NM_014043.4(CHMP2B):c.312T>C (p.Thr104=)
|
rs11540913
|
0.82371
|
NM_001377265.1(MAPT):c.1546T>C (p.Tyr516His)
|
rs2258689
|
0.21570
|
NM_001377265.1(MAPT):c.1857A>G (p.Ala619=)
|
rs1052553
|
0.14782
|
NM_001377265.1(MAPT):c.1941T>C (p.Asn647=)
|
rs17652121
|
0.14693
|
NM_001377265.1(MAPT):c.1091T>C (p.Val364Ala)
|
rs62063787
|
0.14671
|
NM_001377265.1(MAPT):c.830C>T (p.Pro277Leu)
|
rs63750417
|
0.14668
|
NM_001377265.1(MAPT):c.1078G>A (p.Asp360Asn)
|
rs62063786
|
0.14666
|
NM_001377265.1(MAPT):c.1564T>C (p.Ser522Pro)
|
rs10445337
|
0.14666
|
NM_001377265.1(MAPT):c.1732+2342T>C
|
rs62063845
|
0.14662
|
NM_001377265.1(MAPT):c.1704G>A (p.Pro568=)
|
rs1052551
|
0.12440
|
NM_001377265.1(MAPT):c.1080C>T (p.Asp360=)
|
rs63750222
|
0.10563
|
NM_014043.4(CHMP2B):c.27C>T (p.Thr9=)
|
rs2279720
|
0.09131
|
NM_014043.4(CHMP2B):c.372A>C (p.Thr124=)
|
rs1044499
|
0.09006
|
NM_001377265.1(MAPT):c.1986G>A (p.Pro662=)
|
rs11568305
|
0.03866
|
NM_001377265.1(MAPT):c.914A>G (p.Gln305Arg)
|
rs63750072
|
0.03830
|
NM_002087.4(GRN):c.384T>C (p.Asp128=)
|
rs25646
|
0.02616
|
NM_001377265.1(MAPT):c.1708G>A (p.Ala570Thr)
|
rs63750612
|
0.01528
|
NM_000021.4(PSEN1):c.953A>G (p.Glu318Gly)
|
rs17125721
|
0.01497
|
NM_000447.3(PSEN2):c.185G>A (p.Arg62His)
|
rs58973334
|
0.01433
|
NM_002087.4(GRN):c.55C>T (p.Arg19Trp)
|
rs63750723
|
0.01303
|
NM_002087.4(GRN):c.1544G>C (p.Gly515Ala)
|
rs25647
|
0.00781
|
NM_002087.4(GRN):c.1297C>T (p.Arg433Trp)
|
rs63750412
|
0.00523
|
NM_002087.4(GRN):c.545C>T (p.Thr182Met)
|
rs63750479
|
0.00356
|
NM_001377265.1(MAPT):c.2091+29G>A
|
rs63751443
|
0.00213
|
NM_001377265.1(MAPT):c.117G>A (p.Thr39=)
|
rs63750529
|
0.00154
|
NM_002087.4(GRN):c.970G>A (p.Ala324Thr)
|
rs63750541
|
0.00112
|
NM_001377265.1(MAPT):c.1891G>A (p.Ala631Thr)
|
rs63750096
|
0.00085
|
NM_002087.4(GRN):c.359C>A (p.Ser120Tyr)
|
rs63750043
|
0.00076
|
NM_000447.3(PSEN2):c.389C>T (p.Ser130Leu)
|
rs63750197
|
0.00073
|
NM_002087.4(GRN):c.903G>A (p.Ser301=)
|
rs63750142
|
0.00044
|
NM_000484.4(APP):c.2017G>A (p.Ala673Thr)
|
rs63750847
|
0.00031
|
NM_000021.4(PSEN1):c.104G>A (p.Arg35Gln)
|
rs63750592
|
0.00030
|
NM_002087.4(GRN):c.635G>A (p.Arg212Gln)
|
rs63750787
|
0.00029
|
NM_001377265.1(MAPT):c.54C>T (p.Tyr18=)
|
rs63750811
|
0.00024
|
NM_002087.4(GRN):c.1253G>A (p.Arg418Gln)
|
rs63751100
|
0.00022
|
NM_014043.4(CHMP2B):c.85A>G (p.Ile29Val)
|
rs63750818
|
0.00020
|
NM_002087.4(GRN):c.279G>A (p.Gly93=)
|
rs63751088
|
0.00014
|
NM_001377265.1(MAPT):c.2079G>A (p.Pro693=)
|
rs63751395
|
0.00010
|
NM_002087.4(GRN):c.1341C>T (p.His447=)
|
rs63750775
|
0.00008
|
NM_000484.4(APP):c.2137G>A (p.Ala713Thr)
|
rs63750066
|
0.00006
|
NM_001377265.1(MAPT):c.2263G>A (p.Val755Ile)
|
rs63750869
|
0.00006
|
NM_002087.4(GRN):c.102C>T (p.Pro34=)
|
rs63751074
|
0.00005
|
NM_000021.4(PSEN1):c.1073G>A (p.Arg358Gln)
|
rs63751174
|
0.00004
|
NM_000021.4(PSEN1):c.236C>T (p.Ala79Val)
|
rs63749824
|
0.00004
|
NM_000447.3(PSEN2):c.1316A>C (p.Asp439Ala)
|
rs63750110
|
0.00004
|
NM_000484.4(APP):c.2138C>T (p.Ala713Val)
|
rs1800557
|
0.00004
|
NM_002087.4(GRN):c.1648G>A (p.Val550Ile)
|
rs63750754
|
0.00004
|
NM_002087.4(GRN):c.1695C>T (p.Cys565=)
|
rs63751248
|
0.00004
|
NM_002087.4(GRN):c.698C>A (p.Pro233Gln)
|
rs63750455
|
0.00004
|
NM_014043.4(CHMP2B):c.428A>G (p.Asn143Ser)
|
rs63750944
|
0.00004
|
NM_000447.3(PSEN2):c.1001C>G (p.Pro334Arg)
|
rs63750207
|
0.00003
|
NM_001377265.1(MAPT):c.1332C>T (p.Ser444=)
|
rs63750862
|
0.00003
|
NM_001377265.1(MAPT):c.2091+25C>T
|
rs63750117
|
0.00003
|
NM_001377265.1(MAPT):c.220+2475G>A
|
rs63751135
|
0.00003
|
NM_002087.4(GRN):c.1176A>C (p.Pro392=)
|
rs63750448
|
0.00003
|
NM_002087.4(GRN):c.1294C>T (p.Arg432Cys)
|
rs63750130
|
0.00003
|
NM_002087.4(GRN):c.1485C>T (p.Cys495=)
|
rs63750576
|
0.00003
|
NM_002087.4(GRN):c.861G>C (p.Glu287Asp)
|
rs63750565
|
0.00003
|
NM_000447.3(PSEN2):c.1289C>T (p.Thr430Met)
|
rs63750666
|
0.00002
|
NM_001377265.1(MAPT):c.2392C>T (p.Arg798Trp)
|
rs63750424
|
0.00002
|
NM_001377265.1(MAPT):c.2446C>A (p.Gln816Lys)
|
rs63750191
|
0.00002
|
NM_002087.4(GRN):c.1373C>T (p.Pro458Leu)
|
rs63750537
|
0.00002
|
NM_002087.4(GRN):c.421G>A (p.Val141Ile)
|
rs63749853
|
0.00002
|
NM_000021.4(PSEN1):c.1053_1055dup (p.Arg352dup)
|
rs63750762
|
0.00001
|
NM_000021.4(PSEN1):c.1061C>T (p.Thr354Ile)
|
rs63751164
|
0.00001
|
NM_000021.4(PSEN1):c.1225G>A (p.Ala409Thr)
|
rs63750227
|
0.00001
|
NM_000021.4(PSEN1):c.1315A>G (p.Ile439Val)
|
rs63750249
|
0.00001
|
NM_000021.4(PSEN1):c.280G>A (p.Val94Met)
|
rs63750831
|
0.00001
|
NM_000021.4(PSEN1):c.367G>A (p.Glu123Lys)
|
rs63750378
|
0.00001
|
NM_000021.4(PSEN1):c.806G>A (p.Arg269His)
|
rs63750900
|
0.00001
|
NM_000447.3(PSEN2):c.442G>A (p.Val148Ile)
|
rs63750812
|
0.00001
|
NM_000447.3(PSEN2):c.683A>T (p.Gln228Leu)
|
rs63750880
|
0.00001
|
NM_000484.4(APP):c.1995G>C (p.Glu665Asp)
|
rs63750363
|
0.00001
|
NM_001377265.1(MAPT):c.2091+19C>G
|
rs63750162
|
0.00001
|
NM_001377265.1(MAPT):c.2231C>T (p.Ser744Leu)
|
rs63750425
|
0.00001
|
NM_001377265.1(MAPT):c.2456C>T (p.Thr819Met)
|
rs63750991
|
0.00001
|
NM_002087.4(GRN):c.1145del (p.Thr382fs)
|
rs63750805
|
0.00001
|
NM_002087.4(GRN):c.1241G>T (p.Gly414Val)
|
rs63750920
|
0.00001
|
NM_002087.4(GRN):c.1409C>T (p.Pro470Leu)
|
rs63750007
|
0.00001
|
NM_002087.4(GRN):c.1425C>T (p.Cys475=)
|
rs63751104
|
0.00001
|
NM_002087.4(GRN):c.1477C>T (p.Arg493Ter)
|
rs63751294
|
0.00001
|
NM_002087.4(GRN):c.2T>C (p.Met1Thr)
|
rs63751006
|
0.00001
|
NM_002087.4(GRN):c.473G>A (p.Cys158Tyr)
|
rs63750163
|
0.00001
|
NM_002087.4(GRN):c.708C>T (p.Asn236=)
|
rs63750744
|
0.00001
|
NM_002087.4(GRN):c.804G>A (p.Thr268=)
|
rs63750229
|
0.00001
|
NM_014043.4(CHMP2B):c.556C>T (p.Arg186Ter)
|
rs63751048
|
0.00001
|
NM_000021.4(PSEN1):c.1094C>A (p.Ser365Tyr)
|
rs63750941
|
|
NM_000021.4(PSEN1):c.1130G>T (p.Arg377Met)
|
rs63751051
|
|
NM_000021.4(PSEN1):c.1133G>T (p.Gly378Val)
|
rs63750323
|
|
NM_000021.4(PSEN1):c.1141C>G (p.Leu381Val)
|
rs63750687
|
|
NM_000021.4(PSEN1):c.1151G>C (p.Gly384Ala)
|
rs63750646
|
|
NM_000021.4(PSEN1):c.1157T>C (p.Phe386Ser)
|
rs63749860
|
|
NM_000021.4(PSEN1):c.1169G>T (p.Ser390Ile)
|
rs63750883
|
|
NM_000021.4(PSEN1):c.1171G>T (p.Val391Phe)
|
rs63751066
|
|
NM_000021.4(PSEN1):c.1174C>G (p.Leu392Val)
|
rs63751416
|
|
NM_000021.4(PSEN1):c.1175T>C (p.Leu392Pro)
|
rs63750218
|
|
NM_000021.4(PSEN1):c.1181G>T (p.Gly394Val)
|
rs63750929
|
|
NM_000021.4(PSEN1):c.1214A>G (p.Asn405Ser)
|
rs63751254
|
|
NM_000021.4(PSEN1):c.1229G>A (p.Cys410Tyr)
|
rs661
|
|
NM_000021.4(PSEN1):c.1254G>T (p.Leu418Phe)
|
rs63751316
|
|
NM_000021.4(PSEN1):c.1259T>G (p.Leu420Arg)
|
rs63750802
|
|
NM_000021.4(PSEN1):c.1271T>G (p.Leu424Arg)
|
rs63751032
|
|
NM_000021.4(PSEN1):c.1276G>C (p.Ala426Pro)
|
rs63751223
|
|
NM_000021.4(PSEN1):c.1292C>T (p.Ala431Val)
|
rs63750083
|
|
NM_000021.4(PSEN1):c.1300_1301delinsTG (p.Ala434Cys)
|
rs281875357
|
|
NM_000021.4(PSEN1):c.1303C>T (p.Leu435Phe)
|
rs63750001
|
|
NM_000021.4(PSEN1):c.1306C>T (p.Pro436Ser)
|
rs63749925
|
|
NM_000021.4(PSEN1):c.1307C>A (p.Pro436Gln)
|
rs121917808
|
|
NM_000021.4(PSEN1):c.1318_1320del (p.Thr440del)
|
rs63750470
|
|
NM_000021.4(PSEN1):c.244G>C (p.Val82Leu)
|
rs63749967
|
|
NM_000021.4(PSEN1):c.247_252del (p.Ile83_Met84del)
|
rs63750307
|
|
NM_000021.4(PSEN1):c.254T>C (p.Leu85Pro)
|
rs63750599
|
|
NM_000021.4(PSEN1):c.265G>T (p.Val89Leu)
|
rs63750815
|
|
NM_000021.4(PSEN1):c.275G>C (p.Cys92Ser)
|
rs63751141
|
|
NM_000021.4(PSEN1):c.286G>T (p.Val96Phe)
|
rs63750601
|
|
NM_000021.4(PSEN1):c.289G>T (p.Val97Leu)
|
rs63750852
|
|
NM_000021.4(PSEN1):c.313T>A (p.Phe105Ile)
|
rs63750325
|
|
NM_000021.4(PSEN1):c.315T>G (p.Phe105Leu)
|
rs63750321
|
|
NM_000021.4(PSEN1):c.338+1del
|
rs63751475
|
|
NM_000021.4(PSEN1):c.338T>C (p.Leu113Pro)
|
rs63751399
|
|
NM_000021.4(PSEN1):c.343T>G (p.Tyr115Asp)
|
rs63749962
|
|
NM_000021.4(PSEN1):c.344A>G (p.Tyr115Cys)
|
rs63750450
|
|
NM_000021.4(PSEN1):c.347C>T (p.Thr116Ile)
|
rs63750730
|
|
NM_000021.4(PSEN1):c.349C>T (p.Pro117Ser)
|
rs63750550
|
|
NM_000021.4(PSEN1):c.350C>T (p.Pro117Leu)
|
rs63749805
|
|
NM_000021.4(PSEN1):c.358G>A (p.Glu120Lys)
|
rs63750800
|
|
NM_000021.4(PSEN1):c.360A>T (p.Glu120Asp)
|
rs63751272
|
|
NM_000021.4(PSEN1):c.403A>G (p.Asn135Asp)
|
rs63750353
|
|
NM_000021.4(PSEN1):c.404A>G (p.Asn135Ser)
|
rs63751278
|
|
NM_000021.4(PSEN1):c.415A>G (p.Met139Val)
|
rs63751037
|
|
NM_000021.4(PSEN1):c.416T>C (p.Met139Thr)
|
rs63751106
|
|
NM_000021.4(PSEN1):c.417G>A (p.Met139Ile)
|
rs63750522
|
|
NM_000021.4(PSEN1):c.427A>T (p.Ile143Phe)
|
rs63750322
|
|
NM_000021.4(PSEN1):c.428T>C (p.Ile143Thr)
|
rs63750004
|
|
NM_000021.4(PSEN1):c.429T>G (p.Ile143Met)
|
rs63751071
|
|
NM_000021.4(PSEN1):c.436A>T (p.Met146Leu)
|
rs63750306
|
|
NM_000021.4(PSEN1):c.438G>T (p.Met146Ile)
|
rs63750391
|
|
NM_000021.4(PSEN1):c.440C>T (p.Thr147Ile)
|
rs63750907
|
|
NM_000021.4(PSEN1):c.457C>G (p.Leu153Val)
|
rs63751441
|
|
NM_000021.4(PSEN1):c.460T>A (p.Tyr154Asn)
|
rs63750588
|
|
NM_000021.4(PSEN1):c.461A>G (p.Tyr154Cys)
|
rs63751292
|
|
NM_000021.4(PSEN1):c.466_467insTTATAT (p.Lys155_Tyr156insPheIle)
|
rs63750631
|
|
NM_000021.4(PSEN1):c.487C>T (p.His163Tyr)
|
rs63749885
|
|
NM_000021.4(PSEN1):c.488A>G (p.His163Arg)
|
rs63750590
|
|
NM_000021.4(PSEN1):c.493T>G (p.Trp165Gly)
|
rs63751010
|
|
NM_000021.4(PSEN1):c.495G>C (p.Trp165Cys)
|
rs63751484
|
|
NM_000021.4(PSEN1):c.496_498del (p.Leu166del)
|
rs63751458
|
|
NM_000021.4(PSEN1):c.497T>G (p.Leu166Arg)
|
rs63750265
|
|
NM_000021.4(PSEN1):c.498TAT[1] (p.Ile168del)
|
rs63750879
|
|
NM_000021.4(PSEN1):c.505T>C (p.Ser169Pro)
|
rs63750418
|
|
NM_000021.4(PSEN1):c.506C>T (p.Ser169Leu)
|
rs63751210
|
|
NM_000021.4(PSEN1):c.509C>T (p.Ser170Phe)
|
rs63750577
|
|
NM_000021.4(PSEN1):c.512T>C (p.Leu171Pro)
|
rs63750963
|
|
NM_000021.4(PSEN1):c.518T>G (p.Leu173Trp)
|
rs63750299
|
|
NM_000021.4(PSEN1):c.520C>A (p.Leu174Met)
|
rs63751144
|
|
NM_000021.4(PSEN1):c.521T>G (p.Leu174Arg)
|
rs63751025
|
|
NM_000021.4(PSEN1):c.524T>C (p.Phe175Ser)
|
rs63750771
|
|
NM_000021.4(PSEN1):c.529T>C (p.Phe177Leu)
|
rs63749911
|
|
NM_000021.4(PSEN1):c.530T>C (p.Phe177Ser)
|
rs63749806
|
|
NM_000021.4(PSEN1):c.532T>C (p.Ser178Pro)
|
rs63750155
|
|
NM_000021.4(PSEN1):c.548G>T (p.Gly183Val)
|
rs63751068
|
|
NM_000021.4(PSEN1):c.552A>C (p.Glu184Asp)
|
rs63750311
|
|
NM_000021.4(PSEN1):c.616G>A (p.Gly206Ser)
|
rs63750569
|
|
NM_000021.4(PSEN1):c.617G>T (p.Gly206Val)
|
rs63750082
|
|
NM_000021.4(PSEN1):c.625G>A (p.Gly209Arg)
|
rs63749880
|
|
NM_000021.4(PSEN1):c.626G>T (p.Gly209Val)
|
rs63750053
|
|
NM_000021.4(PSEN1):c.637A>T (p.Ile213Phe)
|
rs63750861
|
|
NM_000021.4(PSEN1):c.638T>C (p.Ile213Thr)
|
rs63751309
|
|
NM_000021.4(PSEN1):c.640C>T (p.His214Tyr)
|
rs63751003
|
|
NM_000021.4(PSEN1):c.650G>A (p.Gly217Asp)
|
rs63750444
|
|
NM_000021.4(PSEN1):c.655C>T (p.Leu219Phe)
|
rs63749987
|
|
NM_000021.4(PSEN1):c.656T>C (p.Leu219Pro)
|
rs63750761
|
|
NM_000021.4(PSEN1):c.665A>G (p.Gln222Arg)
|
rs63750009
|
|
NM_000021.4(PSEN1):c.666G>C (p.Gln222His)
|
rs63751072
|
|
NM_000021.4(PSEN1):c.676C>T (p.Leu226Phe)
|
rs63750487
|
|
NM_000021.4(PSEN1):c.677T>G (p.Leu226Arg)
|
rs63749961
|
|
NM_000021.4(PSEN1):c.685A>T (p.Ile229Phe)
|
rs63749970
|
|
NM_000021.4(PSEN1):c.691G>A (p.Ala231Thr)
|
rs63749836
|
|
NM_000021.4(PSEN1):c.692C>T (p.Ala231Val)
|
rs63750799
|
|
NM_000021.4(PSEN1):c.697A>T (p.Met233Leu)
|
rs63751287
|
|
NM_000021.4(PSEN1):c.698T>C (p.Met233Thr)
|
rs63751024
|
|
NM_000021.4(PSEN1):c.699G>C (p.Met233Ile)
|
rs63751479
|
|
NM_000021.4(PSEN1):c.703C>G (p.Leu235Val)
|
rs63751130
|
|
NM_000021.4(PSEN1):c.704T>C (p.Leu235Pro)
|
rs63749835
|
|
NM_000021.4(PSEN1):c.709T>C (p.Phe237Leu)
|
rs63750858
|
|
NM_000021.4(PSEN1):c.733A>C (p.Thr245Pro)
|
rs63750888
|
|
NM_000021.4(PSEN1):c.737C>A (p.Ala246Glu)
|
rs63750526
|
|
NM_000021.4(PSEN1):c.748T>G (p.Leu250Val)
|
rs63750634
|
|
NM_000021.4(PSEN1):c.749T>C (p.Leu250Ser)
|
rs63751163
|
|
NM_000021.4(PSEN1):c.767A>C (p.Tyr256Ser)
|
rs63751320
|
|
NM_000021.4(PSEN1):c.779C>T (p.Ala260Val)
|
rs63751420
|
|
NM_000021.4(PSEN1):c.781G>T (p.Val261Phe)
|
rs63750964
|
|
NM_000021.4(PSEN1):c.786G>C (p.Leu262Phe)
|
rs63750248
|
|
NM_000021.4(PSEN1):c.787T>C (p.Cys263Arg)
|
rs63750543
|
|
NM_000021.4(PSEN1):c.788G>T (p.Cys263Phe)
|
rs63751102
|
|
NM_000021.4(PSEN1):c.791C>T (p.Pro264Leu)
|
rs63750301
|
|
NM_000021.4(PSEN1):c.799C>T (p.Pro267Ser)
|
rs63751229
|
|
NM_000021.4(PSEN1):c.800C>T (p.Pro267Leu)
|
rs63750779
|
|
NM_000021.4(PSEN1):c.805C>G (p.Arg269Gly)
|
rs63751019
|
|
NM_000021.4(PSEN1):c.811C>G (p.Leu271Val)
|
rs63750886
|
|
NM_000021.4(PSEN1):c.815T>C (p.Val272Ala)
|
rs63750680
|
|
NM_000021.4(PSEN1):c.818A>C (p.Glu273Ala)
|
rs63750772
|
|
NM_000021.4(PSEN1):c.821C>G (p.Thr274Arg)
|
rs63750284
|
|
NM_000021.4(PSEN1):c.833G>T (p.Arg278Ile)
|
rs63749891
|
|
NM_000021.4(PSEN1):c.834A>C (p.Arg278Ser)
|
rs63750524
|
|
NM_000021.4(PSEN1):c.839A>G (p.Glu280Gly)
|
rs63750231
|
|
NM_000021.4(PSEN1):c.844C>G (p.Leu282Val)
|
rs63749937
|
|
NM_000021.4(PSEN1):c.845T>G (p.Leu282Arg)
|
rs63750050
|
|
NM_000021.4(PSEN1):c.850C>T (p.Pro284Ser)
|
rs63750324
|
|
NM_000021.4(PSEN1):c.851C>T (p.Pro284Leu)
|
rs63750863
|
|
NM_000021.4(PSEN1):c.854C>T (p.Ala285Val)
|
rs63751139
|
|
NM_000021.4(PSEN1):c.856C>G (p.Leu286Val)
|
rs63751235
|
|
NM_000021.4(PSEN1):c.869-1624_956-2453del
|
|
|
NM_000021.4(PSEN1):c.869-1G>T
|
rs63750219
|
|
NM_000021.4(PSEN1):c.869-2000_956-1526del
|
|
|
NM_000021.4(PSEN1):c.871A>C (p.Thr291Pro)
|
rs63750298
|
|
NM_000447.3(PSEN2):c.254C>T (p.Ala85Val)
|
rs63750048
|
|
NM_000447.3(PSEN2):c.364A>C (p.Thr122Pro)
|
rs63749851
|
|
NM_000447.3(PSEN2):c.365C>G (p.Thr122Arg)
|
rs28936380
|
|
NM_000447.3(PSEN2):c.422A>T (p.Asn141Ile)
|
rs63750215
|
|
NM_000447.3(PSEN2):c.715A>G (p.Met239Val)
|
rs28936379
|
|
NM_000447.3(PSEN2):c.717G>A (p.Met239Ile)
|
rs63749884
|
|
NM_000484.4(APP):c.2010_2011inv (p.Lys670_Met671delinsAsnLeu)
|
rs281865161
|
|
NM_000484.4(APP):c.2030A>G (p.His677Arg)
|
rs63749953
|
|
NM_000484.4(APP):c.2032G>A (p.Asp678Asn)
|
rs63750064
|
|
NM_000484.4(APP):c.2075C>G (p.Ala692Gly)
|
rs63750671
|
|
NM_000484.4(APP):c.2077G>A (p.Glu693Lys)
|
rs63750579
|
|
NM_000484.4(APP):c.2078A>G (p.Glu693Gly)
|
rs63751039
|
|
NM_000484.4(APP):c.2080G>A (p.Asp694Asn)
|
rs63749810
|
|
NM_000484.4(APP):c.2113C>G (p.Leu705Val)
|
rs63750921
|
|
NM_000484.4(APP):c.2140A>G (p.Thr714Ala)
|
rs63750643
|
|
NM_000484.4(APP):c.2141C>T (p.Thr714Ile)
|
rs63750973
|
|
NM_000484.4(APP):c.2143G>A (p.Val715Met)
|
rs63750734
|
|
NM_000484.4(APP):c.2144T>C (p.Val715Ala)
|
rs63750868
|
|
NM_000484.4(APP):c.2145G>A (p.Val715=)
|
rs63750627
|
|
NM_000484.4(APP):c.2146A>G (p.Ile716Val)
|
rs63750399
|
|
NM_000484.4(APP):c.2147T>C (p.Ile716Thr)
|
rs63750851
|
|
NM_000484.4(APP):c.2149G>A (p.Val717Ile)
|
rs63750264
|
|
NM_000484.4(APP):c.2150T>G (p.Val717Gly)
|
rs63749964
|
|
NM_000484.4(APP):c.2168T>C (p.Leu723Pro)
|
rs63751122
|
|
NM_000484.4(APP):c.2172G>C (p.Lys724Asn)
|
rs63750151
|
|
NM_001377265.1(MAPT):c.14G>T (p.Arg5Leu)
|
rs63750959
|
|
NM_001377265.1(MAPT):c.1946A>C (p.Lys649Thr)
|
rs63750129
|
|
NM_001377265.1(MAPT):c.1954A>G (p.Ile652Val)
|
rs63751249
|
|
NM_001377265.1(MAPT):c.1972C>G (p.Leu658Val)
|
rs63750349
|
|
NM_001377265.1(MAPT):c.1991G>T (p.Gly664Val)
|
rs63750376
|
|
NM_001377265.1(MAPT):c.1999-10G>T
|
rs63749974
|
|
NM_001377265.1(MAPT):c.2013T>G (p.Asn671Lys)
|
rs63750756
|
|
NM_001377265.1(MAPT):c.2014AAG[1] (p.Lys673del)
|
rs63750688
|
|
NM_001377265.1(MAPT):c.2028T>C (p.Leu676=)
|
rs63751423
|
|
NM_001377265.1(MAPT):c.2060ATA[1] (p.Asn688del)
|
rs63751392
|
|
NM_001377265.1(MAPT):c.2062A>C (p.Asn688His)
|
rs63750416
|
|
NM_001377265.1(MAPT):c.2064T>C (p.Asn688=)
|
rs63750912
|
|
NM_001377265.1(MAPT):c.2077C>T (p.Pro693Ser)
|
rs63751438
|
|
NM_001377265.1(MAPT):c.2078C>T (p.Pro693Leu)
|
rs63751273
|
|
NM_001377265.1(MAPT):c.2084G>T (p.Gly695Val)
|
rs63751391
|
|
NM_001377265.1(MAPT):c.2090G>A (p.Ser697Asn)
|
rs63751165
|
|
NM_001377265.1(MAPT):c.2091+11T>C
|
rs63751394
|
|
NM_001377265.1(MAPT):c.2091+12C>T
|
rs63750916
|
|
NM_001377265.1(MAPT):c.2091+13A>G
|
rs63750308
|
|
NM_001377265.1(MAPT):c.2091+14C>T
|
rs63750972
|
|
NM_001377265.1(MAPT):c.2091+16C>T
|
rs63751011
|
|
NM_001377265.1(MAPT):c.2091+3G>A
|
rs63750013
|
|
NM_001377265.1(MAPT):c.2091T>C (p.Ser697=)
|
rs63750568
|
|
NM_001377265.1(MAPT):c.2120T>G (p.Leu707Arg)
|
rs63749855
|
|
NM_001377265.1(MAPT):c.2121G>A (p.Leu707=)
|
rs63751231
|
|
NM_001377265.1(MAPT):c.2126A>T (p.Lys709Met)
|
rs63750092
|
|
NM_001377265.1(MAPT):c.2135C>T (p.Ser712Phe)
|
rs63750635
|
|
NM_001377265.1(MAPT):c.2179G>A (p.Gly727Ser)
|
rs63750095
|
|
NM_001377265.1(MAPT):c.2180G>T (p.Gly727Val)
|
rs63750905
|
|
NM_001377265.1(MAPT):c.2183A>G (p.Gln728Arg)
|
rs63750573
|
|
NM_001377265.1(MAPT):c.2185G>A (p.Val729Met)
|
rs63750570
|
|
NM_001377265.1(MAPT):c.2201A>T (p.Glu734Val)
|
rs63750711
|
|
NM_001377265.1(MAPT):c.2282A>T (p.Lys761Ile)
|
rs63751264
|
|
NM_001377265.1(MAPT):c.2341G>C (p.Gly781Arg)
|
rs63750512
|
|
NM_002087.3(GRN):c.1144dup (p.Thr382Asnfs)
|
rs63749905
|
|
NM_002087.4(GRN):c.-8+3A>T
|
rs63751020
|
|
NM_002087.4(GRN):c.-8+5G>C
|
rs63750313
|
|
NM_002087.4(GRN):c.1009C>T (p.Gln337Ter)
|
rs63751406
|
|
NM_002087.4(GRN):c.102del (p.Gly35fs)
|
rs63751073
|
|
NM_002087.4(GRN):c.1095_1096del (p.Pro365_Cys366insTer)
|
rs63749988
|
|
NM_002087.4(GRN):c.1157G>A (p.Trp386Ter)
|
rs63751213
|
|
NM_002087.4(GRN):c.1201C>T (p.Gln401Ter)
|
rs63750118
|
|
NM_002087.4(GRN):c.1231_1232del (p.Val411fs)
|
rs63750351
|
|
NM_002087.4(GRN):c.1231_1232dup (p.Val411_Ala412insTer)
|
rs63750351
|
|
NM_002087.4(GRN):c.1252C>T (p.Arg418Ter)
|
rs63751180
|
|
NM_002087.4(GRN):c.138+1G>A
|
rs63749844
|
|
NM_002087.4(GRN):c.1395dup (p.Cys466fs)
|
rs63749951
|
|
NM_002087.4(GRN):c.1402C>T (p.Gln468Ter)
|
rs63749908
|
|
NM_002087.4(GRN):c.1422C>T (p.Cys474=)
|
rs63751470
|
|
NM_002087.4(GRN):c.154del (p.Thr52fs)
|
rs63751092
|
|
NM_002087.4(GRN):c.158T>C (p.Leu53Pro)
|
rs63750481
|
|
NM_002087.4(GRN):c.1623G>C (p.Trp541Cys)
|
rs63751060
|
|
NM_002087.4(GRN):c.1666C>T (p.Arg556Cys)
|
rs63750116
|
|
NM_002087.4(GRN):c.234_235del (p.Gly79fs)
|
rs63750373
|
|
NM_002087.4(GRN):c.243del (p.Ser82fs)
|
rs63751193
|
|
NM_002087.4(GRN):c.264G>A (p.Glu88=)
|
rs63751166
|
|
NM_002087.4(GRN):c.26C>A (p.Ala9Asp)
|
rs63751243
|
|
NM_002087.4(GRN):c.313T>C (p.Cys105Arg)
|
rs63750441
|
|
NM_002087.4(GRN):c.317G>A (p.Ser106Asn)
|
rs63750202
|
|
NM_002087.4(GRN):c.328C>T (p.Arg110Ter)
|
rs63750411
|
|
NM_002087.4(GRN):c.361del (p.Val121fs)
|
rs63749940
|
|
NM_002087.4(GRN):c.373C>T (p.Gln125Ter)
|
rs63750077
|
|
NM_002087.4(GRN):c.380_381del (p.Pro127fs)
|
rs63750405
|
|
NM_002087.4(GRN):c.384_387del (p.Gln130fs)
|
rs63750768
|
|
NM_002087.4(GRN):c.388_391del (p.Gln130fs)
|
rs63749801
|
|
NM_002087.4(GRN):c.3G>A (p.Met1Ile)
|
rs63750331
|
|
NM_002087.4(GRN):c.463-1G>A
|
rs63750536
|
|
NM_002087.4(GRN):c.468_474del (p.Cys157fs)
|
rs63750247
|
|
NM_002087.4(GRN):c.63_64insC (p.Asp22fs)
|
rs63750981
|
|
NM_002087.4(GRN):c.658A>T (p.Thr220Ser)
|
rs63750683
|
|
NM_002087.4(GRN):c.675_676del (p.Ser226fs)
|
rs63751085
|
|
NM_002087.4(GRN):c.708+1G>C
|
rs63749817
|
|
NM_002087.4(GRN):c.709-2A>G
|
rs63750548
|
|
NM_002087.4(GRN):c.743C>T (p.Pro248Leu)
|
rs63750344
|
|
NM_002087.4(GRN):c.759_760del (p.Cys253_Asp254delinsTer)
|
rs63751035
|
|
NM_002087.4(GRN):c.773G>A (p.Ser258Asn)
|
rs63751000
|
|
NM_002087.4(GRN):c.781C>A (p.Leu261Ile)
|
rs63750435
|
|
NM_002087.4(GRN):c.813_816del (p.Thr272fs)
|
rs63749877
|
|
NM_002087.4(GRN):c.835_835+1insCTGA
|
rs63750976
|
|
NM_002087.4(GRN):c.836-1G>C
|
rs63751296
|
|
NM_002087.4(GRN):c.87_90dup (p.Cys31fs)
|
rs63751057
|
|
NM_002087.4(GRN):c.909del (p.Trp304fs)
|
rs63750366
|
|
NM_002087.4(GRN):c.910_911insTG (p.Trp304fs)
|
rs63751239
|
|
NM_002087.4(GRN):c.911G>A (p.Trp304Ter)
|
rs63751177
|
|
NM_002087.4(GRN):c.933+1G>A
|
rs63750707
|
|
NM_002087.4(GRN):c.942C>A (p.Cys314Ter)
|
rs63750926
|
|
NM_002087.4(GRN):c.996G>A (p.Lys332=)
|
rs63750785
|
|
NM_002087.4(GRN):c.998del (p.Gly333fs)
|
rs63750873
|
|
NM_002087.4(GRN):c.99C>T (p.Asp33=)
|
rs63750742
|
|
NM_014043.4(CHMP2B):c.442G>T (p.Asp148Tyr)
|
rs63750653
|
|
NM_014043.4(CHMP2B):c.493C>T (p.Gln165Ter)
|
rs63750355
|
|
NM_014043.4(CHMP2B):c.532-1G>C
|
rs63750652
|
|
NM_014043.4(CHMP2B):c.618A>C (p.Gln206His)
|
rs63751126
|
|