ClinVar Miner

List of variants in gene SPG11 reported as uncertain significance by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 1065
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HGVS dbSNP gnomAD frequency
NM_025137.4(SPG11):c.5121G>T (p.Glu1707Asp) rs145643238 0.00103
NM_025137.4(SPG11):c.1126A>G (p.Asn376Asp) rs199765540 0.00041
NM_025137.4(SPG11):c.6625C>T (p.Arg2209Cys) rs374057859 0.00027
NM_025137.4(SPG11):c.395G>A (p.Ser132Asn) rs145132275 0.00026
NM_025137.4(SPG11):c.3988C>G (p.Gln1330Glu) rs375363608 0.00025
NM_025137.4(SPG11):c.28G>A (p.Ala10Thr) rs372658867 0.00021
NM_025137.4(SPG11):c.2897G>A (p.Arg966His) rs200281262 0.00019
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.2318T>G (p.Val773Gly) rs182080501 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.256C>G (p.His86Asp) rs773123413 0.00012
NM_025137.4(SPG11):c.6307A>G (p.Lys2103Glu) rs1199605323 0.00012
NM_025137.4(SPG11):c.328A>G (p.Asn110Asp) rs139498464 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.6932_6933insGTT (p.Thr2311_Met2312insLeu) rs747133152 0.00010
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.6950G>A (p.Gly2317Asp) rs79186522 0.00009
NM_025137.4(SPG11):c.7132T>C (p.Phe2378Leu) rs150571352 0.00009
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.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.5770A>G (p.Met1924Val) rs949342628 0.00007
NM_025137.4(SPG11):c.841G>T (p.Val281Phe) rs754144151 0.00007
NM_025137.4(SPG11):c.1939A>G (p.Ile647Val) rs375256495 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.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.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.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.604A>G (p.Met202Val) rs201875705 0.00006
NM_025137.4(SPG11):c.6424G>A (p.Ala2142Thr) rs141035224 0.00006
NM_025137.4(SPG11):c.779C>T (p.Thr260Ile) rs750687972 0.00006
NM_025137.4(SPG11):c.937G>A (p.Val313Ile) rs533492925 0.00006
NM_025137.4(SPG11):c.1933A>G (p.Ser645Gly) rs768519061 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.935G>A (p.Gly312Asp) rs774273136 0.00005
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.1437G>T (p.Gln479His) rs377499551 0.00004
NM_025137.4(SPG11):c.2066A>G (p.Glu689Gly) rs748241805 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.3514A>G (p.Ile1172Val) rs151299495 0.00004
NM_025137.4(SPG11):c.3584A>G (p.Glu1195Gly) rs775875753 0.00004
NM_025137.4(SPG11):c.3848G>A (p.Cys1283Tyr) rs745718551 0.00004
NM_025137.4(SPG11):c.445A>G (p.Ile149Val) rs1482526173 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.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.1030T>C (p.Ser344Pro) rs1235556400 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.1619G>A (p.Arg540His) rs750200448 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.2146C>A (p.Gln716Lys) rs312262737 0.00003
NM_025137.4(SPG11):c.226G>C (p.Gly76Arg) rs944158756 0.00003
NM_025137.4(SPG11):c.2739G>C (p.Gln913His) rs1209247230 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.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.3946C>T (p.Leu1316Phe) rs764652074 0.00003
NM_025137.4(SPG11):c.4070T>C (p.Leu1357Pro) rs367550468 0.00003
NM_025137.4(SPG11):c.4972C>T (p.His1658Tyr) rs775877332 0.00003
NM_025137.4(SPG11):c.4997T>C (p.Ile1666Thr) rs1008817337 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.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.5863A>G (p.Ser1955Gly) rs1479657715 0.00003
NM_025137.4(SPG11):c.6028G>T (p.Asp2010Tyr) rs1060501171 0.00003
NM_025137.4(SPG11):c.6091C>G (p.Arg2031Gly) rs147713329 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.6481C>T (p.Arg2161Trp) rs773954273 0.00003
NM_025137.4(SPG11):c.6585G>A (p.Pro2195=) rs1206211976 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.89T>G (p.Leu30Trp) rs750684185 0.00003
NM_025137.4(SPG11):c.1178A>G (p.His393Arg) rs144038708 0.00002
NM_025137.4(SPG11):c.1214A>C (p.Lys405Thr) rs756326438 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.2228A>G (p.Glu743Gly) rs199617257 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.2561C>T (p.Ala854Val) rs758923470 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.3394C>T (p.Pro1132Ser) rs891639488 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.4940A>G (p.Gln1647Arg) rs1326184542 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.5635A>C (p.Asn1879His) rs759595222 0.00002
NM_025137.4(SPG11):c.5696G>A (p.Arg1899Gln) rs768303307 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.6013G>A (p.Gly2005Ser) rs776764189 0.00002
NM_025137.4(SPG11):c.617C>T (p.Thr206Met) rs763340583 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.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.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.7177A>T (p.Met2393Leu) rs888840813 0.00002
NM_025137.4(SPG11):c.737G>A (p.Cys246Tyr) rs376828731 0.00002
NM_025137.4(SPG11):c.820G>A (p.Val274Ile) rs543316224 0.00002
NM_025137.4(SPG11):c.968A>G (p.Tyr323Cys) rs190718076 0.00002
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.1103A>G (p.His368Arg) rs151226459 0.00001
NM_025137.4(SPG11):c.114G>A (p.Met38Ile) rs886051185 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.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.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.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.15A>T (p.Glu5Asp) rs1444959753 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.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.1777G>A (p.Ala593Thr) rs971713077 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.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.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.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.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.2317G>A (p.Val773Ile) rs766696581 0.00001
NM_025137.4(SPG11):c.2321A>C (p.Glu774Ala) rs566318835 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.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.2571G>T (p.Trp857Cys) rs200542854 0.00001
NM_025137.4(SPG11):c.2594T>C (p.Ile865Thr) rs1444447384 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.265T>C (p.Trp89Arg) rs767024812 0.00001
NM_025137.4(SPG11):c.2717A>G (p.Gln906Arg) rs2083706533 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.2894G>C (p.Ser965Thr) rs1329747068 0.00001
NM_025137.4(SPG11):c.2937C>A (p.Asn979Lys) rs141238220 0.00001
NM_025137.4(SPG11):c.2966A>G (p.His989Arg) rs752882400 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.304C>T (p.Pro102Ser) rs758322703 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.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.32C>T (p.Ala11Val) rs911245988 0.00001
NM_025137.4(SPG11):c.3331G>A (p.Val1111Met) rs1291873470 0.00001
NM_025137.4(SPG11):c.336A>C (p.Glu112Asp) rs1488126503 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.3453+5A>G rs983973496 0.00001
NM_025137.4(SPG11):c.3505A>G (p.Thr1169Ala) rs760533714 0.00001
NM_025137.4(SPG11):c.3538C>A (p.Pro1180Thr) rs747910594 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.3680A>G (p.Lys1227Arg) rs767920399 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.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.3893C>T (p.Ala1298Val) rs768718170 0.00001
NM_025137.4(SPG11):c.3969A>G (p.Thr1323=) rs1188260876 0.00001
NM_025137.4(SPG11):c.4002G>C (p.Arg1334Ser) rs1085307814 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.4145A>G (p.Asn1382Ser) rs544040175 0.00001
NM_025137.4(SPG11):c.4148A>G (p.Tyr1383Cys) rs1020900055 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.4498A>G (p.Thr1500Ala) rs758867131 0.00001
NM_025137.4(SPG11):c.4548C>G (p.Asn1516Lys) rs759489082 0.00001
NM_025137.4(SPG11):c.4561T>C (p.Ser1521Pro) rs748236366 0.00001
NM_025137.4(SPG11):c.4667A>G (p.Tyr1556Cys) rs1374442173 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.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.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.4910C>A (p.Pro1637Gln) rs755996252 0.00001
NM_025137.4(SPG11):c.4933C>T (p.Leu1645Phe) rs147735958 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.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.5156A>G (p.Glu1719Gly) rs769858527 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.536C>A (p.Pro179His) rs144167846 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.5489G>A (p.Gly1830Asp) rs529748787 0.00001
NM_025137.4(SPG11):c.5564T>C (p.Leu1855Ser) rs138009927 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.5720A>G (p.Asp1907Gly) rs1158214037 0.00001
NM_025137.4(SPG11):c.5741G>T (p.Cys1914Phe) rs752725391 0.00001
NM_025137.4(SPG11):c.5786C>G (p.Pro1929Arg) rs375020581 0.00001
NM_025137.4(SPG11):c.5841C>G (p.Asp1947Glu) rs372380495 0.00001
NM_025137.4(SPG11):c.5860C>T (p.His1954Tyr) rs368382627 0.00001
NM_025137.4(SPG11):c.5920G>T (p.Val1974Leu) rs770707105 0.00001
NM_025137.4(SPG11):c.5947A>C (p.Lys1983Gln) rs1198502086 0.00001
NM_025137.4(SPG11):c.5975G>A (p.Arg1992Gln) rs141262934 0.00001
NM_025137.4(SPG11):c.5987G>C (p.Cys1996Ser) rs1567132702 0.00001
NM_025137.4(SPG11):c.599T>C (p.Val200Ala) rs553484553 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.6155T>C (p.Leu2052Pro) rs1430100305 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.6209A>G (p.His2070Arg) rs202069061 0.00001
NM_025137.4(SPG11):c.6226C>A (p.Pro2076Thr) rs755953167 0.00001
NM_025137.4(SPG11):c.6326A>G (p.His2109Arg) rs780979118 0.00001
NM_025137.4(SPG11):c.6343A>G (p.Thr2115Ala) rs2082447213 0.00001
NM_025137.4(SPG11):c.6380C>A (p.Thr2127Asn) rs773909173 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.6428A>C (p.His2143Pro) rs1490278448 0.00001
NM_025137.4(SPG11):c.6470G>A (p.Gly2157Glu) rs1437823754 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.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.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.6790C>G (p.Leu2264Val) rs1264367885 0.00001
NM_025137.4(SPG11):c.6814A>T (p.Met2272Leu) rs1186136891 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.6907C>G (p.His2303Asp) rs777915558 0.00001
NM_025137.4(SPG11):c.6908A>T (p.His2303Leu) rs1350164343 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.703C>T (p.His235Tyr) rs148934301 0.00001
NM_025137.4(SPG11):c.7054T>C (p.Tyr2352His) rs149711747 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.7255_7256dup (p.Phe2420fs) rs532737377 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.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.79C>T (p.Pro27Ser) rs777798718 0.00001
NM_025137.4(SPG11):c.800A>C (p.Asp267Ala) rs1189328432 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.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.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.(?_44572683)_(44575041_?)del
NC_000015.10:g.(?_44585626)_(44589424_?)dup
NC_000015.10:g.(?_44626311)_(44626527_?)del
NC_000015.10:g.(?_44626321)_(44626517_?)del
NC_000015.9:g.(?_44855299)_44955865dup
NC_000015.9:g.(?_44855319)_(44867259_?)dup
NC_000015.9:g.(?_44855319)_(44878413_?)dup
NC_000015.9:g.(?_44865725)_(44867259_?)dup
NC_000015.9:g.(?_44877814)_(44881632_?)dup
NC_000015.9:g.(?_44877814)_(44955845_?)dup
NC_000015.9:g.(?_44877834)_(44881612_?)dup
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.100C>T (p.Pro34Ser) rs1060501172
NM_025137.4(SPG11):c.1028C>T (p.Ser343Leu) rs2084792703
NM_025137.4(SPG11):c.1032_1034del (p.Leu345del) rs1555381612
NM_025137.4(SPG11):c.1050_1052del (p.Lys350del)
NM_025137.4(SPG11):c.1055C>G (p.Ser352Cys) rs2141107282
NM_025137.4(SPG11):c.1061T>G (p.Leu354Arg)
NM_025137.4(SPG11):c.106G>A (p.Glu36Lys) rs1174925032
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.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.1139G>A (p.Ser380Asn)
NM_025137.4(SPG11):c.1142T>G (p.Val381Gly) rs2084787461
NM_025137.4(SPG11):c.1152G>C (p.Trp384Cys)
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.1184A>C (p.Gln395Pro) rs758480359
NM_025137.4(SPG11):c.1184A>G (p.Gln395Arg) rs758480359
NM_025137.4(SPG11):c.1190A>T (p.Asn397Ile)
NM_025137.4(SPG11):c.1192G>A (p.Val398Ile)
NM_025137.4(SPG11):c.1222G>A (p.Asp408Asn) rs1410107862
NM_025137.4(SPG11):c.1225C>T (p.Pro409Ser)
NM_025137.4(SPG11):c.122T>G (p.Leu41Arg) rs1595945198
NM_025137.4(SPG11):c.1256G>A (p.Ser419Asn) rs2084781481
NM_025137.4(SPG11):c.1275A>G (p.Ile425Met) rs978081175
NM_025137.4(SPG11):c.1288G>T (p.Val430Leu) rs778937794
NM_025137.4(SPG11):c.1321T>C (p.Trp441Arg) rs1036385500
NM_025137.4(SPG11):c.1331A>G (p.Glu444Gly)
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.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.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.1435C>A (p.Gln479Lys) rs2141105806
NM_025137.4(SPG11):c.1456+4A>C rs1311330812
NM_025137.4(SPG11):c.1469C>G (p.Ser490Cys) rs1384102732
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.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.1565G>A (p.Gly522Asp)
NM_025137.4(SPG11):c.1570G>A (p.Gly524Arg) rs1238362916
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.1592A>G (p.His531Arg) rs757589840
NM_025137.4(SPG11):c.1601A>G (p.Glu534Gly) rs778355918
NM_025137.4(SPG11):c.1605C>A (p.Ala535=)
NM_025137.4(SPG11):c.1607G>A (p.Gly536Glu) rs200428589
NM_025137.4(SPG11):c.1611A>G (p.Ile537Met)
NM_025137.4(SPG11):c.1636A>C (p.Asn546His) rs1006002015
NM_025137.4(SPG11):c.1667T>C (p.Phe556Ser) rs375399685
NM_025137.4(SPG11):c.1675T>A (p.Ser559Thr) rs773680273
NM_025137.4(SPG11):c.167G>T (p.Ser56Ile) rs1566838366
NM_025137.4(SPG11):c.1696G>A (p.Asp566Asn) rs2084145691
NM_025137.4(SPG11):c.1700A>C (p.Gln567Pro)
NM_025137.4(SPG11):c.1710C>G (p.His570Gln)
NM_025137.4(SPG11):c.1721A>G (p.His574Arg) rs1555457572
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+4A>G rs2141056546
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.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.1813C>A (p.His605Asn)
NM_025137.4(SPG11):c.1858A>G (p.Asn620Asp) rs2141044861
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.1885A>T (p.Thr629Ser) rs2083988991
NM_025137.4(SPG11):c.1886C>T (p.Thr629Ile)
NM_025137.4(SPG11):c.1891+4A>C rs2141044751
NM_025137.4(SPG11):c.1892A>G (p.Glu631Gly)
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.193G>A (p.Val65Met) rs999651004
NM_025137.4(SPG11):c.194T>G (p.Val65Gly)
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.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.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.2014G>A (p.Glu672Lys) rs2083972403
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.203T>C (p.Leu68Ser)
NM_025137.4(SPG11):c.2056C>T (p.Leu686Phe) rs1160045630
NM_025137.4(SPG11):c.2057T>C (p.Leu686Pro)
NM_025137.4(SPG11):c.2065G>A (p.Glu689Lys) rs2141043236
NM_025137.4(SPG11):c.2067+5G>A rs2141043201
NM_025137.4(SPG11):c.2069A>G (p.Glu690Gly)
NM_025137.4(SPG11):c.2081G>T (p.Ser694Ile)
NM_025137.4(SPG11):c.2086A>T (p.Ile696Phe)
NM_025137.4(SPG11):c.20T>C (p.Val7Ala) rs771083813
NM_025137.4(SPG11):c.2121C>A (p.Phe707Leu) rs1239554492
NM_025137.4(SPG11):c.2128A>G (p.Ile710Val) rs779467011
NM_025137.4(SPG11):c.2143G>T (p.Ala715Ser) rs2083900209
NM_025137.4(SPG11):c.2147A>G (p.Gln716Arg) rs2141037997
NM_025137.4(SPG11):c.2156A>G (p.Glu719Gly) rs2141037979
NM_025137.4(SPG11):c.2184G>C (p.Leu728Phe)
NM_025137.4(SPG11):c.2191G>A (p.Asp731Asn) rs1327322138
NM_025137.4(SPG11):c.2193C>G (p.Asp731Glu)
NM_025137.4(SPG11):c.2204A>G (p.Lys735Arg)
NM_025137.4(SPG11):c.2244+5G>A rs1330702477
NM_025137.4(SPG11):c.2246G>A (p.Gly749Glu)
NM_025137.4(SPG11):c.224G>T (p.Gly75Val) rs922561928
NM_025137.4(SPG11):c.2254G>T (p.Val752Leu) rs1277935331
NM_025137.4(SPG11):c.227G>A (p.Gly76Asp)
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.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.2332G>A (p.Glu778Lys) rs1231809811
NM_025137.4(SPG11):c.233G>T (p.Cys78Phe)
NM_025137.4(SPG11):c.2348C>T (p.Ser783Phe)
NM_025137.4(SPG11):c.2377G>T (p.Val793Leu) rs546601155
NM_025137.4(SPG11):c.2386G>C (p.Val796Leu)
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.2414A>C (p.Gln805Pro) rs2141028960
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.2444+3A>T rs1287398920
NM_025137.4(SPG11):c.244G>A (p.Gly82Ser) rs774004835
NM_025137.4(SPG11):c.2483C>T (p.Ser828Phe) rs2141028113
NM_025137.4(SPG11):c.248C>G (p.Pro83Arg) rs1465468992
NM_025137.4(SPG11):c.2494T>G (p.Ser832Ala) rs2083762073
NM_025137.4(SPG11):c.2509G>T (p.Asp837Tyr)
NM_025137.4(SPG11):c.251T>G (p.Phe84Cys) rs2085177672
NM_025137.4(SPG11):c.2534A>G (p.Gln845Arg) rs1313372102
NM_025137.4(SPG11):c.2546T>C (p.Ile849Thr) rs779087194
NM_025137.4(SPG11):c.2581A>G (p.Thr861Ala) rs2083759221
NM_025137.4(SPG11):c.2586A>C (p.Gln862His) rs533427143
NM_025137.4(SPG11):c.258C>T (p.His86=)
NM_025137.4(SPG11):c.2606G>C (p.Arg869Thr)
NM_025137.4(SPG11):c.2621A>C (p.Glu874Ala) rs2083709845
NM_025137.4(SPG11):c.2627A>G (p.Lys876Arg)
NM_025137.4(SPG11):c.2630C>T (p.Ser877Leu)
NM_025137.4(SPG11):c.2638C>T (p.Pro880Ser)
NM_025137.4(SPG11):c.2669G>T (p.Arg890Leu) rs376143651
NM_025137.4(SPG11):c.2672A>G (p.His891Arg) rs1215566981
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.2698A>T (p.Ile900Phe) rs1239083839
NM_025137.4(SPG11):c.2710C>G (p.Gln904Glu) rs760517153
NM_025137.4(SPG11):c.2714C>A (p.Thr905Asn)
NM_025137.4(SPG11):c.2717A>C (p.Gln906Pro)
NM_025137.4(SPG11):c.271G>T (p.Asp91Tyr)
NM_025137.4(SPG11):c.2732C>T (p.Ser911Leu) rs2141024543
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.277C>A (p.Arg93Ser)
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.2808G>T (p.Arg936Ser) rs2083702773
NM_025137.4(SPG11):c.282C>G (p.Asn94Lys)
NM_025137.4(SPG11):c.2834+5_2834+7del rs759910630
NM_025137.4(SPG11):c.2851G>A (p.Ala951Thr) rs1431880035
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.2885T>C (p.Leu962Pro) rs759969829
NM_025137.4(SPG11):c.2906G>A (p.Gly969Asp) rs2083570700
NM_025137.4(SPG11):c.2912T>G (p.Ile971Arg)
NM_025137.4(SPG11):c.2924T>C (p.Leu975Pro) rs758207568
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.2984A>G (p.Tyr995Cys)
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.3005A>C (p.Gln1002Pro) rs2141014746
NM_025137.4(SPG11):c.3017A>G (p.Tyr1006Cys) rs1374505304
NM_025137.4(SPG11):c.3023A>C (p.Tyr1008Ser) rs776158206
NM_025137.4(SPG11):c.3032G>A (p.Cys1011Tyr)
NM_025137.4(SPG11):c.3039-10T>G rs1567163243
NM_025137.4(SPG11):c.3059C>G (p.Pro1020Arg) rs2141011170
NM_025137.4(SPG11):c.3074A>T (p.Lys1025Ile) rs1567163203
NM_025137.4(SPG11):c.3075A>T (p.Lys1025Asn)
NM_025137.4(SPG11):c.3077A>T (p.Glu1026Val) rs1567163181
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.3122G>C (p.Arg1041Pro)
NM_025137.4(SPG11):c.3124C>G (p.Gln1042Glu)
NM_025137.4(SPG11):c.3145+3A>G rs755042849
NM_025137.4(SPG11):c.3146-5T>A
NM_025137.4(SPG11):c.3146A>T (p.Asp1049Val) rs2083444672
NM_025137.4(SPG11):c.3151A>G (p.Lys1051Glu) rs1595879028
NM_025137.4(SPG11):c.3184C>G (p.Gln1062Glu)
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.3203A>G (p.Asn1068Ser) rs1439670067
NM_025137.4(SPG11):c.3208G>A (p.Ala1070Thr)
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.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.3292G>T (p.Val1098Phe)
NM_025137.4(SPG11):c.3295G>A (p.Val1099Ile)
NM_025137.4(SPG11):c.331T>A (p.Tyr111Asn) rs2085074518
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.3374A>G (p.Lys1125Arg) rs1421555064
NM_025137.4(SPG11):c.3388C>G (p.Leu1130Val)
NM_025137.4(SPG11):c.3399G>T (p.Gln1133His) rs1051475016
NM_025137.4(SPG11):c.341T>C (p.Leu114Pro)
NM_025137.4(SPG11):c.3433A>G (p.Thr1145Ala) rs755490045
NM_025137.4(SPG11):c.3440A>G (p.Tyr1147Cys)
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.3472C>G (p.Pro1158Ala) rs750011115
NM_025137.4(SPG11):c.347A>G (p.Tyr116Cys) rs1186964654
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.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.3516A>G (p.Ile1172Met)
NM_025137.4(SPG11):c.3522T>G (p.Asp1174Glu) rs777278944
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.3571T>A (p.Tyr1191Asn)
NM_025137.4(SPG11):c.3592A>G (p.Asn1198Asp) rs2083159214
NM_025137.4(SPG11):c.359T>G (p.Leu120Trp) rs764858234
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.362A>G (p.Lys121Arg)
NM_025137.4(SPG11):c.3646C>G (p.Leu1216Val) rs12902253
NM_025137.4(SPG11):c.3662T>C (p.Ile1221Thr) rs756274932
NM_025137.4(SPG11):c.3670A>C (p.Lys1224Gln) rs2140982065
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.367G>A (p.Gly123Arg)
NM_025137.4(SPG11):c.3687-13_3687-9del rs766788316
NM_025137.4(SPG11):c.373T>C (p.Cys125Arg) rs2141129973
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.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.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.3824C>A (p.Ala1275Asp)
NM_025137.4(SPG11):c.3839G>C (p.Ser1280Thr)
NM_025137.4(SPG11):c.3853A>G (p.Asn1285Asp) rs1422320754
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+14T>C
NM_025137.4(SPG11):c.3892+3dup rs1265100911
NM_025137.4(SPG11):c.3892+7C>T
NM_025137.4(SPG11):c.3893-8T>A
NM_025137.4(SPG11):c.3893C>G (p.Ala1298Gly)
NM_025137.4(SPG11):c.3901C>A (p.Leu1301Ile) rs2140977252
NM_025137.4(SPG11):c.3905C>T (p.Ser1302Phe)
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.3938A>T (p.Glu1313Val) rs1567150790
NM_025137.4(SPG11):c.3967A>C (p.Thr1323Pro)
NM_025137.4(SPG11):c.3976A>G (p.Ser1326Gly)
NM_025137.4(SPG11):c.3986A>G (p.Gln1329Arg) rs2140976920
NM_025137.4(SPG11):c.4012G>C (p.Glu1338Gln) rs1555451163
NM_025137.4(SPG11):c.4045T>A (p.Phe1349Ile)
NM_025137.4(SPG11):c.4063A>G (p.Met1355Val) rs2140973745
NM_025137.4(SPG11):c.4075A>G (p.Ile1359Val)
NM_025137.4(SPG11):c.4082A>C (p.Tyr1361Ser)
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.4122C>G (p.Phe1374Leu) rs1194478318
NM_025137.4(SPG11):c.4137A>T (p.Gln1379His) rs748617459
NM_025137.4(SPG11):c.415C>G (p.Gln139Glu)
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.434A>G (p.Gln145Arg) rs780634621
NM_025137.4(SPG11):c.435A>C (p.Gln145His)
NM_025137.4(SPG11):c.437A>C (p.Asp146Ala) rs182535774
NM_025137.4(SPG11):c.4384G>A (p.Ala1462Thr) rs2140971741
NM_025137.4(SPG11):c.4402C>G (p.Pro1468Ala) rs2083030697
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.442+5G>A rs752482400
NM_025137.4(SPG11):c.4421C>T (p.Ala1474Val)
NM_025137.4(SPG11):c.4434+3G>A
NM_025137.4(SPG11):c.4435-3C>T rs1555450826
NM_025137.4(SPG11):c.4436G>A (p.Gly1479Asp) rs374303102
NM_025137.4(SPG11):c.4436G>T (p.Gly1479Val)
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.446T>A (p.Ile149Asn) rs1595938156
NM_025137.4(SPG11):c.4487A>T (p.Asp1496Val) rs2140970008
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.4507A>G (p.Met1503Val)
NM_025137.4(SPG11):c.4520A>G (p.Gln1507Arg) rs1267260382
NM_025137.4(SPG11):c.4549C>G (p.Leu1517Val) rs942704467
NM_025137.4(SPG11):c.454T>A (p.Leu152Met)
NM_025137.4(SPG11):c.458C>T (p.Ser153Phe)
NM_025137.4(SPG11):c.4592A>C (p.Gln1531Pro) rs2140969699
NM_025137.4(SPG11):c.4599C>G (p.Ser1533Arg) rs758762845
NM_025137.4(SPG11):c.4625T>G (p.Leu1542Arg) rs2083005246
NM_025137.4(SPG11):c.4636-3A>G rs1433545924
NM_025137.4(SPG11):c.4637_4638insATC (p.Asp1546delinsGluSer) rs1595855150
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.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.4708G>C (p.Ala1570Pro) rs2082922918
NM_025137.4(SPG11):c.4717C>G (p.Leu1573Val) rs560868702
NM_025137.4(SPG11):c.4718T>C (p.Leu1573Pro)
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.4780C>G (p.Pro1594Ala) rs771186100
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.4814T>G (p.Leu1605Arg) rs1260241430
NM_025137.4(SPG11):c.4820A>G (p.Lys1607Arg) rs2082844140
NM_025137.4(SPG11):c.4826T>C (p.Met1609Thr) rs2140956945
NM_025137.4(SPG11):c.4837T>G (p.Cys1613Gly)
NM_025137.4(SPG11):c.4888G>C (p.Glu1630Gln) rs368276916
NM_025137.4(SPG11):c.4904A>G (p.Asp1635Gly)
NM_025137.4(SPG11):c.4915G>A (p.Val1639Met)
NM_025137.4(SPG11):c.4930A>G (p.Ile1644Val) rs1240092659
NM_025137.4(SPG11):c.4955C>A (p.Thr1652Lys)
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.5017T>C (p.Cys1673Arg)
NM_025137.4(SPG11):c.501C>G (p.Phe167Leu) rs771462279
NM_025137.4(SPG11):c.5032G>A (p.Glu1678Lys)
NM_025137.4(SPG11):c.5055A>T (p.Gln1685His)
NM_025137.4(SPG11):c.5086G>A (p.Ala1696Thr) rs2140949961
NM_025137.4(SPG11):c.5106C>G (p.Asn1702Lys) rs762524521
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.5135T>G (p.Met1712Arg) rs1555448989
NM_025137.4(SPG11):c.5136G>A (p.Met1712Ile)
NM_025137.4(SPG11):c.5150A>G (p.His1717Arg)
NM_025137.4(SPG11):c.5177C>G (p.Ala1726Gly) rs1252919994
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.5215A>C (p.Lys1739Gln)
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.5294G>A (p.Gly1765Glu)
NM_025137.4(SPG11):c.529A>G (p.Ile177Val)
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.5326C>T (p.Leu1776Phe)
NM_025137.4(SPG11):c.5330C>G (p.Thr1777Ser)
NM_025137.4(SPG11):c.5354A>C (p.Gln1785Pro) rs1050403502
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.5397G>T (p.Lys1799Asn)
NM_025137.4(SPG11):c.5413C>T (p.Arg1805Cys)
NM_025137.4(SPG11):c.5414G>C (p.Arg1805Pro)
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.5437A>G (p.Arg1813Gly) rs1595843157
NM_025137.4(SPG11):c.5450A>G (p.Glu1817Gly) rs2082711302
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.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.5512G>C (p.Ala1838Pro) rs761774708
NM_025137.4(SPG11):c.5537T>C (p.Leu1846Ser) rs760831525
NM_025137.4(SPG11):c.5551A>C (p.Thr1851Pro)
NM_025137.4(SPG11):c.5557A>G (p.Lys1853Glu)
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.5596T>C (p.Cys1866Arg)
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.5630C>T (p.Ser1877Leu)
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.5689G>A (p.Val1897Ile)
NM_025137.4(SPG11):c.5719G>A (p.Asp1907Asn)
NM_025137.4(SPG11):c.5735T>G (p.Leu1912Trp)
NM_025137.4(SPG11):c.5738A>G (p.His1913Arg) rs2082704823
NM_025137.4(SPG11):c.5747C>T (p.Ala1916Val) rs2140946431
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.5775G>C (p.Glu1925Asp) rs1567138139
NM_025137.4(SPG11):c.5803C>G (p.Leu1935Val) rs746663514
NM_025137.4(SPG11):c.5827G>A (p.Glu1943Lys)
NM_025137.4(SPG11):c.5839G>T (p.Asp1947Tyr) rs751801619
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.5864G>A (p.Ser1955Asn)
NM_025137.4(SPG11):c.5866+5G>A rs1256036525
NM_025137.4(SPG11):c.5866+5G>C rs1256036525
NM_025137.4(SPG11):c.5878G>A (p.Asp1960Asn) rs761271386
NM_025137.4(SPG11):c.5881A>G (p.Ser1961Gly)
NM_025137.4(SPG11):c.5911A>G (p.Asn1971Asp)
NM_025137.4(SPG11):c.5918T>C (p.Val1973Ala) rs2082504085
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.5959G>C (p.Gly1987Arg) rs2140931439
NM_025137.4(SPG11):c.5966ACT[1] (p.Tyr1990del) rs2140931403
NM_025137.4(SPG11):c.5980G>T (p.Val1994Phe)
NM_025137.4(SPG11):c.5990T>A (p.Leu1997Gln) rs879367729
NM_025137.4(SPG11):c.59C>A (p.Ala20Glu)
NM_025137.4(SPG11):c.59C>T (p.Ala20Val) rs1453437368
NM_025137.4(SPG11):c.6006+4T>C rs2140931302
NM_025137.4(SPG11):c.6007-3C>G rs1410926036
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.6038C>T (p.Ala2013Val) rs745997529
NM_025137.4(SPG11):c.6056T>C (p.Met2019Thr) rs1268897921
NM_025137.4(SPG11):c.606G>C (p.Met202Ile) rs1555383185
NM_025137.4(SPG11):c.6092G>C (p.Arg2031Pro) rs1365555358
NM_025137.4(SPG11):c.6098A>G (p.Lys2033Arg)
NM_025137.4(SPG11):c.6121A>G (p.Thr2041Ala)
NM_025137.4(SPG11):c.6122C>T (p.Thr2041Ile)
NM_025137.4(SPG11):c.6142A>G (p.Thr2048Ala) rs2082471967
NM_025137.4(SPG11):c.6157G>C (p.Val2053Leu)
NM_025137.4(SPG11):c.6158T>G (p.Val2053Gly) rs2140928866
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.6200G>A (p.Gly2067Glu) rs1339436003
NM_025137.4(SPG11):c.6201A>T (p.Gly2067=) rs764991726
NM_025137.4(SPG11):c.6205+6C>T rs1595828225
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.622C>T (p.Leu208Phe)
NM_025137.4(SPG11):c.6233A>C (p.Glu2078Ala) rs1302238562
NM_025137.4(SPG11):c.6263C>T (p.Thr2088Ile) rs1283621415
NM_025137.4(SPG11):c.6281C>G (p.Thr2094Arg)
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.6308A>G (p.Lys2103Arg) rs1555447440
NM_025137.4(SPG11):c.6327T>A (p.His2109Gln) rs754787719
NM_025137.4(SPG11):c.6347C>G (p.Thr2116Arg) rs751929116
NM_025137.4(SPG11):c.6359T>C (p.Ile2120Thr) rs1236437265
NM_025137.4(SPG11):c.6367C>T (p.His2123Tyr) rs1567129561
NM_025137.4(SPG11):c.637C>A (p.Leu213Ile)
NM_025137.4(SPG11):c.6382C>G (p.Leu2128Val) rs1302560163
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.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.6443A>C (p.Asn2148Thr)
NM_025137.4(SPG11):c.6448C>G (p.Leu2150Val) rs1403957064
NM_025137.4(SPG11):c.6460G>A (p.Glu2154Lys)
NM_025137.4(SPG11):c.6461A>G (p.Glu2154Gly) rs771827244
NM_025137.4(SPG11):c.6467A>G (p.Tyr2156Cys)
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+6_6477+8del rs748324376
NM_025137.4(SPG11):c.6477G>A (p.Val2159=)
NM_025137.4(SPG11):c.6482G>A (p.Arg2161Gln)
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.6508_6510del (p.Asn2170del) rs757237014
NM_025137.4(SPG11):c.6510C>G (p.Asn2170Lys)
NM_025137.4(SPG11):c.6523A>C (p.Ile2175Leu) rs1567128530
NM_025137.4(SPG11):c.6548ACT[1] (p.Tyr2184del)
NM_025137.4(SPG11):c.6554T>C (p.Phe2185Ser) rs2140920863
NM_025137.4(SPG11):c.6590G>C (p.Gly2197Ala)
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.6610C>A (p.Leu2204Met)
NM_025137.4(SPG11):c.6631C>A (p.Arg2211Ser) rs148260507
NM_025137.4(SPG11):c.6656A>G (p.Asn2219Ser)
NM_025137.4(SPG11):c.6656A>T (p.Asn2219Ile)
NM_025137.4(SPG11):c.6667C>A (p.Leu2223Met) rs2140917102
NM_025137.4(SPG11):c.6677G>T (p.Ser2226Ile) rs2082334964
NM_025137.4(SPG11):c.668-10_668-9insTTA rs1595935403
NM_025137.4(SPG11):c.6681G>A (p.Met2227Ile)
NM_025137.4(SPG11):c.6692T>C (p.Ile2231Thr) rs1363230897
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.6743C>G (p.Ser2248Cys) rs1567127087
NM_025137.4(SPG11):c.6751T>C (p.Trp2251Arg)
NM_025137.4(SPG11):c.6754+3_6754+4delinsAG rs2140916862
NM_025137.4(SPG11):c.6755-16_6755-14del
NM_025137.4(SPG11):c.6755-3C>G rs1177654504
NM_025137.4(SPG11):c.6758A>G (p.Asp2253Gly) rs761230564
NM_025137.4(SPG11):c.676G>C (p.Asp226His) rs971078676
NM_025137.4(SPG11):c.676G>T (p.Asp226Tyr)
NM_025137.4(SPG11):c.6775C>G (p.His2259Asp) rs2082307117
NM_025137.4(SPG11):c.6780G>C (p.Gln2260His) rs770643416
NM_025137.4(SPG11):c.6784A>G (p.Lys2262Glu) rs2140914382
NM_025137.4(SPG11):c.6788_6789delinsTG (p.Gln2263Leu)
NM_025137.4(SPG11):c.6803C>T (p.Ala2268Val) rs2082306504
NM_025137.4(SPG11):c.6844G>A (p.Asp2282Asn)
NM_025137.4(SPG11):c.6857G>C (p.Arg2286Pro)
NM_025137.4(SPG11):c.6867G>T (p.Gln2289His)
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.6896C>A (p.Thr2299Asn) rs780006264
NM_025137.4(SPG11):c.6896C>T (p.Thr2299Ile)
NM_025137.4(SPG11):c.6907C>T (p.His2303Tyr) rs777915558
NM_025137.4(SPG11):c.6912T>G (p.Phe2304Leu) rs146914461
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.6934A>G (p.Met2312Val) rs892306308
NM_025137.4(SPG11):c.6945C>G (p.Asn2315Lys) rs1322340631
NM_025137.4(SPG11):c.6965T>C (p.Met2322Thr) rs2082297271
NM_025137.4(SPG11):c.6977T>C (p.Leu2326Pro) rs2082296961
NM_025137.4(SPG11):c.6985C>T (p.Pro2329Ser) rs1399660300
NM_025137.4(SPG11):c.6999+3G>A
NM_025137.4(SPG11):c.7000-8_7000-4del
NM_025137.4(SPG11):c.7006A>C (p.Ile2336Leu)
NM_025137.4(SPG11):c.7006A>G (p.Ile2336Val)
NM_025137.4(SPG11):c.7018G>A (p.Ala2340Thr)
NM_025137.4(SPG11):c.7018G>T (p.Ala2340Ser) rs1375685761
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.7040G>C (p.Trp2347Ser)
NM_025137.4(SPG11):c.7048A>G (p.Ile2350Val) rs780550991
NM_025137.4(SPG11):c.704A>G (p.His235Arg)
NM_025137.4(SPG11):c.7079A>C (p.Asp2360Ala) rs373463137
NM_025137.4(SPG11):c.70C>G (p.Arg24Gly)
NM_025137.4(SPG11):c.7112G>A (p.Arg2371Lys) rs1595815301
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.7151+6T>C
NM_025137.4(SPG11):c.7153T>C (p.Tyr2385His) rs1386550783
NM_025137.4(SPG11):c.7162C>A (p.His2388Asn) rs1567123486
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.7203dup (p.Leu2402fs)
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.7244C>A (p.Ala2415Glu) rs1060501177
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.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.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.7292dup (p.Gln2432fs) rs2140907988
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.7313A>G (p.Lys2438Arg) rs766552088
NM_025137.4(SPG11):c.7318A>C (p.Met2440Leu) rs1595812352
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.76C>G (p.Leu26Val)
NM_025137.4(SPG11):c.772T>C (p.Ser258Pro) rs1555382900
NM_025137.4(SPG11):c.7G>A (p.Ala3Thr) rs1450340724
NM_025137.4(SPG11):c.817A>G (p.Ile273Val)
NM_025137.4(SPG11):c.819T>G (p.Ile273Met) rs1232225260
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.833A>T (p.Asn278Ile) rs75309308
NM_025137.4(SPG11):c.857A>G (p.Asn286Ser) rs2084961885
NM_025137.4(SPG11):c.861G>T (p.Leu287Phe)
NM_025137.4(SPG11):c.869+3A>G
NM_025137.4(SPG11):c.877C>T (p.Pro293Ser) rs919363085
NM_025137.4(SPG11):c.881G>T (p.Gly294Val)
NM_025137.4(SPG11):c.889C>G (p.Leu297Val) rs751101312
NM_025137.4(SPG11):c.896A>G (p.Glu299Gly)
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.916C>T (p.Pro306Ser) rs776413713
NM_025137.4(SPG11):c.929C>T (p.Pro310Leu)
NM_025137.4(SPG11):c.935G>T (p.Gly312Val)
NM_025137.4(SPG11):c.949G>A (p.Asp317Asn) rs773433816
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.970A>C (p.Asn324His) rs997623054
NM_025137.4(SPG11):c.986A>G (p.Lys329Arg) rs2084801193
NM_025137.4(SPG11):c.98T>C (p.Val33Ala) rs1555384018
NM_025137.4(SPG11):c.992C>T (p.Ser331Phe)

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