NM_000021.4(PSEN1):c.*328C>T
|
rs200067194
|
0.00074
|
NM_000021.4(PSEN1):c.*71A>G
|
rs201452973
|
0.00053
|
NM_000021.4(PSEN1):c.-191C>T
|
rs199680675
|
0.00053
|
NM_000021.4(PSEN1):c.*807G>A
|
rs202083888
|
0.00049
|
NM_000021.4(PSEN1):c.-180C>T
|
rs200632899
|
0.00046
|
NM_000021.4(PSEN1):c.*3848G>C
|
rs886050682
|
0.00039
|
NM_000021.4(PSEN1):c.*2604C>T
|
rs773295728
|
0.00038
|
NM_000021.4(PSEN1):c.1002C>T (p.Gly334=)
|
rs116640707
|
0.00037
|
NM_000021.4(PSEN1):c.*1585A>T
|
rs185405511
|
0.00035
|
NM_000021.4(PSEN1):c.104G>A (p.Arg35Gln)
|
rs63750592
|
0.00030
|
NM_000021.4(PSEN1):c.*2659A>T
|
rs531711335
|
0.00029
|
NM_000021.4(PSEN1):c.*4078C>T
|
rs533047073
|
0.00029
|
NM_000021.4(PSEN1):c.*4367T>C
|
rs574271978
|
0.00028
|
NM_000021.4(PSEN1):c.*2325A>G
|
rs546052493
|
0.00026
|
NM_000021.4(PSEN1):c.*768A>G
|
rs200194433
|
0.00025
|
NM_000021.4(PSEN1):c.*3130C>T
|
rs550055242
|
0.00023
|
NM_000021.4(PSEN1):c.*1625A>G
|
rs750857788
|
0.00020
|
NM_000021.4(PSEN1):c.*4095A>G
|
rs369540718
|
0.00015
|
NM_000021.4(PSEN1):c.*390T>G
|
rs200372973
|
0.00014
|
NM_000021.4(PSEN1):c.*1316G>T
|
rs909535762
|
0.00013
|
NM_000021.4(PSEN1):c.234C>T (p.Gly78=)
|
rs143782428
|
0.00012
|
NM_000021.3(PSEN1):c.-226C>A
|
rs200531676
|
0.00010
|
NM_000021.4(PSEN1):c.*1418G>A
|
rs886050668
|
0.00010
|
NM_000021.4(PSEN1):c.*2865C>A
|
rs886050679
|
0.00010
|
NM_000021.4(PSEN1):c.*1980C>T
|
rs188214574
|
0.00009
|
NM_000021.4(PSEN1):c.1377A>G (p.Gln459=)
|
rs201496204
|
0.00009
|
NM_000021.4(PSEN1):c.*1874G>T
|
rs141117435
|
0.00007
|
NM_000021.4(PSEN1):c.*265A>G
|
rs199643125
|
0.00007
|
NM_000021.4(PSEN1):c.*2846G>A
|
rs370528248
|
0.00007
|
NM_000021.4(PSEN1):c.*1380C>T
|
rs181825217
|
0.00006
|
NM_000021.4(PSEN1):c.*1725A>G
|
rs886050671
|
0.00006
|
NM_000021.4(PSEN1):c.*211G>A
|
rs200186908
|
0.00006
|
NM_000021.4(PSEN1):c.*2161G>A
|
rs535590491
|
0.00006
|
NM_000021.4(PSEN1):c.*229C>T
|
rs199738569
|
0.00006
|
NM_000021.4(PSEN1):c.337C>T (p.Leu113=)
|
rs201500006
|
0.00006
|
NM_000021.4(PSEN1):c.*119T>C
|
rs201908084
|
0.00005
|
NM_000021.4(PSEN1):c.*3789G>A
|
rs867100875
|
0.00005
|
NM_000021.4(PSEN1):c.*4338A>G
|
rs1032264220
|
0.00005
|
NM_000021.3(PSEN1):c.-214T>G
|
rs886050662
|
0.00004
|
NM_000021.4(PSEN1):c.*1415C>A
|
rs574671310
|
0.00004
|
NM_000021.4(PSEN1):c.*1889A>G
|
rs1220105113
|
0.00004
|
NM_000021.4(PSEN1):c.*2401C>T
|
rs886050676
|
0.00004
|
NM_000021.4(PSEN1):c.*3199C>T
|
rs371718090
|
0.00004
|
NM_000021.4(PSEN1):c.103C>T (p.Arg35Trp)
|
rs746691776
|
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.*1792T>C
|
rs886050672
|
0.00003
|
NM_000021.4(PSEN1):c.*1958T>C
|
rs779158922
|
0.00003
|
NM_000021.4(PSEN1):c.*2160C>T
|
rs886050674
|
0.00003
|
NM_000021.4(PSEN1):c.*2330G>T
|
rs886050675
|
0.00003
|
NM_000021.4(PSEN1):c.*2836C>T
|
rs886050678
|
0.00003
|
NM_000021.4(PSEN1):c.1078G>A (p.Ala360Thr)
|
rs199715992
|
0.00003
|
NM_000021.4(PSEN1):c.21G>A (p.Pro7=)
|
rs116466962
|
0.00003
|
NM_000021.4(PSEN1):c.*1360G>C
|
rs886050667
|
0.00002
|
NM_000021.4(PSEN1):c.*1626C>A
|
rs886050669
|
0.00001
|
NM_000021.4(PSEN1):c.*2357T>A
|
rs1250635285
|
0.00001
|
NM_000021.4(PSEN1):c.*23T>C
|
rs886050664
|
0.00001
|
NM_000021.4(PSEN1):c.*3619A>G
|
rs886050681
|
0.00001
|
NM_000021.4(PSEN1):c.*3669G>A
|
rs748848893
|
0.00001
|
NM_000021.4(PSEN1):c.*4339T>C
|
rs757221245
|
0.00001
|
NM_000021.4(PSEN1):c.1034A>G (p.Asp345Gly)
|
rs1018763711
|
0.00001
|
NM_000021.4(PSEN1):c.1167C>T (p.Tyr389=)
|
rs1899950667
|
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.1315A>G (p.Ile439Val)
|
rs63750249
|
0.00001
|
NM_000021.4(PSEN1):c.178C>T (p.Arg60Trp)
|
rs777427451
|
0.00001
|
NM_000021.4(PSEN1):c.280G>A (p.Val94Met)
|
rs63750831
|
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.784T>C (p.Leu262=)
|
rs1369926746
|
0.00001
|
NM_000021.4(PSEN1):c.79C>T (p.Arg27Cys)
|
rs886050663
|
0.00001
|
NM_000021.4(PSEN1):c.80G>A (p.Arg27His)
|
rs149562759
|
0.00001
|
NM_000021.3(PSEN1):c.-241G>T
|
rs886050661
|
|
NM_000021.4(PSEN1):c.*1145G>A
|
rs886050666
|
|
NM_000021.4(PSEN1):c.*1716TATGA[4]
|
rs886050670
|
|
NM_000021.4(PSEN1):c.*1858T>A
|
rs1943770310
|
|
NM_000021.4(PSEN1):c.*1867ACAG[1]
|
rs563773430
|
|
NM_000021.4(PSEN1):c.*1884G>T
|
rs1900111689
|
|
NM_000021.4(PSEN1):c.*1910A>G
|
rs1900112018
|
|
NM_000021.4(PSEN1):c.*2633G>A
|
rs564490926
|
|
NM_000021.4(PSEN1):c.*2695G>A
|
rs1900127252
|
|
NM_000021.4(PSEN1):c.*2758T>G
|
rs886050677
|
|
NM_000021.4(PSEN1):c.*3033CT[2]
|
rs886050680
|
|
NM_000021.4(PSEN1):c.*3321G>C
|
rs983079104
|
|
NM_000021.4(PSEN1):c.*3484A>C
|
rs1900141899
|
|
NM_000021.4(PSEN1):c.*360A>C
|
rs202176028
|
|
NM_000021.4(PSEN1):c.*400G>A
|
rs1190503987
|
|
NM_000021.4(PSEN1):c.*438C>T
|
rs1900072345
|
|
NM_000021.4(PSEN1):c.*562T>C
|
rs1594760800
|
|
NM_000021.4(PSEN1):c.*595T>C
|
rs886050665
|
|
NM_000021.4(PSEN1):c.*657C>T
|
rs201752111
|
|
NM_000021.4(PSEN1):c.*801C>T
|
rs201513640
|
|
NM_000021.4(PSEN1):c.-201A>C
|
rs1896745950
|
|
NM_000021.4(PSEN1):c.1003G>A (p.Gly335Arg)
|
rs138871096
|
|
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.1148T>G (p.Leu383Trp)
|
rs1566656647
|
|
NM_000021.4(PSEN1):c.1156T>G (p.Phe386Val)
|
|
|
NM_000021.4(PSEN1):c.1163T>C (p.Phe388Ser)
|
|
|
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.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.125G>A (p.Arg42Gln)
|
rs367775281
|
|
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.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.308_310del (p.Val103_Ser104delinsGly)
|
|
|
NM_000021.4(PSEN1):c.323G>A (p.Arg108Gln)
|
|
|
NM_000021.4(PSEN1):c.352T>G (p.Phe118Val)
|
|
|
NM_000021.4(PSEN1):c.367G>C (p.Glu123Gln)
|
rs63750378
|
|
NM_000021.4(PSEN1):c.375G>C (p.Val125=)
|
rs1897955823
|
|
NM_000021.4(PSEN1):c.392A>G (p.His131Arg)
|
|
|
NM_000021.4(PSEN1):c.401T>G (p.Leu134Arg)
|
rs1595002439
|
|
NM_000021.4(PSEN1):c.466T>C (p.Tyr156His)
|
|
|
NM_000021.4(PSEN1):c.475T>C (p.Tyr159His)
|
rs1897961716
|
|
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.491C>A (p.Ala164Asp)
|
|
|
NM_000021.4(PSEN1):c.504ATC[1] (p.Ser170del)
|
|
|
NM_000021.4(PSEN1):c.509C>A (p.Ser170Tyr)
|
rs63750577
|
|
NM_000021.4(PSEN1):c.514TTG[1] (p.Leu174del)
|
rs1595026031
|
|
NM_000021.4(PSEN1):c.532T>C (p.Ser178Pro)
|
rs63750155
|
|
NM_000021.4(PSEN1):c.550G>A (p.Glu184Lys)
|
|
|
NM_000021.4(PSEN1):c.551A>G (p.Glu184Gly)
|
rs1566641934
|
|
NM_000021.4(PSEN1):c.560A>C (p.Lys187Thr)
|
rs2140093212
|
|
NM_000021.4(PSEN1):c.592G>C (p.Val198Leu)
|
|
|
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.768T>C (p.Tyr256=)
|
|
|
NM_000021.4(PSEN1):c.792G>T (p.Pro264=)
|
rs150301281
|
|
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.821C>G (p.Thr274Arg)
|
rs63750284
|
|
NM_000021.4(PSEN1):c.842C>T (p.Thr281Met)
|
|
|
NM_000021.4(PSEN1):c.869-3C>A
|
rs2140125016
|
|
NM_000021.4(PSEN1):c.871A>G (p.Thr291Ala)
|
|
|
NM_000021.4(PSEN1):c.876G>C (p.Met292Ile)
|
|
|
NM_000021.4(PSEN1):c.895G>T (p.Ala299Ser)
|
|
|
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.955A>T (p.Ser319Cys)
|
rs2140125296
|
|