Chr Mutation (hg38) CAid Gene Transcript Linkouts
10g.75028616G>ACA470299525DUSP29,KAT6Bc.3792G>A (p.Glu1264=)
c.3243G>A (p.Glu1081=)
c.2916G>A (p.Glu972=)
c.2727G>A (p.Glu909=)
n.577-2022C>T
c.*3622-2022C>T (n.*3622-2022C>T)
c.3630G>A (p.Glu1210=)
c.2754G>A (p.Glu918=)
c.2103G>A (p.Glu701=)
c.1707G>A (p.Glu569=)
c.1449G>A (p.Glu483=)
10g.75028616G>CCA377291821DUSP29,KAT6Bc.3792G>C (p.Glu1264Asp)
c.3243G>C (p.Glu1081Asp)
c.2916G>C (p.Glu972Asp)
c.2727G>C (p.Glu909Asp)
n.577-2022C>G
c.*3622-2022C>G (n.*3622-2022C>G)
c.3630G>C (p.Glu1210Asp)
c.2754G>C (p.Glu918Asp)
c.2103G>C (p.Glu701Asp)
c.1707G>C (p.Glu569Asp)
c.1449G>C (p.Glu483Asp)
10g.75028616G>TCA377291823DUSP29,KAT6Bc.3792G>T (p.Glu1264Asp)
c.3243G>T (p.Glu1081Asp)
c.2916G>T (p.Glu972Asp)
c.2727G>T (p.Glu909Asp)
n.577-2022C>A
c.*3622-2022C>A (n.*3622-2022C>A)
c.3630G>T (p.Glu1210Asp)
c.2754G>T (p.Glu918Asp)
c.2103G>T (p.Glu701Asp)
c.1707G>T (p.Glu569Asp)
c.1449G>T (p.Glu483Asp)
10g.75028617A=CA1920306402DUSP29,KAT6Bc.3793A= (p.Arg1265=)
c.3244A= (p.Arg1082=)
c.2917A= (p.Arg973=)
c.2728A= (p.Arg910=)
n.577-2023T=
c.*3622-2023T= (n.*3622-2023T=)
c.3631A= (p.Arg1211=)
c.2755A= (p.Arg919=)
c.2104A= (p.Arg702=)
c.1708A= (p.Arg570=)
c.1450A= (p.Arg484=)
10g.75028617A>CCA470299526DUSP29,KAT6Bc.3793A>C (p.Arg1265=)
c.3244A>C (p.Arg1082=)
c.2917A>C (p.Arg973=)
c.2728A>C (p.Arg910=)
n.577-2023T>G
c.*3622-2023T>G (n.*3622-2023T>G)
c.3631A>C (p.Arg1211=)
c.2755A>C (p.Arg919=)
c.2104A>C (p.Arg702=)
c.1708A>C (p.Arg570=)
c.1450A>C (p.Arg484=)
10g.75028617A>GCA377291826DUSP29,KAT6Bc.3793A>G (p.Arg1265Gly)
c.3244A>G (p.Arg1082Gly)
c.2917A>G (p.Arg973Gly)
c.2728A>G (p.Arg910Gly)
n.577-2023T>C
c.*3622-2023T>C (n.*3622-2023T>C)
c.3631A>G (p.Arg1211Gly)
c.2755A>G (p.Arg919Gly)
c.2104A>G (p.Arg702Gly)
c.1708A>G (p.Arg570Gly)
c.1450A>G (p.Arg484Gly)
 dbSNP gnomAD v3 gnomAD v4
10g.75028617A>TCA377291827DUSP29,KAT6Bc.3793A>T (p.Arg1265Trp)
c.3244A>T (p.Arg1082Trp)
c.2917A>T (p.Arg973Trp)
c.2728A>T (p.Arg910Trp)
n.577-2023T>A
c.*3622-2023T>A (n.*3622-2023T>A)
c.3631A>T (p.Arg1211Trp)
c.2755A>T (p.Arg919Trp)
c.2104A>T (p.Arg702Trp)
c.1708A>T (p.Arg570Trp)
c.1450A>T (p.Arg484Trp)
10g.75028618G>ACA377291829DUSP29,KAT6Bc.3794G>A (p.Arg1265Lys)
c.3245G>A (p.Arg1082Lys)
c.2918G>A (p.Arg973Lys)
c.2729G>A (p.Arg910Lys)
n.577-2024C>T
c.*3622-2024C>T (n.*3622-2024C>T)
c.3632G>A (p.Arg1211Lys)
c.2756G>A (p.Arg919Lys)
c.2105G>A (p.Arg702Lys)
c.1709G>A (p.Arg570Lys)
c.1451G>A (p.Arg484Lys)
 gnomAD v4
10g.75028618G>CCA377291831DUSP29,KAT6Bc.3794G>C (p.Arg1265Thr)
c.3245G>C (p.Arg1082Thr)
c.2918G>C (p.Arg973Thr)
c.2729G>C (p.Arg910Thr)
n.577-2024C>G
c.*3622-2024C>G (n.*3622-2024C>G)
c.3632G>C (p.Arg1211Thr)
c.2756G>C (p.Arg919Thr)
c.2105G>C (p.Arg702Thr)
c.1709G>C (p.Arg570Thr)
c.1451G>C (p.Arg484Thr)
10g.75028618G>TCA377291835DUSP29,KAT6Bc.3794G>T (p.Arg1265Met)
c.3245G>T (p.Arg1082Met)
c.2918G>T (p.Arg973Met)
c.2729G>T (p.Arg910Met)
n.577-2024C>A
c.*3622-2024C>A (n.*3622-2024C>A)
c.3632G>T (p.Arg1211Met)
c.2756G>T (p.Arg919Met)
c.2105G>T (p.Arg702Met)
c.1709G>T (p.Arg570Met)
c.1451G>T (p.Arg484Met)
10g.75028619G>ACA5564906DUSP29,KAT6Bc.3795G>A (p.Arg1265=)
c.3246G>A (p.Arg1082=)
c.2919G>A (p.Arg973=)
c.2730G>A (p.Arg910=)
n.577-2025C>T
c.*3622-2025C>T (n.*3622-2025C>T)
c.3633G>A (p.Arg1211=)
c.2757G>A (p.Arg919=)
c.2106G>A (p.Arg702=)
c.1710G>A (p.Arg570=)
c.1452G>A (p.Arg484=)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.75028619G>CCA377291840DUSP29,KAT6Bc.3795G>C (p.Arg1265Ser)
c.3246G>C (p.Arg1082Ser)
c.2919G>C (p.Arg973Ser)
c.2730G>C (p.Arg910Ser)
n.577-2025C>G
c.*3622-2025C>G (n.*3622-2025C>G)
c.3633G>C (p.Arg1211Ser)
c.2757G>C (p.Arg919Ser)
c.2106G>C (p.Arg702Ser)
c.1710G>C (p.Arg570Ser)
c.1452G>C (p.Arg484Ser)
10g.75028619G=CA1920306403DUSP29,KAT6Bc.3795G= (p.Arg1265=)
c.3246G= (p.Arg1082=)
c.2919G= (p.Arg973=)
c.2730G= (p.Arg910=)
n.577-2025C=
c.*3622-2025C= (n.*3622-2025C=)
c.3633G= (p.Arg1211=)
c.2757G= (p.Arg919=)
c.2106G= (p.Arg702=)
c.1710G= (p.Arg570=)
c.1452G= (p.Arg484=)
10g.75028619G>TCA377291843DUSP29,KAT6Bc.3795G>T (p.Arg1265Ser)
c.3246G>T (p.Arg1082Ser)
c.2919G>T (p.Arg973Ser)
c.2730G>T (p.Arg910Ser)
n.577-2025C>A
c.*3622-2025C>A (n.*3622-2025C>A)
c.3633G>T (p.Arg1211Ser)
c.2757G>T (p.Arg919Ser)
c.2106G>T (p.Arg702Ser)
c.1710G>T (p.Arg570Ser)
c.1452G>T (p.Arg484Ser)
10g.75028620A=CA1920306404DUSP29,KAT6Bc.3796A= (p.Lys1266=)
c.3247A= (p.Lys1083=)
c.2920A= (p.Lys974=)
c.2731A= (p.Lys911=)
n.577-2026T=
c.*3622-2026T= (n.*3622-2026T=)
c.3634A= (p.Lys1212=)
c.2758A= (p.Lys920=)
c.2107A= (p.Lys703=)
c.1711A= (p.Lys571=)
c.1453A= (p.Lys485=)
10g.75028620A>CCA377291851DUSP29,KAT6Bc.3796A>C (p.Lys1266Gln)
c.3247A>C (p.Lys1083Gln)
c.2920A>C (p.Lys974Gln)
c.2731A>C (p.Lys911Gln)
n.577-2026T>G
c.*3622-2026T>G (n.*3622-2026T>G)
c.3634A>C (p.Lys1212Gln)
c.2758A>C (p.Lys920Gln)
c.2107A>C (p.Lys703Gln)
c.1711A>C (p.Lys571Gln)
c.1453A>C (p.Lys485Gln)
10g.75028620A>GCA5564907DUSP29,KAT6Bc.3796A>G (p.Lys1266Glu)
c.3247A>G (p.Lys1083Glu)
c.2920A>G (p.Lys974Glu)
c.2731A>G (p.Lys911Glu)
n.577-2026T>C
c.*3622-2026T>C (n.*3622-2026T>C)
c.3634A>G (p.Lys1212Glu)
c.2758A>G (p.Lys920Glu)
c.2107A>G (p.Lys703Glu)
c.1711A>G (p.Lys571Glu)
c.1453A>G (p.Lys485Glu)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.75028620A>TCA377291846DUSP29,KAT6Bc.3796A>T (p.Lys1266Ter)
c.3247A>T (p.Lys1083Ter)
c.2920A>T (p.Lys974Ter)
c.2731A>T (p.Lys911Ter)
n.577-2026T>A
c.*3622-2026T>A (n.*3622-2026T>A)
c.3634A>T (p.Lys1212Ter)
c.2758A>T (p.Lys920Ter)
c.2107A>T (p.Lys703Ter)
c.1711A>T (p.Lys571Ter)
c.1453A>T (p.Lys485Ter)
10g.75028621A>CCA377291856DUSP29,KAT6Bc.3797A>C (p.Lys1266Thr)
c.3248A>C (p.Lys1083Thr)
c.2921A>C (p.Lys974Thr)
c.2732A>C (p.Lys911Thr)
n.577-2027T>G
c.*3622-2027T>G (n.*3622-2027T>G)
c.3635A>C (p.Lys1212Thr)
c.2759A>C (p.Lys920Thr)
c.2108A>C (p.Lys703Thr)
c.1712A>C (p.Lys571Thr)
c.1454A>C (p.Lys485Thr)
10g.75028621A>GCA377291861DUSP29,KAT6Bc.3797A>G (p.Lys1266Arg)
c.3248A>G (p.Lys1083Arg)
c.2921A>G (p.Lys974Arg)
c.2732A>G (p.Lys911Arg)
n.577-2027T>C
c.*3622-2027T>C (n.*3622-2027T>C)
c.3635A>G (p.Lys1212Arg)
c.2759A>G (p.Lys920Arg)
c.2108A>G (p.Lys703Arg)
c.1712A>G (p.Lys571Arg)
c.1454A>G (p.Lys485Arg)
 gnomAD v4
10g.75028621A>TCA377291864DUSP29,KAT6Bc.3797A>T (p.Lys1266Met)
c.3248A>T (p.Lys1083Met)
c.2921A>T (p.Lys974Met)
c.2732A>T (p.Lys911Met)
n.577-2027T>A
c.*3622-2027T>A (n.*3622-2027T>A)
c.3635A>T (p.Lys1212Met)
c.2759A>T (p.Lys920Met)
c.2108A>T (p.Lys703Met)
c.1712A>T (p.Lys571Met)
c.1454A>T (p.Lys485Met)
10g.75028622G>ACA470299527DUSP29,KAT6Bc.3798G>A (p.Lys1266=)
c.3249G>A (p.Lys1083=)
c.2922G>A (p.Lys974=)
c.2733G>A (p.Lys911=)
n.577-2028C>T
c.*3622-2028C>T (n.*3622-2028C>T)
c.3636G>A (p.Lys1212=)
c.2760G>A (p.Lys920=)
c.2109G>A (p.Lys703=)
c.1713G>A (p.Lys571=)
c.1455G>A (p.Lys485=)
10g.75028622G>CCA377291868DUSP29,KAT6Bc.3798G>C (p.Lys1266Asn)
c.3249G>C (p.Lys1083Asn)
c.2922G>C (p.Lys974Asn)
c.2733G>C (p.Lys911Asn)
n.577-2028C>G
c.*3622-2028C>G (n.*3622-2028C>G)
c.3636G>C (p.Lys1212Asn)
c.2760G>C (p.Lys920Asn)
c.2109G>C (p.Lys703Asn)
c.1713G>C (p.Lys571Asn)
c.1455G>C (p.Lys485Asn)
 COSMIC
10g.75028622G>TCA377291871DUSP29,KAT6Bc.3798G>T (p.Lys1266Asn)
c.3249G>T (p.Lys1083Asn)
c.2922G>T (p.Lys974Asn)
c.2733G>T (p.Lys911Asn)
n.577-2028C>A
c.*3622-2028C>A (n.*3622-2028C>A)
c.3636G>T (p.Lys1212Asn)
c.2760G>T (p.Lys920Asn)
c.2109G>T (p.Lys703Asn)
c.1713G>T (p.Lys571Asn)
c.1455G>T (p.Lys485Asn)
10g.75028623A>CCA377291874DUSP29,KAT6Bc.3799A>C (p.Thr1267Pro)
c.3250A>C (p.Thr1084Pro)
c.2923A>C (p.Thr975Pro)
c.2734A>C (p.Thr912Pro)
n.577-2029T>G
c.*3622-2029T>G (n.*3622-2029T>G)
c.3637A>C (p.Thr1213Pro)
c.2761A>C (p.Thr921Pro)
c.2110A>C (p.Thr704Pro)
c.1714A>C (p.Thr572Pro)
c.1456A>C (p.Thr486Pro)
10g.75028623A>GCA377291878DUSP29,KAT6Bc.3799A>G (p.Thr1267Ala)
c.3250A>G (p.Thr1084Ala)
c.2923A>G (p.Thr975Ala)
c.2734A>G (p.Thr912Ala)
n.577-2029T>C
c.*3622-2029T>C (n.*3622-2029T>C)
c.3637A>G (p.Thr1213Ala)
c.2761A>G (p.Thr921Ala)
c.2110A>G (p.Thr704Ala)
c.1714A>G (p.Thr572Ala)
c.1456A>G (p.Thr486Ala)
10g.75028623A>TCA377291881DUSP29,KAT6Bc.3799A>T (p.Thr1267Ser)
c.3250A>T (p.Thr1084Ser)
c.2923A>T (p.Thr975Ser)
c.2734A>T (p.Thr912Ser)
n.577-2029T>A
c.*3622-2029T>A (n.*3622-2029T>A)
c.3637A>T (p.Thr1213Ser)
c.2761A>T (p.Thr921Ser)
c.2110A>T (p.Thr704Ser)
c.1714A>T (p.Thr572Ser)
c.1456A>T (p.Thr486Ser)
 gnomAD v4
10g.75028624C>ACA377291885DUSP29,KAT6Bc.3800C>A (p.Thr1267Asn)
c.3251C>A (p.Thr1084Asn)
c.2924C>A (p.Thr975Asn)
c.2735C>A (p.Thr912Asn)
n.577-2030G>T
c.*3622-2030G>T (n.*3622-2030G>T)
c.3638C>A (p.Thr1213Asn)
c.2762C>A (p.Thr921Asn)
c.2111C>A (p.Thr704Asn)
c.1715C>A (p.Thr572Asn)
c.1457C>A (p.Thr486Asn)
10g.75028624C=CA1920306405DUSP29,KAT6Bc.3800C= (p.Thr1267=)
c.3251C= (p.Thr1084=)
c.2924C= (p.Thr975=)
c.2735C= (p.Thr912=)
n.577-2030G=
c.*3622-2030G= (n.*3622-2030G=)
c.3638C= (p.Thr1213=)
c.2762C= (p.Thr921=)
c.2111C= (p.Thr704=)
c.1715C= (p.Thr572=)
c.1457C= (p.Thr486=)
10g.75028624C>GCA209709106DUSP29,KAT6Bc.3800C>G (p.Thr1267Ser)
c.3251C>G (p.Thr1084Ser)
c.2924C>G (p.Thr975Ser)
c.2735C>G (p.Thr912Ser)
n.577-2030G>C
c.*3622-2030G>C (n.*3622-2030G>C)
c.3638C>G (p.Thr1213Ser)
c.2762C>G (p.Thr921Ser)
c.2111C>G (p.Thr704Ser)
c.1715C>G (p.Thr572Ser)
c.1457C>G (p.Thr486Ser)
 dbSNP gnomAD v3 gnomAD v4
10g.75028624C>TCA377291891DUSP29,KAT6Bc.3800C>T (p.Thr1267Ile)
c.3251C>T (p.Thr1084Ile)
c.2924C>T (p.Thr975Ile)
c.2735C>T (p.Thr912Ile)
n.577-2030G>A
c.*3622-2030G>A (n.*3622-2030G>A)
c.3638C>T (p.Thr1213Ile)
c.2762C>T (p.Thr921Ile)
c.2111C>T (p.Thr704Ile)
c.1715C>T (p.Thr572Ile)
c.1457C>T (p.Thr486Ile)
10g.75028625C>ACA470299528DUSP29,KAT6Bc.3801C>A (p.Thr1267=)
c.3252C>A (p.Thr1084=)
c.2925C>A (p.Thr975=)
c.2736C>A (p.Thr912=)
n.577-2031G>T
c.*3622-2031G>T (n.*3622-2031G>T)
c.3639C>A (p.Thr1213=)
c.2763C>A (p.Thr921=)
c.2112C>A (p.Thr704=)
c.1716C>A (p.Thr572=)
c.1458C>A (p.Thr486=)
10g.75028625C=CA1920306406DUSP29,KAT6Bc.3801C= (p.Thr1267=)
c.3252C= (p.Thr1084=)
c.2925C= (p.Thr975=)
c.2736C= (p.Thr912=)
n.577-2031G=
c.*3622-2031G= (n.*3622-2031G=)
c.3639C= (p.Thr1213=)
c.2763C= (p.Thr921=)
c.2112C= (p.Thr704=)
c.1716C= (p.Thr572=)
c.1458C= (p.Thr486=)
10g.75028625C>GCA470299529DUSP29,KAT6Bc.3801C>G (p.Thr1267=)
c.3252C>G (p.Thr1084=)
c.2925C>G (p.Thr975=)
c.2736C>G (p.Thr912=)
n.577-2031G>C
c.*3622-2031G>C (n.*3622-2031G>C)
c.3639C>G (p.Thr1213=)
c.2763C>G (p.Thr921=)
c.2112C>G (p.Thr704=)
c.1716C>G (p.Thr572=)
c.1458C>G (p.Thr486=)
 dbSNP gnomAD v4
10g.75028625C>TCA5564908DUSP29,KAT6Bc.3801C>T (p.Thr1267=)
c.3252C>T (p.Thr1084=)
c.2925C>T (p.Thr975=)
c.2736C>T (p.Thr912=)
n.577-2031G>A
c.*3622-2031G>A (n.*3622-2031G>A)
c.3639C>T (p.Thr1213=)
c.2763C>T (p.Thr921=)
c.2112C>T (p.Thr704=)
c.1716C>T (p.Thr572=)
c.1458C>T (p.Thr486=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.75028626G>ACA5564909DUSP29,KAT6Bc.3802G>A (p.Gly1268Arg)
c.3253G>A (p.Gly1085Arg)
c.2926G>A (p.Gly976Arg)
c.2737G>A (p.Gly913Arg)
n.577-2032C>T
c.*3622-2032C>T (n.*3622-2032C>T)
c.3640G>A (p.Gly1214Arg)
c.2764G>A (p.Gly922Arg)
c.2113G>A (p.Gly705Arg)
c.1717G>A (p.Gly573Arg)
c.1459G>A (p.Gly487Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.75028626G>CCA377291900DUSP29,KAT6Bc.3802G>C (p.Gly1268Arg)
c.3253G>C (p.Gly1085Arg)
c.2926G>C (p.Gly976Arg)
c.2737G>C (p.Gly913Arg)
n.577-2032C>G
c.*3622-2032C>G (n.*3622-2032C>G)
c.3640G>C (p.Gly1214Arg)
c.2764G>C (p.Gly922Arg)
c.2113G>C (p.Gly705Arg)
c.1717G>C (p.Gly573Arg)
c.1459G>C (p.Gly487Arg)
10g.75028626G=CA1920306407DUSP29,KAT6Bc.3802G= (p.Gly1268=)
c.3253G= (p.Gly1085=)
c.2926G= (p.Gly976=)
c.2737G= (p.Gly913=)
n.577-2032C=
c.*3622-2032C= (n.*3622-2032C=)
c.3640G= (p.Gly1214=)
c.2764G= (p.Gly922=)
c.2113G= (p.Gly705=)
c.1717G= (p.Gly573=)
c.1459G= (p.Gly487=)
10g.75028626G>TCA129318DUSP29,KAT6Bc.3802G>T (p.Gly1268Ter)
c.3253G>T (p.Gly1085Ter)
c.2926G>T (p.Gly976Ter)
c.2737G>T (p.Gly913Ter)
n.577-2032C>A
c.*3622-2032C>A (n.*3622-2032C>A)
c.3640G>T (p.Gly1214Ter)
c.2764G>T (p.Gly922Ter)
c.2113G>T (p.Gly705Ter)
c.1717G>T (p.Gly573Ter)
c.1459G>T (p.Gly487Ter)
 ClinVar dbSNP
10g.75028627G>ACA377291905DUSP29,KAT6Bc.3803G>A (p.Gly1268Glu)
c.3254G>A (p.Gly1085Glu)
c.2927G>A (p.Gly976Glu)
c.2738G>A (p.Gly913Glu)
n.577-2033C>T
c.*3622-2033C>T (n.*3622-2033C>T)
c.3641G>A (p.Gly1214Glu)
c.2765G>A (p.Gly922Glu)
c.2114G>A (p.Gly705Glu)
c.1718G>A (p.Gly573Glu)
c.1460G>A (p.Gly487Glu)
 gnomAD v4
10g.75028627G>CCA377291907DUSP29,KAT6Bc.3803G>C (p.Gly1268Ala)
c.3254G>C (p.Gly1085Ala)
c.2927G>C (p.Gly976Ala)
c.2738G>C (p.Gly913Ala)
n.577-2033C>G
c.*3622-2033C>G (n.*3622-2033C>G)
c.3641G>C (p.Gly1214Ala)
c.2765G>C (p.Gly922Ala)
c.2114G>C (p.Gly705Ala)
c.1718G>C (p.Gly573Ala)
c.1460G>C (p.Gly487Ala)
 COSMIC
10g.75028627G>TCA377291916DUSP29,KAT6Bc.3803G>T (p.Gly1268Val)
c.3254G>T (p.Gly1085Val)
c.2927G>T (p.Gly976Val)
c.2738G>T (p.Gly913Val)
n.577-2033C>A
c.*3622-2033C>A (n.*3622-2033C>A)
c.3641G>T (p.Gly1214Val)
c.2765G>T (p.Gly922Val)
c.2114G>T (p.Gly705Val)
c.1718G>T (p.Gly573Val)
c.1460G>T (p.Gly487Val)
10g.75028628A>CCA470299530DUSP29,KAT6Bc.3804A>C (p.Gly1268=)
c.3255A>C (p.Gly1085=)
c.2928A>C (p.Gly976=)
c.2739A>C (p.Gly913=)
n.577-2034T>G
c.*3622-2034T>G (n.*3622-2034T>G)
c.3642A>C (p.Gly1214=)
c.2766A>C (p.Gly922=)
c.2115A>C (p.Gly705=)
c.1719A>C (p.Gly573=)
c.1461A>C (p.Gly487=)
10g.75028628A>GCA470299531DUSP29,KAT6Bc.3804A>G (p.Gly1268=)
c.3255A>G (p.Gly1085=)
c.2928A>G (p.Gly976=)
c.2739A>G (p.Gly913=)
n.577-2034T>C
c.*3622-2034T>C (n.*3622-2034T>C)
c.3642A>G (p.Gly1214=)
c.2766A>G (p.Gly922=)
c.2115A>G (p.Gly705=)
c.1719A>G (p.Gly573=)
c.1461A>G (p.Gly487=)
10g.75028628A>TCA470299532DUSP29,KAT6Bc.3804A>T (p.Gly1268=)
c.3255A>T (p.Gly1085=)
c.2928A>T (p.Gly976=)
c.2739A>T (p.Gly913=)
n.577-2034T>A
c.*3622-2034T>A (n.*3622-2034T>A)
c.3642A>T (p.Gly1214=)
c.2766A>T (p.Gly922=)
c.2115A>T (p.Gly705=)
c.1719A>T (p.Gly573=)
c.1461A>T (p.Gly487=)
10g.75028629T>ACA377291919DUSP29,KAT6Bc.3805T>A (p.Phe1269Ile)
c.3256T>A (p.Phe1086Ile)
c.2929T>A (p.Phe977Ile)
c.2740T>A (p.Phe914Ile)
n.577-2035A>T
c.*3622-2035A>T (n.*3622-2035A>T)
c.3643T>A (p.Phe1215Ile)
c.2767T>A (p.Phe923Ile)
c.2116T>A (p.Phe706Ile)
c.1720T>A (p.Phe574Ile)
c.1462T>A (p.Phe488Ile)
10g.75028629T>CCA377291922DUSP29,KAT6Bc.3805T>C (p.Phe1269Leu)
c.3256T>C (p.Phe1086Leu)
c.2929T>C (p.Phe977Leu)
c.2740T>C (p.Phe914Leu)
n.577-2035A>G
c.*3622-2035A>G (n.*3622-2035A>G)
c.3643T>C (p.Phe1215Leu)
c.2767T>C (p.Phe923Leu)
c.2116T>C (p.Phe706Leu)
c.1720T>C (p.Phe574Leu)
c.1462T>C (p.Phe488Leu)
 gnomAD v4
10g.75028629T>GCA5564910DUSP29,KAT6Bc.3805T>G (p.Phe1269Val)
c.3256T>G (p.Phe1086Val)
c.2929T>G (p.Phe977Val)
c.2740T>G (p.Phe914Val)
n.577-2035A>C
c.*3622-2035A>C (n.*3622-2035A>C)
c.3643T>G (p.Phe1215Val)
c.2767T>G (p.Phe923Val)
c.2116T>G (p.Phe706Val)
c.1720T>G (p.Phe574Val)
c.1462T>G (p.Phe488Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.75028629T=CA1920306408DUSP29,KAT6Bc.3805T= (p.Phe1269=)
c.3256T= (p.Phe1086=)
c.2929T= (p.Phe977=)
c.2740T= (p.Phe914=)
n.577-2035A=
c.*3622-2035A= (n.*3622-2035A=)
c.3643T= (p.Phe1215=)
c.2767T= (p.Phe923=)
c.2116T= (p.Phe706=)
c.1720T= (p.Phe574=)
c.1462T= (p.Phe488=)
10g.75028630T>ACA377291928DUSP29,KAT6Bc.3806T>A (p.Phe1269Tyr)
c.3257T>A (p.Phe1086Tyr)
c.2930T>A (p.Phe977Tyr)
c.2741T>A (p.Phe914Tyr)
n.577-2036A>T
c.*3622-2036A>T (n.*3622-2036A>T)
c.3644T>A (p.Phe1215Tyr)
c.2768T>A (p.Phe923Tyr)
c.2117T>A (p.Phe706Tyr)
c.1721T>A (p.Phe574Tyr)
c.1463T>A (p.Phe488Tyr)
10g.75028630T>CCA377291934DUSP29,KAT6Bc.3806T>C (p.Phe1269Ser)
c.3257T>C (p.Phe1086Ser)
c.2930T>C (p.Phe977Ser)
c.2741T>C (p.Phe914Ser)
n.577-2036A>G
c.*3622-2036A>G (n.*3622-2036A>G)
c.3644T>C (p.Phe1215Ser)
c.2768T>C (p.Phe923Ser)
c.2117T>C (p.Phe706Ser)
c.1721T>C (p.Phe574Ser)
c.1463T>C (p.Phe488Ser)
10g.75028630T>GCA377291931DUSP29,KAT6Bc.3806T>G (p.Phe1269Cys)
c.3257T>G (p.Phe1086Cys)
c.2930T>G (p.Phe977Cys)
c.2741T>G (p.Phe914Cys)
n.577-2036A>C
c.*3622-2036A>C (n.*3622-2036A>C)
c.3644T>G (p.Phe1215Cys)
c.2768T>G (p.Phe923Cys)
c.2117T>G (p.Phe706Cys)
c.1721T>G (p.Phe574Cys)
c.1463T>G (p.Phe488Cys)
10g.75028631T>ACA377291938DUSP29,KAT6Bc.3807T>A (p.Phe1269Leu)
c.3258T>A (p.Phe1086Leu)
c.2931T>A (p.Phe977Leu)
c.2742T>A (p.Phe914Leu)
n.577-2037A>T
c.*3622-2037A>T (n.*3622-2037A>T)
c.3645T>A (p.Phe1215Leu)
c.2769T>A (p.Phe923Leu)
c.2118T>A (p.Phe706Leu)
c.1722T>A (p.Phe574Leu)
c.1464T>A (p.Phe488Leu)
10g.75028631T>CCA470299533DUSP29,KAT6Bc.3807T>C (p.Phe1269=)
c.3258T>C (p.Phe1086=)
c.2931T>C (p.Phe977=)
c.2742T>C (p.Phe914=)
n.577-2037A>G
c.*3622-2037A>G (n.*3622-2037A>G)
c.3645T>C (p.Phe1215=)
c.2769T>C (p.Phe923=)
c.2118T>C (p.Phe706=)
c.1722T>C (p.Phe574=)
c.1464T>C (p.Phe488=)
 dbSNP
10g.75028631T>GCA377291940DUSP29,KAT6Bc.3807T>G (p.Phe1269Leu)
c.3258T>G (p.Phe1086Leu)
c.2931T>G (p.Phe977Leu)
c.2742T>G (p.Phe914Leu)
n.577-2037A>C
c.*3622-2037A>C (n.*3622-2037A>C)
c.3645T>G (p.Phe1215Leu)
c.2769T>G (p.Phe923Leu)
c.2118T>G (p.Phe706Leu)
c.1722T>G (p.Phe574Leu)
c.1464T>G (p.Phe488Leu)
10g.75028632A>CCA377291943DUSP29,KAT6Bc.3808A>C (p.Lys1270Gln)
c.3259A>C (p.Lys1087Gln)
c.2932A>C (p.Lys978Gln)
c.2743A>C (p.Lys915Gln)
n.577-2038T>G
c.*3622-2038T>G (n.*3622-2038T>G)
c.3646A>C (p.Lys1216Gln)
c.2770A>C (p.Lys924Gln)
c.2119A>C (p.Lys707Gln)
c.1723A>C (p.Lys575Gln)
c.1465A>C (p.Lys489Gln)
10g.75028632A>GCA377291945DUSP29,KAT6Bc.3808A>G (p.Lys1270Glu)
c.3259A>G (p.Lys1087Glu)
c.2932A>G (p.Lys978Glu)
c.2743A>G (p.Lys915Glu)
n.577-2038T>C
c.*3622-2038T>C (n.*3622-2038T>C)
c.3646A>G (p.Lys1216Glu)
c.2770A>G (p.Lys924Glu)
c.2119A>G (p.Lys707Glu)
c.1723A>G (p.Lys575Glu)
c.1465A>G (p.Lys489Glu)
10g.75028632A>TCA377291947DUSP29,KAT6Bc.3808A>T (p.Lys1270Ter)
c.3259A>T (p.Lys1087Ter)
c.2932A>T (p.Lys978Ter)
c.2743A>T (p.Lys915Ter)
n.577-2038T>A
c.*3622-2038T>A (n.*3622-2038T>A)
c.3646A>T (p.Lys1216Ter)
c.2770A>T (p.Lys924Ter)
c.2119A>T (p.Lys707Ter)
c.1723A>T (p.Lys575Ter)
c.1465A>T (p.Lys489Ter)
10g.75028633A>CCA377291957DUSP29,KAT6Bc.3809A>C (p.Lys1270Thr)
c.3260A>C (p.Lys1087Thr)
c.2933A>C (p.Lys978Thr)
c.2744A>C (p.Lys915Thr)
n.577-2039T>G
c.*3622-2039T>G (n.*3622-2039T>G)
c.3647A>C (p.Lys1216Thr)
c.2771A>C (p.Lys924Thr)
c.2120A>C (p.Lys707Thr)
c.1724A>C (p.Lys575Thr)
c.1466A>C (p.Lys489Thr)
10g.75028633A>GCA377291954DUSP29,KAT6Bc.3809A>G (p.Lys1270Arg)
c.3260A>G (p.Lys1087Arg)
c.2933A>G (p.Lys978Arg)
c.2744A>G (p.Lys915Arg)
n.577-2039T>C
c.*3622-2039T>C (n.*3622-2039T>C)
c.3647A>G (p.Lys1216Arg)
c.2771A>G (p.Lys924Arg)
c.2120A>G (p.Lys707Arg)
c.1724A>G (p.Lys575Arg)
c.1466A>G (p.Lys489Arg)
10g.75028633A>TCA377291953DUSP29,KAT6Bc.3809A>T (p.Lys1270Ile)
c.3260A>T (p.Lys1087Ile)
c.2933A>T (p.Lys978Ile)
c.2744A>T (p.Lys915Ile)
n.577-2039T>A
c.*3622-2039T>A (n.*3622-2039T>A)
c.3647A>T (p.Lys1216Ile)
c.2771A>T (p.Lys924Ile)
c.2120A>T (p.Lys707Ile)
c.1724A>T (p.Lys575Ile)
c.1466A>T (p.Lys489Ile)
10g.75028634A>CCA377291960DUSP29,KAT6Bc.3810A>C (p.Lys1270Asn)
c.3261A>C (p.Lys1087Asn)
c.2934A>C (p.Lys978Asn)
c.2745A>C (p.Lys915Asn)
n.577-2040T>G
c.*3622-2040T>G (n.*3622-2040T>G)
c.3648A>C (p.Lys1216Asn)
c.2772A>C (p.Lys924Asn)
c.2121A>C (p.Lys707Asn)
c.1725A>C (p.Lys575Asn)
c.1467A>C (p.Lys489Asn)
10g.75028634A>GCA470299539DUSP29,KAT6Bc.3810A>G (p.Lys1270=)
c.3261A>G (p.Lys1087=)
c.2934A>G (p.Lys978=)
c.2745A>G (p.Lys915=)
n.577-2040T>C
c.*3622-2040T>C (n.*3622-2040T>C)
c.3648A>G (p.Lys1216=)
c.2772A>G (p.Lys924=)
c.2121A>G (p.Lys707=)
c.1725A>G (p.Lys575=)
c.1467A>G (p.Lys489=)
10g.75028634A>TCA377291963DUSP29,KAT6Bc.3810A>T (p.Lys1270Asn)
c.3261A>T (p.Lys1087Asn)
c.2934A>T (p.Lys978Asn)
c.2745A>T (p.Lys915Asn)
n.577-2040T>A
c.*3622-2040T>A (n.*3622-2040T>A)
c.3648A>T (p.Lys1216Asn)
c.2772A>T (p.Lys924Asn)
c.2121A>T (p.Lys707Asn)
c.1725A>T (p.Lys575Asn)
c.1467A>T (p.Lys489Asn)
10g.75028635C>ACA377291966DUSP29,KAT6Bc.3811C>A (p.Leu1271Met)
c.3262C>A (p.Leu1088Met)
c.2935C>A (p.Leu979Met)
c.2746C>A (p.Leu916Met)
n.577-2041G>T
c.*3622-2041G>T (n.*3622-2041G>T)
c.3649C>A (p.Leu1217Met)
c.2773C>A (p.Leu925Met)
c.2122C>A (p.Leu708Met)
c.1726C>A (p.Leu576Met)
c.1468C>A (p.Leu490Met)
10g.75028635C=CA1920306409DUSP29,KAT6Bc.3811C= (p.Leu1271=)
c.3262C= (p.Leu1088=)
c.2935C= (p.Leu979=)
c.2746C= (p.Leu916=)
n.577-2041G=
c.*3622-2041G= (n.*3622-2041G=)
c.3649C= (p.Leu1217=)
c.2773C= (p.Leu925=)
c.2122C= (p.Leu708=)
c.1726C= (p.Leu576=)
c.1468C= (p.Leu490=)
10g.75028635C>GCA377291969DUSP29,KAT6Bc.3811C>G (p.Leu1271Val)
c.3262C>G (p.Leu1088Val)
c.2935C>G (p.Leu979Val)
c.2746C>G (p.Leu916Val)
n.577-2041G>C
c.*3622-2041G>C (n.*3622-2041G>C)
c.3649C>G (p.Leu1217Val)
c.2773C>G (p.Leu925Val)
c.2122C>G (p.Leu708Val)
c.1726C>G (p.Leu576Val)
c.1468C>G (p.Leu490Val)
10g.75028635C>TCA470299540DUSP29,KAT6Bc.3811C>T (p.Leu1271=)
c.3262C>T (p.Leu1088=)
c.2935C>T (p.Leu979=)
c.2746C>T (p.Leu916=)
n.577-2041G>A
c.*3622-2041G>A (n.*3622-2041G>A)
c.3649C>T (p.Leu1217=)
c.2773C>T (p.Leu925=)
c.2122C>T (p.Leu708=)
c.1726C>T (p.Leu576=)
c.1468C>T (p.Leu490=)
 dbSNP gnomAD v2 gnomAD v4
10g.75028636T>ACA377291972DUSP29,KAT6Bc.3812T>A (p.Leu1271Gln)
c.3263T>A (p.Leu1088Gln)
c.2936T>A (p.Leu979Gln)
c.2747T>A (p.Leu916Gln)
n.577-2042A>T
c.*3622-2042A>T (n.*3622-2042A>T)
c.3650T>A (p.Leu1217Gln)
c.2774T>A (p.Leu925Gln)
c.2123T>A (p.Leu708Gln)
c.1727T>A (p.Leu576Gln)
c.1469T>A (p.Leu490Gln)
10g.75028636T>CCA377291975DUSP29,KAT6Bc.3812T>C (p.Leu1271Pro)
c.3263T>C (p.Leu1088Pro)
c.2936T>C (p.Leu979Pro)
c.2747T>C (p.Leu916Pro)
n.577-2042A>G
c.*3622-2042A>G (n.*3622-2042A>G)
c.3650T>C (p.Leu1217Pro)
c.2774T>C (p.Leu925Pro)
c.2123T>C (p.Leu708Pro)
c.1727T>C (p.Leu576Pro)
c.1469T>C (p.Leu490Pro)
10g.75028636T>GCA377291978DUSP29,KAT6Bc.3812T>G (p.Leu1271Arg)
c.3263T>G (p.Leu1088Arg)
c.2936T>G (p.Leu979Arg)
c.2747T>G (p.Leu916Arg)
n.577-2042A>C
c.*3622-2042A>C (n.*3622-2042A>C)
c.3650T>G (p.Leu1217Arg)
c.2774T>G (p.Leu925Arg)
c.2123T>G (p.Leu708Arg)
c.1727T>G (p.Leu576Arg)
c.1469T>G (p.Leu490Arg)
10g.75028637G>ACA470299541DUSP29,KAT6Bc.3813G>A (p.Leu1271=)
c.3264G>A (p.Leu1088=)
c.2937G>A (p.Leu979=)
c.2748G>A (p.Leu916=)
n.577-2043C>T
c.*3622-2043C>T (n.*3622-2043C>T)
c.3651G>A (p.Leu1217=)
c.2775G>A (p.Leu925=)
c.2124G>A (p.Leu708=)
c.1728G>A (p.Leu576=)
c.1470G>A (p.Leu490=)
10g.75028637G>CCA470299542DUSP29,KAT6Bc.3813G>C (p.Leu1271=)
c.3264G>C (p.Leu1088=)
c.2937G>C (p.Leu979=)
c.2748G>C (p.Leu916=)
n.577-2043C>G
c.*3622-2043C>G (n.*3622-2043C>G)
c.3651G>C (p.Leu1217=)
c.2775G>C (p.Leu925=)
c.2124G>C (p.Leu708=)
c.1728G>C (p.Leu576=)
c.1470G>C (p.Leu490=)
10g.75028637G>TCA470299543DUSP29,KAT6Bc.3813G>T (p.Leu1271=)
c.3264G>T (p.Leu1088=)
c.2937G>T (p.Leu979=)
c.2748G>T (p.Leu916=)
n.577-2043C>A
c.*3622-2043C>A (n.*3622-2043C>A)
c.3651G>T (p.Leu1217=)
c.2775G>T (p.Leu925=)
c.2124G>T (p.Leu708=)
c.1728G>T (p.Leu576=)
c.1470G>T (p.Leu490=)
10g.75028638A>CCA377291982DUSP29,KAT6Bc.3814A>C (p.Asn1272His)
c.3265A>C (p.Asn1089His)
c.2938A>C (p.Asn980His)
c.2749A>C (p.Asn917His)
n.577-2044T>G
c.*3622-2044T>G (n.*3622-2044T>G)
c.3652A>C (p.Asn1218His)
c.2776A>C (p.Asn926His)
c.2125A>C (p.Asn709His)
c.1729A>C (p.Asn577His)
c.1471A>C (p.Asn491His)
10g.75028638A>GCA377291985DUSP29,KAT6Bc.3814A>G (p.Asn1272Asp)
c.3265A>G (p.Asn1089Asp)
c.2938A>G (p.Asn980Asp)
c.2749A>G (p.Asn917Asp)
n.577-2044T>C
c.*3622-2044T>C (n.*3622-2044T>C)
c.3652A>G (p.Asn1218Asp)
c.2776A>G (p.Asn926Asp)
c.2125A>G (p.Asn709Asp)
c.1729A>G (p.Asn577Asp)
c.1471A>G (p.Asn491Asp)
10g.75028638A>TCA377291988DUSP29,KAT6Bc.3814A>T (p.Asn1272Tyr)
c.3265A>T (p.Asn1089Tyr)
c.2938A>T (p.Asn980Tyr)
c.2749A>T (p.Asn917Tyr)
n.577-2044T>A
c.*3622-2044T>A (n.*3622-2044T>A)
c.3652A>T (p.Asn1218Tyr)
c.2776A>T (p.Asn926Tyr)
c.2125A>T (p.Asn709Tyr)
c.1729A>T (p.Asn577Tyr)
c.1471A>T (p.Asn491Tyr)
10g.75028639A>CCA377291992DUSP29,KAT6Bc.3815A>C (p.Asn1272Thr)
c.3266A>C (p.Asn1089Thr)
c.2939A>C (p.Asn980Thr)
c.2750A>C (p.Asn917Thr)
n.577-2045T>G
c.*3622-2045T>G (n.*3622-2045T>G)
c.3653A>C (p.Asn1218Thr)
c.2777A>C (p.Asn926Thr)
c.2126A>C (p.Asn709Thr)
c.1730A>C (p.Asn577Thr)
c.1472A>C (p.Asn491Thr)
10g.75028639A>GCA377291994DUSP29,KAT6Bc.3815A>G (p.Asn1272Ser)
c.3266A>G (p.Asn1089Ser)
c.2939A>G (p.Asn980Ser)
c.2750A>G (p.Asn917Ser)
n.577-2045T>C
c.*3622-2045T>C (n.*3622-2045T>C)
c.3653A>G (p.Asn1218Ser)
c.2777A>G (p.Asn926Ser)
c.2126A>G (p.Asn709Ser)
c.1730A>G (p.Asn577Ser)
c.1472A>G (p.Asn491Ser)
10g.75028639A>TCA377291997DUSP29,KAT6Bc.3815A>T (p.Asn1272Ile)
c.3266A>T (p.Asn1089Ile)
c.2939A>T (p.Asn980Ile)
c.2750A>T (p.Asn917Ile)
n.577-2045T>A
c.*3622-2045T>A (n.*3622-2045T>A)
c.3653A>T (p.Asn1218Ile)
c.2777A>T (p.Asn926Ile)
c.2126A>T (p.Asn709Ile)
c.1730A>T (p.Asn577Ile)
c.1472A>T (p.Asn491Ile)
10g.75028640T>ACA377292000DUSP29,KAT6Bc.3816T>A (p.Asn1272Lys)
c.3267T>A (p.Asn1089Lys)
c.2940T>A (p.Asn980Lys)
c.2751T>A (p.Asn917Lys)
n.577-2046A>T
c.*3622-2046A>T (n.*3622-2046A>T)
c.3654T>A (p.Asn1218Lys)
c.2778T>A (p.Asn926Lys)
c.2127T>A (p.Asn709Lys)
c.1731T>A (p.Asn577Lys)
c.1473T>A (p.Asn491Lys)
10g.75028640T>CCA470299544DUSP29,KAT6Bc.3816T>C (p.Asn1272=)
c.3267T>C (p.Asn1089=)
c.2940T>C (p.Asn980=)
c.2751T>C (p.Asn917=)
n.577-2046A>G
c.*3622-2046A>G (n.*3622-2046A>G)
c.3654T>C (p.Asn1218=)
c.2778T>C (p.Asn926=)
c.2127T>C (p.Asn709=)
c.1731T>C (p.Asn577=)
c.1473T>C (p.Asn491=)
 gnomAD v4
10g.75028640T>GCA377292003DUSP29,KAT6Bc.3816T>G (p.Asn1272Lys)
c.3267T>G (p.Asn1089Lys)
c.2940T>G (p.Asn980Lys)
c.2751T>G (p.Asn917Lys)
n.577-2046A>C
c.*3622-2046A>C (n.*3622-2046A>C)
c.3654T>G (p.Asn1218Lys)
c.2778T>G (p.Asn926Lys)
c.2127T>G (p.Asn709Lys)
c.1731T>G (p.Asn577Lys)
c.1473T>G (p.Asn491Lys)
10g.75028641T>ACA377292006DUSP29,KAT6Bc.3817T>A (p.Leu1273Met)
c.3268T>A (p.Leu1090Met)
c.2941T>A (p.Leu981Met)
c.2752T>A (p.Leu918Met)
n.577-2047A>T
c.*3622-2047A>T (n.*3622-2047A>T)
c.3655T>A (p.Leu1219Met)
c.2779T>A (p.Leu927Met)
c.2128T>A (p.Leu710Met)
c.1732T>A (p.Leu578Met)
c.1474T>A (p.Leu492Met)
10g.75028641T>CCA470299545DUSP29,KAT6Bc.3817T>C (p.Leu1273=)
c.3268T>C (p.Leu1090=)
c.2941T>C (p.Leu981=)
c.2752T>C (p.Leu918=)
n.577-2047A>G
c.*3622-2047A>G (n.*3622-2047A>G)
c.3655T>C (p.Leu1219=)
c.2779T>C (p.Leu927=)
c.2128T>C (p.Leu710=)
c.1732T>C (p.Leu578=)
c.1474T>C (p.Leu492=)
10g.75028641T>GCA377292008DUSP29,KAT6Bc.3817T>G (p.Leu1273Val)
c.3268T>G (p.Leu1090Val)
c.2941T>G (p.Leu981Val)
c.2752T>G (p.Leu918Val)
n.577-2047A>C
c.*3622-2047A>C (n.*3622-2047A>C)
c.3655T>G (p.Leu1219Val)
c.2779T>G (p.Leu927Val)
c.2128T>G (p.Leu710Val)
c.1732T>G (p.Leu578Val)
c.1474T>G (p.Leu492Val)
10g.75028642T>ACA377292012DUSP29,KAT6Bc.3818T>A (p.Leu1273Ter)
c.3269T>A (p.Leu1090Ter)
c.2942T>A (p.Leu981Ter)
c.2753T>A (p.Leu918Ter)
n.577-2048A>T
c.*3622-2048A>T (n.*3622-2048A>T)
c.3656T>A (p.Leu1219Ter)
c.2780T>A (p.Leu927Ter)
c.2129T>A (p.Leu710Ter)
c.1733T>A (p.Leu578Ter)
c.1475T>A (p.Leu492Ter)
10g.75028642T>CCA377292018DUSP29,KAT6Bc.3818T>C (p.Leu1273Ser)
c.3269T>C (p.Leu1090Ser)
c.2942T>C (p.Leu981Ser)
c.2753T>C (p.Leu918Ser)
n.577-2048A>G
c.*3622-2048A>G (n.*3622-2048A>G)
c.3656T>C (p.Leu1219Ser)
c.2780T>C (p.Leu927Ser)
c.2129T>C (p.Leu710Ser)
c.1733T>C (p.Leu578Ser)
c.1475T>C (p.Leu492Ser)
10g.75028642T>GCA377292014DUSP29,KAT6Bc.3818T>G (p.Leu1273Trp)
c.3269T>G (p.Leu1090Trp)
c.2942T>G (p.Leu981Trp)
c.2753T>G (p.Leu918Trp)
n.577-2048A>C
c.*3622-2048A>C (n.*3622-2048A>C)
c.3656T>G (p.Leu1219Trp)
c.2780T>G (p.Leu927Trp)
c.2129T>G (p.Leu710Trp)
c.1733T>G (p.Leu578Trp)
c.1475T>G (p.Leu492Trp)
10g.75028643G>ACA470299546DUSP29,KAT6Bc.3819G>A (p.Leu1273=)
c.3270G>A (p.Leu1090=)
c.2943G>A (p.Leu981=)
c.2754G>A (p.Leu918=)
n.577-2049C>T
c.*3622-2049C>T (n.*3622-2049C>T)
c.3657G>A (p.Leu1219=)
c.2781G>A (p.Leu927=)
c.2130G>A (p.Leu710=)
c.1734G>A (p.Leu578=)
c.1476G>A (p.Leu492=)
10g.75028643G>CCA377292021DUSP29,KAT6Bc.3819G>C (p.Leu1273Phe)
c.3270G>C (p.Leu1090Phe)
c.2943G>C (p.Leu981Phe)
c.2754G>C (p.Leu918Phe)
n.577-2049C>G
c.*3622-2049C>G (n.*3622-2049C>G)
c.3657G>C (p.Leu1219Phe)
c.2781G>C (p.Leu927Phe)
c.2130G>C (p.Leu710Phe)
c.1734G>C (p.Leu578Phe)
c.1476G>C (p.Leu492Phe)
10g.75028643G>TCA377292025DUSP29,KAT6Bc.3819G>T (p.Leu1273Phe)
c.3270G>T (p.Leu1090Phe)
c.2943G>T (p.Leu981Phe)
c.2754G>T (p.Leu918Phe)
n.577-2049C>A
c.*3622-2049C>A (n.*3622-2049C>A)
c.3657G>T (p.Leu1219Phe)
c.2781G>T (p.Leu927Phe)
c.2130G>T (p.Leu710Phe)
c.1734G>T (p.Leu578Phe)
c.1476G>T (p.Leu492Phe)
10g.75028644T>ACA377292028DUSP29,KAT6Bc.3820T>A (p.Tyr1274Asn)
c.3271T>A (p.Tyr1091Asn)
c.2944T>A (p.Tyr982Asn)
c.2755T>A (p.Tyr919Asn)
n.577-2050A>T
c.*3622-2050A>T (n.*3622-2050A>T)
c.3658T>A (p.Tyr1220Asn)
c.2782T>A (p.Tyr928Asn)
c.2131T>A (p.Tyr711Asn)
c.1735T>A (p.Tyr579Asn)
c.1477T>A (p.Tyr493Asn)
10g.75028644T>CCA377292031DUSP29,KAT6Bc.3820T>C (p.Tyr1274His)
c.3271T>C (p.Tyr1091His)
c.2944T>C (p.Tyr982His)
c.2755T>C (p.Tyr919His)
n.577-2050A>G
c.*3622-2050A>G (n.*3622-2050A>G)
c.3658T>C (p.Tyr1220His)
c.2782T>C (p.Tyr928His)
c.2131T>C (p.Tyr711His)
c.1735T>C (p.Tyr579His)
c.1477T>C (p.Tyr493His)
 gnomAD v4
10g.75028644T>GCA377292034DUSP29,KAT6Bc.3820T>G (p.Tyr1274Asp)
c.3271T>G (p.Tyr1091Asp)
c.2944T>G (p.Tyr982Asp)
c.2755T>G (p.Tyr919Asp)
n.577-2050A>C
c.*3622-2050A>C (n.*3622-2050A>C)
c.3658T>G (p.Tyr1220Asp)
c.2782T>G (p.Tyr928Asp)
c.2131T>G (p.Tyr711Asp)
c.1735T>G (p.Tyr579Asp)
c.1477T>G (p.Tyr493Asp)
10g.75028645A=CA1920306410DUSP29,KAT6Bc.3821A= (p.Tyr1274=)
c.3272A= (p.Tyr1091=)
c.2945A= (p.Tyr982=)
c.2756A= (p.Tyr919=)
n.577-2051T=
c.*3622-2051T= (n.*3622-2051T=)
c.3659A= (p.Tyr1220=)
c.2783A= (p.Tyr928=)
c.2132A= (p.Tyr711=)
c.1736A= (p.Tyr579=)
c.1478A= (p.Tyr493=)
10g.75028645A>CCA377292038DUSP29,KAT6Bc.3821A>C (p.Tyr1274Ser)
c.3272A>C (p.Tyr1091Ser)
c.2945A>C (p.Tyr982Ser)
c.2756A>C (p.Tyr919Ser)
n.577-2051T>G
c.*3622-2051T>G (n.*3622-2051T>G)
c.3659A>C (p.Tyr1220Ser)
c.2783A>C (p.Tyr928Ser)
c.2132A>C (p.Tyr711Ser)
c.1736A>C (p.Tyr579Ser)
c.1478A>C (p.Tyr493Ser)
10g.75028645A>GCA209709127DUSP29,KAT6Bc.3821A>G (p.Tyr1274Cys)
c.3272A>G (p.Tyr1091Cys)
c.2945A>G (p.Tyr982Cys)
c.2756A>G (p.Tyr919Cys)
n.577-2051T>C
c.*3622-2051T>C (n.*3622-2051T>C)
c.3659A>G (p.Tyr1220Cys)
c.2783A>G (p.Tyr928Cys)
c.2132A>G (p.Tyr711Cys)
c.1736A>G (p.Tyr579Cys)
c.1478A>G (p.Tyr493Cys)
 dbSNP
10g.75028645A>TCA377292041DUSP29,KAT6Bc.3821A>T (p.Tyr1274Phe)
c.3272A>T (p.Tyr1091Phe)
c.2945A>T (p.Tyr982Phe)
c.2756A>T (p.Tyr919Phe)
n.577-2051T>A
c.*3622-2051T>A (n.*3622-2051T>A)
c.3659A>T (p.Tyr1220Phe)
c.2783A>T (p.Tyr928Phe)
c.2132A>T (p.Tyr711Phe)
c.1736A>T (p.Tyr579Phe)
c.1478A>T (p.Tyr493Phe)
10g.75028646C>ACA377292048DUSP29,KAT6Bc.3822C>A (p.Tyr1274Ter)
c.3273C>A (p.Tyr1091Ter)
c.2946C>A (p.Tyr982Ter)
c.2757C>A (p.Tyr919Ter)
n.577-2052G>T
c.*3622-2052G>T (n.*3622-2052G>T)
c.3660C>A (p.Tyr1220Ter)
c.2784C>A (p.Tyr928Ter)
c.2133C>A (p.Tyr711Ter)
c.1737C>A (p.Tyr579Ter)
c.1479C>A (p.Tyr493Ter)
10g.75028646C>GCA377292050DUSP29,KAT6Bc.3822C>G (p.Tyr1274Ter)
c.3273C>G (p.Tyr1091Ter)
c.2946C>G (p.Tyr982Ter)
c.2757C>G (p.Tyr919Ter)
n.577-2052G>C
c.*3622-2052G>C (n.*3622-2052G>C)
c.3660C>G (p.Tyr1220Ter)
c.2784C>G (p.Tyr928Ter)
c.2133C>G (p.Tyr711Ter)
c.1737C>G (p.Tyr579Ter)
c.1479C>G (p.Tyr493Ter)
10g.75028646C>TCA470299547DUSP29,KAT6Bc.3822C>T (p.Tyr1274=)
c.3273C>T (p.Tyr1091=)
c.2946C>T (p.Tyr982=)
c.2757C>T (p.Tyr919=)
n.577-2052G>A
c.*3622-2052G>A (n.*3622-2052G>A)
c.3660C>T (p.Tyr1220=)
c.2784C>T (p.Tyr928=)
c.2133C>T (p.Tyr711=)
c.1737C>T (p.Tyr579=)
c.1479C>T (p.Tyr493=)
10g.75028647A=CA1920306411DUSP29,KAT6Bc.3823A= (p.Thr1275=)
c.3274A= (p.Thr1092=)
c.2947A= (p.Thr983=)
c.2758A= (p.Thr920=)
n.577-2053T=
c.*3622-2053T= (n.*3622-2053T=)
c.3661A= (p.Thr1221=)
c.2785A= (p.Thr929=)
c.2134A= (p.Thr712=)
c.1738A= (p.Thr580=)
c.1480A= (p.Thr494=)
10g.75028647A>CCA377292059DUSP29,KAT6Bc.3823A>C (p.Thr1275Pro)
c.3274A>C (p.Thr1092Pro)
c.2947A>C (p.Thr983Pro)
c.2758A>C (p.Thr920Pro)
n.577-2053T>G
c.*3622-2053T>G (n.*3622-2053T>G)
c.3661A>C (p.Thr1221Pro)
c.2785A>C (p.Thr929Pro)
c.2134A>C (p.Thr712Pro)
c.1738A>C (p.Thr580Pro)
c.1480A>C (p.Thr494Pro)
 dbSNP
10g.75028647A>GCA377292057DUSP29,KAT6Bc.3823A>G (p.Thr1275Ala)
c.3274A>G (p.Thr1092Ala)
c.2947A>G (p.Thr983Ala)
c.2758A>G (p.Thr920Ala)
n.577-2053T>C
c.*3622-2053T>C (n.*3622-2053T>C)
c.3661A>G (p.Thr1221Ala)
c.2785A>G (p.Thr929Ala)
c.2134A>G (p.Thr712Ala)
c.1738A>G (p.Thr580Ala)
c.1480A>G (p.Thr494Ala)
10g.75028647A>TCA377292055DUSP29,KAT6Bc.3823A>T (p.Thr1275Ser)
c.3274A>T (p.Thr1092Ser)
c.2947A>T (p.Thr983Ser)
c.2758A>T (p.Thr920Ser)
n.577-2053T>A
c.*3622-2053T>A (n.*3622-2053T>A)
c.3661A>T (p.Thr1221Ser)
c.2785A>T (p.Thr929Ser)
c.2134A>T (p.Thr712Ser)
c.1738A>T (p.Thr580Ser)
c.1480A>T (p.Thr494Ser)
10g.75028648C>ACA377292068DUSP29,KAT6Bc.3824C>A (p.Thr1275Asn)
c.3275C>A (p.Thr1092Asn)
c.2948C>A (p.Thr983Asn)
c.2759C>A (p.Thr920Asn)
n.577-2054G>T
c.*3622-2054G>T (n.*3622-2054G>T)
c.3662C>A (p.Thr1221Asn)
c.2786C>A (p.Thr929Asn)
c.2135C>A (p.Thr712Asn)
c.1739C>A (p.Thr580Asn)
c.1481C>A (p.Thr494Asn)
 gnomAD v4
10g.75028648C=CA1920306412DUSP29,KAT6Bc.3824C= (p.Thr1275=)
c.3275C= (p.Thr1092=)
c.2948C= (p.Thr983=)
c.2759C= (p.Thr920=)
n.577-2054G=
c.*3622-2054G= (n.*3622-2054G=)
c.3662C= (p.Thr1221=)
c.2786C= (p.Thr929=)
c.2135C= (p.Thr712=)
c.1739C= (p.Thr580=)
c.1481C= (p.Thr494=)
10g.75028648C>GCA377292070DUSP29,KAT6Bc.3824C>G (p.Thr1275Ser)
c.3275C>G (p.Thr1092Ser)
c.2948C>G (p.Thr983Ser)
c.2759C>G (p.Thr920Ser)
n.577-2054G>C
c.*3622-2054G>C (n.*3622-2054G>C)
c.3662C>G (p.Thr1221Ser)
c.2786C>G (p.Thr929Ser)
c.2135C>G (p.Thr712Ser)
c.1739C>G (p.Thr580Ser)
c.1481C>G (p.Thr494Ser)
10g.75028648C>TCA5564911DUSP29,KAT6Bc.3824C>T (p.Thr1275Ile)
c.3275C>T (p.Thr1092Ile)
c.2948C>T (p.Thr983Ile)
c.2759C>T (p.Thr920Ile)
n.577-2054G>A
c.*3622-2054G>A (n.*3622-2054G>A)
c.3662C>T (p.Thr1221Ile)
c.2786C>T (p.Thr929Ile)
c.2135C>T (p.Thr712Ile)
c.1739C>T (p.Thr580Ile)
c.1481C>T (p.Thr494Ile)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.75028649C>ACA470299548DUSP29,KAT6Bc.3825C>A (p.Thr1275=)
c.3276C>A (p.Thr1092=)
c.2949C>A (p.Thr983=)
c.2760C>A (p.Thr920=)
n.577-2055G>T
c.*3622-2055G>T (n.*3622-2055G>T)
c.3663C>A (p.Thr1221=)
c.2787C>A (p.Thr929=)
c.2136C>A (p.Thr712=)
c.1740C>A (p.Thr580=)
c.1482C>A (p.Thr494=)
10g.75028649C>GCA470299549DUSP29,KAT6Bc.3825C>G (p.Thr1275=)
c.3276C>G (p.Thr1092=)
c.2949C>G (p.Thr983=)
c.2760C>G (p.Thr920=)
n.577-2055G>C
c.*3622-2055G>C (n.*3622-2055G>C)
c.3663C>G (p.Thr1221=)
c.2787C>G (p.Thr929=)
c.2136C>G (p.Thr712=)
c.1740C>G (p.Thr580=)
c.1482C>G (p.Thr494=)
 gnomAD v4
10g.75028649C>TCA470299550DUSP29,KAT6Bc.3825C>T (p.Thr1275=)
c.3276C>T (p.Thr1092=)
c.2949C>T (p.Thr983=)
c.2760C>T (p.Thr920=)
n.577-2055G>A
c.*3622-2055G>A (n.*3622-2055G>A)
c.3663C>T (p.Thr1221=)
c.2787C>T (p.Thr929=)
c.2136C>T (p.Thr712=)
c.1740C>T (p.Thr580=)
c.1482C>T (p.Thr494=)
10g.75028650C>ACA377292076DUSP29,KAT6Bc.3826C>A (p.Pro1276Thr)
c.3277C>A (p.Pro1093Thr)
c.2950C>A (p.Pro984Thr)
c.2761C>A (p.Pro921Thr)
n.577-2056G>T
c.*3622-2056G>T (n.*3622-2056G>T)
c.3664C>A (p.Pro1222Thr)
c.2788C>A (p.Pro930Thr)
c.2137C>A (p.Pro713Thr)
c.1741C>A (p.Pro581Thr)
c.1483C>A (p.Pro495Thr)
10g.75028650C>GCA377292079DUSP29,KAT6Bc.3826C>G (p.Pro1276Ala)
c.3277C>G (p.Pro1093Ala)
c.2950C>G (p.Pro984Ala)
c.2761C>G (p.Pro921Ala)
n.577-2056G>C
c.*3622-2056G>C (n.*3622-2056G>C)
c.3664C>G (p.Pro1222Ala)
c.2788C>G (p.Pro930Ala)
c.2137C>G (p.Pro713Ala)
c.1741C>G (p.Pro581Ala)
c.1483C>G (p.Pro495Ala)
 gnomAD v4
10g.75028650C>TCA377292082DUSP29,KAT6Bc.3826C>T (p.Pro1276Ser)
c.3277C>T (p.Pro1093Ser)
c.2950C>T (p.Pro984Ser)
c.2761C>T (p.Pro921Ser)
n.577-2056G>A
c.*3622-2056G>A (n.*3622-2056G>A)
c.3664C>T (p.Pro1222Ser)
c.2788C>T (p.Pro930Ser)
c.2137C>T (p.Pro713Ser)
c.1741C>T (p.Pro581Ser)
c.1483C>T (p.Pro495Ser)
 COSMIC
10g.75028651C>ACA377292086DUSP29,KAT6Bc.3827C>A (p.Pro1276Gln)
c.3278C>A (p.Pro1093Gln)
c.2951C>A (p.Pro984Gln)
c.2762C>A (p.Pro921Gln)
n.577-2057G>T
c.*3622-2057G>T (n.*3622-2057G>T)
c.3665C>A (p.Pro1222Gln)
c.2789C>A (p.Pro930Gln)
c.2138C>A (p.Pro713Gln)
c.1742C>A (p.Pro581Gln)
c.1484C>A (p.Pro495Gln)
10g.75028651C=CA1920306413DUSP29,KAT6Bc.3827C= (p.Pro1276=)
c.3278C= (p.Pro1093=)
c.2951C= (p.Pro984=)
c.2762C= (p.Pro921=)
n.577-2057G=
c.*3622-2057G= (n.*3622-2057G=)
c.3665C= (p.Pro1222=)
c.2789C= (p.Pro930=)
c.2138C= (p.Pro713=)
c.1742C= (p.Pro581=)
c.1484C= (p.Pro495=)
10g.75028651C>GCA377292089DUSP29,KAT6Bc.3827C>G (p.Pro1276Arg)
c.3278C>G (p.Pro1093Arg)
c.2951C>G (p.Pro984Arg)
c.2762C>G (p.Pro921Arg)
n.577-2057G>C
c.*3622-2057G>C (n.*3622-2057G>C)
c.3665C>G (p.Pro1222Arg)
c.2789C>G (p.Pro930Arg)
c.2138C>G (p.Pro713Arg)
c.1742C>G (p.Pro581Arg)
c.1484C>G (p.Pro495Arg)
10g.75028651C>TCA377292092DUSP29,KAT6Bc.3827C>T (p.Pro1276Leu)
c.3278C>T (p.Pro1093Leu)
c.2951C>T (p.Pro984Leu)
c.2762C>T (p.Pro921Leu)
n.577-2057G>A
c.*3622-2057G>A (n.*3622-2057G>A)
c.3665C>T (p.Pro1222Leu)
c.2789C>T (p.Pro930Leu)
c.2138C>T (p.Pro713Leu)
c.1742C>T (p.Pro581Leu)
c.1484C>T (p.Pro495Leu)
 ClinVar dbSNP gnomAD v4
10g.75028652G>ACA5564912DUSP29,KAT6Bc.3828G>A (p.Pro1276=)
c.3279G>A (p.Pro1093=)
c.2952G>A (p.Pro984=)
c.2763G>A (p.Pro921=)
n.577-2058C>T
c.*3622-2058C>T (n.*3622-2058C>T)
c.3666G>A (p.Pro1222=)
c.2790G>A (p.Pro930=)
c.2139G>A (p.Pro713=)
c.1743G>A (p.Pro581=)
c.1485G>A (p.Pro495=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.75028652G>CCA470299552DUSP29,KAT6Bc.3828G>C (p.Pro1276=)
c.3279G>C (p.Pro1093=)
c.2952G>C (p.Pro984=)
c.2763G>C (p.Pro921=)
n.577-2058C>G
c.*3622-2058C>G (n.*3622-2058C>G)
c.3666G>C (p.Pro1222=)
c.2790G>C (p.Pro930=)
c.2139G>C (p.Pro713=)
c.1743G>C (p.Pro581=)
c.1485G>C (p.Pro495=)
10g.75028652G=CA1920306414DUSP29,KAT6Bc.3828G= (p.Pro1276=)
c.3279G= (p.Pro1093=)
c.2952G= (p.Pro984=)
c.2763G= (p.Pro921=)
n.577-2058C=
c.*3622-2058C= (n.*3622-2058C=)
c.3666G= (p.Pro1222=)
c.2790G= (p.Pro930=)
c.2139G= (p.Pro713=)
c.1743G= (p.Pro581=)
c.1485G= (p.Pro495=)
10g.75028652G>TCA470299551DUSP29,KAT6Bc.3828G>T (p.Pro1276=)
c.3279G>T (p.Pro1093=)
c.2952G>T (p.Pro984=)
c.2763G>T (p.Pro921=)
n.577-2058C>A
c.*3622-2058C>A (n.*3622-2058C>A)
c.3666G>T (p.Pro1222=)
c.2790G>T (p.Pro930=)
c.2139G>T (p.Pro713=)
c.1743G>T (p.Pro581=)
c.1485G>T (p.Pro495=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
10g.75028653C>ACA377292099DUSP29,KAT6Bc.3829C>A (p.Pro1277Thr)
c.3280C>A (p.Pro1094Thr)
c.2953C>A (p.Pro985Thr)
c.2764C>A (p.Pro922Thr)
n.577-2059G>T
c.*3622-2059G>T (n.*3622-2059G>T)
c.3667C>A (p.Pro1223Thr)
c.2791C>A (p.Pro931Thr)
c.2140C>A (p.Pro714Thr)
c.1744C>A (p.Pro582Thr)
c.1486C>A (p.Pro496Thr)
10g.75028653C=CA1920306415DUSP29,KAT6Bc.3829C= (p.Pro1277=)
c.3280C= (p.Pro1094=)
c.2953C= (p.Pro985=)
c.2764C= (p.Pro922=)
n.577-2059G=
c.*3622-2059G= (n.*3622-2059G=)
c.3667C= (p.Pro1223=)
c.2791C= (p.Pro931=)
c.2140C= (p.Pro714=)
c.1744C= (p.Pro582=)
c.1486C= (p.Pro496=)
10g.75028653C>GCA209709135DUSP29,KAT6Bc.3829C>G (p.Pro1277Ala)
c.3280C>G (p.Pro1094Ala)
c.2953C>G (p.Pro985Ala)
c.2764C>G (p.Pro922Ala)
n.577-2059G>C
c.*3622-2059G>C (n.*3622-2059G>C)
c.3667C>G (p.Pro1223Ala)
c.2791C>G (p.Pro931Ala)
c.2140C>G (p.Pro714Ala)
c.1744C>G (p.Pro582Ala)
c.1486C>G (p.Pro496Ala)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.75028653C>TCA377292107DUSP29,KAT6Bc.3829C>T (p.Pro1277Ser)
c.3280C>T (p.Pro1094Ser)
c.2953C>T (p.Pro985Ser)
c.2764C>T (p.Pro922Ser)
n.577-2059G>A
c.*3622-2059G>A (n.*3622-2059G>A)
c.3667C>T (p.Pro1223Ser)
c.2791C>T (p.Pro931Ser)
c.2140C>T (p.Pro714Ser)
c.1744C>T (p.Pro582Ser)
c.1486C>T (p.Pro496Ser)
10g.75028654C>ACA377292117DUSP29,KAT6Bc.3830C>A (p.Pro1277Gln)
c.3281C>A (p.Pro1094Gln)
c.2954C>A (p.Pro985Gln)
c.2765C>A (p.Pro922Gln)
n.577-2060G>T
c.*3622-2060G>T (n.*3622-2060G>T)
c.3668C>A (p.Pro1223Gln)
c.2792C>A (p.Pro931Gln)
c.2141C>A (p.Pro714Gln)
c.1745C>A (p.Pro582Gln)
c.1487C>A (p.Pro496Gln)
10g.75028654C>GCA377292112DUSP29,KAT6Bc.3830C>G (p.Pro1277Arg)
c.3281C>G (p.Pro1094Arg)
c.2954C>G (p.Pro985Arg)
c.2765C>G (p.Pro922Arg)
n.577-2060G>C
c.*3622-2060G>C (n.*3622-2060G>C)
c.3668C>G (p.Pro1223Arg)
c.2792C>G (p.Pro931Arg)
c.2141C>G (p.Pro714Arg)
c.1745C>G (p.Pro582Arg)
c.1487C>G (p.Pro496Arg)
10g.75028654C>TCA377292114DUSP29,KAT6Bc.3830C>T (p.Pro1277Leu)
c.3281C>T (p.Pro1094Leu)
c.2954C>T (p.Pro985Leu)
c.2765C>T (p.Pro922Leu)
n.577-2060G>A
c.*3622-2060G>A (n.*3622-2060G>A)
c.3668C>T (p.Pro1223Leu)
c.2792C>T (p.Pro931Leu)
c.2141C>T (p.Pro714Leu)
c.1745C>T (p.Pro582Leu)
c.1487C>T (p.Pro496Leu)
10g.75028655A>CCA470299555DUSP29,KAT6Bc.3831A>C (p.Pro1277=)
c.3282A>C (p.Pro1094=)
c.2955A>C (p.Pro985=)
c.2766A>C (p.Pro922=)
n.577-2061T>G
c.*3622-2061T>G (n.*3622-2061T>G)
c.3669A>C (p.Pro1223=)
c.2793A>C (p.Pro931=)
c.2142A>C (p.Pro714=)
c.1746A>C (p.Pro582=)
c.1488A>C (p.Pro496=)
10g.75028655A>GCA470299554DUSP29,KAT6Bc.3831A>G (p.Pro1277=)
c.3282A>G (p.Pro1094=)
c.2955A>G (p.Pro985=)
c.2766A>G (p.Pro922=)
n.577-2061T>C
c.*3622-2061T>C (n.*3622-2061T>C)
c.3669A>G (p.Pro1223=)
c.2793A>G (p.Pro931=)
c.2142A>G (p.Pro714=)
c.1746A>G (p.Pro582=)
c.1488A>G (p.Pro496=)
 dbSNP
10g.75028655A>TCA470299553DUSP29,KAT6Bc.3831A>T (p.Pro1277=)
c.3282A>T (p.Pro1094=)
c.2955A>T (p.Pro985=)
c.2766A>T (p.Pro922=)
n.577-2061T>A
c.*3622-2061T>A (n.*3622-2061T>A)
c.3669A>T (p.Pro1223=)
c.2793A>T (p.Pro931=)
c.2142A>T (p.Pro714=)
c.1746A>T (p.Pro582=)
c.1488A>T (p.Pro496=)
 COSMIC
10g.75028656G>ACA377292120DUSP29,KAT6Bc.3832G>A (p.Glu1278Lys)
c.3283G>A (p.Glu1095Lys)
c.2956G>A (p.Glu986Lys)
c.2767G>A (p.Glu923Lys)
n.577-2062C>T
c.*3622-2062C>T (n.*3622-2062C>T)
c.3670G>A (p.Glu1224Lys)
c.2794G>A (p.Glu932Lys)
c.2143G>A (p.Glu715Lys)
c.1747G>A (p.Glu583Lys)
c.1489G>A (p.Glu497Lys)
10g.75028656G>CCA377292124DUSP29,KAT6Bc.3832G>C (p.Glu1278Gln)
c.3283G>C (p.Glu1095Gln)
c.2956G>C (p.Glu986Gln)
c.2767G>C (p.Glu923Gln)
n.577-2062C>G
c.*3622-2062C>G (n.*3622-2062C>G)
c.3670G>C (p.Glu1224Gln)
c.2794G>C (p.Glu932Gln)
c.2143G>C (p.Glu715Gln)
c.1747G>C (p.Glu583Gln)
c.1489G>C (p.Glu497Gln)
10g.75028656G>TCA377292126DUSP29,KAT6Bc.3832G>T (p.Glu1278Ter)
c.3283G>T (p.Glu1095Ter)
c.2956G>T (p.Glu986Ter)
c.2767G>T (p.Glu923Ter)
n.577-2062C>A
c.*3622-2062C>A (n.*3622-2062C>A)
c.3670G>T (p.Glu1224Ter)
c.2794G>T (p.Glu932Ter)
c.2143G>T (p.Glu715Ter)
c.1747G>T (p.Glu583Ter)
c.1489G>T (p.Glu497Ter)
10g.75028657A>CCA377292130DUSP29,KAT6Bc.3833A>C (p.Glu1278Ala)
c.3284A>C (p.Glu1095Ala)
c.2957A>C (p.Glu986Ala)
c.2768A>C (p.Glu923Ala)
n.577-2063T>G
c.*3622-2063T>G (n.*3622-2063T>G)
c.3671A>C (p.Glu1224Ala)
c.2795A>C (p.Glu932Ala)
c.2144A>C (p.Glu715Ala)
c.1748A>C (p.Glu583Ala)
c.1490A>C (p.Glu497Ala)
10g.75028657A>GCA377292132DUSP29,KAT6Bc.3833A>G (p.Glu1278Gly)
c.3284A>G (p.Glu1095Gly)
c.2957A>G (p.Glu986Gly)
c.2768A>G (p.Glu923Gly)
n.577-2063T>C
c.*3622-2063T>C (n.*3622-2063T>C)
c.3671A>G (p.Glu1224Gly)
c.2795A>G (p.Glu932Gly)
c.2144A>G (p.Glu715Gly)
c.1748A>G (p.Glu583Gly)
c.1490A>G (p.Glu497Gly)
10g.75028657A>TCA377292136DUSP29,KAT6Bc.3833A>T (p.Glu1278Val)
c.3284A>T (p.Glu1095Val)
c.2957A>T (p.Glu986Val)
c.2768A>T (p.Glu923Val)
n.577-2063T>A
c.*3622-2063T>A (n.*3622-2063T>A)
c.3671A>T (p.Glu1224Val)
c.2795A>T (p.Glu932Val)
c.2144A>T (p.Glu715Val)
c.1748A>T (p.Glu583Val)
c.1490A>T (p.Glu497Val)
10g.75028658A=CA1920306416DUSP29,KAT6Bc.3834A= (p.Glu1278=)
c.3285A= (p.Glu1095=)
c.2958A= (p.Glu986=)
c.2769A= (p.Glu923=)
n.577-2064T=
c.*3622-2064T= (n.*3622-2064T=)
c.3672A= (p.Glu1224=)
c.2796A= (p.Glu932=)
c.2145A= (p.Glu715=)
c.1749A= (p.Glu583=)
c.1491A= (p.Glu497=)
10g.75028658A>CCA377292140DUSP29,KAT6Bc.3834A>C (p.Glu1278Asp)
c.3285A>C (p.Glu1095Asp)
c.2958A>C (p.Glu986Asp)
c.2769A>C (p.Glu923Asp)
n.577-2064T>G
c.*3622-2064T>G (n.*3622-2064T>G)
c.3672A>C (p.Glu1224Asp)
c.2796A>C (p.Glu932Asp)
c.2145A>C (p.Glu715Asp)
c.1749A>C (p.Glu583Asp)
c.1491A>C (p.Glu497Asp)
 gnomAD v4
10g.75028658A>GCA209709143DUSP29,KAT6Bc.3834A>G (p.Glu1278=)
c.3285A>G (p.Glu1095=)
c.2958A>G (p.Glu986=)
c.2769A>G (p.Glu923=)
n.577-2064T>C
c.*3622-2064T>C (n.*3622-2064T>C)
c.3672A>G (p.Glu1224=)
c.2796A>G (p.Glu932=)
c.2145A>G (p.Glu715=)
c.1749A>G (p.Glu583=)
c.1491A>G (p.Glu497=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.75028658A>TCA377292156DUSP29,KAT6Bc.3834A>T (p.Glu1278Asp)
c.3285A>T (p.Glu1095Asp)
c.2958A>T (p.Glu986Asp)
c.2769A>T (p.Glu923Asp)
n.577-2064T>A
c.*3622-2064T>A (n.*3622-2064T>A)
c.3672A>T (p.Glu1224Asp)
c.2796A>T (p.Glu932Asp)
c.2145A>T (p.Glu715Asp)
c.1749A>T (p.Glu583Asp)
c.1491A>T (p.Glu497Asp)
10g.75028659A>CCA377292160DUSP29,KAT6Bc.3835A>C (p.Thr1279Pro)
c.3286A>C (p.Thr1096Pro)
c.2959A>C (p.Thr987Pro)
c.2770A>C (p.Thr924Pro)
n.577-2065T>G
c.*3622-2065T>G (n.*3622-2065T>G)
c.3673A>C (p.Thr1225Pro)
c.2797A>C (p.Thr933Pro)
c.2146A>C (p.Thr716Pro)
c.1750A>C (p.Thr584Pro)
c.1492A>C (p.Thr498Pro)
10g.75028659A>GCA377292163DUSP29,KAT6Bc.3835A>G (p.Thr1279Ala)
c.3286A>G (p.Thr1096Ala)
c.2959A>G (p.Thr987Ala)
c.2770A>G (p.Thr924Ala)
n.577-2065T>C
c.*3622-2065T>C (n.*3622-2065T>C)
c.3673A>G (p.Thr1225Ala)
c.2797A>G (p.Thr933Ala)
c.2146A>G (p.Thr716Ala)
c.1750A>G (p.Thr584Ala)
c.1492A>G (p.Thr498Ala)
10g.75028659A>TCA377292166DUSP29,KAT6Bc.3835A>T (p.Thr1279Ser)
c.3286A>T (p.Thr1096Ser)
c.2959A>T (p.Thr987Ser)
c.2770A>T (p.Thr924Ser)
n.577-2065T>A
c.*3622-2065T>A (n.*3622-2065T>A)
c.3673A>T (p.Thr1225Ser)
c.2797A>T (p.Thr933Ser)
c.2146A>T (p.Thr716Ser)
c.1750A>T (p.Thr584Ser)
c.1492A>T (p.Thr498Ser)
10g.75028660C>ACA377292178DUSP29,KAT6Bc.3836C>A (p.Thr1279Lys)
c.3287C>A (p.Thr1096Lys)
c.2960C>A (p.Thr987Lys)
c.2771C>A (p.Thr924Lys)
n.577-2066G>T
c.*3622-2066G>T (n.*3622-2066G>T)
c.3674C>A (p.Thr1225Lys)
c.2798C>A (p.Thr933Lys)
c.2147C>A (p.Thr716Lys)
c.1751C>A (p.Thr584Lys)
c.1493C>A (p.Thr498Lys)
10g.75028660C>GCA377292172DUSP29,KAT6Bc.3836C>G (p.Thr1279Arg)
c.3287C>G (p.Thr1096Arg)
c.2960C>G (p.Thr987Arg)
c.2771C>G (p.Thr924Arg)
n.577-2066G>C
c.*3622-2066G>C (n.*3622-2066G>C)
c.3674C>G (p.Thr1225Arg)
c.2798C>G (p.Thr933Arg)
c.2147C>G (p.Thr716Arg)
c.1751C>G (p.Thr584Arg)
c.1493C>G (p.Thr498Arg)
10g.75028660C>TCA377292169DUSP29,KAT6Bc.3836C>T (p.Thr1279Ile)
c.3287C>T (p.Thr1096Ile)
c.2960C>T (p.Thr987Ile)
c.2771C>T (p.Thr924Ile)
n.577-2066G>A
c.*3622-2066G>A (n.*3622-2066G>A)
c.3674C>T (p.Thr1225Ile)
c.2798C>T (p.Thr933Ile)
c.2147C>T (p.Thr716Ile)
c.1751C>T (p.Thr584Ile)
c.1493C>T (p.Thr498Ile)
10g.75028661A=CA1920306417DUSP29,KAT6Bc.3837A= (p.Thr1279=)
c.3288A= (p.Thr1096=)
c.2961A= (p.Thr987=)
c.2772A= (p.Thr924=)
n.577-2067T=
c.*3622-2067T= (n.*3622-2067T=)
c.3675A= (p.Thr1225=)
c.2799A= (p.Thr933=)
c.2148A= (p.Thr716=)
c.1752A= (p.Thr584=)
c.1494A= (p.Thr498=)
10g.75028661A>CCA5564913DUSP29,KAT6Bc.3837A>C (p.Thr1279=)
c.3288A>C (p.Thr1096=)
c.2961A>C (p.Thr987=)
c.2772A>C (p.Thr924=)
n.577-2067T>G
c.*3622-2067T>G (n.*3622-2067T>G)
c.3675A>C (p.Thr1225=)
c.2799A>C (p.Thr933=)
c.2148A>C (p.Thr716=)
c.1752A>C (p.Thr584=)
c.1494A>C (p.Thr498=)
 dbSNP ExAC gnomAD v2
10g.75028661A>GCA470299556DUSP29,KAT6Bc.3837A>G (p.Thr1279=)
c.3288A>G (p.Thr1096=)
c.2961A>G (p.Thr987=)
c.2772A>G (p.Thr924=)
n.577-2067T>C
c.*3622-2067T>C (n.*3622-2067T>C)
c.3675A>G (p.Thr1225=)
c.2799A>G (p.Thr933=)
c.2148A>G (p.Thr716=)
c.1752A>G (p.Thr584=)
c.1494A>G (p.Thr498=)
 ClinVar dbSNP
10g.75028661A>TCA470299557DUSP29,KAT6Bc.3837A>T (p.Thr1279=)
c.3288A>T (p.Thr1096=)
c.2961A>T (p.Thr987=)
c.2772A>T (p.Thr924=)
n.577-2067T>A
c.*3622-2067T>A (n.*3622-2067T>A)
c.3675A>T (p.Thr1225=)
c.2799A>T (p.Thr933=)
c.2148A>T (p.Thr716=)
c.1752A>T (p.Thr584=)
c.1494A>T (p.Thr498=)
10g.75028662C>ACA377292183DUSP29,KAT6Bc.3838C>A (p.Pro1280Thr)
c.3289C>A (p.Pro1097Thr)
c.2962C>A (p.Pro988Thr)
c.2773C>A (p.Pro925Thr)
n.577-2068G>T
c.*3622-2068G>T (n.*3622-2068G>T)
c.3676C>A (p.Pro1226Thr)
c.2800C>A (p.Pro934Thr)
c.2149C>A (p.Pro717Thr)
c.1753C>A (p.Pro585Thr)
c.1495C>A (p.Pro499Thr)
 dbSNP gnomAD v2 gnomAD v4
10g.75028662C=CA1920306418DUSP29,KAT6Bc.3838C= (p.Pro1280=)
c.3289C= (p.Pro1097=)
c.2962C= (p.Pro988=)
c.2773C= (p.Pro925=)
n.577-2068G=
c.*3622-2068G= (n.*3622-2068G=)
c.3676C= (p.Pro1226=)
c.2800C= (p.Pro934=)
c.2149C= (p.Pro717=)
c.1753C= (p.Pro585=)
c.1495C= (p.Pro499=)
10g.75028662C>GCA377292189DUSP29,KAT6Bc.3838C>G (p.Pro1280Ala)
c.3289C>G (p.Pro1097Ala)
c.2962C>G (p.Pro988Ala)
c.2773C>G (p.Pro925Ala)
n.577-2068G>C
c.*3622-2068G>C (n.*3622-2068G>C)
c.3676C>G (p.Pro1226Ala)
c.2800C>G (p.Pro934Ala)
c.2149C>G (p.Pro717Ala)
c.1753C>G (p.Pro585Ala)
c.1495C>G (p.Pro499Ala)
10g.75028662C>TCA377292185DUSP29,KAT6Bc.3838C>T (p.Pro1280Ser)
c.3289C>T (p.Pro1097Ser)
c.2962C>T (p.Pro988Ser)
c.2773C>T (p.Pro925Ser)
n.577-2068G>A
c.*3622-2068G>A (n.*3622-2068G>A)
c.3676C>T (p.Pro1226Ser)
c.2800C>T (p.Pro934Ser)
c.2149C>T (p.Pro717Ser)
c.1753C>T (p.Pro585Ser)
c.1495C>T (p.Pro499Ser)
10g.75028663C>ACA377292193DUSP29,KAT6Bc.3839C>A (p.Pro1280His)
c.3290C>A (p.Pro1097His)
c.2963C>A (p.Pro988His)
c.2774C>A (p.Pro925His)
n.577-2069G>T
c.*3622-2069G>T (n.*3622-2069G>T)
c.3677C>A (p.Pro1226His)
c.2801C>A (p.Pro934His)
c.2150C>A (p.Pro717His)
c.1754C>A (p.Pro585His)
c.1496C>A (p.Pro499His)
 gnomAD v4
10g.75028663C=CA1920306419DUSP29,KAT6Bc.3839C= (p.Pro1280=)
c.3290C= (p.Pro1097=)
c.2963C= (p.Pro988=)
c.2774C= (p.Pro925=)
n.577-2069G=
c.*3622-2069G= (n.*3622-2069G=)
c.3677C= (p.Pro1226=)
c.2801C= (p.Pro934=)
c.2150C= (p.Pro717=)
c.1754C= (p.Pro585=)
c.1496C= (p.Pro499=)
10g.75028663C>GCA5564914DUSP29,KAT6Bc.3839C>G (p.Pro1280Arg)
c.3290C>G (p.Pro1097Arg)
c.2963C>G (p.Pro988Arg)
c.2774C>G (p.Pro925Arg)
n.577-2069G>C
c.*3622-2069G>C (n.*3622-2069G>C)
c.3677C>G (p.Pro1226Arg)
c.2801C>G (p.Pro934Arg)
c.2150C>G (p.Pro717Arg)
c.1754C>G (p.Pro585Arg)
c.1496C>G (p.Pro499Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.75028663C>TCA377292198DUSP29,KAT6Bc.3839C>T (p.Pro1280Leu)
c.3290C>T (p.Pro1097Leu)
c.2963C>T (p.Pro988Leu)
c.2774C>T (p.Pro925Leu)
n.577-2069G>A
c.*3622-2069G>A (n.*3622-2069G>A)
c.3677C>T (p.Pro1226Leu)
c.2801C>T (p.Pro934Leu)
c.2150C>T (p.Pro717Leu)
c.1754C>T (p.Pro585Leu)
c.1496C>T (p.Pro499Leu)
 gnomAD v4
10g.75028664C>ACA470299558DUSP29,KAT6Bc.3840C>A (p.Pro1280=)
c.3291C>A (p.Pro1097=)
c.2964C>A (p.Pro988=)
c.2775C>A (p.Pro925=)
n.577-2070G>T
c.*3622-2070G>T (n.*3622-2070G>T)
c.3678C>A (p.Pro1226=)
c.2802C>A (p.Pro934=)
c.2151C>A (p.Pro717=)
c.1755C>A (p.Pro585=)
c.1497C>A (p.Pro499=)
10g.75028664C=CA1920306420DUSP29,KAT6Bc.3840C= (p.Pro1280=)
c.3291C= (p.Pro1097=)
c.2964C= (p.Pro988=)
c.2775C= (p.Pro925=)
n.577-2070G=
c.*3622-2070G= (n.*3622-2070G=)
c.3678C= (p.Pro1226=)
c.2802C= (p.Pro934=)
c.2151C= (p.Pro717=)
c.1755C= (p.Pro585=)
c.1497C= (p.Pro499=)
10g.75028664C>GCA470299559DUSP29,KAT6Bc.3840C>G (p.Pro1280=)
c.3291C>G (p.Pro1097=)
c.2964C>G (p.Pro988=)
c.2775C>G (p.Pro925=)
n.577-2070G>C
c.*3622-2070G>C (n.*3622-2070G>C)
c.3678C>G (p.Pro1226=)
c.2802C>G (p.Pro934=)
c.2151C>G (p.Pro717=)
c.1755C>G (p.Pro585=)
c.1497C>G (p.Pro499=)
10g.75028664C>TCA209709172DUSP29,KAT6Bc.3840C>T (p.Pro1280=)
c.3291C>T (p.Pro1097=)
c.2964C>T (p.Pro988=)
c.2775C>T (p.Pro925=)
n.577-2070G>A
c.*3622-2070G>A (n.*3622-2070G>A)
c.3678C>T (p.Pro1226=)
c.2802C>T (p.Pro934=)
c.2151C>T (p.Pro717=)
c.1755C>T (p.Pro585=)
c.1497C>T (p.Pro499=)
 dbSNP
10g.75028665_75028666insACACACA2788571369DUSP29,KAT6Bc.3841_3842insACACA (p.Met1281AsnfsTer9)
c.3292_3293insACACA (p.Met1098AsnfsTer9)
c.2965_2966insACACA (p.Met989AsnfsTer9)
c.2776_2777insACACA (p.Met926AsnfsTer9)
n.577-2070_577-2069insTGTTG
c.*3622-2070_*3622-2069insTGTTG (n.*3622-2070_*3622-2069insTGTTG)
c.3679_3680insACACA (p.Met1227AsnfsTer9)
c.2803_2804insACACA (p.Met935AsnfsTer9)
c.2152_2153insACACA (p.Met718AsnfsTer9)
c.1756_1757insACACA (p.Met586AsnfsTer9)
c.1498_1499insACACA (p.Met500AsnfsTer9)
10g.75028665A=CA1920306421DUSP29,KAT6Bc.3841A= (p.Met1281=)
c.3292A= (p.Met1098=)
c.2965A= (p.Met989=)
c.2776A= (p.Met926=)
n.577-2071T=
c.*3622-2071T= (n.*3622-2071T=)
c.3679A= (p.Met1227=)
c.2803A= (p.Met935=)
c.2152A= (p.Met718=)
c.1756A= (p.Met586=)
c.1498A= (p.Met500=)
10g.75028665A>CCA377292212DUSP29,KAT6Bc.3841A>C (p.Met1281Leu)
c.3292A>C (p.Met1098Leu)
c.2965A>C (p.Met989Leu)
c.2776A>C (p.Met926Leu)
n.577-2071T>G
c.*3622-2071T>G (n.*3622-2071T>G)
c.3679A>C (p.Met1227Leu)
c.2803A>C (p.Met935Leu)
c.2152A>C (p.Met718Leu)
c.1756A>C (p.Met586Leu)
c.1498A>C (p.Met500Leu)
 gnomAD v4
10g.75028665A>GCA209709175DUSP29,KAT6Bc.3841A>G (p.Met1281Val)
c.3292A>G (p.Met1098Val)
c.2965A>G (p.Met989Val)
c.2776A>G (p.Met926Val)
n.577-2071T>C
c.*3622-2071T>C (n.*3622-2071T>C)
c.3679A>G (p.Met1227Val)
c.2803A>G (p.Met935Val)
c.2152A>G (p.Met718Val)
c.1756A>G (p.Met586Val)
c.1498A>G (p.Met500Val)
 ClinVar dbSNP gnomAD v3 gnomAD v4
10g.75028665A>TCA377292217DUSP29,KAT6Bc.3841A>T (p.Met1281Leu)
c.3292A>T (p.Met1098Leu)
c.2965A>T (p.Met989Leu)
c.2776A>T (p.Met926Leu)
n.577-2071T>A
c.*3622-2071T>A (n.*3622-2071T>A)
c.3679A>T (p.Met1227Leu)
c.2803A>T (p.Met935Leu)
c.2152A>T (p.Met718Leu)
c.1756A>T (p.Met586Leu)
c.1498A>T (p.Met500Leu)
10g.75028666T>ACA377292221DUSP29,KAT6Bc.3842T>A (p.Met1281Lys)
c.3293T>A (p.Met1098Lys)
c.2966T>A (p.Met989Lys)
c.2777T>A (p.Met926Lys)
n.577-2072A>T
c.*3622-2072A>T (n.*3622-2072A>T)
c.3680T>A (p.Met1227Lys)
c.2804T>A (p.Met935Lys)
c.2153T>A (p.Met718Lys)
c.1757T>A (p.Met586Lys)
c.1499T>A (p.Met500Lys)
10g.75028666T>CCA377292225DUSP29,KAT6Bc.3842T>C (p.Met1281Thr)
c.3293T>C (p.Met1098Thr)
c.2966T>C (p.Met989Thr)
c.2777T>C (p.Met926Thr)
n.577-2072A>G
c.*3622-2072A>G (n.*3622-2072A>G)
c.3680T>C (p.Met1227Thr)
c.2804T>C (p.Met935Thr)
c.2153T>C (p.Met718Thr)
c.1757T>C (p.Met586Thr)
c.1499T>C (p.Met500Thr)
 gnomAD v4
10g.75028666T>GCA5564915DUSP29,KAT6Bc.3842T>G (p.Met1281Arg)
c.3293T>G (p.Met1098Arg)
c.2966T>G (p.Met989Arg)
c.2777T>G (p.Met926Arg)
n.577-2072A>C
c.*3622-2072A>C (n.*3622-2072A>C)
c.3680T>G (p.Met1227Arg)
c.2804T>G (p.Met935Arg)
c.2153T>G (p.Met718Arg)
c.1757T>G (p.Met586Arg)
c.1499T>G (p.Met500Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.75028666T=CA1920306422DUSP29,KAT6Bc.3842T= (p.Met1281=)
c.3293T= (p.Met1098=)
c.2966T= (p.Met989=)
c.2777T= (p.Met926=)
n.577-2072A=
c.*3622-2072A= (n.*3622-2072A=)
c.3680T= (p.Met1227=)
c.2804T= (p.Met935=)
c.2153T= (p.Met718=)
c.1757T= (p.Met586=)
c.1499T= (p.Met500=)
10g.75028667G>ACA377292236DUSP29,KAT6Bc.3843G>A (p.Met1281Ile)
c.3294G>A (p.Met1098Ile)
c.2967G>A (p.Met989Ile)
c.2778G>A (p.Met926Ile)
n.577-2073C>T
c.*3622-2073C>T (n.*3622-2073C>T)
c.3681G>A (p.Met1227Ile)
c.2805G>A (p.Met935Ile)
c.2154G>A (p.Met718Ile)
c.1758G>A (p.Met586Ile)
c.1500G>A (p.Met500Ile)
10g.75028667G>CCA377292232DUSP29,KAT6Bc.3843G>C (p.Met1281Ile)
c.3294G>C (p.Met1098Ile)
c.2967G>C (p.Met989Ile)
c.2778G>C (p.Met926Ile)
n.577-2073C>G
c.*3622-2073C>G (n.*3622-2073C>G)
c.3681G>C (p.Met1227Ile)
c.2805G>C (p.Met935Ile)
c.2154G>C (p.Met718Ile)
c.1758G>C (p.Met586Ile)
c.1500G>C (p.Met500Ile)
10g.75028667G>TCA377292231DUSP29,KAT6Bc.3843G>T (p.Met1281Ile)
c.3294G>T (p.Met1098Ile)
c.2967G>T (p.Met989Ile)
c.2778G>T (p.Met926Ile)
n.577-2073C>A
c.*3622-2073C>A (n.*3622-2073C>A)
c.3681G>T (p.Met1227Ile)
c.2805G>T (p.Met935Ile)
c.2154G>T (p.Met718Ile)
c.1758G>T (p.Met586Ile)
c.1500G>T (p.Met500Ile)
10g.75028668G>ACA377292239DUSP29,KAT6Bc.3844G>A (p.Glu1282Lys)
c.3295G>A (p.Glu1099Lys)
c.2968G>A (p.Glu990Lys)
c.2779G>A (p.Glu927Lys)
n.577-2074C>T
c.*3622-2074C>T (n.*3622-2074C>T)
c.3682G>A (p.Glu1228Lys)
c.2806G>A (p.Glu936Lys)
c.2155G>A (p.Glu719Lys)
c.1759G>A (p.Glu587Lys)
c.1501G>A (p.Glu501Lys)
10g.75028668G>CCA377292242DUSP29,KAT6Bc.3844G>C (p.Glu1282Gln)
c.3295G>C (p.Glu1099Gln)
c.2968G>C (p.Glu990Gln)
c.2779G>C (p.Glu927Gln)
n.577-2074C>G
c.*3622-2074C>G (n.*3622-2074C>G)
c.3682G>C (p.Glu1228Gln)
c.2806G>C (p.Glu936Gln)
c.2155G>C (p.Glu719Gln)
c.1759G>C (p.Glu587Gln)
c.1501G>C (p.Glu501Gln)
10g.75028668G>TCA377292245DUSP29,KAT6Bc.3844G>T (p.Glu1282Ter)
c.3295G>T (p.Glu1099Ter)
c.2968G>T (p.Glu990Ter)
c.2779G>T (p.Glu927Ter)
n.577-2074C>A
c.*3622-2074C>A (n.*3622-2074C>A)
c.3682G>T (p.Glu1228Ter)
c.2806G>T (p.Glu936Ter)
c.2155G>T (p.Glu719Ter)
c.1759G>T (p.Glu587Ter)
c.1501G>T (p.Glu501Ter)
 COSMIC
10g.75028669A>CCA377292249DUSP29,KAT6Bc.3845A>C (p.Glu1282Ala)
c.3296A>C (p.Glu1099Ala)
c.2969A>C (p.Glu990Ala)
c.2780A>C (p.Glu927Ala)
n.577-2075T>G
c.*3622-2075T>G (n.*3622-2075T>G)
c.3683A>C (p.Glu1228Ala)
c.2807A>C (p.Glu936Ala)
c.2156A>C (p.Glu719Ala)
c.1760A>C (p.Glu587Ala)
c.1502A>C (p.Glu501Ala)
10g.75028669A>GCA377292250DUSP29,KAT6Bc.3845A>G (p.Glu1282Gly)
c.3296A>G (p.Glu1099Gly)
c.2969A>G (p.Glu990Gly)
c.2780A>G (p.Glu927Gly)
n.577-2075T>C
c.*3622-2075T>C (n.*3622-2075T>C)
c.3683A>G (p.Glu1228Gly)
c.2807A>G (p.Glu936Gly)
c.2156A>G (p.Glu719Gly)
c.1760A>G (p.Glu587Gly)
c.1502A>G (p.Glu501Gly)
10g.75028669A>TCA377292254DUSP29,KAT6Bc.3845A>T (p.Glu1282Val)
c.3296A>T (p.Glu1099Val)
c.2969A>T (p.Glu990Val)
c.2780A>T (p.Glu927Val)
n.577-2075T>A
c.*3622-2075T>A (n.*3622-2075T>A)
c.3683A>T (p.Glu1228Val)
c.2807A>T (p.Glu936Val)
c.2156A>T (p.Glu719Val)
c.1760A>T (p.Glu587Val)
c.1502A>T (p.Glu501Val)
10g.75028670G>ACA209709182DUSP29,KAT6Bc.3846G>A (p.Glu1282=)
c.3297G>A (p.Glu1099=)
c.2970G>A (p.Glu990=)
c.2781G>A (p.Glu927=)
n.577-2076C>T
c.*3622-2076C>T (n.*3622-2076C>T)
c.3684G>A (p.Glu1228=)
c.2808G>A (p.Glu936=)
c.2157G>A (p.Glu719=)
c.1761G>A (p.Glu587=)
c.1503G>A (p.Glu501=)
 dbSNP gnomAD v4
10g.75028670G>CCA377292259DUSP29,KAT6Bc.3846G>C (p.Glu1282Asp)
c.3297G>C (p.Glu1099Asp)
c.2970G>C (p.Glu990Asp)
c.2781G>C (p.Glu927Asp)
n.577-2076C>G
c.*3622-2076C>G (n.*3622-2076C>G)
c.3684G>C (p.Glu1228Asp)
c.2808G>C (p.Glu936Asp)
c.2157G>C (p.Glu719Asp)
c.1761G>C (p.Glu587Asp)
c.1503G>C (p.Glu501Asp)
10g.75028670G=CA1920306423DUSP29,KAT6Bc.3846G= (p.Glu1282=)
c.3297G= (p.Glu1099=)
c.2970G= (p.Glu990=)
c.2781G= (p.Glu927=)
n.577-2076C=
c.*3622-2076C= (n.*3622-2076C=)
c.3684G= (p.Glu1228=)
c.2808G= (p.Glu936=)
c.2157G= (p.Glu719=)
c.1761G= (p.Glu587=)
c.1503G= (p.Glu501=)
10g.75028670G>TCA377292263DUSP29,KAT6Bc.3846G>T (p.Glu1282Asp)
c.3297G>T (p.Glu1099Asp)
c.2970G>T (p.Glu990Asp)
c.2781G>T (p.Glu927Asp)
n.577-2076C>A
c.*3622-2076C>A (n.*3622-2076C>A)
c.3684G>T (p.Glu1228Asp)
c.2808G>T (p.Glu936Asp)
c.2157G>T (p.Glu719Asp)
c.1761G>T (p.Glu587Asp)
c.1503G>T (p.Glu501Asp)
10g.75028671C>ACA377292266DUSP29,KAT6Bc.3847C>A (p.Pro1283Thr)
c.3298C>A (p.Pro1100Thr)
c.2971C>A (p.Pro991Thr)
c.2782C>A (p.Pro928Thr)
n.577-2077G>T
c.*3622-2077G>T (n.*3622-2077G>T)
c.3685C>A (p.Pro1229Thr)
c.2809C>A (p.Pro937Thr)
c.2158C>A (p.Pro720Thr)
c.1762C>A (p.Pro588Thr)
c.1504C>A (p.Pro502Thr)
 dbSNP gnomAD v4
10g.75028671C=CA1920306424DUSP29,KAT6Bc.3847C= (p.Pro1283=)
c.3298C= (p.Pro1100=)
c.2971C= (p.Pro991=)
c.2782C= (p.Pro928=)
n.577-2077G=
c.*3622-2077G= (n.*3622-2077G=)
c.3685C= (p.Pro1229=)
c.2809C= (p.Pro937=)
c.2158C= (p.Pro720=)
c.1762C= (p.Pro588=)
c.1504C= (p.Pro502=)
10g.75028671C>GCA5564916DUSP29,KAT6Bc.3847C>G (p.Pro1283Ala)
c.3298C>G (p.Pro1100Ala)
c.2971C>G (p.Pro991Ala)
c.2782C>G (p.Pro928Ala)
n.577-2077G>C
c.*3622-2077G>C (n.*3622-2077G>C)
c.3685C>G (p.Pro1229Ala)
c.2809C>G (p.Pro937Ala)
c.2158C>G (p.Pro720Ala)
c.1762C>G (p.Pro588Ala)
c.1504C>G (p.Pro502Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.75028671C>TCA377292270DUSP29,KAT6Bc.3847C>T (p.Pro1283Ser)
c.3298C>T (p.Pro1100Ser)
c.2971C>T (p.Pro991Ser)
c.2782C>T (p.Pro928Ser)
n.577-2077G>A
c.*3622-2077G>A (n.*3622-2077G>A)
c.3685C>T (p.Pro1229Ser)
c.2809C>T (p.Pro937Ser)
c.2158C>T (p.Pro720Ser)
c.1762C>T (p.Pro588Ser)
c.1504C>T (p.Pro502Ser)
10g.75028672C>ACA377292276DUSP29,KAT6Bc.3848C>A (p.Pro1283His)
c.3299C>A (p.Pro1100His)
c.2972C>A (p.Pro991His)
c.2783C>A (p.Pro928His)
n.577-2078G>T
c.*3622-2078G>T (n.*3622-2078G>T)
c.3686C>A (p.Pro1229His)
c.2810C>A (p.Pro937His)
c.2159C>A (p.Pro720His)
c.1763C>A (p.Pro588His)
c.1505C>A (p.Pro502His)
10g.75028672C>GCA377292279DUSP29,KAT6Bc.3848C>G (p.Pro1283Arg)
c.3299C>G (p.Pro1100Arg)
c.2972C>G (p.Pro991Arg)
c.2783C>G (p.Pro928Arg)
n.577-2078G>C
c.*3622-2078G>C (n.*3622-2078G>C)
c.3686C>G (p.Pro1229Arg)
c.2810C>G (p.Pro937Arg)
c.2159C>G (p.Pro720Arg)
c.1763C>G (p.Pro588Arg)
c.1505C>G (p.Pro502Arg)
10g.75028672C>TCA377292273DUSP29,KAT6Bc.3848C>T (p.Pro1283Leu)
c.3299C>T (p.Pro1100Leu)
c.2972C>T (p.Pro991Leu)
c.2783C>T (p.Pro928Leu)
n.577-2078G>A
c.*3622-2078G>A (n.*3622-2078G>A)
c.3686C>T (p.Pro1229Leu)
c.2810C>T (p.Pro937Leu)
c.2159C>T (p.Pro720Leu)
c.1763C>T (p.Pro588Leu)
c.1505C>T (p.Pro502Leu)
10g.75028673T>ACA470299562DUSP29,KAT6Bc.3849T>A (p.Pro1283=)
c.3300T>A (p.Pro1100=)
c.2973T>A (p.Pro991=)
c.2784T>A (p.Pro928=)
n.577-2079A>T
c.*3622-2079A>T (n.*3622-2079A>T)
c.3687T>A (p.Pro1229=)
c.2811T>A (p.Pro937=)
c.2160T>A (p.Pro720=)
c.1764T>A (p.Pro588=)
c.1506T>A (p.Pro502=)
10g.75028673T>CCA470299561DUSP29,KAT6Bc.3849T>C (p.Pro1283=)
c.3300T>C (p.Pro1100=)
c.2973T>C (p.Pro991=)
c.2784T>C (p.Pro928=)
n.577-2079A>G
c.*3622-2079A>G (n.*3622-2079A>G)
c.3687T>C (p.Pro1229=)
c.2811T>C (p.Pro937=)
c.2160T>C (p.Pro720=)
c.1764T>C (p.Pro588=)
c.1506T>C (p.Pro502=)
10g.75028673T>GCA470299560DUSP29,KAT6Bc.3849T>G (p.Pro1283=)
c.3300T>G (p.Pro1100=)
c.2973T>G (p.Pro991=)
c.2784T>G (p.Pro928=)
n.577-2079A>C
c.*3622-2079A>C (n.*3622-2079A>C)
c.3687T>G (p.Pro1229=)
c.2811T>G (p.Pro937=)
c.2160T>G (p.Pro720=)
c.1764T>G (p.Pro588=)
c.1506T>G (p.Pro502=)
10g.75028673_75028681delinsTGACGAGCACA1920306425DUSP29,KAT6Bc.3849_3857delinsTGACGAGCA (p.Pro1283=)
c.3300_3308delinsTGACGAGCA (p.Pro1100=)
c.2973_2981delinsTGACGAGCA (p.Pro991=)
c.2784_2792delinsTGACGAGCA (p.Pro928=)
n.577-2087_577-2079delinsTGCTCGTCA
c.*3622-2087_*3622-2079delinsTGCTCGTCA (n.*3622-2087_*3622-2079delinsTGCTCGTCA)
c.3687_3695delinsTGACGAGCA (p.Pro1229=)
c.2811_2819delinsTGACGAGCA (p.Pro937=)
c.2160_2168delinsTGACGAGCA (p.Pro720=)
c.1764_1772delinsTGACGAGCA (p.Pro588=)
c.1506_1514delinsTGACGAGCA (p.Pro502=)
10g.75028674G>ACA377292282DUSP29,KAT6Bc.3850G>A (p.Asp1284Asn)
c.3301G>A (p.Asp1101Asn)
c.2974G>A (p.Asp992Asn)
c.2785G>A (p.Asp929Asn)
n.577-2080C>T
c.*3622-2080C>T (n.*3622-2080C>T)
c.3688G>A (p.Asp1230Asn)
c.2812G>A (p.Asp938Asn)
c.2161G>A (p.Asp721Asn)
c.1765G>A (p.Asp589Asn)
c.1507G>A (p.Asp503Asn)
10g.75028674G>CCA377292286DUSP29,KAT6Bc.3850G>C (p.Asp1284His)
c.3301G>C (p.Asp1101His)
c.2974G>C (p.Asp992His)
c.2785G>C (p.Asp929His)
n.577-2080C>G
c.*3622-2080C>G (n.*3622-2080C>G)
c.3688G>C (p.Asp1230His)
c.2812G>C (p.Asp938His)
c.2161G>C (p.Asp721His)
c.1765G>C (p.Asp589His)
c.1507G>C (p.Asp503His)
10g.75028674G>TCA377292288DUSP29,KAT6Bc.3850G>T (p.Asp1284Tyr)
c.3301G>T (p.Asp1101Tyr)
c.2974G>T (p.Asp992Tyr)
c.2785G>T (p.Asp929Tyr)
n.577-2080C>A
c.*3622-2080C>A (n.*3622-2080C>A)
c.3688G>T (p.Asp1230Tyr)
c.2812G>T (p.Asp938Tyr)
c.2161G>T (p.Asp721Tyr)
c.1765G>T (p.Asp589Tyr)
c.1507G>T (p.Asp503Tyr)
 gnomAD v4
10g.75028675_75028682delCA658797448DUSP29,KAT6Bc.3851_3858del (p.Asp1284GlyfsTer22)
c.3302_3309del (p.Asp1101GlyfsTer22)
c.2975_2982del (p.Asp992GlyfsTer22)
c.2786_2793del (p.Asp929GlyfsTer22)
n.577-2087_577-2080del
c.*3622-2087_*3622-2080del (n.*3622-2087_*3622-2080del)
c.3689_3696del (p.Asp1230GlyfsTer22)
c.2813_2820del (p.Asp938GlyfsTer22)
c.2162_2169del (p.Asp721GlyfsTer22)
c.1766_1773del (p.Asp589GlyfsTer22)
c.1508_1515del (p.Asp503GlyfsTer22)
 ClinVar dbSNP
10g.75028675A>CCA377292292DUSP29,KAT6Bc.3851A>C (p.Asp1284Ala)
c.3302A>C (p.Asp1101Ala)
c.2975A>C (p.Asp992Ala)
c.2786A>C (p.Asp929Ala)
n.577-2081T>G
c.*3622-2081T>G (n.*3622-2081T>G)
c.3689A>C (p.Asp1230Ala)
c.2813A>C (p.Asp938Ala)
c.2162A>C (p.Asp721Ala)
c.1766A>C (p.Asp589Ala)
c.1508A>C (p.Asp503Ala)
10g.75028675A>GCA377292295DUSP29,KAT6Bc.3851A>G (p.Asp1284Gly)
c.3302A>G (p.Asp1101Gly)
c.2975A>G (p.Asp992Gly)
c.2786A>G (p.Asp929Gly)
n.577-2081T>C
c.*3622-2081T>C (n.*3622-2081T>C)
c.3689A>G (p.Asp1230Gly)
c.2813A>G (p.Asp938Gly)
c.2162A>G (p.Asp721Gly)
c.1766A>G (p.Asp589Gly)
c.1508A>G (p.Asp503Gly)
10g.75028675A>TCA377292297DUSP29,KAT6Bc.3851A>T (p.Asp1284Val)
c.3302A>T (p.Asp1101Val)
c.2975A>T (p.Asp992Val)
c.2786A>T (p.Asp929Val)
n.577-2081T>A
c.*3622-2081T>A (n.*3622-2081T>A)
c.3689A>T (p.Asp1230Val)
c.2813A>T (p.Asp938Val)
c.2162A>T (p.Asp721Val)
c.1766A>T (p.Asp589Val)
c.1508A>T (p.Asp503Val)
 gnomAD v4
10g.75028676C>ACA377292301DUSP29,KAT6Bc.3852C>A (p.Asp1284Glu)
c.3303C>A (p.Asp1101Glu)
c.2976C>A (p.Asp992Glu)
c.2787C>A (p.Asp929Glu)
n.577-2082G>T
c.*3622-2082G>T (n.*3622-2082G>T)
c.3690C>A (p.Asp1230Glu)
c.2814C>A (p.Asp938Glu)
c.2163C>A (p.Asp721Glu)
c.1767C>A (p.Asp589Glu)
c.1509C>A (p.Asp503Glu)
10g.75028676C=CA1920306426DUSP29,KAT6Bc.3852C= (p.Asp1284=)
c.3303C= (p.Asp1101=)
c.2976C= (p.Asp992=)
c.2787C= (p.Asp929=)
n.577-2082G=
c.*3622-2082G= (n.*3622-2082G=)
c.3690C= (p.Asp1230=)
c.2814C= (p.Asp938=)
c.2163C= (p.Asp721=)
c.1767C= (p.Asp589=)
c.1509C= (p.Asp503=)
10g.75028676C>GCA377292304DUSP29,KAT6Bc.3852C>G (p.Asp1284Glu)
c.3303C>G (p.Asp1101Glu)
c.2976C>G (p.Asp992Glu)
c.2787C>G (p.Asp929Glu)
n.577-2082G>C
c.*3622-2082G>C (n.*3622-2082G>C)
c.3690C>G (p.Asp1230Glu)
c.2814C>G (p.Asp938Glu)
c.2163C>G (p.Asp721Glu)
c.1767C>G (p.Asp589Glu)
c.1509C>G (p.Asp503Glu)
 gnomAD v4
10g.75028676C>TCA5564917DUSP29,KAT6Bc.3852C>T (p.Asp1284=)
c.3303C>T (p.Asp1101=)
c.2976C>T (p.Asp992=)
c.2787C>T (p.Asp929=)
n.577-2082G>A
c.*3622-2082G>A (n.*3622-2082G>A)
c.3690C>T (p.Asp1230=)
c.2814C>T (p.Asp938=)
c.2163C>T (p.Asp721=)
c.1767C>T (p.Asp589=)
c.1509C>T (p.Asp503=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.75028677G>ACA377292308DUSP29,KAT6Bc.3853G>A (p.Glu1285Lys)
c.3304G>A (p.Glu1102Lys)
c.2977G>A (p.Glu993Lys)
c.2788G>A (p.Glu930Lys)
n.577-2083C>T
c.*3622-2083C>T (n.*3622-2083C>T)
c.3691G>A (p.Glu1231Lys)
c.2815G>A (p.Glu939Lys)
c.2164G>A (p.Glu722Lys)
c.1768G>A (p.Glu590Lys)
c.1510G>A (p.Glu504Lys)
 dbSNP gnomAD v2 gnomAD v4
10g.75028677G>CCA377292310DUSP29,KAT6Bc.3853G>C (p.Glu1285Gln)
c.3304G>C (p.Glu1102Gln)
c.2977G>C (p.Glu993Gln)
c.2788G>C (p.Glu930Gln)
n.577-2083C>G
c.*3622-2083C>G (n.*3622-2083C>G)
c.3691G>C (p.Glu1231Gln)
c.2815G>C (p.Glu939Gln)
c.2164G>C (p.Glu722Gln)
c.1768G>C (p.Glu590Gln)
c.1510G>C (p.Glu504Gln)
10g.75028677G=CA1920306427DUSP29,KAT6Bc.3853G= (p.Glu1285=)
c.3304G= (p.Glu1102=)
c.2977G= (p.Glu993=)
c.2788G= (p.Glu930=)
n.577-2083C=
c.*3622-2083C= (n.*3622-2083C=)
c.3691G= (p.Glu1231=)
c.2815G= (p.Glu939=)
c.2164G= (p.Glu722=)
c.1768G= (p.Glu590=)
c.1510G= (p.Glu504=)
10g.75028677G>TCA377292312DUSP29,KAT6Bc.3853G>T (p.Glu1285Ter)
c.3304G>T (p.Glu1102Ter)
c.2977G>T (p.Glu993Ter)
c.2788G>T (p.Glu930Ter)
n.577-2083C>A
c.*3622-2083C>A (n.*3622-2083C>A)
c.3691G>T (p.Glu1231Ter)
c.2815G>T (p.Glu939Ter)
c.2164G>T (p.Glu722Ter)
c.1768G>T (p.Glu590Ter)
c.1510G>T (p.Glu504Ter)
10g.75028678A>CCA377292320DUSP29,KAT6Bc.3854A>C (p.Glu1285Ala)
c.3305A>C (p.Glu1102Ala)
c.2978A>C (p.Glu993Ala)
c.2789A>C (p.Glu930Ala)
n.577-2084T>G
c.*3622-2084T>G (n.*3622-2084T>G)
c.3692A>C (p.Glu1231Ala)
c.2816A>C (p.Glu939Ala)
c.2165A>C (p.Glu722Ala)
c.1769A>C (p.Glu590Ala)
c.1511A>C (p.Glu504Ala)
10g.75028678A>GCA377292322DUSP29,KAT6Bc.3854A>G (p.Glu1285Gly)
c.3305A>G (p.Glu1102Gly)
c.2978A>G (p.Glu993Gly)
c.2789A>G (p.Glu930Gly)
n.577-2084T>C
c.*3622-2084T>C (n.*3622-2084T>C)
c.3692A>G (p.Glu1231Gly)
c.2816A>G (p.Glu939Gly)
c.2165A>G (p.Glu722Gly)
c.1769A>G (p.Glu590Gly)
c.1511A>G (p.Glu504Gly)
10g.75028678A>TCA377292318DUSP29,KAT6Bc.3854A>T (p.Glu1285Val)
c.3305A>T (p.Glu1102Val)
c.2978A>T (p.Glu993Val)
c.2789A>T (p.Glu930Val)
n.577-2084T>A
c.*3622-2084T>A (n.*3622-2084T>A)
c.3692A>T (p.Glu1231Val)
c.2816A>T (p.Glu939Val)
c.2165A>T (p.Glu722Val)
c.1769A>T (p.Glu590Val)
c.1511A>T (p.Glu504Val)
10g.75028679G>ACA5564918DUSP29,KAT6Bc.3855G>A (p.Glu1285=)
c.3306G>A (p.Glu1102=)
c.2979G>A (p.Glu993=)
c.2790G>A (p.Glu930=)
n.577-2085C>T
c.*3622-2085C>T (n.*3622-2085C>T)
c.3693G>A (p.Glu1231=)
c.2817G>A (p.Glu939=)
c.2166G>A (p.Glu722=)
c.1770G>A (p.Glu590=)
c.1512G>A (p.Glu504=)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.75028679G>CCA377292325DUSP29,KAT6Bc.3855G>C (p.Glu1285Asp)
c.3306G>C (p.Glu1102Asp)
c.2979G>C (p.Glu993Asp)
c.2790G>C (p.Glu930Asp)
n.577-2085C>G
c.*3622-2085C>G (n.*3622-2085C>G)
c.3693G>C (p.Glu1231Asp)
c.2817G>C (p.Glu939Asp)
c.2166G>C (p.Glu722Asp)
c.1770G>C (p.Glu590Asp)
c.1512G>C (p.Glu504Asp)
10g.75028679G=CA1920306428DUSP29,KAT6Bc.3855G= (p.Glu1285=)
c.3306G= (p.Glu1102=)
c.2979G= (p.Glu993=)
c.2790G= (p.Glu930=)
n.577-2085C=
c.*3622-2085C= (n.*3622-2085C=)
c.3693G= (p.Glu1231=)
c.2817G= (p.Glu939=)
c.2166G= (p.Glu722=)
c.1770G= (p.Glu590=)
c.1512G= (p.Glu504=)
10g.75028679G>TCA377292327DUSP29,KAT6Bc.3855G>T (p.Glu1285Asp)
c.3306G>T (p.Glu1102Asp)
c.2979G>T (p.Glu993Asp)
c.2790G>T (p.Glu930Asp)
n.577-2085C>A
c.*3622-2085C>A (n.*3622-2085C>A)
c.3693G>T (p.Glu1231Asp)
c.2817G>T (p.Glu939Asp)
c.2166G>T (p.Glu722Asp)
c.1770G>T (p.Glu590Asp)
c.1512G>T (p.Glu504Asp)
 ClinVar gnomAD v4
10g.75028680C>ACA377292330DUSP29,KAT6Bc.3856C>A (p.Gln1286Lys)
c.3307C>A (p.Gln1103Lys)
c.2980C>A (p.Gln994Lys)
c.2791C>A (p.Gln931Lys)
n.577-2086G>T
c.*3622-2086G>T (n.*3622-2086G>T)
c.3694C>A (p.Gln1232Lys)
c.2818C>A (p.Gln940Lys)
c.2167C>A (p.Gln723Lys)
c.1771C>A (p.Gln591Lys)
c.1513C>A (p.Gln505Lys)
10g.75028680C>GCA377292334DUSP29,KAT6Bc.3856C>G (p.Gln1286Glu)
c.3307C>G (p.Gln1103Glu)
c.2980C>G (p.Gln994Glu)
c.2791C>G (p.Gln931Glu)
n.577-2086G>C
c.*3622-2086G>C (n.*3622-2086G>C)
c.3694C>G (p.Gln1232Glu)
c.2818C>G (p.Gln940Glu)
c.2167C>G (p.Gln723Glu)
c.1771C>G (p.Gln591Glu)
c.1513C>G (p.Gln505Glu)
10g.75028680C>TCA377292337DUSP29,KAT6Bc.3856C>T (p.Gln1286Ter)
c.3307C>T (p.Gln1103Ter)
c.2980C>T (p.Gln994Ter)
c.2791C>T (p.Gln931Ter)
n.577-2086G>A
c.*3622-2086G>A (n.*3622-2086G>A)
c.3694C>T (p.Gln1232Ter)
c.2818C>T (p.Gln940Ter)
c.2167C>T (p.Gln723Ter)
c.1771C>T (p.Gln591Ter)
c.1513C>T (p.Gln505Ter)
 ClinVar
10g.75028681delCA2573053306DUSP29,KAT6Bc.3857del (p.Gln1286ArgfsTer2)
c.3308del (p.Gln1103ArgfsTer2)
c.2981del (p.Gln994ArgfsTer2)
c.2792del (p.Gln931ArgfsTer2)
n.577-2087del
c.*3622-2087del (n.*3622-2087del)
c.3695del (p.Gln1232ArgfsTer2)
c.2819del (p.Gln940ArgfsTer2)
c.2168del (p.Gln723ArgfsTer2)
c.1772del (p.Gln591ArgfsTer2)
c.1514del (p.Gln505ArgfsTer2)
 ClinVar dbSNP
10g.75028681A>CCA377292341DUSP29,KAT6Bc.3857A>C (p.Gln1286Pro)
c.3308A>C (p.Gln1103Pro)
c.2981A>C (p.Gln994Pro)
c.2792A>C (p.Gln931Pro)
n.577-2087T>G
c.*3622-2087T>G (n.*3622-2087T>G)
c.3695A>C (p.Gln1232Pro)
c.2819A>C (p.Gln940Pro)
c.2168A>C (p.Gln723Pro)
c.1772A>C (p.Gln591Pro)
c.1514A>C (p.Gln505Pro)
10g.75028681A>GCA377292346DUSP29,KAT6Bc.3857A>G (p.Gln1286Arg)
c.3308A>G (p.Gln1103Arg)
c.2981A>G (p.Gln994Arg)
c.2792A>G (p.Gln931Arg)
n.577-2087T>C
c.*3622-2087T>C (n.*3622-2087T>C)
c.3695A>G (p.Gln1232Arg)
c.2819A>G (p.Gln940Arg)
c.2168A>G (p.Gln723Arg)
c.1772A>G (p.Gln591Arg)
c.1514A>G (p.Gln505Arg)
10g.75028681A>TCA377292344DUSP29,KAT6Bc.3857A>T (p.Gln1286Leu)
c.3308A>T (p.Gln1103Leu)
c.2981A>T (p.Gln994Leu)
c.2792A>T (p.Gln931Leu)
n.577-2087T>A
c.*3622-2087T>A (n.*3622-2087T>A)
c.3695A>T (p.Gln1232Leu)
c.2819A>T (p.Gln940Leu)
c.2168A>T (p.Gln723Leu)
c.1772A>T (p.Gln591Leu)
c.1514A>T (p.Gln505Leu)
10g.75028682G>ACA470299563DUSP29,KAT6Bc.3858G>A (p.Gln1286=)
c.3309G>A (p.Gln1103=)
c.2982G>A (p.Gln994=)
c.2793G>A (p.Gln931=)
n.577-2088C>T
c.*3622-2088C>T (n.*3622-2088C>T)
c.3696G>A (p.Gln1232=)
c.2820G>A (p.Gln940=)
c.2169G>A (p.Gln723=)
c.1773G>A (p.Gln591=)
c.1515G>A (p.Gln505=)
 gnomAD v4
10g.75028682G>CCA377292350DUSP29,KAT6Bc.3858G>C (p.Gln1286His)
c.3309G>C (p.Gln1103His)
c.2982G>C (p.Gln994His)
c.2793G>C (p.Gln931His)
n.577-2088C>G
c.*3622-2088C>G (n.*3622-2088C>G)
c.3696G>C (p.Gln1232His)
c.2820G>C (p.Gln940His)
c.2169G>C (p.Gln723His)
c.1773G>C (p.Gln591His)
c.1515G>C (p.Gln505His)
10g.75028682G>TCA377292353DUSP29,KAT6Bc.3858G>T (p.Gln1286His)
c.3309G>T (p.Gln1103His)
c.2982G>T (p.Gln994His)
c.2793G>T (p.Gln931His)
n.577-2088C>A
c.*3622-2088C>A (n.*3622-2088C>A)
c.3696G>T (p.Gln1232His)
c.2820G>T (p.Gln940His)
c.2169G>T (p.Gln723His)
c.1773G>T (p.Gln591His)
c.1515G>T (p.Gln505His)
10g.75028683G>ACA377292357DUSP29,KAT6Bc.3859G>A (p.Val1287Ile)
c.3310G>A (p.Val1104Ile)
c.2983G>A (p.Val995Ile)
c.2794G>A (p.Val932Ile)
n.577-2089C>T
c.*3622-2089C>T (n.*3622-2089C>T)
c.3697G>A (p.Val1233Ile)
c.2821G>A (p.Val941Ile)
c.2170G>A (p.Val724Ile)
c.1774G>A (p.Val592Ile)
c.1516G>A (p.Val506Ile)
 gnomAD v4
10g.75028683G>CCA377292360DUSP29,KAT6Bc.3859G>C (p.Val1287Leu)
c.3310G>C (p.Val1104Leu)
c.2983G>C (p.Val995Leu)
c.2794G>C (p.Val932Leu)
n.577-2089C>G
c.*3622-2089C>G (n.*3622-2089C>G)
c.3697G>C (p.Val1233Leu)
c.2821G>C (p.Val941Leu)
c.2170G>C (p.Val724Leu)
c.1774G>C (p.Val592Leu)
c.1516G>C (p.Val506Leu)
10g.75028683G>TCA377292362DUSP29,KAT6Bc.3859G>T (p.Val1287Leu)
c.3310G>T (p.Val1104Leu)
c.2983G>T (p.Val995Leu)
c.2794G>T (p.Val932Leu)
n.577-2089C>A
c.*3622-2089C>A (n.*3622-2089C>A)
c.3697G>T (p.Val1233Leu)
c.2821G>T (p.Val941Leu)
c.2170G>T (p.Val724Leu)
c.1774G>T (p.Val592Leu)
c.1516G>T (p.Val506Leu)
10g.75028684T>ACA377292370DUSP29,KAT6Bc.3860T>A (p.Val1287Glu)
c.3311T>A (p.Val1104Glu)
c.2984T>A (p.Val995Glu)
c.2795T>A (p.Val932Glu)
n.577-2090A>T
c.*3622-2090A>T (n.*3622-2090A>T)
c.3698T>A (p.Val1233Glu)
c.2822T>A (p.Val941Glu)
c.2171T>A (p.Val724Glu)
c.1775T>A (p.Val592Glu)
c.1517T>A (p.Val506Glu)
10g.75028684T>CCA377292372DUSP29,KAT6Bc.3860T>C (p.Val1287Ala)
c.3311T>C (p.Val1104Ala)
c.2984T>C (p.Val995Ala)
c.2795T>C (p.Val932Ala)
n.577-2090A>G
c.*3622-2090A>G (n.*3622-2090A>G)
c.3698T>C (p.Val1233Ala)
c.2822T>C (p.Val941Ala)
c.2171T>C (p.Val724Ala)
c.1775T>C (p.Val592Ala)
c.1517T>C (p.Val506Ala)
10g.75028684T>GCA377292367DUSP29,KAT6Bc.3860T>G (p.Val1287Gly)
c.3311T>G (p.Val1104Gly)
c.2984T>G (p.Val995Gly)
c.2795T>G (p.Val932Gly)
n.577-2090A>C
c.*3622-2090A>C (n.*3622-2090A>C)
c.3698T>G (p.Val1233Gly)
c.2822T>G (p.Val941Gly)
c.2171T>G (p.Val724Gly)
c.1775T>G (p.Val592Gly)
c.1517T>G (p.Val506Gly)
10g.75028684_75028687delCA2695212198DUSP29,KAT6Bc.3860_3863del (p.Val1287GlufsTer?)
c.3311_3314del (p.Val1104GlufsTer?)
c.2984_2987del (p.Val995GlufsTer?)
c.2795_2798del (p.Val932GlufsTer?)
n.577-2093_577-2090del
c.*3622-2093_*3622-2090del (n.*3622-2093_*3622-2090del)
c.3698_3701del (p.Val1233GlufsTer?)
c.2822_2825del (p.Val941GlufsTer?)
c.2171_2174del (p.Val724GlufsTer?)
c.1775_1778del (p.Val592GlufsTer?)
c.1517_1520del (p.Val506GlufsTer?)
10g.75028685A>CCA470299566DUSP29,KAT6Bc.3861A>C (p.Val1287=)
c.3312A>C (p.Val1104=)
c.2985A>C (p.Val995=)
c.2796A>C (p.Val932=)
n.577-2091T>G
c.*3622-2091T>G (n.*3622-2091T>G)
c.3699A>C (p.Val1233=)
c.2823A>C (p.Val941=)
c.2172A>C (p.Val724=)
c.1776A>C (p.Val592=)
c.1518A>C (p.Val506=)
10g.75028685A>GCA470299565DUSP29,KAT6Bc.3861A>G (p.Val1287=)
c.3312A>G (p.Val1104=)
c.2985A>G (p.Val995=)
c.2796A>G (p.Val932=)
n.577-2091T>C
c.*3622-2091T>C (n.*3622-2091T>C)
c.3699A>G (p.Val1233=)
c.2823A>G (p.Val941=)
c.2172A>G (p.Val724=)
c.1776A>G (p.Val592=)
c.1518A>G (p.Val506=)
10g.75028685A>TCA470299564DUSP29,KAT6Bc.3861A>T (p.Val1287=)
c.3312A>T (p.Val1104=)
c.2985A>T (p.Val995=)
c.2796A>T (p.Val932=)
n.577-2091T>A
c.*3622-2091T>A (n.*3622-2091T>A)
c.3699A>T (p.Val1233=)
c.2823A>T (p.Val941=)
c.2172A>T (p.Val724=)
c.1776A>T (p.Val592=)
c.1518A>T (p.Val506=)
10g.75028686A>CCA377292377DUSP29,KAT6Bc.3862A>C (p.Thr1288Pro)
c.3313A>C (p.Thr1105Pro)
c.2986A>C (p.Thr996Pro)
c.2797A>C (p.Thr933Pro)
n.577-2092T>G
c.*3622-2092T>G (n.*3622-2092T>G)
c.3700A>C (p.Thr1234Pro)
c.2824A>C (p.Thr942Pro)
c.2173A>C (p.Thr725Pro)
c.1777A>C (p.Thr593Pro)
c.1519A>C (p.Thr507Pro)
10g.75028686A>GCA377292384DUSP29,KAT6Bc.3862A>G (p.Thr1288Ala)
c.3313A>G (p.Thr1105Ala)
c.2986A>G (p.Thr996Ala)
c.2797A>G (p.Thr933Ala)
n.577-2092T>C
c.*3622-2092T>C (n.*3622-2092T>C)
c.3700A>G (p.Thr1234Ala)
c.2824A>G (p.Thr942Ala)
c.2173A>G (p.Thr725Ala)
c.1777A>G (p.Thr593Ala)
c.1519A>G (p.Thr507Ala)
10g.75028686A>TCA377292380DUSP29,KAT6Bc.3862A>T (p.Thr1288Ser)
c.3313A>T (p.Thr1105Ser)
c.2986A>T (p.Thr996Ser)
c.2797A>T (p.Thr933Ser)
n.577-2092T>A
c.*3622-2092T>A (n.*3622-2092T>A)
c.3700A>T (p.Thr1234Ser)
c.2824A>T (p.Thr942Ser)
c.2173A>T (p.Thr725Ser)
c.1777A>T (p.Thr593Ser)
c.1519A>T (p.Thr507Ser)
10g.75028687C>ACA377292388DUSP29,KAT6Bc.3863C>A (p.Thr1288Lys)
c.3314C>A (p.Thr1105Lys)
c.2987C>A (p.Thr996Lys)
c.2798C>A (p.Thr933Lys)
n.577-2093G>T
c.*3622-2093G>T (n.*3622-2093G>T)
c.3701C>A (p.Thr1234Lys)
c.2825C>A (p.Thr942Lys)
c.2174C>A (p.Thr725Lys)
c.1778C>A (p.Thr593Lys)
c.1520C>A (p.Thr507Lys)
 gnomAD v4
10g.75028687C>GCA377292392DUSP29,KAT6Bc.3863C>G (p.Thr1288Arg)
c.3314C>G (p.Thr1105Arg)
c.2987C>G (p.Thr996Arg)
c.2798C>G (p.Thr933Arg)
n.577-2093G>C
c.*3622-2093G>C (n.*3622-2093G>C)
c.3701C>G (p.Thr1234Arg)
c.2825C>G (p.Thr942Arg)
c.2174C>G (p.Thr725Arg)
c.1778C>G (p.Thr593Arg)
c.1520C>G (p.Thr507Arg)
10g.75028687C>TCA377292390DUSP29,KAT6Bc.3863C>T (p.Thr1288Ile)
c.3314C>T (p.Thr1105Ile)
c.2987C>T (p.Thr996Ile)
c.2798C>T (p.Thr933Ile)
n.577-2093G>A
c.*3622-2093G>A (n.*3622-2093G>A)
c.3701C>T (p.Thr1234Ile)
c.2825C>T (p.Thr942Ile)
c.2174C>T (p.Thr725Ile)
c.1778C>T (p.Thr593Ile)
c.1520C>T (p.Thr507Ile)
 gnomAD v4
10g.75028688A>CCA470299567DUSP29,KAT6Bc.3864A>C (p.Thr1288=)
c.3315A>C (p.Thr1105=)
c.2988A>C (p.Thr996=)
c.2799A>C (p.Thr933=)
n.577-2094T>G
c.*3622-2094T>G (n.*3622-2094T>G)
c.3702A>C (p.Thr1234=)
c.2826A>C (p.Thr942=)
c.2175A>C (p.Thr725=)
c.1779A>C (p.Thr593=)
c.1521A>C (p.Thr507=)
10g.75028688A>GCA470299568DUSP29,KAT6Bc.3864A>G (p.Thr1288=)
c.3315A>G (p.Thr1105=)
c.2988A>G (p.Thr996=)
c.2799A>G (p.Thr933=)
n.577-2094T>C
c.*3622-2094T>C (n.*3622-2094T>C)
c.3702A>G (p.Thr1234=)
c.2826A>G (p.Thr942=)
c.2175A>G (p.Thr725=)
c.1779A>G (p.Thr593=)
c.1521A>G (p.Thr507=)
10g.75028688A>TCA470299569DUSP29,KAT6Bc.3864A>T (p.Thr1288=)
c.3315A>T (p.Thr1105=)
c.2988A>T (p.Thr996=)
c.2799A>T (p.Thr933=)
n.577-2094T>A
c.*3622-2094T>A (n.*3622-2094T>A)
c.3702A>T (p.Thr1234=)
c.2826A>T (p.Thr942=)
c.2175A>T (p.Thr725=)
c.1779A>T (p.Thr593=)
c.1521A>T (p.Thr507=)
 gnomAD v4
10g.75028689G>ACA377292397DUSP29,KAT6Bc.3865G>A (p.Val1289Met)
c.3316G>A (p.Val1106Met)
c.2989G>A (p.Val997Met)
c.2800G>A (p.Val934Met)
n.577-2095C>T
c.*3622-2095C>T (n.*3622-2095C>T)
c.3703G>A (p.Val1235Met)
c.2827G>A (p.Val943Met)
c.2176G>A (p.Val726Met)
c.1780G>A (p.Val594Met)
c.1522G>A (p.Val508Met)
 gnomAD v4
10g.75028689G>CCA377292399DUSP29,KAT6Bc.3865G>C (p.Val1289Leu)
c.3316G>C (p.Val1106Leu)
c.2989G>C (p.Val997Leu)
c.2800G>C (p.Val934Leu)
n.577-2095C>G
c.*3622-2095C>G (n.*3622-2095C>G)
c.3703G>C (p.Val1235Leu)
c.2827G>C (p.Val943Leu)
c.2176G>C (p.Val726Leu)
c.1780G>C (p.Val594Leu)
c.1522G>C (p.Val508Leu)
10g.75028689G>TCA377292401DUSP29,KAT6Bc.3865G>T (p.Val1289Leu)
c.3316G>T (p.Val1106Leu)
c.2989G>T (p.Val997Leu)
c.2800G>T (p.Val934Leu)
n.577-2095C>A
c.*3622-2095C>A (n.*3622-2095C>A)
c.3703G>T (p.Val1235Leu)
c.2827G>T (p.Val943Leu)
c.2176G>T (p.Val726Leu)
c.1780G>T (p.Val594Leu)
c.1522G>T (p.Val508Leu)
10g.75028690T>ACA377292403DUSP29,KAT6Bc.3866T>A (p.Val1289Glu)
c.3317T>A (p.Val1106Glu)
c.2990T>A (p.Val997Glu)
c.2801T>A (p.Val934Glu)
n.577-2096A>T
c.*3622-2096A>T (n.*3622-2096A>T)
c.3704T>A (p.Val1235Glu)
c.2828T>A (p.Val943Glu)
c.2177T>A (p.Val726Glu)
c.1781T>A (p.Val594Glu)
c.1523T>A (p.Val508Glu)
10g.75028690T>CCA377292407DUSP29,KAT6Bc.3866T>C (p.Val1289Ala)
c.3317T>C (p.Val1106Ala)
c.2990T>C (p.Val997Ala)
c.2801T>C (p.Val934Ala)
n.577-2096A>G
c.*3622-2096A>G (n.*3622-2096A>G)
c.3704T>C (p.Val1235Ala)
c.2828T>C (p.Val943Ala)
c.2177T>C (p.Val726Ala)
c.1781T>C (p.Val594Ala)
c.1523T>C (p.Val508Ala)
10g.75028690T>GCA377292409DUSP29,KAT6Bc.3866T>G (p.Val1289Gly)
c.3317T>G (p.Val1106Gly)
c.2990T>G (p.Val997Gly)
c.2801T>G (p.Val934Gly)
n.577-2096A>C
c.*3622-2096A>C (n.*3622-2096A>C)
c.3704T>G (p.Val1235Gly)
c.2828T>G (p.Val943Gly)
c.2177T>G (p.Val726Gly)
c.1781T>G (p.Val594Gly)
c.1523T>G (p.Val508Gly)
10g.75028691G>ACA470299570DUSP29,KAT6Bc.3867G>A (p.Val1289=)
c.3318G>A (p.Val1106=)
c.2991G>A (p.Val997=)
c.2802G>A (p.Val934=)
n.577-2097C>T
c.*3622-2097C>T (n.*3622-2097C>T)
c.3705G>A (p.Val1235=)
c.2829G>A (p.Val943=)
c.2178G>A (p.Val726=)
c.1782G>A (p.Val594=)
c.1524G>A (p.Val508=)
 gnomAD v4
10g.75028691G>CCA470299571DUSP29,KAT6Bc.3867G>C (p.Val1289=)
c.3318G>C (p.Val1106=)
c.2991G>C (p.Val997=)
c.2802G>C (p.Val934=)
n.577-2097C>G
c.*3622-2097C>G (n.*3622-2097C>G)
c.3705G>C (p.Val1235=)
c.2829G>C (p.Val943=)
c.2178G>C (p.Val726=)
c.1782G>C (p.Val594=)
c.1524G>C (p.Val508=)
10g.75028691G>TCA470299572DUSP29,KAT6Bc.3867G>T (p.Val1289=)
c.3318G>T (p.Val1106=)
c.2991G>T (p.Val997=)
c.2802G>T (p.Val934=)
n.577-2097C>A
c.*3622-2097C>A (n.*3622-2097C>A)
c.3705G>T (p.Val1235=)
c.2829G>T (p.Val943=)
c.2178G>T (p.Val726=)
c.1782G>T (p.Val594=)
c.1524G>T (p.Val508=)
10g.75028692G>ACA377292420DUSP29,KAT6Bc.3868G>A (p.Glu1290Lys)
c.3319G>A (p.Glu1107Lys)
c.2992G>A (p.Glu998Lys)
c.2803G>A (p.Glu935Lys)
n.577-2098C>T
c.*3622-2098C>T (n.*3622-2098C>T)
c.3706G>A (p.Glu1236Lys)
c.2830G>A (p.Glu944Lys)
c.2179G>A (p.Glu727Lys)
c.1783G>A (p.Glu595Lys)
c.1525G>A (p.Glu509Lys)
10g.75028692G>CCA377292414DUSP29,KAT6Bc.3868G>C (p.Glu1290Gln)
c.3319G>C (p.Glu1107Gln)
c.2992G>C (p.Glu998Gln)
c.2803G>C (p.Glu935Gln)
n.577-2098C>G
c.*3622-2098C>G (n.*3622-2098C>G)
c.3706G>C (p.Glu1236Gln)
c.2830G>C (p.Glu944Gln)
c.2179G>C (p.Glu727Gln)
c.1783G>C (p.Glu595Gln)
c.1525G>C (p.Glu509Gln)
10g.75028692G>TCA377292417DUSP29,KAT6Bc.3868G>T (p.Glu1290Ter)
c.3319G>T (p.Glu1107Ter)
c.2992G>T (p.Glu998Ter)
c.2803G>T (p.Glu935Ter)
n.577-2098C>A
c.*3622-2098C>A (n.*3622-2098C>A)
c.3706G>T (p.Glu1236Ter)
c.2830G>T (p.Glu944Ter)
c.2179G>T (p.Glu727Ter)
c.1783G>T (p.Glu595Ter)
c.1525G>T (p.Glu509Ter)
10g.75028693A>CCA377292424DUSP29,KAT6Bc.3869A>C (p.Glu1290Ala)
c.3320A>C (p.Glu1107Ala)
c.2993A>C (p.Glu998Ala)
c.2804A>C (p.Glu935Ala)
n.577-2099T>G
c.*3622-2099T>G (n.*3622-2099T>G)
c.3707A>C (p.Glu1236Ala)
c.2831A>C (p.Glu944Ala)
c.2180A>C (p.Glu727Ala)
c.1784A>C (p.Glu595Ala)
c.1526A>C (p.Glu509Ala)
10g.75028693A>GCA377292426DUSP29,KAT6Bc.3869A>G (p.Glu1290Gly)
c.3320A>G (p.Glu1107Gly)
c.2993A>G (p.Glu998Gly)
c.2804A>G (p.Glu935Gly)
n.577-2099T>C
c.*3622-2099T>C (n.*3622-2099T>C)
c.3707A>G (p.Glu1236Gly)
c.2831A>G (p.Glu944Gly)
c.2180A>G (p.Glu727Gly)
c.1784A>G (p.Glu595Gly)
c.1526A>G (p.Glu509Gly)
10g.75028693A>TCA377292431DUSP29,KAT6Bc.3869A>T (p.Glu1290Val)
c.3320A>T (p.Glu1107Val)
c.2993A>T (p.Glu998Val)
c.2804A>T (p.Glu935Val)
n.577-2099T>A
c.*3622-2099T>A (n.*3622-2099T>A)
c.3707A>T (p.Glu1236Val)
c.2831A>T (p.Glu944Val)
c.2180A>T (p.Glu727Val)
c.1784A>T (p.Glu595Val)
c.1526A>T (p.Glu509Val)
10g.75028694A>CCA377292435DUSP29,KAT6Bc.3870A>C (p.Glu1290Asp)
c.3321A>C (p.Glu1107Asp)
c.2994A>C (p.Glu998Asp)
c.2805A>C (p.Glu935Asp)
n.577-2100T>G
c.*3622-2100T>G (n.*3622-2100T>G)
c.3708A>C (p.Glu1236Asp)
c.2832A>C (p.Glu944Asp)
c.2181A>C (p.Glu727Asp)
c.1785A>C (p.Glu595Asp)
c.1527A>C (p.Glu509Asp)
10g.75028694A>GCA470299573DUSP29,KAT6Bc.3870A>G (p.Glu1290=)
c.3321A>G (p.Glu1107=)
c.2994A>G (p.Glu998=)
c.2805A>G (p.Glu935=)
n.577-2100T>C
c.*3622-2100T>C (n.*3622-2100T>C)
c.3708A>G (p.Glu1236=)
c.2832A>G (p.Glu944=)
c.2181A>G (p.Glu727=)
c.1785A>G (p.Glu595=)
c.1527A>G (p.Glu509=)
10g.75028694A>TCA377292437DUSP29,KAT6Bc.3870A>T (p.Glu1290Asp)
c.3321A>T (p.Glu1107Asp)
c.2994A>T (p.Glu998Asp)
c.2805A>T (p.Glu935Asp)
n.577-2100T>A
c.*3622-2100T>A (n.*3622-2100T>A)
c.3708A>T (p.Glu1236Asp)
c.2832A>T (p.Glu944Asp)
c.2181A>T (p.Glu727Asp)
c.1785A>T (p.Glu595Asp)
c.1527A>T (p.Glu509Asp)
10g.75028695G>ACA377292440DUSP29,KAT6Bc.3871G>A (p.Glu1291Lys)
c.3322G>A (p.Glu1108Lys)
c.2995G>A (p.Glu999Lys)
c.2806G>A (p.Glu936Lys)
n.577-2101C>T
c.*3622-2101C>T (n.*3622-2101C>T)
c.3709G>A (p.Glu1237Lys)
c.2833G>A (p.Glu945Lys)
c.2182G>A (p.Glu728Lys)
c.1786G>A (p.Glu596Lys)
c.1528G>A (p.Glu510Lys)
10g.75028695G>CCA377292447DUSP29,KAT6Bc.3871G>C (p.Glu1291Gln)
c.3322G>C (p.Glu1108Gln)
c.2995G>C (p.Glu999Gln)
c.2806G>C (p.Glu936Gln)
n.577-2101C>G
c.*3622-2101C>G (n.*3622-2101C>G)
c.3709G>C (p.Glu1237Gln)
c.2833G>C (p.Glu945Gln)
c.2182G>C (p.Glu728Gln)
c.1786G>C (p.Glu596Gln)
c.1528G>C (p.Glu510Gln)
10g.75028695G>TCA377292445DUSP29,KAT6Bc.3871G>T (p.Glu1291Ter)
c.3322G>T (p.Glu1108Ter)
c.2995G>T (p.Glu999Ter)
c.2806G>T (p.Glu936Ter)
n.577-2101C>A
c.*3622-2101C>A (n.*3622-2101C>A)
c.3709G>T (p.Glu1237Ter)
c.2833G>T (p.Glu945Ter)
c.2182G>T (p.Glu728Ter)
c.1786G>T (p.Glu596Ter)
c.1528G>T (p.Glu510Ter)
10g.75028696A>CCA377292451DUSP29,KAT6Bc.3872A>C (p.Glu1291Ala)
c.3323A>C (p.Glu1108Ala)
c.2996A>C (p.Glu999Ala)
c.2807A>C (p.Glu936Ala)
n.577-2102T>G
c.*3622-2102T>G (n.*3622-2102T>G)
c.3710A>C (p.Glu1237Ala)
c.2834A>C (p.Glu945Ala)
c.2183A>C (p.Glu728Ala)
c.1787A>C (p.Glu596Ala)
c.1529A>C (p.Glu510Ala)
10g.75028696A>GCA377292454DUSP29,KAT6Bc.3872A>G (p.Glu1291Gly)
c.3323A>G (p.Glu1108Gly)
c.2996A>G (p.Glu999Gly)
c.2807A>G (p.Glu936Gly)
n.577-2102T>C
c.*3622-2102T>C (n.*3622-2102T>C)
c.3710A>G (p.Glu1237Gly)
c.2834A>G (p.Glu945Gly)
c.2183A>G (p.Glu728Gly)
c.1787A>G (p.Glu596Gly)
c.1529A>G (p.Glu510Gly)
10g.75028696A>TCA377292457DUSP29,KAT6Bc.3872A>T (p.Glu1291Val)
c.3323A>T (p.Glu1108Val)
c.2996A>T (p.Glu999Val)
c.2807A>T (p.Glu936Val)
n.577-2102T>A
c.*3622-2102T>A (n.*3622-2102T>A)
c.3710A>T (p.Glu1237Val)
c.2834A>T (p.Glu945Val)
c.2183A>T (p.Glu728Val)
c.1787A>T (p.Glu596Val)
c.1529A>T (p.Glu510Val)
10g.75028697A>CCA377292461DUSP29,KAT6Bc.3873A>C (p.Glu1291Asp)
c.3324A>C (p.Glu1108Asp)
c.2997A>C (p.Glu999Asp)
c.2808A>C (p.Glu936Asp)
n.577-2103T>G
c.*3622-2103T>G (n.*3622-2103T>G)
c.3711A>C (p.Glu1237Asp)
c.2835A>C (p.Glu945Asp)
c.2184A>C (p.Glu728Asp)
c.1788A>C (p.Glu596Asp)
c.1530A>C (p.Glu510Asp)
10g.75028697A>GCA470299574DUSP29,KAT6Bc.3873A>G (p.Glu1291=)
c.3324A>G (p.Glu1108=)
c.2997A>G (p.Glu999=)
c.2808A>G (p.Glu936=)
n.577-2103T>C
c.*3622-2103T>C (n.*3622-2103T>C)
c.3711A>G (p.Glu1237=)
c.2835A>G (p.Glu945=)
c.2184A>G (p.Glu728=)
c.1788A>G (p.Glu596=)
c.1530A>G (p.Glu510=)
10g.75028697A>TCA377292462DUSP29,KAT6Bc.3873A>T (p.Glu1291Asp)
c.3324A>T (p.Glu1108Asp)
c.2997A>T (p.Glu999Asp)
c.2808A>T (p.Glu936Asp)
n.577-2103T>A
c.*3622-2103T>A (n.*3622-2103T>A)
c.3711A>T (p.Glu1237Asp)
c.2835A>T (p.Glu945Asp)
c.2184A>T (p.Glu728Asp)
c.1788A>T (p.Glu596Asp)
c.1530A>T (p.Glu510Asp)
10g.75028698C>ACA377292465DUSP29,KAT6Bc.3874C>A (p.Gln1292Lys)
c.3325C>A (p.Gln1109Lys)
c.2998C>A (p.Gln1000Lys)
c.2809C>A (p.Gln937Lys)
n.577-2104G>T
c.*3622-2104G>T (n.*3622-2104G>T)
c.3712C>A (p.Gln1238Lys)
c.2836C>A (p.Gln946Lys)
c.2185C>A (p.Gln729Lys)
c.1789C>A (p.Gln597Lys)
c.1531C>A (p.Gln511Lys)
10g.75028698C>GCA377292466DUSP29,KAT6Bc.3874C>G (p.Gln1292Glu)
c.3325C>G (p.Gln1109Glu)
c.2998C>G (p.Gln1000Glu)
c.2809C>G (p.Gln937Glu)
n.577-2104G>C
c.*3622-2104G>C (n.*3622-2104G>C)
c.3712C>G (p.Gln1238Glu)
c.2836C>G (p.Gln946Glu)
c.2185C>G (p.Gln729Glu)
c.1789C>G (p.Gln597Glu)
c.1531C>G (p.Gln511Glu)
10g.75028698C>TCA377292467DUSP29,KAT6Bc.3874C>T (p.Gln1292Ter)
c.3325C>T (p.Gln1109Ter)
c.2998C>T (p.Gln1000Ter)
c.2809C>T (p.Gln937Ter)
n.577-2104G>A
c.*3622-2104G>A (n.*3622-2104G>A)
c.3712C>T (p.Gln1238Ter)
c.2836C>T (p.Gln946Ter)
c.2185C>T (p.Gln729Ter)
c.1789C>T (p.Gln597Ter)
c.1531C>T (p.Gln511Ter)
10g.75028699A>CCA377292468DUSP29,KAT6Bc.3875A>C (p.Gln1292Pro)
c.3326A>C (p.Gln1109Pro)
c.2999A>C (p.Gln1000Pro)
c.2810A>C (p.Gln937Pro)
n.577-2105T>G
c.*3622-2105T>G (n.*3622-2105T>G)
c.3713A>C (p.Gln1238Pro)
c.2837A>C (p.Gln946Pro)
c.2186A>C (p.Gln729Pro)
c.1790A>C (p.Gln597Pro)
c.1532A>C (p.Gln511Pro)
10g.75028699A>GCA377292469DUSP29,KAT6Bc.3875A>G (p.Gln1292Arg)
c.3326A>G (p.Gln1109Arg)
c.2999A>G (p.Gln1000Arg)
c.2810A>G (p.Gln937Arg)
n.577-2105T>C
c.*3622-2105T>C (n.*3622-2105T>C)
c.3713A>G (p.Gln1238Arg)
c.2837A>G (p.Gln946Arg)
c.2186A>G (p.Gln729Arg)
c.1790A>G (p.Gln597Arg)
c.1532A>G (p.Gln511Arg)
10g.75028699A>TCA377292470DUSP29,KAT6Bc.3875A>T (p.Gln1292Leu)
c.3326A>T (p.Gln1109Leu)
c.2999A>T (p.Gln1000Leu)
c.2810A>T (p.Gln937Leu)
n.577-2105T>A
c.*3622-2105T>A (n.*3622-2105T>A)
c.3713A>T (p.Gln1238Leu)
c.2837A>T (p.Gln946Leu)
c.2186A>T (p.Gln729Leu)
c.1790A>T (p.Gln597Leu)
c.1532A>T (p.Gln511Leu)
10g.75028701_75028703delCA2609745696DUSP29,KAT6Bc.3877_3879del (p.Lys1293del)
c.3328_3330del (p.Lys1110del)
c.3001_3003del (p.Lys1001del)
c.2812_2814del (p.Lys938del)
n.577-2107_577-2105del
c.*3622-2107_*3622-2105del (n.*3622-2107_*3622-2105del)
c.3715_3717del (p.Lys1239del)
c.2839_2841del (p.Lys947del)
c.2188_2190del (p.Lys730del)
c.1792_1794del (p.Lys598del)
c.1534_1536del (p.Lys512del)
 dbSNP gnomAD v4
10g.75028700G>ACA470299575DUSP29,KAT6Bc.3876G>A (p.Gln1292=)
c.3327G>A (p.Gln1109=)
c.3000G>A (p.Gln1000=)
c.2811G>A (p.Gln937=)
n.577-2106C>T
c.*3622-2106C>T (n.*3622-2106C>T)
c.3714G>A (p.Gln1238=)
c.2838G>A (p.Gln946=)
c.2187G>A (p.Gln729=)
c.1791G>A (p.Gln597=)
c.1533G>A (p.Gln511=)
10g.75028700G>CCA377292471DUSP29,KAT6Bc.3876G>C (p.Gln1292His)
c.3327G>C (p.Gln1109His)
c.3000G>C (p.Gln1000His)
c.2811G>C (p.Gln937His)
n.577-2106C>G
c.*3622-2106C>G (n.*3622-2106C>G)
c.3714G>C (p.Gln1238His)
c.2838G>C (p.Gln946His)
c.2187G>C (p.Gln729His)
c.1791G>C (p.Gln597His)
c.1533G>C (p.Gln511His)
10g.75028700G>TCA377292472DUSP29,KAT6Bc.3876G>T (p.Gln1292His)
c.3327G>T (p.Gln1109His)
c.3000G>T (p.Gln1000His)
c.2811G>T (p.Gln937His)
n.577-2106C>A
c.*3622-2106C>A (n.*3622-2106C>A)
c.3714G>T (p.Gln1238His)
c.2838G>T (p.Gln946His)
c.2187G>T (p.Gln729His)
c.1791G>T (p.Gln597His)
c.1533G>T (p.Gln511His)
10g.75028701A=CA1920306429DUSP29,KAT6Bc.3877A= (p.Lys1293=)
c.3328A= (p.Lys1110=)
c.3001A= (p.Lys1001=)
c.2812A= (p.Lys938=)
n.577-2107T=
c.*3622-2107T= (n.*3622-2107T=)
c.3715A= (p.Lys1239=)
c.2839A= (p.Lys947=)
c.2188A= (p.Lys730=)
c.1792A= (p.Lys598=)
c.1534A= (p.Lys512=)
10g.75028701A>CCA377292474DUSP29,KAT6Bc.3877A>C (p.Lys1293Gln)
c.3328A>C (p.Lys1110Gln)
c.3001A>C (p.Lys1001Gln)
c.2812A>C (p.Lys938Gln)
n.577-2107T>G
c.*3622-2107T>G (n.*3622-2107T>G)
c.3715A>C (p.Lys1239Gln)
c.2839A>C (p.Lys947Gln)
c.2188A>C (p.Lys730Gln)
c.1792A>C (p.Lys598Gln)
c.1534A>C (p.Lys512Gln)
10g.75028701A>GCA377292476DUSP29,KAT6Bc.3877A>G (p.Lys1293Glu)
c.3328A>G (p.Lys1110Glu)
c.3001A>G (p.Lys1001Glu)
c.2812A>G (p.Lys938Glu)
n.577-2107T>C
c.*3622-2107T>C (n.*3622-2107T>C)
c.3715A>G (p.Lys1239Glu)
c.2839A>G (p.Lys947Glu)
c.2188A>G (p.Lys730Glu)
c.1792A>G (p.Lys598Glu)
c.1534A>G (p.Lys512Glu)
 ClinVar
10g.75028701A>TCA232609DUSP29,KAT6Bc.3877A>T (p.Lys1293Ter)
c.3328A>T (p.Lys1110Ter)
c.3001A>T (p.Lys1001Ter)
c.2812A>T (p.Lys938Ter)
n.577-2107T>A
c.*3622-2107T>A (n.*3622-2107T>A)
c.3715A>T (p.Lys1239Ter)
c.2839A>T (p.Lys947Ter)
c.2188A>T (p.Lys730Ter)
c.1792A>T (p.Lys598Ter)
c.1534A>T (p.Lys512Ter)
 ClinVar dbSNP
10g.75028701_75028704delinsAAGGCA1920306430DUSP29,KAT6Bc.3877_3880delinsAAGG (p.Lys1293=)
c.3328_3331delinsAAGG (p.Lys1110=)
c.3001_3004delinsAAGG (p.Lys1001=)
c.2812_2815delinsAAGG (p.Lys938=)
n.577-2110_577-2107delinsCCTT
c.*3622-2110_*3622-2107delinsCCTT (n.*3622-2110_*3622-2107delinsCCTT)
c.3715_3718delinsAAGG (p.Lys1239=)
c.2839_2842delinsAAGG (p.Lys947=)
c.2188_2191delinsAAGG (p.Lys730=)
c.1792_1795delinsAAGG (p.Lys598=)
c.1534_1537delinsAAGG (p.Lys512=)
10g.75028702A>CCA377292479DUSP29,KAT6Bc.3878A>C (p.Lys1293Thr)
c.3329A>C (p.Lys1110Thr)
c.3002A>C (p.Lys1001Thr)
c.2813A>C (p.Lys938Thr)
n.577-2108T>G
c.*3622-2108T>G (n.*3622-2108T>G)
c.3716A>C (p.Lys1239Thr)
c.2840A>C (p.Lys947Thr)
c.2189A>C (p.Lys730Thr)
c.1793A>C (p.Lys598Thr)
c.1535A>C (p.Lys512Thr)
10g.75028702A>GCA377292481DUSP29,KAT6Bc.3878A>G (p.Lys1293Arg)
c.3329A>G (p.Lys1110Arg)
c.3002A>G (p.Lys1001Arg)
c.2813A>G (p.Lys938Arg)
n.577-2108T>C
c.*3622-2108T>C (n.*3622-2108T>C)
c.3716A>G (p.Lys1239Arg)
c.2840A>G (p.Lys947Arg)
c.2189A>G (p.Lys730Arg)
c.1793A>G (p.Lys598Arg)
c.1535A>G (p.Lys512Arg)
10g.75028702A>TCA377292483DUSP29,KAT6Bc.3878A>T (p.Lys1293Met)
c.3329A>T (p.Lys1110Met)
c.3002A>T (p.Lys1001Met)
c.2813A>T (p.Lys938Met)
n.577-2108T>A
c.*3622-2108T>A (n.*3622-2108T>A)
c.3716A>T (p.Lys1239Met)
c.2840A>T (p.Lys947Met)
c.2189A>T (p.Lys730Met)
c.1793A>T (p.Lys598Met)
c.1535A>T (p.Lys512Met)
10g.75028704_75028706delCA1920306431DUSP29,KAT6Bc.3880_3882del (p.Glu1294del)
c.3331_3333del (p.Glu1111del)
c.3004_3006del (p.Glu1002del)
c.2815_2817del (p.Glu939del)
n.577-2110_577-2108del
c.*3622-2110_*3622-2108del (n.*3622-2110_*3622-2108del)
c.3718_3720del (p.Glu1240del)
c.2842_2844del (p.Glu948del)
c.2191_2193del (p.Glu731del)
c.1795_1797del (p.Glu599del)
c.1537_1539del (p.Glu513del)
 dbSNP
10g.75028703G>ACA470299576DUSP29,KAT6Bc.3879G>A (p.Lys1293=)
c.3330G>A (p.Lys1110=)
c.3003G>A (p.Lys1001=)
c.2814G>A (p.Lys938=)
n.577-2109C>T
c.*3622-2109C>T (n.*3622-2109C>T)
c.3717G>A (p.Lys1239=)
c.2841G>A (p.Lys947=)
c.2190G>A (p.Lys730=)
c.1794G>A (p.Lys598=)
c.1536G>A (p.Lys512=)
10g.75028703G>CCA377292484DUSP29,KAT6Bc.3879G>C (p.Lys1293Asn)
c.3330G>C (p.Lys1110Asn)
c.3003G>C (p.Lys1001Asn)
c.2814G>C (p.Lys938Asn)
n.577-2109C>G
c.*3622-2109C>G (n.*3622-2109C>G)
c.3717G>C (p.Lys1239Asn)
c.2841G>C (p.Lys947Asn)
c.2190G>C (p.Lys730Asn)
c.1794G>C (p.Lys598Asn)
c.1536G>C (p.Lys512Asn)
10g.75028703G>TCA377292486DUSP29,KAT6Bc.3879G>T (p.Lys1293Asn)
c.3330G>T (p.Lys1110Asn)
c.3003G>T (p.Lys1001Asn)
c.2814G>T (p.Lys938Asn)
n.577-2109C>A
c.*3622-2109C>A (n.*3622-2109C>A)
c.3717G>T (p.Lys1239Asn)
c.2841G>T (p.Lys947Asn)
c.2190G>T (p.Lys730Asn)
c.1794G>T (p.Lys598Asn)
c.1536G>T (p.Lys512Asn)
10g.75028704G>ACA377292488DUSP29,KAT6Bc.3880G>A (p.Glu1294Lys)
c.3331G>A (p.Glu1111Lys)
c.3004G>A (p.Glu1002Lys)
c.2815G>A (p.Glu939Lys)
n.577-2110C>T
c.*3622-2110C>T (n.*3622-2110C>T)
c.3718G>A (p.Glu1240Lys)
c.2842G>A (p.Glu948Lys)
c.2191G>A (p.Glu731Lys)
c.1795G>A (p.Glu599Lys)
c.1537G>A (p.Glu513Lys)
10g.75028704G>CCA377292489DUSP29,KAT6Bc.3880G>C (p.Glu1294Gln)
c.3331G>C (p.Glu1111Gln)
c.3004G>C (p.Glu1002Gln)
c.2815G>C (p.Glu939Gln)
n.577-2110C>G
c.*3622-2110C>G (n.*3622-2110C>G)
c.3718G>C (p.Glu1240Gln)
c.2842G>C (p.Glu948Gln)
c.2191G>C (p.Glu731Gln)
c.1795G>C (p.Glu599Gln)
c.1537G>C (p.Glu513Gln)
10g.75028704G>TCA377292491DUSP29,KAT6Bc.3880G>T (p.Glu1294Ter)
c.3331G>T (p.Glu1111Ter)
c.3004G>T (p.Glu1002Ter)
c.2815G>T (p.Glu939Ter)
n.577-2110C>A
c.*3622-2110C>A (n.*3622-2110C>A)
c.3718G>T (p.Glu1240Ter)
c.2842G>T (p.Glu948Ter)
c.2191G>T (p.Glu731Ter)
c.1795G>T (p.Glu599Ter)
c.1537G>T (p.Glu513Ter)
10g.75028705A>CCA377292494DUSP29,KAT6Bc.3881A>C (p.Glu1294Ala)
c.3332A>C (p.Glu1111Ala)
c.3005A>C (p.Glu1002Ala)
c.2816A>C (p.Glu939Ala)
n.577-2111T>G
c.*3622-2111T>G (n.*3622-2111T>G)
c.3719A>C (p.Glu1240Ala)
c.2843A>C (p.Glu948Ala)
c.2192A>C (p.Glu731Ala)
c.1796A>C (p.Glu599Ala)
c.1538A>C (p.Glu513Ala)
10g.75028705A>GCA377292495DUSP29,KAT6Bc.3881A>G (p.Glu1294Gly)
c.3332A>G (p.Glu1111Gly)
c.3005A>G (p.Glu1002Gly)
c.2816A>G (p.Glu939Gly)
n.577-2111T>C
c.*3622-2111T>C (n.*3622-2111T>C)
c.3719A>G (p.Glu1240Gly)
c.2843A>G (p.Glu948Gly)
c.2192A>G (p.Glu731Gly)
c.1796A>G (p.Glu599Gly)
c.1538A>G (p.Glu513Gly)
10g.75028705A>TCA377292496DUSP29,KAT6Bc.3881A>T (p.Glu1294Val)
c.3332A>T (p.Glu1111Val)
c.3005A>T (p.Glu1002Val)
c.2816A>T (p.Glu939Val)
n.577-2111T>A
c.*3622-2111T>A (n.*3622-2111T>A)
c.3719A>T (p.Glu1240Val)
c.2843A>T (p.Glu948Val)
c.2192A>T (p.Glu731Val)
c.1796A>T (p.Glu599Val)
c.1538A>T (p.Glu513Val)
10g.75028706G>ACA470299577DUSP29,KAT6Bc.3882G>A (p.Glu1294=)
c.3333G>A (p.Glu1111=)
c.3006G>A (p.Glu1002=)
c.2817G>A (p.Glu939=)
n.577-2112C>T
c.*3622-2112C>T (n.*3622-2112C>T)
c.3720G>A (p.Glu1240=)
c.2844G>A (p.Glu948=)
c.2193G>A (p.Glu731=)
c.1797G>A (p.Glu599=)
c.1539G>A (p.Glu513=)
10g.75028706G>CCA377292497DUSP29,KAT6Bc.3882G>C (p.Glu1294Asp)
c.3333G>C (p.Glu1111Asp)
c.3006G>C (p.Glu1002Asp)
c.2817G>C (p.Glu939Asp)
n.577-2112C>G
c.*3622-2112C>G (n.*3622-2112C>G)
c.3720G>C (p.Glu1240Asp)
c.2844G>C (p.Glu948Asp)
c.2193G>C (p.Glu731Asp)
c.1797G>C (p.Glu599Asp)
c.1539G>C (p.Glu513Asp)
10g.75028706G>TCA377292498DUSP29,KAT6Bc.3882G>T (p.Glu1294Asp)
c.3333G>T (p.Glu1111Asp)
c.3006G>T (p.Glu1002Asp)
c.2817G>T (p.Glu939Asp)
n.577-2112C>A
c.*3622-2112C>A (n.*3622-2112C>A)
c.3720G>T (p.Glu1240Asp)
c.2844G>T (p.Glu948Asp)
c.2193G>T (p.Glu731Asp)
c.1797G>T (p.Glu599Asp)
c.1539G>T (p.Glu513Asp)
10g.75028707A>CCA377292499DUSP29,KAT6Bc.3883A>C (p.Thr1295Pro)
c.3334A>C (p.Thr1112Pro)
c.3007A>C (p.Thr1003Pro)
c.2818A>C (p.Thr940Pro)
n.577-2113T>G
c.*3622-2113T>G (n.*3622-2113T>G)
c.3721A>C (p.Thr1241Pro)
c.2845A>C (p.Thr949Pro)
c.2194A>C (p.Thr732Pro)
c.1798A>C (p.Thr600Pro)
c.1540A>C (p.Thr514Pro)
10g.75028707A>GCA377292500DUSP29,KAT6Bc.3883A>G (p.Thr1295Ala)
c.3334A>G (p.Thr1112Ala)
c.3007A>G (p.Thr1003Ala)
c.2818A>G (p.Thr940Ala)
n.577-2113T>C
c.*3622-2113T>C (n.*3622-2113T>C)
c.3721A>G (p.Thr1241Ala)
c.2845A>G (p.Thr949Ala)
c.2194A>G (p.Thr732Ala)
c.1798A>G (p.Thr600Ala)
c.1540A>G (p.Thr514Ala)
10g.75028707A>TCA377292501DUSP29,KAT6Bc.3883A>T (p.Thr1295Ser)
c.3334A>T (p.Thr1112Ser)
c.3007A>T (p.Thr1003Ser)
c.2818A>T (p.Thr940Ser)
n.577-2113T>A
c.*3622-2113T>A (n.*3622-2113T>A)
c.3721A>T (p.Thr1241Ser)
c.2845A>T (p.Thr949Ser)
c.2194A>T (p.Thr732Ser)
c.1798A>T (p.Thr600Ser)
c.1540A>T (p.Thr514Ser)
10g.75028708C>ACA377292502DUSP29,KAT6Bc.3884C>A (p.Thr1295Asn)
c.3335C>A (p.Thr1112Asn)
c.3008C>A (p.Thr1003Asn)
c.2819C>A (p.Thr940Asn)
n.577-2114G>T
c.*3622-2114G>T (n.*3622-2114G>T)
c.3722C>A (p.Thr1241Asn)
c.2846C>A (p.Thr949Asn)
c.2195C>A (p.Thr732Asn)
c.1799C>A (p.Thr600Asn)
c.1541C>A (p.Thr514Asn)
 dbSNP gnomAD v2 gnomAD v4
10g.75028708C=CA1920306432DUSP29,KAT6Bc.3884C= (p.Thr1295=)
c.3335C= (p.Thr1112=)
c.3008C= (p.Thr1003=)
c.2819C= (p.Thr940=)
n.577-2114G=
c.*3622-2114G= (n.*3622-2114G=)
c.3722C= (p.Thr1241=)
c.2846C= (p.Thr949=)
c.2195C= (p.Thr732=)
c.1799C= (p.Thr600=)
c.1541C= (p.Thr514=)
10g.75028708C>GCA377292503DUSP29,KAT6Bc.3884C>G (p.Thr1295Ser)
c.3335C>G (p.Thr1112Ser)
c.3008C>G (p.Thr1003Ser)
c.2819C>G (p.Thr940Ser)
n.577-2114G>C
c.*3622-2114G>C (n.*3622-2114G>C)
c.3722C>G (p.Thr1241Ser)
c.2846C>G (p.Thr949Ser)
c.2195C>G (p.Thr732Ser)
c.1799C>G (p.Thr600Ser)
c.1541C>G (p.Thr514Ser)
10g.75028708C>TCA377292504DUSP29,KAT6Bc.3884C>T (p.Thr1295Ile)
c.3335C>T (p.Thr1112Ile)
c.3008C>T (p.Thr1003Ile)
c.2819C>T (p.Thr940Ile)
n.577-2114G>A
c.*3622-2114G>A (n.*3622-2114G>A)
c.3722C>T (p.Thr1241Ile)
c.2846C>T (p.Thr949Ile)
c.2195C>T (p.Thr732Ile)
c.1799C>T (p.Thr600Ile)
c.1541C>T (p.Thr514Ile)
10g.75028709T>ACA470299578DUSP29,KAT6Bc.3885T>A (p.Thr1295=)
c.3336T>A (p.Thr1112=)
c.3009T>A (p.Thr1003=)
c.2820T>A (p.Thr940=)
n.577-2115A>T
c.*3622-2115A>T (n.*3622-2115A>T)
c.3723T>A (p.Thr1241=)
c.2847T>A (p.Thr949=)
c.2196T>A (p.Thr732=)
c.1800T>A (p.Thr600=)
c.1542T>A (p.Thr514=)
10g.75028709T>CCA470299579DUSP29,KAT6Bc.3885T>C (p.Thr1295=)
c.3336T>C (p.Thr1112=)
c.3009T>C (p.Thr1003=)
c.2820T>C (p.Thr940=)
n.577-2115A>G
c.*3622-2115A>G (n.*3622-2115A>G)
c.3723T>C (p.Thr1241=)
c.2847T>C (p.Thr949=)
c.2196T>C (p.Thr732=)
c.1800T>C (p.Thr600=)
c.1542T>C (p.Thr514=)
10g.75028709T>GCA470299580DUSP29,KAT6Bc.3885T>G (p.Thr1295=)
c.3336T>G (p.Thr1112=)
c.3009T>G (p.Thr1003=)
c.2820T>G (p.Thr940=)
n.577-2115A>C
c.*3622-2115A>C (n.*3622-2115A>C)
c.3723T>G (p.Thr1241=)
c.2847T>G (p.Thr949=)
c.2196T>G (p.Thr732=)
c.1800T>G (p.Thr600=)
c.1542T>G (p.Thr514=)
10g.75028710T>ACA377292505DUSP29,KAT6Bc.3886T>A (p.Ser1296Thr)
c.3337T>A (p.Ser1113Thr)
c.3010T>A (p.Ser1004Thr)
c.2821T>A (p.Ser941Thr)
n.577-2116A>T
c.*3622-2116A>T (n.*3622-2116A>T)
c.3724T>A (p.Ser1242Thr)
c.2848T>A (p.Ser950Thr)
c.2197T>A (p.Ser733Thr)
c.1801T>A (p.Ser601Thr)
c.1543T>A (p.Ser515Thr)
10g.75028710T>CCA377292506DUSP29,KAT6Bc.3886T>C (p.Ser1296Pro)
c.3337T>C (p.Ser1113Pro)
c.3010T>C (p.Ser1004Pro)
c.2821T>C (p.Ser941Pro)
n.577-2116A>G
c.*3622-2116A>G (n.*3622-2116A>G)
c.3724T>C (p.Ser1242Pro)
c.2848T>C (p.Ser950Pro)
c.2197T>C (p.Ser733Pro)
c.1801T>C (p.Ser601Pro)
c.1543T>C (p.Ser515Pro)
10g.75028710T>GCA377292507DUSP29,KAT6Bc.3886T>G (p.Ser1296Ala)
c.3337T>G (p.Ser1113Ala)
c.3010T>G (p.Ser1004Ala)
c.2821T>G (p.Ser941Ala)
n.577-2116A>C
c.*3622-2116A>C (n.*3622-2116A>C)
c.3724T>G (p.Ser1242Ala)
c.2848T>G (p.Ser950Ala)
c.2197T>G (p.Ser733Ala)
c.1801T>G (p.Ser601Ala)
c.1543T>G (p.Ser515Ala)
10g.75028711C>ACA377292508DUSP29,KAT6Bc.3887C>A (p.Ser1296Ter)
c.3338C>A (p.Ser1113Ter)
c.3011C>A (p.Ser1004Ter)
c.2822C>A (p.Ser941Ter)
n.577-2117G>T
c.*3622-2117G>T (n.*3622-2117G>T)
c.3725C>A (p.Ser1242Ter)
c.2849C>A (p.Ser950Ter)
c.2198C>A (p.Ser733Ter)
c.1802C>A (p.Ser601Ter)
c.1544C>A (p.Ser515Ter)
10g.75028711C>GCA377292509DUSP29,KAT6Bc.3887C>G (p.Ser1296Ter)
c.3338C>G (p.Ser1113Ter)
c.3011C>G (p.Ser1004Ter)
c.2822C>G (p.Ser941Ter)
n.577-2117G>C
c.*3622-2117G>C (n.*3622-2117G>C)
c.3725C>G (p.Ser1242Ter)
c.2849C>G (p.Ser950Ter)
c.2198C>G (p.Ser733Ter)
c.1802C>G (p.Ser601Ter)
c.1544C>G (p.Ser515Ter)
10g.75028711C>TCA377292510DUSP29,KAT6Bc.3887C>T (p.Ser1296Leu)
c.3338C>T (p.Ser1113Leu)
c.3011C>T (p.Ser1004Leu)
c.2822C>T (p.Ser941Leu)
n.577-2117G>A
c.*3622-2117G>A (n.*3622-2117G>A)
c.3725C>T (p.Ser1242Leu)
c.2849C>T (p.Ser950Leu)
c.2198C>T (p.Ser733Leu)
c.1802C>T (p.Ser601Leu)
c.1544C>T (p.Ser515Leu)
10g.75028712A>CCA470299581DUSP29,KAT6Bc.3888A>C (p.Ser1296=)
c.3339A>C (p.Ser1113=)
c.3012A>C (p.Ser1004=)
c.2823A>C (p.Ser941=)
n.577-2118T>G
c.*3622-2118T>G (n.*3622-2118T>G)
c.3726A>C (p.Ser1242=)
c.2850A>C (p.Ser950=)
c.2199A>C (p.Ser733=)
c.1803A>C (p.Ser601=)
c.1545A>C (p.Ser515=)
10g.75028712A>GCA470299582DUSP29,KAT6Bc.3888A>G (p.Ser1296=)
c.3339A>G (p.Ser1113=)
c.3012A>G (p.Ser1004=)
c.2823A>G (p.Ser941=)
n.577-2118T>C
c.*3622-2118T>C (n.*3622-2118T>C)
c.3726A>G (p.Ser1242=)
c.2850A>G (p.Ser950=)
c.2199A>G (p.Ser733=)
c.1803A>G (p.Ser601=)
c.1545A>G (p.Ser515=)
 gnomAD v4
10g.75028712A>TCA470299583DUSP29,KAT6Bc.3888A>T (p.Ser1296=)
c.3339A>T (p.Ser1113=)
c.3012A>T (p.Ser1004=)
c.2823A>T (p.Ser941=)
n.577-2118T>A
c.*3622-2118T>A (n.*3622-2118T>A)
c.3726A>T (p.Ser1242=)
c.2850A>T (p.Ser950=)
c.2199A>T (p.Ser733=)
c.1803A>T (p.Ser601=)
c.1545A>T (p.Ser515=)
10g.75028713G>ACA377292511DUSP29,KAT6Bc.3889G>A (p.Glu1297Lys)
c.3340G>A (p.Glu1114Lys)
c.3013G>A (p.Glu1005Lys)
c.2824G>A (p.Glu942Lys)
n.577-2119C>T
c.*3622-2119C>T (n.*3622-2119C>T)
c.3727G>A (p.Glu1243Lys)
c.2851G>A (p.Glu951Lys)
c.2200G>A (p.Glu734Lys)
c.1804G>A (p.Glu602Lys)
c.1546G>A (p.Glu516Lys)
10g.75028713G>CCA377292513DUSP29,KAT6Bc.3889G>C (p.Glu1297Gln)
c.3340G>C (p.Glu1114Gln)
c.3013G>C (p.Glu1005Gln)
c.2824G>C (p.Glu942Gln)
n.577-2119C>G
c.*3622-2119C>G (n.*3622-2119C>G)
c.3727G>C (p.Glu1243Gln)
c.2851G>C (p.Glu951Gln)
c.2200G>C (p.Glu734Gln)
c.1804G>C (p.Glu602Gln)
c.1546G>C (p.Glu516Gln)
10g.75028713G>TCA377292512DUSP29,KAT6Bc.3889G>T (p.Glu1297Ter)
c.3340G>T (p.Glu1114Ter)
c.3013G>T (p.Glu1005Ter)
c.2824G>T (p.Glu942Ter)
n.577-2119C>A
c.*3622-2119C>A (n.*3622-2119C>A)
c.3727G>T (p.Glu1243Ter)
c.2851G>T (p.Glu951Ter)
c.2200G>T (p.Glu734Ter)
c.1804G>T (p.Glu602Ter)
c.1546G>T (p.Glu516Ter)
10g.75028714A>CCA377292514DUSP29,KAT6Bc.3890A>C (p.Glu1297Ala)
c.3341A>C (p.Glu1114Ala)
c.3014A>C (p.Glu1005Ala)
c.2825A>C (p.Glu942Ala)
n.577-2120T>G
c.*3622-2120T>G (n.*3622-2120T>G)
c.3728A>C (p.Glu1243Ala)
c.2852A>C (p.Glu951Ala)
c.2201A>C (p.Glu734Ala)
c.1805A>C (p.Glu602Ala)
c.1547A>C (p.Glu516Ala)
10g.75028714A>GCA377292516DUSP29,KAT6Bc.3890A>G (p.Glu1297Gly)
c.3341A>G (p.Glu1114Gly)
c.3014A>G (p.Glu1005Gly)
c.2825A>G (p.Glu942Gly)
n.577-2120T>C
c.*3622-2120T>C (n.*3622-2120T>C)
c.3728A>G (p.Glu1243Gly)
c.2852A>G (p.Glu951Gly)
c.2201A>G (p.Glu734Gly)
c.1805A>G (p.Glu602Gly)
c.1547A>G (p.Glu516Gly)
10g.75028714A>TCA377292515DUSP29,KAT6Bc.3890A>T (p.Glu1297Val)
c.3341A>T (p.Glu1114Val)
c.3014A>T (p.Glu1005Val)
c.2825A>T (p.Glu942Val)
n.577-2120T>A
c.*3622-2120T>A (n.*3622-2120T>A)
c.3728A>T (p.Glu1243Val)
c.2852A>T (p.Glu951Val)
c.2201A>T (p.Glu734Val)
c.1805A>T (p.Glu602Val)
c.1547A>T (p.Glu516Val)
10g.75028715A>CCA377292517DUSP29,KAT6Bc.3891A>C (p.Glu1297Asp)
c.3342A>C (p.Glu1114Asp)
c.3015A>C (p.Glu1005Asp)
c.2826A>C (p.Glu942Asp)
n.577-2121T>G
c.*3622-2121T>G (n.*3622-2121T>G)
c.3729A>C (p.Glu1243Asp)
c.2853A>C (p.Glu951Asp)
c.2202A>C (p.Glu734Asp)
c.1806A>C (p.Glu602Asp)
c.1548A>C (p.Glu516Asp)
10g.75028715A>GCA470299585DUSP29,KAT6Bc.3891A>G (p.Glu1297=)
c.3342A>G (p.Glu1114=)
c.3015A>G (p.Glu1005=)
c.2826A>G (p.Glu942=)
n.577-2121T>C
c.*3622-2121T>C (n.*3622-2121T>C)
c.3729A>G (p.Glu1243=)
c.2853A>G (p.Glu951=)
c.2202A>G (p.Glu734=)
c.1806A>G (p.Glu602=)
c.1548A>G (p.Glu516=)
10g.75028715A>TCA377292518DUSP29,KAT6Bc.3891A>T (p.Glu1297Asp)
c.3342A>T (p.Glu1114Asp)
c.3015A>T (p.Glu1005Asp)
c.2826A>T (p.Glu942Asp)
n.577-2121T>A
c.*3622-2121T>A (n.*3622-2121T>A)
c.3729A>T (p.Glu1243Asp)
c.2853A>T (p.Glu951Asp)
c.2202A>T (p.Glu734Asp)
c.1806A>T (p.Glu602Asp)
c.1548A>T (p.Glu516Asp)
10g.75028716G>ACA377292519DUSP29,KAT6Bc.3892G>A (p.Gly1298Arg)
c.3343G>A (p.Gly1115Arg)
c.3016G>A (p.Gly1006Arg)
c.2827G>A (p.Gly943Arg)
n.577-2122C>T
c.*3622-2122C>T (n.*3622-2122C>T)
c.3730G>A (p.Gly1244Arg)
c.2854G>A (p.Gly952Arg)
c.2203G>A (p.Gly735Arg)
c.1807G>A (p.Gly603Arg)
c.1549G>A (p.Gly517Arg)
 gnomAD v4
10g.75028716G>CCA377292520DUSP29,KAT6Bc.3892G>C (p.Gly1298Arg)
c.3343G>C (p.Gly1115Arg)
c.3016G>C (p.Gly1006Arg)
c.2827G>C (p.Gly943Arg)
n.577-2122C>G
c.*3622-2122C>G (n.*3622-2122C>G)
c.3730G>C (p.Gly1244Arg)
c.2854G>C (p.Gly952Arg)
c.2203G>C (p.Gly735Arg)
c.1807G>C (p.Gly603Arg)
c.1549G>C (p.Gly517Arg)
10g.75028716G=CA1920306433DUSP29,KAT6Bc.3892G= (p.Gly1298=)
c.3343G= (p.Gly1115=)
c.3016G= (p.Gly1006=)
c.2827G= (p.Gly943=)
n.577-2122C=
c.*3622-2122C= (n.*3622-2122C=)
c.3730G= (p.Gly1244=)
c.2854G= (p.Gly952=)
c.2203G= (p.Gly735=)
c.1807G= (p.Gly603=)
c.1549G= (p.Gly517=)
10g.75028716G>TCA129316DUSP29,KAT6Bc.3892G>T (p.Gly1298Ter)
c.3343G>T (p.Gly1115Ter)
c.3016G>T (p.Gly1006Ter)
c.2827G>T (p.Gly943Ter)
n.577-2122C>A
c.*3622-2122C>A (n.*3622-2122C>A)
c.3730G>T (p.Gly1244Ter)
c.2854G>T (p.Gly952Ter)
c.2203G>T (p.Gly735Ter)
c.1807G>T (p.Gly603Ter)
c.1549G>T (p.Gly517Ter)
 ClinVar dbSNP

Number of alleles fetched