NM_025137.4(SPG11):c.667+5C>T
|
rs375485062
|
0.00017
|
NM_025137.4(SPG11):c.5381T>C (p.Leu1794Pro)
|
rs201689565
|
0.00011
|
NM_025137.4(SPG11):c.6157G>A (p.Val2053Met)
|
rs149003934
|
0.00006
|
NM_025137.4(SPG11):c.1085G>A (p.Trp362Ter)
|
rs140385286
|
0.00005
|
NM_025137.4(SPG11):c.733_734del (p.Met245fs)
|
rs312262720
|
0.00005
|
NM_025137.4(SPG11):c.2834+1G>T
|
rs312262749
|
0.00003
|
NM_025137.4(SPG11):c.3292-1G>T
|
rs201217015
|
0.00003
|
NM_025137.4(SPG11):c.2317-13C>G
|
rs372670941
|
0.00002
|
NM_025137.4(SPG11):c.258-2A>C
|
rs781665076
|
0.00002
|
NM_025137.4(SPG11):c.3039-5T>G
|
rs763224175
|
0.00001
|
NM_025137.4(SPG11):c.3687_3688insC (p.Ile1230fs)
|
rs1459810136
|
0.00001
|
NM_025137.4(SPG11):c.4075del (p.Ile1359fs)
|
rs1405032433
|
0.00001
|
NM_025137.4(SPG11):c.6205+1G>A
|
rs753650233
|
0.00001
|
NM_025137.4(SPG11):c.6409C>T (p.Arg2137Ter)
|
rs769898852
|
0.00001
|
NM_025137.4(SPG11):c.6899T>C (p.Leu2300Pro)
|
rs371334506
|
0.00001
|
NC_000015.9:g.(44876757_44877833)_(44881613_44884528)dup
|
|
|
NC_000015.9:g.(?_44887437)_(44891054_?)dup
|
|
|
NM_025137.4(SPG11):c.1008-1G>A
|
rs2141107413
|
|
NM_025137.4(SPG11):c.1235C>G (p.Ser412Ter)
|
rs312262723
|
|
NM_025137.4(SPG11):c.1435C>T (p.Gln479Ter)
|
rs2141105806
|
|
NM_025137.4(SPG11):c.1456+1G>T
|
|
|
NM_025137.4(SPG11):c.1478_1482del (p.Leu493fs)
|
rs758015273
|
|
NM_025137.4(SPG11):c.1602+1G>A
|
|
|
NM_025137.4(SPG11):c.1603-25_1690del
|
rs2141056788
|
|
NM_025137.4(SPG11):c.1825C>T (p.Gln609Ter)
|
|
|
NM_025137.4(SPG11):c.1877del (p.Phe626fs)
|
rs2083989142
|
|
NM_025137.4(SPG11):c.1891+1G>T
|
rs532072204
|
|
NM_025137.4(SPG11):c.1966_1967del (p.Lys656fs)
|
rs1303294230
|
|
NM_025137.4(SPG11):c.2068-1G>A
|
|
|
NM_025137.4(SPG11):c.2146C>T (p.Gln716Ter)
|
rs312262737
|
|
NM_025137.4(SPG11):c.2278T>C (p.Cys760Arg)
|
|
|
NM_025137.4(SPG11):c.2316+5G>A
|
rs879255274
|
|
NM_025137.4(SPG11):c.2444G>A (p.Arg815Lys)
|
|
|
NM_025137.4(SPG11):c.2517del (p.Asp840fs)
|
rs2141027980
|
|
NM_025137.4(SPG11):c.2570G>A (p.Trp857Ter)
|
rs2141027825
|
|
NM_025137.4(SPG11):c.258-2A>G
|
rs781665076
|
|
NM_025137.4(SPG11):c.278del (p.Arg93fs)
|
rs2141130246
|
|
NM_025137.4(SPG11):c.2790del (p.Cys931fs)
|
rs1085307097
|
|
NM_025137.4(SPG11):c.2834+1G>A
|
|
|
NM_025137.4(SPG11):c.2857G>T (p.Glu953Ter)
|
rs372906057
|
|
NM_025137.4(SPG11):c.3057T>A (p.Cys1019Ter)
|
|
|
NM_025137.4(SPG11):c.3114_3145+45del
|
rs2083509815
|
|
NM_025137.4(SPG11):c.3145+1G>T
|
rs956922949
|
|
NM_025137.4(SPG11):c.3292-1G>C
|
|
|
NM_025137.4(SPG11):c.3453+1G>T
|
|
|
NM_025137.4(SPG11):c.3454-28A>G
|
|
|
NM_025137.4(SPG11):c.3521-2A>G
|
|
|
NM_025137.4(SPG11):c.3686+2_3686+3del
|
rs1268481547
|
|
NM_025137.4(SPG11):c.3687-1_3687delinsTA
|
|
|
NM_025137.4(SPG11):c.3687-2A>G
|
|
|
NM_025137.4(SPG11):c.3729del (p.Ser1244fs)
|
rs2140978326
|
|
NM_025137.4(SPG11):c.3785G>T (p.Gly1262Val)
|
rs1057518874
|
|
NM_025137.4(SPG11):c.3808del (p.Val1270fs)
|
|
|
NM_025137.4(SPG11):c.3809T>A (p.Val1270Asp)
|
rs1555451521
|
|
NM_025137.4(SPG11):c.3893-14_3902inv
|
|
|
NM_025137.4(SPG11):c.4002-7_4002-1del
|
|
|
NM_025137.4(SPG11):c.442+4_442+7del
|
|
|
NM_025137.4(SPG11):c.443-1G>A
|
rs1040633382
|
|
NM_025137.4(SPG11):c.4434+1G>A
|
rs1567148391
|
|
NM_025137.4(SPG11):c.4852G>T (p.Glu1618Ter)
|
rs2082843264
|
|
NM_025137.4(SPG11):c.4860dup (p.Lys1621fs)
|
rs1418873962
|
|
NM_025137.4(SPG11):c.4877_4878del (p.Phe1626fs)
|
rs2082842632
|
|
NM_025137.4(SPG11):c.4906+2T>C
|
|
|
NM_025137.4(SPG11):c.4907-10_4911del
|
rs2082751022
|
|
NM_025137.4(SPG11):c.4907-2A>C
|
|
|
NM_025137.4(SPG11):c.5087C>G (p.Ala1696Gly)
|
|
|
NM_025137.4(SPG11):c.5121+2T>G
|
|
|
NM_025137.4(SPG11):c.5122-1G>A
|
rs2140947703
|
|
NM_025137.4(SPG11):c.5148dup (p.His1717fs)
|
rs1422477670
|
|
NM_025137.4(SPG11):c.5175del (p.Ala1726fs)
|
rs1060499768
|
|
NM_025137.4(SPG11):c.5199del (p.Lys1733fs)
|
rs779268551
|
|
NM_025137.4(SPG11):c.5844del (p.Pro1949_Leu1950insTer)
|
rs1323156960
|
|
NM_025137.4(SPG11):c.5866_5866+4del
|
rs771346977
|
|
NM_025137.4(SPG11):c.5972del (p.Cys1991fs)
|
rs2082503070
|
|
NM_025137.4(SPG11):c.5989_5992del (p.Leu1997fs)
|
rs312262776
|
|
NM_025137.4(SPG11):c.6151G>T (p.Glu2051Ter)
|
rs771057519
|
|
NM_025137.4(SPG11):c.6187_6188del (p.Thr2063fs)
|
|
|
NM_025137.4(SPG11):c.6343+1G>T
|
rs1555447432
|
|
NM_025137.4(SPG11):c.6437_6438del (p.Thr2146fs)
|
rs2082401685
|
|
NM_025137.4(SPG11):c.6449_6455del (p.Leu2150fs)
|
rs1304713296
|
|
NM_025137.4(SPG11):c.6478-2A>C
|
rs2082374687
|
|
NM_025137.4(SPG11):c.6478-2A>G
|
|
|
NM_025137.4(SPG11):c.6500del (p.Gly2167fs)
|
rs2140921013
|
|
NM_025137.4(SPG11):c.6585+2T>G
|
rs2140920796
|
|
NM_025137.4(SPG11):c.6586-1G>A
|
rs1060501174
|
|
NM_025137.4(SPG11):c.6586-1G>T
|
rs1060501174
|
|
NM_025137.4(SPG11):c.667+1G>A
|
|
|
NM_025137.4(SPG11):c.668-1G>T
|
rs2141121333
|
|
NM_025137.4(SPG11):c.6737_6740del (p.Ile2246fs)
|
rs312262781
|
|
NM_025137.4(SPG11):c.6754+2_6754+3dup
|
rs759090170
|
|
NM_025137.4(SPG11):c.6755-1G>A
|
|
|
NM_025137.4(SPG11):c.6826_6843+8del
|
rs1595817498
|
|
NM_025137.4(SPG11):c.6844-2A>G
|
rs2140913822
|
|
NM_025137.4(SPG11):c.6871dup (p.Cys2291fs)
|
|
|
NM_025137.4(SPG11):c.6899T>G (p.Leu2300Arg)
|
rs371334506
|
|
NM_025137.4(SPG11):c.6925C>T (p.Gln2309Ter)
|
rs1595817021
|
|
NM_025137.4(SPG11):c.6967dup (p.Asp2323fs)
|
|
|
NM_025137.4(SPG11):c.696T>A (p.Tyr232Ter)
|
|
|
NM_025137.4(SPG11):c.6999+1G>A
|
rs1191614292
|
|
NM_025137.4(SPG11):c.6999+1G>C
|
rs1191614292
|
|
NM_025137.4(SPG11):c.6999+1G>T
|
|
|
NM_025137.4(SPG11):c.7000-3_7000-2delinsGC
|
rs2140911612
|
|
NM_025137.4(SPG11):c.7000-3_7000-2insAGG
|
rs312262787
|
|
NM_025137.4(SPG11):c.7000G>C (p.Ala2334Pro)
|
|
|
NM_025137.4(SPG11):c.7023C>G (p.Tyr2341Ter)
|
|
|
NM_025137.4(SPG11):c.7150A>T (p.Lys2384Ter)
|
rs1555446078
|
|
NM_025137.4(SPG11):c.7155T>G (p.Tyr2385Ter)
|
rs778305085
|
|
NM_025137.4(SPG11):c.7158_7161dup (p.His2388fs)
|
rs1567123492
|
|