Chr Mutation (hg38) CAid Gene Transcript Linkouts
8g.41933126_41933164delCA2687076925KAT6Ac.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
8g.41933120_41933183delinsGGGCTGCTGCTGGGGAGGGGGTGGGGGTGGAGGCTGCTGGGGCTGAGGCTGCGGCTGCTGTTGCCA1779195763KAT6Ac.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=)
8g.41933129_41933158delCA2687076926KAT6Ac.5070_5099del (p.Pro1691_Pro1700del)
c.5076_5105del (p.Pro1693_Pro1702del)
c.3751_3780del
c.5202_5231del (p.Pro1735_Pro1744del)
c.5181_5210del (p.Pro1728_Pro1737del)
c.5088_5117del (p.Pro1697_Pro1706del)
c.3642_3671del (p.Pro1215_Pro1224del)
 gnomAD v4
8g.41933135_41933197delCA581928328KAT6Ac.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
8g.41933135_41933161delCA2579153671KAT6Ac.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
8g.41933138_41933152delCA2579153672KAT6Ac.5073_5087del (p.Pro1692_Pro1696del)
c.5079_5093del (p.Pro1694_Pro1698del)
c.3754_3768del
c.5205_5219del (p.Pro1736_Pro1740del)
c.5184_5198del (p.Pro1729_Pro1733del)
c.5091_5105del (p.Pro1698_Pro1702del)
c.3645_3659del (p.Pro1216_Pro1220del)
8g.41933156_41933209delCA2687076939KAT6Ac.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
8g.41933147_41933151delCA2579153674KAT6Ac.5070_5074del (p.Pro1692ThrfsTer13)
c.5076_5080del (p.Pro1694ThrfsTer13)
c.3751_3755del
c.5202_5206del (p.Pro1736ThrfsTer13)
c.5181_5185del (p.Pro1729ThrfsTer13)
c.5088_5092del (p.Pro1698ThrfsTer13)
c.3642_3646del (p.Pro1216ThrfsTer13)
8g.41933151G>ACA371063715KAT6Ac.5069C>T (p.Pro1690Leu)
c.5075C>T (p.Pro1692Leu)
c.3750C>T
c.5201C>T (p.Pro1734Leu)
c.5180C>T (p.Pro1727Leu)
c.5087C>T (p.Pro1696Leu)
c.3641C>T (p.Pro1214Leu)
8g.41933151G>CCA371063716KAT6Ac.5069C>G (p.Pro1690Arg)
c.5075C>G (p.Pro1692Arg)
c.3750C>G
c.5201C>G (p.Pro1734Arg)
c.5180C>G (p.Pro1727Arg)
c.5087C>G (p.Pro1696Arg)
c.3641C>G (p.Pro1214Arg)
8g.41933151G>TCA371063717KAT6Ac.5069C>A (p.Pro1690His)
c.5075C>A (p.Pro1692His)
c.3750C>A
c.5201C>A (p.Pro1734His)
c.5180C>A (p.Pro1727His)
c.5087C>A (p.Pro1696His)
c.3641C>A (p.Pro1214His)
8g.41933152G>ACA371063720KAT6Ac.5068C>T (p.Pro1690Ser)
c.5074C>T (p.Pro1692Ser)
c.3749C>T
c.5200C>T (p.Pro1734Ser)
c.5179C>T (p.Pro1727Ser)
c.5086C>T (p.Pro1696Ser)
c.3640C>T (p.Pro1214Ser)
 ClinVar
8g.41933152G>CCA371063719KAT6Ac.5068C>G (p.Pro1690Ala)
c.5074C>G (p.Pro1692Ala)
c.3749C>G
c.5200C>G (p.Pro1734Ala)
c.5179C>G (p.Pro1727Ala)
c.5086C>G (p.Pro1696Ala)
c.3640C>G (p.Pro1214Ala)
8g.41933152G>TCA371063718KAT6Ac.5068C>A (p.Pro1690Thr)
c.5074C>A (p.Pro1692Thr)
c.3749C>A
c.5200C>A (p.Pro1734Thr)
c.5179C>A (p.Pro1727Thr)
c.5086C>A (p.Pro1696Thr)
c.3640C>A (p.Pro1214Thr)
 gnomAD v4
8g.41933153C>ACA371063721KAT6Ac.5067G>T (p.Gln1689His)
c.5073G>T (p.Gln1691His)
c.3748G>T
c.5199G>T (p.Gln1733His)
c.5178G>T (p.Gln1726His)
c.5085G>T (p.Gln1695His)
c.3639G>T (p.Gln1213His)
8g.41933153C=CA1779195782KAT6Ac.5067G= (p.Gln1689=)
c.5073G= (p.Gln1691=)
c.3748G=
c.5199G= (p.Gln1733=)
c.5178G= (p.Gln1726=)
c.5085G= (p.Gln1695=)
c.3639G= (p.Gln1213=)
8g.41933153C>GCA371063722KAT6Ac.5067G>C (p.Gln1689His)
c.5073G>C (p.Gln1691His)
c.3748G>C
c.5199G>C (p.Gln1733His)
c.5178G>C (p.Gln1726His)
c.5085G>C (p.Gln1695His)
c.3639G>C (p.Gln1213His)
 ClinVar dbSNP gnomAD v3 gnomAD v4
8g.41933153C>TCA460783568KAT6Ac.5067G>A (p.Gln1689=)
c.5073G>A (p.Gln1691=)
c.3748G>A
c.5199G>A (p.Gln1733=)
c.5178G>A (p.Gln1726=)
c.5085G>A (p.Gln1695=)
c.3639G>A (p.Gln1213=)
 dbSNP gnomAD v3 gnomAD v4
8g.41933154T>ACA371063723KAT6Ac.5066A>T (p.Gln1689Leu)
c.5072A>T (p.Gln1691Leu)
c.3747A>T
c.5198A>T (p.Gln1733Leu)
c.5177A>T (p.Gln1726Leu)
c.5084A>T (p.Gln1695Leu)
c.3638A>T (p.Gln1213Leu)
8g.41933154T>CCA371063724KAT6Ac.5066A>G (p.Gln1689Arg)
c.5072A>G (p.Gln1691Arg)
c.3747A>G
c.5198A>G (p.Gln1733Arg)
c.5177A>G (p.Gln1726Arg)
c.5084A>G (p.Gln1695Arg)
c.3638A>G (p.Gln1213Arg)
8g.41933154T>GCA371063725KAT6Ac.5066A>C (p.Gln1689Pro)
c.5072A>C (p.Gln1691Pro)
c.3747A>C
c.5198A>C (p.Gln1733Pro)
c.5177A>C (p.Gln1726Pro)
c.5084A>C (p.Gln1695Pro)
c.3638A>C (p.Gln1213Pro)
 gnomAD v4
8g.41933154T=CA1779195783KAT6Ac.5066A= (p.Gln1689=)
c.5072A= (p.Gln1691=)
c.3747A=
c.5198A= (p.Gln1733=)
c.5177A= (p.Gln1726=)
c.5084A= (p.Gln1695=)
c.3638A= (p.Gln1213=)
8g.41933155G>ACA371063726KAT6Ac.5065C>T (p.Gln1689Ter)
c.5071C>T (p.Gln1691Ter)
c.3746C>T
c.5197C>T (p.Gln1733Ter)
c.5176C>T (p.Gln1726Ter)
c.5083C>T (p.Gln1695Ter)
c.3637C>T (p.Gln1213Ter)
 gnomAD v4
8g.41933155G>CCA371063727KAT6Ac.5065C>G (p.Gln1689Glu)
c.5071C>G (p.Gln1691Glu)
c.3746C>G
c.5197C>G (p.Gln1733Glu)
c.5176C>G (p.Gln1726Glu)
c.5083C>G (p.Gln1695Glu)
c.3637C>G (p.Gln1213Glu)
8g.41933155G>TCA371063728KAT6Ac.5065C>A (p.Gln1689Lys)
c.5071C>A (p.Gln1691Lys)
c.3746C>A
c.5197C>A (p.Gln1733Lys)
c.5176C>A (p.Gln1726Lys)
c.5083C>A (p.Gln1695Lys)
c.3637C>A (p.Gln1213Lys)
8g.41933155_41933156delinsGCCA1779195784KAT6Ac.5064_5065delinsGC (p.Gln1688=)
c.5070_5071delinsGC (p.Gln1690=)
c.3745_3746delinsGC
c.5196_5197delinsGC (p.Gln1732=)
c.5175_5176delinsGC (p.Gln1725=)
c.5082_5083delinsGC (p.Gln1694=)
c.3636_3637delinsGC (p.Gln1212=)
8g.41933159_41933164dupCA4729365KAT6Ac.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
8g.41933156delCA460783569KAT6Ac.5064del (p.Gln1688HisfsTer20)
c.5070del (p.Gln1690HisfsTer20)
c.3745del
c.5196del (p.Gln1732HisfsTer20)
c.5175del (p.Gln1725HisfsTer20)
c.5082del (p.Gln1694HisfsTer20)
c.3636del (p.Gln1212HisfsTer20)
 dbSNP
8g.41933156C>ACA371063729KAT6Ac.5064G>T (p.Gln1688His)
c.5070G>T (p.Gln1690His)
c.3745G>T
c.5196G>T (p.Gln1732His)
c.5175G>T (p.Gln1725His)
c.5082G>T (p.Gln1694His)
c.3636G>T (p.Gln1212His)
 dbSNP gnomAD v2 gnomAD v4
8g.41933156C=CA1779195785KAT6Ac.5064G= (p.Gln1688=)
c.5070G= (p.Gln1690=)
c.3745G=
c.5196G= (p.Gln1732=)
c.5175G= (p.Gln1725=)
c.5082G= (p.Gln1694=)
c.3636G= (p.Gln1212=)
8g.41933156C>GCA371063730KAT6Ac.5064G>C (p.Gln1688His)
c.5070G>C (p.Gln1690His)
c.3745G>C
c.5196G>C (p.Gln1732His)
c.5175G>C (p.Gln1725His)
c.5082G>C (p.Gln1694His)
c.3636G>C (p.Gln1212His)
8g.41933156C>TCA4729366KAT6Ac.5064G>A (p.Gln1688=)
c.5070G>A (p.Gln1690=)
c.3745G>A
c.5196G>A (p.Gln1732=)
c.5175G>A (p.Gln1725=)
c.5082G>A (p.Gln1694=)
c.3636G>A (p.Gln1212=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
8g.41933157delCA371063731KAT6Ac.5063del (p.Gln1688ArgfsTer20)
c.5069del (p.Gln1690ArgfsTer20)
c.3744del
c.5195del (p.Gln1732ArgfsTer20)
c.5174del (p.Gln1725ArgfsTer20)
c.5081del (p.Gln1694ArgfsTer20)
c.3635del (p.Gln1212ArgfsTer20)
8g.41933157T>ACA371063733KAT6Ac.5063A>T (p.Gln1688Leu)
c.5069A>T (p.Gln1690Leu)
c.3744A>T
c.5195A>T (p.Gln1732Leu)
c.5174A>T (p.Gln1725Leu)
c.5081A>T (p.Gln1694Leu)
c.3635A>T (p.Gln1212Leu)
8g.41933157T>CCA371063732KAT6Ac.5063A>G (p.Gln1688Arg)
c.5069A>G (p.Gln1690Arg)
c.3744A>G
c.5195A>G (p.Gln1732Arg)
c.5174A>G (p.Gln1725Arg)
c.5081A>G (p.Gln1694Arg)
c.3635A>G (p.Gln1212Arg)
8g.41933157T>GCA371063734KAT6Ac.5063A>C (p.Gln1688Pro)
c.5069A>C (p.Gln1690Pro)
c.3744A>C
c.5195A>C (p.Gln1732Pro)
c.5174A>C (p.Gln1725Pro)
c.5081A>C (p.Gln1694Pro)
c.3635A>C (p.Gln1212Pro)
 gnomAD v3 gnomAD v4
8g.41933158G>ACA371063736KAT6Ac.5062C>T (p.Gln1688Ter)
c.5068C>T (p.Gln1690Ter)
c.3743C>T
c.5194C>T (p.Gln1732Ter)
c.5173C>T (p.Gln1725Ter)
c.5080C>T (p.Gln1694Ter)
c.3634C>T (p.Gln1212Ter)
8g.41933158G>CCA371063735KAT6Ac.5062C>G (p.Gln1688Glu)
c.5068C>G (p.Gln1690Glu)
c.3743C>G
c.5194C>G (p.Gln1732Glu)
c.5173C>G (p.Gln1725Glu)
c.5080C>G (p.Gln1694Glu)
c.3634C>G (p.Gln1212Glu)
8g.41933158G>TCA371063737KAT6Ac.5062C>A (p.Gln1688Lys)
c.5068C>A (p.Gln1690Lys)
c.3743C>A
c.5194C>A (p.Gln1732Lys)
c.5173C>A (p.Gln1725Lys)
c.5080C>A (p.Gln1694Lys)
c.3634C>A (p.Gln1212Lys)
 gnomAD v4
8g.41933159G>ACA460783570KAT6Ac.5061C>T (p.Pro1687=)
c.5067C>T (p.Pro1689=)
c.3742C>T
c.5193C>T (p.Pro1731=)
c.5172C>T (p.Pro1724=)
c.5079C>T (p.Pro1693=)
c.3633C>T (p.Pro1211=)
 ClinVar gnomAD v4
8g.41933159G>CCA460783571KAT6Ac.5061C>G (p.Pro1687=)
c.5067C>G (p.Pro1689=)
c.3742C>G
c.5193C>G (p.Pro1731=)
c.5172C>G (p.Pro1724=)
c.5079C>G (p.Pro1693=)
c.3633C>G (p.Pro1211=)
8g.41933159G>TCA460783572KAT6Ac.5061C>A (p.Pro1687=)
c.5067C>A (p.Pro1689=)
c.3742C>A
c.5193C>A (p.Pro1731=)
c.5172C>A (p.Pro1724=)
c.5079C>A (p.Pro1693=)
c.3633C>A (p.Pro1211=)
 gnomAD v4
8g.41933160G>ACA4729367KAT6Ac.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
8g.41933160G>CCA371063739KAT6Ac.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)
8g.41933160G=CA1779195786KAT6Ac.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=)
8g.41933160G>TCA371063738KAT6Ac.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)
8g.41933165_41933170dupCA2687076940KAT6Ac.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
8g.41933161G>ACA371063740KAT6Ac.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
8g.41933161G>CCA371063741KAT6Ac.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)
8g.41933161G>TCA371063742KAT6Ac.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
8g.41933162C>ACA371063743KAT6Ac.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
8g.41933162C=CA1779195787KAT6Ac.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=)
8g.41933162C>GCA371063744KAT6Ac.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)
8g.41933162C>TCA4729368KAT6Ac.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
8g.41933163T>ACA371063745KAT6Ac.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)
8g.41933163T>CCA371063746KAT6Ac.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
8g.41933163T>GCA371063747KAT6Ac.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
8g.41933163T=CA1779195788KAT6Ac.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=)
8g.41933164G>ACA371063748KAT6Ac.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)
8g.41933164G>CCA371063749KAT6Ac.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)
8g.41933164G>TCA371063750KAT6Ac.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)
8g.41933165A=CA1779195789KAT6Ac.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=)
8g.41933165A>CCA460783577KAT6Ac.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=)
8g.41933165A>GCA460783578KAT6Ac.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=)
8g.41933165A>TCA460783579KAT6Ac.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=)
8g.41933166G>ACA371063751KAT6Ac.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
8g.41933166G>CCA371063753KAT6Ac.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)
8g.41933166G=CA1779195791KAT6Ac.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=)
8g.41933166G>TCA371063752KAT6Ac.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)
8g.41933172_41933177dupCA851857985KAT6Ac.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
8g.41933172_41933177delCA2579153677KAT6Ac.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
8g.41933166_41933178delinsGGCTGCGGCTGCTCA1779195790KAT6Ac.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=)
8g.41933167G>ACA371063754KAT6Ac.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
8g.41933167G>CCA371063755KAT6Ac.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)
8g.41933167G>TCA371063756KAT6Ac.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
8g.41933168_41933179delCA581928329KAT6Ac.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
8g.41933168C>ACA371063757KAT6Ac.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)
8g.41933168C>GCA371063758KAT6Ac.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)
8g.41933168C>TCA460783581KAT6Ac.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=)
8g.41933168_41933180delinsCTGCGGCTGCTGTCA1779195792KAT6Ac.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=)
8g.41933169T>ACA371063759KAT6Ac.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)
8g.41933169T>CCA371063760KAT6Ac.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)
8g.41933169T>GCA371063761KAT6Ac.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)
8g.41933180_41933191delCA4729369KAT6Ac.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
8g.41933170G>ACA371063763KAT6Ac.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)
8g.41933170G>CCA371063762KAT6Ac.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)
8g.41933170G>TCA371063764KAT6Ac.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)
8g.41933175_41933237delCA2687076941KAT6Ac.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
8g.41933171C>ACA4729371KAT6Ac.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
8g.41933171C=CA1779195793KAT6Ac.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=)
8g.41933171C>GCA460783582KAT6Ac.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=)
8g.41933171C>TCA4729370KAT6Ac.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
8g.41933172G>ACA371063765KAT6Ac.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
8g.41933172G>CCA371063766KAT6Ac.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)
8g.41933172G=CA1779195794KAT6Ac.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=)
8g.41933172G>TCA371063767KAT6Ac.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
8g.41933172_41933175delinsGGCTCA1779195795KAT6Ac.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=)
8g.41933173G>ACA371063768KAT6Ac.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
8g.41933173G>CCA371063769KAT6Ac.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)
8g.41933173G>TCA371063770KAT6Ac.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
8g.41933177_41933179delCA1779195796KAT6Ac.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
8g.41933174_41933179delCA2687076942KAT6Ac.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
8g.41933174C>ACA371063771KAT6Ac.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)
8g.41933174C>GCA371063772KAT6Ac.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)
8g.41933174C>TCA460783584KAT6Ac.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
8g.41933175T>ACA371063775KAT6Ac.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)
8g.41933175T>CCA371063774KAT6Ac.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)
8g.41933175T>GCA371063773KAT6Ac.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)
8g.41933176G>ACA371063776KAT6Ac.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)
8g.41933176G>CCA371063777KAT6Ac.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)
8g.41933176G>TCA371063778KAT6Ac.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
8g.41933177C>ACA371063779KAT6Ac.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
8g.41933177C>GCA371063780KAT6Ac.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)
8g.41933177C>TCA460783587KAT6Ac.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
8g.41933178T>ACA371063781KAT6Ac.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)
8g.41933178T>CCA371063782KAT6Ac.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)
8g.41933178T>GCA371063783KAT6Ac.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)
8g.41933179G>ACA371063784KAT6Ac.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)
8g.41933179G>CCA371063785KAT6Ac.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
8g.41933179G>TCA371063786KAT6Ac.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
8g.41933180T>ACA371063787KAT6Ac.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)
8g.41933180T>CCA460783590KAT6Ac.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
8g.41933180T>GCA371063788KAT6Ac.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)
8g.41933180_41933192delinsTTGCGGCTGCTGCCA1779195797KAT6Ac.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=)
8g.41933181T>ACA371063790KAT6Ac.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
8g.41933181T>CCA371063791KAT6Ac.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)
8g.41933181T>GCA371063789KAT6Ac.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)
8g.41933181T=CA1779195798KAT6Ac.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=)
8g.41933183_41933194dupCA2580078464KAT6Ac.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
8g.41933183_41933194delCA851858039KAT6Ac.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
8g.41933182G>ACA371063793KAT6Ac.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
8g.41933182G>CCA371063792KAT6Ac.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)
8g.41933182G=CA1779195799KAT6Ac.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=)
8g.41933182G>TCA4729372KAT6Ac.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
8g.41933184_41933186delCA2687076943KAT6Ac.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
8g.41933183C>ACA460783597KAT6Ac.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
8g.41933183C=CA1779195800KAT6Ac.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=)
8g.41933183C>GCA460783598KAT6Ac.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
8g.41933183C>TCA4729373KAT6Ac.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
8g.41933183_41933195delinsCGGCTGCTGCTGGCA1779195801KAT6Ac.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=)
8g.41933184G>ACA4729374KAT6Ac.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
8g.41933184G>CCA371063794KAT6Ac.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)
8g.41933184G=CA1779195803KAT6Ac.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=)
8g.41933184G>TCA371063795KAT6Ac.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
8g.41933186_41933197delCA1779195802KAT6Ac.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
8g.41933185G>ACA371063796KAT6Ac.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
8g.41933185G>CCA371063797KAT6Ac.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)
8g.41933185G>TCA371063798KAT6Ac.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
8g.41933192_41933194delCA2687076944KAT6Ac.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
8g.41933186C>ACA371063799KAT6Ac.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)
8g.41933186C>GCA371063800KAT6Ac.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)
8g.41933186C>TCA460783605KAT6Ac.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
8g.41933186_41933198delinsCTGCTGCTGGGGTCA1779195804KAT6Ac.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=)
8g.41933187T>ACA371063803KAT6Ac.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)
8g.41933187T>CCA371063802KAT6Ac.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)
8g.41933187T>GCA371063801KAT6Ac.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
8g.41933187_41933198delCA851858053KAT6Ac.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
8g.41933188G>ACA371063804KAT6Ac.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
8g.41933188G>CCA175938844KAT6Ac.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
8g.41933188G=CA1779195805KAT6Ac.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=)
8g.41933188G>TCA371063805KAT6Ac.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
8g.41933189C>ACA371063806KAT6Ac.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)
8g.41933189C>GCA371063807KAT6Ac.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)
8g.41933189C>TCA460783608KAT6Ac.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=)
8g.41933190T>ACA371063808KAT6Ac.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)
8g.41933190T>CCA371063809KAT6Ac.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
8g.41933190T>GCA371063810KAT6Ac.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)
8g.41933190T=CA1779195806KAT6Ac.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=)
8g.41933191G>ACA371063811KAT6Ac.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)
8g.41933191G>CCA371063812KAT6Ac.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
8g.41933191G=CA1779195807KAT6Ac.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=)
8g.41933191G>TCA371063813KAT6Ac.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)
8g.41933192C>ACA371063814KAT6Ac.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
8g.41933192C=CA1779195808KAT6Ac.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=)
8g.41933192C>GCA371063815KAT6Ac.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)
8g.41933192C>TCA460783612KAT6Ac.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
8g.41933193T>ACA371063817KAT6Ac.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)
8g.41933193T>CCA371063818KAT6Ac.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)
8g.41933193T>GCA371063816KAT6Ac.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
8g.41933193T=CA1779195809KAT6Ac.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=)
8g.41933194G>ACA371063819KAT6Ac.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)
8g.41933194G>CCA371063820KAT6Ac.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)
8g.41933194G>TCA371063821KAT6Ac.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
8g.41933197delCA2687076945KAT6Ac.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
8g.41933195G>ACA460783617KAT6Ac.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=)
8g.41933195G>CCA460783615KAT6Ac.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=)
8g.41933195G=CA1779195810KAT6Ac.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=)
8g.41933195G>TCA460783616KAT6Ac.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
8g.41933196G>ACA371063822KAT6Ac.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
8g.41933196G>CCA371063823KAT6Ac.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)
8g.41933196G=CA1779195811KAT6Ac.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=)
8g.41933196G>TCA371063824KAT6Ac.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)
8g.41933201_41933203dupCA4729375KAT6Ac.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
8g.41933197G>ACA371063825KAT6Ac.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
8g.41933197G>CCA371063827KAT6Ac.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
8g.41933197G=CA1779195812KAT6Ac.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=)
8g.41933197G>TCA371063826KAT6Ac.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)
8g.41933198T>ACA460783622KAT6Ac.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=)
8g.41933198T>CCA460783623KAT6Ac.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=)
8g.41933198T>GCA4729376KAT6Ac.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
8g.41933198T=CA1779195813KAT6Ac.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=)
8g.41933199G>ACA371063828KAT6Ac.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
8g.41933199G>CCA371063829KAT6Ac.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)
8g.41933199G=CA1779195814KAT6Ac.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=)
8g.41933199G>TCA371063830KAT6Ac.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
8g.41933200G>ACA371063831KAT6Ac.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)
8g.41933200G>CCA175938854KAT6Ac.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
8g.41933200G=CA1779195815KAT6Ac.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=)
8g.41933200G>TCA371063832KAT6Ac.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
8g.41933201T>ACA460783629KAT6Ac.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
8g.41933201T>CCA460783630KAT6Ac.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
8g.41933201T>GCA460783632KAT6Ac.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=)
8g.41933201T=CA1779195816KAT6Ac.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=)
8g.41933202G>ACA371063833KAT6Ac.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
8g.41933202G>CCA371063834KAT6Ac.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)
8g.41933202G=CA1779195817KAT6Ac.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=)
8g.41933202G>TCA371063835KAT6Ac.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
8g.41933203G>ACA371063836KAT6Ac.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)
8g.41933203G>CCA371063837KAT6Ac.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)
8g.41933203G>TCA371063838KAT6Ac.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
8g.41933204A=CA1779195818KAT6Ac.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=)
8g.41933204A>CCA460783639KAT6Ac.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=)
8g.41933204A>GCA175938859KAT6Ac.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
8g.41933204A>TCA460783638KAT6Ac.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=)
8g.41933205G>ACA371063839KAT6Ac.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)
8g.41933205G>CCA371063840KAT6Ac.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)
8g.41933205G>TCA371063841KAT6Ac.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)
8g.41933213_41933245delCA2687076946KAT6Ac.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
8g.41933210_41933272delCA581928330KAT6Ac.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
8g.41933206G>ACA371063842KAT6Ac.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)
8g.41933206G>CCA371063843KAT6Ac.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)
8g.41933206G>TCA371063844KAT6Ac.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)
8g.41933207C>ACA371063845KAT6Ac.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
8g.41933207C>GCA371063846KAT6Ac.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)
8g.41933207C>TCA460783642KAT6Ac.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
8g.41933208T>ACA371063847KAT6Ac.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)
8g.41933208T>CCA371063848KAT6Ac.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
8g.41933208T>GCA371063849KAT6Ac.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)
8g.41933214_41933225dupCA1139532356KAT6Ac.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
8g.41933208_41933259delinsTGTGGTGCTGGTTGTGGTTGTGGCGGCGGCGGCTGTGGCTGCTGTGGAGGCGCA1779195819KAT6Ac.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=)
8g.41933209G>ACA371063850KAT6Ac.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)
8g.41933209G>CCA371063851KAT6Ac.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)
8g.41933209G>TCA371063852KAT6Ac.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)
8g.41933215_41933265delCA1113181407KAT6Ac.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
8g.41933210T>ACA460783647KAT6Ac.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
8g.41933210T>CCA4729377KAT6Ac.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
8g.41933210T>GCA460783650KAT6Ac.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
8g.41933210T=CA1779195820KAT6Ac.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=)
8g.41933211G>ACA4729378KAT6Ac.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
8g.41933211G>CCA371063853KAT6Ac.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)
8g.41933211G=CA1779195821KAT6Ac.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=)
8g.41933211G>TCA371063854KAT6Ac.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
8g.41933212G>ACA371063855KAT6Ac.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)
8g.41933212G>CCA371063856KAT6Ac.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)
8g.41933212G>TCA371063857KAT6Ac.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
8g.41933213T>ACA460783657KAT6Ac.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=)
8g.41933213T>CCA460783658KAT6Ac.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=)
8g.41933213T>GCA460783659KAT6Ac.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=)
8g.41933214G>ACA371063858KAT6Ac.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
8g.41933214G>CCA371063859KAT6Ac.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)
8g.41933214G>TCA371063860KAT6Ac.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
8g.41933215C>ACA371063861KAT6Ac.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
8g.41933215C>GCA371063863KAT6Ac.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)
8g.41933215C>TCA371063862KAT6Ac.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
8g.41933215_41933220dupCA2687076947KAT6Ac.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
8g.41933215_41933221delinsCTGGTTGCA1779195822KAT6Ac.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=)
8g.41933216T>ACA460783671KAT6Ac.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=)
8g.41933216T>CCA460783672KAT6Ac.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=)
8g.41933216T>GCA460783673KAT6Ac.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=)
8g.41933225_41933230dupCA175938865KAT6Ac.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
8g.41933225_41933230delCA175938870KAT6Ac.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
8g.41933217G>ACA371063864KAT6Ac.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)
8g.41933217G>CCA371063865KAT6Ac.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)
8g.41933217G>TCA371063866KAT6Ac.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
8g.41933218G>ACA371063867KAT6Ac.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
8g.41933218G>CCA371063868KAT6Ac.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)
8g.41933218G=CA1779195823KAT6Ac.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=)
8g.41933218G>TCA371063869KAT6Ac.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
8g.41933219T>ACA371063870KAT6Ac.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)
8g.41933219T>CCA4729379KAT6Ac.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
8g.41933219T>GCA371063871KAT6Ac.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)
8g.41933219T=CA1779195824KAT6Ac.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=)
8g.41933220T>ACA371063872KAT6Ac.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)
8g.41933220T>CCA371063874KAT6Ac.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)
8g.41933220T>GCA371063875KAT6Ac.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)
8g.41933221G>ACA371063876KAT6Ac.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)
8g.41933221G>CCA371063878KAT6Ac.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)
8g.41933221G>TCA371063877KAT6Ac.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
8g.41933222T>ACA460783685KAT6Ac.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=)
8g.41933222T>CCA460783687KAT6Ac.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
8g.41933222T>GCA460783689KAT6Ac.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=)
8g.41933223G>ACA371063879KAT6Ac.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
8g.41933223G>CCA371063880KAT6Ac.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)
8g.41933223G>TCA371063881KAT6Ac.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)
8g.41933224G>ACA371063882KAT6Ac.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
8g.41933224G>CCA371063883KAT6Ac.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
8g.41933224G=CA1779195825KAT6Ac.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=)
8g.41933224G>TCA371063884KAT6Ac.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
8g.41933225T>ACA371063885KAT6Ac.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)
8g.41933225T>CCA4729380KAT6Ac.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
8g.41933225T>GCA371063886KAT6Ac.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)
8g.41933225T=CA1779195826KAT6Ac.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=)
8g.41933226T>ACA371063887KAT6Ac.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)
8g.41933226T>CCA371063888KAT6Ac.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)
8g.41933226T>GCA371063889KAT6Ac.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)
8g.41933231_41933254dupCA2740095013KAT6Ac.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
8g.41933227G>ACA371063892KAT6Ac.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)
8g.41933227G>CCA371063891KAT6Ac.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)
8g.41933227G>TCA371063890KAT6Ac.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)
8g.41933235_41933270delCA2687076948KAT6Ac.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
8g.41933228T>ACA460783701KAT6Ac.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=)
8g.41933228T>CCA175938882KAT6Ac.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
8g.41933228T>GCA460783702KAT6Ac.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=)
8g.41933228T=CA1779195828KAT6Ac.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=)
8g.41933228_41933234delinsTGGCGGCCA1779195827KAT6Ac.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=)
8g.41933229G>ACA371063893KAT6Ac.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)
8g.41933229G>CCA371063894KAT6Ac.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)
8g.41933229G>TCA371063895KAT6Ac.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)
8g.41933238_41933240dupCA2687076949KAT6Ac.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
8g.41933235_41933240dupCA2687076950KAT6Ac.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
8g.41933232_41933240dupCA175938886KAT6Ac.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
8g.41933238_41933240delCA4729381KAT6Ac.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
8g.41933235_41933240delCA581928331KAT6Ac.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
8g.41933230G>ACA371063896KAT6Ac.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
8g.41933230G>CCA4729382KAT6Ac.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
8g.41933230G=CA1779195829KAT6Ac.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=)
8g.41933230G>TCA371063897KAT6Ac.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
8g.41933231C>ACA460783709KAT6Ac.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
8g.41933231C=CA1779195830KAT6Ac.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=)
8g.41933231C>GCA460783713KAT6Ac.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=)
8g.41933231C>TCA4729383KAT6Ac.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
8g.41933231_41933255delinsCGGCGGCGGCTGTGGCTGCTGTGGACA1779195831KAT6Ac.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=)
8g.41933232G>ACA4729384KAT6Ac.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
8g.41933232G>CCA371063898KAT6Ac.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)
8g.41933232G=CA1779195833KAT6Ac.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=)
8g.41933232G>TCA371063899KAT6Ac.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)
8g.41933237_41933260delCA1779195832KAT6Ac.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
8g.41933233G>ACA371063900KAT6Ac.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
8g.41933233G>CCA371063903KAT6Ac.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)
8g.41933233G>TCA371063901KAT6Ac.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
8g.41933235_41933249dupCA581928332KAT6Ac.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
8g.41933234C>ACA460783719KAT6Ac.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=)
8g.41933234C=CA1779195834KAT6Ac.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=)
8g.41933234C>GCA4729385KAT6Ac.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
8g.41933234C>TCA4729386KAT6Ac.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
8g.41933234_41933255delinsCGGCGGCTGTGGCTGCTGTGGACA1779195835KAT6Ac.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=)
8g.41933235G>ACA4729387KAT6Ac.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
8g.41933235G>CCA371063911KAT6Ac.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)
8g.41933235G=CA1779195836KAT6Ac.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=)
8g.41933235G>TCA4729388KAT6Ac.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
8g.41933238_41933246dupCA915945664KAT6Ac.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
8g.41933240_41933260delCA581928333KAT6Ac.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
8g.41933243_41933272delCA2687076951KAT6Ac.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
8g.41933236G>ACA371063915KAT6Ac.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
8g.41933236G>CCA371063916KAT6Ac.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)
8g.41933236G=CA1779195837KAT6Ac.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=)
8g.41933236G>TCA371063919KAT6Ac.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
8g.41933237C>ACA460783727KAT6Ac.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
8g.41933237C=CA1779195838KAT6Ac.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=)
8g.41933237C>GCA4729390KAT6Ac.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
8g.41933237C>TCA460783730KAT6Ac.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
8g.41933238G>ACA4729391KAT6Ac.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
8g.41933238G>CCA371063927KAT6Ac.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)
8g.41933238G=CA1779195839KAT6Ac.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=)
8g.41933238G>TCA371063929KAT6Ac.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
8g.41933243_41933248dupCA2687076953KAT6Ac.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
8g.41933240_41933254dupCA4729389KAT6Ac.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
8g.41933239G>ACA371063937KAT6Ac.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
8g.41933239G>CCA371063932KAT6Ac.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)
8g.41933239G>TCA371063935KAT6Ac.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
8g.41933240_41933242delCA2687076954KAT6Ac.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
8g.41933246_41933254dupCA4729392KAT6Ac.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
8g.41933246_41933254delCA2687076955KAT6Ac.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
8g.41933240delCA2740095014KAT6Ac.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
8g.41933240C>ACA371063941KAT6Ac.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
8g.41933240C>GCA371063943KAT6Ac.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
8g.41933240C>TCA460783737KAT6Ac.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
8g.41933240_41933261delinsCTGTGGCTGCTGTGGAGGCGGTCA1779195840KAT6Ac.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=)
8g.41933241T>ACA371063945KAT6Ac.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
8g.41933241T>CCA371063947KAT6Ac.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
8g.41933241T>GCA371063949KAT6Ac.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)
8g.41933241_41933261delCA1779195841KAT6Ac.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
8g.41933242G>ACA371063952KAT6Ac.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
8g.41933242G>CCA371063954KAT6Ac.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)
8g.41933242G>TCA371063956KAT6Ac.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
8g.41933243T>ACA460783743KAT6Ac.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=)
8g.41933243T>CCA175938944KAT6Ac.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
8g.41933243T>GCA460783745KAT6Ac.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=)
8g.41933243T=CA1779195843KAT6Ac.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=)
8g.41933243_41933267delinsTGGCTGCTGTGGAGGCGGTGGTGGCCA1779195842KAT6Ac.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=)
8g.41933244G>ACA371063961KAT6Ac.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)
8g.41933244G>CCA371063962KAT6Ac.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)
8g.41933244G>TCA371063963KAT6Ac.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
8g.41933252_41933275delCA4729393KAT6Ac.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
8g.41933245G>ACA371063969KAT6Ac.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
8g.41933245G>CCA371063970KAT6Ac.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)
8g.41933245G>TCA371063973KAT6Ac.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
8g.41933246C>ACA371063975KAT6Ac.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)
8g.41933246C=CA1779195844KAT6Ac.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=)
8g.41933246C>GCA371063978KAT6Ac.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)
8g.41933246C>TCA4729394KAT6Ac.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
8g.41933247T>ACA371063984KAT6Ac.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)
8g.41933247T>CCA371063987KAT6Ac.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
8g.41933247T>GCA371063989KAT6Ac.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
8g.41933247T=CA1779195845KAT6Ac.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=)
8g.41933248G>ACA371063991KAT6Ac.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
8g.41933248G>CCA371063993KAT6Ac.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)
8g.41933248G>TCA371063996KAT6Ac.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
8g.41933249C>ACA371063998KAT6Ac.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
8g.41933249C>GCA371064000KAT6Ac.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)
8g.41933249C>TCA460783361KAT6Ac.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
8g.41933250T>ACA371064007KAT6Ac.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)
8g.41933250T>CCA371064003KAT6Ac.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
8g.41933250T>GCA371064005KAT6Ac.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)
8g.41933251G>ACA371064009KAT6Ac.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
8g.41933251G>CCA371064010KAT6Ac.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
8g.41933251G>TCA371064013KAT6Ac.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

Number of alleles fetched