NM_000021.4(PSEN1):c.868+16G>T
|
rs165932
|
0.61457
|
NM_000021.3(PSEN1):c.-296C>T
|
rs1800839
|
0.05747
|
NM_000021.4(PSEN1):c.1248+8T>C
|
rs362382
|
0.01609
|
NM_000021.4(PSEN1):c.953A>G (p.Glu318Gly)
|
rs17125721
|
0.01497
|
NM_000021.3(PSEN1):c.-528C>G
|
rs34086577
|
0.00339
|
NM_000021.4(PSEN1):c.321C>G (p.Thr107=)
|
rs139863395
|
0.00150
|
NM_000021.4(PSEN1):c.1017A>G (p.Glu339=)
|
rs201776669
|
0.00041
|
NM_000021.4(PSEN1):c.1002C>T (p.Gly334=)
|
rs116640707
|
0.00037
|
NM_000021.4(PSEN1):c.104G>A (p.Arg35Gln)
|
rs63750592
|
0.00030
|
NM_000021.4(PSEN1):c.711T>C (p.Phe237=)
|
rs750352441
|
0.00016
|
NM_000021.4(PSEN1):c.145C>G (p.Pro49Ala)
|
rs200373970
|
0.00015
|
NM_000021.4(PSEN1):c.234C>T (p.Gly78=)
|
rs143782428
|
0.00012
|
NM_000021.4(PSEN1):c.617G>C (p.Gly206Ala)
|
rs63750082
|
0.00012
|
NM_000021.4(PSEN1):c.654A>G (p.Pro218=)
|
rs115760359
|
0.00011
|
NM_000021.4(PSEN1):c.1377A>G (p.Gln459=)
|
rs201496204
|
0.00009
|
NM_000021.4(PSEN1):c.366C>T (p.Thr122=)
|
rs201644344
|
0.00008
|
NM_000021.4(PSEN1):c.480+17G>A
|
rs375376095
|
0.00008
|
NM_000021.4(PSEN1):c.998A>G (p.Asp333Gly)
|
rs121917809
|
0.00008
|
NM_000021.4(PSEN1):c.1347A>G (p.Thr449=)
|
rs199632597
|
0.00006
|
NM_000021.4(PSEN1):c.337C>T (p.Leu113=)
|
rs201500006
|
0.00006
|
NM_000021.4(PSEN1):c.909G>A (p.Pro303=)
|
rs377053325
|
0.00006
|
NM_000021.4(PSEN1):c.236C>T (p.Ala79Val)
|
rs63749824
|
0.00004
|
NM_000021.4(PSEN1):c.459G>T (p.Leu153=)
|
rs753457678
|
0.00004
|
NM_000021.4(PSEN1):c.566A>G (p.Tyr189Cys)
|
rs556147068
|
0.00004
|
NM_000021.4(PSEN1):c.932A>G (p.Lys311Arg)
|
rs115865530
|
0.00004
|
NM_000021.4(PSEN1):c.1078G>A (p.Ala360Thr)
|
rs199715992
|
0.00003
|
NM_000021.4(PSEN1):c.138C>T (p.His46=)
|
rs116882898
|
0.00003
|
NM_000021.4(PSEN1):c.1309A>G (p.Ile437Val)
|
rs764971634
|
0.00002
|
NM_000021.4(PSEN1):c.1311C>T (p.Ile437=)
|
rs201453174
|
0.00002
|
NM_000021.4(PSEN1):c.501T>C (p.Ile167=)
|
rs199637432
|
0.00002
|
NM_000021.4(PSEN1):c.813G>T (p.Leu271=)
|
rs757698754
|
0.00002
|
NM_000021.4(PSEN1):c.1034A>G (p.Asp345Gly)
|
rs1018763711
|
0.00001
|
NM_000021.4(PSEN1):c.1225G>A (p.Ala409Thr)
|
rs63750227
|
0.00001
|
NM_000021.4(PSEN1):c.1279A>G (p.Ile427Val)
|
rs1398951357
|
0.00001
|
NM_000021.4(PSEN1):c.161G>A (p.Arg54Gln)
|
rs201216284
|
0.00001
|
NM_000021.4(PSEN1):c.178C>T (p.Arg60Trp)
|
rs777427451
|
0.00001
|
NM_000021.4(PSEN1):c.264T>C (p.Pro88=)
|
rs201113902
|
0.00001
|
NM_000021.4(PSEN1):c.280G>A (p.Val94Met)
|
rs63750831
|
0.00001
|
NM_000021.4(PSEN1):c.339A>G (p.Leu113=)
|
rs1382127121
|
0.00001
|
NM_000021.4(PSEN1):c.370A>G (p.Thr124Ala)
|
rs771002035
|
0.00001
|
NM_000021.4(PSEN1):c.442A>G (p.Ile148Val)
|
rs747363386
|
0.00001
|
NM_000021.4(PSEN1):c.571G>A (p.Val191Ile)
|
rs750585566
|
0.00001
|
NM_000021.4(PSEN1):c.622G>T (p.Val208Leu)
|
rs543391977
|
0.00001
|
NM_000021.4(PSEN1):c.659G>A (p.Arg220Gln)
|
rs763831389
|
0.00001
|
NM_000021.4(PSEN1):c.798T>A (p.Gly266=)
|
rs752833058
|
0.00001
|
NM_000021.4(PSEN1):c.79C>T (p.Arg27Cys)
|
rs886050663
|
0.00001
|
NM_000021.4(PSEN1):c.801A>G (p.Pro267=)
|
rs758814165
|
0.00001
|
NM_000021.4(PSEN1):c.806G>A (p.Arg269His)
|
rs63750900
|
0.00001
|
NM_000021.4(PSEN1):c.956-20A>C
|
rs763638380
|
0.00001
|
NC_000014.8:g.(?_73673074)_(73673200_?)del
|
|
|
NC_000014.9:g.73136378del
|
rs148370307
|
|
NM_000021.4(PSEN1):c.-136+213G>A
|
rs199959804
|
|
NM_000021.4(PSEN1):c.1003G>A (p.Gly335Arg)
|
rs138871096
|
|
NM_000021.4(PSEN1):c.1005G>T (p.Gly335=)
|
|
|
NM_000021.4(PSEN1):c.1055G>A (p.Arg352His)
|
|
|
NM_000021.4(PSEN1):c.1063C>T (p.Pro355Ser)
|
rs376433615
|
|
NM_000021.4(PSEN1):c.1071A>G (p.Ser357=)
|
|
|
NM_000021.4(PSEN1):c.1073G>C (p.Arg358Pro)
|
rs63751174
|
|
NM_000021.4(PSEN1):c.1081G>C (p.Val361Leu)
|
rs1019919048
|
|
NM_000021.4(PSEN1):c.1087G>C (p.Glu363Gln)
|
|
|
NM_000021.4(PSEN1):c.1094C>T (p.Ser365Phe)
|
|
|
NM_000021.4(PSEN1):c.1107C>T (p.Leu369=)
|
|
|
NM_000021.4(PSEN1):c.1129A>T (p.Arg377Trp)
|
rs1555357544
|
|
NM_000021.4(PSEN1):c.1130-13del
|
|
|
NM_000021.4(PSEN1):c.1141C>T (p.Leu381Phe)
|
rs63750687
|
|
NM_000021.4(PSEN1):c.1148T>G (p.Leu383Trp)
|
rs1566656647
|
|
NM_000021.4(PSEN1):c.1156T>G (p.Phe386Val)
|
|
|
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.1184A>T (p.Lys395Ile)
|
|
|
NM_000021.4(PSEN1):c.118_120del (p.Asp40del)
|
rs759538127
|
|
NM_000021.4(PSEN1):c.1223T>C (p.Ile408Thr)
|
|
|
NM_000021.4(PSEN1):c.1229G>A (p.Cys410Tyr)
|
rs661
|
|
NM_000021.4(PSEN1):c.123A>T (p.Arg41Ser)
|
|
|
NM_000021.4(PSEN1):c.1240A>G (p.Ile414Val)
|
rs777734426
|
|
NM_000021.4(PSEN1):c.1249-6C>A
|
|
|
NM_000021.4(PSEN1):c.124C>G (p.Arg42Gly)
|
|
|
NM_000021.4(PSEN1):c.1254G>C (p.Leu418Phe)
|
rs63751316
|
|
NM_000021.4(PSEN1):c.125G>A (p.Arg42Gln)
|
rs367775281
|
|
NM_000021.4(PSEN1):c.1292C>A (p.Ala431Glu)
|
rs63750083
|
|
NM_000021.4(PSEN1):c.1306C>G (p.Pro436Ala)
|
|
|
NM_000021.4(PSEN1):c.1319C>A (p.Thr440Asn)
|
rs1900050658
|
|
NM_000021.4(PSEN1):c.1369A>G (p.Met457Val)
|
rs1430581353
|
|
NM_000021.4(PSEN1):c.1386C>T (p.Phe462=)
|
|
|
NM_000021.4(PSEN1):c.177C>A (p.Ser59=)
|
|
|
NM_000021.4(PSEN1):c.177C>T (p.Ser59=)
|
rs201998552
|
|
NM_000021.4(PSEN1):c.213G>A (p.Glu71=)
|
rs762907738
|
|
NM_000021.4(PSEN1):c.234C>A (p.Gly78=)
|
|
|
NM_000021.4(PSEN1):c.250A>G (p.Met84Val)
|
|
|
NM_000021.4(PSEN1):c.252G>C (p.Met84Ile)
|
|
|
NM_000021.4(PSEN1):c.255C>A (p.Leu85=)
|
|
|
NM_000021.4(PSEN1):c.256T>C (p.Phe86Leu)
|
|
|
NM_000021.4(PSEN1):c.262C>A (p.Pro88Thr)
|
rs1897874234
|
|
NM_000021.4(PSEN1):c.269C>G (p.Thr90Ser)
|
rs1007193620
|
|
NM_000021.4(PSEN1):c.274T>A (p.Cys92Ser)
|
|
|
NM_000021.4(PSEN1):c.308T>G (p.Val103Gly)
|
rs1897876766
|
|
NM_000021.4(PSEN1):c.308_310del (p.Val103_Ser104delinsGly)
|
|
|
NM_000021.4(PSEN1):c.323G>A (p.Arg108Gln)
|
|
|
NM_000021.4(PSEN1):c.338+7A>G
|
rs1897878139
|
|
NM_000021.4(PSEN1):c.338T>C (p.Leu113Pro)
|
rs63751399
|
|
NM_000021.4(PSEN1):c.344A>G (p.Tyr115Cys)
|
rs63750450
|
|
NM_000021.4(PSEN1):c.347C>A (p.Thr116Asn)
|
rs63750730
|
|
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.352T>G (p.Phe118Val)
|
|
|
NM_000021.4(PSEN1):c.367G>C (p.Glu123Gln)
|
rs63750378
|
|
NM_000021.4(PSEN1):c.392A>G (p.His131Arg)
|
|
|
NM_000021.4(PSEN1):c.401T>G (p.Leu134Arg)
|
rs1595002439
|
|
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.426C>T (p.Val142=)
|
|
|
NM_000021.4(PSEN1):c.427A>G (p.Ile143Val)
|
|
|
NM_000021.4(PSEN1):c.428T>C (p.Ile143Thr)
|
rs63750004
|
|
NM_000021.4(PSEN1):c.435C>T (p.Val145=)
|
rs202090424
|
|
NM_000021.4(PSEN1):c.436A>C (p.Met146Leu)
|
rs63750306
|
|
NM_000021.4(PSEN1):c.438G>T (p.Met146Ile)
|
rs63750391
|
|
NM_000021.4(PSEN1):c.466T>C (p.Tyr156His)
|
|
|
NM_000021.4(PSEN1):c.468C>T (p.Tyr156=)
|
|
|
NM_000021.4(PSEN1):c.475T>C (p.Tyr159His)
|
rs1897961716
|
|
NM_000021.4(PSEN1):c.476A>T (p.Tyr159Phe)
|
|
|
NM_000021.4(PSEN1):c.480+20C>T
|
|
|
NM_000021.4(PSEN1):c.481-13C>T
|
|
|
NM_000021.4(PSEN1):c.481G>A (p.Val161Ile)
|
rs1898533490
|
|
NM_000021.4(PSEN1):c.485T>G (p.Ile162Ser)
|
rs1898533739
|
|
NM_000021.4(PSEN1):c.488A>G (p.His163Arg)
|
rs63750590
|
|
NM_000021.4(PSEN1):c.491C>A (p.Ala164Asp)
|
|
|
NM_000021.4(PSEN1):c.504ATC[1] (p.Ser170del)
|
|
|
NM_000021.4(PSEN1):c.506C>T (p.Ser169Leu)
|
rs63751210
|
|
NM_000021.4(PSEN1):c.509C>A (p.Ser170Tyr)
|
rs63750577
|
|
NM_000021.4(PSEN1):c.512T>C (p.Leu171Pro)
|
rs63750963
|
|
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.537C>T (p.Phe179=)
|
|
|
NM_000021.4(PSEN1):c.548+13A>G
|
|
|
NM_000021.4(PSEN1):c.549-19C>A
|
rs201724748
|
|
NM_000021.4(PSEN1):c.549-4dup
|
rs763991845
|
|
NM_000021.4(PSEN1):c.550G>A (p.Glu184Lys)
|
|
|
NM_000021.4(PSEN1):c.552A>C (p.Glu184Asp)
|
rs63750311
|
|
NM_000021.4(PSEN1):c.560A>C (p.Lys187Thr)
|
rs2140093212
|
|
NM_000021.4(PSEN1):c.592G>C (p.Val198Leu)
|
|
|
NM_000021.4(PSEN1):c.617G>A (p.Gly206Asp)
|
rs63750082
|
|
NM_000021.4(PSEN1):c.626G>A (p.Gly209Glu)
|
rs63750053
|
|
NM_000021.4(PSEN1):c.626G>T (p.Gly209Val)
|
rs63750053
|
|
NM_000021.4(PSEN1):c.635C>A (p.Ser212Tyr)
|
rs1555355250
|
|
NM_000021.4(PSEN1):c.640C>A (p.His214Asn)
|
rs63751003
|
|
NM_000021.4(PSEN1):c.649G>C (p.Gly217Arg)
|
rs267606983
|
|
NM_000021.4(PSEN1):c.667C>A (p.Gln223Lys)
|
rs1898776259
|
|
NM_000021.4(PSEN1):c.679A>C (p.Ile227Leu)
|
|
|
NM_000021.4(PSEN1):c.679A>G (p.Ile227Val)
|
|
|
NM_000021.4(PSEN1):c.697A>G (p.Met233Val)
|
rs63751287
|
|
NM_000021.4(PSEN1):c.737C>A (p.Ala246Glu)
|
rs63750526
|
|
NM_000021.4(PSEN1):c.745A>C (p.Ile249Leu)
|
rs1362575880
|
|
NM_000021.4(PSEN1):c.745A>T (p.Ile249Phe)
|
rs1362575880
|
|
NM_000021.4(PSEN1):c.750G>T (p.Leu250Phe)
|
rs1898781850
|
|
NM_000021.4(PSEN1):c.766T>A (p.Tyr256Asn)
|
|
|
NM_000021.4(PSEN1):c.768T>C (p.Tyr256=)
|
|
|
NM_000021.4(PSEN1):c.774A>G (p.Leu258=)
|
|
|
NM_000021.4(PSEN1):c.779C>G (p.Ala260Gly)
|
|
|
NM_000021.4(PSEN1):c.779C>T (p.Ala260Val)
|
rs63751420
|
|
NM_000021.4(PSEN1):c.782T>C (p.Val261Ala)
|
rs199723282
|
|
NM_000021.4(PSEN1):c.791C>T (p.Pro264Leu)
|
rs63750301
|
|
NM_000021.4(PSEN1):c.792G>A (p.Pro264=)
|
|
|
NM_000021.4(PSEN1):c.792G>T (p.Pro264=)
|
rs150301281
|
|
NM_000021.4(PSEN1):c.800C>T (p.Pro267Leu)
|
rs63750779
|
|
NM_000021.4(PSEN1):c.808A>G (p.Met270Val)
|
|
|
NM_000021.4(PSEN1):c.808_810dup (p.Met270_Leu271insMet)
|
|
|
NM_000021.4(PSEN1):c.809T>C (p.Met270Thr)
|
rs1899028511
|
|
NM_000021.4(PSEN1):c.811C>G (p.Leu271Val)
|
rs63750886
|
|
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.838G>A (p.Glu280Lys)
|
rs2140105309
|
|
NM_000021.4(PSEN1):c.839A>C (p.Glu280Ala)
|
rs63750231
|
|
NM_000021.4(PSEN1):c.839A>G (p.Glu280Gly)
|
rs63750231
|
|
NM_000021.4(PSEN1):c.842C>T (p.Thr281Met)
|
|
|
NM_000021.4(PSEN1):c.843G>C (p.Thr281=)
|
rs186495252
|
|
NM_000021.4(PSEN1):c.845T>C (p.Leu282Pro)
|
|
|
NM_000021.4(PSEN1):c.868+16_868+21del
|
|
|
NM_000021.4(PSEN1):c.869-1G>A
|
rs63750219
|
|
NM_000021.4(PSEN1):c.869-2A>G
|
|
|
NM_000021.4(PSEN1):c.869-2A>T
|
rs1566650594
|
|
NM_000021.4(PSEN1):c.869-3C>A
|
rs2140125016
|
|
NM_000021.4(PSEN1):c.87+11_87+14dup
|
|
|
NM_000021.4(PSEN1):c.871A>G (p.Thr291Ala)
|
|
|
NM_000021.4(PSEN1):c.876G>C (p.Met292Ile)
|
|
|
NM_000021.4(PSEN1):c.88-7C>T
|
rs1594997672
|
|
NM_000021.4(PSEN1):c.895G>T (p.Ala299Ser)
|
|
|
NM_000021.4(PSEN1):c.906C>T (p.Asp302=)
|
|
|
NM_000021.4(PSEN1):c.907C>G (p.Pro303Ala)
|
rs1594750510
|
|
NM_000021.4(PSEN1):c.908C>T (p.Pro303Leu)
|
|
|
NM_000021.4(PSEN1):c.918A>C (p.Gln306His)
|
rs1256981707
|
|
NM_000021.4(PSEN1):c.936T>G (p.Asn312Lys)
|
|
|
NM_000021.4(PSEN1):c.955+11T>G
|
|
|
NM_000021.4(PSEN1):c.955+16T>G
|
|
|
NM_000021.4(PSEN1):c.955A>T (p.Ser319Cys)
|
rs2140125296
|
|
NM_000021.4(PSEN1):c.95A>G (p.Asn32Ser)
|
|
|