NM_025137.4(SPG11):c.3146-102G>T
|
rs12909507
|
0.99909
|
NM_025137.4(SPG11):c.667+103T>C
|
rs7165146
|
0.65770
|
NM_025137.4(SPG11):c.1388T>C (p.Phe463Ser)
|
rs3759871
|
0.48431
|
NM_025137.4(SPG11):c.4907-365C>T
|
rs2555355
|
0.38470
|
NM_025137.4(SPG11):c.4743+234G>A
|
rs74429074
|
0.31043
|
NM_025137.4(SPG11):c.3291+261G>A
|
rs12324194
|
0.10463
|
NM_025137.4(SPG11):c.3291+294A>G
|
rs12324710
|
0.10270
|
NM_025137.4(SPG11):c.258-113C>A
|
rs79974470
|
0.08458
|
NM_025137.4(SPG11):c.1008-87T>C
|
rs78975199
|
0.08451
|
NM_025137.4(SPG11):c.6206-119A>G
|
rs75833665
|
0.08134
|
NM_025137.4(SPG11):c.4743+291C>T
|
rs144544199
|
0.05130
|
NM_025137.4(SPG11):c.2620+270T>G
|
rs77656273
|
0.04639
|
NM_025137.4(SPG11):c.2317-171C>T
|
rs76309661
|
0.04623
|
NM_025137.4(SPG11):c.6477+194T>C
|
rs78531494
|
0.03553
|
NM_025137.4(SPG11):c.1736-143G>A
|
rs77051719
|
0.03422
|
NM_025137.4(SPG11):c.3420G>A (p.Leu1140=)
|
rs36014111
|
0.03348
|
NM_025137.4(SPG11):c.6477+97G>A
|
rs75210501
|
0.02124
|
NM_025137.4(SPG11):c.257+276G>A
|
rs75281924
|
0.02123
|
NM_025137.4(SPG11):c.6754+19A>G
|
rs116635875
|
0.02121
|
NM_025137.4(SPG11):c.7023C>T (p.Tyr2341=)
|
rs80338869
|
0.02054
|
NM_025137.4(SPG11):c.6585+210T>C
|
rs144630601
|
0.02024
|
NM_025137.4(SPG11):c.1108G>A (p.Glu370Lys)
|
rs77697105
|
0.01678
|
NM_025137.4(SPG11):c.443-316T>G
|
rs114266029
|
0.01372
|
NM_025137.4(SPG11):c.443-212G>C
|
rs112155039
|
0.01314
|
NM_025137.4(SPG11):c.2067+222A>C
|
rs112818446
|
0.01302
|
NM_025137.4(SPG11):c.2083G>A (p.Ala695Thr)
|
rs78183930
|
0.01302
|
NM_025137.4(SPG11):c.257+35G>A
|
rs117101120
|
0.01291
|
NM_025137.4(SPG11):c.1348A>G (p.Ile450Val)
|
rs3759873
|
0.01282
|
NM_025137.4(SPG11):c.6330G>A (p.Gly2110=)
|
rs35932349
|
0.01279
|
NM_025137.4(SPG11):c.442+99C>T
|
rs75927439
|
0.01275
|
NM_025137.4(SPG11):c.1347C>T (p.Thr449=)
|
rs3759874
|
0.01269
|
NM_025137.4(SPG11):c.7256A>G (p.Lys2419Arg)
|
rs76116949
|
0.01253
|
NM_025137.4(SPG11):c.1698T>G (p.Asp566Glu)
|
rs79708848
|
0.01235
|
NM_025137.4(SPG11):c.4636-63A>G
|
rs115758040
|
0.01173
|
NM_025137.4(SPG11):c.6586-111C>T
|
rs79493287
|
0.01098
|
NM_025137.4(SPG11):c.3038+220T>G
|
rs146977031
|
0.00970
|
NM_025137.4(SPG11):c.3037A>G (p.Lys1013Glu)
|
rs111347025
|
0.00958
|
NM_025137.4(SPG11):c.2316+172A>G
|
rs112793928
|
0.00957
|
NM_025137.4(SPG11):c.4810T>C (p.Phe1604Leu)
|
rs116807842
|
0.00956
|
NM_025137.4(SPG11):c.6319G>A (p.Val2107Ile)
|
rs115970214
|
0.00950
|
NM_025137.4(SPG11):c.6344-74C>T
|
rs2277610
|
0.00935
|
NM_025137.4(SPG11):c.870-207A>G
|
rs145474933
|
0.00894
|
NM_025137.4(SPG11):c.3686+266A>G
|
rs57267437
|
0.00871
|
NM_025137.4(SPG11):c.3521-296G>A
|
rs113840402
|
0.00870
|
NM_025137.4(SPG11):c.808G>A (p.Val270Ile)
|
rs80338868
|
0.00845
|
NM_025137.4(SPG11):c.6006+253T>G
|
rs74355314
|
0.00814
|
NM_025137.4(SPG11):c.7197G>A (p.Lys2399=)
|
rs61732733
|
0.00809
|
NM_025137.4(SPG11):c.6007-147C>T
|
rs116029561
|
0.00805
|
NM_025137.4(SPG11):c.667+234A>G
|
rs140282876
|
0.00785
|
NM_025137.4(SPG11):c.6258G>T (p.Leu2086=)
|
rs150761878
|
0.00781
|
NM_025137.4(SPG11):c.6754+50A>G
|
rs199549712
|
0.00780
|
NM_025137.4(SPG11):c.3687-282T>C
|
rs115892090
|
0.00778
|
NM_025137.4(SPG11):c.4162-73T>G
|
rs7171781
|
0.00776
|
NM_025137.4(SPG11):c.3038+270G>A
|
rs74938894
|
0.00752
|
NM_025137.4(SPG11):c.443-179C>T
|
rs75806117
|
0.00747
|
NM_025137.4(SPG11):c.870-154G>A
|
rs76917735
|
0.00745
|
NM_025137.4(SPG11):c.668-213G>A
|
rs115792933
|
0.00742
|
NM_025137.4(SPG11):c.1456+275C>A
|
rs143891528
|
0.00728
|
NM_025137.4(SPG11):c.4635+176G>A
|
rs147160468
|
0.00698
|
NM_025137.4(SPG11):c.3818A>G (p.Lys1273Arg)
|
rs76389165
|
0.00694
|
NM_025137.4(SPG11):c.*243A>G
|
rs116069609
|
0.00669
|
NM_025137.4(SPG11):c.7000-274G>T
|
rs78142819
|
0.00669
|
NM_025137.4(SPG11):c.2621-15T>G
|
rs188590034
|
0.00667
|
NM_025137.4(SPG11):c.3292-287A>C
|
rs111613304
|
0.00661
|
NM_025137.4(SPG11):c.1008-25_1008-24del
|
rs371678656
|
0.00628
|
NM_025137.4(SPG11):c.1456+114A>T
|
rs116251260
|
0.00626
|
NM_025137.4(SPG11):c.2621-28A>G
|
rs112899684
|
0.00616
|
NM_025137.4(SPG11):c.4161+185G>A
|
rs141284090
|
0.00614
|
NM_025137.4(SPG11):c.2244+42T>A
|
rs79743427
|
0.00526
|
NM_025137.4(SPG11):c.4687A>G (p.Arg1563Gly)
|
rs75430389
|
0.00523
|
NM_025137.4(SPG11):c.6755-294T>C
|
rs115293798
|
0.00522
|
NM_025137.4(SPG11):c.3454-275C>A
|
rs78573867
|
0.00519
|
NM_025137.4(SPG11):c.993C>T (p.Ser331=)
|
rs76823973
|
0.00519
|
NM_025137.4(SPG11):c.1456+113T>G
|
rs117607419
|
0.00501
|
NM_025137.4(SPG11):c.1891+97C>T
|
rs139607472
|
0.00487
|
NM_025137.4(SPG11):c.2621-84T>G
|
rs142577391
|
0.00473
|
NM_025137.4(SPG11):c.6344-300A>G
|
rs138489652
|
0.00467
|
NM_025137.4(SPG11):c.3521-130A>G
|
rs146229836
|
0.00457
|
NM_025137.4(SPG11):c.4434+11T>C
|
rs146501021
|
0.00456
|
NM_025137.4(SPG11):c.869+55G>T
|
rs150413709
|
0.00451
|
NM_025137.4(SPG11):c.4923G>C (p.Lys1641Asn)
|
rs150218102
|
0.00449
|
NM_025137.4(SPG11):c.5122-227T>C
|
rs147645643
|
0.00448
|
NM_025137.4(SPG11):c.1457-75T>C
|
rs185233876
|
0.00429
|
NM_025137.4(SPG11):c.6585+150del
|
rs563529236
|
0.00429
|
NM_025137.4(SPG11):c.6206-88A>G
|
rs144670825
|
0.00404
|
NM_025137.4(SPG11):c.1456+259A>G
|
rs77749707
|
0.00399
|
NM_025137.4(SPG11):c.3038+74C>T
|
rs143069428
|
0.00370
|
NM_025137.4(SPG11):c.2656T>C (p.Tyr886His)
|
rs139687202
|
0.00369
|
NM_025137.4(SPG11):c.2621-26T>C
|
rs184308123
|
0.00360
|
NM_025137.4(SPG11):c.64A>G (p.Met22Val)
|
rs34255962
|
0.00354
|
NM_025137.4(SPG11):c.6224A>G (p.Asn2075Ser)
|
rs140824939
|
0.00270
|
NM_025137.4(SPG11):c.258-49A>G
|
rs149934295
|
0.00269
|
NM_025137.4(SPG11):c.4578A>G (p.Thr1526=)
|
rs151137503
|
0.00267
|
NM_025137.4(SPG11):c.4001+9G>T
|
rs141177255
|
0.00220
|
NM_025137.4(SPG11):c.6759C>G (p.Asp2253Glu)
|
rs141818132
|
0.00175
|
NM_025137.4(SPG11):c.3436A>G (p.Ile1146Val)
|
rs114945876
|
0.00165
|
NM_025137.4(SPG11):c.4744-6T>C
|
rs147550048
|
0.00153
|
NM_025137.4(SPG11):c.7069C>T (p.Leu2357Phe)
|
rs139334167
|
0.00147
|
NM_025137.4(SPG11):c.16G>A (p.Gly6Arg)
|
rs200573434
|
0.00145
|
NM_025137.4(SPG11):c.2887A>C (p.Arg963=)
|
rs150689014
|
0.00127
|
NM_025137.4(SPG11):c.4743+257C>T
|
rs184245230
|
0.00124
|
NM_025137.4(SPG11):c.3068A>G (p.Glu1023Gly)
|
rs143145331
|
0.00112
|
NM_025137.4(SPG11):c.5121G>T (p.Glu1707Asp)
|
rs145643238
|
0.00103
|
NM_025137.4(SPG11):c.7161A>T (p.Gln2387His)
|
rs201918221
|
0.00086
|
NM_025137.4(SPG11):c.4755A>C (p.Ala1585=)
|
rs144951661
|
0.00083
|
NM_025137.4(SPG11):c.6344-28C>T
|
rs199934817
|
0.00070
|
NM_025137.4(SPG11):c.4026A>G (p.Gln1342=)
|
rs139887370
|
0.00066
|
NM_025137.4(SPG11):c.1384T>C (p.Cys462Arg)
|
rs139019255
|
0.00058
|
NM_025137.4(SPG11):c.1906C>T (p.Leu636=)
|
rs145316065
|
0.00057
|
NM_025137.4(SPG11):c.7152-14_7152-10dup
|
rs566399432
|
0.00050
|
NM_025137.4(SPG11):c.763A>G (p.Lys255Glu)
|
rs139091750
|
0.00049
|
NM_025137.4(SPG11):c.2874A>C (p.Glu958Asp)
|
rs140164220
|
0.00046
|
NM_025137.4(SPG11):c.1605C>T (p.Ala535=)
|
rs117683234
|
0.00045
|
NM_025137.4(SPG11):c.6632G>A (p.Arg2211His)
|
rs144165094
|
0.00045
|
NM_025137.4(SPG11):c.7000-20T>C
|
rs181702715
|
0.00043
|
NM_025137.4(SPG11):c.6360C>T (p.Ile2120=)
|
rs368605117
|
0.00042
|
NM_025137.4(SPG11):c.1126A>G (p.Asn376Asp)
|
rs199765540
|
0.00041
|
NM_025137.4(SPG11):c.1270C>A (p.Pro424Thr)
|
rs141596008
|
0.00040
|
NM_025137.4(SPG11):c.3486T>C (p.Phe1162=)
|
rs139532029
|
0.00039
|
NM_025137.4(SPG11):c.4413T>C (p.Ser1471=)
|
rs1308576264
|
0.00034
|
NM_025137.4(SPG11):c.257+13G>A
|
rs201936649
|
0.00032
|
NM_025137.4(SPG11):c.257+15A>C
|
rs538988623
|
0.00032
|
NM_025137.4(SPG11):c.1775C>T (p.Ser592Leu)
|
rs373796566
|
0.00029
|
NM_025137.4(SPG11):c.6625C>T (p.Arg2209Cys)
|
rs374057859
|
0.00027
|
NM_025137.4(SPG11):c.2445-20A>T
|
rs545137154
|
0.00026
|
NM_025137.4(SPG11):c.2560G>A (p.Ala854Thr)
|
rs144804884
|
0.00026
|
NM_025137.4(SPG11):c.395G>A (p.Ser132Asn)
|
rs145132275
|
0.00026
|
NM_025137.4(SPG11):c.6284T>C (p.Leu2095Ser)
|
rs185665930
|
0.00026
|
NM_025137.4(SPG11):c.3988C>G (p.Gln1330Glu)
|
rs375363608
|
0.00025
|
NM_025137.4(SPG11):c.6892A>G (p.Ile2298Val)
|
rs147962000
|
0.00025
|
NM_025137.4(SPG11):c.1457-20A>C
|
rs376343587
|
0.00024
|
NM_025137.4(SPG11):c.491C>T (p.Ser164Leu)
|
rs148175530
|
0.00024
|
NM_025137.4(SPG11):c.1670A>G (p.Asn557Ser)
|
rs372263107
|
0.00023
|
NM_025137.4(SPG11):c.6010T>G (p.Leu2004Val)
|
rs200220848
|
0.00022
|
NM_025137.4(SPG11):c.28G>A (p.Ala10Thr)
|
rs372658867
|
0.00021
|
NM_025137.4(SPG11):c.2265A>G (p.Gln755=)
|
rs142909555
|
0.00020
|
NM_025137.4(SPG11):c.5121+12C>G
|
rs199766848
|
0.00020
|
NM_025137.4(SPG11):c.2897G>A (p.Arg966His)
|
rs200281262
|
0.00019
|
NM_025137.4(SPG11):c.3521-16T>A
|
rs770282369
|
0.00019
|
NM_025137.4(SPG11):c.5796T>C (p.His1932=)
|
rs375350193
|
0.00019
|
NM_025137.4(SPG11):c.6786A>G (p.Lys2262=)
|
rs147076862
|
0.00019
|
NM_025137.4(SPG11):c.382A>G (p.Thr128Ala)
|
rs138969879
|
0.00018
|
NM_025137.4(SPG11):c.4873C>T (p.Leu1625Phe)
|
rs371716779
|
0.00017
|
NM_025137.4(SPG11):c.667+5C>T
|
rs375485062
|
0.00017
|
NM_025137.4(SPG11):c.1171A>G (p.Ile391Val)
|
rs145958193
|
0.00016
|
NM_025137.4(SPG11):c.1433A>G (p.Gln478Arg)
|
rs142428867
|
0.00016
|
NM_025137.4(SPG11):c.2169C>T (p.Gly723=)
|
rs371338650
|
0.00016
|
NM_025137.4(SPG11):c.4490A>G (p.Asn1497Ser)
|
rs747973076
|
0.00016
|
NM_025137.4(SPG11):c.5315G>A (p.Arg1772His)
|
rs150823040
|
0.00016
|
NM_025137.4(SPG11):c.5969A>G (p.Tyr1990Cys)
|
rs199920965
|
0.00016
|
NM_025137.4(SPG11):c.6878G>A (p.Arg2293Gln)
|
rs201721414
|
0.00016
|
NM_025137.4(SPG11):c.979C>G (p.Leu327Val)
|
rs146109825
|
0.00016
|
NM_025137.4(SPG11):c.1121C>G (p.Ser374Cys)
|
rs144403346
|
0.00015
|
NM_025137.4(SPG11):c.3520+20T>G
|
rs376883385
|
0.00015
|
NM_025137.4(SPG11):c.5011C>T (p.His1671Tyr)
|
rs141011688
|
0.00015
|
NM_025137.4(SPG11):c.2318T>G (p.Val773Gly)
|
rs182080501
|
0.00014
|
NM_025137.4(SPG11):c.4410C>T (p.Leu1470=)
|
rs145579121
|
0.00014
|
NM_025137.4(SPG11):c.6877C>T (p.Arg2293Trp)
|
rs151317653
|
0.00014
|
NM_025137.4(SPG11):c.7039T>G (p.Trp2347Gly)
|
rs146816632
|
0.00014
|
NM_025137.4(SPG11):c.2075T>C (p.Ile692Thr)
|
rs144012151
|
0.00013
|
NM_025137.4(SPG11):c.2245-13A>G
|
rs200426807
|
0.00013
|
NM_025137.4(SPG11):c.3311A>T (p.Asn1104Ile)
|
rs140247471
|
0.00013
|
NM_025137.4(SPG11):c.5461A>C (p.Arg1821=)
|
rs142526742
|
0.00013
|
NM_025137.4(SPG11):c.5764G>C (p.Ala1922Pro)
|
rs147999915
|
0.00013
|
NM_025137.4(SPG11):c.256C>G (p.His86Asp)
|
rs773123413
|
0.00012
|
NM_025137.4(SPG11):c.45T>C (p.Gly15=)
|
rs371828554
|
0.00012
|
NM_025137.4(SPG11):c.6307A>G (p.Lys2103Glu)
|
rs1199605323
|
0.00012
|
NM_025137.4(SPG11):c.1562A>G (p.Asn521Ser)
|
rs143528472
|
0.00011
|
NM_025137.4(SPG11):c.1869G>A (p.Lys623=)
|
rs374873830
|
0.00011
|
NM_025137.4(SPG11):c.3146-18C>T
|
rs540613714
|
0.00011
|
NM_025137.4(SPG11):c.328A>G (p.Asn110Asp)
|
rs139498464
|
0.00011
|
NM_025137.4(SPG11):c.3549T>G (p.Ser1183=)
|
rs751428578
|
0.00011
|
NM_025137.4(SPG11):c.3558C>G (p.Asp1186Glu)
|
rs201902382
|
0.00011
|
NM_025137.4(SPG11):c.4365G>C (p.Trp1455Cys)
|
rs138103656
|
0.00011
|
NM_025137.4(SPG11):c.44G>A (p.Gly15Asp)
|
rs763155228
|
0.00011
|
NM_025137.4(SPG11):c.5381T>C (p.Leu1794Pro)
|
rs201689565
|
0.00011
|
NM_025137.4(SPG11):c.5608T>C (p.Leu1870=)
|
rs4254299
|
0.00010
|
NM_025137.4(SPG11):c.6477+18C>T
|
rs770736243
|
0.00010
|
NM_025137.4(SPG11):c.6932_6933insGTT (p.Thr2311_Met2312insLeu)
|
rs747133152
|
0.00010
|
NM_025137.4(SPG11):c.1457-4A>G
|
rs773844127
|
0.00009
|
NM_025137.4(SPG11):c.3320G>C (p.Cys1107Ser)
|
rs201271196
|
0.00009
|
NM_025137.4(SPG11):c.377A>G (p.Asp126Gly)
|
rs142097614
|
0.00009
|
NM_025137.4(SPG11):c.425T>C (p.Ile142Thr)
|
rs1428358542
|
0.00009
|
NM_025137.4(SPG11):c.4882G>C (p.Glu1628Gln)
|
rs763204091
|
0.00009
|
NM_025137.4(SPG11):c.6278G>A (p.Arg2093His)
|
rs376817637
|
0.00009
|
NM_025137.4(SPG11):c.6950G>A (p.Gly2317Asp)
|
rs79186522
|
0.00009
|
NM_025137.4(SPG11):c.7132T>C (p.Phe2378Leu)
|
rs150571352
|
0.00009
|
NM_025137.4(SPG11):c.1515C>G (p.Leu505=)
|
rs148556593
|
0.00008
|
NM_025137.4(SPG11):c.1602+10T>G
|
rs201535432
|
0.00008
|
NM_025137.4(SPG11):c.2621-18G>T
|
rs192547979
|
0.00008
|
NM_025137.4(SPG11):c.4093T>C (p.Cys1365Arg)
|
rs144695607
|
0.00008
|
NM_025137.4(SPG11):c.5599G>A (p.Glu1867Lys)
|
rs372419484
|
0.00008
|
NM_025137.4(SPG11):c.5966A>G (p.Asn1989Ser)
|
rs375896392
|
0.00008
|
NM_025137.4(SPG11):c.6205+12C>G
|
rs373329133
|
0.00008
|
NM_025137.4(SPG11):c.10G>A (p.Glu4Lys)
|
rs765163502
|
0.00007
|
NM_025137.4(SPG11):c.1801C>A (p.Pro601Thr)
|
rs775799559
|
0.00007
|
NM_025137.4(SPG11):c.2012A>G (p.His671Arg)
|
rs189306815
|
0.00007
|
NM_025137.4(SPG11):c.3038+14A>G
|
rs774593393
|
0.00007
|
NM_025137.4(SPG11):c.31G>C (p.Ala11Pro)
|
rs529316227
|
0.00007
|
NM_025137.4(SPG11):c.3648G>A (p.Leu1216=)
|
rs370282739
|
0.00007
|
NM_025137.4(SPG11):c.5770A>G (p.Met1924Val)
|
rs949342628
|
0.00007
|
NM_025137.4(SPG11):c.6193T>C (p.Ser2065Pro)
|
rs568406743
|
0.00007
|
NM_025137.4(SPG11):c.6410G>A (p.Arg2137Gln)
|
rs200283964
|
0.00007
|
NM_025137.4(SPG11):c.6699G>A (p.Glu2233=)
|
rs778848426
|
0.00007
|
NM_025137.4(SPG11):c.841G>T (p.Val281Phe)
|
rs754144151
|
0.00007
|
NM_025137.4(SPG11):c.869+20T>C
|
rs372186278
|
0.00007
|
NM_025137.4(SPG11):c.1008-4C>T
|
rs369112409
|
0.00006
|
NM_025137.4(SPG11):c.1187A>G (p.Tyr396Cys)
|
rs3759875
|
0.00006
|
NM_025137.4(SPG11):c.1939A>G (p.Ile647Val)
|
rs375256495
|
0.00006
|
NM_025137.4(SPG11):c.2082C>T (p.Ser694=)
|
rs375179506
|
0.00006
|
NM_025137.4(SPG11):c.2087T>G (p.Ile696Ser)
|
rs150746549
|
0.00006
|
NM_025137.4(SPG11):c.2212A>G (p.Ile738Val)
|
rs746226262
|
0.00006
|
NM_025137.4(SPG11):c.2484T>C (p.Ser828=)
|
rs199707089
|
0.00006
|
NM_025137.4(SPG11):c.2669G>A (p.Arg890His)
|
rs376143651
|
0.00006
|
NM_025137.4(SPG11):c.2903G>C (p.Gly968Ala)
|
rs769129678
|
0.00006
|
NM_025137.4(SPG11):c.2948A>T (p.Lys983Ile)
|
rs765222405
|
0.00006
|
NM_025137.4(SPG11):c.3145+12C>T
|
rs375672539
|
0.00006
|
NM_025137.4(SPG11):c.316G>A (p.Ala106Thr)
|
rs201842512
|
0.00006
|
NM_025137.4(SPG11):c.3362C>G (p.Thr1121Ser)
|
rs552471760
|
0.00006
|
NM_025137.4(SPG11):c.3695A>G (p.Gln1232Arg)
|
rs529595414
|
0.00006
|
NM_025137.4(SPG11):c.4129C>T (p.His1377Tyr)
|
rs773499406
|
0.00006
|
NM_025137.4(SPG11):c.4692T>C (p.Asn1564=)
|
rs149056712
|
0.00006
|
NM_025137.4(SPG11):c.4798G>A (p.Asp1600Asn)
|
rs770380861
|
0.00006
|
NM_025137.4(SPG11):c.5753C>A (p.Ala1918Asp)
|
rs368992436
|
0.00006
|
NM_025137.4(SPG11):c.5793C>G (p.Ile1931Met)
|
rs781271890
|
0.00006
|
NM_025137.4(SPG11):c.5866+10G>A
|
rs375944318
|
0.00006
|
NM_025137.4(SPG11):c.604A>G (p.Met202Val)
|
rs201875705
|
0.00006
|
NM_025137.4(SPG11):c.6157G>A (p.Val2053Met)
|
rs149003934
|
0.00006
|
NM_025137.4(SPG11):c.6387G>A (p.Thr2129=)
|
rs150121550
|
0.00006
|
NM_025137.4(SPG11):c.6424G>A (p.Ala2142Thr)
|
rs141035224
|
0.00006
|
NM_025137.4(SPG11):c.6477+19C>G
|
rs376753565
|
0.00006
|
NM_025137.4(SPG11):c.6478-4del
|
rs779032507
|
0.00006
|
NM_025137.4(SPG11):c.6598A>T (p.Lys2200Ter)
|
rs141263564
|
0.00006
|
NM_025137.4(SPG11):c.6729G>A (p.Leu2243=)
|
rs1050508990
|
0.00006
|
NM_025137.4(SPG11):c.6944A>C (p.Asn2315Thr)
|
rs200276333
|
0.00006
|
NM_025137.4(SPG11):c.7146C>T (p.Ser2382=)
|
rs747227352
|
0.00006
|
NM_025137.4(SPG11):c.7249G>A (p.Glu2417Lys)
|
rs371313584
|
0.00006
|
NM_025137.4(SPG11):c.779C>T (p.Thr260Ile)
|
rs750687972
|
0.00006
|
NM_025137.4(SPG11):c.789A>G (p.Lys263=)
|
rs764439012
|
0.00006
|
NM_025137.4(SPG11):c.937G>A (p.Val313Ile)
|
rs533492925
|
0.00006
|
NM_025137.4(SPG11):c.1085G>A (p.Trp362Ter)
|
rs140385286
|
0.00005
|
NM_025137.4(SPG11):c.1354C>T (p.Leu452Phe)
|
rs141396952
|
0.00005
|
NM_025137.4(SPG11):c.1933A>G (p.Ser645Gly)
|
rs768519061
|
0.00005
|
NM_025137.4(SPG11):c.2431C>T (p.Gln811Ter)
|
rs756134516
|
0.00005
|
NM_025137.4(SPG11):c.3425C>G (p.Ser1142Cys)
|
rs201082396
|
0.00005
|
NM_025137.4(SPG11):c.3453+4C>T
|
rs750025536
|
0.00005
|
NM_025137.4(SPG11):c.3977G>A (p.Ser1326Asn)
|
rs573591432
|
0.00005
|
NM_025137.4(SPG11):c.4907-9T>C
|
rs370372318
|
0.00005
|
NM_025137.4(SPG11):c.5361C>T (p.Asp1787=)
|
rs141421410
|
0.00005
|
NM_025137.4(SPG11):c.5471G>A (p.Arg1824Gln)
|
rs752401008
|
0.00005
|
NM_025137.4(SPG11):c.733_734del (p.Met245fs)
|
rs312262720
|
0.00005
|
NM_025137.4(SPG11):c.935G>A (p.Gly312Asp)
|
rs774273136
|
0.00005
|
NM_025137.4(SPG11):c.*241C>G
|
rs527843501
|
0.00004
|
NM_025137.4(SPG11):c.*299G>T
|
rs774245742
|
0.00004
|
NM_025137.4(SPG11):c.-4C>A
|
rs373060702
|
0.00004
|
NM_025137.4(SPG11):c.1001T>C (p.Ile334Thr)
|
rs760573942
|
0.00004
|
NM_025137.4(SPG11):c.1248G>T (p.Met416Ile)
|
rs371310453
|
0.00004
|
NM_025137.4(SPG11):c.1348dup (p.Ile450fs)
|
rs312262725
|
0.00004
|
NM_025137.4(SPG11):c.1437G>T (p.Gln479His)
|
rs377499551
|
0.00004
|
NM_025137.4(SPG11):c.1821A>G (p.Ser607=)
|
rs181229662
|
0.00004
|
NM_025137.4(SPG11):c.1891+16A>G
|
rs557248278
|
0.00004
|
NM_025137.4(SPG11):c.2066A>G (p.Glu689Gly)
|
rs748241805
|
0.00004
|
NM_025137.4(SPG11):c.2068-4C>T
|
rs774288495
|
0.00004
|
NM_025137.4(SPG11):c.2301T>C (p.Asn767=)
|
rs751121188
|
0.00004
|
NM_025137.4(SPG11):c.23C>G (p.Ala8Gly)
|
rs200939573
|
0.00004
|
NM_025137.4(SPG11):c.2621-8T>C
|
rs771974720
|
0.00004
|
NM_025137.4(SPG11):c.2764G>A (p.Val922Ile)
|
rs139399250
|
0.00004
|
NM_025137.4(SPG11):c.2875T>C (p.Cys959Arg)
|
rs375859622
|
0.00004
|
NM_025137.4(SPG11):c.3189T>G (p.Ile1063Met)
|
rs1196874771
|
0.00004
|
NM_025137.4(SPG11):c.3292-7T>C
|
rs1595876068
|
0.00004
|
NM_025137.4(SPG11):c.3343C>T (p.Leu1115=)
|
rs374565265
|
0.00004
|
NM_025137.4(SPG11):c.3514A>G (p.Ile1172Val)
|
rs151299495
|
0.00004
|
NM_025137.4(SPG11):c.3584A>G (p.Glu1195Gly)
|
rs775875753
|
0.00004
|
NM_025137.4(SPG11):c.3664_3665insT (p.Lys1222fs)
|
rs312262755
|
0.00004
|
NM_025137.4(SPG11):c.36C>T (p.Ser12=)
|
rs368656047
|
0.00004
|
NM_025137.4(SPG11):c.381A>G (p.Ala127=)
|
rs369234511
|
0.00004
|
NM_025137.4(SPG11):c.3848G>A (p.Cys1283Tyr)
|
rs745718551
|
0.00004
|
NM_025137.4(SPG11):c.3867G>A (p.Gln1289=)
|
rs940673994
|
0.00004
|
NM_025137.4(SPG11):c.445A>G (p.Ile149Val)
|
rs1482526173
|
0.00004
|
NM_025137.4(SPG11):c.4907-13C>G
|
rs778489486
|
0.00004
|
NM_025137.4(SPG11):c.5645T>C (p.Ile1882Thr)
|
rs760815236
|
0.00004
|
NM_025137.4(SPG11):c.5725G>A (p.Ala1909Thr)
|
rs140710297
|
0.00004
|
NM_025137.4(SPG11):c.6006+3A>G
|
rs201717063
|
0.00004
|
NM_025137.4(SPG11):c.6043G>A (p.Asp2015Asn)
|
rs771242219
|
0.00004
|
NM_025137.4(SPG11):c.6447C>A (p.His2149Gln)
|
rs373897153
|
0.00004
|
NM_025137.4(SPG11):c.6452C>G (p.Ala2151Gly)
|
rs763676031
|
0.00004
|
NM_025137.4(SPG11):c.6988C>T (p.Arg2330Trp)
|
rs775295729
|
0.00004
|
NM_025137.4(SPG11):c.70C>T (p.Arg24Trp)
|
rs745561381
|
0.00004
|
NM_025137.4(SPG11):c.7189A>C (p.Asn2397His)
|
rs779892720
|
0.00004
|
NM_025137.4(SPG11):c.7202T>C (p.Leu2401Ser)
|
rs139812925
|
0.00004
|
NM_025137.4(SPG11):c.78A>G (p.Leu26=)
|
rs753713965
|
0.00004
|
NM_025137.4(SPG11):c.1030T>C (p.Ser344Pro)
|
rs1235556400
|
0.00003
|
NM_025137.4(SPG11):c.1131C>T (p.His377=)
|
rs148613119
|
0.00003
|
NM_025137.4(SPG11):c.1168G>A (p.Asp390Asn)
|
rs747798305
|
0.00003
|
NM_025137.4(SPG11):c.1273A>G (p.Ile425Val)
|
rs746799947
|
0.00003
|
NM_025137.4(SPG11):c.1286G>A (p.Cys429Tyr)
|
rs374650170
|
0.00003
|
NM_025137.4(SPG11):c.1494A>G (p.Gln498=)
|
rs760202776
|
0.00003
|
NM_025137.4(SPG11):c.1619G>A (p.Arg540His)
|
rs750200448
|
0.00003
|
NM_025137.4(SPG11):c.171G>C (p.Leu57=)
|
rs752630233
|
0.00003
|
NM_025137.4(SPG11):c.1759T>C (p.Leu587=)
|
rs1438765066
|
0.00003
|
NM_025137.4(SPG11):c.1891+8T>A
|
rs370785527
|
0.00003
|
NM_025137.4(SPG11):c.1952G>A (p.Arg651Gln)
|
rs766733736
|
0.00003
|
NM_025137.4(SPG11):c.2003A>G (p.Tyr668Cys)
|
rs764762491
|
0.00003
|
NM_025137.4(SPG11):c.2067+9G>A
|
rs751899105
|
0.00003
|
NM_025137.4(SPG11):c.2146C>A (p.Gln716Lys)
|
rs312262737
|
0.00003
|
NM_025137.4(SPG11):c.2242A>G (p.Met748Val)
|
rs778447918
|
0.00003
|
NM_025137.4(SPG11):c.226G>C (p.Gly76Arg)
|
rs944158756
|
0.00003
|
NM_025137.4(SPG11):c.2377G>A (p.Val793Met)
|
rs546601155
|
0.00003
|
NM_025137.4(SPG11):c.2445-19T>A
|
rs770685534
|
0.00003
|
NM_025137.4(SPG11):c.2556T>C (p.Asn852=)
|
rs754045563
|
0.00003
|
NM_025137.4(SPG11):c.2577A>G (p.Gln859=)
|
rs753130399
|
0.00003
|
NM_025137.4(SPG11):c.2739G>C (p.Gln913His)
|
rs1209247230
|
0.00003
|
NM_025137.4(SPG11):c.2834+1G>T
|
rs312262749
|
0.00003
|
NM_025137.4(SPG11):c.2834+20A>G
|
rs368325394
|
0.00003
|
NM_025137.4(SPG11):c.2917G>C (p.Asp973His)
|
rs746774397
|
0.00003
|
NM_025137.4(SPG11):c.3176C>T (p.Ala1059Val)
|
rs759301637
|
0.00003
|
NM_025137.4(SPG11):c.3178A>G (p.Asn1060Asp)
|
rs1567161567
|
0.00003
|
NM_025137.4(SPG11):c.3228A>G (p.Leu1076=)
|
rs375911466
|
0.00003
|
NM_025137.4(SPG11):c.3292-1G>T
|
rs201217015
|
0.00003
|
NM_025137.4(SPG11):c.3453+8A>G
|
rs1380778736
|
0.00003
|
NM_025137.4(SPG11):c.3551G>T (p.Ser1184Ile)
|
rs766403944
|
0.00003
|
NM_025137.4(SPG11):c.3611A>G (p.His1204Arg)
|
rs769221549
|
0.00003
|
NM_025137.4(SPG11):c.361A>C (p.Lys121Gln)
|
rs778960331
|
0.00003
|
NM_025137.4(SPG11):c.3749T>C (p.Ile1250Thr)
|
rs763244237
|
0.00003
|
NM_025137.4(SPG11):c.3894C>T (p.Ala1298=)
|
rs1352070054
|
0.00003
|
NM_025137.4(SPG11):c.3946C>T (p.Leu1316Phe)
|
rs764652074
|
0.00003
|
NM_025137.4(SPG11):c.4070T>C (p.Leu1357Pro)
|
rs367550468
|
0.00003
|
NM_025137.4(SPG11):c.4137A>G (p.Gln1379=)
|
rs748617459
|
0.00003
|
NM_025137.4(SPG11):c.4972C>T (p.His1658Tyr)
|
rs775877332
|
0.00003
|
NM_025137.4(SPG11):c.4997T>C (p.Ile1666Thr)
|
rs1008817337
|
0.00003
|
NM_025137.4(SPG11):c.5103C>T (p.Asp1701=)
|
rs991666334
|
0.00003
|
NM_025137.4(SPG11):c.5187C>T (p.Asp1729=)
|
rs1042076487
|
0.00003
|
NM_025137.4(SPG11):c.5362G>A (p.Val1788Met)
|
rs200918991
|
0.00003
|
NM_025137.4(SPG11):c.5414G>A (p.Arg1805His)
|
rs775768037
|
0.00003
|
NM_025137.4(SPG11):c.5416A>G (p.Ile1806Val)
|
rs1427065816
|
0.00003
|
NM_025137.4(SPG11):c.5520G>A (p.Glu1840=)
|
rs776721395
|
0.00003
|
NM_025137.4(SPG11):c.5613T>C (p.Asp1871=)
|
rs146251582
|
0.00003
|
NM_025137.4(SPG11):c.5650C>T (p.Arg1884Cys)
|
rs752889027
|
0.00003
|
NM_025137.4(SPG11):c.5651G>T (p.Arg1884Leu)
|
rs767776590
|
0.00003
|
NM_025137.4(SPG11):c.5695C>T (p.Arg1899Trp)
|
rs748177028
|
0.00003
|
NM_025137.4(SPG11):c.5817G>A (p.Glu1939=)
|
rs146961070
|
0.00003
|
NM_025137.4(SPG11):c.5863A>G (p.Ser1955Gly)
|
rs1479657715
|
0.00003
|
NM_025137.4(SPG11):c.6028G>T (p.Asp2010Tyr)
|
rs1060501171
|
0.00003
|
NM_025137.4(SPG11):c.6062G>A (p.Arg2021Gln)
|
rs375420533
|
0.00003
|
NM_025137.4(SPG11):c.6091C>G (p.Arg2031Gly)
|
rs147713329
|
0.00003
|
NM_025137.4(SPG11):c.6100C>T (p.Arg2034Ter)
|
rs118203963
|
0.00003
|
NM_025137.4(SPG11):c.616dup (p.Thr206fs)
|
rs756103019
|
0.00003
|
NM_025137.4(SPG11):c.6176G>A (p.Arg2059Gln)
|
rs757619567
|
0.00003
|
NM_025137.4(SPG11):c.634A>G (p.Ile212Val)
|
rs758638438
|
0.00003
|
NM_025137.4(SPG11):c.6402C>T (p.Gly2134=)
|
rs745801884
|
0.00003
|
NM_025137.4(SPG11):c.6481C>T (p.Arg2161Trp)
|
rs773954273
|
0.00003
|
NM_025137.4(SPG11):c.6585G>A (p.Pro2195=)
|
rs1206211976
|
0.00003
|
NM_025137.4(SPG11):c.6586-8C>T
|
rs778033975
|
0.00003
|
NM_025137.4(SPG11):c.6621C>G (p.Ile2207Met)
|
rs758008249
|
0.00003
|
NM_025137.4(SPG11):c.6686G>A (p.Arg2229Gln)
|
rs781690910
|
0.00003
|
NM_025137.4(SPG11):c.66G>A (p.Met22Ile)
|
rs1168936368
|
0.00003
|
NM_025137.4(SPG11):c.6766A>C (p.Lys2256Gln)
|
rs771589139
|
0.00003
|
NM_025137.4(SPG11):c.6851G>A (p.Cys2284Tyr)
|
rs760841252
|
0.00003
|
NM_025137.4(SPG11):c.6857G>A (p.Arg2286Gln)
|
rs370773328
|
0.00003
|
NM_025137.4(SPG11):c.6864_6866dup (p.Ala2288_Gln2289insHis)
|
rs1331704584
|
0.00003
|
NM_025137.4(SPG11):c.6952C>T (p.Arg2318Cys)
|
rs377341108
|
0.00003
|
NM_025137.4(SPG11):c.7107G>T (p.Gln2369His)
|
rs551095608
|
0.00003
|
NM_025137.4(SPG11):c.7152-7T>A
|
rs759692377
|
0.00003
|
NM_025137.4(SPG11):c.7245A>T (p.Ala2415=)
|
rs774478465
|
0.00003
|
NM_025137.4(SPG11):c.7302T>C (p.Gly2434=)
|
rs1051055977
|
0.00003
|
NM_025137.4(SPG11):c.89T>G (p.Leu30Trp)
|
rs750684185
|
0.00003
|
NM_025137.4(SPG11):c.1178A>G (p.His393Arg)
|
rs144038708
|
0.00002
|
NM_025137.4(SPG11):c.1182G>A (p.Gly394=)
|
rs199968487
|
0.00002
|
NM_025137.4(SPG11):c.1214A>C (p.Lys405Thr)
|
rs756326438
|
0.00002
|
NM_025137.4(SPG11):c.1269A>G (p.Glu423=)
|
rs776092174
|
0.00002
|
NM_025137.4(SPG11):c.1689T>G (p.Ser563=)
|
rs748537508
|
0.00002
|
NM_025137.4(SPG11):c.1736-18T>G
|
rs771518380
|
0.00002
|
NM_025137.4(SPG11):c.176C>T (p.Ala59Val)
|
rs552320263
|
0.00002
|
NM_025137.4(SPG11):c.1951C>T (p.Arg651Ter)
|
rs199588440
|
0.00002
|
NM_025137.4(SPG11):c.1965A>T (p.Ile655=)
|
rs146415287
|
0.00002
|
NM_025137.4(SPG11):c.2008G>A (p.Val670Ile)
|
rs761249365
|
0.00002
|
NM_025137.4(SPG11):c.2039G>T (p.Ser680Ile)
|
rs745860301
|
0.00002
|
NM_025137.4(SPG11):c.206C>T (p.Thr69Met)
|
rs764422997
|
0.00002
|
NM_025137.4(SPG11):c.2145T>C (p.Ala715=)
|
rs761155521
|
0.00002
|
NM_025137.4(SPG11):c.2228A>G (p.Glu743Gly)
|
rs199617257
|
0.00002
|
NM_025137.4(SPG11):c.2280C>T (p.Cys760=)
|
rs567932275
|
0.00002
|
NM_025137.4(SPG11):c.2285A>G (p.Tyr762Cys)
|
rs747681565
|
0.00002
|
NM_025137.4(SPG11):c.2299A>G (p.Asn767Asp)
|
rs370774571
|
0.00002
|
NM_025137.4(SPG11):c.2306G>A (p.Arg769His)
|
rs368151745
|
0.00002
|
NM_025137.4(SPG11):c.2317-13C>G
|
rs372670941
|
0.00002
|
NM_025137.4(SPG11):c.2444+13G>C
|
rs1347072799
|
0.00002
|
NM_025137.4(SPG11):c.2561C>T (p.Ala854Val)
|
rs758923470
|
0.00002
|
NM_025137.4(SPG11):c.258-2A>C
|
rs781665076
|
0.00002
|
NM_025137.4(SPG11):c.2621-12T>G
|
rs775433435
|
0.00002
|
NM_025137.4(SPG11):c.2767G>C (p.Asp923His)
|
rs910680613
|
0.00002
|
NM_025137.4(SPG11):c.2768A>G (p.Asp923Gly)
|
rs772514266
|
0.00002
|
NM_025137.4(SPG11):c.2834+6A>G
|
rs766369623
|
0.00002
|
NM_025137.4(SPG11):c.3095C>T (p.Pro1032Leu)
|
rs141106870
|
0.00002
|
NM_025137.4(SPG11):c.3145+11A>C
|
rs750642025
|
0.00002
|
NM_025137.4(SPG11):c.3146-6T>G
|
rs777849932
|
0.00002
|
NM_025137.4(SPG11):c.3291+9A>G
|
rs769740604
|
0.00002
|
NM_025137.4(SPG11):c.329A>G (p.Asn110Ser)
|
rs200665034
|
0.00002
|
NM_025137.4(SPG11):c.3394C>T (p.Pro1132Ser)
|
rs891639488
|
0.00002
|
NM_025137.4(SPG11):c.3687-11T>G
|
rs967897890
|
0.00002
|
NM_025137.4(SPG11):c.4041G>A (p.Val1347=)
|
rs377066151
|
0.00002
|
NM_025137.4(SPG11):c.411A>G (p.Ala137=)
|
rs1438909897
|
0.00002
|
NM_025137.4(SPG11):c.4122C>T (p.Phe1374=)
|
rs1194478318
|
0.00002
|
NM_025137.4(SPG11):c.4435-8C>T
|
rs745830340
|
0.00002
|
NM_025137.4(SPG11):c.443G>A (p.Ser148Asn)
|
rs141990871
|
0.00002
|
NM_025137.4(SPG11):c.4643C>T (p.Pro1548Leu)
|
rs368706788
|
0.00002
|
NM_025137.4(SPG11):c.4746_4747insTG (p.Asn1583Ter)
|
rs764186203
|
0.00002
|
NM_025137.4(SPG11):c.483T>C (p.Asn161=)
|
rs772205877
|
0.00002
|
NM_025137.4(SPG11):c.4940A>G (p.Gln1647Arg)
|
rs1326184542
|
0.00002
|
NM_025137.4(SPG11):c.5040G>T (p.Leu1680=)
|
rs748057725
|
0.00002
|
NM_025137.4(SPG11):c.5074G>A (p.Val1692Ile)
|
rs764497276
|
0.00002
|
NM_025137.4(SPG11):c.5120A>G (p.Glu1707Gly)
|
rs747956329
|
0.00002
|
NM_025137.4(SPG11):c.5201G>T (p.Cys1734Phe)
|
rs780601824
|
0.00002
|
NM_025137.4(SPG11):c.5223T>C (p.Asn1741=)
|
rs202244309
|
0.00002
|
NM_025137.4(SPG11):c.5407C>T (p.Leu1803=)
|
rs200102584
|
0.00002
|
NM_025137.4(SPG11):c.5623C>T (p.Gln1875Ter)
|
rs141848292
|
0.00002
|
NM_025137.4(SPG11):c.5635A>C (p.Asn1879His)
|
rs759595222
|
0.00002
|
NM_025137.4(SPG11):c.5696G>A (p.Arg1899Gln)
|
rs768303307
|
0.00002
|
NM_025137.4(SPG11):c.5724C>T (p.Val1908=)
|
rs369869911
|
0.00002
|
NM_025137.4(SPG11):c.5790G>T (p.Glu1930Asp)
|
rs972738967
|
0.00002
|
NM_025137.4(SPG11):c.5839G>A (p.Asp1947Asn)
|
rs751801619
|
0.00002
|
NM_025137.4(SPG11):c.5907C>T (p.Ser1969=)
|
rs759132764
|
0.00002
|
NM_025137.4(SPG11):c.6013G>A (p.Gly2005Ser)
|
rs776764189
|
0.00002
|
NM_025137.4(SPG11):c.617C>T (p.Thr206Met)
|
rs763340583
|
0.00002
|
NM_025137.4(SPG11):c.6205+14C>T
|
rs766366279
|
0.00002
|
NM_025137.4(SPG11):c.6250C>T (p.Leu2084Phe)
|
rs754874642
|
0.00002
|
NM_025137.4(SPG11):c.6277C>T (p.Arg2093Cys)
|
rs772336846
|
0.00002
|
NM_025137.4(SPG11):c.6497T>C (p.Ile2166Thr)
|
rs199873327
|
0.00002
|
NM_025137.4(SPG11):c.6502A>G (p.Arg2168Gly)
|
rs371301157
|
0.00002
|
NM_025137.4(SPG11):c.6539A>T (p.His2180Leu)
|
rs1470051584
|
0.00002
|
NM_025137.4(SPG11):c.6561G>A (p.Val2187=)
|
rs376951822
|
0.00002
|
NM_025137.4(SPG11):c.668-12T>A
|
rs373742527
|
0.00002
|
NM_025137.4(SPG11):c.6719G>A (p.Arg2240His)
|
rs766384717
|
0.00002
|
NM_025137.4(SPG11):c.6736A>G (p.Ile2246Val)
|
rs770110397
|
0.00002
|
NM_025137.4(SPG11):c.6737T>C (p.Ile2246Thr)
|
rs762209905
|
0.00002
|
NM_025137.4(SPG11):c.6738T>G (p.Ile2246Met)
|
rs776998679
|
0.00002
|
NM_025137.4(SPG11):c.6810T>C (p.Thr2270=)
|
rs750460016
|
0.00002
|
NM_025137.4(SPG11):c.6844-19C>G
|
rs539232104
|
0.00002
|
NM_025137.4(SPG11):c.6953G>A (p.Arg2318His)
|
rs768408465
|
0.00002
|
NM_025137.4(SPG11):c.7013C>T (p.Ala2338Val)
|
rs368902742
|
0.00002
|
NM_025137.4(SPG11):c.7034C>T (p.Pro2345Leu)
|
rs748206574
|
0.00002
|
NM_025137.4(SPG11):c.704_705del (p.His235fs)
|
rs312262719
|
0.00002
|
NM_025137.4(SPG11):c.7092G>A (p.Leu2364=)
|
rs1312904222
|
0.00002
|
NM_025137.4(SPG11):c.7177A>T (p.Met2393Leu)
|
rs888840813
|
0.00002
|
NM_025137.4(SPG11):c.7212T>C (p.Tyr2404=)
|
rs1288255586
|
0.00002
|
NM_025137.4(SPG11):c.732C>T (p.Asp244=)
|
rs745572647
|
0.00002
|
NM_025137.4(SPG11):c.737G>A (p.Cys246Tyr)
|
rs376828731
|
0.00002
|
NM_025137.4(SPG11):c.756G>A (p.Glu252=)
|
rs762704140
|
0.00002
|
NM_025137.4(SPG11):c.820G>A (p.Val274Ile)
|
rs543316224
|
0.00002
|
NM_025137.4(SPG11):c.837C>T (p.Ser279=)
|
rs563928976
|
0.00002
|
NM_025137.4(SPG11):c.891G>A (p.Leu297=)
|
rs765967405
|
0.00002
|
NM_025137.4(SPG11):c.968A>G (p.Tyr323Cys)
|
rs190718076
|
0.00002
|
NM_025137.4(SPG11):c.1008-20A>G
|
rs767487177
|
0.00001
|
NM_025137.4(SPG11):c.1026A>G (p.Leu342=)
|
rs1008060327
|
0.00001
|
NM_025137.4(SPG11):c.1031C>T (p.Ser344Leu)
|
rs776948550
|
0.00001
|
NM_025137.4(SPG11):c.1045A>G (p.Ile349Val)
|
rs889642538
|
0.00001
|
NM_025137.4(SPG11):c.1080T>C (p.Ala360=)
|
rs775781498
|
0.00001
|
NM_025137.4(SPG11):c.1103A>G (p.His368Arg)
|
rs151226459
|
0.00001
|
NM_025137.4(SPG11):c.114G>A (p.Met38Ile)
|
rs886051185
|
0.00001
|
NM_025137.4(SPG11):c.1179T>C (p.His393=)
|
rs751415874
|
0.00001
|
NM_025137.4(SPG11):c.1207C>T (p.His403Tyr)
|
rs1331463203
|
0.00001
|
NM_025137.4(SPG11):c.1255A>G (p.Ser419Gly)
|
rs747719668
|
0.00001
|
NM_025137.4(SPG11):c.1266G>A (p.Glu422=)
|
rs747797205
|
0.00001
|
NM_025137.4(SPG11):c.126C>G (p.Gly42=)
|
rs769083561
|
0.00001
|
NM_025137.4(SPG11):c.1276G>A (p.Glu426Lys)
|
rs1158245810
|
0.00001
|
NM_025137.4(SPG11):c.130C>T (p.Arg44Trp)
|
rs1304995096
|
0.00001
|
NM_025137.4(SPG11):c.1324G>A (p.Glu442Lys)
|
rs1453401298
|
0.00001
|
NM_025137.4(SPG11):c.1383G>T (p.Gln461His)
|
rs932177370
|
0.00001
|
NM_025137.4(SPG11):c.1393C>T (p.Leu465Phe)
|
rs2084776558
|
0.00001
|
NM_025137.4(SPG11):c.1456+11del
|
rs1176011669
|
0.00001
|
NM_025137.4(SPG11):c.1456+8T>G
|
rs1368557409
|
0.00001
|
NM_025137.4(SPG11):c.1457-14T>C
|
rs747106932
|
0.00001
|
NM_025137.4(SPG11):c.1457-2A>G
|
rs312262726
|
0.00001
|
NM_025137.4(SPG11):c.1492C>T (p.Gln498Ter)
|
rs312262728
|
0.00001
|
NM_025137.4(SPG11):c.150G>C (p.Gln50His)
|
rs745498485
|
0.00001
|
NM_025137.4(SPG11):c.1513C>T (p.Leu505Phe)
|
rs752258108
|
0.00001
|
NM_025137.4(SPG11):c.1526G>A (p.Gly509Glu)
|
rs1418238531
|
0.00001
|
NM_025137.4(SPG11):c.153G>A (p.Pro51=)
|
rs2085183451
|
0.00001
|
NM_025137.4(SPG11):c.1561A>G (p.Asn521Asp)
|
rs770720509
|
0.00001
|
NM_025137.4(SPG11):c.1575G>T (p.Arg525Ser)
|
rs1242845025
|
0.00001
|
NM_025137.4(SPG11):c.1589T>C (p.Ile530Thr)
|
rs779031089
|
0.00001
|
NM_025137.4(SPG11):c.159T>C (p.Ala53=)
|
rs1172849528
|
0.00001
|
NM_025137.4(SPG11):c.15A>T (p.Glu5Asp)
|
rs1444959753
|
0.00001
|
NM_025137.4(SPG11):c.1603-11C>T
|
rs2084149936
|
0.00001
|
NM_025137.4(SPG11):c.1618C>T (p.Arg540Cys)
|
rs758046989
|
0.00001
|
NM_025137.4(SPG11):c.1621C>T (p.Gln541Ter)
|
rs765061840
|
0.00001
|
NM_025137.4(SPG11):c.1632A>G (p.Thr544=)
|
rs368683333
|
0.00001
|
NM_025137.4(SPG11):c.1649A>G (p.Lys550Arg)
|
rs529146881
|
0.00001
|
NM_025137.4(SPG11):c.1667T>G (p.Phe556Cys)
|
rs375399685
|
0.00001
|
NM_025137.4(SPG11):c.1674A>G (p.Pro558=)
|
rs763315402
|
0.00001
|
NM_025137.4(SPG11):c.1681A>G (p.Lys561Glu)
|
rs1189064880
|
0.00001
|
NM_025137.4(SPG11):c.1753C>T (p.Pro585Ser)
|
rs863224795
|
0.00001
|
NM_025137.4(SPG11):c.1759T>G (p.Leu587Val)
|
rs1438765066
|
0.00001
|
NM_025137.4(SPG11):c.1763A>G (p.Asp588Gly)
|
rs763060505
|
0.00001
|
NM_025137.4(SPG11):c.1776G>A (p.Ser592=)
|
rs940988883
|
0.00001
|
NM_025137.4(SPG11):c.1777G>A (p.Ala593Thr)
|
rs971713077
|
0.00001
|
NM_025137.4(SPG11):c.177T>A (p.Ala59=)
|
rs750527049
|
0.00001
|
NM_025137.4(SPG11):c.1780A>G (p.Ile594Val)
|
rs762177930
|
0.00001
|
NM_025137.4(SPG11):c.179C>T (p.Ala60Val)
|
rs2085181882
|
0.00001
|
NM_025137.4(SPG11):c.180G>A (p.Ala60=)
|
rs765387108
|
0.00001
|
NM_025137.4(SPG11):c.1830G>C (p.Leu610Phe)
|
rs1269762029
|
0.00001
|
NM_025137.4(SPG11):c.1831C>T (p.Leu611Phe)
|
rs747979962
|
0.00001
|
NM_025137.4(SPG11):c.1871A>G (p.Glu624Gly)
|
rs1022198629
|
0.00001
|
NM_025137.4(SPG11):c.187C>G (p.Leu63Val)
|
rs754196423
|
0.00001
|
NM_025137.4(SPG11):c.1891+12A>G
|
rs149719736
|
0.00001
|
NM_025137.4(SPG11):c.1891+8T>C
|
rs370785527
|
0.00001
|
NM_025137.4(SPG11):c.191A>G (p.Gln64Arg)
|
rs1231166649
|
0.00001
|
NM_025137.4(SPG11):c.1930A>T (p.Thr644Ser)
|
rs776451921
|
0.00001
|
NM_025137.4(SPG11):c.1988A>G (p.Asp663Gly)
|
rs1369245036
|
0.00001
|
NM_025137.4(SPG11):c.2026A>C (p.Lys676Gln)
|
rs775487537
|
0.00001
|
NM_025137.4(SPG11):c.2027A>G (p.Lys676Arg)
|
rs771884916
|
0.00001
|
NM_025137.4(SPG11):c.2079C>T (p.Ala693=)
|
rs776740393
|
0.00001
|
NM_025137.4(SPG11):c.2129T>C (p.Ile710Thr)
|
rs368686728
|
0.00001
|
NM_025137.4(SPG11):c.2158G>A (p.Glu720Lys)
|
rs752347098
|
0.00001
|
NM_025137.4(SPG11):c.2199A>T (p.Leu733Phe)
|
rs370856739
|
0.00001
|
NM_025137.4(SPG11):c.2200A>G (p.Lys734Glu)
|
rs1381618021
|
0.00001
|
NM_025137.4(SPG11):c.2205G>A (p.Lys735=)
|
rs747102973
|
0.00001
|
NM_025137.4(SPG11):c.2206A>G (p.Asn736Asp)
|
rs775711520
|
0.00001
|
NM_025137.4(SPG11):c.2234T>G (p.Leu745Trp)
|
rs1448574986
|
0.00001
|
NM_025137.4(SPG11):c.2305C>T (p.Arg769Cys)
|
rs758119635
|
0.00001
|
NM_025137.4(SPG11):c.230G>A (p.Arg77His)
|
rs1160672319
|
0.00001
|
NM_025137.4(SPG11):c.2316+1G>A
|
rs312262740
|
0.00001
|
NM_025137.4(SPG11):c.2317G>A (p.Val773Ile)
|
rs766696581
|
0.00001
|
NM_025137.4(SPG11):c.2321A>C (p.Glu774Ala)
|
rs566318835
|
0.00001
|
NM_025137.4(SPG11):c.2376C>T (p.Phe792=)
|
rs769270075
|
0.00001
|
NM_025137.4(SPG11):c.2379G>A (p.Val793=)
|
rs202245950
|
0.00001
|
NM_025137.4(SPG11):c.2445-8G>A
|
rs777673463
|
0.00001
|
NM_025137.4(SPG11):c.2445G>A (p.Arg815=)
|
rs748048928
|
0.00001
|
NM_025137.4(SPG11):c.2470T>C (p.Phe824Leu)
|
rs1157197953
|
0.00001
|
NM_025137.4(SPG11):c.2487T>G (p.Val829=)
|
rs764475601
|
0.00001
|
NM_025137.4(SPG11):c.2493C>T (p.Asp831=)
|
rs753148847
|
0.00001
|
NM_025137.4(SPG11):c.2509G>C (p.Asp837His)
|
rs762708084
|
0.00001
|
NM_025137.4(SPG11):c.250T>C (p.Phe84Leu)
|
rs749011406
|
0.00001
|
NM_025137.4(SPG11):c.2518G>A (p.Asp840Asn)
|
rs769653781
|
0.00001
|
NM_025137.4(SPG11):c.2541T>C (p.His847=)
|
rs1329473950
|
0.00001
|
NM_025137.4(SPG11):c.255G>A (p.Trp85Ter)
|
rs957519261
|
0.00001
|
NM_025137.4(SPG11):c.257+7G>A
|
rs1595944726
|
0.00001
|
NM_025137.4(SPG11):c.2571G>T (p.Trp857Cys)
|
rs200542854
|
0.00001
|
NM_025137.4(SPG11):c.258-19T>C
|
rs891893476
|
0.00001
|
NM_025137.4(SPG11):c.2594T>C (p.Ile865Thr)
|
rs1444447384
|
0.00001
|
NM_025137.4(SPG11):c.2612dup (p.Ser871fs)
|
rs750101275
|
0.00001
|
NM_025137.4(SPG11):c.2616A>G (p.Pro872=)
|
rs905128570
|
0.00001
|
NM_025137.4(SPG11):c.2620+4A>C
|
rs765873301
|
0.00001
|
NM_025137.4(SPG11):c.2620+6T>C
|
rs762381864
|
0.00001
|
NM_025137.4(SPG11):c.2621-4G>A
|
rs1394982559
|
0.00001
|
NM_025137.4(SPG11):c.2621-5T>C
|
rs1331589550
|
0.00001
|
NM_025137.4(SPG11):c.265T>C (p.Trp89Arg)
|
rs767024812
|
0.00001
|
NM_025137.4(SPG11):c.2688T>C (p.Ile896=)
|
rs1243360802
|
0.00001
|
NM_025137.4(SPG11):c.2717A>G (p.Gln906Arg)
|
rs2083706533
|
0.00001
|
NM_025137.4(SPG11):c.2727T>C (p.Tyr909=)
|
rs759432908
|
0.00001
|
NM_025137.4(SPG11):c.2740C>T (p.Gln914Ter)
|
rs761896412
|
0.00001
|
NM_025137.4(SPG11):c.2765T>C (p.Val922Ala)
|
rs780318629
|
0.00001
|
NM_025137.4(SPG11):c.2774T>C (p.Ile925Thr)
|
rs779573001
|
0.00001
|
NM_025137.4(SPG11):c.2801A>G (p.Tyr934Cys)
|
rs777473151
|
0.00001
|
NM_025137.4(SPG11):c.2807G>A (p.Arg936Lys)
|
rs755774331
|
0.00001
|
NM_025137.4(SPG11):c.2821G>C (p.Asp941His)
|
rs767177124
|
0.00001
|
NM_025137.4(SPG11):c.2835-4A>G
|
rs201830528
|
0.00001
|
NM_025137.4(SPG11):c.2894G>C (p.Ser965Thr)
|
rs1329747068
|
0.00001
|
NM_025137.4(SPG11):c.2937C>A (p.Asn979Lys)
|
rs141238220
|
0.00001
|
NM_025137.4(SPG11):c.295A>G (p.Thr99Ala)
|
rs2085075688
|
0.00001
|
NM_025137.4(SPG11):c.2966A>G (p.His989Arg)
|
rs752882400
|
0.00001
|
NM_025137.4(SPG11):c.2967T>C (p.His989=)
|
rs767832837
|
0.00001
|
NM_025137.4(SPG11):c.2973A>G (p.Gln991=)
|
rs372308185
|
0.00001
|
NM_025137.4(SPG11):c.2991G>A (p.Leu997=)
|
rs200122358
|
0.00001
|
NM_025137.4(SPG11):c.3019G>A (p.Val1007Ile)
|
rs2083566874
|
0.00001
|
NM_025137.4(SPG11):c.3038+20T>C
|
rs371520578
|
0.00001
|
NM_025137.4(SPG11):c.3039-5T>G
|
rs763224175
|
0.00001
|
NM_025137.4(SPG11):c.304C>T (p.Pro102Ser)
|
rs758322703
|
0.00001
|
NM_025137.4(SPG11):c.3064T>C (p.Leu1022=)
|
rs1434992344
|
0.00001
|
NM_025137.4(SPG11):c.3121C>T (p.Arg1041Ter)
|
rs771813705
|
0.00001
|
NM_025137.4(SPG11):c.3122G>A (p.Arg1041Gln)
|
rs746703646
|
0.00001
|
NM_025137.4(SPG11):c.3134G>A (p.Ser1045Asn)
|
rs749192217
|
0.00001
|
NM_025137.4(SPG11):c.3195T>C (p.Ile1065=)
|
rs757632864
|
0.00001
|
NM_025137.4(SPG11):c.3213T>G (p.Ser1071Arg)
|
rs145195036
|
0.00001
|
NM_025137.4(SPG11):c.3221G>C (p.Ser1074Thr)
|
rs758982525
|
0.00001
|
NM_025137.4(SPG11):c.3225G>T (p.Met1075Ile)
|
rs1204053852
|
0.00001
|
NM_025137.4(SPG11):c.3265A>G (p.Met1089Val)
|
rs766016524
|
0.00001
|
NM_025137.4(SPG11):c.3266T>C (p.Met1089Thr)
|
rs1291491649
|
0.00001
|
NM_025137.4(SPG11):c.3280G>T (p.Gly1094Cys)
|
rs1349552147
|
0.00001
|
NM_025137.4(SPG11):c.3291+3A>G
|
rs773192977
|
0.00001
|
NM_025137.4(SPG11):c.3292-17T>C
|
rs1284535585
|
0.00001
|
NM_025137.4(SPG11):c.3292-6dup
|
rs777377848
|
0.00001
|
NM_025137.4(SPG11):c.32C>T (p.Ala11Val)
|
rs911245988
|
0.00001
|
NM_025137.4(SPG11):c.3331G>A (p.Val1111Met)
|
rs1291873470
|
0.00001
|
NM_025137.4(SPG11):c.3346T>C (p.Leu1116=)
|
rs776626926
|
0.00001
|
NM_025137.4(SPG11):c.336A>C (p.Glu112Asp)
|
rs1488126503
|
0.00001
|
NM_025137.4(SPG11):c.3399G>A (p.Gln1133=)
|
rs1051475016
|
0.00001
|
NM_025137.4(SPG11):c.3403A>T (p.Thr1135Ser)
|
rs1404221624
|
0.00001
|
NM_025137.4(SPG11):c.3412A>G (p.Ser1138Gly)
|
rs377351819
|
0.00001
|
NM_025137.4(SPG11):c.3417C>G (p.Val1139=)
|
rs1595875823
|
0.00001
|
NM_025137.4(SPG11):c.3453+14G>A
|
rs932516786
|
0.00001
|
NM_025137.4(SPG11):c.3453+5A>G
|
rs983973496
|
0.00001
|
NM_025137.4(SPG11):c.3454-9C>G
|
rs769084328
|
0.00001
|
NM_025137.4(SPG11):c.3505A>G (p.Thr1169Ala)
|
rs760533714
|
0.00001
|
NM_025137.4(SPG11):c.3510del (p.Ala1171fs)
|
rs1363959441
|
0.00001
|
NM_025137.4(SPG11):c.3521-20T>C
|
rs1257238224
|
0.00001
|
NM_025137.4(SPG11):c.3521-9T>C
|
rs1395728939
|
0.00001
|
NM_025137.4(SPG11):c.3525A>G (p.Ala1175=)
|
rs1432782468
|
0.00001
|
NM_025137.4(SPG11):c.3538C>A (p.Pro1180Thr)
|
rs747910594
|
0.00001
|
NM_025137.4(SPG11):c.3546C>T (p.Phe1182=)
|
rs780928415
|
0.00001
|
NM_025137.4(SPG11):c.3573T>C (p.Tyr1191=)
|
rs1033114266
|
0.00001
|
NM_025137.4(SPG11):c.3586C>T (p.Arg1196Cys)
|
rs767936997
|
0.00001
|
NM_025137.4(SPG11):c.3587G>A (p.Arg1196His)
|
rs373641013
|
0.00001
|
NM_025137.4(SPG11):c.3616G>A (p.Gly1206Arg)
|
rs1291602088
|
0.00001
|
NM_025137.4(SPG11):c.3620G>A (p.Arg1207Gln)
|
rs768433207
|
0.00001
|
NM_025137.4(SPG11):c.3663C>A (p.Ile1221=)
|
rs1388337783
|
0.00001
|
NM_025137.4(SPG11):c.3680A>G (p.Lys1227Arg)
|
rs767920399
|
0.00001
|
NM_025137.4(SPG11):c.3684G>A (p.Gln1228=)
|
rs759965980
|
0.00001
|
NM_025137.4(SPG11):c.3687_3688insC (p.Ile1230fs)
|
rs1459810136
|
0.00001
|
NM_025137.4(SPG11):c.3692A>G (p.Gln1231Arg)
|
rs374647717
|
0.00001
|
NM_025137.4(SPG11):c.3710C>T (p.Ala1237Val)
|
rs752883289
|
0.00001
|
NM_025137.4(SPG11):c.3713A>G (p.Tyr1238Cys)
|
rs150720530
|
0.00001
|
NM_025137.4(SPG11):c.3719T>C (p.Ile1240Thr)
|
rs770843397
|
0.00001
|
NM_025137.4(SPG11):c.3778T>C (p.Leu1260=)
|
rs776154524
|
0.00001
|
NM_025137.4(SPG11):c.3803T>C (p.Leu1268Pro)
|
rs1036205200
|
0.00001
|
NM_025137.4(SPG11):c.3823G>C (p.Ala1275Pro)
|
rs1312391984
|
0.00001
|
NM_025137.4(SPG11):c.3851G>A (p.Arg1284Lys)
|
rs748208459
|
0.00001
|
NM_025137.4(SPG11):c.3884A>G (p.Glu1295Gly)
|
rs747199399
|
0.00001
|
NM_025137.4(SPG11):c.3892+5A>C
|
rs758774049
|
0.00001
|
NM_025137.4(SPG11):c.3893-3C>T
|
rs958984875
|
0.00001
|
NM_025137.4(SPG11):c.3893-5T>C
|
rs772297517
|
0.00001
|
NM_025137.4(SPG11):c.3893C>T (p.Ala1298Val)
|
rs768718170
|
0.00001
|
NM_025137.4(SPG11):c.3969A>G (p.Thr1323=)
|
rs1188260876
|
0.00001
|
NM_025137.4(SPG11):c.39C>T (p.Ala13=)
|
rs759646328
|
0.00001
|
NM_025137.4(SPG11):c.4001+13C>G
|
rs925091439
|
0.00001
|
NM_025137.4(SPG11):c.4002G>C (p.Arg1334Ser)
|
rs1085307814
|
0.00001
|
NM_025137.4(SPG11):c.4032A>G (p.Ala1344=)
|
rs777961845
|
0.00001
|
NM_025137.4(SPG11):c.4069C>T (p.Leu1357=)
|
rs2083057421
|
0.00001
|
NM_025137.4(SPG11):c.4075del (p.Ile1359fs)
|
rs1405032433
|
0.00001
|
NM_025137.4(SPG11):c.4085T>C (p.Leu1362Pro)
|
rs757078269
|
0.00001
|
NM_025137.4(SPG11):c.4107T>A (p.Asn1369Lys)
|
rs200700774
|
0.00001
|
NM_025137.4(SPG11):c.4109del (p.Asp1370fs)
|
rs1259332141
|
0.00001
|
NM_025137.4(SPG11):c.4116G>A (p.Leu1372=)
|
rs763115113
|
0.00001
|
NM_025137.4(SPG11):c.4145A>G (p.Asn1382Ser)
|
rs544040175
|
0.00001
|
NM_025137.4(SPG11):c.4148A>G (p.Tyr1383Cys)
|
rs1020900055
|
0.00001
|
NM_025137.4(SPG11):c.4161+8A>G
|
rs757993224
|
0.00001
|
NM_025137.4(SPG11):c.423C>T (p.Leu141=)
|
rs769960206
|
0.00001
|
NM_025137.4(SPG11):c.429C>T (p.Asp143=)
|
rs569364105
|
0.00001
|
NM_025137.4(SPG11):c.4371G>C (p.Trp1457Cys)
|
rs886819382
|
0.00001
|
NM_025137.4(SPG11):c.4378G>A (p.Val1460Ile)
|
rs765071316
|
0.00001
|
NM_025137.4(SPG11):c.4405A>G (p.Ile1469Val)
|
rs767802753
|
0.00001
|
NM_025137.4(SPG11):c.4435-20T>C
|
rs775474229
|
0.00001
|
NM_025137.4(SPG11):c.4498A>G (p.Thr1500Ala)
|
rs758867131
|
0.00001
|
NM_025137.4(SPG11):c.4512A>T (p.Gly1504=)
|
rs539384073
|
0.00001
|
NM_025137.4(SPG11):c.4539T>C (p.His1513=)
|
rs763700515
|
0.00001
|
NM_025137.4(SPG11):c.4548C>G (p.Asn1516Lys)
|
rs759489082
|
0.00001
|
NM_025137.4(SPG11):c.454T>C (p.Leu152=)
|
rs762866477
|
0.00001
|
NM_025137.4(SPG11):c.4561T>C (p.Ser1521Pro)
|
rs748236366
|
0.00001
|
NM_025137.4(SPG11):c.4590A>G (p.Arg1530=)
|
rs1470921765
|
0.00001
|
NM_025137.4(SPG11):c.4617T>C (p.Gly1539=)
|
rs1227955161
|
0.00001
|
NM_025137.4(SPG11):c.4635+17C>T
|
rs1328371346
|
0.00001
|
NM_025137.4(SPG11):c.4667A>G (p.Tyr1556Cys)
|
rs1374442173
|
0.00001
|
NM_025137.4(SPG11):c.4674G>C (p.Leu1558=)
|
rs376125033
|
0.00001
|
NM_025137.4(SPG11):c.4695T>C (p.Tyr1565=)
|
rs369641994
|
0.00001
|
NM_025137.4(SPG11):c.4698A>G (p.Lys1566=)
|
rs1274205803
|
0.00001
|
NM_025137.4(SPG11):c.4702G>A (p.Ala1568Thr)
|
rs767343843
|
0.00001
|
NM_025137.4(SPG11):c.4739A>G (p.Glu1580Gly)
|
rs1035956118
|
0.00001
|
NM_025137.4(SPG11):c.4742C>T (p.Thr1581Met)
|
rs766297012
|
0.00001
|
NM_025137.4(SPG11):c.4743G>A (p.Thr1581=)
|
rs762755586
|
0.00001
|
NM_025137.4(SPG11):c.4744-7T>C
|
rs1179242305
|
0.00001
|
NM_025137.4(SPG11):c.4750A>G (p.Thr1584Ala)
|
rs1595851014
|
0.00001
|
NM_025137.4(SPG11):c.4753G>T (p.Ala1585Ser)
|
rs1567143067
|
0.00001
|
NM_025137.4(SPG11):c.4757C>G (p.Ala1586Gly)
|
rs1332100392
|
0.00001
|
NM_025137.4(SPG11):c.4786A>G (p.Met1596Val)
|
rs1316107379
|
0.00001
|
NM_025137.4(SPG11):c.4790G>A (p.Trp1597Ter)
|
rs753920931
|
0.00001
|
NM_025137.4(SPG11):c.4801C>G (p.Gln1601Glu)
|
rs764442362
|
0.00001
|
NM_025137.4(SPG11):c.4822C>T (p.Leu1608Phe)
|
rs1205123910
|
0.00001
|
NM_025137.4(SPG11):c.4827G>A (p.Met1609Ile)
|
rs1208218561
|
0.00001
|
NM_025137.4(SPG11):c.4877T>G (p.Phe1626Cys)
|
rs553905886
|
0.00001
|
NM_025137.4(SPG11):c.4888G>T (p.Glu1630Ter)
|
rs368276916
|
0.00001
|
NM_025137.4(SPG11):c.4899C>T (p.Phe1633=)
|
rs375726465
|
0.00001
|
NM_025137.4(SPG11):c.4906+9A>G
|
rs756226746
|
0.00001
|
NM_025137.4(SPG11):c.4910C>A (p.Pro1637Gln)
|
rs755996252
|
0.00001
|
NM_025137.4(SPG11):c.4917G>A (p.Val1639=)
|
rs1452851829
|
0.00001
|
NM_025137.4(SPG11):c.4933C>T (p.Leu1645Phe)
|
rs147735958
|
0.00001
|
NM_025137.4(SPG11):c.4939C>T (p.Gln1647Ter)
|
rs959026057
|
0.00001
|
NM_025137.4(SPG11):c.4950G>T (p.Lys1650Asn)
|
rs764587462
|
0.00001
|
NM_025137.4(SPG11):c.496C>G (p.Leu166Val)
|
rs372037097
|
0.00001
|
NM_025137.4(SPG11):c.4970A>G (p.Asn1657Ser)
|
rs376207036
|
0.00001
|
NM_025137.4(SPG11):c.4992C>T (p.Tyr1664=)
|
rs933291966
|
0.00001
|
NM_025137.4(SPG11):c.5019T>C (p.Cys1673=)
|
rs770619204
|
0.00001
|
NM_025137.4(SPG11):c.5043G>A (p.Gln1681=)
|
rs1595845600
|
0.00001
|
NM_025137.4(SPG11):c.5058C>T (p.Phe1686=)
|
rs1435099458
|
0.00001
|
NM_025137.4(SPG11):c.5059G>A (p.Ala1687Thr)
|
rs779161014
|
0.00001
|
NM_025137.4(SPG11):c.5077G>A (p.Ala1693Thr)
|
rs753244084
|
0.00001
|
NM_025137.4(SPG11):c.5081A>T (p.Glu1694Val)
|
rs2082747020
|
0.00001
|
NM_025137.4(SPG11):c.5082A>G (p.Glu1694=)
|
rs914692956
|
0.00001
|
NM_025137.4(SPG11):c.5094A>G (p.Leu1698=)
|
rs759063821
|
0.00001
|
NM_025137.4(SPG11):c.5113A>G (p.Ile1705Val)
|
rs959255565
|
0.00001
|
NM_025137.4(SPG11):c.5121+18T>C
|
rs756471507
|
0.00001
|
NM_025137.4(SPG11):c.5127A>G (p.Thr1709=)
|
rs1393655599
|
0.00001
|
NM_025137.4(SPG11):c.5151C>T (p.His1717=)
|
rs1157164793
|
0.00001
|
NM_025137.4(SPG11):c.5156A>G (p.Glu1719Gly)
|
rs769858527
|
0.00001
|
NM_025137.4(SPG11):c.5158C>T (p.Gln1720Ter)
|
rs1060501173
|
0.00001
|
NM_025137.4(SPG11):c.5189T>G (p.Phe1730Cys)
|
rs755382678
|
0.00001
|
NM_025137.4(SPG11):c.519C>T (p.Ile173=)
|
rs777235892
|
0.00001
|
NM_025137.4(SPG11):c.522A>G (p.Leu174=)
|
rs769257325
|
0.00001
|
NM_025137.4(SPG11):c.5286C>T (p.His1762=)
|
rs769919296
|
0.00001
|
NM_025137.4(SPG11):c.5303G>C (p.Ser1768Thr)
|
rs1006117026
|
0.00001
|
NM_025137.4(SPG11):c.5306T>C (p.Met1769Thr)
|
rs748258958
|
0.00001
|
NM_025137.4(SPG11):c.5322del (p.Leu1775fs)
|
rs2082714895
|
0.00001
|
NM_025137.4(SPG11):c.536C>A (p.Pro179His)
|
rs144167846
|
0.00001
|
NM_025137.4(SPG11):c.5388G>A (p.Glu1796=)
|
rs917858944
|
0.00001
|
NM_025137.4(SPG11):c.5392G>A (p.Glu1798Lys)
|
rs201254271
|
0.00001
|
NM_025137.4(SPG11):c.5434G>C (p.Gly1812Arg)
|
rs1309027007
|
0.00001
|
NM_025137.4(SPG11):c.5470C>T (p.Arg1824Ter)
|
rs312262767
|
0.00001
|
NM_025137.4(SPG11):c.5489G>A (p.Gly1830Asp)
|
rs529748787
|
0.00001
|
NM_025137.4(SPG11):c.5510T>G (p.Leu1837Ter)
|
rs2082710048
|
0.00001
|
NM_025137.4(SPG11):c.5564T>C (p.Leu1855Ser)
|
rs138009927
|
0.00001
|
NM_025137.4(SPG11):c.5595A>G (p.Thr1865=)
|
rs375403626
|
0.00001
|
NM_025137.4(SPG11):c.5598C>T (p.Cys1866=)
|
rs570599267
|
0.00001
|
NM_025137.4(SPG11):c.561A>G (p.Val187=)
|
rs1177000583
|
0.00001
|
NM_025137.4(SPG11):c.5648G>A (p.Gly1883Glu)
|
rs1298405606
|
0.00001
|
NM_025137.4(SPG11):c.5669G>A (p.Cys1890Tyr)
|
rs770861439
|
0.00001
|
NM_025137.4(SPG11):c.566A>G (p.Asn189Ser)
|
rs752834137
|
0.00001
|
NM_025137.4(SPG11):c.5671G>A (p.Val1891Met)
|
rs1483911645
|
0.00001
|
NM_025137.4(SPG11):c.5688A>C (p.Arg1896Ser)
|
rs2082706047
|
0.00001
|
NM_025137.4(SPG11):c.568T>C (p.Cys190Arg)
|
rs767712066
|
0.00001
|
NM_025137.4(SPG11):c.5691A>G (p.Val1897=)
|
rs150077116
|
0.00001
|
NM_025137.4(SPG11):c.5703T>C (p.Phe1901=)
|
rs1400427975
|
0.00001
|
NM_025137.4(SPG11):c.5720A>G (p.Asp1907Gly)
|
rs1158214037
|
0.00001
|
NM_025137.4(SPG11):c.5741G>T (p.Cys1914Phe)
|
rs752725391
|
0.00001
|
NM_025137.4(SPG11):c.5757_5758del (p.Glu1921fs)
|
rs771558571
|
0.00001
|
NM_025137.4(SPG11):c.5772_5781dup (p.His1928fs)
|
rs779321661
|
0.00001
|
NM_025137.4(SPG11):c.5786C>G (p.Pro1929Arg)
|
rs375020581
|
0.00001
|
NM_025137.4(SPG11):c.5811T>C (p.Ser1937=)
|
rs775073827
|
0.00001
|
NM_025137.4(SPG11):c.5818C>T (p.Leu1940=)
|
rs745716037
|
0.00001
|
NM_025137.4(SPG11):c.581C>T (p.Pro194Leu)
|
rs573482671
|
0.00001
|
NM_025137.4(SPG11):c.5838C>T (p.Pro1946=)
|
rs755068950
|
0.00001
|
NM_025137.4(SPG11):c.5841C>G (p.Asp1947Glu)
|
rs372380495
|
0.00001
|
NM_025137.4(SPG11):c.5848C>T (p.Leu1950=)
|
rs758810317
|
0.00001
|
NM_025137.4(SPG11):c.5860C>T (p.His1954Tyr)
|
rs368382627
|
0.00001
|
NM_025137.4(SPG11):c.5866+1G>A
|
rs765725393
|
0.00001
|
NM_025137.4(SPG11):c.5920G>T (p.Val1974Leu)
|
rs770707105
|
0.00001
|
NM_025137.4(SPG11):c.5925_5934dup (p.Val1979Ter)
|
rs749652788
|
0.00001
|
NM_025137.4(SPG11):c.5947A>C (p.Lys1983Gln)
|
rs1198502086
|
0.00001
|
NM_025137.4(SPG11):c.5974C>T (p.Arg1992Ter)
|
rs200793464
|
0.00001
|
NM_025137.4(SPG11):c.5975G>A (p.Arg1992Gln)
|
rs141262934
|
0.00001
|
NM_025137.4(SPG11):c.5986dup (p.Cys1996fs)
|
rs312262775
|
0.00001
|
NM_025137.4(SPG11):c.5987G>C (p.Cys1996Ser)
|
rs1567132702
|
0.00001
|
NM_025137.4(SPG11):c.5989C>T (p.Leu1997=)
|
rs1471262430
|
0.00001
|
NM_025137.4(SPG11):c.599T>C (p.Val200Ala)
|
rs553484553
|
0.00001
|
NM_025137.4(SPG11):c.6006+15G>T
|
rs1313329508
|
0.00001
|
NM_025137.4(SPG11):c.6009G>T (p.Glu2003Asp)
|
rs954483795
|
0.00001
|
NM_025137.4(SPG11):c.6011T>C (p.Leu2004Ser)
|
rs995829315
|
0.00001
|
NM_025137.4(SPG11):c.6017G>A (p.Cys2006Tyr)
|
rs1179229360
|
0.00001
|
NM_025137.4(SPG11):c.6061C>T (p.Arg2021Trp)
|
rs777943276
|
0.00001
|
NM_025137.4(SPG11):c.6067A>G (p.Ile2023Val)
|
rs981262919
|
0.00001
|
NM_025137.4(SPG11):c.6092G>A (p.Arg2031Gln)
|
rs1365555358
|
0.00001
|
NM_025137.4(SPG11):c.6101G>A (p.Arg2034Gln)
|
rs750101301
|
0.00001
|
NM_025137.4(SPG11):c.612T>C (p.Ile204=)
|
rs906644527
|
0.00001
|
NM_025137.4(SPG11):c.6155T>C (p.Leu2052Pro)
|
rs1430100305
|
0.00001
|
NM_025137.4(SPG11):c.6156C>T (p.Leu2052=)
|
rs752218927
|
0.00001
|
NM_025137.4(SPG11):c.6175C>T (p.Arg2059Trp)
|
rs755438310
|
0.00001
|
NM_025137.4(SPG11):c.6180G>C (p.Glu2060Asp)
|
rs753980126
|
0.00001
|
NM_025137.4(SPG11):c.6205+1G>A
|
rs753650233
|
0.00001
|
NM_025137.4(SPG11):c.6205+8A>G
|
rs763990388
|
0.00001
|
NM_025137.4(SPG11):c.6209A>G (p.His2070Arg)
|
rs202069061
|
0.00001
|
NM_025137.4(SPG11):c.6226C>A (p.Pro2076Thr)
|
rs755953167
|
0.00001
|
NM_025137.4(SPG11):c.6252T>A (p.Leu2084=)
|
rs1231775993
|
0.00001
|
NM_025137.4(SPG11):c.627C>T (p.Cys209=)
|
rs768344320
|
0.00001
|
NM_025137.4(SPG11):c.6326A>G (p.His2109Arg)
|
rs780979118
|
0.00001
|
NM_025137.4(SPG11):c.6339T>G (p.Ser2113=)
|
rs764165583
|
0.00001
|
NM_025137.4(SPG11):c.6343A>G (p.Thr2115Ala)
|
rs2082447213
|
0.00001
|
NM_025137.4(SPG11):c.6344-5C>T
|
rs1243652760
|
0.00001
|
NM_025137.4(SPG11):c.6380C>A (p.Thr2127Asn)
|
rs773909173
|
0.00001
|
NM_025137.4(SPG11):c.6390C>T (p.Cys2130=)
|
rs1391522611
|
0.00001
|
NM_025137.4(SPG11):c.6395T>C (p.Met2132Thr)
|
rs771913148
|
0.00001
|
NM_025137.4(SPG11):c.6397G>A (p.Glu2133Lys)
|
rs2082402813
|
0.00001
|
NM_025137.4(SPG11):c.6406A>G (p.Ile2136Val)
|
rs370189964
|
0.00001
|
NM_025137.4(SPG11):c.6409C>T (p.Arg2137Ter)
|
rs769898852
|
0.00001
|
NM_025137.4(SPG11):c.6423C>T (p.Ala2141=)
|
rs952927034
|
0.00001
|
NM_025137.4(SPG11):c.6428A>C (p.His2143Pro)
|
rs1490278448
|
0.00001
|
NM_025137.4(SPG11):c.6435C>T (p.Leu2145=)
|
rs758895071
|
0.00001
|
NM_025137.4(SPG11):c.6458G>T (p.Ser2153Ile)
|
rs543344637
|
0.00001
|
NM_025137.4(SPG11):c.6468T>C (p.Tyr2156=)
|
rs146240471
|
0.00001
|
NM_025137.4(SPG11):c.6470G>A (p.Gly2157Glu)
|
rs1437823754
|
0.00001
|
NM_025137.4(SPG11):c.6477+8G>A
|
rs1271281447
|
0.00001
|
NM_025137.4(SPG11):c.650G>A (p.Ser217Asn)
|
rs1037956688
|
0.00001
|
NM_025137.4(SPG11):c.6511G>A (p.Glu2171Lys)
|
rs1051526194
|
0.00001
|
NM_025137.4(SPG11):c.6526T>C (p.Phe2176Leu)
|
rs752165478
|
0.00001
|
NM_025137.4(SPG11):c.6559G>A (p.Val2187Met)
|
rs2082372397
|
0.00001
|
NM_025137.4(SPG11):c.6577T>G (p.Leu2193Val)
|
rs772999696
|
0.00001
|
NM_025137.4(SPG11):c.6584C>T (p.Pro2195Leu)
|
rs765217079
|
0.00001
|
NM_025137.4(SPG11):c.6585+7G>A
|
rs1060504157
|
0.00001
|
NM_025137.4(SPG11):c.6586-5G>A
|
rs2082337023
|
0.00001
|
NM_025137.4(SPG11):c.6626G>A (p.Arg2209His)
|
rs576265832
|
0.00001
|
NM_025137.4(SPG11):c.6628T>C (p.Cys2210Arg)
|
rs761830487
|
0.00001
|
NM_025137.4(SPG11):c.6631C>T (p.Arg2211Cys)
|
rs148260507
|
0.00001
|
NM_025137.4(SPG11):c.6660G>A (p.Met2220Ile)
|
rs763092541
|
0.00001
|
NM_025137.4(SPG11):c.6669G>A (p.Leu2223=)
|
rs1034401019
|
0.00001
|
NM_025137.4(SPG11):c.6672C>T (p.Cys2224=)
|
rs770198283
|
0.00001
|
NM_025137.4(SPG11):c.6678C>T (p.Ser2226=)
|
rs1193369646
|
0.00001
|
NM_025137.4(SPG11):c.668-5A>G
|
rs1177386932
|
0.00001
|
NM_025137.4(SPG11):c.6685C>T (p.Arg2229Trp)
|
rs751245734
|
0.00001
|
NM_025137.4(SPG11):c.6696C>T (p.Gly2232=)
|
rs758000490
|
0.00001
|
NM_025137.4(SPG11):c.6697G>A (p.Glu2233Lys)
|
rs373587870
|
0.00001
|
NM_025137.4(SPG11):c.6707A>T (p.Glu2236Val)
|
rs1428941848
|
0.00001
|
NM_025137.4(SPG11):c.6712G>A (p.Ala2238Thr)
|
rs35504505
|
0.00001
|
NM_025137.4(SPG11):c.6718C>T (p.Arg2240Cys)
|
rs146937747
|
0.00001
|
NM_025137.4(SPG11):c.6724C>T (p.Gln2242Ter)
|
rs866400911
|
0.00001
|
NM_025137.4(SPG11):c.6726A>G (p.Gln2242=)
|
rs376245210
|
0.00001
|
NM_025137.4(SPG11):c.6755-13A>G
|
rs762051999
|
0.00001
|
NM_025137.4(SPG11):c.6755-17C>T
|
rs1595817791
|
0.00001
|
NM_025137.4(SPG11):c.6790C>G (p.Leu2264Val)
|
rs1264367885
|
0.00001
|
NM_025137.4(SPG11):c.6805C>T (p.Leu2269=)
|
rs781036043
|
0.00001
|
NM_025137.4(SPG11):c.6814A>T (p.Met2272Leu)
|
rs1186136891
|
0.00001
|
NM_025137.4(SPG11):c.6819G>A (p.Leu2273=)
|
rs1015873288
|
0.00001
|
NM_025137.4(SPG11):c.6843+7C>T
|
rs1322942539
|
0.00001
|
NM_025137.4(SPG11):c.6856C>T (p.Arg2286Ter)
|
rs312262785
|
0.00001
|
NM_025137.4(SPG11):c.6866A>G (p.Gln2289Arg)
|
rs140563925
|
0.00001
|
NM_025137.4(SPG11):c.6871T>C (p.Cys2291Arg)
|
rs772796744
|
0.00001
|
NM_025137.4(SPG11):c.6881T>C (p.Leu2294Pro)
|
rs1275110844
|
0.00001
|
NM_025137.4(SPG11):c.6893T>C (p.Ile2298Thr)
|
rs1452765602
|
0.00001
|
NM_025137.4(SPG11):c.6899T>C (p.Leu2300Pro)
|
rs371334506
|
0.00001
|
NM_025137.4(SPG11):c.6907C>G (p.His2303Asp)
|
rs777915558
|
0.00001
|
NM_025137.4(SPG11):c.6908A>T (p.His2303Leu)
|
rs1350164343
|
0.00001
|
NM_025137.4(SPG11):c.6921T>C (p.Thr2307=)
|
rs1460874304
|
0.00001
|
NM_025137.4(SPG11):c.6939C>T (p.Leu2313=)
|
rs1298022335
|
0.00001
|
NM_025137.4(SPG11):c.695A>G (p.Tyr232Cys)
|
rs375915115
|
0.00001
|
NM_025137.4(SPG11):c.6989G>A (p.Arg2330Gln)
|
rs142339015
|
0.00001
|
NM_025137.4(SPG11):c.699A>T (p.Val233=)
|
rs1416160421
|
0.00001
|
NM_025137.4(SPG11):c.7035A>T (p.Pro2345=)
|
rs776878909
|
0.00001
|
NM_025137.4(SPG11):c.703C>T (p.His235Tyr)
|
rs148934301
|
0.00001
|
NM_025137.4(SPG11):c.7050T>C (p.Ile2350=)
|
rs758862344
|
0.00001
|
NM_025137.4(SPG11):c.7054T>C (p.Tyr2352His)
|
rs149711747
|
0.00001
|
NM_025137.4(SPG11):c.7115T>A (p.Leu2372Ter)
|
rs762984907
|
0.00001
|
NM_025137.4(SPG11):c.7137A>G (p.Glu2379=)
|
rs1398977843
|
0.00001
|
NM_025137.4(SPG11):c.7138G>T (p.Glu2380Ter)
|
rs369467143
|
0.00001
|
NM_025137.4(SPG11):c.7151+9T>C
|
rs1301085412
|
0.00001
|
NM_025137.4(SPG11):c.7152-1G>C
|
rs200079802
|
0.00001
|
NM_025137.4(SPG11):c.7152-8T>G
|
rs1281133135
|
0.00001
|
NM_025137.4(SPG11):c.7155T>C (p.Tyr2385=)
|
rs778305085
|
0.00001
|
NM_025137.4(SPG11):c.7164T>A (p.His2388Gln)
|
rs1406897126
|
0.00001
|
NM_025137.4(SPG11):c.7166A>G (p.Gln2389Arg)
|
rs1321393268
|
0.00001
|
NM_025137.4(SPG11):c.716C>T (p.Ala239Val)
|
rs764680914
|
0.00001
|
NM_025137.4(SPG11):c.7172C>T (p.Thr2391Ile)
|
rs375508694
|
0.00001
|
NM_025137.4(SPG11):c.7184T>C (p.Met2395Thr)
|
rs754598618
|
0.00001
|
NM_025137.4(SPG11):c.7222G>A (p.Val2408Ile)
|
rs767553029
|
0.00001
|
NM_025137.4(SPG11):c.7255_7256dup (p.Phe2420fs)
|
rs532737377
|
0.00001
|
NM_025137.4(SPG11):c.7258T>A (p.Phe2420Ile)
|
rs779900397
|
0.00001
|
NM_025137.4(SPG11):c.7263T>C (p.Tyr2421=)
|
rs758146508
|
0.00001
|
NM_025137.4(SPG11):c.7270G>A (p.Val2424Ile)
|
rs1300000065
|
0.00001
|
NM_025137.4(SPG11):c.7275T>G (p.Asn2425Lys)
|
rs778864726
|
0.00001
|
NM_025137.4(SPG11):c.7317C>T (p.Asp2439=)
|
rs1445433088
|
0.00001
|
NM_025137.4(SPG11):c.7320G>A (p.Met2440Ile)
|
rs566201722
|
0.00001
|
NM_025137.4(SPG11):c.7321C>A (p.Leu2441Ile)
|
rs1313297244
|
0.00001
|
NM_025137.4(SPG11):c.7322T>C (p.Leu2441Pro)
|
rs773503745
|
0.00001
|
NM_025137.4(SPG11):c.7326del (p.Gly2443fs)
|
rs751228307
|
0.00001
|
NM_025137.4(SPG11):c.733A>G (p.Met245Val)
|
rs863224796
|
0.00001
|
NM_025137.4(SPG11):c.757C>T (p.Pro253Ser)
|
rs777515617
|
0.00001
|
NM_025137.4(SPG11):c.764A>C (p.Lys255Thr)
|
rs758601401
|
0.00001
|
NM_025137.4(SPG11):c.77T>C (p.Leu26Pro)
|
rs757155556
|
0.00001
|
NM_025137.4(SPG11):c.783A>G (p.Ser261=)
|
rs757513010
|
0.00001
|
NM_025137.4(SPG11):c.796C>T (p.Gln266Ter)
|
rs1234882277
|
0.00001
|
NM_025137.4(SPG11):c.79C>T (p.Pro27Ser)
|
rs777798718
|
0.00001
|
NM_025137.4(SPG11):c.800A>C (p.Asp267Ala)
|
rs1189328432
|
0.00001
|
NM_025137.4(SPG11):c.805G>A (p.Asp269Asn)
|
rs759231633
|
0.00001
|
NM_025137.4(SPG11):c.80C>T (p.Pro27Leu)
|
rs756011988
|
0.00001
|
NM_025137.4(SPG11):c.811G>A (p.Ala271Thr)
|
rs770722777
|
0.00001
|
NM_025137.4(SPG11):c.828C>A (p.Ser276=)
|
rs780079430
|
0.00001
|
NM_025137.4(SPG11):c.838G>A (p.Ala280Thr)
|
rs757501528
|
0.00001
|
NM_025137.4(SPG11):c.84G>T (p.Met28Ile)
|
rs201316593
|
0.00001
|
NM_025137.4(SPG11):c.865T>A (p.Phe289Ile)
|
rs1316470185
|
0.00001
|
NM_025137.4(SPG11):c.936C>T (p.Gly312=)
|
rs771082349
|
0.00001
|
NM_025137.4(SPG11):c.946G>T (p.Asp316Tyr)
|
rs1040889072
|
0.00001
|
NM_025137.4(SPG11):c.95C>T (p.Pro32Leu)
|
rs368405168
|
0.00001
|
NM_025137.4(SPG11):c.980T>C (p.Leu327Pro)
|
rs201444186
|
0.00001
|
NM_025137.4(SPG11):c.999A>T (p.Gln333His)
|
rs753613456
|
0.00001
|
GRCh37/hg19 15q21.1(chr15:44912388-44925835)x1
|
|
|
NC_000015.10:g.(?_44564537)_(44663657_?)dup
|
|
|
NC_000015.10:g.(?_44570505)_(44575061_?)del
|
|
|
NC_000015.10:g.(?_44570525)_(44570658_?)del
|
|
|
NC_000015.10:g.(?_44570525)_(44575041_?)del
|
|
|
NC_000015.10:g.(?_44572663)_(44575061_?)del
|
|
|
NC_000015.10:g.(?_44572673)_(44575051_?)del
|
|
|
NC_000015.10:g.(?_44572683)_(44575041_?)del
|
|
|
NC_000015.10:g.(?_44585626)_(44589424_?)dup
|
|
|
NC_000015.10:g.(?_44595249)_(44600642_?)del
|
|
|
NC_000015.10:g.(?_44595249)_(44663657_?)del
|
|
|
NC_000015.10:g.(?_44626311)_(44626527_?)del
|
|
|
NC_000015.10:g.(?_44626321)_(44626517_?)del
|
|
|
NC_000015.10:g.(?_44648856)_(44663657_?)del
|
|
|
NC_000015.9:g.(44855500_44856744)_(44858504_44859621)del
|
|
|
NC_000015.9:g.(44861704_44862722)_(44867240_44876011)del
|
|
|
NC_000015.9:g.(44865019_44865744)_(44867240_44876011)dup
|
|
|
NC_000015.9:g.(44876757_44877833)_(44881613_44884528)dup
|
|
|
NC_000015.9:g.(?_44855299)_44955865dup
|
|
|
NC_000015.9:g.(?_44855319)_(44867259_?)dup
|
|
|
NC_000015.9:g.(?_44855319)_(44878413_?)dup
|
|
|
NC_000015.9:g.(?_44855319)_(44952834_?)del
|
|
|
NC_000015.9:g.(?_44862703)_(44862876_?)del
|
|
|
NC_000015.9:g.(?_44862713)_(44867249_?)del
|
|
|
NC_000015.9:g.(?_44865725)_(44867259_?)dup
|
|
|
NC_000015.9:g.(?_44876002)_(44876766_?)del
|
|
|
NC_000015.9:g.(?_44877814)_(44878413_?)del
|
|
|
NC_000015.9:g.(?_44877814)_(44881632_?)dup
|
|
|
NC_000015.9:g.(?_44877814)_(44955845_?)dup
|
|
|
NC_000015.9:g.(?_44877834)_(44881612_?)dup
|
|
|
NC_000015.9:g.(?_44881444)_(44925841_?)dup
|
|
|
NC_000015.9:g.(?_44884509)_(44884656_?)del
|
|
|
NC_000015.9:g.(?_44887437)_(44891054_?)dup
|
|
|
NC_000015.9:g.(?_44887437)_(44892850_?)del
|
|
|
NC_000015.9:g.(?_44888261)_(44892850_?)del
|
|
|
NC_000015.9:g.(?_44890443)_(44890591_?)del
|
|
|
NC_000015.9:g.(?_44898203)_(44907784_?)del
|
|
|
NC_000015.9:g.(?_44912368)_(44925855_?)del
|
|
|
NC_000015.9:g.(?_44918519)_(44921596_?)del
|
|
|
NC_000015.9:g.(?_44941044)_(44944484_?)del
|
|
|
NC_000015.9:g.(?_44941054)_(44944474_?)del
|
|
|
NM_025137.3(SPG11):c.(2244+1_2245-1)_(2620+1_2621-1)del
|
|
|
NM_025137.3(SPG11):c.3145_3146insCA (p.Asp1049Alafs)
|
|
|
NM_025137.3(SPG11):c.5456_5457del (p.Glu1819Alafs)
|
rs312262764
|
|
NM_025137.3(SPG11):c.7151+4_7151+7dup
|
|
|
NM_025137.3(SPG11):c.[2316+5G>A];[6856C>T]
|
|
|
NM_025137.3:c.5898+5493_6509-491del
|
|
|
NM_025137.3:c.5987_5990dupCTCT
|
|
|
NM_025137.3:c.6754+4insTG
|
|
|
NM_025137.4(SPG11):c.1004A>G (p.Asp335Gly)
|
rs2141108002
|
|
NM_025137.4(SPG11):c.1005T>C (p.Asp335=)
|
|
|
NM_025137.4(SPG11):c.1007+11T>C
|
|
|
NM_025137.4(SPG11):c.1007+19_1007+20insCAGAAACTTCCTTTTCTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCGGCGGCAAAGACTGAGACAGCTCCGCTGCCCGCTGAACTCCATCCTCCCGGCGGTCGGGCGGCGGCGGCTGC
|
rs2141107951
|
|
NM_025137.4(SPG11):c.1007+3A>G
|
|
|
NM_025137.4(SPG11):c.1007+56G>C
|
rs114629245
|
|
NM_025137.4(SPG11):c.1007G>A (p.Arg336Lys)
|
rs892937993
|
|
NM_025137.4(SPG11):c.1008-11del
|
|
|
NM_025137.4(SPG11):c.1008-12C>T
|
|
|
NM_025137.4(SPG11):c.1008-18A>G
|
|
|
NM_025137.4(SPG11):c.1008-1G>A
|
rs2141107413
|
|
NM_025137.4(SPG11):c.1008-4C>G
|
|
|
NM_025137.4(SPG11):c.1008-5T>A
|
|
|
NM_025137.4(SPG11):c.1008-5T>G
|
|
|
NM_025137.4(SPG11):c.1008-9del
|
|
|
NM_025137.4(SPG11):c.100C>T (p.Pro34Ser)
|
rs1060501172
|
|
NM_025137.4(SPG11):c.1013G>A (p.Trp338Ter)
|
|
|
NM_025137.4(SPG11):c.1021C>T (p.Gln341Ter)
|
|
|
NM_025137.4(SPG11):c.1024C>T (p.Leu342=)
|
|
|
NM_025137.4(SPG11):c.1028C>T (p.Ser343Leu)
|
rs2084792703
|
|
NM_025137.4(SPG11):c.1029A>G (p.Ser343=)
|
|
|
NM_025137.4(SPG11):c.102C>T (p.Pro34=)
|
|
|
NM_025137.4(SPG11):c.1032_1034del (p.Leu345del)
|
rs1555381612
|
|
NM_025137.4(SPG11):c.1033T>C (p.Leu345=)
|
|
|
NM_025137.4(SPG11):c.1050G>A (p.Lys350=)
|
rs2141107304
|
|
NM_025137.4(SPG11):c.1050_1052del (p.Lys350del)
|
|
|
NM_025137.4(SPG11):c.1055C>G (p.Ser352Cys)
|
rs2141107282
|
|
NM_025137.4(SPG11):c.105C>T (p.Ala35=)
|
rs1595945253
|
|
NM_025137.4(SPG11):c.1061T>G (p.Leu354Arg)
|
|
|
NM_025137.4(SPG11):c.1066G>A (p.Val356Ile)
|
|
|
NM_025137.4(SPG11):c.106G>A (p.Glu36Lys)
|
rs1174925032
|
|
NM_025137.4(SPG11):c.1073G>T (p.Cys358Phe)
|
|
|
NM_025137.4(SPG11):c.1077T>C (p.Cys359=)
|
|
|
NM_025137.4(SPG11):c.107A>G (p.Glu36Gly)
|
rs1219891696
|
|
NM_025137.4(SPG11):c.1081C>T (p.Pro361Ser)
|
rs2084791008
|
|
NM_025137.4(SPG11):c.1083A>G (p.Pro361=)
|
|
|
NM_025137.4(SPG11):c.1089C>T (p.Phe363=)
|
|
|
NM_025137.4(SPG11):c.1090C>T (p.Gln364Ter)
|
rs2141107140
|
|
NM_025137.4(SPG11):c.1097T>G (p.Ile366Ser)
|
rs2084790037
|
|
NM_025137.4(SPG11):c.1111T>C (p.Ser371Pro)
|
|
|
NM_025137.4(SPG11):c.1113A>C (p.Ser371=)
|
|
|
NM_025137.4(SPG11):c.111G>A (p.Ala37=)
|
rs2141138705
|
|
NM_025137.4(SPG11):c.111_150delinsTC (p.Met38fs)
|
rs2141138493
|
|
NM_025137.4(SPG11):c.1121C>A (p.Ser374Tyr)
|
rs144403346
|
|
NM_025137.4(SPG11):c.1124G>A (p.Gly375Asp)
|
rs2141107015
|
|
NM_025137.4(SPG11):c.1124G>T (p.Gly375Val)
|
|
|
NM_025137.4(SPG11):c.1129C>G (p.His377Asp)
|
|
|
NM_025137.4(SPG11):c.1130del (p.His377fs)
|
rs2141106983
|
|
NM_025137.4(SPG11):c.1139G>A (p.Ser380Asn)
|
|
|
NM_025137.4(SPG11):c.1142T>G (p.Val381Gly)
|
rs2084787461
|
|
NM_025137.4(SPG11):c.1142_1143del (p.Val381fs)
|
rs2141106935
|
|
NM_025137.4(SPG11):c.1144C>T (p.Gln382Ter)
|
|
|
NM_025137.4(SPG11):c.1151G>A (p.Trp384Ter)
|
|
|
NM_025137.4(SPG11):c.1152G>A (p.Trp384Ter)
|
rs2084787275
|
|
NM_025137.4(SPG11):c.1152G>C (p.Trp384Cys)
|
|
|
NM_025137.4(SPG11):c.1155C>T (p.Ala385=)
|
|
|
NM_025137.4(SPG11):c.115G>A (p.Gly39Arg)
|
|
|
NM_025137.4(SPG11):c.1160T>C (p.Ile387Thr)
|
|
|
NM_025137.4(SPG11):c.1162C>G (p.Pro388Ala)
|
rs2141106847
|
|
NM_025137.4(SPG11):c.1175T>C (p.Met392Thr)
|
rs2084785700
|
|
NM_025137.4(SPG11):c.1176G>T (p.Met392Ile)
|
|
|
NM_025137.4(SPG11):c.117G>A (p.Gly39=)
|
rs1253131194
|
|
NM_025137.4(SPG11):c.1184A>C (p.Gln395Pro)
|
rs758480359
|
|
NM_025137.4(SPG11):c.1184A>G (p.Gln395Arg)
|
rs758480359
|
|
NM_025137.4(SPG11):c.1185A>G (p.Gln395=)
|
|
|
NM_025137.4(SPG11):c.1189A>T (p.Asn397Tyr)
|
rs2084784763
|
|
NM_025137.4(SPG11):c.118C>T (p.Gln40Ter)
|
rs267607084
|
|
NM_025137.4(SPG11):c.1190A>T (p.Asn397Ile)
|
|
|
NM_025137.4(SPG11):c.1192G>A (p.Val398Ile)
|
|
|
NM_025137.4(SPG11):c.1194T>C (p.Val398=)
|
|
|
NM_025137.4(SPG11):c.1195C>T (p.Leu399=)
|
rs990876732
|
|
NM_025137.4(SPG11):c.1203del (p.Asp402fs)
|
rs312262722
|
|
NM_025137.4(SPG11):c.1222G>A (p.Asp408Asn)
|
rs1410107862
|
|
NM_025137.4(SPG11):c.1225C>T (p.Pro409Ser)
|
|
|
NM_025137.4(SPG11):c.1227A>G (p.Pro409=)
|
rs150909768
|
|
NM_025137.4(SPG11):c.122T>G (p.Leu41Arg)
|
rs1595945198
|
|
NM_025137.4(SPG11):c.1233A>G (p.Arg411=)
|
|
|
NM_025137.4(SPG11):c.1235C>G (p.Ser412Ter)
|
rs312262723
|
|
NM_025137.4(SPG11):c.1236A>T (p.Ser412=)
|
|
|
NM_025137.4(SPG11):c.123C>T (p.Leu41=)
|
rs776992288
|
|
NM_025137.4(SPG11):c.1254C>T (p.Ile418=)
|
rs2141106482
|
|
NM_025137.4(SPG11):c.1256G>A (p.Ser419Asn)
|
rs2084781481
|
|
NM_025137.4(SPG11):c.1261C>T (p.Gln421Ter)
|
|
|
NM_025137.4(SPG11):c.1275A>G (p.Ile425Met)
|
rs978081175
|
|
NM_025137.4(SPG11):c.1275dup (p.Glu426fs)
|
rs2141106403
|
|
NM_025137.4(SPG11):c.1278G>A (p.Glu426=)
|
rs2084780424
|
|
NM_025137.4(SPG11):c.1282A>T (p.Lys428Ter)
|
rs312262724
|
|
NM_025137.4(SPG11):c.1288G>T (p.Val430Leu)
|
rs778937794
|
|
NM_025137.4(SPG11):c.1292C>G (p.Ser431Cys)
|
rs886051183
|
|
NM_025137.4(SPG11):c.1292C>T (p.Ser431Phe)
|
rs886051183
|
|
NM_025137.4(SPG11):c.1293_1294insTT (p.Val432fs)
|
rs2141106328
|
|
NM_025137.4(SPG11):c.1299A>G (p.Thr433=)
|
|
|
NM_025137.4(SPG11):c.12G>A (p.Glu4=)
|
|
|
NM_025137.4(SPG11):c.1302A>G (p.Gly434=)
|
|
|
NM_025137.4(SPG11):c.1308T>C (p.Thr436=)
|
|
|
NM_025137.4(SPG11):c.1311A>T (p.Ala437=)
|
|
|
NM_025137.4(SPG11):c.1312C>T (p.Leu438=)
|
|
|
NM_025137.4(SPG11):c.1313T>C (p.Leu438Pro)
|
|
|
NM_025137.4(SPG11):c.1314G>A (p.Leu438=)
|
|
|
NM_025137.4(SPG11):c.1321T>C (p.Trp441Arg)
|
rs1036385500
|
|
NM_025137.4(SPG11):c.1326dup (p.Val443fs)
|
|
|
NM_025137.4(SPG11):c.1329G>T (p.Val443=)
|
rs2141106230
|
|
NM_025137.4(SPG11):c.132G>A (p.Arg44=)
|
rs2141138590
|
|
NM_025137.4(SPG11):c.132G>C (p.Arg44=)
|
|
|
NM_025137.4(SPG11):c.1331A>G (p.Glu444Gly)
|
|
|
NM_025137.4(SPG11):c.1347_1348inv (p.Ile450Val)
|
|
|
NM_025137.4(SPG11):c.1352C>T (p.Thr451Ile)
|
rs1567190879
|
|
NM_025137.4(SPG11):c.1355T>C (p.Leu452Pro)
|
|
|
NM_025137.4(SPG11):c.1355T>G (p.Leu452Arg)
|
rs776275517
|
|
NM_025137.4(SPG11):c.1368G>A (p.Glu456=)
|
|
|
NM_025137.4(SPG11):c.136C>T (p.Gln46Ter)
|
|
|
NM_025137.4(SPG11):c.1371C>T (p.Thr457=)
|
rs2141106099
|
|
NM_025137.4(SPG11):c.1376G>T (p.Gly459Val)
|
rs1595927055
|
|
NM_025137.4(SPG11):c.1377C>T (p.Gly459=)
|
rs768183449
|
|
NM_025137.4(SPG11):c.1378A>G (p.Met460Val)
|
rs2141106039
|
|
NM_025137.4(SPG11):c.1380G>A (p.Met460Ile)
|
rs1296643524
|
|
NM_025137.4(SPG11):c.1385G>C (p.Cys462Ser)
|
|
|
NM_025137.4(SPG11):c.1393C>A (p.Leu465Ile)
|
rs2084776558
|
|
NM_025137.4(SPG11):c.1395T>C (p.Leu465=)
|
rs2141105955
|
|
NM_025137.4(SPG11):c.13G>A (p.Glu5Lys)
|
rs1247084532
|
|
NM_025137.4(SPG11):c.1400C>T (p.Thr467Ile)
|
|
|
NM_025137.4(SPG11):c.1407T>G (p.Cys469Trp)
|
rs2141105909
|
|
NM_025137.4(SPG11):c.1408A>G (p.Ile470Val)
|
rs2141105901
|
|
NM_025137.4(SPG11):c.1422T>A (p.Ser474Arg)
|
rs2084775958
|
|
NM_025137.4(SPG11):c.1422T>C (p.Ser474=)
|
|
|
NM_025137.4(SPG11):c.142dup (p.Arg48fs)
|
|
|
NM_025137.4(SPG11):c.1431C>T (p.Asp477=)
|
|
|
NM_025137.4(SPG11):c.1432C>T (p.Gln478Ter)
|
rs1226110412
|
|
NM_025137.4(SPG11):c.1435C>A (p.Gln479Lys)
|
rs2141105806
|
|
NM_025137.4(SPG11):c.1435C>T (p.Gln479Ter)
|
rs2141105806
|
|
NM_025137.4(SPG11):c.1440G>T (p.Leu480=)
|
|
|
NM_025137.4(SPG11):c.1440del (p.Cys481fs)
|
|
|
NM_025137.4(SPG11):c.1446T>C (p.Phe482=)
|
|
|
NM_025137.4(SPG11):c.1456+11C>T
|
|
|
NM_025137.4(SPG11):c.1456+14G>C
|
|
|
NM_025137.4(SPG11):c.1456+1G>T
|
|
|
NM_025137.4(SPG11):c.1456+4A>C
|
rs1311330812
|
|
NM_025137.4(SPG11):c.1456+9G>C
|
|
|
NM_025137.4(SPG11):c.1457-13A>G
|
|
|
NM_025137.4(SPG11):c.1457-15T>G
|
|
|
NM_025137.4(SPG11):c.1457-15_1457-14del
|
|
|
NM_025137.4(SPG11):c.1457-18C>G
|
|
|
NM_025137.4(SPG11):c.1457-190del
|
rs35146282
|
|
NM_025137.4(SPG11):c.1457-19A>G
|
|
|
NM_025137.4(SPG11):c.1457-4A>C
|
|
|
NM_025137.4(SPG11):c.1457-7C>A
|
|
|
NM_025137.4(SPG11):c.1467C>G (p.Leu489=)
|
|
|
NM_025137.4(SPG11):c.1469C>G (p.Ser490Cys)
|
rs1384102732
|
|
NM_025137.4(SPG11):c.1471_1472del (p.Leu491fs)
|
rs312262727
|
|
NM_025137.4(SPG11):c.1473G>A (p.Leu491=)
|
rs1595923506
|
|
NM_025137.4(SPG11):c.1478T>A (p.Leu493Ter)
|
|
|
NM_025137.4(SPG11):c.1478_1482del (p.Leu493fs)
|
rs758015273
|
|
NM_025137.4(SPG11):c.1482del (p.Phe494fs)
|
|
|
NM_025137.4(SPG11):c.1494A>C (p.Gln498His)
|
rs760202776
|
|
NM_025137.4(SPG11):c.14A>G (p.Glu5Gly)
|
rs911119510
|
|
NM_025137.4(SPG11):c.1503T>G (p.Phe501Leu)
|
rs1060501175
|
|
NM_025137.4(SPG11):c.150G>A (p.Gln50=)
|
rs745498485
|
|
NM_025137.4(SPG11):c.1521C>T (p.Ile507=)
|
|
|
NM_025137.4(SPG11):c.1528A>C (p.Ser510Arg)
|
rs2084683038
|
|
NM_025137.4(SPG11):c.1529G>A (p.Ser510Asn)
|
rs1408459133
|
|
NM_025137.4(SPG11):c.1535G>A (p.Ser512Asn)
|
rs976041926
|
|
NM_025137.4(SPG11):c.1547C>T (p.Thr516Ile)
|
|
|
NM_025137.4(SPG11):c.1549_1550del (p.Cys518fs)
|
rs312262729
|
|
NM_025137.4(SPG11):c.154G>T (p.Glu52Ter)
|
|
|
NM_025137.4(SPG11):c.1551_1552del (p.Cys518fs)
|
rs312262730
|
|
NM_025137.4(SPG11):c.1558C>T (p.Leu520Phe)
|
rs557277528
|
|
NM_025137.4(SPG11):c.1565G>A (p.Gly522Asp)
|
|
|
NM_025137.4(SPG11):c.1570G>A (p.Gly524Arg)
|
rs1238362916
|
|
NM_025137.4(SPG11):c.1571G>A (p.Gly524Glu)
|
rs773146881
|
|
NM_025137.4(SPG11):c.1572A>G (p.Gly524=)
|
|
|
NM_025137.4(SPG11):c.1578C>T (p.Cys526=)
|
|
|
NM_025137.4(SPG11):c.1580C>G (p.Ser527Ter)
|
|
|
NM_025137.4(SPG11):c.1585C>T (p.Pro529Ser)
|
|
|
NM_025137.4(SPG11):c.1586C>T (p.Pro529Leu)
|
rs964345865
|
|
NM_025137.4(SPG11):c.1588A>G (p.Ile530Val)
|
rs746138256
|
|
NM_025137.4(SPG11):c.158C>T (p.Ala53Val)
|
rs1302243415
|
|
NM_025137.4(SPG11):c.1590A>C (p.Ile530=)
|
|
|
NM_025137.4(SPG11):c.1590del (p.His531fs)
|
|
|
NM_025137.4(SPG11):c.1592A>G (p.His531Arg)
|
rs757589840
|
|
NM_025137.4(SPG11):c.1593dup (p.Ala532fs)
|
rs2141098660
|
|
NM_025137.4(SPG11):c.1596A>C (p.Ala532=)
|
|
|
NM_025137.4(SPG11):c.1599A>G (p.Leu533=)
|
rs2141098634
|
|
NM_025137.4(SPG11):c.1601A>G (p.Glu534Gly)
|
rs778355918
|
|
NM_025137.4(SPG11):c.1602+19C>G
|
|
|
NM_025137.4(SPG11):c.1602+1G>A
|
|
|
NM_025137.4(SPG11):c.1602+20A>C
|
|
|
NM_025137.4(SPG11):c.1602+7_1602+8del
|
|
|
NM_025137.4(SPG11):c.1603-13C>T
|
|
|
NM_025137.4(SPG11):c.1603-1G>C
|
|
|
NM_025137.4(SPG11):c.1603-25_1690del
|
rs2141056788
|
|
NM_025137.4(SPG11):c.1603-309G>C
|
rs116483186
|
|
NM_025137.4(SPG11):c.1603-54dup
|
rs199611470
|
|
NM_025137.4(SPG11):c.1603-5T>C
|
rs2084149728
|
|
NM_025137.4(SPG11):c.1603-8C>A
|
rs756665513
|
|
NM_025137.4(SPG11):c.1603-8C>T
|
|
|
NM_025137.4(SPG11):c.1605C>A (p.Ala535=)
|
|
|
NM_025137.4(SPG11):c.1607G>A (p.Gly536Glu)
|
rs200428589
|
|
NM_025137.4(SPG11):c.1609A>T (p.Ile537Leu)
|
rs2084149306
|
|
NM_025137.4(SPG11):c.160C>T (p.Leu54=)
|
|
|
NM_025137.4(SPG11):c.1611A>G (p.Ile537Met)
|
|
|
NM_025137.4(SPG11):c.1624C>T (p.Leu542=)
|
|
|
NM_025137.4(SPG11):c.162G>A (p.Leu54=)
|
|
|
NM_025137.4(SPG11):c.1636A>C (p.Asn546His)
|
rs1006002015
|
|
NM_025137.4(SPG11):c.1641C>T (p.Phe547=)
|
|
|
NM_025137.4(SPG11):c.1644T>C (p.Phe548=)
|
|
|
NM_025137.4(SPG11):c.1654_1655insGGAAAATCTTTTTTTTTTTTTTTTTTTTTNNNNNNNNGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGGA (p.Ser551_Lys552insArgLysIlePhePhePhePhePhePhePheXaaXaaXaaGlyGluGlyGluGlyGluGlyGluGlyGluGlyGluGlyGluGly)
|
rs2141056921
|
|
NM_025137.4(SPG11):c.1657G>A (p.Glu553Lys)
|
|
|
NM_025137.4(SPG11):c.1667T>C (p.Phe556Ser)
|
rs375399685
|
|
NM_025137.4(SPG11):c.1668_1669insSVAelement
|
|
|
NM_025137.4(SPG11):c.1668del (p.Phe556fs)
|
rs312262731
|
|
NM_025137.4(SPG11):c.1675T>A (p.Ser559Thr)
|
rs773680273
|
|
NM_025137.4(SPG11):c.1677C>T (p.Ser559=)
|
|
|
NM_025137.4(SPG11):c.1679C>G (p.Ser560Ter)
|
rs312262732
|
|
NM_025137.4(SPG11):c.167G>T (p.Ser56Ile)
|
rs1566838366
|
|
NM_025137.4(SPG11):c.1680A>G (p.Ser560=)
|
|
|
NM_025137.4(SPG11):c.1683A>G (p.Lys561=)
|
|
|
NM_025137.4(SPG11):c.168C>T (p.Ser56=)
|
|
|
NM_025137.4(SPG11):c.1696G>A (p.Asp566Asn)
|
rs2084145691
|
|
NM_025137.4(SPG11):c.1697_1710delinsTCATCCCAT (p.Asp566fs)
|
|
|
NM_025137.4(SPG11):c.1697_1711delinsTACTCCCA (p.Asp566fs)
|
rs312262733
|
|
NM_025137.4(SPG11):c.169C>T (p.Leu57=)
|
rs777780299
|
|
NM_025137.4(SPG11):c.1700A>C (p.Gln567Pro)
|
|
|
NM_025137.4(SPG11):c.1707T>C (p.Asp569=)
|
|
|
NM_025137.4(SPG11):c.1710C>G (p.His570Gln)
|
|
|
NM_025137.4(SPG11):c.1710C>T (p.His570=)
|
rs1040331008
|
|
NM_025137.4(SPG11):c.1716A>C (p.Ser572=)
|
|
|
NM_025137.4(SPG11):c.1719C>G (p.Ser573=)
|
|
|
NM_025137.4(SPG11):c.1719C>T (p.Ser573=)
|
|
|
NM_025137.4(SPG11):c.171G>A (p.Leu57=)
|
|
|
NM_025137.4(SPG11):c.1720C>T (p.His574Tyr)
|
|
|
NM_025137.4(SPG11):c.1721A>G (p.His574Arg)
|
rs1555457572
|
|
NM_025137.4(SPG11):c.1725A>G (p.Leu575=)
|
rs1306125865
|
|
NM_025137.4(SPG11):c.1726T>G (p.Tyr576Asp)
|
rs185829887
|
|
NM_025137.4(SPG11):c.1727A>G (p.Tyr576Cys)
|
|
|
NM_025137.4(SPG11):c.1735+15G>A
|
|
|
NM_025137.4(SPG11):c.1735+18T>C
|
|
|
NM_025137.4(SPG11):c.1735+20C>T
|
rs1459986980
|
|
NM_025137.4(SPG11):c.1735+3_1735+6del
|
rs312262734
|
|
NM_025137.4(SPG11):c.1735+4A>G
|
rs2141056546
|
|
NM_025137.4(SPG11):c.1735+9A>G
|
|
|
NM_025137.4(SPG11):c.1736-11T>C
|
|
|
NM_025137.4(SPG11):c.1736-193A>C
|
rs145544135
|
|
NM_025137.4(SPG11):c.1736-756C>T
|
|
|
NM_025137.4(SPG11):c.1736-7T>G
|
|
|
NM_025137.4(SPG11):c.173C>T (p.Thr58Met)
|
rs780151569
|
|
NM_025137.4(SPG11):c.1743A>C (p.Glu581Asp)
|
rs1276367363
|
|
NM_025137.4(SPG11):c.1755A>T (p.Pro585=)
|
rs2141045191
|
|
NM_025137.4(SPG11):c.1758A>G (p.Ala586=)
|
|
|
NM_025137.4(SPG11):c.1758A>T (p.Ala586=)
|
|
|
NM_025137.4(SPG11):c.1772G>T (p.Cys591Phe)
|
|
|
NM_025137.4(SPG11):c.17G>C (p.Gly6Ala)
|
rs1205261164
|
|
NM_025137.4(SPG11):c.1801C>G (p.Pro601Ala)
|
rs775799559
|
|
NM_025137.4(SPG11):c.1801C>T (p.Pro601Ser)
|
rs775799559
|
|
NM_025137.4(SPG11):c.1803C>T (p.Pro601=)
|
|
|
NM_025137.4(SPG11):c.1806A>G (p.Gln602=)
|
|
|
NM_025137.4(SPG11):c.1809C>G (p.Ser603Arg)
|
|
|
NM_025137.4(SPG11):c.180G>T (p.Ala60=)
|
|
|
NM_025137.4(SPG11):c.1813C>A (p.His605Asn)
|
|
|
NM_025137.4(SPG11):c.1818T>C (p.Phe606=)
|
|
|
NM_025137.4(SPG11):c.1818_1819del (p.Ser607fs)
|
rs1220982145
|
|
NM_025137.4(SPG11):c.1819T>G (p.Ser607Ala)
|
rs886051182
|
|
NM_025137.4(SPG11):c.1819_1822delinsAT (p.Ser607fs)
|
|
|
NM_025137.4(SPG11):c.1819del (p.Ser607fs)
|
rs1220982145
|
|
NM_025137.4(SPG11):c.1821A>C (p.Ser607=)
|
|
|
NM_025137.4(SPG11):c.1825C>T (p.Gln609Ter)
|
|
|
NM_025137.4(SPG11):c.1828T>G (p.Leu610Val)
|
|
|
NM_025137.4(SPG11):c.1836T>C (p.Asn612=)
|
rs2083990565
|
|
NM_025137.4(SPG11):c.1837_1838insA (p.Leu613fs)
|
rs312262735
|
|
NM_025137.4(SPG11):c.1841del (p.Thr614fs)
|
|
|
NM_025137.4(SPG11):c.1842A>G (p.Thr614=)
|
|
|
NM_025137.4(SPG11):c.1845_1846del (p.Ser616fs)
|
rs312262736
|
|
NM_025137.4(SPG11):c.1854T>C (p.Leu618=)
|
|
|
NM_025137.4(SPG11):c.1857C>T (p.Asn619=)
|
rs2141044869
|
|
NM_025137.4(SPG11):c.1858A>G (p.Asn620Asp)
|
rs2141044861
|
|
NM_025137.4(SPG11):c.1866A>G (p.Ile622Met)
|
|
|
NM_025137.4(SPG11):c.186C>T (p.Ser62=)
|
|
|
NM_025137.4(SPG11):c.1872G>C (p.Glu624Asp)
|
rs2141044804
|
|
NM_025137.4(SPG11):c.1873C>A (p.Leu625Ile)
|
|
|
NM_025137.4(SPG11):c.1874T>C (p.Leu625Pro)
|
rs1555456940
|
|
NM_025137.4(SPG11):c.1877del (p.Phe626fs)
|
rs2083989142
|
|
NM_025137.4(SPG11):c.1885A>T (p.Thr629Ser)
|
rs2083988991
|
|
NM_025137.4(SPG11):c.1886C>A (p.Thr629Asn)
|
|
|
NM_025137.4(SPG11):c.1886C>T (p.Thr629Ile)
|
|
|
NM_025137.4(SPG11):c.1891+10G>A
|
|
|
NM_025137.4(SPG11):c.1891+14C>G
|
|
|
NM_025137.4(SPG11):c.1891+17G>A
|
|
|
NM_025137.4(SPG11):c.1891+18G>A
|
|
|
NM_025137.4(SPG11):c.1891+1G>T
|
rs532072204
|
|
NM_025137.4(SPG11):c.1891+4A>C
|
rs2141044751
|
|
NM_025137.4(SPG11):c.1891+9A>G
|
|
|
NM_025137.4(SPG11):c.1892-15T>G
|
rs1595898317
|
|
NM_025137.4(SPG11):c.1892-17A>G
|
|
|
NM_025137.4(SPG11):c.1892-4A>G
|
|
|
NM_025137.4(SPG11):c.1892-6C>T
|
|
|
NM_025137.4(SPG11):c.1892A>G (p.Glu631Gly)
|
|
|
NM_025137.4(SPG11):c.1893A>G (p.Glu631=)
|
|
|
NM_025137.4(SPG11):c.1896A>C (p.Leu632=)
|
rs1595898295
|
|
NM_025137.4(SPG11):c.1896A>G (p.Leu632=)
|
rs1595898295
|
|
NM_025137.4(SPG11):c.1902A>G (p.Glu634=)
|
|
|
NM_025137.4(SPG11):c.1906C>G (p.Leu636Val)
|
rs145316065
|
|
NM_025137.4(SPG11):c.1908G>A (p.Leu636=)
|
|
|
NM_025137.4(SPG11):c.1909C>T (p.Gln637Ter)
|
|
|
NM_025137.4(SPG11):c.190C>G (p.Gln64Glu)
|
rs1566838280
|
|
NM_025137.4(SPG11):c.190C>T (p.Gln64Ter)
|
|
|
NM_025137.4(SPG11):c.1910A>C (p.Gln637Pro)
|
rs2083975912
|
|
NM_025137.4(SPG11):c.1913A>G (p.Lys638Arg)
|
rs772835480
|
|
NM_025137.4(SPG11):c.1938C>T (p.Tyr646=)
|
|
|
NM_025137.4(SPG11):c.1939A>C (p.Ile647Leu)
|
rs375256495
|
|
NM_025137.4(SPG11):c.193G>A (p.Val65Met)
|
rs999651004
|
|
NM_025137.4(SPG11):c.1941T>A (p.Ile647=)
|
|
|
NM_025137.4(SPG11):c.194T>G (p.Val65Gly)
|
|
|
NM_025137.4(SPG11):c.1959C>T (p.Phe653=)
|
|
|
NM_025137.4(SPG11):c.1963A>G (p.Ile655Val)
|
|
|
NM_025137.4(SPG11):c.1966_1967del (p.Lys656fs)
|
rs1303294230
|
|
NM_025137.4(SPG11):c.1970T>C (p.Phe657Ser)
|
rs2141043523
|
|
NM_025137.4(SPG11):c.1973C>T (p.Pro658Leu)
|
rs922368462
|
|
NM_025137.4(SPG11):c.1974T>C (p.Pro658=)
|
|
|
NM_025137.4(SPG11):c.1976G>C (p.Trp659Ser)
|
rs2141043511
|
|
NM_025137.4(SPG11):c.1978A>C (p.Lys660Gln)
|
rs2141043505
|
|
NM_025137.4(SPG11):c.1982T>C (p.Leu661Pro)
|
|
|
NM_025137.4(SPG11):c.1989T>A (p.Asp663Glu)
|
rs1321387321
|
|
NM_025137.4(SPG11):c.1992T>C (p.Ala664=)
|
|
|
NM_025137.4(SPG11):c.1999G>T (p.Glu667Ter)
|
|
|
NM_025137.4(SPG11):c.19G>A (p.Val7Ile)
|
rs774670657
|
|
NM_025137.4(SPG11):c.19G>T (p.Val7Phe)
|
rs774670657
|
|
NM_025137.4(SPG11):c.1A>T (p.Met1Leu)
|
rs2085195132
|
|
NM_025137.4(SPG11):c.2001A>G (p.Glu667=)
|
|
|
NM_025137.4(SPG11):c.2007T>C (p.Asp669=)
|
|
|
NM_025137.4(SPG11):c.200C>T (p.Ser67Phe)
|
rs985265616
|
|
NM_025137.4(SPG11):c.2012A>C (p.His671Pro)
|
|
|
NM_025137.4(SPG11):c.2013_2026dup (p.Lys676fs)
|
rs1595898078
|
|
NM_025137.4(SPG11):c.2014G>A (p.Glu672Lys)
|
rs2083972403
|
|
NM_025137.4(SPG11):c.2016A>G (p.Glu672=)
|
|
|
NM_025137.4(SPG11):c.201T>C (p.Ser67=)
|
|
|
NM_025137.4(SPG11):c.2025C>T (p.Pro675=)
|
rs2141043340
|
|
NM_025137.4(SPG11):c.202_203dup (p.Leu68fs)
|
rs773773579
|
|
NM_025137.4(SPG11):c.2032A>G (p.Lys678Glu)
|
rs959317901
|
|
NM_025137.4(SPG11):c.2034G>T (p.Lys678Asn)
|
rs2083971691
|
|
NM_025137.4(SPG11):c.2038_2039dup (p.Ser680fs)
|
rs1595898055
|
|
NM_025137.4(SPG11):c.2039G>C (p.Ser680Thr)
|
|
|
NM_025137.4(SPG11):c.203T>C (p.Leu68Ser)
|
|
|
NM_025137.4(SPG11):c.2048G>A (p.Trp683Ter)
|
rs1595898030
|
|
NM_025137.4(SPG11):c.2052_2055del (p.Lys684fs)
|
|
|
NM_025137.4(SPG11):c.2055A>G (p.Lys685=)
|
|
|
NM_025137.4(SPG11):c.2056C>T (p.Leu686Phe)
|
rs1160045630
|
|
NM_025137.4(SPG11):c.2057T>C (p.Leu686Pro)
|
|
|
NM_025137.4(SPG11):c.2061C>T (p.Ser687=)
|
|
|
NM_025137.4(SPG11):c.2065G>A (p.Glu689Lys)
|
rs2141043236
|
|
NM_025137.4(SPG11):c.2067+11A>C
|
|
|
NM_025137.4(SPG11):c.2067+18_2067+20del
|
|
|
NM_025137.4(SPG11):c.2067+20A>C
|
|
|
NM_025137.4(SPG11):c.2067+5G>A
|
rs2141043201
|
|
NM_025137.4(SPG11):c.2067+7A>G
|
rs1360895808
|
|
NM_025137.4(SPG11):c.2067+8C>G
|
|
|
NM_025137.4(SPG11):c.2067+8C>T
|
rs374214706
|
|
NM_025137.4(SPG11):c.2068-12T>C
|
rs1409759425
|
|
NM_025137.4(SPG11):c.2068-16G>A
|
|
|
NM_025137.4(SPG11):c.2068-17C>G
|
|
|
NM_025137.4(SPG11):c.2068-17C>T
|
|
|
NM_025137.4(SPG11):c.2068-1G>A
|
|
|
NM_025137.4(SPG11):c.2068-2A>T
|
rs1555456457
|
|
NM_025137.4(SPG11):c.2068-5C>T
|
|
|
NM_025137.4(SPG11):c.2068-7T>A
|
|
|
NM_025137.4(SPG11):c.2068-7T>C
|
|
|
NM_025137.4(SPG11):c.2069A>G (p.Glu690Gly)
|
|
|
NM_025137.4(SPG11):c.2073T>G (p.Val691=)
|
|
|
NM_025137.4(SPG11):c.2078C>T (p.Ala693Val)
|
rs1329366922
|
|
NM_025137.4(SPG11):c.2079C>G (p.Ala693=)
|
|
|
NM_025137.4(SPG11):c.2081G>T (p.Ser694Ile)
|
|
|
NM_025137.4(SPG11):c.2086A>T (p.Ile696Phe)
|
|
|
NM_025137.4(SPG11):c.208C>A (p.Pro70Thr)
|
rs886051184
|
|
NM_025137.4(SPG11):c.20T>C (p.Val7Ala)
|
rs771083813
|
|
NM_025137.4(SPG11):c.2114A>G (p.Gln705Arg)
|
rs2141038104
|
|
NM_025137.4(SPG11):c.2115G>A (p.Gln705=)
|
|
|
NM_025137.4(SPG11):c.2116A>T (p.Thr706Ser)
|
|
|
NM_025137.4(SPG11):c.2119T>G (p.Phe707Val)
|
rs2141038096
|
|
NM_025137.4(SPG11):c.2121C>A (p.Phe707Leu)
|
rs1239554492
|
|
NM_025137.4(SPG11):c.2121C>T (p.Phe707=)
|
|
|
NM_025137.4(SPG11):c.2123del (p.Phe708fs)
|
|
|
NM_025137.4(SPG11):c.2125A>C (p.Arg709=)
|
|
|
NM_025137.4(SPG11):c.2127G>A (p.Arg709=)
|
|
|
NM_025137.4(SPG11):c.2128A>G (p.Ile710Val)
|
rs779467011
|
|
NM_025137.4(SPG11):c.213C>T (p.Gly71=)
|
|
|
NM_025137.4(SPG11):c.2143G>T (p.Ala715Ser)
|
rs2083900209
|
|
NM_025137.4(SPG11):c.2146C>T (p.Gln716Ter)
|
rs312262737
|
|
NM_025137.4(SPG11):c.2147A>G (p.Gln716Arg)
|
rs2141037997
|
|
NM_025137.4(SPG11):c.214A>G (p.Ser72Gly)
|
rs2085179994
|
|
NM_025137.4(SPG11):c.2156A>G (p.Glu719Gly)
|
rs2141037979
|
|
NM_025137.4(SPG11):c.2157G>A (p.Glu719=)
|
|
|
NM_025137.4(SPG11):c.2163dup (p.Ile722fs)
|
rs312262738
|
|
NM_025137.4(SPG11):c.2184G>C (p.Leu728Phe)
|
|
|
NM_025137.4(SPG11):c.218_221dup (p.Gly76fs)
|
rs2141138155
|
|
NM_025137.4(SPG11):c.2191G>A (p.Asp731Asn)
|
rs1327322138
|
|
NM_025137.4(SPG11):c.2193C>G (p.Asp731Glu)
|
|
|
NM_025137.4(SPG11):c.2196T>C (p.Asn732=)
|
rs2141037849
|
|
NM_025137.4(SPG11):c.2198T>G (p.Leu733Ter)
|
rs312262739
|
|
NM_025137.4(SPG11):c.2198del (p.Asn732_Leu733insTer)
|
|
|
NM_025137.4(SPG11):c.219G>A (p.Arg73=)
|
|
|
NM_025137.4(SPG11):c.21C>A (p.Val7=)
|
rs377135175
|
|
NM_025137.4(SPG11):c.21C>G (p.Val7=)
|
rs377135175
|
|
NM_025137.4(SPG11):c.21C>T (p.Val7=)
|
rs377135175
|
|
NM_025137.4(SPG11):c.2204A>G (p.Lys735Arg)
|
|
|
NM_025137.4(SPG11):c.2223C>T (p.Ala741=)
|
|
|
NM_025137.4(SPG11):c.2230del (p.Leu744fs)
|
|
|
NM_025137.4(SPG11):c.2233T>C (p.Leu745=)
|
|
|
NM_025137.4(SPG11):c.2238G>A (p.Lys746=)
|
|
|
NM_025137.4(SPG11):c.2244+10G>A
|
rs144314414
|
|
NM_025137.4(SPG11):c.2244+10G>T
|
rs144314414
|
|
NM_025137.4(SPG11):c.2244+215C>A
|
rs149620992
|
|
NM_025137.4(SPG11):c.2244+271dup
|
rs200813714
|
|
NM_025137.4(SPG11):c.2244+5G>A
|
rs1330702477
|
|
NM_025137.4(SPG11):c.2244+8G>A
|
|
|
NM_025137.4(SPG11):c.2245-13A>T
|
|
|
NM_025137.4(SPG11):c.2245-13_2245-12del
|
|
|
NM_025137.4(SPG11):c.2246G>A (p.Gly749Glu)
|
|
|
NM_025137.4(SPG11):c.2247G>A (p.Gly749=)
|
|
|
NM_025137.4(SPG11):c.224G>C (p.Gly75Ala)
|
rs922561928
|
|
NM_025137.4(SPG11):c.224G>T (p.Gly75Val)
|
rs922561928
|
|
NM_025137.4(SPG11):c.2250del (p.Phe750fs)
|
rs2083790483
|
|
NM_025137.4(SPG11):c.2253T>C (p.Asp751=)
|
|
|
NM_025137.4(SPG11):c.2254G>T (p.Val752Leu)
|
rs1277935331
|
|
NM_025137.4(SPG11):c.2255T>G (p.Val752Gly)
|
|
|
NM_025137.4(SPG11):c.225G>A (p.Gly75=)
|
|
|
NM_025137.4(SPG11):c.225G>C (p.Gly75=)
|
|
|
NM_025137.4(SPG11):c.2265del (p.Gln755fs)
|
rs1215058780
|
|
NM_025137.4(SPG11):c.2268G>A (p.Leu756=)
|
rs2083789720
|
|
NM_025137.4(SPG11):c.2278T>C (p.Cys760Arg)
|
|
|
NM_025137.4(SPG11):c.227G>A (p.Gly76Asp)
|
|
|
NM_025137.4(SPG11):c.227del (p.Gly76fs)
|
|
|
NM_025137.4(SPG11):c.2283C>T (p.Phe761=)
|
rs1595891619
|
|
NM_025137.4(SPG11):c.2289A>G (p.Thr763=)
|
rs1555455866
|
|
NM_025137.4(SPG11):c.228T>A (p.Gly76=)
|
|
|
NM_025137.4(SPG11):c.2295T>C (p.Asn765=)
|
rs2141030021
|
|
NM_025137.4(SPG11):c.2304A>G (p.Ile768Met)
|
rs1555455851
|
|
NM_025137.4(SPG11):c.2313T>C (p.Phe771=)
|
|
|
NM_025137.4(SPG11):c.2314T>G (p.Leu772Val)
|
|
|
NM_025137.4(SPG11):c.2316+10G>C
|
|
|
NM_025137.4(SPG11):c.2316+3A>C
|
rs2083787952
|
|
NM_025137.4(SPG11):c.2316+5G>A
|
rs879255274
|
|
NM_025137.4(SPG11):c.2316+63G>T
|
rs117989754
|
|
NM_025137.4(SPG11):c.2317-10T>C
|
|
|
NM_025137.4(SPG11):c.2317-12T>G
|
|
|
NM_025137.4(SPG11):c.2317-14A>T
|
|
|
NM_025137.4(SPG11):c.2317-17_2317-14del
|
|
|
NM_025137.4(SPG11):c.2317-8T>C
|
|
|
NM_025137.4(SPG11):c.2317G>C (p.Val773Leu)
|
rs766696581
|
|
NM_025137.4(SPG11):c.2317G>T (p.Val773Phe)
|
rs766696581
|
|
NM_025137.4(SPG11):c.232T>G (p.Cys78Gly)
|
rs2141138095
|
|
NM_025137.4(SPG11):c.2330A>G (p.Lys777Arg)
|
|
|
NM_025137.4(SPG11):c.2331del (p.Glu778fs)
|
rs863224524
|
|
NM_025137.4(SPG11):c.2332G>A (p.Glu778Lys)
|
rs1231809811
|
|
NM_025137.4(SPG11):c.2336_2339del (p.Lys779fs)
|
rs1454768655
|
|
NM_025137.4(SPG11):c.2339dup (p.Asn780fs)
|
rs1454768655
|
|
NM_025137.4(SPG11):c.233G>T (p.Cys78Phe)
|
|
|
NM_025137.4(SPG11):c.2343T>C (p.Tyr781=)
|
|
|
NM_025137.4(SPG11):c.2348C>T (p.Ser783Phe)
|
|
|
NM_025137.4(SPG11):c.2349T>C (p.Ser783=)
|
|
|
NM_025137.4(SPG11):c.2356G>T (p.Glu786Ter)
|
|
|
NM_025137.4(SPG11):c.2358_2359del (p.Arg788fs)
|
rs312262741
|
|
NM_025137.4(SPG11):c.2362dup (p.Arg788fs)
|
rs2141029118
|
|
NM_025137.4(SPG11):c.2365A>G (p.Thr789Ala)
|
|
|
NM_025137.4(SPG11):c.2370A>C (p.Ile790=)
|
|
|
NM_025137.4(SPG11):c.2373C>T (p.Asp791=)
|
rs1294501977
|
|
NM_025137.4(SPG11):c.2377G>T (p.Val793Leu)
|
rs546601155
|
|
NM_025137.4(SPG11):c.237C>A (p.Cys79Ter)
|
rs1566838168
|
|
NM_025137.4(SPG11):c.2380C>T (p.His794Tyr)
|
|
|
NM_025137.4(SPG11):c.2386G>C (p.Val796Leu)
|
|
|
NM_025137.4(SPG11):c.2387_2388dup (p.Glu797fs)
|
|
|
NM_025137.4(SPG11):c.2392A>G (p.Lys798Glu)
|
|
|
NM_025137.4(SPG11):c.2399del (p.Tyr800fs)
|
|
|
NM_025137.4(SPG11):c.23C>A (p.Ala8Glu)
|
rs200939573
|
|
NM_025137.4(SPG11):c.23C>T (p.Ala8Val)
|
rs200939573
|
|
NM_025137.4(SPG11):c.2400T>C (p.Tyr800=)
|
|
|
NM_025137.4(SPG11):c.240G>A (p.Leu80=)
|
|
|
NM_025137.4(SPG11):c.240G>C (p.Leu80=)
|
|
|
NM_025137.4(SPG11):c.240G>T (p.Leu80=)
|
|
|
NM_025137.4(SPG11):c.2414A>C (p.Gln805Pro)
|
rs2141028960
|
|
NM_025137.4(SPG11):c.2421T>C (p.Asn807=)
|
rs2083774098
|
|
NM_025137.4(SPG11):c.2423T>C (p.Met808Thr)
|
rs1020636809
|
|
NM_025137.4(SPG11):c.242A>G (p.Glu81Gly)
|
rs1555383956
|
|
NM_025137.4(SPG11):c.2436A>C (p.Ser812=)
|
rs2141028889
|
|
NM_025137.4(SPG11):c.2443A>G (p.Arg815Gly)
|
|
|
NM_025137.4(SPG11):c.2444+11dup
|
|
|
NM_025137.4(SPG11):c.2444+13G>A
|
|
|
NM_025137.4(SPG11):c.2444+15C>A
|
|
|
NM_025137.4(SPG11):c.2444+1G>A
|
rs312262743
|
|
NM_025137.4(SPG11):c.2444+1G>C
|
rs312262743
|
|
NM_025137.4(SPG11):c.2444+3A>T
|
rs1287398920
|
|
NM_025137.4(SPG11):c.2444+7T>C
|
|
|
NM_025137.4(SPG11):c.2444+8C>T
|
|
|
NM_025137.4(SPG11):c.2444+9A>G
|
rs2083772568
|
|
NM_025137.4(SPG11):c.2444G>A (p.Arg815Lys)
|
|
|
NM_025137.4(SPG11):c.2444G>T (p.Arg815Met)
|
rs312262742
|
|
NM_025137.4(SPG11):c.2445-14A>G
|
|
|
NM_025137.4(SPG11):c.2445-16A>G
|
|
|
NM_025137.4(SPG11):c.2445-18T>C
|
|
|
NM_025137.4(SPG11):c.2445-20del
|
rs374899647
|
|
NM_025137.4(SPG11):c.2445-32dup
|
rs374899647
|
|
NM_025137.4(SPG11):c.2445-7T>C
|
|
|
NM_025137.4(SPG11):c.2445-8G>C
|
rs777673463
|
|
NM_025137.4(SPG11):c.244G>A (p.Gly82Ser)
|
rs774004835
|
|
NM_025137.4(SPG11):c.2460A>G (p.Glu820=)
|
|
|
NM_025137.4(SPG11):c.246C>A (p.Gly82=)
|
|
|
NM_025137.4(SPG11):c.246C>T (p.Gly82=)
|
|
|
NM_025137.4(SPG11):c.2471del (p.Phe824fs)
|
rs764805516
|
|
NM_025137.4(SPG11):c.2471dup (p.Lys825fs)
|
|
|
NM_025137.4(SPG11):c.2472_2473insT (p.Lys825Ter)
|
rs312262744
|
|
NM_025137.4(SPG11):c.2478C>T (p.His826=)
|
|
|
NM_025137.4(SPG11):c.2483C>T (p.Ser828Phe)
|
rs2141028113
|
|
NM_025137.4(SPG11):c.2486T>G (p.Val829Gly)
|
rs1555455561
|
|
NM_025137.4(SPG11):c.248C>G (p.Pro83Arg)
|
rs1465468992
|
|
NM_025137.4(SPG11):c.2490G>A (p.Leu830=)
|
rs2141028079
|
|
NM_025137.4(SPG11):c.2494T>G (p.Ser832Ala)
|
rs2083762073
|
|
NM_025137.4(SPG11):c.2496A>G (p.Ser832=)
|
|
|
NM_025137.4(SPG11):c.249C>G (p.Pro83=)
|
|
|
NM_025137.4(SPG11):c.24G>T (p.Ala8=)
|
|
|
NM_025137.4(SPG11):c.2505A>G (p.Lys835=)
|
|
|
NM_025137.4(SPG11):c.2508T>C (p.Tyr836=)
|
rs770468335
|
|
NM_025137.4(SPG11):c.2509G>T (p.Asp837Tyr)
|
|
|
NM_025137.4(SPG11):c.2517del (p.Asp840fs)
|
rs2141027980
|
|
NM_025137.4(SPG11):c.251T>C (p.Phe84Ser)
|
rs2085177672
|
|
NM_025137.4(SPG11):c.251T>G (p.Phe84Cys)
|
rs2085177672
|
|
NM_025137.4(SPG11):c.2523del (p.Glu841fs)
|
|
|
NM_025137.4(SPG11):c.2534A>G (p.Gln845Arg)
|
rs1313372102
|
|
NM_025137.4(SPG11):c.2535G>A (p.Gln845=)
|
rs2141027925
|
|
NM_025137.4(SPG11):c.2536dup (p.Asp846fs)
|
rs2141027919
|
|
NM_025137.4(SPG11):c.2546T>C (p.Ile849Thr)
|
rs779087194
|
|
NM_025137.4(SPG11):c.2565G>A (p.Leu855=)
|
|
|
NM_025137.4(SPG11):c.2565G>C (p.Leu855=)
|
|
|
NM_025137.4(SPG11):c.2568G>A (p.Trp856Ter)
|
|
|
NM_025137.4(SPG11):c.257+12G>A
|
|
|
NM_025137.4(SPG11):c.257+14G>A
|
|
|
NM_025137.4(SPG11):c.257+15A>G
|
rs538988623
|
|
NM_025137.4(SPG11):c.257+17A>G
|
rs201878138
|
|
NM_025137.4(SPG11):c.257+17A>T
|
rs201878138
|
|
NM_025137.4(SPG11):c.257+18G>A
|
|
|
NM_025137.4(SPG11):c.257+1G>A
|
|
|
NM_025137.4(SPG11):c.257+8C>A
|
rs769518000
|
|
NM_025137.4(SPG11):c.257+8C>T
|
|
|
NM_025137.4(SPG11):c.257+9T>G
|
|
|
NM_025137.4(SPG11):c.2570G>A (p.Trp857Ter)
|
rs2141027825
|
|
NM_025137.4(SPG11):c.258-12T>C
|
|
|
NM_025137.4(SPG11):c.258-16A>C
|
|
|
NM_025137.4(SPG11):c.258-22_258-19del
|
|
|
NM_025137.4(SPG11):c.258-2A>G
|
rs781665076
|
|
NM_025137.4(SPG11):c.258-6del
|
rs373234269
|
|
NM_025137.4(SPG11):c.258-8T>G
|
|
|
NM_025137.4(SPG11):c.2581A>G (p.Thr861Ala)
|
rs2083759221
|
|
NM_025137.4(SPG11):c.2583A>C (p.Thr861=)
|
rs2141027797
|
|
NM_025137.4(SPG11):c.2586A>C (p.Gln862His)
|
rs533427143
|
|
NM_025137.4(SPG11):c.258C>T (p.His86=)
|
|
|
NM_025137.4(SPG11):c.2592C>T (p.Ser864=)
|
|
|
NM_025137.4(SPG11):c.2601C>A (p.Leu867=)
|
|
|
NM_025137.4(SPG11):c.2606G>C (p.Arg869Thr)
|
|
|
NM_025137.4(SPG11):c.2608A>G (p.Ile870Val)
|
rs312262745
|
|
NM_025137.4(SPG11):c.2612G>C (p.Ser871Thr)
|
|
|
NM_025137.4(SPG11):c.2614C>G (p.Pro872Ala)
|
|
|
NM_025137.4(SPG11):c.2621-13T>C
|
rs1595889099
|
|
NM_025137.4(SPG11):c.2621-153_2621-150del
|
rs137921465
|
|
NM_025137.4(SPG11):c.2621-15T>C
|
rs188590034
|
|
NM_025137.4(SPG11):c.2621-15dup
|
rs577083743
|
|
NM_025137.4(SPG11):c.2621-16G>T
|
rs905019416
|
|
NM_025137.4(SPG11):c.2621-18G>A
|
|
|
NM_025137.4(SPG11):c.2621-1G>A
|
|
|
NM_025137.4(SPG11):c.2621-6A>G
|
|
|
NM_025137.4(SPG11):c.2621-7C>T
|
|
|
NM_025137.4(SPG11):c.2621-7dup
|
|
|
NM_025137.4(SPG11):c.2621-8del
|
rs577083743
|
|
NM_025137.4(SPG11):c.2621-9_2621-8dup
|
|
|
NM_025137.4(SPG11):c.2621A>C (p.Glu874Ala)
|
rs2083709845
|
|
NM_025137.4(SPG11):c.2625C>G (p.Tyr875Ter)
|
|
|
NM_025137.4(SPG11):c.2626A>G (p.Lys876Glu)
|
|
|
NM_025137.4(SPG11):c.2627A>G (p.Lys876Arg)
|
|
|
NM_025137.4(SPG11):c.2630C>T (p.Ser877Leu)
|
|
|
NM_025137.4(SPG11):c.2633A>T (p.Tyr878Phe)
|
rs748331814
|
|
NM_025137.4(SPG11):c.2637C>T (p.Ser879=)
|
|
|
NM_025137.4(SPG11):c.2638C>T (p.Pro880Ser)
|
|
|
NM_025137.4(SPG11):c.2640T>C (p.Pro880=)
|
|
|
NM_025137.4(SPG11):c.2641G>A (p.Glu881Lys)
|
rs1595889023
|
|
NM_025137.4(SPG11):c.264A>G (p.Leu88=)
|
rs779845183
|
|
NM_025137.4(SPG11):c.2655A>G (p.Arg885=)
|
|
|
NM_025137.4(SPG11):c.2661C>T (p.Leu887=)
|
rs2141024751
|
|
NM_025137.4(SPG11):c.2664A>G (p.Thr888=)
|
|
|
NM_025137.4(SPG11):c.2669G>T (p.Arg890Leu)
|
rs376143651
|
|
NM_025137.4(SPG11):c.2670C>G (p.Arg890=)
|
|
|
NM_025137.4(SPG11):c.2670C>T (p.Arg890=)
|
|
|
NM_025137.4(SPG11):c.2672A>G (p.His891Arg)
|
rs1215566981
|
|
NM_025137.4(SPG11):c.2678G>A (p.Trp893Ter)
|
rs1555455266
|
|
NM_025137.4(SPG11):c.267G>A (p.Trp89Ter)
|
rs312262709
|
|
NM_025137.4(SPG11):c.2686A>G (p.Ile896Val)
|
|
|
NM_025137.4(SPG11):c.2686A>T (p.Ile896Phe)
|
rs753479999
|
|
NM_025137.4(SPG11):c.2689A>G (p.Ile897Val)
|
rs2083707431
|
|
NM_025137.4(SPG11):c.268G>T (p.Glu90Ter)
|
rs312262710
|
|
NM_025137.4(SPG11):c.2694A>G (p.Leu898=)
|
|
|
NM_025137.4(SPG11):c.2697G>A (p.Trp899Ter)
|
rs312262746
|
|
NM_025137.4(SPG11):c.2698A>T (p.Ile900Phe)
|
rs1239083839
|
|
NM_025137.4(SPG11):c.2703A>G (p.Gly901=)
|
|
|
NM_025137.4(SPG11):c.2704G>T (p.Glu902Ter)
|
|
|
NM_025137.4(SPG11):c.2710C>G (p.Gln904Glu)
|
rs760517153
|
|
NM_025137.4(SPG11):c.2714C>A (p.Thr905Asn)
|
|
|
NM_025137.4(SPG11):c.2716del (p.Gln906fs)
|
rs312262747
|
|
NM_025137.4(SPG11):c.2717A>C (p.Gln906Pro)
|
|
|
NM_025137.4(SPG11):c.2718G>A (p.Gln906=)
|
|
|
NM_025137.4(SPG11):c.2719C>A (p.His907Asn)
|
rs1411461951
|
|
NM_025137.4(SPG11):c.271G>T (p.Asp91Tyr)
|
|
|
NM_025137.4(SPG11):c.2732C>T (p.Ser911Leu)
|
rs2141024543
|
|
NM_025137.4(SPG11):c.2737C>T (p.Gln913Ter)
|
rs1555455246
|
|
NM_025137.4(SPG11):c.2737CAG[1] (p.Gln914del)
|
rs763096648
|
|
NM_025137.4(SPG11):c.2745C>T (p.Asn915=)
|
rs1595888890
|
|
NM_025137.4(SPG11):c.2751G>T (p.Trp917Cys)
|
rs2083705120
|
|
NM_025137.4(SPG11):c.2757_2775del (p.Leu920fs)
|
rs1595888828
|
|
NM_025137.4(SPG11):c.275C>T (p.Ser92Phe)
|
rs749964630
|
|
NM_025137.4(SPG11):c.276_285del (p.Arg93fs)
|
rs747220413
|
|
NM_025137.4(SPG11):c.277C>A (p.Arg93Ser)
|
|
|
NM_025137.4(SPG11):c.277C>T (p.Arg93Cys)
|
rs764731214
|
|
NM_025137.4(SPG11):c.2781G>A (p.Gln927=)
|
rs373088911
|
|
NM_025137.4(SPG11):c.2781G>T (p.Gln927His)
|
rs373088911
|
|
NM_025137.4(SPG11):c.278G>A (p.Arg93His)
|
rs149254262
|
|
NM_025137.4(SPG11):c.278G>C (p.Arg93Pro)
|
|
|
NM_025137.4(SPG11):c.278G>T (p.Arg93Leu)
|
|
|
NM_025137.4(SPG11):c.278del (p.Arg93fs)
|
rs2141130246
|
|
NM_025137.4(SPG11):c.2790del (p.Cys931fs)
|
rs1085307097
|
|
NM_025137.4(SPG11):c.27T>C (p.Ser9=)
|
|
|
NM_025137.4(SPG11):c.27_28insCA (p.Ala10fs)
|
rs1595945569
|
|
NM_025137.4(SPG11):c.2802del (p.Asn933_Tyr934insTer)
|
|
|
NM_025137.4(SPG11):c.2808G>A (p.Arg936=)
|
|
|
NM_025137.4(SPG11):c.2808G>T (p.Arg936Ser)
|
rs2083702773
|
|
NM_025137.4(SPG11):c.2820A>G (p.Leu940=)
|
|
|
NM_025137.4(SPG11):c.2824A>C (p.Lys942Gln)
|
|
|
NM_025137.4(SPG11):c.2829G>A (p.Leu943=)
|
rs1555455226
|
|
NM_025137.4(SPG11):c.282C>G (p.Asn94Lys)
|
|
|
NM_025137.4(SPG11):c.2833A>G (p.Arg945Gly)
|
rs312262748
|
|
NM_025137.4(SPG11):c.2834+15G>A
|
|
|
NM_025137.4(SPG11):c.2834+15G>C
|
rs2141024220
|
|
NM_025137.4(SPG11):c.2834+15G>T
|
|
|
NM_025137.4(SPG11):c.2834+1G>A
|
|
|
NM_025137.4(SPG11):c.2834+20A>C
|
|
|
NM_025137.4(SPG11):c.2834+5_2834+7del
|
rs759910630
|
|
NM_025137.4(SPG11):c.2842dup (p.Val948fs)
|
rs312262750
|
|
NM_025137.4(SPG11):c.2844T>A (p.Val948=)
|
rs2141015218
|
|
NM_025137.4(SPG11):c.2847T>C (p.Phe949=)
|
|
|
NM_025137.4(SPG11):c.2849del (p.Leu950fs)
|
rs1470463921
|
|
NM_025137.4(SPG11):c.2849dup (p.Leu950fs)
|
rs1470463921
|
|
NM_025137.4(SPG11):c.2851G>A (p.Ala951Thr)
|
rs1431880035
|
|
NM_025137.4(SPG11):c.2856T>C (p.Ser952=)
|
|
|
NM_025137.4(SPG11):c.2857G>A (p.Glu953Lys)
|
rs372906057
|
|
NM_025137.4(SPG11):c.2857G>C (p.Glu953Gln)
|
rs372906057
|
|
NM_025137.4(SPG11):c.2857G>T (p.Glu953Ter)
|
rs372906057
|
|
NM_025137.4(SPG11):c.2860C>T (p.Leu954=)
|
|
|
NM_025137.4(SPG11):c.2871T>C (p.Phe957=)
|
rs760820546
|
|
NM_025137.4(SPG11):c.2874A>G (p.Glu958=)
|
|
|
NM_025137.4(SPG11):c.2877C>A (p.Cys959Ter)
|
rs786204176
|
|
NM_025137.4(SPG11):c.2885T>C (p.Leu962Pro)
|
rs759969829
|
|
NM_025137.4(SPG11):c.2892G>A (p.Leu964=)
|
|
|
NM_025137.4(SPG11):c.2894G>A (p.Ser965Asn)
|
|
|
NM_025137.4(SPG11):c.2896C>A (p.Arg966Ser)
|
rs771538317
|
|
NM_025137.4(SPG11):c.2901T>C (p.Ile967=)
|
|
|
NM_025137.4(SPG11):c.2903G>A (p.Gly968Glu)
|
|
|
NM_025137.4(SPG11):c.2906G>A (p.Gly969Asp)
|
rs2083570700
|
|
NM_025137.4(SPG11):c.2910A>C (p.Val970=)
|
|
|
NM_025137.4(SPG11):c.2912T>G (p.Ile971Arg)
|
|
|
NM_025137.4(SPG11):c.2912_2914delinsGAT (p.Ile971_Gln972delinsArgTer)
|
rs1555454508
|
|
NM_025137.4(SPG11):c.2914C>T (p.Gln972Ter)
|
|
|
NM_025137.4(SPG11):c.2915A>G (p.Gln972Arg)
|
rs201282600
|
|
NM_025137.4(SPG11):c.2916G>A (p.Gln972=)
|
|
|
NM_025137.4(SPG11):c.2922C>T (p.Thr974=)
|
|
|
NM_025137.4(SPG11):c.2924T>C (p.Leu975Pro)
|
rs758207568
|
|
NM_025137.4(SPG11):c.2925C>T (p.Leu975=)
|
|
|
NM_025137.4(SPG11):c.2928T>A (p.Pro976=)
|
rs2141014954
|
|
NM_025137.4(SPG11):c.2933A>C (p.Gln978Pro)
|
rs2083569563
|
|
NM_025137.4(SPG11):c.2934A>G (p.Gln978=)
|
rs1595883979
|
|
NM_025137.4(SPG11):c.2938T>A (p.Tyr980Asn)
|
rs1595883966
|
|
NM_025137.4(SPG11):c.2946C>T (p.Thr982=)
|
|
|
NM_025137.4(SPG11):c.297T>C (p.Thr99=)
|
|
|
NM_025137.4(SPG11):c.2983dup (p.Tyr995fs)
|
|
|
NM_025137.4(SPG11):c.2984A>G (p.Tyr995Cys)
|
|
|
NM_025137.4(SPG11):c.2985T>G (p.Tyr995Ter)
|
|
|
NM_025137.4(SPG11):c.2989T>C (p.Leu997=)
|
|
|
NM_025137.4(SPG11):c.2990T>A (p.Leu997Ter)
|
rs1060501176
|
|
NM_025137.4(SPG11):c.2994G>A (p.Glu998=)
|
|
|
NM_025137.4(SPG11):c.29C>G (p.Ala10Gly)
|
rs750165094
|
|
NM_025137.4(SPG11):c.29C>T (p.Ala10Val)
|
rs750165094
|
|
NM_025137.4(SPG11):c.3000del (p.Leu1001fs)
|
rs1555454488
|
|
NM_025137.4(SPG11):c.3005A>C (p.Gln1002Pro)
|
rs2141014746
|
|
NM_025137.4(SPG11):c.3017A>G (p.Tyr1006Cys)
|
rs1374505304
|
|
NM_025137.4(SPG11):c.3019dup (p.Val1007fs)
|
|
|
NM_025137.4(SPG11):c.3021C>G (p.Val1007=)
|
rs1595883840
|
|
NM_025137.4(SPG11):c.3023A>C (p.Tyr1008Ser)
|
rs776158206
|
|
NM_025137.4(SPG11):c.3032G>A (p.Cys1011Tyr)
|
|
|
NM_025137.4(SPG11):c.3034del (p.Tyr1012fs)
|
rs2141014662
|
|
NM_025137.4(SPG11):c.3036C>A (p.Tyr1012Ter)
|
rs2083566245
|
|
NM_025137.4(SPG11):c.3036C>G (p.Tyr1012Ter)
|
|
|
NM_025137.4(SPG11):c.3037_3038+8del
|
|
|
NM_025137.4(SPG11):c.3038+12G>A
|
|
|
NM_025137.4(SPG11):c.3038+12G>C
|
|
|
NM_025137.4(SPG11):c.3038+18A>G
|
|
|
NM_025137.4(SPG11):c.3038+8C>G
|
|
|
NM_025137.4(SPG11):c.3039-10T>G
|
rs1567163243
|
|
NM_025137.4(SPG11):c.3039-13G>T
|
|
|
NM_025137.4(SPG11):c.3039-17G>C
|
|
|
NM_025137.4(SPG11):c.3039-20T>G
|
|
|
NM_025137.4(SPG11):c.3039-5T>C
|
rs763224175
|
|
NM_025137.4(SPG11):c.3039-5_3039-4delinsAT
|
rs2141011211
|
|
NM_025137.4(SPG11):c.3039-6A>G
|
|
|
NM_025137.4(SPG11):c.3039-6A>T
|
|
|
NM_025137.4(SPG11):c.3039-7T>C
|
|
|
NM_025137.4(SPG11):c.3042dup (p.Ser1015Ter)
|
|
|
NM_025137.4(SPG11):c.3057T>A (p.Cys1019Ter)
|
|
|
NM_025137.4(SPG11):c.3059C>G (p.Pro1020Arg)
|
rs2141011170
|
|
NM_025137.4(SPG11):c.3067G>T (p.Glu1023Ter)
|
|
|
NM_025137.4(SPG11):c.3070A>T (p.Lys1024Ter)
|
rs1157530441
|
|
NM_025137.4(SPG11):c.3074A>T (p.Lys1025Ile)
|
rs1567163203
|
|
NM_025137.4(SPG11):c.3074_3077del (p.Lys1025fs)
|
rs746971952
|
|
NM_025137.4(SPG11):c.3075A>T (p.Lys1025Asn)
|
|
|
NM_025137.4(SPG11):c.3075dup (p.Glu1026fs)
|
rs312262752
|
|
NM_025137.4(SPG11):c.3077A>T (p.Glu1026Val)
|
rs1567163181
|
|
NM_025137.4(SPG11):c.3077_3078del (p.Glu1026fs)
|
|
|
NM_025137.4(SPG11):c.3084T>C (p.His1028=)
|
|
|
NM_025137.4(SPG11):c.3092A>G (p.His1031Arg)
|
rs2141011065
|
|
NM_025137.4(SPG11):c.3095C>G (p.Pro1032Arg)
|
rs141106870
|
|
NM_025137.4(SPG11):c.3098G>T (p.Trp1033Leu)
|
rs1595881991
|
|
NM_025137.4(SPG11):c.30T>C (p.Ala10=)
|
rs765190254
|
|
NM_025137.4(SPG11):c.3110dup (p.Leu1037fs)
|
rs2141011028
|
|
NM_025137.4(SPG11):c.3114_3145+45del
|
rs2083509815
|
|
NM_025137.4(SPG11):c.3122G>C (p.Arg1041Pro)
|
|
|
NM_025137.4(SPG11):c.3124C>G (p.Gln1042Glu)
|
|
|
NM_025137.4(SPG11):c.3132C>G (p.Ala1044=)
|
rs770666794
|
|
NM_025137.4(SPG11):c.3132C>T (p.Ala1044=)
|
|
|
NM_025137.4(SPG11):c.3138C>T (p.Asn1046=)
|
rs2083512162
|
|
NM_025137.4(SPG11):c.3140T>G (p.Leu1047Ter)
|
rs2141010951
|
|
NM_025137.4(SPG11):c.3143_3144dup (p.Asp1049fs)
|
|
|
NM_025137.4(SPG11):c.3145+11A>G
|
|
|
NM_025137.4(SPG11):c.3145+13T>C
|
|
|
NM_025137.4(SPG11):c.3145+15T>C
|
|
|
NM_025137.4(SPG11):c.3145+19A>G
|
|
|
NM_025137.4(SPG11):c.3145+1G>A
|
|
|
NM_025137.4(SPG11):c.3145+1G>T
|
rs956922949
|
|
NM_025137.4(SPG11):c.3145+3A>G
|
rs755042849
|
|
NM_025137.4(SPG11):c.3146-13T>C
|
|
|
NM_025137.4(SPG11):c.3146-16G>A
|
|
|
NM_025137.4(SPG11):c.3146-17T>C
|
rs770702010
|
|
NM_025137.4(SPG11):c.3146-19A>G
|
|
|
NM_025137.4(SPG11):c.3146-20C>T
|
|
|
NM_025137.4(SPG11):c.3146-4C>T
|
rs747053234
|
|
NM_025137.4(SPG11):c.3146-5T>A
|
|
|
NM_025137.4(SPG11):c.3146A>T (p.Asp1049Val)
|
rs2083444672
|
|
NM_025137.4(SPG11):c.3148C>T (p.Pro1050Ser)
|
rs2083444609
|
|
NM_025137.4(SPG11):c.3151A>G (p.Lys1051Glu)
|
rs1595879028
|
|
NM_025137.4(SPG11):c.3152A>C (p.Lys1051Thr)
|
|
|
NM_025137.4(SPG11):c.3153A>G (p.Lys1051=)
|
|
|
NM_025137.4(SPG11):c.3154C>T (p.Leu1052=)
|
|
|
NM_025137.4(SPG11):c.315C>T (p.Leu105=)
|
|
|
NM_025137.4(SPG11):c.315del (p.Ala106fs)
|
rs1595940106
|
|
NM_025137.4(SPG11):c.3168T>C (p.Ala1056=)
|
rs2083444214
|
|
NM_025137.4(SPG11):c.3169A>G (p.Ser1057Gly)
|
|
|
NM_025137.4(SPG11):c.3175_3176delinsTG (p.Ala1059Ter)
|
|
|
NM_025137.4(SPG11):c.3184C>G (p.Gln1062Glu)
|
|
|
NM_025137.4(SPG11):c.3184C>T (p.Gln1062Ter)
|
rs370252831
|
|
NM_025137.4(SPG11):c.3185A>C (p.Gln1062Pro)
|
rs146520557
|
|
NM_025137.4(SPG11):c.3186G>C (p.Gln1062His)
|
rs11070430
|
|
NM_025137.4(SPG11):c.3190T>A (p.Leu1064Met)
|
|
|
NM_025137.4(SPG11):c.3192del (p.Ile1065fs)
|
rs1595878941
|
|
NM_025137.4(SPG11):c.3196C>A (p.Pro1066Thr)
|
|
|
NM_025137.4(SPG11):c.3198C>T (p.Pro1066=)
|
rs1595878904
|
|
NM_025137.4(SPG11):c.3203A>G (p.Asn1068Ser)
|
rs1439670067
|
|
NM_025137.4(SPG11):c.3207G>A (p.Gln1069=)
|
|
|
NM_025137.4(SPG11):c.3208G>A (p.Ala1070Thr)
|
|
|
NM_025137.4(SPG11):c.3212G>C (p.Ser1071Thr)
|
|
|
NM_025137.4(SPG11):c.3213_3214insCCCT (p.Val1072fs)
|
rs767798272
|
|
NM_025137.4(SPG11):c.3223A>G (p.Met1075Val)
|
|
|
NM_025137.4(SPG11):c.3231G>A (p.Leu1077=)
|
|
|
NM_025137.4(SPG11):c.3237A>G (p.Gly1079=)
|
|
|
NM_025137.4(SPG11):c.3237A>T (p.Gly1079=)
|
|
|
NM_025137.4(SPG11):c.3244C>G (p.Leu1082Val)
|
rs1183035882
|
|
NM_025137.4(SPG11):c.3244C>T (p.Leu1082Phe)
|
|
|
NM_025137.4(SPG11):c.3247C>A (p.Leu1083Met)
|
rs1595878796
|
|
NM_025137.4(SPG11):c.324T>A (p.Gly108=)
|
rs1555383447
|
|
NM_025137.4(SPG11):c.3250G>A (p.Ala1084Thr)
|
|
|
NM_025137.4(SPG11):c.3260_3267dup (p.Tyr1090fs)
|
rs1555453727
|
|
NM_025137.4(SPG11):c.3262A>G (p.Thr1088Ala)
|
rs1221018693
|
|
NM_025137.4(SPG11):c.3266T>G (p.Met1089Arg)
|
rs1291491649
|
|
NM_025137.4(SPG11):c.3269A>G (p.Tyr1090Cys)
|
rs2083441234
|
|
NM_025137.4(SPG11):c.3271T>G (p.Ser1091Ala)
|
rs2141004955
|
|
NM_025137.4(SPG11):c.3275C>T (p.Pro1092Leu)
|
|
|
NM_025137.4(SPG11):c.3282T>C (p.Gly1094=)
|
|
|
NM_025137.4(SPG11):c.3282T>G (p.Gly1094=)
|
|
|
NM_025137.4(SPG11):c.3285C>T (p.Val1095=)
|
rs2141004913
|
|
NM_025137.4(SPG11):c.3289C>T (p.Gln1097Ter)
|
|
|
NM_025137.4(SPG11):c.3291+13C>G
|
|
|
NM_025137.4(SPG11):c.3291+16T>C
|
|
|
NM_025137.4(SPG11):c.3291+16T>G
|
|
|
NM_025137.4(SPG11):c.3291+1G>T
|
rs312262753
|
|
NM_025137.4(SPG11):c.3291+20A>G
|
|
|
NM_025137.4(SPG11):c.3291+8T>C
|
|
|
NM_025137.4(SPG11):c.3292-10_3292-9insG
|
|
|
NM_025137.4(SPG11):c.3292-12T>C
|
|
|
NM_025137.4(SPG11):c.3292-13T>C
|
|
|
NM_025137.4(SPG11):c.3292-16C>G
|
|
|
NM_025137.4(SPG11):c.3292-16C>T
|
|
|
NM_025137.4(SPG11):c.3292-1G>C
|
|
|
NM_025137.4(SPG11):c.3292-4T>G
|
|
|
NM_025137.4(SPG11):c.3292-5C>T
|
rs2140999966
|
|
NM_025137.4(SPG11):c.3292-7del
|
|
|
NM_025137.4(SPG11):c.3292-7dup
|
|
|
NM_025137.4(SPG11):c.3292-8_3292-7dup
|
rs753333408
|
|
NM_025137.4(SPG11):c.3292G>T (p.Val1098Phe)
|
|
|
NM_025137.4(SPG11):c.3295G>A (p.Val1099Ile)
|
|
|
NM_025137.4(SPG11):c.3311dup (p.Asn1104fs)
|
rs753257469
|
|
NM_025137.4(SPG11):c.3313G>C (p.Glu1105Gln)
|
|
|
NM_025137.4(SPG11):c.3315A>G (p.Glu1105=)
|
|
|
NM_025137.4(SPG11):c.331T>A (p.Tyr111Asn)
|
rs2085074518
|
|
NM_025137.4(SPG11):c.3320_3321del (p.Cys1107fs)
|
rs1366914385
|
|
NM_025137.4(SPG11):c.3321_3324del (p.Asn1106_Cys1107insTer)
|
rs768131119
|
|
NM_025137.4(SPG11):c.3322T>G (p.Leu1108Val)
|
|
|
NM_025137.4(SPG11):c.3323T>C (p.Leu1108Ser)
|
|
|
NM_025137.4(SPG11):c.332A>T (p.Tyr111Phe)
|
rs2141130065
|
|
NM_025137.4(SPG11):c.3335A>G (p.Asp1112Gly)
|
rs950287511
|
|
NM_025137.4(SPG11):c.3338C>A (p.Pro1113His)
|
rs2083380998
|
|
NM_025137.4(SPG11):c.3340C>T (p.Gln1114Ter)
|
|
|
NM_025137.4(SPG11):c.3348G>A (p.Leu1116=)
|
|
|
NM_025137.4(SPG11):c.334G>T (p.Glu112Ter)
|
rs1595940058
|
|
NM_025137.4(SPG11):c.3357A>G (p.Ala1119=)
|
|
|
NM_025137.4(SPG11):c.3365C>T (p.Pro1122Leu)
|
|
|
NM_025137.4(SPG11):c.3366T>C (p.Pro1122=)
|
rs774332666
|
|
NM_025137.4(SPG11):c.3369C>T (p.Tyr1123=)
|
|
|
NM_025137.4(SPG11):c.3374A>G (p.Lys1125Arg)
|
rs1421555064
|
|
NM_025137.4(SPG11):c.337C>T (p.Leu113=)
|
rs878855128
|
|
NM_025137.4(SPG11):c.3388C>G (p.Leu1130Val)
|
|
|
NM_025137.4(SPG11):c.3390C>G (p.Leu1130=)
|
|
|
NM_025137.4(SPG11):c.3393C>T (p.Phe1131=)
|
|
|
NM_025137.4(SPG11):c.3399G>T (p.Gln1133His)
|
rs1051475016
|
|
NM_025137.4(SPG11):c.339G>C (p.Leu113=)
|
rs373238538
|
|
NM_025137.4(SPG11):c.339G>T (p.Leu113=)
|
rs373238538
|
|
NM_025137.4(SPG11):c.33T>A (p.Ala11=)
|
|
|
NM_025137.4(SPG11):c.3408T>A (p.Pro1136=)
|
|
|
NM_025137.4(SPG11):c.340C>T (p.Leu114Phe)
|
|
|
NM_025137.4(SPG11):c.3410dup (p.Pro1137_Ser1138insTer)
|
rs1470512931
|
|
NM_025137.4(SPG11):c.3417C>T (p.Val1139=)
|
|
|
NM_025137.4(SPG11):c.341T>C (p.Leu114Pro)
|
|
|
NM_025137.4(SPG11):c.3423A>G (p.Pro1141=)
|
|
|
NM_025137.4(SPG11):c.3433A>G (p.Thr1145Ala)
|
rs755490045
|
|
NM_025137.4(SPG11):c.3438C>T (p.Ile1146=)
|
rs1484117125
|
|
NM_025137.4(SPG11):c.3440A>G (p.Tyr1147Cys)
|
|
|
NM_025137.4(SPG11):c.3447del (p.Ile1150fs)
|
rs2140999428
|
|
NM_025137.4(SPG11):c.3449T>C (p.Ile1150Thr)
|
|
|
NM_025137.4(SPG11):c.3453+10T>C
|
rs2083377248
|
|
NM_025137.4(SPG11):c.3453+17G>T
|
|
|
NM_025137.4(SPG11):c.3453+19C>G
|
|
|
NM_025137.4(SPG11):c.3453+19C>T
|
|
|
NM_025137.4(SPG11):c.3453+1G>T
|
|
|
NM_025137.4(SPG11):c.3453+6_3453+7insCT
|
|
|
NM_025137.4(SPG11):c.3453+8A>T
|
|
|
NM_025137.4(SPG11):c.3454-13T>C
|
|
|
NM_025137.4(SPG11):c.3454-16T>G
|
|
|
NM_025137.4(SPG11):c.3454-20T>C
|
|
|
NM_025137.4(SPG11):c.3454-28A>G
|
|
|
NM_025137.4(SPG11):c.3454-6T>C
|
rs2140994495
|
|
NM_025137.4(SPG11):c.3457T>G (p.Leu1153Val)
|
rs2140994487
|
|
NM_025137.4(SPG11):c.3458T>C (p.Leu1153Ser)
|
rs2083311354
|
|
NM_025137.4(SPG11):c.3459A>C (p.Leu1153Phe)
|
|
|
NM_025137.4(SPG11):c.3461C>T (p.Ser1154Leu)
|
rs2140994460
|
|
NM_025137.4(SPG11):c.3464_3465del (p.Pro1155fs)
|
rs2083311058
|
|
NM_025137.4(SPG11):c.3471T>C (p.Asp1157=)
|
|
|
NM_025137.4(SPG11):c.3472C>G (p.Pro1158Ala)
|
rs750011115
|
|
NM_025137.4(SPG11):c.3474T>G (p.Pro1158=)
|
|
|
NM_025137.4(SPG11):c.3476G>A (p.Ser1159Asn)
|
rs2083310810
|
|
NM_025137.4(SPG11):c.347A>G (p.Tyr116Cys)
|
rs1186964654
|
|
NM_025137.4(SPG11):c.3480A>G (p.Arg1160=)
|
|
|
NM_025137.4(SPG11):c.3488G>T (p.Gly1163Val)
|
rs376821867
|
|
NM_025137.4(SPG11):c.3492G>T (p.Trp1164Cys)
|
rs2083310287
|
|
NM_025137.4(SPG11):c.349G>T (p.Glu117Ter)
|
rs312262711
|
|
NM_025137.4(SPG11):c.34T>C (p.Ser12Pro)
|
rs753871631
|
|
NM_025137.4(SPG11):c.3502A>G (p.Asn1168Asp)
|
rs763749443
|
|
NM_025137.4(SPG11):c.3504C>A (p.Asn1168Lys)
|
rs199712393
|
|
NM_025137.4(SPG11):c.3506C>T (p.Thr1169Ile)
|
rs2083309611
|
|
NM_025137.4(SPG11):c.3508C>A (p.Leu1170Ile)
|
rs534771304
|
|
NM_025137.4(SPG11):c.3514dup (p.Ile1172fs)
|
|
|
NM_025137.4(SPG11):c.3516A>G (p.Ile1172Met)
|
|
|
NM_025137.4(SPG11):c.3520+10C>G
|
|
|
NM_025137.4(SPG11):c.3520+11A>G
|
|
|
NM_025137.4(SPG11):c.3520+13G>T
|
|
|
NM_025137.4(SPG11):c.3520+14G>A
|
rs1198359789
|
|
NM_025137.4(SPG11):c.3520+17A>G
|
|
|
NM_025137.4(SPG11):c.3520+20T>A
|
rs376883385
|
|
NM_025137.4(SPG11):c.3521-2A>G
|
|
|
NM_025137.4(SPG11):c.3521-4C>G
|
rs2140982563
|
|
NM_025137.4(SPG11):c.3521-6C>T
|
|
|
NM_025137.4(SPG11):c.3521-7C>G
|
rs2083161976
|
|
NM_025137.4(SPG11):c.3521-9T>A
|
rs1395728939
|
|
NM_025137.4(SPG11):c.3522T>G (p.Asp1174Glu)
|
rs777278944
|
|
NM_025137.4(SPG11):c.3525A>C (p.Ala1175=)
|
|
|
NM_025137.4(SPG11):c.3527G>A (p.Trp1176Ter)
|
|
|
NM_025137.4(SPG11):c.3538C>G (p.Pro1180Ala)
|
rs747910594
|
|
NM_025137.4(SPG11):c.3542A>G (p.His1181Arg)
|
rs912012668
|
|
NM_025137.4(SPG11):c.3548C>G (p.Ser1183Cys)
|
|
|
NM_025137.4(SPG11):c.354T>C (p.Phe118=)
|
rs1435339925
|
|
NM_025137.4(SPG11):c.3552C>T (p.Ser1184=)
|
rs367780059
|
|
NM_025137.4(SPG11):c.3558C>T (p.Asp1186=)
|
rs201902382
|
|
NM_025137.4(SPG11):c.3571T>A (p.Tyr1191Asn)
|
|
|
NM_025137.4(SPG11):c.3573dup (p.Ala1192fs)
|
rs2140982382
|
|
NM_025137.4(SPG11):c.3581T>C (p.Val1194Ala)
|
|
|
NM_025137.4(SPG11):c.3592A>G (p.Asn1198Asp)
|
rs2083159214
|
|
NM_025137.4(SPG11):c.3594T>C (p.Asn1198=)
|
|
|
NM_025137.4(SPG11):c.3595T>G (p.Phe1199Val)
|
rs774716138
|
|
NM_025137.4(SPG11):c.359T>C (p.Leu120Ser)
|
|
|
NM_025137.4(SPG11):c.359T>G (p.Leu120Trp)
|
rs764858234
|
|
NM_025137.4(SPG11):c.359del (p.Asn119_Leu120insTer)
|
rs312262712
|
|
NM_025137.4(SPG11):c.3602_3603del (p.Tyr1201fs)
|
rs312262754
|
|
NM_025137.4(SPG11):c.3609A>T (p.Leu1203Phe)
|
rs1390671994
|
|
NM_025137.4(SPG11):c.3614A>G (p.Asn1205Ser)
|
|
|
NM_025137.4(SPG11):c.3614A>T (p.Asn1205Ile)
|
rs1451774392
|
|
NM_025137.4(SPG11):c.3619C>G (p.Arg1207Gly)
|
|
|
NM_025137.4(SPG11):c.3619C>T (p.Arg1207Trp)
|
rs199986067
|
|
NM_025137.4(SPG11):c.3624A>G (p.Pro1208=)
|
|
|
NM_025137.4(SPG11):c.3624A>T (p.Pro1208=)
|
|
|
NM_025137.4(SPG11):c.362A>G (p.Lys121Arg)
|
|
|
NM_025137.4(SPG11):c.3633A>G (p.Ala1211=)
|
rs1464516168
|
|
NM_025137.4(SPG11):c.3642T>A (p.Thr1214=)
|
|
|
NM_025137.4(SPG11):c.3646C>G (p.Leu1216Val)
|
rs12902253
|
|
NM_025137.4(SPG11):c.3651C>A (p.Val1217=)
|
|
|
NM_025137.4(SPG11):c.3657A>G (p.Glu1219=)
|
|
|
NM_025137.4(SPG11):c.3662T>C (p.Ile1221Thr)
|
rs756274932
|
|
NM_025137.4(SPG11):c.3662_3665del (p.Ile1221fs)
|
|
|
NM_025137.4(SPG11):c.3670A>C (p.Lys1224Gln)
|
rs2140982065
|
|
NM_025137.4(SPG11):c.3672G>A (p.Lys1224=)
|
rs752901786
|
|
NM_025137.4(SPG11):c.3677C>G (p.Pro1226Arg)
|
rs1478064859
|
|
NM_025137.4(SPG11):c.3677C>T (p.Pro1226Leu)
|
rs1478064859
|
|
NM_025137.4(SPG11):c.3678C>G (p.Pro1226=)
|
rs2140982045
|
|
NM_025137.4(SPG11):c.367G>A (p.Gly123Arg)
|
|
|
NM_025137.4(SPG11):c.3681G>A (p.Lys1227=)
|
|
|
NM_025137.4(SPG11):c.3686+16A>G
|
|
|
NM_025137.4(SPG11):c.3686+17T>C
|
|
|
NM_025137.4(SPG11):c.3686+20T>A
|
|
|
NM_025137.4(SPG11):c.3686+2T>A
|
rs1555451983
|
|
NM_025137.4(SPG11):c.3686+2_3686+3del
|
rs1268481547
|
|
NM_025137.4(SPG11):c.3686+4A>G
|
rs1595865855
|
|
NM_025137.4(SPG11):c.3687-13C>G
|
|
|
NM_025137.4(SPG11):c.3687-13_3687-9del
|
rs766788316
|
|
NM_025137.4(SPG11):c.3687-14C>A
|
|
|
NM_025137.4(SPG11):c.3687-14C>T
|
|
|
NM_025137.4(SPG11):c.3687-1_3687delinsTA
|
|
|
NM_025137.4(SPG11):c.3687-2A>G
|
|
|
NM_025137.4(SPG11):c.3687-7T>G
|
rs1264219476
|
|
NM_025137.4(SPG11):c.3687-8T>C
|
rs2083112248
|
|
NM_025137.4(SPG11):c.3687-9C>G
|
|
|
NM_025137.4(SPG11):c.3691C>T (p.Gln1231Ter)
|
|
|
NM_025137.4(SPG11):c.3696A>G (p.Gln1232=)
|
|
|
NM_025137.4(SPG11):c.3702C>A (p.Gly1234=)
|
|
|
NM_025137.4(SPG11):c.3711dup (p.Tyr1238fs)
|
rs750663981
|
|
NM_025137.4(SPG11):c.3719_3720del (p.Ile1240fs)
|
rs312262756
|
|
NM_025137.4(SPG11):c.3725T>C (p.Leu1242Pro)
|
rs2083110455
|
|
NM_025137.4(SPG11):c.3729C>T (p.Ser1243=)
|
|
|
NM_025137.4(SPG11):c.3729del (p.Ser1244fs)
|
rs2140978326
|
|
NM_025137.4(SPG11):c.3736_3746del (p.His1246fs)
|
rs2140978275
|
|
NM_025137.4(SPG11):c.373T>C (p.Cys125Arg)
|
rs2141129973
|
|
NM_025137.4(SPG11):c.3741dup (p.Pro1248fs)
|
rs312262757
|
|
NM_025137.4(SPG11):c.3742C>A (p.Pro1248Thr)
|
rs2140978285
|
|
NM_025137.4(SPG11):c.3748A>G (p.Ile1250Val)
|
rs2140978260
|
|
NM_025137.4(SPG11):c.3752G>T (p.Gly1251Val)
|
|
|
NM_025137.4(SPG11):c.3757G>A (p.Ala1253Thr)
|
|
|
NM_025137.4(SPG11):c.3759A>G (p.Ala1253=)
|
|
|
NM_025137.4(SPG11):c.3778T>G (p.Leu1260Val)
|
rs776154524
|
|
NM_025137.4(SPG11):c.3784G>T (p.Gly1262Cys)
|
rs2083108639
|
|
NM_025137.4(SPG11):c.3785G>T (p.Gly1262Val)
|
rs1057518874
|
|
NM_025137.4(SPG11):c.3789_3797del (p.Asp1264_Leu1266del)
|
rs2140978149
|
|
NM_025137.4(SPG11):c.378T>C (p.Asp126=)
|
|
|
NM_025137.4(SPG11):c.3798C>G (p.Leu1266=)
|
|
|
NM_025137.4(SPG11):c.3804C>G (p.Leu1268=)
|
|
|
NM_025137.4(SPG11):c.3808del (p.Val1270fs)
|
|
|
NM_025137.4(SPG11):c.3809T>A (p.Val1270Asp)
|
rs1555451521
|
|
NM_025137.4(SPG11):c.380C>T (p.Ala127Val)
|
rs2085073055
|
|
NM_025137.4(SPG11):c.3814A>C (p.Met1272Leu)
|
|
|
NM_025137.4(SPG11):c.3814A>G (p.Met1272Val)
|
rs2083107613
|
|
NM_025137.4(SPG11):c.3816G>C (p.Met1272Ile)
|
|
|
NM_025137.4(SPG11):c.3818A>C (p.Lys1273Thr)
|
rs76389165
|
|
NM_025137.4(SPG11):c.3822G>C (p.Val1274=)
|
|
|
NM_025137.4(SPG11):c.3824C>A (p.Ala1275Asp)
|
|
|
NM_025137.4(SPG11):c.3828T>C (p.Asn1276=)
|
|
|
NM_025137.4(SPG11):c.3839G>C (p.Ser1280Thr)
|
|
|
NM_025137.4(SPG11):c.3846G>A (p.Lys1282=)
|
|
|
NM_025137.4(SPG11):c.3853A>G (p.Asn1285Asp)
|
rs1422320754
|
|
NM_025137.4(SPG11):c.3861T>C (p.Asp1287=)
|
|
|
NM_025137.4(SPG11):c.3868dup (p.Tyr1290fs)
|
rs1555451491
|
|
NM_025137.4(SPG11):c.3873C>T (p.Ser1291=)
|
|
|
NM_025137.4(SPG11):c.3880A>G (p.Arg1294Gly)
|
rs1595863721
|
|
NM_025137.4(SPG11):c.3887C>G (p.Ser1296Cys)
|
|
|
NM_025137.4(SPG11):c.3889G>T (p.Val1297Leu)
|
|
|
NM_025137.4(SPG11):c.3892+10C>A
|
rs907855830
|
|
NM_025137.4(SPG11):c.3892+12T>G
|
|
|
NM_025137.4(SPG11):c.3892+14T>C
|
|
|
NM_025137.4(SPG11):c.3892+14del
|
|
|
NM_025137.4(SPG11):c.3892+16T>C
|
|
|
NM_025137.4(SPG11):c.3892+20G>T
|
|
|
NM_025137.4(SPG11):c.3892+3dup
|
rs1265100911
|
|
NM_025137.4(SPG11):c.3892+7C>T
|
|
|
NM_025137.4(SPG11):c.3892+9C>A
|
rs1567151053
|
|
NM_025137.4(SPG11):c.3893-11A>T
|
|
|
NM_025137.4(SPG11):c.3893-13A>G
|
|
|
NM_025137.4(SPG11):c.3893-14T>A
|
|
|
NM_025137.4(SPG11):c.3893-14_3902inv
|
|
|
NM_025137.4(SPG11):c.3893-20_3893-9del
|
rs765375192
|
|
NM_025137.4(SPG11):c.3893-4A>C
|
|
|
NM_025137.4(SPG11):c.3893-5T>A
|
|
|
NM_025137.4(SPG11):c.3893-6T>C
|
|
|
NM_025137.4(SPG11):c.3893-7C>T
|
|
|
NM_025137.4(SPG11):c.3893-8T>A
|
|
|
NM_025137.4(SPG11):c.3893-8T>C
|
|
|
NM_025137.4(SPG11):c.3893C>G (p.Ala1298Gly)
|
|
|
NM_025137.4(SPG11):c.3901C>A (p.Leu1301Ile)
|
rs2140977252
|
|
NM_025137.4(SPG11):c.3901C>T (p.Leu1301=)
|
|
|
NM_025137.4(SPG11):c.3903A>G (p.Leu1301=)
|
|
|
NM_025137.4(SPG11):c.3905C>T (p.Ser1302Phe)
|
|
|
NM_025137.4(SPG11):c.3906T>C (p.Ser1302=)
|
|
|
NM_025137.4(SPG11):c.3909del (p.Lys1303fs)
|
rs2140977221
|
|
NM_025137.4(SPG11):c.390G>A (p.Leu130=)
|
|
|
NM_025137.4(SPG11):c.3914C>G (p.Ala1305Gly)
|
rs746116309
|
|
NM_025137.4(SPG11):c.3922G>A (p.Glu1308Lys)
|
rs779198786
|
|
NM_025137.4(SPG11):c.3930A>T (p.Thr1310=)
|
|
|
NM_025137.4(SPG11):c.3930_3932del (p.Thr1312del)
|
rs759504944
|
|
NM_025137.4(SPG11):c.3932C>T (p.Thr1311Ile)
|
|
|
NM_025137.4(SPG11):c.3934A>C (p.Thr1312Pro)
|
rs754276052
|
|
NM_025137.4(SPG11):c.3938A>T (p.Glu1313Val)
|
rs1567150790
|
|
NM_025137.4(SPG11):c.3943T>C (p.Leu1315=)
|
|
|
NM_025137.4(SPG11):c.3951T>C (p.Val1317=)
|
|
|
NM_025137.4(SPG11):c.3960A>G (p.Glu1320=)
|
|
|
NM_025137.4(SPG11):c.3967A>C (p.Thr1323Pro)
|
|
|
NM_025137.4(SPG11):c.396C>T (p.Ser132=)
|
|
|
NM_025137.4(SPG11):c.3975_3993del (p.Asn1325fs)
|
rs1555451417
|
|
NM_025137.4(SPG11):c.3976A>G (p.Ser1326Gly)
|
|
|
NM_025137.4(SPG11):c.3978C>T (p.Ser1326=)
|
|
|
NM_025137.4(SPG11):c.3980T>C (p.Ile1327Thr)
|
|
|
NM_025137.4(SPG11):c.3980_3986del (p.Ile1327fs)
|
|
|
NM_025137.4(SPG11):c.3986A>G (p.Gln1329Arg)
|
rs2140976920
|
|
NM_025137.4(SPG11):c.3987A>G (p.Gln1329=)
|
rs2140976916
|
|
NM_025137.4(SPG11):c.3989A>G (p.Gln1330Arg)
|
rs2083094391
|
|
NM_025137.4(SPG11):c.398del (p.Cys133fs)
|
rs312262713
|
|
NM_025137.4(SPG11):c.3997A>T (p.Lys1333Ter)
|
rs2140976871
|
|
NM_025137.4(SPG11):c.3998del (p.Lys1333fs)
|
|
|
NM_025137.4(SPG11):c.399T>C (p.Cys133=)
|
rs2141129858
|
|
NM_025137.4(SPG11):c.4001+13C>A
|
|
|
NM_025137.4(SPG11):c.4001+14A>G
|
|
|
NM_025137.4(SPG11):c.4001+15G>A
|
rs771279650
|
|
NM_025137.4(SPG11):c.4001+16T>A
|
|
|
NM_025137.4(SPG11):c.4001+7G>A
|
|
|
NM_025137.4(SPG11):c.4001G>A (p.Arg1334Lys)
|
|
|
NM_025137.4(SPG11):c.4002-168del
|
rs201600828
|
|
NM_025137.4(SPG11):c.4002-169_4002-168del
|
rs201600828
|
|
NM_025137.4(SPG11):c.4002-16C>G
|
rs2083059720
|
|
NM_025137.4(SPG11):c.4002-187dup
|
rs201600828
|
|
NM_025137.4(SPG11):c.4002-18C>T
|
|
|
NM_025137.4(SPG11):c.4002-2A>G
|
rs2140973951
|
|
NM_025137.4(SPG11):c.4002-3T>G
|
|
|
NM_025137.4(SPG11):c.4002-6T>C
|
|
|
NM_025137.4(SPG11):c.4002-7_4002-1del
|
|
|
NM_025137.4(SPG11):c.4008C>G (p.Ser1336=)
|
|
|
NM_025137.4(SPG11):c.4012G>C (p.Glu1338Gln)
|
rs1555451163
|
|
NM_025137.4(SPG11):c.4014A>G (p.Glu1338=)
|
|
|
NM_025137.4(SPG11):c.4018A>G (p.Ser1340Gly)
|
rs2083058904
|
|
NM_025137.4(SPG11):c.4030G>C (p.Ala1344Pro)
|
|
|
NM_025137.4(SPG11):c.4035A>G (p.Leu1345=)
|
rs2140973839
|
|
NM_025137.4(SPG11):c.4042C>T (p.Gln1348Ter)
|
rs1555451152
|
|
NM_025137.4(SPG11):c.4043dup (p.Phe1349fs)
|
rs2083058016
|
|
NM_025137.4(SPG11):c.4045T>A (p.Phe1349Ile)
|
|
|
NM_025137.4(SPG11):c.4046T>A (p.Phe1349Tyr)
|
rs312262758
|
|
NM_025137.4(SPG11):c.4047C>T (p.Phe1349=)
|
|
|
NM_025137.4(SPG11):c.4052G>A (p.Arg1351Lys)
|
rs564171625
|
|
NM_025137.4(SPG11):c.4056A>C (p.Leu1352=)
|
|
|
NM_025137.4(SPG11):c.4063A>G (p.Met1355Val)
|
rs2140973745
|
|
NM_025137.4(SPG11):c.4065dup (p.Lys1356fs)
|
|
|
NM_025137.4(SPG11):c.4072A>C (p.Ser1358Arg)
|
|
|
NM_025137.4(SPG11):c.4072del (p.Ser1358fs)
|
|
|
NM_025137.4(SPG11):c.4075A>G (p.Ile1359Val)
|
|
|
NM_025137.4(SPG11):c.4077A>T (p.Ile1359=)
|
rs541172391
|
|
NM_025137.4(SPG11):c.4082A>C (p.Tyr1361Ser)
|
|
|
NM_025137.4(SPG11):c.4083C>A (p.Tyr1361Ter)
|
rs764880157
|
|
NM_025137.4(SPG11):c.4083C>T (p.Tyr1361=)
|
|
|
NM_025137.4(SPG11):c.408_428del (p.Glu136_Ile142del)
|
rs312262714
|
|
NM_025137.4(SPG11):c.4096G>A (p.Ala1366Thr)
|
rs1197681500
|
|
NM_025137.4(SPG11):c.4097C>G (p.Ala1366Gly)
|
rs774455763
|
|
NM_025137.4(SPG11):c.409G>A (p.Ala137Thr)
|
rs1218211158
|
|
NM_025137.4(SPG11):c.40G>A (p.Gly14Ser)
|
|
|
NM_025137.4(SPG11):c.4107_4109delinsAG (p.Asn1369fs)
|
|
|
NM_025137.4(SPG11):c.4118A>G (p.Gln1373Arg)
|
rs2140973544
|
|
NM_025137.4(SPG11):c.4119G>A (p.Gln1373=)
|
|
|
NM_025137.4(SPG11):c.4122C>G (p.Phe1374Leu)
|
rs1194478318
|
|
NM_025137.4(SPG11):c.4123ATT[1] (p.Ile1376del)
|
rs2140973530
|
|
NM_025137.4(SPG11):c.4137A>T (p.Gln1379His)
|
rs748617459
|
|
NM_025137.4(SPG11):c.4143C>T (p.His1381=)
|
|
|
NM_025137.4(SPG11):c.4144A>G (p.Asn1382Asp)
|
|
|
NM_025137.4(SPG11):c.4146C>T (p.Asn1382=)
|
|
|
NM_025137.4(SPG11):c.4149C>T (p.Tyr1383=)
|
|
|
NM_025137.4(SPG11):c.4155A>C (p.Pro1385=)
|
rs1328264036
|
|
NM_025137.4(SPG11):c.4157C>T (p.Ala1386Val)
|
|
|
NM_025137.4(SPG11):c.415C>G (p.Gln139Glu)
|
|
|
NM_025137.4(SPG11):c.4161+14T>C
|
|
|
NM_025137.4(SPG11):c.4161+14T>G
|
|
|
NM_025137.4(SPG11):c.4161+9C>G
|
rs1555451101
|
|
NM_025137.4(SPG11):c.4162-10T>C
|
rs765557765
|
|
NM_025137.4(SPG11):c.4162-10T>G
|
|
|
NM_025137.4(SPG11):c.4162-11A>G
|
|
|
NM_025137.4(SPG11):c.4162-13A>G
|
|
|
NM_025137.4(SPG11):c.4162-4C>A
|
|
|
NM_025137.4(SPG11):c.4162-4C>T
|
rs777010404
|
|
NM_025137.4(SPG11):c.4164G>A (p.Val1388=)
|
|
|
NM_025137.4(SPG11):c.4164G>C (p.Val1388=)
|
|
|
NM_025137.4(SPG11):c.419del (p.Lys140fs)
|
|
|
NM_025137.4(SPG11):c.420G>A (p.Lys140=)
|
rs1048849923
|
|
NM_025137.4(SPG11):c.42C>A (p.Gly14=)
|
rs376542524
|
|
NM_025137.4(SPG11):c.42C>G (p.Gly14=)
|
|
|
NM_025137.4(SPG11):c.42C>T (p.Gly14=)
|
|
|
NM_025137.4(SPG11):c.430G>A (p.Asp144Asn)
|
|
|
NM_025137.4(SPG11):c.430G>T (p.Asp144Tyr)
|
rs747312770
|
|
NM_025137.4(SPG11):c.4319A>T (p.Asp1440Val)
|
rs2140971917
|
|
NM_025137.4(SPG11):c.4325T>C (p.Phe1442Ser)
|
rs2140971902
|
|
NM_025137.4(SPG11):c.4327G>A (p.Glu1443Lys)
|
rs1338577311
|
|
NM_025137.4(SPG11):c.4335G>A (p.Leu1445=)
|
|
|
NM_025137.4(SPG11):c.4338C>T (p.Leu1446=)
|
rs1016759628
|
|
NM_025137.4(SPG11):c.4339C>T (p.Gln1447Ter)
|
|
|
NM_025137.4(SPG11):c.4339_4346del (p.Gln1447fs)
|
|
|
NM_025137.4(SPG11):c.433dup (p.Gln145fs)
|
rs780266075
|
|
NM_025137.4(SPG11):c.4341A>G (p.Gln1447=)
|
rs369058599
|
|
NM_025137.4(SPG11):c.434A>G (p.Gln145Arg)
|
rs780634621
|
|
NM_025137.4(SPG11):c.4353G>A (p.Glu1451=)
|
|
|
NM_025137.4(SPG11):c.4356A>C (p.Pro1452=)
|
|
|
NM_025137.4(SPG11):c.435A>C (p.Gln145His)
|
|
|
NM_025137.4(SPG11):c.4363T>A (p.Trp1455Arg)
|
|
|
NM_025137.4(SPG11):c.4365G>A (p.Trp1455Ter)
|
rs138103656
|
|
NM_025137.4(SPG11):c.4371G>A (p.Trp1457Ter)
|
rs886819382
|
|
NM_025137.4(SPG11):c.437A>C (p.Asp146Ala)
|
rs182535774
|
|
NM_025137.4(SPG11):c.437A>G (p.Asp146Gly)
|
rs182535774
|
|
NM_025137.4(SPG11):c.4383A>G (p.Glu1461=)
|
rs764466777
|
|
NM_025137.4(SPG11):c.4384G>A (p.Ala1462Thr)
|
rs2140971741
|
|
NM_025137.4(SPG11):c.4389G>C (p.Val1463=)
|
|
|
NM_025137.4(SPG11):c.438T>C (p.Asp146=)
|
|
|
NM_025137.4(SPG11):c.4392A>G (p.Lys1464=)
|
|
|
NM_025137.4(SPG11):c.4396C>T (p.Gln1466Ter)
|
rs2083030924
|
|
NM_025137.4(SPG11):c.4401C>T (p.Ala1467=)
|
rs1266766497
|
|
NM_025137.4(SPG11):c.4402C>G (p.Pro1468Ala)
|
rs2083030697
|
|
NM_025137.4(SPG11):c.4404T>G (p.Pro1468=)
|
rs2140971681
|
|
NM_025137.4(SPG11):c.4406_4407insTA (p.Leu1470fs)
|
rs2140971667
|
|
NM_025137.4(SPG11):c.440T>C (p.Ile147Thr)
|
rs547491883
|
|
NM_025137.4(SPG11):c.440T>G (p.Ile147Ser)
|
rs547491883
|
|
NM_025137.4(SPG11):c.4417C>G (p.Leu1473Val)
|
rs2140971629
|
|
NM_025137.4(SPG11):c.4418T>G (p.Leu1473Arg)
|
|
|
NM_025137.4(SPG11):c.4419G>A (p.Leu1473=)
|
|
|
NM_025137.4(SPG11):c.442+12C>T
|
|
|
NM_025137.4(SPG11):c.442+15G>T
|
|
|
NM_025137.4(SPG11):c.442+17G>A
|
rs2141129638
|
|
NM_025137.4(SPG11):c.442+1G>A
|
|
|
NM_025137.4(SPG11):c.442+1G>C
|
rs312262715
|
|
NM_025137.4(SPG11):c.442+20C>T
|
|
|
NM_025137.4(SPG11):c.442+4_442+7del
|
|
|
NM_025137.4(SPG11):c.442+5G>A
|
rs752482400
|
|
NM_025137.4(SPG11):c.442+5G>T
|
rs752482400
|
|
NM_025137.4(SPG11):c.442+9C>A
|
rs2141129671
|
|
NM_025137.4(SPG11):c.4421C>T (p.Ala1474Val)
|
|
|
NM_025137.4(SPG11):c.443-12T>A
|
|
|
NM_025137.4(SPG11):c.443-13T>G
|
|
|
NM_025137.4(SPG11):c.443-14C>T
|
|
|
NM_025137.4(SPG11):c.443-1G>A
|
rs1040633382
|
|
NM_025137.4(SPG11):c.443-20A>T
|
rs2141126904
|
|
NM_025137.4(SPG11):c.443-2A>T
|
|
|
NM_025137.4(SPG11):c.443-5T>C
|
|
|
NM_025137.4(SPG11):c.443-5del
|
|
|
NM_025137.4(SPG11):c.443-6T>C
|
rs754758152
|
|
NM_025137.4(SPG11):c.4431C>T (p.Leu1477=)
|
|
|
NM_025137.4(SPG11):c.4432C>T (p.Gln1478Ter)
|
rs2140971559
|
|
NM_025137.4(SPG11):c.4434+10A>G
|
|
|
NM_025137.4(SPG11):c.4434+15A>G
|
|
|
NM_025137.4(SPG11):c.4434+1G>A
|
rs1567148391
|
|
NM_025137.4(SPG11):c.4434+3G>A
|
|
|
NM_025137.4(SPG11):c.4434+6_4434+7insGT
|
rs1374893382
|
|
NM_025137.4(SPG11):c.4434+8T>A
|
|
|
NM_025137.4(SPG11):c.4435-2A>G
|
rs1555450825
|
|
NM_025137.4(SPG11):c.4435-3C>T
|
rs1555450826
|
|
NM_025137.4(SPG11):c.4435-7G>A
|
rs199685245
|
|
NM_025137.4(SPG11):c.4435-7G>C
|
|
|
NM_025137.4(SPG11):c.4435-7G>T
|
|
|
NM_025137.4(SPG11):c.4436G>A (p.Gly1479Asp)
|
rs374303102
|
|
NM_025137.4(SPG11):c.4436G>T (p.Gly1479Val)
|
|
|
NM_025137.4(SPG11):c.4440C>T (p.Ala1480=)
|
|
|
NM_025137.4(SPG11):c.4442G>C (p.Ser1481Thr)
|
|
|
NM_025137.4(SPG11):c.4453T>C (p.Cys1485Arg)
|
|
|
NM_025137.4(SPG11):c.4453_4458delinsGAGGCCAGAACACTGAGGATAGGGGCCTGTTGTTTCACTGCTTCAACCAGAAGCCAGTGCCAGGAGTCTGGCTCCTCTGAGCATTGGAGCAGAATTTCAAATAAATCGGTCATCTCTTGTTTGCTTCCTTGAAGTTCCTGGGGGCACTTATTGCAGACTTGATCGCTGTCCATTTTGGAGGTGGGCACTGAGGGCAAGTTCTCAAAAGCCAGCCTTAAGTGGTCTTGAATGACTGGGCTGAAGTACTGGATAAGGGATTTCACCTAGAAGGCATATCAGATGATTAAACAGAAACCCAACTTTCAGTTTCAGCTGGAGCTGAAAATGTTAGAGAAAAGCATAGACAAAATTATGCTTTCTCACCCTGAACTAAGTCAGAGTGACTATTATGTAATTTTACAAAGCTGTA (p.Cys1485_Leu1486delinsGluAlaArgThrLeuArgIleGlyAlaCysCysPheThrAlaSerThrArgSerGlnCysGlnGluSerGlySerSerGluHisTrpSerArgIleSerAsnLysSerValIleSerCysLeuLeuProTer)
|
|
|
NM_025137.4(SPG11):c.4455T>G (p.Cys1485Trp)
|
rs2083010716
|
|
NM_025137.4(SPG11):c.4456C>A (p.Leu1486Ile)
|
rs2083010648
|
|
NM_025137.4(SPG11):c.4462_4463del (p.Val1488fs)
|
rs587777921
|
|
NM_025137.4(SPG11):c.446T>A (p.Ile149Asn)
|
rs1595938156
|
|
NM_025137.4(SPG11):c.4473C>T (p.Ile1491=)
|
rs2083009929
|
|
NM_025137.4(SPG11):c.4476T>C (p.Thr1492=)
|
|
|
NM_025137.4(SPG11):c.4487A>T (p.Asp1496Val)
|
rs2140970008
|
|
NM_025137.4(SPG11):c.4494T>C (p.Val1498=)
|
|
|
NM_025137.4(SPG11):c.4498A>T (p.Thr1500Ser)
|
rs758867131
|
|
NM_025137.4(SPG11):c.449C>T (p.Ser150Phe)
|
rs2085034168
|
|
NM_025137.4(SPG11):c.4500T>C (p.Thr1500=)
|
|
|
NM_025137.4(SPG11):c.4507A>G (p.Met1503Val)
|
|
|
NM_025137.4(SPG11):c.4520A>G (p.Gln1507Arg)
|
rs1267260382
|
|
NM_025137.4(SPG11):c.4529C>T (p.Thr1510Ile)
|
|
|
NM_025137.4(SPG11):c.4534dup (p.Asp1512fs)
|
|
|
NM_025137.4(SPG11):c.4548C>T (p.Asn1516=)
|
|
|
NM_025137.4(SPG11):c.4549C>G (p.Leu1517Val)
|
rs942704467
|
|
NM_025137.4(SPG11):c.454T>A (p.Leu152Met)
|
|
|
NM_025137.4(SPG11):c.4562C>G (p.Ser1521Ter)
|
rs1337761270
|
|
NM_025137.4(SPG11):c.4566C>T (p.Val1522=)
|
|
|
NM_025137.4(SPG11):c.458C>T (p.Ser153Phe)
|
|
|
NM_025137.4(SPG11):c.4591C>T (p.Gln1531Ter)
|
rs1362530862
|
|
NM_025137.4(SPG11):c.4592A>C (p.Gln1531Pro)
|
rs2140969699
|
|
NM_025137.4(SPG11):c.4593A>G (p.Gln1531=)
|
|
|
NM_025137.4(SPG11):c.4598G>A (p.Ser1533Asn)
|
|
|
NM_025137.4(SPG11):c.4599C>G (p.Ser1533Arg)
|
rs758762845
|
|
NM_025137.4(SPG11):c.4599C>T (p.Ser1533=)
|
rs758762845
|
|
NM_025137.4(SPG11):c.459T>C (p.Ser153=)
|
rs2141126737
|
|
NM_025137.4(SPG11):c.45T>A (p.Gly15=)
|
|
|
NM_025137.4(SPG11):c.4608C>A (p.Leu1536=)
|
|
|
NM_025137.4(SPG11):c.460_461del (p.Leu154fs)
|
rs1595938132
|
|
NM_025137.4(SPG11):c.4621C>T (p.Gln1541Ter)
|
rs2140969609
|
|
NM_025137.4(SPG11):c.4625T>G (p.Leu1542Arg)
|
rs2083005246
|
|
NM_025137.4(SPG11):c.4632T>C (p.Phe1544=)
|
|
|
NM_025137.4(SPG11):c.4635+15T>C
|
rs1372156068
|
|
NM_025137.4(SPG11):c.4635+19C>T
|
|
|
NM_025137.4(SPG11):c.4635+7A>G
|
|
|
NM_025137.4(SPG11):c.4636-11C>G
|
|
|
NM_025137.4(SPG11):c.4636-11_4636-10del
|
rs765481566
|
|
NM_025137.4(SPG11):c.4636-18T>C
|
|
|
NM_025137.4(SPG11):c.4636-19T>C
|
|
|
NM_025137.4(SPG11):c.4636-20T>A
|
|
|
NM_025137.4(SPG11):c.4636-3A>G
|
rs1433545924
|
|
NM_025137.4(SPG11):c.4637_4638insATC (p.Asp1546delinsGluSer)
|
rs1595855150
|
|
NM_025137.4(SPG11):c.4644G>A (p.Pro1548=)
|
|
|
NM_025137.4(SPG11):c.4644G>T (p.Pro1548=)
|
rs1021717728
|
|
NM_025137.4(SPG11):c.4647A>G (p.Leu1549=)
|
|
|
NM_025137.4(SPG11):c.4648C>T (p.Leu1550=)
|
|
|
NM_025137.4(SPG11):c.4650A>G (p.Leu1550=)
|
rs2140963415
|
|
NM_025137.4(SPG11):c.4651C>A (p.Leu1551Met)
|
rs1595855125
|
|
NM_025137.4(SPG11):c.4659G>A (p.Met1553Ile)
|
|
|
NM_025137.4(SPG11):c.4661A>C (p.Glu1554Ala)
|
rs2082925039
|
|
NM_025137.4(SPG11):c.4664T>C (p.Met1555Thr)
|
rs2140963348
|
|
NM_025137.4(SPG11):c.4668T>A (p.Tyr1556Ter)
|
rs312262761
|
|
NM_025137.4(SPG11):c.4672C>T (p.Leu1558=)
|
rs2140963298
|
|
NM_025137.4(SPG11):c.4673del (p.Leu1558fs)
|
rs2140963289
|
|
NM_025137.4(SPG11):c.4675T>C (p.Cys1559Arg)
|
|
|
NM_025137.4(SPG11):c.4675T>G (p.Cys1559Gly)
|
rs757658545
|
|
NM_025137.4(SPG11):c.4676G>T (p.Cys1559Phe)
|
|
|
NM_025137.4(SPG11):c.4680G>A (p.Met1560Ile)
|
rs1281792255
|
|
NM_025137.4(SPG11):c.4699_4700del (p.Glu1567fs)
|
rs2082923260
|
|
NM_025137.4(SPG11):c.4708G>C (p.Ala1570Pro)
|
rs2082922918
|
|
NM_025137.4(SPG11):c.4717C>G (p.Leu1573Val)
|
rs560868702
|
|
NM_025137.4(SPG11):c.4717C>T (p.Leu1573=)
|
rs560868702
|
|
NM_025137.4(SPG11):c.4718T>C (p.Leu1573Pro)
|
|
|
NM_025137.4(SPG11):c.4725dup (p.Gln1576fs)
|
|
|
NM_025137.4(SPG11):c.4740_4743dup (p.Leu1582fs)
|
|
|
NM_025137.4(SPG11):c.4743+15T>C
|
|
|
NM_025137.4(SPG11):c.4743+17G>C
|
|
|
NM_025137.4(SPG11):c.4743+18T>C
|
|
|
NM_025137.4(SPG11):c.4743+19G>C
|
|
|
NM_025137.4(SPG11):c.4743+204dup
|
rs1198260134
|
|
NM_025137.4(SPG11):c.4743+220del
|
rs1198260134
|
|
NM_025137.4(SPG11):c.4743+71T>G
|
rs116323165
|
|
NM_025137.4(SPG11):c.4743+8G>A
|
rs2140963061
|
|
NM_025137.4(SPG11):c.4743+9G>C
|
|
|
NM_025137.4(SPG11):c.4743+9del
|
|
|
NM_025137.4(SPG11):c.4744-11T>C
|
|
|
NM_025137.4(SPG11):c.4744-15C>G
|
|
|
NM_025137.4(SPG11):c.4744-20C>T
|
|
|
NM_025137.4(SPG11):c.4744-7T>G
|
|
|
NM_025137.4(SPG11):c.4746T>G (p.Leu1582=)
|
rs1595851030
|
|
NM_025137.4(SPG11):c.4753_4761del (p.Ala1585_Thr1587del)
|
rs2082846485
|
|
NM_025137.4(SPG11):c.4756G>A (p.Ala1586Thr)
|
|
|
NM_025137.4(SPG11):c.4758C>A (p.Ala1586=)
|
|
|
NM_025137.4(SPG11):c.4761A>G (p.Thr1587=)
|
|
|
NM_025137.4(SPG11):c.4768del (p.His1590fs)
|
|
|
NM_025137.4(SPG11):c.4773dup (p.Val1592fs)
|
rs1064795062
|
|
NM_025137.4(SPG11):c.4777del (p.Ile1593fs)
|
rs1064797055
|
|
NM_025137.4(SPG11):c.4780C>G (p.Pro1594Ala)
|
rs771186100
|
|
NM_025137.4(SPG11):c.4798dup (p.Asp1600fs)
|
|
|
NM_025137.4(SPG11):c.479A>G (p.His160Arg)
|
|
|
NM_025137.4(SPG11):c.4804G>A (p.Val1602Met)
|
rs754536969
|
|
NM_025137.4(SPG11):c.4804G>T (p.Val1602Leu)
|
rs754536969
|
|
NM_025137.4(SPG11):c.4805T>A (p.Val1602Glu)
|
rs1452836790
|
|
NM_025137.4(SPG11):c.4811dup (p.Leu1605fs)
|
rs760618394
|
|
NM_025137.4(SPG11):c.4813del (p.Leu1605fs)
|
rs2082844329
|
|
NM_025137.4(SPG11):c.4814T>G (p.Leu1605Arg)
|
rs1260241430
|
|
NM_025137.4(SPG11):c.4817del (p.Leu1605_Leu1606insTer)
|
|
|
NM_025137.4(SPG11):c.4820A>G (p.Lys1607Arg)
|
rs2082844140
|
|
NM_025137.4(SPG11):c.4824T>C (p.Leu1608=)
|
|
|
NM_025137.4(SPG11):c.4826T>C (p.Met1609Thr)
|
rs2140956945
|
|
NM_025137.4(SPG11):c.482A>G (p.Asn161Ser)
|
|
|
NM_025137.4(SPG11):c.4830dup (p.Gln1611fs)
|
|
|
NM_025137.4(SPG11):c.4834C>T (p.Gln1612Ter)
|
|
|
NM_025137.4(SPG11):c.4836G>A (p.Gln1612=)
|
|
|
NM_025137.4(SPG11):c.4837T>G (p.Cys1613Gly)
|
|
|
NM_025137.4(SPG11):c.4846C>T (p.Gln1616Ter)
|
rs312262762
|
|
NM_025137.4(SPG11):c.4851T>C (p.Tyr1617=)
|
|
|
NM_025137.4(SPG11):c.4852G>T (p.Glu1618Ter)
|
rs2082843264
|
|
NM_025137.4(SPG11):c.4860dup (p.Lys1621fs)
|
rs1418873962
|
|
NM_025137.4(SPG11):c.4870C>T (p.Gln1624Ter)
|
|
|
NM_025137.4(SPG11):c.4871del (p.Gln1624fs)
|
|
|
NM_025137.4(SPG11):c.4874dup (p.Phe1626fs)
|
|
|
NM_025137.4(SPG11):c.4875C>G (p.Leu1625=)
|
rs751776468
|
|
NM_025137.4(SPG11):c.4877_4878del (p.Phe1626fs)
|
rs2082842632
|
|
NM_025137.4(SPG11):c.4888G>C (p.Glu1630Gln)
|
rs368276916
|
|
NM_025137.4(SPG11):c.4896C>G (p.Leu1632=)
|
rs938056721
|
|
NM_025137.4(SPG11):c.48C>G (p.Ser16Arg)
|
|
|
NM_025137.4(SPG11):c.4904A>G (p.Asp1635Gly)
|
|
|
NM_025137.4(SPG11):c.4906+11C>G
|
|
|
NM_025137.4(SPG11):c.4906+17A>G
|
|
|
NM_025137.4(SPG11):c.4906+1G>A
|
rs1567142780
|
|
NM_025137.4(SPG11):c.4906+2T>C
|
|
|
NM_025137.4(SPG11):c.4906+4_4906+6dup
|
|
|
NM_025137.4(SPG11):c.4907-10_4911del
|
rs2082751022
|
|
NM_025137.4(SPG11):c.4907-154_4907-153dup
|
rs71111868
|
|
NM_025137.4(SPG11):c.4907-154dup
|
rs71111868
|
|
NM_025137.4(SPG11):c.4907-193C>T
|
rs117309433
|
|
NM_025137.4(SPG11):c.4907-2A>C
|
|
|
NM_025137.4(SPG11):c.4907-5C>T
|
rs531032784
|
|
NM_025137.4(SPG11):c.490T>C (p.Ser164Pro)
|
rs2141126628
|
|
NM_025137.4(SPG11):c.4911A>G (p.Pro1637=)
|
|
|
NM_025137.4(SPG11):c.4915G>A (p.Val1639Met)
|
|
|
NM_025137.4(SPG11):c.4920A>G (p.Lys1640=)
|
rs2140950308
|
|
NM_025137.4(SPG11):c.4923G>A (p.Lys1641=)
|
rs150218102
|
|
NM_025137.4(SPG11):c.4930A>G (p.Ile1644Val)
|
rs1240092659
|
|
NM_025137.4(SPG11):c.4932C>T (p.Ile1644=)
|
|
|
NM_025137.4(SPG11):c.4941G>A (p.Gln1647=)
|
|
|
NM_025137.4(SPG11):c.4950G>A (p.Lys1650=)
|
|
|
NM_025137.4(SPG11):c.4955C>A (p.Thr1652Lys)
|
|
|
NM_025137.4(SPG11):c.4955C>G (p.Thr1652Arg)
|
rs2082749902
|
|
NM_025137.4(SPG11):c.4956A>T (p.Thr1652=)
|
|
|
NM_025137.4(SPG11):c.4959C>T (p.Ser1653=)
|
|
|
NM_025137.4(SPG11):c.496C>T (p.Leu166=)
|
rs372037097
|
|
NM_025137.4(SPG11):c.4973A>G (p.His1658Arg)
|
|
|
NM_025137.4(SPG11):c.4982T>C (p.Ile1661Thr)
|
|
|
NM_025137.4(SPG11):c.4985C>A (p.Thr1662Asn)
|
|
|
NM_025137.4(SPG11):c.4G>A (p.Ala2Thr)
|
rs1566838999
|
|
NM_025137.4(SPG11):c.5001G>T (p.Glu1667Asp)
|
rs1595845664
|
|
NM_025137.4(SPG11):c.5014G>T (p.Glu1672Ter)
|
|
|
NM_025137.4(SPG11):c.5017T>C (p.Cys1673Arg)
|
|
|
NM_025137.4(SPG11):c.501C>G (p.Phe167Leu)
|
rs771462279
|
|
NM_025137.4(SPG11):c.5031G>A (p.Leu1677=)
|
|
|
NM_025137.4(SPG11):c.5032G>A (p.Glu1678Lys)
|
|
|
NM_025137.4(SPG11):c.5032G>T (p.Glu1678Ter)
|
rs1277084672
|
|
NM_025137.4(SPG11):c.5047G>A (p.Asp1683Asn)
|
|
|
NM_025137.4(SPG11):c.5052A>G (p.Gly1684=)
|
|
|
NM_025137.4(SPG11):c.5052A>T (p.Gly1684=)
|
|
|
NM_025137.4(SPG11):c.5055A>G (p.Gln1685=)
|
rs758497624
|
|
NM_025137.4(SPG11):c.5055A>T (p.Gln1685His)
|
|
|
NM_025137.4(SPG11):c.5058_5061del (p.Ala1687fs)
|
|
|
NM_025137.4(SPG11):c.5073G>A (p.Arg1691=)
|
rs2082747265
|
|
NM_025137.4(SPG11):c.5076A>T (p.Val1692=)
|
|
|
NM_025137.4(SPG11):c.5086G>A (p.Ala1696Thr)
|
rs2140949961
|
|
NM_025137.4(SPG11):c.5087C>G (p.Ala1696Gly)
|
|
|
NM_025137.4(SPG11):c.5091G>A (p.Glu1697=)
|
|
|
NM_025137.4(SPG11):c.5093T>A (p.Leu1698Ter)
|
rs1462607878
|
|
NM_025137.4(SPG11):c.50G>A (p.Trp17Ter)
|
rs1339135039
|
|
NM_025137.4(SPG11):c.5106C>G (p.Asn1702Lys)
|
rs762524521
|
|
NM_025137.4(SPG11):c.5109G>A (p.Leu1703=)
|
|
|
NM_025137.4(SPG11):c.5109_5115dup (p.Lys1706delinsGlyTyrTer)
|
|
|
NM_025137.4(SPG11):c.5110G>A (p.Val1704Ile)
|
rs931856984
|
|
NM_025137.4(SPG11):c.5110G>T (p.Val1704Phe)
|
rs931856984
|
|
NM_025137.4(SPG11):c.5115T>C (p.Ile1705=)
|
|
|
NM_025137.4(SPG11):c.5117_5118del (p.Lys1706fs)
|
|
|
NM_025137.4(SPG11):c.5121+10G>A
|
|
|
NM_025137.4(SPG11):c.5121+10G>T
|
|
|
NM_025137.4(SPG11):c.5121+11T>C
|
|
|
NM_025137.4(SPG11):c.5121+121A>G
|
rs534150787
|
|
NM_025137.4(SPG11):c.5121+12C>A
|
|
|
NM_025137.4(SPG11):c.5121+12C>T
|
rs199766848
|
|
NM_025137.4(SPG11):c.5121+12del
|
|
|
NM_025137.4(SPG11):c.5121+13T>C
|
|
|
NM_025137.4(SPG11):c.5121+13_5121+14dup
|
rs34800368
|
|
NM_025137.4(SPG11):c.5121+13_5121+15dup
|
rs34800368
|
|
NM_025137.4(SPG11):c.5121+13_5121+17dup
|
rs34800368
|
|
NM_025137.4(SPG11):c.5121+13dup
|
rs34800368
|
|
NM_025137.4(SPG11):c.5121+15T>C
|
rs1567139953
|
|
NM_025137.4(SPG11):c.5121+185_5121+186dup
|
rs67858533
|
|
NM_025137.4(SPG11):c.5121+185dup
|
rs67858533
|
|
NM_025137.4(SPG11):c.5121+2T>G
|
|
|
NM_025137.4(SPG11):c.5121+32_5121+33del
|
rs34800368
|
|
NM_025137.4(SPG11):c.5121+33del
|
rs34800368
|
|
NM_025137.4(SPG11):c.5121+4T>C
|
|
|
NM_025137.4(SPG11):c.5121+7_5121+9del
|
rs1567139976
|
|
NM_025137.4(SPG11):c.5121+8C>A
|
rs779071284
|
|
NM_025137.4(SPG11):c.5121+8C>T
|
rs779071284
|
|
NM_025137.4(SPG11):c.5121+8_5121+9insTCT
|
rs1555449193
|
|
NM_025137.4(SPG11):c.5121+9G>A
|
|
|
NM_025137.4(SPG11):c.5122-12T>G
|
|
|
NM_025137.4(SPG11):c.5122-18C>T
|
|
|
NM_025137.4(SPG11):c.5122-1G>A
|
rs2140947703
|
|
NM_025137.4(SPG11):c.5122-5C>A
|
rs749419579
|
|
NM_025137.4(SPG11):c.5122-5C>T
|
rs749419579
|
|
NM_025137.4(SPG11):c.5122-6T>C
|
rs2140947711
|
|
NM_025137.4(SPG11):c.5122-6del
|
rs1379359957
|
|
NM_025137.4(SPG11):c.5135T>G (p.Met1712Arg)
|
rs1555448989
|
|
NM_025137.4(SPG11):c.5136G>A (p.Met1712Ile)
|
|
|
NM_025137.4(SPG11):c.5148dup (p.His1717fs)
|
rs1422477670
|
|
NM_025137.4(SPG11):c.5150A>G (p.His1717Arg)
|
|
|
NM_025137.4(SPG11):c.5161_5176del (p.Trp1721fs)
|
|
|
NM_025137.4(SPG11):c.5167C>T (p.Leu1723=)
|
|
|
NM_025137.4(SPG11):c.5172A>G (p.Lys1724=)
|
rs748433681
|
|
NM_025137.4(SPG11):c.5175del (p.Ala1726fs)
|
rs1060499768
|
|
NM_025137.4(SPG11):c.5175dup (p.Ala1726fs)
|
|
|
NM_025137.4(SPG11):c.5177C>G (p.Ala1726Gly)
|
rs1252919994
|
|
NM_025137.4(SPG11):c.5193G>A (p.Trp1731Ter)
|
|
|
NM_025137.4(SPG11):c.5199del (p.Lys1733fs)
|
rs779268551
|
|
NM_025137.4(SPG11):c.5199dup (p.Cys1734fs)
|
|
|
NM_025137.4(SPG11):c.5208G>T (p.Glu1736Asp)
|
rs2082717835
|
|
NM_025137.4(SPG11):c.5211T>A (p.Asn1737Lys)
|
rs1024346199
|
|
NM_025137.4(SPG11):c.5211T>C (p.Asn1737=)
|
rs1024346199
|
|
NM_025137.4(SPG11):c.5215A>C (p.Lys1739Gln)
|
|
|
NM_025137.4(SPG11):c.5220_5224del (p.Lys1740fs)
|
|
|
NM_025137.4(SPG11):c.5227A>G (p.Ile1743Val)
|
rs1419267108
|
|
NM_025137.4(SPG11):c.5234G>A (p.Ser1745Asn)
|
|
|
NM_025137.4(SPG11):c.524A>G (p.His175Arg)
|
rs895170417
|
|
NM_025137.4(SPG11):c.527T>C (p.Ile176Thr)
|
rs2085031500
|
|
NM_025137.4(SPG11):c.528T>G (p.Ile176Met)
|
|
|
NM_025137.4(SPG11):c.5290dup (p.Thr1764fs)
|
|
|
NM_025137.4(SPG11):c.5294G>A (p.Gly1765Glu)
|
|
|
NM_025137.4(SPG11):c.529A>G (p.Ile177Val)
|
|
|
NM_025137.4(SPG11):c.529_533del (p.Ile177fs)
|
rs312262716
|
|
NM_025137.4(SPG11):c.5301C>G (p.Ser1767Arg)
|
|
|
NM_025137.4(SPG11):c.5301C>T (p.Ser1767=)
|
rs2082715269
|
|
NM_025137.4(SPG11):c.5303G>A (p.Ser1768Asn)
|
|
|
NM_025137.4(SPG11):c.5305_5316del (p.Met1769_Arg1772del)
|
rs2140947284
|
|
NM_025137.4(SPG11):c.530T>C (p.Ile177Thr)
|
|
|
NM_025137.4(SPG11):c.5314C>T (p.Arg1772Cys)
|
|
|
NM_025137.4(SPG11):c.5316C>T (p.Arg1772=)
|
|
|
NM_025137.4(SPG11):c.5322G>A (p.Leu1774=)
|
|
|
NM_025137.4(SPG11):c.5326C>T (p.Leu1776Phe)
|
|
|
NM_025137.4(SPG11):c.5328C>T (p.Leu1776=)
|
|
|
NM_025137.4(SPG11):c.5330C>G (p.Thr1777Ser)
|
|
|
NM_025137.4(SPG11):c.5334G>A (p.Leu1778=)
|
rs369354037
|
|
NM_025137.4(SPG11):c.5335del (p.Ala1779fs)
|
|
|
NM_025137.4(SPG11):c.5337A>G (p.Ala1779=)
|
|
|
NM_025137.4(SPG11):c.5340G>A (p.Gly1780=)
|
|
|
NM_025137.4(SPG11):c.5354A>C (p.Gln1785Pro)
|
rs1050403502
|
|
NM_025137.4(SPG11):c.5367G>A (p.Val1789=)
|
|
|
NM_025137.4(SPG11):c.5370C>T (p.Pro1790=)
|
|
|
NM_025137.4(SPG11):c.5371T>C (p.Leu1791=)
|
rs2140947185
|
|
NM_025137.4(SPG11):c.5374G>A (p.Asp1792Asn)
|
|
|
NM_025137.4(SPG11):c.5386_5394del (p.Glu1796_Glu1798del)
|
rs765129142
|
|
NM_025137.4(SPG11):c.5386_5394dup (p.Glu1798_Lys1799insGluLeuGlu)
|
|
|
NM_025137.4(SPG11):c.5391G>A (p.Leu1797=)
|
|
|
NM_025137.4(SPG11):c.5396A>G (p.Lys1799Arg)
|
|
|
NM_025137.4(SPG11):c.5397G>T (p.Lys1799Asn)
|
|
|
NM_025137.4(SPG11):c.5398C>T (p.Gln1800Ter)
|
rs1287370710
|
|
NM_025137.4(SPG11):c.5399_5402delinsTGGAGGAG (p.Gln1800fs)
|
rs312262765
|
|
NM_025137.4(SPG11):c.53dup (p.Thr19fs)
|
|
|
NM_025137.4(SPG11):c.5402T>A (p.Ile1801Asn)
|
|
|
NM_025137.4(SPG11):c.5403C>A (p.Ile1801=)
|
|
|
NM_025137.4(SPG11):c.5409G>A (p.Leu1803=)
|
|
|
NM_025137.4(SPG11):c.5410_5411del (p.Cys1804fs)
|
rs312262766
|
|
NM_025137.4(SPG11):c.5413C>T (p.Arg1805Cys)
|
|
|
NM_025137.4(SPG11):c.5414G>C (p.Arg1805Pro)
|
|
|
NM_025137.4(SPG11):c.541A>C (p.Arg181=)
|
|
|
NM_025137.4(SPG11):c.5422C>T (p.Gln1808Ter)
|
|
|
NM_025137.4(SPG11):c.5426A>G (p.His1809Arg)
|
rs1555448900
|
|
NM_025137.4(SPG11):c.5428A>T (p.Thr1810Ser)
|
rs1404988525
|
|
NM_025137.4(SPG11):c.5432T>C (p.Leu1811Pro)
|
|
|
NM_025137.4(SPG11):c.5433T>C (p.Leu1811=)
|
|
|
NM_025137.4(SPG11):c.5437A>G (p.Arg1813Gly)
|
rs1595843157
|
|
NM_025137.4(SPG11):c.5440A>T (p.Asn1814Tyr)
|
rs1567138592
|
|
NM_025137.4(SPG11):c.5443C>T (p.Gln1815Ter)
|
|
|
NM_025137.4(SPG11):c.5450A>G (p.Glu1817Gly)
|
rs2082711302
|
|
NM_025137.4(SPG11):c.5453C>G (p.Thr1818Arg)
|
rs2140946992
|
|
NM_025137.4(SPG11):c.5454A>G (p.Thr1818=)
|
rs2140946988
|
|
NM_025137.4(SPG11):c.545A>C (p.Asp182Ala)
|
rs143636318
|
|
NM_025137.4(SPG11):c.545A>T (p.Asp182Val)
|
|
|
NM_025137.4(SPG11):c.5462G>A (p.Arg1821Lys)
|
rs777449266
|
|
NM_025137.4(SPG11):c.5465_5477del (p.Phe1822fs)
|
rs1567138536
|
|
NM_025137.4(SPG11):c.5473C>T (p.Gln1825Ter)
|
rs2140946934
|
|
NM_025137.4(SPG11):c.5476A>G (p.Ile1826Val)
|
rs1251056690
|
|
NM_025137.4(SPG11):c.5482A>G (p.Thr1828Ala)
|
rs2082710576
|
|
NM_025137.4(SPG11):c.5489G>C (p.Gly1830Ala)
|
rs529748787
|
|
NM_025137.4(SPG11):c.5492A>G (p.Glu1831Gly)
|
rs2140946907
|
|
NM_025137.4(SPG11):c.5497T>C (p.Ser1833Pro)
|
rs766375553
|
|
NM_025137.4(SPG11):c.5497T>G (p.Ser1833Ala)
|
rs766375553
|
|
NM_025137.4(SPG11):c.5499C>G (p.Ser1833=)
|
rs2140946879
|
|
NM_025137.4(SPG11):c.54C>A (p.Gly18=)
|
|
|
NM_025137.4(SPG11):c.54C>T (p.Gly18=)
|
|
|
NM_025137.4(SPG11):c.5512G>C (p.Ala1838Pro)
|
rs761774708
|
|
NM_025137.4(SPG11):c.5528T>C (p.Phe1843Ser)
|
|
|
NM_025137.4(SPG11):c.5528del (p.Phe1843fs)
|
|
|
NM_025137.4(SPG11):c.5529C>T (p.Phe1843=)
|
|
|
NM_025137.4(SPG11):c.5532_5533del (p.Lys1845fs)
|
rs312262768
|
|
NM_025137.4(SPG11):c.5536T>C (p.Leu1846=)
|
|
|
NM_025137.4(SPG11):c.5537T>C (p.Leu1846Ser)
|
rs760831525
|
|
NM_025137.4(SPG11):c.5551A>C (p.Thr1851Pro)
|
|
|
NM_025137.4(SPG11):c.5553A>G (p.Thr1851=)
|
|
|
NM_025137.4(SPG11):c.5553A>T (p.Thr1851=)
|
|
|
NM_025137.4(SPG11):c.5557A>G (p.Lys1853Glu)
|
|
|
NM_025137.4(SPG11):c.5565A>G (p.Leu1855=)
|
|
|
NM_025137.4(SPG11):c.5566G>C (p.Glu1856Gln)
|
|
|
NM_025137.4(SPG11):c.5570T>G (p.Leu1857Arg)
|
rs1425480106
|
|
NM_025137.4(SPG11):c.5570delinsGTTC (p.Leu1857delinsArgSer)
|
|
|
NM_025137.4(SPG11):c.5571_5572insTCT (p.Leu1857_Asn1858insSer)
|
rs1185237931
|
|
NM_025137.4(SPG11):c.5583A>C (p.Pro1861=)
|
|
|
NM_025137.4(SPG11):c.5592_5593del (p.Glu1864fs)
|
|
|
NM_025137.4(SPG11):c.5595A>C (p.Thr1865=)
|
|
|
NM_025137.4(SPG11):c.5596T>C (p.Cys1866Arg)
|
|
|
NM_025137.4(SPG11):c.5598C>A (p.Cys1866Ter)
|
|
|
NM_025137.4(SPG11):c.5604T>C (p.Asn1868=)
|
|
|
NM_025137.4(SPG11):c.5607del (p.Arg1869fs)
|
|
|
NM_025137.4(SPG11):c.560T>C (p.Val187Ala)
|
rs2085030329
|
|
NM_025137.4(SPG11):c.5615G>C (p.Trp1872Ser)
|
rs1567138385
|
|
NM_025137.4(SPG11):c.5618A>G (p.Lys1873Arg)
|
|
|
NM_025137.4(SPG11):c.5628G>A (p.Glu1876=)
|
rs758313148
|
|
NM_025137.4(SPG11):c.5630C>T (p.Ser1877Leu)
|
|
|
NM_025137.4(SPG11):c.5634A>C (p.Leu1878=)
|
|
|
NM_025137.4(SPG11):c.5634A>G (p.Leu1878=)
|
|
|
NM_025137.4(SPG11):c.5641T>C (p.Leu1881=)
|
|
|
NM_025137.4(SPG11):c.5644A>T (p.Ile1882Phe)
|
rs200645188
|
|
NM_025137.4(SPG11):c.5645T>G (p.Ile1882Ser)
|
|
|
NM_025137.4(SPG11):c.5651G>A (p.Arg1884His)
|
rs767776590
|
|
NM_025137.4(SPG11):c.5652C>T (p.Arg1884=)
|
|
|
NM_025137.4(SPG11):c.5655A>G (p.Leu1885=)
|
|
|
NM_025137.4(SPG11):c.5664T>C (p.Asp1888=)
|
rs886051181
|
|
NM_025137.4(SPG11):c.5689G>A (p.Val1897Ile)
|
|
|
NM_025137.4(SPG11):c.5694C>T (p.Cys1898=)
|
rs1217386610
|
|
NM_025137.4(SPG11):c.56C>T (p.Thr19Ile)
|
rs1555384052
|
|
NM_025137.4(SPG11):c.5703del (p.His1902fs)
|
rs312262769
|
|
NM_025137.4(SPG11):c.5710T>G (p.Tyr1904Asp)
|
rs2082705435
|
|
NM_025137.4(SPG11):c.5719G>A (p.Asp1907Asn)
|
|
|
NM_025137.4(SPG11):c.5727C>T (p.Ala1909=)
|
|
|
NM_025137.4(SPG11):c.5735T>G (p.Leu1912Trp)
|
|
|
NM_025137.4(SPG11):c.5738A>G (p.His1913Arg)
|
rs2082704823
|
|
NM_025137.4(SPG11):c.5743A>C (p.Arg1915=)
|
|
|
NM_025137.4(SPG11):c.5747C>T (p.Ala1916Val)
|
rs2140946431
|
|
NM_025137.4(SPG11):c.5749C>T (p.Leu1917=)
|
|
|
NM_025137.4(SPG11):c.5755T>A (p.Ser1919Thr)
|
|
|
NM_025137.4(SPG11):c.5756C>T (p.Ser1919Leu)
|
rs1555448839
|
|
NM_025137.4(SPG11):c.5759G>A (p.Gly1920Glu)
|
rs1445593607
|
|
NM_025137.4(SPG11):c.5759G>C (p.Gly1920Ala)
|
|
|
NM_025137.4(SPG11):c.5760G>A (p.Gly1920=)
|
|
|
NM_025137.4(SPG11):c.5767A>T (p.Ser1923Cys)
|
rs1555448836
|
|
NM_025137.4(SPG11):c.5769T>C (p.Ser1923=)
|
rs1313485862
|
|
NM_025137.4(SPG11):c.5769del (p.Ser1923fs)
|
rs312262770
|
|
NM_025137.4(SPG11):c.5769dup (p.Met1924fs)
|
rs1595842556
|
|
NM_025137.4(SPG11):c.576A>C (p.Thr192=)
|
rs2141126286
|
|
NM_025137.4(SPG11):c.5775G>C (p.Glu1925Asp)
|
rs1567138139
|
|
NM_025137.4(SPG11):c.577del (p.Leu193fs)
|
|
|
NM_025137.4(SPG11):c.5784C>T (p.His1928=)
|
|
|
NM_025137.4(SPG11):c.5792T>A (p.Ile1931Asn)
|
|
|
NM_025137.4(SPG11):c.5794del (p.His1932fs)
|
|
|
NM_025137.4(SPG11):c.5798del (p.Ala1933fs)
|
rs312262771
|
|
NM_025137.4(SPG11):c.57C>G (p.Thr19=)
|
rs1380799323
|
|
NM_025137.4(SPG11):c.5800C>T (p.Leu1934Phe)
|
|
|
NM_025137.4(SPG11):c.5803C>G (p.Leu1935Val)
|
rs746663514
|
|
NM_025137.4(SPG11):c.5805A>G (p.Leu1935=)
|
|
|
NM_025137.4(SPG11):c.5806C>T (p.Gln1936Ter)
|
|
|
NM_025137.4(SPG11):c.5815G>T (p.Glu1939Ter)
|
rs2082702986
|
|
NM_025137.4(SPG11):c.5820G>A (p.Leu1940=)
|
|
|
NM_025137.4(SPG11):c.5826G>A (p.Glu1942=)
|
rs2140946251
|
|
NM_025137.4(SPG11):c.5827G>A (p.Glu1943Lys)
|
|
|
NM_025137.4(SPG11):c.5829A>G (p.Glu1943=)
|
|
|
NM_025137.4(SPG11):c.582C>T (p.Pro194=)
|
|
|
NM_025137.4(SPG11):c.5838C>G (p.Pro1946=)
|
|
|
NM_025137.4(SPG11):c.5839G>T (p.Asp1947Tyr)
|
rs751801619
|
|
NM_025137.4(SPG11):c.5842dup (p.Ile1948fs)
|
rs1555448810
|
|
NM_025137.4(SPG11):c.5844del (p.Pro1949_Leu1950insTer)
|
rs1323156960
|
|
NM_025137.4(SPG11):c.5854dup (p.Arg1952fs)
|
|
|
NM_025137.4(SPG11):c.5861A>C (p.His1954Pro)
|
rs954248015
|
|
NM_025137.4(SPG11):c.5861A>G (p.His1954Arg)
|
rs954248015
|
|
NM_025137.4(SPG11):c.5862C>T (p.His1954=)
|
rs2140946181
|
|
NM_025137.4(SPG11):c.5864G>A (p.Ser1955Asn)
|
|
|
NM_025137.4(SPG11):c.5864del (p.Ser1955fs)
|
|
|
NM_025137.4(SPG11):c.5865C>G (p.Ser1955Arg)
|
|
|
NM_025137.4(SPG11):c.5866+11G>A
|
|
|
NM_025137.4(SPG11):c.5866+16C>A
|
rs530748278
|
|
NM_025137.4(SPG11):c.5866+16C>G
|
|
|
NM_025137.4(SPG11):c.5866+5G>A
|
rs1256036525
|
|
NM_025137.4(SPG11):c.5866+5G>C
|
rs1256036525
|
|
NM_025137.4(SPG11):c.5866_5866+4del
|
rs771346977
|
|
NM_025137.4(SPG11):c.5867-13T>C
|
|
|
NM_025137.4(SPG11):c.5867-13T>G
|
|
|
NM_025137.4(SPG11):c.5867-1G>A
|
rs1060501168
|
|
NM_025137.4(SPG11):c.5867-1G>T
|
rs1060501168
|
|
NM_025137.4(SPG11):c.5867-3237_6478-451del
|
|
|
NM_025137.4(SPG11):c.5867-6T>G
|
|
|
NM_025137.4(SPG11):c.5867-8G>C
|
|
|
NM_025137.4(SPG11):c.5870C>G (p.Ser1957Ter)
|
rs312262772
|
|
NM_025137.4(SPG11):c.5876dup (p.Asp1960fs)
|
|
|
NM_025137.4(SPG11):c.5878G>A (p.Asp1960Asn)
|
rs761271386
|
|
NM_025137.4(SPG11):c.5880_5881dup (p.Ser1961fs)
|
|
|
NM_025137.4(SPG11):c.5881A>G (p.Ser1961Gly)
|
|
|
NM_025137.4(SPG11):c.5895G>A (p.Val1965=)
|
|
|
NM_025137.4(SPG11):c.5898A>C (p.Thr1966=)
|
|
|
NM_025137.4(SPG11):c.5898A>G (p.Thr1966=)
|
rs1464906163
|
|
NM_025137.4(SPG11):c.5900_5901dup (p.Pro1968fs)
|
rs2140931516
|
|
NM_025137.4(SPG11):c.5901G>T (p.Val1967=)
|
|
|
NM_025137.4(SPG11):c.5911A>G (p.Asn1971Asp)
|
|
|
NM_025137.4(SPG11):c.5913T>C (p.Asn1971=)
|
|
|
NM_025137.4(SPG11):c.5918T>C (p.Val1973Ala)
|
rs2082504085
|
|
NM_025137.4(SPG11):c.591A>G (p.Ala197=)
|
|
|
NM_025137.4(SPG11):c.592C>T (p.Gln198Ter)
|
rs863225440
|
|
NM_025137.4(SPG11):c.5946C>G (p.Ser1982Arg)
|
rs1567132752
|
|
NM_025137.4(SPG11):c.5948A>G (p.Lys1983Arg)
|
|
|
NM_025137.4(SPG11):c.5948A>T (p.Lys1983Ile)
|
|
|
NM_025137.4(SPG11):c.5949A>G (p.Lys1983=)
|
|
|
NM_025137.4(SPG11):c.5955C>A (p.Leu1985=)
|
|
|
NM_025137.4(SPG11):c.5959G>C (p.Gly1987Arg)
|
rs2140931439
|
|
NM_025137.4(SPG11):c.5960G>C (p.Gly1987Ala)
|
rs370519546
|
|
NM_025137.4(SPG11):c.5966ACT[1] (p.Tyr1990del)
|
rs2140931403
|
|
NM_025137.4(SPG11):c.5970C>G (p.Tyr1990Ter)
|
rs312262773
|
|
NM_025137.4(SPG11):c.5972del (p.Cys1991fs)
|
rs2082503070
|
|
NM_025137.4(SPG11):c.5977C>T (p.Gln1993Ter)
|
rs312262774
|
|
NM_025137.4(SPG11):c.597A>G (p.Ala199=)
|
|
|
NM_025137.4(SPG11):c.5980G>T (p.Val1994Phe)
|
|
|
NM_025137.4(SPG11):c.5982C>T (p.Val1994=)
|
|
|
NM_025137.4(SPG11):c.5985_5986del (p.Cys1996fs)
|
rs1555447724
|
|
NM_025137.4(SPG11):c.5989_5992del (p.Leu1997fs)
|
rs312262776
|
|
NM_025137.4(SPG11):c.5990T>A (p.Leu1997Gln)
|
rs879367729
|
|
NM_025137.4(SPG11):c.5992_5995del (p.Tyr1998fs)
|
|
|
NM_025137.4(SPG11):c.5992dup (p.Tyr1998fs)
|
rs312262777
|
|
NM_025137.4(SPG11):c.59C>A (p.Ala20Glu)
|
|
|
NM_025137.4(SPG11):c.59C>T (p.Ala20Val)
|
rs1453437368
|
|
NM_025137.4(SPG11):c.6003C>G (p.Ala2001=)
|
|
|
NM_025137.4(SPG11):c.6006+10A>C
|
rs2140931300
|
|
NM_025137.4(SPG11):c.6006+12G>C
|
|
|
NM_025137.4(SPG11):c.6006+15dup
|
rs758198610
|
|
NM_025137.4(SPG11):c.6006+17G>A
|
|
|
NM_025137.4(SPG11):c.6006+19G>A
|
|
|
NM_025137.4(SPG11):c.6006+4T>C
|
rs2140931302
|
|
NM_025137.4(SPG11):c.6006+8C>T
|
|
|
NM_025137.4(SPG11):c.6007-13G>A
|
|
|
NM_025137.4(SPG11):c.6007-13G>C
|
rs914339608
|
|
NM_025137.4(SPG11):c.6007-18G>A
|
|
|
NM_025137.4(SPG11):c.6007-18G>C
|
|
|
NM_025137.4(SPG11):c.6007-282_6007-281del
|
rs141674769
|
|
NM_025137.4(SPG11):c.6007-3C>G
|
rs1410926036
|
|
NM_025137.4(SPG11):c.6007-6T>C
|
rs886051180
|
|
NM_025137.4(SPG11):c.6007-8C>T
|
|
|
NM_025137.4(SPG11):c.6010T>C (p.Leu2004=)
|
rs200220848
|
|
NM_025137.4(SPG11):c.6012G>A (p.Leu2004=)
|
rs2140929232
|
|
NM_025137.4(SPG11):c.6014G>C (p.Gly2005Ala)
|
rs2140929215
|
|
NM_025137.4(SPG11):c.6016T>G (p.Cys2006Gly)
|
rs2082475892
|
|
NM_025137.4(SPG11):c.6018T>C (p.Cys2006=)
|
|
|
NM_025137.4(SPG11):c.601G>C (p.Asp201His)
|
|
|
NM_025137.4(SPG11):c.6021del (p.Tyr2008fs)
|
rs886051179
|
|
NM_025137.4(SPG11):c.6038C>T (p.Ala2013Val)
|
rs745997529
|
|
NM_025137.4(SPG11):c.6045T>C (p.Asp2015=)
|
rs749530648
|
|
NM_025137.4(SPG11):c.6048T>C (p.Gly2016=)
|
|
|
NM_025137.4(SPG11):c.6055A>G (p.Met2019Val)
|
|
|
NM_025137.4(SPG11):c.6056T>C (p.Met2019Thr)
|
rs1268897921
|
|
NM_025137.4(SPG11):c.6067dup (p.Ile2023fs)
|
|
|
NM_025137.4(SPG11):c.6069C>T (p.Ile2023=)
|
rs753141662
|
|
NM_025137.4(SPG11):c.606G>C (p.Met202Ile)
|
rs1555383185
|
|
NM_025137.4(SPG11):c.6070T>C (p.Leu2024=)
|
|
|
NM_025137.4(SPG11):c.6075C>A (p.Ala2025=)
|
|
|
NM_025137.4(SPG11):c.6075C>G (p.Ala2025=)
|
rs1430809185
|
|
NM_025137.4(SPG11):c.6078T>G (p.Ser2026=)
|
|
|
NM_025137.4(SPG11):c.6088del (p.Asp2030fs)
|
|
|
NM_025137.4(SPG11):c.6090C>T (p.Asp2030=)
|
|
|
NM_025137.4(SPG11):c.6091C>T (p.Arg2031Ter)
|
rs147713329
|
|
NM_025137.4(SPG11):c.6092G>C (p.Arg2031Pro)
|
rs1365555358
|
|
NM_025137.4(SPG11):c.6098A>G (p.Lys2033Arg)
|
|
|
NM_025137.4(SPG11):c.609T>C (p.Ile203=)
|
|
|
NM_025137.4(SPG11):c.60G>A (p.Ala20=)
|
rs544136842
|
|
NM_025137.4(SPG11):c.60G>C (p.Ala20=)
|
rs544136842
|
|
NM_025137.4(SPG11):c.6100C>G (p.Arg2034Gly)
|
rs118203963
|
|
NM_025137.4(SPG11):c.6105C>T (p.Ala2035=)
|
rs1595828430
|
|
NM_025137.4(SPG11):c.6111C>G (p.Ala2037=)
|
|
|
NM_025137.4(SPG11):c.6114C>T (p.Phe2038=)
|
|
|
NM_025137.4(SPG11):c.6121A>G (p.Thr2041Ala)
|
|
|
NM_025137.4(SPG11):c.6122C>T (p.Thr2041Ile)
|
|
|
NM_025137.4(SPG11):c.6123dup (p.Gln2042fs)
|
rs2140928964
|
|
NM_025137.4(SPG11):c.6124_6125del (p.Gln2042fs)
|
|
|
NM_025137.4(SPG11):c.6130C>A (p.Leu2044Ile)
|
rs886051178
|
|
NM_025137.4(SPG11):c.6132_6133delinsGTGTGTTC (p.Lys2045delinsCysValGln)
|
|
|
NM_025137.4(SPG11):c.6134_6135dup (p.Pro2046fs)
|
rs2140928925
|
|
NM_025137.4(SPG11):c.6142A>G (p.Thr2048Ala)
|
rs2082471967
|
|
NM_025137.4(SPG11):c.6150T>C (p.Ala2050=)
|
rs2140928897
|
|
NM_025137.4(SPG11):c.6151G>T (p.Glu2051Ter)
|
rs771057519
|
|
NM_025137.4(SPG11):c.6157G>C (p.Val2053Leu)
|
|
|
NM_025137.4(SPG11):c.6158T>G (p.Val2053Gly)
|
rs2140928866
|
|
NM_025137.4(SPG11):c.6158_6163del (p.Val2053_Ala2054del)
|
|
|
NM_025137.4(SPG11):c.6159G>A (p.Val2053=)
|
|
|
NM_025137.4(SPG11):c.6174A>G (p.Thr2058=)
|
|
|
NM_025137.4(SPG11):c.6175C>A (p.Arg2059=)
|
|
|
NM_025137.4(SPG11):c.6175C>G (p.Arg2059Gly)
|
rs755438310
|
|
NM_025137.4(SPG11):c.6176G>T (p.Arg2059Leu)
|
rs757619567
|
|
NM_025137.4(SPG11):c.6187A>G (p.Thr2063Ala)
|
|
|
NM_025137.4(SPG11):c.6187_6188del (p.Thr2063fs)
|
|
|
NM_025137.4(SPG11):c.618G>A (p.Thr206=)
|
|
|
NM_025137.4(SPG11):c.6198G>A (p.Gln2066=)
|
|
|
NM_025137.4(SPG11):c.6199G>A (p.Gly2067Arg)
|
|
|
NM_025137.4(SPG11):c.6200G>A (p.Gly2067Glu)
|
rs1339436003
|
|
NM_025137.4(SPG11):c.6200del (p.Gly2067fs)
|
|
|
NM_025137.4(SPG11):c.6201A>T (p.Gly2067=)
|
rs764991726
|
|
NM_025137.4(SPG11):c.6203dup (p.Gly2069fs)
|
|
|
NM_025137.4(SPG11):c.6204A>G (p.Thr2068=)
|
|
|
NM_025137.4(SPG11):c.6205+10C>A
|
rs548551204
|
|
NM_025137.4(SPG11):c.6205+10C>G
|
rs548551204
|
|
NM_025137.4(SPG11):c.6205+13C>T
|
|
|
NM_025137.4(SPG11):c.6205+14C>G
|
|
|
NM_025137.4(SPG11):c.6205+14del
|
|
|
NM_025137.4(SPG11):c.6205+15G>A
|
|
|
NM_025137.4(SPG11):c.6205+15G>C
|
|
|
NM_025137.4(SPG11):c.6205+18G>A
|
rs770008849
|
|
NM_025137.4(SPG11):c.6205+18G>C
|
|
|
NM_025137.4(SPG11):c.6205+2T>C
|
|
|
NM_025137.4(SPG11):c.6205+6C>T
|
rs1595828225
|
|
NM_025137.4(SPG11):c.6205+7T>C
|
rs1555447556
|
|
NM_025137.4(SPG11):c.6205+8A>C
|
rs763990388
|
|
NM_025137.4(SPG11):c.6205+9C>A
|
|
|
NM_025137.4(SPG11):c.6205+9C>T
|
|
|
NM_025137.4(SPG11):c.6205+9dup
|
rs775165218
|
|
NM_025137.4(SPG11):c.6206-12C>G
|
|
|
NM_025137.4(SPG11):c.6206-15C>T
|
|
|
NM_025137.4(SPG11):c.6206-1G>C
|
rs312262778
|
|
NM_025137.4(SPG11):c.6206-4A>T
|
rs1444531163
|
|
NM_025137.4(SPG11):c.6206-6G>C
|
|
|
NM_025137.4(SPG11):c.6206-6G>T
|
rs1298829081
|
|
NM_025137.4(SPG11):c.6215_6219dup (p.Phe2074fs)
|
rs2082450607
|
|
NM_025137.4(SPG11):c.6219G>A (p.Met2073Ile)
|
rs778428857
|
|
NM_025137.4(SPG11):c.6223_6224insGAA (p.Phe2074_Asn2075insArg)
|
rs773225085
|
|
NM_025137.4(SPG11):c.6224A>C (p.Asn2075Thr)
|
rs140824939
|
|
NM_025137.4(SPG11):c.6225C>T (p.Asn2075=)
|
|
|
NM_025137.4(SPG11):c.622C>T (p.Leu208Phe)
|
|
|
NM_025137.4(SPG11):c.6230_6231del (p.Thr2077fs)
|
rs1555447459
|
|
NM_025137.4(SPG11):c.6231A>C (p.Thr2077=)
|
rs2082450015
|
|
NM_025137.4(SPG11):c.6233A>C (p.Glu2078Ala)
|
rs1302238562
|
|
NM_025137.4(SPG11):c.6246A>G (p.Thr2082=)
|
|
|
NM_025137.4(SPG11):c.6261del (p.Thr2088fs)
|
rs2140927039
|
|
NM_025137.4(SPG11):c.6263C>T (p.Thr2088Ile)
|
rs1283621415
|
|
NM_025137.4(SPG11):c.6264T>G (p.Thr2088=)
|
|
|
NM_025137.4(SPG11):c.6266dup (p.Cys2090fs)
|
|
|
NM_025137.4(SPG11):c.6269_6270del (p.Cys2090fs)
|
rs749705821
|
|
NM_025137.4(SPG11):c.6279C>G (p.Arg2093=)
|
|
|
NM_025137.4(SPG11):c.6281C>G (p.Thr2094Arg)
|
|
|
NM_025137.4(SPG11):c.6283T>C (p.Leu2095=)
|
rs2082448894
|
|
NM_025137.4(SPG11):c.6284T>A (p.Leu2095Ter)
|
|
|
NM_025137.4(SPG11):c.6289G>A (p.Gly2097Ser)
|
|
|
NM_025137.4(SPG11):c.6291C>T (p.Gly2097=)
|
|
|
NM_025137.4(SPG11):c.6293T>C (p.Met2098Thr)
|
rs2082448645
|
|
NM_025137.4(SPG11):c.6299T>C (p.Leu2100Ser)
|
|
|
NM_025137.4(SPG11):c.62C>G (p.Ala21Gly)
|
rs1178130732
|
|
NM_025137.4(SPG11):c.6301T>G (p.Leu2101Val)
|
|
|
NM_025137.4(SPG11):c.6303G>A (p.Leu2101=)
|
rs1595826884
|
|
NM_025137.4(SPG11):c.6305A>G (p.Asp2102Gly)
|
|
|
NM_025137.4(SPG11):c.6305A>T (p.Asp2102Val)
|
rs531345715
|
|
NM_025137.4(SPG11):c.6306T>C (p.Asp2102=)
|
|
|
NM_025137.4(SPG11):c.6306_6307insC (p.Lys2103fs)
|
|
|
NM_025137.4(SPG11):c.6308A>G (p.Lys2103Arg)
|
rs1555447440
|
|
NM_025137.4(SPG11):c.6309G>C (p.Lys2103Asn)
|
|
|
NM_025137.4(SPG11):c.6317_6335del (p.Ser2106fs)
|
rs1439018038
|
|
NM_025137.4(SPG11):c.6318C>T (p.Ser2106=)
|
|
|
NM_025137.4(SPG11):c.6326_6327insCTTTTACACTGTTGGTGGGACTGTAAACTAGTTCAACCATTGTGGAAGTCAGTGTGGCGATTCCTCAGGGATCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAGATTTCCTCCGTTCCCCA (p.His2109_Gly2110insPheTyrThrValGlyGlyThrValAsnTer)
|
|
|
NM_025137.4(SPG11):c.6327T>A (p.His2109Gln)
|
rs754787719
|
|
NM_025137.4(SPG11):c.6327T>C (p.His2109=)
|
rs754787719
|
|
NM_025137.4(SPG11):c.6331del (p.Glu2111fs)
|
rs2140926873
|
|
NM_025137.4(SPG11):c.6333A>G (p.Glu2111=)
|
|
|
NM_025137.4(SPG11):c.6334C>T (p.Leu2112=)
|
|
|
NM_025137.4(SPG11):c.6343+12A>T
|
|
|
NM_025137.4(SPG11):c.6343+14del
|
|
|
NM_025137.4(SPG11):c.6343+19T>G
|
|
|
NM_025137.4(SPG11):c.6343+1G>T
|
rs1555447432
|
|
NM_025137.4(SPG11):c.6343+5G>T
|
rs756302161
|
|
NM_025137.4(SPG11):c.6343+8A>T
|
|
|
NM_025137.4(SPG11):c.6343+9T>C
|
|
|
NM_025137.4(SPG11):c.6344-13C>A
|
|
|
NM_025137.4(SPG11):c.6344-16G>T
|
|
|
NM_025137.4(SPG11):c.6344-17A>G
|
|
|
NM_025137.4(SPG11):c.6344-18C>T
|
|
|
NM_025137.4(SPG11):c.6344-19C>T
|
|
|
NM_025137.4(SPG11):c.6344-20A>C
|
rs1595824228
|
|
NM_025137.4(SPG11):c.6344-24_6344-20del
|
|
|
NM_025137.4(SPG11):c.6344-9C>T
|
|
|
NM_025137.4(SPG11):c.6345C>A (p.Thr2115=)
|
|
|
NM_025137.4(SPG11):c.6345C>T (p.Thr2115=)
|
|
|
NM_025137.4(SPG11):c.6347C>G (p.Thr2116Arg)
|
rs751929116
|
|
NM_025137.4(SPG11):c.6347_6348del (p.Thr2116fs)
|
|
|
NM_025137.4(SPG11):c.6354C>A (p.Leu2118=)
|
|
|
NM_025137.4(SPG11):c.6354C>T (p.Leu2118=)
|
|
|
NM_025137.4(SPG11):c.6359T>C (p.Ile2120Thr)
|
rs1236437265
|
|
NM_025137.4(SPG11):c.6365_6387del (p.Ala2122fs)
|
rs2140923165
|
|
NM_025137.4(SPG11):c.6366C>G (p.Ala2122=)
|
|
|
NM_025137.4(SPG11):c.6367C>T (p.His2123Tyr)
|
rs1567129561
|
|
NM_025137.4(SPG11):c.636T>A (p.Ile212=)
|
rs1595937717
|
|
NM_025137.4(SPG11):c.6372T>C (p.His2124=)
|
rs1595824110
|
|
NM_025137.4(SPG11):c.6375C>T (p.Cys2125=)
|
rs1432114741
|
|
NM_025137.4(SPG11):c.637C>A (p.Leu213Ile)
|
|
|
NM_025137.4(SPG11):c.6382C>G (p.Leu2128Val)
|
rs1302560163
|
|
NM_025137.4(SPG11):c.6384G>C (p.Leu2128=)
|
|
|
NM_025137.4(SPG11):c.6387G>C (p.Thr2129=)
|
rs150121550
|
|
NM_025137.4(SPG11):c.6391C>A (p.His2131Asn)
|
rs775209503
|
|
NM_025137.4(SPG11):c.6391C>T (p.His2131Tyr)
|
|
|
NM_025137.4(SPG11):c.6395T>A (p.Met2132Lys)
|
|
|
NM_025137.4(SPG11):c.6401G>T (p.Gly2134Val)
|
|
|
NM_025137.4(SPG11):c.6404del (p.Ile2135fs)
|
rs2140923130
|
|
NM_025137.4(SPG11):c.6406A>C (p.Ile2136Leu)
|
|
|
NM_025137.4(SPG11):c.6418C>T (p.Gln2140Ter)
|
rs1567129475
|
|
NM_025137.4(SPG11):c.641T>G (p.Phe214Cys)
|
rs2141126013
|
|
NM_025137.4(SPG11):c.6421G>A (p.Ala2141Thr)
|
|
|
NM_025137.4(SPG11):c.6424G>T (p.Ala2142Ser)
|
|
|
NM_025137.4(SPG11):c.6424dup (p.Ala2142fs)
|
|
|
NM_025137.4(SPG11):c.642del (p.Phe214fs)
|
rs312262717
|
|
NM_025137.4(SPG11):c.6437_6438del (p.Thr2146fs)
|
rs2082401685
|
|
NM_025137.4(SPG11):c.6438A>G (p.Thr2146=)
|
|
|
NM_025137.4(SPG11):c.6443A>C (p.Asn2148Thr)
|
|
|
NM_025137.4(SPG11):c.6448C>G (p.Leu2150Val)
|
rs1403957064
|
|
NM_025137.4(SPG11):c.6449_6455del (p.Leu2150fs)
|
rs1304713296
|
|
NM_025137.4(SPG11):c.6451del (p.Ala2151fs)
|
rs312262779
|
|
NM_025137.4(SPG11):c.6460G>A (p.Glu2154Lys)
|
|
|
NM_025137.4(SPG11):c.6461A>G (p.Glu2154Gly)
|
rs771827244
|
|
NM_025137.4(SPG11):c.6462G>A (p.Glu2154=)
|
|
|
NM_025137.4(SPG11):c.6467A>G (p.Tyr2156Cys)
|
|
|
NM_025137.4(SPG11):c.6477+12C>A
|
|
|
NM_025137.4(SPG11):c.6477+13del
|
rs574960359
|
|
NM_025137.4(SPG11):c.6477+19C>T
|
|
|
NM_025137.4(SPG11):c.6477+4A>G
|
rs312262780
|
|
NM_025137.4(SPG11):c.6477+5G>A
|
|
|
NM_025137.4(SPG11):c.6477+5G>C
|
|
|
NM_025137.4(SPG11):c.6477+5G>T
|
rs2140922964
|
|
NM_025137.4(SPG11):c.6477+6_6477+8del
|
rs748324376
|
|
NM_025137.4(SPG11):c.6477G>A (p.Val2159=)
|
|
|
NM_025137.4(SPG11):c.6478-10C>A
|
|
|
NM_025137.4(SPG11):c.6478-16T>A
|
rs2140921097
|
|
NM_025137.4(SPG11):c.6478-17G>A
|
|
|
NM_025137.4(SPG11):c.6478-214del
|
rs1047071923
|
|
NM_025137.4(SPG11):c.6478-2A>C
|
rs2082374687
|
|
NM_025137.4(SPG11):c.6478-2A>G
|
|
|
NM_025137.4(SPG11):c.6478-7T>G
|
|
|
NM_025137.4(SPG11):c.6478-9A>G
|
|
|
NM_025137.4(SPG11):c.6480A>T (p.Val2160=)
|
|
|
NM_025137.4(SPG11):c.6482G>A (p.Arg2161Gln)
|
|
|
NM_025137.4(SPG11):c.6483G>A (p.Arg2161=)
|
|
|
NM_025137.4(SPG11):c.6483G>C (p.Arg2161=)
|
|
|
NM_025137.4(SPG11):c.6484C>A (p.Leu2162Ile)
|
rs770769595
|
|
NM_025137.4(SPG11):c.6491C>T (p.Thr2164Ile)
|
rs1362623682
|
|
NM_025137.4(SPG11):c.6498T>C (p.Ile2166=)
|
|
|
NM_025137.4(SPG11):c.6500del (p.Gly2167fs)
|
rs2140921013
|
|
NM_025137.4(SPG11):c.6507C>A (p.Tyr2169Ter)
|
|
|
NM_025137.4(SPG11):c.6507C>T (p.Tyr2169=)
|
rs1476614745
|
|
NM_025137.4(SPG11):c.6508_6510del (p.Asn2170del)
|
rs757237014
|
|
NM_025137.4(SPG11):c.6510C>G (p.Asn2170Lys)
|
|
|
NM_025137.4(SPG11):c.6510C>T (p.Asn2170=)
|
|
|
NM_025137.4(SPG11):c.6516G>T (p.Met2172Ile)
|
|
|
NM_025137.4(SPG11):c.6520_6521del (p.Tyr2174fs)
|
rs2140920947
|
|
NM_025137.4(SPG11):c.6523A>C (p.Ile2175Leu)
|
rs1567128530
|
|
NM_025137.4(SPG11):c.6523del (p.Ile2175fs)
|
|
|
NM_025137.4(SPG11):c.6540del (p.His2180fs)
|
rs2140920898
|
|
NM_025137.4(SPG11):c.6548ACT[1] (p.Tyr2184del)
|
|
|
NM_025137.4(SPG11):c.6549C>T (p.His2183=)
|
|
|
NM_025137.4(SPG11):c.654_655delinsG (p.Ser218fs)
|
rs312262718
|
|
NM_025137.4(SPG11):c.6552C>T (p.Tyr2184=)
|
|
|
NM_025137.4(SPG11):c.6554T>C (p.Phe2185Ser)
|
rs2140920863
|
|
NM_025137.4(SPG11):c.6555T>A (p.Phe2185Leu)
|
rs2140920859
|
|
NM_025137.4(SPG11):c.6558A>G (p.Glu2186=)
|
|
|
NM_025137.4(SPG11):c.6568A>C (p.Arg2190=)
|
rs1383809148
|
|
NM_025137.4(SPG11):c.6585+15A>G
|
|
|
NM_025137.4(SPG11):c.6585+15dup
|
|
|
NM_025137.4(SPG11):c.6585+213_6585+217del
|
rs1400952377
|
|
NM_025137.4(SPG11):c.6585+217_6585+218del
|
rs368971139
|
|
NM_025137.4(SPG11):c.6585+220_6585+221dup
|
rs1188132986
|
|
NM_025137.4(SPG11):c.6585+220dup
|
rs1188132986
|
|
NM_025137.4(SPG11):c.6585+233del
|
rs1188132986
|
|
NM_025137.4(SPG11):c.6585+2T>G
|
rs2140920796
|
|
NM_025137.4(SPG11):c.6585+9A>C
|
|
|
NM_025137.4(SPG11):c.6586-16C>T
|
|
|
NM_025137.4(SPG11):c.6586-16del
|
|
|
NM_025137.4(SPG11):c.6586-19del
|
|
|
NM_025137.4(SPG11):c.6586-1G>A
|
rs1060501174
|
|
NM_025137.4(SPG11):c.6586-1G>T
|
rs1060501174
|
|
NM_025137.4(SPG11):c.6586-20T>C
|
|
|
NM_025137.4(SPG11):c.6586-7T>C
|
rs1057524222
|
|
NM_025137.4(SPG11):c.6590G>A (p.Gly2197Asp)
|
rs756548501
|
|
NM_025137.4(SPG11):c.6590G>C (p.Gly2197Ala)
|
|
|
NM_025137.4(SPG11):c.6594C>G (p.Thr2198=)
|
|
|
NM_025137.4(SPG11):c.6596T>C (p.Leu2199Pro)
|
|
|
NM_025137.4(SPG11):c.65T>C (p.Met22Thr)
|
rs779434840
|
|
NM_025137.4(SPG11):c.6602C>T (p.Thr2201Ile)
|
rs2140917223
|
|
NM_025137.4(SPG11):c.6607C>G (p.Leu2203Val)
|
|
|
NM_025137.4(SPG11):c.6607C>T (p.Leu2203=)
|
|
|
NM_025137.4(SPG11):c.6610C>A (p.Leu2204Met)
|
|
|
NM_025137.4(SPG11):c.6610C>G (p.Leu2204Val)
|
|
|
NM_025137.4(SPG11):c.6615C>T (p.Asp2205=)
|
|
|
NM_025137.4(SPG11):c.6621C>A (p.Ile2207=)
|
|
|
NM_025137.4(SPG11):c.6631C>A (p.Arg2211Ser)
|
rs148260507
|
|
NM_025137.4(SPG11):c.6632dup (p.Pro2212fs)
|
rs863225439
|
|
NM_025137.4(SPG11):c.6635dup (p.Gly2213fs)
|
|
|
NM_025137.4(SPG11):c.6639A>G (p.Gly2213=)
|
|
|
NM_025137.4(SPG11):c.6656A>G (p.Asn2219Ser)
|
|
|
NM_025137.4(SPG11):c.6656A>T (p.Asn2219Ile)
|
|
|
NM_025137.4(SPG11):c.6657T>C (p.Asn2219=)
|
rs2140917127
|
|
NM_025137.4(SPG11):c.6658_6659del (p.Met2220fs)
|
|
|
NM_025137.4(SPG11):c.6667C>A (p.Leu2223Met)
|
rs2140917102
|
|
NM_025137.4(SPG11):c.667+12G>A
|
|
|
NM_025137.4(SPG11):c.667+12_667+14del
|
|
|
NM_025137.4(SPG11):c.667+13G>T
|
|
|
NM_025137.4(SPG11):c.667+18A>G
|
|
|
NM_025137.4(SPG11):c.667+18A>T
|
|
|
NM_025137.4(SPG11):c.667+19G>A
|
|
|
NM_025137.4(SPG11):c.667+1G>A
|
|
|
NM_025137.4(SPG11):c.6677G>T (p.Ser2226Ile)
|
rs2082334964
|
|
NM_025137.4(SPG11):c.668-10T>C
|
|
|
NM_025137.4(SPG11):c.668-10_668-9insTTA
|
rs1595935403
|
|
NM_025137.4(SPG11):c.668-11C>T
|
|
|
NM_025137.4(SPG11):c.668-13C>T
|
|
|
NM_025137.4(SPG11):c.668-14del
|
|
|
NM_025137.4(SPG11):c.668-1G>T
|
rs2141121333
|
|
NM_025137.4(SPG11):c.668-28G>A
|
rs749231608
|
|
NM_025137.4(SPG11):c.668-6T>G
|
|
|
NM_025137.4(SPG11):c.668-7_668-4del
|
rs1272830874
|
|
NM_025137.4(SPG11):c.6681G>A (p.Met2227Ile)
|
|
|
NM_025137.4(SPG11):c.6684C>T (p.Cys2228=)
|
|
|
NM_025137.4(SPG11):c.6685C>A (p.Arg2229=)
|
rs751245734
|
|
NM_025137.4(SPG11):c.6690G>A (p.Glu2230=)
|
rs768025841
|
|
NM_025137.4(SPG11):c.6692T>C (p.Ile2231Thr)
|
rs1363230897
|
|
NM_025137.4(SPG11):c.669C>T (p.Tyr223=)
|
|
|
NM_025137.4(SPG11):c.6705C>T (p.His2235=)
|
|
|
NM_025137.4(SPG11):c.6706G>A (p.Glu2236Lys)
|
|
|
NM_025137.4(SPG11):c.6706G>C (p.Glu2236Gln)
|
|
|
NM_025137.4(SPG11):c.6709G>A (p.Ala2237Thr)
|
|
|
NM_025137.4(SPG11):c.670A>G (p.Ile224Val)
|
rs2084969218
|
|
NM_025137.4(SPG11):c.6715G>A (p.Ala2239Thr)
|
rs2140916975
|
|
NM_025137.4(SPG11):c.6725A>C (p.Gln2242Pro)
|
rs2140916949
|
|
NM_025137.4(SPG11):c.6735G>A (p.Leu2245=)
|
rs1555446716
|
|
NM_025137.4(SPG11):c.6737_6740del (p.Ile2246fs)
|
rs312262781
|
|
NM_025137.4(SPG11):c.6738del (p.Ile2246fs)
|
rs1555446712
|
|
NM_025137.4(SPG11):c.6738dup (p.Glu2247Ter)
|
|
|
NM_025137.4(SPG11):c.6739_6742del (p.Glu2247fs)
|
rs312262782
|
|
NM_025137.4(SPG11):c.6743C>G (p.Ser2248Cys)
|
rs1567127087
|
|
NM_025137.4(SPG11):c.6750C>G (p.Pro2250=)
|
|
|
NM_025137.4(SPG11):c.6751T>C (p.Trp2251Arg)
|
|
|
NM_025137.4(SPG11):c.6753G>A (p.Trp2251Ter)
|
rs2082333064
|
|
NM_025137.4(SPG11):c.6754+233_6754+239del
|
rs138766339
|
|
NM_025137.4(SPG11):c.6754+2_6754+3dup
|
rs759090170
|
|
NM_025137.4(SPG11):c.6754+3_6754+4delinsAG
|
rs2140916862
|
|
NM_025137.4(SPG11):c.6754+57_6754+58dup
|
rs397853802
|
|
NM_025137.4(SPG11):c.6754+57dup
|
rs397853802
|
|
NM_025137.4(SPG11):c.6754+5G>A
|
|
|
NM_025137.4(SPG11):c.6754+74del
|
rs397853802
|
|
NM_025137.4(SPG11):c.6754+75G>T
|
rs1370132680
|
|
NM_025137.4(SPG11):c.6754G>A (p.Glu2252Lys)
|
rs2140916872
|
|
NM_025137.4(SPG11):c.6755-13_6755-12del
|
|
|
NM_025137.4(SPG11):c.6755-16_6755-14del
|
|
|
NM_025137.4(SPG11):c.6755-17_6755-14del
|
|
|
NM_025137.4(SPG11):c.6755-17_6755-15del
|
rs143026515
|
|
NM_025137.4(SPG11):c.6755-19T>A
|
|
|
NM_025137.4(SPG11):c.6755-1G>A
|
|
|
NM_025137.4(SPG11):c.6755-3C>G
|
rs1177654504
|
|
NM_025137.4(SPG11):c.6755-6C>G
|
rs2140914474
|
|
NM_025137.4(SPG11):c.6755-7C>T
|
rs1459468329
|
|
NM_025137.4(SPG11):c.6755-8C>T
|
|
|
NM_025137.4(SPG11):c.6755A>C (p.Glu2252Ala)
|
rs1555446548
|
|
NM_025137.4(SPG11):c.6758A>G (p.Asp2253Gly)
|
rs761230564
|
|
NM_025137.4(SPG11):c.6768G>A (p.Lys2256=)
|
|
|
NM_025137.4(SPG11):c.676G>C (p.Asp226His)
|
rs971078676
|
|
NM_025137.4(SPG11):c.676G>T (p.Asp226Tyr)
|
|
|
NM_025137.4(SPG11):c.6774G>A (p.Gly2258=)
|
|
|
NM_025137.4(SPG11):c.6774G>C (p.Gly2258=)
|
|
|
NM_025137.4(SPG11):c.6775C>G (p.His2259Asp)
|
rs2082307117
|
|
NM_025137.4(SPG11):c.6778C>T (p.Gln2260Ter)
|
rs2140914403
|
|
NM_025137.4(SPG11):c.6780G>A (p.Gln2260=)
|
rs770643416
|
|
NM_025137.4(SPG11):c.6780G>C (p.Gln2260His)
|
rs770643416
|
|
NM_025137.4(SPG11):c.6783G>C (p.Leu2261=)
|
|
|
NM_025137.4(SPG11):c.6784A>G (p.Lys2262Glu)
|
rs2140914382
|
|
NM_025137.4(SPG11):c.6785AAC[1] (p.Gln2263del)
|
rs1384234762
|
|
NM_025137.4(SPG11):c.6787C>T (p.Gln2263Ter)
|
|
|
NM_025137.4(SPG11):c.6788_6789delinsTG (p.Gln2263Leu)
|
|
|
NM_025137.4(SPG11):c.6789A>G (p.Gln2263=)
|
|
|
NM_025137.4(SPG11):c.6790C>T (p.Leu2264=)
|
|
|
NM_025137.4(SPG11):c.6790dup (p.Leu2264fs)
|
rs312262783
|
|
NM_025137.4(SPG11):c.6798G>A (p.Leu2266=)
|
rs1414442001
|
|
NM_025137.4(SPG11):c.6803C>T (p.Ala2268Val)
|
rs2082306504
|
|
NM_025137.4(SPG11):c.6807G>T (p.Leu2269=)
|
|
|
NM_025137.4(SPG11):c.6811_6812del (p.Leu2271fs)
|
rs1268815918
|
|
NM_025137.4(SPG11):c.6813G>C (p.Leu2271=)
|
|
|
NM_025137.4(SPG11):c.6820G>A (p.Asp2274Asn)
|
rs1555446520
|
|
NM_025137.4(SPG11):c.6826_6843+8del
|
rs1595817498
|
|
NM_025137.4(SPG11):c.6831del (p.Ser2278fs)
|
|
|
NM_025137.4(SPG11):c.6832_6833del (p.Ser2278fs)
|
rs312262784
|
|
NM_025137.4(SPG11):c.6837T>C (p.Tyr2279=)
|
|
|
NM_025137.4(SPG11):c.6840C>G (p.Ala2280=)
|
rs760995829
|
|
NM_025137.4(SPG11):c.6842A>G (p.Lys2281Arg)
|
|
|
NM_025137.4(SPG11):c.6843+18T>C
|
|
|
NM_025137.4(SPG11):c.6843+2_6843+7dup
|
|
|
NM_025137.4(SPG11):c.6844-10T>C
|
|
|
NM_025137.4(SPG11):c.6844-12C>G
|
|
|
NM_025137.4(SPG11):c.6844-13C>T
|
|
|
NM_025137.4(SPG11):c.6844-14C>T
|
|
|
NM_025137.4(SPG11):c.6844-15A>G
|
|
|
NM_025137.4(SPG11):c.6844-19C>A
|
rs539232104
|
|
NM_025137.4(SPG11):c.6844-19del
|
|
|
NM_025137.4(SPG11):c.6844-2A>G
|
rs2140913822
|
|
NM_025137.4(SPG11):c.6844-5del
|
|
|
NM_025137.4(SPG11):c.6844-9G>T
|
|
|
NM_025137.4(SPG11):c.6844G>A (p.Asp2282Asn)
|
|
|
NM_025137.4(SPG11):c.6849C>T (p.Ser2283=)
|
rs566330854
|
|
NM_025137.4(SPG11):c.6857G>C (p.Arg2286Pro)
|
|
|
NM_025137.4(SPG11):c.6861G>A (p.Gln2287=)
|
|
|
NM_025137.4(SPG11):c.6867G>C (p.Gln2289His)
|
rs762598343
|
|
NM_025137.4(SPG11):c.6867G>T (p.Gln2289His)
|
|
|
NM_025137.4(SPG11):c.6871dup (p.Cys2291fs)
|
|
|
NM_025137.4(SPG11):c.6872G>A (p.Cys2291Tyr)
|
|
|
NM_025137.4(SPG11):c.6876G>A (p.Gln2292=)
|
|
|
NM_025137.4(SPG11):c.6879G>A (p.Arg2293=)
|
|
|
NM_025137.4(SPG11):c.6879G>C (p.Arg2293=)
|
|
|
NM_025137.4(SPG11):c.6882C>T (p.Leu2294=)
|
|
|
NM_025137.4(SPG11):c.6884_6886del (p.Thr2295del)
|
rs1060501169
|
|
NM_025137.4(SPG11):c.6887A>C (p.Lys2296Thr)
|
rs889145962
|
|
NM_025137.4(SPG11):c.6889T>C (p.Leu2297=)
|
|
|
NM_025137.4(SPG11):c.6891G>A (p.Leu2297=)
|
rs2140913726
|
|
NM_025137.4(SPG11):c.6896C>A (p.Thr2299Asn)
|
rs780006264
|
|
NM_025137.4(SPG11):c.6896C>T (p.Thr2299Ile)
|
|
|
NM_025137.4(SPG11):c.6898_6899del (p.Leu2300fs)
|
rs312262786
|
|
NM_025137.4(SPG11):c.6899T>G (p.Leu2300Arg)
|
rs371334506
|
|
NM_025137.4(SPG11):c.6906T>A (p.Ile2302=)
|
|
|
NM_025137.4(SPG11):c.6907C>T (p.His2303Tyr)
|
rs777915558
|
|
NM_025137.4(SPG11):c.6912T>C (p.Phe2304=)
|
rs146914461
|
|
NM_025137.4(SPG11):c.6912T>G (p.Phe2304Leu)
|
rs146914461
|
|
NM_025137.4(SPG11):c.6915G>C (p.Leu2305=)
|
|
|
NM_025137.4(SPG11):c.6918C>T (p.Asn2306=)
|
|
|
NM_025137.4(SPG11):c.6921T>G (p.Thr2307=)
|
|
|
NM_025137.4(SPG11):c.6923G>C (p.Gly2308Ala)
|
|
|
NM_025137.4(SPG11):c.6925C>T (p.Gln2309Ter)
|
rs1595817021
|
|
NM_025137.4(SPG11):c.6927G>C (p.Gln2309His)
|
rs1555446429
|
|
NM_025137.4(SPG11):c.6928A>C (p.Asn2310His)
|
rs2140913625
|
|
NM_025137.4(SPG11):c.6930C>T (p.Asn2310=)
|
|
|
NM_025137.4(SPG11):c.6933A>C (p.Thr2311=)
|
|
|
NM_025137.4(SPG11):c.6934A>G (p.Met2312Val)
|
rs892306308
|
|
NM_025137.4(SPG11):c.693A>G (p.Thr231=)
|
|
|
NM_025137.4(SPG11):c.6945C>G (p.Asn2315Lys)
|
rs1322340631
|
|
NM_025137.4(SPG11):c.6946T>C (p.Leu2316=)
|
|
|
NM_025137.4(SPG11):c.6954C>T (p.Arg2318=)
|
|
|
NM_025137.4(SPG11):c.6961C>T (p.Leu2321=)
|
|
|
NM_025137.4(SPG11):c.6965T>C (p.Met2322Thr)
|
rs2082297271
|
|
NM_025137.4(SPG11):c.6967dup (p.Asp2323fs)
|
|
|
NM_025137.4(SPG11):c.696T>A (p.Tyr232Ter)
|
|
|
NM_025137.4(SPG11):c.6971_6972del (p.Cys2324fs)
|
rs780301639
|
|
NM_025137.4(SPG11):c.6971_6972dup (p.Ile2325fs)
|
|
|
NM_025137.4(SPG11):c.6976C>T (p.Leu2326=)
|
rs1437826237
|
|
NM_025137.4(SPG11):c.6977T>C (p.Leu2326Pro)
|
rs2082296961
|
|
NM_025137.4(SPG11):c.6981C>T (p.Ala2327=)
|
|
|
NM_025137.4(SPG11):c.6984A>G (p.Leu2328=)
|
rs1314352745
|
|
NM_025137.4(SPG11):c.6985C>T (p.Pro2329Ser)
|
rs1399660300
|
|
NM_025137.4(SPG11):c.6987T>A (p.Pro2329=)
|
|
|
NM_025137.4(SPG11):c.6993C>T (p.Phe2331=)
|
|
|
NM_025137.4(SPG11):c.6999+13G>A
|
rs948770162
|
|
NM_025137.4(SPG11):c.6999+148G>C
|
rs113977890
|
|
NM_025137.4(SPG11):c.6999+19T>C
|
|
|
NM_025137.4(SPG11):c.6999+1G>A
|
rs1191614292
|
|
NM_025137.4(SPG11):c.6999+1G>C
|
rs1191614292
|
|
NM_025137.4(SPG11):c.6999+1G>T
|
|
|
NM_025137.4(SPG11):c.6999+3G>A
|
|
|
NM_025137.4(SPG11):c.6999+8A>G
|
rs2140913450
|
|
NM_025137.4(SPG11):c.69G>T (p.Gly23=)
|
rs771750618
|
|
NM_025137.4(SPG11):c.69del (p.Arg24fs)
|
|
|
NM_025137.4(SPG11):c.7000-10T>G
|
rs1419777882
|
|
NM_025137.4(SPG11):c.7000-13C>T
|
|
|
NM_025137.4(SPG11):c.7000-15A>G
|
|
|
NM_025137.4(SPG11):c.7000-16C>T
|
|
|
NM_025137.4(SPG11):c.7000-18_7000-16del
|
rs777704346
|
|
NM_025137.4(SPG11):c.7000-20_7000-17dup
|
|
|
NM_025137.4(SPG11):c.7000-3_7000-2delinsGC
|
rs2140911612
|
|
NM_025137.4(SPG11):c.7000-3_7000-2insAGG
|
rs312262787
|
|
NM_025137.4(SPG11):c.7000-8C>G
|
rs886051177
|
|
NM_025137.4(SPG11):c.7000-8C>T
|
rs886051177
|
|
NM_025137.4(SPG11):c.7000-8_7000-4del
|
|
|
NM_025137.4(SPG11):c.7000-9C>T
|
|
|
NM_025137.4(SPG11):c.7000-9_7000-7del
|
rs2140911633
|
|
NM_025137.4(SPG11):c.7000G>C (p.Ala2334Pro)
|
|
|
NM_025137.4(SPG11):c.7002T>C (p.Ala2334=)
|
rs1555446158
|
|
NM_025137.4(SPG11):c.7006A>C (p.Ile2336Leu)
|
|
|
NM_025137.4(SPG11):c.7006A>G (p.Ile2336Val)
|
|
|
NM_025137.4(SPG11):c.7014T>C (p.Ala2338=)
|
rs1366630590
|
|
NM_025137.4(SPG11):c.7015G>A (p.Glu2339Lys)
|
rs753466044
|
|
NM_025137.4(SPG11):c.7017G>A (p.Glu2339=)
|
|
|
NM_025137.4(SPG11):c.7018G>A (p.Ala2340Thr)
|
|
|
NM_025137.4(SPG11):c.7018G>T (p.Ala2340Ser)
|
rs1375685761
|
|
NM_025137.4(SPG11):c.7023C>A (p.Tyr2341Ter)
|
rs80338869
|
|
NM_025137.4(SPG11):c.7023C>G (p.Tyr2341Ter)
|
|
|
NM_025137.4(SPG11):c.7024G>A (p.Asp2342Asn)
|
rs529842519
|
|
NM_025137.4(SPG11):c.7024G>T (p.Asp2342Tyr)
|
rs529842519
|
|
NM_025137.4(SPG11):c.7029dup (p.Val2344fs)
|
rs312262788
|
|
NM_025137.4(SPG11):c.7033C>T (p.Pro2345Ser)
|
|
|
NM_025137.4(SPG11):c.7038T>C (p.Asp2346=)
|
|
|
NM_025137.4(SPG11):c.7040G>C (p.Trp2347Ser)
|
|
|
NM_025137.4(SPG11):c.7043del (p.Ala2348fs)
|
|
|
NM_025137.4(SPG11):c.7048A>G (p.Ile2350Val)
|
rs780550991
|
|
NM_025137.4(SPG11):c.704A>G (p.His235Arg)
|
|
|
NM_025137.4(SPG11):c.7051T>C (p.Leu2351=)
|
|
|
NM_025137.4(SPG11):c.7055_7058dup (p.Gln2354fs)
|
rs2140911440
|
|
NM_025137.4(SPG11):c.7056C>A (p.Tyr2352Ter)
|
rs746329317
|
|
NM_025137.4(SPG11):c.7063_7073dup (p.Lys2358_Gly2359insTer)
|
rs2082272406
|
|
NM_025137.4(SPG11):c.7064T>C (p.Val2355Ala)
|
|
|
NM_025137.4(SPG11):c.7067_7071dup (p.Lys2358fs)
|
|
|
NM_025137.4(SPG11):c.7068T>C (p.Ile2356=)
|
|
|
NM_025137.4(SPG11):c.7071T>C (p.Leu2357=)
|
|
|
NM_025137.4(SPG11):c.7075G>C (p.Gly2359Arg)
|
|
|
NM_025137.4(SPG11):c.7079A>C (p.Asp2360Ala)
|
rs373463137
|
|
NM_025137.4(SPG11):c.7083dup (p.Asn2362Ter)
|
|
|
NM_025137.4(SPG11):c.7085_7088dup (p.Tyr2363Ter)
|
rs312262789
|
|
NM_025137.4(SPG11):c.7087_7115inv (p.Tyr2363_Leu2372delinsAsnLeuCysCysLeuAsnSerSerLysTer)
|
|
|
NM_025137.4(SPG11):c.7093_7094insCTT (p.Glu2365delinsAlaTer)
|
rs2140911376
|
|
NM_025137.4(SPG11):c.7098A>G (p.Glu2366=)
|
|
|
NM_025137.4(SPG11):c.70C>A (p.Arg24=)
|
|
|
NM_025137.4(SPG11):c.70C>G (p.Arg24Gly)
|
|
|
NM_025137.4(SPG11):c.7101dup (p.Lys2368Ter)
|
rs312262790
|
|
NM_025137.4(SPG11):c.7105C>T (p.Gln2369Ter)
|
rs1397432412
|
|
NM_025137.4(SPG11):c.7111A>C (p.Arg2371=)
|
|
|
NM_025137.4(SPG11):c.7112G>A (p.Arg2371Lys)
|
rs1595815301
|
|
NM_025137.4(SPG11):c.7112G>C (p.Arg2371Thr)
|
|
|
NM_025137.4(SPG11):c.7116A>G (p.Leu2372=)
|
rs1595815286
|
|
NM_025137.4(SPG11):c.7119A>G (p.Leu2373=)
|
|
|
NM_025137.4(SPG11):c.7142T>C (p.Ile2381Thr)
|
rs2082271089
|
|
NM_025137.4(SPG11):c.7145C>A (p.Ser2382Tyr)
|
rs1595815245
|
|
NM_025137.4(SPG11):c.7146C>A (p.Ser2382=)
|
|
|
NM_025137.4(SPG11):c.7150A>T (p.Lys2384Ter)
|
rs1555446078
|
|
NM_025137.4(SPG11):c.7151+11A>C
|
rs779150349
|
|
NM_025137.4(SPG11):c.7151+11A>G
|
|
|
NM_025137.4(SPG11):c.7151+14G>A
|
|
|
NM_025137.4(SPG11):c.7151+14_7151+15insC
|
|
|
NM_025137.4(SPG11):c.7151+19C>G
|
|
|
NM_025137.4(SPG11):c.7151+302C>T
|
rs8041448
|
|
NM_025137.4(SPG11):c.7151+4_7151+7del
|
rs312262791
|
|
NM_025137.4(SPG11):c.7151+6T>C
|
|
|
NM_025137.4(SPG11):c.7151+7A>T
|
|
|
NM_025137.4(SPG11):c.7151+8T>C
|
rs772301782
|
|
NM_025137.4(SPG11):c.7152-10C>T
|
|
|
NM_025137.4(SPG11):c.7152-16_7152-14dup
|
|
|
NM_025137.4(SPG11):c.7152-16_7152-15del
|
rs755786903
|
|
NM_025137.4(SPG11):c.7152-17T>G
|
|
|
NM_025137.4(SPG11):c.7152-19A>C
|
|
|
NM_025137.4(SPG11):c.7152-2A>G
|
|
|
NM_025137.4(SPG11):c.7152-45A>G
|
rs1391440047
|
|
NM_025137.4(SPG11):c.7152-6A>G
|
rs2082233766
|
|
NM_025137.4(SPG11):c.7152-9_7152-8insGTTTC
|
rs2140908346
|
|
NM_025137.4(SPG11):c.7153T>C (p.Tyr2385His)
|
rs1386550783
|
|
NM_025137.4(SPG11):c.7155T>A (p.Tyr2385Ter)
|
rs778305085
|
|
NM_025137.4(SPG11):c.7155T>G (p.Tyr2385Ter)
|
rs778305085
|
|
NM_025137.4(SPG11):c.7158ACA[1] (p.Gln2387del)
|
rs376599651
|
|
NM_025137.4(SPG11):c.7158_7159insACAA (p.Gln2387fs)
|
rs312262792
|
|
NM_025137.4(SPG11):c.7158_7161dup (p.His2388fs)
|
rs1567123492
|
|
NM_025137.4(SPG11):c.7162C>A (p.His2388Asn)
|
rs1567123486
|
|
NM_025137.4(SPG11):c.7168C>T (p.Pro2390Ser)
|
|
|
NM_025137.4(SPG11):c.7169dup (p.Thr2391fs)
|
rs2140908233
|
|
NM_025137.4(SPG11):c.7187A>G (p.Glu2396Gly)
|
|
|
NM_025137.4(SPG11):c.7187_7211dup (p.Tyr2404Ter)
|
rs1595812586
|
|
NM_025137.4(SPG11):c.71G>A (p.Arg24Gln)
|
rs1239788614
|
|
NM_025137.4(SPG11):c.7201_7218del (p.Leu2401_Glu2406del)
|
rs1490325672
|
|
NM_025137.4(SPG11):c.7203A>G (p.Leu2401=)
|
rs886051176
|
|
NM_025137.4(SPG11):c.7203dup (p.Leu2402fs)
|
|
|
NM_025137.4(SPG11):c.7205T>C (p.Leu2402Pro)
|
|
|
NM_025137.4(SPG11):c.7205_7208del (p.Leu2402fs)
|
|
|
NM_025137.4(SPG11):c.7208C>T (p.Thr2403Ile)
|
|
|
NM_025137.4(SPG11):c.7221T>C (p.Asp2407=)
|
|
|
NM_025137.4(SPG11):c.7223T>G (p.Val2408Gly)
|
|
|
NM_025137.4(SPG11):c.7228C>T (p.Leu2410=)
|
|
|
NM_025137.4(SPG11):c.722A>T (p.His241Leu)
|
rs993836774
|
|
NM_025137.4(SPG11):c.7231T>A (p.Tyr2411Asn)
|
|
|
NM_025137.4(SPG11):c.7232_7235dup (p.Tyr2412Ter)
|
|
|
NM_025137.4(SPG11):c.7237A>G (p.Lys2413Glu)
|
|
|
NM_025137.4(SPG11):c.7240T>C (p.Leu2414=)
|
|
|
NM_025137.4(SPG11):c.7244C>A (p.Ala2415Glu)
|
rs1060501177
|
|
NM_025137.4(SPG11):c.7248C>T (p.Tyr2416=)
|
rs763259072
|
|
NM_025137.4(SPG11):c.7249G>T (p.Glu2417Ter)
|
rs371313584
|
|
NM_025137.4(SPG11):c.7249_7251delinsCTGTT (p.Glu2417fs)
|
rs864622190
|
|
NM_025137.4(SPG11):c.7253A>G (p.His2418Arg)
|
rs1555445707
|
|
NM_025137.4(SPG11):c.7254C>T (p.His2418=)
|
rs2082229551
|
|
NM_025137.4(SPG11):c.7255_7258dup (p.Phe2420Ter)
|
|
|
NM_025137.4(SPG11):c.7258T>C (p.Phe2420Leu)
|
rs779900397
|
|
NM_025137.4(SPG11):c.7266A>C (p.Glu2422Asp)
|
rs1229173974
|
|
NM_025137.4(SPG11):c.7266A>G (p.Glu2422=)
|
rs1229173974
|
|
NM_025137.4(SPG11):c.7268T>G (p.Ile2423Ser)
|
|
|
NM_025137.4(SPG11):c.726A>C (p.Lys242Asn)
|
rs1369058889
|
|
NM_025137.4(SPG11):c.7276G>A (p.Val2426Met)
|
rs1358019293
|
|
NM_025137.4(SPG11):c.727del (p.Glu243fs)
|
|
|
NM_025137.4(SPG11):c.7281T>G (p.Leu2427=)
|
|
|
NM_025137.4(SPG11):c.7292dup (p.Gln2432fs)
|
rs2140907988
|
|
NM_025137.4(SPG11):c.72G>C (p.Arg24=)
|
|
|
NM_025137.4(SPG11):c.72G>T (p.Arg24=)
|
|
|
NM_025137.4(SPG11):c.7300G>A (p.Gly2434Ser)
|
rs2082228032
|
|
NM_025137.4(SPG11):c.7301G>C (p.Gly2434Ala)
|
rs755064786
|
|
NM_025137.4(SPG11):c.7302T>G (p.Gly2434=)
|
|
|
NM_025137.4(SPG11):c.7307G>A (p.Cys2436Tyr)
|
|
|
NM_025137.4(SPG11):c.7311A>G (p.Leu2437=)
|
|
|
NM_025137.4(SPG11):c.7313A>G (p.Lys2438Arg)
|
rs766552088
|
|
NM_025137.4(SPG11):c.7318A>C (p.Met2440Leu)
|
rs1595812352
|
|
NM_025137.4(SPG11):c.7321_7328del (p.Ala2442fs)
|
rs2140907903
|
|
NM_025137.4(SPG11):c.7324G>A (p.Ala2442Thr)
|
rs765644977
|
|
NM_025137.4(SPG11):c.7324G>C (p.Ala2442Pro)
|
rs765644977
|
|
NM_025137.4(SPG11):c.7325C>T (p.Ala2442Val)
|
rs762374689
|
|
NM_025137.4(SPG11):c.733A>C (p.Met245Leu)
|
|
|
NM_025137.4(SPG11):c.734T>G (p.Met245Arg)
|
|
|
NM_025137.4(SPG11):c.739A>G (p.Asn247Asp)
|
rs1483558811
|
|
NM_025137.4(SPG11):c.749_750insCTG (p.Gln250delinsHisTer)
|
|
|
NM_025137.4(SPG11):c.75T>C (p.Val25=)
|
rs1566838661
|
|
NM_025137.4(SPG11):c.76C>G (p.Leu26Val)
|
|
|
NM_025137.4(SPG11):c.772T>C (p.Ser258Pro)
|
rs1555382900
|
|
NM_025137.4(SPG11):c.773dup (p.Phe259fs)
|
rs2141121011
|
|
NM_025137.4(SPG11):c.777_781del (p.Ser261fs)
|
rs2084965242
|
|
NM_025137.4(SPG11):c.782C>A (p.Ser261Ter)
|
rs765477482
|
|
NM_025137.4(SPG11):c.782C>T (p.Ser261Leu)
|
rs765477482
|
|
NM_025137.4(SPG11):c.784C>T (p.Leu262=)
|
rs2141120986
|
|
NM_025137.4(SPG11):c.786G>C (p.Leu262=)
|
rs754239754
|
|
NM_025137.4(SPG11):c.792T>G (p.Val264=)
|
rs1595935176
|
|
NM_025137.4(SPG11):c.798A>G (p.Gln266=)
|
rs1451442272
|
|
NM_025137.4(SPG11):c.7G>A (p.Ala3Thr)
|
rs1450340724
|
|
NM_025137.4(SPG11):c.801C>T (p.Asp267=)
|
rs1555382889
|
|
NM_025137.4(SPG11):c.813A>G (p.Ala271=)
|
|
|
NM_025137.4(SPG11):c.814G>A (p.Val272Met)
|
|
|
NM_025137.4(SPG11):c.817A>G (p.Ile273Val)
|
|
|
NM_025137.4(SPG11):c.817_820dup (p.Val274fs)
|
rs2084963365
|
|
NM_025137.4(SPG11):c.819T>G (p.Ile273Met)
|
rs1232225260
|
|
NM_025137.4(SPG11):c.819dup (p.Val274fs)
|
|
|
NM_025137.4(SPG11):c.81G>A (p.Pro27=)
|
|
|
NM_025137.4(SPG11):c.81G>T (p.Pro27=)
|
|
|
NM_025137.4(SPG11):c.821T>C (p.Val274Ala)
|
rs1050146375
|
|
NM_025137.4(SPG11):c.824G>A (p.Ser275Asn)
|
rs769608648
|
|
NM_025137.4(SPG11):c.824G>T (p.Ser275Ile)
|
rs769608648
|
|
NM_025137.4(SPG11):c.827C>G (p.Ser276Cys)
|
rs1595935078
|
|
NM_025137.4(SPG11):c.831C>T (p.Ser277=)
|
rs1595935061
|
|
NM_025137.4(SPG11):c.833A>G (p.Asn278Ser)
|
rs75309308
|
|
NM_025137.4(SPG11):c.833A>T (p.Asn278Ile)
|
rs75309308
|
|
NM_025137.4(SPG11):c.835T>C (p.Ser279Pro)
|
|
|
NM_025137.4(SPG11):c.846T>A (p.Ala282=)
|
|
|
NM_025137.4(SPG11):c.852_856del (p.Asn284fs)
|
rs1595935001
|
|
NM_025137.4(SPG11):c.857A>G (p.Asn286Ser)
|
rs2084961885
|
|
NM_025137.4(SPG11):c.859T>C (p.Leu287=)
|
|
|
NM_025137.4(SPG11):c.85C>T (p.Leu29=)
|
|
|
NM_025137.4(SPG11):c.861G>T (p.Leu287Phe)
|
|
|
NM_025137.4(SPG11):c.869+10T>A
|
|
|
NM_025137.4(SPG11):c.869+11G>A
|
|
|
NM_025137.4(SPG11):c.869+12A>C
|
|
|
NM_025137.4(SPG11):c.869+13C>G
|
|
|
NM_025137.4(SPG11):c.869+1G>A
|
rs312262721
|
|
NM_025137.4(SPG11):c.869+1G>T
|
rs312262721
|
|
NM_025137.4(SPG11):c.869+3A>G
|
|
|
NM_025137.4(SPG11):c.870-13T>C
|
|
|
NM_025137.4(SPG11):c.870-4dup
|
|
|
NM_025137.4(SPG11):c.870-5T>C
|
|
|
NM_025137.4(SPG11):c.870-9T>G
|
|
|
NM_025137.4(SPG11):c.877C>T (p.Pro293Ser)
|
rs919363085
|
|
NM_025137.4(SPG11):c.87G>A (p.Leu29=)
|
|
|
NM_025137.4(SPG11):c.881G>T (p.Gly294Val)
|
|
|
NM_025137.4(SPG11):c.888A>G (p.Leu296=)
|
rs2084804985
|
|
NM_025137.4(SPG11):c.889C>G (p.Leu297Val)
|
rs751101312
|
|
NM_025137.4(SPG11):c.891G>T (p.Leu297=)
|
|
|
NM_025137.4(SPG11):c.894T>C (p.Cys298=)
|
|
|
NM_025137.4(SPG11):c.896A>G (p.Glu299Gly)
|
|
|
NM_025137.4(SPG11):c.898A>C (p.Arg300=)
|
|
|
NM_025137.4(SPG11):c.8C>T (p.Ala3Val)
|
|
|
NM_025137.4(SPG11):c.902T>A (p.Ile301Lys)
|
rs1032246775
|
|
NM_025137.4(SPG11):c.902T>C (p.Ile301Thr)
|
rs1032246775
|
|
NM_025137.4(SPG11):c.903A>C (p.Ile301=)
|
rs2141108395
|
|
NM_025137.4(SPG11):c.90G>A (p.Leu30=)
|
|
|
NM_025137.4(SPG11):c.916C>T (p.Pro306Ser)
|
rs776413713
|
|
NM_025137.4(SPG11):c.918T>A (p.Pro306=)
|
rs147614121
|
|
NM_025137.4(SPG11):c.918T>C (p.Pro306=)
|
|
|
NM_025137.4(SPG11):c.925G>T (p.Gly309Ter)
|
rs760659950
|
|
NM_025137.4(SPG11):c.926G>C (p.Gly309Ala)
|
|
|
NM_025137.4(SPG11):c.929C>T (p.Pro310Leu)
|
|
|
NM_025137.4(SPG11):c.935G>T (p.Gly312Val)
|
|
|
NM_025137.4(SPG11):c.936C>G (p.Gly312=)
|
|
|
NM_025137.4(SPG11):c.939A>G (p.Val313=)
|
|
|
NM_025137.4(SPG11):c.939A>T (p.Val313=)
|
rs2141108255
|
|
NM_025137.4(SPG11):c.941A>T (p.Asp314Val)
|
|
|
NM_025137.4(SPG11):c.949G>A (p.Asp317Asn)
|
rs773433816
|
|
NM_025137.4(SPG11):c.953del (p.Pro318fs)
|
rs2141108180
|
|
NM_025137.4(SPG11):c.959A>G (p.Asn320Ser)
|
rs2084802198
|
|
NM_025137.4(SPG11):c.962C>G (p.Ser321Cys)
|
rs2141108155
|
|
NM_025137.4(SPG11):c.965C>T (p.Ala322Val)
|
|
|
NM_025137.4(SPG11):c.966C>T (p.Ala322=)
|
|
|
NM_025137.4(SPG11):c.96A>G (p.Pro32=)
|
|
|
NM_025137.4(SPG11):c.970A>C (p.Asn324His)
|
rs997623054
|
|
NM_025137.4(SPG11):c.973A>G (p.Met325Val)
|
|
|
NM_025137.4(SPG11):c.979C>T (p.Leu327=)
|
|
|
NM_025137.4(SPG11):c.981G>C (p.Leu327=)
|
|
|
NM_025137.4(SPG11):c.986A>G (p.Lys329Arg)
|
rs2084801193
|
|
NM_025137.4(SPG11):c.987G>A (p.Lys329=)
|
|
|
NM_025137.4(SPG11):c.98T>C (p.Val33Ala)
|
rs1555384018
|
|
NM_025137.4(SPG11):c.991T>G (p.Ser331Ala)
|
|
|
NM_025137.4(SPG11):c.992C>T (p.Ser331Phe)
|
|
|
NM_025137.4(SPG11):c.996C>T (p.Phe332=)
|
|
|
NM_025137.4(SPG11):c.999A>G (p.Gln333=)
|
rs753613456
|
|
NM_025137.4(SPG11):c.99C>G (p.Val33=)
|
|
|
NM_025137.4(SPG11):c.99C>T (p.Val33=)
|
rs1162532550
|
|
NM_025137.4:c.(5866+1_5867-1)_(6477+1_6478-1)del
|
|
|