NM_025137.4(SPG11):c.1388T>C (p.Phe463Ser)
|
rs3759871
|
0.48431
|
NM_025137.4(SPG11):c.3420G>A (p.Leu1140=)
|
rs36014111
|
0.03348
|
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.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.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.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.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.4578A>G (p.Thr1526=)
|
rs151137503
|
0.00267
|
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.1906C>T (p.Leu636=)
|
rs145316065
|
0.00057
|
NM_025137.4(SPG11):c.7152-14_7152-10dup
|
rs566399432
|
0.00050
|
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.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.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.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.2265A>G (p.Gln755=)
|
rs142909555
|
0.00020
|
NM_025137.4(SPG11):c.5121+12C>G
|
rs199766848
|
0.00020
|
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.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.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.4410C>T (p.Leu1470=)
|
rs145579121
|
0.00014
|
NM_025137.4(SPG11):c.6877C>T (p.Arg2293Trp)
|
rs151317653
|
0.00014
|
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.45T>C (p.Gly15=)
|
rs371828554
|
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.3549T>G (p.Ser1183=)
|
rs751428578
|
0.00011
|
NM_025137.4(SPG11):c.4365G>C (p.Trp1455Cys)
|
rs138103656
|
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.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.6278G>A (p.Arg2093His)
|
rs376817637
|
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.6205+12C>G
|
rs373329133
|
0.00008
|
NM_025137.4(SPG11):c.1801C>A (p.Pro601Thr)
|
rs775799559
|
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.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.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.2082C>T (p.Ser694=)
|
rs375179506
|
0.00006
|
NM_025137.4(SPG11):c.2484T>C (p.Ser828=)
|
rs199707089
|
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.4692T>C (p.Asn1564=)
|
rs149056712
|
0.00006
|
NM_025137.4(SPG11):c.5866+10G>A
|
rs375944318
|
0.00006
|
NM_025137.4(SPG11):c.6387G>A (p.Thr2129=)
|
rs150121550
|
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.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.1354C>T (p.Leu452Phe)
|
rs141396952
|
0.00005
|
NM_025137.4(SPG11):c.3425C>G (p.Ser1142Cys)
|
rs201082396
|
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.1821A>G (p.Ser607=)
|
rs181229662
|
0.00004
|
NM_025137.4(SPG11):c.1891+16A>G
|
rs557248278
|
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.3292-7T>C
|
rs1595876068
|
0.00004
|
NM_025137.4(SPG11):c.3343C>T (p.Leu1115=)
|
rs374565265
|
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.3867G>A (p.Gln1289=)
|
rs940673994
|
0.00004
|
NM_025137.4(SPG11):c.4907-13C>G
|
rs778489486
|
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.78A>G (p.Leu26=)
|
rs753713965
|
0.00004
|
NM_025137.4(SPG11):c.1131C>T (p.His377=)
|
rs148613119
|
0.00003
|
NM_025137.4(SPG11):c.1494A>G (p.Gln498=)
|
rs760202776
|
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.2067+9G>A
|
rs751899105
|
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.2834+20A>G
|
rs368325394
|
0.00003
|
NM_025137.4(SPG11):c.3228A>G (p.Leu1076=)
|
rs375911466
|
0.00003
|
NM_025137.4(SPG11):c.3453+8A>G
|
rs1380778736
|
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.4137A>G (p.Gln1379=)
|
rs748617459
|
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.5520G>A (p.Glu1840=)
|
rs776721395
|
0.00003
|
NM_025137.4(SPG11):c.5613T>C (p.Asp1871=)
|
rs146251582
|
0.00003
|
NM_025137.4(SPG11):c.5817G>A (p.Glu1939=)
|
rs146961070
|
0.00003
|
NM_025137.4(SPG11):c.6062G>A (p.Arg2021Gln)
|
rs375420533
|
0.00003
|
NM_025137.4(SPG11):c.6402C>T (p.Gly2134=)
|
rs745801884
|
0.00003
|
NM_025137.4(SPG11):c.6586-8C>T
|
rs778033975
|
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.1182G>A (p.Gly394=)
|
rs199968487
|
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.1965A>T (p.Ile655=)
|
rs146415287
|
0.00002
|
NM_025137.4(SPG11):c.2145T>C (p.Ala715=)
|
rs761155521
|
0.00002
|
NM_025137.4(SPG11):c.2280C>T (p.Cys760=)
|
rs567932275
|
0.00002
|
NM_025137.4(SPG11):c.2444+13G>C
|
rs1347072799
|
0.00002
|
NM_025137.4(SPG11):c.2621-12T>G
|
rs775433435
|
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.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.483T>C (p.Asn161=)
|
rs772205877
|
0.00002
|
NM_025137.4(SPG11):c.5040G>T (p.Leu1680=)
|
rs748057725
|
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.5724C>T (p.Val1908=)
|
rs369869911
|
0.00002
|
NM_025137.4(SPG11):c.5907C>T (p.Ser1969=)
|
rs759132764
|
0.00002
|
NM_025137.4(SPG11):c.6205+14C>T
|
rs766366279
|
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.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.7092G>A (p.Leu2364=)
|
rs1312904222
|
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.756G>A (p.Glu252=)
|
rs762704140
|
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.1008-20A>G
|
rs767487177
|
0.00001
|
NM_025137.4(SPG11):c.1026A>G (p.Leu342=)
|
rs1008060327
|
0.00001
|
NM_025137.4(SPG11):c.1080T>C (p.Ala360=)
|
rs775781498
|
0.00001
|
NM_025137.4(SPG11):c.1179T>C (p.His393=)
|
rs751415874
|
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.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.153G>A (p.Pro51=)
|
rs2085183451
|
0.00001
|
NM_025137.4(SPG11):c.159T>C (p.Ala53=)
|
rs1172849528
|
0.00001
|
NM_025137.4(SPG11):c.1603-11C>T
|
rs2084149936
|
0.00001
|
NM_025137.4(SPG11):c.1674A>G (p.Pro558=)
|
rs763315402
|
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.177T>A (p.Ala59=)
|
rs750527049
|
0.00001
|
NM_025137.4(SPG11):c.180G>A (p.Ala60=)
|
rs765387108
|
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.2079C>T (p.Ala693=)
|
rs776740393
|
0.00001
|
NM_025137.4(SPG11):c.2205G>A (p.Lys735=)
|
rs747102973
|
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.2487T>G (p.Val829=)
|
rs764475601
|
0.00001
|
NM_025137.4(SPG11):c.2493C>T (p.Asp831=)
|
rs753148847
|
0.00001
|
NM_025137.4(SPG11):c.2541T>C (p.His847=)
|
rs1329473950
|
0.00001
|
NM_025137.4(SPG11):c.257+7G>A
|
rs1595944726
|
0.00001
|
NM_025137.4(SPG11):c.258-19T>C
|
rs891893476
|
0.00001
|
NM_025137.4(SPG11):c.2616A>G (p.Pro872=)
|
rs905128570
|
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.2688T>C (p.Ile896=)
|
rs1243360802
|
0.00001
|
NM_025137.4(SPG11):c.2727T>C (p.Tyr909=)
|
rs759432908
|
0.00001
|
NM_025137.4(SPG11):c.2835-4A>G
|
rs201830528
|
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.3038+20T>C
|
rs371520578
|
0.00001
|
NM_025137.4(SPG11):c.3064T>C (p.Leu1022=)
|
rs1434992344
|
0.00001
|
NM_025137.4(SPG11):c.3195T>C (p.Ile1065=)
|
rs757632864
|
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.3346T>C (p.Leu1116=)
|
rs776626926
|
0.00001
|
NM_025137.4(SPG11):c.3399G>A (p.Gln1133=)
|
rs1051475016
|
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.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.3546C>T (p.Phe1182=)
|
rs780928415
|
0.00001
|
NM_025137.4(SPG11):c.3573T>C (p.Tyr1191=)
|
rs1033114266
|
0.00001
|
NM_025137.4(SPG11):c.3663C>A (p.Ile1221=)
|
rs1388337783
|
0.00001
|
NM_025137.4(SPG11):c.3684G>A (p.Gln1228=)
|
rs759965980
|
0.00001
|
NM_025137.4(SPG11):c.3778T>C (p.Leu1260=)
|
rs776154524
|
0.00001
|
NM_025137.4(SPG11):c.3893-5T>C
|
rs772297517
|
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.4032A>G (p.Ala1344=)
|
rs777961845
|
0.00001
|
NM_025137.4(SPG11):c.4069C>T (p.Leu1357=)
|
rs2083057421
|
0.00001
|
NM_025137.4(SPG11):c.4116G>A (p.Leu1372=)
|
rs763115113
|
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.4435-20T>C
|
rs775474229
|
0.00001
|
NM_025137.4(SPG11):c.4498A>G (p.Thr1500Ala)
|
rs758867131
|
0.00001
|
NM_025137.4(SPG11):c.4539T>C (p.His1513=)
|
rs763700515
|
0.00001
|
NM_025137.4(SPG11):c.454T>C (p.Leu152=)
|
rs762866477
|
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.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.4744-7T>C
|
rs1179242305
|
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.4917G>A (p.Val1639=)
|
rs1452851829
|
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.5082A>G (p.Glu1694=)
|
rs914692956
|
0.00001
|
NM_025137.4(SPG11):c.5094A>G (p.Leu1698=)
|
rs759063821
|
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.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.5388G>A (p.Glu1796=)
|
rs917858944
|
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.5691A>G (p.Val1897=)
|
rs150077116
|
0.00001
|
NM_025137.4(SPG11):c.5703T>C (p.Phe1901=)
|
rs1400427975
|
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.5848C>T (p.Leu1950=)
|
rs758810317
|
0.00001
|
NM_025137.4(SPG11):c.5989C>T (p.Leu1997=)
|
rs1471262430
|
0.00001
|
NM_025137.4(SPG11):c.6006+15G>T
|
rs1313329508
|
0.00001
|
NM_025137.4(SPG11):c.612T>C (p.Ile204=)
|
rs906644527
|
0.00001
|
NM_025137.4(SPG11):c.6156C>T (p.Leu2052=)
|
rs752218927
|
0.00001
|
NM_025137.4(SPG11):c.6205+8A>G
|
rs763990388
|
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.6339T>G (p.Ser2113=)
|
rs764165583
|
0.00001
|
NM_025137.4(SPG11):c.6344-5C>T
|
rs1243652760
|
0.00001
|
NM_025137.4(SPG11):c.6390C>T (p.Cys2130=)
|
rs1391522611
|
0.00001
|
NM_025137.4(SPG11):c.6423C>T (p.Ala2141=)
|
rs952927034
|
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.6477+8G>A
|
rs1271281447
|
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.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.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.6805C>T (p.Leu2269=)
|
rs781036043
|
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.6921T>C (p.Thr2307=)
|
rs1460874304
|
0.00001
|
NM_025137.4(SPG11):c.6939C>T (p.Leu2313=)
|
rs1298022335
|
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.7050T>C (p.Ile2350=)
|
rs758862344
|
0.00001
|
NM_025137.4(SPG11):c.7137A>G (p.Glu2379=)
|
rs1398977843
|
0.00001
|
NM_025137.4(SPG11):c.7151+9T>C
|
rs1301085412
|
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.7258T>A (p.Phe2420Ile)
|
rs779900397
|
0.00001
|
NM_025137.4(SPG11):c.7263T>C (p.Tyr2421=)
|
rs758146508
|
0.00001
|
NM_025137.4(SPG11):c.783A>G (p.Ser261=)
|
rs757513010
|
0.00001
|
NM_025137.4(SPG11):c.828C>A (p.Ser276=)
|
rs780079430
|
0.00001
|
NM_025137.4(SPG11):c.936C>T (p.Gly312=)
|
rs771082349
|
0.00001
|
NM_025137.3(SPG11):c.7151+4_7151+7dup
|
|
|
NM_025137.4(SPG11):c.1005T>C (p.Asp335=)
|
|
|
NM_025137.4(SPG11):c.1007+11T>C
|
|
|
NM_025137.4(SPG11):c.1007+56G>C
|
rs114629245
|
|
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.1008-4C>G
|
|
|
NM_025137.4(SPG11):c.1008-5T>G
|
|
|
NM_025137.4(SPG11):c.1008-9del
|
|
|
NM_025137.4(SPG11):c.1024C>T (p.Leu342=)
|
|
|
NM_025137.4(SPG11):c.1029A>G (p.Ser343=)
|
|
|
NM_025137.4(SPG11):c.102C>T (p.Pro34=)
|
|
|
NM_025137.4(SPG11):c.1033T>C (p.Leu345=)
|
|
|
NM_025137.4(SPG11):c.1050G>A (p.Lys350=)
|
rs2141107304
|
|
NM_025137.4(SPG11):c.105C>T (p.Ala35=)
|
rs1595945253
|
|
NM_025137.4(SPG11):c.1077T>C (p.Cys359=)
|
|
|
NM_025137.4(SPG11):c.1083A>G (p.Pro361=)
|
|
|
NM_025137.4(SPG11):c.1089C>T (p.Phe363=)
|
|
|
NM_025137.4(SPG11):c.1113A>C (p.Ser371=)
|
|
|
NM_025137.4(SPG11):c.111G>A (p.Ala37=)
|
rs2141138705
|
|
NM_025137.4(SPG11):c.1155C>T (p.Ala385=)
|
|
|
NM_025137.4(SPG11):c.117G>A (p.Gly39=)
|
rs1253131194
|
|
NM_025137.4(SPG11):c.1185A>G (p.Gln395=)
|
|
|
NM_025137.4(SPG11):c.1194T>C (p.Val398=)
|
|
|
NM_025137.4(SPG11):c.1195C>T (p.Leu399=)
|
rs990876732
|
|
NM_025137.4(SPG11):c.1227A>G (p.Pro409=)
|
rs150909768
|
|
NM_025137.4(SPG11):c.1233A>G (p.Arg411=)
|
|
|
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.1278G>A (p.Glu426=)
|
rs2084780424
|
|
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.1314G>A (p.Leu438=)
|
|
|
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.1347_1348inv (p.Ile450Val)
|
|
|
NM_025137.4(SPG11):c.1368G>A (p.Glu456=)
|
|
|
NM_025137.4(SPG11):c.1371C>T (p.Thr457=)
|
rs2141106099
|
|
NM_025137.4(SPG11):c.1395T>C (p.Leu465=)
|
rs2141105955
|
|
NM_025137.4(SPG11):c.1422T>C (p.Ser474=)
|
|
|
NM_025137.4(SPG11):c.1431C>T (p.Asp477=)
|
|
|
NM_025137.4(SPG11):c.1440G>T (p.Leu480=)
|
|
|
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+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.1473G>A (p.Leu491=)
|
rs1595923506
|
|
NM_025137.4(SPG11):c.150G>A (p.Gln50=)
|
rs745498485
|
|
NM_025137.4(SPG11):c.1521C>T (p.Ile507=)
|
|
|
NM_025137.4(SPG11):c.1558C>T (p.Leu520Phe)
|
rs557277528
|
|
NM_025137.4(SPG11):c.1572A>G (p.Gly524=)
|
|
|
NM_025137.4(SPG11):c.1578C>T (p.Cys526=)
|
|
|
NM_025137.4(SPG11):c.1590A>C (p.Ile530=)
|
|
|
NM_025137.4(SPG11):c.1596A>C (p.Ala532=)
|
|
|
NM_025137.4(SPG11):c.1599A>G (p.Leu533=)
|
rs2141098634
|
|
NM_025137.4(SPG11):c.1602+19C>G
|
|
|
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.1603-5T>C
|
rs2084149728
|
|
NM_025137.4(SPG11):c.1603-8C>A
|
rs756665513
|
|
NM_025137.4(SPG11):c.1603-8C>T
|
|
|
NM_025137.4(SPG11):c.160C>T (p.Leu54=)
|
|
|
NM_025137.4(SPG11):c.1624C>T (p.Leu542=)
|
|
|
NM_025137.4(SPG11):c.162G>A (p.Leu54=)
|
|
|
NM_025137.4(SPG11):c.1641C>T (p.Phe547=)
|
|
|
NM_025137.4(SPG11):c.1644T>C (p.Phe548=)
|
|
|
NM_025137.4(SPG11):c.1677C>T (p.Ser559=)
|
|
|
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.1707T>C (p.Asp569=)
|
|
|
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.1725A>G (p.Leu575=)
|
rs1306125865
|
|
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+9A>G
|
|
|
NM_025137.4(SPG11):c.1736-11T>C
|
|
|
NM_025137.4(SPG11):c.1736-193A>C
|
rs145544135
|
|
NM_025137.4(SPG11):c.1736-7T>G
|
|
|
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.1803C>T (p.Pro601=)
|
|
|
NM_025137.4(SPG11):c.1806A>G (p.Gln602=)
|
|
|
NM_025137.4(SPG11):c.180G>T (p.Ala60=)
|
|
|
NM_025137.4(SPG11):c.1818T>C (p.Phe606=)
|
|
|
NM_025137.4(SPG11):c.1821A>C (p.Ser607=)
|
|
|
NM_025137.4(SPG11):c.1836T>C (p.Asn612=)
|
rs2083990565
|
|
NM_025137.4(SPG11):c.1842A>G (p.Thr614=)
|
|
|
NM_025137.4(SPG11):c.1854T>C (p.Leu618=)
|
|
|
NM_025137.4(SPG11):c.1857C>T (p.Asn619=)
|
rs2141044869
|
|
NM_025137.4(SPG11):c.186C>T (p.Ser62=)
|
|
|
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+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.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.1908G>A (p.Leu636=)
|
|
|
NM_025137.4(SPG11):c.1938C>T (p.Tyr646=)
|
|
|
NM_025137.4(SPG11):c.1941T>A (p.Ile647=)
|
|
|
NM_025137.4(SPG11):c.1959C>T (p.Phe653=)
|
|
|
NM_025137.4(SPG11):c.1974T>C (p.Pro658=)
|
|
|
NM_025137.4(SPG11):c.1992T>C (p.Ala664=)
|
|
|
NM_025137.4(SPG11):c.2001A>G (p.Glu667=)
|
|
|
NM_025137.4(SPG11):c.2007T>C (p.Asp669=)
|
|
|
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.2055A>G (p.Lys685=)
|
|
|
NM_025137.4(SPG11):c.2061C>T (p.Ser687=)
|
|
|
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+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.2068-7T>A
|
|
|
NM_025137.4(SPG11):c.2068-7T>C
|
|
|
NM_025137.4(SPG11):c.2073T>G (p.Val691=)
|
|
|
NM_025137.4(SPG11):c.2079C>G (p.Ala693=)
|
|
|
NM_025137.4(SPG11):c.2115G>A (p.Gln705=)
|
|
|
NM_025137.4(SPG11):c.2121C>T (p.Phe707=)
|
|
|
NM_025137.4(SPG11):c.2125A>C (p.Arg709=)
|
|
|
NM_025137.4(SPG11):c.2127G>A (p.Arg709=)
|
|
|
NM_025137.4(SPG11):c.213C>T (p.Gly71=)
|
|
|
NM_025137.4(SPG11):c.2157G>A (p.Glu719=)
|
|
|
NM_025137.4(SPG11):c.2196T>C (p.Asn732=)
|
rs2141037849
|
|
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.2223C>T (p.Ala741=)
|
|
|
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+8G>A
|
|
|
NM_025137.4(SPG11):c.2245-13A>T
|
|
|
NM_025137.4(SPG11):c.2245-13_2245-12del
|
|
|
NM_025137.4(SPG11):c.2247G>A (p.Gly749=)
|
|
|
NM_025137.4(SPG11):c.2253T>C (p.Asp751=)
|
|
|
NM_025137.4(SPG11):c.225G>A (p.Gly75=)
|
|
|
NM_025137.4(SPG11):c.225G>C (p.Gly75=)
|
|
|
NM_025137.4(SPG11):c.2268G>A (p.Leu756=)
|
rs2083789720
|
|
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.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.2343T>C (p.Tyr781=)
|
|
|
NM_025137.4(SPG11):c.2349T>C (p.Ser783=)
|
|
|
NM_025137.4(SPG11):c.2370A>C (p.Ile790=)
|
|
|
NM_025137.4(SPG11):c.2373C>T (p.Asp791=)
|
rs1294501977
|
|
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.2421T>C (p.Asn807=)
|
rs2083774098
|
|
NM_025137.4(SPG11):c.2436A>C (p.Ser812=)
|
rs2141028889
|
|
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+7T>C
|
|
|
NM_025137.4(SPG11):c.2444+8C>T
|
|
|
NM_025137.4(SPG11):c.2444+9A>G
|
rs2083772568
|
|
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.2445-32dup
|
rs374899647
|
|
NM_025137.4(SPG11):c.2445-7T>C
|
|
|
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.2478C>T (p.His826=)
|
|
|
NM_025137.4(SPG11):c.2490G>A (p.Leu830=)
|
rs2141028079
|
|
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.2535G>A (p.Gln845=)
|
rs2141027925
|
|
NM_025137.4(SPG11):c.2565G>A (p.Leu855=)
|
|
|
NM_025137.4(SPG11):c.2565G>C (p.Leu855=)
|
|
|
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+8C>A
|
rs769518000
|
|
NM_025137.4(SPG11):c.257+8C>T
|
|
|
NM_025137.4(SPG11):c.257+9T>G
|
|
|
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.258-6del
|
rs373234269
|
|
NM_025137.4(SPG11):c.258-8T>G
|
|
|
NM_025137.4(SPG11):c.2583A>C (p.Thr861=)
|
rs2141027797
|
|
NM_025137.4(SPG11):c.2592C>T (p.Ser864=)
|
|
|
NM_025137.4(SPG11):c.2601C>A (p.Leu867=)
|
|
|
NM_025137.4(SPG11):c.2621-13T>C
|
rs1595889099
|
|
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.2621-6A>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.2626A>G (p.Lys876Glu)
|
|
|
NM_025137.4(SPG11):c.2637C>T (p.Ser879=)
|
|
|
NM_025137.4(SPG11):c.2640T>C (p.Pro880=)
|
|
|
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.2670C>G (p.Arg890=)
|
|
|
NM_025137.4(SPG11):c.2670C>T (p.Arg890=)
|
|
|
NM_025137.4(SPG11):c.2694A>G (p.Leu898=)
|
|
|
NM_025137.4(SPG11):c.2703A>G (p.Gly901=)
|
|
|
NM_025137.4(SPG11):c.2718G>A (p.Gln906=)
|
|
|
NM_025137.4(SPG11):c.2745C>T (p.Asn915=)
|
rs1595888890
|
|
NM_025137.4(SPG11):c.2781G>A (p.Gln927=)
|
rs373088911
|
|
NM_025137.4(SPG11):c.27T>C (p.Ser9=)
|
|
|
NM_025137.4(SPG11):c.2808G>A (p.Arg936=)
|
|
|
NM_025137.4(SPG11):c.2820A>G (p.Leu940=)
|
|
|
NM_025137.4(SPG11):c.2829G>A (p.Leu943=)
|
rs1555455226
|
|
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+20A>C
|
|
|
NM_025137.4(SPG11):c.2844T>A (p.Val948=)
|
rs2141015218
|
|
NM_025137.4(SPG11):c.2847T>C (p.Phe949=)
|
|
|
NM_025137.4(SPG11):c.2856T>C (p.Ser952=)
|
|
|
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.2892G>A (p.Leu964=)
|
|
|
NM_025137.4(SPG11):c.2894G>A (p.Ser965Asn)
|
|
|
NM_025137.4(SPG11):c.2901T>C (p.Ile967=)
|
|
|
NM_025137.4(SPG11):c.2910A>C (p.Val970=)
|
|
|
NM_025137.4(SPG11):c.2916G>A (p.Gln972=)
|
|
|
NM_025137.4(SPG11):c.2922C>T (p.Thr974=)
|
|
|
NM_025137.4(SPG11):c.2925C>T (p.Leu975=)
|
|
|
NM_025137.4(SPG11):c.2928T>A (p.Pro976=)
|
rs2141014954
|
|
NM_025137.4(SPG11):c.2946C>T (p.Thr982=)
|
|
|
NM_025137.4(SPG11):c.297T>C (p.Thr99=)
|
|
|
NM_025137.4(SPG11):c.2989T>C (p.Leu997=)
|
|
|
NM_025137.4(SPG11):c.2994G>A (p.Glu998=)
|
|
|
NM_025137.4(SPG11):c.3021C>G (p.Val1007=)
|
rs1595883840
|
|
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.3039-13G>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.3084T>C (p.His1028=)
|
|
|
NM_025137.4(SPG11):c.30T>C (p.Ala10=)
|
rs765190254
|
|
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.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.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.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.3168T>C (p.Ala1056=)
|
rs2083444214
|
|
NM_025137.4(SPG11):c.3198C>T (p.Pro1066=)
|
rs1595878904
|
|
NM_025137.4(SPG11):c.3207G>A (p.Gln1069=)
|
|
|
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.324T>A (p.Gly108=)
|
rs1555383447
|
|
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.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+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.3292-4T>G
|
|
|
NM_025137.4(SPG11):c.3292-5C>T
|
rs2140999966
|
|
NM_025137.4(SPG11):c.3315A>G (p.Glu1105=)
|
|
|
NM_025137.4(SPG11):c.3348G>A (p.Leu1116=)
|
|
|
NM_025137.4(SPG11):c.3357A>G (p.Ala1119=)
|
|
|
NM_025137.4(SPG11):c.3366T>C (p.Pro1122=)
|
rs774332666
|
|
NM_025137.4(SPG11):c.3369C>T (p.Tyr1123=)
|
|
|
NM_025137.4(SPG11):c.337C>T (p.Leu113=)
|
rs878855128
|
|
NM_025137.4(SPG11):c.3390C>G (p.Leu1130=)
|
|
|
NM_025137.4(SPG11):c.3393C>T (p.Phe1131=)
|
|
|
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.3417C>T (p.Val1139=)
|
|
|
NM_025137.4(SPG11):c.3423A>G (p.Pro1141=)
|
|
|
NM_025137.4(SPG11):c.3438C>T (p.Ile1146=)
|
rs1484117125
|
|
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+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.3471T>C (p.Asp1157=)
|
|
|
NM_025137.4(SPG11):c.3474T>G (p.Pro1158=)
|
|
|
NM_025137.4(SPG11):c.3480A>G (p.Arg1160=)
|
|
|
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.3521-4C>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.3525A>C (p.Ala1175=)
|
|
|
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.3594T>C (p.Asn1198=)
|
|
|
NM_025137.4(SPG11):c.3595T>G (p.Phe1199Val)
|
rs774716138
|
|
NM_025137.4(SPG11):c.3624A>G (p.Pro1208=)
|
|
|
NM_025137.4(SPG11):c.3624A>T (p.Pro1208=)
|
|
|
NM_025137.4(SPG11):c.3633A>G (p.Ala1211=)
|
rs1464516168
|
|
NM_025137.4(SPG11):c.3642T>A (p.Thr1214=)
|
|
|
NM_025137.4(SPG11):c.3651C>A (p.Val1217=)
|
|
|
NM_025137.4(SPG11):c.3657A>G (p.Glu1219=)
|
|
|
NM_025137.4(SPG11):c.3672G>A (p.Lys1224=)
|
rs752901786
|
|
NM_025137.4(SPG11):c.3678C>G (p.Pro1226=)
|
rs2140982045
|
|
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.3687-13C>G
|
|
|
NM_025137.4(SPG11):c.3687-14C>A
|
|
|
NM_025137.4(SPG11):c.3687-14C>T
|
|
|
NM_025137.4(SPG11):c.3687-7T>G
|
rs1264219476
|
|
NM_025137.4(SPG11):c.3687-9C>G
|
|
|
NM_025137.4(SPG11):c.3696A>G (p.Gln1232=)
|
|
|
NM_025137.4(SPG11):c.3702C>A (p.Gly1234=)
|
|
|
NM_025137.4(SPG11):c.3729C>T (p.Ser1243=)
|
|
|
NM_025137.4(SPG11):c.3759A>G (p.Ala1253=)
|
|
|
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.3822G>C (p.Val1274=)
|
|
|
NM_025137.4(SPG11):c.3828T>C (p.Asn1276=)
|
|
|
NM_025137.4(SPG11):c.3846G>A (p.Lys1282=)
|
|
|
NM_025137.4(SPG11):c.3861T>C (p.Asp1287=)
|
|
|
NM_025137.4(SPG11):c.3873C>T (p.Ser1291=)
|
|
|
NM_025137.4(SPG11):c.3892+10C>A
|
rs907855830
|
|
NM_025137.4(SPG11):c.3892+12T>G
|
|
|
NM_025137.4(SPG11):c.3892+16T>C
|
|
|
NM_025137.4(SPG11):c.3892+20G>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.3893-20_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>C
|
|
|
NM_025137.4(SPG11):c.3901C>T (p.Leu1301=)
|
|
|
NM_025137.4(SPG11):c.3903A>G (p.Leu1301=)
|
|
|
NM_025137.4(SPG11):c.3906T>C (p.Ser1302=)
|
|
|
NM_025137.4(SPG11):c.390G>A (p.Leu130=)
|
|
|
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.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.396C>T (p.Ser132=)
|
|
|
NM_025137.4(SPG11):c.3978C>T (p.Ser1326=)
|
|
|
NM_025137.4(SPG11):c.3987A>G (p.Gln1329=)
|
rs2140976916
|
|
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.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.4008C>G (p.Ser1336=)
|
|
|
NM_025137.4(SPG11):c.4014A>G (p.Glu1338=)
|
|
|
NM_025137.4(SPG11):c.4035A>G (p.Leu1345=)
|
rs2140973839
|
|
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.4077A>T (p.Ile1359=)
|
rs541172391
|
|
NM_025137.4(SPG11):c.4083C>T (p.Tyr1361=)
|
|
|
NM_025137.4(SPG11):c.4119G>A (p.Gln1373=)
|
|
|
NM_025137.4(SPG11):c.4143C>T (p.His1381=)
|
|
|
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.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.4162-11A>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.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.4335G>A (p.Leu1445=)
|
|
|
NM_025137.4(SPG11):c.4338C>T (p.Leu1446=)
|
rs1016759628
|
|
NM_025137.4(SPG11):c.4341A>G (p.Gln1447=)
|
rs369058599
|
|
NM_025137.4(SPG11):c.4353G>A (p.Glu1451=)
|
|
|
NM_025137.4(SPG11):c.4356A>C (p.Pro1452=)
|
|
|
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.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.4401C>T (p.Ala1467=)
|
rs1266766497
|
|
NM_025137.4(SPG11):c.4404T>G (p.Pro1468=)
|
rs2140971681
|
|
NM_025137.4(SPG11):c.440T>C (p.Ile147Thr)
|
rs547491883
|
|
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+20C>T
|
|
|
NM_025137.4(SPG11):c.442+9C>A
|
rs2141129671
|
|
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.443-20A>T
|
rs2141126904
|
|
NM_025137.4(SPG11):c.443-5T>C
|
|
|
NM_025137.4(SPG11):c.443-6T>C
|
rs754758152
|
|
NM_025137.4(SPG11):c.4431C>T (p.Leu1477=)
|
|
|
NM_025137.4(SPG11):c.4434+10A>G
|
|
|
NM_025137.4(SPG11):c.4434+15A>G
|
|
|
NM_025137.4(SPG11):c.4434+6_4434+7insGT
|
rs1374893382
|
|
NM_025137.4(SPG11):c.4434+8T>A
|
|
|
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.4440C>T (p.Ala1480=)
|
|
|
NM_025137.4(SPG11):c.4473C>T (p.Ile1491=)
|
rs2083009929
|
|
NM_025137.4(SPG11):c.4476T>C (p.Thr1492=)
|
|
|
NM_025137.4(SPG11):c.4494T>C (p.Val1498=)
|
|
|
NM_025137.4(SPG11):c.4500T>C (p.Thr1500=)
|
|
|
NM_025137.4(SPG11):c.4548C>T (p.Asn1516=)
|
|
|
NM_025137.4(SPG11):c.4566C>T (p.Val1522=)
|
|
|
NM_025137.4(SPG11):c.4593A>G (p.Gln1531=)
|
|
|
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.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.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.4672C>T (p.Leu1558=)
|
rs2140963298
|
|
NM_025137.4(SPG11):c.4717C>T (p.Leu1573=)
|
rs560868702
|
|
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+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.4758C>A (p.Ala1586=)
|
|
|
NM_025137.4(SPG11):c.4761A>G (p.Thr1587=)
|
|
|
NM_025137.4(SPG11):c.4824T>C (p.Leu1608=)
|
|
|
NM_025137.4(SPG11):c.4836G>A (p.Gln1612=)
|
|
|
NM_025137.4(SPG11):c.4851T>C (p.Tyr1617=)
|
|
|
NM_025137.4(SPG11):c.4875C>G (p.Leu1625=)
|
rs751776468
|
|
NM_025137.4(SPG11):c.4896C>G (p.Leu1632=)
|
rs938056721
|
|
NM_025137.4(SPG11):c.4906+11C>G
|
|
|
NM_025137.4(SPG11):c.4906+17A>G
|
|
|
NM_025137.4(SPG11):c.4906+4_4906+6dup
|
|
|
NM_025137.4(SPG11):c.4907-193C>T
|
rs117309433
|
|
NM_025137.4(SPG11):c.4907-5C>T
|
rs531032784
|
|
NM_025137.4(SPG11):c.4911A>G (p.Pro1637=)
|
|
|
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.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.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.5031G>A (p.Leu1677=)
|
|
|
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.5073G>A (p.Arg1691=)
|
rs2082747265
|
|
NM_025137.4(SPG11):c.5076A>T (p.Val1692=)
|
|
|
NM_025137.4(SPG11):c.5091G>A (p.Glu1697=)
|
|
|
NM_025137.4(SPG11):c.5109G>A (p.Leu1703=)
|
|
|
NM_025137.4(SPG11):c.5115T>C (p.Ile1705=)
|
|
|
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+17dup
|
rs34800368
|
|
NM_025137.4(SPG11):c.5121+15T>C
|
rs1567139953
|
|
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.5122-5C>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.5167C>T (p.Leu1723=)
|
|
|
NM_025137.4(SPG11):c.5172A>G (p.Lys1724=)
|
rs748433681
|
|
NM_025137.4(SPG11):c.5211T>C (p.Asn1737=)
|
rs1024346199
|
|
NM_025137.4(SPG11):c.5301C>T (p.Ser1767=)
|
rs2082715269
|
|
NM_025137.4(SPG11):c.5316C>T (p.Arg1772=)
|
|
|
NM_025137.4(SPG11):c.5322G>A (p.Leu1774=)
|
|
|
NM_025137.4(SPG11):c.5328C>T (p.Leu1776=)
|
|
|
NM_025137.4(SPG11):c.5334G>A (p.Leu1778=)
|
rs369354037
|
|
NM_025137.4(SPG11):c.5337A>G (p.Ala1779=)
|
|
|
NM_025137.4(SPG11):c.5340G>A (p.Gly1780=)
|
|
|
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.5391G>A (p.Leu1797=)
|
|
|
NM_025137.4(SPG11):c.5403C>A (p.Ile1801=)
|
|
|
NM_025137.4(SPG11):c.5409G>A (p.Leu1803=)
|
|
|
NM_025137.4(SPG11):c.541A>C (p.Arg181=)
|
|
|
NM_025137.4(SPG11):c.5433T>C (p.Leu1811=)
|
|
|
NM_025137.4(SPG11):c.5454A>G (p.Thr1818=)
|
rs2140946988
|
|
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.5529C>T (p.Phe1843=)
|
|
|
NM_025137.4(SPG11):c.5536T>C (p.Leu1846=)
|
|
|
NM_025137.4(SPG11):c.5553A>G (p.Thr1851=)
|
|
|
NM_025137.4(SPG11):c.5553A>T (p.Thr1851=)
|
|
|
NM_025137.4(SPG11):c.5565A>G (p.Leu1855=)
|
|
|
NM_025137.4(SPG11):c.5583A>C (p.Pro1861=)
|
|
|
NM_025137.4(SPG11):c.5595A>C (p.Thr1865=)
|
|
|
NM_025137.4(SPG11):c.5604T>C (p.Asn1868=)
|
|
|
NM_025137.4(SPG11):c.5628G>A (p.Glu1876=)
|
rs758313148
|
|
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.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.5694C>T (p.Cys1898=)
|
rs1217386610
|
|
NM_025137.4(SPG11):c.5727C>T (p.Ala1909=)
|
|
|
NM_025137.4(SPG11):c.5743A>C (p.Arg1915=)
|
|
|
NM_025137.4(SPG11):c.5749C>T (p.Leu1917=)
|
|
|
NM_025137.4(SPG11):c.5760G>A (p.Gly1920=)
|
|
|
NM_025137.4(SPG11):c.5769T>C (p.Ser1923=)
|
rs1313485862
|
|
NM_025137.4(SPG11):c.576A>C (p.Thr192=)
|
rs2141126286
|
|
NM_025137.4(SPG11):c.5784C>T (p.His1928=)
|
|
|
NM_025137.4(SPG11):c.57C>G (p.Thr19=)
|
rs1380799323
|
|
NM_025137.4(SPG11):c.5805A>G (p.Leu1935=)
|
|
|
NM_025137.4(SPG11):c.5820G>A (p.Leu1940=)
|
|
|
NM_025137.4(SPG11):c.5826G>A (p.Glu1942=)
|
rs2140946251
|
|
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.5862C>T (p.His1954=)
|
rs2140946181
|
|
NM_025137.4(SPG11):c.5866+11G>A
|
|
|
NM_025137.4(SPG11):c.5866+16C>G
|
|
|
NM_025137.4(SPG11):c.5867-13T>C
|
|
|
NM_025137.4(SPG11):c.5867-13T>G
|
|
|
NM_025137.4(SPG11):c.5867-6T>G
|
|
|
NM_025137.4(SPG11):c.5867-8G>C
|
|
|
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.5901G>T (p.Val1967=)
|
|
|
NM_025137.4(SPG11):c.5913T>C (p.Asn1971=)
|
|
|
NM_025137.4(SPG11):c.591A>G (p.Ala197=)
|
|
|
NM_025137.4(SPG11):c.5949A>G (p.Lys1983=)
|
|
|
NM_025137.4(SPG11):c.5955C>A (p.Leu1985=)
|
|
|
NM_025137.4(SPG11):c.597A>G (p.Ala199=)
|
|
|
NM_025137.4(SPG11):c.5982C>T (p.Val1994=)
|
|
|
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+17G>A
|
|
|
NM_025137.4(SPG11):c.6006+19G>A
|
|
|
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.6007-6T>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.6018T>C (p.Cys2006=)
|
|
|
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.6069C>T (p.Ile2023=)
|
rs753141662
|
|
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.6090C>T (p.Asp2030=)
|
|
|
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.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.6150T>C (p.Ala2050=)
|
rs2140928897
|
|
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.618G>A (p.Thr206=)
|
|
|
NM_025137.4(SPG11):c.6198G>A (p.Gln2066=)
|
|
|
NM_025137.4(SPG11):c.6205+10C>A
|
rs548551204
|
|
NM_025137.4(SPG11):c.6205+13C>T
|
|
|
NM_025137.4(SPG11):c.6205+14C>G
|
|
|
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+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.6206-12C>G
|
|
|
NM_025137.4(SPG11):c.6206-15C>T
|
|
|
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.6225C>T (p.Asn2075=)
|
|
|
NM_025137.4(SPG11):c.6231A>C (p.Thr2077=)
|
rs2082450015
|
|
NM_025137.4(SPG11):c.6246A>G (p.Thr2082=)
|
|
|
NM_025137.4(SPG11):c.6264T>G (p.Thr2088=)
|
|
|
NM_025137.4(SPG11):c.6279C>G (p.Arg2093=)
|
|
|
NM_025137.4(SPG11):c.6283T>C (p.Leu2095=)
|
rs2082448894
|
|
NM_025137.4(SPG11):c.6306T>C (p.Asp2102=)
|
|
|
NM_025137.4(SPG11):c.6318C>T (p.Ser2106=)
|
|
|
NM_025137.4(SPG11):c.6327T>C (p.His2109=)
|
rs754787719
|
|
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+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.6344-24_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.6354C>A (p.Leu2118=)
|
|
|
NM_025137.4(SPG11):c.6354C>T (p.Leu2118=)
|
|
|
NM_025137.4(SPG11):c.6366C>G (p.Ala2122=)
|
|
|
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.6384G>C (p.Leu2128=)
|
|
|
NM_025137.4(SPG11):c.6387G>C (p.Thr2129=)
|
rs150121550
|
|
NM_025137.4(SPG11):c.6438A>G (p.Thr2146=)
|
|
|
NM_025137.4(SPG11):c.6462G>A (p.Glu2154=)
|
|
|
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.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.6478-7T>G
|
|
|
NM_025137.4(SPG11):c.6478-9A>G
|
|
|
NM_025137.4(SPG11):c.6480A>T (p.Val2160=)
|
|
|
NM_025137.4(SPG11):c.6483G>A (p.Arg2161=)
|
|
|
NM_025137.4(SPG11):c.6483G>C (p.Arg2161=)
|
|
|
NM_025137.4(SPG11):c.6498T>C (p.Ile2166=)
|
|
|
NM_025137.4(SPG11):c.6507C>T (p.Tyr2169=)
|
rs1476614745
|
|
NM_025137.4(SPG11):c.6510C>T (p.Asn2170=)
|
|
|
NM_025137.4(SPG11):c.6549C>T (p.His2183=)
|
|
|
NM_025137.4(SPG11):c.6552C>T (p.Tyr2184=)
|
|
|
NM_025137.4(SPG11):c.6558A>G (p.Glu2186=)
|
|
|
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+9A>C
|
|
|
NM_025137.4(SPG11):c.6586-16C>T
|
|
|
NM_025137.4(SPG11):c.6586-16del
|
|
|
NM_025137.4(SPG11):c.6586-20T>C
|
|
|
NM_025137.4(SPG11):c.6586-7T>C
|
rs1057524222
|
|
NM_025137.4(SPG11):c.6594C>G (p.Thr2198=)
|
|
|
NM_025137.4(SPG11):c.6607C>T (p.Leu2203=)
|
|
|
NM_025137.4(SPG11):c.6615C>T (p.Asp2205=)
|
|
|
NM_025137.4(SPG11):c.6621C>A (p.Ile2207=)
|
|
|
NM_025137.4(SPG11):c.6639A>G (p.Gly2213=)
|
|
|
NM_025137.4(SPG11):c.6657T>C (p.Asn2219=)
|
rs2140917127
|
|
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.668-10T>C
|
|
|
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.668-6T>G
|
|
|
NM_025137.4(SPG11):c.668-7_668-4del
|
rs1272830874
|
|
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.669C>T (p.Tyr223=)
|
|
|
NM_025137.4(SPG11):c.6705C>T (p.His2235=)
|
|
|
NM_025137.4(SPG11):c.6735G>A (p.Leu2245=)
|
rs1555446716
|
|
NM_025137.4(SPG11):c.6750C>G (p.Pro2250=)
|
|
|
NM_025137.4(SPG11):c.6754+57_6754+58dup
|
rs397853802
|
|
NM_025137.4(SPG11):c.6754+75G>T
|
rs1370132680
|
|
NM_025137.4(SPG11):c.6755-13_6755-12del
|
|
|
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.6755-6C>G
|
rs2140914474
|
|
NM_025137.4(SPG11):c.6755-7C>T
|
rs1459468329
|
|
NM_025137.4(SPG11):c.6755-8C>T
|
|
|
NM_025137.4(SPG11):c.6768G>A (p.Lys2256=)
|
|
|
NM_025137.4(SPG11):c.6774G>A (p.Gly2258=)
|
|
|
NM_025137.4(SPG11):c.6774G>C (p.Gly2258=)
|
|
|
NM_025137.4(SPG11):c.6780G>A (p.Gln2260=)
|
rs770643416
|
|
NM_025137.4(SPG11):c.6783G>C (p.Leu2261=)
|
|
|
NM_025137.4(SPG11):c.6789A>G (p.Gln2263=)
|
|
|
NM_025137.4(SPG11):c.6790C>T (p.Leu2264=)
|
|
|
NM_025137.4(SPG11):c.6798G>A (p.Leu2266=)
|
rs1414442001
|
|
NM_025137.4(SPG11):c.6807G>T (p.Leu2269=)
|
|
|
NM_025137.4(SPG11):c.6813G>C (p.Leu2271=)
|
|
|
NM_025137.4(SPG11):c.6837T>C (p.Tyr2279=)
|
|
|
NM_025137.4(SPG11):c.6840C>G (p.Ala2280=)
|
rs760995829
|
|
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.6844-5del
|
|
|
NM_025137.4(SPG11):c.6844-9G>T
|
|
|
NM_025137.4(SPG11):c.6849C>T (p.Ser2283=)
|
rs566330854
|
|
NM_025137.4(SPG11):c.6861G>A (p.Gln2287=)
|
|
|
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.6889T>C (p.Leu2297=)
|
|
|
NM_025137.4(SPG11):c.6891G>A (p.Leu2297=)
|
rs2140913726
|
|
NM_025137.4(SPG11):c.6906T>A (p.Ile2302=)
|
|
|
NM_025137.4(SPG11):c.6912T>C (p.Phe2304=)
|
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.6930C>T (p.Asn2310=)
|
|
|
NM_025137.4(SPG11):c.6933A>C (p.Thr2311=)
|
|
|
NM_025137.4(SPG11):c.693A>G (p.Thr231=)
|
|
|
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.6976C>T (p.Leu2326=)
|
rs1437826237
|
|
NM_025137.4(SPG11):c.6981C>T (p.Ala2327=)
|
|
|
NM_025137.4(SPG11):c.6984A>G (p.Leu2328=)
|
rs1314352745
|
|
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+8A>G
|
rs2140913450
|
|
NM_025137.4(SPG11):c.69G>T (p.Gly23=)
|
rs771750618
|
|
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.7000-8C>G
|
rs886051177
|
|
NM_025137.4(SPG11):c.7000-8C>T
|
rs886051177
|
|
NM_025137.4(SPG11):c.7000-9C>T
|
|
|
NM_025137.4(SPG11):c.7000-9_7000-7del
|
rs2140911633
|
|
NM_025137.4(SPG11):c.7002T>C (p.Ala2334=)
|
rs1555446158
|
|
NM_025137.4(SPG11):c.7014T>C (p.Ala2338=)
|
rs1366630590
|
|
NM_025137.4(SPG11):c.7017G>A (p.Glu2339=)
|
|
|
NM_025137.4(SPG11):c.7038T>C (p.Asp2346=)
|
|
|
NM_025137.4(SPG11):c.7051T>C (p.Leu2351=)
|
|
|
NM_025137.4(SPG11):c.7068T>C (p.Ile2356=)
|
|
|
NM_025137.4(SPG11):c.7071T>C (p.Leu2357=)
|
|
|
NM_025137.4(SPG11):c.7098A>G (p.Glu2366=)
|
|
|
NM_025137.4(SPG11):c.70C>A (p.Arg24=)
|
|
|
NM_025137.4(SPG11):c.7111A>C (p.Arg2371=)
|
|
|
NM_025137.4(SPG11):c.7116A>G (p.Leu2372=)
|
rs1595815286
|
|
NM_025137.4(SPG11):c.7119A>G (p.Leu2373=)
|
|
|
NM_025137.4(SPG11):c.7146C>A (p.Ser2382=)
|
|
|
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+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.7152-6A>G
|
rs2082233766
|
|
NM_025137.4(SPG11):c.7158ACA[1] (p.Gln2387del)
|
rs376599651
|
|
NM_025137.4(SPG11):c.7168C>T (p.Pro2390Ser)
|
|
|
NM_025137.4(SPG11):c.7203A>G (p.Leu2401=)
|
rs886051176
|
|
NM_025137.4(SPG11):c.7221T>C (p.Asp2407=)
|
|
|
NM_025137.4(SPG11):c.7228C>T (p.Leu2410=)
|
|
|
NM_025137.4(SPG11):c.7240T>C (p.Leu2414=)
|
|
|
NM_025137.4(SPG11):c.7248C>T (p.Tyr2416=)
|
rs763259072
|
|
NM_025137.4(SPG11):c.7254C>T (p.His2418=)
|
rs2082229551
|
|
NM_025137.4(SPG11):c.7266A>G (p.Glu2422=)
|
rs1229173974
|
|
NM_025137.4(SPG11):c.7281T>G (p.Leu2427=)
|
|
|
NM_025137.4(SPG11):c.72G>C (p.Arg24=)
|
|
|
NM_025137.4(SPG11):c.72G>T (p.Arg24=)
|
|
|
NM_025137.4(SPG11):c.7302T>G (p.Gly2434=)
|
|
|
NM_025137.4(SPG11):c.7311A>G (p.Leu2437=)
|
|
|
NM_025137.4(SPG11):c.75T>C (p.Val25=)
|
rs1566838661
|
|
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.801C>T (p.Asp267=)
|
rs1555382889
|
|
NM_025137.4(SPG11):c.813A>G (p.Ala271=)
|
|
|
NM_025137.4(SPG11):c.81G>A (p.Pro27=)
|
|
|
NM_025137.4(SPG11):c.81G>T (p.Pro27=)
|
|
|
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.846T>A (p.Ala282=)
|
|
|
NM_025137.4(SPG11):c.859T>C (p.Leu287=)
|
|
|
NM_025137.4(SPG11):c.85C>T (p.Leu29=)
|
|
|
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.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.87G>A (p.Leu29=)
|
|
|
NM_025137.4(SPG11):c.888A>G (p.Leu296=)
|
rs2084804985
|
|
NM_025137.4(SPG11):c.891G>T (p.Leu297=)
|
|
|
NM_025137.4(SPG11):c.894T>C (p.Cys298=)
|
|
|
NM_025137.4(SPG11):c.898A>C (p.Arg300=)
|
|
|
NM_025137.4(SPG11):c.903A>C (p.Ile301=)
|
rs2141108395
|
|
NM_025137.4(SPG11):c.90G>A (p.Leu30=)
|
|
|
NM_025137.4(SPG11):c.918T>A (p.Pro306=)
|
rs147614121
|
|
NM_025137.4(SPG11):c.918T>C (p.Pro306=)
|
|
|
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.966C>T (p.Ala322=)
|
|
|
NM_025137.4(SPG11):c.96A>G (p.Pro32=)
|
|
|
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.987G>A (p.Lys329=)
|
|
|
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
|
|