NM_000447.3(PSEN2):c.69T>C (p.Ala23=)
|
rs11405
|
0.77636
|
NM_000021.4(PSEN1):c.868+16G>T
|
rs165932
|
0.61457
|
NM_000447.3(PSEN2):c.261C>T (p.His87=)
|
rs1046240
|
0.48653
|
NM_000447.3(PSEN2):c.129C>T (p.Asn43=)
|
rs6759
|
0.48630
|
NM_000021.3(PSEN1):c.-296C>T
|
rs1800839
|
0.05747
|
NM_000447.3(PSEN2):c.903G>T (p.Thr301=)
|
rs6426553
|
0.03334
|
NM_000447.3(PSEN2):c.708T>C (p.Ser236=)
|
rs61730652
|
0.03044
|
NM_000484.4(APP):c.1614T>C (p.Tyr538=)
|
rs45537238
|
0.02492
|
NM_000021.4(PSEN1):c.1248+8T>C
|
rs362382
|
0.01609
|
NM_000021.4(PSEN1):c.953A>G (p.Glu318Gly)
|
rs17125721
|
0.01497
|
NM_000447.3(PSEN2):c.441C>T (p.Ser147=)
|
rs114334281
|
0.01441
|
NM_000447.3(PSEN2):c.185G>A (p.Arg62His)
|
rs58973334
|
0.01433
|
NM_000484.4(APP):c.1299+9T>C
|
rs114675472
|
0.01268
|
NM_000484.4(APP):c.1224+20C>T
|
rs45543035
|
0.01021
|
NM_000484.4(APP):c.2133C>A (p.Val711=)
|
rs116650065
|
0.00856
|
NM_000447.3(PSEN2):c.756G>C (p.Ala252=)
|
rs147702142
|
0.00621
|
NM_000447.3(PSEN2):c.1176C>T (p.Phe392=)
|
rs115652716
|
0.00524
|
NM_000447.3(PSEN2):c.423C>T (p.Asn141=)
|
rs116003409
|
0.00481
|
NM_000484.4(APP):c.1840A>G (p.Ser614Gly)
|
rs112263157
|
0.00475
|
NM_000447.3(PSEN2):c.861C>T (p.Pro287=)
|
rs75733498
|
0.00436
|
NM_000447.3(PSEN2):c.132T>A (p.Thr44=)
|
rs143227762
|
0.00413
|
NM_000447.3(PSEN2):c.211C>T (p.Arg71Trp)
|
rs140501902
|
0.00349
|
NM_000484.4(APP):c.2124C>T (p.Gly708=)
|
rs148888161
|
0.00348
|
NM_000021.3(PSEN1):c.-528C>G
|
rs34086577
|
0.00339
|
NM_000447.3(PSEN2):c.1200T>C (p.Cys400=)
|
rs138494303
|
0.00248
|
NM_000484.3(APP):c.-626C>T
|
rs139885956
|
0.00230
|
NM_000484.4(APP):c.2212-11_2212-10del
|
rs112965435
|
0.00206
|
NM_000484.4(APP):c.826A>T (p.Thr276Ser)
|
rs202198008
|
0.00176
|
NM_000021.4(PSEN1):c.321C>G (p.Thr107=)
|
rs139863395
|
0.00150
|
NM_000484.4(APP):c.1795G>A (p.Glu599Lys)
|
rs140304729
|
0.00143
|
NM_000484.4(APP):c.2217C>T (p.Asp739=)
|
rs145277462
|
0.00115
|
NM_000484.4(APP):c.1458+19G>A
|
rs112732953
|
0.00109
|
NM_000484.4(APP):c.741C>T (p.Asp247=)
|
rs148832151
|
0.00106
|
NC_000021.9:g.26171301C>T
|
rs187510057
|
0.00096
|
NM_000447.3(PSEN2):c.366G>A (p.Thr122=)
|
rs148996705
|
0.00094
|
NM_000484.4(APP):c.663-7T>C
|
rs183084252
|
0.00089
|
NM_000484.4(APP):c.2212-10T>C
|
rs45513597
|
0.00081
|
NM_000447.3(PSEN2):c.389C>T (p.Ser130Leu)
|
rs63750197
|
0.00073
|
NM_000484.4(APP):c.1305C>T (p.Phe435=)
|
rs148180403
|
0.00069
|
NM_000447.3(PSEN2):c.162G>C (p.Glu54Asp)
|
rs146894466
|
0.00063
|
NM_000447.3(PSEN2):c.336C>T (p.Tyr112=)
|
rs200610057
|
0.00050
|
NM_000484.4(APP):c.1810G>A (p.Val604Met)
|
rs199887707
|
0.00050
|
NM_000484.4(APP):c.663-9C>A
|
rs199587668
|
0.00045
|
NM_000484.4(APP):c.592T>C (p.Ser198Pro)
|
rs145081708
|
0.00043
|
NM_000021.4(PSEN1):c.1017A>G (p.Glu339=)
|
rs201776669
|
0.00041
|
NM_000447.3(PSEN2):c.754G>A (p.Ala252Thr)
|
rs138836272
|
0.00041
|
NM_000484.4(APP):c.226G>A (p.Val76Ile)
|
rs151188448
|
0.00039
|
NM_000021.4(PSEN1):c.1002C>T (p.Gly334=)
|
rs116640707
|
0.00037
|
NM_000484.4(APP):c.1225-11T>A
|
rs201326163
|
0.00034
|
NM_000447.3(PSEN2):c.690C>G (p.Ala230=)
|
rs145010538
|
0.00033
|
NM_000484.4(APP):c.225+19C>G
|
rs55661697
|
0.00032
|
NM_000447.3(PSEN2):c.520A>G (p.Met174Val)
|
rs61757781
|
0.00031
|
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_000447.3(PSEN2):c.184C>T (p.Arg62Cys)
|
rs150400387
|
0.00029
|
NM_000484.4(APP):c.742G>A (p.Asp248Asn)
|
rs200103591
|
0.00028
|
NM_000447.3(PSEN2):c.753C>T (p.Ser251=)
|
rs200332829
|
0.00026
|
NM_000447.3(PSEN2):c.954C>T (p.Pro318=)
|
rs199587016
|
0.00022
|
NM_000447.3(PSEN2):c.100G>A (p.Gly34Ser)
|
rs200636353
|
0.00019
|
NM_000484.4(APP):c.1800G>A (p.Thr600=)
|
rs138434918
|
0.00019
|
NM_000484.4(APP):c.982C>T (p.Arg328Trp)
|
rs200978018
|
0.00019
|
NM_000447.3(PSEN2):c.149A>G (p.Gln50Arg)
|
rs143501870
|
0.00018
|
NM_000447.3(PSEN2):c.166G>A (p.Gly56Ser)
|
rs188598190
|
0.00018
|
NM_000484.4(APP):c.1794C>T (p.Thr598=)
|
rs201817181
|
0.00018
|
NM_000447.3(PSEN2):c.66G>A (p.Ser22=)
|
rs367645069
|
0.00017
|
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_000447.3(PSEN2):c.772G>A (p.Ala258Thr)
|
rs148238688
|
0.00014
|
NM_000447.3(PSEN2):c.886+16G>A
|
rs202005802
|
0.00014
|
NM_000484.4(APP):c.1689T>C (p.Asp563=)
|
rs137865262
|
0.00014
|
NM_000447.3(PSEN2):c.165C>T (p.Asp55=)
|
rs139332886
|
0.00013
|
NM_000447.3(PSEN2):c.207C>T (p.Pro69=)
|
rs142546082
|
0.00013
|
NM_000484.4(APP):c.355+9G>A
|
rs371324252
|
0.00013
|
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_000484.4(APP):c.1833A>G (p.Gly611=)
|
rs200922667
|
0.00012
|
NM_000021.4(PSEN1):c.654A>G (p.Pro218=)
|
rs115760359
|
0.00011
|
NM_000447.3(PSEN2):c.1163C>T (p.Thr388Met)
|
rs143549266
|
0.00011
|
NM_000447.3(PSEN2):c.1177G>A (p.Val393Met)
|
rs142690225
|
0.00011
|
NM_000447.3(PSEN2):c.1330C>T (p.His444Tyr)
|
rs151048692
|
0.00011
|
NM_000447.3(PSEN2):c.640G>T (p.Val214Leu)
|
rs574125890
|
0.00011
|
NM_000447.3(PSEN2):c.956A>G (p.Tyr319Cys)
|
rs547494670
|
0.00011
|
NM_000484.4(APP):c.225+14G>A
|
rs199644062
|
0.00011
|
NM_000484.4(APP):c.602C>T (p.Ala201Val)
|
rs149995579
|
0.00011
|
NM_000447.3(PSEN2):c.300C>T (p.Ile100=)
|
rs200801915
|
0.00010
|
NM_000021.4(PSEN1):c.1377A>G (p.Gln459=)
|
rs201496204
|
0.00009
|
NM_000484.4(APP):c.1248A>G (p.Ala416=)
|
rs556540232
|
0.00009
|
NM_000484.4(APP):c.225+7C>A
|
rs201865168
|
0.00009
|
NM_000484.4(APP):c.57+16C>T
|
rs201003643
|
0.00009
|
NM_000484.4(APP):c.786C>T (p.Tyr262=)
|
rs140941257
|
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_000484.4(APP):c.1091-18T>G
|
rs201718786
|
0.00008
|
NM_000484.4(APP):c.1650C>T (p.Asn550=)
|
rs201877705
|
0.00007
|
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_000447.3(PSEN2):c.1304G>A (p.Arg435Gln)
|
rs201922151
|
0.00006
|
NM_000447.3(PSEN2):c.639A>G (p.Ala213=)
|
rs555809980
|
0.00006
|
NM_000484.4(APP):c.1458+9C>T
|
rs201937048
|
0.00006
|
NM_000484.4(APP):c.1790T>G (p.Leu597Trp)
|
rs765301301
|
0.00006
|
NM_000484.4(APP):c.2137G>A (p.Ala713Thr)
|
rs63750066
|
0.00006
|
NM_000484.4(APP):c.704C>T (p.Ala235Val)
|
rs139819006
|
0.00006
|
NM_000484.4(APP):c.975C>T (p.Gly325=)
|
rs201622977
|
0.00006
|
NM_000447.3(PSEN2):c.208G>A (p.Gly70Arg)
|
rs139972151
|
0.00005
|
NM_000484.4(APP):c.1726G>A (p.Val576Ile)
|
rs200769792
|
0.00005
|
NM_000484.4(APP):c.47G>A (p.Arg16Gln)
|
rs955517095
|
0.00005
|
NM_000484.4(APP):c.885C>T (p.Ala295=)
|
rs199890425
|
0.00005
|
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_000447.3(PSEN2):c.1316A>C (p.Asp439Ala)
|
rs63750110
|
0.00004
|
NM_000447.3(PSEN2):c.487C>T (p.Arg163Cys)
|
rs200931244
|
0.00004
|
NM_000447.3(PSEN2):c.505C>A (p.His169Asn)
|
rs533813519
|
0.00004
|
NM_000447.3(PSEN2):c.80C>T (p.Thr27Met)
|
rs149354305
|
0.00004
|
NM_000447.3(PSEN2):c.85C>T (p.Arg29Cys)
|
rs142892469
|
0.00004
|
NM_000484.4(APP):c.1024G>A (p.Gly342Ser)
|
rs200727285
|
0.00004
|
NM_000484.4(APP):c.1406G>A (p.Arg469His)
|
rs199549173
|
0.00004
|
NM_000484.4(APP):c.1751C>G (p.Pro584Arg)
|
rs145371658
|
0.00004
|
NM_000484.4(APP):c.1809C>T (p.Thr603=)
|
rs150151009
|
0.00004
|
NM_000484.4(APP):c.186C>T (p.Cys62=)
|
rs201970902
|
0.00004
|
NM_000484.4(APP):c.2020G>C (p.Glu674Gln)
|
rs752361848
|
0.00004
|
NM_000484.4(APP):c.2138C>T (p.Ala713Val)
|
rs1800557
|
0.00004
|
NM_000484.4(APP):c.298C>T (p.Arg100Trp)
|
rs200347552
|
0.00004
|
NM_000484.4(APP):c.417G>A (p.Glu139=)
|
rs779803206
|
0.00004
|
NM_000484.4(APP):c.58-11T>G
|
rs200974058
|
0.00004
|
NM_000484.4(APP):c.727G>A (p.Asp243Asn)
|
rs750279232
|
0.00004
|
NM_000484.4(APP):c.917G>A (p.Arg306His)
|
rs202218688
|
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_000447.3(PSEN2):c.1011C>T (p.Pro337=)
|
rs769386876
|
0.00003
|
NM_000447.3(PSEN2):c.156C>T (p.Asn52=)
|
rs749675208
|
0.00003
|
NM_000447.3(PSEN2):c.415G>A (p.Val139Met)
|
rs202178897
|
0.00003
|
NM_000484.4(APP):c.1033+19G>A
|
rs764443273
|
0.00003
|
NM_000484.4(APP):c.1137C>T (p.Leu379=)
|
rs199526286
|
0.00003
|
NM_000484.4(APP):c.1458+10G>A
|
rs201290605
|
0.00003
|
NM_000484.4(APP):c.1665C>T (p.Ala555=)
|
rs200846684
|
0.00003
|
NM_000484.4(APP):c.1722T>C (p.Asp574=)
|
rs201794320
|
0.00003
|
NM_000484.4(APP):c.1849G>A (p.Asp617Asn)
|
rs201479601
|
0.00003
|
NM_000484.4(APP):c.2125G>A (p.Gly709Ser)
|
rs201269325
|
0.00003
|
NM_000484.4(APP):c.225+13C>T
|
rs200888218
|
0.00003
|
NM_000484.4(APP):c.46C>T (p.Arg16Trp)
|
rs202070273
|
0.00003
|
NM_000484.4(APP):c.890C>T (p.Thr297Met)
|
rs557227002
|
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_000447.3(PSEN2):c.1160C>T (p.Thr387Ile)
|
rs867544084
|
0.00002
|
NM_000447.3(PSEN2):c.1289C>T (p.Thr430Met)
|
rs63750666
|
0.00002
|
NM_000447.3(PSEN2):c.177C>T (p.Asp59=)
|
rs767577993
|
0.00002
|
NM_000447.3(PSEN2):c.279G>C (p.Val93=)
|
rs200350640
|
0.00002
|
NM_000447.3(PSEN2):c.390G>C (p.Ser130=)
|
rs781597971
|
0.00002
|
NM_000447.3(PSEN2):c.902C>T (p.Thr301Met)
|
rs144277432
|
0.00002
|
NM_000447.3(PSEN2):c.928T>C (p.Ser310Pro)
|
rs781436525
|
0.00002
|
NM_000484.4(APP):c.1034-6C>G
|
rs767889396
|
0.00002
|
NM_000484.4(APP):c.1463G>A (p.Arg488His)
|
rs200587958
|
0.00002
|
NM_000484.4(APP):c.1688-4T>G
|
rs374277868
|
0.00002
|
NM_000484.4(APP):c.1775C>T (p.Ala592Val)
|
rs754790092
|
0.00002
|
NM_000484.4(APP):c.1860G>A (p.Pro620=)
|
rs773060369
|
0.00002
|
NM_000484.4(APP):c.504C>T (p.Tyr168=)
|
rs752661056
|
0.00002
|
NM_000484.4(APP):c.674T>C (p.Val225Ala)
|
rs746313873
|
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
|
NM_000447.3(PSEN2):c.1140G>A (p.Thr380=)
|
rs377494557
|
0.00001
|
NM_000447.3(PSEN2):c.1262C>T (p.Thr421Met)
|
rs756609078
|
0.00001
|
NM_000447.3(PSEN2):c.1269G>A (p.Gly423=)
|
rs748435174
|
0.00001
|
NM_000447.3(PSEN2):c.1284C>T (p.Phe428=)
|
rs144318314
|
0.00001
|
NM_000447.3(PSEN2):c.201G>C (p.Gly67=)
|
rs1661152624
|
0.00001
|
NM_000447.3(PSEN2):c.203T>C (p.Val68Ala)
|
rs765144719
|
0.00001
|
NM_000447.3(PSEN2):c.273G>C (p.Leu91=)
|
rs921254742
|
0.00001
|
NM_000447.3(PSEN2):c.372C>T (p.Phe124=)
|
rs753371172
|
0.00001
|
NM_000447.3(PSEN2):c.401G>A (p.Arg134His)
|
rs756346917
|
0.00001
|
NM_000447.3(PSEN2):c.442G>A (p.Val148Ile)
|
rs63750812
|
0.00001
|
NM_000447.3(PSEN2):c.448G>A (p.Val150Met)
|
rs866044092
|
0.00001
|
NM_000447.3(PSEN2):c.482A>G (p.Lys161Arg)
|
rs755101354
|
0.00001
|
NM_000447.3(PSEN2):c.683A>T (p.Gln228Leu)
|
rs63750880
|
0.00001
|
NM_000447.3(PSEN2):c.711G>A (p.Ala237=)
|
rs202003390
|
0.00001
|
NM_000447.3(PSEN2):c.712C>T (p.Leu238Phe)
|
rs367855127
|
0.00001
|
NM_000447.3(PSEN2):c.787+8G>A
|
rs751014475
|
0.00001
|
NM_000447.3(PSEN2):c.887-3C>T
|
rs1230394996
|
0.00001
|
NM_000484.4(APP):c.1030G>A (p.Ala344Thr)
|
rs201045185
|
0.00001
|
NM_000484.4(APP):c.1076G>A (p.Arg359Gln)
|
rs1057524107
|
0.00001
|
NM_000484.4(APP):c.1090+4C>T
|
rs532690231
|
0.00001
|
NM_000484.4(APP):c.1122C>T (p.Ala374=)
|
rs780257087
|
0.00001
|
NM_000484.4(APP):c.1123G>A (p.Val375Ile)
|
rs141331202
|
0.00001
|
NM_000484.4(APP):c.1210G>C (p.Glu404Gln)
|
rs201668897
|
0.00001
|
NM_000484.4(APP):c.1224+12T>C
|
rs200725014
|
0.00001
|
NM_000484.4(APP):c.130C>T (p.His44Tyr)
|
rs774281569
|
0.00001
|
NM_000484.4(APP):c.1350A>G (p.Arg450=)
|
rs746537655
|
0.00001
|
NM_000484.4(APP):c.1450C>T (p.Pro484Ser)
|
rs768238394
|
0.00001
|
NM_000484.4(APP):c.1454C>T (p.Pro485Leu)
|
rs369990738
|
0.00001
|
NM_000484.4(APP):c.1467C>T (p.His489=)
|
rs1214877315
|
0.00001
|
NM_000484.4(APP):c.1580G>A (p.Arg527Gln)
|
rs201466202
|
0.00001
|
NM_000484.4(APP):c.1651G>A (p.Val551Met)
|
rs761339914
|
0.00001
|
NM_000484.4(APP):c.1799C>T (p.Thr600Met)
|
rs200088099
|
0.00001
|
NM_000484.4(APP):c.1814A>G (p.Glu605Gly)
|
rs748980864
|
0.00001
|
NM_000484.4(APP):c.1827G>C (p.Val609=)
|
rs201858248
|
0.00001
|
NM_000484.4(APP):c.1995G>C (p.Glu665Asp)
|
rs63750363
|
0.00001
|
NM_000484.4(APP):c.19C>G (p.Leu7Val)
|
rs767211549
|
0.00001
|
NM_000484.4(APP):c.2004A>G (p.Glu668=)
|
rs1459466429
|
0.00001
|
NM_000484.4(APP):c.2070C>T (p.Phe690=)
|
rs201724975
|
0.00001
|
NM_000484.4(APP):c.2139G>A (p.Ala713=)
|
rs749919142
|
0.00001
|
NM_000484.4(APP):c.2281A>G (p.Thr761Ala)
|
rs766455623
|
0.00001
|
NM_000484.4(APP):c.283C>G (p.Gln95Glu)
|
rs950592627
|
0.00001
|
NM_000484.4(APP):c.302G>A (p.Gly101Asp)
|
rs532382285
|
0.00001
|
NM_000484.4(APP):c.33C>T (p.Ala11=)
|
rs754674097
|
0.00001
|
NM_000484.4(APP):c.355+16G>A
|
rs201791126
|
0.00001
|
NM_000484.4(APP):c.44C>T (p.Ala15Val)
|
rs913925398
|
0.00001
|
NM_000484.4(APP):c.533A>G (p.Lys178Arg)
|
rs758637653
|
0.00001
|
NM_000484.4(APP):c.618G>A (p.Ser206=)
|
rs201022619
|
0.00001
|
NM_000484.4(APP):c.735C>T (p.Asp245=)
|
rs201941279
|
0.00001
|
NM_000484.4(APP):c.736G>A (p.Glu246Lys)
|
rs147485129
|
0.00001
|
NM_000484.4(APP):c.762A>G (p.Val254=)
|
rs1386522903
|
0.00001
|
NM_000484.4(APP):c.820A>G (p.Thr274Ala)
|
rs200159151
|
0.00001
|
NM_000484.4(APP):c.964G>A (p.Gly322Ser)
|
rs866061394
|
0.00001
|
NC_000001.11:g.(?_226881888)_(226895599_?)del
|
|
|
NC_000014.8:g.(?_73673074)_(73673200_?)del
|
|
|
NC_000014.9:g.73136378del
|
rs148370307
|
|
NC_000021.8:g.(?_27113910)_(27542938_?)dup
|
|
|
NC_000021.8:g.(?_27251861)_(27544138_?)dup
|
|
|
NC_000021.8:g.(?_27253981)_(27277409_?)del
|
|
|
NC_000021.8:g.(?_27462239)_(27542938_?)dup
|
|
|
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)
|
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NM_000021.4(PSEN1):c.876G>C (p.Met292Ile)
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NM_000021.4(PSEN1):c.88-7C>T
|
rs1594997672
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NM_000021.4(PSEN1):c.895G>T (p.Ala299Ser)
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NM_000021.4(PSEN1):c.906C>T (p.Asp302=)
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NM_000021.4(PSEN1):c.907C>G (p.Pro303Ala)
|
rs1594750510
|
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NM_000021.4(PSEN1):c.908C>T (p.Pro303Leu)
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NM_000021.4(PSEN1):c.918A>C (p.Gln306His)
|
rs1256981707
|
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NM_000021.4(PSEN1):c.936T>G (p.Asn312Lys)
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|
NM_000021.4(PSEN1):c.955+11T>G
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NM_000021.4(PSEN1):c.955+16T>G
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NM_000021.4(PSEN1):c.955A>T (p.Ser319Cys)
|
rs2140125296
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NM_000021.4(PSEN1):c.95A>G (p.Asn32Ser)
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|
|
NM_000447.3(PSEN2):c.1005A>G (p.Ser335=)
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|
NM_000447.3(PSEN2):c.1005A>T (p.Ser335=)
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NM_000447.3(PSEN2):c.1009C>T (p.Pro337Ser)
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|
NM_000447.3(PSEN2):c.1023G>A (p.Glu341=)
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NM_000447.3(PSEN2):c.1040_1041del (p.Tyr347fs)
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NM_000447.3(PSEN2):c.1046G>A (p.Gly349Glu)
|
rs2102690580
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NM_000447.3(PSEN2):c.1073-10C>G
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NM_000447.3(PSEN2):c.1073-10C>T
|
rs201191318
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NM_000447.3(PSEN2):c.1092C>T (p.Leu364=)
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NM_000447.3(PSEN2):c.1139C>A (p.Thr380Lys)
|
rs143912759
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NM_000447.3(PSEN2):c.1139C>T (p.Thr380Met)
|
rs143912759
|
|
NM_000447.3(PSEN2):c.1164G>C (p.Thr388=)
|
rs369274454
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NM_000447.3(PSEN2):c.1191+8G>C
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NM_000447.3(PSEN2):c.1209C>G (p.Leu403=)
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NM_000447.3(PSEN2):c.1236G>A (p.Ala412=)
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NM_000447.3(PSEN2):c.1240C>T (p.Pro414Ser)
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NM_000447.3(PSEN2):c.1242C>T (p.Pro414=)
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NM_000447.3(PSEN2):c.1243G>A (p.Ala415Thr)
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NM_000447.3(PSEN2):c.1257C>T (p.Ser419=)
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rs2102698755
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NM_000447.3(PSEN2):c.1269G>T (p.Gly423=)
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NM_000447.3(PSEN2):c.1303C>T (p.Arg435Trp)
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NM_000447.3(PSEN2):c.1307C>T (p.Pro436Leu)
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NM_000447.3(PSEN2):c.139T>G (p.Trp47Gly)
|
rs2102668369
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NM_000447.3(PSEN2):c.141+11C>G
|
rs1249275874
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NM_000447.3(PSEN2):c.142-16A>C
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NM_000447.3(PSEN2):c.142-17G>A
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NM_000447.3(PSEN2):c.165C>A (p.Asp55Glu)
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NM_000447.3(PSEN2):c.194G>A (p.Cys65Tyr)
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NM_000447.3(PSEN2):c.205C>G (p.Pro69Ala)
|
rs202133351
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NM_000447.3(PSEN2):c.216G>A (p.Pro72=)
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NM_000447.3(PSEN2):c.241C>T (p.Leu81Phe)
|
rs1405799988
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NM_000447.3(PSEN2):c.255G>A (p.Ala85=)
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|
NM_000447.3(PSEN2):c.260_261delinsTT (p.His87Leu)
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NM_000447.3(PSEN2):c.260_261inv (p.His87Arg)
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NM_000447.3(PSEN2):c.277G>A (p.Val93Met)
|
rs2102672691
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NM_000447.3(PSEN2):c.294C>T (p.Cys98=)
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NM_000447.3(PSEN2):c.298A>G (p.Ile100Val)
|
rs1182707759
|
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NM_000447.3(PSEN2):c.305T>C (p.Val102Ala)
|
rs1571951543
|
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NM_000447.3(PSEN2):c.306G>A (p.Val102=)
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NM_000447.3(PSEN2):c.328C>T (p.Arg110Cys)
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NM_000447.3(PSEN2):c.348T>A (p.Asn116Lys)
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NM_000447.3(PSEN2):c.348T>C (p.Asn116=)
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NM_000447.3(PSEN2):c.349G>A (p.Gly117Arg)
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NM_000447.3(PSEN2):c.356+11_356+13del
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NM_000447.3(PSEN2):c.387C>T (p.Pro129=)
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NM_000447.3(PSEN2):c.38T>C (p.Val13Ala)
|
rs766853710
|
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NM_000447.3(PSEN2):c.390G>A (p.Ser130=)
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NM_000447.3(PSEN2):c.422A>T (p.Asn141Ile)
|
rs63750215
|
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NM_000447.3(PSEN2):c.427C>T (p.Leu143Phe)
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NM_000447.3(PSEN2):c.436A>T (p.Ile146Phe)
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NM_000447.3(PSEN2):c.499-15A>G
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NM_000447.3(PSEN2):c.519C>T (p.Ile173=)
|
rs2102682546
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NM_000447.3(PSEN2):c.537G>A (p.Leu179=)
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|
NM_000447.3(PSEN2):c.539T>C (p.Leu180Pro)
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NM_000447.3(PSEN2):c.54G>A (p.Thr18=)
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NM_000447.3(PSEN2):c.566G>C (p.Gly189Ala)
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NM_000447.3(PSEN2):c.588T>C (p.Asn196=)
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NM_000447.3(PSEN2):c.589G>A (p.Val197Met)
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NM_000447.3(PSEN2):c.622G>A (p.Val208Ile)
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NM_000447.3(PSEN2):c.633C>T (p.Phe211=)
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NM_000447.3(PSEN2):c.671C>T (p.Pro224Leu)
|
rs2102684411
|
|
NM_000447.3(PSEN2):c.713T>C (p.Leu238Pro)
|
|
|
NM_000447.3(PSEN2):c.744A>G (p.Pro248=)
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NM_000447.3(PSEN2):c.788-14C>T
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|
NM_000447.3(PSEN2):c.81_82delinsAA (p.Pro28Thr)
|
rs2102668085
|
|
NM_000447.3(PSEN2):c.842C>A (p.Ala281Asp)
|
|
|
NM_000447.3(PSEN2):c.843C>T (p.Ala281=)
|
rs2102686884
|
|
NM_000447.3(PSEN2):c.850A>G (p.Arg284Gly)
|
rs1208742830
|
|
NM_000447.3(PSEN2):c.864A>G (p.Ile288Met)
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|
|
NM_000447.3(PSEN2):c.877A>T (p.Ile293Leu)
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NM_000447.3(PSEN2):c.880T>G (p.Tyr294Asp)
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|
|
NM_000447.3(PSEN2):c.886+15C>T
|
|
|
NM_000447.3(PSEN2):c.886+2_886+4del
|
rs1553268799
|
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NM_000447.3(PSEN2):c.887-4C>G
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|
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NM_000447.3(PSEN2):c.893T>C (p.Met298Thr)
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|
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NM_000447.3(PSEN2):c.970+3_970+6del
|
rs775692311
|
|
NM_000447.3(PSEN2):c.971-18C>T
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NM_000447.3(PSEN2):c.971-9G>C
|
rs2102690274
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NM_000484.4(APP):c.1000G>C (p.Glu334Gln)
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|
|
NM_000484.4(APP):c.1018G>T (p.Val340Leu)
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|
NM_000484.4(APP):c.1021_1033+438del
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|
NM_000484.4(APP):c.102T>C (p.Ile34=)
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|
NM_000484.4(APP):c.1034-4A>G
|
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NM_000484.4(APP):c.1035G>T (p.Met345Ile)
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NM_000484.4(APP):c.1037C>A (p.Ser346Tyr)
|
rs1260561215
|
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NM_000484.4(APP):c.105C>A (p.Ala35=)
|
|
|
NM_000484.4(APP):c.1066C>G (p.Pro356Ala)
|
|
|
NM_000484.4(APP):c.1072G>C (p.Ala358Pro)
|
rs1008281141
|
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NM_000484.4(APP):c.1078_1087delinsC (p.Asp360_Lys363delinsGln)
|
rs1601155187
|
|
NM_000484.4(APP):c.1090+5G>A
|
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NM_000484.4(APP):c.1090C>T (p.Leu364Phe)
|
rs749453173
|
|
NM_000484.4(APP):c.1091-20_1091-18del
|
|
|
NM_000484.4(APP):c.1137C>G (p.Leu379=)
|
rs199526286
|
|
NM_000484.4(APP):c.1164T>C (p.His388=)
|
rs2042467013
|
|
NM_000484.4(APP):c.1190G>A (p.Arg397Lys)
|
rs913378009
|
|
NM_000484.4(APP):c.1191G>A (p.Arg397=)
|
|
|
NM_000484.4(APP):c.1199C>T (p.Ala400Val)
|
rs1334791875
|
|
NM_000484.4(APP):c.1224+16C>A
|
rs199585064
|
|
NM_000484.4(APP):c.1264A>C (p.Asn422His)
|
rs2146575525
|
|
NM_000484.4(APP):c.1280A>T (p.Asp427Val)
|
rs1358953437
|
|
NM_000484.4(APP):c.1288G>A (p.Ala430Thr)
|
|
|
NM_000484.4(APP):c.1293T>A (p.Val431=)
|
|
|
NM_000484.4(APP):c.1300-3C>A
|
rs1342453998
|
|
NM_000484.4(APP):c.1345G>A (p.Glu449Lys)
|
|
|
NM_000484.4(APP):c.1359G>C (p.Leu453=)
|
|
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NM_000484.4(APP):c.1366A>G (p.Thr456Ala)
|
|
|
NM_000484.4(APP):c.1369C>T (p.His457Tyr)
|
|
|
NM_000484.4(APP):c.1402C>T (p.Arg468Cys)
|
rs1162419578
|
|
NM_000484.4(APP):c.1416C>T (p.Ala472=)
|
|
|
NM_000484.4(APP):c.1434C>T (p.Thr478=)
|
|
|
NM_000484.4(APP):c.1457G>A (p.Arg486Gln)
|
rs200268317
|
|
NM_000484.4(APP):c.1458+18C>T
|
rs200083249
|
|
NM_000484.4(APP):c.1459-15A>T
|
|
|
NM_000484.4(APP):c.1462C>T (p.Arg488Cys)
|
rs2146493615
|
|
NM_000484.4(APP):c.1475A>G (p.Asn492Ser)
|
|
|
NM_000484.4(APP):c.1491T>C (p.Tyr497=)
|
rs755218930
|
|
NM_000484.4(APP):c.1498G>A (p.Ala500Thr)
|
|
|
NM_000484.4(APP):c.1569C>T (p.Ala523=)
|
|
|
NM_000484.4(APP):c.1570G>A (p.Ala524Thr)
|
|
|
NM_000484.4(APP):c.1587+14A>G
|
|
|
NM_000484.4(APP):c.1587+6C>T
|
|
|
NM_000484.4(APP):c.1587+7G>A
|
rs1463470081
|
|
NM_000484.4(APP):c.15G>C (p.Leu5Phe)
|
|
|
NM_000484.4(APP):c.1612T>C (p.Tyr538His)
|
|
|
NM_000484.4(APP):c.1646A>G (p.Tyr549Cys)
|
|
|
NM_000484.4(APP):c.1649A>G (p.Asn550Ser)
|
|
|
NM_000484.4(APP):c.1653G>A (p.Val551=)
|
|
|
NM_000484.4(APP):c.1658C>T (p.Ala553Val)
|
rs2146488766
|
|
NM_000484.4(APP):c.1680T>A (p.Asp560Glu)
|
|
|
NM_000484.4(APP):c.1684G>A (p.Val562Ile)
|
rs199586073
|
|
NM_000484.4(APP):c.1748A>G (p.Glu583Gly)
|
rs778495527
|
|
NM_000484.4(APP):c.1750C>G (p.Pro584Ala)
|
|
|
NM_000484.4(APP):c.1754G>A (p.Arg585Lys)
|
rs1265765015
|
|
NM_000484.4(APP):c.1770C>T (p.Asn590=)
|
|
|
NM_000484.4(APP):c.1815G>A (p.Glu605=)
|
|
|
NM_000484.4(APP):c.1824C>T (p.Pro608=)
|
|
|
NM_000484.4(APP):c.1848C>T (p.Asp616=)
|
|
|
NM_000484.4(APP):c.1896C>T (p.Asn632=)
|
rs2146319673
|
|
NM_000484.4(APP):c.1905C>T (p.Asn635=)
|
|
|
NM_000484.4(APP):c.1909+18C>A
|
|
|
NM_000484.4(APP):c.1909+5G>A
|
|
|
NM_000484.4(APP):c.1909+9C>T
|
rs201352332
|
|
NM_000484.4(APP):c.1910-18C>T
|
|
|
NM_000484.4(APP):c.1910-7T>C
|
rs2146296686
|
|
NM_000484.4(APP):c.1916C>A (p.Pro639His)
|
rs771964280
|
|
NM_000484.4(APP):c.1926C>T (p.Ala642=)
|
|
|
NM_000484.4(APP):c.1963+11C>T
|
rs763648992
|
|
NM_000484.4(APP):c.1963+18C>T
|
|
|
NM_000484.4(APP):c.1969G>A (p.Gly657Arg)
|
|
|
NM_000484.4(APP):c.1978A>T (p.Asn660Tyr)
|
rs770773038
|
|
NM_000484.4(APP):c.1979A>G (p.Asn660Ser)
|
|
|
NM_000484.4(APP):c.1980T>C (p.Asn660=)
|
|
|
NM_000484.4(APP):c.1988C>T (p.Thr663Met)
|
|
|
NM_000484.4(APP):c.1996A>T (p.Ile666Phe)
|
|
|
NM_000484.4(APP):c.2010G>A (p.Lys670=)
|
|
|
NM_000484.4(APP):c.2010_2011inv (p.Lys670_Met671delinsAsnLeu)
|
rs281865161
|
|
NM_000484.4(APP):c.2019A>C (p.Ala673=)
|
|
|
NM_000484.4(APP):c.2046A>G (p.Glu682=)
|
|
|
NM_000484.4(APP):c.2047G>A (p.Val683Ile)
|
|
|
NM_000484.4(APP):c.205A>G (p.Ile69Val)
|
|
|
NM_000484.4(APP):c.2064+4C>T
|
|
|
NM_000484.4(APP):c.2065-14_2065-12del
|
|
|
NM_000484.4(APP):c.2065-17_2065-15del
|
|
|
NM_000484.4(APP):c.2065-4C>T
|
|
|
NM_000484.4(APP):c.2077G>C (p.Glu693Gln)
|
rs63750579
|
|
NM_000484.4(APP):c.2079A>G (p.Glu693=)
|
rs768446605
|
|
NM_000484.4(APP):c.2080G>A (p.Asp694Asn)
|
rs63749810
|
|
NM_000484.4(APP):c.2086G>A (p.Gly696Ser)
|
|
|
NM_000484.4(APP):c.2106C>G (p.Ile702Met)
|
|
|
NM_000484.4(APP):c.2115C>T (p.Leu705=)
|
|
|
NM_000484.4(APP):c.2140A>G (p.Thr714Ala)
|
rs63750643
|
|
NM_000484.4(APP):c.2143G>A (p.Val715Met)
|
rs63750734
|
|
NM_000484.4(APP):c.2145_2146delinsTG (p.Ile716Val)
|
rs2146237965
|
|
NM_000484.4(APP):c.2147T>C (p.Ile716Thr)
|
rs63750851
|
|
NM_000484.4(APP):c.2148C>A (p.Ile716=)
|
rs145564988
|
|
NM_000484.4(APP):c.2148C>T (p.Ile716=)
|
rs145564988
|
|
NM_000484.4(APP):c.2149G>A (p.Val717Ile)
|
rs63750264
|
|
NM_000484.4(APP):c.2149G>T (p.Val717Phe)
|
rs63750264
|
|
NM_000484.4(APP):c.2211+11T>C
|
|
|
NM_000484.4(APP):c.2212-12_2212-10del
|
rs753046287
|
|
NM_000484.4(APP):c.2212-15C>T
|
|
|
NM_000484.4(APP):c.2212-9_2212-6del
|
rs765657163
|
|
NM_000484.4(APP):c.2240G>A (p.Arg747His)
|
|
|
NM_000484.4(APP):c.2241C>T (p.Arg747=)
|
rs2036996538
|
|
NM_000484.4(APP):c.2253G>C (p.Lys751Asn)
|
rs1381242897
|
|
NM_000484.4(APP):c.225A>G (p.Glu75=)
|
|
|
NM_000484.4(APP):c.226-3C>T
|
|
|
NM_000484.4(APP):c.226-6T>C
|
|
|
NM_000484.4(APP):c.226-8T>C
|
|
|
NM_000484.4(APP):c.2265C>T (p.Asn755=)
|
|
|
NM_000484.4(APP):c.2267G>A (p.Gly756Asp)
|
rs2146193044
|
|
NM_000484.4(APP):c.2271C>T (p.Tyr757=)
|
|
|
NM_000484.4(APP):c.2285A>T (p.Tyr762Phe)
|
rs373482247
|
|
NM_000484.4(APP):c.240G>T (p.Leu80=)
|
|
|
NM_000484.4(APP):c.24C>T (p.Leu8=)
|
|
|
NM_000484.4(APP):c.305G>A (p.Arg102His)
|
|
|
NM_000484.4(APP):c.309G>A (p.Lys103=)
|
|
|
NM_000484.4(APP):c.312G>A (p.Gln104=)
|
|
|
NM_000484.4(APP):c.347G>A (p.Arg116His)
|
rs2061787725
|
|
NM_000484.4(APP):c.355+11C>T
|
|
|
NM_000484.4(APP):c.355+12G>A
|
|
|
NM_000484.4(APP):c.355+16G>C
|
|
|
NM_000484.4(APP):c.355+6C>T
|
rs1555873548
|
|
NM_000484.4(APP):c.355+8G>A
|
|
|
NM_000484.4(APP):c.419G>C (p.Arg140Thr)
|
|
|
NM_000484.4(APP):c.432C>T (p.Cys144=)
|
|
|
NM_000484.4(APP):c.433G>A (p.Glu145Lys)
|
|
|
NM_000484.4(APP):c.446A>G (p.His149Arg)
|
|
|
NM_000484.4(APP):c.456C>T (p.Thr152=)
|
|
|
NM_000484.4(APP):c.459C>T (p.Val153=)
|
|
|
NM_000484.4(APP):c.462C>G (p.Ala154=)
|
rs200398369
|
|
NM_000484.4(APP):c.462C>T (p.Ala154=)
|
|
|
NM_000484.4(APP):c.468+16T>C
|
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NM_000484.4(APP):c.469-5T>C
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NM_000484.4(APP):c.496C>T (p.His166Tyr)
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NM_000484.4(APP):c.510G>A (p.Met170Ile)
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NM_000484.4(APP):c.534G>T (p.Lys178Asn)
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NM_000484.4(APP):c.563C>T (p.Pro188Leu)
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NM_000484.4(APP):c.565C>A (p.Leu189Met)
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NM_000484.4(APP):c.565C>T (p.Leu189=)
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NM_000484.4(APP):c.57+14C>T
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NM_000484.4(APP):c.57+15T>C
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NM_000484.4(APP):c.58-3C>T
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NM_000484.4(APP):c.581A>G (p.Asp194Gly)
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NM_000484.4(APP):c.583A>G (p.Asn195Asp)
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rs2146905389
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NM_000484.4(APP):c.584A>G (p.Asn195Ser)
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NM_000484.4(APP):c.621T>C (p.Asp207=)
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NM_000484.4(APP):c.634G>A (p.Gly212Arg)
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NM_000484.4(APP):c.63C>A (p.Pro21=)
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NM_000484.4(APP):c.663-10G>A
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NM_000484.4(APP):c.713AAG[3] (p.Glu241del)
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rs754150568
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NM_000484.4(APP):c.713AAG[5] (p.Glu241_Ala242insGlu)
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NM_000484.4(APP):c.732T>A (p.Asp244Glu)
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rs2146780434
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NM_000484.4(APP):c.735_746del (p.Asp245_Asp248del)
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rs1398952170
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NM_000484.4(APP):c.781C>T (p.Pro261Ser)
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NM_000484.4(APP):c.803G>A (p.Arg268Lys)
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rs1601237753
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NM_000484.4(APP):c.809C>T (p.Thr270Ile)
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NM_000484.4(APP):c.819CAC[5] (p.Thr279_Thr280del)
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rs527890624
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NM_000484.4(APP):c.819CAC[8] (p.Thr280dup)
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rs527890624
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NM_000484.4(APP):c.819CAC[9] (p.Thr279_Thr280dup)
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rs527890624
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NM_000484.4(APP):c.825C>T (p.Thr275=)
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NM_000484.4(APP):c.828C>A (p.Thr276=)
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NM_000484.4(APP):c.843G>A (p.Glu281=)
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NM_000484.4(APP):c.865+11A>G
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NM_000484.4(APP):c.865+3A>G
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rs2146779425
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NM_000484.4(APP):c.866-16C>A
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NM_000484.4(APP):c.866-3T>C
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rs2043232394
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NM_000484.4(APP):c.879A>G (p.Glu293=)
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NM_000484.4(APP):c.891G>A (p.Thr297=)
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rs773857944
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NM_000484.4(APP):c.901C>G (p.Arg301Gly)
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NM_000484.4(APP):c.963C>T (p.Tyr321=)
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NM_000484.4(APP):c.976G>A (p.Gly326Ser)
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