NM_004722.4(AP4M1):c.1100G>A (p.Arg367Gln)
|
rs139861201
|
0.00021
|
NM_032756.4(HPDL):c.859T>C (p.Tyr287His)
|
rs777360560
|
0.00010
|
NM_001128126.3(AP4S1):c.289C>T (p.Arg97Ter)
|
rs200440467
|
0.00009
|
NM_001253852.3(AP4B1):c.577G>A (p.Val193Ile)
|
rs376478015
|
0.00009
|
NM_004722.4(AP4M1):c.920G>C (p.Gly307Ala)
|
rs542768500
|
0.00008
|
NM_015346.4(ZFYVE26):c.3139+1G>A
|
rs137907310
|
0.00006
|
NM_032756.4(HPDL):c.1013T>C (p.Leu338Pro)
|
rs145372387
|
0.00005
|
NM_001128126.3(AP4S1):c.138+1G>A
|
rs200033849
|
0.00004
|
NM_001128126.3(AP4S1):c.43C>T (p.Arg15Ter)
|
rs754944359
|
0.00004
|
NM_001253852.3(AP4B1):c.1177C>T (p.Arg393Ter)
|
rs374894037
|
0.00004
|
NM_001253852.3(AP4B1):c.1557T>A (p.Tyr519Ter)
|
rs529495094
|
0.00004
|
NM_004722.4(AP4M1):c.1012C>T (p.Arg338Ter)
|
rs146262009
|
0.00004
|
NM_004722.4(AP4M1):c.680G>A (p.Arg227His)
|
rs371712994
|
0.00004
|
NM_001253852.3(AP4B1):c.304C>T (p.Arg102Ter)
|
rs777248758
|
0.00003
|
NM_004722.4(AP4M1):c.916C>T (p.Arg306Ter)
|
rs369459721
|
0.00003
|
NM_032756.4(HPDL):c.3G>C (p.Met1Ile)
|
rs777607274
|
0.00003
|
NM_032756.4(HPDL):c.847C>T (p.Pro283Ser)
|
rs751574835
|
0.00003
|
NM_001128126.3(AP4S1):c.139-2A>G
|
rs758748011
|
0.00002
|
NM_001128126.3(AP4S1):c.295-3C>A
|
rs185246578
|
0.00002
|
NM_001253852.3(AP4B1):c.1345A>T (p.Arg449Ter)
|
rs142209254
|
0.00002
|
NM_001253852.3(AP4B1):c.617G>A (p.Arg206Gln)
|
rs149705131
|
0.00002
|
NM_007347.5(AP4E1):c.869+1G>A
|
rs868844377
|
0.00002
|
NM_015346.4(ZFYVE26):c.274-2A>G
|
rs769329153
|
0.00002
|
NM_015346.4(ZFYVE26):c.3139+2T>G
|
rs767164213
|
0.00002
|
NM_001128126.3(AP4S1):c.17T>C (p.Leu6Pro)
|
rs1335804396
|
0.00001
|
NM_001128126.3(AP4S1):c.294+1G>T
|
rs886041127
|
0.00001
|
NM_001253852.3(AP4B1):c.1115-2A>G
|
rs1210851910
|
0.00001
|
NM_001253852.3(AP4B1):c.114-2A>G
|
rs879255396
|
0.00001
|
NM_001253852.3(AP4B1):c.1216C>T (p.Arg406Ter)
|
rs776976178
|
0.00001
|
NM_001253852.3(AP4B1):c.409A>G (p.Arg137Gly)
|
rs1041267828
|
0.00001
|
NM_001278116.2(L1CAM):c.925G>A (p.Glu309Lys)
|
rs367665974
|
0.00001
|
NM_001478.5(B4GALNT1):c.383+1G>A
|
rs371013292
|
0.00001
|
NM_004722.4(AP4M1):c.1117C>T (p.Gln373Ter)
|
rs1562912305
|
0.00001
|
NM_004722.4(AP4M1):c.1137+1G>T
|
rs770705832
|
0.00001
|
NM_004722.4(AP4M1):c.577G>A (p.Glu193Lys)
|
rs387906838
|
0.00001
|
NM_004722.4(AP4M1):c.802C>T (p.Arg268Ter)
|
rs780030221
|
0.00001
|
NM_004722.4(AP4M1):c.955T>C (p.Cys319Arg)
|
rs754498075
|
0.00001
|
NM_004984.4(KIF5A):c.802G>A (p.Ala268Thr)
|
rs139015012
|
0.00001
|
NM_014363.6(SACS):c.1607C>T (p.Pro536Leu)
|
rs1440541889
|
0.00001
|
NM_014363.6(SACS):c.623G>T (p.Ser208Ile)
|
rs911764681
|
0.00001
|
NM_014363.6(SACS):c.8104C>T (p.Leu2702Phe)
|
rs1593126754
|
0.00001
|
NM_015346.4(ZFYVE26):c.1017+1G>T
|
rs1224762841
|
0.00001
|
NM_015346.4(ZFYVE26):c.3020-2A>G
|
rs1470672632
|
0.00001
|
NM_015346.4(ZFYVE26):c.5622-2A>G
|
rs1272228031
|
0.00001
|
NM_020944.3(GBA2):c.1582+2T>G
|
rs941656065
|
0.00001
|
NM_024306.5(FA2H):c.691T>C (p.Tyr231His)
|
rs878855081
|
0.00001
|
NM_032756.4(HPDL):c.149G>A (p.Gly50Asp)
|
rs1391712320
|
0.00001
|
NM_032756.4(HPDL):c.503G>A (p.Cys168Tyr)
|
rs1186696459
|
0.00001
|
NM_032756.4(HPDL):c.788C>T (p.Thr263Met)
|
rs116004018
|
0.00001
|
NM_032756.4(HPDL):c.797T>C (p.Ile266Thr)
|
rs769373772
|
0.00001
|
NM_032756.4(HPDL):c.835C>T (p.Gln279Ter)
|
rs774014588
|
0.00001
|
NM_183075.3(CYP2U1):c.343G>A (p.Gly115Ser)
|
rs766889023
|
0.00001
|
NC_000004.11:g.(?_108853015)_(108855427_?)del
|
|
|
NC_000013.11:g.(?_23353775)_(23358491_?)del
|
|
|
NC_000014.8:g.(?_68251766)_(68260966_?)del
|
|
|
NM_001128126.3(AP4S1):c.124C>T (p.Arg42Ter)
|
rs387906970
|
|
NM_001128126.3(AP4S1):c.226-2A>G
|
rs2139067616
|
|
NM_001128126.3(AP4S1):c.229G>T (p.Glu77Ter)
|
rs568176223
|
|
NM_001128126.3(AP4S1):c.239_240insG (p.Ile80fs)
|
rs2139067696
|
|
NM_001128126.3(AP4S1):c.2T>C (p.Met1Thr)
|
rs755820725
|
|
NM_001128126.3(AP4S1):c.49dup (p.Ser17fs)
|
rs2139569112
|
|
NM_001244008.2(KIF1A):c.38G>A (p.Arg13His)
|
rs797045050
|
|
NM_001253852.3(AP4B1):c.114-2A>C
|
rs879255396
|
|
NM_001253852.3(AP4B1):c.1160_1161del (p.Thr387fs)
|
rs587779388
|
|
NM_001253852.3(AP4B1):c.1181_1182del (p.Gln394fs)
|
rs2101015147
|
|
NM_001253852.3(AP4B1):c.1282G>T (p.Glu428Ter)
|
rs1060499756
|
|
NM_001253852.3(AP4B1):c.1328T>C (p.Leu443Pro)
|
rs746890435
|
|
NM_001253852.3(AP4B1):c.1355del (p.Asn452fs)
|
rs2100998416
|
|
NM_001253852.3(AP4B1):c.1496del (p.Leu499fs)
|
rs2100997427
|
|
NM_001253852.3(AP4B1):c.1544del (p.Gly515fs)
|
rs1667419336
|
|
NM_001253852.3(AP4B1):c.1608_1609insCA (p.Lys537fs)
|
rs2100995157
|
|
NM_001253852.3(AP4B1):c.1655del (p.Pro552fs)
|
rs2100994885
|
|
NM_001253852.3(AP4B1):c.1793-1G>A
|
rs2100992189
|
|
NM_001253852.3(AP4B1):c.311_312delinsC (p.Leu104fs)
|
rs797045244
|
|
NM_001253852.3(AP4B1):c.311del (p.Leu104fs)
|
rs2101043631
|
|
NM_001253852.3(AP4B1):c.313del (p.Ala105fs)
|
rs587783179
|
|
NM_001253852.3(AP4B1):c.405_409del (p.Tyr135_Arg137delinsTer)
|
rs1553259463
|
|
NM_001253852.3(AP4B1):c.487_488insTAT (p.Glu163delinsValTer)
|
rs2101035173
|
|
NM_001253852.3(AP4B1):c.530_531insA (p.Asn178fs)
|
rs879255397
|
|
NM_001253852.3(AP4B1):c.664del (p.Leu222fs)
|
rs1571563769
|
|
NM_001253852.3(AP4B1):c.955T>C (p.Phe319Leu)
|
rs1060499771
|
|
NM_001253852.3(AP4B1):c.991C>T (p.Gln331Ter)
|
rs2101024858
|
|
NM_001278116.2(L1CAM):c.1380-2A>T
|
|
|
NM_001278116.2(L1CAM):c.1702_1703+14del
|
rs1603275315
|
|
NM_001278116.2(L1CAM):c.1703+1G>A
|
rs2148496455
|
|
NM_001278116.2(L1CAM):c.1940-1G>A
|
rs2148495739
|
|
NM_001278116.2(L1CAM):c.2137+1G>A
|
rs1557091278
|
|
NM_001278116.2(L1CAM):c.2547+2T>G
|
|
|
NM_001278116.2(L1CAM):c.3046+1G>C
|
rs1557090220
|
|
NM_001278116.2(L1CAM):c.3046+1G>T
|
|
|
NM_001278116.2(L1CAM):c.3167-2A>G
|
|
|
NM_001278116.2(L1CAM):c.401-1G>A
|
rs2064766332
|
|
NM_001278116.2(L1CAM):c.473G>A (p.Cys158Tyr)
|
rs1603276234
|
|
NM_001278116.2(L1CAM):c.476_524-42delinsGAA
|
|
|
NM_001278116.2(L1CAM):c.719C>T (p.Pro240Leu)
|
rs137852526
|
|
NM_001278116.2(L1CAM):c.806+5G>A
|
rs878853979
|
|
NM_001278116.2(L1CAM):c.92-1G>A
|
|
|
NM_001278116.2(L1CAM):c.998C>G (p.Pro333Arg)
|
rs1064793162
|
|
NM_001371279.1(REEP1):c.33-2A>G
|
rs1574077569
|
|
NM_001478.5(B4GALNT1):c.532-2A>G
|
rs1885117995
|
|
NM_001478.5(B4GALNT1):c.712+1G>A
|
|
|
NM_001478.5(B4GALNT1):c.811+38_903del
|
|
|
NM_004187.5(KDM5C):c.1243-2A>G
|
rs1569274606
|
|
NM_004187.5(KDM5C):c.150+1G>A
|
|
|
NM_004187.5(KDM5C):c.1747-2A>T
|
|
|
NM_004187.5(KDM5C):c.1866+1G>A
|
rs2146867849
|
|
NM_004187.5(KDM5C):c.1A>G (p.Met1Val)
|
rs1569285562
|
|
NM_004187.5(KDM5C):c.2248C>T (p.Arg750Trp)
|
rs2146851322
|
|
NM_004187.5(KDM5C):c.2981+1G>A
|
|
|
NM_004187.5(KDM5C):c.781+1G>A
|
|
|
NM_004722.4(AP4M1):c.1026-1G>T
|
rs2116670931
|
|
NM_004722.4(AP4M1):c.1321C>T (p.Arg441Ter)
|
rs886041126
|
|
NM_004722.4(AP4M1):c.194_195del (p.Tyr65fs)
|
rs777377185
|
|
NM_004722.4(AP4M1):c.218dup (p.Asn73fs)
|
rs1321353475
|
|
NM_004722.4(AP4M1):c.330C>G (p.Tyr110Ter)
|
rs752598529
|
|
NM_004722.4(AP4M1):c.521dup (p.Leu175fs)
|
rs2116638409
|
|
NM_004722.4(AP4M1):c.544-8_544-3del
|
rs1064794383
|
|
NM_004722.4(AP4M1):c.694del (p.Glu232fs)
|
rs1584514057
|
|
NM_004722.4(AP4M1):c.694dup (p.Glu232fs)
|
rs1584514057
|
|
NM_004722.4(AP4M1):c.851A>C (p.Tyr284Ser)
|
rs1554380391
|
|
NM_004722.4(AP4M1):c.90del (p.Glu31fs)
|
rs2116616864
|
|
NM_004722.4(AP4M1):c.952C>T (p.Arg318Ter)
|
rs730882249
|
|
NM_004722.4(AP4M1):c.956G>A (p.Cys319Tyr)
|
rs1057521784
|
|
NM_004722.4(AP4M1):c.974+1G>T
|
rs1344550427
|
|
NM_004820.5(CYP7B1):c.1057+1G>A
|
|
|
NM_004820.5(CYP7B1):c.1202A>G (p.His401Arg)
|
rs1467815062
|
|
NM_004820.5(CYP7B1):c.122+1G>C
|
|
|
NM_004820.5(CYP7B1):c.122+1G>T
|
|
|
NM_004820.5(CYP7B1):c.1460dup (p.Leu487fs)
|
rs776075679
|
|
NM_004820.5(CYP7B1):c.260-1G>A
|
rs1385678413
|
|
NM_004820.5(CYP7B1):c.788T>G (p.Val263Gly)
|
|
|
NM_004984.4(KIF5A):c.1905+2_1905+3delinsGC
|
|
|
NM_004984.4(KIF5A):c.2756-2A>G
|
|
|
NM_004984.4(KIF5A):c.3019A>G (p.Arg1007Gly)
|
rs1555179087
|
|
NM_004984.4(KIF5A):c.3020+1G>T
|
rs1555179091
|
|
NM_004984.4(KIF5A):c.3020G>A (p.Arg1007Lys)
|
rs1060502523
|
|
NM_004984.4(KIF5A):c.466G>A (p.Val156Met)
|
|
|
NM_004984.4(KIF5A):c.611G>T (p.Arg204Leu)
|
|
|
NM_004984.4(KIF5A):c.839G>C (p.Arg280Pro)
|
|
|
NM_004984.4(KIF5A):c.969-1G>C
|
rs1882179247
|
|
NM_005619.5(RTN2):c.1380+1G>T
|
rs1968087179
|
|
NM_006517.5(SLC16A2):c.1270G>A (p.Asp424Asn)
|
rs2147871878
|
|
NM_006517.5(SLC16A2):c.576-1G>A
|
rs886042238
|
|
NM_007175.8(ERLIN2):c.187C>A (p.Gln63Lys)
|
rs1802811311
|
|
NM_007175.8(ERLIN2):c.207T>G (p.Asp69Glu)
|
|
|
NM_007175.8(ERLIN2):c.237-2A>G
|
rs751227210
|
|
NM_007175.8(ERLIN2):c.532G>A (p.Ala178Thr)
|
|
|
NM_007347.5(AP4E1):c.1358_1359dup (p.Val454fs)
|
rs2140861869
|
|
NM_007347.5(AP4E1):c.1833del (p.Ser612fs)
|
rs2140878481
|
|
NM_007347.5(AP4E1):c.3277C>T (p.Gln1093Ter)
|
rs773929706
|
|
NM_007347.5(AP4E1):c.3313C>T (p.Arg1105Ter)
|
rs1313275799
|
|
NM_007347.5(AP4E1):c.420+1G>T
|
|
|
NM_007347.5(AP4E1):c.542+5_542+8del
|
rs2141147450
|
|
NM_007347.5(AP4E1):c.652_653del (p.Asp218fs)
|
rs2063801225
|
|
NM_007347.5(AP4E1):c.881_891del (p.Leu294fs)
|
rs2141164712
|
|
NM_007347.5(AP4E1):c.944-1G>C
|
rs1555456727
|
|
NM_014231.5(VAMP1):c.340del (p.Ile114fs)
|
rs746220436
|
|
NM_014363.6(SACS):c.11166_11167del (p.Ser3722fs)
|
rs1883566609
|
|
NM_014363.6(SACS):c.11467C>A (p.Pro3823Thr)
|
rs1883537654
|
|
NM_014363.6(SACS):c.11907_11930delinsA (p.Arg3970fs)
|
rs1593121507
|
|
NM_014363.6(SACS):c.13009C>G (p.His4337Asp)
|
rs1555249362
|
|
NM_014363.6(SACS):c.13283dup (p.Tyr4428Ter)
|
rs1057517123
|
|
NM_014363.6(SACS):c.13352T>C (p.Leu4451Pro)
|
|
|
NM_014363.6(SACS):c.13391A>T (p.Asp4464Val)
|
rs1883393913
|
|
NM_014363.6(SACS):c.171+1_171+18del
|
|
|
NM_014363.6(SACS):c.21-2A>G
|
|
|
NM_014363.6(SACS):c.458-2A>C
|
rs2137743517
|
|
NM_014363.6(SACS):c.4744G>C (p.Asp1582His)
|
|
|
NM_014363.6(SACS):c.4934G>A (p.Arg1645Gln)
|
|
|
NM_014363.6(SACS):c.604+1G>A
|
rs1555254734
|
|
NM_014363.6(SACS):c.6650C>A (p.Pro2217Gln)
|
rs1868700605
|
|
NM_014363.6(SACS):c.7918T>C (p.Ser2640Pro)
|
rs2137596408
|
|
NM_014363.6(SACS):c.9266C>T (p.Pro3089Leu)
|
rs1593125290
|
|
NM_014946.4(SPAST):c.1272G>C (p.Arg424Ser)
|
|
|
NM_015346.4(ZFYVE26):c.1436-1G>A
|
rs545219731
|
|
NM_015346.4(ZFYVE26):c.1639+1G>T
|
|
|
NM_015346.4(ZFYVE26):c.2332+1G>C
|
|
|
NM_015346.4(ZFYVE26):c.2401+2T>C
|
|
|
NM_015346.4(ZFYVE26):c.2553+1G>T
|
|
|
NM_015346.4(ZFYVE26):c.2554-1G>C
|
rs760559263
|
|
NM_015346.4(ZFYVE26):c.2554-2A>G
|
rs1186788102
|
|
NM_015346.4(ZFYVE26):c.2753_2755+5del
|
|
|
NM_015346.4(ZFYVE26):c.2756-1G>A
|
rs2039758874
|
|
NM_015346.4(ZFYVE26):c.3139+1G>T
|
rs137907310
|
|
NM_015346.4(ZFYVE26):c.3523+2T>C
|
|
|
NM_015346.4(ZFYVE26):c.3524-1G>C
|
rs2140225441
|
|
NM_015346.4(ZFYVE26):c.3524-2A>G
|
rs1555397331
|
|
NM_015346.4(ZFYVE26):c.4372+1_4372+3del
|
rs1555396965
|
|
NM_015346.4(ZFYVE26):c.4674+2T>C
|
|
|
NM_015346.4(ZFYVE26):c.4675-2A>G
|
|
|
NM_015346.4(ZFYVE26):c.4797+2T>G
|
rs2140215645
|
|
NM_015346.4(ZFYVE26):c.4798-1G>A
|
rs1555396303
|
|
NM_015346.4(ZFYVE26):c.5222-1G>A
|
rs2039307447
|
|
NM_015346.4(ZFYVE26):c.5485-1del
|
rs878855013
|
|
NM_015346.4(ZFYVE26):c.5654-1G>A
|
|
|
NM_015346.4(ZFYVE26):c.5790+1G>A
|
rs1340106074
|
|
NM_015346.4(ZFYVE26):c.5791-2A>G
|
|
|
NM_015346.4(ZFYVE26):c.6012-1G>A
|
|
|
NM_015346.4(ZFYVE26):c.6159+1G>A
|
rs896655703
|
|
NM_015346.4(ZFYVE26):c.6160-2A>C
|
|
|
NM_015346.4(ZFYVE26):c.6369+1G>A
|
rs1197046699
|
|
NM_015346.4(ZFYVE26):c.6786+1G>T
|
|
|
NM_015346.4(ZFYVE26):c.6987-1G>A
|
rs1555393393
|
|
NM_015346.4(ZFYVE26):c.7188+1G>A
|
rs1555393338
|
|
NM_015346.4(ZFYVE26):c.7188+1G>T
|
rs1555393338
|
|
NM_015346.4(ZFYVE26):c.886+1G>T
|
rs752618765
|
|
NM_015346.4(ZFYVE26):c.887-1G>C
|
|
|
NM_015915.5(ATL1):c.716G>A (p.Arg239His)
|
rs1241621325
|
|
NM_020435.4(GJC2):c.141C>G (p.Tyr47Ter)
|
rs1553262438
|
|
NM_020435.4(GJC2):c.85_86dup (p.Val30fs)
|
rs1558119445
|
|
NM_020944.3(GBA2):c.1129+1G>C
|
rs2131972800
|
|
NM_020944.3(GBA2):c.2636G>A (p.Arg879Gln)
|
rs1588001500
|
|
NM_020944.3(GBA2):c.515G>T (p.Arg172Leu)
|
rs200268523
|
|
NM_024306.5(FA2H):c.340_363+8del
|
rs1597556143
|
|
NM_024306.5(FA2H):c.506+1G>C
|
rs753097023
|
|
NM_024496.4(IRF2BPL):c.346C>T (p.Gln116Ter)
|
|
|
NM_025137.4(SPG11):c.6404del (p.Ile2135fs)
|
rs2140923130
|
|
NM_032756.4(HPDL):c.1072T>G (p.Trp358Gly)
|
rs2149082406
|
|
NM_032756.4(HPDL):c.110G>C (p.Arg37Pro)
|
rs745594303
|
|
NM_032756.4(HPDL):c.232G>A (p.Ala78Thr)
|
rs1360472871
|
|
NM_032756.4(HPDL):c.256del (p.Ala86fs)
|
rs753787033
|
|
NM_032756.4(HPDL):c.27C>A (p.Cys9Ter)
|
rs1373645311
|
|
NM_032756.4(HPDL):c.342_345dup (p.Ala116fs)
|
rs1644248738
|
|
NM_032756.4(HPDL):c.418G>A (p.Gly140Arg)
|
rs758727749
|
|
NM_032756.4(HPDL):c.493A>C (p.Thr165Pro)
|
rs1446895238
|
|
NM_032756.4(HPDL):c.518C>A (p.Ser173Tyr)
|
rs2149081821
|
|
NM_032756.4(HPDL):c.523_529del (p.Thr175fs)
|
rs2149081832
|
|
NM_032756.4(HPDL):c.529_530del (p.Leu177fs)
|
rs1644253428
|
|
NM_032756.4(HPDL):c.569C>T (p.Pro190Leu)
|
rs368625962
|
|
NM_032756.4(HPDL):c.650T>C (p.Leu217Pro)
|
rs1297494568
|
|
NM_032756.4(HPDL):c.679del (p.Thr227fs)
|
rs2149081995
|
|
NM_032756.4(HPDL):c.692C>G (p.Ala231Gly)
|
rs756300449
|
|
NM_032756.4(HPDL):c.769_771delinsTC (p.Gln257fs)
|
rs2149082096
|
|
NM_032756.4(HPDL):c.788C>G (p.Thr263Arg)
|
rs116004018
|
|
NM_032756.4(HPDL):c.816_817del (p.Val273fs)
|
rs2149082140
|
|
NM_032756.4(HPDL):c.995del (p.Thr332fs)
|
rs1167901073
|
|
NM_183075.3(CYP2U1):c.1463G>A (p.Arg488Gln)
|
rs762873672
|
|
NM_183075.3(CYP2U1):c.946G>C (p.Asp316His)
|
rs766970458
|
|
NM_183075.3(CYP2U1):c.947A>T (p.Asp316Val)
|
rs397514513
|
|
Single allele
|
|
|