NM_025137.4(SPG11):c.5121G>T (p.Glu1707Asp)
|
rs145643238
|
0.00103
|
NM_025137.4(SPG11):c.1384T>C (p.Cys462Arg)
|
rs139019255
|
0.00058
|
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.1126A>G (p.Asn376Asp)
|
rs199765540
|
0.00041
|
NM_025137.4(SPG11):c.1270C>A (p.Pro424Thr)
|
rs141596008
|
0.00040
|
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.395G>A (p.Ser132Asn)
|
rs145132275
|
0.00026
|
NM_025137.4(SPG11):c.3988C>G (p.Gln1330Glu)
|
rs375363608
|
0.00025
|
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.2897G>A (p.Arg966His)
|
rs200281262
|
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.1433A>G (p.Gln478Arg)
|
rs142428867
|
0.00016
|
NM_025137.4(SPG11):c.5315G>A (p.Arg1772His)
|
rs150823040
|
0.00016
|
NM_025137.4(SPG11):c.5969A>G (p.Tyr1990Cys)
|
rs199920965
|
0.00016
|
NM_025137.4(SPG11):c.979C>G (p.Leu327Val)
|
rs146109825
|
0.00016
|
NM_025137.4(SPG11):c.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.6307A>G (p.Lys2103Glu)
|
rs1199605323
|
0.00012
|
NM_025137.4(SPG11):c.1562A>G (p.Asn521Ser)
|
rs143528472
|
0.00011
|
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.3320G>C (p.Cys1107Ser)
|
rs201271196
|
0.00009
|
NM_025137.4(SPG11):c.377A>G (p.Asp126Gly)
|
rs142097614
|
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.1801C>A (p.Pro601Thr)
|
rs775799559
|
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.2087T>G (p.Ile696Ser)
|
rs150746549
|
0.00006
|
NM_025137.4(SPG11):c.316G>A (p.Ala106Thr)
|
rs201842512
|
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.6424G>A (p.Ala2142Thr)
|
rs141035224
|
0.00006
|
NM_025137.4(SPG11):c.6478-4del
|
rs779032507
|
0.00006
|
NM_025137.4(SPG11):c.6944A>C (p.Asn2315Thr)
|
rs200276333
|
0.00006
|
NM_025137.4(SPG11):c.7249G>A (p.Glu2417Lys)
|
rs371313584
|
0.00006
|
NM_025137.4(SPG11):c.1354C>T (p.Leu452Phe)
|
rs141396952
|
0.00005
|
NM_025137.4(SPG11):c.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.2068-4C>T
|
rs774288495
|
0.00004
|
NM_025137.4(SPG11):c.3584A>G (p.Glu1195Gly)
|
rs775875753
|
0.00004
|
NM_025137.4(SPG11):c.5645T>C (p.Ile1882Thr)
|
rs760815236
|
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.7189A>C (p.Asn2397His)
|
rs779892720
|
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.1619G>A (p.Arg540His)
|
rs750200448
|
0.00003
|
NM_025137.4(SPG11):c.2003A>G (p.Tyr668Cys)
|
rs764762491
|
0.00003
|
NM_025137.4(SPG11):c.3292-1G>T
|
rs201217015
|
0.00003
|
NM_025137.4(SPG11):c.3551G>T (p.Ser1184Ile)
|
rs766403944
|
0.00003
|
NM_025137.4(SPG11):c.3749T>C (p.Ile1250Thr)
|
rs763244237
|
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.5416A>G (p.Ile1806Val)
|
rs1427065816
|
0.00003
|
NM_025137.4(SPG11):c.5650C>T (p.Arg1884Cys)
|
rs752889027
|
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.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.1214A>C (p.Lys405Thr)
|
rs756326438
|
0.00002
|
NM_025137.4(SPG11):c.2008G>A (p.Val670Ile)
|
rs761249365
|
0.00002
|
NM_025137.4(SPG11):c.206C>T (p.Thr69Met)
|
rs764422997
|
0.00002
|
NM_025137.4(SPG11):c.2299A>G (p.Asn767Asp)
|
rs370774571
|
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.329A>G (p.Asn110Ser)
|
rs200665034
|
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.5696G>A (p.Arg1899Gln)
|
rs768303307
|
0.00002
|
NM_025137.4(SPG11):c.6719G>A (p.Arg2240His)
|
rs766384717
|
0.00002
|
NM_025137.4(SPG11):c.7034C>T (p.Pro2345Leu)
|
rs748206574
|
0.00002
|
NM_025137.4(SPG11):c.820G>A (p.Val274Ile)
|
rs543316224
|
0.00002
|
NM_025137.4(SPG11):c.1031C>T (p.Ser344Leu)
|
rs776948550
|
0.00001
|
NM_025137.4(SPG11):c.1276G>A (p.Glu426Lys)
|
rs1158245810
|
0.00001
|
NM_025137.4(SPG11):c.1383G>T (p.Gln461His)
|
rs932177370
|
0.00001
|
NM_025137.4(SPG11):c.150G>C (p.Gln50His)
|
rs745498485
|
0.00001
|
NM_025137.4(SPG11):c.1618C>T (p.Arg540Cys)
|
rs758046989
|
0.00001
|
NM_025137.4(SPG11):c.1777G>A (p.Ala593Thr)
|
rs971713077
|
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.230G>A (p.Arg77His)
|
rs1160672319
|
0.00001
|
NM_025137.4(SPG11):c.2321A>C (p.Glu774Ala)
|
rs566318835
|
0.00001
|
NM_025137.4(SPG11):c.250T>C (p.Phe84Leu)
|
rs749011406
|
0.00001
|
NM_025137.4(SPG11):c.2571G>T (p.Trp857Cys)
|
rs200542854
|
0.00001
|
NM_025137.4(SPG11):c.2620+6T>C
|
rs762381864
|
0.00001
|
NM_025137.4(SPG11):c.2621-5T>C
|
rs1331589550
|
0.00001
|
NM_025137.4(SPG11):c.2937C>A (p.Asn979Lys)
|
rs141238220
|
0.00001
|
NM_025137.4(SPG11):c.304C>T (p.Pro102Ser)
|
rs758322703
|
0.00001
|
NM_025137.4(SPG11):c.3213T>G (p.Ser1071Arg)
|
rs145195036
|
0.00001
|
NM_025137.4(SPG11):c.3291+3A>G
|
rs773192977
|
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.3620G>A (p.Arg1207Gln)
|
rs768433207
|
0.00001
|
NM_025137.4(SPG11):c.4561T>C (p.Ser1521Pro)
|
rs748236366
|
0.00001
|
NM_025137.4(SPG11):c.4750A>G (p.Thr1584Ala)
|
rs1595851014
|
0.00001
|
NM_025137.4(SPG11):c.4801C>G (p.Gln1601Glu)
|
rs764442362
|
0.00001
|
NM_025137.4(SPG11):c.4933C>T (p.Leu1645Phe)
|
rs147735958
|
0.00001
|
NM_025137.4(SPG11):c.496C>G (p.Leu166Val)
|
rs372037097
|
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.5303G>C (p.Ser1768Thr)
|
rs1006117026
|
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.5786C>G (p.Pro1929Arg)
|
rs375020581
|
0.00001
|
NM_025137.4(SPG11):c.5860C>T (p.His1954Tyr)
|
rs368382627
|
0.00001
|
NM_025137.4(SPG11):c.5947A>C (p.Lys1983Gln)
|
rs1198502086
|
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.6343A>G (p.Thr2115Ala)
|
rs2082447213
|
0.00001
|
NM_025137.4(SPG11):c.6395T>C (p.Met2132Thr)
|
rs771913148
|
0.00001
|
NM_025137.4(SPG11):c.6406A>G (p.Ile2136Val)
|
rs370189964
|
0.00001
|
NM_025137.4(SPG11):c.6470G>A (p.Gly2157Glu)
|
rs1437823754
|
0.00001
|
NM_025137.4(SPG11):c.6626G>A (p.Arg2209His)
|
rs576265832
|
0.00001
|
NM_025137.4(SPG11):c.6660G>A (p.Met2220Ile)
|
rs763092541
|
0.00001
|
NM_025137.4(SPG11):c.6712G>A (p.Ala2238Thr)
|
rs35504505
|
0.00001
|
NM_025137.4(SPG11):c.716C>T (p.Ala239Val)
|
rs764680914
|
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.7326del (p.Gly2443fs)
|
rs751228307
|
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.980T>C (p.Leu327Pro)
|
rs201444186
|
0.00001
|
NM_025137.4(SPG11):c.1008-5T>A
|
|
|
NM_025137.4(SPG11):c.1008-5T>G
|
|
|
NM_025137.4(SPG11):c.1066G>A (p.Val356Ile)
|
|
|
NM_025137.4(SPG11):c.106G>A (p.Glu36Lys)
|
rs1174925032
|
|
NM_025137.4(SPG11):c.1073G>T (p.Cys358Phe)
|
|
|
NM_025137.4(SPG11):c.1111T>C (p.Ser371Pro)
|
|
|
NM_025137.4(SPG11):c.1176G>T (p.Met392Ile)
|
|
|
NM_025137.4(SPG11):c.1190A>T (p.Asn397Ile)
|
|
|
NM_025137.4(SPG11):c.1352C>T (p.Thr451Ile)
|
rs1567190879
|
|
NM_025137.4(SPG11):c.1385G>C (p.Cys462Ser)
|
|
|
NM_025137.4(SPG11):c.13G>A (p.Glu5Lys)
|
rs1247084532
|
|
NM_025137.4(SPG11):c.14A>G (p.Glu5Gly)
|
rs911119510
|
|
NM_025137.4(SPG11):c.1529G>A (p.Ser510Asn)
|
rs1408459133
|
|
NM_025137.4(SPG11):c.1558C>T (p.Leu520Phe)
|
rs557277528
|
|
NM_025137.4(SPG11):c.1657G>A (p.Glu553Lys)
|
|
|
NM_025137.4(SPG11):c.1720C>T (p.His574Tyr)
|
|
|
NM_025137.4(SPG11):c.1772G>T (p.Cys591Phe)
|
|
|
NM_025137.4(SPG11):c.17G>C (p.Gly6Ala)
|
rs1205261164
|
|
NM_025137.4(SPG11):c.1809C>G (p.Ser603Arg)
|
|
|
NM_025137.4(SPG11):c.1828T>G (p.Leu610Val)
|
|
|
NM_025137.4(SPG11):c.1858A>G (p.Asn620Asp)
|
rs2141044861
|
|
NM_025137.4(SPG11):c.1866A>G (p.Ile622Met)
|
|
|
NM_025137.4(SPG11):c.1873C>A (p.Leu625Ile)
|
|
|
NM_025137.4(SPG11):c.1892-6C>T
|
|
|
NM_025137.4(SPG11):c.1963A>G (p.Ile655Val)
|
|
|
NM_025137.4(SPG11):c.2012A>C (p.His671Pro)
|
|
|
NM_025137.4(SPG11):c.2039G>C (p.Ser680Thr)
|
|
|
NM_025137.4(SPG11):c.2068-5C>T
|
|
|
NM_025137.4(SPG11):c.2116A>T (p.Thr706Ser)
|
|
|
NM_025137.4(SPG11):c.2121C>A (p.Phe707Leu)
|
rs1239554492
|
|
NM_025137.4(SPG11):c.2184G>C (p.Leu728Phe)
|
|
|
NM_025137.4(SPG11):c.2255T>G (p.Val752Gly)
|
|
|
NM_025137.4(SPG11):c.2330A>G (p.Lys777Arg)
|
|
|
NM_025137.4(SPG11):c.2365A>G (p.Thr789Ala)
|
|
|
NM_025137.4(SPG11):c.2377G>T (p.Val793Leu)
|
rs546601155
|
|
NM_025137.4(SPG11):c.2380C>T (p.His794Tyr)
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NM_025137.4(SPG11):c.2392A>G (p.Lys798Glu)
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NM_025137.4(SPG11):c.23C>T (p.Ala8Val)
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rs200939573
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NM_025137.4(SPG11):c.2612G>C (p.Ser871Thr)
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NM_025137.4(SPG11):c.2614C>G (p.Pro872Ala)
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NM_025137.4(SPG11):c.2626A>G (p.Lys876Glu)
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NM_025137.4(SPG11):c.2710C>G (p.Gln904Glu)
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rs760517153
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NM_025137.4(SPG11):c.278G>C (p.Arg93Pro)
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NM_025137.4(SPG11):c.2824A>C (p.Lys942Gln)
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NM_025137.4(SPG11):c.29C>T (p.Ala10Val)
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rs750165094
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NM_025137.4(SPG11):c.3074A>T (p.Lys1025Ile)
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rs1567163203
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NM_025137.4(SPG11):c.3098G>T (p.Trp1033Leu)
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rs1595881991
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NM_025137.4(SPG11):c.3124C>G (p.Gln1042Glu)
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NM_025137.4(SPG11):c.3152A>C (p.Lys1051Thr)
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NM_025137.4(SPG11):c.3169A>G (p.Ser1057Gly)
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NM_025137.4(SPG11):c.3190T>A (p.Leu1064Met)
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NM_025137.4(SPG11):c.3196C>A (p.Pro1066Thr)
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NM_025137.4(SPG11):c.3212G>C (p.Ser1071Thr)
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NM_025137.4(SPG11):c.3223A>G (p.Met1075Val)
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NM_025137.4(SPG11):c.3244C>T (p.Leu1082Phe)
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NM_025137.4(SPG11):c.3275C>T (p.Pro1092Leu)
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NM_025137.4(SPG11):c.3292-1G>C
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NM_025137.4(SPG11):c.3313G>C (p.Glu1105Gln)
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NM_025137.4(SPG11):c.3323T>C (p.Leu1108Ser)
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NM_025137.4(SPG11):c.332A>T (p.Tyr111Phe)
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rs2141130065
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NM_025137.4(SPG11):c.3365C>T (p.Pro1122Leu)
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NM_025137.4(SPG11):c.3449T>C (p.Ile1150Thr)
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NM_025137.4(SPG11):c.3581T>C (p.Val1194Ala)
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NM_025137.4(SPG11):c.359T>C (p.Leu120Ser)
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NM_025137.4(SPG11):c.359T>G (p.Leu120Trp)
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rs764858234
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NM_025137.4(SPG11):c.3609A>T (p.Leu1203Phe)
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rs1390671994
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NM_025137.4(SPG11):c.3619C>G (p.Arg1207Gly)
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NM_025137.4(SPG11):c.3619C>T (p.Arg1207Trp)
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rs199986067
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NM_025137.4(SPG11):c.3752G>T (p.Gly1251Val)
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NM_025137.4(SPG11):c.3757G>A (p.Ala1253Thr)
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NM_025137.4(SPG11):c.3887C>G (p.Ser1296Cys)
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NM_025137.4(SPG11):c.3922G>A (p.Glu1308Lys)
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rs779198786
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NM_025137.4(SPG11):c.4002-6T>C
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NM_025137.4(SPG11):c.4030G>C (p.Ala1344Pro)
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NM_025137.4(SPG11):c.4072A>C (p.Ser1358Arg)
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NM_025137.4(SPG11):c.4075A>G (p.Ile1359Val)
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NM_025137.4(SPG11):c.4097C>G (p.Ala1366Gly)
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rs774455763
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NM_025137.4(SPG11):c.40G>A (p.Gly14Ser)
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NM_025137.4(SPG11):c.4144A>G (p.Asn1382Asp)
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NM_025137.4(SPG11):c.4157C>T (p.Ala1386Val)
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NM_025137.4(SPG11):c.434A>G (p.Gln145Arg)
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rs780634621
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NM_025137.4(SPG11):c.4363T>A (p.Trp1455Arg)
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NM_025137.4(SPG11):c.443-2A>T
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NM_025137.4(SPG11):c.4453T>C (p.Cys1485Arg)
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NM_025137.4(SPG11):c.4625T>G (p.Leu1542Arg)
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rs2083005246
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NM_025137.4(SPG11):c.4636-3A>G
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rs1433545924
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NM_025137.4(SPG11):c.4675T>G (p.Cys1559Gly)
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rs757658545
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NM_025137.4(SPG11):c.4676G>T (p.Cys1559Phe)
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NM_025137.4(SPG11):c.479A>G (p.His160Arg)
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NM_025137.4(SPG11):c.482A>G (p.Asn161Ser)
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NM_025137.4(SPG11):c.48C>G (p.Ser16Arg)
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NM_025137.4(SPG11):c.5106C>G (p.Asn1702Lys)
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rs762524521
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NM_025137.4(SPG11):c.5121+4T>C
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NM_025137.4(SPG11):c.5150A>G (p.His1717Arg)
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NM_025137.4(SPG11):c.5211T>A (p.Asn1737Lys)
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rs1024346199
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NM_025137.4(SPG11):c.5301C>G (p.Ser1767Arg)
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NM_025137.4(SPG11):c.5374G>A (p.Asp1792Asn)
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NM_025137.4(SPG11):c.5396A>G (p.Lys1799Arg)
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NM_025137.4(SPG11):c.5402T>A (p.Ile1801Asn)
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NM_025137.4(SPG11):c.5413C>T (p.Arg1805Cys)
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NM_025137.4(SPG11):c.5428A>T (p.Thr1810Ser)
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rs1404988525
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NM_025137.4(SPG11):c.5462G>A (p.Arg1821Lys)
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rs777449266
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NM_025137.4(SPG11):c.5497T>C (p.Ser1833Pro)
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rs766375553
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NM_025137.4(SPG11):c.5528T>C (p.Phe1843Ser)
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NM_025137.4(SPG11):c.5570delinsGTTC (p.Leu1857delinsArgSer)
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NM_025137.4(SPG11):c.5651G>A (p.Arg1884His)
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rs767776590
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NM_025137.4(SPG11):c.56C>T (p.Thr19Ile)
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rs1555384052
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NM_025137.4(SPG11):c.5759G>C (p.Gly1920Ala)
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NM_025137.4(SPG11):c.5792T>A (p.Ile1931Asn)
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NM_025137.4(SPG11):c.5800C>T (p.Leu1934Phe)
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NM_025137.4(SPG11):c.5865C>G (p.Ser1955Arg)
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NM_025137.4(SPG11):c.5990T>A (p.Leu1997Gln)
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rs879367729
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NM_025137.4(SPG11):c.601G>C (p.Asp201His)
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NM_025137.4(SPG11):c.6199G>A (p.Gly2067Arg)
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NM_025137.4(SPG11):c.6301T>G (p.Leu2101Val)
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NM_025137.4(SPG11):c.6382C>G (p.Leu2128Val)
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rs1302560163
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NM_025137.4(SPG11):c.6395T>A (p.Met2132Lys)
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NM_025137.4(SPG11):c.6460G>A (p.Glu2154Lys)
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NM_025137.4(SPG11):c.6516G>T (p.Met2172Ile)
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NM_025137.4(SPG11):c.6610C>G (p.Leu2204Val)
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NM_025137.4(SPG11):c.6706G>A (p.Glu2236Lys)
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NM_025137.4(SPG11):c.6754+2_6754+3dup
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rs759090170
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NM_025137.4(SPG11):c.6842A>G (p.Lys2281Arg)
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NM_025137.4(SPG11):c.6896C>T (p.Thr2299Ile)
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NM_025137.4(SPG11):c.6934A>G (p.Met2312Val)
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rs892306308
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NM_025137.4(SPG11):c.6999+1G>A
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rs1191614292
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NM_025137.4(SPG11):c.7000-8_7000-4del
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NM_025137.4(SPG11):c.7048A>G (p.Ile2350Val)
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rs780550991
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NM_025137.4(SPG11):c.7064T>C (p.Val2355Ala)
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NM_025137.4(SPG11):c.7075G>C (p.Gly2359Arg)
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NM_025137.4(SPG11):c.7112G>C (p.Arg2371Thr)
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NM_025137.4(SPG11):c.7158ACA[1] (p.Gln2387del)
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rs376599651
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NM_025137.4(SPG11):c.7187A>G (p.Glu2396Gly)
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NM_025137.4(SPG11):c.7205T>C (p.Leu2402Pro)
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NM_025137.4(SPG11):c.7205_7208del (p.Leu2402fs)
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NM_025137.4(SPG11):c.7208C>T (p.Thr2403Ile)
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NM_025137.4(SPG11):c.7232_7235dup (p.Tyr2412Ter)
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NM_025137.4(SPG11):c.7268T>G (p.Ile2423Ser)
|
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NM_025137.4(SPG11):c.7301G>C (p.Gly2434Ala)
|
rs755064786
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NM_025137.4(SPG11):c.7307G>A (p.Cys2436Tyr)
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NM_025137.4(SPG11):c.833A>T (p.Asn278Ile)
|
rs75309308
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NM_025137.4(SPG11):c.835T>C (p.Ser279Pro)
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NM_025137.4(SPG11):c.926G>C (p.Gly309Ala)
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NM_025137.4(SPG11):c.941A>T (p.Asp314Val)
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NM_025137.4(SPG11):c.991T>G (p.Ser331Ala)
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