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.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.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.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.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.6344-28C>T
|
rs199934817
|
0.00070
|
NM_025137.4(SPG11):c.1384T>C (p.Cys462Arg)
|
rs139019255
|
0.00058
|
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.1126A>G (p.Asn376Asp)
|
rs199765540
|
0.00041
|
NM_025137.4(SPG11):c.3486T>C (p.Phe1162=)
|
rs139532029
|
0.00039
|
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.2445-20A>T
|
rs545137154
|
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.1457-20A>C
|
rs376343587
|
0.00024
|
NM_025137.4(SPG11):c.491C>T (p.Ser164Leu)
|
rs148175530
|
0.00024
|
NM_025137.4(SPG11):c.6010T>G (p.Leu2004Val)
|
rs200220848
|
0.00022
|
NM_025137.4(SPG11):c.2897G>A (p.Arg966His)
|
rs200281262
|
0.00019
|
NM_025137.4(SPG11):c.4873C>T (p.Leu1625Phe)
|
rs371716779
|
0.00017
|
NM_025137.4(SPG11):c.1433A>G (p.Gln478Arg)
|
rs142428867
|
0.00016
|
NM_025137.4(SPG11):c.5315G>A (p.Arg1772His)
|
rs150823040
|
0.00016
|
NM_025137.4(SPG11):c.6878G>A (p.Arg2293Gln)
|
rs201721414
|
0.00016
|
NM_025137.4(SPG11):c.1121C>G (p.Ser374Cys)
|
rs144403346
|
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.2075T>C (p.Ile692Thr)
|
rs144012151
|
0.00013
|
NM_025137.4(SPG11):c.4365G>C (p.Trp1455Cys)
|
rs138103656
|
0.00011
|
NM_025137.4(SPG11):c.5381T>C (p.Leu1794Pro)
|
rs201689565
|
0.00011
|
NM_025137.4(SPG11):c.7132T>C (p.Phe2378Leu)
|
rs150571352
|
0.00009
|
NM_025137.4(SPG11):c.5966A>G (p.Asn1989Ser)
|
rs375896392
|
0.00008
|
NM_025137.4(SPG11):c.1801C>A (p.Pro601Thr)
|
rs775799559
|
0.00007
|
NM_025137.4(SPG11):c.1939A>G (p.Ile647Val)
|
rs375256495
|
0.00006
|
NM_025137.4(SPG11):c.2669G>A (p.Arg890His)
|
rs376143651
|
0.00006
|
NM_025137.4(SPG11):c.5793C>G (p.Ile1931Met)
|
rs781271890
|
0.00006
|
NM_025137.4(SPG11):c.6424G>A (p.Ala2142Thr)
|
rs141035224
|
0.00006
|
NM_025137.4(SPG11):c.7249G>A (p.Glu2417Lys)
|
rs371313584
|
0.00006
|
NM_025137.4(SPG11):c.1085G>A (p.Trp362Ter)
|
rs140385286
|
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.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.1348dup (p.Ile450fs)
|
rs312262725
|
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.6988C>T (p.Arg2330Trp)
|
rs775295729
|
0.00004
|
NM_025137.4(SPG11):c.7202T>C (p.Leu2401Ser)
|
rs139812925
|
0.00004
|
NM_025137.4(SPG11):c.2577A>G (p.Gln859=)
|
rs753130399
|
0.00003
|
NM_025137.4(SPG11):c.2834+1G>T
|
rs312262749
|
0.00003
|
NM_025137.4(SPG11):c.3292-1G>T
|
rs201217015
|
0.00003
|
NM_025137.4(SPG11):c.3551G>T (p.Ser1184Ile)
|
rs766403944
|
0.00003
|
NM_025137.4(SPG11):c.361A>C (p.Lys121Gln)
|
rs778960331
|
0.00003
|
NM_025137.4(SPG11):c.4070T>C (p.Leu1357Pro)
|
rs367550468
|
0.00003
|
NM_025137.4(SPG11):c.4972C>T (p.His1658Tyr)
|
rs775877332
|
0.00003
|
NM_025137.4(SPG11):c.5362G>A (p.Val1788Met)
|
rs200918991
|
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.6621C>G (p.Ile2207Met)
|
rs758008249
|
0.00003
|
NM_025137.4(SPG11):c.176C>T (p.Ala59Val)
|
rs552320263
|
0.00002
|
NM_025137.4(SPG11):c.2280C>T (p.Cys760=)
|
rs567932275
|
0.00002
|
NM_025137.4(SPG11):c.2299A>G (p.Asn767Asp)
|
rs370774571
|
0.00002
|
NM_025137.4(SPG11):c.2317-13C>G
|
rs372670941
|
0.00002
|
NM_025137.4(SPG11):c.5623C>T (p.Gln1875Ter)
|
rs141848292
|
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.1207C>T (p.His403Tyr)
|
rs1331463203
|
0.00001
|
NM_025137.4(SPG11):c.1621C>T (p.Gln541Ter)
|
rs765061840
|
0.00001
|
NM_025137.4(SPG11):c.2316+1G>A
|
rs312262740
|
0.00001
|
NM_025137.4(SPG11):c.2717A>G (p.Gln906Arg)
|
rs2083706533
|
0.00001
|
NM_025137.4(SPG11):c.3039-5T>G
|
rs763224175
|
0.00001
|
NM_025137.4(SPG11):c.3265A>G (p.Met1089Val)
|
rs766016524
|
0.00001
|
NM_025137.4(SPG11):c.3292-6dup
|
rs777377848
|
0.00001
|
NM_025137.4(SPG11):c.3453+5A>G
|
rs983973496
|
0.00001
|
NM_025137.4(SPG11):c.3538C>A (p.Pro1180Thr)
|
rs747910594
|
0.00001
|
NM_025137.4(SPG11):c.4002G>C (p.Arg1334Ser)
|
rs1085307814
|
0.00001
|
NM_025137.4(SPG11):c.4742C>T (p.Thr1581Met)
|
rs766297012
|
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.5158C>T (p.Gln1720Ter)
|
rs1060501173
|
0.00001
|
NM_025137.4(SPG11):c.5189T>G (p.Phe1730Cys)
|
rs755382678
|
0.00001
|
NM_025137.4(SPG11):c.5470C>T (p.Arg1824Ter)
|
rs312262767
|
0.00001
|
NM_025137.4(SPG11):c.5772_5781dup (p.His1928fs)
|
rs779321661
|
0.00001
|
NM_025137.4(SPG11):c.5974C>T (p.Arg1992Ter)
|
rs200793464
|
0.00001
|
NM_025137.4(SPG11):c.5986dup (p.Cys1996fs)
|
rs312262775
|
0.00001
|
NM_025137.4(SPG11):c.6017G>A (p.Cys2006Tyr)
|
rs1179229360
|
0.00001
|
NM_025137.4(SPG11):c.6092G>A (p.Arg2031Gln)
|
rs1365555358
|
0.00001
|
NM_025137.4(SPG11):c.6175C>T (p.Arg2059Trp)
|
rs755438310
|
0.00001
|
NM_025137.4(SPG11):c.6409C>T (p.Arg2137Ter)
|
rs769898852
|
0.00001
|
NM_025137.4(SPG11):c.6526T>C (p.Phe2176Leu)
|
rs752165478
|
0.00001
|
NM_025137.4(SPG11):c.6790C>G (p.Leu2264Val)
|
rs1264367885
|
0.00001
|
NM_025137.4(SPG11):c.6856C>T (p.Arg2286Ter)
|
rs312262785
|
0.00001
|
NM_025137.4(SPG11):c.6899T>C (p.Leu2300Pro)
|
rs371334506
|
0.00001
|
NM_025137.4(SPG11):c.796C>T (p.Gln266Ter)
|
rs1234882277
|
0.00001
|
NM_025137.4(SPG11):c.1007+56G>C
|
rs114629245
|
|
NM_025137.4(SPG11):c.1007G>A (p.Arg336Lys)
|
rs892937993
|
|
NM_025137.4(SPG11):c.1097T>G (p.Ile366Ser)
|
rs2084790037
|
|
NM_025137.4(SPG11):c.1189A>T (p.Asn397Tyr)
|
rs2084784763
|
|
NM_025137.4(SPG11):c.1225C>T (p.Pro409Ser)
|
|
|
NM_025137.4(SPG11):c.1292C>G (p.Ser431Cys)
|
rs886051183
|
|
NM_025137.4(SPG11):c.1377C>T (p.Gly459=)
|
rs768183449
|
|
NM_025137.4(SPG11):c.1457-190del
|
rs35146282
|
|
NM_025137.4(SPG11):c.14A>G (p.Glu5Gly)
|
rs911119510
|
|
NM_025137.4(SPG11):c.1571G>A (p.Gly524Glu)
|
rs773146881
|
|
NM_025137.4(SPG11):c.1603-309G>C
|
rs116483186
|
|
NM_025137.4(SPG11):c.1603-54dup
|
rs199611470
|
|
NM_025137.4(SPG11):c.1679C>G (p.Ser560Ter)
|
rs312262732
|
|
NM_025137.4(SPG11):c.1736-193A>C
|
rs145544135
|
|
NM_025137.4(SPG11):c.2068-2A>T
|
rs1555456457
|
|
NM_025137.4(SPG11):c.2078C>T (p.Ala693Val)
|
rs1329366922
|
|
NM_025137.4(SPG11):c.2081G>T (p.Ser694Ile)
|
|
|
NM_025137.4(SPG11):c.2146C>T (p.Gln716Ter)
|
rs312262737
|
|
NM_025137.4(SPG11):c.2244+215C>A
|
rs149620992
|
|
NM_025137.4(SPG11):c.2244+271dup
|
rs200813714
|
|
NM_025137.4(SPG11):c.2265del (p.Gln755fs)
|
rs1215058780
|
|
NM_025137.4(SPG11):c.2316+63G>T
|
rs117989754
|
|
NM_025137.4(SPG11):c.2443A>G (p.Arg815Gly)
|
|
|
NM_025137.4(SPG11):c.2445-20del
|
rs374899647
|
|
NM_025137.4(SPG11):c.2445-32dup
|
rs374899647
|
|
NM_025137.4(SPG11):c.251T>C (p.Phe84Ser)
|
rs2085177672
|
|
NM_025137.4(SPG11):c.257+17A>G
|
rs201878138
|
|
NM_025137.4(SPG11):c.258-6del
|
rs373234269
|
|
NM_025137.4(SPG11):c.2621-153_2621-150del
|
rs137921465
|
|
NM_025137.4(SPG11):c.2621-15dup
|
rs577083743
|
|
NM_025137.4(SPG11):c.267G>A (p.Trp89Ter)
|
rs312262709
|
|
NM_025137.4(SPG11):c.2757_2775del (p.Leu920fs)
|
rs1595888828
|
|
NM_025137.4(SPG11):c.27_28insCA (p.Ala10fs)
|
rs1595945569
|
|
NM_025137.4(SPG11):c.2849dup (p.Leu950fs)
|
rs1470463921
|
|
NM_025137.4(SPG11):c.2877C>A (p.Cys959Ter)
|
rs786204176
|
|
NM_025137.4(SPG11):c.2912_2914delinsGAT (p.Ile971_Gln972delinsArgTer)
|
rs1555454508
|
|
NM_025137.4(SPG11):c.3039-10T>G
|
rs1567163243
|
|
NM_025137.4(SPG11):c.3075dup (p.Glu1026fs)
|
rs312262752
|
|
NM_025137.4(SPG11):c.3260_3267dup (p.Tyr1090fs)
|
rs1555453727
|
|
NM_025137.4(SPG11):c.3311dup (p.Asn1104fs)
|
rs753257469
|
|
NM_025137.4(SPG11):c.3321_3324del (p.Asn1106_Cys1107insTer)
|
rs768131119
|
|
NM_025137.4(SPG11):c.3686+2T>A
|
rs1555451983
|
|
NM_025137.4(SPG11):c.3711dup (p.Tyr1238fs)
|
rs750663981
|
|
NM_025137.4(SPG11):c.3818A>C (p.Lys1273Thr)
|
rs76389165
|
|
NM_025137.4(SPG11):c.3901C>A (p.Leu1301Ile)
|
rs2140977252
|
|
NM_025137.4(SPG11):c.3975_3993del (p.Asn1325fs)
|
rs1555451417
|
|
NM_025137.4(SPG11):c.3980T>C (p.Ile1327Thr)
|
|
|
NM_025137.4(SPG11):c.4002-168del
|
rs201600828
|
|
NM_025137.4(SPG11):c.4002-169_4002-168del
|
rs201600828
|
|
NM_025137.4(SPG11):c.4002-187dup
|
rs201600828
|
|
NM_025137.4(SPG11):c.4002-3T>G
|
|
|
NM_025137.4(SPG11):c.4042C>T (p.Gln1348Ter)
|
rs1555451152
|
|
NM_025137.4(SPG11):c.4162-10T>G
|
|
|
NM_025137.4(SPG11):c.4436G>A (p.Gly1479Asp)
|
rs374303102
|
|
NM_025137.4(SPG11):c.4529C>T (p.Thr1510Ile)
|
|
|
NM_025137.4(SPG11):c.4598G>A (p.Ser1533Asn)
|
|
|
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.4773dup (p.Val1592fs)
|
rs1064795062
|
|
NM_025137.4(SPG11):c.4777del (p.Ile1593fs)
|
rs1064797055
|
|
NM_025137.4(SPG11):c.4804G>T (p.Val1602Leu)
|
rs754536969
|
|
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.5047G>A (p.Asp1683Asn)
|
|
|
NM_025137.4(SPG11):c.5121+121A>G
|
rs534150787
|
|
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+185_5121+186dup
|
rs67858533
|
|
NM_025137.4(SPG11):c.5121+185dup
|
rs67858533
|
|
NM_025137.4(SPG11):c.5121+32_5121+33del
|
rs34800368
|
|
NM_025137.4(SPG11):c.5121+33del
|
rs34800368
|
|
NM_025137.4(SPG11):c.5135T>G (p.Met1712Arg)
|
rs1555448989
|
|
NM_025137.4(SPG11):c.528T>G (p.Ile176Met)
|
|
|
NM_025137.4(SPG11):c.5453C>G (p.Thr1818Arg)
|
rs2140946992
|
|
NM_025137.4(SPG11):c.5497T>G (p.Ser1833Ala)
|
rs766375553
|
|
NM_025137.4(SPG11):c.56C>T (p.Thr19Ile)
|
rs1555384052
|
|
NM_025137.4(SPG11):c.5710T>G (p.Tyr1904Asp)
|
rs2082705435
|
|
NM_025137.4(SPG11):c.5769del (p.Ser1923fs)
|
rs312262770
|
|
NM_025137.4(SPG11):c.5769dup (p.Met1924fs)
|
rs1595842556
|
|
NM_025137.4(SPG11):c.5842dup (p.Ile1948fs)
|
rs1555448810
|
|
NM_025137.4(SPG11):c.5989_5992del (p.Leu1997fs)
|
rs312262776
|
|
NM_025137.4(SPG11):c.6007-13G>C
|
rs914339608
|
|
NM_025137.4(SPG11):c.6007-282_6007-281del
|
rs141674769
|
|
NM_025137.4(SPG11):c.6091C>T (p.Arg2031Ter)
|
rs147713329
|
|
NM_025137.4(SPG11):c.6305A>G (p.Asp2102Gly)
|
|
|
NM_025137.4(SPG11):c.6477+13del
|
rs574960359
|
|
NM_025137.4(SPG11):c.6478-214del
|
rs1047071923
|
|
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.6586-7T>C
|
rs1057524222
|
|
NM_025137.4(SPG11):c.6739_6742del (p.Glu2247fs)
|
rs312262782
|
|
NM_025137.4(SPG11):c.6754+233_6754+239del
|
rs138766339
|
|
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.6755-17_6755-15del
|
rs143026515
|
|
NM_025137.4(SPG11):c.6755-3C>G
|
rs1177654504
|
|
NM_025137.4(SPG11):c.6785AAC[1] (p.Gln2263del)
|
rs1384234762
|
|
NM_025137.4(SPG11):c.6971_6972del (p.Cys2324fs)
|
rs780301639
|
|
NM_025137.4(SPG11):c.6999+148G>C
|
rs113977890
|
|
NM_025137.4(SPG11):c.7048A>G (p.Ile2350Val)
|
rs780550991
|
|
NM_025137.4(SPG11):c.7151+302C>T
|
rs8041448
|
|
NM_025137.4(SPG11):c.7155T>G (p.Tyr2385Ter)
|
rs778305085
|
|
NM_025137.4(SPG11):c.7237A>G (p.Lys2413Glu)
|
|
|
NM_025137.4(SPG11):c.801C>T (p.Asp267=)
|
rs1555382889
|
|
NM_025137.4(SPG11):c.824G>T (p.Ser275Ile)
|
rs769608648
|
|
NM_025137.4(SPG11):c.833A>G (p.Asn278Ser)
|
rs75309308
|
|
NM_025137.4(SPG11):c.833A>T (p.Asn278Ile)
|
rs75309308
|
|