ClinVar Miner

List of variants in gene SPG11 studied for central nervous system disorder

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

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