NM_000021.4(PSEN1):c.617G>C (p.Gly206Ala)
|
rs63750082
|
0.00012
|
NM_001377265.1(MAPT):c.2263G>A (p.Val755Ile)
|
rs63750869
|
0.00006
|
NM_000021.4(PSEN1):c.236C>T (p.Ala79Val)
|
rs63749824
|
0.00004
|
NM_001377265.1(MAPT):c.2392C>T (p.Arg798Trp)
|
rs63750424
|
0.00002
|
NM_000021.4(PSEN1):c.806G>A (p.Arg269His)
|
rs63750900
|
0.00001
|
NM_001377265.1(MAPT):c.2341G>A (p.Gly781Arg)
|
rs63750512
|
0.00001
|
NM_002087.4(GRN):c.1010_1011del (p.Gln337fs)
|
rs1598364961
|
0.00001
|
NM_002087.4(GRN):c.1145del (p.Thr382fs)
|
rs63750805
|
0.00001
|
NM_002087.4(GRN):c.1477C>T (p.Arg493Ter)
|
rs63751294
|
0.00001
|
NM_002087.4(GRN):c.2T>C (p.Met1Thr)
|
rs63751006
|
0.00001
|
NM_002087.4(GRN):c.708+1G>A
|
rs63749817
|
0.00001
|
NC_000014.8:g.(?_73673074)_(73673200_?)del
|
|
|
NC_000017.10:g.(?_42426434)_(42430018_?)del
|
|
|
NM_000021.4(PSEN1):c.1129A>T (p.Arg377Trp)
|
rs1555357544
|
|
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.1229G>A (p.Cys410Tyr)
|
rs661
|
|
NM_000021.4(PSEN1):c.1254G>C (p.Leu418Phe)
|
rs63751316
|
|
NM_000021.4(PSEN1):c.1292C>A (p.Ala431Glu)
|
rs63750083
|
|
NM_000021.4(PSEN1):c.250A>G (p.Met84Val)
|
|
|
NM_000021.4(PSEN1):c.274T>A (p.Cys92Ser)
|
|
|
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.404A>G (p.Asn135Ser)
|
rs63751278
|
|
NM_000021.4(PSEN1):c.415A>G (p.Met139Val)
|
rs63751037
|
|
NM_000021.4(PSEN1):c.428T>C (p.Ile143Thr)
|
rs63750004
|
|
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.476A>T (p.Tyr159Phe)
|
|
|
NM_000021.4(PSEN1):c.488A>G (p.His163Arg)
|
rs63750590
|
|
NM_000021.4(PSEN1):c.506C>T (p.Ser169Leu)
|
rs63751210
|
|
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.552A>C (p.Glu184Asp)
|
rs63750311
|
|
NM_000021.4(PSEN1):c.617G>A (p.Gly206Asp)
|
rs63750082
|
|
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.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.750G>T (p.Leu250Phe)
|
rs1898781850
|
|
NM_000021.4(PSEN1):c.766T>A (p.Tyr256Asn)
|
|
|
NM_000021.4(PSEN1):c.779C>T (p.Ala260Val)
|
rs63751420
|
|
NM_000021.4(PSEN1):c.791C>T (p.Pro264Leu)
|
rs63750301
|
|
NM_000021.4(PSEN1):c.811C>G (p.Leu271Val)
|
rs63750886
|
|
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.845T>C (p.Leu282Pro)
|
|
|
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_001377265.1(MAPT):c.1972C>G (p.Leu658Val)
|
rs63750349
|
|
NM_001377265.1(MAPT):c.1999-10G>T
|
rs63749974
|
|
NM_001377265.1(MAPT):c.2013T>G (p.Asn671Lys)
|
rs63750756
|
|
NM_001377265.1(MAPT):c.2078C>T (p.Pro693Leu)
|
rs63751273
|
|
NM_001377265.1(MAPT):c.2091+16C>T
|
rs63751011
|
|
NM_001377265.1(MAPT):c.2185G>A (p.Val729Met)
|
rs63750570
|
|
NM_002087.3(GRN):c.1144dup (p.Thr382Asnfs)
|
rs63749905
|
|
NM_002087.4(GRN):c.102del (p.Gly35fs)
|
rs63751073
|
|
NM_002087.4(GRN):c.1072C>T (p.Gln358Ter)
|
rs1555611293
|
|
NM_002087.4(GRN):c.1153del (p.Glu385fs)
|
rs2143342203
|
|
NM_002087.4(GRN):c.1158G>A (p.Trp386Ter)
|
|
|
NM_002087.4(GRN):c.1179+3A>G
|
|
|
NM_002087.4(GRN):c.118_121dup (p.Cys41Ter)
|
|
|
NM_002087.4(GRN):c.1216C>T (p.Gln406Ter)
|
rs2143344360
|
|
NM_002087.4(GRN):c.1227del (p.Cys410fs)
|
|
|
NM_002087.4(GRN):c.1252C>T (p.Arg418Ter)
|
rs63751180
|
|
NM_002087.4(GRN):c.128_129insCC (p.Pro44fs)
|
|
|
NM_002087.4(GRN):c.1317_1318del (p.Asp441fs)
|
|
|
NM_002087.4(GRN):c.138+1G>A
|
rs63749844
|
|
NM_002087.4(GRN):c.1414-2A>G
|
rs1555611412
|
|
NM_002087.4(GRN):c.1492_1495del (p.Glu498fs)
|
|
|
NM_002087.4(GRN):c.180dup (p.Cys61fs)
|
|
|
NM_002087.4(GRN):c.1A>G (p.Met1Val)
|
rs746037872
|
|
NM_002087.4(GRN):c.234_235del (p.Gly79fs)
|
rs63750373
|
|
NM_002087.4(GRN):c.264+1del
|
|
|
NM_002087.4(GRN):c.265-2del
|
|
|
NM_002087.4(GRN):c.26C>A (p.Ala9Asp)
|
rs63751243
|
|
NM_002087.4(GRN):c.295_308del (p.Cys99fs)
|
|
|
NM_002087.4(GRN):c.299del (p.Pro100fs)
|
rs2048353899
|
|
NM_002087.4(GRN):c.328C>T (p.Arg110Ter)
|
rs63750411
|
|
NM_002087.4(GRN):c.349+1G>C
|
rs1598363083
|
|
NM_002087.4(GRN):c.383_386del (p.Asp128fs)
|
rs2048359069
|
|
NM_002087.4(GRN):c.388C>T (p.Gln130Ter)
|
|
|
NM_002087.4(GRN):c.388_391del (p.Gln130fs)
|
rs63749801
|
|
NM_002087.4(GRN):c.39dup (p.Leu14fs)
|
rs2143325096
|
|
NM_002087.4(GRN):c.468_474del (p.Cys157fs)
|
rs63750247
|
|
NM_002087.4(GRN):c.472_496dup (p.Pro166delinsLeuTer)
|
|
|
NM_002087.4(GRN):c.592_593del (p.Arg198fs)
|
rs1555611136
|
|
NM_002087.4(GRN):c.5G>A (p.Trp2Ter)
|
|
|
NM_002087.4(GRN):c.614C>A (p.Ser205Ter)
|
rs777211749
|
|
NM_002087.4(GRN):c.675_676del (p.Ser226fs)
|
rs63751085
|
|
NM_002087.4(GRN):c.708+1G>C
|
rs63749817
|
|
NM_002087.4(GRN):c.708+6_708+9del
|
rs778599933
|
|
NM_002087.4(GRN):c.709-2A>G
|
rs63750548
|
|
NM_002087.4(GRN):c.711del (p.Thr238fs)
|
|
|
NM_002087.4(GRN):c.768_769dup (p.Gln257fs)
|
rs1567887004
|
|
NM_002087.4(GRN):c.775_778del (p.Lys259fs)
|
rs2143337849
|
|
NM_002087.4(GRN):c.784_787del (p.Ser262fs)
|
|
|
NM_002087.4(GRN):c.80dup (p.Val28fs)
|
rs1392550887
|
|
NM_002087.4(GRN):c.813_816del (p.Thr272fs)
|
rs63749877
|
|
NM_002087.4(GRN):c.836-1G>C
|
rs63751296
|
|
NM_002087.4(GRN):c.87dup (p.Cys30fs)
|
rs794729672
|
|
NM_002087.4(GRN):c.898C>T (p.Gln300Ter)
|
rs1555611253
|
|
NM_002087.4(GRN):c.910_911dup (p.Trp304fs)
|
|
|
NM_002087.4(GRN):c.911G>A (p.Trp304Ter)
|
rs63751177
|
|
NM_002087.4(GRN):c.991C>T (p.Gln331Ter)
|
rs1567887496
|
|