NM_018136.5(ASPM):c.7480T>C (p.Tyr2494His)
|
rs964201
|
0.99668
|
NM_018136.5(ASPM):c.3390+142T>A
|
rs6685259
|
0.88797
|
NM_018136.5(ASPM):c.2760+174C>G
|
rs6695300
|
0.85987
|
NM_018136.5(ASPM):c.7566A>G (p.Leu2522=)
|
rs1412640
|
0.80210
|
NM_018136.5(ASPM):c.*81C>T
|
rs12677
|
0.77214
|
NM_018136.5(ASPM):c.10331+8A>G
|
rs10754213
|
0.77181
|
NM_018136.5(ASPM):c.1922-41G>A
|
rs1332663
|
0.77179
|
NM_018136.5(ASPM):c.2173+251C>T
|
rs877897
|
0.77165
|
NM_018136.5(ASPM):c.3579T>A (p.Ser1193=)
|
rs4915337
|
0.77164
|
NM_018136.5(ASPM):c.10331+151A>G
|
rs10733087
|
0.77158
|
NM_018136.5(ASPM):c.8987+230_8987+231insTAC
|
rs3077762
|
0.77121
|
NM_018136.5(ASPM):c.9636+102C>T
|
rs4915315
|
0.75691
|
NM_018136.5(ASPM):c.4065+250G>A
|
rs10754215
|
0.75660
|
NM_018136.5(ASPM):c.441+14C>T
|
rs1571964
|
0.74895
|
NM_018136.5(ASPM):c.849C>T (p.Ser283=)
|
rs6677082
|
0.74886
|
NM_018136.5(ASPM):c.9636+88T>C
|
rs10754214
|
0.74885
|
NM_018136.5(ASPM):c.2488-299T>C
|
rs7541429
|
0.74867
|
NM_018136.5(ASPM):c.2026+204G>A
|
rs10737687
|
0.74866
|
NM_018136.5(ASPM):c.9636+52T>C
|
rs4915316
|
0.74861
|
NM_018136.5(ASPM):c.8987+302T>C
|
rs1953064
|
0.74860
|
NM_018136.5(ASPM):c.2420-139A>G
|
rs3737111
|
0.44428
|
NM_018136.5(ASPM):c.7939C>A (p.Leu2647Ile)
|
rs3762271
|
0.30411
|
NM_018136.5(ASPM):c.8988-42G>A
|
rs41304071
|
0.30406
|
NM_018136.5(ASPM):c.4449A>G (p.Lys1483=)
|
rs2878749
|
0.30404
|
NM_018136.5(ASPM):c.2174-201G>A
|
rs41310911
|
0.30395
|
NM_018136.5(ASPM):c.7684A>G (p.Ser2562Gly)
|
rs41310927
|
0.30288
|
NM_018136.5(ASPM):c.2487+112G>T
|
rs3737110
|
0.30234
|
NM_018136.5(ASPM):c.3391-83A>G
|
rs61819088
|
0.30223
|
NM_018136.5(ASPM):c.5961A>G (p.Gln1987=)
|
rs41310925
|
0.30222
|
NM_018136.5(ASPM):c.9444+254T>A
|
rs955927
|
0.29790
|
NM_018136.5(ASPM):c.3138G>A (p.Arg1046=)
|
rs6676084
|
0.25582
|
NM_018136.5(ASPM):c.2174-20T>C
|
rs4915344
|
0.16253
|
NC_000001.11:g.197084011T>C
|
rs1332660
|
0.16239
|
NM_018136.5(ASPM):c.7605G>A (p.Val2535=)
|
rs10922162
|
0.16179
|
NM_018136.5(ASPM):c.9636+116G>A
|
rs72736482
|
0.07792
|
NM_018136.5(ASPM):c.7860G>C (p.Gln2620His)
|
rs12138336
|
0.04915
|
NM_018136.5(ASPM):c.3269C>T (p.Ser1090Phe)
|
rs16841081
|
0.04499
|
NM_018136.5(ASPM):c.1977T>C (p.Ile659=)
|
rs17550662
|
0.04184
|
NM_018136.5(ASPM):c.2419+204C>T
|
rs79246047
|
0.02799
|
NM_018136.5(ASPM):c.5083C>T (p.Arg1695Cys)
|
rs80238010
|
0.02796
|
NM_018136.5(ASPM):c.2173+120A>G
|
rs114887287
|
0.02280
|
NM_018136.5(ASPM):c.*60C>T
|
rs1537318
|
0.02044
|
NM_018136.5(ASPM):c.-110C>T
|
rs74981632
|
0.02032
|
NM_018136.5(ASPM):c.3391-14G>T
|
rs80058948
|
0.02003
|
NM_018136.5(ASPM):c.10161+144A>T
|
rs75268113
|
0.02000
|
NM_018136.5(ASPM):c.2419+12G>A
|
rs77191836
|
0.01806
|
NM_018136.5(ASPM):c.5579C>T (p.Ala1860Val)
|
rs77138363
|
0.01515
|
NC_000001.11:g.197083990C>T
|
rs75841031
|
0.01514
|
NM_018136.5(ASPM):c.5821T>C (p.Cys1941Arg)
|
rs61249253
|
0.01514
|
NM_018136.5(ASPM):c.7787T>C (p.Val2596Ala)
|
rs79572771
|
0.01514
|
NM_018136.5(ASPM):c.5063C>T (p.Thr1688Ile)
|
rs62624968
|
0.01513
|
NM_018136.5(ASPM):c.2419+313A>G
|
rs115195513
|
0.01507
|
NM_018136.5(ASPM):c.3912C>A (p.Ile1304=)
|
rs56912014
|
0.01464
|
NM_018136.5(ASPM):c.2937-171T>C
|
rs114071210
|
0.01462
|
NM_018136.5(ASPM):c.3871-251A>G
|
rs60769813
|
0.01462
|
NM_018136.5(ASPM):c.2419+289C>T
|
rs115786119
|
0.01461
|
NM_018136.5(ASPM):c.2307A>G (p.Ala769=)
|
rs35897746
|
0.01457
|
NM_018136.5(ASPM):c.1288A>G (p.Arg430Gly)
|
rs6428388
|
0.01455
|
NM_018136.5(ASPM):c.2751C>T (p.Ala917=)
|
rs33987824
|
0.01382
|
NM_018136.5(ASPM):c.2805T>C (p.Ser935=)
|
rs113161395
|
0.01101
|
NM_018136.5(ASPM):c.7917A>G (p.Lys2639=)
|
rs112647911
|
0.00953
|
NM_018136.5(ASPM):c.7353G>A (p.Leu2451=)
|
rs111487086
|
0.00949
|
NM_018136.5(ASPM):c.2026+313C>T
|
rs111753423
|
0.00935
|
NM_018136.5(ASPM):c.8821-287_8821-286del
|
rs112683881
|
0.00929
|
NM_018136.5(ASPM):c.9445-249G>A
|
rs112214972
|
0.00929
|
NM_018136.5(ASPM):c.8820+7C>G
|
rs115045814
|
0.00865
|
NM_018136.5(ASPM):c.9084+131G>A
|
rs114361901
|
0.00850
|
NM_018136.5(ASPM):c.9637-38G>A
|
rs116608360
|
0.00848
|
NM_018136.5(ASPM):c.7023C>T (p.Ile2341=)
|
rs115891952
|
0.00843
|
NM_018136.5(ASPM):c.*158T>C
|
rs41265225
|
0.00824
|
NM_018136.5(ASPM):c.5185C>T (p.Arg1729Trp)
|
rs41299623
|
0.00808
|
NM_018136.5(ASPM):c.1921+300G>A
|
rs116832434
|
0.00788
|
NM_018136.5(ASPM):c.5206C>G (p.Gln1736Glu)
|
rs62623455
|
0.00788
|
NM_018136.5(ASPM):c.2488-131A>C
|
rs80157479
|
0.00787
|
NM_018136.5(ASPM):c.9444+111G>A
|
rs79431914
|
0.00787
|
NM_018136.5(ASPM):c.9636+68del
|
rs201186097
|
0.00785
|
NM_018136.5(ASPM):c.7565T>G (p.Leu2522Ter)
|
rs62624965
|
0.00780
|
NM_018136.5(ASPM):c.2218A>T (p.Ile740Leu)
|
rs35203521
|
0.00779
|
NM_018136.5(ASPM):c.644A>C (p.Glu215Ala)
|
rs114695225
|
0.00779
|
NM_018136.5(ASPM):c.9085-101T>A
|
rs145908430
|
0.00778
|
NM_018136.5(ASPM):c.9085-83A>G
|
rs116297575
|
0.00778
|
NM_018136.5(ASPM):c.1451A>G (p.Asn484Ser)
|
rs114737609
|
0.00775
|
NM_018136.5(ASPM):c.10162-7T>A
|
rs141402675
|
0.00774
|
NM_018136.5(ASPM):c.3390+162A>G
|
rs139855488
|
0.00774
|
NM_018136.5(ASPM):c.9773A>G (p.His3258Arg)
|
rs7528827
|
0.00754
|
NM_018136.5(ASPM):c.4065+73A>G
|
rs115716898
|
0.00752
|
NM_018136.5(ASPM):c.442-26T>C
|
rs76822237
|
0.00752
|
NM_018136.5(ASPM):c.3870+294G>A
|
rs78930407
|
0.00748
|
NM_018136.5(ASPM):c.3871-172G>A
|
rs115201296
|
0.00737
|
NM_018136.5(ASPM):c.5629G>A (p.Ala1877Thr)
|
rs112230218
|
0.00719
|
NM_018136.5(ASPM):c.3391-298A>G
|
rs138191108
|
0.00690
|
NM_018136.5(ASPM):c.1987G>T (p.Ala663Ser)
|
rs113611857
|
0.00689
|
NM_018136.5(ASPM):c.3742-10T>G
|
rs41299587
|
0.00665
|
NM_018136.5(ASPM):c.3741+3A>G
|
rs138558822
|
0.00656
|
NM_018136.5(ASPM):c.2487+294A>G
|
rs141225800
|
0.00648
|
NM_018136.5(ASPM):c.2173+269T>G
|
rs142033276
|
0.00646
|
NM_018136.5(ASPM):c.2488-99A>G
|
rs143729423
|
0.00644
|
NM_018136.5(ASPM):c.10162-73G>T
|
rs149864217
|
0.00639
|
NM_018136.5(ASPM):c.2630-61T>G
|
rs79301608
|
0.00637
|
NM_018136.5(ASPM):c.6727G>T (p.Val2243Leu)
|
rs148425392
|
0.00493
|
NM_018136.5(ASPM):c.2027-324T>C
|
rs112559696
|
0.00457
|
NM_018136.5(ASPM):c.9444+61A>G
|
rs146122230
|
0.00456
|
NM_018136.5(ASPM):c.5741A>G (p.Gln1914Arg)
|
rs113325473
|
0.00427
|
NM_018136.5(ASPM):c.442-58G>A
|
rs138530804
|
0.00403
|
NM_018136.5(ASPM):c.4213C>T (p.Arg1405Cys)
|
rs139367209
|
0.00396
|
NM_018136.5(ASPM):c.7554A>G (p.Arg2518=)
|
rs140248383
|
0.00393
|
NM_018136.5(ASPM):c.3791G>A (p.Arg1264His)
|
rs150125249
|
0.00378
|
NM_018136.5(ASPM):c.2629+29C>T
|
rs201856338
|
0.00368
|
NM_018136.5(ASPM):c.6775T>C (p.Leu2259=)
|
rs140922974
|
0.00333
|
NM_018136.5(ASPM):c.2760+138G>C
|
rs190968454
|
0.00306
|
NM_018136.5(ASPM):c.3870+25A>G
|
rs140776310
|
0.00290
|
NM_018136.5(ASPM):c.3599-4A>G
|
rs149303254
|
0.00284
|
NM_018136.5(ASPM):c.8821-47A>G
|
rs139830165
|
0.00280
|
NM_018136.5(ASPM):c.9444+8T>G
|
rs140150599
|
0.00278
|
NM_018136.5(ASPM):c.9996T>C (p.Thr3332=)
|
rs139927527
|
0.00253
|
NM_018136.5(ASPM):c.1717C>T (p.Arg573Trp)
|
rs144049904
|
0.00217
|
NM_018136.5(ASPM):c.8255T>G (p.Met2752Arg)
|
rs148328539
|
0.00207
|
NM_018136.5(ASPM):c.1922-14C>G
|
rs189193044
|
0.00203
|
NM_018136.5(ASPM):c.5940C>T (p.Tyr1980=)
|
rs150642468
|
0.00177
|
NM_018136.5(ASPM):c.1385A>G (p.Tyr462Cys)
|
rs143294539
|
0.00155
|
NM_018136.5(ASPM):c.9254T>C (p.Ile3085Thr)
|
rs138138436
|
0.00155
|
NM_018136.5(ASPM):c.4733G>A (p.Arg1578Gln)
|
rs143822761
|
0.00153
|
NM_018136.5(ASPM):c.9830-18G>T
|
rs200800781
|
0.00152
|
NM_018136.5(ASPM):c.5299G>C (p.Ala1767Pro)
|
rs142536561
|
0.00150
|
NM_018136.5(ASPM):c.646G>A (p.Glu216Lys)
|
rs151050191
|
0.00137
|
NM_018136.5(ASPM):c.1732G>A (p.Asp578Asn)
|
rs60950503
|
0.00119
|
NM_018136.5(ASPM):c.7620A>G (p.Ala2540=)
|
rs147160053
|
0.00118
|
NM_018136.5(ASPM):c.5947A>T (p.Met1983Leu)
|
rs141715950
|
0.00115
|
NM_018136.5(ASPM):c.4436A>G (p.Lys1479Arg)
|
rs115594989
|
0.00114
|
NM_018136.5(ASPM):c.6125A>G (p.Asp2042Gly)
|
rs150327858
|
0.00109
|
NM_018136.5(ASPM):c.-9G>T
|
rs141108591
|
0.00105
|
NM_018136.5(ASPM):c.9276T>C (p.Gly3092=)
|
rs151142538
|
0.00103
|
NM_018136.5(ASPM):c.5452C>T (p.Arg1818Cys)
|
rs41299625
|
0.00095
|
NM_018136.5(ASPM):c.7670C>G (p.Ser2557Cys)
|
rs78215018
|
0.00093
|
NM_018136.5(ASPM):c.2420-20G>A
|
rs191404122
|
0.00087
|
NM_018136.5(ASPM):c.9911G>A (p.Arg3304Gln)
|
rs149859034
|
0.00079
|
NM_018136.5(ASPM):c.3189A>G (p.Leu1063=)
|
rs146858888
|
0.00071
|
NM_018136.5(ASPM):c.1007C>A (p.Thr336Lys)
|
rs112113370
|
0.00066
|
NM_018136.5(ASPM):c.844A>C (p.Asn282His)
|
rs113777932
|
0.00066
|
NM_018136.5(ASPM):c.905G>A (p.Cys302Tyr)
|
rs77736715
|
0.00066
|
NM_018136.5(ASPM):c.2275C>T (p.Arg759Trp)
|
rs777867809
|
0.00064
|
NM_018136.5(ASPM):c.6717G>C (p.Leu2239=)
|
rs147100928
|
0.00061
|
NM_018136.5(ASPM):c.9492T>C (p.Tyr3164=)
|
rs143931757
|
0.00061
|
NM_018136.5(ASPM):c.8449G>T (p.Ala2817Ser)
|
rs117963393
|
0.00059
|
NM_018136.5(ASPM):c.9272G>A (p.Arg3091His)
|
rs147005963
|
0.00059
|
NM_018136.5(ASPM):c.9676T>G (p.Cys3226Gly)
|
rs142901223
|
0.00056
|
NM_018136.5(ASPM):c.4496G>T (p.Arg1499Leu)
|
rs140119882
|
0.00054
|
NM_018136.5(ASPM):c.8068C>T (p.Arg2690Trp)
|
rs41302133
|
0.00049
|
NM_018136.5(ASPM):c.8166T>C (p.Tyr2722=)
|
rs78315399
|
0.00046
|
NM_018136.5(ASPM):c.2263G>A (p.Ala755Thr)
|
rs150852085
|
0.00043
|
NM_018136.5(ASPM):c.7551T>C (p.Tyr2517=)
|
rs149228705
|
0.00041
|
NM_018136.5(ASPM):c.1740C>G (p.Ser580Arg)
|
rs147457270
|
0.00040
|
NM_018136.5(ASPM):c.6388C>T (p.His2130Tyr)
|
rs554124451
|
0.00040
|
NM_018136.5(ASPM):c.581C>A (p.Ala194Asp)
|
rs141532484
|
0.00038
|
NM_018136.5(ASPM):c.7475G>A (p.Arg2492Lys)
|
rs118010078
|
0.00037
|
NM_018136.5(ASPM):c.6702A>G (p.Gln2234=)
|
rs142587742
|
0.00036
|
NM_018136.5(ASPM):c.1467A>G (p.Arg489=)
|
rs146561469
|
0.00033
|
NM_018136.5(ASPM):c.9890C>A (p.Ser3297Tyr)
|
rs201033114
|
0.00033
|
NM_018136.5(ASPM):c.2267A>G (p.Tyr756Cys)
|
rs201066146
|
0.00031
|
NM_018136.5(ASPM):c.2968G>A (p.Asp990Asn)
|
rs142537154
|
0.00031
|
NM_018136.5(ASPM):c.3772G>A (p.Ala1258Thr)
|
rs142214506
|
0.00031
|
NM_018136.5(ASPM):c.1304C>T (p.Ser435Leu)
|
rs150684410
|
0.00030
|
NM_018136.5(ASPM):c.7157A>G (p.His2386Arg)
|
rs137890991
|
0.00030
|
NM_018136.5(ASPM):c.1141G>T (p.Asp381Tyr)
|
rs147055570
|
0.00029
|
NM_018136.5(ASPM):c.4897C>T (p.Arg1633Cys)
|
rs200202166
|
0.00029
|
NM_018136.5(ASPM):c.937A>G (p.Ile313Val)
|
rs12025066
|
0.00029
|
NM_018136.5(ASPM):c.9006A>G (p.Ala3002=)
|
rs143760252
|
0.00028
|
NM_018136.5(ASPM):c.3090A>G (p.Thr1030=)
|
rs144559326
|
0.00027
|
NM_018136.5(ASPM):c.8966A>G (p.Tyr2989Cys)
|
rs149690383
|
0.00027
|
NM_018136.5(ASPM):c.1867C>A (p.Pro623Thr)
|
rs145625555
|
0.00026
|
NM_018136.5(ASPM):c.2043G>A (p.Pro681=)
|
rs147526389
|
0.00026
|
NM_018136.5(ASPM):c.3229A>C (p.Lys1077Gln)
|
rs139317695
|
0.00026
|
NM_018136.5(ASPM):c.1921+13T>G
|
rs41304245
|
0.00025
|
NM_018136.5(ASPM):c.5818C>G (p.Gln1940Glu)
|
rs142378871
|
0.00023
|
NM_018136.5(ASPM):c.8929A>G (p.Ile2977Val)
|
rs148818072
|
0.00023
|
NM_018136.5(ASPM):c.523G>A (p.Val175Ile)
|
rs201934616
|
0.00021
|
NM_018136.5(ASPM):c.5833A>G (p.Ile1945Val)
|
rs147466865
|
0.00021
|
NM_018136.5(ASPM):c.7114A>G (p.Arg2372Gly)
|
rs190693455
|
0.00021
|
NM_018136.5(ASPM):c.8009T>C (p.Ile2670Thr)
|
rs41299627
|
0.00021
|
NM_018136.5(ASPM):c.8452G>T (p.Ala2818Ser)
|
rs188955444
|
0.00021
|
NM_018136.5(ASPM):c.8741T>C (p.Ile2914Thr)
|
rs200856894
|
0.00021
|
NM_018136.5(ASPM):c.8821-12T>C
|
rs370550019
|
0.00021
|
NM_018136.5(ASPM):c.676C>T (p.Pro226Ser)
|
rs147830520
|
0.00020
|
NM_018136.5(ASPM):c.7428G>T (p.Lys2476Asn)
|
rs200654820
|
0.00020
|
NM_018136.5(ASPM):c.8558G>A (p.Arg2853Gln)
|
rs148245202
|
0.00020
|
NM_018136.5(ASPM):c.1949C>G (p.Ser650Cys)
|
rs112997359
|
0.00019
|
NM_018136.5(ASPM):c.3311G>A (p.Gly1104Asp)
|
rs146959075
|
0.00019
|
NM_018136.5(ASPM):c.5224T>C (p.Tyr1742His)
|
rs143733126
|
0.00019
|
NM_018136.5(ASPM):c.5700T>G (p.Ala1900=)
|
rs146673233
|
0.00019
|
NM_018136.5(ASPM):c.4933G>A (p.Gly1645Arg)
|
rs201927596
|
0.00018
|
NM_018136.5(ASPM):c.8228G>A (p.Arg2743Gln)
|
rs202193200
|
0.00018
|
NM_018136.5(ASPM):c.8277A>G (p.Lys2759=)
|
rs148555951
|
0.00018
|
NM_018136.5(ASPM):c.10416G>A (p.Thr3472=)
|
rs150108952
|
0.00016
|
NM_018136.5(ASPM):c.1980C>T (p.Ile660=)
|
rs151087446
|
0.00016
|
NM_018136.5(ASPM):c.4214G>A (p.Arg1405His)
|
rs143092798
|
0.00016
|
NM_018136.5(ASPM):c.4402G>A (p.Ala1468Thr)
|
rs189918817
|
0.00016
|
NM_018136.5(ASPM):c.5061A>G (p.Ser1687=)
|
rs587783246
|
0.00016
|
NM_018136.5(ASPM):c.7179T>A (p.Ala2393=)
|
rs117668001
|
0.00016
|
NM_018136.5(ASPM):c.8187A>G (p.Lys2729=)
|
rs779442940
|
0.00016
|
NM_018136.5(ASPM):c.81C>A (p.Pro27=)
|
rs369801034
|
0.00016
|
NM_018136.5(ASPM):c.2761-11T>C
|
rs368239890
|
0.00015
|
NM_018136.5(ASPM):c.9178C>T (p.Gln3060Ter)
|
rs137852994
|
0.00015
|
NM_018136.5(ASPM):c.1469G>A (p.Arg490His)
|
rs545470771
|
0.00014
|
NM_018136.5(ASPM):c.4975G>T (p.Val1659Phe)
|
rs560847421
|
0.00014
|
NM_018136.5(ASPM):c.5584A>G (p.Lys1862Glu)
|
rs527602809
|
0.00014
|
NM_018136.5(ASPM):c.7569A>G (p.Gln2523=)
|
rs148494695
|
0.00014
|
NM_018136.5(ASPM):c.9294+2T>C
|
rs199503603
|
0.00014
|
NM_018136.5(ASPM):c.9833T>C (p.Val3278Ala)
|
rs141348662
|
0.00014
|
NM_018136.5(ASPM):c.3960C>T (p.Leu1320=)
|
rs148964635
|
0.00013
|
NM_018136.5(ASPM):c.7300A>G (p.Thr2434Ala)
|
rs768997704
|
0.00013
|
NM_018136.5(ASPM):c.8645A>G (p.Tyr2882Cys)
|
rs145308167
|
0.00013
|
NM_018136.5(ASPM):c.4066-32T>C
|
rs143351980
|
0.00012
|
NM_018136.5(ASPM):c.8821-11G>A
|
rs575748460
|
0.00012
|
NM_018136.5(ASPM):c.10096G>A (p.Gly3366Arg)
|
rs201679731
|
0.00011
|
NM_018136.5(ASPM):c.1185A>G (p.Gln395=)
|
rs183395856
|
0.00011
|
NM_018136.5(ASPM):c.2276G>A (p.Arg759Gln)
|
rs375901171
|
0.00011
|
NM_018136.5(ASPM):c.2365A>G (p.Ile789Val)
|
rs755203240
|
0.00011
|
NM_018136.5(ASPM):c.4053A>C (p.Ala1351=)
|
rs147209201
|
0.00011
|
NM_018136.5(ASPM):c.502A>C (p.Arg168=)
|
rs147527791
|
0.00011
|
NM_018136.5(ASPM):c.5510G>A (p.Gly1837Asp)
|
rs144969324
|
0.00011
|
NM_018136.5(ASPM):c.5846A>G (p.His1949Arg)
|
rs186663906
|
0.00011
|
NM_018136.5(ASPM):c.8524C>T (p.Arg2842Trp)
|
rs112946633
|
0.00011
|
NM_018136.5(ASPM):c.9085-3T>C
|
rs201188381
|
0.00011
|
NM_018136.5(ASPM):c.933C>G (p.Ser311Arg)
|
rs563858170
|
0.00011
|
NM_018136.5(ASPM):c.2004C>T (p.Thr668=)
|
rs377625262
|
0.00010
|
NM_018136.5(ASPM):c.3083-11T>C
|
rs372375601
|
0.00010
|
NM_018136.5(ASPM):c.3156G>A (p.Ala1052=)
|
rs143680877
|
0.00010
|
NM_018136.5(ASPM):c.4135T>C (p.Ser1379Pro)
|
rs768625023
|
0.00010
|
NM_018136.5(ASPM):c.4985T>G (p.Ile1662Ser)
|
rs147839989
|
0.00010
|
NM_018136.5(ASPM):c.9246T>C (p.Ser3082=)
|
rs201050851
|
0.00010
|
NM_018136.5(ASPM):c.9287G>A (p.Arg3096Gln)
|
rs146444278
|
0.00010
|
NM_018136.5(ASPM):c.9577C>T (p.Arg3193Cys)
|
rs140679756
|
0.00010
|
NM_018136.5(ASPM):c.2174-12G>C
|
rs757488628
|
0.00009
|
NM_018136.5(ASPM):c.2994G>A (p.Pro998=)
|
rs554545885
|
0.00009
|
NM_018136.5(ASPM):c.4796G>A (p.Arg1599Gln)
|
rs62623433
|
0.00009
|
NM_018136.5(ASPM):c.5333T>C (p.Ile1778Thr)
|
rs777352982
|
0.00009
|
NM_018136.5(ASPM):c.5895A>G (p.Arg1965=)
|
rs567095370
|
0.00009
|
NM_018136.5(ASPM):c.6275A>T (p.Asn2092Ile)
|
rs144574871
|
0.00009
|
NM_018136.5(ASPM):c.712C>T (p.Pro238Ser)
|
rs148338547
|
0.00009
|
NM_018136.5(ASPM):c.719C>G (p.Ser240Cys)
|
rs140646088
|
0.00009
|
NM_018136.5(ASPM):c.9439A>G (p.Ile3147Val)
|
rs150906798
|
0.00009
|
NM_018136.5(ASPM):c.9539A>C (p.Gln3180Pro)
|
rs193251130
|
0.00009
|
NM_018136.5(ASPM):c.9641T>C (p.Leu3214Ser)
|
rs368682161
|
0.00009
|
NM_018136.5(ASPM):c.1283A>T (p.Asp428Val)
|
rs767859450
|
0.00008
|
NM_018136.5(ASPM):c.6131A>G (p.Asn2044Ser)
|
rs145645602
|
0.00008
|
NM_018136.5(ASPM):c.6851C>T (p.Ser2284Phe)
|
rs371321801
|
0.00008
|
NM_018136.5(ASPM):c.7106A>C (p.Gln2369Pro)
|
rs372076208
|
0.00008
|
NM_018136.5(ASPM):c.8224G>A (p.Val2742Ile)
|
rs562043376
|
0.00008
|
NM_018136.5(ASPM):c.9830-7C>T
|
rs1236570791
|
0.00008
|
NM_018136.5(ASPM):c.2328A>T (p.Glu776Asp)
|
rs184969664
|
0.00007
|
NM_018136.5(ASPM):c.2419+6A>T
|
rs202002135
|
0.00007
|
NM_018136.5(ASPM):c.6551G>A (p.Arg2184Gln)
|
rs200848981
|
0.00007
|
NM_018136.5(ASPM):c.9052A>G (p.Lys3018Glu)
|
rs753961004
|
0.00007
|
NM_018136.5(ASPM):c.9931C>G (p.Pro3311Ala)
|
rs542967760
|
0.00007
|
NM_018136.5(ASPM):c.10168C>T (p.Arg3390Ter)
|
rs587783211
|
0.00006
|
NM_018136.5(ASPM):c.10222C>T (p.His3408Tyr)
|
rs761768584
|
0.00006
|
NM_018136.5(ASPM):c.10261C>A (p.Gln3421Lys)
|
rs201191528
|
0.00006
|
NM_018136.5(ASPM):c.10330A>C (p.Arg3444=)
|
rs140231146
|
0.00006
|
NM_018136.5(ASPM):c.1184A>G (p.Gln395Arg)
|
rs147820821
|
0.00006
|
NM_018136.5(ASPM):c.1388G>A (p.Ser463Asn)
|
rs587783218
|
0.00006
|
NM_018136.5(ASPM):c.1429G>T (p.Asp477Tyr)
|
rs149162314
|
0.00006
|
NM_018136.5(ASPM):c.2641G>A (p.Ala881Thr)
|
rs142743598
|
0.00006
|
NM_018136.5(ASPM):c.2914T>G (p.Leu972Val)
|
rs552158003
|
0.00006
|
NM_018136.5(ASPM):c.3955G>T (p.Ala1319Ser)
|
rs376541100
|
0.00006
|
NM_018136.5(ASPM):c.4216G>A (p.Ala1406Thr)
|
rs145662604
|
0.00006
|
NM_018136.5(ASPM):c.4309C>T (p.Arg1437Cys)
|
rs371861473
|
0.00006
|
NM_018136.5(ASPM):c.4443A>G (p.Leu1481=)
|
rs374040448
|
0.00006
|
NM_018136.5(ASPM):c.4914G>A (p.Val1638=)
|
rs759159863
|
0.00006
|
NM_018136.5(ASPM):c.5471A>G (p.Gln1824Arg)
|
rs62623448
|
0.00006
|
NM_018136.5(ASPM):c.5984_5986del (p.Lys1995_Ala1996delinsThr)
|
rs886043659
|
0.00006
|
NM_018136.5(ASPM):c.5990C>T (p.Ala1997Val)
|
rs767318099
|
0.00006
|
NM_018136.5(ASPM):c.6606A>T (p.Arg2202Ser)
|
rs373173968
|
0.00006
|
NM_018136.5(ASPM):c.6796G>A (p.Ala2266Thr)
|
rs200800956
|
0.00006
|
NM_018136.5(ASPM):c.8557C>T (p.Arg2853Trp)
|
rs150424130
|
0.00006
|
NM_018136.5(ASPM):c.8780G>A (p.Arg2927Gln)
|
rs773437954
|
0.00006
|
NM_018136.5(ASPM):c.9223A>C (p.Lys3075Gln)
|
rs747515767
|
0.00006
|
NM_018136.5(ASPM):c.9471A>G (p.Glu3157=)
|
rs764291332
|
0.00006
|
NM_018136.5(ASPM):c.1579G>C (p.Glu527Gln)
|
rs376058344
|
0.00005
|
NM_018136.5(ASPM):c.1788G>A (p.Val596=)
|
rs181045749
|
0.00005
|
NM_018136.5(ASPM):c.19G>C (p.Gly7Arg)
|
rs776662758
|
0.00005
|
NM_018136.5(ASPM):c.2532C>T (p.Val844=)
|
rs141716537
|
0.00005
|
NM_018136.5(ASPM):c.3420C>T (p.Asp1140=)
|
rs186076559
|
0.00005
|
NM_018136.5(ASPM):c.3804A>G (p.Arg1268=)
|
rs142766262
|
0.00005
|
NM_018136.5(ASPM):c.3886G>C (p.Ala1296Pro)
|
rs373469406
|
0.00005
|
NM_018136.5(ASPM):c.4485G>C (p.Gln1495His)
|
rs778617096
|
0.00005
|
NM_018136.5(ASPM):c.5843G>A (p.Arg1948His)
|
rs373196055
|
0.00005
|
NM_018136.5(ASPM):c.656T>C (p.Ile219Thr)
|
rs771860582
|
0.00005
|
NM_018136.5(ASPM):c.6919C>A (p.Gln2307Lys)
|
rs142865061
|
0.00005
|
NM_018136.5(ASPM):c.7002G>T (p.Met2334Ile)
|
rs764918001
|
0.00005
|
NM_018136.5(ASPM):c.7635A>G (p.Lys2545=)
|
rs753881432
|
0.00005
|
NM_018136.5(ASPM):c.8045G>A (p.Arg2682Gln)
|
rs777169562
|
0.00005
|
NM_018136.5(ASPM):c.8525G>A (p.Arg2842Gln)
|
rs373023853
|
0.00005
|
NM_018136.5(ASPM):c.9657T>G (p.Ser3219=)
|
rs756879923
|
0.00005
|
NM_018136.5(ASPM):c.10006G>A (p.Val3336Ile)
|
rs951343801
|
0.00004
|
NM_018136.5(ASPM):c.10279A>G (p.Ile3427Val)
|
rs886045758
|
0.00004
|
NM_018136.5(ASPM):c.10331+5G>A
|
rs368843607
|
0.00004
|
NM_018136.5(ASPM):c.1474A>G (p.Ile492Val)
|
rs149075351
|
0.00004
|
NM_018136.5(ASPM):c.1681G>A (p.Glu561Lys)
|
rs763648822
|
0.00004
|
NM_018136.5(ASPM):c.1975A>G (p.Ile659Val)
|
rs1420934117
|
0.00004
|
NM_018136.5(ASPM):c.2824C>T (p.Arg942Cys)
|
rs546095187
|
0.00004
|
NM_018136.5(ASPM):c.3574A>G (p.Met1192Val)
|
rs376125391
|
0.00004
|
NM_018136.5(ASPM):c.3597T>C (p.His1199=)
|
rs752363848
|
0.00004
|
NM_018136.5(ASPM):c.3726A>G (p.Thr1242=)
|
rs376539395
|
0.00004
|
NM_018136.5(ASPM):c.3811C>T (p.Arg1271Ter)
|
rs140602858
|
0.00004
|
NM_018136.5(ASPM):c.441+10T>G
|
rs587783242
|
0.00004
|
NM_018136.5(ASPM):c.5302C>T (p.Arg1768Trp)
|
rs770335356
|
0.00004
|
NM_018136.5(ASPM):c.5351A>G (p.Tyr1784Cys)
|
rs149376906
|
0.00004
|
NM_018136.5(ASPM):c.6550C>T (p.Arg2184Trp)
|
rs138727741
|
0.00004
|
NM_018136.5(ASPM):c.6568C>T (p.Gln2190Ter)
|
rs199910503
|
0.00004
|
NM_018136.5(ASPM):c.6795C>T (p.Ala2265=)
|
rs750759285
|
0.00004
|
NM_018136.5(ASPM):c.7005C>T (p.His2335=)
|
rs754453682
|
0.00004
|
NM_018136.5(ASPM):c.7033T>C (p.Phe2345Leu)
|
rs761572391
|
0.00004
|
NM_018136.5(ASPM):c.7074A>G (p.Lys2358=)
|
rs587783262
|
0.00004
|
NM_018136.5(ASPM):c.725G>A (p.Arg242His)
|
rs374323328
|
0.00004
|
NM_018136.5(ASPM):c.7701T>C (p.Tyr2567=)
|
rs544467368
|
0.00004
|
NM_018136.5(ASPM):c.7726C>T (p.Leu2576Phe)
|
rs780755563
|
0.00004
|
NM_018136.5(ASPM):c.8616G>A (p.Thr2872=)
|
rs377167359
|
0.00004
|
NM_018136.5(ASPM):c.8691G>T (p.Leu2897=)
|
rs771080907
|
0.00004
|
NM_018136.5(ASPM):c.8757A>T (p.Arg2919Ser)
|
rs751097660
|
0.00004
|
NM_018136.5(ASPM):c.8894A>G (p.Tyr2965Cys)
|
rs754886176
|
0.00004
|
NM_018136.5(ASPM):c.9152G>A (p.Arg3051Gln)
|
rs368000478
|
0.00004
|
NM_018136.5(ASPM):c.9190C>T (p.Arg3064Ter)
|
rs199422185
|
0.00004
|
NM_018136.5(ASPM):c.932G>C (p.Ser311Thr)
|
rs202012380
|
0.00004
|
NM_018136.5(ASPM):c.9910C>T (p.Arg3304Ter)
|
rs587783295
|
0.00004
|
NM_018136.5(ASPM):c.10057T>C (p.Tyr3353His)
|
rs141240137
|
0.00003
|
NM_018136.5(ASPM):c.10331+18G>A
|
rs571179573
|
0.00003
|
NM_018136.5(ASPM):c.1825C>G (p.Pro609Ala)
|
rs760610573
|
0.00003
|
NM_018136.5(ASPM):c.1922-5T>C
|
rs1295728710
|
0.00003
|
NM_018136.5(ASPM):c.2080C>T (p.Arg694Cys)
|
rs367946511
|
0.00003
|
NM_018136.5(ASPM):c.2173+6C>T
|
rs377501585
|
0.00003
|
NM_018136.5(ASPM):c.2761-4A>G
|
rs770875836
|
0.00003
|
NM_018136.5(ASPM):c.3168+11T>G
|
rs752113162
|
0.00003
|
NM_018136.5(ASPM):c.3390+3A>G
|
rs377110373
|
0.00003
|
NM_018136.5(ASPM):c.3698T>C (p.Met1233Thr)
|
rs181039922
|
0.00003
|
NM_018136.5(ASPM):c.4024A>G (p.Lys1342Glu)
|
rs779744390
|
0.00003
|
NM_018136.5(ASPM):c.4035A>G (p.Lys1345=)
|
rs537034419
|
0.00003
|
NM_018136.5(ASPM):c.4329A>G (p.Val1443=)
|
rs564951757
|
0.00003
|
NM_018136.5(ASPM):c.4422G>A (p.Trp1474Ter)
|
rs147622433
|
0.00003
|
NM_018136.5(ASPM):c.4481T>C (p.Ile1494Thr)
|
rs1396783522
|
0.00003
|
NM_018136.5(ASPM):c.4488A>G (p.Lys1496=)
|
rs141695023
|
0.00003
|
NM_018136.5(ASPM):c.4867A>G (p.Met1623Val)
|
rs369399401
|
0.00003
|
NM_018136.5(ASPM):c.5136C>A (p.Tyr1712Ter)
|
rs148294838
|
0.00003
|
NM_018136.5(ASPM):c.5303G>A (p.Arg1768Gln)
|
rs781557550
|
0.00003
|
NM_018136.5(ASPM):c.5603G>A (p.Arg1868Lys)
|
rs761106315
|
0.00003
|
NM_018136.5(ASPM):c.6583C>T (p.Leu2195Phe)
|
rs371020085
|
0.00003
|
NM_018136.5(ASPM):c.7452A>G (p.Ala2484=)
|
rs145884637
|
0.00003
|
NM_018136.5(ASPM):c.7521A>G (p.Ser2507=)
|
rs557610850
|
0.00003
|
NM_018136.5(ASPM):c.7761T>C (p.Tyr2587=)
|
rs189678019
|
0.00003
|
NM_018136.5(ASPM):c.7799A>G (p.Asn2600Ser)
|
rs371852516
|
0.00003
|
NM_018136.5(ASPM):c.7993C>T (p.Arg2665Cys)
|
rs201881549
|
0.00003
|
NM_018136.5(ASPM):c.8523A>G (p.Leu2841=)
|
rs587783281
|
0.00003
|
NM_018136.5(ASPM):c.8587G>T (p.Ala2863Ser)
|
rs1374224839
|
0.00003
|
NM_018136.5(ASPM):c.861T>C (p.Asn287=)
|
rs139670577
|
0.00003
|
NM_018136.5(ASPM):c.8683G>A (p.Ala2895Thr)
|
rs775263946
|
0.00003
|
NM_018136.5(ASPM):c.8779C>T (p.Arg2927Trp)
|
rs759301866
|
0.00003
|
NM_018136.5(ASPM):c.8821-9A>G
|
rs375911555
|
0.00003
|
NM_018136.5(ASPM):c.8986C>T (p.Arg2996Trp)
|
rs772813676
|
0.00003
|
NM_018136.5(ASPM):c.9167C>A (p.Ala3056Asp)
|
rs758869894
|
0.00003
|
NM_018136.5(ASPM):c.927A>G (p.Thr309=)
|
rs963153105
|
0.00003
|
NM_018136.5(ASPM):c.9553G>C (p.Ala3185Pro)
|
rs375985254
|
0.00003
|
NM_018136.5(ASPM):c.10041G>A (p.Leu3347=)
|
rs191340810
|
0.00002
|
NM_018136.5(ASPM):c.10295T>A (p.Ile3432Asn)
|
rs794727443
|
0.00002
|
NM_018136.5(ASPM):c.1790G>A (p.Arg597Gln)
|
rs377444313
|
0.00002
|
NM_018136.5(ASPM):c.1931T>A (p.Ile644Lys)
|
rs759534488
|
0.00002
|
NM_018136.5(ASPM):c.2060A>G (p.Lys687Arg)
|
rs763381773
|
0.00002
|
NM_018136.5(ASPM):c.2064C>T (p.Asn688=)
|
rs199588137
|
0.00002
|
NM_018136.5(ASPM):c.2103G>A (p.Gln701=)
|
rs370972881
|
0.00002
|
NM_018136.5(ASPM):c.2205G>A (p.Glu735=)
|
rs755350285
|
0.00002
|
NM_018136.5(ASPM):c.2419+2T>C
|
rs587783225
|
0.00002
|
NM_018136.5(ASPM):c.2420-12C>T
|
rs756939363
|
0.00002
|
NM_018136.5(ASPM):c.2761G>T (p.Ala921Ser)
|
rs765798033
|
0.00002
|
NM_018136.5(ASPM):c.2791C>T (p.Arg931Ter)
|
rs587783227
|
0.00002
|
NM_018136.5(ASPM):c.2930G>A (p.Arg977His)
|
rs767547880
|
0.00002
|
NM_018136.5(ASPM):c.309A>G (p.Lys103=)
|
rs587783229
|
0.00002
|
NM_018136.5(ASPM):c.3776G>A (p.Arg1259Lys)
|
rs199874115
|
0.00002
|
NM_018136.5(ASPM):c.3938G>A (p.Arg1313Lys)
|
rs200733896
|
0.00002
|
NM_018136.5(ASPM):c.4209T>C (p.His1403=)
|
rs776523167
|
0.00002
|
NM_018136.5(ASPM):c.4346T>C (p.Leu1449Ser)
|
rs763268459
|
0.00002
|
NM_018136.5(ASPM):c.4444C>T (p.Arg1482Trp)
|
rs371997190
|
0.00002
|
NM_018136.5(ASPM):c.4591C>T (p.Arg1531Cys)
|
rs780484121
|
0.00002
|
NM_018136.5(ASPM):c.489A>G (p.Thr163=)
|
rs372355541
|
0.00002
|
NM_018136.5(ASPM):c.5478A>C (p.Ile1826=)
|
rs764346876
|
0.00002
|
NM_018136.5(ASPM):c.5538T>C (p.Ser1846=)
|
rs138311889
|
0.00002
|
NM_018136.5(ASPM):c.5656C>T (p.Arg1886Cys)
|
rs781257567
|
0.00002
|
NM_018136.5(ASPM):c.582T>C (p.Ala194=)
|
rs556849969
|
0.00002
|
NM_018136.5(ASPM):c.5849C>T (p.Ala1950Val)
|
rs368693433
|
0.00002
|
NM_018136.5(ASPM):c.5860C>G (p.Leu1954Val)
|
rs781446128
|
0.00002
|
NM_018136.5(ASPM):c.5939A>G (p.Tyr1980Cys)
|
rs769860568
|
0.00002
|
NM_018136.5(ASPM):c.6058A>G (p.Thr2020Ala)
|
rs587783253
|
0.00002
|
NM_018136.5(ASPM):c.6545T>G (p.Val2182Gly)
|
rs765139526
|
0.00002
|
NM_018136.5(ASPM):c.6765T>G (p.Ala2255=)
|
rs372117505
|
0.00002
|
NM_018136.5(ASPM):c.6812G>A (p.Arg2271Lys)
|
rs565102826
|
0.00002
|
NM_018136.5(ASPM):c.6816A>G (p.Arg2272=)
|
rs769659035
|
0.00002
|
NM_018136.5(ASPM):c.6835A>G (p.Arg2279Gly)
|
rs373818179
|
0.00002
|
NM_018136.5(ASPM):c.6849C>G (p.Leu2283=)
|
rs756622578
|
0.00002
|
NM_018136.5(ASPM):c.6920A>G (p.Gln2307Arg)
|
rs775642269
|
0.00002
|
NM_018136.5(ASPM):c.7025A>C (p.Gln2342Pro)
|
rs772818033
|
0.00002
|
NM_018136.5(ASPM):c.8203T>G (p.Phe2735Val)
|
rs372416792
|
0.00002
|
NM_018136.5(ASPM):c.8383C>G (p.Gln2795Glu)
|
rs776299348
|
0.00002
|
NM_018136.5(ASPM):c.8838T>C (p.Tyr2946=)
|
rs746637313
|
0.00002
|
NM_018136.5(ASPM):c.9229A>G (p.Ile3077Val)
|
rs758783903
|
0.00002
|
NM_018136.5(ASPM):c.9444+9C>A
|
rs374543021
|
0.00002
|
NM_018136.5(ASPM):c.9578G>A (p.Arg3193His)
|
rs373418682
|
0.00002
|
NM_018136.5(ASPM):c.9637-20C>T
|
rs376437905
|
0.00002
|
NM_018136.5(ASPM):c.9834A>G (p.Val3278=)
|
rs201072395
|
0.00002
|
NM_018136.5(ASPM):c.10013A>T (p.Asp3338Val)
|
rs1390576128
|
0.00001
|
NM_018136.5(ASPM):c.10055_10056insGG (p.Ile3352fs)
|
rs754767041
|
0.00001
|
NM_018136.5(ASPM):c.10060C>T (p.Arg3354Ter)
|
rs748529285
|
0.00001
|
NM_018136.5(ASPM):c.10061G>A (p.Arg3354Gln)
|
rs537930821
|
0.00001
|
NM_018136.5(ASPM):c.10148C>T (p.Thr3383Ile)
|
rs375363647
|
0.00001
|
NM_018136.5(ASPM):c.1076A>G (p.His359Arg)
|
rs534221332
|
0.00001
|
NM_018136.5(ASPM):c.1211T>C (p.Met404Thr)
|
rs1159195324
|
0.00001
|
NM_018136.5(ASPM):c.1302T>G (p.Val434=)
|
rs1362146924
|
0.00001
|
NM_018136.5(ASPM):c.1353dup (p.Glu452Ter)
|
rs774814318
|
0.00001
|
NM_018136.5(ASPM):c.1648C>A (p.Pro550Thr)
|
rs764977482
|
0.00001
|
NM_018136.5(ASPM):c.1697C>T (p.Ser566Leu)
|
rs555866170
|
0.00001
|
NM_018136.5(ASPM):c.1698G>A (p.Ser566=)
|
rs372072744
|
0.00001
|
NM_018136.5(ASPM):c.1742T>C (p.Met581Thr)
|
rs757587073
|
0.00001
|
NM_018136.5(ASPM):c.1789C>T (p.Arg597Ter)
|
rs759485449
|
0.00001
|
NM_018136.5(ASPM):c.1802G>T (p.Arg601Ile)
|
rs766146033
|
0.00001
|
NM_018136.5(ASPM):c.1840G>C (p.Val614Leu)
|
rs199813531
|
0.00001
|
NM_018136.5(ASPM):c.1989A>G (p.Ala663=)
|
rs774842102
|
0.00001
|
NM_018136.5(ASPM):c.1A>C (p.Met1Leu)
|
rs767335874
|
0.00001
|
NM_018136.5(ASPM):c.2009T>G (p.Ile670Arg)
|
rs1429110638
|
0.00001
|
NM_018136.5(ASPM):c.2047C>T (p.Pro683Ser)
|
rs750514175
|
0.00001
|
NM_018136.5(ASPM):c.2062A>C (p.Asn688His)
|
rs775158833
|
0.00001
|
NM_018136.5(ASPM):c.2139T>C (p.Pro713=)
|
rs746872796
|
0.00001
|
NM_018136.5(ASPM):c.2144A>T (p.Asp715Val)
|
rs771693058
|
0.00001
|
NM_018136.5(ASPM):c.2195T>C (p.Leu732Ser)
|
rs587783224
|
0.00001
|
NM_018136.5(ASPM):c.2254T>G (p.Ser752Ala)
|
rs794727806
|
0.00001
|
NM_018136.5(ASPM):c.2312G>A (p.Arg771His)
|
rs375059809
|
0.00001
|
NM_018136.5(ASPM):c.2409G>A (p.Trp803Ter)
|
rs1057518269
|
0.00001
|
NM_018136.5(ASPM):c.2488-1G>C
|
rs1321892596
|
0.00001
|
NM_018136.5(ASPM):c.2491A>G (p.Thr831Ala)
|
rs1005582054
|
0.00001
|
NM_018136.5(ASPM):c.2509T>C (p.Ser837Pro)
|
rs763288947
|
0.00001
|
NM_018136.5(ASPM):c.2582T>C (p.Ile861Thr)
|
rs368796558
|
0.00001
|
NM_018136.5(ASPM):c.266T>A (p.Phe89Tyr)
|
rs149942873
|
0.00001
|
NM_018136.5(ASPM):c.2759A>G (p.Lys920Arg)
|
rs372956877
|
0.00001
|
NM_018136.5(ASPM):c.2792G>A (p.Arg931Gln)
|
rs764854489
|
0.00001
|
NM_018136.5(ASPM):c.2834G>T (p.Gly945Val)
|
rs1235898043
|
0.00001
|
NM_018136.5(ASPM):c.2863C>T (p.Gln955Ter)
|
rs774338373
|
0.00001
|
NM_018136.5(ASPM):c.2893G>A (p.Val965Ile)
|
rs778251863
|
0.00001
|
NM_018136.5(ASPM):c.2908G>A (p.Val970Ile)
|
rs754615321
|
0.00001
|
NM_018136.5(ASPM):c.2936+5G>A
|
rs199422150
|
0.00001
|
NM_018136.5(ASPM):c.297+10A>G
|
rs770381141
|
0.00001
|
NM_018136.5(ASPM):c.2977A>G (p.Lys993Glu)
|
rs576139929
|
0.00001
|
NM_018136.5(ASPM):c.3169-12T>C
|
rs1322697936
|
0.00001
|
NM_018136.5(ASPM):c.3195A>G (p.Gln1065=)
|
rs757423960
|
0.00001
|
NM_018136.5(ASPM):c.3244A>G (p.Thr1082Ala)
|
rs149330414
|
0.00001
|
NM_018136.5(ASPM):c.3254T>G (p.Leu1085Arg)
|
rs747679648
|
0.00001
|
NM_018136.5(ASPM):c.3477C>T (p.Asp1159=)
|
rs780036327
|
0.00001
|
NM_018136.5(ASPM):c.3592G>C (p.Asp1198His)
|
rs757999177
|
0.00001
|
NM_018136.5(ASPM):c.3683G>A (p.Gly1228Asp)
|
rs867611929
|
0.00001
|
NM_018136.5(ASPM):c.3796G>T (p.Glu1266Ter)
|
rs199422161
|
0.00001
|
NM_018136.5(ASPM):c.3846A>G (p.Leu1282=)
|
rs745539946
|
0.00001
|
NM_018136.5(ASPM):c.396C>G (p.His132Gln)
|
rs761152464
|
0.00001
|
NM_018136.5(ASPM):c.3980G>A (p.Arg1327Gln)
|
rs776913294
|
0.00001
|
NM_018136.5(ASPM):c.4008A>G (p.Leu1336=)
|
rs181201233
|
0.00001
|
NM_018136.5(ASPM):c.4029G>A (p.Leu1343=)
|
rs138508558
|
0.00001
|
NM_018136.5(ASPM):c.403A>G (p.Ile135Val)
|
rs1218695206
|
0.00001
|
NM_018136.5(ASPM):c.4048G>A (p.Ala1350Thr)
|
rs758550029
|
0.00001
|
NM_018136.5(ASPM):c.4288A>C (p.Met1430Leu)
|
rs1329842909
|
0.00001
|
NM_018136.5(ASPM):c.4310G>A (p.Arg1437His)
|
rs576920584
|
0.00001
|
NM_018136.5(ASPM):c.4336A>G (p.Thr1446Ala)
|
rs1557948352
|
0.00001
|
NM_018136.5(ASPM):c.4360A>G (p.Arg1454Gly)
|
rs769921325
|
0.00001
|
NM_018136.5(ASPM):c.4387A>G (p.Lys1463Glu)
|
rs794727211
|
0.00001
|
NM_018136.5(ASPM):c.4474G>C (p.Val1492Leu)
|
rs587783244
|
0.00001
|
NM_018136.5(ASPM):c.4520A>G (p.Tyr1507Cys)
|
rs751358312
|
0.00001
|
NM_018136.5(ASPM):c.4600T>C (p.Tyr1534His)
|
rs1657346860
|
0.00001
|
NM_018136.5(ASPM):c.4612C>T (p.Arg1538Ter)
|
rs751326753
|
0.00001
|
NM_018136.5(ASPM):c.4707C>A (p.Tyr1569Ter)
|
rs1657341426
|
0.00001
|
NM_018136.5(ASPM):c.4834A>T (p.Ile1612Phe)
|
rs1464543547
|
0.00001
|
NM_018136.5(ASPM):c.4849C>T (p.Arg1617Ter)
|
rs772050241
|
0.00001
|
NM_018136.5(ASPM):c.4854T>G (p.Ala1618=)
|
rs1571602243
|
0.00001
|
NM_018136.5(ASPM):c.4877T>C (p.Leu1626Pro)
|
rs781266143
|
0.00001
|
NM_018136.5(ASPM):c.4951A>G (p.Met1651Val)
|
rs772751994
|
0.00001
|
NM_018136.5(ASPM):c.4964T>G (p.Ile1655Ser)
|
rs531576469
|
0.00001
|
NM_018136.5(ASPM):c.5000G>A (p.Arg1667His)
|
rs754282386
|
0.00001
|
NM_018136.5(ASPM):c.5041G>A (p.Ala1681Thr)
|
rs749889567
|
0.00001
|
NM_018136.5(ASPM):c.5128C>A (p.Gln1710Lys)
|
rs998666143
|
0.00001
|
NM_018136.5(ASPM):c.5209G>A (p.Ala1737Thr)
|
rs1440991737
|
0.00001
|
NM_018136.5(ASPM):c.5244G>A (p.Met1748Ile)
|
rs758202345
|
0.00001
|
NM_018136.5(ASPM):c.5264T>C (p.Val1755Ala)
|
rs776605087
|
0.00001
|
NM_018136.5(ASPM):c.5454C>A (p.Arg1818=)
|
rs1029597546
|
0.00001
|
NM_018136.5(ASPM):c.5476A>G (p.Ile1826Val)
|
rs750236721
|
0.00001
|
NM_018136.5(ASPM):c.5572T>A (p.Tyr1858Asn)
|
rs1338772800
|
0.00001
|
NM_018136.5(ASPM):c.5587A>G (p.Thr1863Ala)
|
rs769813952
|
0.00001
|
NM_018136.5(ASPM):c.5701G>A (p.Ala1901Thr)
|
rs752011786
|
0.00001
|
NM_018136.5(ASPM):c.5762A>G (p.Lys1921Arg)
|
rs1051721111
|
0.00001
|
NM_018136.5(ASPM):c.5850G>A (p.Ala1950=)
|
rs537962201
|
0.00001
|
NM_018136.5(ASPM):c.6022A>G (p.Ser2008Gly)
|
rs751315317
|
0.00001
|
NM_018136.5(ASPM):c.6107T>G (p.Val2036Gly)
|
rs763984813
|
0.00001
|
NM_018136.5(ASPM):c.6129C>T (p.Cys2043=)
|
rs752566786
|
0.00001
|
NM_018136.5(ASPM):c.6172A>G (p.Lys2058Glu)
|
rs774901339
|
0.00001
|
NM_018136.5(ASPM):c.6232C>T (p.Arg2078Ter)
|
rs199422168
|
0.00001
|
NM_018136.5(ASPM):c.6338T>C (p.Ile2113Thr)
|
rs375913831
|
0.00001
|
NM_018136.5(ASPM):c.6381T>A (p.Phe2127Leu)
|
rs937207468
|
0.00001
|
NM_018136.5(ASPM):c.6457T>C (p.Tyr2153His)
|
rs1183851640
|
0.00001
|
NM_018136.5(ASPM):c.6557T>C (p.Leu2186Pro)
|
rs1398749301
|
0.00001
|
NM_018136.5(ASPM):c.659C>T (p.Pro220Leu)
|
rs749422547
|
0.00001
|
NM_018136.5(ASPM):c.6686G>C (p.Arg2229Thr)
|
rs745714332
|
0.00001
|
NM_018136.5(ASPM):c.6708T>A (p.Tyr2236Ter)
|
rs778859631
|
0.00001
|
NM_018136.5(ASPM):c.6759G>A (p.Lys2253=)
|
rs748364690
|
0.00001
|
NM_018136.5(ASPM):c.6882A>G (p.Arg2294=)
|
rs560754851
|
0.00001
|
NM_018136.5(ASPM):c.6890G>A (p.Arg2297Gln)
|
rs1260749790
|
0.00001
|
NM_018136.5(ASPM):c.6960A>G (p.Ser2320=)
|
rs587783260
|
0.00001
|
NM_018136.5(ASPM):c.69G>A (p.Gly23=)
|
rs762856685
|
0.00001
|
NM_018136.5(ASPM):c.7082C>G (p.Ser2361Cys)
|
rs368151024
|
0.00001
|
NM_018136.5(ASPM):c.7149A>G (p.Arg2383=)
|
rs1328600183
|
0.00001
|
NM_018136.5(ASPM):c.7206A>G (p.Arg2402=)
|
rs749944950
|
0.00001
|
NM_018136.5(ASPM):c.7324C>T (p.Arg2442Ter)
|
rs769364943
|
0.00001
|
NM_018136.5(ASPM):c.7544G>A (p.Arg2515Gln)
|
rs751584273
|
0.00001
|
NM_018136.5(ASPM):c.7564T>C (p.Leu2522=)
|
rs1179002848
|
0.00001
|
NM_018136.5(ASPM):c.7578T>C (p.Asn2526=)
|
rs774126283
|
0.00001
|
NM_018136.5(ASPM):c.7950A>G (p.Thr2650=)
|
rs758042126
|
0.00001
|
NM_018136.5(ASPM):c.8058A>C (p.Gln2686His)
|
rs747336758
|
0.00001
|
NM_018136.5(ASPM):c.8079A>G (p.Thr2693=)
|
rs370471247
|
0.00001
|
NM_018136.5(ASPM):c.8094C>T (p.Phe2698=)
|
rs1657158609
|
0.00001
|
NM_018136.5(ASPM):c.8124T>G (p.Tyr2708Ter)
|
rs876661036
|
0.00001
|
NM_018136.5(ASPM):c.8202C>T (p.Asn2734=)
|
rs751417978
|
0.00001
|
NM_018136.5(ASPM):c.8206T>G (p.Leu2736Val)
|
rs140656421
|
0.00001
|
NM_018136.5(ASPM):c.8345C>G (p.Thr2782Ser)
|
rs142244523
|
0.00001
|
NM_018136.5(ASPM):c.8349G>A (p.Gln2783=)
|
rs764359670
|
0.00001
|
NM_018136.5(ASPM):c.8371G>A (p.Gly2791Ser)
|
rs966129910
|
0.00001
|
NM_018136.5(ASPM):c.8388G>A (p.Glu2796=)
|
rs746942806
|
0.00001
|
NM_018136.5(ASPM):c.8476T>C (p.Cys2826Arg)
|
rs760313197
|
0.00001
|
NM_018136.5(ASPM):c.853A>T (p.Asn285Tyr)
|
rs1263905709
|
0.00001
|
NM_018136.5(ASPM):c.8555A>G (p.Tyr2852Cys)
|
rs758945213
|
0.00001
|
NM_018136.5(ASPM):c.8577G>C (p.Gln2859His)
|
rs766154891
|
0.00001
|
NM_018136.5(ASPM):c.8590A>G (p.Ile2864Val)
|
rs759761851
|
0.00001
|
NM_018136.5(ASPM):c.8612G>A (p.Arg2871Lys)
|
rs749128025
|
0.00001
|
NM_018136.5(ASPM):c.8711_8712del (p.Gln2904fs)
|
rs587783283
|
0.00001
|
NM_018136.5(ASPM):c.8733C>T (p.Ser2911=)
|
rs1571596795
|
0.00001
|
NM_018136.5(ASPM):c.8804G>A (p.Ser2935Asn)
|
rs886045762
|
0.00001
|
NM_018136.5(ASPM):c.8836T>C (p.Tyr2946His)
|
rs776868381
|
0.00001
|
NM_018136.5(ASPM):c.8955A>G (p.Gln2985=)
|
rs765715567
|
0.00001
|
NM_018136.5(ASPM):c.9084+4G>A
|
rs762302327
|
0.00001
|
NM_018136.5(ASPM):c.9101G>A (p.Cys3034Tyr)
|
rs79899243
|
0.00001
|
NM_018136.5(ASPM):c.9189A>G (p.Ile3063Met)
|
rs765867212
|
0.00001
|
NM_018136.5(ASPM):c.9303A>G (p.Glu3101=)
|
rs970808820
|
0.00001
|
NM_018136.5(ASPM):c.9383A>G (p.Tyr3128Cys)
|
rs140119849
|
0.00001
|
NM_018136.5(ASPM):c.9454C>T (p.Arg3152Ter)
|
rs587783292
|
0.00001
|
NM_018136.5(ASPM):c.9463T>G (p.Leu3155Val)
|
rs370863233
|
0.00001
|
NM_018136.5(ASPM):c.9567G>A (p.Gln3189=)
|
rs1329510118
|
0.00001
|
NM_018136.5(ASPM):c.9645G>A (p.Trp3215Ter)
|
rs1394353328
|
0.00001
|
NM_018136.5(ASPM):c.9647G>A (p.Arg3216Lys)
|
rs376525687
|
0.00001
|
NM_018136.5(ASPM):c.9659G>A (p.Trp3220Ter)
|
rs77424753
|
0.00001
|
NM_018136.5(ASPM):c.9697C>T (p.Arg3233Ter)
|
rs199422194
|
0.00001
|
NM_018136.5(ASPM):c.9730C>T (p.Arg3244Ter)
|
rs199422195
|
0.00001
|
NM_018136.5(ASPM):c.9923G>A (p.Arg3308His)
|
rs201362977
|
0.00001
|
GRCh37/hg19 1q31.3(chr1:197099068-197112094)x3
|
|
|
NM_018136.5(ASPM):c.10001CAG[1] (p.Ala3335del)
|
rs1329111431
|
|
NM_018136.5(ASPM):c.10005A>C (p.Ala3335=)
|
|
|
NM_018136.5(ASPM):c.10034T>A (p.Ile3345Lys)
|
|
|
NM_018136.5(ASPM):c.1005A>G (p.Val335=)
|
|
|
NM_018136.5(ASPM):c.1008A>G (p.Thr336=)
|
|
|
NM_018136.5(ASPM):c.10126T>C (p.Leu3376=)
|
|
|
NM_018136.5(ASPM):c.10145C>T (p.Thr3382Ile)
|
|
|
NM_018136.5(ASPM):c.10147A>G (p.Thr3383Ala)
|
|
|
NM_018136.5(ASPM):c.10156G>C (p.Ala3386Pro)
|
rs1388514465
|
|
NM_018136.5(ASPM):c.10165G>A (p.Val3389Ile)
|
|
|
NM_018136.5(ASPM):c.10192C>T (p.Arg3398Cys)
|
|
|
NM_018136.5(ASPM):c.10253_10257del (p.Leu3418fs)
|
|
|
NM_018136.5(ASPM):c.10259A>G (p.Lys3420Arg)
|
|
|
NM_018136.5(ASPM):c.10296C>T (p.Ile3432=)
|
|
|
NM_018136.5(ASPM):c.1029T>C (p.Phe343=)
|
|
|
NM_018136.5(ASPM):c.10310T>A (p.Val3437Glu)
|
|
|
NM_018136.5(ASPM):c.10331+5G>T
|
rs368843607
|
|
NM_018136.5(ASPM):c.10332-13T>C
|
rs1558319794
|
|
NM_018136.5(ASPM):c.10332-20dup
|
rs200839523
|
|
NM_018136.5(ASPM):c.10332-40_10332-38del
|
rs537718986
|
|
NM_018136.5(ASPM):c.10332-6del
|
rs200839523
|
|
NM_018136.5(ASPM):c.10335T>G (p.Leu3445=)
|
|
|
NM_018136.5(ASPM):c.10337del (p.Lys3446fs)
|
rs1553325275
|
|
NM_018136.5(ASPM):c.10346G>T (p.Trp3449Leu)
|
|
|
NM_018136.5(ASPM):c.10364A>T (p.Asn3455Ile)
|
|
|
NM_018136.5(ASPM):c.10369del (p.Glu3457fs)
|
rs773107901
|
|
NM_018136.5(ASPM):c.10374A>G (p.Glu3458=)
|
rs2125085174
|
|
NM_018136.5(ASPM):c.1040A>G (p.Asn347Ser)
|
|
|
NM_018136.5(ASPM):c.10415C>T (p.Thr3472Met)
|
|
|
NM_018136.5(ASPM):c.1048C>T (p.Pro350Ser)
|
rs2125114330
|
|
NM_018136.5(ASPM):c.1074A>T (p.Ala358=)
|
|
|
NM_018136.5(ASPM):c.1095T>G (p.Ile365Met)
|
|
|
NM_018136.5(ASPM):c.1113C>G (p.Phe371Leu)
|
|
|
NM_018136.5(ASPM):c.1132C>G (p.Leu378Val)
|
|
|
NM_018136.5(ASPM):c.1138C>T (p.Gln380Ter)
|
rs587783215
|
|
NM_018136.5(ASPM):c.1141G>A (p.Asp381Asn)
|
|
|
NM_018136.5(ASPM):c.1154_1155del (p.Glu385fs)
|
rs199422137
|
|
NM_018136.5(ASPM):c.1162A>C (p.Asn388His)
|
|
|
NM_018136.5(ASPM):c.1170T>A (p.Ile390=)
|
|
|
NM_018136.5(ASPM):c.1172T>A (p.Leu391Ter)
|
|
|
NM_018136.5(ASPM):c.1179del (p.Asn394fs)
|
rs199422138
|
|
NM_018136.5(ASPM):c.1194A>G (p.Lys398=)
|
rs2125114214
|
|
NM_018136.5(ASPM):c.1196A>T (p.Asp399Val)
|
rs1557965585
|
|
NM_018136.5(ASPM):c.1235_1239del (p.Lys412fs)
|
rs1291666293
|
|
NM_018136.5(ASPM):c.1238T>A (p.Val413Glu)
|
rs794727514
|
|
NM_018136.5(ASPM):c.1242A>G (p.Pro414=)
|
|
|
NM_018136.5(ASPM):c.1271A>G (p.Gln424Arg)
|
rs142702540
|
|
NM_018136.5(ASPM):c.1273T>C (p.Ser425Pro)
|
|
|
NM_018136.5(ASPM):c.1300G>C (p.Val434Leu)
|
|
|
NM_018136.5(ASPM):c.1328G>A (p.Gly443Asp)
|
rs568737007
|
|
NM_018136.5(ASPM):c.1364T>C (p.Val455Ala)
|
|
|
NM_018136.5(ASPM):c.1380T>C (p.Asn460=)
|
|
|
NM_018136.5(ASPM):c.1386_1387del (p.Tyr462_Ser463delinsTer)
|
|
|
NM_018136.5(ASPM):c.1408C>G (p.Pro470Ala)
|
|
|
NM_018136.5(ASPM):c.1409_1411delinsTT (p.Pro470fs)
|
rs1571630284
|
|
NM_018136.5(ASPM):c.1429G>A (p.Asp477Asn)
|
|
|
NM_018136.5(ASPM):c.1450A>G (p.Asn484Asp)
|
|
|
NM_018136.5(ASPM):c.1460C>T (p.Pro487Leu)
|
|
|
NM_018136.5(ASPM):c.1505C>G (p.Ala502Gly)
|
|
|
NM_018136.5(ASPM):c.1550_1575dup (p.Gly526fs)
|
|
|
NM_018136.5(ASPM):c.1597AAT[1] (p.Asn534del)
|
rs2125113860
|
|
NM_018136.5(ASPM):c.1599T>A (p.Asn533Lys)
|
|
|
NM_018136.5(ASPM):c.1603_1607del (p.Gln535fs)
|
|
|
NM_018136.5(ASPM):c.1610A>T (p.Glu537Val)
|
|
|
NM_018136.5(ASPM):c.1615_1616del (p.Glu539fs)
|
rs1285151453
|
|
NM_018136.5(ASPM):c.1617A>G (p.Glu539=)
|
|
|
NM_018136.5(ASPM):c.1631_1635del (p.Tyr544fs)
|
rs199422144
|
|
NM_018136.5(ASPM):c.1632T>C (p.Tyr544=)
|
|
|
NM_018136.5(ASPM):c.1672T>G (p.Tyr558Asp)
|
rs1386556330
|
|
NM_018136.5(ASPM):c.1674T>A (p.Tyr558Ter)
|
rs933106143
|
|
NM_018136.5(ASPM):c.1680C>T (p.Asn560=)
|
|
|
NM_018136.5(ASPM):c.1683G>C (p.Glu561Asp)
|
|
|
NM_018136.5(ASPM):c.1688C>A (p.Thr563Lys)
|
|
|
NM_018136.5(ASPM):c.1689A>G (p.Thr563=)
|
|
|
NM_018136.5(ASPM):c.1697C>A (p.Ser566Ter)
|
rs555866170
|
|
NM_018136.5(ASPM):c.1698G>C (p.Ser566=)
|
|
|
NM_018136.5(ASPM):c.1726_1727del (p.Lys576fs)
|
rs1057518268
|
|
NM_018136.5(ASPM):c.1726_1729del (p.Lys576fs)
|
rs587783221
|
|
NM_018136.5(ASPM):c.1729_1730del (p.Ser577fs)
|
rs199422146
|
|
NM_018136.5(ASPM):c.1731C>T (p.Ser577=)
|
|
|
NM_018136.5(ASPM):c.1767A>T (p.Ala589=)
|
rs2125113701
|
|
NM_018136.5(ASPM):c.1801del (p.Arg601fs)
|
rs2125113678
|
|
NM_018136.5(ASPM):c.1808A>C (p.His603Pro)
|
|
|
NM_018136.5(ASPM):c.1845_1847del (p.Lys616del)
|
rs750297982
|
|
NM_018136.5(ASPM):c.1849A>T (p.Thr617Ser)
|
|
|
NM_018136.5(ASPM):c.1880G>A (p.Arg627His)
|
rs373594954
|
|
NM_018136.5(ASPM):c.1885A>G (p.Ser629Gly)
|
|
|
NM_018136.5(ASPM):c.1896_1897del (p.Lys633fs)
|
rs1170413397
|
|
NM_018136.5(ASPM):c.1908GAA[2] (p.Lys639del)
|
|
|
NM_018136.5(ASPM):c.1921+257_1921+259del
|
rs200309104
|
|
NM_018136.5(ASPM):c.1921+3G>A
|
|
|
NM_018136.5(ASPM):c.1922-9T>C
|
|
|
NM_018136.5(ASPM):c.1926A>G (p.Leu642=)
|
rs2125112419
|
|
NM_018136.5(ASPM):c.1959_1962del (p.Asn653fs)
|
rs199422147
|
|
NM_018136.5(ASPM):c.1976T>C (p.Ile659Thr)
|
|
|
NM_018136.5(ASPM):c.1980C>A (p.Ile660=)
|
rs151087446
|
|
NM_018136.5(ASPM):c.1981G>A (p.Ala661Thr)
|
|
|
NM_018136.5(ASPM):c.1983T>C (p.Ala661=)
|
|
|
NM_018136.5(ASPM):c.2003C>A (p.Thr668Asn)
|
|
|
NM_018136.5(ASPM):c.2017T>C (p.Leu673=)
|
|
|
NM_018136.5(ASPM):c.2026+15_2026+20del
|
rs755758403
|
|
NM_018136.5(ASPM):c.2027-13del
|
rs773675080
|
|
NM_018136.5(ASPM):c.2027-17C>A
|
rs368979133
|
|
NM_018136.5(ASPM):c.2027-17C>T
|
rs368979133
|
|
NM_018136.5(ASPM):c.2042C>T (p.Pro681Leu)
|
rs753945250
|
|
NM_018136.5(ASPM):c.2053G>A (p.Ala685Thr)
|
rs2125110399
|
|
NM_018136.5(ASPM):c.2093del (p.Lys698fs)
|
rs765613900
|
|
NM_018136.5(ASPM):c.2096A>C (p.Gln699Pro)
|
|
|
NM_018136.5(ASPM):c.2120T>A (p.Leu707Ter)
|
rs1553227015
|
|
NM_018136.5(ASPM):c.2137C>T (p.Pro713Ser)
|
|
|
NM_018136.5(ASPM):c.2145C>G (p.Asp715Glu)
|
|
|
NM_018136.5(ASPM):c.2158dup (p.Thr720fs)
|
|
|
NM_018136.5(ASPM):c.2173+76del
|
rs35659894
|
|
NM_018136.5(ASPM):c.2173G>C (p.Val725Leu)
|
rs2125110318
|
|
NM_018136.5(ASPM):c.2174-114T>G
|
rs4915345
|
|
NM_018136.5(ASPM):c.2174-303_2174-302del
|
rs201492897
|
|
NM_018136.5(ASPM):c.2174-4C>G
|
rs777766951
|
|
NM_018136.5(ASPM):c.2214T>C (p.His738=)
|
rs1020164709
|
|
NM_018136.5(ASPM):c.2217_2221del (p.Ile740fs)
|
|
|
NM_018136.5(ASPM):c.2226T>C (p.Val742=)
|
|
|
NM_018136.5(ASPM):c.2316_2319del (p.Phe773fs)
|
|
|
NM_018136.5(ASPM):c.2349A>C (p.Lys783Asn)
|
|
|
NM_018136.5(ASPM):c.2371G>A (p.Ala791Thr)
|
|
|
NM_018136.5(ASPM):c.2375G>A (p.Arg792Lys)
|
|
|
NM_018136.5(ASPM):c.2377C>A (p.Arg793=)
|
rs779018406
|
|
NM_018136.5(ASPM):c.2385T>C (p.Ile795=)
|
|
|
NM_018136.5(ASPM):c.2389C>T (p.Arg797Ter)
|
rs145489194
|
|
NM_018136.5(ASPM):c.2393A>C (p.Lys798Thr)
|
|
|
NM_018136.5(ASPM):c.2419+13C>T
|
|
|
NM_018136.5(ASPM):c.2419+18A>C
|
|
|
NM_018136.5(ASPM):c.2419+306G>A
|
rs116303796
|
|
NM_018136.5(ASPM):c.2419+6_2419+7insCTT
|
|
|
NM_018136.5(ASPM):c.2419+6delinsTCTT
|
rs1064795163
|
|
NM_018136.5(ASPM):c.2420-11A>T
|
|
|
NM_018136.5(ASPM):c.2420-2A>G
|
|
|
NM_018136.5(ASPM):c.2425C>T (p.Arg809Cys)
|
|
|
NM_018136.5(ASPM):c.2436C>T (p.Val812=)
|
|
|
NM_018136.5(ASPM):c.2462C>T (p.Pro821Leu)
|
|
|
NM_018136.5(ASPM):c.2487+125C>A
|
rs113682374
|
|
NM_018136.5(ASPM):c.2487+18del
|
rs752298948
|
|
NM_018136.5(ASPM):c.2488-12A>C
|
|
|
NM_018136.5(ASPM):c.2495dup (p.Tyr832Ter)
|
|
|
NM_018136.5(ASPM):c.2512T>G (p.Leu838Val)
|
|
|
NM_018136.5(ASPM):c.2520T>C (p.Asp840=)
|
|
|
NM_018136.5(ASPM):c.2540T>G (p.Leu847Trp)
|
rs2125107891
|
|
NM_018136.5(ASPM):c.2546T>C (p.Met849Thr)
|
|
|
NM_018136.5(ASPM):c.2557A>C (p.Asn853His)
|
rs1553226464
|
|
NM_018136.5(ASPM):c.2562C>G (p.Arg854=)
|
|
|
NM_018136.5(ASPM):c.2592G>A (p.Glu864=)
|
rs769421796
|
|
NM_018136.5(ASPM):c.2601C>G (p.His867Gln)
|
|
|
NM_018136.5(ASPM):c.2629+11C>T
|
|
|
NM_018136.5(ASPM):c.2629+1G>T
|
|
|
NM_018136.5(ASPM):c.2629+4_2629+7del
|
rs1433248622
|
|
NM_018136.5(ASPM):c.2630-14G>A
|
rs2125107558
|
|
NM_018136.5(ASPM):c.2630-20T>C
|
|
|
NM_018136.5(ASPM):c.2634T>C (p.His878=)
|
|
|
NM_018136.5(ASPM):c.2641G>C (p.Ala881Pro)
|
rs142743598
|
|
NM_018136.5(ASPM):c.2642C>T (p.Ala881Val)
|
|
|
NM_018136.5(ASPM):c.2659T>G (p.Leu887Val)
|
|
|
NM_018136.5(ASPM):c.2679G>T (p.Leu893Phe)
|
rs755211990
|
|
NM_018136.5(ASPM):c.267C>A (p.Phe89Leu)
|
|
|
NM_018136.5(ASPM):c.2710del (p.Arg904fs)
|
|
|
NM_018136.5(ASPM):c.2746G>A (p.Asp916Asn)
|
rs747141877
|
|
NM_018136.5(ASPM):c.275_290del (p.Ser92fs)
|
rs2125115970
|
|
NM_018136.5(ASPM):c.2760+12A>G
|
|
|
NM_018136.5(ASPM):c.2761-100_2761-97del
|
rs150344996
|
|
NM_018136.5(ASPM):c.2761-10T>C
|
|
|
NM_018136.5(ASPM):c.2770G>T (p.Glu924Ter)
|
rs749462358
|
|
NM_018136.5(ASPM):c.27C>G (p.Gly9=)
|
|
|
NM_018136.5(ASPM):c.2838A>T (p.Leu946Phe)
|
|
|
NM_018136.5(ASPM):c.2892C>T (p.Ala964=)
|
|
|
NM_018136.5(ASPM):c.2907C>T (p.Ala969=)
|
|
|
NM_018136.5(ASPM):c.2922T>A (p.Cys974Ter)
|
rs886041720
|
|
NM_018136.5(ASPM):c.2936+11_2936+14del
|
rs745619939
|
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NM_018136.5(ASPM):c.2936+132_2936+133dup
|
rs200280533
|
|
NM_018136.5(ASPM):c.2936+132dup
|
rs200280533
|
|
NM_018136.5(ASPM):c.2936+17G>T
|
|
|
NM_018136.5(ASPM):c.2936+7A>G
|
rs768594821
|
|
NM_018136.5(ASPM):c.2943C>G (p.Thr981=)
|
rs1235568030
|
|
NM_018136.5(ASPM):c.2947G>T (p.Glu983Ter)
|
rs1571616951
|
|
NM_018136.5(ASPM):c.2954_2955del (p.Leu985fs)
|
|
|
NM_018136.5(ASPM):c.297+15dup
|
|
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NM_018136.5(ASPM):c.297+265_297+266del
|
rs563345090
|
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NM_018136.5(ASPM):c.297+274AT[10]
|
rs71131744
|
|
NM_018136.5(ASPM):c.297+274AT[7]
|
rs71131744
|
|
NM_018136.5(ASPM):c.297+274AT[8]
|
rs71131744
|
|
NM_018136.5(ASPM):c.297+274AT[9]
|
rs71131744
|
|
NM_018136.5(ASPM):c.297+7C>T
|
rs1571633657
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NM_018136.5(ASPM):c.297G>T (p.Gln99His)
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|
|
NM_018136.5(ASPM):c.2992C>T (p.Pro998Ser)
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NM_018136.5(ASPM):c.2993C>T (p.Pro998Leu)
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|
|
NM_018136.5(ASPM):c.3005G>A (p.Arg1002His)
|
rs749600804
|
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NM_018136.5(ASPM):c.3031A>G (p.Ile1011Val)
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NM_018136.5(ASPM):c.3042A>G (p.Gln1014=)
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NM_018136.5(ASPM):c.3042A>T (p.Gln1014His)
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NM_018136.5(ASPM):c.3046C>T (p.Leu1016Phe)
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|
|
NM_018136.5(ASPM):c.3078G>A (p.Glu1026=)
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|
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NM_018136.5(ASPM):c.3082+1G>C
|
rs886041709
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NM_018136.5(ASPM):c.3082+6A>T
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|
|
NM_018136.5(ASPM):c.3083-37C>G
|
rs117983032
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NM_018136.5(ASPM):c.3083G>A (p.Gly1028Glu)
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|
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NM_018136.5(ASPM):c.3089C>T (p.Thr1030Ile)
|
rs1571616712
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|
NM_018136.5(ASPM):c.3122G>C (p.Arg1041Thr)
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|
|
NM_018136.5(ASPM):c.3168+168A>G
|
rs4915338
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NM_018136.5(ASPM):c.3168+168AT[8]
|
rs34471103
|
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NM_018136.5(ASPM):c.3168+18C>T
|
rs2125105490
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NM_018136.5(ASPM):c.3168+5_3168+7del
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|
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NM_018136.5(ASPM):c.3169-2_3169-1insAA
|
rs761193121
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|
NM_018136.5(ASPM):c.3173A>C (p.Asp1058Ala)
|
rs1330310833
|
|
NM_018136.5(ASPM):c.3176T>G (p.Ile1059Ser)
|
|
|
NM_018136.5(ASPM):c.3183T>C (p.Leu1061=)
|
rs868630671
|
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NM_018136.5(ASPM):c.3185_3189del (p.Asn1062fs)
|
|
|
NM_018136.5(ASPM):c.3204A>G (p.Glu1068=)
|
rs2125105237
|
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NM_018136.5(ASPM):c.3223C>G (p.His1075Asp)
|
rs763084553
|
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NM_018136.5(ASPM):c.3227C>A (p.Thr1076Lys)
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|
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NM_018136.5(ASPM):c.3229A>T (p.Lys1077Ter)
|
rs139317695
|
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NM_018136.5(ASPM):c.3253C>G (p.Leu1085Val)
|
rs540483849
|
|
NM_018136.5(ASPM):c.3303G>A (p.Arg1101=)
|
|
|
NM_018136.5(ASPM):c.3326A>G (p.Tyr1109Cys)
|
rs1557956580
|
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NM_018136.5(ASPM):c.3328A>G (p.Ser1110Gly)
|
|
|
NM_018136.5(ASPM):c.3367G>C (p.Val1123Leu)
|
rs1057523743
|
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NM_018136.5(ASPM):c.3374C>T (p.Ala1125Val)
|
|
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NM_018136.5(ASPM):c.3383A>C (p.Asn1128Thr)
|
|
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NM_018136.5(ASPM):c.3391-18del
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NM_018136.5(ASPM):c.3391-2A>G
|
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|
NM_018136.5(ASPM):c.3395A>T (p.Glu1132Val)
|
rs1479404298
|
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NM_018136.5(ASPM):c.3397A>G (p.Asn1133Asp)
|
rs1204696178
|
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NM_018136.5(ASPM):c.3428dup (p.Leu1144fs)
|
rs886041721
|
|
NM_018136.5(ASPM):c.3471A>G (p.Pro1157=)
|
rs749353893
|
|
NM_018136.5(ASPM):c.3490C>T (p.Arg1164Cys)
|
|
|
NM_018136.5(ASPM):c.3505G>T (p.Val1169Leu)
|
rs1657942497
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NM_018136.5(ASPM):c.3519A>G (p.Gln1173=)
|
|
|
NM_018136.5(ASPM):c.3547T>A (p.Ser1183Thr)
|
rs1085307705
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NM_018136.5(ASPM):c.3554C>A (p.Ser1185Tyr)
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|
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NM_018136.5(ASPM):c.3556G>C (p.Asp1186His)
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|
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NM_018136.5(ASPM):c.3566C>T (p.Ser1189Phe)
|
rs143805893
|
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NM_018136.5(ASPM):c.3569T>C (p.Leu1190Pro)
|
rs781537691
|
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NM_018136.5(ASPM):c.3584A>G (p.Lys1195Arg)
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|
|
NM_018136.5(ASPM):c.3588A>G (p.Ala1196=)
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|
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NM_018136.5(ASPM):c.358G>A (p.Glu120Lys)
|
|
|
NM_018136.5(ASPM):c.3596A>G (p.His1199Arg)
|
|
|
NM_018136.5(ASPM):c.3599-12C>T
|
rs567865981
|
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NM_018136.5(ASPM):c.3599-20C>T
|
|
|
NM_018136.5(ASPM):c.3637G>A (p.Glu1213Lys)
|
|
|
NM_018136.5(ASPM):c.3687A>G (p.Gly1229=)
|
rs2125104275
|
|
NM_018136.5(ASPM):c.370T>C (p.Phe124Leu)
|
rs764255993
|
|
NM_018136.5(ASPM):c.3715A>G (p.Met1239Val)
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|
|
NM_018136.5(ASPM):c.3733G>A (p.Asp1245Asn)
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|
|
NM_018136.5(ASPM):c.3741+12A>G
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|
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NM_018136.5(ASPM):c.3741+1G>A
|
rs199422160
|
|
NM_018136.5(ASPM):c.3742-15G>C
|
|
|
NM_018136.5(ASPM):c.3742-3dup
|
rs587783236
|
|
NM_018136.5(ASPM):c.3752C>G (p.Thr1251Ser)
|
|
|
NM_018136.5(ASPM):c.3759G>A (p.Leu1253=)
|
|
|
NM_018136.5(ASPM):c.3774A>G (p.Ala1258=)
|
|
|
NM_018136.5(ASPM):c.3790C>T (p.Arg1264Cys)
|
|
|
NM_018136.5(ASPM):c.3803G>A (p.Arg1268Lys)
|
rs1316929291
|
|
NM_018136.5(ASPM):c.3819A>C (p.Ile1273=)
|
|
|
NM_018136.5(ASPM):c.3829T>A (p.Trp1277Arg)
|
|
|
NM_018136.5(ASPM):c.3853_3854del (p.Asp1285fs)
|
rs587783239
|
|
NM_018136.5(ASPM):c.3860A>G (p.Lys1287Arg)
|
|
|
NM_018136.5(ASPM):c.3862C>T (p.Arg1288Cys)
|
|
|
NM_018136.5(ASPM):c.3873G>A (p.Glu1291=)
|
rs1571612019
|
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NM_018136.5(ASPM):c.3900A>G (p.Gln1300=)
|
|
|
NM_018136.5(ASPM):c.3945_3946del (p.Arg1315fs)
|
rs587783240
|
|
NM_018136.5(ASPM):c.3948T>A (p.Val1316=)
|
|
|
NM_018136.5(ASPM):c.3964A>T (p.Ile1322Phe)
|
|
|
NM_018136.5(ASPM):c.3978G>A (p.Trp1326Ter)
|
rs137852995
|
|
NM_018136.5(ASPM):c.3979C>T (p.Arg1327Ter)
|
rs886039310
|
|
NM_018136.5(ASPM):c.4010T>C (p.Met1337Thr)
|
|
|
NM_018136.5(ASPM):c.4020G>A (p.Lys1340=)
|
|
|
NM_018136.5(ASPM):c.4022A>C (p.Glu1341Ala)
|
rs2125102450
|
|
NM_018136.5(ASPM):c.4034A>C (p.Lys1345Thr)
|
|
|
NM_018136.5(ASPM):c.4056A>G (p.Ser1352=)
|
|
|
NM_018136.5(ASPM):c.4065+10C>T
|
|
|
NM_018136.5(ASPM):c.4066-18C>T
|
|
|
NM_018136.5(ASPM):c.4066-222A>T
|
rs112887421
|
|
NM_018136.5(ASPM):c.4066-4C>T
|
|
|
NM_018136.5(ASPM):c.4083T>C (p.Tyr1361=)
|
|
|
NM_018136.5(ASPM):c.4101T>A (p.Phe1367Leu)
|
|
|
NM_018136.5(ASPM):c.4115ATT[1] (p.Tyr1373del)
|
rs587783241
|
|
NM_018136.5(ASPM):c.4119T>C (p.Tyr1373=)
|
|
|
NM_018136.5(ASPM):c.4148T>C (p.Met1383Thr)
|
|
|
NM_018136.5(ASPM):c.4157C>T (p.Ala1386Val)
|
|
|
NM_018136.5(ASPM):c.4165T>C (p.Ser1389Pro)
|
rs548193246
|
|
NM_018136.5(ASPM):c.4175G>C (p.Arg1392Pro)
|
rs765050426
|
|
NM_018136.5(ASPM):c.4180C>A (p.Leu1394Ile)
|
rs759544893
|
|
NM_018136.5(ASPM):c.4180C>T (p.Leu1394Phe)
|
rs759544893
|
|
NM_018136.5(ASPM):c.4184G>A (p.Trp1395Ter)
|
|
|
NM_018136.5(ASPM):c.41G>C (p.Ser14Thr)
|
|
|
NM_018136.5(ASPM):c.4208A>G (p.His1403Arg)
|
|
|
NM_018136.5(ASPM):c.420A>C (p.Ala140=)
|
rs1557966450
|
|
NM_018136.5(ASPM):c.4242A>G (p.Gln1414=)
|
|
|
NM_018136.5(ASPM):c.4280T>C (p.Ile1427Thr)
|
rs1657364469
|
|
NM_018136.5(ASPM):c.42C>A (p.Ser14Arg)
|
rs1658785754
|
|
NM_018136.5(ASPM):c.4317G>A (p.Met1439Ile)
|
rs1657362655
|
|
NM_018136.5(ASPM):c.4326A>C (p.Gln1442His)
|
rs753834923
|
|
NM_018136.5(ASPM):c.4342A>G (p.Ile1448Val)
|
|
|
NM_018136.5(ASPM):c.4363G>T (p.Glu1455Ter)
|
rs1057520873
|
|
NM_018136.5(ASPM):c.4367G>A (p.Trp1456Ter)
|
|
|
NM_018136.5(ASPM):c.4381C>T (p.Gln1461Ter)
|
rs2125096695
|
|
NM_018136.5(ASPM):c.4390GAA[1] (p.Glu1465del)
|
|
|
NM_018136.5(ASPM):c.4394A>G (p.Glu1465Gly)
|
rs2125096686
|
|
NM_018136.5(ASPM):c.4407del (p.Ile1470fs)
|
|
|
NM_018136.5(ASPM):c.4409T>C (p.Ile1470Thr)
|
|
|
NM_018136.5(ASPM):c.441+4A>G
|
|
|
NM_018136.5(ASPM):c.4414C>T (p.Gln1472Ter)
|
rs2125096662
|
|
NM_018136.5(ASPM):c.4417T>G (p.Ser1473Ala)
|
rs886043266
|
|
NM_018136.5(ASPM):c.442-4G>T
|
rs1571631775
|
|
NM_018136.5(ASPM):c.4438_4440dup (p.Glu1480dup)
|
rs769728447
|
|
NM_018136.5(ASPM):c.4463G>A (p.Arg1488Lys)
|
|
|
NM_018136.5(ASPM):c.4476T>A (p.Val1492=)
|
rs1557948222
|
|
NM_018136.5(ASPM):c.4515G>C (p.Lys1505Asn)
|
rs1553223789
|
|
NM_018136.5(ASPM):c.4524A>G (p.Lys1508=)
|
|
|
NM_018136.5(ASPM):c.4537T>G (p.Ser1513Ala)
|
|
|
NM_018136.5(ASPM):c.4540A>G (p.Ile1514Val)
|
|
|
NM_018136.5(ASPM):c.4556A>G (p.Lys1519Arg)
|
|
|
NM_018136.5(ASPM):c.456T>C (p.Asp152=)
|
|
|
NM_018136.5(ASPM):c.4592G>A (p.Arg1531His)
|
rs200681905
|
|
NM_018136.5(ASPM):c.4606del (p.Gln1536fs)
|
|
|
NM_018136.5(ASPM):c.4624A>G (p.Ile1542Val)
|
|
|
NM_018136.5(ASPM):c.4655A>G (p.Lys1552Arg)
|
|
|
NM_018136.5(ASPM):c.4661A>G (p.His1554Arg)
|
rs768039817
|
|
NM_018136.5(ASPM):c.4691G>A (p.Cys1564Tyr)
|
|
|
NM_018136.5(ASPM):c.4691G>T (p.Cys1564Phe)
|
|
|
NM_018136.5(ASPM):c.4693del (p.Val1565fs)
|
|
|
NM_018136.5(ASPM):c.4708T>G (p.Trp1570Gly)
|
|
|
NM_018136.5(ASPM):c.4728_4729del (p.Arg1576fs)
|
rs587783245
|
|
NM_018136.5(ASPM):c.4732C>T (p.Arg1578Ter)
|
rs753406334
|
|
NM_018136.5(ASPM):c.4775A>G (p.His1592Arg)
|
|
|
NM_018136.5(ASPM):c.4787A>G (p.His1596Arg)
|
|
|
NM_018136.5(ASPM):c.4795C>T (p.Arg1599Ter)
|
rs199422165
|
|
NM_018136.5(ASPM):c.4806T>C (p.Tyr1602=)
|
|
|
NM_018136.5(ASPM):c.4806T>G (p.Tyr1602Ter)
|
|
|
NM_018136.5(ASPM):c.4844A>C (p.His1615Pro)
|
rs1422965525
|
|
NM_018136.5(ASPM):c.4846T>A (p.Phe1616Ile)
|
rs1657332165
|
|
NM_018136.5(ASPM):c.4870delinsTATATTCTGGT (p.Lys1624fs)
|
rs2125096288
|
|
NM_018136.5(ASPM):c.4881A>G (p.Ala1627=)
|
|
|
NM_018136.5(ASPM):c.4926A>G (p.Ala1642=)
|
|
|
NM_018136.5(ASPM):c.4962C>T (p.His1654=)
|
|
|
NM_018136.5(ASPM):c.4975G>C (p.Val1659Leu)
|
|
|
NM_018136.5(ASPM):c.4987C>G (p.Gln1663Glu)
|
|
|
NM_018136.5(ASPM):c.4999C>T (p.Arg1667Cys)
|
|
|
NM_018136.5(ASPM):c.4999_5000delinsTT (p.Arg1667Phe)
|
|
|
NM_018136.5(ASPM):c.505G>A (p.Val169Ile)
|
rs1557966244
|
|
NM_018136.5(ASPM):c.5064del (p.Val1689fs)
|
rs786205609
|
|
NM_018136.5(ASPM):c.5084G>A (p.Arg1695His)
|
rs541097917
|
|
NM_018136.5(ASPM):c.5084G>T (p.Arg1695Leu)
|
|
|
NM_018136.5(ASPM):c.5101_5102insG (p.Leu1701fs)
|
rs1064793707
|
|
NM_018136.5(ASPM):c.510A>C (p.Ser170=)
|
|
|
NM_018136.5(ASPM):c.5137C>T (p.Arg1713Cys)
|
|
|
NM_018136.5(ASPM):c.5138G>A (p.Arg1713His)
|
rs141297873
|
|
NM_018136.5(ASPM):c.5160A>G (p.Gln1720=)
|
|
|
NM_018136.5(ASPM):c.5164A>T (p.Arg1722Ter)
|
|
|
NM_018136.5(ASPM):c.5186G>A (p.Arg1729Gln)
|
|
|
NM_018136.5(ASPM):c.5196T>A (p.Cys1732Ter)
|
rs587783247
|
|
NM_018136.5(ASPM):c.5210C>A (p.Ala1737Glu)
|
|
|
NM_018136.5(ASPM):c.5233C>T (p.Arg1745Ter)
|
rs587783248
|
|
NM_018136.5(ASPM):c.523_524dup (p.Asn176fs)
|
rs1553228009
|
|
NM_018136.5(ASPM):c.5260G>A (p.Ala1754Thr)
|
rs765319168
|
|
NM_018136.5(ASPM):c.5276A>T (p.Gln1759Leu)
|
|
|
NM_018136.5(ASPM):c.5409del (p.Ala1804fs)
|
rs1461653803
|
|
NM_018136.5(ASPM):c.5416A>T (p.Thr1806Ser)
|
|
|
NM_018136.5(ASPM):c.5422_5425del (p.Leu1808fs)
|
rs1403868262
|
|
NM_018136.5(ASPM):c.5462T>C (p.Ile1821Thr)
|
rs2125095876
|
|
NM_018136.5(ASPM):c.5469A>G (p.Gln1823=)
|
|
|
NM_018136.5(ASPM):c.5497T>A (p.Ser1833Thr)
|
|
|
NM_018136.5(ASPM):c.5549C>G (p.Ser1850Cys)
|
|
|
NM_018136.5(ASPM):c.5575A>G (p.Arg1859Gly)
|
|
|
NM_018136.5(ASPM):c.5576G>C (p.Arg1859Thr)
|
rs1657287577
|
|
NM_018136.5(ASPM):c.5580G>A (p.Ala1860=)
|
|
|
NM_018136.5(ASPM):c.5600C>A (p.Thr1867Lys)
|
|
|
NM_018136.5(ASPM):c.5623A>G (p.Lys1875Glu)
|
|
|
NM_018136.5(ASPM):c.5656C>A (p.Arg1886Ser)
|
rs781257567
|
|
NM_018136.5(ASPM):c.5672G>A (p.Arg1891Gln)
|
|
|
NM_018136.5(ASPM):c.5681_5685del (p.Ile1894fs)
|
rs886041282
|
|
NM_018136.5(ASPM):c.5694T>G (p.His1898Gln)
|
|
|
NM_018136.5(ASPM):c.573A>C (p.Pro191=)
|
rs763655631
|
|
NM_018136.5(ASPM):c.5760T>C (p.Phe1920=)
|
|
|
NM_018136.5(ASPM):c.577C>T (p.Gln193Ter)
|
rs199422134
|
|
NM_018136.5(ASPM):c.5784G>C (p.Gln1928His)
|
|
|
NM_018136.5(ASPM):c.5797G>A (p.Ala1933Thr)
|
|
|
NM_018136.5(ASPM):c.5831A>C (p.Tyr1944Ser)
|
|
|
NM_018136.5(ASPM):c.5842C>T (p.Arg1948Cys)
|
|
|
NM_018136.5(ASPM):c.5889dup (p.Arg1964fs)
|
|
|
NM_018136.5(ASPM):c.5897A>C (p.Gln1966Pro)
|
rs140834556
|
|
NM_018136.5(ASPM):c.5897A>G (p.Gln1966Arg)
|
rs140834556
|
|
NM_018136.5(ASPM):c.5916A>G (p.Lys1972=)
|
|
|
NM_018136.5(ASPM):c.5929A>T (p.Ile1977Leu)
|
|
|
NM_018136.5(ASPM):c.5948T>C (p.Met1983Thr)
|
|
|
NM_018136.5(ASPM):c.5962AAG[1] (p.Lys1989del)
|
rs1184704940
|
|
NM_018136.5(ASPM):c.5974A>G (p.Ile1992Val)
|
|
|
NM_018136.5(ASPM):c.5975_5983del (p.Ile1992_Lys1994del)
|
|
|
NM_018136.5(ASPM):c.5992C>T (p.Leu1998Phe)
|
|
|
NM_018136.5(ASPM):c.6005A>G (p.Lys2002Arg)
|
|
|
NM_018136.5(ASPM):c.6012_6013del (p.Tyr2004_Arg2005delinsTer)
|
|
|
NM_018136.5(ASPM):c.6015_6016del (p.Arg2005fs)
|
|
|
NM_018136.5(ASPM):c.6042T>C (p.Asn2014=)
|
|
|
NM_018136.5(ASPM):c.6075A>G (p.Val2025=)
|
|
|
NM_018136.5(ASPM):c.6082C>T (p.Gln2028Ter)
|
rs1553223496
|
|
NM_018136.5(ASPM):c.6095G>A (p.Arg2032His)
|
|
|
NM_018136.5(ASPM):c.610G>A (p.Gly204Ser)
|
|
|
NM_018136.5(ASPM):c.6112A>C (p.Lys2038Gln)
|
|
|
NM_018136.5(ASPM):c.6115A>G (p.Arg2039Gly)
|
|
|
NM_018136.5(ASPM):c.6119T>A (p.Ile2040Lys)
|
|
|
NM_018136.5(ASPM):c.6136G>A (p.Ala2046Thr)
|
rs1657254396
|
|
NM_018136.5(ASPM):c.6183_6184del (p.Lys2062fs)
|
rs750664956
|
|
NM_018136.5(ASPM):c.6185A>T (p.Lys2062Ile)
|
|
|
NM_018136.5(ASPM):c.6215T>C (p.Ile2072Thr)
|
rs1657250805
|
|
NM_018136.5(ASPM):c.626A>G (p.Asn209Ser)
|
|
|
NM_018136.5(ASPM):c.6307_6308del (p.Val2103fs)
|
rs1657248003
|
|
NM_018136.5(ASPM):c.6335A>G (p.His2112Arg)
|
rs2125095171
|
|
NM_018136.5(ASPM):c.6337_6338del (p.Ile2113fs)
|
rs199422169
|
|
NM_018136.5(ASPM):c.6347T>A (p.Met2116Lys)
|
|
|
NM_018136.5(ASPM):c.6363T>G (p.Thr2121=)
|
|
|
NM_018136.5(ASPM):c.637del (p.Ile213fs)
|
rs587783258
|
|
NM_018136.5(ASPM):c.639A>G (p.Ile213Met)
|
|
|
NM_018136.5(ASPM):c.6416T>C (p.Met2139Thr)
|
rs2125095130
|
|
NM_018136.5(ASPM):c.6458A>G (p.Tyr2153Cys)
|
rs2125095117
|
|
NM_018136.5(ASPM):c.6462T>C (p.Tyr2154=)
|
|
|
NM_018136.5(ASPM):c.6466G>T (p.Gly2156Cys)
|
rs1267196794
|
|
NM_018136.5(ASPM):c.6468T>G (p.Gly2156=)
|
|
|
NM_018136.5(ASPM):c.6482A>G (p.Glu2161Gly)
|
|
|
NM_018136.5(ASPM):c.6510T>G (p.Val2170=)
|
|
|
NM_018136.5(ASPM):c.6545_6548del (p.Val2182fs)
|
rs771583813
|
|
NM_018136.5(ASPM):c.6575C>T (p.Ala2192Val)
|
|
|
NM_018136.5(ASPM):c.6585C>T (p.Leu2195=)
|
|
|
NM_018136.5(ASPM):c.6613C>A (p.Gln2205Lys)
|
|
|
NM_018136.5(ASPM):c.6623_6626del (p.Tyr2208fs)
|
rs1571599902
|
|
NM_018136.5(ASPM):c.6624C>A (p.Tyr2208Ter)
|
rs1226333994
|
|
NM_018136.5(ASPM):c.6639_6642del (p.Lys2213_Lys2214insTer)
|
rs1334301723
|
|
NM_018136.5(ASPM):c.6665G>A (p.Arg2222Lys)
|
rs2125094967
|
|
NM_018136.5(ASPM):c.6686_6689del (p.Arg2229fs)
|
rs770540184
|
|
NM_018136.5(ASPM):c.6692_6693del (p.Ile2231fs)
|
|
|
NM_018136.5(ASPM):c.6711C>A (p.Asn2237Lys)
|
rs755151801
|
|
NM_018136.5(ASPM):c.6712_6715del (p.Asn2237_Lys2238insTer)
|
|
|
NM_018136.5(ASPM):c.6716T>C (p.Leu2239Pro)
|
rs548708212
|
|
NM_018136.5(ASPM):c.6736A>C (p.Ile2246Leu)
|
rs886045769
|
|
NM_018136.5(ASPM):c.6742G>T (p.Ala2248Ser)
|
|
|
NM_018136.5(ASPM):c.6769A>C (p.Arg2257=)
|
|
|
NM_018136.5(ASPM):c.6783_6784delinsTT (p.Met2261_Met2262delinsIleLeu)
|
|
|
NM_018136.5(ASPM):c.6797C>T (p.Ala2266Val)
|
|
|
NM_018136.5(ASPM):c.6843A>G (p.Arg2281=)
|
|
|
NM_018136.5(ASPM):c.6852T>A (p.Ser2284=)
|
rs1557946154
|
|
NM_018136.5(ASPM):c.6852T>C (p.Ser2284=)
|
rs1557946154
|
|
NM_018136.5(ASPM):c.6854_6855del (p.Leu2285fs)
|
rs587783259
|
|
NM_018136.5(ASPM):c.6891G>T (p.Arg2297=)
|
rs776527804
|
|
NM_018136.5(ASPM):c.6915C>G (p.His2305Gln)
|
|
|
NM_018136.5(ASPM):c.6916_6919del (p.Leu2306fs)
|
rs1064795945
|
|
NM_018136.5(ASPM):c.6919C>T (p.Gln2307Ter)
|
rs142865061
|
|
NM_018136.5(ASPM):c.691dup (p.Cys231fs)
|
|
|
NM_018136.5(ASPM):c.6934C>A (p.Gln2312Lys)
|
|
|
NM_018136.5(ASPM):c.6958T>C (p.Ser2320Pro)
|
|
|
NM_018136.5(ASPM):c.6963A>G (p.Ser2321=)
|
rs1169109101
|
|
NM_018136.5(ASPM):c.6983G>A (p.Arg2328Lys)
|
|
|
NM_018136.5(ASPM):c.698G>A (p.Gly233Asp)
|
|
|
NM_018136.5(ASPM):c.6994C>T (p.Arg2332Ter)
|
rs1451306414
|
|
NM_018136.5(ASPM):c.7028C>G (p.Ser2343Cys)
|
|
|
NM_018136.5(ASPM):c.7045A>C (p.Arg2349=)
|
rs771273638
|
|
NM_018136.5(ASPM):c.7049T>A (p.Leu2350Ter)
|
rs2125094632
|
|
NM_018136.5(ASPM):c.7054A>G (p.Met2352Val)
|
|
|
NM_018136.5(ASPM):c.7087G>T (p.Val2363Leu)
|
|
|
NM_018136.5(ASPM):c.7098G>T (p.Gln2366His)
|
rs2125094602
|
|
NM_018136.5(ASPM):c.7105C>T (p.Gln2369Ter)
|
rs751436140
|
|
NM_018136.5(ASPM):c.7110A>C (p.Ala2370=)
|
|
|
NM_018136.5(ASPM):c.7125_7128dup (p.Gln2377fs)
|
rs587783263
|
|
NM_018136.5(ASPM):c.7126C>T (p.Leu2376=)
|
|
|
NM_018136.5(ASPM):c.7134G>A (p.Arg2378=)
|
|
|
NM_018136.5(ASPM):c.7153dup (p.Arg2385fs)
|
rs1553223323
|
|
NM_018136.5(ASPM):c.7160_7161del (p.Ser2387fs)
|
rs587783265
|
|
NM_018136.5(ASPM):c.717C>T (p.Leu239=)
|
|
|
NM_018136.5(ASPM):c.718dup (p.Ser240fs)
|
|
|
NM_018136.5(ASPM):c.71T>G (p.Leu24Arg)
|
rs2125116158
|
|
NM_018136.5(ASPM):c.7215G>A (p.Lys2405=)
|
|
|
NM_018136.5(ASPM):c.7220T>C (p.Met2407Thr)
|
rs747674396
|
|
NM_018136.5(ASPM):c.7235C>A (p.Thr2412Asn)
|
rs376686304
|
|
NM_018136.5(ASPM):c.7252T>C (p.Phe2418Leu)
|
|
|
NM_018136.5(ASPM):c.7261T>G (p.Leu2421Val)
|
|
|
NM_018136.5(ASPM):c.7296dup (p.Ala2433fs)
|
rs876660959
|
|
NM_018136.5(ASPM):c.7324C>G (p.Arg2442Gly)
|
|
|
NM_018136.5(ASPM):c.7325_7332dup (p.Ile2445fs)
|
rs758549961
|
|
NM_018136.5(ASPM):c.7328C>T (p.Ala2443Val)
|
rs1571598933
|
|
NM_018136.5(ASPM):c.7372A>G (p.Arg2458Gly)
|
rs560411441
|
|
NM_018136.5(ASPM):c.7397C>A (p.Ser2466Ter)
|
|
|
NM_018136.5(ASPM):c.7401T>G (p.Ser2467=)
|
|
|
NM_018136.5(ASPM):c.7408A>T (p.Arg2470Ter)
|
|
|
NM_018136.5(ASPM):c.7414A>T (p.Met2472Leu)
|
|
|
NM_018136.5(ASPM):c.7425G>A (p.Lys2475=)
|
|
|
NM_018136.5(ASPM):c.7437A>C (p.Glu2479Asp)
|
rs1404144902
|
|
NM_018136.5(ASPM):c.7464G>T (p.Gln2488His)
|
|
|
NM_018136.5(ASPM):c.7476G>T (p.Arg2492Ser)
|
|
|
NM_018136.5(ASPM):c.7486A>G (p.Thr2496Ala)
|
|
|
NM_018136.5(ASPM):c.7502A>G (p.Gln2501Arg)
|
|
|
NM_018136.5(ASPM):c.7513C>T (p.His2505Tyr)
|
|
|
NM_018136.5(ASPM):c.752A>G (p.His251Arg)
|
rs1658668342
|
|
NM_018136.5(ASPM):c.7565_7566delinsGG (p.Leu2522Trp)
|
rs386638268
|
|
NM_018136.5(ASPM):c.7581_7585del (p.Tyr2527_Arg2529delinsTer)
|
rs765530357
|
|
NM_018136.5(ASPM):c.7582A>T (p.Ile2528Phe)
|
|
|
NM_018136.5(ASPM):c.7674C>A (p.Ile2558=)
|
rs41308365
|
|
NM_018136.5(ASPM):c.7674C>T (p.Ile2558=)
|
rs41308365
|
|
NM_018136.5(ASPM):c.7683A>G (p.Gln2561=)
|
|
|
NM_018136.5(ASPM):c.7683_7684delinsGG (p.Ser2562Gly)
|
rs2125094105
|
|
NM_018136.5(ASPM):c.7698G>A (p.Met2566Ile)
|
|
|
NM_018136.5(ASPM):c.7753G>T (p.Glu2585Ter)
|
rs2125094032
|
|
NM_018136.5(ASPM):c.7755A>G (p.Glu2585=)
|
|
|
NM_018136.5(ASPM):c.7767A>C (p.Ala2589=)
|
|
|
NM_018136.5(ASPM):c.7782_7783del (p.Lys2595fs)
|
rs199422173
|
|
NM_018136.5(ASPM):c.7783_7786del (p.Lys2595fs)
|
rs763800571
|
|
NM_018136.5(ASPM):c.77del (p.Gly26fs)
|
rs199422131
|
|
NM_018136.5(ASPM):c.77dup (p.Ala28fs)
|
rs199422131
|
|
NM_018136.5(ASPM):c.780T>G (p.Asn260Lys)
|
|
|
NM_018136.5(ASPM):c.7812A>T (p.Lys2604Asn)
|
|
|
NM_018136.5(ASPM):c.7830A>C (p.Ala2610=)
|
rs111475965
|
|
NM_018136.5(ASPM):c.7832G>A (p.Gly2611Asp)
|
|
|
NM_018136.5(ASPM):c.7847A>T (p.Asn2616Ile)
|
|
|
NM_018136.5(ASPM):c.7848C>T (p.Asn2616=)
|
|
|
NM_018136.5(ASPM):c.7877A>G (p.Gln2626Arg)
|
|
|
NM_018136.5(ASPM):c.7885A>G (p.Ile2629Val)
|
|
|
NM_018136.5(ASPM):c.7885ATT[2] (p.Ile2631del)
|
|
|
NM_018136.5(ASPM):c.78C>T (p.Gly26=)
|
|
|
NM_018136.5(ASPM):c.7904G>A (p.Cys2635Tyr)
|
|
|
NM_018136.5(ASPM):c.7926G>A (p.Lys2642=)
|
|
|
NM_018136.5(ASPM):c.7927C>T (p.His2643Tyr)
|
|
|
NM_018136.5(ASPM):c.7930T>A (p.Tyr2644Asn)
|
|
|
NM_018136.5(ASPM):c.7966AGA[1] (p.Arg2657del)
|
rs775391911
|
|
NM_018136.5(ASPM):c.7982T>G (p.Leu2661Arg)
|
rs752132953
|
|
NM_018136.5(ASPM):c.7991T>C (p.Val2664Ala)
|
rs1211408172
|
|
NM_018136.5(ASPM):c.7994G>A (p.Arg2665His)
|
|
|
NM_018136.5(ASPM):c.7998C>T (p.Thr2666=)
|
rs1026432286
|
|
NM_018136.5(ASPM):c.8002G>A (p.Ala2668Thr)
|
|
|
NM_018136.5(ASPM):c.8034C>A (p.Gly2678=)
|
rs587783276
|
|
NM_018136.5(ASPM):c.8034C>G (p.Gly2678=)
|
rs587783276
|
|
NM_018136.5(ASPM):c.8043dup (p.Arg2682fs)
|
rs876660960
|
|
NM_018136.5(ASPM):c.8049G>A (p.Lys2683=)
|
|
|
NM_018136.5(ASPM):c.804_805del (p.Lys268fs)
|
rs1658666393
|
|
NM_018136.5(ASPM):c.8050G>A (p.Asp2684Asn)
|
rs1263224475
|
|
NM_018136.5(ASPM):c.8098C>T (p.Arg2700Ter)
|
rs730882076
|
|
NM_018136.5(ASPM):c.8106C>T (p.His2702=)
|
|
|
NM_018136.5(ASPM):c.8133_8136del (p.Lys2712fs)
|
rs587783278
|
|
NM_018136.5(ASPM):c.8161TAT[1] (p.Tyr2722del)
|
rs1223631450
|
|
NM_018136.5(ASPM):c.8165A>G (p.Tyr2722Cys)
|
|
|
NM_018136.5(ASPM):c.818A>G (p.Glu273Gly)
|
rs2125114508
|
|
NM_018136.5(ASPM):c.8191_8192del (p.Glu2731fs)
|
rs199422177
|
|
NM_018136.5(ASPM):c.8204T>C (p.Phe2735Ser)
|
|
|
NM_018136.5(ASPM):c.8249G>C (p.Arg2750Thr)
|
rs2125093619
|
|
NM_018136.5(ASPM):c.8256G>A (p.Met2752Ile)
|
|
|
NM_018136.5(ASPM):c.8261_8264del (p.Val2754fs)
|
|
|
NM_018136.5(ASPM):c.8265A>G (p.Arg2755=)
|
|
|
NM_018136.5(ASPM):c.8266C>T (p.Gln2756Ter)
|
rs763909256
|
|
NM_018136.5(ASPM):c.8283A>G (p.Val2761=)
|
|
|
NM_018136.5(ASPM):c.8294A>C (p.Lys2765Thr)
|
rs886045764
|
|
NM_018136.5(ASPM):c.8309T>G (p.Val2770Gly)
|
rs886043529
|
|
NM_018136.5(ASPM):c.8316A>G (p.Gln2772=)
|
rs1305859807
|
|
NM_018136.5(ASPM):c.8359G>A (p.Val2787Ile)
|
|
|
NM_018136.5(ASPM):c.8377dup (p.Met2793fs)
|
|
|
NM_018136.5(ASPM):c.8427A>G (p.Ala2809=)
|
rs2125093506
|
|
NM_018136.5(ASPM):c.8447G>T (p.Arg2816Met)
|
|
|
NM_018136.5(ASPM):c.8454A>G (p.Ala2818=)
|
|
|
NM_018136.5(ASPM):c.8483T>C (p.Met2828Thr)
|
rs886043946
|
|
NM_018136.5(ASPM):c.8506_8507del (p.Gln2836fs)
|
rs587783280
|
|
NM_018136.5(ASPM):c.850G>A (p.Val284Ile)
|
|
|
NM_018136.5(ASPM):c.8539C>G (p.Leu2847Val)
|
|
|
NM_018136.5(ASPM):c.853_854insCATTTAATTCTGTAA (p.Val284_Asn285insThrPheAsnSerVal)
|
|
|
NM_018136.5(ASPM):c.8546T>A (p.Met2849Lys)
|
|
|
NM_018136.5(ASPM):c.8562A>G (p.Arg2854=)
|
|
|
NM_018136.5(ASPM):c.8589T>C (p.Ala2863=)
|
|
|
NM_018136.5(ASPM):c.8599del (p.Gln2867fs)
|
rs876661154
|
|
NM_018136.5(ASPM):c.8615C>T (p.Thr2872Met)
|
|
|
NM_018136.5(ASPM):c.8625C>G (p.Thr2875=)
|
|
|
NM_018136.5(ASPM):c.8643A>G (p.Leu2881=)
|
|
|
NM_018136.5(ASPM):c.8681G>C (p.Arg2894Thr)
|
|
|
NM_018136.5(ASPM):c.8742_8744del (p.Ile2916del)
|
|
|
NM_018136.5(ASPM):c.8766_8768del (p.Phe2923del)
|
|
|
NM_018136.5(ASPM):c.8820+17_8820+21del
|
|
|
NM_018136.5(ASPM):c.8820+20A>G
|
|
|
NM_018136.5(ASPM):c.8821-52dup
|
rs199941326
|
|
NM_018136.5(ASPM):c.8829G>A (p.Trp2943Ter)
|
rs886043249
|
|
NM_018136.5(ASPM):c.8848A>G (p.Lys2950Glu)
|
rs1558325705
|
|
NM_018136.5(ASPM):c.8850A>G (p.Lys2950=)
|
|
|
NM_018136.5(ASPM):c.8855T>C (p.Leu2952Ser)
|
|
|
NM_018136.5(ASPM):c.8857T>C (p.Cys2953Arg)
|
|
|
NM_018136.5(ASPM):c.8860A>G (p.Lys2954Glu)
|
|
|
NM_018136.5(ASPM):c.8892G>A (p.Trp2964Ter)
|
rs201285805
|
|
NM_018136.5(ASPM):c.8903G>A (p.Trp2968Ter)
|
rs587783285
|
|
NM_018136.5(ASPM):c.8987+11A>G
|
|
|
NM_018136.5(ASPM):c.8987+19G>T
|
|
|
NM_018136.5(ASPM):c.8987+1G>A
|
rs1553326840
|
|
NM_018136.5(ASPM):c.8987+39TG[2]
|
rs200804798
|
|
NM_018136.5(ASPM):c.8988-15A>G
|
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NM_018136.5(ASPM):c.8988-7T>C
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NM_018136.5(ASPM):c.8998G>A (p.Val3000Met)
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rs1280148234
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NM_018136.5(ASPM):c.9018C>G (p.Ile3006Met)
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NM_018136.5(ASPM):c.9033G>C (p.Trp3011Cys)
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NM_018136.5(ASPM):c.9037G>A (p.Ala3013Thr)
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NM_018136.5(ASPM):c.9041T>C (p.Ile3014Thr)
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NM_018136.5(ASPM):c.9042A>G (p.Ile3014Met)
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NM_018136.5(ASPM):c.9047C>T (p.Pro3016Leu)
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NM_018136.5(ASPM):c.9084+14A>G
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NM_018136.5(ASPM):c.9085-19T>C
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NM_018136.5(ASPM):c.9115C>G (p.His3039Asp)
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NM_018136.5(ASPM):c.9118T>G (p.Tyr3040Asp)
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rs2125089562
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NM_018136.5(ASPM):c.9123A>G (p.Arg3041=)
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NM_018136.5(ASPM):c.9159A>G (p.Lys3053=)
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NM_018136.5(ASPM):c.9160T>A (p.Ser3054Thr)
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rs757796113
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NM_018136.5(ASPM):c.9181A>G (p.Lys3061Glu)
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NM_018136.5(ASPM):c.9194C>A (p.Ala3065Asp)
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NM_018136.5(ASPM):c.9202G>C (p.Ala3068Pro)
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rs1558324125
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NM_018136.5(ASPM):c.9250G>A (p.Val3084Ile)
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NM_018136.5(ASPM):c.9252T>A (p.Val3084=)
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NM_018136.5(ASPM):c.9262del (p.Ala3088fs)
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NM_018136.5(ASPM):c.9270G>C (p.Val3090=)
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NM_018136.5(ASPM):c.9294+16T>C
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rs2125089419
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NM_018136.5(ASPM):c.9294+18G>A
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NM_018136.5(ASPM):c.9294+18G>T
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NM_018136.5(ASPM):c.9295-10dup
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NM_018136.5(ASPM):c.9295-5T>A
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NM_018136.5(ASPM):c.929A>T (p.Gln310Leu)
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NM_018136.5(ASPM):c.9324del (p.Leu3109fs)
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rs1163303148
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NM_018136.5(ASPM):c.9333C>T (p.Phe3111=)
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NM_018136.5(ASPM):c.9337del (p.Ala3113fs)
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rs876660961
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NM_018136.5(ASPM):c.9345A>G (p.Ala3115=)
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NM_018136.5(ASPM):c.9394C>T (p.Leu3132=)
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NM_018136.5(ASPM):c.9395T>C (p.Leu3132Pro)
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rs36004306
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NM_018136.5(ASPM):c.9395T>G (p.Leu3132Arg)
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rs36004306
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NM_018136.5(ASPM):c.942T>G (p.His314Gln)
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rs2125114403
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NM_018136.5(ASPM):c.9435C>T (p.Ile3145=)
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NM_018136.5(ASPM):c.9444+6CTT[2]
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rs1343079921
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NM_018136.5(ASPM):c.9444+9C>T
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rs374543021
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NM_018136.5(ASPM):c.9445-205CA[8]
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rs35277950
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NM_018136.5(ASPM):c.9455G>A (p.Arg3152Gln)
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NM_018136.5(ASPM):c.9527A>T (p.Glu3176Val)
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NM_018136.5(ASPM):c.9539_9540delinsCA (p.Gln3180Pro)
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rs2125088445
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NM_018136.5(ASPM):c.9540G>A (p.Gln3180=)
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rs530083972
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NM_018136.5(ASPM):c.9546T>C (p.Asn3182=)
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NM_018136.5(ASPM):c.9555A>G (p.Ala3185=)
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NM_018136.5(ASPM):c.9573A>G (p.Ala3191=)
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rs886044195
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NM_018136.5(ASPM):c.9579C>T (p.Arg3193=)
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rs1571588969
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NM_018136.5(ASPM):c.9592C>T (p.Arg3198Cys)
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rs760292134
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NM_018136.5(ASPM):c.9593G>A (p.Arg3198His)
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rs145333987
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NM_018136.5(ASPM):c.9624C>A (p.Ile3208=)
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NM_018136.5(ASPM):c.9636+19G>A
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NM_018136.5(ASPM):c.9636+4A>G
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rs1131691906
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NM_018136.5(ASPM):c.9637-10T>A
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rs1558322767
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NM_018136.5(ASPM):c.9637-19T>C
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NM_018136.5(ASPM):c.9646A>G (p.Arg3216Gly)
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rs1656740791
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NM_018136.5(ASPM):c.9652T>C (p.Tyr3218His)
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NM_018136.5(ASPM):c.9679A>C (p.Thr3227Pro)
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NM_018136.5(ASPM):c.972_973del (p.Asn324fs)
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rs765275884
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NM_018136.5(ASPM):c.9760G>A (p.Ala3254Thr)
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NM_018136.5(ASPM):c.9789T>G (p.Tyr3263Ter)
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rs199422198
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NM_018136.5(ASPM):c.9807T>C (p.Ile3269=)
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NM_018136.5(ASPM):c.9819A>C (p.Leu3273Phe)
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rs2125088008
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NM_018136.5(ASPM):c.9824A>C (p.His3275Pro)
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rs2125088005
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NM_018136.5(ASPM):c.9825C>A (p.His3275Gln)
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rs1443343127
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NM_018136.5(ASPM):c.9829+10T>C
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NM_018136.5(ASPM):c.9830-16T>G
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NM_018136.5(ASPM):c.9830-17T>G
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NM_018136.5(ASPM):c.9830-17_9830-16insG
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NM_018136.5(ASPM):c.9830-20_9830-18del
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NM_018136.5(ASPM):c.9830-28GT[4]
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rs749305180
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NM_018136.5(ASPM):c.9830-28GT[7]
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rs749305180
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NM_018136.5(ASPM):c.9830-8dup
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rs748383126
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NM_018136.5(ASPM):c.9832G>A (p.Val3278Ile)
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NM_018136.5(ASPM):c.9954T>C (p.Tyr3318=)
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NM_018136.5(ASPM):c.9958G>A (p.Val3320Met)
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NM_018136.5(ASPM):c.9961C>T (p.Gln3321Ter)
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rs1482100822
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NM_018136.5(ASPM):c.9984+204_9984+206del
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rs199936400
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NM_018136.5(ASPM):c.9985-9C>G
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rs1571587031
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NM_018136.5(ASPM):c.9C>A (p.Asn3Lys)
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rs373636557
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NM_018136.5(ASPM):c.9C>T (p.Asn3=)
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