NM_025137.4(SPG11):c.7023C>T (p.Tyr2341=)
|
rs80338869
|
0.02054
|
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.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.2656T>C (p.Tyr886His)
|
rs139687202
|
0.00369
|
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.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.5121G>T (p.Glu1707Asp)
|
rs145643238
|
0.00103
|
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.763A>G (p.Lys255Glu)
|
rs139091750
|
0.00049
|
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.1126A>G (p.Asn376Asp)
|
rs199765540
|
0.00041
|
NM_025137.4(SPG11):c.1270C>A (p.Pro424Thr)
|
rs141596008
|
0.00040
|
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.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.491C>T (p.Ser164Leu)
|
rs148175530
|
0.00024
|
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.5796T>C (p.His1932=)
|
rs375350193
|
0.00019
|
NM_025137.4(SPG11):c.4873C>T (p.Leu1625Phe)
|
rs371716779
|
0.00017
|
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.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.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.5381T>C (p.Leu1794Pro)
|
rs201689565
|
0.00011
|
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.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.1602+10T>G
|
rs201535432
|
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.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.6410G>A (p.Arg2137Gln)
|
rs200283964
|
0.00007
|
NM_025137.4(SPG11):c.841G>T (p.Val281Phe)
|
rs754144151
|
0.00007
|
NM_025137.4(SPG11):c.1008-4C>T
|
rs369112409
|
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.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.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.6157G>A (p.Val2053Met)
|
rs149003934
|
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.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.1933A>G (p.Ser645Gly)
|
rs768519061
|
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.5471G>A (p.Arg1824Gln)
|
rs752401008
|
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.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.36C>T (p.Ser12=)
|
rs368656047
|
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.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.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.1182G>A (p.Gly394=)
|
rs199968487
|
0.00002
|
NM_025137.4(SPG11):c.1214A>C (p.Lys405Thr)
|
rs756326438
|
0.00002
|
NM_025137.4(SPG11):c.176C>T (p.Ala59Val)
|
rs552320263
|
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.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.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.3146-6T>G
|
rs777849932
|
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.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.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.5407C>T (p.Leu1803=)
|
rs200102584
|
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.891G>A (p.Leu297=)
|
rs765967405
|
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.1618C>T (p.Arg540Cys)
|
rs758046989
|
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.1763A>G (p.Asp588Gly)
|
rs763060505
|
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.2727T>C (p.Tyr909=)
|
rs759432908
|
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.295A>G (p.Thr99Ala)
|
rs2085075688
|
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.39C>T (p.Ala13=)
|
rs759646328
|
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.4674G>C (p.Leu1558=)
|
rs376125033
|
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.5113A>G (p.Ile1705Val)
|
rs959255565
|
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.5595A>G (p.Thr1865=)
|
rs375403626
|
0.00001
|
NM_025137.4(SPG11):c.5598C>T (p.Cys1866=)
|
rs570599267
|
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.581C>T (p.Pro194Leu)
|
rs573482671
|
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.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.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.6726A>G (p.Gln2242=)
|
rs376245210
|
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.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.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.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.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.1292C>T (p.Ser431Phe)
|
rs886051183
|
|
NM_025137.4(SPG11):c.1313T>C (p.Leu438Pro)
|
|
|
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.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.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.169C>T (p.Leu57=)
|
rs777780299
|
|
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.1819T>G (p.Ser607Ala)
|
rs886051182
|
|
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.1939A>C (p.Ile647Leu)
|
rs375256495
|
|
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.200C>T (p.Ser67Phe)
|
rs985265616
|
|
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.208C>A (p.Pro70Thr)
|
rs886051184
|
|
NM_025137.4(SPG11):c.20T>C (p.Val7Ala)
|
rs771083813
|
|
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.2128A>G (p.Ile710Val)
|
rs779467011
|
|
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.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>C (p.Gly75Ala)
|
rs922561928
|
|
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.2445-8G>C
|
rs777673463
|
|
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.2486T>G (p.Val829Gly)
|
rs1555455561
|
|
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.2621-15T>C
|
rs188590034
|
|
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.2633A>T (p.Tyr878Phe)
|
rs748331814
|
|
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.277C>T (p.Arg93Cys)
|
rs764731214
|
|
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.2896C>A (p.Arg966Ser)
|
rs771538317
|
|
NM_025137.4(SPG11):c.2906G>A (p.Gly969Asp)
|
rs2083570700
|
|
NM_025137.4(SPG11):c.2912T>G (p.Ile971Arg)
|
|
|
NM_025137.4(SPG11):c.2915A>G (p.Gln972Arg)
|
rs201282600
|
|
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.3037_3038+8del
|
|
|
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.3132C>G (p.Ala1044=)
|
rs770666794
|
|
NM_025137.4(SPG11):c.3138C>T (p.Asn1046=)
|
rs2083512162
|
|
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.3148C>T (p.Pro1050Ser)
|
rs2083444609
|
|
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.3476G>A (p.Ser1159Asn)
|
rs2083310810
|
|
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.3687-8T>C
|
rs2083112248
|
|
NM_025137.4(SPG11):c.3725T>C (p.Leu1242Pro)
|
rs2083110455
|
|
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.3934A>C (p.Thr1312Pro)
|
rs754276052
|
|
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.3989A>G (p.Gln1330Arg)
|
rs2083094391
|
|
NM_025137.4(SPG11):c.4001G>A (p.Arg1334Lys)
|
|
|
NM_025137.4(SPG11):c.4012G>C (p.Glu1338Gln)
|
rs1555451163
|
|
NM_025137.4(SPG11):c.4045T>A (p.Phe1349Ile)
|
|
|
NM_025137.4(SPG11):c.4052G>A (p.Arg1351Lys)
|
rs564171625
|
|
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.4118A>G (p.Gln1373Arg)
|
rs2140973544
|
|
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.4161+9C>G
|
rs1555451101
|
|
NM_025137.4(SPG11):c.4162-10T>C
|
rs765557765
|
|
NM_025137.4(SPG11):c.4162-4C>T
|
rs777010404
|
|
NM_025137.4(SPG11):c.42C>A (p.Gly14=)
|
rs376542524
|
|
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.437A>G (p.Asp146Gly)
|
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.442+5G>T
|
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.4717C>T (p.Leu1573=)
|
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.4906+1G>A
|
rs1567142780
|
|
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.5664T>C (p.Asp1888=)
|
rs886051181
|
|
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.5960G>C (p.Gly1987Ala)
|
rs370519546
|
|
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.6007-6T>C
|
rs886051180
|
|
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.6021del (p.Tyr2008fs)
|
rs886051179
|
|
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.60G>C (p.Ala20=)
|
rs544136842
|
|
NM_025137.4(SPG11):c.6121A>G (p.Thr2041Ala)
|
|
|
NM_025137.4(SPG11):c.6122C>T (p.Thr2041Ile)
|
|
|
NM_025137.4(SPG11):c.6130C>A (p.Leu2044Ile)
|
rs886051178
|
|
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+10C>G
|
rs548551204
|
|
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.6283T>C (p.Leu2095=)
|
rs2082448894
|
|
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.6344-20A>C
|
rs1595824228
|
|
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.6423_6433dup (p.Leu2145fs)
|
|
|
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+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.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.6555T>A (p.Phe2185Leu)
|
rs2140920859
|
|
NM_025137.4(SPG11):c.6568A>C (p.Arg2190=)
|
rs1383809148
|
|
NM_025137.4(SPG11):c.6590G>A (p.Gly2197Asp)
|
rs756548501
|
|
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.668-28G>A
|
rs749231608
|
|
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.6754G>A (p.Glu2252Lys)
|
rs2140916872
|
|
NM_025137.4(SPG11):c.6755-16_6755-14del
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|
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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>A (p.Gln2260=)
|
rs770643416
|
|
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>C (p.Gln2289His)
|
rs762598343
|
|
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.6899T>G (p.Leu2300Arg)
|
rs371334506
|
|
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.7000-8C>T
|
rs886051177
|
|
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.7015G>A (p.Glu2339Lys)
|
rs753466044
|
|
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.7033C>T (p.Pro2345Ser)
|
|
|
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+11A>C
|
rs779150349
|
|
NM_025137.4(SPG11):c.7151+6T>C
|
|
|
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.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.7203A>G (p.Leu2401=)
|
rs886051176
|
|
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.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.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.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.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)
|
|
|