NM_025137.4(SPG11):c.3818A>G (p.Lys1273Arg)
|
rs76389165
|
0.00694
|
NM_001003800.2(BICD2):c.269A>G (p.Lys90Arg)
|
rs61754130
|
0.00437
|
NM_002361.4(MAG):c.452C>T (p.Ala151Val)
|
rs144553163
|
0.00387
|
NM_006612.6(KIF1C):c.1111G>A (p.Ala371Thr)
|
rs142056835
|
0.00379
|
NM_003119.4(SPG7):c.1529C>T (p.Ala510Val)
|
rs61755320
|
0.00361
|
NM_014363.6(SACS):c.13717A>C (p.Asn4573His)
|
rs34382952
|
0.00326
|
NM_138368.5(AP5B1):c.1201C>T (p.Leu401Phe)
|
rs201041158
|
0.00319
|
NM_020839.4(WDR48):c.280T>G (p.Ser94Ala)
|
rs148407227
|
0.00279
|
NM_014363.6(SACS):c.1373C>T (p.Thr458Ile)
|
rs61729954
|
0.00227
|
NM_006612.6(KIF1C):c.2299G>A (p.Gly767Arg)
|
rs118037269
|
0.00157
|
NM_006612.6(KIF1C):c.2734C>T (p.Arg912Trp)
|
rs202232792
|
0.00115
|
NM_015046.7(SETX):c.3229G>A (p.Asp1077Asn)
|
rs145097270
|
0.00105
|
NM_003119.4(SPG7):c.1933T>A (p.Ser645Thr)
|
rs2099104
|
0.00073
|
NM_001012301.4(ARSI):c.1114G>A (p.Asp372Asn)
|
rs150211860
|
0.00068
|
NM_020919.4(ALS2):c.3206G>A (p.Gly1069Glu)
|
rs200706696
|
0.00057
|
NM_004820.5(CYP7B1):c.1456C>T (p.Arg486Cys)
|
rs116171274
|
0.00051
|
NM_004990.4(MARS1):c.-18C>T
|
rs201535531
|
0.00039
|
NM_015046.7(SETX):c.3826C>G (p.Gln1276Glu)
|
rs148604312
|
0.00039
|
NM_002156.5(HSPD1):c.551A>G (p.Asn184Ser)
|
rs67967266
|
0.00035
|
NM_002361.4(MAG):c.1117A>C (p.Ser373Arg)
|
rs142375870
|
0.00022
|
NM_014855.3(AP5Z1):c.2053C>T (p.Arg685Cys)
|
rs367867460
|
0.00017
|
NM_006612.6(KIF1C):c.2591G>A (p.Arg864His)
|
rs146628704
|
0.00014
|
NM_020919.4(ALS2):c.3746T>C (p.Phe1249Ser)
|
rs551822626
|
0.00014
|
NM_014855.3(AP5Z1):c.2014G>A (p.Glu672Lys)
|
rs145463842
|
0.00010
|
NM_004820.5(CYP7B1):c.825T>A (p.Tyr275Ter)
|
rs121908613
|
0.00008
|
NM_001122955.4(BSCL2):c.895G>A (p.Ala299Thr)
|
rs141377075
|
0.00007
|
NM_001012301.4(ARSI):c.1456C>T (p.Arg486Cys)
|
rs139095592
|
0.00006
|
NM_001368809.2(AMPD2):c.1180G>A (p.Val394Met)
|
rs374249741
|
0.00005
|
NM_025137.4(SPG11):c.733_734del (p.Met245fs)
|
rs312262720
|
0.00005
|
NM_003119.4(SPG7):c.1447C>T (p.Gln483Ter)
|
rs562890289
|
0.00004
|
NM_014855.3(AP5Z1):c.272G>A (p.Arg91Gln)
|
rs750211507
|
0.00004
|
NM_020944.3(GBA2):c.1888C>T (p.Arg630Trp)
|
rs398123012
|
0.00003
|
NM_012073.5(CCT5):c.487G>A (p.Glu163Lys)
|
rs552008894
|
0.00002
|
NM_013280.5(FLRT1):c.1591G>A (p.Asp531Asn)
|
rs752014510
|
0.00002
|
NM_031448.6(C19orf12):c.124G>A (p.Gly42Arg)
|
rs200133991
|
0.00002
|
NM_002361.4(MAG):c.1646C>T (p.Ser549Leu)
|
rs767886169
|
0.00001
|
NM_003119.4(SPG7):c.376G>C (p.Glu126Gln)
|
rs912983346
|
0.00001
|
NM_004722.4(AP4M1):c.607-2A>G
|
rs755533568
|
0.00001
|
NM_007175.8(ERLIN2):c.899A>T (p.Asp300Val)
|
rs763958615
|
0.00001
|
NM_014363.6(SACS):c.5629C>T (p.Arg1877Ter)
|
rs761089024
|
0.00001
|
NM_015046.7(SETX):c.4711G>A (p.Val1571Met)
|
rs745970760
|
0.00001
|
NM_015346.4(ZFYVE26):c.2183G>A (p.Arg728Gln)
|
rs770927853
|
0.00001
|
NM_015346.4(ZFYVE26):c.6296dup (p.Asn2100fs)
|
rs1555394376
|
0.00001
|
NM_000817.3(GAD1):c.1252G>T (p.Val418Phe)
|
rs143058194
|
|
NM_001003800.2(BICD2):c.761A>G (p.Lys254Arg)
|
rs1367809298
|
|
NM_001122955.4(BSCL2):c.809G>T (p.Arg270Leu)
|
rs763884653
|
|
NM_001244008.2(KIF1A):c.31C>T (p.Arg11Trp)
|
rs548204329
|
|
NM_001253852.3(AP4B1):c.1114+29G>C
|
rs1391634567
|
|
NM_001368809.2(AMPD2):c.488G>C (p.Arg163Pro)
|
rs138175138
|
|
NM_001371279.1(REEP1):c.58G>C (p.Ala20Pro)
|
rs1266102026
|
|
NM_003119.3(SPG7):c.1454_1462delGGCGGGAGA (p.Arg485_Glu487del)
|
rs768823392
|
|
NM_003119.4(SPG7):c.1442C>T (p.Thr481Met)
|
rs376713807
|
|
NM_004820.5(CYP7B1):c.914dup (p.Met305fs)
|
rs1554524697
|
|
NM_004984.4(KIF5A):c.572G>A (p.Arg191His)
|
rs1488871976
|
|
NM_004984.4(KIF5A):c.610C>T (p.Arg204Trp)
|
rs1555177629
|
|
NM_004984.4(KIF5A):c.833C>T (p.Pro278Leu)
|
rs1555177824
|
|
NM_004984.4(KIF5A):c.839G>A (p.Arg280His)
|
rs387907288
|
|
NM_004984.4(KIF5A):c.868G>C (p.Asp290His)
|
rs1555177831
|
|
NM_006517.5(SLC16A2):c.377C>A (p.Ser126Tyr)
|
rs1555979601
|
|
NM_014363.5:c.[1640C>T;1634G>T]
|
|
|
NM_014855.3(AP5Z1):c.1111G>A (p.Ala371Thr)
|
rs376671338
|
|
NM_014855.3(AP5Z1):c.838A>C (p.Thr280Pro)
|
rs554060393
|
|
NM_014946.4(SPAST):c.1133T>A (p.Leu378Gln)
|
rs1553316816
|
|
NM_020944.3(GBA2):c.2618G>A (p.Arg873His)
|
rs398123015
|
|
NM_025137.3(SPG11):c.(2244+1_2245-1)_(2620+1_2621-1)del
|
|
|
NM_025137.4(SPG11):c.2486T>G (p.Val829Gly)
|
rs1555455561
|
|
NM_138368.5(AP5B1):c.1791G>C (p.Gln597His)
|
rs375914619
|
|
NM_138368.5(AP5B1):c.2089T>C (p.Phe697Leu)
|
rs1555023306
|
|
NM_144599.5(NIPA1):c.24GGC[10] (p.Ala15_Ala16dup)
|
rs531550505
|
|
NM_144599.5(NIPA1):c.316G>A (p.Gly106Arg)
|
rs104894490
|
|