ClinVar Miner

List of variants in gene SPG11 reported as likely benign

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 1365
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HGVS dbSNP gnomAD frequency
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

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