NM_000021.4(PSEN1):c.953A>G (p.Glu318Gly)
|
rs17125721
|
0.01497
|
NM_000021.4(PSEN1):c.104G>A (p.Arg35Gln)
|
rs63750592
|
0.00030
|
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_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_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
|
|