Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
8 | g.41933156_41933209del | CA2687076939 | KAT6A | c.5022_5075del (p.Pro1675_Pro1692del) c.5028_5081del (p.Pro1677_Pro1694del) c.3703_3756del c.5154_5207del (p.Pro1719_Pro1736del) c.5133_5186del (p.Pro1712_Pro1729del) c.5040_5093del (p.Pro1681_Pro1698del) c.3594_3647del (p.Pro1199_Pro1216del) | gnomAD v4 |
8 | g.41933175_41933237del | CA2687076941 | KAT6A | c.4988_5050del (p.Pro1663_Pro1683del) c.4994_5056del (p.Pro1665_Pro1685del) c.3669_3731del c.5120_5182del (p.Pro1707_Pro1727del) c.5099_5161del (p.Pro1700_Pro1720del) c.5006_5068del (p.Pro1669_Pro1689del) c.3560_3622del (p.Pro1187_Pro1207del) | gnomAD v4 |
8 | g.41933201_41933203dup | CA4729375 | KAT6A | c.5022_5024dup (p.Pro1675_Gln1676insPro) c.5028_5030dup (p.Pro1677_Gln1678insPro) c.3703_3705dup c.5154_5156dup (p.Pro1719_Gln1720insPro) c.5133_5135dup (p.Pro1712_Gln1713insPro) c.5040_5042dup (p.Pro1681_Gln1682insPro) c.3594_3596dup (p.Pro1199_Gln1200insPro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.41933201T>A | CA460783629 | KAT6A | c.5019A>T (p.Pro1673=) c.5025A>T (p.Pro1675=) c.3700A>T c.5151A>T (p.Pro1717=) c.5130A>T (p.Pro1710=) c.5037A>T (p.Pro1679=) c.3591A>T (p.Pro1197=) | ClinVar gnomAD v4 |
8 | g.41933201T>C | CA460783630 | KAT6A | c.5019A>G (p.Pro1673=) c.5025A>G (p.Pro1675=) c.3700A>G c.5151A>G (p.Pro1717=) c.5130A>G (p.Pro1710=) c.5037A>G (p.Pro1679=) c.3591A>G (p.Pro1197=) | ClinVar dbSNP gnomAD v4 |
8 | g.41933201T>G | CA460783632 | KAT6A | c.5019A>C (p.Pro1673=) c.5025A>C (p.Pro1675=) c.3700A>C c.5151A>C (p.Pro1717=) c.5130A>C (p.Pro1710=) c.5037A>C (p.Pro1679=) c.3591A>C (p.Pro1197=) | |
8 | g.41933201T= | CA1779195816 | KAT6A | c.5019A= (p.Pro1673=) c.5025A= (p.Pro1675=) c.3700A= c.5151A= (p.Pro1717=) c.5130A= (p.Pro1710=) c.5037A= (p.Pro1679=) c.3591A= (p.Pro1197=) | |
8 | g.41933202G>A | CA371063833 | KAT6A | c.5018C>T (p.Pro1673Leu) c.5024C>T (p.Pro1675Leu) c.3699C>T c.5150C>T (p.Pro1717Leu) c.5129C>T (p.Pro1710Leu) c.5036C>T (p.Pro1679Leu) c.3590C>T (p.Pro1197Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
8 | g.41933202G>C | CA371063834 | KAT6A | c.5018C>G (p.Pro1673Arg) c.5024C>G (p.Pro1675Arg) c.3699C>G c.5150C>G (p.Pro1717Arg) c.5129C>G (p.Pro1710Arg) c.5036C>G (p.Pro1679Arg) c.3590C>G (p.Pro1197Arg) | |
8 | g.41933202G= | CA1779195817 | KAT6A | c.5018C= (p.Pro1673=) c.5024C= (p.Pro1675=) c.3699C= c.5150C= (p.Pro1717=) c.5129C= (p.Pro1710=) c.5036C= (p.Pro1679=) c.3590C= (p.Pro1197=) | |
8 | g.41933202G>T | CA371063835 | KAT6A | c.5018C>A (p.Pro1673Gln) c.5024C>A (p.Pro1675Gln) c.3699C>A c.5150C>A (p.Pro1717Gln) c.5129C>A (p.Pro1710Gln) c.5036C>A (p.Pro1679Gln) c.3590C>A (p.Pro1197Gln) | gnomAD v4 |
8 | g.41933203G>A | CA371063836 | KAT6A | c.5017C>T (p.Pro1673Ser) c.5023C>T (p.Pro1675Ser) c.3698C>T c.5149C>T (p.Pro1717Ser) c.5128C>T (p.Pro1710Ser) c.5035C>T (p.Pro1679Ser) c.3589C>T (p.Pro1197Ser) | |
8 | g.41933203G>C | CA371063837 | KAT6A | c.5017C>G (p.Pro1673Ala) c.5023C>G (p.Pro1675Ala) c.3698C>G c.5149C>G (p.Pro1717Ala) c.5128C>G (p.Pro1710Ala) c.5035C>G (p.Pro1679Ala) c.3589C>G (p.Pro1197Ala) | |
8 | g.41933203G>T | CA371063838 | KAT6A | c.5017C>A (p.Pro1673Thr) c.5023C>A (p.Pro1675Thr) c.3698C>A c.5149C>A (p.Pro1717Thr) c.5128C>A (p.Pro1710Thr) c.5035C>A (p.Pro1679Thr) c.3589C>A (p.Pro1197Thr) | gnomAD v4 |
8 | g.41933204A= | CA1779195818 | KAT6A | c.5016T= (p.Pro1672=) c.5022T= (p.Pro1674=) c.3697T= c.5148T= (p.Pro1716=) c.5127T= (p.Pro1709=) c.5034T= (p.Pro1678=) c.3588T= (p.Pro1196=) | |
8 | g.41933204A>C | CA460783639 | KAT6A | c.5016T>G (p.Pro1672=) c.5022T>G (p.Pro1674=) c.3697T>G c.5148T>G (p.Pro1716=) c.5127T>G (p.Pro1709=) c.5034T>G (p.Pro1678=) c.3588T>G (p.Pro1196=) | |
8 | g.41933204A>G | CA175938859 | KAT6A | c.5016T>C (p.Pro1672=) c.5022T>C (p.Pro1674=) c.3697T>C c.5148T>C (p.Pro1716=) c.5127T>C (p.Pro1709=) c.5034T>C (p.Pro1678=) c.3588T>C (p.Pro1196=) | dbSNP gnomAD v4 |
8 | g.41933204A>T | CA460783638 | KAT6A | c.5016T>A (p.Pro1672=) c.5022T>A (p.Pro1674=) c.3697T>A c.5148T>A (p.Pro1716=) c.5127T>A (p.Pro1709=) c.5034T>A (p.Pro1678=) c.3588T>A (p.Pro1196=) | |
8 | g.41933205G>A | CA371063839 | KAT6A | c.5015C>T (p.Pro1672Leu) c.5021C>T (p.Pro1674Leu) c.3696C>T c.5147C>T (p.Pro1716Leu) c.5126C>T (p.Pro1709Leu) c.5033C>T (p.Pro1678Leu) c.3587C>T (p.Pro1196Leu) | |
8 | g.41933205G>C | CA371063840 | KAT6A | c.5015C>G (p.Pro1672Arg) c.5021C>G (p.Pro1674Arg) c.3696C>G c.5147C>G (p.Pro1716Arg) c.5126C>G (p.Pro1709Arg) c.5033C>G (p.Pro1678Arg) c.3587C>G (p.Pro1196Arg) | |
8 | g.41933205G>T | CA371063841 | KAT6A | c.5015C>A (p.Pro1672His) c.5021C>A (p.Pro1674His) c.3696C>A c.5147C>A (p.Pro1716His) c.5126C>A (p.Pro1709His) c.5033C>A (p.Pro1678His) c.3587C>A (p.Pro1196His) | |
8 | g.41933213_41933245del | CA2687076946 | KAT6A | c.4983_5015del (p.Pro1662_Pro1672del) c.4989_5021del (p.Pro1664_Pro1674del) c.3664_3696del c.5115_5147del (p.Pro1706_Pro1716del) c.5094_5126del (p.Pro1699_Pro1709del) c.5001_5033del (p.Pro1668_Pro1678del) c.3555_3587del (p.Pro1186_Pro1196del) | gnomAD v4 |
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.41933206G>A | CA371063842 | KAT6A | c.5014C>T (p.Pro1672Ser) c.5020C>T (p.Pro1674Ser) c.3695C>T c.5146C>T (p.Pro1716Ser) c.5125C>T (p.Pro1709Ser) c.5032C>T (p.Pro1678Ser) c.3586C>T (p.Pro1196Ser) | |
8 | g.41933206G>C | CA371063843 | KAT6A | c.5014C>G (p.Pro1672Ala) c.5020C>G (p.Pro1674Ala) c.3695C>G c.5146C>G (p.Pro1716Ala) c.5125C>G (p.Pro1709Ala) c.5032C>G (p.Pro1678Ala) c.3586C>G (p.Pro1196Ala) | |
8 | g.41933206G>T | CA371063844 | KAT6A | c.5014C>A (p.Pro1672Thr) c.5020C>A (p.Pro1674Thr) c.3695C>A c.5146C>A (p.Pro1716Thr) c.5125C>A (p.Pro1709Thr) c.5032C>A (p.Pro1678Thr) c.3586C>A (p.Pro1196Thr) | |
8 | g.41933207C>A | CA371063845 | KAT6A | c.5013G>T (p.Gln1671His) c.5019G>T (p.Gln1673His) c.3694G>T c.5145G>T (p.Gln1715His) c.5124G>T (p.Gln1708His) c.5031G>T (p.Gln1677His) c.3585G>T (p.Gln1195His) | gnomAD v4 |
8 | g.41933207C>G | CA371063846 | KAT6A | c.5013G>C (p.Gln1671His) c.5019G>C (p.Gln1673His) c.3694G>C c.5145G>C (p.Gln1715His) c.5124G>C (p.Gln1708His) c.5031G>C (p.Gln1677His) c.3585G>C (p.Gln1195His) | |
8 | g.41933207C>T | CA460783642 | KAT6A | c.5013G>A (p.Gln1671=) c.5019G>A (p.Gln1673=) c.3694G>A c.5145G>A (p.Gln1715=) c.5124G>A (p.Gln1708=) c.5031G>A (p.Gln1677=) c.3585G>A (p.Gln1195=) | gnomAD v4 |
8 | g.41933208T>A | CA371063847 | KAT6A | c.5012A>T (p.Gln1671Leu) c.5018A>T (p.Gln1673Leu) c.3693A>T c.5144A>T (p.Gln1715Leu) c.5123A>T (p.Gln1708Leu) c.5030A>T (p.Gln1677Leu) c.3584A>T (p.Gln1195Leu) | |
8 | g.41933208T>C | CA371063848 | KAT6A | c.5012A>G (p.Gln1671Arg) c.5018A>G (p.Gln1673Arg) c.3693A>G c.5144A>G (p.Gln1715Arg) c.5123A>G (p.Gln1708Arg) c.5030A>G (p.Gln1677Arg) c.3584A>G (p.Gln1195Arg) | gnomAD v4 |
8 | g.41933208T>G | CA371063849 | KAT6A | c.5012A>C (p.Gln1671Pro) c.5018A>C (p.Gln1673Pro) c.3693A>C c.5144A>C (p.Gln1715Pro) c.5123A>C (p.Gln1708Pro) c.5030A>C (p.Gln1677Pro) c.3584A>C (p.Gln1195Pro) | |
8 | g.41933214_41933225dup | CA1139532356 | KAT6A | c.5001_5012dup (p.Gln1671_Pro1672insProAlaProGln) c.5007_5018dup (p.Gln1673_Pro1674insProAlaProGln) c.3682_3693dup c.5133_5144dup (p.Gln1715_Pro1716insProAlaProGln) c.5112_5123dup (p.Gln1708_Pro1709insProAlaProGln) c.5019_5030dup (p.Gln1677_Pro1678insProAlaProGln) c.3573_3584dup (p.Gln1195_Pro1196insProAlaProGln) | ClinVar dbSNP |
8 | g.41933208_41933259delinsTGTGGTGCTGGTTGTGGTTGTGGCGGCGGCGGCTGTGGCTGCTGTGGAGGCG | CA1779195819 | KAT6A | c.4961_5012delinsCGCCTCCACAGCAGCCACAGCCGCCGCCGCCACAACCACAACCAGCACCACA (p.Pro1654=) c.4967_5018delinsCGCCTCCACAGCAGCCACAGCCGCCGCCGCCACAACCACAACCAGCACCACA (p.Pro1656=) c.3642_3693delinsCGCCTCCACAGCAGCCACAGCCGCCGCCGCCACAACCACAACCAGCACCACA c.5093_5144delinsCGCCTCCACAGCAGCCACAGCCGCCGCCGCCACAACCACAACCAGCACCACA (p.Pro1698=) c.5072_5123delinsCGCCTCCACAGCAGCCACAGCCGCCGCCGCCACAACCACAACCAGCACCACA (p.Pro1691=) c.4979_5030delinsCGCCTCCACAGCAGCCACAGCCGCCGCCGCCACAACCACAACCAGCACCACA (p.Pro1660=) c.3533_3584delinsCGCCTCCACAGCAGCCACAGCCGCCGCCGCCACAACCACAACCAGCACCACA (p.Pro1178=) | |
8 | g.41933209G>A | CA371063850 | KAT6A | c.5011C>T (p.Gln1671Ter) c.5017C>T (p.Gln1673Ter) c.3692C>T c.5143C>T (p.Gln1715Ter) c.5122C>T (p.Gln1708Ter) c.5029C>T (p.Gln1677Ter) c.3583C>T (p.Gln1195Ter) | |
8 | g.41933209G>C | CA371063851 | KAT6A | c.5011C>G (p.Gln1671Glu) c.5017C>G (p.Gln1673Glu) c.3692C>G c.5143C>G (p.Gln1715Glu) c.5122C>G (p.Gln1708Glu) c.5029C>G (p.Gln1677Glu) c.3583C>G (p.Gln1195Glu) | |
8 | g.41933209G>T | CA371063852 | KAT6A | c.5011C>A (p.Gln1671Lys) c.5017C>A (p.Gln1673Lys) c.3692C>A c.5143C>A (p.Gln1715Lys) c.5122C>A (p.Gln1708Lys) c.5029C>A (p.Gln1677Lys) c.3583C>A (p.Gln1195Lys) | |
8 | g.41933215_41933265del | CA1113181407 | KAT6A | c.4961_5011del (p.Pro1654_Pro1670del) c.4967_5017del (p.Pro1656_Pro1672del) c.3642_3692del c.5093_5143del (p.Pro1698_Pro1714del) c.5072_5122del (p.Pro1691_Pro1707del) c.4979_5029del (p.Pro1660_Pro1676del) c.3533_3583del (p.Pro1178_Pro1194del) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.41933210T>A | CA460783647 | KAT6A | c.5010A>T (p.Pro1670=) c.5016A>T (p.Pro1672=) c.3691A>T c.5142A>T (p.Pro1714=) c.5121A>T (p.Pro1707=) c.5028A>T (p.Pro1676=) c.3582A>T (p.Pro1194=) | dbSNP |
8 | g.41933210T>C | CA4729377 | KAT6A | c.5010A>G (p.Pro1670=) c.5016A>G (p.Pro1672=) c.3691A>G c.5142A>G (p.Pro1714=) c.5121A>G (p.Pro1707=) c.5028A>G (p.Pro1676=) c.3582A>G (p.Pro1194=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.41933210T>G | CA460783650 | KAT6A | c.5010A>C (p.Pro1670=) c.5016A>C (p.Pro1672=) c.3691A>C c.5142A>C (p.Pro1714=) c.5121A>C (p.Pro1707=) c.5028A>C (p.Pro1676=) c.3582A>C (p.Pro1194=) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.41933210T= | CA1779195820 | KAT6A | c.5010A= (p.Pro1670=) c.5016A= (p.Pro1672=) c.3691A= c.5142A= (p.Pro1714=) c.5121A= (p.Pro1707=) c.5028A= (p.Pro1676=) c.3582A= (p.Pro1194=) | |
8 | g.41933211G>A | CA4729378 | KAT6A | c.5009C>T (p.Pro1670Leu) c.5015C>T (p.Pro1672Leu) c.3690C>T c.5141C>T (p.Pro1714Leu) c.5120C>T (p.Pro1707Leu) c.5027C>T (p.Pro1676Leu) c.3581C>T (p.Pro1194Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.41933211G>C | CA371063853 | KAT6A | c.5009C>G (p.Pro1670Arg) c.5015C>G (p.Pro1672Arg) c.3690C>G c.5141C>G (p.Pro1714Arg) c.5120C>G (p.Pro1707Arg) c.5027C>G (p.Pro1676Arg) c.3581C>G (p.Pro1194Arg) | |
8 | g.41933211G= | CA1779195821 | KAT6A | c.5009C= (p.Pro1670=) c.5015C= (p.Pro1672=) c.3690C= c.5141C= (p.Pro1714=) c.5120C= (p.Pro1707=) c.5027C= (p.Pro1676=) c.3581C= (p.Pro1194=) | |
8 | g.41933211G>T | CA371063854 | KAT6A | c.5009C>A (p.Pro1670Gln) c.5015C>A (p.Pro1672Gln) c.3690C>A c.5141C>A (p.Pro1714Gln) c.5120C>A (p.Pro1707Gln) c.5027C>A (p.Pro1676Gln) c.3581C>A (p.Pro1194Gln) | ClinVar dbSNP gnomAD v4 |
8 | g.41933212G>A | CA371063855 | KAT6A | c.5008C>T (p.Pro1670Ser) c.5014C>T (p.Pro1672Ser) c.3689C>T c.5140C>T (p.Pro1714Ser) c.5119C>T (p.Pro1707Ser) c.5026C>T (p.Pro1676Ser) c.3580C>T (p.Pro1194Ser) | |
8 | g.41933212G>C | CA371063856 | KAT6A | c.5008C>G (p.Pro1670Ala) c.5014C>G (p.Pro1672Ala) c.3689C>G c.5140C>G (p.Pro1714Ala) c.5119C>G (p.Pro1707Ala) c.5026C>G (p.Pro1676Ala) c.3580C>G (p.Pro1194Ala) | |
8 | g.41933212G>T | CA371063857 | KAT6A | c.5008C>A (p.Pro1670Thr) c.5014C>A (p.Pro1672Thr) c.3689C>A c.5140C>A (p.Pro1714Thr) c.5119C>A (p.Pro1707Thr) c.5026C>A (p.Pro1676Thr) c.3580C>A (p.Pro1194Thr) | gnomAD v4 |
8 | g.41933213T>A | CA460783657 | KAT6A | c.5007A>T (p.Ala1669=) c.5013A>T (p.Ala1671=) c.3688A>T c.5139A>T (p.Ala1713=) c.5118A>T (p.Ala1706=) c.5025A>T (p.Ala1675=) c.3579A>T (p.Ala1193=) | |
8 | g.41933213T>C | CA460783658 | KAT6A | c.5007A>G (p.Ala1669=) c.5013A>G (p.Ala1671=) c.3688A>G c.5139A>G (p.Ala1713=) c.5118A>G (p.Ala1706=) c.5025A>G (p.Ala1675=) c.3579A>G (p.Ala1193=) | |
8 | g.41933213T>G | CA460783659 | KAT6A | c.5007A>C (p.Ala1669=) c.5013A>C (p.Ala1671=) c.3688A>C c.5139A>C (p.Ala1713=) c.5118A>C (p.Ala1706=) c.5025A>C (p.Ala1675=) c.3579A>C (p.Ala1193=) | |
8 | g.41933214G>A | CA371063858 | KAT6A | c.5006C>T (p.Ala1669Val) c.5012C>T (p.Ala1671Val) c.3687C>T c.5138C>T (p.Ala1713Val) c.5117C>T (p.Ala1706Val) c.5024C>T (p.Ala1675Val) c.3578C>T (p.Ala1193Val) | gnomAD v4 |
8 | g.41933214G>C | CA371063859 | KAT6A | c.5006C>G (p.Ala1669Gly) c.5012C>G (p.Ala1671Gly) c.3687C>G c.5138C>G (p.Ala1713Gly) c.5117C>G (p.Ala1706Gly) c.5024C>G (p.Ala1675Gly) c.3578C>G (p.Ala1193Gly) | |
8 | g.41933214G>T | CA371063860 | KAT6A | c.5006C>A (p.Ala1669Glu) c.5012C>A (p.Ala1671Glu) c.3687C>A c.5138C>A (p.Ala1713Glu) c.5117C>A (p.Ala1706Glu) c.5024C>A (p.Ala1675Glu) c.3578C>A (p.Ala1193Glu) | gnomAD v4 |
8 | g.41933215C>A | CA371063861 | KAT6A | c.5005G>T (p.Ala1669Ser) c.5011G>T (p.Ala1671Ser) c.3686G>T c.5137G>T (p.Ala1713Ser) c.5116G>T (p.Ala1706Ser) c.5023G>T (p.Ala1675Ser) c.3577G>T (p.Ala1193Ser) | gnomAD v4 |
8 | g.41933215C>G | CA371063863 | KAT6A | c.5005G>C (p.Ala1669Pro) c.5011G>C (p.Ala1671Pro) c.3686G>C c.5137G>C (p.Ala1713Pro) c.5116G>C (p.Ala1706Pro) c.5023G>C (p.Ala1675Pro) c.3577G>C (p.Ala1193Pro) | |
8 | g.41933215C>T | CA371063862 | KAT6A | c.5005G>A (p.Ala1669Thr) c.5011G>A (p.Ala1671Thr) c.3686G>A c.5137G>A (p.Ala1713Thr) c.5116G>A (p.Ala1706Thr) c.5023G>A (p.Ala1675Thr) c.3577G>A (p.Ala1193Thr) | gnomAD v4 |
8 | g.41933215_41933220dup | CA2687076947 | KAT6A | c.5000_5005dup (p.Pro1668_Ala1669insGluPro) c.5006_5011dup (p.Pro1670_Ala1671insGluPro) c.3681_3686dup c.5132_5137dup (p.Pro1712_Ala1713insGluPro) c.5111_5116dup (p.Pro1705_Ala1706insGluPro) c.5018_5023dup (p.Pro1674_Ala1675insGluPro) c.3572_3577dup (p.Pro1192_Ala1193insGluPro) | gnomAD v4 |
8 | g.41933215_41933221delinsCTGGTTG | CA1779195822 | KAT6A | c.4999_5005delinsCAACCAG (p.Gln1667=) c.5005_5011delinsCAACCAG (p.Gln1669=) c.3680_3686delinsCAACCAG c.5131_5137delinsCAACCAG (p.Gln1711=) c.5110_5116delinsCAACCAG (p.Gln1704=) c.5017_5023delinsCAACCAG (p.Gln1673=) c.3571_3577delinsCAACCAG (p.Gln1191=) | |
8 | g.41933216T>A | CA460783671 | KAT6A | c.5004A>T (p.Pro1668=) c.5010A>T (p.Pro1670=) c.3685A>T c.5136A>T (p.Pro1712=) c.5115A>T (p.Pro1705=) c.5022A>T (p.Pro1674=) c.3576A>T (p.Pro1192=) | |
8 | g.41933216T>C | CA460783672 | KAT6A | c.5004A>G (p.Pro1668=) c.5010A>G (p.Pro1670=) c.3685A>G c.5136A>G (p.Pro1712=) c.5115A>G (p.Pro1705=) c.5022A>G (p.Pro1674=) c.3576A>G (p.Pro1192=) | |
8 | g.41933216T>G | CA460783673 | KAT6A | c.5004A>C (p.Pro1668=) c.5010A>C (p.Pro1670=) c.3685A>C c.5136A>C (p.Pro1712=) c.5115A>C (p.Pro1705=) c.5022A>C (p.Pro1674=) c.3576A>C (p.Pro1192=) | |
8 | g.41933225_41933230dup | CA175938865 | KAT6A | c.4999_5004dup (p.Pro1668_Ala1669insGlnPro) c.5005_5010dup (p.Pro1670_Ala1671insGlnPro) c.3680_3685dup c.5131_5136dup (p.Pro1712_Ala1713insGlnPro) c.5110_5115dup (p.Pro1705_Ala1706insGlnPro) c.5017_5022dup (p.Pro1674_Ala1675insGlnPro) c.3571_3576dup (p.Pro1192_Ala1193insGlnPro) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.41933225_41933230del | CA175938870 | KAT6A | c.4999_5004del (p.Gln1667_Pro1668del) c.5005_5010del (p.Gln1669_Pro1670del) c.3680_3685del c.5131_5136del (p.Gln1711_Pro1712del) c.5110_5115del (p.Gln1704_Pro1705del) c.5017_5022del (p.Gln1673_Pro1674del) c.3571_3576del (p.Gln1191_Pro1192del) | dbSNP gnomAD v4 |
8 | g.41933217G>A | CA371063864 | KAT6A | c.5003C>T (p.Pro1668Leu) c.5009C>T (p.Pro1670Leu) c.3684C>T c.5135C>T (p.Pro1712Leu) c.5114C>T (p.Pro1705Leu) c.5021C>T (p.Pro1674Leu) c.3575C>T (p.Pro1192Leu) | |
8 | g.41933217G>C | CA371063865 | KAT6A | c.5003C>G (p.Pro1668Arg) c.5009C>G (p.Pro1670Arg) c.3684C>G c.5135C>G (p.Pro1712Arg) c.5114C>G (p.Pro1705Arg) c.5021C>G (p.Pro1674Arg) c.3575C>G (p.Pro1192Arg) | |
8 | g.41933217G>T | CA371063866 | KAT6A | c.5003C>A (p.Pro1668Gln) c.5009C>A (p.Pro1670Gln) c.3684C>A c.5135C>A (p.Pro1712Gln) c.5114C>A (p.Pro1705Gln) c.5021C>A (p.Pro1674Gln) c.3575C>A (p.Pro1192Gln) | gnomAD v4 |
8 | g.41933218G>A | CA371063867 | KAT6A | c.5002C>T (p.Pro1668Ser) c.5008C>T (p.Pro1670Ser) c.3683C>T c.5134C>T (p.Pro1712Ser) c.5113C>T (p.Pro1705Ser) c.5020C>T (p.Pro1674Ser) c.3574C>T (p.Pro1192Ser) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.41933218G>C | CA371063868 | KAT6A | c.5002C>G (p.Pro1668Ala) c.5008C>G (p.Pro1670Ala) c.3683C>G c.5134C>G (p.Pro1712Ala) c.5113C>G (p.Pro1705Ala) c.5020C>G (p.Pro1674Ala) c.3574C>G (p.Pro1192Ala) | |
8 | g.41933218G= | CA1779195823 | KAT6A | c.5002C= (p.Pro1668=) c.5008C= (p.Pro1670=) c.3683C= c.5134C= (p.Pro1712=) c.5113C= (p.Pro1705=) c.5020C= (p.Pro1674=) c.3574C= (p.Pro1192=) | |
8 | g.41933218G>T | CA371063869 | KAT6A | c.5002C>A (p.Pro1668Thr) c.5008C>A (p.Pro1670Thr) c.3683C>A c.5134C>A (p.Pro1712Thr) c.5113C>A (p.Pro1705Thr) c.5020C>A (p.Pro1674Thr) c.3574C>A (p.Pro1192Thr) | gnomAD v4 |
8 | g.41933219T>A | CA371063870 | KAT6A | c.5001A>T (p.Gln1667His) c.5007A>T (p.Gln1669His) c.3682A>T c.5133A>T (p.Gln1711His) c.5112A>T (p.Gln1704His) c.5019A>T (p.Gln1673His) c.3573A>T (p.Gln1191His) | |
8 | g.41933219T>C | CA4729379 | KAT6A | c.5001A>G (p.Gln1667=) c.5007A>G (p.Gln1669=) c.3682A>G c.5133A>G (p.Gln1711=) c.5112A>G (p.Gln1704=) c.5019A>G (p.Gln1673=) c.3573A>G (p.Gln1191=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.41933219T>G | CA371063871 | KAT6A | c.5001A>C (p.Gln1667His) c.5007A>C (p.Gln1669His) c.3682A>C c.5133A>C (p.Gln1711His) c.5112A>C (p.Gln1704His) c.5019A>C (p.Gln1673His) c.3573A>C (p.Gln1191His) | |
8 | g.41933219T= | CA1779195824 | KAT6A | c.5001A= (p.Gln1667=) c.5007A= (p.Gln1669=) c.3682A= c.5133A= (p.Gln1711=) c.5112A= (p.Gln1704=) c.5019A= (p.Gln1673=) c.3573A= (p.Gln1191=) | |
8 | g.41933220T>A | CA371063872 | KAT6A | c.5000A>T (p.Gln1667Leu) c.5006A>T (p.Gln1669Leu) c.3681A>T c.5132A>T (p.Gln1711Leu) c.5111A>T (p.Gln1704Leu) c.5018A>T (p.Gln1673Leu) c.3572A>T (p.Gln1191Leu) | |
8 | g.41933220T>C | CA371063874 | KAT6A | c.5000A>G (p.Gln1667Arg) c.5006A>G (p.Gln1669Arg) c.3681A>G c.5132A>G (p.Gln1711Arg) c.5111A>G (p.Gln1704Arg) c.5018A>G (p.Gln1673Arg) c.3572A>G (p.Gln1191Arg) | |
8 | g.41933220T>G | CA371063875 | KAT6A | c.5000A>C (p.Gln1667Pro) c.5006A>C (p.Gln1669Pro) c.3681A>C c.5132A>C (p.Gln1711Pro) c.5111A>C (p.Gln1704Pro) c.5018A>C (p.Gln1673Pro) c.3572A>C (p.Gln1191Pro) | |
8 | g.41933221G>A | CA371063876 | KAT6A | c.4999C>T (p.Gln1667Ter) c.5005C>T (p.Gln1669Ter) c.3680C>T c.5131C>T (p.Gln1711Ter) c.5110C>T (p.Gln1704Ter) c.5017C>T (p.Gln1673Ter) c.3571C>T (p.Gln1191Ter) | |
8 | g.41933221G>C | CA371063878 | KAT6A | c.4999C>G (p.Gln1667Glu) c.5005C>G (p.Gln1669Glu) c.3680C>G c.5131C>G (p.Gln1711Glu) c.5110C>G (p.Gln1704Glu) c.5017C>G (p.Gln1673Glu) c.3571C>G (p.Gln1191Glu) | |
8 | g.41933221G>T | CA371063877 | KAT6A | c.4999C>A (p.Gln1667Lys) c.5005C>A (p.Gln1669Lys) c.3680C>A c.5131C>A (p.Gln1711Lys) c.5110C>A (p.Gln1704Lys) c.5017C>A (p.Gln1673Lys) c.3571C>A (p.Gln1191Lys) | gnomAD v4 |
8 | g.41933222T>A | CA460783685 | KAT6A | c.4998A>T (p.Pro1666=) c.5004A>T (p.Pro1668=) c.3679A>T c.5130A>T (p.Pro1710=) c.5109A>T (p.Pro1703=) c.5016A>T (p.Pro1672=) c.3570A>T (p.Pro1190=) | |
8 | g.41933222T>C | CA460783687 | KAT6A | c.4998A>G (p.Pro1666=) c.5004A>G (p.Pro1668=) c.3679A>G c.5130A>G (p.Pro1710=) c.5109A>G (p.Pro1703=) c.5016A>G (p.Pro1672=) c.3570A>G (p.Pro1190=) | ClinVar |
8 | g.41933222T>G | CA460783689 | KAT6A | c.4998A>C (p.Pro1666=) c.5004A>C (p.Pro1668=) c.3679A>C c.5130A>C (p.Pro1710=) c.5109A>C (p.Pro1703=) c.5016A>C (p.Pro1672=) c.3570A>C (p.Pro1190=) | |
8 | g.41933223G>A | CA371063879 | KAT6A | c.4997C>T (p.Pro1666Leu) c.5003C>T (p.Pro1668Leu) c.3678C>T c.5129C>T (p.Pro1710Leu) c.5108C>T (p.Pro1703Leu) c.5015C>T (p.Pro1672Leu) c.3569C>T (p.Pro1190Leu) | COSMIC |
8 | g.41933223G>C | CA371063880 | KAT6A | c.4997C>G (p.Pro1666Arg) c.5003C>G (p.Pro1668Arg) c.3678C>G c.5129C>G (p.Pro1710Arg) c.5108C>G (p.Pro1703Arg) c.5015C>G (p.Pro1672Arg) c.3569C>G (p.Pro1190Arg) | |
8 | g.41933223G>T | CA371063881 | KAT6A | c.4997C>A (p.Pro1666Gln) c.5003C>A (p.Pro1668Gln) c.3678C>A c.5129C>A (p.Pro1710Gln) c.5108C>A (p.Pro1703Gln) c.5015C>A (p.Pro1672Gln) c.3569C>A (p.Pro1190Gln) | |
8 | g.41933224G>A | CA371063882 | KAT6A | c.4996C>T (p.Pro1666Ser) c.5002C>T (p.Pro1668Ser) c.3677C>T c.5128C>T (p.Pro1710Ser) c.5107C>T (p.Pro1703Ser) c.5014C>T (p.Pro1672Ser) c.3568C>T (p.Pro1190Ser) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.41933224G>C | CA371063883 | KAT6A | c.4996C>G (p.Pro1666Ala) c.5002C>G (p.Pro1668Ala) c.3677C>G c.5128C>G (p.Pro1710Ala) c.5107C>G (p.Pro1703Ala) c.5014C>G (p.Pro1672Ala) c.3568C>G (p.Pro1190Ala) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.41933224G= | CA1779195825 | KAT6A | c.4996C= (p.Pro1666=) c.5002C= (p.Pro1668=) c.3677C= c.5128C= (p.Pro1710=) c.5107C= (p.Pro1703=) c.5014C= (p.Pro1672=) c.3568C= (p.Pro1190=) | |
8 | g.41933224G>T | CA371063884 | KAT6A | c.4996C>A (p.Pro1666Thr) c.5002C>A (p.Pro1668Thr) c.3677C>A c.5128C>A (p.Pro1710Thr) c.5107C>A (p.Pro1703Thr) c.5014C>A (p.Pro1672Thr) c.3568C>A (p.Pro1190Thr) | gnomAD v4 |
8 | g.41933225T>A | CA371063885 | KAT6A | c.4995A>T (p.Gln1665His) c.5001A>T (p.Gln1667His) c.3676A>T c.5127A>T (p.Gln1709His) c.5106A>T (p.Gln1702His) c.5013A>T (p.Gln1671His) c.3567A>T (p.Gln1189His) | |
8 | g.41933225T>C | CA4729380 | KAT6A | c.4995A>G (p.Gln1665=) c.5001A>G (p.Gln1667=) c.3676A>G c.5127A>G (p.Gln1709=) c.5106A>G (p.Gln1702=) c.5013A>G (p.Gln1671=) c.3567A>G (p.Gln1189=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.41933225T>G | CA371063886 | KAT6A | c.4995A>C (p.Gln1665His) c.5001A>C (p.Gln1667His) c.3676A>C c.5127A>C (p.Gln1709His) c.5106A>C (p.Gln1702His) c.5013A>C (p.Gln1671His) c.3567A>C (p.Gln1189His) | |
8 | g.41933225T= | CA1779195826 | KAT6A | c.4995A= (p.Gln1665=) c.5001A= (p.Gln1667=) c.3676A= c.5127A= (p.Gln1709=) c.5106A= (p.Gln1702=) c.5013A= (p.Gln1671=) c.3567A= (p.Gln1189=) | |
8 | g.41933226T>A | CA371063887 | KAT6A | c.4994A>T (p.Gln1665Leu) c.5000A>T (p.Gln1667Leu) c.3675A>T c.5126A>T (p.Gln1709Leu) c.5105A>T (p.Gln1702Leu) c.5012A>T (p.Gln1671Leu) c.3566A>T (p.Gln1189Leu) | |
8 | g.41933226T>C | CA371063888 | KAT6A | c.4994A>G (p.Gln1665Arg) c.5000A>G (p.Gln1667Arg) c.3675A>G c.5126A>G (p.Gln1709Arg) c.5105A>G (p.Gln1702Arg) c.5012A>G (p.Gln1671Arg) c.3566A>G (p.Gln1189Arg) | |
8 | g.41933226T>G | CA371063889 | KAT6A | c.4994A>C (p.Gln1665Pro) c.5000A>C (p.Gln1667Pro) c.3675A>C c.5126A>C (p.Gln1709Pro) c.5105A>C (p.Gln1702Pro) c.5012A>C (p.Gln1671Pro) c.3566A>C (p.Gln1189Pro) | |
8 | g.41933231_41933254dup | CA2740095013 | KAT6A | c.4971_4994dup (p.Gln1665_Pro1666insGlnProGlnProProProProGln) c.4977_5000dup (p.Gln1667_Pro1668insGlnProGlnProProProProGln) c.3652_3675dup c.5103_5126dup (p.Gln1709_Pro1710insGlnProGlnProProProProGln) c.5082_5105dup (p.Gln1702_Pro1703insGlnProGlnProProProProGln) c.4989_5012dup (p.Gln1671_Pro1672insGlnProGlnProProProProGln) c.3543_3566dup (p.Gln1189_Pro1190insGlnProGlnProProProProGln) | ClinVar |
8 | g.41933227G>A | CA371063892 | KAT6A | c.4993C>T (p.Gln1665Ter) c.4999C>T (p.Gln1667Ter) c.3674C>T c.5125C>T (p.Gln1709Ter) c.5104C>T (p.Gln1702Ter) c.5011C>T (p.Gln1671Ter) c.3565C>T (p.Gln1189Ter) | |
8 | g.41933227G>C | CA371063891 | KAT6A | c.4993C>G (p.Gln1665Glu) c.4999C>G (p.Gln1667Glu) c.3674C>G c.5125C>G (p.Gln1709Glu) c.5104C>G (p.Gln1702Glu) c.5011C>G (p.Gln1671Glu) c.3565C>G (p.Gln1189Glu) | |
8 | g.41933227G>T | CA371063890 | KAT6A | c.4993C>A (p.Gln1665Lys) c.4999C>A (p.Gln1667Lys) c.3674C>A c.5125C>A (p.Gln1709Lys) c.5104C>A (p.Gln1702Lys) c.5011C>A (p.Gln1671Lys) c.3565C>A (p.Gln1189Lys) | |
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.41933228T>A | CA460783701 | KAT6A | c.4992A>T (p.Pro1664=) c.4998A>T (p.Pro1666=) c.3673A>T c.5124A>T (p.Pro1708=) c.5103A>T (p.Pro1701=) c.5010A>T (p.Pro1670=) c.3564A>T (p.Pro1188=) | |
8 | g.41933228T>C | CA175938882 | KAT6A | c.4992A>G (p.Pro1664=) c.4998A>G (p.Pro1666=) c.3673A>G c.5124A>G (p.Pro1708=) c.5103A>G (p.Pro1701=) c.5010A>G (p.Pro1670=) c.3564A>G (p.Pro1188=) | dbSNP gnomAD v4 |
8 | g.41933228T>G | CA460783702 | KAT6A | c.4992A>C (p.Pro1664=) c.4998A>C (p.Pro1666=) c.3673A>C c.5124A>C (p.Pro1708=) c.5103A>C (p.Pro1701=) c.5010A>C (p.Pro1670=) c.3564A>C (p.Pro1188=) | |
8 | g.41933228T= | CA1779195828 | KAT6A | c.4992A= (p.Pro1664=) c.4998A= (p.Pro1666=) c.3673A= c.5124A= (p.Pro1708=) c.5103A= (p.Pro1701=) c.5010A= (p.Pro1670=) c.3564A= (p.Pro1188=) | |
8 | g.41933228_41933234delinsTGGCGGC | CA1779195827 | KAT6A | c.4986_4992delinsGCCGCCA (p.Pro1662=) c.4992_4998delinsGCCGCCA (p.Pro1664=) c.3667_3673delinsGCCGCCA c.5118_5124delinsGCCGCCA (p.Pro1706=) c.5097_5103delinsGCCGCCA (p.Pro1699=) c.5004_5010delinsGCCGCCA (p.Pro1668=) c.3558_3564delinsGCCGCCA (p.Pro1186=) | |
8 | g.41933229G>A | CA371063893 | KAT6A | c.4991C>T (p.Pro1664Leu) c.4997C>T (p.Pro1666Leu) c.3672C>T c.5123C>T (p.Pro1708Leu) c.5102C>T (p.Pro1701Leu) c.5009C>T (p.Pro1670Leu) c.3563C>T (p.Pro1188Leu) | |
8 | g.41933229G>C | CA371063894 | KAT6A | c.4991C>G (p.Pro1664Arg) c.4997C>G (p.Pro1666Arg) c.3672C>G c.5123C>G (p.Pro1708Arg) c.5102C>G (p.Pro1701Arg) c.5009C>G (p.Pro1670Arg) c.3563C>G (p.Pro1188Arg) | |
8 | g.41933229G>T | CA371063895 | KAT6A | c.4991C>A (p.Pro1664Gln) c.4997C>A (p.Pro1666Gln) c.3672C>A c.5123C>A (p.Pro1708Gln) c.5102C>A (p.Pro1701Gln) c.5009C>A (p.Pro1670Gln) c.3563C>A (p.Pro1188Gln) | |
8 | g.41933238_41933240dup | CA2687076949 | KAT6A | c.4989_4991dup (p.Pro1664_Gln1665insPro) c.4995_4997dup (p.Pro1666_Gln1667insPro) c.3670_3672dup c.5121_5123dup (p.Pro1708_Gln1709insPro) c.5100_5102dup (p.Pro1701_Gln1702insPro) c.5007_5009dup (p.Pro1670_Gln1671insPro) c.3561_3563dup (p.Pro1188_Gln1189insPro) | gnomAD v4 |
8 | g.41933235_41933240dup | CA2687076950 | KAT6A | c.4986_4991dup (p.Pro1664_Gln1665insProPro) c.4992_4997dup (p.Pro1666_Gln1667insProPro) c.3667_3672dup c.5118_5123dup (p.Pro1708_Gln1709insProPro) c.5097_5102dup (p.Pro1701_Gln1702insProPro) c.5004_5009dup (p.Pro1670_Gln1671insProPro) c.3558_3563dup (p.Pro1188_Gln1189insProPro) | gnomAD v4 |
8 | g.41933232_41933240dup | CA175938886 | KAT6A | c.4983_4991dup (p.Pro1664_Gln1665insProProPro) c.4989_4997dup (p.Pro1666_Gln1667insProProPro) c.3664_3672dup c.5115_5123dup (p.Pro1708_Gln1709insProProPro) c.5094_5102dup (p.Pro1701_Gln1702insProProPro) c.5001_5009dup (p.Pro1670_Gln1671insProProPro) c.3555_3563dup (p.Pro1188_Gln1189insProProPro) | dbSNP gnomAD v4 |
8 | g.41933238_41933240del | CA4729381 | KAT6A | c.4989_4991del (p.Pro1664del) c.4995_4997del (p.Pro1666del) c.3670_3672del c.5121_5123del (p.Pro1708del) c.5100_5102del (p.Pro1701del) c.5007_5009del (p.Pro1670del) c.3561_3563del (p.Pro1188del) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
8 | g.41933235_41933240del | CA581928331 | KAT6A | c.4986_4991del (p.Pro1663_Pro1664del) c.4992_4997del (p.Pro1665_Pro1666del) c.3667_3672del c.5118_5123del (p.Pro1707_Pro1708del) c.5097_5102del (p.Pro1700_Pro1701del) c.5004_5009del (p.Pro1669_Pro1670del) c.3558_3563del (p.Pro1187_Pro1188del) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.41933230G>A | CA371063896 | KAT6A | c.4990C>T (p.Pro1664Ser) c.4996C>T (p.Pro1666Ser) c.3671C>T c.5122C>T (p.Pro1708Ser) c.5101C>T (p.Pro1701Ser) c.5008C>T (p.Pro1670Ser) c.3562C>T (p.Pro1188Ser) | gnomAD v4 |
8 | g.41933230G>C | CA4729382 | KAT6A | c.4990C>G (p.Pro1664Ala) c.4996C>G (p.Pro1666Ala) c.3671C>G c.5122C>G (p.Pro1708Ala) c.5101C>G (p.Pro1701Ala) c.5008C>G (p.Pro1670Ala) c.3562C>G (p.Pro1188Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.41933230G= | CA1779195829 | KAT6A | c.4990C= (p.Pro1664=) c.4996C= (p.Pro1666=) c.3671C= c.5122C= (p.Pro1708=) c.5101C= (p.Pro1701=) c.5008C= (p.Pro1670=) c.3562C= (p.Pro1188=) | |
8 | g.41933230G>T | CA371063897 | KAT6A | c.4990C>A (p.Pro1664Thr) c.4996C>A (p.Pro1666Thr) c.3671C>A c.5122C>A (p.Pro1708Thr) c.5101C>A (p.Pro1701Thr) c.5008C>A (p.Pro1670Thr) c.3562C>A (p.Pro1188Thr) | gnomAD v4 |
8 | g.41933231C>A | CA460783709 | KAT6A | c.4989G>T (p.Pro1663=) c.4995G>T (p.Pro1665=) c.3670G>T c.5121G>T (p.Pro1707=) c.5100G>T (p.Pro1700=) c.5007G>T (p.Pro1669=) c.3561G>T (p.Pro1187=) | gnomAD v4 |
8 | g.41933231C= | CA1779195830 | KAT6A | c.4989G= (p.Pro1663=) c.4995G= (p.Pro1665=) c.3670G= c.5121G= (p.Pro1707=) c.5100G= (p.Pro1700=) c.5007G= (p.Pro1669=) c.3561G= (p.Pro1187=) | |
8 | g.41933231C>G | CA460783713 | KAT6A | c.4989G>C (p.Pro1663=) c.4995G>C (p.Pro1665=) c.3670G>C c.5121G>C (p.Pro1707=) c.5100G>C (p.Pro1700=) c.5007G>C (p.Pro1669=) c.3561G>C (p.Pro1187=) | |
8 | g.41933231C>T | CA4729383 | KAT6A | c.4989G>A (p.Pro1663=) c.4995G>A (p.Pro1665=) c.3670G>A c.5121G>A (p.Pro1707=) c.5100G>A (p.Pro1700=) c.5007G>A (p.Pro1669=) c.3561G>A (p.Pro1187=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.41933231_41933255delinsCGGCGGCGGCTGTGGCTGCTGTGGA | CA1779195831 | KAT6A | c.4965_4989delinsTCCACAGCAGCCACAGCCGCCGCCG (p.Pro1655=) c.4971_4995delinsTCCACAGCAGCCACAGCCGCCGCCG (p.Pro1657=) c.3646_3670delinsTCCACAGCAGCCACAGCCGCCGCCG c.5097_5121delinsTCCACAGCAGCCACAGCCGCCGCCG (p.Pro1699=) c.5076_5100delinsTCCACAGCAGCCACAGCCGCCGCCG (p.Pro1692=) c.4983_5007delinsTCCACAGCAGCCACAGCCGCCGCCG (p.Pro1661=) c.3537_3561delinsTCCACAGCAGCCACAGCCGCCGCCG (p.Pro1179=) | |
8 | g.41933232G>A | CA4729384 | KAT6A | c.4988C>T (p.Pro1663Leu) c.4994C>T (p.Pro1665Leu) c.3669C>T c.5120C>T (p.Pro1707Leu) c.5099C>T (p.Pro1700Leu) c.5006C>T (p.Pro1669Leu) c.3560C>T (p.Pro1187Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.41933232G>C | CA371063898 | KAT6A | c.4988C>G (p.Pro1663Arg) c.4994C>G (p.Pro1665Arg) c.3669C>G c.5120C>G (p.Pro1707Arg) c.5099C>G (p.Pro1700Arg) c.5006C>G (p.Pro1669Arg) c.3560C>G (p.Pro1187Arg) | |
8 | g.41933232G= | CA1779195833 | KAT6A | c.4988C= (p.Pro1663=) c.4994C= (p.Pro1665=) c.3669C= c.5120C= (p.Pro1707=) c.5099C= (p.Pro1700=) c.5006C= (p.Pro1669=) c.3560C= (p.Pro1187=) | |
8 | g.41933232G>T | CA371063899 | KAT6A | c.4988C>A (p.Pro1663Gln) c.4994C>A (p.Pro1665Gln) c.3669C>A c.5120C>A (p.Pro1707Gln) c.5099C>A (p.Pro1700Gln) c.5006C>A (p.Pro1669Gln) c.3560C>A (p.Pro1187Gln) | |
8 | g.41933237_41933260del | CA1779195832 | KAT6A | c.4965_4988del (p.Pro1656_Pro1663del) c.4971_4994del (p.Pro1658_Pro1665del) c.3646_3669del c.5097_5120del (p.Pro1700_Pro1707del) c.5076_5099del (p.Pro1693_Pro1700del) c.4983_5006del (p.Pro1662_Pro1669del) c.3537_3560del (p.Pro1180_Pro1187del) | dbSNP gnomAD v4 |
8 | g.41933233G>A | CA371063900 | KAT6A | c.4987C>T (p.Pro1663Ser) c.4993C>T (p.Pro1665Ser) c.3668C>T c.5119C>T (p.Pro1707Ser) c.5098C>T (p.Pro1700Ser) c.5005C>T (p.Pro1669Ser) c.3559C>T (p.Pro1187Ser) | gnomAD v4 |
8 | g.41933233G>C | CA371063903 | KAT6A | c.4987C>G (p.Pro1663Ala) c.4993C>G (p.Pro1665Ala) c.3668C>G c.5119C>G (p.Pro1707Ala) c.5098C>G (p.Pro1700Ala) c.5005C>G (p.Pro1669Ala) c.3559C>G (p.Pro1187Ala) | |
8 | g.41933233G>T | CA371063901 | KAT6A | c.4987C>A (p.Pro1663Thr) c.4993C>A (p.Pro1665Thr) c.3668C>A c.5119C>A (p.Pro1707Thr) c.5098C>A (p.Pro1700Thr) c.5005C>A (p.Pro1669Thr) c.3559C>A (p.Pro1187Thr) | gnomAD v4 |
8 | g.41933235_41933249dup | CA581928332 | KAT6A | c.4973_4987dup (p.Pro1662_Pro1663insGlnProGlnProPro) c.4979_4993dup (p.Pro1664_Pro1665insGlnProGlnProPro) c.3654_3668dup c.5105_5119dup (p.Pro1706_Pro1707insGlnProGlnProPro) c.5084_5098dup (p.Pro1699_Pro1700insGlnProGlnProPro) c.4991_5005dup (p.Pro1668_Pro1669insGlnProGlnProPro) c.3545_3559dup (p.Pro1186_Pro1187insGlnProGlnProPro) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.41933234C>A | CA460783719 | KAT6A | c.4986G>T (p.Pro1662=) c.4992G>T (p.Pro1664=) c.3667G>T c.5118G>T (p.Pro1706=) c.5097G>T (p.Pro1699=) c.5004G>T (p.Pro1668=) c.3558G>T (p.Pro1186=) | |
8 | g.41933234C= | CA1779195834 | KAT6A | c.4986G= (p.Pro1662=) c.4992G= (p.Pro1664=) c.3667G= c.5118G= (p.Pro1706=) c.5097G= (p.Pro1699=) c.5004G= (p.Pro1668=) c.3558G= (p.Pro1186=) | |
8 | g.41933234C>G | CA4729385 | KAT6A | c.4986G>C (p.Pro1662=) c.4992G>C (p.Pro1664=) c.3667G>C c.5118G>C (p.Pro1706=) c.5097G>C (p.Pro1699=) c.5004G>C (p.Pro1668=) c.3558G>C (p.Pro1186=) | dbSNP ExAC gnomAD v2 |
8 | g.41933234C>T | CA4729386 | KAT6A | c.4986G>A (p.Pro1662=) c.4992G>A (p.Pro1664=) c.3667G>A c.5118G>A (p.Pro1706=) c.5097G>A (p.Pro1699=) c.5004G>A (p.Pro1668=) c.3558G>A (p.Pro1186=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.41933234_41933255delinsCGGCGGCTGTGGCTGCTGTGGA | CA1779195835 | KAT6A | c.4965_4986delinsTCCACAGCAGCCACAGCCGCCG (p.Pro1655=) c.4971_4992delinsTCCACAGCAGCCACAGCCGCCG (p.Pro1657=) c.3646_3667delinsTCCACAGCAGCCACAGCCGCCG c.5097_5118delinsTCCACAGCAGCCACAGCCGCCG (p.Pro1699=) c.5076_5097delinsTCCACAGCAGCCACAGCCGCCG (p.Pro1692=) c.4983_5004delinsTCCACAGCAGCCACAGCCGCCG (p.Pro1661=) c.3537_3558delinsTCCACAGCAGCCACAGCCGCCG (p.Pro1179=) | |
8 | g.41933235G>A | CA4729387 | KAT6A | c.4985C>T (p.Pro1662Leu) c.4991C>T (p.Pro1664Leu) c.3666C>T c.5117C>T (p.Pro1706Leu) c.5096C>T (p.Pro1699Leu) c.5003C>T (p.Pro1668Leu) c.3557C>T (p.Pro1186Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
8 | g.41933235G>C | CA371063911 | KAT6A | c.4985C>G (p.Pro1662Arg) c.4991C>G (p.Pro1664Arg) c.3666C>G c.5117C>G (p.Pro1706Arg) c.5096C>G (p.Pro1699Arg) c.5003C>G (p.Pro1668Arg) c.3557C>G (p.Pro1186Arg) | |
8 | g.41933235G= | CA1779195836 | KAT6A | c.4985C= (p.Pro1662=) c.4991C= (p.Pro1664=) c.3666C= c.5117C= (p.Pro1706=) c.5096C= (p.Pro1699=) c.5003C= (p.Pro1668=) c.3557C= (p.Pro1186=) | |
8 | g.41933235G>T | CA4729388 | KAT6A | c.4985C>A (p.Pro1662Gln) c.4991C>A (p.Pro1664Gln) c.3666C>A c.5117C>A (p.Pro1706Gln) c.5096C>A (p.Pro1699Gln) c.5003C>A (p.Pro1668Gln) c.3557C>A (p.Pro1186Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.41933238_41933246dup | CA915945664 | KAT6A | c.4977_4985dup (p.Pro1662_Pro1663insGlnProPro) c.4983_4991dup (p.Pro1664_Pro1665insGlnProPro) c.3658_3666dup c.5109_5117dup (p.Pro1706_Pro1707insGlnProPro) c.5088_5096dup (p.Pro1699_Pro1700insGlnProPro) c.4995_5003dup (p.Pro1668_Pro1669insGlnProPro) c.3549_3557dup (p.Pro1186_Pro1187insGlnProPro) | ClinVar dbSNP |
8 | g.41933240_41933260del | CA581928333 | KAT6A | c.4965_4985del (p.Pro1656_Pro1662del) c.4971_4991del (p.Pro1658_Pro1664del) c.3646_3666del c.5097_5117del (p.Pro1700_Pro1706del) c.5076_5096del (p.Pro1693_Pro1699del) c.4983_5003del (p.Pro1662_Pro1668del) c.3537_3557del (p.Pro1180_Pro1186del) | dbSNP gnomAD v2 |
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.41933236G>A | CA371063915 | KAT6A | c.4984C>T (p.Pro1662Ser) c.4990C>T (p.Pro1664Ser) c.3665C>T c.5116C>T (p.Pro1706Ser) c.5095C>T (p.Pro1699Ser) c.5002C>T (p.Pro1668Ser) c.3556C>T (p.Pro1186Ser) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
8 | g.41933236G>C | CA371063916 | KAT6A | c.4984C>G (p.Pro1662Ala) c.4990C>G (p.Pro1664Ala) c.3665C>G c.5116C>G (p.Pro1706Ala) c.5095C>G (p.Pro1699Ala) c.5002C>G (p.Pro1668Ala) c.3556C>G (p.Pro1186Ala) | |
8 | g.41933236G= | CA1779195837 | KAT6A | c.4984C= (p.Pro1662=) c.4990C= (p.Pro1664=) c.3665C= c.5116C= (p.Pro1706=) c.5095C= (p.Pro1699=) c.5002C= (p.Pro1668=) c.3556C= (p.Pro1186=) | |
8 | g.41933236G>T | CA371063919 | KAT6A | c.4984C>A (p.Pro1662Thr) c.4990C>A (p.Pro1664Thr) c.3665C>A c.5116C>A (p.Pro1706Thr) c.5095C>A (p.Pro1699Thr) c.5002C>A (p.Pro1668Thr) c.3556C>A (p.Pro1186Thr) | gnomAD v4 |
8 | g.41933237C>A | CA460783727 | KAT6A | c.4983G>T (p.Pro1661=) c.4989G>T (p.Pro1663=) c.3664G>T c.5115G>T (p.Pro1705=) c.5094G>T (p.Pro1698=) c.5001G>T (p.Pro1667=) c.3555G>T (p.Pro1185=) | gnomAD v4 COSMIC |
8 | g.41933237C= | CA1779195838 | KAT6A | c.4983G= (p.Pro1661=) c.4989G= (p.Pro1663=) c.3664G= c.5115G= (p.Pro1705=) c.5094G= (p.Pro1698=) c.5001G= (p.Pro1667=) c.3555G= (p.Pro1185=) | |
8 | g.41933237C>G | CA4729390 | KAT6A | c.4983G>C (p.Pro1661=) c.4989G>C (p.Pro1663=) c.3664G>C c.5115G>C (p.Pro1705=) c.5094G>C (p.Pro1698=) c.5001G>C (p.Pro1667=) c.3555G>C (p.Pro1185=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.41933237C>T | CA460783730 | KAT6A | c.4983G>A (p.Pro1661=) c.4989G>A (p.Pro1663=) c.3664G>A c.5115G>A (p.Pro1705=) c.5094G>A (p.Pro1698=) c.5001G>A (p.Pro1667=) c.3555G>A (p.Pro1185=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.41933238G>A | CA4729391 | KAT6A | c.4982C>T (p.Pro1661Leu) c.4988C>T (p.Pro1663Leu) c.3663C>T c.5114C>T (p.Pro1705Leu) c.5093C>T (p.Pro1698Leu) c.5000C>T (p.Pro1667Leu) c.3554C>T (p.Pro1185Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.41933238G>C | CA371063927 | KAT6A | c.4982C>G (p.Pro1661Arg) c.4988C>G (p.Pro1663Arg) c.3663C>G c.5114C>G (p.Pro1705Arg) c.5093C>G (p.Pro1698Arg) c.5000C>G (p.Pro1667Arg) c.3554C>G (p.Pro1185Arg) | |
8 | g.41933238G= | CA1779195839 | KAT6A | c.4982C= (p.Pro1661=) c.4988C= (p.Pro1663=) c.3663C= c.5114C= (p.Pro1705=) c.5093C= (p.Pro1698=) c.5000C= (p.Pro1667=) c.3554C= (p.Pro1185=) | |
8 | g.41933238G>T | CA371063929 | KAT6A | c.4982C>A (p.Pro1661Gln) c.4988C>A (p.Pro1663Gln) c.3663C>A c.5114C>A (p.Pro1705Gln) c.5093C>A (p.Pro1698Gln) c.5000C>A (p.Pro1667Gln) c.3554C>A (p.Pro1185Gln) | gnomAD v4 |
8 | g.41933243_41933248dup | CA2687076953 | KAT6A | c.4977_4982dup (p.Pro1661_Pro1662insGlnPro) c.4983_4988dup (p.Pro1663_Pro1664insGlnPro) c.3658_3663dup c.5109_5114dup (p.Pro1705_Pro1706insGlnPro) c.5088_5093dup (p.Pro1698_Pro1699insGlnPro) c.4995_5000dup (p.Pro1667_Pro1668insGlnPro) c.3549_3554dup (p.Pro1185_Pro1186insGlnPro) | gnomAD v4 |
8 | g.41933240_41933254dup | CA4729389 | KAT6A | c.4968_4982dup (p.Pro1661_Pro1662insGlnGlnProGlnPro) c.4974_4988dup (p.Pro1663_Pro1664insGlnGlnProGlnPro) c.3649_3663dup c.5100_5114dup (p.Pro1705_Pro1706insGlnGlnProGlnPro) c.5079_5093dup (p.Pro1698_Pro1699insGlnGlnProGlnPro) c.4986_5000dup (p.Pro1667_Pro1668insGlnGlnProGlnPro) c.3540_3554dup (p.Pro1185_Pro1186insGlnGlnProGlnPro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.41933239G>A | CA371063937 | KAT6A | c.4981C>T (p.Pro1661Ser) c.4987C>T (p.Pro1663Ser) c.3662C>T c.5113C>T (p.Pro1705Ser) c.5092C>T (p.Pro1698Ser) c.4999C>T (p.Pro1667Ser) c.3553C>T (p.Pro1185Ser) | gnomAD v4 |
8 | g.41933239G>C | CA371063932 | KAT6A | c.4981C>G (p.Pro1661Ala) c.4987C>G (p.Pro1663Ala) c.3662C>G c.5113C>G (p.Pro1705Ala) c.5092C>G (p.Pro1698Ala) c.4999C>G (p.Pro1667Ala) c.3553C>G (p.Pro1185Ala) | |
8 | g.41933239G>T | CA371063935 | KAT6A | c.4981C>A (p.Pro1661Thr) c.4987C>A (p.Pro1663Thr) c.3662C>A c.5113C>A (p.Pro1705Thr) c.5092C>A (p.Pro1698Thr) c.4999C>A (p.Pro1667Thr) c.3553C>A (p.Pro1185Thr) | gnomAD v4 |
8 | g.41933240_41933242del | CA2687076954 | KAT6A | c.4979_4981del (p.Gln1660del) c.4985_4987del (p.Gln1662del) c.3660_3662del c.5111_5113del (p.Gln1704del) c.5090_5092del (p.Gln1697del) c.4997_4999del (p.Gln1666del) c.3551_3553del (p.Gln1184del) | gnomAD v4 |
8 | g.41933246_41933254dup | CA4729392 | KAT6A | c.4973_4981dup (p.Gln1660_Pro1661insGlnProGln) c.4979_4987dup (p.Gln1662_Pro1663insGlnProGln) c.3654_3662dup c.5105_5113dup (p.Gln1704_Pro1705insGlnProGln) c.5084_5092dup (p.Gln1697_Pro1698insGlnProGln) c.4991_4999dup (p.Gln1666_Pro1667insGlnProGln) c.3545_3553dup (p.Gln1184_Pro1185insGlnProGln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.41933246_41933254del | CA2687076955 | KAT6A | c.4973_4981del (p.Gln1658_Gln1660del) c.4979_4987del (p.Gln1660_Gln1662del) c.3654_3662del c.5105_5113del (p.Gln1702_Gln1704del) c.5084_5092del (p.Gln1695_Gln1697del) c.4991_4999del (p.Gln1664_Gln1666del) c.3545_3553del (p.Gln1182_Gln1184del) | gnomAD v4 |
8 | g.41933240del | CA2740095014 | KAT6A | c.4980del (p.Gln1660HisfsTer?) c.4986del (p.Gln1662HisfsTer?) c.3661del c.5112del (p.Gln1704HisfsTer?) c.5091del (p.Gln1697HisfsTer?) c.4998del (p.Gln1666HisfsTer?) c.3552del (p.Gln1184HisfsTer?) | ClinVar |
8 | g.41933240C>A | CA371063941 | KAT6A | c.4980G>T (p.Gln1660His) c.4986G>T (p.Gln1662His) c.3661G>T c.5112G>T (p.Gln1704His) c.5091G>T (p.Gln1697His) c.4998G>T (p.Gln1666His) c.3552G>T (p.Gln1184His) | gnomAD v4 |
8 | g.41933240C>G | CA371063943 | KAT6A | c.4980G>C (p.Gln1660His) c.4986G>C (p.Gln1662His) c.3661G>C c.5112G>C (p.Gln1704His) c.5091G>C (p.Gln1697His) c.4998G>C (p.Gln1666His) c.3552G>C (p.Gln1184His) | dbSNP |
8 | g.41933240C>T | CA460783737 | KAT6A | c.4980G>A (p.Gln1660=) c.4986G>A (p.Gln1662=) c.3661G>A c.5112G>A (p.Gln1704=) c.5091G>A (p.Gln1697=) c.4998G>A (p.Gln1666=) c.3552G>A (p.Gln1184=) | gnomAD v4 |
8 | g.41933240_41933261delinsCTGTGGCTGCTGTGGAGGCGGT | CA1779195840 | KAT6A | c.4959_4980delinsACCGCCTCCACAGCAGCCACAG (p.Pro1653=) c.4965_4986delinsACCGCCTCCACAGCAGCCACAG (p.Pro1655=) c.3640_3661delinsACCGCCTCCACAGCAGCCACAG c.5091_5112delinsACCGCCTCCACAGCAGCCACAG (p.Pro1697=) c.5070_5091delinsACCGCCTCCACAGCAGCCACAG (p.Pro1690=) c.4977_4998delinsACCGCCTCCACAGCAGCCACAG (p.Pro1659=) c.3531_3552delinsACCGCCTCCACAGCAGCCACAG (p.Pro1177=) | |
8 | g.41933241T>A | CA371063945 | KAT6A | c.4979A>T (p.Gln1660Leu) c.4985A>T (p.Gln1662Leu) c.3660A>T c.5111A>T (p.Gln1704Leu) c.5090A>T (p.Gln1697Leu) c.4997A>T (p.Gln1666Leu) c.3551A>T (p.Gln1184Leu) | ClinVar gnomAD v4 |
8 | g.41933241T>C | CA371063947 | KAT6A | c.4979A>G (p.Gln1660Arg) c.4985A>G (p.Gln1662Arg) c.3660A>G c.5111A>G (p.Gln1704Arg) c.5090A>G (p.Gln1697Arg) c.4997A>G (p.Gln1666Arg) c.3551A>G (p.Gln1184Arg) | gnomAD v4 |
8 | g.41933241T>G | CA371063949 | KAT6A | c.4979A>C (p.Gln1660Pro) c.4985A>C (p.Gln1662Pro) c.3660A>C c.5111A>C (p.Gln1704Pro) c.5090A>C (p.Gln1697Pro) c.4997A>C (p.Gln1666Pro) c.3551A>C (p.Gln1184Pro) | |
8 | g.41933241_41933261del | CA1779195841 | KAT6A | c.4959_4979del (p.Pro1654_Gln1660del) c.4965_4985del (p.Pro1656_Gln1662del) c.3640_3660del c.5091_5111del (p.Pro1698_Gln1704del) c.5070_5090del (p.Pro1691_Gln1697del) c.4977_4997del (p.Pro1660_Gln1666del) c.3531_3551del (p.Pro1178_Gln1184del) | dbSNP |
8 | g.41933242G>A | CA371063952 | KAT6A | c.4978C>T (p.Gln1660Ter) c.4984C>T (p.Gln1662Ter) c.3659C>T c.5110C>T (p.Gln1704Ter) c.5089C>T (p.Gln1697Ter) c.4996C>T (p.Gln1666Ter) c.3550C>T (p.Gln1184Ter) | gnomAD v4 |
8 | g.41933242G>C | CA371063954 | KAT6A | c.4978C>G (p.Gln1660Glu) c.4984C>G (p.Gln1662Glu) c.3659C>G c.5110C>G (p.Gln1704Glu) c.5089C>G (p.Gln1697Glu) c.4996C>G (p.Gln1666Glu) c.3550C>G (p.Gln1184Glu) | |
8 | g.41933242G>T | CA371063956 | KAT6A | c.4978C>A (p.Gln1660Lys) c.4984C>A (p.Gln1662Lys) c.3659C>A c.5110C>A (p.Gln1704Lys) c.5089C>A (p.Gln1697Lys) c.4996C>A (p.Gln1666Lys) c.3550C>A (p.Gln1184Lys) | gnomAD v4 |
8 | g.41933243T>A | CA460783743 | KAT6A | c.4977A>T (p.Pro1659=) c.4983A>T (p.Pro1661=) c.3658A>T c.5109A>T (p.Pro1703=) c.5088A>T (p.Pro1696=) c.4995A>T (p.Pro1665=) c.3549A>T (p.Pro1183=) | |
8 | g.41933243T>C | CA175938944 | KAT6A | c.4977A>G (p.Pro1659=) c.4983A>G (p.Pro1661=) c.3658A>G c.5109A>G (p.Pro1703=) c.5088A>G (p.Pro1696=) c.4995A>G (p.Pro1665=) c.3549A>G (p.Pro1183=) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.41933243T>G | CA460783745 | KAT6A | c.4977A>C (p.Pro1659=) c.4983A>C (p.Pro1661=) c.3658A>C c.5109A>C (p.Pro1703=) c.5088A>C (p.Pro1696=) c.4995A>C (p.Pro1665=) c.3549A>C (p.Pro1183=) | |
8 | g.41933243T= | CA1779195843 | KAT6A | c.4977A= (p.Pro1659=) c.4983A= (p.Pro1661=) c.3658A= c.5109A= (p.Pro1703=) c.5088A= (p.Pro1696=) c.4995A= (p.Pro1665=) c.3549A= (p.Pro1183=) | |
8 | g.41933243_41933267delinsTGGCTGCTGTGGAGGCGGTGGTGGC | CA1779195842 | KAT6A | c.4953_4977delinsGCCACCACCGCCTCCACAGCAGCCA (p.Pro1651=) c.4959_4983delinsGCCACCACCGCCTCCACAGCAGCCA (p.Pro1653=) c.3634_3658delinsGCCACCACCGCCTCCACAGCAGCCA c.5085_5109delinsGCCACCACCGCCTCCACAGCAGCCA (p.Pro1695=) c.5064_5088delinsGCCACCACCGCCTCCACAGCAGCCA (p.Pro1688=) c.4971_4995delinsGCCACCACCGCCTCCACAGCAGCCA (p.Pro1657=) c.3525_3549delinsGCCACCACCGCCTCCACAGCAGCCA (p.Pro1175=) | |
8 | g.41933244G>A | CA371063961 | KAT6A | c.4976C>T (p.Pro1659Leu) c.4982C>T (p.Pro1661Leu) c.3657C>T c.5108C>T (p.Pro1703Leu) c.5087C>T (p.Pro1696Leu) c.4994C>T (p.Pro1665Leu) c.3548C>T (p.Pro1183Leu) | |
8 | g.41933244G>C | CA371063962 | KAT6A | c.4976C>G (p.Pro1659Arg) c.4982C>G (p.Pro1661Arg) c.3657C>G c.5108C>G (p.Pro1703Arg) c.5087C>G (p.Pro1696Arg) c.4994C>G (p.Pro1665Arg) c.3548C>G (p.Pro1183Arg) | |
8 | g.41933244G>T | CA371063963 | KAT6A | c.4976C>A (p.Pro1659Gln) c.4982C>A (p.Pro1661Gln) c.3657C>A c.5108C>A (p.Pro1703Gln) c.5087C>A (p.Pro1696Gln) c.4994C>A (p.Pro1665Gln) c.3548C>A (p.Pro1183Gln) | 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.41933245G>A | CA371063969 | KAT6A | c.4975C>T (p.Pro1659Ser) c.4981C>T (p.Pro1661Ser) c.3656C>T c.5107C>T (p.Pro1703Ser) c.5086C>T (p.Pro1696Ser) c.4993C>T (p.Pro1665Ser) c.3547C>T (p.Pro1183Ser) | gnomAD v4 |
8 | g.41933245G>C | CA371063970 | KAT6A | c.4975C>G (p.Pro1659Ala) c.4981C>G (p.Pro1661Ala) c.3656C>G c.5107C>G (p.Pro1703Ala) c.5086C>G (p.Pro1696Ala) c.4993C>G (p.Pro1665Ala) c.3547C>G (p.Pro1183Ala) | |
8 | g.41933245G>T | CA371063973 | KAT6A | c.4975C>A (p.Pro1659Thr) c.4981C>A (p.Pro1661Thr) c.3656C>A c.5107C>A (p.Pro1703Thr) c.5086C>A (p.Pro1696Thr) c.4993C>A (p.Pro1665Thr) c.3547C>A (p.Pro1183Thr) | gnomAD v4 |
8 | g.41933246C>A | CA371063975 | KAT6A | c.4974G>T (p.Gln1658His) c.4980G>T (p.Gln1660His) c.3655G>T c.5106G>T (p.Gln1702His) c.5085G>T (p.Gln1695His) c.4992G>T (p.Gln1664His) c.3546G>T (p.Gln1182His) | |
8 | g.41933246C= | CA1779195844 | KAT6A | c.4974G= (p.Gln1658=) c.4980G= (p.Gln1660=) c.3655G= c.5106G= (p.Gln1702=) c.5085G= (p.Gln1695=) c.4992G= (p.Gln1664=) c.3546G= (p.Gln1182=) | |
8 | g.41933246C>G | CA371063978 | KAT6A | c.4974G>C (p.Gln1658His) c.4980G>C (p.Gln1660His) c.3655G>C c.5106G>C (p.Gln1702His) c.5085G>C (p.Gln1695His) c.4992G>C (p.Gln1664His) c.3546G>C (p.Gln1182His) | |
8 | g.41933246C>T | CA4729394 | KAT6A | c.4974G>A (p.Gln1658=) c.4980G>A (p.Gln1660=) c.3655G>A c.5106G>A (p.Gln1702=) c.5085G>A (p.Gln1695=) c.4992G>A (p.Gln1664=) c.3546G>A (p.Gln1182=) | dbSNP ExAC gnomAD v2 |
8 | g.41933247T>A | CA371063984 | KAT6A | c.4973A>T (p.Gln1658Leu) c.4979A>T (p.Gln1660Leu) c.3654A>T c.5105A>T (p.Gln1702Leu) c.5084A>T (p.Gln1695Leu) c.4991A>T (p.Gln1664Leu) c.3545A>T (p.Gln1182Leu) | |
8 | g.41933247T>C | CA371063987 | KAT6A | c.4973A>G (p.Gln1658Arg) c.4979A>G (p.Gln1660Arg) c.3654A>G c.5105A>G (p.Gln1702Arg) c.5084A>G (p.Gln1695Arg) c.4991A>G (p.Gln1664Arg) c.3545A>G (p.Gln1182Arg) | gnomAD v4 |
8 | g.41933247T>G | CA371063989 | KAT6A | c.4973A>C (p.Gln1658Pro) c.4979A>C (p.Gln1660Pro) c.3654A>C c.5105A>C (p.Gln1702Pro) c.5084A>C (p.Gln1695Pro) c.4991A>C (p.Gln1664Pro) c.3545A>C (p.Gln1182Pro) | dbSNP |
8 | g.41933247T= | CA1779195845 | KAT6A | c.4973A= (p.Gln1658=) c.4979A= (p.Gln1660=) c.3654A= c.5105A= (p.Gln1702=) c.5084A= (p.Gln1695=) c.4991A= (p.Gln1664=) c.3545A= (p.Gln1182=) | |
8 | g.41933248G>A | CA371063991 | KAT6A | c.4972C>T (p.Gln1658Ter) c.4978C>T (p.Gln1660Ter) c.3653C>T c.5104C>T (p.Gln1702Ter) c.5083C>T (p.Gln1695Ter) c.4990C>T (p.Gln1664Ter) c.3544C>T (p.Gln1182Ter) | gnomAD v4 |
8 | g.41933248G>C | CA371063993 | KAT6A | c.4972C>G (p.Gln1658Glu) c.4978C>G (p.Gln1660Glu) c.3653C>G c.5104C>G (p.Gln1702Glu) c.5083C>G (p.Gln1695Glu) c.4990C>G (p.Gln1664Glu) c.3544C>G (p.Gln1182Glu) | |
8 | g.41933248G>T | CA371063996 | KAT6A | c.4972C>A (p.Gln1658Lys) c.4978C>A (p.Gln1660Lys) c.3653C>A c.5104C>A (p.Gln1702Lys) c.5083C>A (p.Gln1695Lys) c.4990C>A (p.Gln1664Lys) c.3544C>A (p.Gln1182Lys) | gnomAD v4 |
8 | g.41933249C>A | CA371063998 | KAT6A | c.4971G>T (p.Gln1657His) c.4977G>T (p.Gln1659His) c.3652G>T c.5103G>T (p.Gln1701His) c.5082G>T (p.Gln1694His) c.4989G>T (p.Gln1663His) c.3543G>T (p.Gln1181His) | gnomAD v4 |
8 | g.41933249C>G | CA371064000 | KAT6A | c.4971G>C (p.Gln1657His) c.4977G>C (p.Gln1659His) c.3652G>C c.5103G>C (p.Gln1701His) c.5082G>C (p.Gln1694His) c.4989G>C (p.Gln1663His) c.3543G>C (p.Gln1181His) | |
8 | g.41933249C>T | CA460783361 | KAT6A | c.4971G>A (p.Gln1657=) c.4977G>A (p.Gln1659=) c.3652G>A c.5103G>A (p.Gln1701=) c.5082G>A (p.Gln1694=) c.4989G>A (p.Gln1663=) c.3543G>A (p.Gln1181=) | gnomAD v4 |
8 | g.41933250T>A | CA371064007 | KAT6A | c.4970A>T (p.Gln1657Leu) c.4976A>T (p.Gln1659Leu) c.3651A>T c.5102A>T (p.Gln1701Leu) c.5081A>T (p.Gln1694Leu) c.4988A>T (p.Gln1663Leu) c.3542A>T (p.Gln1181Leu) | |
8 | g.41933250T>C | CA371064003 | KAT6A | c.4970A>G (p.Gln1657Arg) c.4976A>G (p.Gln1659Arg) c.3651A>G c.5102A>G (p.Gln1701Arg) c.5081A>G (p.Gln1694Arg) c.4988A>G (p.Gln1663Arg) c.3542A>G (p.Gln1181Arg) | gnomAD v4 |
8 | g.41933250T>G | CA371064005 | KAT6A | c.4970A>C (p.Gln1657Pro) c.4976A>C (p.Gln1659Pro) c.3651A>C c.5102A>C (p.Gln1701Pro) c.5081A>C (p.Gln1694Pro) c.4988A>C (p.Gln1663Pro) c.3542A>C (p.Gln1181Pro) | |
8 | g.41933251G>A | CA371064009 | KAT6A | c.4969C>T (p.Gln1657Ter) c.4975C>T (p.Gln1659Ter) c.3650C>T c.5101C>T (p.Gln1701Ter) c.5080C>T (p.Gln1694Ter) c.4987C>T (p.Gln1663Ter) c.3541C>T (p.Gln1181Ter) | gnomAD v4 |
8 | g.41933251G>C | CA371064010 | KAT6A | c.4969C>G (p.Gln1657Glu) c.4975C>G (p.Gln1659Glu) c.3650C>G c.5101C>G (p.Gln1701Glu) c.5080C>G (p.Gln1694Glu) c.4987C>G (p.Gln1663Glu) c.3541C>G (p.Gln1181Glu) | gnomAD v4 |
8 | g.41933251G>T | CA371064013 | KAT6A | c.4969C>A (p.Gln1657Lys) c.4975C>A (p.Gln1659Lys) c.3650C>A c.5101C>A (p.Gln1701Lys) c.5080C>A (p.Gln1694Lys) c.4987C>A (p.Gln1663Lys) c.3541C>A (p.Gln1181Lys) | gnomAD v4 |
8 | g.41933252T>A | CA460783366 | KAT6A | c.4968A>T (p.Pro1656=) c.4974A>T (p.Pro1658=) c.3649A>T c.5100A>T (p.Pro1700=) c.5079A>T (p.Pro1693=) c.4986A>T (p.Pro1662=) c.3540A>T (p.Pro1180=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.41933252T>C | CA460783369 | KAT6A | c.4968A>G (p.Pro1656=) c.4974A>G (p.Pro1658=) c.3649A>G c.5100A>G (p.Pro1700=) c.5079A>G (p.Pro1693=) c.4986A>G (p.Pro1662=) c.3540A>G (p.Pro1180=) | dbSNP gnomAD v4 |
8 | g.41933252T>G | CA460783370 | KAT6A | c.4968A>C (p.Pro1656=) c.4974A>C (p.Pro1658=) c.3649A>C c.5100A>C (p.Pro1700=) c.5079A>C (p.Pro1693=) c.4986A>C (p.Pro1662=) c.3540A>C (p.Pro1180=) | |
8 | g.41933252T= | CA1779195846 | KAT6A | c.4968A= (p.Pro1656=) c.4974A= (p.Pro1658=) c.3649A= c.5100A= (p.Pro1700=) c.5079A= (p.Pro1693=) c.4986A= (p.Pro1662=) c.3540A= (p.Pro1180=) | |
8 | g.41933253G>A | CA371064016 | KAT6A | c.4967C>T (p.Pro1656Leu) c.4973C>T (p.Pro1658Leu) c.3648C>T c.5099C>T (p.Pro1700Leu) c.5078C>T (p.Pro1693Leu) c.4985C>T (p.Pro1662Leu) c.3539C>T (p.Pro1180Leu) | |
8 | g.41933253G>C | CA371064018 | KAT6A | c.4967C>G (p.Pro1656Arg) c.4973C>G (p.Pro1658Arg) c.3648C>G c.5099C>G (p.Pro1700Arg) c.5078C>G (p.Pro1693Arg) c.4985C>G (p.Pro1662Arg) c.3539C>G (p.Pro1180Arg) | |
8 | g.41933253G>T | CA371064021 | KAT6A | c.4967C>A (p.Pro1656Gln) c.4973C>A (p.Pro1658Gln) c.3648C>A c.5099C>A (p.Pro1700Gln) c.5078C>A (p.Pro1693Gln) c.4985C>A (p.Pro1662Gln) c.3539C>A (p.Pro1180Gln) | dbSNP gnomAD v4 |
8 | g.41933254G>A | CA4729395 | KAT6A | c.4966C>T (p.Pro1656Ser) c.4972C>T (p.Pro1658Ser) c.3647C>T c.5098C>T (p.Pro1700Ser) c.5077C>T (p.Pro1693Ser) c.4984C>T (p.Pro1662Ser) c.3538C>T (p.Pro1180Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.41933254G>C | CA371064025 | KAT6A | c.4966C>G (p.Pro1656Ala) c.4972C>G (p.Pro1658Ala) c.3647C>G c.5098C>G (p.Pro1700Ala) c.5077C>G (p.Pro1693Ala) c.4984C>G (p.Pro1662Ala) c.3538C>G (p.Pro1180Ala) | |
8 | g.41933254G= | CA1779195847 | KAT6A | c.4966C= (p.Pro1656=) c.4972C= (p.Pro1658=) c.3647C= c.5098C= (p.Pro1700=) c.5077C= (p.Pro1693=) c.4984C= (p.Pro1662=) c.3538C= (p.Pro1180=) | |
8 | g.41933254G>T | CA371064027 | KAT6A | c.4966C>A (p.Pro1656Thr) c.4972C>A (p.Pro1658Thr) c.3647C>A c.5098C>A (p.Pro1700Thr) c.5077C>A (p.Pro1693Thr) c.4984C>A (p.Pro1662Thr) c.3538C>A (p.Pro1180Thr) | gnomAD v4 |
8 | g.41933255A>C | CA460783372 | KAT6A | c.4965T>G (p.Pro1655=) c.4971T>G (p.Pro1657=) c.3646T>G c.5097T>G (p.Pro1699=) c.5076T>G (p.Pro1692=) c.4983T>G (p.Pro1661=) c.3537T>G (p.Pro1179=) | |
8 | g.41933255A>G | CA460783373 | KAT6A | c.4965T>C (p.Pro1655=) c.4971T>C (p.Pro1657=) c.3646T>C c.5097T>C (p.Pro1699=) c.5076T>C (p.Pro1692=) c.4983T>C (p.Pro1661=) c.3537T>C (p.Pro1179=) | dbSNP gnomAD v4 |
8 | g.41933255A>T | CA460783374 | KAT6A | c.4965T>A (p.Pro1655=) c.4971T>A (p.Pro1657=) c.3646T>A c.5097T>A (p.Pro1699=) c.5076T>A (p.Pro1692=) c.4983T>A (p.Pro1661=) c.3537T>A (p.Pro1179=) | |
8 | g.41933255_41933264delinsAGGCGGTGGT | CA1779195848 | KAT6A | c.4956_4965delinsACCACCGCCT (p.Pro1652=) c.4962_4971delinsACCACCGCCT (p.Pro1654=) c.3637_3646delinsACCACCGCCT c.5088_5097delinsACCACCGCCT (p.Pro1696=) c.5067_5076delinsACCACCGCCT (p.Pro1689=) c.4974_4983delinsACCACCGCCT (p.Pro1658=) c.3528_3537delinsACCACCGCCT (p.Pro1176=) | |
8 | g.41933256G>A | CA371064029 | KAT6A | c.4964C>T (p.Pro1655Leu) c.4970C>T (p.Pro1657Leu) c.3645C>T c.5096C>T (p.Pro1699Leu) c.5075C>T (p.Pro1692Leu) c.4982C>T (p.Pro1661Leu) c.3536C>T (p.Pro1179Leu) | gnomAD v4 |
8 | g.41933256G>C | CA371064032 | KAT6A | c.4964C>G (p.Pro1655Arg) c.4970C>G (p.Pro1657Arg) c.3645C>G c.5096C>G (p.Pro1699Arg) c.5075C>G (p.Pro1692Arg) c.4982C>G (p.Pro1661Arg) c.3536C>G (p.Pro1179Arg) | |
8 | g.41933256G>T | CA371064034 | KAT6A | c.4964C>A (p.Pro1655His) c.4970C>A (p.Pro1657His) c.3645C>A c.5096C>A (p.Pro1699His) c.5075C>A (p.Pro1692His) c.4982C>A (p.Pro1661His) c.3536C>A (p.Pro1179His) | 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.41933257G>A | CA371064040 | KAT6A | c.4963C>T (p.Pro1655Ser) c.4969C>T (p.Pro1657Ser) c.3644C>T c.5095C>T (p.Pro1699Ser) c.5074C>T (p.Pro1692Ser) c.4981C>T (p.Pro1661Ser) c.3535C>T (p.Pro1179Ser) | |
8 | g.41933257G>C | CA175938962 | KAT6A | c.4963C>G (p.Pro1655Ala) c.4969C>G (p.Pro1657Ala) c.3644C>G c.5095C>G (p.Pro1699Ala) c.5074C>G (p.Pro1692Ala) c.4981C>G (p.Pro1661Ala) c.3535C>G (p.Pro1179Ala) | dbSNP |
8 | g.41933257G= | CA1779195849 | KAT6A | c.4963C= (p.Pro1655=) c.4969C= (p.Pro1657=) c.3644C= c.5095C= (p.Pro1699=) c.5074C= (p.Pro1692=) c.4981C= (p.Pro1661=) c.3535C= (p.Pro1179=) | |
8 | g.41933257G>T | CA371064037 | KAT6A | c.4963C>A (p.Pro1655Thr) c.4969C>A (p.Pro1657Thr) c.3644C>A c.5095C>A (p.Pro1699Thr) c.5074C>A (p.Pro1692Thr) c.4981C>A (p.Pro1661Thr) c.3535C>A (p.Pro1179Thr) | |
8 | g.41933258C>A | CA460783380 | KAT6A | c.4962G>T (p.Pro1654=) c.4968G>T (p.Pro1656=) c.3643G>T c.5094G>T (p.Pro1698=) c.5073G>T (p.Pro1691=) c.4980G>T (p.Pro1660=) c.3534G>T (p.Pro1178=) | gnomAD v4 |
8 | g.41933258C= | CA1779195850 | KAT6A | c.4962G= (p.Pro1654=) c.4968G= (p.Pro1656=) c.3643G= c.5094G= (p.Pro1698=) c.5073G= (p.Pro1691=) c.4980G= (p.Pro1660=) c.3534G= (p.Pro1178=) | |
8 | g.41933258C>G | CA460783381 | KAT6A | c.4962G>C (p.Pro1654=) c.4968G>C (p.Pro1656=) c.3643G>C c.5094G>C (p.Pro1698=) c.5073G>C (p.Pro1691=) c.4980G>C (p.Pro1660=) c.3534G>C (p.Pro1178=) | dbSNP |
8 | g.41933258C>T | CA175938965 | KAT6A | c.4962G>A (p.Pro1654=) c.4968G>A (p.Pro1656=) c.3643G>A c.5094G>A (p.Pro1698=) c.5073G>A (p.Pro1691=) c.4980G>A (p.Pro1660=) c.3534G>A (p.Pro1178=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.41933259G>A | CA4729396 | KAT6A | c.4961C>T (p.Pro1654Leu) c.4967C>T (p.Pro1656Leu) c.3642C>T c.5093C>T (p.Pro1698Leu) c.5072C>T (p.Pro1691Leu) c.4979C>T (p.Pro1660Leu) c.3533C>T (p.Pro1178Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.41933259G>C | CA371064046 | KAT6A | c.4961C>G (p.Pro1654Arg) c.4967C>G (p.Pro1656Arg) c.3642C>G c.5093C>G (p.Pro1698Arg) c.5072C>G (p.Pro1691Arg) c.4979C>G (p.Pro1660Arg) c.3533C>G (p.Pro1178Arg) | dbSNP |
8 | g.41933259G= | CA1779195851 | KAT6A | c.4961C= (p.Pro1654=) c.4967C= (p.Pro1656=) c.3642C= c.5093C= (p.Pro1698=) c.5072C= (p.Pro1691=) c.4979C= (p.Pro1660=) c.3533C= (p.Pro1178=) | |
8 | g.41933259G>T | CA175938974 | KAT6A | c.4961C>A (p.Pro1654Gln) c.4967C>A (p.Pro1656Gln) c.3642C>A c.5093C>A (p.Pro1698Gln) c.5072C>A (p.Pro1691Gln) c.4979C>A (p.Pro1660Gln) c.3533C>A (p.Pro1178Gln) | dbSNP gnomAD v4 |
8 | g.41933260G>A | CA371064051 | KAT6A | c.4960C>T (p.Pro1654Ser) c.4966C>T (p.Pro1656Ser) c.3641C>T c.5092C>T (p.Pro1698Ser) c.5071C>T (p.Pro1691Ser) c.4978C>T (p.Pro1660Ser) c.3532C>T (p.Pro1178Ser) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.41933260G>C | CA371064054 | KAT6A | c.4960C>G (p.Pro1654Ala) c.4966C>G (p.Pro1656Ala) c.3641C>G c.5092C>G (p.Pro1698Ala) c.5071C>G (p.Pro1691Ala) c.4978C>G (p.Pro1660Ala) c.3532C>G (p.Pro1178Ala) | |
8 | g.41933260G= | CA1779195852 | KAT6A | c.4960C= (p.Pro1654=) c.4966C= (p.Pro1656=) c.3641C= c.5092C= (p.Pro1698=) c.5071C= (p.Pro1691=) c.4978C= (p.Pro1660=) c.3532C= (p.Pro1178=) | |
8 | g.41933260G>T | CA371064053 | KAT6A | c.4960C>A (p.Pro1654Thr) c.4966C>A (p.Pro1656Thr) c.3641C>A c.5092C>A (p.Pro1698Thr) c.5071C>A (p.Pro1691Thr) c.4978C>A (p.Pro1660Thr) c.3532C>A (p.Pro1178Thr) | ClinVar dbSNP gnomAD v4 |
8 | g.41933261T>A | CA460783386 | KAT6A | c.4959A>T (p.Pro1653=) c.4965A>T (p.Pro1655=) c.3640A>T c.5091A>T (p.Pro1697=) c.5070A>T (p.Pro1690=) c.4977A>T (p.Pro1659=) c.3531A>T (p.Pro1177=) | |
8 | g.41933261T>C | CA460783388 | KAT6A | c.4959A>G (p.Pro1653=) c.4965A>G (p.Pro1655=) c.3640A>G c.5091A>G (p.Pro1697=) c.5070A>G (p.Pro1690=) c.4977A>G (p.Pro1659=) c.3531A>G (p.Pro1177=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.41933261T>G | CA4729397 | KAT6A | c.4959A>C (p.Pro1653=) c.4965A>C (p.Pro1655=) c.3640A>C c.5091A>C (p.Pro1697=) c.5070A>C (p.Pro1690=) c.4977A>C (p.Pro1659=) c.3531A>C (p.Pro1177=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.41933261T= | CA1779195853 | KAT6A | c.4959A= (p.Pro1653=) c.4965A= (p.Pro1655=) c.3640A= c.5091A= (p.Pro1697=) c.5070A= (p.Pro1690=) c.4977A= (p.Pro1659=) c.3531A= (p.Pro1177=) | |
8 | g.41933262G>A | CA371064058 | KAT6A | c.4958C>T (p.Pro1653Leu) c.4964C>T (p.Pro1655Leu) c.3639C>T c.5090C>T (p.Pro1697Leu) c.5069C>T (p.Pro1690Leu) c.4976C>T (p.Pro1659Leu) c.3530C>T (p.Pro1177Leu) | ClinVar gnomAD v4 |
8 | g.41933262G>C | CA371064060 | KAT6A | c.4958C>G (p.Pro1653Arg) c.4964C>G (p.Pro1655Arg) c.3639C>G c.5090C>G (p.Pro1697Arg) c.5069C>G (p.Pro1690Arg) c.4976C>G (p.Pro1659Arg) c.3530C>G (p.Pro1177Arg) | |
8 | g.41933262G>T | CA371064062 | KAT6A | c.4958C>A (p.Pro1653Gln) c.4964C>A (p.Pro1655Gln) c.3639C>A c.5090C>A (p.Pro1697Gln) c.5069C>A (p.Pro1690Gln) c.4976C>A (p.Pro1659Gln) c.3530C>A (p.Pro1177Gln) | |
8 | g.41933263G>A | CA371064064 | KAT6A | c.4957C>T (p.Pro1653Ser) c.4963C>T (p.Pro1655Ser) c.3638C>T c.5089C>T (p.Pro1697Ser) c.5068C>T (p.Pro1690Ser) c.4975C>T (p.Pro1659Ser) c.3529C>T (p.Pro1177Ser) | ClinVar |
8 | g.41933263G>C | CA371064066 | KAT6A | c.4957C>G (p.Pro1653Ala) c.4963C>G (p.Pro1655Ala) c.3638C>G c.5089C>G (p.Pro1697Ala) c.5068C>G (p.Pro1690Ala) c.4975C>G (p.Pro1659Ala) c.3529C>G (p.Pro1177Ala) | gnomAD v4 |
8 | g.41933263G>T | CA371064068 | KAT6A | c.4957C>A (p.Pro1653Thr) c.4963C>A (p.Pro1655Thr) c.3638C>A c.5089C>A (p.Pro1697Thr) c.5068C>A (p.Pro1690Thr) c.4975C>A (p.Pro1659Thr) c.3529C>A (p.Pro1177Thr) | gnomAD v4 |
8 | g.41933264T>A | CA460783395 | KAT6A | c.4956A>T (p.Pro1652=) c.4962A>T (p.Pro1654=) c.3637A>T c.5088A>T (p.Pro1696=) c.5067A>T (p.Pro1689=) c.4974A>T (p.Pro1658=) c.3528A>T (p.Pro1176=) | gnomAD v4 |
8 | g.41933264T>C | CA4729398 | KAT6A | c.4956A>G (p.Pro1652=) c.4962A>G (p.Pro1654=) c.3637A>G c.5088A>G (p.Pro1696=) c.5067A>G (p.Pro1689=) c.4974A>G (p.Pro1658=) c.3528A>G (p.Pro1176=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.41933264T>G | CA460783398 | KAT6A | c.4956A>C (p.Pro1652=) c.4962A>C (p.Pro1654=) c.3637A>C c.5088A>C (p.Pro1696=) c.5067A>C (p.Pro1689=) c.4974A>C (p.Pro1658=) c.3528A>C (p.Pro1176=) | dbSNP |
8 | g.41933264T= | CA1779195854 | KAT6A | c.4956A= (p.Pro1652=) c.4962A= (p.Pro1654=) c.3637A= c.5088A= (p.Pro1696=) c.5067A= (p.Pro1689=) c.4974A= (p.Pro1658=) c.3528A= (p.Pro1176=) | |
8 | g.41933265G>A | CA371064072 | KAT6A | c.4955C>T (p.Pro1652Leu) c.4961C>T (p.Pro1654Leu) c.3636C>T c.5087C>T (p.Pro1696Leu) c.5066C>T (p.Pro1689Leu) c.4973C>T (p.Pro1658Leu) c.3527C>T (p.Pro1176Leu) | |
8 | g.41933265G>C | CA371064074 | KAT6A | c.4955C>G (p.Pro1652Arg) c.4961C>G (p.Pro1654Arg) c.3636C>G c.5087C>G (p.Pro1696Arg) c.5066C>G (p.Pro1689Arg) c.4973C>G (p.Pro1658Arg) c.3527C>G (p.Pro1176Arg) | |
8 | g.41933265G= | CA1779195855 | KAT6A | c.4955C= (p.Pro1652=) c.4961C= (p.Pro1654=) c.3636C= c.5087C= (p.Pro1696=) c.5066C= (p.Pro1689=) c.4973C= (p.Pro1658=) c.3527C= (p.Pro1176=) | |
8 | g.41933265G>T | CA175938993 | KAT6A | c.4955C>A (p.Pro1652Gln) c.4961C>A (p.Pro1654Gln) c.3636C>A c.5087C>A (p.Pro1696Gln) c.5066C>A (p.Pro1689Gln) c.4973C>A (p.Pro1658Gln) c.3527C>A (p.Pro1176Gln) | dbSNP gnomAD v2 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.41933266G>A | CA371064078 | KAT6A | c.4954C>T (p.Pro1652Ser) c.4960C>T (p.Pro1654Ser) c.3635C>T c.5086C>T (p.Pro1696Ser) c.5065C>T (p.Pro1689Ser) c.4972C>T (p.Pro1658Ser) c.3526C>T (p.Pro1176Ser) | gnomAD v4 |
8 | g.41933266G>C | CA371064080 | KAT6A | c.4954C>G (p.Pro1652Ala) c.4960C>G (p.Pro1654Ala) c.3635C>G c.5086C>G (p.Pro1696Ala) c.5065C>G (p.Pro1689Ala) c.4972C>G (p.Pro1658Ala) c.3526C>G (p.Pro1176Ala) | |
8 | g.41933266G>T | CA371064082 | KAT6A | c.4954C>A (p.Pro1652Thr) c.4960C>A (p.Pro1654Thr) c.3635C>A c.5086C>A (p.Pro1696Thr) c.5065C>A (p.Pro1689Thr) c.4972C>A (p.Pro1658Thr) c.3526C>A (p.Pro1176Thr) | gnomAD v4 |
8 | g.41933267C>A | CA460783400 | KAT6A | c.4953G>T (p.Pro1651=) c.4959G>T (p.Pro1653=) c.3634G>T c.5085G>T (p.Pro1695=) c.5064G>T (p.Pro1688=) c.4971G>T (p.Pro1657=) c.3525G>T (p.Pro1175=) | gnomAD v4 |
8 | g.41933267C= | CA1779195856 | KAT6A | c.4953G= (p.Pro1651=) c.4959G= (p.Pro1653=) c.3634G= c.5085G= (p.Pro1695=) c.5064G= (p.Pro1688=) c.4971G= (p.Pro1657=) c.3525G= (p.Pro1175=) | |
8 | g.41933267C>G | CA460783402 | KAT6A | c.4953G>C (p.Pro1651=) c.4959G>C (p.Pro1653=) c.3634G>C c.5085G>C (p.Pro1695=) c.5064G>C (p.Pro1688=) c.4971G>C (p.Pro1657=) c.3525G>C (p.Pro1175=) | gnomAD v4 |
8 | g.41933267C>T | CA4729399 | KAT6A | c.4953G>A (p.Pro1651=) c.4959G>A (p.Pro1653=) c.3634G>A c.5085G>A (p.Pro1695=) c.5064G>A (p.Pro1688=) c.4971G>A (p.Pro1657=) c.3525G>A (p.Pro1175=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.41933267_41933268insTGT | CA2717020650 | KAT6A | c.4952_4953insACA (p.Pro1651_Pro1652insGln) c.4958_4959insACA (p.Pro1653_Pro1654insGln) c.3633_3634insACA c.5084_5085insACA (p.Pro1695_Pro1696insGln) c.5063_5064insACA (p.Pro1688_Pro1689insGln) c.4970_4971insACA (p.Pro1657_Pro1658insGln) c.3524_3525insACA (p.Pro1175_Pro1176insGln) | dbSNP |
8 | g.41933268G>A | CA4729400 | KAT6A | c.4952C>T (p.Pro1651Leu) c.4958C>T (p.Pro1653Leu) c.3633C>T c.5084C>T (p.Pro1695Leu) c.5063C>T (p.Pro1688Leu) c.4970C>T (p.Pro1657Leu) c.3524C>T (p.Pro1175Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.41933268G>C | CA371064087 | KAT6A | c.4952C>G (p.Pro1651Arg) c.4958C>G (p.Pro1653Arg) c.3633C>G c.5084C>G (p.Pro1695Arg) c.5063C>G (p.Pro1688Arg) c.4970C>G (p.Pro1657Arg) c.3524C>G (p.Pro1175Arg) | |
8 | g.41933268G= | CA1779195857 | KAT6A | c.4952C= (p.Pro1651=) c.4958C= (p.Pro1653=) c.3633C= c.5084C= (p.Pro1695=) c.5063C= (p.Pro1688=) c.4970C= (p.Pro1657=) c.3524C= (p.Pro1175=) | |
8 | g.41933268G>T | CA371064089 | KAT6A | c.4952C>A (p.Pro1651Gln) c.4958C>A (p.Pro1653Gln) c.3633C>A c.5084C>A (p.Pro1695Gln) c.5063C>A (p.Pro1688Gln) c.4970C>A (p.Pro1657Gln) c.3524C>A (p.Pro1175Gln) | gnomAD v4 COSMIC |
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) |