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>> KCNQ2基因突变数据库
KCNQ2基因突变数据库最新数据 来源：KCNQ2病友社
c.(? -177) 690+?del-p.0?
c.1-?c.993+?del-p.?
c.1A>G-p.Met1?
c.2T>C-p.Met1?
c.63 66delGGTG-p.Val22AlafsTer18
c.204 205insC-p.Lys69GlnfsTer50
c.232delC-p.Gln78ArgfsTer54
c.296+1G>A-p.Val99?
c.297-2A>G-p.Val99?
c.314 316delCCT-p.Ser105del
c.333 334delGT-p.Ser113HisfsTer6
c.340A>G-p.Thr114Ala
c.341C>T-p.Thr114Ile
c.346 348delAAG-p.Lys116del
c.356A>G-p.Glu119Gly
c.365C>T-p.Ser122Leu
c.387+1G>T-p.Leu129?
c.388-2 388delAGG-p.Glu130?
c.431G>A-p.Arg144Gln
c.460T>G-p.Tyr154Asp
c.471G>A-p.Trp157Ter
c.474-940 c.1424+1582del-p.?
c.475G>A-p.Gly159Arg
c.476G>-p.Gly159Glu
c.523G>C-p.Val175Leu
c.565-682 c.1295+del-p.?
c.565-? c.1478+?(2)-p.?
c.566G>T-p.Gly189Val
c.583T>C-p.Gly195Pro
c.584 593delCTGCGCTCCGinsA
c.585 586insT-p.Ala196CysfsTer66
c.587C>T-p.Ala196Val
c.[587C>T:590T>C]-p.[Ala196V
c.592 594delCGCinsA-p.Arg198LysfsT
c.601C>T-p.Arg201Cys
c.602G>A-p.Arg201His
c.608T>C-p.Leu203Pro
c.610C>T-p.Gly204Ter
c.613A>G-p.Ile205Val
c.619C>T-p.Arg207Trp
c.620G>A-p.Arg207Gln
c.622A>G-p.Met208Val
c.628C>T-p.Arg210Cys
c.629G>A-p.Arg210His
c.635A>G-p.Asp212Gly
c.637C>T-p.Arg213Trp
c.638G>A-p.Arg213Gln
c.640C>T-p.Arg214Trp
c.643G>A-p.Gly215Arg
c.649A>G-p.Thr217Ala
c.650C>A-p.Thr217Asn
c.684C>A-p.His228Gln
c.700A>C-p.Thr234Pro
c.715G>C-p.Gly239Arg
c.727C>T-p.Leu243Phe
c.740C>A-p.Ser247Ter
c.740C>G-p.Ser247Trp
c.749T>G-p.Val250Gly
c.757G>A-p.Ala253Thr
c.766G>T-p.Gly256Trp
c.773A>G-p.Asn258Ser
c.793G>A-p.Ala265Thr
c.793G>C-p.Ala265Pro
c.794C>T-p.Ala265Val
c.802C>T-p.Leu268Phe
c.807G>A-p.Trp269Ter
c.812G>T-p.Gly271Val
c.821C>T-p.Thr274Met
c.827C>T-p.Thr276Ile
c.835G>T-p.Gly279Cys
c.836G>A-p.Gly279Ser
c.841G>A-p.Gly281Arg
c.841G>T-p.Gly281Trp
c.847 848insGT-p.Lys283SerfsTer36
c.851A>G-p.Tyr284Cys
c.854C>A-p.Pro285His
c.860C>A-p.Thr287Asn
c.868G>A-p.Gly290Ser
c.869G>A-p.Gly290Asp
c.881C>G-p.Ala294Gly
c.881C>T-p.Ala294Val
c.886A>C-p.Thr296Pro
c.901G>A-p.Gly301Ser
c.910 912delTTT/Corc.913 915delTTC
c.911T>C-p.Phe304Ser
c.915C>A-p.Phe305Leu
c.916G>A-p.Ala306Thr
c.917C>T-p.Ala306Val
c.926C>T-p.Ala309Val
c.928-1G>C-p.Gly310?
c.939 940insG-p.Ser314ValfsTer16
c.943G>C-p.Gly315Arg
c.967C>T-p.Gln323Ter
c.973A>G-p.Arg325Gly
c.997C>T-p.Arg333Trp
c.998G>A-p.Arg333Gln
c.1010C>G-p.Ala337Gly
c.1016T>G-p.Leu339Arg
c.1024-2A>G-p.Ser342?
c.1030T>C-p.Trp344Arg
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