NM_025137.4(SPG11):c.1108G>A (p.Glu370Lys)
|
rs77697105
|
0.01678
|
NM_025137.4(SPG11):c.2083G>A (p.Ala695Thr)
|
rs78183930
|
0.01302
|
NM_025137.4(SPG11):c.7256A>G (p.Lys2419Arg)
|
rs76116949
|
0.01253
|
NM_025137.4(SPG11):c.3037A>G (p.Lys1013Glu)
|
rs111347025
|
0.00958
|
NM_025137.4(SPG11):c.808G>A (p.Val270Ile)
|
rs80338868
|
0.00845
|
NM_025137.4(SPG11):c.7197G>A (p.Lys2399=)
|
rs61732733
|
0.00809
|
NM_025137.4(SPG11):c.6258G>T (p.Leu2086=)
|
rs150761878
|
0.00781
|
NM_025137.4(SPG11):c.3818A>G (p.Lys1273Arg)
|
rs76389165
|
0.00694
|
NM_025137.4(SPG11):c.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.6759C>G (p.Asp2253Glu)
|
rs141818132
|
0.00175
|
NM_025137.4(SPG11):c.3436A>G (p.Ile1146Val)
|
rs114945876
|
0.00165
|
NM_025137.4(SPG11):c.4744-6T>C
|
rs147550048
|
0.00153
|
NM_025137.4(SPG11):c.7069C>T (p.Leu2357Phe)
|
rs139334167
|
0.00147
|
NM_025137.4(SPG11):c.16G>A (p.Gly6Arg)
|
rs200573434
|
0.00145
|
NM_025137.4(SPG11):c.2887A>C (p.Arg963=)
|
rs150689014
|
0.00127
|
NM_025137.4(SPG11):c.5121G>T (p.Glu1707Asp)
|
rs145643238
|
0.00103
|
NM_025137.4(SPG11):c.7161A>T (p.Gln2387His)
|
rs201918221
|
0.00086
|
NM_025137.4(SPG11):c.4755A>C (p.Ala1585=)
|
rs144951661
|
0.00083
|
NM_025137.4(SPG11):c.4026A>G (p.Gln1342=)
|
rs139887370
|
0.00066
|
NM_025137.4(SPG11):c.1605C>T (p.Ala535=)
|
rs117683234
|
0.00045
|
NM_025137.4(SPG11):c.6632G>A (p.Arg2211His)
|
rs144165094
|
0.00045
|
NM_025137.4(SPG11):c.3486T>C (p.Phe1162=)
|
rs139532029
|
0.00039
|
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.2265A>G (p.Gln755=)
|
rs142909555
|
0.00020
|
NM_025137.4(SPG11):c.5796T>C (p.His1932=)
|
rs375350193
|
0.00019
|
NM_025137.4(SPG11):c.6878G>A (p.Arg2293Gln)
|
rs201721414
|
0.00016
|
NM_025137.4(SPG11):c.979C>G (p.Leu327Val)
|
rs146109825
|
0.00016
|
NM_025137.4(SPG11):c.6877C>T (p.Arg2293Trp)
|
rs151317653
|
0.00014
|
NM_025137.4(SPG11):c.2075T>C (p.Ile692Thr)
|
rs144012151
|
0.00013
|
NM_025137.4(SPG11):c.5753C>A (p.Ala1918Asp)
|
rs368992436
|
0.00006
|
NM_025137.4(SPG11):c.7146C>T (p.Ser2382=)
|
rs747227352
|
0.00006
|
NM_025137.4(SPG11):c.1248G>T (p.Met416Ile)
|
rs371310453
|
0.00004
|
NM_025137.4(SPG11):c.1030T>C (p.Ser344Pro)
|
rs1235556400
|
0.00003
|
NM_025137.4(SPG11):c.1759T>C (p.Leu587=)
|
rs1438765066
|
0.00003
|
NM_025137.4(SPG11):c.2377G>A (p.Val793Met)
|
rs546601155
|
0.00003
|
NM_025137.4(SPG11):c.3894C>T (p.Ala1298=)
|
rs1352070054
|
0.00003
|
NM_025137.4(SPG11):c.4972C>T (p.His1658Tyr)
|
rs775877332
|
0.00003
|
NM_025137.4(SPG11):c.6091C>G (p.Arg2031Gly)
|
rs147713329
|
0.00003
|
NM_025137.4(SPG11):c.6621C>G (p.Ile2207Met)
|
rs758008249
|
0.00003
|
NM_025137.4(SPG11):c.176C>T (p.Ala59Val)
|
rs552320263
|
0.00002
|
NM_025137.4(SPG11):c.4122C>T (p.Phe1374=)
|
rs1194478318
|
0.00002
|
NM_025137.4(SPG11):c.5623C>T (p.Gln1875Ter)
|
rs141848292
|
0.00002
|
NM_025137.4(SPG11):c.6497T>C (p.Ile2166Thr)
|
rs199873327
|
0.00002
|
NM_025137.4(SPG11):c.1207C>T (p.His403Tyr)
|
rs1331463203
|
0.00001
|
NM_025137.4(SPG11):c.1492C>T (p.Gln498Ter)
|
rs312262728
|
0.00001
|
NM_025137.4(SPG11):c.150G>C (p.Gln50His)
|
rs745498485
|
0.00001
|
NM_025137.4(SPG11):c.159T>C (p.Ala53=)
|
rs1172849528
|
0.00001
|
NM_025137.4(SPG11):c.2379G>A (p.Val793=)
|
rs202245950
|
0.00001
|
NM_025137.4(SPG11):c.255G>A (p.Trp85Ter)
|
rs957519261
|
0.00001
|
NM_025137.4(SPG11):c.2966A>G (p.His989Arg)
|
rs752882400
|
0.00001
|
NM_025137.4(SPG11):c.304C>T (p.Pro102Ser)
|
rs758322703
|
0.00001
|
NM_025137.4(SPG11):c.3134G>A (p.Ser1045Asn)
|
rs749192217
|
0.00001
|
NM_025137.4(SPG11):c.3221G>C (p.Ser1074Thr)
|
rs758982525
|
0.00001
|
NM_025137.4(SPG11):c.3453+5A>G
|
rs983973496
|
0.00001
|
NM_025137.4(SPG11):c.3587G>A (p.Arg1196His)
|
rs373641013
|
0.00001
|
NM_025137.4(SPG11):c.3778T>C (p.Leu1260=)
|
rs776154524
|
0.00001
|
NM_025137.4(SPG11):c.4674G>C (p.Leu1558=)
|
rs376125033
|
0.00001
|
NM_025137.4(SPG11):c.5082A>G (p.Glu1694=)
|
rs914692956
|
0.00001
|
NM_025137.4(SPG11):c.612T>C (p.Ile204=)
|
rs906644527
|
0.00001
|
NM_025137.4(SPG11):c.6409C>T (p.Arg2137Ter)
|
rs769898852
|
0.00001
|
NM_025137.4(SPG11):c.6718C>T (p.Arg2240Cys)
|
rs146937747
|
0.00001
|
NM_025137.4(SPG11):c.7255_7256dup (p.Phe2420fs)
|
rs532737377
|
0.00001
|
NM_025137.4(SPG11):c.7321C>A (p.Leu2441Ile)
|
rs1313297244
|
0.00001
|
NM_025137.4(SPG11):c.79C>T (p.Pro27Ser)
|
rs777798718
|
0.00001
|
GRCh37/hg19 15q21.1(chr15:44912388-44925835)x1
|
|
|
NM_025137.4(SPG11):c.1603-5T>C
|
rs2084149728
|
|
NM_025137.4(SPG11):c.1818_1819del (p.Ser607fs)
|
rs1220982145
|
|
NM_025137.4(SPG11):c.219G>A (p.Arg73=)
|
|
|
NM_025137.4(SPG11):c.2223C>T (p.Ala741=)
|
|
|
NM_025137.4(SPG11):c.227del (p.Gly76fs)
|
|
|
NM_025137.4(SPG11):c.251T>G (p.Phe84Cys)
|
rs2085177672
|
|
NM_025137.4(SPG11):c.2583A>C (p.Thr861=)
|
rs2141027797
|
|
NM_025137.4(SPG11):c.2621-15dup
|
rs577083743
|
|
NM_025137.4(SPG11):c.2621-6A>G
|
|
|
NM_025137.4(SPG11):c.2621-8del
|
rs577083743
|
|
NM_025137.4(SPG11):c.2641G>A (p.Glu881Lys)
|
rs1595889023
|
|
NM_025137.4(SPG11):c.264A>G (p.Leu88=)
|
rs779845183
|
|
NM_025137.4(SPG11):c.267G>A (p.Trp89Ter)
|
rs312262709
|
|
NM_025137.4(SPG11):c.2719C>A (p.His907Asn)
|
rs1411461951
|
|
NM_025137.4(SPG11):c.2903G>A (p.Gly968Glu)
|
|
|
NM_025137.4(SPG11):c.3075dup (p.Glu1026fs)
|
rs312262752
|
|
NM_025137.4(SPG11):c.3237A>T (p.Gly1079=)
|
|
|
NM_025137.4(SPG11):c.3271T>G (p.Ser1091Ala)
|
rs2141004955
|
|
NM_025137.4(SPG11):c.339G>C (p.Leu113=)
|
rs373238538
|
|
NM_025137.4(SPG11):c.4123ATT[1] (p.Ile1376del)
|
rs2140973530
|
|
NM_025137.4(SPG11):c.442+1G>C
|
rs312262715
|
|
NM_025137.4(SPG11):c.4434+1G>A
|
rs1567148391
|
|
NM_025137.4(SPG11):c.4473C>T (p.Ile1491=)
|
rs2083009929
|
|
NM_025137.4(SPG11):c.5121+7_5121+9del
|
rs1567139976
|
|
NM_025137.4(SPG11):c.5553A>T (p.Thr1851=)
|
|
|
NM_025137.4(SPG11):c.6091C>T (p.Arg2031Ter)
|
rs147713329
|
|
NM_025137.4(SPG11):c.6303G>A (p.Leu2101=)
|
rs1595826884
|
|
NM_025137.4(SPG11):c.6347C>G (p.Thr2116Arg)
|
rs751929116
|
|
NM_025137.4(SPG11):c.6367C>T (p.His2123Tyr)
|
rs1567129561
|
|
NM_025137.4(SPG11):c.636T>A (p.Ile212=)
|
rs1595937717
|
|
NM_025137.4(SPG11):c.6477+13del
|
rs574960359
|
|
NM_025137.4(SPG11):c.6737_6740del (p.Ile2246fs)
|
rs312262781
|
|
NM_025137.4(SPG11):c.6755A>C (p.Glu2252Ala)
|
rs1555446548
|
|
NM_025137.4(SPG11):c.6898_6899del (p.Leu2300fs)
|
rs312262786
|
|
NM_025137.4(SPG11):c.6912T>G (p.Phe2304Leu)
|
rs146914461
|
|
NM_025137.4(SPG11):c.6925C>T (p.Gln2309Ter)
|
rs1595817021
|
|
NM_025137.4(SPG11):c.7155T>A (p.Tyr2385Ter)
|
rs778305085
|
|
NM_025137.4(SPG11):c.759A>G (p.Pro253=)
|
|
|
NM_025137.4(SPG11):c.782C>T (p.Ser261Leu)
|
rs765477482
|
|
NM_025137.4(SPG11):c.833A>T (p.Asn278Ile)
|
rs75309308
|
|
NM_025137.4(SPG11):c.869+1G>T
|
rs312262721
|
|
NM_025137.4(SPG11):c.966C>T (p.Ala322=)
|
|
|