NM_000330.4(RS1):c.522+5G>A
|
rs200074383
|
0.00004
|
NM_000330.4(RS1):c.325G>C (p.Gly109Arg)
|
rs104894934
|
0.00002
|
NM_000330.4(RS1):c.185-3090_185-3089insT
|
rs1158418673
|
0.00001
|
NM_000330.4(RS1):c.214G>A (p.Glu72Lys)
|
rs104894928
|
0.00001
|
NM_000330.4(RS1):c.221G>T (p.Gly74Val)
|
rs104894933
|
0.00001
|
NM_000330.4(RS1):c.304C>T (p.Arg102Trp)
|
rs61752067
|
0.00001
|
NM_000330.4(RS1):c.305G>A (p.Arg102Gln)
|
rs61752068
|
0.00001
|
NM_000330.4(RS1):c.416del (p.Gln139fs)
|
rs61752155
|
0.00001
|
NM_000330.4(RS1):c.535A>C (p.Asn179His)
|
rs61753170
|
0.00001
|
NM_000330.4(RS1):c.544C>T (p.Arg182Cys)
|
rs61753171
|
0.00001
|
NM_000330.4(RS1):c.590G>A (p.Arg197His)
|
rs281865355
|
0.00001
|
GRCh37/hg19 Xp22.13(chrX:18442534-18684145)x1
|
|
|
GRCh37/hg19 Xp22.13(chrX:18661283-18702225)x1
|
|
|
GRCh38/hg38 Xp22.13(chrX:18644057-18672058)x0
|
|
|
NC_000023.10:g.(?_18582587)_(18690188_?)del
|
|
|
NC_000023.10:g.(?_18662530)_(18690188_?)del
|
|
|
NC_000023.10:g.(?_18662550)_(18690188_?)del
|
|
|
NC_000023.10:g.(?_18663320)_(18665330_?)del
|
|
|
NC_000023.10:g.(?_18665301)_(18665462_?)del
|
|
|
NC_000023.11:g.(?_18506933)_(18653564_?)del
|
|
|
NM_000330.4(RS1):c.185-1G>C
|
rs281865344
|
|
NM_000330.4(RS1):c.185-1G>T
|
|
|
NM_000330.4(RS1):c.188G>A (p.Cys63Tyr)
|
|
|
NM_000330.4(RS1):c.189C>A (p.Cys63Ter)
|
|
|
NM_000330.4(RS1):c.194A>G (p.Tyr65Cys)
|
rs62645892
|
|
NM_000330.4(RS1):c.199_206dup (p.Gly70fs)
|
rs1927824776
|
|
NM_000330.4(RS1):c.208G>A (p.Gly70Ser)
|
rs62645894
|
|
NM_000330.4(RS1):c.208G>C (p.Gly70Arg)
|
rs62645894
|
|
NM_000330.4(RS1):c.209G>C (p.Gly70Ala)
|
rs62645895
|
|
NM_000330.4(RS1):c.214G>C (p.Glu72Gln)
|
rs104894928
|
|
NM_000330.4(RS1):c.215A>G (p.Glu72Gly)
|
rs1927823799
|
|
NM_000330.4(RS1):c.215A>T (p.Glu72Val)
|
|
|
NM_000330.4(RS1):c.216G>C (p.Glu72Asp)
|
rs104894932
|
|
NM_000330.4(RS1):c.218C>A (p.Ser73Ter)
|
rs1927823203
|
|
NM_000330.4(RS1):c.218C>G (p.Ser73Ter)
|
rs1927823203
|
|
NM_000330.4(RS1):c.219del (p.Glu75fs)
|
rs62645900
|
|
NM_000330.4(RS1):c.221_237delinsTCCCCTGACCGGGTTAGAGT (p.Gly74_Asp79delinsValProTer)
|
rs1555957756
|
|
NM_000330.4(RS1):c.227T>A (p.Val76Asp)
|
rs2147194138
|
|
NM_000330.4(RS1):c.262C>T (p.Gln88Ter)
|
rs61750459
|
|
NM_000330.4(RS1):c.266A>G (p.Tyr89Cys)
|
rs61752060
|
|
NM_000330.4(RS1):c.276G>C (p.Trp92Cys)
|
rs61752062
|
|
NM_000330.4(RS1):c.279T>A (p.Tyr93Ter)
|
rs1057520548
|
|
NM_000330.4(RS1):c.284C>A (p.Ser95Ter)
|
|
|
NM_000330.4(RS1):c.286T>C (p.Trp96Arg)
|
rs61752063
|
|
NM_000330.4(RS1):c.287G>A (p.Trp96Ter)
|
rs2147193970
|
|
NM_000330.4(RS1):c.288G>A (p.Trp96Ter)
|
rs61752064
|
|
NM_000330.4(RS1):c.288G>C (p.Trp96Cys)
|
rs61752064
|
|
NM_000330.4(RS1):c.293C>A (p.Ala98Glu)
|
rs61752065
|
|
NM_000330.4(RS1):c.302C>T (p.Ala101Val)
|
rs2147193941
|
|
NM_000330.4(RS1):c.311A>C (p.Asn104Thr)
|
rs1927814979
|
|
NM_000330.4(RS1):c.316C>T (p.Gln106Ter)
|
rs1386256334
|
|
NM_000330.4(RS1):c.318dup (p.Gly107fs)
|
rs61752071
|
|
NM_000330.4(RS1):c.325G>A (p.Gly109Arg)
|
rs104894934
|
|
NM_000330.4(RS1):c.325G>T (p.Gly109Trp)
|
rs104894934
|
|
NM_000330.4(RS1):c.326+1G>T
|
rs281865346
|
|
NM_000330.4(RS1):c.326+2T>G
|
rs2147193875
|
|
NM_000330.4(RS1):c.326G>A (p.Gly109Glu)
|
rs281865345
|
|
NM_000330.4(RS1):c.327-2_337del
|
|
|
NM_000330.4(RS1):c.329G>A (p.Cys110Tyr)
|
rs61752075
|
|
NM_000330.4(RS1):c.330T>A (p.Cys110Ter)
|
rs1801161
|
|
NM_000330.4(RS1):c.332C>A (p.Ala111Asp)
|
rs2147191414
|
|
NM_000330.4(RS1):c.332C>T (p.Ala111Val)
|
rs2147191414
|
|
NM_000330.4(RS1):c.335_336dup (p.Leu113fs)
|
rs1927705610
|
|
NM_000330.4(RS1):c.336G>T (p.Trp112Cys)
|
rs61752144
|
|
NM_000330.4(RS1):c.337C>T (p.Leu113Phe)
|
rs61752145
|
|
NM_000330.4(RS1):c.349C>T (p.Gln117Ter)
|
rs199469696
|
|
NM_000330.4(RS1):c.366G>A (p.Trp122Ter)
|
rs61752147
|
|
NM_000330.4(RS1):c.370C>T (p.Gln124Ter)
|
rs2147191361
|
|
NM_000330.4(RS1):c.371dup (p.Ile125fs)
|
|
|
NM_000330.4(RS1):c.372_373insTAGCCAGTGG (p.Ile125Ter)
|
rs2147191359
|
|
NM_000330.4(RS1):c.375_378del (p.Ile125_Asp126insTer)
|
rs61752148
|
|
NM_000330.4(RS1):c.377A>G (p.Asp126Gly)
|
|
|
NM_000330.4(RS1):c.404G>A (p.Gly135Glu)
|
rs61752152
|
|
NM_000330.4(RS1):c.407T>C (p.Ile136Thr)
|
rs61752153
|
|
NM_000330.4(RS1):c.415C>T (p.Gln139Ter)
|
|
|
NM_000330.4(RS1):c.418G>A (p.Gly140Arg)
|
rs61752156
|
|
NM_000330.4(RS1):c.418G>T (p.Gly140Trp)
|
|
|
NM_000330.4(RS1):c.419G>A (p.Gly140Glu)
|
rs61752157
|
|
NM_000330.4(RS1):c.421C>G (p.Arg141Gly)
|
rs61752158
|
|
NM_000330.4(RS1):c.421C>T (p.Arg141Cys)
|
rs61752158
|
|
NM_000330.4(RS1):c.422G>A (p.Arg141His)
|
rs61752159
|
|
NM_000330.4(RS1):c.452A>C (p.Tyr151Ser)
|
rs1131691380
|
|
NM_000330.4(RS1):c.460C>T (p.Gln154Ter)
|
rs61753164
|
|
NM_000330.4(RS1):c.461A>G (p.Gln154Arg)
|
rs2147191205
|
|
NM_000330.4(RS1):c.464dup (p.Tyr155Ter)
|
rs2147191194
|
|
NM_000330.4(RS1):c.466A>G (p.Arg156Gly)
|
rs2147191190
|
|
NM_000330.4(RS1):c.481dup (p.Leu161fs)
|
rs2147191149
|
|
NM_000330.4(RS1):c.498C>A (p.Tyr166Ter)
|
rs1057516744
|
|
NM_000330.4(RS1):c.505C>T (p.Gln169Ter)
|
|
|
NM_000330.4(RS1):c.511G>A (p.Gly171Arg)
|
rs2147191113
|
|
NM_000330.4(RS1):c.520del (p.Arg174fs)
|
rs886041235
|
|
NM_000330.4(RS1):c.522+1G>A
|
rs281865348
|
|
NM_000330.4(RS1):c.522+1G>T
|
rs281865348
|
|
NM_000330.4(RS1):c.522+2T>A
|
rs2147191083
|
|
NM_000330.4(RS1):c.523-2A>G
|
rs281865349
|
|
NM_000330.4(RS1):c.527T>C (p.Phe176Ser)
|
|
|
NM_000330.4(RS1):c.531T>G (p.Tyr177Ter)
|
rs2147189125
|
|
NM_000330.4(RS1):c.573_574delinsTT (p.Pro192Ser)
|
rs2147189048
|
|
NM_000330.4(RS1):c.574C>A (p.Pro192Thr)
|
rs61753174
|
|
NM_000330.4(RS1):c.574C>T (p.Pro192Ser)
|
rs61753174
|
|
NM_000330.4(RS1):c.575C>A (p.Pro192His)
|
rs61753175
|
|
NM_000330.4(RS1):c.575C>T (p.Pro192Leu)
|
rs61753175
|
|
NM_000330.4(RS1):c.575_576insT (p.Ile194fs)
|
rs1927604163
|
|
NM_000330.4(RS1):c.577C>T (p.Pro193Ser)
|
rs281865351
|
|
NM_000330.4(RS1):c.577_579del (p.Pro193del)
|
|
|
NM_000330.4(RS1):c.578C>T (p.Pro193Leu)
|
rs281865352
|
|
NM_000330.4(RS1):c.579del (p.Ile194fs)
|
rs199469697
|
|
NM_000330.4(RS1):c.579dup (p.Ile194fs)
|
rs199469697
|
|
NM_000330.4(RS1):c.581dup (p.Ile195fs)
|
rs2147189016
|
|
NM_000330.4(RS1):c.589C>T (p.Arg197Cys)
|
rs281865354
|
|
NM_000330.4(RS1):c.596T>C (p.Ile199Thr)
|
rs281865356
|
|
NM_000330.4(RS1):c.598C>T (p.Arg200Cys)
|
rs281865357
|
|
NM_000330.4(RS1):c.599G>A (p.Arg200His)
|
rs281865358
|
|
NM_000330.4(RS1):c.607C>A (p.Pro203Thr)
|
rs1927600619
|
|
NM_000330.4(RS1):c.607C>T (p.Pro203Ser)
|
|
|
NM_000330.4(RS1):c.608C>T (p.Pro203Leu)
|
rs104894930
|
|
NM_000330.4(RS1):c.618G>A (p.Trp206Ter)
|
rs281865359
|
|
NM_000330.4(RS1):c.619C>G (p.His207Asp)
|
rs2147188931
|
|
NM_000330.4(RS1):c.625C>T (p.Arg209Cys)
|
rs281865361
|
|
NM_000330.4(RS1):c.626G>A (p.Arg209His)
|
rs281865362
|
|
NM_000330.4(RS1):c.632C>T (p.Ala211Val)
|
rs1602308821
|
|
NM_000330.4(RS1):c.637C>T (p.Arg213Trp)
|
rs281865365
|
|
NM_000330.4(RS1):c.637del (p.Arg213fs)
|
rs2147188897
|
|
NM_000330.4(RS1):c.639del (p.Met214fs)
|
rs281865366
|
|
NM_000330.4(RS1):c.644A>T (p.Glu215Val)
|
rs2147188877
|
|
NM_000330.4(RS1):c.647T>C (p.Leu216Pro)
|
rs281865368
|
|
NM_000330.4(RS1):c.655T>C (p.Cys219Arg)
|
rs281865369
|
|
NM_000330.4(RS1):c.656G>A (p.Cys219Tyr)
|
rs2147188856
|
|
NM_000330.4(RS1):c.656_657delinsAG (p.Cys219Ter)
|
|
|
NM_000330.4(RS1):c.667T>C (p.Cys223Arg)
|
rs104894929
|
|
NM_000330.4(RS1):c.668G>A (p.Cys223Tyr)
|
rs1057517816
|
|
NM_003159.2(CDKL5):c.-162-?_*85del
|
|
|
NM_003159.2(CDKL5):c.146-?_*85del
|
|
|
NM_003159.2(CDKL5):c.2377-?_*85del
|
|
|
NM_003159.2(CDKL5):c.2497-?_*85del
|
|
|