Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
8 | g.41933126_41933164del | CA2687076925 | KAT6A | c.5063_5101del (p.Gln1688_Pro1700del) c.5069_5107del (p.Gln1690_Pro1702del) c.3744_3782del c.5195_5233del (p.Gln1732_Pro1744del) c.5174_5212del (p.Gln1725_Pro1737del) c.5081_5119del (p.Gln1694_Pro1706del) c.3635_3673del (p.Gln1212_Pro1224del) | gnomAD v4 |
8 | g.41933120_41933183delinsGGGCTGCTGCTGGGGAGGGGGTGGGGGTGGAGGCTGCTGGGGCTGAGGCTGCGGCTGCTGTTGC | CA1779195763 | KAT6A | c.5037_5100delinsGCAACAGCAGCCGCAGCCTCAGCCCCAGCAGCCTCCACCCCCACCCCCTCCCCAGCAGCAGCCC (p.Pro1679=) c.5043_5106delinsGCAACAGCAGCCGCAGCCTCAGCCCCAGCAGCCTCCACCCCCACCCCCTCCCCAGCAGCAGCCC (p.Pro1681=) c.3718_3781delinsGCAACAGCAGCCGCAGCCTCAGCCCCAGCAGCCTCCACCCCCACCCCCTCCCCAGCAGCAGCCC c.5169_5232delinsGCAACAGCAGCCGCAGCCTCAGCCCCAGCAGCCTCCACCCCCACCCCCTCCCCAGCAGCAGCCC (p.Pro1723=) c.5148_5211delinsGCAACAGCAGCCGCAGCCTCAGCCCCAGCAGCCTCCACCCCCACCCCCTCCCCAGCAGCAGCCC (p.Pro1716=) c.5055_5118delinsGCAACAGCAGCCGCAGCCTCAGCCCCAGCAGCCTCCACCCCCACCCCCTCCCCAGCAGCAGCCC (p.Pro1685=) c.3609_3672delinsGCAACAGCAGCCGCAGCCTCAGCCCCAGCAGCCTCCACCCCCACCCCCTCCCCAGCAGCAGCCC (p.Pro1203=) | |
8 | g.41933135_41933197del | CA581928328 | KAT6A | c.5037_5099del (p.Gln1680_Pro1700del) c.5043_5105del (p.Gln1682_Pro1702del) c.3718_3780del c.5169_5231del (p.Gln1724_Pro1744del) c.5148_5210del (p.Gln1717_Pro1737del) c.5055_5117del (p.Gln1686_Pro1706del) c.3609_3671del (p.Gln1204_Pro1224del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.41933135_41933161del | CA2579153671 | KAT6A | c.5069_5095del (p.Pro1690_Gln1698del) c.5075_5101del (p.Pro1692_Gln1700del) c.3750_3776del c.5201_5227del (p.Pro1734_Gln1742del) c.5180_5206del (p.Pro1727_Gln1735del) c.5087_5113del (p.Pro1696_Gln1704del) c.3641_3667del (p.Pro1214_Gln1222del) | gnomAD v3 gnomAD v4 |
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.41933159_41933164dup | CA4729365 | KAT6A | c.5060_5065dup (p.Gln1688_Gln1689insProGln) c.5066_5071dup (p.Gln1690_Gln1691insProGln) c.3741_3746dup c.5192_5197dup (p.Gln1732_Gln1733insProGln) c.5171_5176dup (p.Gln1725_Gln1726insProGln) c.5078_5083dup (p.Gln1694_Gln1695insProGln) c.3632_3637dup (p.Gln1212_Gln1213insProGln) | dbSNP ExAC gnomAD v2 |
8 | g.41933160G>A | CA4729367 | KAT6A | c.5060C>T (p.Pro1687Leu) c.5066C>T (p.Pro1689Leu) c.3741C>T c.5192C>T (p.Pro1731Leu) c.5171C>T (p.Pro1724Leu) c.5078C>T (p.Pro1693Leu) c.3632C>T (p.Pro1211Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.41933160G>C | CA371063739 | KAT6A | c.5060C>G (p.Pro1687Arg) c.5066C>G (p.Pro1689Arg) c.3741C>G c.5192C>G (p.Pro1731Arg) c.5171C>G (p.Pro1724Arg) c.5078C>G (p.Pro1693Arg) c.3632C>G (p.Pro1211Arg) | |
8 | g.41933160G= | CA1779195786 | KAT6A | c.5060C= (p.Pro1687=) c.5066C= (p.Pro1689=) c.3741C= c.5192C= (p.Pro1731=) c.5171C= (p.Pro1724=) c.5078C= (p.Pro1693=) c.3632C= (p.Pro1211=) | |
8 | g.41933160G>T | CA371063738 | KAT6A | c.5060C>A (p.Pro1687His) c.5066C>A (p.Pro1689His) c.3741C>A c.5192C>A (p.Pro1731His) c.5171C>A (p.Pro1724His) c.5078C>A (p.Pro1693His) c.3632C>A (p.Pro1211His) | |
8 | g.41933165_41933170dup | CA2687076940 | KAT6A | c.5055_5060dup (p.Pro1687_Gln1688insGlnPro) c.5061_5066dup (p.Pro1689_Gln1690insGlnPro) c.3736_3741dup c.5187_5192dup (p.Pro1731_Gln1732insGlnPro) c.5166_5171dup (p.Pro1724_Gln1725insGlnPro) c.5073_5078dup (p.Pro1693_Gln1694insGlnPro) c.3627_3632dup (p.Pro1211_Gln1212insGlnPro) | gnomAD v4 |
8 | g.41933161G>A | CA371063740 | KAT6A | c.5059C>T (p.Pro1687Ser) c.5065C>T (p.Pro1689Ser) c.3740C>T c.5191C>T (p.Pro1731Ser) c.5170C>T (p.Pro1724Ser) c.5077C>T (p.Pro1693Ser) c.3631C>T (p.Pro1211Ser) | gnomAD v4 |
8 | g.41933161G>C | CA371063741 | KAT6A | c.5059C>G (p.Pro1687Ala) c.5065C>G (p.Pro1689Ala) c.3740C>G c.5191C>G (p.Pro1731Ala) c.5170C>G (p.Pro1724Ala) c.5077C>G (p.Pro1693Ala) c.3631C>G (p.Pro1211Ala) | |
8 | g.41933161G>T | CA371063742 | KAT6A | c.5059C>A (p.Pro1687Thr) c.5065C>A (p.Pro1689Thr) c.3740C>A c.5191C>A (p.Pro1731Thr) c.5170C>A (p.Pro1724Thr) c.5077C>A (p.Pro1693Thr) c.3631C>A (p.Pro1211Thr) | gnomAD v4 |
8 | g.41933162C>A | CA371063743 | KAT6A | c.5058G>T (p.Gln1686His) c.5064G>T (p.Gln1688His) c.3739G>T c.5190G>T (p.Gln1730His) c.5169G>T (p.Gln1723His) c.5076G>T (p.Gln1692His) c.3630G>T (p.Gln1210His) | gnomAD v4 |
8 | g.41933162C= | CA1779195787 | KAT6A | c.5058G= (p.Gln1686=) c.5064G= (p.Gln1688=) c.3739G= c.5190G= (p.Gln1730=) c.5169G= (p.Gln1723=) c.5076G= (p.Gln1692=) c.3630G= (p.Gln1210=) | |
8 | g.41933162C>G | CA371063744 | KAT6A | c.5058G>C (p.Gln1686His) c.5064G>C (p.Gln1688His) c.3739G>C c.5190G>C (p.Gln1730His) c.5169G>C (p.Gln1723His) c.5076G>C (p.Gln1692His) c.3630G>C (p.Gln1210His) | |
8 | g.41933162C>T | CA4729368 | KAT6A | c.5058G>A (p.Gln1686=) c.5064G>A (p.Gln1688=) c.3739G>A c.5190G>A (p.Gln1730=) c.5169G>A (p.Gln1723=) c.5076G>A (p.Gln1692=) c.3630G>A (p.Gln1210=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.41933163T>A | CA371063745 | KAT6A | c.5057A>T (p.Gln1686Leu) c.5063A>T (p.Gln1688Leu) c.3738A>T c.5189A>T (p.Gln1730Leu) c.5168A>T (p.Gln1723Leu) c.5075A>T (p.Gln1692Leu) c.3629A>T (p.Gln1210Leu) | |
8 | g.41933163T>C | CA371063746 | KAT6A | c.5057A>G (p.Gln1686Arg) c.5063A>G (p.Gln1688Arg) c.3738A>G c.5189A>G (p.Gln1730Arg) c.5168A>G (p.Gln1723Arg) c.5075A>G (p.Gln1692Arg) c.3629A>G (p.Gln1210Arg) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
8 | g.41933163T>G | CA371063747 | KAT6A | c.5057A>C (p.Gln1686Pro) c.5063A>C (p.Gln1688Pro) c.3738A>C c.5189A>C (p.Gln1730Pro) c.5168A>C (p.Gln1723Pro) c.5075A>C (p.Gln1692Pro) c.3629A>C (p.Gln1210Pro) | gnomAD v4 |
8 | g.41933163T= | CA1779195788 | KAT6A | c.5057A= (p.Gln1686=) c.5063A= (p.Gln1688=) c.3738A= c.5189A= (p.Gln1730=) c.5168A= (p.Gln1723=) c.5075A= (p.Gln1692=) c.3629A= (p.Gln1210=) | |
8 | g.41933164G>A | CA371063748 | KAT6A | c.5056C>T (p.Gln1686Ter) c.5062C>T (p.Gln1688Ter) c.3737C>T c.5188C>T (p.Gln1730Ter) c.5167C>T (p.Gln1723Ter) c.5074C>T (p.Gln1692Ter) c.3628C>T (p.Gln1210Ter) | |
8 | g.41933164G>C | CA371063749 | KAT6A | c.5056C>G (p.Gln1686Glu) c.5062C>G (p.Gln1688Glu) c.3737C>G c.5188C>G (p.Gln1730Glu) c.5167C>G (p.Gln1723Glu) c.5074C>G (p.Gln1692Glu) c.3628C>G (p.Gln1210Glu) | |
8 | g.41933164G>T | CA371063750 | KAT6A | c.5056C>A (p.Gln1686Lys) c.5062C>A (p.Gln1688Lys) c.3737C>A c.5188C>A (p.Gln1730Lys) c.5167C>A (p.Gln1723Lys) c.5074C>A (p.Gln1692Lys) c.3628C>A (p.Gln1210Lys) | |
8 | g.41933165A= | CA1779195789 | KAT6A | c.5055T= (p.Pro1685=) c.5061T= (p.Pro1687=) c.3736T= c.5187T= (p.Pro1729=) c.5166T= (p.Pro1722=) c.5073T= (p.Pro1691=) c.3627T= (p.Pro1209=) | |
8 | g.41933165A>C | CA460783577 | KAT6A | c.5055T>G (p.Pro1685=) c.5061T>G (p.Pro1687=) c.3736T>G c.5187T>G (p.Pro1729=) c.5166T>G (p.Pro1722=) c.5073T>G (p.Pro1691=) c.3627T>G (p.Pro1209=) | |
8 | g.41933165A>G | CA460783578 | KAT6A | c.5055T>C (p.Pro1685=) c.5061T>C (p.Pro1687=) c.3736T>C c.5187T>C (p.Pro1729=) c.5166T>C (p.Pro1722=) c.5073T>C (p.Pro1691=) c.3627T>C (p.Pro1209=) | |
8 | g.41933165A>T | CA460783579 | KAT6A | c.5055T>A (p.Pro1685=) c.5061T>A (p.Pro1687=) c.3736T>A c.5187T>A (p.Pro1729=) c.5166T>A (p.Pro1722=) c.5073T>A (p.Pro1691=) c.3627T>A (p.Pro1209=) | |
8 | g.41933166G>A | CA371063751 | KAT6A | c.5054C>T (p.Pro1685Leu) c.5060C>T (p.Pro1687Leu) c.3735C>T c.5186C>T (p.Pro1729Leu) c.5165C>T (p.Pro1722Leu) c.5072C>T (p.Pro1691Leu) c.3626C>T (p.Pro1209Leu) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.41933166G>C | CA371063753 | KAT6A | c.5054C>G (p.Pro1685Arg) c.5060C>G (p.Pro1687Arg) c.3735C>G c.5186C>G (p.Pro1729Arg) c.5165C>G (p.Pro1722Arg) c.5072C>G (p.Pro1691Arg) c.3626C>G (p.Pro1209Arg) | |
8 | g.41933166G= | CA1779195791 | KAT6A | c.5054C= (p.Pro1685=) c.5060C= (p.Pro1687=) c.3735C= c.5186C= (p.Pro1729=) c.5165C= (p.Pro1722=) c.5072C= (p.Pro1691=) c.3626C= (p.Pro1209=) | |
8 | g.41933166G>T | CA371063752 | KAT6A | c.5054C>A (p.Pro1685His) c.5060C>A (p.Pro1687His) c.3735C>A c.5186C>A (p.Pro1729His) c.5165C>A (p.Pro1722His) c.5072C>A (p.Pro1691His) c.3626C>A (p.Pro1209His) | |
8 | g.41933172_41933177dup | CA851857985 | KAT6A | c.5049_5054dup (p.Pro1685_Gln1686insGlnPro) c.5055_5060dup (p.Pro1687_Gln1688insGlnPro) c.3730_3735dup c.5181_5186dup (p.Pro1729_Gln1730insGlnPro) c.5160_5165dup (p.Pro1722_Gln1723insGlnPro) c.5067_5072dup (p.Pro1691_Gln1692insGlnPro) c.3621_3626dup (p.Pro1209_Gln1210insGlnPro) | dbSNP gnomAD v4 |
8 | g.41933172_41933177del | CA2579153677 | KAT6A | c.5049_5054del (p.Gln1684_Pro1685del) c.5055_5060del (p.Gln1686_Pro1687del) c.3730_3735del c.5181_5186del (p.Gln1728_Pro1729del) c.5160_5165del (p.Gln1721_Pro1722del) c.5067_5072del (p.Gln1690_Pro1691del) c.3621_3626del (p.Gln1208_Pro1209del) | gnomAD v4 |
8 | g.41933166_41933178delinsGGCTGCGGCTGCT | CA1779195790 | KAT6A | c.5042_5054delinsAGCAGCCGCAGCC (p.Gln1681=) c.5048_5060delinsAGCAGCCGCAGCC (p.Gln1683=) c.3723_3735delinsAGCAGCCGCAGCC c.5174_5186delinsAGCAGCCGCAGCC (p.Gln1725=) c.5153_5165delinsAGCAGCCGCAGCC (p.Gln1718=) c.5060_5072delinsAGCAGCCGCAGCC (p.Gln1687=) c.3614_3626delinsAGCAGCCGCAGCC (p.Gln1205=) | |
8 | g.41933167G>A | CA371063754 | KAT6A | c.5053C>T (p.Pro1685Ser) c.5059C>T (p.Pro1687Ser) c.3734C>T c.5185C>T (p.Pro1729Ser) c.5164C>T (p.Pro1722Ser) c.5071C>T (p.Pro1691Ser) c.3625C>T (p.Pro1209Ser) | gnomAD v4 |
8 | g.41933167G>C | CA371063755 | KAT6A | c.5053C>G (p.Pro1685Ala) c.5059C>G (p.Pro1687Ala) c.3734C>G c.5185C>G (p.Pro1729Ala) c.5164C>G (p.Pro1722Ala) c.5071C>G (p.Pro1691Ala) c.3625C>G (p.Pro1209Ala) | |
8 | g.41933167G>T | CA371063756 | KAT6A | c.5053C>A (p.Pro1685Thr) c.5059C>A (p.Pro1687Thr) c.3734C>A c.5185C>A (p.Pro1729Thr) c.5164C>A (p.Pro1722Thr) c.5071C>A (p.Pro1691Thr) c.3625C>A (p.Pro1209Thr) | gnomAD v4 |
8 | g.41933168_41933179del | CA581928329 | KAT6A | c.5042_5053del (p.Gln1681_Gln1684del) c.5048_5059del (p.Gln1683_Gln1686del) c.3723_3734del c.5174_5185del (p.Gln1725_Gln1728del) c.5153_5164del (p.Gln1718_Gln1721del) c.5060_5071del (p.Gln1687_Gln1690del) c.3614_3625del (p.Gln1205_Gln1208del) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.41933168C>A | CA371063757 | KAT6A | c.5052G>T (p.Gln1684His) c.5058G>T (p.Gln1686His) c.3733G>T c.5184G>T (p.Gln1728His) c.5163G>T (p.Gln1721His) c.5070G>T (p.Gln1690His) c.3624G>T (p.Gln1208His) | |
8 | g.41933168C>G | CA371063758 | KAT6A | c.5052G>C (p.Gln1684His) c.5058G>C (p.Gln1686His) c.3733G>C c.5184G>C (p.Gln1728His) c.5163G>C (p.Gln1721His) c.5070G>C (p.Gln1690His) c.3624G>C (p.Gln1208His) | |
8 | g.41933168C>T | CA460783581 | KAT6A | c.5052G>A (p.Gln1684=) c.5058G>A (p.Gln1686=) c.3733G>A c.5184G>A (p.Gln1728=) c.5163G>A (p.Gln1721=) c.5070G>A (p.Gln1690=) c.3624G>A (p.Gln1208=) | |
8 | g.41933168_41933180delinsCTGCGGCTGCTGT | CA1779195792 | KAT6A | c.5040_5052delinsACAGCAGCCGCAG (p.Gln1680=) c.5046_5058delinsACAGCAGCCGCAG (p.Gln1682=) c.3721_3733delinsACAGCAGCCGCAG c.5172_5184delinsACAGCAGCCGCAG (p.Gln1724=) c.5151_5163delinsACAGCAGCCGCAG (p.Gln1717=) c.5058_5070delinsACAGCAGCCGCAG (p.Gln1686=) c.3612_3624delinsACAGCAGCCGCAG (p.Gln1204=) | |
8 | g.41933169T>A | CA371063759 | KAT6A | c.5051A>T (p.Gln1684Leu) c.5057A>T (p.Gln1686Leu) c.3732A>T c.5183A>T (p.Gln1728Leu) c.5162A>T (p.Gln1721Leu) c.5069A>T (p.Gln1690Leu) c.3623A>T (p.Gln1208Leu) | |
8 | g.41933169T>C | CA371063760 | KAT6A | c.5051A>G (p.Gln1684Arg) c.5057A>G (p.Gln1686Arg) c.3732A>G c.5183A>G (p.Gln1728Arg) c.5162A>G (p.Gln1721Arg) c.5069A>G (p.Gln1690Arg) c.3623A>G (p.Gln1208Arg) | |
8 | g.41933169T>G | CA371063761 | KAT6A | c.5051A>C (p.Gln1684Pro) c.5057A>C (p.Gln1686Pro) c.3732A>C c.5183A>C (p.Gln1728Pro) c.5162A>C (p.Gln1721Pro) c.5069A>C (p.Gln1690Pro) c.3623A>C (p.Gln1208Pro) | |
8 | g.41933180_41933191del | CA4729369 | KAT6A | c.5040_5051del (p.Gln1681_Gln1684del) c.5046_5057del (p.Gln1683_Gln1686del) c.3721_3732del c.5172_5183del (p.Gln1725_Gln1728del) c.5151_5162del (p.Gln1718_Gln1721del) c.5058_5069del (p.Gln1687_Gln1690del) c.3612_3623del (p.Gln1205_Gln1208del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.41933170G>A | CA371063763 | KAT6A | c.5050C>T (p.Gln1684Ter) c.5056C>T (p.Gln1686Ter) c.3731C>T c.5182C>T (p.Gln1728Ter) c.5161C>T (p.Gln1721Ter) c.5068C>T (p.Gln1690Ter) c.3622C>T (p.Gln1208Ter) | |
8 | g.41933170G>C | CA371063762 | KAT6A | c.5050C>G (p.Gln1684Glu) c.5056C>G (p.Gln1686Glu) c.3731C>G c.5182C>G (p.Gln1728Glu) c.5161C>G (p.Gln1721Glu) c.5068C>G (p.Gln1690Glu) c.3622C>G (p.Gln1208Glu) | |
8 | g.41933170G>T | CA371063764 | KAT6A | c.5050C>A (p.Gln1684Lys) c.5056C>A (p.Gln1686Lys) c.3731C>A c.5182C>A (p.Gln1728Lys) c.5161C>A (p.Gln1721Lys) c.5068C>A (p.Gln1690Lys) c.3622C>A (p.Gln1208Lys) | |
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.41933171C>A | CA4729371 | KAT6A | c.5049G>T (p.Pro1683=) c.5055G>T (p.Pro1685=) c.3730G>T c.5181G>T (p.Pro1727=) c.5160G>T (p.Pro1720=) c.5067G>T (p.Pro1689=) c.3621G>T (p.Pro1207=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.41933171C= | CA1779195793 | KAT6A | c.5049G= (p.Pro1683=) c.5055G= (p.Pro1685=) c.3730G= c.5181G= (p.Pro1727=) c.5160G= (p.Pro1720=) c.5067G= (p.Pro1689=) c.3621G= (p.Pro1207=) | |
8 | g.41933171C>G | CA460783582 | KAT6A | c.5049G>C (p.Pro1683=) c.5055G>C (p.Pro1685=) c.3730G>C c.5181G>C (p.Pro1727=) c.5160G>C (p.Pro1720=) c.5067G>C (p.Pro1689=) c.3621G>C (p.Pro1207=) | |
8 | g.41933171C>T | CA4729370 | KAT6A | c.5049G>A (p.Pro1683=) c.5055G>A (p.Pro1685=) c.3730G>A c.5181G>A (p.Pro1727=) c.5160G>A (p.Pro1720=) c.5067G>A (p.Pro1689=) c.3621G>A (p.Pro1207=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
8 | g.41933172G>A | CA371063765 | KAT6A | c.5048C>T (p.Pro1683Leu) c.5054C>T (p.Pro1685Leu) c.3729C>T c.5180C>T (p.Pro1727Leu) c.5159C>T (p.Pro1720Leu) c.5066C>T (p.Pro1689Leu) c.3620C>T (p.Pro1207Leu) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.41933172G>C | CA371063766 | KAT6A | c.5048C>G (p.Pro1683Arg) c.5054C>G (p.Pro1685Arg) c.3729C>G c.5180C>G (p.Pro1727Arg) c.5159C>G (p.Pro1720Arg) c.5066C>G (p.Pro1689Arg) c.3620C>G (p.Pro1207Arg) | |
8 | g.41933172G= | CA1779195794 | KAT6A | c.5048C= (p.Pro1683=) c.5054C= (p.Pro1685=) c.3729C= c.5180C= (p.Pro1727=) c.5159C= (p.Pro1720=) c.5066C= (p.Pro1689=) c.3620C= (p.Pro1207=) | |
8 | g.41933172G>T | CA371063767 | KAT6A | c.5048C>A (p.Pro1683Gln) c.5054C>A (p.Pro1685Gln) c.3729C>A c.5180C>A (p.Pro1727Gln) c.5159C>A (p.Pro1720Gln) c.5066C>A (p.Pro1689Gln) c.3620C>A (p.Pro1207Gln) | gnomAD v4 |
8 | g.41933172_41933175delinsGGCT | CA1779195795 | KAT6A | c.5045_5048delinsAGCC (p.Gln1682=) c.5051_5054delinsAGCC (p.Gln1684=) c.3726_3729delinsAGCC c.5177_5180delinsAGCC (p.Gln1726=) c.5156_5159delinsAGCC (p.Gln1719=) c.5063_5066delinsAGCC (p.Gln1688=) c.3617_3620delinsAGCC (p.Gln1206=) | |
8 | g.41933173G>A | CA371063768 | KAT6A | c.5047C>T (p.Pro1683Ser) c.5053C>T (p.Pro1685Ser) c.3728C>T c.5179C>T (p.Pro1727Ser) c.5158C>T (p.Pro1720Ser) c.5065C>T (p.Pro1689Ser) c.3619C>T (p.Pro1207Ser) | gnomAD v4 |
8 | g.41933173G>C | CA371063769 | KAT6A | c.5047C>G (p.Pro1683Ala) c.5053C>G (p.Pro1685Ala) c.3728C>G c.5179C>G (p.Pro1727Ala) c.5158C>G (p.Pro1720Ala) c.5065C>G (p.Pro1689Ala) c.3619C>G (p.Pro1207Ala) | |
8 | g.41933173G>T | CA371063770 | KAT6A | c.5047C>A (p.Pro1683Thr) c.5053C>A (p.Pro1685Thr) c.3728C>A c.5179C>A (p.Pro1727Thr) c.5158C>A (p.Pro1720Thr) c.5065C>A (p.Pro1689Thr) c.3619C>A (p.Pro1207Thr) | gnomAD v4 |
8 | g.41933177_41933179del | CA1779195796 | KAT6A | c.5045_5047del (p.Gln1682del) c.5051_5053del (p.Gln1684del) c.3726_3728del c.5177_5179del (p.Gln1726del) c.5156_5158del (p.Gln1719del) c.5063_5065del (p.Gln1688del) c.3617_3619del (p.Gln1206del) | ClinVar dbSNP gnomAD v4 |
8 | g.41933174_41933179del | CA2687076942 | KAT6A | c.5042_5047del (p.Gln1681_Gln1682del) c.5048_5053del (p.Gln1683_Gln1684del) c.3723_3728del c.5174_5179del (p.Gln1725_Gln1726del) c.5153_5158del (p.Gln1718_Gln1719del) c.5060_5065del (p.Gln1687_Gln1688del) c.3614_3619del (p.Gln1205_Gln1206del) | gnomAD v4 |
8 | g.41933174C>A | CA371063771 | KAT6A | c.5046G>T (p.Gln1682His) c.5052G>T (p.Gln1684His) c.3727G>T c.5178G>T (p.Gln1726His) c.5157G>T (p.Gln1719His) c.5064G>T (p.Gln1688His) c.3618G>T (p.Gln1206His) | |
8 | g.41933174C>G | CA371063772 | KAT6A | c.5046G>C (p.Gln1682His) c.5052G>C (p.Gln1684His) c.3727G>C c.5178G>C (p.Gln1726His) c.5157G>C (p.Gln1719His) c.5064G>C (p.Gln1688His) c.3618G>C (p.Gln1206His) | |
8 | g.41933174C>T | CA460783584 | KAT6A | c.5046G>A (p.Gln1682=) c.5052G>A (p.Gln1684=) c.3727G>A c.5178G>A (p.Gln1726=) c.5157G>A (p.Gln1719=) c.5064G>A (p.Gln1688=) c.3618G>A (p.Gln1206=) | gnomAD v4 |
8 | g.41933175T>A | CA371063775 | KAT6A | c.5045A>T (p.Gln1682Leu) c.5051A>T (p.Gln1684Leu) c.3726A>T c.5177A>T (p.Gln1726Leu) c.5156A>T (p.Gln1719Leu) c.5063A>T (p.Gln1688Leu) c.3617A>T (p.Gln1206Leu) | |
8 | g.41933175T>C | CA371063774 | KAT6A | c.5045A>G (p.Gln1682Arg) c.5051A>G (p.Gln1684Arg) c.3726A>G c.5177A>G (p.Gln1726Arg) c.5156A>G (p.Gln1719Arg) c.5063A>G (p.Gln1688Arg) c.3617A>G (p.Gln1206Arg) | |
8 | g.41933175T>G | CA371063773 | KAT6A | c.5045A>C (p.Gln1682Pro) c.5051A>C (p.Gln1684Pro) c.3726A>C c.5177A>C (p.Gln1726Pro) c.5156A>C (p.Gln1719Pro) c.5063A>C (p.Gln1688Pro) c.3617A>C (p.Gln1206Pro) | |
8 | g.41933176G>A | CA371063776 | KAT6A | c.5044C>T (p.Gln1682Ter) c.5050C>T (p.Gln1684Ter) c.3725C>T c.5176C>T (p.Gln1726Ter) c.5155C>T (p.Gln1719Ter) c.5062C>T (p.Gln1688Ter) c.3616C>T (p.Gln1206Ter) | |
8 | g.41933176G>C | CA371063777 | KAT6A | c.5044C>G (p.Gln1682Glu) c.5050C>G (p.Gln1684Glu) c.3725C>G c.5176C>G (p.Gln1726Glu) c.5155C>G (p.Gln1719Glu) c.5062C>G (p.Gln1688Glu) c.3616C>G (p.Gln1206Glu) | |
8 | g.41933176G>T | CA371063778 | KAT6A | c.5044C>A (p.Gln1682Lys) c.5050C>A (p.Gln1684Lys) c.3725C>A c.5176C>A (p.Gln1726Lys) c.5155C>A (p.Gln1719Lys) c.5062C>A (p.Gln1688Lys) c.3616C>A (p.Gln1206Lys) | gnomAD v4 |
8 | g.41933177C>A | CA371063779 | KAT6A | c.5043G>T (p.Gln1681His) c.5049G>T (p.Gln1683His) c.3724G>T c.5175G>T (p.Gln1725His) c.5154G>T (p.Gln1718His) c.5061G>T (p.Gln1687His) c.3615G>T (p.Gln1205His) | gnomAD v4 |
8 | g.41933177C>G | CA371063780 | KAT6A | c.5043G>C (p.Gln1681His) c.5049G>C (p.Gln1683His) c.3724G>C c.5175G>C (p.Gln1725His) c.5154G>C (p.Gln1718His) c.5061G>C (p.Gln1687His) c.3615G>C (p.Gln1205His) | |
8 | g.41933177C>T | CA460783587 | KAT6A | c.5043G>A (p.Gln1681=) c.5049G>A (p.Gln1683=) c.3724G>A c.5175G>A (p.Gln1725=) c.5154G>A (p.Gln1718=) c.5061G>A (p.Gln1687=) c.3615G>A (p.Gln1205=) | gnomAD v4 |
8 | g.41933178T>A | CA371063781 | KAT6A | c.5042A>T (p.Gln1681Leu) c.5048A>T (p.Gln1683Leu) c.3723A>T c.5174A>T (p.Gln1725Leu) c.5153A>T (p.Gln1718Leu) c.5060A>T (p.Gln1687Leu) c.3614A>T (p.Gln1205Leu) | |
8 | g.41933178T>C | CA371063782 | KAT6A | c.5042A>G (p.Gln1681Arg) c.5048A>G (p.Gln1683Arg) c.3723A>G c.5174A>G (p.Gln1725Arg) c.5153A>G (p.Gln1718Arg) c.5060A>G (p.Gln1687Arg) c.3614A>G (p.Gln1205Arg) | |
8 | g.41933178T>G | CA371063783 | KAT6A | c.5042A>C (p.Gln1681Pro) c.5048A>C (p.Gln1683Pro) c.3723A>C c.5174A>C (p.Gln1725Pro) c.5153A>C (p.Gln1718Pro) c.5060A>C (p.Gln1687Pro) c.3614A>C (p.Gln1205Pro) | |
8 | g.41933179G>A | CA371063784 | KAT6A | c.5041C>T (p.Gln1681Ter) c.5047C>T (p.Gln1683Ter) c.3722C>T c.5173C>T (p.Gln1725Ter) c.5152C>T (p.Gln1718Ter) c.5059C>T (p.Gln1687Ter) c.3613C>T (p.Gln1205Ter) | |
8 | g.41933179G>C | CA371063785 | KAT6A | c.5041C>G (p.Gln1681Glu) c.5047C>G (p.Gln1683Glu) c.3722C>G c.5173C>G (p.Gln1725Glu) c.5152C>G (p.Gln1718Glu) c.5059C>G (p.Gln1687Glu) c.3613C>G (p.Gln1205Glu) | gnomAD v4 |
8 | g.41933179G>T | CA371063786 | KAT6A | c.5041C>A (p.Gln1681Lys) c.5047C>A (p.Gln1683Lys) c.3722C>A c.5173C>A (p.Gln1725Lys) c.5152C>A (p.Gln1718Lys) c.5059C>A (p.Gln1687Lys) c.3613C>A (p.Gln1205Lys) | gnomAD v4 |
8 | g.41933180T>A | CA371063787 | KAT6A | c.5040A>T (p.Gln1680His) c.5046A>T (p.Gln1682His) c.3721A>T c.5172A>T (p.Gln1724His) c.5151A>T (p.Gln1717His) c.5058A>T (p.Gln1686His) c.3612A>T (p.Gln1204His) | |
8 | g.41933180T>C | CA460783590 | KAT6A | c.5040A>G (p.Gln1680=) c.5046A>G (p.Gln1682=) c.3721A>G c.5172A>G (p.Gln1724=) c.5151A>G (p.Gln1717=) c.5058A>G (p.Gln1686=) c.3612A>G (p.Gln1204=) | dbSNP gnomAD v4 |
8 | g.41933180T>G | CA371063788 | KAT6A | c.5040A>C (p.Gln1680His) c.5046A>C (p.Gln1682His) c.3721A>C c.5172A>C (p.Gln1724His) c.5151A>C (p.Gln1717His) c.5058A>C (p.Gln1686His) c.3612A>C (p.Gln1204His) | |
8 | g.41933180_41933192delinsTTGCGGCTGCTGC | CA1779195797 | KAT6A | c.5028_5040delinsGCAGCAGCCGCAA (p.Gln1676=) c.5034_5046delinsGCAGCAGCCGCAA (p.Gln1678=) c.3709_3721delinsGCAGCAGCCGCAA c.5160_5172delinsGCAGCAGCCGCAA (p.Gln1720=) c.5139_5151delinsGCAGCAGCCGCAA (p.Gln1713=) c.5046_5058delinsGCAGCAGCCGCAA (p.Gln1682=) c.3600_3612delinsGCAGCAGCCGCAA (p.Gln1200=) | |
8 | g.41933181T>A | CA371063790 | KAT6A | c.5039A>T (p.Gln1680Leu) c.5045A>T (p.Gln1682Leu) c.3720A>T c.5171A>T (p.Gln1724Leu) c.5150A>T (p.Gln1717Leu) c.5057A>T (p.Gln1686Leu) c.3611A>T (p.Gln1204Leu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
8 | g.41933181T>C | CA371063791 | KAT6A | c.5039A>G (p.Gln1680Arg) c.5045A>G (p.Gln1682Arg) c.3720A>G c.5171A>G (p.Gln1724Arg) c.5150A>G (p.Gln1717Arg) c.5057A>G (p.Gln1686Arg) c.3611A>G (p.Gln1204Arg) | |
8 | g.41933181T>G | CA371063789 | KAT6A | c.5039A>C (p.Gln1680Pro) c.5045A>C (p.Gln1682Pro) c.3720A>C c.5171A>C (p.Gln1724Pro) c.5150A>C (p.Gln1717Pro) c.5057A>C (p.Gln1686Pro) c.3611A>C (p.Gln1204Pro) | |
8 | g.41933181T= | CA1779195798 | KAT6A | c.5039A= (p.Gln1680=) c.5045A= (p.Gln1682=) c.3720A= c.5171A= (p.Gln1724=) c.5150A= (p.Gln1717=) c.5057A= (p.Gln1686=) c.3611A= (p.Gln1204=) | |
8 | g.41933183_41933194dup | CA2580078464 | KAT6A | c.5028_5039dup (p.Gln1680_Gln1681insGlnGlnProGln) c.5034_5045dup (p.Gln1682_Gln1683insGlnGlnProGln) c.3709_3720dup c.5160_5171dup (p.Gln1724_Gln1725insGlnGlnProGln) c.5139_5150dup (p.Gln1717_Gln1718insGlnGlnProGln) c.5046_5057dup (p.Gln1686_Gln1687insGlnGlnProGln) c.3600_3611dup (p.Gln1204_Gln1205insGlnGlnProGln) | ClinVar |
8 | g.41933183_41933194del | CA851858039 | KAT6A | c.5028_5039del (p.Gln1677_Gln1680del) c.5034_5045del (p.Gln1679_Gln1682del) c.3709_3720del c.5160_5171del (p.Gln1721_Gln1724del) c.5139_5150del (p.Gln1714_Gln1717del) c.5046_5057del (p.Gln1683_Gln1686del) c.3600_3611del (p.Gln1201_Gln1204del) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.41933182G>A | CA371063793 | KAT6A | c.5038C>T (p.Gln1680Ter) c.5044C>T (p.Gln1682Ter) c.3719C>T c.5170C>T (p.Gln1724Ter) c.5149C>T (p.Gln1717Ter) c.5056C>T (p.Gln1686Ter) c.3610C>T (p.Gln1204Ter) | gnomAD v4 |
8 | g.41933182G>C | CA371063792 | KAT6A | c.5038C>G (p.Gln1680Glu) c.5044C>G (p.Gln1682Glu) c.3719C>G c.5170C>G (p.Gln1724Glu) c.5149C>G (p.Gln1717Glu) c.5056C>G (p.Gln1686Glu) c.3610C>G (p.Gln1204Glu) | |
8 | g.41933182G= | CA1779195799 | KAT6A | c.5038C= (p.Gln1680=) c.5044C= (p.Gln1682=) c.3719C= c.5170C= (p.Gln1724=) c.5149C= (p.Gln1717=) c.5056C= (p.Gln1686=) c.3610C= (p.Gln1204=) | |
8 | g.41933182G>T | CA4729372 | KAT6A | c.5038C>A (p.Gln1680Lys) c.5044C>A (p.Gln1682Lys) c.3719C>A c.5170C>A (p.Gln1724Lys) c.5149C>A (p.Gln1717Lys) c.5056C>A (p.Gln1686Lys) c.3610C>A (p.Gln1204Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.41933184_41933186del | CA2687076943 | KAT6A | c.5036_5038del (p.Pro1679del) c.5042_5044del (p.Pro1681del) c.3717_3719del c.5168_5170del (p.Pro1723del) c.5147_5149del (p.Pro1716del) c.5054_5056del (p.Pro1685del) c.3608_3610del (p.Pro1203del) | gnomAD v4 |
8 | g.41933183C>A | CA460783597 | KAT6A | c.5037G>T (p.Pro1679=) c.5043G>T (p.Pro1681=) c.3718G>T c.5169G>T (p.Pro1723=) c.5148G>T (p.Pro1716=) c.5055G>T (p.Pro1685=) c.3609G>T (p.Pro1203=) | gnomAD v4 |
8 | g.41933183C= | CA1779195800 | KAT6A | c.5037G= (p.Pro1679=) c.5043G= (p.Pro1681=) c.3718G= c.5169G= (p.Pro1723=) c.5148G= (p.Pro1716=) c.5055G= (p.Pro1685=) c.3609G= (p.Pro1203=) | |
8 | g.41933183C>G | CA460783598 | KAT6A | c.5037G>C (p.Pro1679=) c.5043G>C (p.Pro1681=) c.3718G>C c.5169G>C (p.Pro1723=) c.5148G>C (p.Pro1716=) c.5055G>C (p.Pro1685=) c.3609G>C (p.Pro1203=) | gnomAD v4 |
8 | g.41933183C>T | CA4729373 | KAT6A | c.5037G>A (p.Pro1679=) c.5043G>A (p.Pro1681=) c.3718G>A c.5169G>A (p.Pro1723=) c.5148G>A (p.Pro1716=) c.5055G>A (p.Pro1685=) c.3609G>A (p.Pro1203=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.41933183_41933195delinsCGGCTGCTGCTGG | CA1779195801 | KAT6A | c.5025_5037delinsCCAGCAGCAGCCG (p.Pro1675=) c.5031_5043delinsCCAGCAGCAGCCG (p.Pro1677=) c.3706_3718delinsCCAGCAGCAGCCG c.5157_5169delinsCCAGCAGCAGCCG (p.Pro1719=) c.5136_5148delinsCCAGCAGCAGCCG (p.Pro1712=) c.5043_5055delinsCCAGCAGCAGCCG (p.Pro1681=) c.3597_3609delinsCCAGCAGCAGCCG (p.Pro1199=) | |
8 | g.41933184G>A | CA4729374 | KAT6A | c.5036C>T (p.Pro1679Leu) c.5042C>T (p.Pro1681Leu) c.3717C>T c.5168C>T (p.Pro1723Leu) c.5147C>T (p.Pro1716Leu) c.5054C>T (p.Pro1685Leu) c.3608C>T (p.Pro1203Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.41933184G>C | CA371063794 | KAT6A | c.5036C>G (p.Pro1679Arg) c.5042C>G (p.Pro1681Arg) c.3717C>G c.5168C>G (p.Pro1723Arg) c.5147C>G (p.Pro1716Arg) c.5054C>G (p.Pro1685Arg) c.3608C>G (p.Pro1203Arg) | |
8 | g.41933184G= | CA1779195803 | KAT6A | c.5036C= (p.Pro1679=) c.5042C= (p.Pro1681=) c.3717C= c.5168C= (p.Pro1723=) c.5147C= (p.Pro1716=) c.5054C= (p.Pro1685=) c.3608C= (p.Pro1203=) | |
8 | g.41933184G>T | CA371063795 | KAT6A | c.5036C>A (p.Pro1679Gln) c.5042C>A (p.Pro1681Gln) c.3717C>A c.5168C>A (p.Pro1723Gln) c.5147C>A (p.Pro1716Gln) c.5054C>A (p.Pro1685Gln) c.3608C>A (p.Pro1203Gln) | gnomAD v4 |
8 | g.41933186_41933197del | CA1779195802 | KAT6A | c.5025_5036del (p.Gln1676_Pro1679del) c.5031_5042del (p.Gln1678_Pro1681del) c.3706_3717del c.5157_5168del (p.Gln1720_Pro1723del) c.5136_5147del (p.Gln1713_Pro1716del) c.5043_5054del (p.Gln1682_Pro1685del) c.3597_3608del (p.Gln1200_Pro1203del) | dbSNP gnomAD v4 |
8 | g.41933185G>A | CA371063796 | KAT6A | c.5035C>T (p.Pro1679Ser) c.5041C>T (p.Pro1681Ser) c.3716C>T c.5167C>T (p.Pro1723Ser) c.5146C>T (p.Pro1716Ser) c.5053C>T (p.Pro1685Ser) c.3607C>T (p.Pro1203Ser) | gnomAD v4 |
8 | g.41933185G>C | CA371063797 | KAT6A | c.5035C>G (p.Pro1679Ala) c.5041C>G (p.Pro1681Ala) c.3716C>G c.5167C>G (p.Pro1723Ala) c.5146C>G (p.Pro1716Ala) c.5053C>G (p.Pro1685Ala) c.3607C>G (p.Pro1203Ala) | |
8 | g.41933185G>T | CA371063798 | KAT6A | c.5035C>A (p.Pro1679Thr) c.5041C>A (p.Pro1681Thr) c.3716C>A c.5167C>A (p.Pro1723Thr) c.5146C>A (p.Pro1716Thr) c.5053C>A (p.Pro1685Thr) c.3607C>A (p.Pro1203Thr) | gnomAD v4 |
8 | g.41933192_41933194del | CA2687076944 | KAT6A | c.5033_5035del (p.Gln1678del) c.5039_5041del (p.Gln1680del) c.3714_3716del c.5165_5167del (p.Gln1722del) c.5144_5146del (p.Gln1715del) c.5051_5053del (p.Gln1684del) c.3605_3607del (p.Gln1202del) | gnomAD v4 |
8 | g.41933186C>A | CA371063799 | KAT6A | c.5034G>T (p.Gln1678His) c.5040G>T (p.Gln1680His) c.3715G>T c.5166G>T (p.Gln1722His) c.5145G>T (p.Gln1715His) c.5052G>T (p.Gln1684His) c.3606G>T (p.Gln1202His) | |
8 | g.41933186C>G | CA371063800 | KAT6A | c.5034G>C (p.Gln1678His) c.5040G>C (p.Gln1680His) c.3715G>C c.5166G>C (p.Gln1722His) c.5145G>C (p.Gln1715His) c.5052G>C (p.Gln1684His) c.3606G>C (p.Gln1202His) | |
8 | g.41933186C>T | CA460783605 | KAT6A | c.5034G>A (p.Gln1678=) c.5040G>A (p.Gln1680=) c.3715G>A c.5166G>A (p.Gln1722=) c.5145G>A (p.Gln1715=) c.5052G>A (p.Gln1684=) c.3606G>A (p.Gln1202=) | gnomAD v4 |
8 | g.41933186_41933198delinsCTGCTGCTGGGGT | CA1779195804 | KAT6A | c.5022_5034delinsACCCCAGCAGCAG (p.Pro1674=) c.5028_5040delinsACCCCAGCAGCAG (p.Pro1676=) c.3703_3715delinsACCCCAGCAGCAG c.5154_5166delinsACCCCAGCAGCAG (p.Pro1718=) c.5133_5145delinsACCCCAGCAGCAG (p.Pro1711=) c.5040_5052delinsACCCCAGCAGCAG (p.Pro1680=) c.3594_3606delinsACCCCAGCAGCAG (p.Pro1198=) | |
8 | g.41933187T>A | CA371063803 | KAT6A | c.5033A>T (p.Gln1678Leu) c.5039A>T (p.Gln1680Leu) c.3714A>T c.5165A>T (p.Gln1722Leu) c.5144A>T (p.Gln1715Leu) c.5051A>T (p.Gln1684Leu) c.3605A>T (p.Gln1202Leu) | |
8 | g.41933187T>C | CA371063802 | KAT6A | c.5033A>G (p.Gln1678Arg) c.5039A>G (p.Gln1680Arg) c.3714A>G c.5165A>G (p.Gln1722Arg) c.5144A>G (p.Gln1715Arg) c.5051A>G (p.Gln1684Arg) c.3605A>G (p.Gln1202Arg) | |
8 | g.41933187T>G | CA371063801 | KAT6A | c.5033A>C (p.Gln1678Pro) c.5039A>C (p.Gln1680Pro) c.3714A>C c.5165A>C (p.Gln1722Pro) c.5144A>C (p.Gln1715Pro) c.5051A>C (p.Gln1684Pro) c.3605A>C (p.Gln1202Pro) | gnomAD v4 |
8 | g.41933187_41933198del | CA851858053 | KAT6A | c.5022_5033del (p.Pro1675_Gln1678del) c.5028_5039del (p.Pro1677_Gln1680del) c.3703_3714del c.5154_5165del (p.Pro1719_Gln1722del) c.5133_5144del (p.Pro1712_Gln1715del) c.5040_5051del (p.Pro1681_Gln1684del) c.3594_3605del (p.Pro1199_Gln1202del) | ClinVar dbSNP gnomAD v4 |
8 | g.41933188G>A | CA371063804 | KAT6A | c.5032C>T (p.Gln1678Ter) c.5038C>T (p.Gln1680Ter) c.5032C>T c.3713C>T c.5164C>T (p.Gln1722Ter) c.5143C>T (p.Gln1715Ter) c.5050C>T (p.Gln1684Ter) c.3604C>T (p.Gln1202Ter) | gnomAD v4 |
8 | g.41933188G>C | CA175938844 | KAT6A | c.5032C>G (p.Gln1678Glu) c.5038C>G (p.Gln1680Glu) c.5032C>G c.3713C>G c.5164C>G (p.Gln1722Glu) c.5143C>G (p.Gln1715Glu) c.5050C>G (p.Gln1684Glu) c.3604C>G (p.Gln1202Glu) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.41933188G= | CA1779195805 | KAT6A | c.5032C= (p.Gln1678=) c.5038C= (p.Gln1680=) c.5032C= c.3713C= c.5164C= (p.Gln1722=) c.5143C= (p.Gln1715=) c.5050C= (p.Gln1684=) c.3604C= (p.Gln1202=) | |
8 | g.41933188G>T | CA371063805 | KAT6A | c.5032C>A (p.Gln1678Lys) c.5038C>A (p.Gln1680Lys) c.5032C>A c.3713C>A c.5164C>A (p.Gln1722Lys) c.5143C>A (p.Gln1715Lys) c.5050C>A (p.Gln1684Lys) c.3604C>A (p.Gln1202Lys) | gnomAD v4 |
8 | g.41933189C>A | CA371063806 | KAT6A | c.5031G>T (p.Gln1677His) c.5037G>T (p.Gln1679His) c.3712G>T c.5163G>T (p.Gln1721His) c.5142G>T (p.Gln1714His) c.5049G>T (p.Gln1683His) c.3603G>T (p.Gln1201His) | |
8 | g.41933189C>G | CA371063807 | KAT6A | c.5031G>C (p.Gln1677His) c.5037G>C (p.Gln1679His) c.3712G>C c.5163G>C (p.Gln1721His) c.5142G>C (p.Gln1714His) c.5049G>C (p.Gln1683His) c.3603G>C (p.Gln1201His) | |
8 | g.41933189C>T | CA460783608 | KAT6A | c.5031G>A (p.Gln1677=) c.5037G>A (p.Gln1679=) c.3712G>A c.5163G>A (p.Gln1721=) c.5142G>A (p.Gln1714=) c.5049G>A (p.Gln1683=) c.3603G>A (p.Gln1201=) | |
8 | g.41933190T>A | CA371063808 | KAT6A | c.5030A>T (p.Gln1677Leu) c.5036A>T (p.Gln1679Leu) c.3711A>T c.5162A>T (p.Gln1721Leu) c.5141A>T (p.Gln1714Leu) c.5048A>T (p.Gln1683Leu) c.3602A>T (p.Gln1201Leu) | |
8 | g.41933190T>C | CA371063809 | KAT6A | c.5030A>G (p.Gln1677Arg) c.5036A>G (p.Gln1679Arg) c.3711A>G c.5162A>G (p.Gln1721Arg) c.5141A>G (p.Gln1714Arg) c.5048A>G (p.Gln1683Arg) c.3602A>G (p.Gln1201Arg) | dbSNP gnomAD v2 |
8 | g.41933190T>G | CA371063810 | KAT6A | c.5030A>C (p.Gln1677Pro) c.5036A>C (p.Gln1679Pro) c.3711A>C c.5162A>C (p.Gln1721Pro) c.5141A>C (p.Gln1714Pro) c.5048A>C (p.Gln1683Pro) c.3602A>C (p.Gln1201Pro) | |
8 | g.41933190T= | CA1779195806 | KAT6A | c.5030A= (p.Gln1677=) c.5036A= (p.Gln1679=) c.3711A= c.5162A= (p.Gln1721=) c.5141A= (p.Gln1714=) c.5048A= (p.Gln1683=) c.3602A= (p.Gln1201=) | |
8 | g.41933191G>A | CA371063811 | KAT6A | c.5029C>T (p.Gln1677Ter) c.5035C>T (p.Gln1679Ter) c.3710C>T c.5161C>T (p.Gln1721Ter) c.5140C>T (p.Gln1714Ter) c.5047C>T (p.Gln1683Ter) c.3601C>T (p.Gln1201Ter) | |
8 | g.41933191G>C | CA371063812 | KAT6A | c.5029C>G (p.Gln1677Glu) c.5035C>G (p.Gln1679Glu) c.3710C>G c.5161C>G (p.Gln1721Glu) c.5140C>G (p.Gln1714Glu) c.5047C>G (p.Gln1683Glu) c.3601C>G (p.Gln1201Glu) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.41933191G= | CA1779195807 | KAT6A | c.5029C= (p.Gln1677=) c.5035C= (p.Gln1679=) c.3710C= c.5161C= (p.Gln1721=) c.5140C= (p.Gln1714=) c.5047C= (p.Gln1683=) c.3601C= (p.Gln1201=) | |
8 | g.41933191G>T | CA371063813 | KAT6A | c.5029C>A (p.Gln1677Lys) c.5035C>A (p.Gln1679Lys) c.3710C>A c.5161C>A (p.Gln1721Lys) c.5140C>A (p.Gln1714Lys) c.5047C>A (p.Gln1683Lys) c.3601C>A (p.Gln1201Lys) | |
8 | g.41933192C>A | CA371063814 | KAT6A | c.5028G>T (p.Gln1676His) c.5034G>T (p.Gln1678His) c.3709G>T c.5160G>T (p.Gln1720His) c.5139G>T (p.Gln1713His) c.5046G>T (p.Gln1682His) c.3600G>T (p.Gln1200His) | gnomAD v4 |
8 | g.41933192C= | CA1779195808 | KAT6A | c.5028G= (p.Gln1676=) c.5034G= (p.Gln1678=) c.3709G= c.5160G= (p.Gln1720=) c.5139G= (p.Gln1713=) c.5046G= (p.Gln1682=) c.3600G= (p.Gln1200=) | |
8 | g.41933192C>G | CA371063815 | KAT6A | c.5028G>C (p.Gln1676His) c.5034G>C (p.Gln1678His) c.3709G>C c.5160G>C (p.Gln1720His) c.5139G>C (p.Gln1713His) c.5046G>C (p.Gln1682His) c.3600G>C (p.Gln1200His) | |
8 | g.41933192C>T | CA460783612 | KAT6A | c.5028G>A (p.Gln1676=) c.5034G>A (p.Gln1678=) c.3709G>A c.5160G>A (p.Gln1720=) c.5139G>A (p.Gln1713=) c.5046G>A (p.Gln1682=) c.3600G>A (p.Gln1200=) | dbSNP |
8 | g.41933193T>A | CA371063817 | KAT6A | c.5027A>T (p.Gln1676Leu) c.5033A>T (p.Gln1678Leu) c.3708A>T c.5159A>T (p.Gln1720Leu) c.5138A>T (p.Gln1713Leu) c.5045A>T (p.Gln1682Leu) c.3599A>T (p.Gln1200Leu) | |
8 | g.41933193T>C | CA371063818 | KAT6A | c.5027A>G (p.Gln1676Arg) c.5033A>G (p.Gln1678Arg) c.3708A>G c.5159A>G (p.Gln1720Arg) c.5138A>G (p.Gln1713Arg) c.5045A>G (p.Gln1682Arg) c.3599A>G (p.Gln1200Arg) | |
8 | g.41933193T>G | CA371063816 | KAT6A | c.5027A>C (p.Gln1676Pro) c.5033A>C (p.Gln1678Pro) c.3708A>C c.5159A>C (p.Gln1720Pro) c.5138A>C (p.Gln1713Pro) c.5045A>C (p.Gln1682Pro) c.3599A>C (p.Gln1200Pro) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
8 | g.41933193T= | CA1779195809 | KAT6A | c.5027A= (p.Gln1676=) c.5033A= (p.Gln1678=) c.3708A= c.5159A= (p.Gln1720=) c.5138A= (p.Gln1713=) c.5045A= (p.Gln1682=) c.3599A= (p.Gln1200=) | |
8 | g.41933194G>A | CA371063819 | KAT6A | c.5026C>T (p.Gln1676Ter) c.5032C>T (p.Gln1678Ter) c.3707C>T c.5158C>T (p.Gln1720Ter) c.5137C>T (p.Gln1713Ter) c.5044C>T (p.Gln1682Ter) c.3598C>T (p.Gln1200Ter) | |
8 | g.41933194G>C | CA371063820 | KAT6A | c.5026C>G (p.Gln1676Glu) c.5032C>G (p.Gln1678Glu) c.3707C>G c.5158C>G (p.Gln1720Glu) c.5137C>G (p.Gln1713Glu) c.5044C>G (p.Gln1682Glu) c.3598C>G (p.Gln1200Glu) | |
8 | g.41933194G>T | CA371063821 | KAT6A | c.5026C>A (p.Gln1676Lys) c.5032C>A (p.Gln1678Lys) c.3707C>A c.5158C>A (p.Gln1720Lys) c.5137C>A (p.Gln1713Lys) c.5044C>A (p.Gln1682Lys) c.3598C>A (p.Gln1200Lys) | gnomAD v4 |
8 | g.41933197del | CA2687076945 | KAT6A | c.5026del (p.Gln1676SerfsTer?) c.5032del (p.Gln1678SerfsTer?) c.3707del c.5158del (p.Gln1720SerfsTer?) c.5137del (p.Gln1713SerfsTer?) c.5044del (p.Gln1682SerfsTer?) c.3598del (p.Gln1200SerfsTer?) | gnomAD v4 |
8 | g.41933195G>A | CA460783617 | KAT6A | c.5025C>T (p.Pro1675=) c.5031C>T (p.Pro1677=) c.3706C>T c.5157C>T (p.Pro1719=) c.5136C>T (p.Pro1712=) c.5043C>T (p.Pro1681=) c.3597C>T (p.Pro1199=) | |
8 | g.41933195G>C | CA460783615 | KAT6A | c.5025C>G (p.Pro1675=) c.5031C>G (p.Pro1677=) c.3706C>G c.5157C>G (p.Pro1719=) c.5136C>G (p.Pro1712=) c.5043C>G (p.Pro1681=) c.3597C>G (p.Pro1199=) | |
8 | g.41933195G= | CA1779195810 | KAT6A | c.5025C= (p.Pro1675=) c.5031C= (p.Pro1677=) c.3706C= c.5157C= (p.Pro1719=) c.5136C= (p.Pro1712=) c.5043C= (p.Pro1681=) c.3597C= (p.Pro1199=) | |
8 | g.41933195G>T | CA460783616 | KAT6A | c.5025C>A (p.Pro1675=) c.5031C>A (p.Pro1677=) c.3706C>A c.5157C>A (p.Pro1719=) c.5136C>A (p.Pro1712=) c.5043C>A (p.Pro1681=) c.3597C>A (p.Pro1199=) | gnomAD v4 |
8 | g.41933196G>A | CA371063822 | KAT6A | c.5024C>T (p.Pro1675Leu) c.5030C>T (p.Pro1677Leu) c.3705C>T c.5156C>T (p.Pro1719Leu) c.5135C>T (p.Pro1712Leu) c.5042C>T (p.Pro1681Leu) c.3596C>T (p.Pro1199Leu) | dbSNP |
8 | g.41933196G>C | CA371063823 | KAT6A | c.5024C>G (p.Pro1675Arg) c.5030C>G (p.Pro1677Arg) c.3705C>G c.5156C>G (p.Pro1719Arg) c.5135C>G (p.Pro1712Arg) c.5042C>G (p.Pro1681Arg) c.3596C>G (p.Pro1199Arg) | |
8 | g.41933196G= | CA1779195811 | KAT6A | c.5024C= (p.Pro1675=) c.5030C= (p.Pro1677=) c.3705C= c.5156C= (p.Pro1719=) c.5135C= (p.Pro1712=) c.5042C= (p.Pro1681=) c.3596C= (p.Pro1199=) | |
8 | g.41933196G>T | CA371063824 | KAT6A | c.5024C>A (p.Pro1675His) c.5030C>A (p.Pro1677His) c.3705C>A c.5156C>A (p.Pro1719His) c.5135C>A (p.Pro1712His) c.5042C>A (p.Pro1681His) c.3596C>A (p.Pro1199His) | |
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.41933197G>A | CA371063825 | KAT6A | c.5023C>T (p.Pro1675Ser) c.5029C>T (p.Pro1677Ser) c.3704C>T c.5155C>T (p.Pro1719Ser) c.5134C>T (p.Pro1712Ser) c.5041C>T (p.Pro1681Ser) c.3595C>T (p.Pro1199Ser) | gnomAD v4 |
8 | g.41933197G>C | CA371063827 | KAT6A | c.5023C>G (p.Pro1675Ala) c.5029C>G (p.Pro1677Ala) c.3704C>G c.5155C>G (p.Pro1719Ala) c.5134C>G (p.Pro1712Ala) c.5041C>G (p.Pro1681Ala) c.3595C>G (p.Pro1199Ala) | ClinVar dbSNP |
8 | g.41933197G= | CA1779195812 | KAT6A | c.5023C= (p.Pro1675=) c.5029C= (p.Pro1677=) c.3704C= c.5155C= (p.Pro1719=) c.5134C= (p.Pro1712=) c.5041C= (p.Pro1681=) c.3595C= (p.Pro1199=) | |
8 | g.41933197G>T | CA371063826 | KAT6A | c.5023C>A (p.Pro1675Thr) c.5029C>A (p.Pro1677Thr) c.3704C>A c.5155C>A (p.Pro1719Thr) c.5134C>A (p.Pro1712Thr) c.5041C>A (p.Pro1681Thr) c.3595C>A (p.Pro1199Thr) | |
8 | g.41933198T>A | CA460783622 | KAT6A | c.5022A>T (p.Pro1674=) c.5028A>T (p.Pro1676=) c.3703A>T c.5154A>T (p.Pro1718=) c.5133A>T (p.Pro1711=) c.5040A>T (p.Pro1680=) c.3594A>T (p.Pro1198=) | |
8 | g.41933198T>C | CA460783623 | KAT6A | c.5022A>G (p.Pro1674=) c.5028A>G (p.Pro1676=) c.3703A>G c.5154A>G (p.Pro1718=) c.5133A>G (p.Pro1711=) c.5040A>G (p.Pro1680=) c.3594A>G (p.Pro1198=) | |
8 | g.41933198T>G | CA4729376 | KAT6A | c.5022A>C (p.Pro1674=) c.5028A>C (p.Pro1676=) c.3703A>C c.5154A>C (p.Pro1718=) c.5133A>C (p.Pro1711=) c.5040A>C (p.Pro1680=) c.3594A>C (p.Pro1198=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.41933198T= | CA1779195813 | KAT6A | c.5022A= (p.Pro1674=) c.5028A= (p.Pro1676=) c.3703A= c.5154A= (p.Pro1718=) c.5133A= (p.Pro1711=) c.5040A= (p.Pro1680=) c.3594A= (p.Pro1198=) | |
8 | g.41933199G>A | CA371063828 | KAT6A | c.5021C>T (p.Pro1674Leu) c.5027C>T (p.Pro1676Leu) c.3702C>T c.5153C>T (p.Pro1718Leu) c.5132C>T (p.Pro1711Leu) c.5039C>T (p.Pro1680Leu) c.3593C>T (p.Pro1198Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.41933199G>C | CA371063829 | KAT6A | c.5021C>G (p.Pro1674Arg) c.5027C>G (p.Pro1676Arg) c.3702C>G c.5153C>G (p.Pro1718Arg) c.5132C>G (p.Pro1711Arg) c.5039C>G (p.Pro1680Arg) c.3593C>G (p.Pro1198Arg) | |
8 | g.41933199G= | CA1779195814 | KAT6A | c.5021C= (p.Pro1674=) c.5027C= (p.Pro1676=) c.3702C= c.5153C= (p.Pro1718=) c.5132C= (p.Pro1711=) c.5039C= (p.Pro1680=) c.3593C= (p.Pro1198=) | |
8 | g.41933199G>T | CA371063830 | KAT6A | c.5021C>A (p.Pro1674Gln) c.5027C>A (p.Pro1676Gln) c.3702C>A c.5153C>A (p.Pro1718Gln) c.5132C>A (p.Pro1711Gln) c.5039C>A (p.Pro1680Gln) c.3593C>A (p.Pro1198Gln) | gnomAD v4 |
8 | g.41933200G>A | CA371063831 | KAT6A | c.5020C>T (p.Pro1674Ser) c.5026C>T (p.Pro1676Ser) c.3701C>T c.5152C>T (p.Pro1718Ser) c.5131C>T (p.Pro1711Ser) c.5038C>T (p.Pro1680Ser) c.3592C>T (p.Pro1198Ser) | |
8 | g.41933200G>C | CA175938854 | KAT6A | c.5020C>G (p.Pro1674Ala) c.5026C>G (p.Pro1676Ala) c.3701C>G c.5152C>G (p.Pro1718Ala) c.5131C>G (p.Pro1711Ala) c.5038C>G (p.Pro1680Ala) c.3592C>G (p.Pro1198Ala) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.41933200G= | CA1779195815 | KAT6A | c.5020C= (p.Pro1674=) c.5026C= (p.Pro1676=) c.3701C= c.5152C= (p.Pro1718=) c.5131C= (p.Pro1711=) c.5038C= (p.Pro1680=) c.3592C= (p.Pro1198=) | |
8 | g.41933200G>T | CA371063832 | KAT6A | c.5020C>A (p.Pro1674Thr) c.5026C>A (p.Pro1676Thr) c.3701C>A c.5152C>A (p.Pro1718Thr) c.5131C>A (p.Pro1711Thr) c.5038C>A (p.Pro1680Thr) c.3592C>A (p.Pro1198Thr) | 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 |