ClinVar Miner

List of variants studied for Alzheimer disease by Invitae

Included ClinVar conditions (25):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 638
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
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)
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)
NM_000447.3(PSEN2):c.1005A>G (p.Ser335=)
NM_000447.3(PSEN2):c.1005A>T (p.Ser335=)
NM_000447.3(PSEN2):c.1009C>T (p.Pro337Ser)
NM_000447.3(PSEN2):c.1023G>A (p.Glu341=)
NM_000447.3(PSEN2):c.1040_1041del (p.Tyr347fs)
NM_000447.3(PSEN2):c.1046G>A (p.Gly349Glu) rs2102690580
NM_000447.3(PSEN2):c.1073-10C>G
NM_000447.3(PSEN2):c.1073-10C>T rs201191318
NM_000447.3(PSEN2):c.1092C>T (p.Leu364=)
NM_000447.3(PSEN2):c.1139C>A (p.Thr380Lys) rs143912759
NM_000447.3(PSEN2):c.1139C>T (p.Thr380Met) rs143912759
NM_000447.3(PSEN2):c.1164G>C (p.Thr388=) rs369274454
NM_000447.3(PSEN2):c.1191+8G>C
NM_000447.3(PSEN2):c.1209C>G (p.Leu403=)
NM_000447.3(PSEN2):c.1236G>A (p.Ala412=)
NM_000447.3(PSEN2):c.1240C>T (p.Pro414Ser)
NM_000447.3(PSEN2):c.1242C>T (p.Pro414=)
NM_000447.3(PSEN2):c.1243G>A (p.Ala415Thr)
NM_000447.3(PSEN2):c.1257C>T (p.Ser419=) rs2102698755
NM_000447.3(PSEN2):c.1269G>T (p.Gly423=)
NM_000447.3(PSEN2):c.1303C>T (p.Arg435Trp)
NM_000447.3(PSEN2):c.1307C>T (p.Pro436Leu)
NM_000447.3(PSEN2):c.139T>G (p.Trp47Gly) rs2102668369
NM_000447.3(PSEN2):c.141+11C>G rs1249275874
NM_000447.3(PSEN2):c.142-16A>C
NM_000447.3(PSEN2):c.142-17G>A
NM_000447.3(PSEN2):c.165C>A (p.Asp55Glu)
NM_000447.3(PSEN2):c.194G>A (p.Cys65Tyr)
NM_000447.3(PSEN2):c.205C>G (p.Pro69Ala) rs202133351
NM_000447.3(PSEN2):c.216G>A (p.Pro72=)
NM_000447.3(PSEN2):c.241C>T (p.Leu81Phe) rs1405799988
NM_000447.3(PSEN2):c.255G>A (p.Ala85=)
NM_000447.3(PSEN2):c.260_261delinsTT (p.His87Leu)
NM_000447.3(PSEN2):c.260_261inv (p.His87Arg)
NM_000447.3(PSEN2):c.277G>A (p.Val93Met) rs2102672691
NM_000447.3(PSEN2):c.294C>T (p.Cys98=)
NM_000447.3(PSEN2):c.298A>G (p.Ile100Val) rs1182707759
NM_000447.3(PSEN2):c.305T>C (p.Val102Ala) rs1571951543
NM_000447.3(PSEN2):c.306G>A (p.Val102=)
NM_000447.3(PSEN2):c.328C>T (p.Arg110Cys)
NM_000447.3(PSEN2):c.348T>A (p.Asn116Lys)
NM_000447.3(PSEN2):c.348T>C (p.Asn116=)
NM_000447.3(PSEN2):c.349G>A (p.Gly117Arg)
NM_000447.3(PSEN2):c.356+11_356+13del
NM_000447.3(PSEN2):c.387C>T (p.Pro129=)
NM_000447.3(PSEN2):c.38T>C (p.Val13Ala) rs766853710
NM_000447.3(PSEN2):c.390G>A (p.Ser130=)
NM_000447.3(PSEN2):c.422A>T (p.Asn141Ile) rs63750215
NM_000447.3(PSEN2):c.427C>T (p.Leu143Phe)
NM_000447.3(PSEN2):c.436A>T (p.Ile146Phe)
NM_000447.3(PSEN2):c.499-15A>G
NM_000447.3(PSEN2):c.519C>T (p.Ile173=) rs2102682546
NM_000447.3(PSEN2):c.537G>A (p.Leu179=)
NM_000447.3(PSEN2):c.539T>C (p.Leu180Pro)
NM_000447.3(PSEN2):c.54G>A (p.Thr18=)
NM_000447.3(PSEN2):c.566G>C (p.Gly189Ala)
NM_000447.3(PSEN2):c.588T>C (p.Asn196=)
NM_000447.3(PSEN2):c.589G>A (p.Val197Met)
NM_000447.3(PSEN2):c.622G>A (p.Val208Ile)
NM_000447.3(PSEN2):c.633C>T (p.Phe211=)
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=)
NM_000447.3(PSEN2):c.788-14C>T
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)
NM_000447.3(PSEN2):c.877A>T (p.Ile293Leu)
NM_000447.3(PSEN2):c.880T>G (p.Tyr294Asp)
NM_000447.3(PSEN2):c.886+15C>T
NM_000447.3(PSEN2):c.886+2_886+4del rs1553268799
NM_000447.3(PSEN2):c.887-4C>G
NM_000447.3(PSEN2):c.893T>C (p.Met298Thr)
NM_000447.3(PSEN2):c.970+3_970+6del rs775692311
NM_000447.3(PSEN2):c.971-18C>T
NM_000447.3(PSEN2):c.971-9G>C rs2102690274
NM_000484.4(APP):c.1000G>C (p.Glu334Gln)
NM_000484.4(APP):c.1018G>T (p.Val340Leu)
NM_000484.4(APP):c.1021_1033+438del
NM_000484.4(APP):c.102T>C (p.Ile34=)
NM_000484.4(APP):c.1034-4A>G
NM_000484.4(APP):c.1035G>T (p.Met345Ile)
NM_000484.4(APP):c.1037C>A (p.Ser346Tyr) rs1260561215
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
NM_000484.4(APP):c.1078_1087delinsC (p.Asp360_Lys363delinsGln) rs1601155187
NM_000484.4(APP):c.1090+5G>A
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=)
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
NM_000484.4(APP):c.469-5T>C
NM_000484.4(APP):c.496C>T (p.His166Tyr)
NM_000484.4(APP):c.510G>A (p.Met170Ile)
NM_000484.4(APP):c.534G>T (p.Lys178Asn)
NM_000484.4(APP):c.563C>T (p.Pro188Leu)
NM_000484.4(APP):c.565C>A (p.Leu189Met)
NM_000484.4(APP):c.565C>T (p.Leu189=)
NM_000484.4(APP):c.57+14C>T
NM_000484.4(APP):c.57+15T>C
NM_000484.4(APP):c.58-3C>T
NM_000484.4(APP):c.581A>G (p.Asp194Gly)
NM_000484.4(APP):c.583A>G (p.Asn195Asp) rs2146905389
NM_000484.4(APP):c.584A>G (p.Asn195Ser)
NM_000484.4(APP):c.621T>C (p.Asp207=)
NM_000484.4(APP):c.634G>A (p.Gly212Arg)
NM_000484.4(APP):c.63C>A (p.Pro21=)
NM_000484.4(APP):c.663-10G>A
NM_000484.4(APP):c.713AAG[3] (p.Glu241del) rs754150568
NM_000484.4(APP):c.713AAG[5] (p.Glu241_Ala242insGlu)
NM_000484.4(APP):c.732T>A (p.Asp244Glu) rs2146780434
NM_000484.4(APP):c.735_746del (p.Asp245_Asp248del) rs1398952170
NM_000484.4(APP):c.781C>T (p.Pro261Ser)
NM_000484.4(APP):c.803G>A (p.Arg268Lys) rs1601237753
NM_000484.4(APP):c.809C>T (p.Thr270Ile)
NM_000484.4(APP):c.819CAC[5] (p.Thr279_Thr280del) rs527890624
NM_000484.4(APP):c.819CAC[8] (p.Thr280dup) rs527890624
NM_000484.4(APP):c.819CAC[9] (p.Thr279_Thr280dup) rs527890624
NM_000484.4(APP):c.825C>T (p.Thr275=)
NM_000484.4(APP):c.828C>A (p.Thr276=)
NM_000484.4(APP):c.843G>A (p.Glu281=)
NM_000484.4(APP):c.865+11A>G
NM_000484.4(APP):c.865+3A>G rs2146779425
NM_000484.4(APP):c.866-16C>A
NM_000484.4(APP):c.866-3T>C rs2043232394
NM_000484.4(APP):c.879A>G (p.Glu293=)
NM_000484.4(APP):c.891G>A (p.Thr297=) rs773857944
NM_000484.4(APP):c.901C>G (p.Arg301Gly)
NM_000484.4(APP):c.963C>T (p.Tyr321=)
NM_000484.4(APP):c.976G>A (p.Gly326Ser)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.