| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.41933210_41933272del | CA581928330 | KAT6A | c.4953_5015del (p.Pro1652_Pro1672del) c.4959_5021del (p.Pro1654_Pro1674del) c.3634_3696del c.5085_5147del (p.Pro1696_Pro1716del) c.5064_5126del (p.Pro1689_Pro1709del) c.4971_5033del (p.Pro1658_Pro1678del) c.3525_3587del (p.Pro1176_Pro1196del) | ClinVar gnomAD v2 gnomAD v4 |
| 8 | g.41933235_41933270del | CA2687076948 | KAT6A | c.4958_4993del (p.Pro1653_Pro1664del) c.4964_4999del (p.Pro1655_Pro1666del) c.3639_3674del c.5090_5125del (p.Pro1697_Pro1708del) c.5069_5104del (p.Pro1690_Pro1701del) c.4976_5011del (p.Pro1659_Pro1670del) c.3530_3565del (p.Pro1177_Pro1188del) | gnomAD v4 |
| 8 | g.41933243_41933272del | CA2687076951 | KAT6A | c.4956_4985del (p.Pro1653_Pro1662del) c.4962_4991del (p.Pro1655_Pro1664del) c.3637_3666del c.5088_5117del (p.Pro1697_Pro1706del) c.5067_5096del (p.Pro1690_Pro1699del) c.4974_5003del (p.Pro1659_Pro1668del) c.3528_3557del (p.Pro1177_Pro1186del) | gnomAD v4 |
| 8 | g.41933252_41933275del | CA4729393 | KAT6A | c.4953_4976del (p.Pro1652_Pro1659del) c.4959_4982del (p.Pro1654_Pro1661del) c.3634_3657del c.5085_5108del (p.Pro1696_Pro1703del) c.5064_5087del (p.Pro1689_Pro1696del) c.4971_4994del (p.Pro1658_Pro1665del) c.3525_3548del (p.Pro1176_Pro1183del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.41933261_41933269del | CA1113181450 | KAT6A | c.4956_4964del (p.Pro1653_Pro1655del) c.4962_4970del (p.Pro1655_Pro1657del) c.3637_3645del c.5088_5096del (p.Pro1697_Pro1699del) c.5067_5075del (p.Pro1690_Pro1692del) c.4974_4982del (p.Pro1659_Pro1661del) c.3528_3536del (p.Pro1177_Pro1179del) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.41933268_41933270del | CA2695209100 | KAT6A | c.4953_4955del (p.Pro1652del) c.4959_4961del (p.Pro1654del) c.3634_3636del c.5085_5087del (p.Pro1696del) c.5064_5066del (p.Pro1689del) c.4971_4973del (p.Pro1658del) c.3525_3527del (p.Pro1176del) | |
| 8 | g.41933268_41933271delinsGGCT | CA1779195858 | KAT6A | c.4949_4952delinsAGCC (p.Gln1650=) c.4955_4958delinsAGCC (p.Gln1652=) c.3630_3633delinsAGCC c.5081_5084delinsAGCC (p.Gln1694=) c.5060_5063delinsAGCC (p.Gln1687=) c.4967_4970delinsAGCC (p.Gln1656=) c.3521_3524delinsAGCC (p.Gln1174=) | |
| 8 | g.41933269G>A | CA371064092 | KAT6A | c.4951C>T (p.Pro1651Ser) c.4957C>T (p.Pro1653Ser) c.3632C>T c.5083C>T (p.Pro1695Ser) c.5062C>T (p.Pro1688Ser) c.4969C>T (p.Pro1657Ser) c.3523C>T (p.Pro1175Ser) | ClinVar gnomAD v4 |
| 8 | g.41933269G>C | CA371064094 | KAT6A | c.4951C>G (p.Pro1651Ala) c.4957C>G (p.Pro1653Ala) c.3632C>G c.5083C>G (p.Pro1695Ala) c.5062C>G (p.Pro1688Ala) c.4969C>G (p.Pro1657Ala) c.3523C>G (p.Pro1175Ala) | |
| 8 | g.41933269G>T | CA371064096 | KAT6A | c.4951C>A (p.Pro1651Thr) c.4957C>A (p.Pro1653Thr) c.3632C>A c.5083C>A (p.Pro1695Thr) c.5062C>A (p.Pro1688Thr) c.4969C>A (p.Pro1657Thr) c.3523C>A (p.Pro1175Thr) | gnomAD v4 |
| 8 | g.41933279_41933281dup | CA4729401 | KAT6A | c.4949_4951dup (p.Gln1650_Pro1651insGln) c.4955_4957dup (p.Gln1652_Pro1653insGln) c.3630_3632dup c.5081_5083dup (p.Gln1694_Pro1695insGln) c.5060_5062dup (p.Gln1687_Pro1688insGln) c.4967_4969dup (p.Gln1656_Pro1657insGln) c.3521_3523dup (p.Gln1174_Pro1175insGln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.41933279_41933281del | CA581928324 | KAT6A | c.4949_4951del (p.Gln1650del) c.4955_4957del (p.Gln1652del) c.3630_3632del c.5081_5083del (p.Gln1694del) c.5060_5062del (p.Gln1687del) c.4967_4969del (p.Gln1656del) c.3521_3523del (p.Gln1174del) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.41933270C>A | CA371064098 | KAT6A | c.4950G>T (p.Gln1650His) c.4956G>T (p.Gln1652His) c.3631G>T c.5082G>T (p.Gln1694His) c.5061G>T (p.Gln1687His) c.4968G>T (p.Gln1656His) c.3522G>T (p.Gln1174His) | gnomAD v4 |
| 8 | g.41933270C>G | CA371064100 | KAT6A | c.4950G>C (p.Gln1650His) c.4956G>C (p.Gln1652His) c.3631G>C c.5082G>C (p.Gln1694His) c.5061G>C (p.Gln1687His) c.4968G>C (p.Gln1656His) c.3522G>C (p.Gln1174His) | dbSNP |
| 8 | g.41933270C>T | CA460783408 | KAT6A | c.4950G>A (p.Gln1650=) c.4956G>A (p.Gln1652=) c.3631G>A c.5082G>A (p.Gln1694=) c.5061G>A (p.Gln1687=) c.4968G>A (p.Gln1656=) c.3522G>A (p.Gln1174=) | gnomAD v4 |
| 8 | g.41933271T>A | CA371064103 | KAT6A | c.4949A>T (p.Gln1650Leu) c.4955A>T (p.Gln1652Leu) c.3630A>T c.5081A>T (p.Gln1694Leu) c.5060A>T (p.Gln1687Leu) c.4967A>T (p.Gln1656Leu) c.3521A>T (p.Gln1174Leu) | |
| 8 | g.41933271T>C | CA371064105 | KAT6A | c.4949A>G (p.Gln1650Arg) c.4955A>G (p.Gln1652Arg) c.3630A>G c.5081A>G (p.Gln1694Arg) c.5060A>G (p.Gln1687Arg) c.4967A>G (p.Gln1656Arg) c.3521A>G (p.Gln1174Arg) | |
| 8 | g.41933271T>G | CA371064106 | KAT6A | c.4949A>C (p.Gln1650Pro) c.4955A>C (p.Gln1652Pro) c.3630A>C c.5081A>C (p.Gln1694Pro) c.5060A>C (p.Gln1687Pro) c.4967A>C (p.Gln1656Pro) c.3521A>C (p.Gln1174Pro) | ClinVar dbSNP |
| 8 | g.41933272G>A | CA371064108 | KAT6A | c.4948C>T (p.Gln1650Ter) c.4954C>T (p.Gln1652Ter) c.3629C>T c.5080C>T (p.Gln1694Ter) c.5059C>T (p.Gln1687Ter) c.4966C>T (p.Gln1656Ter) c.3520C>T (p.Gln1174Ter) | gnomAD v4 |
| 8 | g.41933272G>C | CA371064113 | KAT6A | c.4948C>G (p.Gln1650Glu) c.4954C>G (p.Gln1652Glu) c.3629C>G c.5080C>G (p.Gln1694Glu) c.5059C>G (p.Gln1687Glu) c.4966C>G (p.Gln1656Glu) c.3520C>G (p.Gln1174Glu) | |
| 8 | g.41933272G>T | CA371064111 | KAT6A | c.4948C>A (p.Gln1650Lys) c.4954C>A (p.Gln1652Lys) c.3629C>A c.5080C>A (p.Gln1694Lys) c.5059C>A (p.Gln1687Lys) c.4966C>A (p.Gln1656Lys) c.3520C>A (p.Gln1174Lys) | gnomAD v4 |
| 8 | g.41933273C>A | CA371064116 | KAT6A | c.4947G>T (p.Gln1649His) c.4953G>T (p.Gln1651His) c.3628G>T c.5079G>T (p.Gln1693His) c.5058G>T (p.Gln1686His) c.4965G>T (p.Gln1655His) c.3519G>T (p.Gln1173His) | |
| 8 | g.41933273C= | CA1779195859 | KAT6A | c.4947G= (p.Gln1649=) c.4953G= (p.Gln1651=) c.3628G= c.5079G= (p.Gln1693=) c.5058G= (p.Gln1686=) c.4965G= (p.Gln1655=) c.3519G= (p.Gln1173=) | |
| 8 | g.41933273C>G | CA371064119 | KAT6A | c.4947G>C (p.Gln1649His) c.4953G>C (p.Gln1651His) c.3628G>C c.5079G>C (p.Gln1693His) c.5058G>C (p.Gln1686His) c.4965G>C (p.Gln1655His) c.3519G>C (p.Gln1173His) | |
| 8 | g.41933273C>T | CA175939012 | KAT6A | c.4947G>A (p.Gln1649=) c.4953G>A (p.Gln1651=) c.3628G>A c.5079G>A (p.Gln1693=) c.5058G>A (p.Gln1686=) c.4965G>A (p.Gln1655=) c.3519G>A (p.Gln1173=) | dbSNP gnomAD v4 |
| 8 | g.41933274T>A | CA371064121 | KAT6A | c.4946A>T (p.Gln1649Leu) c.4952A>T (p.Gln1651Leu) c.3627A>T c.5078A>T (p.Gln1693Leu) c.5057A>T (p.Gln1686Leu) c.4964A>T (p.Gln1655Leu) c.3518A>T (p.Gln1173Leu) | |
| 8 | g.41933274T>C | CA371064123 | KAT6A | c.4946A>G (p.Gln1649Arg) c.4952A>G (p.Gln1651Arg) c.3627A>G c.5078A>G (p.Gln1693Arg) c.5057A>G (p.Gln1686Arg) c.4964A>G (p.Gln1655Arg) c.3518A>G (p.Gln1173Arg) | |
| 8 | g.41933274T>G | CA371064125 | KAT6A | c.4946A>C (p.Gln1649Pro) c.4952A>C (p.Gln1651Pro) c.3627A>C c.5078A>C (p.Gln1693Pro) c.5057A>C (p.Gln1686Pro) c.4964A>C (p.Gln1655Pro) c.3518A>C (p.Gln1173Pro) | |
| 8 | g.41933275G>A | CA371064128 | KAT6A | c.4945C>T (p.Gln1649Ter) c.4951C>T (p.Gln1651Ter) c.3626C>T c.5077C>T (p.Gln1693Ter) c.5056C>T (p.Gln1686Ter) c.4963C>T (p.Gln1655Ter) c.3517C>T (p.Gln1173Ter) | ClinVar dbSNP gnomAD v4 |
| 8 | g.41933275G>C | CA371064130 | KAT6A | c.4945C>G (p.Gln1649Glu) c.4951C>G (p.Gln1651Glu) c.3626C>G c.5077C>G (p.Gln1693Glu) c.5056C>G (p.Gln1686Glu) c.4963C>G (p.Gln1655Glu) c.3517C>G (p.Gln1173Glu) | |
| 8 | g.41933275G= | CA1779195860 | KAT6A | c.4945C= (p.Gln1649=) c.4951C= (p.Gln1651=) c.3626C= c.5077C= (p.Gln1693=) c.5056C= (p.Gln1686=) c.4963C= (p.Gln1655=) c.3517C= (p.Gln1173=) | |
| 8 | g.41933275G>T | CA371064132 | KAT6A | c.4945C>A (p.Gln1649Lys) c.4951C>A (p.Gln1651Lys) c.3626C>A c.5077C>A (p.Gln1693Lys) c.5056C>A (p.Gln1686Lys) c.4963C>A (p.Gln1655Lys) c.3517C>A (p.Gln1173Lys) | gnomAD v4 |
| 8 | g.41933276C>A | CA371064136 | KAT6A | c.4944G>T (p.Gln1648His) c.4950G>T (p.Gln1650His) c.3625G>T c.5076G>T (p.Gln1692His) c.5055G>T (p.Gln1685His) c.4962G>T (p.Gln1654His) c.3516G>T (p.Gln1172His) | |
| 8 | g.41933276C= | CA1779195861 | KAT6A | c.4944G= (p.Gln1648=) c.4950G= (p.Gln1650=) c.3625G= c.5076G= (p.Gln1692=) c.5055G= (p.Gln1685=) c.4962G= (p.Gln1654=) c.3516G= (p.Gln1172=) | |
| 8 | g.41933276C>G | CA371064138 | KAT6A | c.4944G>C (p.Gln1648His) c.4950G>C (p.Gln1650His) c.3625G>C c.5076G>C (p.Gln1692His) c.5055G>C (p.Gln1685His) c.4962G>C (p.Gln1654His) c.3516G>C (p.Gln1172His) | |
| 8 | g.41933276C>T | CA4729402 | KAT6A | c.4944G>A (p.Gln1648=) c.4950G>A (p.Gln1650=) c.3625G>A c.5076G>A (p.Gln1692=) c.5055G>A (p.Gln1685=) c.4962G>A (p.Gln1654=) c.3516G>A (p.Gln1172=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.41933277T>A | CA371064142 | KAT6A | c.4943A>T (p.Gln1648Leu) c.4949A>T (p.Gln1650Leu) c.3624A>T c.5075A>T (p.Gln1692Leu) c.5054A>T (p.Gln1685Leu) c.4961A>T (p.Gln1654Leu) c.3515A>T (p.Gln1172Leu) | |
| 8 | g.41933277T>C | CA371064140 | KAT6A | c.4943A>G (p.Gln1648Arg) c.4949A>G (p.Gln1650Arg) c.3624A>G c.5075A>G (p.Gln1692Arg) c.5054A>G (p.Gln1685Arg) c.4961A>G (p.Gln1654Arg) c.3515A>G (p.Gln1172Arg) | gnomAD v4 |
| 8 | g.41933277T>G | CA371064141 | KAT6A | c.4943A>C (p.Gln1648Pro) c.4949A>C (p.Gln1650Pro) c.3624A>C c.5075A>C (p.Gln1692Pro) c.5054A>C (p.Gln1685Pro) c.4961A>C (p.Gln1654Pro) c.3515A>C (p.Gln1172Pro) | |
| 8 | g.41933278G>A | CA371064145 | KAT6A | c.4942C>T (p.Gln1648Ter) c.4948C>T (p.Gln1650Ter) c.3623C>T c.5074C>T (p.Gln1692Ter) c.5053C>T (p.Gln1685Ter) c.4960C>T (p.Gln1654Ter) c.3514C>T (p.Gln1172Ter) | gnomAD v4 |
| 8 | g.41933278G>C | CA371064147 | KAT6A | c.4942C>G (p.Gln1648Glu) c.4948C>G (p.Gln1650Glu) c.3623C>G c.5074C>G (p.Gln1692Glu) c.5053C>G (p.Gln1685Glu) c.4960C>G (p.Gln1654Glu) c.3514C>G (p.Gln1172Glu) | |
| 8 | g.41933278G>T | CA371064148 | KAT6A | c.4942C>A (p.Gln1648Lys) c.4948C>A (p.Gln1650Lys) c.3623C>A c.5074C>A (p.Gln1692Lys) c.5053C>A (p.Gln1685Lys) c.4960C>A (p.Gln1654Lys) c.3514C>A (p.Gln1172Lys) | gnomAD v4 |
| 8 | g.41933279C>A | CA4729403 | KAT6A | c.4941G>T (p.Gln1647His) c.4947G>T (p.Gln1649His) c.3622G>T c.5073G>T (p.Gln1691His) c.5052G>T (p.Gln1684His) c.4959G>T (p.Gln1653His) c.3513G>T (p.Gln1171His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.41933279C= | CA1779195862 | KAT6A | c.4941G= (p.Gln1647=) c.4947G= (p.Gln1649=) c.3622G= c.5073G= (p.Gln1691=) c.5052G= (p.Gln1684=) c.4959G= (p.Gln1653=) c.3513G= (p.Gln1171=) | |
| 8 | g.41933279C>G | CA371064149 | KAT6A | c.4941G>C (p.Gln1647His) c.4947G>C (p.Gln1649His) c.3622G>C c.5073G>C (p.Gln1691His) c.5052G>C (p.Gln1684His) c.4959G>C (p.Gln1653His) c.3513G>C (p.Gln1171His) | gnomAD v4 |
| 8 | g.41933279C>T | CA460783421 | KAT6A | c.4941G>A (p.Gln1647=) c.4947G>A (p.Gln1649=) c.3622G>A c.5073G>A (p.Gln1691=) c.5052G>A (p.Gln1684=) c.4959G>A (p.Gln1653=) c.3513G>A (p.Gln1171=) | |
| 8 | g.41933280T>A | CA371064151 | KAT6A | c.4940A>T (p.Gln1647Leu) c.4946A>T (p.Gln1649Leu) c.3621A>T c.5072A>T (p.Gln1691Leu) c.5051A>T (p.Gln1684Leu) c.4958A>T (p.Gln1653Leu) c.3512A>T (p.Gln1171Leu) | |
| 8 | g.41933280T>C | CA371064154 | KAT6A | c.4940A>G (p.Gln1647Arg) c.4946A>G (p.Gln1649Arg) c.3621A>G c.5072A>G (p.Gln1691Arg) c.5051A>G (p.Gln1684Arg) c.4958A>G (p.Gln1653Arg) c.3512A>G (p.Gln1171Arg) | |
| 8 | g.41933280T>G | CA4729404 | KAT6A | c.4940A>C (p.Gln1647Pro) c.4946A>C (p.Gln1649Pro) c.3621A>C c.5072A>C (p.Gln1691Pro) c.5051A>C (p.Gln1684Pro) c.4958A>C (p.Gln1653Pro) c.3512A>C (p.Gln1171Pro) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.41933280T= | CA1779195863 | KAT6A | c.4940A= (p.Gln1647=) c.4946A= (p.Gln1649=) c.3621A= c.5072A= (p.Gln1691=) c.5051A= (p.Gln1684=) c.4958A= (p.Gln1653=) c.3512A= (p.Gln1171=) | |
| 8 | g.41933281_41933283dup | CA2580078481 | KAT6A | c.4938_4940dup (p.Asn1646_Gln1647insHis) c.4944_4946dup (p.Asn1648_Gln1649insHis) c.3619_3621dup c.5070_5072dup (p.Asn1690_Gln1691insHis) c.5049_5051dup (p.Asn1683_Gln1684insHis) c.4956_4958dup (p.Asn1652_Gln1653insHis) c.3510_3512dup (p.Asn1170_Gln1171insHis) | ClinVar |
| 8 | g.41933281G>A | CA371064158 | KAT6A | c.4939C>T (p.Gln1647Ter) c.4945C>T (p.Gln1649Ter) c.3620C>T c.5071C>T (p.Gln1691Ter) c.5050C>T (p.Gln1684Ter) c.4957C>T (p.Gln1653Ter) c.3511C>T (p.Gln1171Ter) | |
| 8 | g.41933281G>C | CA371064159 | KAT6A | c.4939C>G (p.Gln1647Glu) c.4945C>G (p.Gln1649Glu) c.3620C>G c.5071C>G (p.Gln1691Glu) c.5050C>G (p.Gln1684Glu) c.4957C>G (p.Gln1653Glu) c.3511C>G (p.Gln1171Glu) | |
| 8 | g.41933281G>T | CA371064162 | KAT6A | c.4939C>A (p.Gln1647Lys) c.4945C>A (p.Gln1649Lys) c.3620C>A c.5071C>A (p.Gln1691Lys) c.5050C>A (p.Gln1684Lys) c.4957C>A (p.Gln1653Lys) c.3511C>A (p.Gln1171Lys) | gnomAD v4 |
| 8 | g.41933282G>A | CA4729405 | KAT6A | c.4938C>T (p.Asn1646=) c.4944C>T (p.Asn1648=) c.3619C>T c.5070C>T (p.Asn1690=) c.5049C>T (p.Asn1683=) c.4956C>T (p.Asn1652=) c.3510C>T (p.Asn1170=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.41933282G>C | CA371064170 | KAT6A | c.4938C>G (p.Asn1646Lys) c.4944C>G (p.Asn1648Lys) c.3619C>G c.5070C>G (p.Asn1690Lys) c.5049C>G (p.Asn1683Lys) c.4956C>G (p.Asn1652Lys) c.3510C>G (p.Asn1170Lys) | |
| 8 | g.41933282G= | CA1779195864 | KAT6A | c.4938C= (p.Asn1646=) c.4944C= (p.Asn1648=) c.3619C= c.5070C= (p.Asn1690=) c.5049C= (p.Asn1683=) c.4956C= (p.Asn1652=) c.3510C= (p.Asn1170=) | |
| 8 | g.41933282G>T | CA371064166 | KAT6A | c.4938C>A (p.Asn1646Lys) c.4944C>A (p.Asn1648Lys) c.3619C>A c.5070C>A (p.Asn1690Lys) c.5049C>A (p.Asn1683Lys) c.4956C>A (p.Asn1652Lys) c.3510C>A (p.Asn1170Lys) | gnomAD v4 |
| 8 | g.41933283T>A | CA371064175 | KAT6A | c.4937A>T (p.Asn1646Ile) c.4943A>T (p.Asn1648Ile) c.3618A>T c.5069A>T (p.Asn1690Ile) c.5048A>T (p.Asn1683Ile) c.4955A>T (p.Asn1652Ile) c.3509A>T (p.Asn1170Ile) | |
| 8 | g.41933283T>C | CA371064172 | KAT6A | c.4937A>G (p.Asn1646Ser) c.4943A>G (p.Asn1648Ser) c.3618A>G c.5069A>G (p.Asn1690Ser) c.5048A>G (p.Asn1683Ser) c.4955A>G (p.Asn1652Ser) c.3509A>G (p.Asn1170Ser) | gnomAD v4 |
| 8 | g.41933283T>G | CA175939034 | KAT6A | c.4937A>C (p.Asn1646Thr) c.4943A>C (p.Asn1648Thr) c.3618A>C c.5069A>C (p.Asn1690Thr) c.5048A>C (p.Asn1683Thr) c.4955A>C (p.Asn1652Thr) c.3509A>C (p.Asn1170Thr) | dbSNP |
| 8 | g.41933283T= | CA1779195865 | KAT6A | c.4937A= (p.Asn1646=) c.4943A= (p.Asn1648=) c.3618A= c.5069A= (p.Asn1690=) c.5048A= (p.Asn1683=) c.4955A= (p.Asn1652=) c.3509A= (p.Asn1170=) | |
| 8 | g.41933284T>A | CA371064177 | KAT6A | c.4936A>T (p.Asn1646Tyr) c.4942A>T (p.Asn1648Tyr) c.3617A>T c.5068A>T (p.Asn1690Tyr) c.5047A>T (p.Asn1683Tyr) c.4954A>T (p.Asn1652Tyr) c.3508A>T (p.Asn1170Tyr) | |
| 8 | g.41933284T>C | CA371064179 | KAT6A | c.4936A>G (p.Asn1646Asp) c.4942A>G (p.Asn1648Asp) c.3617A>G c.5068A>G (p.Asn1690Asp) c.5047A>G (p.Asn1683Asp) c.4954A>G (p.Asn1652Asp) c.3508A>G (p.Asn1170Asp) | |
| 8 | g.41933284T>G | CA371064180 | KAT6A | c.4936A>C (p.Asn1646His) c.4942A>C (p.Asn1648His) c.3617A>C c.5068A>C (p.Asn1690His) c.5047A>C (p.Asn1683His) c.4954A>C (p.Asn1652His) c.3508A>C (p.Asn1170His) | |
| 8 | g.41933285A>C | CA371064182 | KAT6A | c.4935T>G (p.Ser1645Arg) c.4941T>G (p.Ser1647Arg) c.3616T>G c.5067T>G (p.Ser1689Arg) c.5046T>G (p.Ser1682Arg) c.4953T>G (p.Ser1651Arg) c.3507T>G (p.Ser1169Arg) | |
| 8 | g.41933285A>G | CA460783428 | KAT6A | c.4935T>C (p.Ser1645=) c.4941T>C (p.Ser1647=) c.3616T>C c.5067T>C (p.Ser1689=) c.5046T>C (p.Ser1682=) c.4953T>C (p.Ser1651=) c.3507T>C (p.Ser1169=) | gnomAD v4 |
| 8 | g.41933285A>T | CA371064183 | KAT6A | c.4935T>A (p.Ser1645Arg) c.4941T>A (p.Ser1647Arg) c.3616T>A c.5067T>A (p.Ser1689Arg) c.5046T>A (p.Ser1682Arg) c.4953T>A (p.Ser1651Arg) c.3507T>A (p.Ser1169Arg) | |
| 8 | g.41933286C>A | CA371064187 | KAT6A | c.4934G>T (p.Ser1645Ile) c.4940G>T (p.Ser1647Ile) c.3615G>T c.5066G>T (p.Ser1689Ile) c.5045G>T (p.Ser1682Ile) c.4952G>T (p.Ser1651Ile) c.3506G>T (p.Ser1169Ile) | |
| 8 | g.41933286C>G | CA371064188 | KAT6A | c.4934G>C (p.Ser1645Thr) c.4940G>C (p.Ser1647Thr) c.3615G>C c.5066G>C (p.Ser1689Thr) c.5045G>C (p.Ser1682Thr) c.4952G>C (p.Ser1651Thr) c.3506G>C (p.Ser1169Thr) | |
| 8 | g.41933286C>T | CA371064190 | KAT6A | c.4934G>A (p.Ser1645Asn) c.4940G>A (p.Ser1647Asn) c.3615G>A c.5066G>A (p.Ser1689Asn) c.5045G>A (p.Ser1682Asn) c.4952G>A (p.Ser1651Asn) c.3506G>A (p.Ser1169Asn) | gnomAD v4 |
| 8 | g.41933287T>A | CA371064193 | KAT6A | c.4933A>T (p.Ser1645Cys) c.4939A>T (p.Ser1647Cys) c.3614A>T c.5065A>T (p.Ser1689Cys) c.5044A>T (p.Ser1682Cys) c.4951A>T (p.Ser1651Cys) c.3505A>T (p.Ser1169Cys) | |
| 8 | g.41933287T>C | CA4729406 | KAT6A | c.4933A>G (p.Ser1645Gly) c.4939A>G (p.Ser1647Gly) c.3614A>G c.5065A>G (p.Ser1689Gly) c.5044A>G (p.Ser1682Gly) c.4951A>G (p.Ser1651Gly) c.3505A>G (p.Ser1169Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.41933287T>G | CA371064196 | KAT6A | c.4933A>C (p.Ser1645Arg) c.4939A>C (p.Ser1647Arg) c.3614A>C c.5065A>C (p.Ser1689Arg) c.5044A>C (p.Ser1682Arg) c.4951A>C (p.Ser1651Arg) c.3505A>C (p.Ser1169Arg) | |
| 8 | g.41933287T= | CA1779195866 | KAT6A | c.4933A= (p.Ser1645=) c.4939A= (p.Ser1647=) c.3614A= c.5065A= (p.Ser1689=) c.5044A= (p.Ser1682=) c.4951A= (p.Ser1651=) c.3505A= (p.Ser1169=) | |
| 8 | g.41933288G>A | CA460783436 | KAT6A | c.4932C>T (p.Pro1644=) c.4938C>T (p.Pro1646=) c.3613C>T c.5064C>T (p.Pro1688=) c.5043C>T (p.Pro1681=) c.4950C>T (p.Pro1650=) c.3504C>T (p.Pro1168=) | ClinVar |
| 8 | g.41933288G>C | CA460783435 | KAT6A | c.4932C>G (p.Pro1644=) c.4938C>G (p.Pro1646=) c.3613C>G c.5064C>G (p.Pro1688=) c.5043C>G (p.Pro1681=) c.4950C>G (p.Pro1650=) c.3504C>G (p.Pro1168=) | |
| 8 | g.41933288G>T | CA460783434 | KAT6A | c.4932C>A (p.Pro1644=) c.4938C>A (p.Pro1646=) c.3613C>A c.5064C>A (p.Pro1688=) c.5043C>A (p.Pro1681=) c.4950C>A (p.Pro1650=) c.3504C>A (p.Pro1168=) | gnomAD v4 |
| 8 | g.41933289G>A | CA371064202 | KAT6A | c.4931C>T (p.Pro1644Leu) c.4937C>T (p.Pro1646Leu) c.3612C>T c.5063C>T (p.Pro1688Leu) c.5042C>T (p.Pro1681Leu) c.4949C>T (p.Pro1650Leu) c.3503C>T (p.Pro1168Leu) | ClinVar gnomAD v4 |
| 8 | g.41933289G>C | CA371064198 | KAT6A | c.4931C>G (p.Pro1644Arg) c.4937C>G (p.Pro1646Arg) c.3612C>G c.5063C>G (p.Pro1688Arg) c.5042C>G (p.Pro1681Arg) c.4949C>G (p.Pro1650Arg) c.3503C>G (p.Pro1168Arg) | |
| 8 | g.41933289G>T | CA371064200 | KAT6A | c.4931C>A (p.Pro1644His) c.4937C>A (p.Pro1646His) c.3612C>A c.5063C>A (p.Pro1688His) c.5042C>A (p.Pro1681His) c.4949C>A (p.Pro1650His) c.3503C>A (p.Pro1168His) | gnomAD v4 |
| 8 | g.41933290G>A | CA371064204 | KAT6A | c.4930C>T (p.Pro1644Ser) c.4936C>T (p.Pro1646Ser) c.3611C>T c.5062C>T (p.Pro1688Ser) c.5041C>T (p.Pro1681Ser) c.4948C>T (p.Pro1650Ser) c.3502C>T (p.Pro1168Ser) | |
| 8 | g.41933290G>C | CA371064206 | KAT6A | c.4930C>G (p.Pro1644Ala) c.4936C>G (p.Pro1646Ala) c.3611C>G c.5062C>G (p.Pro1688Ala) c.5041C>G (p.Pro1681Ala) c.4948C>G (p.Pro1650Ala) c.3502C>G (p.Pro1168Ala) | |
| 8 | g.41933290G>T | CA371064208 | KAT6A | c.4930C>A (p.Pro1644Thr) c.4936C>A (p.Pro1646Thr) c.3611C>A c.5062C>A (p.Pro1688Thr) c.5041C>A (p.Pro1681Thr) c.4948C>A (p.Pro1650Thr) c.3502C>A (p.Pro1168Thr) | gnomAD v4 |
| 8 | g.41933291A>C | CA460783438 | KAT6A | c.4929T>G (p.Pro1643=) c.4935T>G (p.Pro1645=) c.3610T>G c.5061T>G (p.Pro1687=) c.5040T>G (p.Pro1680=) c.4947T>G (p.Pro1649=) c.3501T>G (p.Pro1167=) | |
| 8 | g.41933291A>G | CA460783439 | KAT6A | c.4929T>C (p.Pro1643=) c.4935T>C (p.Pro1645=) c.3610T>C c.5061T>C (p.Pro1687=) c.5040T>C (p.Pro1680=) c.4947T>C (p.Pro1649=) c.3501T>C (p.Pro1167=) | dbSNP gnomAD v4 |
| 8 | g.41933291A>T | CA460783440 | KAT6A | c.4929T>A (p.Pro1643=) c.4935T>A (p.Pro1645=) c.3610T>A c.5061T>A (p.Pro1687=) c.5040T>A (p.Pro1680=) c.4947T>A (p.Pro1649=) c.3501T>A (p.Pro1167=) | gnomAD v4 |
| 8 | g.41933292G>A | CA371064211 | KAT6A | c.4928C>T (p.Pro1643Leu) c.4934C>T (p.Pro1645Leu) c.3609C>T c.5060C>T (p.Pro1687Leu) c.5039C>T (p.Pro1680Leu) c.4946C>T (p.Pro1649Leu) c.3500C>T (p.Pro1167Leu) | |
| 8 | g.41933292G>C | CA371064213 | KAT6A | c.4928C>G (p.Pro1643Arg) c.4934C>G (p.Pro1645Arg) c.3609C>G c.5060C>G (p.Pro1687Arg) c.5039C>G (p.Pro1680Arg) c.4946C>G (p.Pro1649Arg) c.3500C>G (p.Pro1167Arg) | |
| 8 | g.41933292G>T | CA371064215 | KAT6A | c.4928C>A (p.Pro1643His) c.4934C>A (p.Pro1645His) c.3609C>A c.5060C>A (p.Pro1687His) c.5039C>A (p.Pro1680His) c.4946C>A (p.Pro1649His) c.3500C>A (p.Pro1167His) | gnomAD v4 |
| 8 | g.41933293G>A | CA371064217 | KAT6A | c.4927C>T (p.Pro1643Ser) c.4933C>T (p.Pro1645Ser) c.3608C>T c.5059C>T (p.Pro1687Ser) c.5038C>T (p.Pro1680Ser) c.4945C>T (p.Pro1649Ser) c.3499C>T (p.Pro1167Ser) | |
| 8 | g.41933293G>C | CA371064219 | KAT6A | c.4927C>G (p.Pro1643Ala) c.4933C>G (p.Pro1645Ala) c.3608C>G c.5059C>G (p.Pro1687Ala) c.5038C>G (p.Pro1680Ala) c.4945C>G (p.Pro1649Ala) c.3499C>G (p.Pro1167Ala) | |
| 8 | g.41933293G>T | CA371064221 | KAT6A | c.4927C>A (p.Pro1643Thr) c.4933C>A (p.Pro1645Thr) c.3608C>A c.5059C>A (p.Pro1687Thr) c.5038C>A (p.Pro1680Thr) c.4945C>A (p.Pro1649Thr) c.3499C>A (p.Pro1167Thr) | gnomAD v4 |
| 8 | g.41933294C>A | CA371064223 | KAT6A | c.4926G>T (p.Arg1642Ser) c.4932G>T (p.Arg1644Ser) c.3607G>T c.5058G>T (p.Arg1686Ser) c.5037G>T (p.Arg1679Ser) c.4944G>T (p.Arg1648Ser) c.3498G>T (p.Arg1166Ser) | gnomAD v4 |
| 8 | g.41933294C>G | CA371064225 | KAT6A | c.4926G>C (p.Arg1642Ser) c.4932G>C (p.Arg1644Ser) c.3607G>C c.5058G>C (p.Arg1686Ser) c.5037G>C (p.Arg1679Ser) c.4944G>C (p.Arg1648Ser) c.3498G>C (p.Arg1166Ser) | |
| 8 | g.41933294C>T | CA460783443 | KAT6A | c.4926G>A (p.Arg1642=) c.4932G>A (p.Arg1644=) c.3607G>A c.5058G>A (p.Arg1686=) c.5037G>A (p.Arg1679=) c.4944G>A (p.Arg1648=) c.3498G>A (p.Arg1166=) | |
| 8 | g.41933295C>A | CA371064231 | KAT6A | c.4925G>T (p.Arg1642Met) c.4931G>T (p.Arg1644Met) c.3606G>T c.5057G>T (p.Arg1686Met) c.5036G>T (p.Arg1679Met) c.4943G>T (p.Arg1648Met) c.3497G>T (p.Arg1166Met) | gnomAD v4 |
| 8 | g.41933295C>G | CA371064229 | KAT6A | c.4925G>C (p.Arg1642Thr) c.4931G>C (p.Arg1644Thr) c.3606G>C c.5057G>C (p.Arg1686Thr) c.5036G>C (p.Arg1679Thr) c.4943G>C (p.Arg1648Thr) c.3497G>C (p.Arg1166Thr) | |
| 8 | g.41933295C>T | CA371064227 | KAT6A | c.4925G>A (p.Arg1642Lys) c.4931G>A (p.Arg1644Lys) c.3606G>A c.5057G>A (p.Arg1686Lys) c.5036G>A (p.Arg1679Lys) c.4943G>A (p.Arg1648Lys) c.3497G>A (p.Arg1166Lys) | |
| 8 | g.41933296T>A | CA371064233 | KAT6A | c.4924A>T (p.Arg1642Trp) c.4930A>T (p.Arg1644Trp) c.3605A>T c.5056A>T (p.Arg1686Trp) c.5035A>T (p.Arg1679Trp) c.4942A>T (p.Arg1648Trp) c.3496A>T (p.Arg1166Trp) | |
| 8 | g.41933296T>C | CA371064235 | KAT6A | c.4924A>G (p.Arg1642Gly) c.4930A>G (p.Arg1644Gly) c.3605A>G c.5056A>G (p.Arg1686Gly) c.5035A>G (p.Arg1679Gly) c.4942A>G (p.Arg1648Gly) c.3496A>G (p.Arg1166Gly) | gnomAD v4 |
| 8 | g.41933296T>G | CA460783449 | KAT6A | c.4924A>C (p.Arg1642=) c.4930A>C (p.Arg1644=) c.3605A>C c.5056A>C (p.Arg1686=) c.5035A>C (p.Arg1679=) c.4942A>C (p.Arg1648=) c.3496A>C (p.Arg1166=) | |
| 8 | g.41933297C>A | CA371064237 | KAT6A | c.4923G>T (p.Glu1641Asp) c.4929G>T (p.Glu1643Asp) c.3604G>T c.5055G>T (p.Glu1685Asp) c.5034G>T (p.Glu1678Asp) c.4941G>T (p.Glu1647Asp) c.3495G>T (p.Glu1165Asp) | |
| 8 | g.41933297C>G | CA371064239 | KAT6A | c.4923G>C (p.Glu1641Asp) c.4929G>C (p.Glu1643Asp) c.3604G>C c.5055G>C (p.Glu1685Asp) c.5034G>C (p.Glu1678Asp) c.4941G>C (p.Glu1647Asp) c.3495G>C (p.Glu1165Asp) | gnomAD v4 |
| 8 | g.41933297C>T | CA460783450 | KAT6A | c.4923G>A (p.Glu1641=) c.4929G>A (p.Glu1643=) c.3604G>A c.5055G>A (p.Glu1685=) c.5034G>A (p.Glu1678=) c.4941G>A (p.Glu1647=) c.3495G>A (p.Glu1165=) | |
| 8 | g.41933298T>A | CA371064241 | KAT6A | c.4922A>T (p.Glu1641Val) c.4928A>T (p.Glu1643Val) c.3603A>T c.5054A>T (p.Glu1685Val) c.5033A>T (p.Glu1678Val) c.4940A>T (p.Glu1647Val) c.3494A>T (p.Glu1165Val) | |
| 8 | g.41933298T>C | CA371064244 | KAT6A | c.4922A>G (p.Glu1641Gly) c.4928A>G (p.Glu1643Gly) c.3603A>G c.5054A>G (p.Glu1685Gly) c.5033A>G (p.Glu1678Gly) c.4940A>G (p.Glu1647Gly) c.3494A>G (p.Glu1165Gly) | gnomAD v4 |
| 8 | g.41933298T>G | CA371064246 | KAT6A | c.4922A>C (p.Glu1641Ala) c.4928A>C (p.Glu1643Ala) c.3603A>C c.5054A>C (p.Glu1685Ala) c.5033A>C (p.Glu1678Ala) c.4940A>C (p.Glu1647Ala) c.3494A>C (p.Glu1165Ala) | |
| 8 | g.41933298_41933301delinsTCCA | CA1779195867 | KAT6A | c.4919_4922delinsTGGA (p.Val1640=) c.4925_4928delinsTGGA (p.Val1642=) c.3600_3603delinsTGGA c.5051_5054delinsTGGA (p.Val1684=) c.5030_5033delinsTGGA (p.Val1677=) c.4937_4940delinsTGGA (p.Val1646=) c.3491_3494delinsTGGA (p.Val1164=) | |
| 8 | g.41933299C>A | CA371064249 | KAT6A | c.4921G>T (p.Glu1641Ter) c.4927G>T (p.Glu1643Ter) c.3602G>T c.5053G>T (p.Glu1685Ter) c.5032G>T (p.Glu1678Ter) c.4939G>T (p.Glu1647Ter) c.3493G>T (p.Glu1165Ter) | |
| 8 | g.41933299C>G | CA371064251 | KAT6A | c.4921G>C (p.Glu1641Gln) c.4927G>C (p.Glu1643Gln) c.3602G>C c.5053G>C (p.Glu1685Gln) c.5032G>C (p.Glu1678Gln) c.4939G>C (p.Glu1647Gln) c.3493G>C (p.Glu1165Gln) | |
| 8 | g.41933299C>T | CA371064253 | KAT6A | c.4921G>A (p.Glu1641Lys) c.4927G>A (p.Glu1643Lys) c.3602G>A c.5053G>A (p.Glu1685Lys) c.5032G>A (p.Glu1678Lys) c.4939G>A (p.Glu1647Lys) c.3493G>A (p.Glu1165Lys) | gnomAD v4 |
| 8 | g.41933303_41933305del | CA581928325 | KAT6A | c.4919_4921del (p.Val1640del) c.4925_4927del (p.Val1642del) c.3600_3602del c.5051_5053del (p.Val1684del) c.5030_5032del (p.Val1677del) c.4937_4939del (p.Val1646del) c.3491_3493del (p.Val1164del) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.41933300C>A | CA460783453 | KAT6A | c.4920G>T (p.Val1640=) c.4926G>T (p.Val1642=) c.3601G>T c.5052G>T (p.Val1684=) c.5031G>T (p.Val1677=) c.4938G>T (p.Val1646=) c.3492G>T (p.Val1164=) | gnomAD v4 |
| 8 | g.41933300C>G | CA460783457 | KAT6A | c.4920G>C (p.Val1640=) c.4926G>C (p.Val1642=) c.3601G>C c.5052G>C (p.Val1684=) c.5031G>C (p.Val1677=) c.4938G>C (p.Val1646=) c.3492G>C (p.Val1164=) | |
| 8 | g.41933300C>T | CA460783455 | KAT6A | c.4920G>A (p.Val1640=) c.4926G>A (p.Val1642=) c.3601G>A c.5052G>A (p.Val1684=) c.5031G>A (p.Val1677=) c.4938G>A (p.Val1646=) c.3492G>A (p.Val1164=) | gnomAD v4 |
| 8 | g.41933301A>C | CA371064257 | KAT6A | c.4919T>G (p.Val1640Gly) c.4925T>G (p.Val1642Gly) c.3600T>G c.5051T>G (p.Val1684Gly) c.5030T>G (p.Val1677Gly) c.4937T>G (p.Val1646Gly) c.3491T>G (p.Val1164Gly) | gnomAD v4 |
| 8 | g.41933301A>G | CA371064258 | KAT6A | c.4919T>C (p.Val1640Ala) c.4925T>C (p.Val1642Ala) c.3600T>C c.5051T>C (p.Val1684Ala) c.5030T>C (p.Val1677Ala) c.4937T>C (p.Val1646Ala) c.3491T>C (p.Val1164Ala) | |
| 8 | g.41933301A>T | CA371064260 | KAT6A | c.4919T>A (p.Val1640Glu) c.4925T>A (p.Val1642Glu) c.3600T>A c.5051T>A (p.Val1684Glu) c.5030T>A (p.Val1677Glu) c.4937T>A (p.Val1646Glu) c.3491T>A (p.Val1164Glu) | |
| 8 | g.41933302C>A | CA371064267 | KAT6A | c.4918G>T (p.Val1640Leu) c.4924G>T (p.Val1642Leu) c.3599G>T c.5050G>T (p.Val1684Leu) c.5029G>T (p.Val1677Leu) c.4936G>T (p.Val1646Leu) c.3490G>T (p.Val1164Leu) | gnomAD v4 |
| 8 | g.41933302C>G | CA371064263 | KAT6A | c.4918G>C (p.Val1640Leu) c.4924G>C (p.Val1642Leu) c.3599G>C c.5050G>C (p.Val1684Leu) c.5029G>C (p.Val1677Leu) c.4936G>C (p.Val1646Leu) c.3490G>C (p.Val1164Leu) | |
| 8 | g.41933302C>T | CA371064265 | KAT6A | c.4918G>A (p.Val1640Met) c.4924G>A (p.Val1642Met) c.3599G>A c.5050G>A (p.Val1684Met) c.5029G>A (p.Val1677Met) c.4936G>A (p.Val1646Met) c.3490G>A (p.Val1164Met) | |
| 8 | g.41933303C>A | CA460783459 | KAT6A | c.4917G>T (p.Val1639=) c.4923G>T (p.Val1641=) c.3598G>T c.5049G>T (p.Val1683=) c.5028G>T (p.Val1676=) c.4935G>T (p.Val1645=) c.3489G>T (p.Val1163=) | gnomAD v4 |
| 8 | g.41933303C= | CA1779195868 | KAT6A | c.4917G= (p.Val1639=) c.4923G= (p.Val1641=) c.3598G= c.5049G= (p.Val1683=) c.5028G= (p.Val1676=) c.4935G= (p.Val1645=) c.3489G= (p.Val1163=) | |
| 8 | g.41933303C>G | CA4729407 | KAT6A | c.4917G>C (p.Val1639=) c.4923G>C (p.Val1641=) c.3598G>C c.5049G>C (p.Val1683=) c.5028G>C (p.Val1676=) c.4935G>C (p.Val1645=) c.3489G>C (p.Val1163=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.41933303C>T | CA460783460 | KAT6A | c.4917G>A (p.Val1639=) c.4923G>A (p.Val1641=) c.3598G>A c.5049G>A (p.Val1683=) c.5028G>A (p.Val1676=) c.4935G>A (p.Val1645=) c.3489G>A (p.Val1163=) | gnomAD v4 |
| 8 | g.41933305_41933306insCAAACACAC | CA2779856523 | KAT6A | c.4917_4918insTGTTTGGTG (p.Val1639_Val1640insCysLeuVal) c.4923_4924insTGTTTGGTG (p.Val1641_Val1642insCysLeuVal) c.3598_3599insTGTTTGGTG c.5049_5050insTGTTTGGTG (p.Val1683_Val1684insCysLeuVal) c.5028_5029insTGTTTGGTG (p.Val1676_Val1677insCysLeuVal) c.4935_4936insTGTTTGGTG (p.Val1645_Val1646insCysLeuVal) c.3489_3490insTGTTTGGTG (p.Val1163_Val1164insCysLeuVal) | |
| 8 | g.41933304A>C | CA371064271 | KAT6A | c.4916T>G (p.Val1639Gly) c.4922T>G (p.Val1641Gly) c.3597T>G c.5048T>G (p.Val1683Gly) c.5027T>G (p.Val1676Gly) c.4934T>G (p.Val1645Gly) c.3488T>G (p.Val1163Gly) | |
| 8 | g.41933304A>G | CA371064273 | KAT6A | c.4916T>C (p.Val1639Ala) c.4922T>C (p.Val1641Ala) c.3597T>C c.5048T>C (p.Val1683Ala) c.5027T>C (p.Val1676Ala) c.4934T>C (p.Val1645Ala) c.3488T>C (p.Val1163Ala) | gnomAD v4 COSMIC |
| 8 | g.41933304A>T | CA371064275 | KAT6A | c.4916T>A (p.Val1639Glu) c.4922T>A (p.Val1641Glu) c.3597T>A c.5048T>A (p.Val1683Glu) c.5027T>A (p.Val1676Glu) c.4934T>A (p.Val1645Glu) c.3488T>A (p.Val1163Glu) | |
| 8 | g.41933305C>A | CA371064277 | KAT6A | c.4915G>T (p.Val1639Leu) c.4921G>T (p.Val1641Leu) c.3596G>T c.5047G>T (p.Val1683Leu) c.5026G>T (p.Val1676Leu) c.4933G>T (p.Val1645Leu) c.3487G>T (p.Val1163Leu) | gnomAD v4 |
| 8 | g.41933305C= | CA1779195869 | KAT6A | c.4915G= (p.Val1639=) c.4921G= (p.Val1641=) c.3596G= c.5047G= (p.Val1683=) c.5026G= (p.Val1676=) c.4933G= (p.Val1645=) c.3487G= (p.Val1163=) | |
| 8 | g.41933305C>G | CA371064280 | KAT6A | c.4915G>C (p.Val1639Leu) c.4921G>C (p.Val1641Leu) c.3596G>C c.5047G>C (p.Val1683Leu) c.5026G>C (p.Val1676Leu) c.4933G>C (p.Val1645Leu) c.3487G>C (p.Val1163Leu) | gnomAD v4 |
| 8 | g.41933305C>T | CA4729408 | KAT6A | c.4915G>A (p.Val1639Met) c.4921G>A (p.Val1641Met) c.3596G>A c.5047G>A (p.Val1683Met) c.5026G>A (p.Val1676Met) c.4933G>A (p.Val1645Met) c.3487G>A (p.Val1163Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.41933306G>A | CA4729409 | KAT6A | c.4914C>T (p.Cys1638=) c.4920C>T (p.Cys1640=) c.3595C>T c.5046C>T (p.Cys1682=) c.5025C>T (p.Cys1675=) c.4932C>T (p.Cys1644=) c.3486C>T (p.Cys1162=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.41933306G>C | CA371064282 | KAT6A | c.4914C>G (p.Cys1638Trp) c.4920C>G (p.Cys1640Trp) c.3595C>G c.5046C>G (p.Cys1682Trp) c.5025C>G (p.Cys1675Trp) c.4932C>G (p.Cys1644Trp) c.3486C>G (p.Cys1162Trp) | |
| 8 | g.41933306G= | CA1779195870 | KAT6A | c.4914C= (p.Cys1638=) c.4920C= (p.Cys1640=) c.3595C= c.5046C= (p.Cys1682=) c.5025C= (p.Cys1675=) c.4932C= (p.Cys1644=) c.3486C= (p.Cys1162=) | |
| 8 | g.41933306G>T | CA371064283 | KAT6A | c.4914C>A (p.Cys1638Ter) c.4920C>A (p.Cys1640Ter) c.3595C>A c.5046C>A (p.Cys1682Ter) c.5025C>A (p.Cys1675Ter) c.4932C>A (p.Cys1644Ter) c.3486C>A (p.Cys1162Ter) | |
| 8 | g.41933307C>A | CA371064284 | KAT6A | c.4913G>T (p.Cys1638Phe) c.4919G>T (p.Cys1640Phe) c.3594G>T c.5045G>T (p.Cys1682Phe) c.5024G>T (p.Cys1675Phe) c.4931G>T (p.Cys1644Phe) c.3485G>T (p.Cys1162Phe) | gnomAD v4 |
| 8 | g.41933307C= | CA1779195871 | KAT6A | c.4913G= (p.Cys1638=) c.4919G= (p.Cys1640=) c.3594G= c.5045G= (p.Cys1682=) c.5024G= (p.Cys1675=) c.4931G= (p.Cys1644=) c.3485G= (p.Cys1162=) | |
| 8 | g.41933307C>G | CA371064285 | KAT6A | c.4913G>C (p.Cys1638Ser) c.4919G>C (p.Cys1640Ser) c.3594G>C c.5045G>C (p.Cys1682Ser) c.5024G>C (p.Cys1675Ser) c.4931G>C (p.Cys1644Ser) c.3485G>C (p.Cys1162Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.41933307C>T | CA371064286 | KAT6A | c.4913G>A (p.Cys1638Tyr) c.4919G>A (p.Cys1640Tyr) c.3594G>A c.5045G>A (p.Cys1682Tyr) c.5024G>A (p.Cys1675Tyr) c.4931G>A (p.Cys1644Tyr) c.3485G>A (p.Cys1162Tyr) | gnomAD v4 |
| 8 | g.41933308A>C | CA371064288 | KAT6A | c.4912T>G (p.Cys1638Gly) c.4918T>G (p.Cys1640Gly) c.3593T>G c.5044T>G (p.Cys1682Gly) c.5023T>G (p.Cys1675Gly) c.4930T>G (p.Cys1644Gly) c.3484T>G (p.Cys1162Gly) | |
| 8 | g.41933308A>G | CA371064289 | KAT6A | c.4912T>C (p.Cys1638Arg) c.4918T>C (p.Cys1640Arg) c.3593T>C c.5044T>C (p.Cys1682Arg) c.5023T>C (p.Cys1675Arg) c.4930T>C (p.Cys1644Arg) c.3484T>C (p.Cys1162Arg) | |
| 8 | g.41933308A>T | CA371064287 | KAT6A | c.4912T>A (p.Cys1638Ser) c.4918T>A (p.Cys1640Ser) c.3593T>A c.5044T>A (p.Cys1682Ser) c.5023T>A (p.Cys1675Ser) c.4930T>A (p.Cys1644Ser) c.3484T>A (p.Cys1162Ser) | |
| 8 | g.41933309G>A | CA460783468 | KAT6A | c.4911C>T (p.Ser1637=) c.4917C>T (p.Ser1639=) c.3592C>T c.5043C>T (p.Ser1681=) c.5022C>T (p.Ser1674=) c.4929C>T (p.Ser1643=) c.3483C>T (p.Ser1161=) | gnomAD v4 |
| 8 | g.41933309G>C | CA371064291 | KAT6A | c.4911C>G (p.Ser1637Arg) c.4917C>G (p.Ser1639Arg) c.3592C>G c.5043C>G (p.Ser1681Arg) c.5022C>G (p.Ser1674Arg) c.4929C>G (p.Ser1643Arg) c.3483C>G (p.Ser1161Arg) | dbSNP |
| 8 | g.41933309G>T | CA371064290 | KAT6A | c.4911C>A (p.Ser1637Arg) c.4917C>A (p.Ser1639Arg) c.3592C>A c.5043C>A (p.Ser1681Arg) c.5022C>A (p.Ser1674Arg) c.4929C>A (p.Ser1643Arg) c.3483C>A (p.Ser1161Arg) | gnomAD v4 |
| 8 | g.41933310C>A | CA175939060 | KAT6A | c.4910G>T (p.Ser1637Ile) c.4916G>T (p.Ser1639Ile) c.3591G>T c.5042G>T (p.Ser1681Ile) c.5021G>T (p.Ser1674Ile) c.4928G>T (p.Ser1643Ile) c.3482G>T (p.Ser1161Ile) | dbSNP gnomAD v4 |
| 8 | g.41933310C= | CA1779195872 | KAT6A | c.4910G= (p.Ser1637=) c.4916G= (p.Ser1639=) c.3591G= c.5042G= (p.Ser1681=) c.5021G= (p.Ser1674=) c.4928G= (p.Ser1643=) c.3482G= (p.Ser1161=) | |
| 8 | g.41933310C>G | CA371064292 | KAT6A | c.4910G>C (p.Ser1637Thr) c.4916G>C (p.Ser1639Thr) c.3591G>C c.5042G>C (p.Ser1681Thr) c.5021G>C (p.Ser1674Thr) c.4928G>C (p.Ser1643Thr) c.3482G>C (p.Ser1161Thr) | |
| 8 | g.41933310C>T | CA371064293 | KAT6A | c.4910G>A (p.Ser1637Asn) c.4916G>A (p.Ser1639Asn) c.3591G>A c.5042G>A (p.Ser1681Asn) c.5021G>A (p.Ser1674Asn) c.4928G>A (p.Ser1643Asn) c.3482G>A (p.Ser1161Asn) | |
| 8 | g.41933311T>A | CA4729410 | KAT6A | c.4909A>T (p.Ser1637Cys) c.4915A>T (p.Ser1639Cys) c.3590A>T c.5041A>T (p.Ser1681Cys) c.5020A>T (p.Ser1674Cys) c.4927A>T (p.Ser1643Cys) c.3481A>T (p.Ser1161Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.41933311T>C | CA371064294 | KAT6A | c.4909A>G (p.Ser1637Gly) c.4915A>G (p.Ser1639Gly) c.3590A>G c.5041A>G (p.Ser1681Gly) c.5020A>G (p.Ser1674Gly) c.4927A>G (p.Ser1643Gly) c.3481A>G (p.Ser1161Gly) | |
| 8 | g.41933311T>G | CA371064295 | KAT6A | c.4909A>C (p.Ser1637Arg) c.4915A>C (p.Ser1639Arg) c.3590A>C c.5041A>C (p.Ser1681Arg) c.5020A>C (p.Ser1674Arg) c.4927A>C (p.Ser1643Arg) c.3481A>C (p.Ser1161Arg) | |
| 8 | g.41933311T= | CA1779195873 | KAT6A | c.4909A= (p.Ser1637=) c.4915A= (p.Ser1639=) c.3590A= c.5041A= (p.Ser1681=) c.5020A= (p.Ser1674=) c.4927A= (p.Ser1643=) c.3481A= (p.Ser1161=) | |
| 8 | g.41933312C>A | CA175939068 | KAT6A | c.4908G>T (p.Gln1636His) c.4914G>T (p.Gln1638His) c.3589G>T c.5040G>T (p.Gln1680His) c.5019G>T (p.Gln1673His) c.4926G>T (p.Gln1642His) c.3480G>T (p.Gln1160His) | dbSNP gnomAD v4 |
| 8 | g.41933312C= | CA1779195874 | KAT6A | c.4908G= (p.Gln1636=) c.4914G= (p.Gln1638=) c.3589G= c.5040G= (p.Gln1680=) c.5019G= (p.Gln1673=) c.4926G= (p.Gln1642=) c.3480G= (p.Gln1160=) | |
| 8 | g.41933312C>G | CA371064296 | KAT6A | c.4908G>C (p.Gln1636His) c.4914G>C (p.Gln1638His) c.3589G>C c.5040G>C (p.Gln1680His) c.5019G>C (p.Gln1673His) c.4926G>C (p.Gln1642His) c.3480G>C (p.Gln1160His) | |
| 8 | g.41933312C>T | CA460783474 | KAT6A | c.4908G>A (p.Gln1636=) c.4914G>A (p.Gln1638=) c.3589G>A c.5040G>A (p.Gln1680=) c.5019G>A (p.Gln1673=) c.4926G>A (p.Gln1642=) c.3480G>A (p.Gln1160=) | |
| 8 | g.41933313T>A | CA371064297 | KAT6A | c.4907A>T (p.Gln1636Leu) c.4913A>T (p.Gln1638Leu) c.3588A>T c.5039A>T (p.Gln1680Leu) c.5018A>T (p.Gln1673Leu) c.4925A>T (p.Gln1642Leu) c.3479A>T (p.Gln1160Leu) | |
| 8 | g.41933313T>C | CA371064298 | KAT6A | c.4907A>G (p.Gln1636Arg) c.4913A>G (p.Gln1638Arg) c.3588A>G c.5039A>G (p.Gln1680Arg) c.5018A>G (p.Gln1673Arg) c.4925A>G (p.Gln1642Arg) c.3479A>G (p.Gln1160Arg) | dbSNP |
| 8 | g.41933313T>G | CA371064299 | KAT6A | c.4907A>C (p.Gln1636Pro) c.4913A>C (p.Gln1638Pro) c.3588A>C c.5039A>C (p.Gln1680Pro) c.5018A>C (p.Gln1673Pro) c.4925A>C (p.Gln1642Pro) c.3479A>C (p.Gln1160Pro) | |
| 8 | g.41933313T= | CA1779195875 | KAT6A | c.4907A= (p.Gln1636=) c.4913A= (p.Gln1638=) c.3588A= c.5039A= (p.Gln1680=) c.5018A= (p.Gln1673=) c.4925A= (p.Gln1642=) c.3479A= (p.Gln1160=) | |
| 8 | g.41933314G>A | CA371064300 | KAT6A | c.4906C>T (p.Gln1636Ter) c.4912C>T (p.Gln1638Ter) c.3587C>T c.5038C>T (p.Gln1680Ter) c.5017C>T (p.Gln1673Ter) c.4924C>T (p.Gln1642Ter) c.3478C>T (p.Gln1160Ter) | |
| 8 | g.41933314G>C | CA4729411 | KAT6A | c.4906C>G (p.Gln1636Glu) c.4912C>G (p.Gln1638Glu) c.3587C>G c.5038C>G (p.Gln1680Glu) c.5017C>G (p.Gln1673Glu) c.4924C>G (p.Gln1642Glu) c.3478C>G (p.Gln1160Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.41933314G= | CA1779195876 | KAT6A | c.4906C= (p.Gln1636=) c.4912C= (p.Gln1638=) c.3587C= c.5038C= (p.Gln1680=) c.5017C= (p.Gln1673=) c.4924C= (p.Gln1642=) c.3478C= (p.Gln1160=) | |
| 8 | g.41933314G>T | CA371064301 | KAT6A | c.4906C>A (p.Gln1636Lys) c.4912C>A (p.Gln1638Lys) c.3587C>A c.5038C>A (p.Gln1680Lys) c.5017C>A (p.Gln1673Lys) c.4924C>A (p.Gln1642Lys) c.3478C>A (p.Gln1160Lys) | gnomAD v4 |
| 8 | g.41933315A>C | CA460783479 | KAT6A | c.4905T>G (p.Pro1635=) c.4911T>G (p.Pro1637=) c.3586T>G c.5037T>G (p.Pro1679=) c.5016T>G (p.Pro1672=) c.4923T>G (p.Pro1641=) c.3477T>G (p.Pro1159=) | |
| 8 | g.41933315A>G | CA460783481 | KAT6A | c.4905T>C (p.Pro1635=) c.4911T>C (p.Pro1637=) c.3586T>C c.5037T>C (p.Pro1679=) c.5016T>C (p.Pro1672=) c.4923T>C (p.Pro1641=) c.3477T>C (p.Pro1159=) | gnomAD v4 |
| 8 | g.41933315A>T | CA460783482 | KAT6A | c.4905T>A (p.Pro1635=) c.4911T>A (p.Pro1637=) c.3586T>A c.5037T>A (p.Pro1679=) c.5016T>A (p.Pro1672=) c.4923T>A (p.Pro1641=) c.3477T>A (p.Pro1159=) | |
| 8 | g.41933316G>A | CA371064304 | KAT6A | c.4904C>T (p.Pro1635Leu) c.4910C>T (p.Pro1637Leu) c.3585C>T c.5036C>T (p.Pro1679Leu) c.5015C>T (p.Pro1672Leu) c.4922C>T (p.Pro1641Leu) c.3476C>T (p.Pro1159Leu) | ClinVar dbSNP gnomAD v4 |
| 8 | g.41933316G>C | CA371064302 | KAT6A | c.4904C>G (p.Pro1635Arg) c.4910C>G (p.Pro1637Arg) c.3585C>G c.5036C>G (p.Pro1679Arg) c.5015C>G (p.Pro1672Arg) c.4922C>G (p.Pro1641Arg) c.3476C>G (p.Pro1159Arg) | |
| 8 | g.41933316G= | CA1779195877 | KAT6A | c.4904C= (p.Pro1635=) c.4910C= (p.Pro1637=) c.3585C= c.5036C= (p.Pro1679=) c.5015C= (p.Pro1672=) c.4922C= (p.Pro1641=) c.3476C= (p.Pro1159=) | |
| 8 | g.41933316G>T | CA371064303 | KAT6A | c.4904C>A (p.Pro1635His) c.4910C>A (p.Pro1637His) c.3585C>A c.5036C>A (p.Pro1679His) c.5015C>A (p.Pro1672His) c.4922C>A (p.Pro1641His) c.3476C>A (p.Pro1159His) | |
| 8 | g.41933317G>A | CA371064305 | KAT6A | c.4903C>T (p.Pro1635Ser) c.4909C>T (p.Pro1637Ser) c.3584C>T c.5035C>T (p.Pro1679Ser) c.5014C>T (p.Pro1672Ser) c.4921C>T (p.Pro1641Ser) c.3475C>T (p.Pro1159Ser) | dbSNP |
| 8 | g.41933317G>C | CA371064306 | KAT6A | c.4903C>G (p.Pro1635Ala) c.4909C>G (p.Pro1637Ala) c.3584C>G c.5035C>G (p.Pro1679Ala) c.5014C>G (p.Pro1672Ala) c.4921C>G (p.Pro1641Ala) c.3475C>G (p.Pro1159Ala) | |
| 8 | g.41933317G= | CA1779195878 | KAT6A | c.4903C= (p.Pro1635=) c.4909C= (p.Pro1637=) c.3584C= c.5035C= (p.Pro1679=) c.5014C= (p.Pro1672=) c.4921C= (p.Pro1641=) c.3475C= (p.Pro1159=) | |
| 8 | g.41933317G>T | CA371064307 | KAT6A | c.4903C>A (p.Pro1635Thr) c.4909C>A (p.Pro1637Thr) c.3584C>A c.5035C>A (p.Pro1679Thr) c.5014C>A (p.Pro1672Thr) c.4921C>A (p.Pro1641Thr) c.3475C>A (p.Pro1159Thr) | |
| 8 | g.41933318T>A | CA460783491 | KAT6A | c.4902A>T (p.Ser1634=) c.4908A>T (p.Ser1636=) c.3583A>T c.5034A>T (p.Ser1678=) c.5013A>T (p.Ser1671=) c.4920A>T (p.Ser1640=) c.3474A>T (p.Ser1158=) | |
| 8 | g.41933318T>C | CA460783493 | KAT6A | c.4902A>G (p.Ser1634=) c.4908A>G (p.Ser1636=) c.3583A>G c.5034A>G (p.Ser1678=) c.5013A>G (p.Ser1671=) c.4920A>G (p.Ser1640=) c.3474A>G (p.Ser1158=) | |
| 8 | g.41933318T>G | CA460783494 | KAT6A | c.4902A>C (p.Ser1634=) c.4908A>C (p.Ser1636=) c.3583A>C c.5034A>C (p.Ser1678=) c.5013A>C (p.Ser1671=) c.4920A>C (p.Ser1640=) c.3474A>C (p.Ser1158=) | |
| 8 | g.41933319G>A | CA371064308 | KAT6A | c.4901C>T (p.Ser1634Leu) c.4907C>T (p.Ser1636Leu) c.3582C>T c.5033C>T (p.Ser1678Leu) c.5012C>T (p.Ser1671Leu) c.4919C>T (p.Ser1640Leu) c.3473C>T (p.Ser1158Leu) | |
| 8 | g.41933319G>C | CA371064309 | KAT6A | c.4901C>G (p.Ser1634Ter) c.4907C>G (p.Ser1636Ter) c.3582C>G c.5033C>G (p.Ser1678Ter) c.5012C>G (p.Ser1671Ter) c.4919C>G (p.Ser1640Ter) c.3473C>G (p.Ser1158Ter) | |
| 8 | g.41933319G>T | CA371064310 | KAT6A | c.4901C>A (p.Ser1634Ter) c.4907C>A (p.Ser1636Ter) c.3582C>A c.5033C>A (p.Ser1678Ter) c.5012C>A (p.Ser1671Ter) c.4919C>A (p.Ser1640Ter) c.3473C>A (p.Ser1158Ter) | gnomAD v4 |
| 8 | g.41933320A>C | CA371064311 | KAT6A | c.4900T>G (p.Ser1634Ala) c.4906T>G (p.Ser1636Ala) c.3581T>G c.5032T>G (p.Ser1678Ala) c.5011T>G (p.Ser1671Ala) c.4918T>G (p.Ser1640Ala) c.3472T>G (p.Ser1158Ala) | |
| 8 | g.41933320A>G | CA371064312 | KAT6A | c.4900T>C (p.Ser1634Pro) c.4906T>C (p.Ser1636Pro) c.3581T>C c.5032T>C (p.Ser1678Pro) c.5011T>C (p.Ser1671Pro) c.4918T>C (p.Ser1640Pro) c.3472T>C (p.Ser1158Pro) | gnomAD v4 |
| 8 | g.41933320A>T | CA371064313 | KAT6A | c.4900T>A (p.Ser1634Thr) c.4906T>A (p.Ser1636Thr) c.3581T>A c.5032T>A (p.Ser1678Thr) c.5011T>A (p.Ser1671Thr) c.4918T>A (p.Ser1640Thr) c.3472T>A (p.Ser1158Thr) | |
| 8 | g.41933321C>A | CA371064314 | KAT6A | c.4899G>T (p.Lys1633Asn) c.4905G>T (p.Lys1635Asn) c.3580G>T c.5031G>T (p.Lys1677Asn) c.5010G>T (p.Lys1670Asn) c.4917G>T (p.Lys1639Asn) c.3471G>T (p.Lys1157Asn) | gnomAD v4 |
| 8 | g.41933321C>G | CA371064315 | KAT6A | c.4899G>C (p.Lys1633Asn) c.4905G>C (p.Lys1635Asn) c.3580G>C c.5031G>C (p.Lys1677Asn) c.5010G>C (p.Lys1670Asn) c.4917G>C (p.Lys1639Asn) c.3471G>C (p.Lys1157Asn) | |
| 8 | g.41933321C>T | CA460783498 | KAT6A | c.4899G>A (p.Lys1633=) c.4905G>A (p.Lys1635=) c.3580G>A c.5031G>A (p.Lys1677=) c.5010G>A (p.Lys1670=) c.4917G>A (p.Lys1639=) c.3471G>A (p.Lys1157=) | |
| 8 | g.41933322T>A | CA371064318 | KAT6A | c.4898A>T (p.Lys1633Met) c.4904A>T (p.Lys1635Met) c.3579A>T c.5030A>T (p.Lys1677Met) c.5009A>T (p.Lys1670Met) c.4916A>T (p.Lys1639Met) c.3470A>T (p.Lys1157Met) | gnomAD v4 |
| 8 | g.41933322T>C | CA371064317 | KAT6A | c.4898A>G (p.Lys1633Arg) c.4904A>G (p.Lys1635Arg) c.3579A>G c.5030A>G (p.Lys1677Arg) c.5009A>G (p.Lys1670Arg) c.4916A>G (p.Lys1639Arg) c.3470A>G (p.Lys1157Arg) | ClinVar dbSNP gnomAD v4 |
| 8 | g.41933322T>G | CA371064316 | KAT6A | c.4898A>C (p.Lys1633Thr) c.4904A>C (p.Lys1635Thr) c.3579A>C c.5030A>C (p.Lys1677Thr) c.5009A>C (p.Lys1670Thr) c.4916A>C (p.Lys1639Thr) c.3470A>C (p.Lys1157Thr) | |
| 8 | g.41933322T= | CA1779195879 | KAT6A | c.4898A= (p.Lys1633=) c.4904A= (p.Lys1635=) c.3579A= c.5030A= (p.Lys1677=) c.5009A= (p.Lys1670=) c.4916A= (p.Lys1639=) c.3470A= (p.Lys1157=) | |
| 8 | g.41933323T>A | CA371064319 | KAT6A | c.4897A>T (p.Lys1633Ter) c.4903A>T (p.Lys1635Ter) c.3578A>T c.5029A>T (p.Lys1677Ter) c.5008A>T (p.Lys1670Ter) c.4915A>T (p.Lys1639Ter) c.3469A>T (p.Lys1157Ter) | gnomAD v4 |
| 8 | g.41933323T>C | CA371064320 | KAT6A | c.4897A>G (p.Lys1633Glu) c.4903A>G (p.Lys1635Glu) c.3578A>G c.5029A>G (p.Lys1677Glu) c.5008A>G (p.Lys1670Glu) c.4915A>G (p.Lys1639Glu) c.3469A>G (p.Lys1157Glu) | |
| 8 | g.41933323T>G | CA371064321 | KAT6A | c.4897A>C (p.Lys1633Gln) c.4903A>C (p.Lys1635Gln) c.3578A>C c.5029A>C (p.Lys1677Gln) c.5008A>C (p.Lys1670Gln) c.4915A>C (p.Lys1639Gln) c.3469A>C (p.Lys1157Gln) | gnomAD v4 |
| 8 | g.41933324G>A | CA460783500 | KAT6A | c.4896C>T (p.Ile1632=) c.4902C>T (p.Ile1634=) c.3577C>T c.5028C>T (p.Ile1676=) c.5007C>T (p.Ile1669=) c.4914C>T (p.Ile1638=) c.3468C>T (p.Ile1156=) | gnomAD v4 |
| 8 | g.41933324G>C | CA371064322 | KAT6A | c.4896C>G (p.Ile1632Met) c.4902C>G (p.Ile1634Met) c.3577C>G c.5028C>G (p.Ile1676Met) c.5007C>G (p.Ile1669Met) c.4914C>G (p.Ile1638Met) c.3468C>G (p.Ile1156Met) | |
| 8 | g.41933324G>T | CA460783501 | KAT6A | c.4896C>A (p.Ile1632=) c.4902C>A (p.Ile1634=) c.3577C>A c.5028C>A (p.Ile1676=) c.5007C>A (p.Ile1669=) c.4914C>A (p.Ile1638=) c.3468C>A (p.Ile1156=) | gnomAD v4 |
| 8 | g.41933325A= | CA1779195880 | KAT6A | c.4895T= (p.Ile1632=) c.4901T= (p.Ile1634=) c.3576T= c.5027T= (p.Ile1676=) c.5006T= (p.Ile1669=) c.4913T= (p.Ile1638=) c.3467T= (p.Ile1156=) | |
| 8 | g.41933325A>C | CA371064323 | KAT6A | c.4895T>G (p.Ile1632Ser) c.4901T>G (p.Ile1634Ser) c.3576T>G c.5027T>G (p.Ile1676Ser) c.5006T>G (p.Ile1669Ser) c.4913T>G (p.Ile1638Ser) c.3467T>G (p.Ile1156Ser) | |
| 8 | g.41933325A>G | CA371064324 | KAT6A | c.4895T>C (p.Ile1632Thr) c.4901T>C (p.Ile1634Thr) c.3576T>C c.5027T>C (p.Ile1676Thr) c.5006T>C (p.Ile1669Thr) c.4913T>C (p.Ile1638Thr) c.3467T>C (p.Ile1156Thr) | |
| 8 | g.41933325A>T | CA371064325 | KAT6A | c.4895T>A (p.Ile1632Asn) c.4901T>A (p.Ile1634Asn) c.3576T>A c.5027T>A (p.Ile1676Asn) c.5006T>A (p.Ile1669Asn) c.4913T>A (p.Ile1638Asn) c.3467T>A (p.Ile1156Asn) | dbSNP |
| 8 | g.41933326T>A | CA371064326 | KAT6A | c.4894A>T (p.Ile1632Phe) c.4900A>T (p.Ile1634Phe) c.3575A>T c.5026A>T (p.Ile1676Phe) c.5005A>T (p.Ile1669Phe) c.4912A>T (p.Ile1638Phe) c.3466A>T (p.Ile1156Phe) | |
| 8 | g.41933326T>C | CA371064327 | KAT6A | c.4894A>G (p.Ile1632Val) c.4900A>G (p.Ile1634Val) c.3575A>G c.5026A>G (p.Ile1676Val) c.5005A>G (p.Ile1669Val) c.4912A>G (p.Ile1638Val) c.3466A>G (p.Ile1156Val) | gnomAD v4 |
| 8 | g.41933326T>G | CA371064328 | KAT6A | c.4894A>C (p.Ile1632Leu) c.4900A>C (p.Ile1634Leu) c.3575A>C c.5026A>C (p.Ile1676Leu) c.5005A>C (p.Ile1669Leu) c.4912A>C (p.Ile1638Leu) c.3466A>C (p.Ile1156Leu) | |
| 8 | g.41933327G>A | CA460783504 | KAT6A | c.4893C>T (p.Ser1631=) c.4899C>T (p.Ser1633=) c.3574C>T c.5025C>T (p.Ser1675=) c.5004C>T (p.Ser1668=) c.4911C>T (p.Ser1637=) c.3465C>T (p.Ser1155=) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.41933327G>C | CA371064331 | KAT6A | c.4893C>G (p.Ser1631Arg) c.4899C>G (p.Ser1633Arg) c.3574C>G c.5025C>G (p.Ser1675Arg) c.5004C>G (p.Ser1668Arg) c.4911C>G (p.Ser1637Arg) c.3465C>G (p.Ser1155Arg) | |
| 8 | g.41933327G= | CA1779195881 | KAT6A | c.4893C= (p.Ser1631=) c.4899C= (p.Ser1633=) c.3574C= c.5025C= (p.Ser1675=) c.5004C= (p.Ser1668=) c.4911C= (p.Ser1637=) c.3465C= (p.Ser1155=) | |
| 8 | g.41933327G>T | CA371064333 | KAT6A | c.4893C>A (p.Ser1631Arg) c.4899C>A (p.Ser1633Arg) c.3574C>A c.5025C>A (p.Ser1675Arg) c.5004C>A (p.Ser1668Arg) c.4911C>A (p.Ser1637Arg) c.3465C>A (p.Ser1155Arg) | |
| 8 | g.41933328C>A | CA371064338 | KAT6A | c.4892G>T (p.Ser1631Ile) c.4898G>T (p.Ser1633Ile) c.3573G>T c.5024G>T (p.Ser1675Ile) c.5003G>T (p.Ser1668Ile) c.4910G>T (p.Ser1637Ile) c.3464G>T (p.Ser1155Ile) | gnomAD v4 |
| 8 | g.41933328C>G | CA371064339 | KAT6A | c.4892G>C (p.Ser1631Thr) c.4898G>C (p.Ser1633Thr) c.3573G>C c.5024G>C (p.Ser1675Thr) c.5003G>C (p.Ser1668Thr) c.4910G>C (p.Ser1637Thr) c.3464G>C (p.Ser1155Thr) | |
| 8 | g.41933328C>T | CA371064336 | KAT6A | c.4892G>A (p.Ser1631Asn) c.4898G>A (p.Ser1633Asn) c.3573G>A c.5024G>A (p.Ser1675Asn) c.5003G>A (p.Ser1668Asn) c.4910G>A (p.Ser1637Asn) c.3464G>A (p.Ser1155Asn) | COSMIC |
| 8 | g.41933329T>A | CA371064343 | KAT6A | c.4891A>T (p.Ser1631Cys) c.4897A>T (p.Ser1633Cys) c.3572A>T c.5023A>T (p.Ser1675Cys) c.5002A>T (p.Ser1668Cys) c.4909A>T (p.Ser1637Cys) c.3463A>T (p.Ser1155Cys) | |
| 8 | g.41933329T>C | CA371064345 | KAT6A | c.4891A>G (p.Ser1631Gly) c.4897A>G (p.Ser1633Gly) c.3572A>G c.5023A>G (p.Ser1675Gly) c.5002A>G (p.Ser1668Gly) c.4909A>G (p.Ser1637Gly) c.3463A>G (p.Ser1155Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.41933329T>G | CA371064347 | KAT6A | c.4891A>C (p.Ser1631Arg) c.4897A>C (p.Ser1633Arg) c.3572A>C c.5023A>C (p.Ser1675Arg) c.5002A>C (p.Ser1668Arg) c.4909A>C (p.Ser1637Arg) c.3463A>C (p.Ser1155Arg) | dbSNP |
| 8 | g.41933329T= | CA1779195882 | KAT6A | c.4891A= (p.Ser1631=) c.4897A= (p.Ser1633=) c.3572A= c.5023A= (p.Ser1675=) c.5002A= (p.Ser1668=) c.4909A= (p.Ser1637=) c.3463A= (p.Ser1155=) | |
| 8 | g.41933330G>A | CA460783507 | KAT6A | c.4890C>T (p.Cys1630=) c.4896C>T (p.Cys1632=) c.3571C>T c.5022C>T (p.Cys1674=) c.5001C>T (p.Cys1667=) c.4908C>T (p.Cys1636=) c.3462C>T (p.Cys1154=) | gnomAD v4 |
| 8 | g.41933330G>C | CA175939075 | KAT6A | c.4890C>G (p.Cys1630Trp) c.4896C>G (p.Cys1632Trp) c.3571C>G c.5022C>G (p.Cys1674Trp) c.5001C>G (p.Cys1667Trp) c.4908C>G (p.Cys1636Trp) c.3462C>G (p.Cys1154Trp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.41933330G= | CA1779195883 | KAT6A | c.4890C= (p.Cys1630=) c.4896C= (p.Cys1632=) c.3571C= c.5022C= (p.Cys1674=) c.5001C= (p.Cys1667=) c.4908C= (p.Cys1636=) c.3462C= (p.Cys1154=) | |
| 8 | g.41933330G>T | CA371064350 | KAT6A | c.4890C>A (p.Cys1630Ter) c.4896C>A (p.Cys1632Ter) c.3571C>A c.5022C>A (p.Cys1674Ter) c.5001C>A (p.Cys1667Ter) c.4908C>A (p.Cys1636Ter) c.3462C>A (p.Cys1154Ter) | |
| 8 | g.41933331C>A | CA371064358 | KAT6A | c.4889G>T (p.Cys1630Phe) c.4895G>T (p.Cys1632Phe) c.3570G>T c.5021G>T (p.Cys1674Phe) c.5000G>T (p.Cys1667Phe) c.4907G>T (p.Cys1636Phe) c.3461G>T (p.Cys1154Phe) | |
| 8 | g.41933331C= | CA1779195884 | KAT6A | c.4889G= (p.Cys1630=) c.4895G= (p.Cys1632=) c.3570G= c.5021G= (p.Cys1674=) c.5000G= (p.Cys1667=) c.4907G= (p.Cys1636=) c.3461G= (p.Cys1154=) | |
| 8 | g.41933331C>G | CA371064354 | KAT6A | c.4889G>C (p.Cys1630Ser) c.4895G>C (p.Cys1632Ser) c.3570G>C c.5021G>C (p.Cys1674Ser) c.5000G>C (p.Cys1667Ser) c.4907G>C (p.Cys1636Ser) c.3461G>C (p.Cys1154Ser) | |
| 8 | g.41933331C>T | CA371064357 | KAT6A | c.4889G>A (p.Cys1630Tyr) c.4895G>A (p.Cys1632Tyr) c.3570G>A c.5021G>A (p.Cys1674Tyr) c.5000G>A (p.Cys1667Tyr) c.4907G>A (p.Cys1636Tyr) c.3461G>A (p.Cys1154Tyr) | dbSNP |
| 8 | g.41933332A>C | CA371064361 | KAT6A | c.4888T>G (p.Cys1630Gly) c.4894T>G (p.Cys1632Gly) c.3569T>G c.5020T>G (p.Cys1674Gly) c.4999T>G (p.Cys1667Gly) c.4906T>G (p.Cys1636Gly) c.3460T>G (p.Cys1154Gly) | |
| 8 | g.41933332A>G | CA371064363 | KAT6A | c.4888T>C (p.Cys1630Arg) c.4894T>C (p.Cys1632Arg) c.3569T>C c.5020T>C (p.Cys1674Arg) c.4999T>C (p.Cys1667Arg) c.4906T>C (p.Cys1636Arg) c.3460T>C (p.Cys1154Arg) | gnomAD v4 |
| 8 | g.41933332A>T | CA371064364 | KAT6A | c.4888T>A (p.Cys1630Ser) c.4894T>A (p.Cys1632Ser) c.3569T>A c.5020T>A (p.Cys1674Ser) c.4999T>A (p.Cys1667Ser) c.4906T>A (p.Cys1636Ser) c.3460T>A (p.Cys1154Ser) | |
| 8 | g.41933333G>A | CA175939076 | KAT6A | c.4887C>T (p.Asn1629=) c.4893C>T (p.Asn1631=) c.3568C>T c.5019C>T (p.Asn1673=) c.4998C>T (p.Asn1666=) c.4905C>T (p.Asn1635=) c.3459C>T (p.Asn1153=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.41933333G>C | CA371064367 | KAT6A | c.4887C>G (p.Asn1629Lys) c.4893C>G (p.Asn1631Lys) c.3568C>G c.5019C>G (p.Asn1673Lys) c.4998C>G (p.Asn1666Lys) c.4905C>G (p.Asn1635Lys) c.3459C>G (p.Asn1153Lys) | |
| 8 | g.41933333G= | CA1779195885 | KAT6A | c.4887C= (p.Asn1629=) c.4893C= (p.Asn1631=) c.3568C= c.5019C= (p.Asn1673=) c.4998C= (p.Asn1666=) c.4905C= (p.Asn1635=) c.3459C= (p.Asn1153=) | |
| 8 | g.41933333G>T | CA371064369 | KAT6A | c.4887C>A (p.Asn1629Lys) c.4893C>A (p.Asn1631Lys) c.3568C>A c.5019C>A (p.Asn1673Lys) c.4998C>A (p.Asn1666Lys) c.4905C>A (p.Asn1635Lys) c.3459C>A (p.Asn1153Lys) | gnomAD v4 |
| 8 | g.41933334T>A | CA371064375 | KAT6A | c.4886A>T (p.Asn1629Ile) c.4892A>T (p.Asn1631Ile) c.3567A>T c.5018A>T (p.Asn1673Ile) c.4997A>T (p.Asn1666Ile) c.4904A>T (p.Asn1635Ile) c.3458A>T (p.Asn1153Ile) | |
| 8 | g.41933334T>C | CA371064373 | KAT6A | c.4886A>G (p.Asn1629Ser) c.4892A>G (p.Asn1631Ser) c.3567A>G c.5018A>G (p.Asn1673Ser) c.4997A>G (p.Asn1666Ser) c.4904A>G (p.Asn1635Ser) c.3458A>G (p.Asn1153Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.41933334T>G | CA371064371 | KAT6A | c.4886A>C (p.Asn1629Thr) c.4892A>C (p.Asn1631Thr) c.3567A>C c.5018A>C (p.Asn1673Thr) c.4997A>C (p.Asn1666Thr) c.4904A>C (p.Asn1635Thr) c.3458A>C (p.Asn1153Thr) | dbSNP |
| 8 | g.41933334T= | CA1779195886 | KAT6A | c.4886A= (p.Asn1629=) c.4892A= (p.Asn1631=) c.3567A= c.5018A= (p.Asn1673=) c.4997A= (p.Asn1666=) c.4904A= (p.Asn1635=) c.3458A= (p.Asn1153=) | |
| 8 | g.41933335T>A | CA371064378 | KAT6A | c.4885A>T (p.Asn1629Tyr) c.4891A>T (p.Asn1631Tyr) c.3566A>T c.5017A>T (p.Asn1673Tyr) c.4996A>T (p.Asn1666Tyr) c.4903A>T (p.Asn1635Tyr) c.3457A>T (p.Asn1153Tyr) | |
| 8 | g.41933335T>C | CA371064382 | KAT6A | c.4885A>G (p.Asn1629Asp) c.4891A>G (p.Asn1631Asp) c.3566A>G c.5017A>G (p.Asn1673Asp) c.4996A>G (p.Asn1666Asp) c.4903A>G (p.Asn1635Asp) c.3457A>G (p.Asn1153Asp) | |
| 8 | g.41933335T>G | CA371064380 | KAT6A | c.4885A>C (p.Asn1629His) c.4891A>C (p.Asn1631His) c.3566A>C c.5017A>C (p.Asn1673His) c.4996A>C (p.Asn1666His) c.4903A>C (p.Asn1635His) c.3457A>C (p.Asn1153His) | gnomAD v4 |
| 8 | g.41933336G>A | CA460783509 | KAT6A | c.4884C>T (p.Ala1628=) c.4890C>T (p.Ala1630=) c.3565C>T c.5016C>T (p.Ala1672=) c.4995C>T (p.Ala1665=) c.4902C>T (p.Ala1634=) c.3456C>T (p.Ala1152=) | |
| 8 | g.41933336G>C | CA4729412 | KAT6A | c.4884C>G (p.Ala1628=) c.4890C>G (p.Ala1630=) c.3565C>G c.5016C>G (p.Ala1672=) c.4995C>G (p.Ala1665=) c.4902C>G (p.Ala1634=) c.3456C>G (p.Ala1152=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.41933336G= | CA1779195887 | KAT6A | c.4884C= (p.Ala1628=) c.4890C= (p.Ala1630=) c.3565C= c.5016C= (p.Ala1672=) c.4995C= (p.Ala1665=) c.4902C= (p.Ala1634=) c.3456C= (p.Ala1152=) | |
| 8 | g.41933336G>T | CA460783511 | KAT6A | c.4884C>A (p.Ala1628=) c.4890C>A (p.Ala1630=) c.3565C>A c.5016C>A (p.Ala1672=) c.4995C>A (p.Ala1665=) c.4902C>A (p.Ala1634=) c.3456C>A (p.Ala1152=) | gnomAD v4 |
| 8 | g.41933337G>A | CA4729413 | KAT6A | c.4883C>T (p.Ala1628Val) c.4889C>T (p.Ala1630Val) c.3564C>T c.5015C>T (p.Ala1672Val) c.4994C>T (p.Ala1665Val) c.4901C>T (p.Ala1634Val) c.3455C>T (p.Ala1152Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.41933337G>C | CA371064387 | KAT6A | c.4883C>G (p.Ala1628Gly) c.4889C>G (p.Ala1630Gly) c.3564C>G c.5015C>G (p.Ala1672Gly) c.4994C>G (p.Ala1665Gly) c.4901C>G (p.Ala1634Gly) c.3455C>G (p.Ala1152Gly) | gnomAD v4 |
| 8 | g.41933337G= | CA1779195888 | KAT6A | c.4883C= (p.Ala1628=) c.4889C= (p.Ala1630=) c.3564C= c.5015C= (p.Ala1672=) c.4994C= (p.Ala1665=) c.4901C= (p.Ala1634=) c.3455C= (p.Ala1152=) | |
| 8 | g.41933337G>T | CA371064389 | KAT6A | c.4883C>A (p.Ala1628Asp) c.4889C>A (p.Ala1630Asp) c.3564C>A c.5015C>A (p.Ala1672Asp) c.4994C>A (p.Ala1665Asp) c.4901C>A (p.Ala1634Asp) c.3455C>A (p.Ala1152Asp) | |
| 8 | g.41933338C>A | CA371064391 | KAT6A | c.4882G>T (p.Ala1628Ser) c.4888G>T (p.Ala1630Ser) c.3563G>T c.5014G>T (p.Ala1672Ser) c.4993G>T (p.Ala1665Ser) c.4900G>T (p.Ala1634Ser) c.3454G>T (p.Ala1152Ser) | |
| 8 | g.41933338C= | CA1779195889 | KAT6A | c.4882G= (p.Ala1628=) c.4888G= (p.Ala1630=) c.3563G= c.5014G= (p.Ala1672=) c.4993G= (p.Ala1665=) c.4900G= (p.Ala1634=) c.3454G= (p.Ala1152=) | |
| 8 | g.41933338C>G | CA371064393 | KAT6A | c.4882G>C (p.Ala1628Pro) c.4888G>C (p.Ala1630Pro) c.3563G>C c.5014G>C (p.Ala1672Pro) c.4993G>C (p.Ala1665Pro) c.4900G>C (p.Ala1634Pro) c.3454G>C (p.Ala1152Pro) | |
| 8 | g.41933338C>T | CA371064395 | KAT6A | c.4882G>A (p.Ala1628Thr) c.4888G>A (p.Ala1630Thr) c.3563G>A c.5014G>A (p.Ala1672Thr) c.4993G>A (p.Ala1665Thr) c.4900G>A (p.Ala1634Thr) c.3454G>A (p.Ala1152Thr) | ClinVar dbSNP gnomAD v4 |
| 8 | g.41933339A>C | CA460783517 | KAT6A | c.4881T>G (p.Ala1627=) c.4887T>G (p.Ala1629=) c.3562T>G c.5013T>G (p.Ala1671=) c.4992T>G (p.Ala1664=) c.4899T>G (p.Ala1633=) c.3453T>G (p.Ala1151=) | |
| 8 | g.41933339A>G | CA460783518 | KAT6A | c.4881T>C (p.Ala1627=) c.4887T>C (p.Ala1629=) c.3562T>C c.5013T>C (p.Ala1671=) c.4992T>C (p.Ala1664=) c.4899T>C (p.Ala1633=) c.3453T>C (p.Ala1151=) | gnomAD v4 |
| 8 | g.41933339A>T | CA460783519 | KAT6A | c.4881T>A (p.Ala1627=) c.4887T>A (p.Ala1629=) c.3562T>A c.5013T>A (p.Ala1671=) c.4992T>A (p.Ala1664=) c.4899T>A (p.Ala1633=) c.3453T>A (p.Ala1151=) | |
| 8 | g.41933340G>A | CA371064398 | KAT6A | c.4880C>T (p.Ala1627Val) c.4886C>T (p.Ala1629Val) c.3561C>T c.5012C>T (p.Ala1671Val) c.4991C>T (p.Ala1664Val) c.4898C>T (p.Ala1633Val) c.3452C>T (p.Ala1151Val) | gnomAD v4 |
| 8 | g.41933340G>C | CA371064400 | KAT6A | c.4880C>G (p.Ala1627Gly) c.4886C>G (p.Ala1629Gly) c.3561C>G c.5012C>G (p.Ala1671Gly) c.4991C>G (p.Ala1664Gly) c.4898C>G (p.Ala1633Gly) c.3452C>G (p.Ala1151Gly) | ClinVar gnomAD v4 |
| 8 | g.41933340G>T | CA371064402 | KAT6A | c.4880C>A (p.Ala1627Asp) c.4886C>A (p.Ala1629Asp) c.3561C>A c.5012C>A (p.Ala1671Asp) c.4991C>A (p.Ala1664Asp) c.4898C>A (p.Ala1633Asp) c.3452C>A (p.Ala1151Asp) | |
| 8 | g.41933341C>A | CA371064405 | KAT6A | c.4879G>T (p.Ala1627Ser) c.4885G>T (p.Ala1629Ser) c.3560G>T c.5011G>T (p.Ala1671Ser) c.4990G>T (p.Ala1664Ser) c.4897G>T (p.Ala1633Ser) c.3451G>T (p.Ala1151Ser) | gnomAD v4 |
| 8 | g.41933341C= | CA1779195890 | KAT6A | c.4879G= (p.Ala1627=) c.4885G= (p.Ala1629=) c.3560G= c.5011G= (p.Ala1671=) c.4990G= (p.Ala1664=) c.4897G= (p.Ala1633=) c.3451G= (p.Ala1151=) | |
| 8 | g.41933341C>G | CA371064407 | KAT6A | c.4879G>C (p.Ala1627Pro) c.4885G>C (p.Ala1629Pro) c.3560G>C c.5011G>C (p.Ala1671Pro) c.4990G>C (p.Ala1664Pro) c.4897G>C (p.Ala1633Pro) c.3451G>C (p.Ala1151Pro) | |
| 8 | g.41933341C>T | CA371064409 | KAT6A | c.4879G>A (p.Ala1627Thr) c.4885G>A (p.Ala1629Thr) c.3560G>A c.5011G>A (p.Ala1671Thr) c.4990G>A (p.Ala1664Thr) c.4897G>A (p.Ala1633Thr) c.3451G>A (p.Ala1151Thr) | dbSNP gnomAD v4 |
| 8 | g.41933342A>C | CA460783524 | KAT6A | c.4878T>G (p.Pro1626=) c.4884T>G (p.Pro1628=) c.3559T>G c.5010T>G (p.Pro1670=) c.4989T>G (p.Pro1663=) c.4896T>G (p.Pro1632=) c.3450T>G (p.Pro1150=) | |
| 8 | g.41933342A>G | CA460783525 | KAT6A | c.4878T>C (p.Pro1626=) c.4884T>C (p.Pro1628=) c.3559T>C c.5010T>C (p.Pro1670=) c.4989T>C (p.Pro1663=) c.4896T>C (p.Pro1632=) c.3450T>C (p.Pro1150=) | |
| 8 | g.41933342A>T | CA460783527 | KAT6A | c.4878T>A (p.Pro1626=) c.4884T>A (p.Pro1628=) c.3559T>A c.5010T>A (p.Pro1670=) c.4989T>A (p.Pro1663=) c.4896T>A (p.Pro1632=) c.3450T>A (p.Pro1150=) | |
| 8 | g.41933343G>A | CA371064411 | KAT6A | c.4877C>T (p.Pro1626Leu) c.4883C>T (p.Pro1628Leu) c.3558C>T c.5009C>T (p.Pro1670Leu) c.4988C>T (p.Pro1663Leu) c.4895C>T (p.Pro1632Leu) c.3449C>T (p.Pro1150Leu) | gnomAD v4 |
| 8 | g.41933343G>C | CA371064414 | KAT6A | c.4877C>G (p.Pro1626Arg) c.4883C>G (p.Pro1628Arg) c.3558C>G c.5009C>G (p.Pro1670Arg) c.4988C>G (p.Pro1663Arg) c.4895C>G (p.Pro1632Arg) c.3449C>G (p.Pro1150Arg) | |
| 8 | g.41933343G>T | CA371064413 | KAT6A | c.4877C>A (p.Pro1626His) c.4883C>A (p.Pro1628His) c.3558C>A c.5009C>A (p.Pro1670His) c.4988C>A (p.Pro1663His) c.4895C>A (p.Pro1632His) c.3449C>A (p.Pro1150His) | |
| 8 | g.41933344G>A | CA4729414 | KAT6A | c.4876C>T (p.Pro1626Ser) c.4882C>T (p.Pro1628Ser) c.3557C>T c.5008C>T (p.Pro1670Ser) c.4987C>T (p.Pro1663Ser) c.4894C>T (p.Pro1632Ser) c.3448C>T (p.Pro1150Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.41933344G>C | CA371064417 | KAT6A | c.4876C>G (p.Pro1626Ala) c.4882C>G (p.Pro1628Ala) c.3557C>G c.5008C>G (p.Pro1670Ala) c.4987C>G (p.Pro1663Ala) c.4894C>G (p.Pro1632Ala) c.3448C>G (p.Pro1150Ala) | gnomAD v4 |
| 8 | g.41933344G= | CA1779195891 | KAT6A | c.4876C= (p.Pro1626=) c.4882C= (p.Pro1628=) c.3557C= c.5008C= (p.Pro1670=) c.4987C= (p.Pro1663=) c.4894C= (p.Pro1632=) c.3448C= (p.Pro1150=) | |
| 8 | g.41933344G>T | CA371064420 | KAT6A | c.4876C>A (p.Pro1626Thr) c.4882C>A (p.Pro1628Thr) c.3557C>A c.5008C>A (p.Pro1670Thr) c.4987C>A (p.Pro1663Thr) c.4894C>A (p.Pro1632Thr) c.3448C>A (p.Pro1150Thr) | gnomAD v4 |
| 8 | g.41933345C>A | CA371064423 | KAT6A | c.4875G>T (p.Gln1625His) c.4881G>T (p.Gln1627His) c.3556G>T c.5007G>T (p.Gln1669His) c.4986G>T (p.Gln1662His) c.4893G>T (p.Gln1631His) c.3447G>T (p.Gln1149His) | gnomAD v4 |
| 8 | g.41933345C>G | CA371064425 | KAT6A | c.4875G>C (p.Gln1625His) c.4881G>C (p.Gln1627His) c.3556G>C c.5007G>C (p.Gln1669His) c.4986G>C (p.Gln1662His) c.4893G>C (p.Gln1631His) c.3447G>C (p.Gln1149His) | |
| 8 | g.41933345C>T | CA460783529 | KAT6A | c.4875G>A (p.Gln1625=) c.4881G>A (p.Gln1627=) c.3556G>A c.5007G>A (p.Gln1669=) c.4986G>A (p.Gln1662=) c.4893G>A (p.Gln1631=) c.3447G>A (p.Gln1149=) | gnomAD v4 |
| 8 | g.41933346T>A | CA371064427 | KAT6A | c.4874A>T (p.Gln1625Leu) c.4880A>T (p.Gln1627Leu) c.3555A>T c.5006A>T (p.Gln1669Leu) c.4985A>T (p.Gln1662Leu) c.4892A>T (p.Gln1631Leu) c.3446A>T (p.Gln1149Leu) | |
| 8 | g.41933346T>C | CA371064430 | KAT6A | c.4874A>G (p.Gln1625Arg) c.4880A>G (p.Gln1627Arg) c.3555A>G c.5006A>G (p.Gln1669Arg) c.4985A>G (p.Gln1662Arg) c.4892A>G (p.Gln1631Arg) c.3446A>G (p.Gln1149Arg) | |
| 8 | g.41933346T>G | CA371064432 | KAT6A | c.4874A>C (p.Gln1625Pro) c.4880A>C (p.Gln1627Pro) c.3555A>C c.5006A>C (p.Gln1669Pro) c.4985A>C (p.Gln1662Pro) c.4892A>C (p.Gln1631Pro) c.3446A>C (p.Gln1149Pro) | |
| 8 | g.41933347G>A | CA371064434 | KAT6A | c.4873C>T (p.Gln1625Ter) c.4879C>T (p.Gln1627Ter) c.3554C>T c.5005C>T (p.Gln1669Ter) c.4984C>T (p.Gln1662Ter) c.4891C>T (p.Gln1631Ter) c.3445C>T (p.Gln1149Ter) | gnomAD v4 |
| 8 | g.41933347G>C | CA371064436 | KAT6A | c.4873C>G (p.Gln1625Glu) c.4879C>G (p.Gln1627Glu) c.3554C>G c.5005C>G (p.Gln1669Glu) c.4984C>G (p.Gln1662Glu) c.4891C>G (p.Gln1631Glu) c.3445C>G (p.Gln1149Glu) | |
| 8 | g.41933347G>T | CA371064438 | KAT6A | c.4873C>A (p.Gln1625Lys) c.4879C>A (p.Gln1627Lys) c.3554C>A c.5005C>A (p.Gln1669Lys) c.4984C>A (p.Gln1662Lys) c.4891C>A (p.Gln1631Lys) c.3445C>A (p.Gln1149Lys) | |
| 8 | g.41933348G>A | CA460783534 | KAT6A | c.4872C>T (p.Val1624=) c.4878C>T (p.Val1626=) c.3553C>T c.5004C>T (p.Val1668=) c.4983C>T (p.Val1661=) c.4890C>T (p.Val1630=) c.3444C>T (p.Val1148=) | |
| 8 | g.41933348G>C | CA4729415 | KAT6A | c.4872C>G (p.Val1624=) c.4878C>G (p.Val1626=) c.3553C>G c.5004C>G (p.Val1668=) c.4983C>G (p.Val1661=) c.4890C>G (p.Val1630=) c.3444C>G (p.Val1148=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.41933348G= | CA1779195892 | KAT6A | c.4872C= (p.Val1624=) c.4878C= (p.Val1626=) c.3553C= c.5004C= (p.Val1668=) c.4983C= (p.Val1661=) c.4890C= (p.Val1630=) c.3444C= (p.Val1148=) | |
| 8 | g.41933348G>T | CA460783535 | KAT6A | c.4872C>A (p.Val1624=) c.4878C>A (p.Val1626=) c.3553C>A c.5004C>A (p.Val1668=) c.4983C>A (p.Val1661=) c.4890C>A (p.Val1630=) c.3444C>A (p.Val1148=) | |
| 8 | g.41933349A= | CA1779195893 | KAT6A | c.4871T= (p.Val1624=) c.4877T= (p.Val1626=) c.3552T= c.5003T= (p.Val1668=) c.4982T= (p.Val1661=) c.4889T= (p.Val1630=) c.3443T= (p.Val1148=) | |
| 8 | g.41933349A>C | CA371064441 | KAT6A | c.4871T>G (p.Val1624Gly) c.4877T>G (p.Val1626Gly) c.3552T>G c.5003T>G (p.Val1668Gly) c.4982T>G (p.Val1661Gly) c.4889T>G (p.Val1630Gly) c.3443T>G (p.Val1148Gly) | dbSNP gnomAD v4 |
| 8 | g.41933349A>G | CA371064439 | KAT6A | c.4871T>C (p.Val1624Ala) c.4877T>C (p.Val1626Ala) c.3552T>C c.5003T>C (p.Val1668Ala) c.4982T>C (p.Val1661Ala) c.4889T>C (p.Val1630Ala) c.3443T>C (p.Val1148Ala) | |
| 8 | g.41933349A>T | CA371064440 | KAT6A | c.4871T>A (p.Val1624Asp) c.4877T>A (p.Val1626Asp) c.3552T>A c.5003T>A (p.Val1668Asp) c.4982T>A (p.Val1661Asp) c.4889T>A (p.Val1630Asp) c.3443T>A (p.Val1148Asp) | |
| 8 | g.41933350C>A | CA371064442 | KAT6A | c.4870G>T (p.Val1624Phe) c.4876G>T (p.Val1626Phe) c.3551G>T c.5002G>T (p.Val1668Phe) c.4981G>T (p.Val1661Phe) c.4888G>T (p.Val1630Phe) c.3442G>T (p.Val1148Phe) | |
| 8 | g.41933350C= | CA1779195894 | KAT6A | c.4870G= (p.Val1624=) c.4876G= (p.Val1626=) c.3551G= c.5002G= (p.Val1668=) c.4981G= (p.Val1661=) c.4888G= (p.Val1630=) c.3442G= (p.Val1148=) | |
| 8 | g.41933350C>G | CA371064443 | KAT6A | c.4870G>C (p.Val1624Leu) c.4876G>C (p.Val1626Leu) c.3551G>C c.5002G>C (p.Val1668Leu) c.4981G>C (p.Val1661Leu) c.4888G>C (p.Val1630Leu) c.3442G>C (p.Val1148Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.41933350C>T | CA4729416 | KAT6A | c.4870G>A (p.Val1624Ile) c.4876G>A (p.Val1626Ile) c.3551G>A c.5002G>A (p.Val1668Ile) c.4981G>A (p.Val1661Ile) c.4888G>A (p.Val1630Ile) c.3442G>A (p.Val1148Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.41933351G>A | CA460783539 | KAT6A | c.4869C>T (p.Ser1623=) c.4875C>T (p.Ser1625=) c.3550C>T c.5001C>T (p.Ser1667=) c.4980C>T (p.Ser1660=) c.4887C>T (p.Ser1629=) c.3441C>T (p.Ser1147=) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 8 | g.41933351G>C | CA371064444 | KAT6A | c.4869C>G (p.Ser1623Arg) c.4875C>G (p.Ser1625Arg) c.3550C>G c.5001C>G (p.Ser1667Arg) c.4980C>G (p.Ser1660Arg) c.4887C>G (p.Ser1629Arg) c.3441C>G (p.Ser1147Arg) | |
| 8 | g.41933351G= | CA1779195895 | KAT6A | c.4869C= (p.Ser1623=) c.4875C= (p.Ser1625=) c.3550C= c.5001C= (p.Ser1667=) c.4980C= (p.Ser1660=) c.4887C= (p.Ser1629=) c.3441C= (p.Ser1147=) | |
| 8 | g.41933351G>T | CA371064445 | KAT6A | c.4869C>A (p.Ser1623Arg) c.4875C>A (p.Ser1625Arg) c.3550C>A c.5001C>A (p.Ser1667Arg) c.4980C>A (p.Ser1660Arg) c.4887C>A (p.Ser1629Arg) c.3441C>A (p.Ser1147Arg) | gnomAD v4 |
| 8 | g.41933352C>A | CA371064446 | KAT6A | c.4868G>T (p.Ser1623Ile) c.4874G>T (p.Ser1625Ile) c.3549G>T c.5000G>T (p.Ser1667Ile) c.4979G>T (p.Ser1660Ile) c.4886G>T (p.Ser1629Ile) c.3440G>T (p.Ser1147Ile) | |
| 8 | g.41933352C>G | CA371064447 | KAT6A | c.4868G>C (p.Ser1623Thr) c.4874G>C (p.Ser1625Thr) c.3549G>C c.5000G>C (p.Ser1667Thr) c.4979G>C (p.Ser1660Thr) c.4886G>C (p.Ser1629Thr) c.3440G>C (p.Ser1147Thr) | |
| 8 | g.41933352C>T | CA371064448 | KAT6A | c.4868G>A (p.Ser1623Asn) c.4874G>A (p.Ser1625Asn) c.3549G>A c.5000G>A (p.Ser1667Asn) c.4979G>A (p.Ser1660Asn) c.4886G>A (p.Ser1629Asn) c.3440G>A (p.Ser1147Asn) | |
| 8 | g.41933353T>A | CA371064449 | KAT6A | c.4867A>T (p.Ser1623Cys) c.4873A>T (p.Ser1625Cys) c.3548A>T c.4999A>T (p.Ser1667Cys) c.4978A>T (p.Ser1660Cys) c.4885A>T (p.Ser1629Cys) c.3439A>T (p.Ser1147Cys) | |
| 8 | g.41933353T>C | CA371064450 | KAT6A | c.4867A>G (p.Ser1623Gly) c.4873A>G (p.Ser1625Gly) c.3548A>G c.4999A>G (p.Ser1667Gly) c.4978A>G (p.Ser1660Gly) c.4885A>G (p.Ser1629Gly) c.3439A>G (p.Ser1147Gly) | |
| 8 | g.41933353T>G | CA371064451 | KAT6A | c.4867A>C (p.Ser1623Arg) c.4873A>C (p.Ser1625Arg) c.3548A>C c.4999A>C (p.Ser1667Arg) c.4978A>C (p.Ser1660Arg) c.4885A>C (p.Ser1629Arg) c.3439A>C (p.Ser1147Arg) | |
| 8 | g.41933354G>A | CA460783543 | KAT6A | c.4866C>T (p.Ser1622=) c.4872C>T (p.Ser1624=) c.3547C>T c.4998C>T (p.Ser1666=) c.4977C>T (p.Ser1659=) c.4884C>T (p.Ser1628=) c.3438C>T (p.Ser1146=) | |
| 8 | g.41933354G>C | CA371064453 | KAT6A | c.4866C>G (p.Ser1622Arg) c.4872C>G (p.Ser1624Arg) c.3547C>G c.4998C>G (p.Ser1666Arg) c.4977C>G (p.Ser1659Arg) c.4884C>G (p.Ser1628Arg) c.3438C>G (p.Ser1146Arg) | gnomAD v4 |
| 8 | g.41933354G>T | CA371064452 | KAT6A | c.4866C>A (p.Ser1622Arg) c.4872C>A (p.Ser1624Arg) c.3547C>A c.4998C>A (p.Ser1666Arg) c.4977C>A (p.Ser1659Arg) c.4884C>A (p.Ser1628Arg) c.3438C>A (p.Ser1146Arg) | |
| 8 | g.41933355C>A | CA175939089 | KAT6A | c.4865G>T (p.Ser1622Ile) c.4871G>T (p.Ser1624Ile) c.3546G>T c.4997G>T (p.Ser1666Ile) c.4976G>T (p.Ser1659Ile) c.4883G>T (p.Ser1628Ile) c.3437G>T (p.Ser1146Ile) | dbSNP gnomAD v4 |
| 8 | g.41933355C= | CA1779195896 | KAT6A | c.4865G= (p.Ser1622=) c.4871G= (p.Ser1624=) c.3546G= c.4997G= (p.Ser1666=) c.4976G= (p.Ser1659=) c.4883G= (p.Ser1628=) c.3437G= (p.Ser1146=) | |
| 8 | g.41933355C>G | CA371064454 | KAT6A | c.4865G>C (p.Ser1622Thr) c.4871G>C (p.Ser1624Thr) c.3546G>C c.4997G>C (p.Ser1666Thr) c.4976G>C (p.Ser1659Thr) c.4883G>C (p.Ser1628Thr) c.3437G>C (p.Ser1146Thr) | |
| 8 | g.41933355C>T | CA371064455 | KAT6A | c.4865G>A (p.Ser1622Asn) c.4871G>A (p.Ser1624Asn) c.3546G>A c.4997G>A (p.Ser1666Asn) c.4976G>A (p.Ser1659Asn) c.4883G>A (p.Ser1628Asn) c.3437G>A (p.Ser1146Asn) | |
| 8 | g.41933356T>A | CA371064456 | KAT6A | c.4864A>T (p.Ser1622Cys) c.4870A>T (p.Ser1624Cys) c.3545A>T c.4996A>T (p.Ser1666Cys) c.4975A>T (p.Ser1659Cys) c.4882A>T (p.Ser1628Cys) c.3436A>T (p.Ser1146Cys) | |
| 8 | g.41933356T>C | CA371064457 | KAT6A | c.4864A>G (p.Ser1622Gly) c.4870A>G (p.Ser1624Gly) c.3545A>G c.4996A>G (p.Ser1666Gly) c.4975A>G (p.Ser1659Gly) c.4882A>G (p.Ser1628Gly) c.3436A>G (p.Ser1146Gly) | |
| 8 | g.41933356T>G | CA371064458 | KAT6A | c.4864A>C (p.Ser1622Arg) c.4870A>C (p.Ser1624Arg) c.3545A>C c.4996A>C (p.Ser1666Arg) c.4975A>C (p.Ser1659Arg) c.4882A>C (p.Ser1628Arg) c.3436A>C (p.Ser1146Arg) | |
| 8 | g.41933357C>A | CA371064459 | KAT6A | c.4863G>T (p.Gln1621His) c.4869G>T (p.Gln1623His) c.3544G>T c.4995G>T (p.Gln1665His) c.4974G>T (p.Gln1658His) c.4881G>T (p.Gln1627His) c.3435G>T (p.Gln1145His) | |
| 8 | g.41933357C>G | CA371064460 | KAT6A | c.4863G>C (p.Gln1621His) c.4869G>C (p.Gln1623His) c.3544G>C c.4995G>C (p.Gln1665His) c.4974G>C (p.Gln1658His) c.4881G>C (p.Gln1627His) c.3435G>C (p.Gln1145His) | |
| 8 | g.41933357C>T | CA460783547 | KAT6A | c.4863G>A (p.Gln1621=) c.4869G>A (p.Gln1623=) c.3544G>A c.4995G>A (p.Gln1665=) c.4974G>A (p.Gln1658=) c.4881G>A (p.Gln1627=) c.3435G>A (p.Gln1145=) | gnomAD v4 |
| 8 | g.41933358T>A | CA371064461 | KAT6A | c.4862A>T (p.Gln1621Leu) c.4868A>T (p.Gln1623Leu) c.3543A>T c.4994A>T (p.Gln1665Leu) c.4973A>T (p.Gln1658Leu) c.4880A>T (p.Gln1627Leu) c.3434A>T (p.Gln1145Leu) | |
| 8 | g.41933358T>C | CA371064462 | KAT6A | c.4862A>G (p.Gln1621Arg) c.4868A>G (p.Gln1623Arg) c.3543A>G c.4994A>G (p.Gln1665Arg) c.4973A>G (p.Gln1658Arg) c.4880A>G (p.Gln1627Arg) c.3434A>G (p.Gln1145Arg) | |
| 8 | g.41933358T>G | CA371064463 | KAT6A | c.4862A>C (p.Gln1621Pro) c.4868A>C (p.Gln1623Pro) c.3543A>C c.4994A>C (p.Gln1665Pro) c.4973A>C (p.Gln1658Pro) c.4880A>C (p.Gln1627Pro) c.3434A>C (p.Gln1145Pro) | |
| 8 | g.41933359G>A | CA371064464 | KAT6A | c.4861C>T (p.Gln1621Ter) c.4867C>T (p.Gln1623Ter) c.3542C>T c.4993C>T (p.Gln1665Ter) c.4972C>T (p.Gln1658Ter) c.4879C>T (p.Gln1627Ter) c.3433C>T (p.Gln1145Ter) | ClinVar dbSNP |
| 8 | g.41933359G>C | CA371064465 | KAT6A | c.4861C>G (p.Gln1621Glu) c.4867C>G (p.Gln1623Glu) c.3542C>G c.4993C>G (p.Gln1665Glu) c.4972C>G (p.Gln1658Glu) c.4879C>G (p.Gln1627Glu) c.3433C>G (p.Gln1145Glu) | |
| 8 | g.41933359G>T | CA371064466 | KAT6A | c.4861C>A (p.Gln1621Lys) c.4867C>A (p.Gln1623Lys) c.3542C>A c.4993C>A (p.Gln1665Lys) c.4972C>A (p.Gln1658Lys) c.4879C>A (p.Gln1627Lys) c.3433C>A (p.Gln1145Lys) | |
| 8 | g.41933360C>A | CA371064468 | KAT6A | c.4860G>T (p.Gln1620His) c.4866G>T (p.Gln1622His) c.3541G>T c.4992G>T (p.Gln1664His) c.4971G>T (p.Gln1657His) c.4878G>T (p.Gln1626His) c.3432G>T (p.Gln1144His) | gnomAD v4 |
| 8 | g.41933360C>G | CA371064467 | KAT6A | c.4860G>C (p.Gln1620His) c.4866G>C (p.Gln1622His) c.3541G>C c.4992G>C (p.Gln1664His) c.4971G>C (p.Gln1657His) c.4878G>C (p.Gln1626His) c.3432G>C (p.Gln1144His) | |
| 8 | g.41933360C>T | CA460783551 | KAT6A | c.4860G>A (p.Gln1620=) c.4866G>A (p.Gln1622=) c.3541G>A c.4992G>A (p.Gln1664=) c.4971G>A (p.Gln1657=) c.4878G>A (p.Gln1626=) c.3432G>A (p.Gln1144=) | ClinVar gnomAD v4 |
| 8 | g.41933361T>A | CA371064469 | KAT6A | c.4859A>T (p.Gln1620Leu) c.4865A>T (p.Gln1622Leu) c.3540A>T c.4991A>T (p.Gln1664Leu) c.4970A>T (p.Gln1657Leu) c.4877A>T (p.Gln1626Leu) c.3431A>T (p.Gln1144Leu) | |
| 8 | g.41933361T>C | CA371064471 | KAT6A | c.4859A>G (p.Gln1620Arg) c.4865A>G (p.Gln1622Arg) c.3540A>G c.4991A>G (p.Gln1664Arg) c.4970A>G (p.Gln1657Arg) c.4877A>G (p.Gln1626Arg) c.3431A>G (p.Gln1144Arg) | ClinVar |
| 8 | g.41933361T>G | CA371064470 | KAT6A | c.4859A>C (p.Gln1620Pro) c.4865A>C (p.Gln1622Pro) c.3540A>C c.4991A>C (p.Gln1664Pro) c.4970A>C (p.Gln1657Pro) c.4877A>C (p.Gln1626Pro) c.3431A>C (p.Gln1144Pro) | |
| 8 | g.41933362G>A | CA371064472 | KAT6A | c.4858C>T (p.Gln1620Ter) c.4864C>T (p.Gln1622Ter) c.3539C>T c.4990C>T (p.Gln1664Ter) c.4969C>T (p.Gln1657Ter) c.4876C>T (p.Gln1626Ter) c.3430C>T (p.Gln1144Ter) | gnomAD v4 |
| 8 | g.41933362G>C | CA371064474 | KAT6A | c.4858C>G (p.Gln1620Glu) c.4864C>G (p.Gln1622Glu) c.3539C>G c.4990C>G (p.Gln1664Glu) c.4969C>G (p.Gln1657Glu) c.4876C>G (p.Gln1626Glu) c.3430C>G (p.Gln1144Glu) | |
| 8 | g.41933362G>T | CA371064473 | KAT6A | c.4858C>A (p.Gln1620Lys) c.4864C>A (p.Gln1622Lys) c.3539C>A c.4990C>A (p.Gln1664Lys) c.4969C>A (p.Gln1657Lys) c.4876C>A (p.Gln1626Lys) c.3430C>A (p.Gln1144Lys) | |
| 8 | g.41933363C>A | CA371064475 | KAT6A | c.4857G>T (p.Met1619Ile) c.4863G>T (p.Met1621Ile) c.3538G>T c.4989G>T (p.Met1663Ile) c.4968G>T (p.Met1656Ile) c.4875G>T (p.Met1625Ile) c.3429G>T (p.Met1143Ile) | gnomAD v4 |
| 8 | g.41933363C= | CA1779195897 | KAT6A | c.4857G= (p.Met1619=) c.4863G= (p.Met1621=) c.3538G= c.4989G= (p.Met1663=) c.4968G= (p.Met1656=) c.4875G= (p.Met1625=) c.3429G= (p.Met1143=) | |
| 8 | g.41933363C>G | CA371064476 | KAT6A | c.4857G>C (p.Met1619Ile) c.4863G>C (p.Met1621Ile) c.3538G>C c.4989G>C (p.Met1663Ile) c.4968G>C (p.Met1656Ile) c.4875G>C (p.Met1625Ile) c.3429G>C (p.Met1143Ile) | |
| 8 | g.41933363C>T | CA371064477 | KAT6A | c.4857G>A (p.Met1619Ile) c.4863G>A (p.Met1621Ile) c.3538G>A c.4989G>A (p.Met1663Ile) c.4968G>A (p.Met1656Ile) c.4875G>A (p.Met1625Ile) c.3429G>A (p.Met1143Ile) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.41933364A>C | CA371064478 | KAT6A | c.4856T>G (p.Met1619Arg) c.4862T>G (p.Met1621Arg) c.3537T>G c.4988T>G (p.Met1663Arg) c.4967T>G (p.Met1656Arg) c.4874T>G (p.Met1625Arg) c.3428T>G (p.Met1143Arg) | |
| 8 | g.41933364A>G | CA371064479 | KAT6A | c.4856T>C (p.Met1619Thr) c.4862T>C (p.Met1621Thr) c.3537T>C c.4988T>C (p.Met1663Thr) c.4967T>C (p.Met1656Thr) c.4874T>C (p.Met1625Thr) c.3428T>C (p.Met1143Thr) | |
| 8 | g.41933364A>T | CA371064480 | KAT6A | c.4856T>A (p.Met1619Lys) c.4862T>A (p.Met1621Lys) c.3537T>A c.4988T>A (p.Met1663Lys) c.4967T>A (p.Met1656Lys) c.4874T>A (p.Met1625Lys) c.3428T>A (p.Met1143Lys) | |
| 8 | g.41933365T>A | CA371064481 | KAT6A | c.4855A>T (p.Met1619Leu) c.4861A>T (p.Met1621Leu) c.3536A>T c.4987A>T (p.Met1663Leu) c.4966A>T (p.Met1656Leu) c.4873A>T (p.Met1625Leu) c.3427A>T (p.Met1143Leu) | |
| 8 | g.41933365T>C | CA371064482 | KAT6A | c.4855A>G (p.Met1619Val) c.4861A>G (p.Met1621Val) c.3536A>G c.4987A>G (p.Met1663Val) c.4966A>G (p.Met1656Val) c.4873A>G (p.Met1625Val) c.3427A>G (p.Met1143Val) | |
| 8 | g.41933365T>G | CA371064483 | KAT6A | c.4855A>C (p.Met1619Leu) c.4861A>C (p.Met1621Leu) c.3536A>C c.4987A>C (p.Met1663Leu) c.4966A>C (p.Met1656Leu) c.4873A>C (p.Met1625Leu) c.3427A>C (p.Met1143Leu) | |
| 8 | g.41933365T= | CA1779195898 | KAT6A | c.4855A= (p.Met1619=) c.4861A= (p.Met1621=) c.3536A= c.4987A= (p.Met1663=) c.4966A= (p.Met1656=) c.4873A= (p.Met1625=) c.3427A= (p.Met1143=) | |
| 8 | g.41933366C>A | CA371064484 | KAT6A | c.4854G>T (p.Met1618Ile) c.4860G>T (p.Met1620Ile) c.3535G>T c.4986G>T (p.Met1662Ile) c.4965G>T (p.Met1655Ile) c.4872G>T (p.Met1624Ile) c.3426G>T (p.Met1142Ile) | gnomAD v4 |
| 8 | g.41933366C>G | CA371064485 | KAT6A | c.4854G>C (p.Met1618Ile) c.4860G>C (p.Met1620Ile) c.3535G>C c.4986G>C (p.Met1662Ile) c.4965G>C (p.Met1655Ile) c.4872G>C (p.Met1624Ile) c.3426G>C (p.Met1142Ile) | |
| 8 | g.41933366C>T | CA371064486 | KAT6A | c.4854G>A (p.Met1618Ile) c.4860G>A (p.Met1620Ile) c.3535G>A c.4986G>A (p.Met1662Ile) c.4965G>A (p.Met1655Ile) c.4872G>A (p.Met1624Ile) c.3426G>A (p.Met1142Ile) | |
| 8 | g.41933373_41933390dup | CA1779195899 | KAT6A | c.4837_4854dup (p.Met1618_Met1619insGlySerSerCysSerMet) c.4843_4860dup (p.Met1620_Met1621insGlySerSerCysSerMet) c.3518_3535dup c.4969_4986dup (p.Met1662_Met1663insGlySerSerCysSerMet) c.4948_4965dup (p.Met1655_Met1656insGlySerSerCysSerMet) c.4855_4872dup (p.Met1624_Met1625insGlySerSerCysSerMet) c.3409_3426dup (p.Met1142_Met1143insGlySerSerCysSerMet) | ClinVar dbSNP |
| 8 | g.41933373_41933390del | CA2580078484 | KAT6A | c.4837_4854del (p.Gly1613_Met1618del) c.4843_4860del (p.Gly1615_Met1620del) c.3518_3535del c.4969_4986del (p.Gly1657_Met1662del) c.4948_4965del (p.Gly1650_Met1655del) c.4855_4872del (p.Gly1619_Met1624del) c.3409_3426del (p.Gly1137_Met1142del) | ClinVar gnomAD v4 |
| 8 | g.41933367A= | CA1779195900 | KAT6A | c.4853T= (p.Met1618=) c.4859T= (p.Met1620=) c.3534T= c.4985T= (p.Met1662=) c.4964T= (p.Met1655=) c.4871T= (p.Met1624=) c.3425T= (p.Met1142=) | |
| 8 | g.41933367A>C | CA371064489 | KAT6A | c.4853T>G (p.Met1618Arg) c.4859T>G (p.Met1620Arg) c.3534T>G c.4985T>G (p.Met1662Arg) c.4964T>G (p.Met1655Arg) c.4871T>G (p.Met1624Arg) c.3425T>G (p.Met1142Arg) | |
| 8 | g.41933367A>G | CA371064487 | KAT6A | c.4853T>C (p.Met1618Thr) c.4859T>C (p.Met1620Thr) c.3534T>C c.4985T>C (p.Met1662Thr) c.4964T>C (p.Met1655Thr) c.4871T>C (p.Met1624Thr) c.3425T>C (p.Met1142Thr) | dbSNP |
| 8 | g.41933367A>T | CA371064488 | KAT6A | c.4853T>A (p.Met1618Lys) c.4859T>A (p.Met1620Lys) c.3534T>A c.4985T>A (p.Met1662Lys) c.4964T>A (p.Met1655Lys) c.4871T>A (p.Met1624Lys) c.3425T>A (p.Met1142Lys) | |
| 8 | g.41933368T>A | CA371064490 | KAT6A | c.4852A>T (p.Met1618Leu) c.4858A>T (p.Met1620Leu) c.3533A>T c.4984A>T (p.Met1662Leu) c.4963A>T (p.Met1655Leu) c.4870A>T (p.Met1624Leu) c.3424A>T (p.Met1142Leu) | gnomAD v4 |
| 8 | g.41933368T>C | CA371064491 | KAT6A | c.4852A>G (p.Met1618Val) c.4858A>G (p.Met1620Val) c.3533A>G c.4984A>G (p.Met1662Val) c.4963A>G (p.Met1655Val) c.4870A>G (p.Met1624Val) c.3424A>G (p.Met1142Val) | |
| 8 | g.41933368T>G | CA371064492 | KAT6A | c.4852A>C (p.Met1618Leu) c.4858A>C (p.Met1620Leu) c.3533A>C c.4984A>C (p.Met1662Leu) c.4963A>C (p.Met1655Leu) c.4870A>C (p.Met1624Leu) c.3424A>C (p.Met1142Leu) | |
| 8 | g.41933369G>A | CA460783557 | KAT6A | c.4851C>T (p.Ser1617=) c.4857C>T (p.Ser1619=) c.3532C>T c.4983C>T (p.Ser1661=) c.4962C>T (p.Ser1654=) c.4869C>T (p.Ser1623=) c.3423C>T (p.Ser1141=) | |
| 8 | g.41933369G>C | CA371064493 | KAT6A | c.4851C>G (p.Ser1617Arg) c.4857C>G (p.Ser1619Arg) c.3532C>G c.4983C>G (p.Ser1661Arg) c.4962C>G (p.Ser1654Arg) c.4869C>G (p.Ser1623Arg) c.3423C>G (p.Ser1141Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.41933369G= | CA1779195901 | KAT6A | c.4851C= (p.Ser1617=) c.4857C= (p.Ser1619=) c.3532C= c.4983C= (p.Ser1661=) c.4962C= (p.Ser1654=) c.4869C= (p.Ser1623=) c.3423C= (p.Ser1141=) | |
| 8 | g.41933369G>T | CA371064494 | KAT6A | c.4851C>A (p.Ser1617Arg) c.4857C>A (p.Ser1619Arg) c.3532C>A c.4983C>A (p.Ser1661Arg) c.4962C>A (p.Ser1654Arg) c.4869C>A (p.Ser1623Arg) c.3423C>A (p.Ser1141Arg) | gnomAD v4 |