.Ser945Thr)
c.4111T>A (p.Ser1371Thr)
10g.75030000T>CCA377300206DUSP29,KAT6Bc.5176T>C (p.Ser1726Pro)
c.4627T>C (p.Ser1543Pro)
c.4300T>C (p.Ser1434Pro)
n.577-3406A>G
c.*3622-3406A>G (n.*3622-3406A>G)
c.5014T>C (p.Ser1672Pro)
c.4138T>C (p.Ser1380Pro)
c.3487T>C (p.Ser1163Pro)
c.3091T>C (p.Ser1031Pro)
c.2833T>C (p.Ser945Pro)
c.4111T>C (p.Ser1371Pro)
10g.75030000T>GCA377300207DUSP29,KAT6Bc.5176T>G (p.Ser1726Ala)
c.4627T>G (p.Ser1543Ala)
c.4300T>G (p.Ser1434Ala)
n.577-3406A>C
c.*3622-3406A>C (n.*3622-3406A>C)
c.5014T>G (p.Ser1672Ala)
c.4138T>G (p.Ser1380Ala)
c.3487T>G (p.Ser1163Ala)
c.3091T>G (p.Ser1031Ala)
c.2833T>G (p.Ser945Ala)
c.4111T>G (p.Ser1371Ala)
10g.75030001C>ACA377300210DUSP29,KAT6Bc.5177C>A (p.Ser1726Tyr)
c.4628C>A (p.Ser1543Tyr)
c.4301C>A (p.Ser1434Tyr)
n.577-3407G>T
c.*3622-3407G>T (n.*3622-3407G>T)
c.5015C>A (p.Ser1672Tyr)
c.4139C>A (p.Ser1380Tyr)
c.3488C>A (p.Ser1163Tyr)
c.3092C>A (p.Ser1031Tyr)
c.2834C>A (p.Ser945Tyr)
c.4112C>A (p.Ser1371Tyr)
10g.75030001C>GCA377300211DUSP29,KAT6Bc.5177C>G (p.Ser1726Cys)
c.4628C>G (p.Ser1543Cys)
c.4301C>G (p.Ser1434Cys)
n.577-3407G>C
c.*3622-3407G>C (n.*3622-3407G>C)
c.5015C>G (p.Ser1672Cys)
c.4139C>G (p.Ser1380Cys)
c.3488C>G (p.Ser1163Cys)
c.3092C>G (p.Ser1031Cys)
c.2834C>G (p.Ser945Cys)
c.4112C>G (p.Ser1371Cys)
10g.75030001C>TCA377300212DUSP29,KAT6Bc.5177C>T (p.Ser1726Phe)
c.4628C>T (p.Ser1543Phe)
c.4301C>T (p.Ser1434Phe)
n.577-3407G>A
c.*3622-3407G>A (n.*3622-3407G>A)
c.5015C>T (p.Ser1672Phe)
c.4139C>T (p.Ser1380Phe)
c.3488C>T (p.Ser1163Phe)
c.3092C>T (p.Ser1031Phe)
c.2834C>T (p.Ser945Phe)
c.4112C>T (p.Ser1371Phe)
10g.75030002C>ACA470300649DUSP29,KAT6Bc.5178C>A (p.Ser1726=)
c.4629C>A (p.Ser1543=)
c.4302C>A (p.Ser1434=)
n.577-3408G>T
c.*3622-3408G>T (n.*3622-3408G>T)
c.5016C>A (p.Ser1672=)
c.4140C>A (p.Ser1380=)
c.3489C>A (p.Ser1163=)
c.3093C>A (p.Ser1031=)
c.2835C>A (p.Ser945=)
c.4113C>A (p.Ser1371=)
 gnomAD v4
10g.75030002C=CA1920306902DUSP29,KAT6Bc.5178C= (p.Ser1726=)
c.4629C= (p.Ser1543=)
c.4302C= (p.Ser1434=)
n.577-3408G=
c.*3622-3408G= (n.*3622-3408G=)
c.5016C= (p.Ser1672=)
c.4140C= (p.Ser1380=)
c.3489C= (p.Ser1163=)
c.3093C= (p.Ser1031=)
c.2835C= (p.Ser945=)
c.4113C= (p.Ser1371=)
10g.75030002C>GCA470300651DUSP29,KAT6Bc.5178C>G (p.Ser1726=)
c.4629C>G (p.Ser1543=)
c.4302C>G (p.Ser1434=)
n.577-3408G>C
c.*3622-3408G>C (n.*3622-3408G>C)
c.5016C>G (p.Ser1672=)
c.4140C>G (p.Ser1380=)
c.3489C>G (p.Ser1163=)
c.3093C>G (p.Ser1031=)
c.2835C>G (p.Ser945=)
c.4113C>G (p.Ser1371=)
10g.75030002C>TCA470300650DUSP29,KAT6Bc.5178C>T (p.Ser1726=)
c.4629C>T (p.Ser1543=)
c.4302C>T (p.Ser1434=)
n.577-3408G>A
c.*3622-3408G>A (n.*3622-3408G>A)
c.5016C>T (p.Ser1672=)
c.4140C>T (p.Ser1380=)
c.3489C>T (p.Ser1163=)
c.3093C>T (p.Ser1031=)
c.2835C>T (p.Ser945=)
c.4113C>T (p.Ser1371=)
 dbSNP
10g.75030003A>CCA377300214DUSP29,KAT6Bc.5179A>C (p.Asn1727His)
c.4630A>C (p.Asn1544His)
c.4303A>C (p.Asn1435His)
n.577-3409T>G
c.*3622-3409T>G (n.*3622-3409T>G)
c.5017A>C (p.Asn1673His)
c.4141A>C (p.Asn1381His)
c.3490A>C (p.Asn1164His)
c.3094A>C (p.Asn1032His)
c.2836A>C (p.Asn946His)
c.4114A>C (p.Asn1372His)
10g.75030003A>GCA377300217DUSP29,KAT6Bc.5179A>G (p.Asn1727Asp)
c.4630A>G (p.Asn1544Asp)
c.4303A>G (p.Asn1435Asp)
n.577-3409T>C
c.*3622-3409T>C (n.*3622-3409T>C)
c.5017A>G (p.Asn1673Asp)
c.4141A>G (p.Asn1381Asp)
c.3490A>G (p.Asn1164Asp)
c.3094A>G (p.Asn1032Asp)
c.2836A>G (p.Asn946Asp)
c.4114A>G (p.Asn1372Asp)
10g.75030003A>TCA377300216DUSP29,KAT6Bc.5179A>T (p.Asn1727Tyr)
c.4630A>T (p.Asn1544Tyr)
c.4303A>T (p.Asn1435Tyr)
n.577-3409T>A
c.*3622-3409T>A (n.*3622-3409T>A)
c.5017A>T (p.Asn1673Tyr)
c.4141A>T (p.Asn1381Tyr)
c.3490A>T (p.Asn1164Tyr)
c.3094A>T (p.Asn1032Tyr)
c.2836A>T (p.Asn946Tyr)
c.4114A>T (p.Asn1372Tyr)
10g.75030004A=CA1920306903DUSP29,KAT6Bc.5180A= (p.Asn1727=)
c.4631A= (p.Asn1544=)
c.4304A= (p.Asn1435=)
n.577-3410T=
c.*3622-3410T= (n.*3622-3410T=)
c.5018A= (p.Asn1673=)
c.4142A= (p.Asn1381=)
c.3491A= (p.Asn1164=)
c.3095A= (p.Asn1032=)
c.2837A= (p.Asn946=)
c.4115A= (p.Asn1372=)
10g.75030004A>CCA377300219DUSP29,KAT6Bc.5180A>C (p.Asn1727Thr)
c.4631A>C (p.Asn1544Thr)
c.4304A>C (p.Asn1435Thr)
n.577-3410T>G
c.*3622-3410T>G (n.*3622-3410T>G)
c.5018A>C (p.Asn1673Thr)
c.4142A>C (p.Asn1381Thr)
c.3491A>C (p.Asn1164Thr)
c.3095A>C (p.Asn1032Thr)
c.2837A>C (p.Asn946Thr)
c.4115A>C (p.Asn1372Thr)
10g.75030004A>GCA209710401DUSP29,KAT6Bc.5180A>G (p.Asn1727Ser)
c.4631A>G (p.Asn1544Ser)
c.4304A>G (p.Asn1435Ser)
n.577-3410T>C
c.*3622-3410T>C (n.*3622-3410T>C)
c.5018A>G (p.Asn1673Ser)
c.4142A>G (p.Asn1381Ser)
c.3491A>G (p.Asn1164Ser)
c.3095A>G (p.Asn1032Ser)
c.2837A>G (p.Asn946Ser)
c.4115A>G (p.Asn1372Ser)
 dbSNP gnomAD v3 gnomAD v4
10g.75030004A>TCA377300221DUSP29,KAT6Bc.5180A>T (p.Asn1727Ile)
c.4631A>T (p.Asn1544Ile)
c.4304A>T (p.Asn1435Ile)
n.577-3410T>A
c.*3622-3410T>A (n.*3622-3410T>A)
c.5018A>T (p.Asn1673Ile)
c.4142A>T (p.Asn1381Ile)
c.3491A>T (p.Asn1164Ile)
c.3095A>T (p.Asn1032Ile)
c.2837A>T (p.Asn946Ile)
c.4115A>T (p.Asn1372Ile)
10g.75030005C>ACA377300223DUSP29,KAT6Bc.5181C>A (p.Asn1727Lys)
c.4632C>A (p.Asn1544Lys)
c.4305C>A (p.Asn1435Lys)
n.577-3411G>T
c.*3622-3411G>T (n.*3622-3411G>T)
c.5019C>A (p.Asn1673Lys)
c.4143C>A (p.Asn1381Lys)
c.3492C>A (p.Asn1164Lys)
c.3096C>A (p.Asn1032Lys)
c.2838C>A (p.Asn946Lys)
c.4116C>A (p.Asn1372Lys)
10g.75030005C>GCA377300225DUSP29,KAT6Bc.5181C>G (p.Asn1727Lys)
c.4632C>G (p.Asn1544Lys)
c.4305C>G (p.Asn1435Lys)
n.577-3411G>C
c.*3622-3411G>C (n.*3622-3411G>C)
c.5019C>G (p.Asn1673Lys)
c.4143C>G (p.Asn1381Lys)
c.3492C>G (p.Asn1164Lys)
c.3096C>G (p.Asn1032Lys)
c.2838C>G (p.Asn946Lys)
c.4116C>G (p.Asn1372Lys)
10g.75030005C>TCA470300655DUSP29,KAT6Bc.5181C>T (p.Asn1727=)
c.4632C>T (p.Asn1544=)
c.4305C>T (p.Asn1435=)
n.577-3411G>A
c.*3622-3411G>A (n.*3622-3411G>A)
c.5019C>T (p.Asn1673=)
c.4143C>T (p.Asn1381=)
c.3492C>T (p.Asn1164=)
c.3096C>T (p.Asn1032=)
c.2838C>T (p.Asn946=)
c.4116C>T (p.Asn1372=)
 dbSNP
10g.75030006A>CCA377300227DUSP29,KAT6Bc.5182A>C (p.Ile1728Leu)
c.4633A>C (p.Ile1545Leu)
c.4306A>C (p.Ile1436Leu)
n.577-3412T>G
c.*3622-3412T>G (n.*3622-3412T>G)
c.5020A>C (p.Ile1674Leu)
c.4144A>C (p.Ile1382Leu)
c.3493A>C (p.Ile1165Leu)
c.3097A>C (p.Ile1033Leu)
c.2839A>C (p.Ile947Leu)
c.4117A>C (p.Ile1373Leu)
10g.75030006A>GCA377300229DUSP29,KAT6Bc.5182A>G (p.Ile1728Val)
c.4633A>G (p.Ile1545Val)
c.4306A>G (p.Ile1436Val)
n.577-3412T>C
c.*3622-3412T>C (n.*3622-3412T>C)
c.5020A>G (p.Ile1674Val)
c.4144A>G (p.Ile1382Val)
c.3493A>G (p.Ile1165Val)
c.3097A>G (p.Ile1033Val)
c.2839A>G (p.Ile947Val)
c.4117A>G (p.Ile1373Val)
10g.75030006A>TCA377300231DUSP29,KAT6Bc.5182A>T (p.Ile1728Phe)
c.4633A>T (p.Ile1545Phe)
c.4306A>T (p.Ile1436Phe)
n.577-3412T>A
c.*3622-3412T>A (n.*3622-3412T>A)
c.5020A>T (p.Ile1674Phe)
c.4144A>T (p.Ile1382Phe)
c.3493A>T (p.Ile1165Phe)
c.3097A>T (p.Ile1033Phe)
c.2839A>T (p.Ile947Phe)
c.4117A>T (p.Ile1373Phe)
10g.75030007T>ACA377300232DUSP29,KAT6Bc.5183T>A (p.Ile1728Asn)
c.4634T>A (p.Ile1545Asn)
c.4307T>A (p.Ile1436Asn)
n.577-3413A>T
c.*3622-3413A>T (n.*3622-3413A>T)
c.5021T>A (p.Ile1674Asn)
c.4145T>A (p.Ile1382Asn)
c.3494T>A (p.Ile1165Asn)
c.3098T>A (p.Ile1033Asn)
c.2840T>A (p.Ile947Asn)
c.4118T>A (p.Ile1373Asn)
10g.75030007T>CCA377300234DUSP29,KAT6Bc.5183T>C (p.Ile1728Thr)
c.4634T>C (p.Ile1545Thr)
c.4307T>C (p.Ile1436Thr)
n.577-3413A>G
c.*3622-3413A>G (n.*3622-3413A>G)
c.5021T>C (p.Ile1674Thr)
c.4145T>C (p.Ile1382Thr)
c.3494T>C (p.Ile1165Thr)
c.3098T>C (p.Ile1033Thr)
c.2840T>C (p.Ile947Thr)
c.4118T>C (p.Ile1373Thr)
10g.75030007T>GCA377300236DUSP29,KAT6Bc.5183T>G (p.Ile1728Ser)
c.4634T>G (p.Ile1545Ser)
c.4307T>G (p.Ile1436Ser)
n.577-3413A>C
c.*3622-3413A>C (n.*3622-3413A>C)
c.5021T>G (p.Ile1674Ser)
c.4145T>G (p.Ile1382Ser)
c.3494T>G (p.Ile1165Ser)
c.3098T>G (p.Ile1033Ser)
c.2840T>G (p.Ile947Ser)
c.4118T>G (p.Ile1373Ser)
10g.75030008C>ACA470300659DUSP29,KAT6Bc.5184C>A (p.Ile1728=)
c.4635C>A (p.Ile1545=)
c.4308C>A (p.Ile1436=)
n.577-3414G>T
c.*3622-3414G>T (n.*3622-3414G>T)
c.5022C>A (p.Ile1674=)
c.4146C>A (p.Ile1382=)
c.3495C>A (p.Ile1165=)
c.3099C>A (p.Ile1033=)
c.2841C>A (p.Ile947=)
c.4119C>A (p.Ile1373=)
10g.75030008C>GCA377300239DUSP29,KAT6Bc.5184C>G (p.Ile1728Met)
c.4635C>G (p.Ile1545Met)
c.4308C>G (p.Ile1436Met)
n.577-3414G>C
c.*3622-3414G>C (n.*3622-3414G>C)
c.5022C>G (p.Ile1674Met)
c.4146C>G (p.Ile1382Met)
c.3495C>G (p.Ile1165Met)
c.3099C>G (p.Ile1033Met)
c.2841C>G (p.Ile947Met)
c.4119C>G (p.Ile1373Met)
10g.75030008C>TCA470300660DUSP29,KAT6Bc.5184C>T (p.Ile1728=)
c.4635C>T (p.Ile1545=)
c.4308C>T (p.Ile1436=)
n.577-3414G>A
c.*3622-3414G>A (n.*3622-3414G>A)
c.5022C>T (p.Ile1674=)
c.4146C>T (p.Ile1382=)
c.3495C>T (p.Ile1165=)
c.3099C>T (p.Ile1033=)
c.2841C>T (p.Ile947=)
c.4119C>T (p.Ile1373=)
10g.75030009A>CCA377300242DUSP29,KAT6Bc.5185A>C (p.Ser1729Arg)
c.4636A>C (p.Ser1546Arg)
c.4309A>C (p.Ser1437Arg)
n.577-3415T>G
c.*3622-3415T>G (n.*3622-3415T>G)
c.5023A>C (p.Ser1675Arg)
c.4147A>C (p.Ser1383Arg)
c.3496A>C (p.Ser1166Arg)
c.3100A>C (p.Ser1034Arg)
c.2842A>C (p.Ser948Arg)
c.4120A>C (p.Ser1374Arg)
10g.75030009A>GCA377300247DUSP29,KAT6Bc.5185A>G (p.Ser1729Gly)
c.4636A>G (p.Ser1546Gly)
c.4309A>G (p.Ser1437Gly)
n.577-3415T>C
c.*3622-3415T>C (n.*3622-3415T>C)
c.5023A>G (p.Ser1675Gly)
c.4147A>G (p.Ser1383Gly)
c.3496A>G (p.Ser1166Gly)
c.3100A>G (p.Ser1034Gly)
c.2842A>G (p.Ser948Gly)
c.4120A>G (p.Ser1374Gly)
10g.75030009A>TCA377300244DUSP29,KAT6Bc.5185A>T (p.Ser1729Cys)
c.4636A>T (p.Ser1546Cys)
c.4309A>T (p.Ser1437Cys)
n.577-3415T>A
c.*3622-3415T>A (n.*3622-3415T>A)
c.5023A>T (p.Ser1675Cys)
c.4147A>T (p.Ser1383Cys)
c.3496A>T (p.Ser1166Cys)
c.3100A>T (p.Ser1034Cys)
c.2842A>T (p.Ser948Cys)
c.4120A>T (p.Ser1374Cys)
10g.75030010G>ACA377300250DUSP29,KAT6Bc.5186G>A (p.Ser1729Asn)
c.4637G>A (p.Ser1546Asn)
c.4310G>A (p.Ser1437Asn)
n.577-3416C>T
c.*3622-3416C>T (n.*3622-3416C>T)
c.5024G>A (p.Ser1675Asn)
c.4148G>A (p.Ser1383Asn)
c.3497G>A (p.Ser1166Asn)
c.3101G>A (p.Ser1034Asn)
c.2843G>A (p.Ser948Asn)
c.4121G>A (p.Ser1374Asn)
10g.75030010G>CCA377300252DUSP29,KAT6Bc.5186G>C (p.Ser1729Thr)
c.4637G>C (p.Ser1546Thr)
c.4310G>C (p.Ser1437Thr)
n.577-3416C>G
c.*3622-3416C>G (n.*3622-3416C>G)
c.5024G>C (p.Ser1675Thr)
c.4148G>C (p.Ser1383Thr)
c.3497G>C (p.Ser1166Thr)
c.3101G>C (p.Ser1034Thr)
c.2843G>C (p.Ser948Thr)
c.4121G>C (p.Ser1374Thr)
10g.75030010G>TCA377300254DUSP29,KAT6Bc.5186G>T (p.Ser1729Ile)
c.4637G>T (p.Ser1546Ile)
c.4310G>T (p.Ser1437Ile)
n.577-3416C>A
c.*3622-3416C>A (n.*3622-3416C>A)
c.5024G>T (p.Ser1675Ile)
c.4148G>T (p.Ser1383Ile)
c.3497G>T (p.Ser1166Ile)
c.3101G>T (p.Ser1034Ile)
c.2843G>T (p.Ser948Ile)
c.4121G>T (p.Ser1374Ile)
10g.75030011C>ACA377300257DUSP29,KAT6Bc.5187C>A (p.Ser1729Arg)
c.4638C>A (p.Ser1546Arg)
c.4311C>A (p.Ser1437Arg)
n.577-3417G>T
c.*3622-3417G>T (n.*3622-3417G>T)
c.5025C>A (p.Ser1675Arg)
c.4149C>A (p.Ser1383Arg)
c.3498C>A (p.Ser1166Arg)
c.3102C>A (p.Ser1034Arg)
c.2844C>A (p.Ser948Arg)
c.4122C>A (p.Ser1374Arg)
10g.75030011C=CA1920306904DUSP29,KAT6Bc.5187C= (p.Ser1729=)
c.4638C= (p.Ser1546=)
c.4311C= (p.Ser1437=)
n.577-3417G=
c.*3622-3417G= (n.*3622-3417G=)
c.5025C= (p.Ser1675=)
c.4149C= (p.Ser1383=)
c.3498C= (p.Ser1166=)
c.3102C= (p.Ser1034=)
c.2844C= (p.Ser948=)
c.4122C= (p.Ser1374=)
10g.75030011C>GCA377300259DUSP29,KAT6Bc.5187C>G (p.Ser1729Arg)
c.4638C>G (p.Ser1546Arg)
c.4311C>G (p.Ser1437Arg)
n.577-3417G>C
c.*3622-3417G>C (n.*3622-3417G>C)
c.5025C>G (p.Ser1675Arg)
c.4149C>G (p.Ser1383Arg)
c.3498C>G (p.Ser1166Arg)
c.3102C>G (p.Ser1034Arg)
c.2844C>G (p.Ser948Arg)
c.4122C>G (p.Ser1374Arg)
10g.75030011C>TCA209710412DUSP29,KAT6Bc.5187C>T (p.Ser1729=)
c.4638C>T (p.Ser1546=)
c.4311C>T (p.Ser1437=)
n.577-3417G>A
c.*3622-3417G>A (n.*3622-3417G>A)
c.5025C>T (p.Ser1675=)
c.4149C>T (p.Ser1383=)
c.3498C>T (p.Ser1166=)
c.3102C>T (p.Ser1034=)
c.2844C>T (p.Ser948=)
c.4122C>T (p.Ser1374=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.75030012G>ACA5565148DUSP29,KAT6Bc.5188G>A (p.Gly1730Arg)
c.4639G>A (p.Gly1547Arg)
c.4312G>A (p.Gly1438Arg)
n.577-3418C>T
c.*3622-3418C>T (n.*3622-3418C>T)
c.5026G>A (p.Gly1676Arg)
c.4150G>A (p.Gly1384Arg)
c.3499G>A (p.Gly1167Arg)
c.3103G>A (p.Gly1035Arg)
c.2845G>A (p.Gly949Arg)
c.4123G>A (p.Gly1375Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.75030012G>CCA377300265DUSP29,KAT6Bc.5188G>C (p.Gly1730Arg)
c.4639G>C (p.Gly1547Arg)
c.4312G>C (p.Gly1438Arg)
n.577-3418C>G
c.*3622-3418C>G (n.*3622-3418C>G)
c.5026G>C (p.Gly1676Arg)
c.4150G>C (p.Gly1384Arg)
c.3499G>C (p.Gly1167Arg)
c.3103G>C (p.Gly1035Arg)
c.2845G>C (p.Gly949Arg)
c.4123G>C (p.Gly1375Arg)
10g.75030012G=CA1920306905DUSP29,KAT6Bc.5188G= (p.Gly1730=)
c.4639G= (p.Gly1547=)
c.4312G= (p.Gly1438=)
n.577-3418C=
c.*3622-3418C= (n.*3622-3418C=)
c.5026G= (p.Gly1676=)
c.4150G= (p.Gly1384=)
c.3499G= (p.Gly1167=)
c.3103G= (p.Gly1035=)
c.2845G= (p.Gly949=)
c.4123G= (p.Gly1375=)
10g.75030012G>TCA377300263DUSP29,KAT6Bc.5188G>T (p.Gly1730Trp)
c.4639G>T (p.Gly1547Trp)
c.4312G>T (p.Gly1438Trp)
n.577-3418C>A
c.*3622-3418C>A (n.*3622-3418C>A)
c.5026G>T (p.Gly1676Trp)
c.4150G>T (p.Gly1384Trp)
c.3499G>T (p.Gly1167Trp)
c.3103G>T (p.Gly1035Trp)
c.2845G>T (p.Gly949Trp)
c.4123G>T (p.Gly1375Trp)
10g.75030013G>ACA377300270DUSP29,KAT6Bc.5189G>A (p.Gly1730Glu)
c.4640G>A (p.Gly1547Glu)
c.4313G>A (p.Gly1438Glu)
n.577-3419C>T
c.*3622-3419C>T (n.*3622-3419C>T)
c.5027G>A (p.Gly1676Glu)
c.4151G>A (p.Gly1384Glu)
c.3500G>A (p.Gly1167Glu)
c.3104G>A (p.Gly1035Glu)
c.2846G>A (p.Gly949Glu)
c.4124G>A (p.Gly1375Glu)
10g.75030013G>CCA377300273DUSP29,KAT6Bc.5189G>C (p.Gly1730Ala)
c.4640G>C (p.Gly1547Ala)
c.4313G>C (p.Gly1438Ala)
n.577-3419C>G
c.*3622-3419C>G (n.*3622-3419C>G)
c.5027G>C (p.Gly1676Ala)
c.4151G>C (p.Gly1384Ala)
c.3500G>C (p.Gly1167Ala)
c.3104G>C (p.Gly1035Ala)
c.2846G>C (p.Gly949Ala)
c.4124G>C (p.Gly1375Ala)
10g.75030013G>TCA377300275DUSP29,KAT6Bc.5189G>T (p.Gly1730Val)
c.4640G>T (p.Gly1547Val)
c.4313G>T (p.Gly1438Val)
n.577-3419C>A
c.*3622-3419C>A (n.*3622-3419C>A)
c.5027G>T (p.Gly1676Val)
c.4151G>T (p.Gly1384Val)
c.3500G>T (p.Gly1167Val)
c.3104G>T (p.Gly1035Val)
c.2846G>T (p.Gly949Val)
c.4124G>T (p.Gly1375Val)
10g.75030014G>ACA470300664DUSP29,KAT6Bc.5190G>A (p.Gly1730=)
c.4641G>A (p.Gly1547=)
c.4314G>A (p.Gly1438=)
n.577-3420C>T
c.*3622-3420C>T (n.*3622-3420C>T)
c.5028G>A (p.Gly1676=)
c.4152G>A (p.Gly1384=)
c.3501G>A (p.Gly1167=)
c.3105G>A (p.Gly1035=)
c.2847G>A (p.Gly949=)
c.4125G>A (p.Gly1375=)
10g.75030014G>CCA470300665DUSP29,KAT6Bc.5190G>C (p.Gly1730=)
c.4641G>C (p.Gly1547=)
c.4314G>C (p.Gly1438=)
n.577-3420C>G
c.*3622-3420C>G (n.*3622-3420C>G)
c.5028G>C (p.Gly1676=)
c.4152G>C (p.Gly1384=)
c.3501G>C (p.Gly1167=)
c.3105G>C (p.Gly1035=)
c.2847G>C (p.Gly949=)
c.4125G>C (p.Gly1375=)
10g.75030014G>TCA470300666DUSP29,KAT6Bc.5190G>T (p.Gly1730=)
c.4641G>T (p.Gly1547=)
c.4314G>T (p.Gly1438=)
n.577-3420C>A
c.*3622-3420C>A (n.*3622-3420C>A)
c.5028G>T (p.Gly1676=)
c.4152G>T (p.Gly1384=)
c.3501G>T (p.Gly1167=)
c.3105G>T (p.Gly1035=)
c.2847G>T (p.Gly949=)
c.4125G>T (p.Gly1375=)
10g.75030015A=CA1920306906DUSP29,KAT6Bc.5191A= (p.Ser1731=)
c.4642A= (p.Ser1548=)
c.4315A= (p.Ser1439=)
n.577-3421T=
c.*3622-3421T= (n.*3622-3421T=)
c.5029A= (p.Ser1677=)
c.4153A= (p.Ser1385=)
c.3502A= (p.Ser1168=)
c.3106A= (p.Ser1036=)
c.2848A= (p.Ser950=)
c.4126A= (p.Ser1376=)
10g.75030015A>CCA377300277DUSP29,KAT6Bc.5191A>C (p.Ser1731Arg)
c.4642A>C (p.Ser1548Arg)
c.4315A>C (p.Ser1439Arg)
n.577-3421T>G
c.*3622-3421T>G (n.*3622-3421T>G)
c.5029A>C (p.Ser1677Arg)
c.4153A>C (p.Ser1385Arg)
c.3502A>C (p.Ser1168Arg)
c.3106A>C (p.Ser1036Arg)
c.2848A>C (p.Ser950Arg)
c.4126A>C (p.Ser1376Arg)
10g.75030015A>GCA377300279DUSP29,KAT6Bc.5191A>G (p.Ser1731Gly)
c.4642A>G (p.Ser1548Gly)
c.4315A>G (p.Ser1439Gly)
n.577-3421T>C
c.*3622-3421T>C (n.*3622-3421T>C)
c.5029A>G (p.Ser1677Gly)
c.4153A>G (p.Ser1385Gly)
c.3502A>G (p.Ser1168Gly)
c.3106A>G (p.Ser1036Gly)
c.2848A>G (p.Ser950Gly)
c.4126A>G (p.Ser1376Gly)
10g.75030015A>TCA377300281DUSP29,KAT6Bc.5191A>T (p.Ser1731Cys)
c.4642A>T (p.Ser1548Cys)
c.4315A>T (p.Ser1439Cys)
n.577-3421T>A
c.*3622-3421T>A (n.*3622-3421T>A)
c.5029A>T (p.Ser1677Cys)
c.4153A>T (p.Ser1385Cys)
c.3502A>T (p.Ser1168Cys)
c.3106A>T (p.Ser1036Cys)
c.2848A>T (p.Ser950Cys)
c.4126A>T (p.Ser1376Cys)
 dbSNP gnomAD v4
10g.75030016G>ACA377300284DUSP29,KAT6Bc.5192G>A (p.Ser1731Asn)
c.4643G>A (p.Ser1548Asn)
c.4316G>A (p.Ser1439Asn)
n.577-3422C>T
c.*3622-3422C>T (n.*3622-3422C>T)
c.5030G>A (p.Ser1677Asn)
c.4154G>A (p.Ser1385Asn)
c.3503G>A (p.Ser1168Asn)
c.3107G>A (p.Ser1036Asn)
c.2849G>A (p.Ser950Asn)
c.4127G>A (p.Ser1376Asn)
 COSMIC
10g.75030016G>CCA5565149DUSP29,KAT6Bc.5192G>C (p.Ser1731Thr)
c.4643G>C (p.Ser1548Thr)
c.4316G>C (p.Ser1439Thr)
n.577-3422C>G
c.*3622-3422C>G (n.*3622-3422C>G)
c.5030G>C (p.Ser1677Thr)
c.4154G>C (p.Ser1385Thr)
c.3503G>C (p.Ser1168Thr)
c.3107G>C (p.Ser1036Thr)
c.2849G>C (p.Ser950Thr)
c.4127G>C (p.Ser1376Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.75030016G=CA1920306907DUSP29,KAT6Bc.5192G= (p.Ser1731=)
c.4643G= (p.Ser1548=)
c.4316G= (p.Ser1439=)
n.577-3422C=
c.*3622-3422C= (n.*3622-3422C=)
c.5030G= (p.Ser1677=)
c.4154G= (p.Ser1385=)
c.3503G= (p.Ser1168=)
c.3107G= (p.Ser1036=)
c.2849G= (p.Ser950=)
c.4127G= (p.Ser1376=)
10g.75030016G>TCA377300287DUSP29,KAT6Bc.5192G>T (p.Ser1731Ile)
c.4643G>T (p.Ser1548Ile)
c.4316G>T (p.Ser1439Ile)
n.577-3422C>A
c.*3622-3422C>A (n.*3622-3422C>A)
c.5030G>T (p.Ser1677Ile)
c.4154G>T (p.Ser1385Ile)
c.3503G>T (p.Ser1168Ile)
c.3107G>T (p.Ser1036Ile)
c.2849G>T (p.Ser950Ile)
c.4127G>T (p.Ser1376Ile)
10g.75030025_75030034dupCA232614DUSP29,KAT6Bc.5201_5210dup (p.Gln1737HisfsTer?)
c.4652_4661dup (p.Gln1554HisfsTer?)
c.4325_4334dup (p.Gln1445HisfsTer?)
n.577-3431_577-3422dup
c.*3622-3431_*3622-3422dup (n.*3622-3431_*3622-3422dup)
c.5039_5048dup (p.Gln1683HisfsTer?)
c.4163_4172dup (p.Gln1391HisfsTer?)
c.3512_3521dup (p.Gln1174HisfsTer?)
c.3116_3125dup (p.Gln1042HisfsTer?)
c.2858_2867dup (p.Gln956HisfsTer?)
c.4136_4145dup (p.Gln1382HisfsTer?)
 ClinVar dbSNP
10g.75030025_75030034delCA2609745628DUSP29,KAT6Bc.5201_5210del (p.Met1734LysfsTer?)
c.4652_4661del (p.Met1551LysfsTer?)
c.4325_4334del (p.Met1442LysfsTer?)
n.577-3431_577-3422del
c.*3622-3431_*3622-3422del (n.*3622-3431_*3622-3422del)
c.5039_5048del (p.Met1680LysfsTer?)
c.4163_4172del (p.Met1388LysfsTer?)
c.3512_3521del (p.Met1171LysfsTer?)
c.3116_3125del (p.Met1039LysfsTer?)
c.2858_2867del (p.Met953LysfsTer?)
c.4136_4145del (p.Met1379LysfsTer?)
 gnomAD v4
10g.75030017C>ACA377300290DUSP29,KAT6Bc.5193C>A (p.Ser1731Arg)
c.4644C>A (p.Ser1548Arg)
c.4317C>A (p.Ser1439Arg)
n.577-3423G>T
c.*3622-3423G>T (n.*3622-3423G>T)
c.5031C>A (p.Ser1677Arg)
c.4155C>A (p.Ser1385Arg)
c.3504C>A (p.Ser1168Arg)
c.3108C>A (p.Ser1036Arg)
c.2850C>A (p.Ser950Arg)
c.4128C>A (p.Ser1376Arg)
10g.75030017C>GCA377300292DUSP29,KAT6Bc.5193C>G (p.Ser1731Arg)
c.4644C>G (p.Ser1548Arg)
c.4317C>G (p.Ser1439Arg)
n.577-3423G>C
c.*3622-3423G>C (n.*3622-3423G>C)
c.5031C>G (p.Ser1677Arg)
c.4155C>G (p.Ser1385Arg)
c.3504C>G (p.Ser1168Arg)
c.3108C>G (p.Ser1036Arg)
c.2850C>G (p.Ser950Arg)
c.4128C>G (p.Ser1376Arg)
10g.75030017C>TCA470300673DUSP29,KAT6Bc.5193C>T (p.Ser1731=)
c.4644C>T (p.Ser1548=)
c.4317C>T (p.Ser1439=)
n.577-3423G>A
c.*3622-3423G>A (n.*3622-3423G>A)
c.5031C>T (p.Ser1677=)
c.4155C>T (p.Ser1385=)
c.3504C>T (p.Ser1168=)
c.3108C>T (p.Ser1036=)
c.2850C>T (p.Ser950=)
c.4128C>T (p.Ser1376=)
10g.75030024_75030065dupCA2580082035DUSP29,KAT6Bc.5200_5241dup (p.Ser1747_Val1748insMetLeuGlnGlnThrSerIleSerSerProProThrCysSer)
c.4651_4692dup (p.Ser1564_Val1565insMetLeuGlnGlnThrSerIleSerSerProProThrCysSer)
c.4324_4365dup (p.Ser1455_Val1456insMetLeuGlnGlnThrSerIleSerSerProProThrCysSer)
n.577-3464_577-3423dup
c.*3622-3464_*3622-3423dup (n.*3622-3464_*3622-3423dup)
c.5038_5079dup (p.Ser1693_Val1694insMetLeuGlnGlnThrSerIleSerSerProProThrCysSer)
c.4162_4203dup (p.Ser1401_Val1402insMetLeuGlnGlnThrSerIleSerSerProProThrCysSer)
c.3511_3552dup (p.Ser1184_Val1185insMetLeuGlnGlnThrSerIleSerSerProProThrCysSer)
c.3115_3156dup (p.Ser1052_Val1053insMetLeuGlnGlnThrSerIleSerSerProProThrCysSer)
c.2857_2898dup (p.Ser966_Val967insMetLeuGlnGlnThrSerIleSerSerProProThrCysSer)
c.4135_4176dup (p.Ser1392_Val1393insMetLeuGlnGlnThrSerIleSerSerProProThrCysSer)
 ClinVar
10g.75030018T>ACA377300294DUSP29,KAT6Bc.5194T>A (p.Cys1732Ser)
c.4645T>A (p.Cys1549Ser)
c.4318T>A (p.Cys1440Ser)
n.577-3424A>T
c.*3622-3424A>T (n.*3622-3424A>T)
c.5032T>A (p.Cys1678Ser)
c.4156T>A (p.Cys1386Ser)
c.3505T>A (p.Cys1169Ser)
c.3109T>A (p.Cys1037Ser)
c.2851T>A (p.Cys951Ser)
c.4129T>A (p.Cys1377Ser)
10g.75030018T>CCA377300295DUSP29,KAT6Bc.5194T>C (p.Cys1732Arg)
c.4645T>C (p.Cys1549Arg)
c.4318T>C (p.Cys1440Arg)
n.577-3424A>G
c.*3622-3424A>G (n.*3622-3424A>G)
c.5032T>C (p.Cys1678Arg)
c.4156T>C (p.Cys1386Arg)
c.3505T>C (p.Cys1169Arg)
c.3109T>C (p.Cys1037Arg)
c.2851T>C (p.Cys951Arg)
c.4129T>C (p.Cys1377Arg)
 gnomAD v4
10g.75030018T>GCA377300296DUSP29,KAT6Bc.5194T>G (p.Cys1732Gly)
c.4645T>G (p.Cys1549Gly)
c.4318T>G (p.Cys1440Gly)
n.577-3424A>C
c.*3622-3424A>C (n.*3622-3424A>C)
c.5032T>G (p.Cys1678Gly)
c.4156T>G (p.Cys1386Gly)
c.3505T>G (p.Cys1169Gly)
c.3109T>G (p.Cys1037Gly)
c.2851T>G (p.Cys951Gly)
c.4129T>G (p.Cys1377Gly)
10g.75030019G>ACA377300299DUSP29,KAT6Bc.5195G>A (p.Cys1732Tyr)
c.4646G>A (p.Cys1549Tyr)
c.4319G>A (p.Cys1440Tyr)
n.577-3425C>T
c.*3622-3425C>T (n.*3622-3425C>T)
c.5033G>A (p.Cys1678Tyr)
c.4157G>A (p.Cys1386Tyr)
c.3506G>A (p.Cys1169Tyr)
c.3110G>A (p.Cys1037Tyr)
c.2852G>A (p.Cys951Tyr)
c.4130G>A (p.Cys1377Tyr)
 gnomAD v4
10g.75030019G>CCA377300301DUSP29,KAT6Bc.5195G>C (p.Cys1732Ser)
c.4646G>C (p.Cys1549Ser)
c.4319G>C (p.Cys1440Ser)
n.577-3425C>G
c.*3622-3425C>G (n.*3622-3425C>G)
c.5033G>C (p.Cys1678Ser)
c.4157G>C (p.Cys1386Ser)
c.3506G>C (p.Cys1169Ser)
c.3110G>C (p.Cys1037Ser)
c.2852G>C (p.Cys951Ser)
c.4130G>C (p.Cys1377Ser)
10g.75030019G>TCA377300302DUSP29,KAT6Bc.5195G>T (p.Cys1732Phe)
c.4646G>T (p.Cys1549Phe)
c.4319G>T (p.Cys1440Phe)
n.577-3425C>A
c.*3622-3425C>A (n.*3622-3425C>A)
c.5033G>T (p.Cys1678Phe)
c.4157G>T (p.Cys1386Phe)
c.3506G>T (p.Cys1169Phe)
c.3110G>T (p.Cys1037Phe)
c.2852G>T (p.Cys951Phe)
c.4130G>T (p.Cys1377Phe)
10g.75030020C>ACA377300304DUSP29,KAT6Bc.5196C>A (p.Cys1732Ter)
c.4647C>A (p.Cys1549Ter)
c.4320C>A (p.Cys1440Ter)
n.577-3426G>T
c.*3622-3426G>T (n.*3622-3426G>T)
c.5034C>A (p.Cys1678Ter)
c.4158C>A (p.Cys1386Ter)
c.3507C>A (p.Cys1169Ter)
c.3111C>A (p.Cys1037Ter)
c.2853C>A (p.Cys951Ter)
c.4131C>A (p.Cys1377Ter)
10g.75030020C>GCA377300306DUSP29,KAT6Bc.5196C>G (p.Cys1732Trp)
c.4647C>G (p.Cys1549Trp)
c.4320C>G (p.Cys1440Trp)
n.577-3426G>C
c.*3622-3426G>C (n.*3622-3426G>C)
c.5034C>G (p.Cys1678Trp)
c.4158C>G (p.Cys1386Trp)
c.3507C>G (p.Cys1169Trp)
c.3111C>G (p.Cys1037Trp)
c.2853C>G (p.Cys951Trp)
c.4131C>G (p.Cys1377Trp)
10g.75030020C>TCA470300674DUSP29,KAT6Bc.5196C>T (p.Cys1732=)
c.4647C>T (p.Cys1549=)
c.4320C>T (p.Cys1440=)
n.577-3426G>A
c.*3622-3426G>A (n.*3622-3426G>A)
c.5034C>T (p.Cys1678=)
c.4158C>T (p.Cys1386=)
c.3507C>T (p.Cys1169=)
c.3111C>T (p.Cys1037=)
c.2853C>T (p.Cys951=)
c.4131C>T (p.Cys1377=)
10g.75030021A>CCA377300312DUSP29,KAT6Bc.5197A>C (p.Ser1733Arg)
c.4648A>C (p.Ser1550Arg)
c.4321A>C (p.Ser1441Arg)
n.577-3427T>G
c.*3622-3427T>G (n.*3622-3427T>G)
c.5035A>C (p.Ser1679Arg)
c.4159A>C (p.Ser1387Arg)
c.3508A>C (p.Ser1170Arg)
c.3112A>C (p.Ser1038Arg)
c.2854A>C (p.Ser952Arg)
c.4132A>C (p.Ser1378Arg)
10g.75030021A>GCA377300310DUSP29,KAT6Bc.5197A>G (p.Ser1733Gly)
c.4648A>G (p.Ser1550Gly)
c.4321A>G (p.Ser1441Gly)
n.577-3427T>C
c.*3622-3427T>C (n.*3622-3427T>C)
c.5035A>G (p.Ser1679Gly)
c.4159A>G (p.Ser1387Gly)
c.3508A>G (p.Ser1170Gly)
c.3112A>G (p.Ser1038Gly)
c.2854A>G (p.Ser952Gly)
c.4132A>G (p.Ser1378Gly)
10g.75030021A>TCA377300309DUSP29,KAT6Bc.5197A>T (p.Ser1733Cys)
c.4648A>T (p.Ser1550Cys)
c.4321A>T (p.Ser1441Cys)
n.577-3427T>A
c.*3622-3427T>A (n.*3622-3427T>A)
c.5035A>T (p.Ser1679Cys)
c.4159A>T (p.Ser1387Cys)
c.3508A>T (p.Ser1170Cys)
c.3112A>T (p.Ser1038Cys)
c.2854A>T (p.Ser952Cys)
c.4132A>T (p.Ser1378Cys)
10g.75030022G>ACA377300314DUSP29,KAT6Bc.5198G>A (p.Ser1733Asn)
c.4649G>A (p.Ser1550Asn)
c.4322G>A (p.Ser1441Asn)
n.577-3428C>T
c.*3622-3428C>T (n.*3622-3428C>T)
c.5036G>A (p.Ser1679Asn)
c.4160G>A (p.Ser1387Asn)
c.3509G>A (p.Ser1170Asn)
c.3113G>A (p.Ser1038Asn)
c.2855G>A (p.Ser952Asn)
c.4133G>A (p.Ser1378Asn)
10g.75030022G>CCA377300317DUSP29,KAT6Bc.5198G>C (p.Ser1733Thr)
c.4649G>C (p.Ser1550Thr)
c.4322G>C (p.Ser1441Thr)
n.577-3428C>G
c.*3622-3428C>G (n.*3622-3428C>G)
c.5036G>C (p.Ser1679Thr)
c.4160G>C (p.Ser1387Thr)
c.3509G>C (p.Ser1170Thr)
c.3113G>C (p.Ser1038Thr)
c.2855G>C (p.Ser952Thr)
c.4133G>C (p.Ser1378Thr)
10g.75030022G>TCA377300315DUSP29,KAT6Bc.5198G>T (p.Ser1733Ile)
c.4649G>T (p.Ser1550Ile)
c.4322G>T (p.Ser1441Ile)
n.577-3428C>A
c.*3622-3428C>A (n.*3622-3428C>A)
c.5036G>T (p.Ser1679Ile)
c.4160G>T (p.Ser1387Ile)
c.3509G>T (p.Ser1170Ile)
c.3113G>T (p.Ser1038Ile)
c.2855G>T (p.Ser952Ile)
c.4133G>T (p.Ser1378Ile)
10g.75030023C>ACA377300319DUSP29,KAT6Bc.5199C>A (p.Ser1733Arg)
c.4650C>A (p.Ser1550Arg)
c.4323C>A (p.Ser1441Arg)
n.577-3429G>T
c.*3622-3429G>T (n.*3622-3429G>T)
c.5037C>A (p.Ser1679Arg)
c.4161C>A (p.Ser1387Arg)
c.3510C>A (p.Ser1170Arg)
c.3114C>A (p.Ser1038Arg)
c.2856C>A (p.Ser952Arg)
c.4134C>A (p.Ser1378Arg)
10g.75030023C>GCA377300321DUSP29,KAT6Bc.5199C>G (p.Ser1733Arg)
c.4650C>G (p.Ser1550Arg)
c.4323C>G (p.Ser1441Arg)
n.577-3429G>C
c.*3622-3429G>C (n.*3622-3429G>C)
c.5037C>G (p.Ser1679Arg)
c.4161C>G (p.Ser1387Arg)
c.3510C>G (p.Ser1170Arg)
c.3114C>G (p.Ser1038Arg)
c.2856C>G (p.Ser952Arg)
c.4134C>G (p.Ser1378Arg)
10g.75030023C>TCA470300676DUSP29,KAT6Bc.5199C>T (p.Ser1733=)
c.4650C>T (p.Ser1550=)
c.4323C>T (p.Ser1441=)
n.577-3429G>A
c.*3622-3429G>A (n.*3622-3429G>A)
c.5037C>T (p.Ser1679=)
c.4161C>T (p.Ser1387=)
c.3510C>T (p.Ser1170=)
c.3114C>T (p.Ser1038=)
c.2856C>T (p.Ser952=)
c.4134C>T (p.Ser1378=)
10g.75030024A=CA1920306908DUSP29,KAT6Bc.5200A= (p.Met1734=)
c.4651A= (p.Met1551=)
c.4324A= (p.Met1442=)
n.577-3430T=
c.*3622-3430T= (n.*3622-3430T=)
c.5038A= (p.Met1680=)
c.4162A= (p.Met1388=)
c.3511A= (p.Met1171=)
c.3115A= (p.Met1039=)
c.2857A= (p.Met953=)
c.4135A= (p.Met1379=)
10g.75030024A>CCA377300324DUSP29,KAT6Bc.5200A>C (p.Met1734Leu)
c.4651A>C (p.Met1551Leu)
c.4324A>C (p.Met1442Leu)
n.577-3430T>G
c.*3622-3430T>G (n.*3622-3430T>G)
c.5038A>C (p.Met1680Leu)
c.4162A>C (p.Met1388Leu)
c.3511A>C (p.Met1171Leu)
c.3115A>C (p.Met1039Leu)
c.2857A>C (p.Met953Leu)
c.4135A>C (p.Met1379Leu)
10g.75030024A>GCA5565150DUSP29,KAT6Bc.5200A>G (p.Met1734Val)
c.4651A>G (p.Met1551Val)
c.4324A>G (p.Met1442Val)
n.577-3430T>C
c.*3622-3430T>C (n.*3622-3430T>C)
c.5038A>G (p.Met1680Val)
c.4162A>G (p.Met1388Val)
c.3511A>G (p.Met1171Val)
c.3115A>G (p.Met1039Val)
c.2857A>G (p.Met953Val)
c.4135A>G (p.Met1379Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.75030024A>TCA377300326DUSP29,KAT6Bc.5200A>T (p.Met1734Leu)
c.4651A>T (p.Met1551Leu)
c.4324A>T (p.Met1442Leu)
n.577-3430T>A
c.*3622-3430T>A (n.*3622-3430T>A)
c.5038A>T (p.Met1680Leu)
c.4162A>T (p.Met1388Leu)
c.3511A>T (p.Met1171Leu)
c.3115A>T (p.Met1039Leu)
c.2857A>T (p.Met953Leu)
c.4135A>T (p.Met1379Leu)
10g.75030025T>ACA377300329DUSP29,KAT6Bc.5201T>A (p.Met1734Lys)
c.4652T>A (p.Met1551Lys)
c.4325T>A (p.Met1442Lys)
n.577-3431A>T
c.*3622-3431A>T (n.*3622-3431A>T)
c.5039T>A (p.Met1680Lys)
c.4163T>A (p.Met1388Lys)
c.3512T>A (p.Met1171Lys)
c.3116T>A (p.Met1039Lys)
c.2858T>A (p.Met953Lys)
c.4136T>A (p.Met1379Lys)
10g.75030025T>CCA377300328DUSP29,KAT6Bc.5201T>C (p.Met1734Thr)
c.4652T>C (p.Met1551Thr)
c.4325T>C (p.Met1442Thr)
n.577-3431A>G
c.*3622-3431A>G (n.*3622-3431A>G)
c.5039T>C (p.Met1680Thr)
c.4163T>C (p.Met1388Thr)
c.3512T>C (p.Met1171Thr)
c.3116T>C (p.Met1039Thr)
c.2858T>C (p.Met953Thr)
c.4136T>C (p.Met1379Thr)
10g.75030025T>GCA377300331DUSP29,KAT6Bc.5201T>G (p.Met1734Arg)
c.4652T>G (p.Met1551Arg)
c.4325T>G (p.Met1442Arg)
n.577-3431A>C
c.*3622-3431A>C (n.*3622-3431A>C)
c.5039T>G (p.Met1680Arg)
c.4163T>G (p.Met1388Arg)
c.3512T>G (p.Met1171Arg)
c.3116T>G (p.Met1039Arg)
c.2858T>G (p.Met953Arg)
c.4136T>G (p.Met1379Arg)
10g.75030026G>ACA209710429DUSP29,KAT6Bc.5202G>A (p.Met1734Ile)
c.4653G>A (p.Met1551Ile)
c.4326G>A (p.Met1442Ile)
n.577-3432C>T
c.*3622-3432C>T (n.*3622-3432C>T)
c.5040G>A (p.Met1680Ile)
c.4164G>A (p.Met1388Ile)
c.3513G>A (p.Met1171Ile)
c.3117G>A (p.Met1039Ile)
c.2859G>A (p.Met953Ile)
c.4137G>A (p.Met1379Ile)
 dbSNP
10g.75030026G>CCA377300337DUSP29,KAT6Bc.5202G>C (p.Met1734Ile)
c.4653G>C (p.Met1551Ile)
c.4326G>C (p.Met1442Ile)
n.577-3432C>G
c.*3622-3432C>G (n.*3622-3432C>G)
c.5040G>C (p.Met1680Ile)
c.4164G>C (p.Met1388Ile)
c.3513G>C (p.Met1171Ile)
c.3117G>C (p.Met1039Ile)
c.2859G>C (p.Met953Ile)
c.4137G>C (p.Met1379Ile)
10g.75030026G=CA1920306909DUSP29,KAT6Bc.5202G= (p.Met1734=)
c.4653G= (p.Met1551=)
c.4326G= (p.Met1442=)
n.577-3432C=
c.*3622-3432C= (n.*3622-3432C=)
c.5040G= (p.Met1680=)
c.4164G= (p.Met1388=)
c.3513G= (p.Met1171=)
c.3117G= (p.Met1039=)
c.2859G= (p.Met953=)
c.4137G= (p.Met1379=)
10g.75030026G>TCA377300335DUSP29,KAT6Bc.5202G>T (p.Met1734Ile)
c.4653G>T (p.Met1551Ile)
c.4326G>T (p.Met1442Ile)
n.577-3432C>A
c.*3622-3432C>A (n.*3622-3432C>A)
c.5040G>T (p.Met1680Ile)
c.4164G>T (p.Met1388Ile)
c.3513G>T (p.Met1171Ile)
c.3117G>T (p.Met1039Ile)
c.2859G>T (p.Met953Ile)
c.4137G>T (p.Met1379Ile)
 gnomAD v4
10g.75030027C>ACA377300341DUSP29,KAT6Bc.5203C>A (p.Leu1735Met)
c.4654C>A (p.Leu1552Met)
c.4327C>A (p.Leu1443Met)
n.577-3433G>T
c.*3622-3433G>T (n.*3622-3433G>T)
c.5041C>A (p.Leu1681Met)
c.4165C>A (p.Leu1389Met)
c.3514C>A (p.Leu1172Met)
c.3118C>A (p.Leu1040Met)
c.2860C>A (p.Leu954Met)
c.4138C>A (p.Leu1380Met)
10g.75030027C=CA1920306910DUSP29,KAT6Bc.5203C= (p.Leu1735=)
c.4654C= (p.Leu1552=)
c.4327C= (p.Leu1443=)
n.577-3433G=
c.*3622-3433G= (n.*3622-3433G=)
c.5041C= (p.Leu1681=)
c.4165C= (p.Leu1389=)
c.3514C= (p.Leu1172=)
c.3118C= (p.Leu1040=)
c.2860C= (p.Leu954=)
c.4138C= (p.Leu1380=)
10g.75030027C>GCA377300343DUSP29,KAT6Bc.5203C>G (p.Leu1735Val)
c.4654C>G (p.Leu1552Val)
c.4327C>G (p.Leu1443Val)
n.577-3433G>C
c.*3622-3433G>C (n.*3622-3433G>C)
c.5041C>G (p.Leu1681Val)
c.4165C>G (p.Leu1389Val)
c.3514C>G (p.Leu1172Val)
c.3118C>G (p.Leu1040Val)
c.2860C>G (p.Leu954Val)
c.4138C>G (p.Leu1380Val)
10g.75030027C>TCA209710432DUSP29,KAT6Bc.5203C>T (p.Leu1735=)
c.4654C>T (p.Leu1552=)
c.4327C>T (p.Leu1443=)
n.577-3433G>A
c.*3622-3433G>A (n.*3622-3433G>A)
c.5041C>T (p.Leu1681=)
c.4165C>T (p.Leu1389=)
c.3514C>T (p.Leu1172=)
c.3118C>T (p.Leu1040=)
c.2860C>T (p.Leu954=)
c.4138C>T (p.Leu1380=)
 dbSNP
10g.75030028T>ACA377300346DUSP29,KAT6Bc.5204T>A (p.Leu1735Gln)
c.4655T>A (p.Leu1552Gln)
c.4328T>A (p.Leu1443Gln)
n.577-3434A>T
c.*3622-3434A>T (n.*3622-3434A>T)
c.5042T>A (p.Leu1681Gln)
c.4166T>A (p.Leu1389Gln)
c.3515T>A (p.Leu1172Gln)
c.3119T>A (p.Leu1040Gln)
c.2861T>A (p.Leu954Gln)
c.4139T>A (p.Leu1380Gln)
10g.75030028T>CCA5565151DUSP29,KAT6Bc.5204T>C (p.Leu1735Pro)
c.4655T>C (p.Leu1552Pro)
c.4328T>C (p.Leu1443Pro)
n.577-3434A>G
c.*3622-3434A>G (n.*3622-3434A>G)
c.5042T>C (p.Leu1681Pro)
c.4166T>C (p.Leu1389Pro)
c.3515T>C (p.Leu1172Pro)
c.3119T>C (p.Leu1040Pro)
c.2861T>C (p.Leu954Pro)
c.4139T>C (p.Leu1380Pro)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.75030028T>GCA377300349DUSP29,KAT6Bc.5204T>G (p.Leu1735Arg)
c.4655T>G (p.Leu1552Arg)
c.4328T>G (p.Leu1443Arg)
n.577-3434A>C
c.*3622-3434A>C (n.*3622-3434A>C)
c.5042T>G (p.Leu1681Arg)
c.4166T>G (p.Leu1389Arg)
c.3515T>G (p.Leu1172Arg)
c.3119T>G (p.Leu1040Arg)
c.2861T>G (p.Leu954Arg)
c.4139T>G (p.Leu1380Arg)
 dbSNP
10g.75030028T=CA1920306911DUSP29,KAT6Bc.5204T= (p.Leu1735=)
c.4655T= (p.Leu1552=)
c.4328T= (p.Leu1443=)
n.577-3434A=
c.*3622-3434A= (n.*3622-3434A=)
c.5042T= (p.Leu1681=)
c.4166T= (p.Leu1389=)
c.3515T= (p.Leu1172=)
c.3119T= (p.Leu1040=)
c.2861T= (p.Leu954=)
c.4139T= (p.Leu1380=)
10g.75030029G>ACA470300684DUSP29,KAT6Bc.5205G>A (p.Leu1735=)
c.4656G>A (p.Leu1552=)
c.4329G>A (p.Leu1443=)
n.577-3435C>T
c.*3622-3435C>T (n.*3622-3435C>T)
c.5043G>A (p.Leu1681=)
c.4167G>A (p.Leu1389=)
c.3516G>A (p.Leu1172=)
c.3120G>A (p.Leu1040=)
c.2862G>A (p.Leu954=)
c.4140G>A (p.Leu1380=)
10g.75030029G>CCA470300685DUSP29,KAT6Bc.5205G>C (p.Leu1735=)
c.4656G>C (p.Leu1552=)
c.4329G>C (p.Leu1443=)
n.577-3435C>G
c.*3622-3435C>G (n.*3622-3435C>G)
c.5043G>C (p.Leu1681=)
c.4167G>C (p.Leu1389=)
c.3516G>C (p.Leu1172=)
c.3120G>C (p.Leu1040=)
c.2862G>C (p.Leu954=)
c.4140G>C (p.Leu1380=)
10g.75030029G>TCA470300682DUSP29,KAT6Bc.5205G>T (p.Leu1735=)
c.4656G>T (p.Leu1552=)
c.4329G>T (p.Leu1443=)
n.577-3435C>A
c.*3622-3435C>A (n.*3622-3435C>A)
c.5043G>T (p.Leu1681=)
c.4167G>T (p.Leu1389=)
c.3516G>T (p.Leu1172=)
c.3120G>T (p.Leu1040=)
c.2862G>T (p.Leu954=)
c.4140G>T (p.Leu1380=)
10g.75030030C>ACA377300352DUSP29,KAT6Bc.5206C>A (p.Gln1736Lys)
c.4657C>A (p.Gln1553Lys)
c.4330C>A (p.Gln1444Lys)
n.577-3436G>T
c.*3622-3436G>T (n.*3622-3436G>T)
c.5044C>A (p.Gln1682Lys)
c.4168C>A (p.Gln1390Lys)
c.3517C>A (p.Gln1173Lys)
c.3121C>A (p.Gln1041Lys)
c.2863C>A (p.Gln955Lys)
c.4141C>A (p.Gln1381Lys)
10g.75030030C>GCA377300354DUSP29,KAT6Bc.5206C>G (p.Gln1736Glu)
c.4657C>G (p.Gln1553Glu)
c.4330C>G (p.Gln1444Glu)
n.577-3436G>C
c.*3622-3436G>C (n.*3622-3436G>C)
c.5044C>G (p.Gln1682Glu)
c.4168C>G (p.Gln1390Glu)
c.3517C>G (p.Gln1173Glu)
c.3121C>G (p.Gln1041Glu)
c.2863C>G (p.Gln955Glu)
c.4141C>G (p.Gln1381Glu)
10g.75030030C>TCA377300356DUSP29,KAT6Bc.5206C>T (p.Gln1736Ter)
c.4657C>T (p.Gln1553Ter)
c.4330C>T (p.Gln1444Ter)
n.577-3436G>A
c.*3622-3436G>A (n.*3622-3436G>A)
c.5044C>T (p.Gln1682Ter)
c.4168C>T (p.Gln1390Ter)
c.3517C>T (p.Gln1173Ter)
c.3121C>T (p.Gln1041Ter)
c.2863C>T (p.Gln955Ter)
c.4141C>T (p.Gln1381Ter)
10g.75030031A>CCA377300362DUSP29,KAT6Bc.5207A>C (p.Gln1736Pro)
c.4658A>C (p.Gln1553Pro)
c.4331A>C (p.Gln1444Pro)
n.577-3437T>G
c.*3622-3437T>G (n.*3622-3437T>G)
c.5045A>C (p.Gln1682Pro)
c.4169A>C (p.Gln1390Pro)
c.3518A>C (p.Gln1173Pro)
c.3122A>C (p.Gln1041Pro)
c.2864A>C (p.Gln955Pro)
c.4142A>C (p.Gln1381Pro)
10g.75030031A>GCA377300360DUSP29,KAT6Bc.5207A>G (p.Gln1736Arg)
c.4658A>G (p.Gln1553Arg)
c.4331A>G (p.Gln1444Arg)
n.577-3437T>C
c.*3622-3437T>C (n.*3622-3437T>C)
c.5045A>G (p.Gln1682Arg)
c.4169A>G (p.Gln1390Arg)
c.3518A>G (p.Gln1173Arg)
c.3122A>G (p.Gln1041Arg)
c.2864A>G (p.Gln955Arg)
c.4142A>G (p.Gln1381Arg)
10g.75030031A>TCA377300358DUSP29,KAT6Bc.5207A>T (p.Gln1736Leu)
c.4658A>T (p.Gln1553Leu)
c.4331A>T (p.Gln1444Leu)
n.577-3437T>A
c.*3622-3437T>A (n.*3622-3437T>A)
c.5045A>T (p.Gln1682Leu)
c.4169A>T (p.Gln1390Leu)
c.3518A>T (p.Gln1173Leu)
c.3122A>T (p.Gln1041Leu)
c.2864A>T (p.Gln955Leu)
c.4142A>T (p.Gln1381Leu)
10g.75030032G>ACA209710439DUSP29,KAT6Bc.5208G>A (p.Gln1736=)
c.4659G>A (p.Gln1553=)
c.4332G>A (p.Gln1444=)
n.577-3438C>T
c.*3622-3438C>T (n.*3622-3438C>T)
c.5046G>A (p.Gln1682=)
c.4170G>A (p.Gln1390=)
c.3519G>A (p.Gln1173=)
c.3123G>A (p.Gln1041=)
c.2865G>A (p.Gln955=)
c.4143G>A (p.Gln1381=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.75030032G>CCA377300364DUSP29,KAT6Bc.5208G>C (p.Gln1736His)
c.4659G>C (p.Gln1553His)
c.4332G>C (p.Gln1444His)
n.577-3438C>G
c.*3622-3438C>G (n.*3622-3438C>G)
c.5046G>C (p.Gln1682His)
c.4170G>C (p.Gln1390His)
c.3519G>C (p.Gln1173His)
c.3123G>C (p.Gln1041His)
c.2865G>C (p.Gln955His)
c.4143G>C (p.Gln1381His)
10g.75030032G=CA1920306912DUSP29,KAT6Bc.5208G= (p.Gln1736=)
c.4659G= (p.Gln1553=)
c.4332G= (p.Gln1444=)
n.577-3438C=
c.*3622-3438C= (n.*3622-3438C=)
c.5046G= (p.Gln1682=)
c.4170G= (p.Gln1390=)
c.3519G= (p.Gln1173=)
c.3123G= (p.Gln1041=)
c.2865G= (p.Gln955=)
c.4143G= (p.Gln1381=)
10g.75030032G>TCA377300366DUSP29,KAT6Bc.5208G>T (p.Gln1736His)
c.4659G>T (p.Gln1553His)
c.4332G>T (p.Gln1444His)
n.577-3438C>A
c.*3622-3438C>A (n.*3622-3438C>A)
c.5046G>T (p.Gln1682His)
c.4170G>T (p.Gln1390His)
c.3519G>T (p.Gln1173His)
c.3123G>T (p.Gln1041His)
c.2865G>T (p.Gln955His)
c.4143G>T (p.Gln1381His)
10g.75030033C>ACA377300367DUSP29,KAT6Bc.5209C>A (p.Gln1737Lys)
c.4660C>A (p.Gln1554Lys)
c.4333C>A (p.Gln1445Lys)
n.577-3439G>T
c.*3622-3439G>T (n.*3622-3439G>T)
c.5047C>A (p.Gln1683Lys)
c.4171C>A (p.Gln1391Lys)
c.3520C>A (p.Gln1174Lys)
c.3124C>A (p.Gln1042Lys)
c.2866C>A (p.Gln956Lys)
c.4144C>A (p.Gln1382Lys)
10g.75030033C>GCA377300369DUSP29,KAT6Bc.5209C>G (p.Gln1737Glu)
c.4660C>G (p.Gln1554Glu)
c.4333C>G (p.Gln1445Glu)
n.577-3439G>C
c.*3622-3439G>C (n.*3622-3439G>C)
c.5047C>G (p.Gln1683Glu)
c.4171C>G (p.Gln1391Glu)
c.3520C>G (p.Gln1174Glu)
c.3124C>G (p.Gln1042Glu)
c.2866C>G (p.Gln956Glu)
c.4144C>G (p.Gln1382Glu)
10g.75030033C>TCA377300370DUSP29,KAT6Bc.5209C>T (p.Gln1737Ter)
c.4660C>T (p.Gln1554Ter)
c.4333C>T (p.Gln1445Ter)
n.577-3439G>A
c.*3622-3439G>A (n.*3622-3439G>A)
c.5047C>T (p.Gln1683Ter)
c.4171C>T (p.Gln1391Ter)
c.3520C>T (p.Gln1174Ter)
c.3124C>T (p.Gln1042Ter)
c.2866C>T (p.Gln956Ter)
c.4144C>T (p.Gln1382Ter)
10g.75030034A>CCA377300372DUSP29,KAT6Bc.5210A>C (p.Gln1737Pro)
c.4661A>C (p.Gln1554Pro)
c.4334A>C (p.Gln1445Pro)
n.577-3440T>G
c.*3622-3440T>G (n.*3622-3440T>G)
c.5048A>C (p.Gln1683Pro)
c.4172A>C (p.Gln1391Pro)
c.3521A>C (p.Gln1174Pro)
c.3125A>C (p.Gln1042Pro)
c.2867A>C (p.Gln956Pro)
c.4145A>C (p.Gln1382Pro)
10g.75030034A>GCA377300374DUSP29,KAT6Bc.5210A>G (p.Gln1737Arg)
c.4661A>G (p.Gln1554Arg)
c.4334A>G (p.Gln1445Arg)
n.577-3440T>C
c.*3622-3440T>C (n.*3622-3440T>C)
c.5048A>G (p.Gln1683Arg)
c.4172A>G (p.Gln1391Arg)
c.3521A>G (p.Gln1174Arg)
c.3125A>G (p.Gln1042Arg)
c.2867A>G (p.Gln956Arg)
c.4145A>G (p.Gln1382Arg)
10g.75030034A>TCA377300376DUSP29,KAT6Bc.5210A>T (p.Gln1737Leu)
c.4661A>T (p.Gln1554Leu)
c.4334A>T (p.Gln1445Leu)
n.577-3440T>A
c.*3622-3440T>A (n.*3622-3440T>A)
c.5048A>T (p.Gln1683Leu)
c.4172A>T (p.Gln1391Leu)
c.3521A>T (p.Gln1174Leu)
c.3125A>T (p.Gln1042Leu)
c.2867A>T (p.Gln956Leu)
c.4145A>T (p.Gln1382Leu)
10g.75030035A>CCA377300378DUSP29,KAT6Bc.5211A>C (p.Gln1737His)
c.4662A>C (p.Gln1554His)
c.4335A>C (p.Gln1445His)
n.577-3441T>G
c.*3622-3441T>G (n.*3622-3441T>G)
c.5049A>C (p.Gln1683His)
c.4173A>C (p.Gln1391His)
c.3522A>C (p.Gln1174His)
c.3126A>C (p.Gln1042His)
c.2868A>C (p.Gln956His)
c.4146A>C (p.Gln1382His)
10g.75030035A>GCA470300690DUSP29,KAT6Bc.5211A>G (p.Gln1737=)
c.4662A>G (p.Gln1554=)
c.4335A>G (p.Gln1445=)
n.577-3441T>C
c.*3622-3441T>C (n.*3622-3441T>C)
c.5049A>G (p.Gln1683=)
c.4173A>G (p.Gln1391=)
c.3522A>G (p.Gln1174=)
c.3126A>G (p.Gln1042=)
c.2868A>G (p.Gln956=)
c.4146A>G (p.Gln1382=)
 gnomAD v4 COSMIC
10g.75030035A>TCA377300381DUSP29,KAT6Bc.5211A>T (p.Gln1737His)
c.4662A>T (p.Gln1554His)
c.4335A>T (p.Gln1445His)
n.577-3441T>A
c.*3622-3441T>A (n.*3622-3441T>A)
c.5049A>T (p.Gln1683His)
c.4173A>T (p.Gln1391His)
c.3522A>T (p.Gln1174His)
c.3126A>T (p.Gln1042His)
c.2868A>T (p.Gln956His)
c.4146A>T (p.Gln1382His)
10g.75030036A>CCA377300385DUSP29,KAT6Bc.5212A>C (p.Thr1738Pro)
c.4663A>C (p.Thr1555Pro)
c.4336A>C (p.Thr1446Pro)
n.577-3442T>G
c.*3622-3442T>G (n.*3622-3442T>G)
c.5050A>C (p.Thr1684Pro)
c.4174A>C (p.Thr1392Pro)
c.3523A>C (p.Thr1175Pro)
c.3127A>C (p.Thr1043Pro)
c.2869A>C (p.Thr957Pro)
c.4147A>C (p.Thr1383Pro)
10g.75030036A>GCA377300387DUSP29,KAT6Bc.5212A>G (p.Thr1738Ala)
c.4663A>G (p.Thr1555Ala)
c.4336A>G (p.Thr1446Ala)
n.577-3442T>C
c.*3622-3442T>C (n.*3622-3442T>C)
c.5050A>G (p.Thr1684Ala)
c.4174A>G (p.Thr1392Ala)
c.3523A>G (p.Thr1175Ala)
c.3127A>G (p.Thr1043Ala)
c.2869A>G (p.Thr957Ala)
c.4147A>G (p.Thr1383Ala)
10g.75030036A>TCA377300383DUSP29,KAT6Bc.5212A>T (p.Thr1738Ser)
c.4663A>T (p.Thr1555Ser)
c.4336A>T (p.Thr1446Ser)
n.577-3442T>A
c.*3622-3442T>A (n.*3622-3442T>A)
c.5050A>T (p.Thr1684Ser)
c.4174A>T (p.Thr1392Ser)
c.3523A>T (p.Thr1175Ser)
c.3127A>T (p.Thr1043Ser)
c.2869A>T (p.Thr957Ser)
c.4147A>T (p.Thr1383Ser)
10g.75030037C>ACA377300389DUSP29,KAT6Bc.5213C>A (p.Thr1738Asn)
c.4664C>A (p.Thr1555Asn)
c.4337C>A (p.Thr1446Asn)
n.577-3443G>T
c.*3622-3443G>T (n.*3622-3443G>T)
c.5051C>A (p.Thr1684Asn)
c.4175C>A (p.Thr1392Asn)
c.3524C>A (p.Thr1175Asn)
c.3128C>A (p.Thr1043Asn)
c.2870C>A (p.Thr957Asn)
c.4148C>A (p.Thr1383Asn)
10g.75030037C=CA1920306913DUSP29,KAT6Bc.5213C= (p.Thr1738=)
c.4664C= (p.Thr1555=)
c.4337C= (p.Thr1446=)
n.577-3443G=
c.*3622-3443G= (n.*3622-3443G=)
c.5051C= (p.Thr1684=)
c.4175C= (p.Thr1392=)
c.3524C= (p.Thr1175=)
c.3128C= (p.Thr1043=)
c.2870C= (p.Thr957=)
c.4148C= (p.Thr1383=)
10g.75030037C>GCA377300390DUSP29,KAT6Bc.5213C>G (p.Thr1738Ser)
c.4664C>G (p.Thr1555Ser)
c.4337C>G (p.Thr1446Ser)
n.577-3443G>C
c.*3622-3443G>C (n.*3622-3443G>C)
c.5051C>G (p.Thr1684Ser)
c.4175C>G (p.Thr1392Ser)
c.3524C>G (p.Thr1175Ser)
c.3128C>G (p.Thr1043Ser)
c.2870C>G (p.Thr957Ser)
c.4148C>G (p.Thr1383Ser)
10g.75030037C>TCA377300392DUSP29,KAT6Bc.5213C>T (p.Thr1738Ile)
c.4664C>T (p.Thr1555Ile)
c.4337C>T (p.Thr1446Ile)
n.577-3443G>A
c.*3622-3443G>A (n.*3622-3443G>A)
c.5051C>T (p.Thr1684Ile)
c.4175C>T (p.Thr1392Ile)
c.3524C>T (p.Thr1175Ile)
c.3128C>T (p.Thr1043Ile)
c.2870C>T (p.Thr957Ile)
c.4148C>T (p.Thr1383Ile)
 ClinVar dbSNP gnomAD v4
10g.75030038C>ACA470300694DUSP29,KAT6Bc.5214C>A (p.Thr1738=)
c.4665C>A (p.Thr1555=)
c.4338C>A (p.Thr1446=)
n.577-3444G>T
c.*3622-3444G>T (n.*3622-3444G>T)
c.5052C>A (p.Thr1684=)
c.4176C>A (p.Thr1392=)
c.3525C>A (p.Thr1175=)
c.3129C>A (p.Thr1043=)
c.2871C>A (p.Thr957=)
c.4149C>A (p.Thr1383=)
10g.75030038C=CA1920306914DUSP29,KAT6Bc.5214C= (p.Thr1738=)
c.4665C= (p.Thr1555=)
c.4338C= (p.Thr1446=)
n.577-3444G=
c.*3622-3444G= (n.*3622-3444G=)
c.5052C= (p.Thr1684=)
c.4176C= (p.Thr1392=)
c.3525C= (p.Thr1175=)
c.3129C= (p.Thr1043=)
c.2871C= (p.Thr957=)
c.4149C= (p.Thr1383=)
10g.75030038C>GCA470300695DUSP29,KAT6Bc.5214C>G (p.Thr1738=)
c.4665C>G (p.Thr1555=)
c.4338C>G (p.Thr1446=)
n.577-3444G>C
c.*3622-3444G>C (n.*3622-3444G>C)
c.5052C>G (p.Thr1684=)
c.4176C>G (p.Thr1392=)
c.3525C>G (p.Thr1175=)
c.3129C>G (p.Thr1043=)
c.2871C>G (p.Thr957=)
c.4149C>G (p.Thr1383=)
10g.75030038C>TCA5565152DUSP29,KAT6Bc.5214C>T (p.Thr1738=)
c.4665C>T (p.Thr1555=)
c.4338C>T (p.Thr1446=)
n.577-3444G>A
c.*3622-3444G>A (n.*3622-3444G>A)
c.5052C>T (p.Thr1684=)
c.4176C>T (p.Thr1392=)
c.3525C>T (p.Thr1175=)
c.3129C>T (p.Thr1043=)
c.2871C>T (p.Thr957=)
c.4149C>T (p.Thr1383=)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.75030039A>CCA377300395DUSP29,KAT6Bc.5215A>C (p.Ser1739Arg)
c.4666A>C (p.Ser1556Arg)
c.4339A>C (p.Ser1447Arg)
n.577-3445T>G
c.*3622-3445T>G (n.*3622-3445T>G)
c.5053A>C (p.Ser1685Arg)
c.4177A>C (p.Ser1393Arg)
c.3526A>C (p.Ser1176Arg)
c.3130A>C (p.Ser1044Arg)
c.2872A>C (p.Ser958Arg)
c.4150A>C (p.Ser1384Arg)
10g.75030039A>GCA377300397DUSP29,KAT6Bc.5215A>G (p.Ser1739Gly)
c.4666A>G (p.Ser1556Gly)
c.4339A>G (p.Ser1447Gly)
n.577-3445T>C
c.*3622-3445T>C (n.*3622-3445T>C)
c.5053A>G (p.Ser1685Gly)
c.4177A>G (p.Ser1393Gly)
c.3526A>G (p.Ser1176Gly)
c.3130A>G (p.Ser1044Gly)
c.2872A>G (p.Ser958Gly)
c.4150A>G (p.Ser1384Gly)
10g.75030039A>TCA377300399DUSP29,KAT6Bc.5215A>T (p.Ser1739Cys)
c.4666A>T (p.Ser1556Cys)
c.4339A>T (p.Ser1447Cys)
n.577-3445T>A
c.*3622-3445T>A (n.*3622-3445T>A)
c.5053A>T (p.Ser1685Cys)
c.4177A>T (p.Ser1393Cys)
c.3526A>T (p.Ser1176Cys)
c.3130A>T (p.Ser1044Cys)
c.2872A>T (p.Ser958Cys)
c.4150A>T (p.Ser1384Cys)
10g.75030040G>ACA5565153DUSP29,KAT6Bc.5216G>A (p.Ser1739Asn)
c.4667G>A (p.Ser1556Asn)
c.4340G>A (p.Ser1447Asn)
n.577-3446C>T
c.*3622-3446C>T (n.*3622-3446C>T)
c.5054G>A (p.Ser1685Asn)
c.4178G>A (p.Ser1393Asn)
c.3527G>A (p.Ser1176Asn)
c.3131G>A (p.Ser1044Asn)
c.2873G>A (p.Ser958Asn)
c.4151G>A (p.Ser1384Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.75030040G>CCA377300403DUSP29,KAT6Bc.5216G>C (p.Ser1739Thr)
c.4667G>C (p.Ser1556Thr)
c.4340G>C (p.Ser1447Thr)
n.577-3446C>G
c.*3622-3446C>G (n.*3622-3446C>G)
c.5054G>C (p.Ser1685Thr)
c.4178G>C (p.Ser1393Thr)
c.3527G>C (p.Ser1176Thr)
c.3131G>C (p.Ser1044Thr)
c.2873G>C (p.Ser958Thr)
c.4151G>C (p.Ser1384Thr)
10g.75030040G=CA1920306915DUSP29,KAT6Bc.5216G= (p.Ser1739=)
c.4667G= (p.Ser1556=)
c.4340G= (p.Ser1447=)
n.577-3446C=
c.*3622-3446C= (n.*3622-3446C=)
c.5054G= (p.Ser1685=)
c.4178G= (p.Ser1393=)
c.3527G= (p.Ser1176=)
c.3131G= (p.Ser1044=)
c.2873G= (p.Ser958=)
c.4151G= (p.Ser1384=)
10g.75030040G>TCA377300405DUSP29,KAT6Bc.5216G>T (p.Ser1739Ile)
c.4667G>T (p.Ser1556Ile)
c.4340G>T (p.Ser1447Ile)
n.577-3446C>A
c.*3622-3446C>A (n.*3622-3446C>A)
c.5054G>T (p.Ser1685Ile)
c.4178G>T (p.Ser1393Ile)
c.3527G>T (p.Ser1176Ile)
c.3131G>T (p.Ser1044Ile)
c.2873G>T (p.Ser958Ile)
c.4151G>T (p.Ser1384Ile)
10g.75030041C>ACA377300407DUSP29,KAT6Bc.5217C>A (p.Ser1739Arg)
c.4668C>A (p.Ser1556Arg)
c.4341C>A (p.Ser1447Arg)
n.577-3447G>T
c.*3622-3447G>T (n.*3622-3447G>T)
c.5055C>A (p.Ser1685Arg)
c.4179C>A (p.Ser1393Arg)
c.3528C>A (p.Ser1176Arg)
c.3132C>A (p.Ser1044Arg)
c.2874C>A (p.Ser958Arg)
c.4152C>A (p.Ser1384Arg)
10g.75030041C>GCA377300409DUSP29,KAT6Bc.5217C>G (p.Ser1739Arg)
c.4668C>G (p.Ser1556Arg)
c.4341C>G (p.Ser1447Arg)
n.577-3447G>C
c.*3622-3447G>C (n.*3622-3447G>C)
c.5055C>G (p.Ser1685Arg)
c.4179C>G (p.Ser1393Arg)
c.3528C>G (p.Ser1176Arg)
c.3132C>G (p.Ser1044Arg)
c.2874C>G (p.Ser958Arg)
c.4152C>G (p.Ser1384Arg)
10g.75030041C>TCA470300752DUSP29,KAT6Bc.5217C>T (p.Ser1739=)
c.4668C>T (p.Ser1556=)
c.4341C>T (p.Ser1447=)
n.577-3447G>A
c.*3622-3447G>A (n.*3622-3447G>A)
c.5055C>T (p.Ser1685=)
c.4179C>T (p.Ser1393=)
c.3528C>T (p.Ser1176=)
c.3132C>T (p.Ser1044=)
c.2874C>T (p.Ser958=)
c.4152C>T (p.Ser1384=)
10g.75030042A>CCA377300415DUSP29,KAT6Bc.5218A>C (p.Ile1740Leu)
c.4669A>C (p.Ile1557Leu)
c.4342A>C (p.Ile1448Leu)
n.577-3448T>G
c.*3622-3448T>G (n.*3622-3448T>G)
c.5056A>C (p.Ile1686Leu)
c.4180A>C (p.Ile1394Leu)
c.3529A>C (p.Ile1177Leu)
c.3133A>C (p.Ile1045Leu)
c.2875A>C (p.Ile959Leu)
c.4153A>C (p.Ile1385Leu)
10g.75030042A>GCA377300411DUSP29,KAT6Bc.5218A>G (p.Ile1740Val)
c.4669A>G (p.Ile1557Val)
c.4342A>G (p.Ile1448Val)
n.577-3448T>C
c.*3622-3448T>C (n.*3622-3448T>C)
c.5056A>G (p.Ile1686Val)
c.4180A>G (p.Ile1394Val)
c.3529A>G (p.Ile1177Val)
c.3133A>G (p.Ile1045Val)
c.2875A>G (p.Ile959Val)
c.4153A>G (p.Ile1385Val)
10g.75030042A>TCA377300413DUSP29,KAT6Bc.5218A>T (p.Ile1740Phe)
c.4669A>T (p.Ile1557Phe)
c.4342A>T (p.Ile1448Phe)
n.577-3448T>A
c.*3622-3448T>A (n.*3622-3448T>A)
c.5056A>T (p.Ile1686Phe)
c.4180A>T (p.Ile1394Phe)
c.3529A>T (p.Ile1177Phe)
c.3133A>T (p.Ile1045Phe)
c.2875A>T (p.Ile959Phe)
c.4153A>T (p.Ile1385Phe)
10g.75030043T>ACA377300417DUSP29,KAT6Bc.5219T>A (p.Ile1740Asn)
c.4670T>A (p.Ile1557Asn)
c.4343T>A (p.Ile1448Asn)
n.577-3449A>T
c.*3622-3449A>T (n.*3622-3449A>T)
c.5057T>A (p.Ile1686Asn)
c.4181T>A (p.Ile1394Asn)
c.3530T>A (p.Ile1177Asn)
c.3134T>A (p.Ile1045Asn)
c.2876T>A (p.Ile959Asn)
c.4154T>A (p.Ile1385Asn)
10g.75030043T>CCA377300418DUSP29,KAT6Bc.5219T>C (p.Ile1740Thr)
c.4670T>C (p.Ile1557Thr)
c.4343T>C (p.Ile1448Thr)
n.577-3449A>G
c.*3622-3449A>G (n.*3622-3449A>G)
c.5057T>C (p.Ile1686Thr)
c.4181T>C (p.Ile1394Thr)
c.3530T>C (p.Ile1177Thr)
c.3134T>C (p.Ile1045Thr)
c.2876T>C (p.Ile959Thr)
c.4154T>C (p.Ile1385Thr)
10g.75030043T>GCA377300420DUSP29,KAT6Bc.5219T>G (p.Ile1740Ser)
c.4670T>G (p.Ile1557Ser)
c.4343T>G (p.Ile1448Ser)
n.577-3449A>C
c.*3622-3449A>C (n.*3622-3449A>C)
c.5057T>G (p.Ile1686Ser)
c.4181T>G (p.Ile1394Ser)
c.3530T>G (p.Ile1177Ser)
c.3134T>G (p.Ile1045Ser)
c.2876T>G (p.Ile959Ser)
c.4154T>G (p.Ile1385Ser)
10g.75030044C>ACA470300754DUSP29,KAT6Bc.5220C>A (p.Ile1740=)
c.4671C>A (p.Ile1557=)
c.4344C>A (p.Ile1448=)
n.577-3450G>T
c.*3622-3450G>T (n.*3622-3450G>T)
c.5058C>A (p.Ile1686=)
c.4182C>A (p.Ile1394=)
c.3531C>A (p.Ile1177=)
c.3135C>A (p.Ile1045=)
c.2877C>A (p.Ile959=)
c.4155C>A (p.Ile1385=)
10g.75030044C>GCA377300422DUSP29,KAT6Bc.5220C>G (p.Ile1740Met)
c.4671C>G (p.Ile1557Met)
c.4344C>G (p.Ile1448Met)
n.577-3450G>C
c.*3622-3450G>C (n.*3622-3450G>C)
c.5058C>G (p.Ile1686Met)
c.4182C>G (p.Ile1394Met)
c.3531C>G (p.Ile1177Met)
c.3135C>G (p.Ile1045Met)
c.2877C>G (p.Ile959Met)
c.4155C>G (p.Ile1385Met)
10g.75030044C>TCA470300753DUSP29,KAT6Bc.5220C>T (p.Ile1740=)
c.4671C>T (p.Ile1557=)
c.4344C>T (p.Ile1448=)
n.577-3450G>A
c.*3622-3450G>A (n.*3622-3450G>A)
c.5058C>T (p.Ile1686=)
c.4182C>T (p.Ile1394=)
c.3531C>T (p.Ile1177=)
c.3135C>T (p.Ile1045=)
c.2877C>T (p.Ile959=)
c.4155C>T (p.Ile1385=)
10g.75030045A=CA1920306916DUSP29,KAT6Bc.5221A= (p.Ser1741=)
c.4672A= (p.Ser1558=)
c.4345A= (p.Ser1449=)
n.577-3451T=
c.*3622-3451T= (n.*3622-3451T=)
c.5059A= (p.Ser1687=)
c.4183A= (p.Ser1395=)
c.3532A= (p.Ser1178=)
c.3136A= (p.Ser1046=)
c.2878A= (p.Ser960=)
c.4156A= (p.Ser1386=)
10g.75030045A>CCA377300425DUSP29,KAT6Bc.5221A>C (p.Ser1741Arg)
c.4672A>C (p.Ser1558Arg)
c.4345A>C (p.Ser1449Arg)
n.577-3451T>G
c.*3622-3451T>G (n.*3622-3451T>G)
c.5059A>C (p.Ser1687Arg)
c.4183A>C (p.Ser1395Arg)
c.3532A>C (p.Ser1178Arg)
c.3136A>C (p.Ser1046Arg)
c.2878A>C (p.Ser960Arg)
c.4156A>C (p.Ser1386Arg)
10g.75030045A>GCA10636435DUSP29,KAT6Bc.5221A>G (p.Ser1741Gly)
c.4672A>G (p.Ser1558Gly)
c.4345A>G (p.Ser1449Gly)
n.577-3451T>C
c.*3622-3451T>C (n.*3622-3451T>C)
c.5059A>G (p.Ser1687Gly)
c.4183A>G (p.Ser1395Gly)
c.3532A>G (p.Ser1178Gly)
c.3136A>G (p.Ser1046Gly)
c.2878A>G (p.Ser960Gly)
c.4156A>G (p.Ser1386Gly)
 dbSNP gnomAD v4
10g.75030045A>TCA377300428DUSP29,KAT6Bc.5221A>T (p.Ser1741Cys)
c.4672A>T (p.Ser1558Cys)
c.4345A>T (p.Ser1449Cys)
n.577-3451T>A
c.*3622-3451T>A (n.*3622-3451T>A)
c.5059A>T (p.Ser1687Cys)
c.4183A>T (p.Ser1395Cys)
c.3532A>T (p.Ser1178Cys)
c.3136A>T (p.Ser1046Cys)
c.2878A>T (p.Ser960Cys)
c.4156A>T (p.Ser1386Cys)
 dbSNP gnomAD v4
10g.75030046G>ACA377300431DUSP29,KAT6Bc.5222G>A (p.Ser1741Asn)
c.4673G>A (p.Ser1558Asn)
c.4346G>A (p.Ser1449Asn)
n.577-3452C>T
c.*3622-3452C>T (n.*3622-3452C>T)
c.5060G>A (p.Ser1687Asn)
c.4184G>A (p.Ser1395Asn)
c.3533G>A (p.Ser1178Asn)
c.3137G>A (p.Ser1046Asn)
c.2879G>A (p.Ser960Asn)
c.4157G>A (p.Ser1386Asn)
 gnomAD v4
10g.75030046G>CCA377300433DUSP29,KAT6Bc.5222G>C (p.Ser1741Thr)
c.4673G>C (p.Ser1558Thr)
c.4346G>C (p.Ser1449Thr)
n.577-3452C>G
c.*3622-3452C>G (n.*3622-3452C>G)
c.5060G>C (p.Ser1687Thr)
c.4184G>C (p.Ser1395Thr)
c.3533G>C (p.Ser1178Thr)
c.3137G>C (p.Ser1046Thr)
c.2879G>C (p.Ser960Thr)
c.4157G>C (p.Ser1386Thr)
 dbSNP gnomAD v3 gnomAD v4
10g.75030046G=CA1920306917DUSP29,KAT6Bc.5222G= (p.Ser1741=)
c.4673G= (p.Ser1558=)
c.4346G= (p.Ser1449=)
n.577-3452C=
c.*3622-3452C= (n.*3622-3452C=)
c.5060G= (p.Ser1687=)
c.4184G= (p.Ser1395=)
c.3533G= (p.Ser1178=)
c.3137G= (p.Ser1046=)
c.2879G= (p.Ser960=)
c.4157G= (p.Ser1386=)
10g.75030046G>TCA377300435DUSP29,KAT6Bc.5222G>T (p.Ser1741Ile)
c.4673G>T (p.Ser1558Ile)
c.4346G>T (p.Ser1449Ile)
n.577-3452C>A
c.*3622-3452C>A (n.*3622-3452C>A)
c.5060G>T (p.Ser1687Ile)
c.4184G>T (p.Ser1395Ile)
c.3533G>T (p.Ser1178Ile)
c.3137G>T (p.Ser1046Ile)
c.2879G>T (p.Ser960Ile)
c.4157G>T (p.Ser1386Ile)
10g.75030047C>ACA377300437DUSP29,KAT6Bc.5223C>A (p.Ser1741Arg)
c.4674C>A (p.Ser1558Arg)
c.4347C>A (p.Ser1449Arg)
n.577-3453G>T
c.*3622-3453G>T (n.*3622-3453G>T)
c.5061C>A (p.Ser1687Arg)
c.4185C>A (p.Ser1395Arg)
c.3534C>A (p.Ser1178Arg)
c.3138C>A (p.Ser1046Arg)
c.2880C>A (p.Ser960Arg)
c.4158C>A (p.Ser1386Arg)
10g.75030047C=CA1920306918DUSP29,KAT6Bc.5223C= (p.Ser1741=)
c.4674C= (p.Ser1558=)
c.4347C= (p.Ser1449=)
n.577-3453G=
c.*3622-3453G= (n.*3622-3453G=)
c.5061C= (p.Ser1687=)
c.4185C= (p.Ser1395=)
c.3534C= (p.Ser1178=)
c.3138C= (p.Ser1046=)
c.2880C= (p.Ser960=)
c.4158C= (p.Ser1386=)
10g.75030047C>GCA377300439DUSP29,KAT6Bc.5223C>G (p.Ser1741Arg)
c.4674C>G (p.Ser1558Arg)
c.4347C>G (p.Ser1449Arg)
n.577-3453G>C
c.*3622-3453G>C (n.*3622-3453G>C)
c.5061C>G (p.Ser1687Arg)
c.4185C>G (p.Ser1395Arg)
c.3534C>G (p.Ser1178Arg)
c.3138C>G (p.Ser1046Arg)
c.2880C>G (p.Ser960Arg)
c.4158C>G (p.Ser1386Arg)
10g.75030047C>TCA470300755DUSP29,KAT6Bc.5223C>T (p.Ser1741=)
c.4674C>T (p.Ser1558=)
c.4347C>T (p.Ser1449=)
n.577-3453G>A
c.*3622-3453G>A (n.*3622-3453G>A)
c.5061C>T (p.Ser1687=)
c.4185C>T (p.Ser1395=)
c.3534C>T (p.Ser1178=)
c.3138C>T (p.Ser1046=)
c.2880C>T (p.Ser960=)
c.4158C>T (p.Ser1386=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.75030048T>ACA377300445DUSP29,KAT6Bc.5224T>A (p.Ser1742Thr)
c.4675T>A (p.Ser1559Thr)
c.4348T>A (p.Ser1450Thr)
n.577-3454A>T
c.*3622-3454A>T (n.*3622-3454A>T)
c.5062T>A (p.Ser1688Thr)
c.4186T>A (p.Ser1396Thr)
c.3535T>A (p.Ser1179Thr)
c.3139T>A (p.Ser1047Thr)
c.2881T>A (p.Ser961Thr)
c.4159T>A (p.Ser1387Thr)
10g.75030048T>CCA377300446DUSP29,KAT6Bc.5224T>C (p.Ser1742Pro)
c.4675T>C (p.Ser1559Pro)
c.4348T>C (p.Ser1450Pro)
n.577-3454A>G
c.*3622-3454A>G (n.*3622-3454A>G)
c.5062T>C (p.Ser1688Pro)
c.4186T>C (p.Ser1396Pro)
c.3535T>C (p.Ser1179Pro)
c.3139T>C (p.Ser1047Pro)
c.2881T>C (p.Ser961Pro)
c.4159T>C (p.Ser1387Pro)
10g.75030048T>GCA377300442DUSP29,KAT6Bc.5224T>G (p.Ser1742Ala)
c.4675T>G (p.Ser1559Ala)
c.4348T>G (p.Ser1450Ala)
n.577-3454A>C
c.*3622-3454A>C (n.*3622-3454A>C)
c.5062T>G (p.Ser1688Ala)
c.4186T>G (p.Ser1396Ala)
c.3535T>G (p.Ser1179Ala)
c.3139T>G (p.Ser1047Ala)
c.2881T>G (p.Ser961Ala)
c.4159T>G (p.Ser1387Ala)
10g.75030049C>ACA377300453DUSP29,KAT6Bc.5225C>A (p.Ser1742Tyr)
c.4676C>A (p.Ser1559Tyr)
c.4349C>A (p.Ser1450Tyr)
n.577-3455G>T
c.*3622-3455G>T (n.*3622-3455G>T)
c.5063C>A (p.Ser1688Tyr)
c.4187C>A (p.Ser1396Tyr)
c.3536C>A (p.Ser1179Tyr)
c.3140C>A (p.Ser1047Tyr)
c.2882C>A (p.Ser961Tyr)
c.4160C>A (p.Ser1387Tyr)
10g.75030049C>GCA377300449DUSP29,KAT6Bc.5225C>G (p.Ser1742Cys)
c.4676C>G (p.Ser1559Cys)
c.4349C>G (p.Ser1450Cys)
n.577-3455G>C
c.*3622-3455G>C (n.*3622-3455G>C)
c.5063C>G (p.Ser1688Cys)
c.4187C>G (p.Ser1396Cys)
c.3536C>G (p.Ser1179Cys)
c.3140C>G (p.Ser1047Cys)
c.2882C>G (p.Ser961Cys)
c.4160C>G (p.Ser1387Cys)
10g.75030049C>TCA377300451DUSP29,KAT6Bc.5225C>T (p.Ser1742Phe)
c.4676C>T (p.Ser1559Phe)
c.4349C>T (p.Ser1450Phe)
n.577-3455G>A
c.*3622-3455G>A (n.*3622-3455G>A)
c.5063C>T (p.Ser1688Phe)
c.4187C>T (p.Ser1396Phe)
c.3536C>T (p.Ser1179Phe)
c.3140C>T (p.Ser1047Phe)
c.2882C>T (p.Ser961Phe)
c.4160C>T (p.Ser1387Phe)
10g.75030050C>ACA470300756DUSP29,KAT6Bc.5226C>A (p.Ser1742=)
c.4677C>A (p.Ser1559=)
c.4350C>A (p.Ser1450=)
n.577-3456G>T
c.*3622-3456G>T (n.*3622-3456G>T)
c.5064C>A (p.Ser1688=)
c.4188C>A (p.Ser1396=)
c.3537C>A (p.Ser1179=)
c.3141C>A (p.Ser1047=)
c.2883C>A (p.Ser961=)
c.4161C>A (p.Ser1387=)
10g.75030050C>GCA470300757DUSP29,KAT6Bc.5226C>G (p.Ser1742=)
c.4677C>G (p.Ser1559=)
c.4350C>G (p.Ser1450=)
n.577-3456G>C
c.*3622-3456G>C (n.*3622-3456G>C)
c.5064C>G (p.Ser1688=)
c.4188C>G (p.Ser1396=)
c.3537C>G (p.Ser1179=)
c.3141C>G (p.Ser1047=)
c.2883C>G (p.Ser961=)
c.4161C>G (p.Ser1387=)
 dbSNP
10g.75030050C>TCA470300758DUSP29,KAT6Bc.5226C>T (p.Ser1742=)
c.4677C>T (p.Ser1559=)
c.4350C>T (p.Ser1450=)
n.577-3456G>A
c.*3622-3456G>A (n.*3622-3456G>A)
c.5064C>T (p.Ser1688=)
c.4188C>T (p.Ser1396=)
c.3537C>T (p.Ser1179=)
c.3141C>T (p.Ser1047=)
c.2883C>T (p.Ser961=)
c.4161C>T (p.Ser1387=)
 gnomAD v4
10g.75030051C>ACA377300456DUSP29,KAT6Bc.5227C>A (p.Pro1743Thr)
c.4678C>A (p.Pro1560Thr)
c.4351C>A (p.Pro1451Thr)
n.577-3457G>T
c.*3622-3457G>T (n.*3622-3457G>T)
c.5065C>A (p.Pro1689Thr)
c.4189C>A (p.Pro1397Thr)
c.3538C>A (p.Pro1180Thr)
c.3142C>A (p.Pro1048Thr)
c.2884C>A (p.Pro962Thr)
c.4162C>A (p.Pro1388Thr)
10g.75030051C=CA1920306919DUSP29,KAT6Bc.5227C= (p.Pro1743=)
c.4678C= (p.Pro1560=)
c.4351C= (p.Pro1451=)
n.577-3457G=
c.*3622-3457G= (n.*3622-3457G=)
c.5065C= (p.Pro1689=)
c.4189C= (p.Pro1397=)
c.3538C= (p.Pro1180=)
c.3142C= (p.Pro1048=)
c.2884C= (p.Pro962=)
c.4162C= (p.Pro1388=)
10g.75030051C>GCA377300458DUSP29,KAT6Bc.5227C>G (p.Pro1743Ala)
c.4678C>G (p.Pro1560Ala)
c.4351C>G (p.Pro1451Ala)
n.577-3457G>C
c.*3622-3457G>C (n.*3622-3457G>C)
c.5065C>G (p.Pro1689Ala)
c.4189C>G (p.Pro1397Ala)
c.3538C>G (p.Pro1180Ala)
c.3142C>G (p.Pro1048Ala)
c.2884C>G (p.Pro962Ala)
c.4162C>G (p.Pro1388Ala)
10g.75030051C>TCA5565154DUSP29,KAT6Bc.5227C>T (p.Pro1743Ser)
c.4678C>T (p.Pro1560Ser)
c.4351C>T (p.Pro1451Ser)
n.577-3457G>A
c.*3622-3457G>A (n.*3622-3457G>A)
c.5065C>T (p.Pro1689Ser)
c.4189C>T (p.Pro1397Ser)
c.3538C>T (p.Pro1180Ser)
c.3142C>T (p.Pro1048Ser)
c.2884C>T (p.Pro962Ser)
c.4162C>T (p.Pro1388Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4

Number of alleles fetched