NM_177924.5(ASAH1):c.737T>C (p.Val246Ala)
|
rs10103355
|
0.87079
|
NM_021076.4(NEFH):c.1844C>T (p.Pro615Leu)
|
rs5763269
|
0.19153
|
NM_001008212.2(OPTN):c.293T>A (p.Met98Lys)
|
rs11258194
|
0.05969
|
NM_005235.3(ERBB4):c.2202+15A>G
|
rs77836647
|
0.02566
|
NM_021625.5(TRPV4):c.854-5C>T
|
rs116401333
|
0.02337
|
NM_001376.5(DYNC1H1):c.3993C>T (p.Gly1331=)
|
rs17540957
|
0.01643
|
NM_004082.5(DCTN1):c.34-11G>T
|
rs73948789
|
0.01216
|
NM_001376.5(DYNC1H1):c.7137G>A (p.Leu2379=)
|
rs17512439
|
0.00956
|
NM_025137.4(SPG11):c.6319G>A (p.Val2107Ile)
|
rs115970214
|
0.00950
|
NM_006262.4(PRPH):c.26G>A (p.Arg9Gln)
|
rs57451017
|
0.00901
|
NM_014845.6(FIG4):c.1242T>C (p.Ile414=)
|
rs61729087
|
0.00891
|
NM_005866.4(SIGMAR1):c.622C>T (p.Arg208Trp)
|
rs11559048
|
0.00864
|
NM_000052.7(ATP7A):c.565A>G (p.Ile189Val)
|
rs2228447
|
0.00731
|
NM_001122955.4(BSCL2):c.1234+20G>A
|
rs113229350
|
0.00638
|
NM_014845.6(FIG4):c.447-16G>T
|
rs200890189
|
0.00618
|
NM_015046.7(SETX):c.59G>A (p.Arg20His)
|
rs79740039
|
0.00602
|
NM_021625.5(TRPV4):c.1153-10C>T
|
rs149541389
|
0.00547
|
NM_014365.3(HSPB8):c.535G>C (p.Glu179Gln)
|
rs74740454
|
0.00531
|
NM_020631.6(PLEKHG5):c.-88+6328C>T
|
rs147378306
|
0.00522
|
NM_000052.7(ATP7A):c.4201G>C (p.Val1401Leu)
|
rs5959130
|
0.00500
|
NM_015046.7(SETX):c.4755T>G (p.Pro1585=)
|
rs151237267
|
0.00484
|
NM_001003800.2(BICD2):c.2258+15G>C
|
rs140501870
|
0.00450
|
NM_002180.3(IGHMBP2):c.1770T>C (p.Phe590=)
|
rs138997061
|
0.00398
|
NM_014845.6(FIG4):c.27C>T (p.Ile9=)
|
rs141040807
|
0.00398
|
NM_002180.3(IGHMBP2):c.1294G>A (p.Ala432Thr)
|
rs116012780
|
0.00392
|
NM_003900.5(SQSTM1):c.984G>A (p.Ser328=)
|
rs146164139
|
0.00374
|
NM_003334.4(UBA1):c.1702C>G (p.Leu568Val)
|
rs150574055
|
0.00347
|
NM_020919.4(ALS2):c.475G>A (p.Glu159Lys)
|
rs3219155
|
0.00334
|
NM_013444.4(UBQLN2):c.1383G>A (p.Gly461=)
|
rs142250604
|
0.00313
|
NM_001122955.4(BSCL2):c.1280T>C (p.Leu427Pro)
|
rs145649423
|
0.00301
|
NM_001376.5(DYNC1H1):c.11942C>G (p.Thr3981Arg)
|
rs138428684
|
0.00288
|
NM_020919.4(ALS2):c.2842-20C>T
|
rs189282198
|
0.00288
|
NM_001145809.2(MYH14):c.1329+15C>T
|
rs200176028
|
0.00227
|
NM_004082.5(DCTN1):c.2761-18C>T
|
rs549475401
|
0.00209
|
NM_001376.5(DYNC1H1):c.10414-13G>A
|
rs17541421
|
0.00190
|
NM_001376.5(DYNC1H1):c.12513+10T>G
|
rs17512839
|
0.00183
|
NM_001376.5(DYNC1H1):c.7239G>T (p.Leu2413=)
|
rs138407720
|
0.00175
|
NM_001145809.2(MYH14):c.563-17C>A
|
rs201570558
|
0.00116
|
NM_207346.3(TSEN54):c.83C>T (p.Ser28Leu)
|
rs201089582
|
0.00116
|
NM_020919.4(ALS2):c.1115C>G (p.Pro372Arg)
|
rs190369242
|
0.00100
|
NM_001376.5(DYNC1H1):c.5295A>G (p.Ala1765=)
|
rs139919955
|
0.00096
|
NM_016042.4(EXOSC3):c.238G>T (p.Val80Phe)
|
rs374550999
|
0.00093
|
NM_207346.3(TSEN54):c.919G>T (p.Ala307Ser)
|
rs113994152
|
0.00092
|
NM_001376.5(DYNC1H1):c.10065T>C (p.Ser3355=)
|
rs80096622
|
0.00087
|
NM_177924.5(ASAH1):c.*103G>A
|
rs181616268
|
0.00086
|
NM_015046.7(SETX):c.4982C>G (p.Pro1661Arg)
|
rs146873848
|
0.00080
|
NM_014365.3(HSPB8):c.499G>A (p.Glu167Lys)
|
rs148514935
|
0.00072
|
NM_000052.7(ATP7A):c.4390A>G (p.Ile1464Val)
|
rs2234938
|
0.00066
|
NM_001376.5(DYNC1H1):c.8784A>G (p.Gln2928=)
|
rs149753029
|
0.00056
|
NM_003900.5(SQSTM1):c.1176G>A (p.Pro392=)
|
rs75700262
|
0.00052
|
NM_001077446.4(TSEN34):c.392C>T (p.Ser131Leu)
|
rs202245444
|
0.00050
|
NM_016042.4(EXOSC3):c.395A>C (p.Asp132Ala)
|
rs141138948
|
0.00048
|
NM_004082.5(DCTN1):c.279+8C>T
|
rs376401397
|
0.00046
|
NM_205836.3(FBXO38):c.931C>A (p.Leu311Ile)
|
rs142117467
|
0.00044
|
NM_207346.3(TSEN54):c.1313G>A (p.Arg438Gln)
|
rs200228117
|
0.00041
|
NM_015046.7(SETX):c.3826C>G (p.Gln1276Glu)
|
rs148604312
|
0.00039
|
NM_015046.7(SETX):c.654G>C (p.Lys218Asn)
|
rs117861188
|
0.00039
|
NM_015046.7(SETX):c.7432A>G (p.Thr2478Ala)
|
rs142303658
|
0.00038
|
NM_025265.4(TSEN2):c.1013C>G (p.Thr338Arg)
|
rs145142315
|
0.00038
|
NM_207346.3(TSEN54):c.1136G>A (p.Arg379Gln)
|
rs201948434
|
0.00038
|
NM_025265.4(TSEN2):c.322G>T (p.Val108Phe)
|
rs202097247
|
0.00037
|
NM_177924.5(ASAH1):c.1041+19C>A
|
rs17126194
|
0.00037
|
NM_004960.4(FUS):c.336-19_336-18insG
|
rs146048051
|
0.00036
|
NM_015046.7(SETX):c.4433C>A (p.Ala1478Glu)
|
rs143661911
|
0.00034
|
NM_003384.3(VRK1):c.901A>G (p.Lys301Glu)
|
rs149661915
|
0.00031
|
NM_177924.5(ASAH1):c.376C>A (p.Pro126Thr)
|
rs199785411
|
0.00030
|
NM_004082.5(DCTN1):c.2805C>G (p.Ile935Met)
|
rs145130328
|
0.00029
|
NM_025137.4(SPG11):c.6625C>T (p.Arg2209Cys)
|
rs374057859
|
0.00027
|
NM_020631.6(PLEKHG5):c.440-2A>G
|
rs144750655
|
0.00026
|
NM_001122955.4(BSCL2):c.624G>A (p.Ser208=)
|
rs138532996
|
0.00024
|
NM_177924.5(ASAH1):c.1144G>A (p.Glu382Lys)
|
rs148976489
|
0.00024
|
NM_001122955.4(BSCL2):c.299G>T (p.Cys100Phe)
|
rs147314661
|
0.00023
|
NM_014845.6(FIG4):c.737G>A (p.Trp246Ter)
|
rs776005417
|
0.00022
|
NM_177924.5(ASAH1):c.308G>C (p.Gly103Ala)
|
rs144169068
|
0.00022
|
NM_001376.5(DYNC1H1):c.7463G>A (p.Arg2488His)
|
rs149581331
|
0.00019
|
NM_004082.5(DCTN1):c.3127C>T (p.Arg1043Cys)
|
rs140066692
|
0.00019
|
NM_177924.5(ASAH1):c.718A>C (p.Ile240Leu)
|
rs374187681
|
0.00019
|
NM_004082.5(DCTN1):c.3029+19G>A
|
rs201665169
|
0.00018
|
NM_021815.5(SLC5A7):c.1306G>A (p.Val436Met)
|
rs148535388
|
0.00017
|
NM_004960.4(FUS):c.1292C>T (p.Pro431Leu)
|
rs186547381
|
0.00016
|
NM_025137.4(SPG11):c.5969A>G (p.Tyr1990Cys)
|
rs199920965
|
0.00016
|
NM_021625.5(TRPV4):c.1976C>T (p.Ser659Leu)
|
rs779715512
|
0.00015
|
NM_207346.3(TSEN54):c.622C>T (p.Arg208Trp)
|
rs147165460
|
0.00015
|
NM_001122955.4(BSCL2):c.133G>A (p.Gly45Ser)
|
rs3763853
|
0.00014
|
NM_207346.3(TSEN54):c.946C>T (p.Arg316Cys)
|
rs377207901
|
0.00014
|
NM_004082.5(DCTN1):c.3345+13C>T
|
rs376707439
|
0.00013
|
NM_000052.7(ATP7A):c.2530C>T (p.Arg844Cys)
|
rs374162669
|
0.00012
|
NM_001145809.2(MYH14):c.1301A>G (p.Tyr434Cys)
|
rs556541366
|
0.00012
|
NM_001145809.2(MYH14):c.3304C>T (p.Arg1102Trp)
|
rs397516629
|
0.00011
|
NM_004082.5(DCTN1):c.3334A>G (p.Ser1112Gly)
|
rs187434401
|
0.00011
|
NM_025265.4(TSEN2):c.653C>T (p.Pro218Leu)
|
rs201214741
|
0.00011
|
NM_177924.5(ASAH1):c.-219A>T
|
rs539981182
|
0.00011
|
NM_001145809.2(MYH14):c.3821G>A (p.Arg1274Gln)
|
rs763472009
|
0.00010
|
NM_004082.5(DCTN1):c.2353C>T (p.Arg785Trp)
|
rs121909344
|
0.00010
|
NM_001003800.2(BICD2):c.1401C>T (p.His467=)
|
rs144442734
|
0.00009
|
NM_001376.5(DYNC1H1):c.256+4C>T
|
rs546058194
|
0.00009
|
NM_002180.3(IGHMBP2):c.1295C>T (p.Ala432Val)
|
rs370414354
|
0.00009
|
NM_014365.3(HSPB8):c.14A>G (p.Gln5Arg)
|
rs146900850
|
0.00009
|
NM_021815.5(SLC5A7):c.1643G>A (p.Arg548Gln)
|
rs199864231
|
0.00009
|
NM_025137.4(SPG11):c.3320G>C (p.Cys1107Ser)
|
rs201271196
|
0.00009
|
NM_001122955.4(BSCL2):c.1202G>A (p.Gly401Glu)
|
rs767463971
|
0.00008
|
NM_001122955.4(BSCL2):c.88-19C>T
|
rs760935362
|
0.00008
|
NM_002180.3(IGHMBP2):c.1082T>C (p.Leu361Pro)
|
rs201060167
|
0.00008
|
NM_004082.5(DCTN1):c.100G>C (p.Glu34Gln)
|
rs151052060
|
0.00008
|
NM_000344.4(SMN1):c.865T>A (p.Cys289Ser)
|
rs187925143
|
0.00007
|
NM_004082.5(DCTN1):c.460C>T (p.Arg154Cys)
|
rs141670992
|
0.00007
|
NM_015046.7(SETX):c.5536C>T (p.Arg1846Cys)
|
rs551406712
|
0.00007
|
NM_001122955.4(BSCL2):c.1147G>A (p.Gly383Arg)
|
rs772516974
|
0.00006
|
NM_002180.3(IGHMBP2):c.1018G>A (p.Glu340Lys)
|
rs750580259
|
0.00006
|
NM_003384.3(VRK1):c.1072C>T (p.Arg358Ter)
|
rs137853063
|
0.00006
|
NM_004082.5(DCTN1):c.1470C>T (p.Asp490=)
|
rs199751168
|
0.00006
|
NM_004082.5(DCTN1):c.3557T>C (p.Met1186Thr)
|
rs145819459
|
0.00006
|
NM_015046.7(SETX):c.3016G>A (p.Gly1006Arg)
|
rs141266068
|
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_015046.7(SETX):c.4865C>T (p.Pro1622Leu)
|
rs140781535
|
0.00005
|
NM_016955.4(SEPSECS):c.811C>T (p.Arg271Ter)
|
rs745870736
|
0.00005
|
NM_021625.5(TRPV4):c.202C>T (p.Arg68Cys)
|
rs199624080
|
0.00005
|
NM_025137.4(SPG11):c.1085G>A (p.Trp362Ter)
|
rs140385286
|
0.00005
|
NM_025137.4(SPG11):c.3425C>G (p.Ser1142Cys)
|
rs201082396
|
0.00005
|
NM_025137.4(SPG11):c.5471G>A (p.Arg1824Gln)
|
rs752401008
|
0.00005
|
NM_025137.4(SPG11):c.733_734del (p.Met245fs)
|
rs312262720
|
0.00005
|
NM_025265.4(TSEN2):c.389A>C (p.Lys130Thr)
|
rs142211875
|
0.00005
|
NM_000454.5(SOD1):c.14C>T (p.Ala5Val)
|
rs121912442
|
0.00004
|
NM_001122955.4(BSCL2):c.1145C>T (p.Ser382Leu)
|
rs149907021
|
0.00004
|
NM_001122955.4(BSCL2):c.1282C>T (p.Pro428Ser)
|
rs369732238
|
0.00004
|
NM_001122955.4(BSCL2):c.359A>G (p.Tyr120Cys)
|
rs370905417
|
0.00004
|
NM_001122955.4(BSCL2):c.934G>A (p.Val312Ile)
|
rs754683462
|
0.00004
|
NM_015046.7(SETX):c.4828C>T (p.Leu1610Phe)
|
rs749891883
|
0.00004
|
NM_021625.5(TRPV4):c.190C>T (p.Arg64Ter)
|
rs372452565
|
0.00004
|
NM_025137.4(SPG11):c.1348dup (p.Ile450fs)
|
rs312262725
|
0.00004
|
NM_025137.4(SPG11):c.6043G>A (p.Asp2015Asn)
|
rs771242219
|
0.00004
|
NM_000052.7(ATP7A):c.2111A>G (p.Gln704Arg)
|
rs782577253
|
0.00003
|
NM_001122955.4(BSCL2):c.1168G>A (p.Glu390Lys)
|
rs141518903
|
0.00003
|
NM_001122955.4(BSCL2):c.1235-6G>A
|
rs762484263
|
0.00003
|
NM_001122955.4(BSCL2):c.443T>C (p.Phe148Ser)
|
rs751277966
|
0.00003
|
NM_001122955.4(BSCL2):c.773C>T (p.Pro258Leu)
|
rs769219167
|
0.00003
|
NM_001145809.2(MYH14):c.1631C>T (p.Pro544Leu)
|
rs371300947
|
0.00003
|
NM_001145809.2(MYH14):c.3913C>T (p.Arg1305Cys)
|
rs755704452
|
0.00003
|
NM_002047.4(GARS1):c.262C>G (p.Gln88Glu)
|
rs201728920
|
0.00003
|
NM_002180.3(IGHMBP2):c.808C>T (p.Arg270Cys)
|
rs201054207
|
0.00003
|
NM_003384.3(VRK1):c.356A>G (p.His119Arg)
|
rs371295780
|
0.00003
|
NM_004082.5(DCTN1):c.414+1G>A
|
rs576198476
|
0.00003
|
NM_013254.4(TBK1):c.1839G>T (p.Leu613Phe)
|
rs368859659
|
0.00003
|
NM_014845.6(FIG4):c.2360G>A (p.Ser787Asn)
|
rs377017892
|
0.00003
|
NM_016042.4(EXOSC3):c.37G>C (p.Ala13Pro)
|
rs758230758
|
0.00003
|
NM_018325.5(C9orf72):c.1285T>C (p.Ser429Pro)
|
rs200703028
|
0.00003
|
NM_025137.4(SPG11):c.2003A>G (p.Tyr668Cys)
|
rs764762491
|
0.00003
|
NM_025137.4(SPG11):c.2377G>A (p.Val793Met)
|
rs546601155
|
0.00003
|
NM_207346.3(TSEN54):c.1039A>T (p.Lys347Ter)
|
rs143604970
|
0.00003
|
NM_000052.7(ATP7A):c.3522T>C (p.Asn1174=)
|
rs1179465472
|
0.00002
|
NM_000052.7(ATP7A):c.4356G>C (p.Leu1452Phe)
|
rs782364202
|
0.00002
|
NM_001122955.4(BSCL2):c.1034G>A (p.Arg345Gln)
|
rs202072835
|
0.00002
|
NM_001122955.4(BSCL2):c.199A>C (p.Asn67His)
|
rs1057524897
|
0.00002
|
NM_001122955.4(BSCL2):c.62A>T (p.Gln21Leu)
|
rs1006065298
|
0.00002
|
NM_001122955.4(BSCL2):c.986G>A (p.Arg329Gln)
|
rs771322168
|
0.00002
|
NM_001376.5(DYNC1H1):c.4597C>G (p.Leu1533Val)
|
rs775825001
|
0.00002
|
NM_002180.3(IGHMBP2):c.1156T>C (p.Trp386Arg)
|
rs759641927
|
0.00002
|
NM_004082.5(DCTN1):c.2244C>G (p.Asp748Glu)
|
rs751069902
|
0.00002
|
NM_007126.5(VCP):c.572G>A (p.Arg191Gln)
|
rs121909334
|
0.00002
|
NM_016042.4(EXOSC3):c.92G>C (p.Gly31Ala)
|
rs387907196
|
0.00002
|
NM_016955.4(SEPSECS):c.1390G>T (p.Glu464Ter)
|
rs747732980
|
0.00002
|
NM_016955.4(SEPSECS):c.389-1G>A
|
rs754373273
|
0.00002
|
NM_020631.6(PLEKHG5):c.895T>G (p.Trp299Gly)
|
rs112657733
|
0.00002
|
NM_020919.4(ALS2):c.3134A>T (p.Lys1045Met)
|
rs781051642
|
0.00002
|
NM_020919.4(ALS2):c.3415C>T (p.Arg1139Ter)
|
rs767350733
|
0.00002
|
NM_021625.5(TRPV4):c.1376T>G (p.Leu459Arg)
|
rs201132615
|
0.00002
|
NM_025137.4(SPG11):c.5623C>T (p.Gln1875Ter)
|
rs141848292
|
0.00002
|
NM_177924.5(ASAH1):c.784A>T (p.Ser262Cys)
|
rs781103974
|
0.00002
|
NM_000052.7(ATP7A):c.1558C>T (p.Leu520Phe)
|
rs1331470313
|
0.00001
|
NM_000052.7(ATP7A):c.3070A>G (p.Ile1024Val)
|
rs1341604631
|
0.00001
|
NM_000052.7(ATP7A):c.368G>A (p.Arg123Lys)
|
rs782664232
|
0.00001
|
NM_001122955.4(BSCL2):c.1022G>A (p.Arg341Lys)
|
rs144725547
|
0.00001
|
NM_001122955.4(BSCL2):c.1069C>T (p.Pro357Ser)
|
rs781022347
|
0.00001
|
NM_001122955.4(BSCL2):c.1071A>G (p.Pro357=)
|
rs113336810
|
0.00001
|
NM_001122955.4(BSCL2):c.1160A>G (p.Gln387Arg)
|
rs779682500
|
0.00001
|
NM_001122955.4(BSCL2):c.1264C>G (p.Leu422Val)
|
rs772442281
|
0.00001
|
NM_001122955.4(BSCL2):c.1269G>A (p.Thr423=)
|
rs748736063
|
0.00001
|
NM_001122955.4(BSCL2):c.1298C>T (p.Ala433Val)
|
rs141657385
|
0.00001
|
NM_001122955.4(BSCL2):c.257G>A (p.Gly86Asp)
|
rs772832629
|
0.00001
|
NM_001122955.4(BSCL2):c.517dup (p.Thr173fs)
|
rs786205071
|
0.00001
|
NM_001122955.4(BSCL2):c.933C>T (p.Ser311=)
|
rs748195771
|
0.00001
|
NM_001145809.2(MYH14):c.3141C>T (p.Leu1047=)
|
rs886054592
|
0.00001
|
NM_001145809.2(MYH14):c.5875C>T (p.Arg1959Trp)
|
rs758424787
|
0.00001
|
NM_001376.5(DYNC1H1):c.12180C>T (p.Ala4060=)
|
rs754694929
|
0.00001
|
NM_001376.5(DYNC1H1):c.13414G>A (p.Gly4472Ser)
|
rs199692678
|
0.00001
|
NM_001376.5(DYNC1H1):c.9193G>A (p.Val3065Met)
|
rs377668381
|
0.00001
|
NM_001540.5(HSPB1):c.142G>A (p.Gly48Ser)
|
rs546699221
|
0.00001
|
NM_002180.3(IGHMBP2):c.1106T>A (p.Phe369Tyr)
|
rs756791529
|
0.00001
|
NM_003334.4(UBA1):c.521G>A (p.Arg174Gln)
|
rs1556787651
|
0.00001
|
NM_003384.3(VRK1):c.721C>T (p.Arg241Cys)
|
rs141703130
|
0.00001
|
NM_004082.5(DCTN1):c.1837C>T (p.Pro613Ser)
|
rs372808221
|
0.00001
|
NM_004082.5(DCTN1):c.2545G>A (p.Ala849Thr)
|
rs769512188
|
0.00001
|
NM_004082.5(DCTN1):c.2686C>G (p.Leu896Val)
|
rs545910781
|
0.00001
|
NM_004082.5(DCTN1):c.43G>A (p.Gly15Ser)
|
rs72466482
|
0.00001
|
NM_013254.4(TBK1):c.1150C>T (p.Arg384Trp)
|
rs753595352
|
0.00001
|
NM_014845.6(FIG4):c.2444T>C (p.Phe815Ser)
|
rs375414729
|
0.00001
|
NM_015046.7(SETX):c.1989_1994del (p.Ile664_Glu665del)
|
rs773195802
|
0.00001
|
NM_015046.7(SETX):c.71A>G (p.Asn24Ser)
|
rs981346599
|
0.00001
|
NM_016955.4(SEPSECS):c.715G>A (p.Ala239Thr)
|
rs267607035
|
0.00001
|
NM_021625.5(TRPV4):c.184G>A (p.Asp62Asn)
|
rs770149544
|
0.00001
|
NM_021625.5(TRPV4):c.2425G>A (p.Gly809Ser)
|
rs375851168
|
0.00001
|
NM_021625.5(TRPV4):c.2471C>T (p.Ser824Leu)
|
rs764622721
|
0.00001
|
NM_021815.5(SLC5A7):c.665C>T (p.Ala222Val)
|
rs1351029450
|
0.00001
|
NM_025137.4(SPG11):c.3663C>A (p.Ile1221=)
|
rs1388337783
|
0.00001
|
NM_025137.4(SPG11):c.3687_3688insC (p.Ile1230fs)
|
rs1459810136
|
0.00001
|
NM_025137.4(SPG11):c.4702G>A (p.Ala1568Thr)
|
rs767343843
|
0.00001
|
NM_025137.4(SPG11):c.5986dup (p.Cys1996fs)
|
rs312262775
|
0.00001
|
NM_025137.4(SPG11):c.6458G>T (p.Ser2153Ile)
|
rs543344637
|
0.00001
|
NM_025137.4(SPG11):c.7326del (p.Gly2443fs)
|
rs751228307
|
0.00001
|
NM_025265.4(TSEN2):c.431A>G (p.Asn144Ser)
|
rs778603443
|
0.00001
|
NM_177924.5(ASAH1):c.1169A>G (p.Asp390Gly)
|
rs373012279
|
0.00001
|
NM_177924.5(ASAH1):c.186G>A (p.Trp62Ter)
|
rs769683272
|
0.00001
|
NM_177924.5(ASAH1):c.410A>G (p.Tyr137Cys)
|
rs371666412
|
0.00001
|
NM_207346.3(TSEN54):c.1186C>T (p.Arg396Trp)
|
rs542013784
|
0.00001
|
NM_207346.3(TSEN54):c.670_671del (p.Lys224fs)
|
rs762142684
|
0.00001
|
NM_000454.5(SOD1):c.124G>A (p.Gly42Ser)
|
rs121912433
|
|
NM_000454.5(SOD1):c.434T>C (p.Leu145Ser)
|
rs121912446
|
|
NM_001003800.2(BICD2):c.871G>A (p.Glu291Lys)
|
rs1271142551
|
|
NM_001008212.2(OPTN):c.402C>A (p.Ala134=)
|
rs113955718
|
|
NM_001122955.4(BSCL2):c.1097C>G (p.Thr366Ser)
|
rs1424325463
|
|
NM_001122955.4(BSCL2):c.1244C>T (p.Ser415Phe)
|
rs1590868109
|
|
NM_001122955.4(BSCL2):c.1299TTCTGC[1] (p.434SA[1])
|
rs747175358
|
|
NM_001122955.4(BSCL2):c.1299TTCTGC[3] (p.434SA[3])
|
rs747175358
|
|
NM_001122955.4(BSCL2):c.1300T>G (p.Ser434Ala)
|
rs199584887
|
|
NM_001122955.4(BSCL2):c.1385C>A (p.Ser462Tyr)
|
rs1945271930
|
|
NM_001122955.4(BSCL2):c.367A>T (p.Thr123Ser)
|
rs1349958377
|
|
NM_001122955.4(BSCL2):c.405-21TCC[2]
|
rs768556778
|
|
NM_001122955.4(BSCL2):c.487-20A>T
|
rs115756273
|
|
NM_001122955.4(BSCL2):c.630G>A (p.Ser210=)
|
rs150158560
|
|
NM_001122955.4(BSCL2):c.806A>G (p.Lys269Arg)
|
rs781217574
|
|
NM_001122955.4(BSCL2):c.968G>T (p.Trp323Leu)
|
rs367783346
|
|
NM_001122955.4(BSCL2):c.974dup (p.Ile326fs)
|
rs749890533
|
|
NM_001145809.2(MYH14):c.5384G>A (p.Arg1795His)
|
rs567922009
|
|
NM_001376.5(DYNC1H1):c.10354G>A (p.Ala3452Thr)
|
rs1555411400
|
|
NM_001376.5(DYNC1H1):c.1085C>T (p.Thr362Ile)
|
rs1818621543
|
|
NM_001376.5(DYNC1H1):c.11543G>A (p.Gly3848Asp)
|
rs754712755
|
|
NM_001376.5(DYNC1H1):c.13515+19dup
|
rs774180410
|
|
NM_001376.5(DYNC1H1):c.1792C>T (p.Arg598Cys)
|
rs587780564
|
|
NM_001376.5(DYNC1H1):c.3015+18C>G
|
rs2749894
|
|
NM_001376.5(DYNC1H1):c.3803C>T (p.Thr1268Met)
|
rs751865408
|
|
NM_001376.5(DYNC1H1):c.5165C>T (p.Thr1722Met)
|
rs1555409563
|
|
NM_001376.5(DYNC1H1):c.5347A>G (p.Ser1783Gly)
|
rs773630385
|
|
NM_001376.5(DYNC1H1):c.5885G>A (p.Arg1962His)
|
rs1057518287
|
|
NM_001376.5(DYNC1H1):c.9607G>A (p.Val3203Met)
|
rs1567017825
|
|
NM_001376.5(DYNC1H1):c.9642+4C>T
|
rs773101138
|
|
NM_001378743.1(CYLD):c.2806C>T (p.Arg936Ter)
|
rs121908390
|
|
NM_001540.5(HSPB1):c.610G>A (p.Ala204Thr)
|
rs367857772
|
|
NM_002047.4(GARS1):c.1186G>A (p.Val396Ile)
|
rs1060502836
|
|
NM_003334.4(UBA1):c.804A>T (p.Lys268Asn)
|
rs781996319
|
|
NM_003384.3(VRK1):c.1058_1060del (p.Thr353del)
|
rs794727029
|
|
NM_003384.3(VRK1):c.637T>C (p.Tyr213His)
|
rs1595676477
|
|
NM_003384.3(VRK1):c.769G>A (p.Gly257Ser)
|
rs1064797191
|
|
NM_004082.5(DCTN1):c.1504C>T (p.Arg502Cys)
|
rs145958900
|
|
NM_004082.5(DCTN1):c.3537G>C (p.Lys1179Asn)
|
rs148146325
|
|
NM_004960.4(FUS):c.518_523del
|
|
|
NM_004960.4(FUS):c.524-13dup
|
rs755045476
|
|
NM_005235.3(ERBB4):c.1947-28dup
|
rs57466272
|
|
NM_006736.6(DNAJB2):c.199C>A (p.Arg67Ser)
|
rs140172586
|
|
NM_013254.4(TBK1):c.541-9del
|
rs369498196
|
|
NM_013254.4(TBK1):c.541-9dup
|
rs369498196
|
|
NM_014845.6(FIG4):c.447-16delinsTT
|
rs1776038653
|
|
NM_014845.6(FIG4):c.447-17dup
|
rs764540259
|
|
NM_016042.4(EXOSC3):c.428_431del (p.Tyr143fs)
|
rs1296865764
|
|
NM_016042.4(EXOSC3):c.52_53delinsTC (p.Arg18Ser)
|
|
|
NM_016042.4(EXOSC3):c.619_622dup (p.Arg208delinsAsnTer)
|
rs1160669103
|
|
NM_016955.4(SEPSECS):c.1001A>G (p.Tyr334Cys)
|
rs267607036
|
|
NM_016955.4(SEPSECS):c.1222C>T (p.Leu408Phe)
|
rs752082832
|
|
NM_016955.4(SEPSECS):c.289C>T (p.Arg97Ter)
|
rs1309003036
|
|
NM_016955.4(SEPSECS):c.467G>A (p.Arg156Gln)
|
rs776438003
|
|
NM_016955.5(SEPSECS):c.808dup
|
rs776969714
|
|
NM_020919.4(ALS2):c.1233T>G (p.Tyr411Ter)
|
rs369577952
|
|
NM_020919.4(ALS2):c.2170+19T>C
|
rs2106050526
|
|
NM_020919.4(ALS2):c.4261C>T (p.Arg1421Ter)
|
rs863225293
|
|
NM_021625.5(TRPV4):c.569C>T (p.Thr190Met)
|
rs1031096826
|
|
NM_021625.5(TRPV4):c.806G>A (p.Arg269His)
|
rs267607144
|
|
NM_025137.4(SPG11):c.1347_1348inv (p.Ile450Val)
|
|
|
NM_025137.4(SPG11):c.2445-32dup
|
rs374899647
|
|
NM_025137.4(SPG11):c.4462_4463del (p.Val1488fs)
|
rs587777921
|
|
NM_025137.4(SPG11):c.4804G>A (p.Val1602Met)
|
rs754536969
|
|
NM_025137.4(SPG11):c.5866_5866+4del
|
rs771346977
|
|
NM_025137.4(SPG11):c.6737_6740del (p.Ile2246fs)
|
rs312262781
|
|
NM_025137.4(SPG11):c.6739_6742del (p.Glu2247fs)
|
rs312262782
|
|
NM_025137.4(SPG11):c.6754+2_6754+3dup
|
rs759090170
|
|
NM_031157.4(HNRNPA1):c.491-3dup
|
rs202119045
|
|
NM_177924.5(ASAH1):c.3G>T (p.Met1Ile)
|
rs966267709
|
|
NM_177924.5(ASAH1):c.667C>T (p.Leu223=)
|
rs371332103
|
|
NM_177924.5(ASAH1):c.88G>T (p.Asp30Tyr)
|
rs200758704
|
|
NM_181503.3(EXOSC8):c.55-10_55-9del
|
rs144158336
|
|
NM_207346.3(TSEN54):c.1039_1041delinsTAC (p.Lys347Tyr)
|
rs1568003520
|
|