|
NM_014846.4(WASHC5):c.2770+18_2770+19insG
|
rs11370883
|
0.99994
|
|
NM_144599.5(NIPA1):c.*1981A>G
|
rs6606822
|
0.99970
|
|
NM_015087.5(SPART):c.*624A>G
|
rs2148049
|
0.98868
|
|
NM_014363.6(SACS):c.10338G>A (p.Gln3446=)
|
rs2737701
|
0.98600
|
|
NM_012073.5(CCT5):c.994-130C>T
|
rs2607327
|
0.98303
|
|
NM_020738.4(KIDINS220):c.2849-25T>A
|
rs12476359
|
0.97631
|
|
NM_001318734.2(KLC2):c.942+27T>C
|
rs525698
|
0.97319
|
|
NM_015346.4(ZFYVE26):c.*1409C>T
|
rs10288
|
0.94789
|
|
NM_015346.4(ZFYVE26):c.*1582G>A
|
rs8017209
|
0.94782
|
|
NM_015346.4(ZFYVE26):c.5672A>G (p.Asn1891Ser)
|
rs3742883
|
0.93729
|
|
NM_014844.5(TECPR2):c.958G>A (p.Val320Ile)
|
rs1309353
|
0.93726
|
|
NM_144599.5(NIPA1):c.*1974C>A
|
rs6606823
|
0.93707
|
|
NM_015375.3(DSTYK):c.1921T>C (p.Cys641Arg)
|
rs3851294
|
0.93525
|
|
NM_012073.5(CCT5):c.*1172G>T
|
rs2578638
|
0.93037
|
|
NM_012073.5(CCT5):c.1498+28del
|
rs147103051
|
0.91564
|
|
NM_001128126.3(AP4S1):c.295-34T>G
|
rs11621299
|
0.88578
|
|
NM_022089.4(ATP13A2):c.1195+66A>G
|
rs9435736
|
0.80687
|
|
NM_001385875.1(ZFYVE27):c.*248T>C
|
rs3814559
|
0.80267
|
|
NM_007347.5(AP4E1):c.1967-91A>G
|
rs2306335
|
0.79763
|
|
NM_015915.5(ATL1):c.351G>A (p.Glu117=)
|
rs1060197
|
0.79691
|
|
NM_001385875.1(ZFYVE27):c.*367G>A
|
rs3814560
|
0.79317
|
|
NM_001166114.2(PNPLA6):c.2465+41C>G
|
rs534464
|
0.79112
|
|
NM_024306.5(FA2H):c.879C>T (p.Pro293=)
|
rs2301865
|
0.77852
|
|
NM_001166114.2(PNPLA6):c.2634+39T>C
|
rs599330
|
0.76480
|
|
NM_002860.4(ALDH18A1):c.88+126A>C
|
rs9787589
|
0.76474
|
|
NM_024306.4(FA2H):c.-84G>C
|
rs8056865
|
0.75683
|
|
NM_001122955.4(BSCL2):c.766-49T>C
|
rs2850597
|
0.75076
|
|
NM_001122955.4(BSCL2):c.765+69A>G
|
rs2850596
|
0.74808
|
|
NM_001385875.1(ZFYVE27):c.413G>T (p.Gly138Val)
|
rs10882993
|
0.74523
|
|
NM_012073.5(CCT5):c.*593A>G
|
rs2578640
|
0.74295
|
|
NM_012073.5(CCT5):c.426T>C (p.Arg142=)
|
rs1042392
|
0.74241
|
|
NM_012073.5(CCT5):c.-23G>A
|
rs2548546
|
0.74239
|
|
NM_014844.5(TECPR2):c.2934-236A>G
|
rs1190552
|
0.74118
|
|
NM_001368809.2(AMPD2):c.860+19A>G
|
rs524998
|
0.73896
|
|
NM_001385875.1(ZFYVE27):c.*40A>G
|
rs1981237
|
0.73851
|
|
NM_001385875.1(ZFYVE27):c.*696G>A
|
rs4244329
|
0.73821
|
|
NM_012073.5(CCT5):c.530+100C>T
|
rs2578614
|
0.73499
|
|
NM_012073.5(CCT5):c.*67A>G
|
rs544
|
0.73487
|
|
NM_012073.5(CCT5):c.*181C>T
|
rs699113
|
0.73464
|
|
NM_012073.5(CCT5):c.*567G>A
|
rs2607286
|
0.73457
|
|
NM_012073.5(CCT5):c.198A>G (p.Gly66=)
|
rs2578617
|
0.73455
|
|
NM_012073.5(CCT5):c.1179+109G>A
|
rs2244717
|
0.73439
|
|
NM_012073.5(CCT5):c.531-98G>A
|
rs2457156
|
0.73436
|
|
NM_012073.5(CCT5):c.1498+36_1498+38del
|
rs370306096
|
0.73432
|
|
NM_012073.5(CCT5):c.1317+10C>A
|
rs2578642
|
0.73429
|
|
NM_012073.5(CCT5):c.*383A>G
|
rs2662533
|
0.73426
|
|
NM_012073.5(CCT5):c.-10T>C
|
rs2578618
|
0.73426
|
|
NM_012073.5(CCT5):c.331+71T>C
|
rs2607294
|
0.73392
|
|
NM_012073.5(CCT5):c.331+133A>C
|
rs2578616
|
0.73340
|
|
NM_001160148.2(DDHD1):c.354C>T (p.His118=)
|
rs2358188
|
0.72343
|
|
NM_031448.6(C19orf12):c.324C>T (p.Thr108=)
|
rs10424582
|
0.72163
|
|
NM_001160148.2(DDHD1):c.273C>T (p.Phe91=)
|
rs2358189
|
0.72157
|
|
NM_014844.5(TECPR2):c.*60A>G
|
rs2403058
|
0.71373
|
|
NM_012073.5(CCT5):c.*824C>G
|
rs2578639
|
0.71210
|
|
NM_001368809.2(AMPD2):c.1272T>C (p.His424=)
|
rs863978
|
0.70414
|
|
NM_005186.4(CAPN1):c.2059+14A>G
|
rs542380
|
0.69873
|
|
NM_015346.4(ZFYVE26):c.2112T>C (p.Pro704=)
|
rs12891164
|
0.68800
|
|
NM_001166114.2(PNPLA6):c.1362+8T>C
|
rs620744
|
0.68799
|
|
NM_020944.3(GBA2):c.1688-10_1688-9insG
|
rs3833700
|
0.68762
|
|
NM_015346.4(ZFYVE26):c.887-38T>C
|
rs181576
|
0.68717
|
|
NM_002156.5(HSPD1):c.273A>G (p.Lys91=)
|
rs8539
|
0.67099
|
|
NM_006612.6(KIF1C):c.2748A>G (p.Pro916=)
|
rs346828
|
0.66831
|
|
NM_006070.6(TFG):c.846T>C (p.Pro282=)
|
rs11353
|
0.66628
|
|
NM_002860.4(ALDH18A1):c.304-34A>G
|
rs2275273
|
0.66239
|
|
NM_144599.5(NIPA1):c.441A>G (p.Thr147=)
|
rs11263683
|
0.65973
|
|
NM_144599.5(NIPA1):c.*972C>T
|
rs8025849
|
0.64186
|
|
NM_183075.3(CYP2U1):c.1127-17T>C
|
rs6856745
|
0.63755
|
|
NM_006070.6(TFG):c.184+39A>T
|
rs9824942
|
0.62995
|
|
NM_001385875.1(ZFYVE27):c.665-20G>T
|
rs3750614
|
0.61549
|
|
NM_007347.5(AP4E1):c.542+59G>A
|
rs2306332
|
0.60959
|
|
NM_015346.4(ZFYVE26):c.4373-35G>A
|
rs2235962
|
0.59379
|
|
NM_001166114.2(PNPLA6):c.3398-36G>A
|
rs535208
|
0.58035
|
|
NM_004722.4(AP4M1):c.544-75T>C
|
rs4729577
|
0.57574
|
|
NM_004722.4(AP4M1):c.147+35T>C
|
rs2293481
|
0.57556
|
|
NM_007347.5(AP4E1):c.222+48_222+49insT
|
rs3214932
|
0.57174
|
|
NM_144599.5(NIPA1):c.*4933C>T
|
rs7181789
|
0.57163
|
|
NM_007347.5(AP4E1):c.346+50G>C
|
rs2663553
|
0.57162
|
|
NM_007347.5(AP4E1):c.222+18G>A
|
rs1147129
|
0.56600
|
|
NM_022089.4(ATP13A2):c.705+228A>G
|
rs2871776
|
0.56136
|
|
NM_022089.4(ATP13A2):c.1815C>T (p.Pro605=)
|
rs2076603
|
0.55111
|
|
NM_006517.5(SLC16A2):c.97T>C (p.Ser33Pro)
|
rs6647476
|
0.54054
|
|
NM_001776.6(ENTPD1):c.263-10T>C
|
rs3181131
|
0.53695
|
|
NM_001371279.1(REEP1):c.33-23A>C
|
rs1863059
|
0.52882
|
|
NM_016630.7(SPG21):c.64-36A>G
|
rs4776659
|
0.52524
|
|
NM_016630.7(SPG21):c.-213C>T
|
rs11071822
|
0.52314
|
|
NM_001385875.1(ZFYVE27):c.-1G>A
|
rs3818876
|
0.51770
|
|
NM_001244008.2(KIF1A):c.*1823C>T
|
rs7566538
|
0.50788
|
|
NC_000010.11:g.95755380G>A
|
rs3814159
|
0.50381
|
|
NM_001166114.2(PNPLA6):c.2260+24G>A
|
rs473899
|
0.50240
|
|
NM_020771.4(HACE1):c.816+4T>A
|
rs6918700
|
0.50198
|
|
NM_058004.4(PI4KA):c.2987+38A>G
|
rs2329583
|
0.48914
|
|
NM_015915.5(ATL1):c.1119+149T>G
|
rs6572678
|
0.48687
|
|
NM_025137.4(SPG11):c.1388T>C (p.Phe463Ser)
|
rs3759871
|
0.48431
|
|
NM_058004.4(PI4KA):c.4053-15G>C
|
rs3852979
|
0.48174
|
|
NM_016630.7(SPG21):c.*257=
|
rs7322
|
0.47940
|
|
NM_001166114.2(PNPLA6):c.3280+38C>T
|
rs489056
|
0.47937
|
|
NM_001244008.2(KIF1A):c.*3494T>C
|
rs4613
|
0.47918
|
|
NM_001128126.3(AP4S1):c.139-110A>G
|
rs7150619
|
0.46271
|
|
NM_058004.4(PI4KA):c.864C>T (p.Cys288=)
|
rs165854
|
0.46048
|
|
NM_004722.4(AP4M1):c.462+34G>A
|
rs999885
|
0.46041
|
|
NM_015915.5(ATL1):c.863-54A>G
|
rs11157759
|
0.45951
|
|
NM_058004.4(PI4KA):c.1005+38_1005+40dup
|
rs362114
|
0.45949
|
|
NM_003119.4(SPG7):c.618+12T>C
|
rs3803679
|
0.45572
|
|
NM_001244008.2(KIF1A):c.991T>C (p.Leu331=)
|
rs1063353
|
0.45235
|
|
NM_058004.4(PI4KA):c.5117-12C>T
|
rs1807692
|
0.44967
|
|
NM_003119.4(SPG7):c.286+46C>T
|
rs3922633
|
0.43914
|
|
NM_015346.4(ZFYVE26):c.*1361T>C
|
rs1044126
|
0.43636
|
|
NM_007347.5(AP4E1):c.487T>C (p.Cys163Arg)
|
rs2306331
|
0.43394
|
|
NM_002860.4(ALDH18A1):c.1606-48T>G
|
rs2296692
|
0.42481
|
|
NM_002860.4(ALDH18A1):c.2207-46G>A
|
rs7099284
|
0.42467
|
|
NM_020771.4(HACE1):c.76+7C>T
|
rs2499655
|
0.42365
|
|
NM_001253852.3(AP4B1):c.1439T>C (p.Leu480Ser)
|
rs1217401
|
0.42071
|
|
NM_022089.4(ATP13A2):c.2970G>A (p.Val990=)
|
rs761421
|
0.41522
|
|
NM_022089.4(ATP13A2):c.3236-30C>T
|
rs2076605
|
0.41484
|
|
NM_004984.4(KIF5A):c.445+22A>G
|
rs775322
|
0.41472
|
|
NM_001166114.2(PNPLA6):c.3699+41C>T
|
rs538850
|
0.41358
|
|
NM_003119.4(SPG7):c.376+4364C>T
|
rs8052076
|
0.41223
|
|
NM_015346.4(ZFYVE26):c.*365A>G
|
rs12879105
|
0.41164
|
|
NM_022089.4(ATP13A2):c.3192C>T (p.Ala1064=)
|
rs9435659
|
0.40884
|
|
NM_022089.4(ATP13A2):c.3516G>A (p.Pro1172=)
|
rs3170740
|
0.40860
|
|
NM_058004.4(PI4KA):c.5390+38G>A
|
rs2329478
|
0.40758
|
|
NM_022089.4(ATP13A2):c.2637C>T (p.Gly879=)
|
rs9435662
|
0.40757
|
|
NM_058004.4(PI4KA):c.5787T>C (p.Thr1929=)
|
rs5996654
|
0.40633
|
|
NM_001318734.2(KLC2):c.1086C>T (p.Asp362=)
|
rs1151539
|
0.40491
|
|
NM_001318734.2(KLC2):c.1444-24C>T
|
rs474005
|
0.40488
|
|
NM_001351169.2(NT5C2):c.1647C>T (p.Asp549=)
|
rs3740387
|
0.40426
|
|
NM_058004.4(PI4KA):c.5679C>T (p.Cys1893=)
|
rs1135929
|
0.40089
|
|
NM_020771.4(HACE1):c.77-4T>C
|
rs9499992
|
0.40002
|
|
NM_058004.4(PI4KA):c.5676+39C>A
|
rs5996656
|
0.39972
|
|
NM_058004.4(PI4KA):c.5677-37G>A
|
rs5996655
|
0.39965
|
|
NM_001371279.1(REEP1):c.417+45T>C
|
rs12988844
|
0.39574
|
|
NM_004820.5(CYP7B1):c.122+19A>T
|
rs7842714
|
0.39118
|
|
NM_058004.4(PI4KA):c.1821-26G>A
|
rs165758
|
0.39089
|
|
NM_002860.4(ALDH18A1):c.2206+15G>A
|
rs10882640
|
0.39029
|
|
NM_014946.4(SPAST):c.*1544G>T
|
rs6709048
|
0.39025
|
|
NM_001371279.1(REEP1):c.285G>A (p.Thr95=)
|
rs2276625
|
0.39011
|
|
NM_025137.4(SPG11):c.4907-365C>T
|
rs2555355
|
0.38470
|
|
NM_152415.3(VPS37A):c.1114-26G>C
|
rs3793427
|
0.38313
|
|
NM_058004.4(PI4KA):c.5116+49T>G
|
rs5751800
|
0.37977
|
|
NM_014946.4(SPAST):c.*2264G>A
|
rs3769602
|
0.37900
|
|
NM_152415.3(VPS37A):c.841+23G>A
|
rs3213601
|
0.37262
|
|
NM_001371279.1(REEP1):c.105+26C>T
|
rs1863058
|
0.37197
|
|
NM_001244008.2(KIF1A):c.*1237C>T
|
rs3732341
|
0.37083
|
|
NM_152415.3(VPS37A):c.970-1604A>G
|
rs10110023
|
0.36222
|
|
NM_014363.6(SACS):c.9981T>C (p.Ala3327=)
|
rs2737700
|
0.36123
|
|
NM_014844.5(TECPR2):c.951+18A>G
|
rs4906197
|
0.35713
|
|
NM_001166114.2(PNPLA6):c.2818-19A>G
|
rs563826
|
0.35658
|
|
NM_001166114.2(PNPLA6):c.2635-19A>C
|
rs539887
|
0.35604
|
|
NM_002361.4(MAG):c.462G>A (p.Glu154=)
|
rs3746248
|
0.35409
|
|
NM_005186.4(CAPN1):c.1341+25A>T
|
rs2271450
|
0.34753
|
|
NM_024306.5(FA2H):c.229C>T (p.Leu77=)
|
rs929881
|
0.33281
|
|
NM_006459.4(ERLIN1):c.871A>G (p.Ile291Val)
|
rs2862954
|
0.32670
|
|
NM_144599.5(NIPA1):c.*1127C>G
|
rs1059774
|
0.32452
|
|
NM_001166114.2(PNPLA6):c.1253-6C>T
|
rs574930
|
0.32237
|
|
NM_058004.4(PI4KA):c.5677-31A>G
|
rs2629351
|
0.32228
|
|
NM_014855.3(AP5Z1):c.*2623A>C
|
rs2880933
|
0.31879
|
|
NM_001253852.3(AP4B1):c.618-13G>C
|
rs3789613
|
0.31448
|
|
NM_001010867.4(IBA57):c.134G>C (p.Gly45Ala)
|
rs55873785
|
0.31221
|
|
NM_024306.5(FA2H):c.*1064C>G
|
rs1046371
|
0.31177
|
|
NM_001371279.1(REEP1):c.*2859T>G
|
rs708600
|
0.30772
|
|
NM_006702.5(PNPLA6):c.-261T>C
|
rs560849
|
0.29546
|
|
NM_015375.3(DSTYK):c.2028C>T (p.Phe676=)
|
rs1062715
|
0.29534
|
|
NM_144599.5(NIPA1):c.*1927A>G
|
rs17807140
|
0.28781
|
|
NM_002860.4(ALDH18A1):c.2110+24A>T
|
rs2296691
|
0.27977
|
|
NM_001244008.2(KIF1A):c.864+16C>T
|
rs2288750
|
0.27959
|
|
NM_005186.4(CAPN1):c.1863+36C>T
|
rs2271448
|
0.27901
|
|
NM_006702.5(PNPLA6):c.-96A>C
|
rs604959
|
0.27892
|
|
NM_002361.4(MAG):c.1209C>T (p.Thr403=)
|
rs1126770
|
0.27773
|
|
NM_014946.4(SPAST):c.*1545T>G
|
rs9789593
|
0.27143
|
|
NM_004722.4(AP4M1):c.1025+44T>C
|
rs2293479
|
0.26357
|
|
NM_020738.4(KIDINS220):c.4824G>T (p.Gln1608His)
|
rs1044280
|
0.26219
|
|
NM_001166114.2(PNPLA6):c.2094G>A (p.Pro698=)
|
rs8107538
|
0.26133
|
|
NM_014844.5(TECPR2):c.348+83A>G
|
rs60215817
|
0.25911
|
|
NM_014844.5(TECPR2):c.2047A>G (p.Ile683Val)
|
rs10149146
|
0.25663
|
|
NM_001010867.4(IBA57):c.631G>A (p.Gly211Ser)
|
rs2298014
|
0.25152
|
|
NM_004984.4(KIF5A):c.36+5C>T
|
rs775249
|
0.25100
|
|
NM_001166114.2(PNPLA6):c.3699+42G>A
|
rs538852
|
0.24937
|
|
NM_015087.5(SPART):c.*524A>G
|
rs1054141
|
0.24371
|
|
NM_015087.5(SPART):c.-145G>A
|
rs9566108
|
0.24276
|
|
NM_015087.4(SPART):c.-253G>A
|
rs2281864
|
0.24249
|
|
NM_000533.5(PLP1):c.609T>C (p.Asp203=)
|
rs1126707
|
0.24238
|
|
NM_015087.5(SPART):c.*817A>T
|
rs7317988
|
0.23950
|
|
NM_015087.5(SPART):c.1629A>G (p.Ala543=)
|
rs2274293
|
0.23882
|
|
NM_002156.5(HSPD1):c.-15C>T
|
rs13165
|
0.23875
|
|
NM_005186.4(CAPN1):c.338-102A>T
|
rs2277307
|
0.23783
|
|
NM_015087.5(SPART):c.*2123T>C
|
rs78129833
|
0.23770
|
|
NM_005186.4(CAPN1):c.363C>T (p.Ile121=)
|
rs17583
|
0.23769
|
|
NM_015087.5(SPART):c.*1799G>A
|
rs9547190
|
0.23738
|
|
NM_015087.5(SPART):c.*608C>T
|
rs1054144
|
0.23719
|
|
NM_022089.4(ATP13A2):c.3084-3C>T
|
rs7531163
|
0.23688
|
|
NM_015087.5(SPART):c.*924C>A
|
rs7333861
|
0.23384
|
|
NM_012073.5(CCT5):c.*382C>T
|
rs2578641
|
0.22645
|
|
NM_152415.3(VPS37A):c.202T>C (p.Leu68=)
|
rs11555738
|
0.22377
|
|
NM_144599.5(NIPA1):c.*287T>C
|
rs3812924
|
0.22372
|
|
NM_014855.3(AP5Z1):c.759C>T (p.Ser253=)
|
rs17135121
|
0.22358
|
|
NM_152415.3(VPS37A):c.1053C>T (p.Asp351=)
|
rs2285269
|
0.22285
|
|
NM_001244008.2(KIF1A):c.3641-8C>T
|
rs56024577
|
0.22160
|
|
NM_014363.6(SACS):c.6195T>C (p.Ile2065=)
|
rs4143768
|
0.21785
|
|
NM_014363.6(SACS):c.8853T>C (p.Val2951=)
|
rs9552929
|
0.21755
|
|
NM_014363.6(SACS):c.10106T>C (p.Val3369Ala)
|
rs17078605
|
0.21747
|
|
NM_014363.6(SACS):c.12304T>C (p.Leu4102=)
|
rs2737699
|
0.21736
|
|
NM_014844.5(TECPR2):c.2934-230T>C
|
rs2273907
|
0.21592
|
|
NM_020771.4(HACE1):c.2292T>C (p.Phe764=)
|
rs7752614
|
0.21476
|
|
NM_007347.5(AP4E1):c.1066+51T>C
|
rs2291107
|
0.20641
|
|
NM_022089.4(ATP13A2):c.2790G>A (p.Ser930=)
|
rs3738815
|
0.20463
|
|
NM_002361.4(MAG):c.399C>T (p.Ser133=)
|
rs2301600
|
0.20297
|
|
NM_058004.4(PI4KA):c.5907T>C (p.Gly1969=)
|
rs444310
|
0.20117
|
|
NM_003119.4(SPG7):c.1450-29G>A
|
rs462464
|
0.20021
|
|
NM_007347.5(AP4E1):c.3387G>A (p.Gln1129=)
|
rs3825798
|
0.19899
|
|
NM_003119.4(SPG7):c.1779+47G>C
|
rs3794632
|
0.19456
|
|
NM_015915.5(ATL1):c.84A>G (p.Pro28=)
|
rs35014209
|
0.18809
|
|
NM_014846.4(WASHC5):c.979-20C>T
|
rs12546285
|
0.18463
|
|
NM_015915.5(ATL1):c.630+7G>A
|
rs3759588
|
0.17660
|
|
NM_015214.3(DDHD2):c.557C>T (p.Thr186Met)
|
rs2306899
|
0.17541
|
|
NM_015346.4(ZFYVE26):c.*1740C>A
|
rs9449
|
0.17216
|
|
NM_014855.3(AP5Z1):c.1707+11T>C
|
rs3750012
|
0.17011
|
|
NM_001122955.4(BSCL2):c.486+11G>T
|
rs72929434
|
0.16805
|
|
NM_002156.5(HSPD1):c.69T>C (p.Thr23=)
|
rs1050347
|
0.16721
|
|
NM_001166114.2(PNPLA6):c.3210+20T>G
|
rs45505598
|
0.16710
|
|
NM_007347.5(AP4E1):c.150+33A>G
|
rs76674534
|
0.16669
|
|
NM_001166114.2(PNPLA6):c.1207G>C (p.Ala403Pro)
|
rs17854645
|
0.16605
|
|
NM_001122955.4(BSCL2):c.1137A>G (p.Glu379=)
|
rs6856
|
0.16571
|
|
NM_015087.5(SPART):c.*846G>A
|
rs1054152
|
0.16315
|
|
NM_001253852.3(AP4B1):c.576C>T (p.Gly192=)
|
rs17464525
|
0.16017
|
|
NM_024306.5(FA2H):c.888A>G (p.Val296=)
|
rs11554621
|
0.15840
|
|
NM_001199753.2(CPT1C):c.2133+11_2133+12insA
|
rs754179152
|
0.15802
|
|
NM_001160148.2(DDHD1):c.2521+10del
|
rs78491021
|
0.15775
|
|
NM_004181.5(UCHL1):c.53C>A (p.Ser18Tyr)
|
rs5030732
|
0.15471
|
|
NM_022836.4(DCLRE1B):c.181C>T (p.His61Tyr)
|
rs11552449
|
0.15327
|
|
NM_005154.5(USP8):c.104+16C>T
|
rs11632708
|
0.14838
|
|
NM_020771.4(HACE1):c.2014+27A>G
|
rs7741145
|
0.14695
|
|
NM_014846.4(WASHC5):c.3291G>A (p.Ala1097=)
|
rs11542889
|
0.14383
|
|
NM_015346.4(ZFYVE26):c.2559G>A (p.Leu853=)
|
rs7143196
|
0.14152
|
|
NM_014846.4(WASHC5):c.187-3C>T
|
rs16900368
|
0.13363
|
|
NM_005154.5(USP8):c.2215A>G (p.Thr739Ala)
|
rs11638390
|
0.13340
|
|
NM_014846.4(WASHC5):c.417+11A>G
|
rs2384917
|
0.13320
|
|
NM_014846.4(WASHC5):c.-124-10G>T
|
rs16900369
|
0.13285
|
|
NM_001368809.2(AMPD2):c.82G>A (p.Ala28Thr)
|
rs28362581
|
0.13084
|
|
NM_001199753.2(CPT1C):c.1326C>T (p.Ala442=)
|
rs12978911
|
0.13050
|
|
NM_003119.4(SPG7):c.1507A>G (p.Thr503Ala)
|
rs2292954
|
0.12849
|
|
NM_003119.4(SPG7):c.2063G>A (p.Arg688Gln)
|
rs12960
|
0.12801
|
|
NM_014844.5(TECPR2):c.1869G>A (p.Gly623=)
|
rs45605932
|
0.12774
|
|
NM_001244008.2(KIF1A):c.*1694C>T
|
rs3732339
|
0.12633
|
|
NM_001199753.2(CPT1C):c.645G>A (p.Ser215=)
|
rs12973248
|
0.12608
|
|
NM_014855.3(AP5Z1):c.*953T>C
|
rs11976063
|
0.11462
|
|
NM_014846.4(WASHC5):c.1764+12A>G
|
rs3765213
|
0.11313
|
|
NM_006459.4(ERLIN1):c.243-18T>C
|
rs3750707
|
0.10883
|
|
NM_001351169.2(NT5C2):c.7A>G (p.Thr3Ala)
|
rs10883841
|
0.10846
|
|
NM_001776.6(ENTPD1):c.573+14A>G
|
rs3176886
|
0.10636
|
|
NM_014844.5(TECPR2):c.2760C>T (p.Ser920=)
|
rs17100923
|
0.10438
|
|
NM_144599.5(NIPA1):c.*2425A>G
|
rs12902722
|
0.10277
|
|
NM_002860.4(ALDH18A1):c.896C>T (p.Thr299Ile)
|
rs2275272
|
0.10214
|
|
NM_014855.3(AP5Z1):c.*1687T>C
|
rs76039626
|
0.09958
|
|
NM_014855.3(AP5Z1):c.*1505C>T
|
rs73305396
|
0.09937
|
|
NM_024306.5(FA2H):c.1039+8T>C
|
rs6564160
|
0.09790
|
|
NM_001351169.2(NT5C2):c.*313C>G
|
rs10786736
|
0.09743
|
|
NM_015161.3(ARL6IP1):c.409-18T>C
|
rs71382566
|
0.09544
|
|
NM_005154.5(USP8):c.1857T>C (p.Phe619=)
|
rs10220843
|
0.09465
|
|
NM_001368809.2(AMPD2):c.91+180C>G
|
rs186745159
|
0.09427
|
|
NM_001368809.2(AMPD2):c.-263+18T>C
|
rs28362580
|
0.09386
|
|
NM_144599.5(NIPA1):c.*1563C>T
|
rs72698098
|
0.09246
|
|
NM_015346.4(ZFYVE26):c.2692A>T (p.Thr898Ser)
|
rs17192170
|
0.09199
|
|
NM_001351169.2(NT5C2):c.1211+20C>A
|
rs17094683
|
0.08793
|
|
NM_058004.4(PI4KA):c.6174-5C>T
|
rs426917
|
0.08694
|
|
NM_016630.7(SPG21):c.*593=
|
rs57438358
|
0.08607
|
|
NM_014363.6(SACS):c.696T>A (p.Asn232Lys)
|
rs2031640
|
0.08558
|
|
NM_014363.6(SACS):c.1656A>G (p.Leu552=)
|
rs1536365
|
0.08543
|
|
NM_006612.6(KIF1C):c.1019+18A>G
|
rs72838331
|
0.08330
|
|
NM_014844.5(TECPR2):c.1418-165G>A
|
rs67088231
|
0.08306
|
|
NM_024306.5(FA2H):c.933T>C (p.Tyr311=)
|
rs11554620
|
0.08207
|
|
NM_006612.6(KIF1C):c.231T>C (p.Ile77=)
|
rs17707385
|
0.08025
|
|
NM_014855.3(AP5Z1):c.512-7A>G
|
rs73305371
|
0.07873
|
|
NM_001166114.2(PNPLA6):c.765C>T (p.Asn255=)
|
rs591040
|
0.07584
|
|
NM_003119.4(SPG7):c.1449+19G>A
|
rs79201073
|
0.07399
|
|
NM_004733.4(SLC33A1):c.512A>G (p.Asp171Gly)
|
rs3804769
|
0.07382
|
|
NM_006612.6(KIF1C):c.1938-4C>G
|
rs4790725
|
0.07329
|
|
NM_058004.4(PI4KA):c.5391-34A>C
|
rs5760167
|
0.07286
|
|
NM_015161.3(ARL6IP1):c.170+12A>T
|
rs17663173
|
0.07245
|
|
NM_004722.4(AP4M1):c.812G>A (p.Arg271His)
|
rs41280968
|
0.07094
|
|
NM_001385875.1(ZFYVE27):c.*1379G>A
|
rs13389
|
0.07015
|
|
NM_058004.4(PI4KA):c.2988-12C>T
|
rs5751852
|
0.06921
|
|
NM_014855.3(AP5Z1):c.*45A>G
|
rs12154545
|
0.06846
|
|
NM_024306.5(FA2H):c.*281C>A
|
rs189104271
|
0.06734
|
|
NM_014855.3(AP5Z1):c.*378T>C
|
rs12154696
|
0.06569
|
|
NM_014855.3(AP5Z1):c.*276T>C
|
rs12154622
|
0.06486
|
|
NM_014855.3(AP5Z1):c.*761G>A
|
rs115198050
|
0.06399
|
|
NM_014855.3(AP5Z1):c.*1355G>A
|
rs6967542
|
0.06387
|
|
NM_014855.3(AP5Z1):c.970-13C>T
|
rs73305376
|
0.06374
|
|
NM_002693.3(POLG):c.3708G>T (p.Gln1236His)
|
rs3087374
|
0.06272
|
|
NM_020738.4(KIDINS220):c.3673C>T (p.Leu1225=)
|
rs61742863
|
0.06114
|
|
NM_002156.5(HSPD1):c.1140C>T (p.Val380=)
|
rs61736612
|
0.06094
|
|
NM_024306.5(FA2H):c.*283G>C
|
rs80215625
|
0.06058
|
|
NM_014855.3(AP5Z1):c.1377C>T (p.Asp459=)
|
rs17135128
|
0.06038
|
|
NM_015087.5(SPART):c.*2343T>C
|
rs34434389
|
0.06013
|
|
NM_020435.4(GJC2):c.*157G>A
|
rs45491398
|
0.05934
|
|
NM_014855.3(AP5Z1):c.*205G>A
|
rs73305394
|
0.05882
|
|
NM_001278116.2(L1CAM):c.2209-6C>T
|
rs7885771
|
0.05725
|
|
NM_014855.3(AP5Z1):c.*2093A>G
|
rs7784925
|
0.05677
|
|
NM_024306.5(FA2H):c.*1131A>C
|
rs7189731
|
0.05665
|
|
NM_003119.4(SPG7):c.1663+13C>T
|
rs80324518
|
0.05587
|
|
NM_001776.6(ENTPD1):c.234G>C (p.Val78=)
|
rs61731067
|
0.05384
|
|
NM_001244008.2(KIF1A):c.*1187C>T
|
rs3732342
|
0.05154
|
|
NM_006612.6(KIF1C):c.1937+11G>T
|
rs346826
|
0.05064
|
|
NM_014855.3(AP5Z1):c.1124T>A (p.Leu375Gln)
|
rs11772411
|
0.05021
|
|
NM_020435.4(GJC2):c.966G>C (p.Ala322=)
|
rs4653910
|
0.05014
|
|
NM_014855.3(AP5Z1):c.1131C>T (p.His377=)
|
rs11768079
|
0.04978
|
|
NM_015346.4(ZFYVE26):c.3365C>T (p.Ala1122Val)
|
rs3742884
|
0.04741
|
|
NM_015346.4(ZFYVE26):c.3308C>T (p.Pro1103Leu)
|
rs3742885
|
0.04730
|
|
NM_021830.5(TWNK):c.1102G>A (p.Val368Ile)
|
rs17113613
|
0.04615
|
|
NM_001244008.2(KIF1A):c.4319-8C>T
|
rs1529663
|
0.04602
|
|
NM_024989.4(PGAP1):c.1862-3C>T
|
rs73988069
|
0.04584
|
|
NM_014855.3(AP5Z1):c.*250T>G
|
rs12154621
|
0.04580
|
|
NM_001244008.2(KIF1A):c.*3038T>A
|
rs116352370
|
0.04560
|
|
NM_001385875.1(ZFYVE27):c.456-12C>T
|
rs12264401
|
0.04525
|
|
NM_014946.4(SPAST):c.*98A>G
|
rs56272862
|
0.04503
|
|
NM_014855.3(AP5Z1):c.1939-9C>T
|
rs73305392
|
0.04460
|
|
NM_001160148.2(DDHD1):c.317G>C (p.Gly106Ala)
|
rs117525276
|
0.04439
|
|
NM_014855.3(AP5Z1):c.*665T>C
|
rs78468795
|
0.04423
|
|
NM_014855.3(AP5Z1):c.*1555C>G
|
rs78049494
|
0.04406
|
|
NM_014855.3(AP5Z1):c.*1182C>T
|
rs11971803
|
0.04393
|
|
NM_014855.3(AP5Z1):c.*2286G>A
|
rs111762282
|
0.04368
|
|
NM_001278116.2(L1CAM):c.*383C>T
|
rs41311708
|
0.04318
|
|
NM_014855.3(AP5Z1):c.*922C>T
|
rs11971749
|
0.04290
|
|
NM_001371279.1(REEP1):c.*1257C>T
|
rs12328643
|
0.04200
|
|
NM_004820.5(CYP7B1):c.56T>C (p.Leu19Pro)
|
rs72554624
|
0.04177
|
|
NM_004820.5(CYP7B1):c.*529A>G
|
rs113473170
|
0.04173
|
|
NM_014844.5(TECPR2):c.1614A>G (p.Pro538=)
|
rs17791240
|
0.04164
|
|
NM_014844.5(TECPR2):c.1315C>T (p.Pro439Ser)
|
rs2273906
|
0.04157
|
|
NM_014844.5(TECPR2):c.1156G>A (p.Ala386Thr)
|
rs11845676
|
0.04113
|
|
NM_022089.4(ATP13A2):c.1005C>T (p.Ala335=)
|
rs56290406
|
0.04044
|
|
NM_015346.4(ZFYVE26):c.3118T>A (p.Ser1040Thr)
|
rs112787369
|
0.03993
|
|
NM_144599.5(NIPA1):c.*3702C>T
|
rs3812923
|
0.03905
|
|
NM_014855.3(AP5Z1):c.*659G>A
|
rs140612456
|
0.03865
|
|
NM_003119.4(SPG7):c.*33C>T
|
rs60711430
|
0.03853
|
|
NM_014855.3(AP5Z1):c.*2882A>G
|
rs113428873
|
0.03836
|
|
NM_014946.4(SPAST):c.*2150G>C
|
rs147721392
|
0.03807
|
|
NM_001371279.1(REEP1):c.*2825A>C
|
rs7580424
|
0.03801
|
|
NM_022089.4(ATP13A2):c.3144C>G (p.Thr1048=)
|
rs56126202
|
0.03793
|
|
NM_006612.6(KIF1C):c.1656A>G (p.Pro552=)
|
rs57144955
|
0.03773
|
|
NM_001244008.2(KIF1A):c.4666-18C>T
|
rs80067787
|
0.03770
|
|
NM_006612.6(KIF1C):c.2298C>T (p.His766=)
|
rs73345356
|
0.03703
|
|
NM_001244008.2(KIF1A):c.*2576A>G
|
rs79286402
|
0.03692
|
|
NM_001244008.2(KIF1A):c.234C>T (p.Gly78=)
|
rs61744930
|
0.03600
|
|
NM_058004.4(PI4KA):c.529+29A>G
|
rs73162824
|
0.03594
|
|
NM_001244008.2(KIF1A):c.*2257C>T
|
rs11547136
|
0.03549
|
|
NM_015346.4(ZFYVE26):c.3757C>T (p.Leu1253=)
|
rs34296097
|
0.03528
|
|
NM_001199753.2(CPT1C):c.453+14A>G
|
rs73588425
|
0.03501
|
|
NM_014855.3(AP5Z1):c.*2841A>G
|
rs62453211
|
0.03480
|
|
NM_020919.4(ALS2):c.280A>G (p.Ile94Val)
|
rs3219154
|
0.03476
|
|
NM_001371279.1(REEP1):c.*630G>A
|
rs60838463
|
0.03472
|
|
NM_002860.4(ALDH18A1):c.-79A>G
|
rs117502632
|
0.03469
|
|
NM_001278116.2(L1CAM):c.1268-10C>T
|
rs112841948
|
0.03467
|
|
NM_002860.4(ALDH18A1):c.1770C>T (p.Ser590=)
|
rs11541780
|
0.03433
|
|
NM_020944.3(GBA2):c.1795+7G>A
|
rs73438754
|
0.03415
|
|
NM_015346.4(ZFYVE26):c.1224G>T (p.Gly408=)
|
rs17104689
|
0.03409
|
|
NM_001244008.2(KIF1A):c.2235C>T (p.Ala745=)
|
rs35945835
|
0.03379
|
|
NM_025137.4(SPG11):c.3420G>A (p.Leu1140=)
|
rs36014111
|
0.03348
|
|
NM_012073.5(CCT5):c.738G>A (p.Ala246=)
|
rs11557649
|
0.03346
|
|
NM_001166114.2(PNPLA6):c.2547G>A (p.Ser849=)
|
rs522776
|
0.03285
|
|
NM_014844.5(TECPR2):c.2050C>G (p.Leu684Val)
|
rs45467297
|
0.03285
|
|
NM_014846.4(WASHC5):c.186+17G>A
|
rs59134934
|
0.03280
|
|
NM_001371279.1(REEP1):c.*2766T>C
|
rs57249135
|
0.03260
|
|
NM_001278116.2(L1CAM):c.855C>T (p.Ala285=)
|
rs1042512
|
0.03189
|
|
NM_001166114.2(PNPLA6):c.2071-15C>T
|
rs7250363
|
0.03172
|
|
NM_001371279.1(REEP1):c.*2457G>C
|
rs77055865
|
0.03118
|
|
NM_001244008.2(KIF1A):c.*1686G>C
|
rs142220621
|
0.03092
|
|
NM_015346.4(ZFYVE26):c.7232G>A (p.Arg2411His)
|
rs34373049
|
0.03090
|
|
NM_001244008.2(KIF1A):c.*1005G>A
|
rs58502378
|
0.03018
|
|
NM_001253852.3(AP4B1):c.402A>C (p.Ser134=)
|
rs34751342
|
0.03013
|
|
NM_006070.6(TFG):c.722-8G>T
|
rs41272979
|
0.02999
|
|
NM_002693.3(POLG):c.2958C>T (p.Tyr986=)
|
rs2307431
|
0.02985
|
|
NM_002860.4(ALDH18A1):c.1977C>T (p.Ser659=)
|
rs1804934
|
0.02975
|
|
NM_015346.4(ZFYVE26):c.-70A>T
|
rs17192296
|
0.02937
|
|
NM_003119.4(SPG7):c.2292C>T (p.Ile764=)
|
rs61747711
|
0.02864
|
|
NM_014363.6(SACS):c.1839G>A (p.Gln613=)
|
rs35840595
|
0.02863
|
|
NM_014846.4(WASHC5):c.1408+7A>G
|
rs16900312
|
0.02845
|
|
NM_014846.4(WASHC5):c.1151-8G>A
|
rs16900335
|
0.02839
|
|
NM_014846.4(WASHC5):c.1245A>G (p.Leu415=)
|
rs10429323
|
0.02837
|
|
NM_001385875.1(ZFYVE27):c.244G>A (p.Val82Ile)
|
rs17108378
|
0.02833
|
|
NM_012073.5(CCT5):c.*856A>C
|
rs72738998
|
0.02833
|
|
NM_001244008.2(KIF1A):c.2977+13C>T
|
rs116600932
|
0.02829
|
|
NM_014855.3(AP5Z1):c.*1441C>T
|
rs112405589
|
0.02801
|
|
NM_144599.5(NIPA1):c.*3278C>G
|
rs57615013
|
0.02793
|
|
NM_006459.4(ERLIN1):c.*213A>G
|
rs3802528
|
0.02723
|
|
NM_001385875.1(ZFYVE27):c.572G>T (p.Gly191Val)
|
rs35077384
|
0.02717
|
|
NM_004984.4(KIF5A):c.*163C>T
|
rs77345621
|
0.02715
|
|
NM_002693.3(POLG):c.3428A>G (p.Glu1143Gly)
|
rs2307441
|
0.02704
|
|
NM_004820.5(CYP7B1):c.971G>A (p.Arg324His)
|
rs59035258
|
0.02701
|
|
NM_005154.5(USP8):c.1328A>G (p.Asp443Gly)
|
rs3743044
|
0.02684
|
|
NM_005154.5(USP8):c.1042G>A (p.Ala348Thr)
|
rs61733869
|
0.02648
|
|
NM_020919.4(ALS2):c.3885G>A (p.Ala1295=)
|
rs34946105
|
0.02614
|
|
NM_015346.4(ZFYVE26):c.2332+7del
|
rs145183291
|
0.02598
|
|
NM_007175.8(ERLIN2):c.318C>T (p.Asn106=)
|
rs16887018
|
0.02568
|
|
NM_183075.3(CYP2U1):c.*31A>G
|
rs79009744
|
0.02566
|
|
NM_005154.5(USP8):c.3033G>A (p.Leu1011=)
|
rs11857513
|
0.02558
|
|
NM_144599.5(NIPA1):c.*2649A>G
|
rs8027756
|
0.02539
|
|
NM_014363.6(SACS):c.2080G>A (p.Ala694Thr)
|
rs17325713
|
0.02528
|
|
NM_014855.3(AP5Z1):c.*2599T>C
|
rs143539039
|
0.02522
|
|
NM_001199753.2(CPT1C):c.1494C>T (p.Asp498=)
|
rs61747405
|
0.02515
|
|
NM_144599.5(NIPA1):c.*5331T>G
|
rs73412681
|
0.02493
|
|
NM_020435.4(GJC2):c.594C>T (p.His198=)
|
rs116557768
|
0.02483
|
|
NM_020435.4(GJC2):c.*95G>A
|
rs1052534
|
0.02481
|
|
NM_024306.5(FA2H):c.*243G>A
|
rs115024147
|
0.02464
|
|
NM_015915.5(ATL1):c.705C>T (p.Phe235=)
|
rs35044504
|
0.02457
|
|
NM_022089.4(ATP13A2):c.3235+17G>A
|
rs56146840
|
0.02453
|
|
NM_144599.5(NIPA1):c.*5299G>C
|
rs73412682
|
0.02437
|
|
NM_014844.5(TECPR2):c.-2C>T
|
rs17100874
|
0.02432
|
|
NM_144599.5(NIPA1):c.*4734G>C
|
rs73412685
|
0.02429
|
|
NM_014363.6(SACS):c.11032C>G (p.Pro3678Ala)
|
rs17078601
|
0.02418
|
|
NM_144599.5(NIPA1):c.*2469A>G
|
rs73412688
|
0.02406
|
|
NM_001368809.2(AMPD2):c.1984-19C>T
|
rs75276578
|
0.02404
|
|
NM_014846.4(WASHC5):c.597A>G (p.Pro199=)
|
rs7812319
|
0.02380
|
|
NM_012073.5(CCT5):c.*1377C>G
|
rs11956986
|
0.02353
|
|
NM_024989.4(PGAP1):c.534T>G (p.Leu178=)
|
rs35444896
|
0.02335
|
|
NM_001244008.2(KIF1A):c.3901+11T>C
|
rs56847463
|
0.02310
|
|
NM_015346.4(ZFYVE26):c.2852C>T (p.Thr951Met)
|
rs35471427
|
0.02295
|
|
NM_014855.3(AP5Z1):c.1554C>T (p.Phe518=)
|
rs77560694
|
0.02284
|
|
NM_001371279.1(REEP1):c.*1415G>T
|
rs116705276
|
0.02275
|
|
NM_001371279.1(REEP1):c.784-19T>G
|
rs141722767
|
0.02274
|
|
NM_001371279.1(REEP1):c.*94T>C
|
rs141976852
|
0.02270
|
|
NM_001371279.1(REEP1):c.*2513G>A
|
rs115098584
|
0.02268
|
|
NM_001371279.1(REEP1):c.*2579T>C
|
rs11902617
|
0.02248
|
|
NM_001166114.2(PNPLA6):c.1252+17C>A
|
rs117630756
|
0.02222
|
|
NM_002860.4(ALDH18A1):c.1029T>C (p.Ile343=)
|
rs41291566
|
0.02201
|
|
NM_004820.5(CYP7B1):c.*337T>G
|
rs118000312
|
0.02195
|
|
NM_024306.5(FA2H):c.*1129G>A
|
rs7184172
|
0.02186
|
|
NM_014855.3(AP5Z1):c.1708-14C>T
|
rs118139547
|
0.02183
|
|
NM_025137.4(SPG11):c.6754+19A>G
|
rs116635875
|
0.02121
|
|
NM_001244008.2(KIF1A):c.4143G>A (p.Pro1381=)
|
rs2241683
|
0.02108
|
|
NM_014946.4(SPAST):c.*2399C>T
|
rs72796869
|
0.02100
|
|
NM_024306.5(FA2H):c.289C>G (p.Pro97Ala)
|
rs35874850
|
0.02064
|
|
NM_014946.4(SPAST):c.*3013T>C
|
rs72796870
|
0.02059
|
|
NM_025137.4(SPG11):c.7023C>T (p.Tyr2341=)
|
rs80338869
|
0.02054
|
|
NM_014855.3(AP5Z1):c.*2849G>T
|
rs149076549
|
0.02042
|
|
NM_001166114.2(PNPLA6):c.183G>A (p.Val61=)
|
rs35732838
|
0.01999
|
|
NM_014855.3(AP5Z1):c.*2501G>A
|
rs115452328
|
0.01978
|
|
NM_001244008.2(KIF1A):c.393C>T (p.Asn131=)
|
rs35139906
|
0.01973
|
|
NM_014855.3(AP5Z1):c.*68G>A
|
rs73305393
|
0.01965
|
|
NM_012073.5(CCT5):c.332-18C>G
|
rs11741923
|
0.01963
|
|
NM_004722.4(AP4M1):c.255-16C>T
|
rs74961284
|
0.01949
|
|
NM_004733.4(SLC33A1):c.327A>G (p.Gln109=)
|
rs74578336
|
0.01921
|
|
NM_015346.4(ZFYVE26):c.6921C>T (p.Ser2307=)
|
rs35917338
|
0.01911
|
|
NM_001385875.1(ZFYVE27):c.378G>A (p.Lys126=)
|
rs75060573
|
0.01901
|
|
NM_003119.4(SPG7):c.1664-15C>A
|
rs80292600
|
0.01888
|
|
NM_000533.5(PLP1):c.622+28C>G
|
rs16984053
|
0.01887
|
|
NM_001160148.2(DDHD1):c.448G>T (p.Gly150Cys)
|
rs73296180
|
0.01877
|
|
NM_001371279.1(REEP1):c.*954G>A
|
rs17510310
|
0.01856
|
|
NM_015346.4(ZFYVE26):c.*1133A>G
|
rs73276687
|
0.01855
|
|
NM_004722.4(AP4M1):c.1305C>T (p.Asn435=)
|
rs4134932
|
0.01854
|
|
NM_007347.5(AP4E1):c.2905-8A>G
|
rs56813592
|
0.01851
|
|
NM_015346.4(ZFYVE26):c.7407T>C (p.Asp2469=)
|
rs35106153
|
0.01846
|
|
NM_001776.6(ENTPD1):c.877G>A (p.Val293Ile)
|
rs3793744
|
0.01829
|
|
NM_003119.4(SPG7):c.1770C>T (p.Ala590=)
|
rs60488729
|
0.01823
|
|
NM_014855.3(AP5Z1):c.2098G>A (p.Val700Met)
|
rs11766611
|
0.01795
|
|
NM_001244008.2(KIF1A):c.3282C>T (p.His1094=)
|
rs35664935
|
0.01793
|
|
NM_001244008.2(KIF1A):c.1503A>G (p.Pro501=)
|
rs35663732
|
0.01790
|
|
NM_152269.5(MTRFR):c.44G>A (p.Arg15Gln)
|
rs78651634
|
0.01784
|
|
NM_003119.4(SPG7):c.2037G>A (p.Ala679=)
|
rs79756036
|
0.01778
|
|
NM_006070.6(TFG):c.416-9T>C
|
rs115896544
|
0.01708
|
|
NM_001278116.2(L1CAM):c.2307C>T (p.Ser769=)
|
rs5987173
|
0.01697
|
|
NM_016630.7(SPG21):c.*489C>T
|
rs72740671
|
0.01694
|
|
NM_014855.3(AP5Z1):c.*2197A>G
|
rs187056670
|
0.01683
|
|
NM_025137.4(SPG11):c.1108G>A (p.Glu370Lys)
|
rs77697105
|
0.01678
|
|
NM_014844.5(TECPR2):c.1802C>T (p.Pro601Leu)
|
rs118141823
|
0.01676
|
|
NM_014855.3(AP5Z1):c.*2244G>A
|
rs117144087
|
0.01674
|
|
NM_005154.5(USP8):c.802T>A (p.Leu268Ile)
|
rs61751062
|
0.01657
|
|
NM_004820.5(CYP7B1):c.-89C>G
|
rs6994347
|
0.01638
|
|
NM_015087.5(SPART):c.*909A>G
|
rs77214733
|
0.01632
|
|
NM_002156.5(HSPD1):c.1688G>C (p.Gly563Ala)
|
rs41265953
|
0.01623
|
|
NM_015346.4(ZFYVE26):c.5784T>C (p.Tyr1928=)
|
rs34852231
|
0.01623
|
|
NM_015346.4(ZFYVE26):c.6987-3C>T
|
rs76728509
|
0.01610
|
|
NM_012073.5(CCT5):c.437A>T (p.Glu146Val)
|
rs11557652
|
0.01601
|
|
NM_015046.7(SETX):c.3182C>T (p.Pro1061Leu)
|
rs12352982
|
0.01591
|
|
NM_006702.5(PNPLA6):c.-214C>T
|
rs141371215
|
0.01588
|
|
NM_014855.3(AP5Z1):c.1529G>A (p.Arg510Gln)
|
rs77890266
|
0.01561
|
|
NM_014855.3(AP5Z1):c.333G>C (p.Gln111His)
|
rs11549840
|
0.01556
|
|
NM_014855.3(AP5Z1):c.*1594C>A
|
rs138654444
|
0.01555
|
|
NM_014855.3(AP5Z1):c.1197G>A (p.Glu399=)
|
rs117666541
|
0.01551
|
|
NM_014855.3(AP5Z1):c.*856G>A
|
rs148032002
|
0.01546
|
|
NM_183075.3(CYP2U1):c.490+6C>T
|
rs147612190
|
0.01512
|
|
NM_014855.3(AP5Z1):c.1369C>T (p.Leu457=)
|
rs111358719
|
0.01503
|
|
NM_001371279.1(REEP1):c.*2995T>C
|
rs17438464
|
0.01493
|
|
NM_001368809.2(AMPD2):c.1104G>A (p.Ser368=)
|
rs34030799
|
0.01484
|
|
NM_006612.6(KIF1C):c.1293G>A (p.Thr431=)
|
rs35919356
|
0.01482
|
|
NM_002693.3(POLG):c.128A>G (p.Gln43Arg)
|
rs28567406
|
0.01478
|
|
NM_006070.6(TFG):c.945G>A (p.Pro315=)
|
rs61736338
|
0.01477
|
|
NM_006612.6(KIF1C):c.2987G>A (p.Ser996Asn)
|
rs115332491
|
0.01470
|
|
NM_001253852.3(AP4B1):c.1365T>C (p.Tyr455=)
|
rs114201291
|
0.01466
|
|
NM_014855.3(AP5Z1):c.*901C>T
|
rs112176131
|
0.01465
|
|
NM_007347.5(AP4E1):c.1085A>G (p.Tyr362Cys)
|
rs58909326
|
0.01464
|
|
NM_144599.5(NIPA1):c.*1405G>C
|
rs7181585
|
0.01455
|
|
NM_015046.7(SETX):c.2975A>G (p.Lys992Arg)
|
rs61742937
|
0.01445
|
|
NM_003119.4(SPG7):c.2188A>G (p.Asn730Asp)
|
rs35749032
|
0.01431
|
|
NM_001244008.2(KIF1A):c.2979C>T (p.Ala993=)
|
rs116297894
|
0.01425
|
|
NM_020944.3(GBA2):c.1267G>A (p.Gly423Ser)
|
rs79325774
|
0.01424
|
|
NM_002860.4(ALDH18A1):c.1115C>A (p.Ser372Tyr)
|
rs3765571
|
0.01418
|
|
NM_014844.5(TECPR2):c.2941C>A (p.Gln981Lys)
|
rs62000389
|
0.01415
|
|
NM_001244008.2(KIF1A):c.183+15C>T
|
rs73102676
|
0.01412
|
|
NM_014363.6(SACS):c.7149C>T (p.Arg2383=)
|
rs17078608
|
0.01409
|
|
NM_001244008.2(KIF1A):c.*108C>T
|
rs1061113
|
0.01399
|
|
NM_014846.4(WASHC5):c.3225A>G (p.Pro1075=)
|
rs34569226
|
0.01390
|
|
NM_001385875.1(ZFYVE27):c.*733A>G
|
rs74809305
|
0.01385
|
|
NM_014855.3(AP5Z1):c.2379G>T (p.Thr793=)
|
rs77393809
|
0.01379
|
|
NM_016630.7(SPG21):c.843C>T (p.Tyr281=)
|
rs147428832
|
0.01378
|
|
NM_024989.4(PGAP1):c.2007C>T (p.Ala669=)
|
rs149815494
|
0.01375
|
|
NM_002156.5(HSPD1):c.428-10G>A
|
rs111401572
|
0.01367
|
|
NM_014855.3(AP5Z1):c.281C>G (p.Ser94Cys)
|
rs11549839
|
0.01367
|
|
NM_014855.3(AP5Z1):c.*586T>C
|
rs34767537
|
0.01362
|
|
NM_015087.5(SPART):c.*451G>A
|
rs1054149
|
0.01337
|
|
NM_001244008.2(KIF1A):c.2859-18G>A
|
rs150076186
|
0.01335
|
|
NM_021830.5(TWNK):c.*204G>A
|
rs61871507
|
0.01328
|
|
NM_001166114.2(PNPLA6):c.181G>C (p.Val61Leu)
|
rs112732576
|
0.01318
|
|
NM_025137.4(SPG11):c.2083G>A (p.Ala695Thr)
|
rs78183930
|
0.01302
|
|
NM_015046.7(SETX):c.6507G>A (p.Gly2169=)
|
rs34073320
|
0.01300
|
|
NM_001160148.2(DDHD1):c.136G>A (p.Gly46Ser)
|
rs61985140
|
0.01292
|
|
NM_001122955.4(BSCL2):c.88-662C>A
|
rs117597269
|
0.01291
|
|
NM_014946.4(SPAST):c.*256A>G
|
rs6730400
|
0.01284
|
|
NM_001244008.2(KIF1A):c.*241C>G
|
rs1061114
|
0.01283
|
|
NM_025137.4(SPG11):c.1348A>G (p.Ile450Val)
|
rs3759873
|
0.01282
|
|
NM_025137.4(SPG11):c.6330G>A (p.Gly2110=)
|
rs35932349
|
0.01279
|
|
NM_001371279.1(REEP1):c.*737T>C
|
rs150465452
|
0.01271
|
|
NM_005154.5(USP8):c.400C>T (p.Leu134=)
|
rs114541731
|
0.01271
|
|
NM_025137.4(SPG11):c.1347C>T (p.Thr449=)
|
rs3759874
|
0.01269
|
|
NM_022089.4(ATP13A2):c.1617G>T (p.Leu539=)
|
rs61739752
|
0.01259
|
|
NM_003119.4(SPG7):c.9G>T (p.Val3=)
|
rs553241838
|
0.01255
|
|
NM_025137.4(SPG11):c.7256A>G (p.Lys2419Arg)
|
rs76116949
|
0.01253
|
|
NM_004984.4(KIF5A):c.2957C>T (p.Pro986Leu)
|
rs113247976
|
0.01241
|
|
NM_152415.3(VPS37A):c.316-17T>C
|
rs117165264
|
0.01240
|
|
NM_025137.4(SPG11):c.1698T>G (p.Asp566Glu)
|
rs79708848
|
0.01235
|
|
NM_015346.4(ZFYVE26):c.*1768C>T
|
rs57048278
|
0.01228
|
|
NM_007347.5(AP4E1):c.2429C>T (p.Thr810Ile)
|
rs75130619
|
0.01213
|
|
NM_002693.3(POLG):c.2254C>T (p.Leu752=)
|
rs41564016
|
0.01204
|
|
NM_001010867.4(IBA57):c.264C>G (p.Ala88=)
|
rs13375853
|
0.01203
|
|
NM_020435.4(GJC2):c.108C>T (p.Ile36=)
|
rs75469429
|
0.01203
|
|
NM_022089.4(ATP13A2):c.881G>A (p.Arg294Gln)
|
rs56367069
|
0.01203
|
|
NM_003119.4(SPG7):c.881G>A (p.Arg294His)
|
rs115661328
|
0.01169
|
|
NM_001371279.1(REEP1):c.*2131G>A
|
rs58401741
|
0.01166
|
|
NM_024989.3(PGAP1):c.-94G>A
|
rs186535521
|
0.01160
|
|
NM_001166114.2(PNPLA6):c.2706C>T (p.Gly902=)
|
rs113264142
|
0.01159
|
|
NM_005154.5(USP8):c.3038+16T>G
|
rs116360546
|
0.01156
|
|
NM_001244008.2(KIF1A):c.*3596C>T
|
rs143001518
|
0.01152
|
|
NM_014855.3(AP5Z1):c.379G>A (p.Glu127Lys)
|
rs115454162
|
0.01129
|
|
NM_006070.6(TFG):c.552G>A (p.Ala184=)
|
rs35648279
|
0.01123
|
|
NM_003119.4(SPG7):c.*195C>T
|
rs113818240
|
0.01111
|
|
NM_003119.4(SPG7):c.*140G>T
|
rs112587045
|
0.01110
|
|
NM_003119.4(SPG7):c.2295C>T (p.Asp765=)
|
rs61747712
|
0.01110
|
|
NM_003119.4(SPG7):c.*592C>T
|
rs8059296
|
0.01109
|
|
NM_003119.4(SPG7):c.*656G>C
|
rs8058221
|
0.01109
|
|
NM_024989.4(PGAP1):c.2604T>C (p.Asn868=)
|
rs74459402
|
0.01097
|
|
NM_001278116.2(L1CAM):c.2872C>G (p.Leu958Val)
|
rs35902890
|
0.01086
|
|
NM_002361.4(MAG):c.409A>G (p.Ile137Val)
|
rs113328438
|
0.01072
|
|
NM_001166114.2(PNPLA6):c.3094-5C>T
|
rs116788699
|
0.01066
|
|
NM_014946.4(SPAST):c.*591A>T
|
rs115996749
|
0.01062
|
|
NM_003119.4(SPG7):c.2280G>A (p.Pro760=)
|
rs11559075
|
0.01053
|
|
NM_001244008.2(KIF1A):c.*2458G>A
|
rs62187810
|
0.01052
|
|
NM_006612.6(KIF1C):c.1166-8C>T
|
rs114935927
|
0.01049
|
|
NM_007215.4(POLG2):c.1247G>C (p.Gly416Ala)
|
rs17850455
|
0.01048
|
|
NM_022089.4(ATP13A2):c.2763-16G>A
|
rs114407349
|
0.01044
|
|
NM_012073.5(CCT5):c.*866A>C
|
rs114441137
|
0.01043
|
|
NM_001278116.2(L1CAM):c.720G>A (p.Pro240=)
|
rs35151382
|
0.01040
|
|
NM_006517.5(SLC16A2):c.123C>T (p.Pro41=)
|
rs369603991
|
0.01028
|
|
NM_014946.4(SPAST):c.*1962A>G
|
rs187724468
|
0.01019
|
|
NM_014946.4(SPAST):c.*1963A>G
|
rs192476121
|
0.01008
|
|
NM_001371279.1(REEP1):c.*965G>A
|
rs76860896
|
0.01007
|
|
NM_001244008.2(KIF1A):c.363+16C>T
|
rs7594569
|
0.01003
|
|
NM_001244008.2(KIF1A):c.2385C>T (p.Ala795=)
|
rs62637652
|
0.00997
|
|
NM_004722.4(AP4M1):c.58+12C>T
|
rs189367118
|
0.00997
|
|
NM_014363.6(SACS):c.10305T>C (p.Ser3435=)
|
rs35670472
|
0.00986
|
|
NM_014363.6(SACS):c.12762C>T (p.Ser4254=)
|
rs11554397
|
0.00978
|
|
NM_014855.3(AP5Z1):c.1708-5C>T
|
rs184752711
|
0.00977
|
|
NM_015346.4(ZFYVE26):c.5612G>A (p.Cys1871Tyr)
|
rs61746722
|
0.00962
|
|
NM_025137.4(SPG11):c.3037A>G (p.Lys1013Glu)
|
rs111347025
|
0.00958
|
|
NM_025137.4(SPG11):c.4810T>C (p.Phe1604Leu)
|
rs116807842
|
0.00956
|
|
NM_025137.4(SPG11):c.6319G>A (p.Val2107Ile)
|
rs115970214
|
0.00950
|
|
NM_014946.4(SPAST):c.879G>A (p.Pro293=)
|
rs145264166
|
0.00943
|
|
NM_001166114.2(PNPLA6):c.1704C>G (p.Pro568=)
|
rs62111288
|
0.00930
|
|
NM_001166114.2(PNPLA6):c.3603G>A (p.Gln1201=)
|
rs112133109
|
0.00930
|
|
NM_001385875.1(ZFYVE27):c.*132C>T
|
rs115982037
|
0.00929
|
|
NM_006517.5(SLC16A2):c.873A>T (p.Pro291=)
|
rs12849161
|
0.00922
|
|
NM_014855.3(AP5Z1):c.1312-20C>T
|
rs114137831
|
0.00915
|
|
NM_015915.5(ATL1):c.35-14G>A
|
rs115722924
|
0.00906
|
|
NM_002693.3(POLG):c.1586-5del
|
rs2307434
|
0.00891
|
|
NM_015346.4(ZFYVE26):c.1844C>T (p.Ser615Phe)
|
rs117228915
|
0.00888
|
|
NM_001166114.2(PNPLA6):c.555-20G>A
|
rs183762415
|
0.00880
|
|
NM_005154.5(USP8):c.2511G>A (p.Leu837=)
|
rs79646551
|
0.00880
|
|
NM_014844.5(TECPR2):c.952-5G>A
|
rs55716270
|
0.00869
|
|
NM_004984.4(KIF5A):c.*394A>G
|
rs114621289
|
0.00866
|
|
NM_001244008.2(KIF1A):c.184-10C>T
|
rs7594776
|
0.00865
|
|
NM_001244008.2(KIF1A):c.4812C>A (p.Thr1604=)
|
rs76974316
|
0.00862
|
|
NM_001278116.2(L1CAM):c.1977T>C (p.Pro659=)
|
rs143382184
|
0.00854
|
|
NM_005619.5(RTN2):c.51A>G (p.Thr17=)
|
rs117156117
|
0.00852
|
|
NM_005154.5(USP8):c.1296A>G (p.Gln432=)
|
rs3131561
|
0.00850
|
|
NM_025137.4(SPG11):c.808G>A (p.Val270Ile)
|
rs80338868
|
0.00845
|
|
NM_001244008.2(KIF1A):c.3063+17C>T
|
rs116040950
|
0.00839
|
|
NM_014855.3(AP5Z1):c.*2490G>C
|
rs150684624
|
0.00831
|
|
NM_015346.4(ZFYVE26):c.2826G>A (p.Met942Ile)
|
rs117367857
|
0.00826
|
|
NM_020435.4(GJC2):c.947C>T (p.Pro316Leu)
|
rs760502262
|
0.00823
|
|
NM_015915.5(ATL1):c.*621G>A
|
rs1060183
|
0.00821
|
|
NM_014855.3(AP5Z1):c.*2198G>C
|
rs148554790
|
0.00813
|
|
NM_025137.4(SPG11):c.7197G>A (p.Lys2399=)
|
rs61732733
|
0.00809
|
|
NM_014363.6(SACS):c.12649A>G (p.Asn4217Asp)
|
rs35799469
|
0.00804
|
|
NM_014946.4(SPAST):c.*2318G>A
|
rs141017850
|
0.00800
|
|
NM_014855.3(AP5Z1):c.1132+14G>T
|
rs139019097
|
0.00792
|
|
NM_015915.5(ATL1):c.693T>C (p.Gly231=)
|
rs139720661
|
0.00790
|
|
NM_001244008.2(KIF1A):c.5021+16C>T
|
rs138847355
|
0.00783
|
|
NM_025137.4(SPG11):c.6258G>T (p.Leu2086=)
|
rs150761878
|
0.00781
|
|
NM_003119.4(SPG7):c.120G>A (p.Gly40=)
|
rs187330648
|
0.00779
|
|
NM_014363.6(SACS):c.8345C>T (p.Ala2782Val)
|
rs61742500
|
0.00776
|
|
NM_014363.6(SACS):c.8344G>A (p.Ala2782Thr)
|
rs61742502
|
0.00775
|
|
NM_144599.5(NIPA1):c.*4363C>T
|
rs139459875
|
0.00774
|
|
NM_002693.3(POLG):c.3597C>A (p.Thr1199=)
|
rs2307443
|
0.00770
|
|
NM_012073.5(CCT5):c.1194G>A (p.Ala398=)
|
rs113262482
|
0.00768
|
|
NM_007347.5(AP4E1):c.542+11T>G
|
rs58882998
|
0.00762
|
|
NM_015346.4(ZFYVE26):c.*583C>T
|
rs72723172
|
0.00761
|
|
NM_014946.4(SPAST):c.*765A>C
|
rs141666739
|
0.00757
|
|
NM_015346.4(ZFYVE26):c.6229G>A (p.Gly2077Arg)
|
rs140540720
|
0.00750
|
|
NM_014946.4(SPAST):c.*1454G>C
|
rs147052682
|
0.00749
|
|
NM_001166114.2(PNPLA6):c.2133G>A (p.Leu711=)
|
rs113335442
|
0.00745
|
|
NM_003119.4(SPG7):c.*362C>T
|
rs111725561
|
0.00744
|
|
NM_003119.4(SPG7):c.*549A>C
|
rs114970695
|
0.00742
|
|
NM_014946.4(SPAST):c.*1604G>A
|
rs192438402
|
0.00742
|
|
NM_014946.4(SPAST):c.*51A>G
|
rs6730121
|
0.00739
|
|
NM_014946.4(SPAST):c.*1410T>G
|
rs75645928
|
0.00737
|
|
NM_001368809.2(AMPD2):c.223-4C>T
|
rs116223306
|
0.00736
|
|
NM_020944.3(GBA2):c.946G>A (p.Gly316Arg)
|
rs113785628
|
0.00736
|
|
NM_015087.5(SPART):c.*1150A>G
|
rs7336020
|
0.00735
|
|
NM_014946.4(SPAST):c.1728+16A>G
|
rs76494041
|
0.00731
|
|
NM_002156.5(HSPD1):c.1360T>C (p.Leu454=)
|
rs147135152
|
0.00727
|
|
NM_003119.4(SPG7):c.*441T>C
|
rs114306117
|
0.00720
|
|
NM_005619.5(RTN2):c.1593C>T (p.Ala531=)
|
rs148630935
|
0.00720
|
|
NM_015346.4(ZFYVE26):c.5678G>T (p.Ser1893Ile)
|
rs34952009
|
0.00716
|
|
NM_001244008.2(KIF1A):c.3852T>C (p.His1284=)
|
rs184931664
|
0.00715
|
|
NM_006612.6(KIF1C):c.1751-7T>A
|
rs148404628
|
0.00709
|
|
NM_002693.3(POLG):c.2492A>G (p.Tyr831Cys)
|
rs41549716
|
0.00708
|
|
NM_014363.6(SACS):c.4117G>C (p.Ala1373Pro)
|
rs61326562
|
0.00706
|
|
NM_014363.6(SACS):c.6069C>T (p.Asn2023=)
|
rs35369023
|
0.00706
|
|
NM_014363.6(SACS):c.4118C>T (p.Ala1373Val)
|
rs61548169
|
0.00705
|
|
NM_014363.6(SACS):c.5502G>C (p.Leu1834=)
|
rs34389000
|
0.00705
|
|
NM_001244008.2(KIF1A):c.4318+17C>T
|
rs138964333
|
0.00704
|
|
NM_004984.4(KIF5A):c.396+14G>A
|
rs17119769
|
0.00700
|
|
NM_005619.5(RTN2):c.792C>A (p.Phe264Leu)
|
rs61745812
|
0.00699
|
|
NM_014855.3(AP5Z1):c.*1670G>C
|
rs149234202
|
0.00696
|
|
NM_014855.3(AP5Z1):c.*92G>A
|
rs112283999
|
0.00696
|
|
NM_025137.4(SPG11):c.3818A>G (p.Lys1273Arg)
|
rs76389165
|
0.00694
|
|
NM_015346.4(ZFYVE26):c.*1009T>C
|
rs78689507
|
0.00688
|
|
NM_152415.3(VPS37A):c.616A>T (p.Ile206Phe)
|
rs17502618
|
0.00682
|
|
NM_022089.4(ATP13A2):c.145G>A (p.Gly49Ser)
|
rs56379718
|
0.00681
|
|
NM_025137.4(SPG11):c.*243A>G
|
rs116069609
|
0.00669
|
|
NM_014855.3(AP5Z1):c.-3G>A
|
rs142983676
|
0.00667
|
|
NM_025137.4(SPG11):c.2621-15T>G
|
rs188590034
|
0.00667
|
|
NM_004722.4(AP4M1):c.228C>T (p.Pro76=)
|
rs41280965
|
0.00663
|
|
NM_001010867.4(IBA57):c.462C>T (p.His154=)
|
rs148398789
|
0.00658
|
|
NM_004722.4(AP4M1):c.1002C>T (p.Leu334=)
|
rs140843407
|
0.00656
|
|
NM_015046.7(SETX):c.1968A>G (p.Val656=)
|
rs113997459
|
0.00654
|
|
NM_015046.7(SETX):c.1957C>A (p.Gln653Lys)
|
rs116333061
|
0.00653
|
|
NM_014855.3(AP5Z1):c.*2678T>C
|
rs186689012
|
0.00647
|
|
NM_022089.4(ATP13A2):c.3430G>A (p.Ala1144Thr)
|
rs151181674
|
0.00646
|
|
NM_001122955.4(BSCL2):c.1234+20G>A
|
rs113229350
|
0.00638
|
|
NM_003119.4(SPG7):c.1936+12C>T
|
rs112379588
|
0.00628
|
|
NM_020738.4(KIDINS220):c.2568C>T (p.Leu856=)
|
rs61742927
|
0.00627
|
|
NM_001385875.1(ZFYVE27):c.*1517G>C
|
rs41290466
|
0.00618
|
|
NM_014846.4(WASHC5):c.3319G>A (p.Val1107Met)
|
rs138407503
|
0.00618
|
|
NM_020944.3(GBA2):c.1037C>T (p.Thr346Met)
|
rs34353044
|
0.00613
|
|
NM_001160148.2(DDHD1):c.453G>A (p.Pro151=)
|
rs141323589
|
0.00610
|
|
NM_001385875.1(ZFYVE27):c.516C>T (p.Arg172=)
|
rs116366646
|
0.00608
|
|
NM_015346.4(ZFYVE26):c.2887G>C (p.Val963Leu)
|
rs116890187
|
0.00606
|
|
NM_006070.6(TFG):c.663C>A (p.Gly221=)
|
rs140669729
|
0.00603
|
|
NM_014855.3(AP5Z1):c.2230G>A (p.Ala744Thr)
|
rs183580097
|
0.00602
|
|
NM_015046.7(SETX):c.59G>A (p.Arg20His)
|
rs79740039
|
0.00602
|
|
NM_002156.5(HSPD1):c.144C>T (p.Ala48=)
|
rs11551346
|
0.00595
|
|
NM_014855.3(AP5Z1):c.791-5C>T
|
rs73671921
|
0.00595
|
|
NM_024306.5(FA2H):c.*34G>A
|
rs75856125
|
0.00592
|
|
NM_001253852.3(AP4B1):c.1793-9C>G
|
rs17031980
|
0.00589
|
|
NM_022089.4(ATP13A2):c.1195+10G>A
|
rs55689004
|
0.00585
|
|
NM_002361.4(MAG):c.1657A>C (p.Asn553His)
|
rs141352771
|
0.00583
|
|
NM_005619.5(RTN2):c.1143G>A (p.Ala381=)
|
rs45532933
|
0.00572
|
|
NM_002860.4(ALDH18A1):c.*140C>T
|
rs76824727
|
0.00570
|
|
NM_001385875.1(ZFYVE27):c.32C>T (p.Pro11Leu)
|
rs112316490
|
0.00564
|
|
NM_014363.6(SACS):c.6051G>C (p.Lys2017Asn)
|
rs35865691
|
0.00562
|
|
NM_014855.3(AP5Z1):c.-1G>C
|
rs146143723
|
0.00560
|
|
NM_003119.4(SPG7):c.1937-16C>G
|
rs74590011
|
0.00558
|
|
NM_003119.4(SPG7):c.1457G>A (p.Arg486Gln)
|
rs111475461
|
0.00551
|
|
NM_005619.5(RTN2):c.444C>G (p.Gly148=)
|
rs139232850
|
0.00550
|
|
NM_002693.3(POLG):c.1984G>A (p.Glu662Lys)
|
rs2307450
|
0.00547
|
|
NM_002361.4(MAG):c.47-4G>T
|
rs147119099
|
0.00546
|
|
NM_014844.5(TECPR2):c.4082-16G>A
|
rs116168966
|
0.00545
|
|
NM_007347.5(AP4E1):c.171G>A (p.Gln57=)
|
rs28463775
|
0.00543
|
|
NM_015915.5(ATL1):c.*305T>C
|
rs2291674
|
0.00541
|
|
NM_001385875.1(ZFYVE27):c.*1310T>C
|
rs147739377
|
0.00539
|
|
NM_152415.3(VPS37A):c.315+14A>C
|
rs59713854
|
0.00537
|
|
NM_015915.5(ATL1):c.1230G>A (p.Gly410=)
|
rs148548325
|
0.00531
|
|
NM_144599.5(NIPA1):c.*3910G>A
|
rs74767096
|
0.00528
|
|
NM_001253852.3(AP4B1):c.240A>G (p.Pro80=)
|
rs34249695
|
0.00525
|
|
NM_001271803.2(REEP2):c.696+13G>A
|
rs190729345
|
0.00525
|
|
NM_006612.6(KIF1C):c.2105C>T (p.Thr702Ile)
|
rs138935423
|
0.00523
|
|
NM_025137.4(SPG11):c.4687A>G (p.Arg1563Gly)
|
rs75430389
|
0.00523
|
|
NM_014363.6(SACS):c.4466A>G (p.Asn1489Ser)
|
rs147099630
|
0.00521
|
|
NM_014946.4(SPAST):c.131C>T (p.Ser44Leu)
|
rs121908515
|
0.00521
|
|
NM_025137.4(SPG11):c.993C>T (p.Ser331=)
|
rs76823973
|
0.00519
|
|
NM_002693.3(POLG):c.1550G>T (p.Gly517Val)
|
rs61752783
|
0.00516
|
|
NM_001320916.1(ENTPD1):c.52G>A (p.Glu18Lys)
|
rs192954755
|
0.00513
|
|
NM_014363.6(SACS):c.1593C>T (p.Ile531=)
|
rs113756713
|
0.00513
|
|
NM_015346.4(ZFYVE26):c.7586C>G (p.Pro2529Arg)
|
rs143198225
|
0.00510
|
|
NM_001385875.1(ZFYVE27):c.126C>T (p.Leu42=)
|
rs17419023
|
0.00508
|
|
NM_014363.6(SACS):c.6781C>A (p.Leu2261Ile)
|
rs146722795
|
0.00506
|
|
NM_022089.4(ATP13A2):c.453C>T (p.Ser151=)
|
rs55979991
|
0.00505
|
|
NM_007347.5(AP4E1):c.2755A>G (p.Met919Val)
|
rs115188375
|
0.00503
|
|
NM_024306.5(FA2H):c.*520G>A
|
rs187456324
|
0.00503
|
|
NM_020919.4(ALS2):c.4764G>A (p.Ala1588=)
|
rs35110478
|
0.00499
|
|
NM_015087.5(SPART):c.-8G>A
|
rs567106287
|
0.00498
|
|
NM_015046.7(SETX):c.1807A>G (p.Asn603Asp)
|
rs116205032
|
0.00493
|
|
NM_012073.5(CCT5):c.1086C>G (p.Ile362Met)
|
rs141675330
|
0.00491
|
|
NM_014846.4(WASHC5):c.867A>C (p.Val289=)
|
rs79464415
|
0.00491
|
|
NM_001166114.2(PNPLA6):c.4078G>A (p.Gly1360Ser)
|
rs145178162
|
0.00490
|
|
NM_007347.5(AP4E1):c.1283A>G (p.Asn428Ser)
|
rs116796602
|
0.00488
|
|
NM_014855.3(AP5Z1):c.*1641A>C
|
rs192055966
|
0.00486
|
|
NM_014855.3(AP5Z1):c.*1187G>A
|
rs188242891
|
0.00485
|
|
NM_022089.4(ATP13A2):c.2093T>C (p.Val698Ala)
|
rs61734958
|
0.00485
|
|
NM_015046.7(SETX):c.4755T>G (p.Pro1585=)
|
rs151237267
|
0.00484
|
|
NM_003119.4(SPG7):c.*398G>A
|
rs148314733
|
0.00483
|
|
NM_002156.5(HSPD1):c.27C>G (p.Arg9=)
|
rs11551349
|
0.00481
|
|
NM_014855.3(AP5Z1):c.*150G>A
|
rs186823399
|
0.00478
|
|
NM_006070.6(TFG):c.1090A>C (p.Thr364Pro)
|
rs6772054
|
0.00476
|
|
NM_001244008.2(KIF1A):c.*2403G>A
|
rs115916702
|
0.00474
|
|
NM_014855.3(AP5Z1):c.369T>C (p.Gly123=)
|
rs182431279
|
0.00474
|
|
NM_001244008.2(KIF1A):c.*1241G>T
|
rs114566813
|
0.00473
|
|
NM_001244008.2(KIF1A):c.*1418G>A
|
rs115877951
|
0.00472
|
|
NM_002860.4(ALDH18A1):c.2207-3C>T
|
rs149309642
|
0.00472
|
|
NM_015346.4(ZFYVE26):c.6588+7C>T
|
rs186040735
|
0.00471
|
|
NM_022089.4(ATP13A2):c.132A>G (p.Pro44=)
|
rs200816691
|
0.00471
|
|
NM_001244008.2(KIF1A):c.4604C>T (p.Ala1535Val)
|
rs141441058
|
0.00470
|
|
NM_015046.7(SETX):c.2672T>C (p.Val891Ala)
|
rs148181729
|
0.00470
|
|
NM_001166114.2(PNPLA6):c.1457C>T (p.Pro486Leu)
|
rs145191932
|
0.00466
|
|
NM_002693.3(POLG):c.3198G>A (p.Thr1066=)
|
rs61752780
|
0.00460
|
|
NM_004733.4(SLC33A1):c.1482+7A>G
|
rs149522913
|
0.00458
|
|
NM_025137.4(SPG11):c.4434+11T>C
|
rs146501021
|
0.00456
|
|
NM_001351169.2(NT5C2):c.921+18T>G
|
rs17115449
|
0.00452
|
|
NM_001166114.2(PNPLA6):c.4073C>T (p.Pro1358Leu)
|
rs116012798
|
0.00451
|
|
NM_014363.6(SACS):c.12597A>G (p.Pro4199=)
|
rs112630127
|
0.00451
|
|
NM_003119.4(SPG7):c.1032C>T (p.Gly344=)
|
rs116319889
|
0.00450
|
|
NM_005619.5(RTN2):c.351A>G (p.Gln117=)
|
rs144028452
|
0.00450
|
|
NM_006612.6(KIF1C):c.1165+4G>A
|
rs192489748
|
0.00449
|
|
NM_025137.4(SPG11):c.4923G>C (p.Lys1641Asn)
|
rs150218102
|
0.00449
|
|
NM_014363.6(SACS):c.11688G>A (p.Arg3896=)
|
rs116791509
|
0.00448
|
|
NM_014363.6(SACS):c.10821C>A (p.Ile3607=)
|
rs113595574
|
0.00447
|
|
NM_001253852.3(AP4B1):c.1189A>G (p.Ile397Val)
|
rs145182838
|
0.00445
|
|
NM_031448.6(C19orf12):c.392A>C (p.Lys131Thr)
|
rs79915936
|
0.00444
|
|
NM_015161.3(ARL6IP1):c.204C>T (p.Ser68=)
|
rs138748723
|
0.00441
|
|
NM_001199753.2(CPT1C):c.1731+7T>A
|
rs201870376
|
0.00439
|
|
NM_002361.4(MAG):c.1617-17C>T
|
rs148059390
|
0.00439
|
|
NM_001003800.2(BICD2):c.269A>G (p.Lys90Arg)
|
rs61754130
|
0.00437
|
|
NM_014855.3(AP5Z1):c.*2334C>T
|
rs533072379
|
0.00435
|
|
NM_014946.4(SPAST):c.*2589T>G
|
rs149425698
|
0.00431
|
|
NM_015046.7(SETX):c.7640T>C (p.Ile2547Thr)
|
rs151117904
|
0.00431
|
|
NM_005154.5(USP8):c.1448G>A (p.Arg483Gln)
|
rs115970610
|
0.00426
|
|
NM_001371279.1(REEP1):c.486C>T (p.Asp162=)
|
rs139806812
|
0.00425
|
|
NM_004722.4(AP4M1):c.1344C>T (p.Ala448=)
|
rs57403878
|
0.00425
|
|
NM_006702.5(PNPLA6):c.-122G>A
|
rs45483295
|
0.00423
|
|
NM_001166114.2(PNPLA6):c.414-18C>T
|
rs149630061
|
0.00421
|
|
NM_001371279.1(REEP1):c.381C>T (p.Asn127=)
|
rs36008495
|
0.00419
|
|
NM_014855.3(AP5Z1):c.*1760G>A
|
rs77146005
|
0.00418
|
|
NM_006070.6(TFG):c.594T>G (p.Ala198=)
|
rs12562
|
0.00417
|
|
NM_031448.6(C19orf12):c.69G>A (p.Ala23=)
|
rs201118405
|
0.00414
|
|
NM_006612.6(KIF1C):c.1666+12G>C
|
rs190329136
|
0.00411
|
|
NM_014855.3(AP5Z1):c.*2710A>G
|
rs193143390
|
0.00410
|
|
NM_015214.3(DDHD2):c.912T>A (p.Ile304=)
|
rs139393309
|
0.00410
|
|
NM_024989.4(PGAP1):c.1753C>G (p.Gln585Glu)
|
rs62185645
|
0.00410
|
|
NM_144599.5(NIPA1):c.*3393A>T
|
rs147611065
|
0.00409
|
|
NM_152415.3(VPS37A):c.24C>T (p.Thr8=)
|
rs146098391
|
0.00409
|
|
NM_001166114.2(PNPLA6):c.3954C>T (p.Ala1318=)
|
rs34030828
|
0.00408
|
|
NM_015346.4(ZFYVE26):c.5484+13G>A
|
rs140117984
|
0.00407
|
|
NM_001253852.3(AP4B1):c.1723A>G (p.Ile575Val)
|
rs114734921
|
0.00406
|
|
NM_005154.5(USP8):c.1162A>G (p.Lys388Glu)
|
rs150568948
|
0.00404
|
|
NM_001244008.2(KIF1A):c.-13G>A
|
rs140017120
|
0.00401
|
|
NM_002361.4(MAG):c.1716+18G>C
|
rs10419210
|
0.00401
|
|
NM_014363.6(SACS):c.*821A>G
|
rs145184122
|
0.00401
|
|
NM_024306.5(FA2H):c.*958C>T
|
rs115575599
|
0.00401
|
|
NM_144599.5(NIPA1):c.*1012A>G
|
rs186626641
|
0.00401
|
|
NM_015046.7(SETX):c.7371T>C (p.His2457=)
|
rs113071480
|
0.00399
|
|
NM_006612.6(KIF1C):c.1815G>A (p.Leu605=)
|
rs78356534
|
0.00398
|
|
NM_016630.7(SPG21):c.318T>C (p.Phe106=)
|
rs147236778
|
0.00396
|
|
NM_001371279.1(REEP1):c.*1325T>C
|
rs3731816
|
0.00394
|
|
NM_004984.4(KIF5A):c.2769G>A (p.Arg923=)
|
rs35225609
|
0.00394
|
|
NM_001244008.2(KIF1A):c.*2543C>T
|
rs141926687
|
0.00392
|
|
NM_001371279.1(REEP1):c.*1614G>A
|
rs3731817
|
0.00389
|
|
NM_012073.5(CCT5):c.*320T>C
|
rs186512015
|
0.00389
|
|
NM_001385875.1(ZFYVE27):c.62C>T (p.Ala21Val)
|
rs140812293
|
0.00388
|
|
NM_014844.5(TECPR2):c.3275C>T (p.Ser1092Leu)
|
rs72700618
|
0.00388
|
|
NM_002361.4(MAG):c.452C>T (p.Ala151Val)
|
rs144553163
|
0.00387
|
|
NM_014855.3(AP5Z1):c.*532G>A
|
rs527985598
|
0.00387
|
|
NM_003119.4(SPG7):c.1653C>T (p.Arg551=)
|
rs56031686
|
0.00386
|
|
NM_014855.3(AP5Z1):c.428G>A (p.Arg143Gln)
|
rs186993311
|
0.00386
|
|
NM_014855.3(AP5Z1):c.*897G>A
|
rs572278037
|
0.00383
|
|
NM_006612.6(KIF1C):c.1111G>A (p.Ala371Thr)
|
rs142056835
|
0.00379
|
|
NM_014855.3(AP5Z1):c.*2013C>T
|
rs191668940
|
0.00378
|
|
NM_012073.5(CCT5):c.*1400A>G
|
rs140380065
|
0.00377
|
|
NM_006612.6(KIF1C):c.2646T>C (p.Asn882=)
|
rs77312856
|
0.00374
|
|
NM_001371279.1(REEP1):c.*1330A>T
|
rs141138007
|
0.00373
|
|
NM_001166114.2(PNPLA6):c.1005+14G>A
|
rs190321280
|
0.00371
|
|
NM_007215.4(POLG2):c.397C>T (p.His133Tyr)
|
rs112984118
|
0.00371
|
|
NM_014844.5(TECPR2):c.3075+18C>T
|
rs140418145
|
0.00371
|
|
NM_014855.3(AP5Z1):c.*2858G>C
|
rs193054132
|
0.00371
|
|
NM_001244008.2(KIF1A):c.3259C>T (p.Pro1087Ser)
|
rs143037290
|
0.00369
|
|
NM_025137.4(SPG11):c.2656T>C (p.Tyr886His)
|
rs139687202
|
0.00369
|
|
NM_005154.5(USP8):c.1516A>C (p.Lys506Gln)
|
rs113169913
|
0.00368
|
|
NM_014844.5(TECPR2):c.3790-18G>C
|
rs138918519
|
0.00368
|
|
NM_015346.4(ZFYVE26):c.5653+16G>A
|
rs140437859
|
0.00367
|
|
NM_002361.4(MAG):c.1799C>T (p.Ser600Leu)
|
rs116643737
|
0.00364
|
|
NM_002693.3(POLG):c.803G>C (p.Gly268Ala)
|
rs61752784
|
0.00364
|
|
NM_014844.5(TECPR2):c.1789C>T (p.Leu597Phe)
|
rs116185336
|
0.00363
|
|
NM_014855.3(AP5Z1):c.*734G>C
|
rs193235922
|
0.00363
|
|
NM_002156.5(HSPD1):c.1216-9C>T
|
rs189395138
|
0.00361
|
|
NM_003119.4(SPG7):c.1529C>T (p.Ala510Val)
|
rs61755320
|
0.00361
|
|
NM_015346.4(ZFYVE26):c.2401+13C>G
|
rs77104978
|
0.00360
|
|
NM_015214.3(DDHD2):c.226G>T (p.Gly76Cys)
|
rs141644282
|
0.00358
|
|
NM_015214.3(DDHD2):c.227G>A (p.Gly76Asp)
|
rs150361106
|
0.00358
|
|
NM_006612.6(KIF1C):c.183+17G>C
|
rs113047933
|
0.00357
|
|
NM_014846.4(WASHC5):c.2100G>A (p.Val700=)
|
rs148936723
|
0.00357
|
|
NM_001199753.2(CPT1C):c.2077C>A (p.Leu693Met)
|
rs79488403
|
0.00356
|
|
NM_012073.5(CCT5):c.*670T>A
|
rs114402073
|
0.00354
|
|
NM_025137.4(SPG11):c.64A>G (p.Met22Val)
|
rs34255962
|
0.00354
|
|
NM_012073.5(CCT5):c.1059G>A (p.Leu353=)
|
rs114634318
|
0.00353
|
|
NM_015346.4(ZFYVE26):c.6819G>A (p.Arg2273=)
|
rs144007962
|
0.00349
|
|
NM_015046.7(SETX):c.472T>G (p.Leu158Val)
|
rs145438764
|
0.00347
|
|
NM_002361.4(MAG):c.246C>T (p.His82=)
|
rs142156011
|
0.00345
|
|
NM_003119.4(SPG7):c.1779+20G>A
|
rs145805850
|
0.00345
|
|
NM_015346.4(ZFYVE26):c.*1214C>G
|
rs187267330
|
0.00345
|
|
NM_001010867.4(IBA57):c.980T>C (p.Ile327Thr)
|
rs61745091
|
0.00343
|
|
NM_001160148.2(DDHD1):c.1012+619C>A
|
rs192493244
|
0.00343
|
|
NM_014363.6(SACS):c.6336A>C (p.Arg2112Ser)
|
rs80132141
|
0.00343
|
|
NM_014855.3(AP5Z1):c.1557A>G (p.Gln519=)
|
rs201687417
|
0.00341
|
|
NM_022089.4(ATP13A2):c.2724G>A (p.Ser908=)
|
rs79724242
|
0.00341
|
|
NM_144599.5(NIPA1):c.*5237G>C
|
rs74003089
|
0.00338
|
|
NM_012073.5(CCT5):c.*487C>T
|
rs144767471
|
0.00337
|
|
NM_006612.6(KIF1C):c.2099C>T (p.Pro700Leu)
|
rs148934699
|
0.00336
|
|
NM_020919.4(ALS2):c.475G>A (p.Glu159Lys)
|
rs3219155
|
0.00334
|
|
NM_007347.5(AP4E1):c.1177-9T>C
|
rs145851652
|
0.00333
|
|
NM_001478.5(B4GALNT1):c.793G>A (p.Gly265Arg)
|
rs144922627
|
0.00332
|
|
NM_014363.6(SACS):c.8339T>G (p.Phe2780Cys)
|
rs111540787
|
0.00332
|
|
NM_014855.3(AP5Z1):c.*1065C>T
|
rs558005571
|
0.00332
|
|
NM_014844.5(TECPR2):c.2939G>C (p.Arg980Thr)
|
rs144147210
|
0.00331
|
|
NM_001244008.2(KIF1A):c.3202+10C>A
|
rs190997558
|
0.00326
|
|
NM_002860.4(ALDH18A1):c.2001G>A (p.Glu667=)
|
rs78731297
|
0.00326
|
|
NM_014363.6(SACS):c.13717A>C (p.Asn4573His)
|
rs34382952
|
0.00326
|
|
NM_001244008.2(KIF1A):c.183+7C>T
|
rs74469870
|
0.00324
|
|
NM_022089.4(ATP13A2):c.1614C>T (p.Pro538=)
|
rs56351817
|
0.00324
|
|
NM_014855.3(AP5Z1):c.126C>T (p.Leu42=)
|
rs146682319
|
0.00321
|
|
NM_014855.3(AP5Z1):c.*531G>A
|
rs114076345
|
0.00320
|
|
NM_014855.3(AP5Z1):c.1133-19G>C
|
rs148117172
|
0.00320
|
|
NM_014855.3(AP5Z1):c.900C>T (p.Tyr300=)
|
rs146915189
|
0.00319
|
|
NM_015346.4(ZFYVE26):c.7055C>T (p.Thr2352Ile)
|
rs151166497
|
0.00319
|
|
NM_138368.5(AP5B1):c.1201C>T (p.Leu401Phe)
|
rs201041158
|
0.00319
|
|
NM_014855.3(AP5Z1):c.*2222G>A
|
rs377673816
|
0.00318
|
|
NM_001368809.2(AMPD2):c.1242C>T (p.Tyr414=)
|
rs114727970
|
0.00316
|
|
NM_001199753.2(CPT1C):c.1524A>G (p.Thr508=)
|
rs181225621
|
0.00313
|
|
NM_001368809.2(AMPD2):c.1407+3A>G
|
rs41280332
|
0.00312
|
|
NM_007175.8(ERLIN2):c.696G>A (p.Lys232=)
|
rs138164407
|
0.00311
|
|
NM_006702.5(PNPLA6):c.-53T>C
|
rs571796329
|
0.00308
|
|
NM_015346.4(ZFYVE26):c.*88G>A
|
rs73276691
|
0.00308
|
|
NM_002693.3(POLG):c.2481-7C>T
|
rs2307448
|
0.00307
|
|
NM_015046.7(SETX):c.7724C>T (p.Pro2575Leu)
|
rs34000644
|
0.00304
|
|
NM_001368809.2(AMPD2):c.1716C>T (p.Ser572=)
|
rs116415979
|
0.00302
|
|
NM_001122955.4(BSCL2):c.1280T>C (p.Leu427Pro)
|
rs145649423
|
0.00301
|
|
NM_015214.3(DDHD2):c.1127A>G (p.Asp376Gly)
|
rs148664622
|
0.00300
|
|
NM_014855.3(AP5Z1):c.*2719C>A
|
rs140555165
|
0.00299
|
|
NM_001244008.2(KIF1A):c.2266-20G>A
|
rs141243762
|
0.00296
|
|
NM_015046.7(SETX):c.2216G>A (p.Gly739Glu)
|
rs36024203
|
0.00293
|
|
NM_014363.6(SACS):c.3129A>G (p.Ser1043=)
|
rs148878361
|
0.00292
|
|
NM_014855.3(AP5Z1):c.*1733C>T
|
rs182383318
|
0.00291
|
|
NM_015346.4(ZFYVE26):c.5121A>C (p.Gly1707=)
|
rs143981992
|
0.00291
|
|
NM_006612.6(KIF1C):c.1937+14A>C
|
rs188650236
|
0.00288
|
|
NM_014855.3(AP5Z1):c.774G>A (p.Pro258=)
|
rs373689894
|
0.00288
|
|
NM_007347.5(AP4E1):c.852A>G (p.Leu284=)
|
rs114575519
|
0.00287
|
|
NM_014855.3(AP5Z1):c.768G>A (p.Glu256=)
|
rs377532483
|
0.00287
|
|
NM_014844.5(TECPR2):c.1260C>T (p.Ser420=)
|
rs147784739
|
0.00286
|
|
NM_024306.5(FA2H):c.*821C>G
|
rs573058036
|
0.00283
|
|
NM_024989.4(PGAP1):c.906T>C (p.Leu302=)
|
rs138525017
|
0.00283
|
|
NM_001160148.2(DDHD1):c.1993-17T>G
|
rs112572275
|
0.00282
|
|
NM_015087.5(SPART):c.*644G>A
|
rs560213662
|
0.00282
|
|
NM_014363.6(SACS):c.9846A>G (p.Pro3282=)
|
rs61753111
|
0.00281
|
|
NM_015915.5(ATL1):c.*475G>A
|
rs111734056
|
0.00281
|
|
NM_020839.4(WDR48):c.280T>G (p.Ser94Ala)
|
rs148407227
|
0.00279
|
|
NM_014855.3(AP5Z1):c.881G>A (p.Arg294Gln)
|
rs200957609
|
0.00278
|
|
NM_006612.6(KIF1C):c.153C>T (p.Thr51=)
|
rs147583562
|
0.00277
|
|
NM_014846.4(WASHC5):c.-245C>G
|
rs185375174
|
0.00277
|
|
NM_015346.4(ZFYVE26):c.4264G>A (p.Val1422Met)
|
rs148552744
|
0.00276
|
|
NM_006702.5(PNPLA6):c.-43+3G>A
|
rs185247203
|
0.00274
|
|
NM_015214.3(DDHD2):c.1168C>T (p.Leu390=)
|
rs142190071
|
0.00274
|
|
NM_015346.4(ZFYVE26):c.2401+11T>A
|
rs191741115
|
0.00274
|
|
NM_015046.7(SETX):c.2113A>C (p.Ile705Leu)
|
rs34781846
|
0.00272
|
|
NM_015346.4(ZFYVE26):c.6849A>G (p.Thr2283=)
|
rs74935043
|
0.00272
|
|
NM_015346.4(ZFYVE26):c.7371+18C>T
|
rs149769693
|
0.00272
|
|
NM_025137.4(SPG11):c.6224A>G (p.Asn2075Ser)
|
rs140824939
|
0.00270
|
|
NM_144599.5(NIPA1):c.*5044G>C
|
rs191543264
|
0.00270
|
|
NM_020919.4(ALS2):c.4119A>G (p.Ile1373Met)
|
rs61757691
|
0.00269
|
|
NM_001244008.2(KIF1A):c.3816+18C>T
|
rs201725464
|
0.00267
|
|
NM_004733.4(SLC33A1):c.1525G>A (p.Gly509Ser)
|
rs76440173
|
0.00267
|
|
NM_014855.3(AP5Z1):c.*2338G>A
|
rs189898090
|
0.00267
|
|
NM_025137.4(SPG11):c.4578A>G (p.Thr1526=)
|
rs151137503
|
0.00267
|
|
NM_003119.4(SPG7):c.987+19G>A
|
rs62071462
|
0.00263
|
|
NM_015915.5(ATL1):c.621G>A (p.Lys207=)
|
rs35629585
|
0.00263
|
|
NM_014855.3(AP5Z1):c.*2642T>G
|
rs537332416
|
0.00262
|
|
NM_031448.6(C19orf12):c.413A>G (p.Gln138Arg)
|
rs73023451
|
0.00262
|
|
NM_144599.5(NIPA1):c.*4218G>A
|
rs182099304
|
0.00260
|
|
NM_002693.3(POLG):c.948G>A (p.Lys316=)
|
rs61756401
|
0.00259
|
|
NM_006612.6(KIF1C):c.*61G>A
|
rs146218874
|
0.00258
|
|
NM_015346.4(ZFYVE26):c.3722G>A (p.Arg1241Gln)
|
rs140756827
|
0.00258
|
|
NM_006070.6(TFG):c.184+11T>C
|
rs200924045
|
0.00255
|
|
NM_014363.6(SACS):c.2721G>A (p.Leu907=)
|
rs140118958
|
0.00255
|
|
NM_001371279.1(REEP1):c.*2485G>A
|
rs146273697
|
0.00254
|
|
NM_001385875.1(ZFYVE27):c.*500C>T
|
rs148426983
|
0.00254
|
|
NM_015214.3(DDHD2):c.2047T>A (p.Cys683Ser)
|
rs148536791
|
0.00254
|
|
NM_001244008.2(KIF1A):c.4917G>A (p.Leu1639=)
|
rs187810230
|
0.00252
|
|
NM_002361.4(MAG):c.1609C>T (p.Arg537Cys)
|
rs35237014
|
0.00252
|
|
NM_015046.7(SETX):c.*254C>T
|
rs11545230
|
0.00252
|
|
NM_152415.3(VPS37A):c.637A>G (p.Ile213Val)
|
rs17687375
|
0.00252
|
|
NM_015046.7(SETX):c.4660T>G (p.Cys1554Gly)
|
rs112089123
|
0.00250
|
|
NM_015346.4(ZFYVE26):c.1184G>T (p.Gly395Val)
|
rs35512910
|
0.00250
|
|
NM_014855.3(AP5Z1):c.*537G>A
|
rs146804830
|
0.00248
|
|
NM_014855.3(AP5Z1):c.41+16G>A
|
rs139999461
|
0.00247
|
|
NM_015346.4(ZFYVE26):c.4854C>T (p.Leu1618=)
|
rs151287975
|
0.00246
|
|
NM_014844.5(TECPR2):c.1470C>T (p.Ser490=)
|
rs149584733
|
0.00245
|
|
NM_014855.3(AP5Z1):c.*432C>G
|
rs149131747
|
0.00245
|
|
NM_001199753.2(CPT1C):c.721T>C (p.Tyr241His)
|
rs144205321
|
0.00242
|
|
NM_005619.5(RTN2):c.1168G>A (p.Gly390Ser)
|
rs143937661
|
0.00242
|
|
NM_014363.6(SACS):c.10611A>G (p.Ala3537=)
|
rs137856939
|
0.00236
|
|
NM_015346.4(ZFYVE26):c.7417-5G>C
|
rs201771769
|
0.00236
|
|
NM_007215.4(POLG2):c.1158T>G (p.Asp386Glu)
|
rs61751983
|
0.00235
|
|
NM_014846.4(WASHC5):c.617A>G (p.Asn206Ser)
|
rs150026441
|
0.00235
|
|
NM_001244008.2(KIF1A):c.1421+19G>A
|
rs200809257
|
0.00233
|
|
NM_001244008.2(KIF1A):c.363+7A>G
|
rs1396977726
|
0.00230
|
|
NM_001244008.2(KIF1A):c.4889G>A (p.Arg1630Gln)
|
rs191428830
|
0.00228
|
|
NM_007347.5(AP4E1):c.2346+10C>T
|
rs112190952
|
0.00228
|
|
NM_022089.4(ATP13A2):c.3342C>T (p.Thr1114=)
|
rs115985012
|
0.00228
|
|
NM_001199753.2(CPT1C):c.1915G>A (p.Ala639Thr)
|
rs143478074
|
0.00227
|
|
NM_001385875.1(ZFYVE27):c.*413C>T
|
rs181508408
|
0.00227
|
|
NM_014363.6(SACS):c.1373C>T (p.Thr458Ile)
|
rs61729954
|
0.00227
|
|
NM_014855.3(AP5Z1):c.366+5C>T
|
rs143800095
|
0.00227
|
|
NM_022089.4(ATP13A2):c.1195+9C>T
|
rs117758987
|
0.00227
|
|
NM_001199753.2(CPT1C):c.2392A>G (p.Met798Val)
|
rs113511313
|
0.00226
|
|
NM_014855.3(AP5Z1):c.*910G>A
|
rs773520179
|
0.00226
|
|
NM_006459.4(ERLIN1):c.369C>T (p.His123=)
|
rs150796906
|
0.00224
|
|
NM_014946.4(SPAST):c.*1376A>G
|
rs575900032
|
0.00223
|
|
NM_004984.4(KIF5A):c.1293+9G>A
|
rs201749114
|
0.00222
|
|
NM_015087.5(SPART):c.*2035T>C
|
rs79095999
|
0.00220
|
|
NM_015346.4(ZFYVE26):c.6405G>A (p.Leu2135=)
|
rs76327447
|
0.00220
|
|
NM_024306.5(FA2H):c.847G>A (p.Val283Ile)
|
rs138244546
|
0.00220
|
|
NM_025137.4(SPG11):c.4001+9G>T
|
rs141177255
|
0.00220
|
|
NM_001371279.1(REEP1):c.*2784G>A
|
rs567893414
|
0.00218
|
|
NM_001371279.1(REEP1):c.*1398G>A
|
rs577908626
|
0.00217
|
|
NM_022089.4(ATP13A2):c.*130C>T
|
rs189334432
|
0.00217
|
|
NM_144599.5(NIPA1):c.*3480C>T
|
rs112696483
|
0.00216
|
|
NM_001166114.2(PNPLA6):c.173T>C (p.Val58Ala)
|
rs188353745
|
0.00215
|
|
NM_006070.6(TFG):c.415+16A>G
|
rs201290760
|
0.00215
|
|
NM_001166114.2(PNPLA6):c.2937-6C>T
|
rs200932494
|
0.00214
|
|
NM_001244008.2(KIF1A):c.3345C>G (p.Ala1115=)
|
rs370286749
|
0.00214
|
|
NM_015915.5(ATL1):c.*392C>A
|
rs138209522
|
0.00214
|
|
NM_183075.3(CYP2U1):c.1151G>T (p.Arg384Ile)
|
rs142676629
|
0.00214
|
|
NM_001244008.2(KIF1A):c.*1111C>T
|
rs73119967
|
0.00213
|
|
NM_014946.4(SPAST):c.1493+18G>T
|
rs189961829
|
0.00213
|
|
NM_001244008.2(KIF1A):c.3888C>T (p.Arg1296=)
|
rs144520412
|
0.00211
|
|
NM_014946.4(SPAST):c.865C>T (p.His289Tyr)
|
rs74688377
|
0.00210
|
|
NM_001244008.2(KIF1A):c.2898C>G (p.Pro966=)
|
rs140783695
|
0.00209
|
|
NM_020919.4(ALS2):c.2241C>T (p.Tyr747=)
|
rs3219160
|
0.00208
|
|
NM_006612.6(KIF1C):c.3071G>A (p.Arg1024Gln)
|
rs141225452
|
0.00204
|
|
NM_015346.4(ZFYVE26):c.453C>T (p.Ser151=)
|
rs75391113
|
0.00203
|
|
NM_001166114.2(PNPLA6):c.4060C>T (p.Leu1354=)
|
rs150392453
|
0.00202
|
|
NM_005154.5(USP8):c.583A>G (p.Lys195Glu)
|
rs147742292
|
0.00202
|
|
NM_001385875.1(ZFYVE27):c.*894G>C
|
rs534547830
|
0.00201
|
|
NM_014855.3(AP5Z1):c.481G>A (p.Val161Met)
|
rs191971593
|
0.00201
|
|
NM_015346.4(ZFYVE26):c.1933A>G (p.Met645Val)
|
rs77129887
|
0.00201
|
|
NM_015346.4(ZFYVE26):c.*307G>A
|
rs142018207
|
0.00200
|
|
NM_012073.5(CCT5):c.331+14A>T
|
rs201171003
|
0.00199
|
|
NM_004984.4(KIF5A):c.*425C>T
|
rs180971201
|
0.00198
|
|
NM_014363.6(SACS):c.10982C>T (p.Ala3661Val)
|
rs36061856
|
0.00198
|
|
NM_001244008.2(KIF1A):c.*912A>G
|
rs189536509
|
0.00197
|
|
NM_014363.6(SACS):c.4076T>C (p.Met1359Thr)
|
rs146451611
|
0.00197
|
|
NM_020944.3(GBA2):c.326G>A (p.Ser109Asn)
|
rs140988229
|
0.00197
|
|
NM_002361.4(MAG):c.1104G>A (p.Thr368=)
|
rs140483946
|
0.00196
|
|
NM_012073.5(CCT5):c.1350G>A (p.Ala450=)
|
rs142127415
|
0.00195
|
|
NM_022089.4(ATP13A2):c.2367C>T (p.Leu789=)
|
rs140048110
|
0.00195
|
|
NM_001244008.2(KIF1A):c.363+20C>T
|
rs199804274
|
0.00194
|
|
NM_001244008.2(KIF1A):c.5043G>A (p.Gly1681=)
|
rs143815273
|
0.00194
|
|
NM_002693.3(POLG):c.1174C>G (p.Leu392Val)
|
rs145289229
|
0.00194
|
|
NM_014363.6(SACS):c.7737G>A (p.Lys2579=)
|
rs139279302
|
0.00192
|
|
NM_014946.4(SPAST):c.484G>A (p.Val162Ile)
|
rs141944844
|
0.00192
|
|
NM_001160148.2(DDHD1):c.1503+10A>T
|
rs180742508
|
0.00191
|
|
NM_015087.5(SPART):c.1130A>T (p.Lys377Met)
|
rs148672324
|
0.00191
|
|
NM_024306.5(FA2H):c.1113G>C (p.Thr371=)
|
rs140017632
|
0.00191
|
|
NM_004733.4(SLC33A1):c.136G>A (p.Glu46Lys)
|
rs149571533
|
0.00190
|
|
NM_004733.4(SLC33A1):c.1451A>C (p.Asn484Thr)
|
rs144015992
|
0.00190
|
|
NM_001368809.2(AMPD2):c.708T>G (p.Pro236=)
|
rs114624650
|
0.00189
|
|
NM_006702.5(PNPLA6):c.-99A>C
|
rs192922627
|
0.00189
|
|
NM_144599.5(NIPA1):c.*2780G>T
|
rs183353690
|
0.00189
|
|
NM_015087.5(SPART):c.*2299T>C
|
rs564428460
|
0.00187
|
|
NM_014855.3(AP5Z1):c.*690A>G
|
rs145742120
|
0.00185
|
|
NM_144599.5(NIPA1):c.*5071C>T
|
rs141920126
|
0.00185
|
|
NM_004722.4(AP4M1):c.*23C>T
|
rs189536527
|
0.00184
|
|
NM_014846.4(WASHC5):c.*218T>C
|
rs151072408
|
0.00183
|
|
NM_014846.4(WASHC5):c.2771-7T>C
|
rs142685897
|
0.00181
|
|
NM_001271803.2(REEP2):c.565+15C>T
|
rs200034716
|
0.00180
|
|
NM_001278116.2(L1CAM):c.36C>A (p.Leu12=)
|
rs140678848
|
0.00180
|
|
NM_015087.5(SPART):c.361G>T (p.Asp121Tyr)
|
rs146398746
|
0.00180
|
|
NM_020738.4(KIDINS220):c.3586-7T>C
|
rs139887022
|
0.00180
|
|
NM_001385875.1(ZFYVE27):c.79C>G (p.Pro27Ala)
|
rs34979921
|
0.00179
|
|
NM_001776.5(ENTPD1):c.-86A>C
|
rs75902129
|
0.00179
|
|
NM_015346.4(ZFYVE26):c.*819C>T
|
rs572957445
|
0.00179
|
|
NM_144599.5(NIPA1):c.*4964G>A
|
rs146129067
|
0.00179
|
|
NM_001278116.2(L1CAM):c.2302G>A (p.Val768Ile)
|
rs36021462
|
0.00178
|
|
NM_004722.4(AP4M1):c.525G>A (p.Leu175=)
|
rs113020957
|
0.00178
|
|
NM_014363.6(SACS):c.8393C>A (p.Pro2798Gln)
|
rs140551762
|
0.00178
|
|
NM_014844.4(TECPR2):c.-260C>T
|
rs572588758
|
0.00178
|
|
NM_015046.7(SETX):c.7114G>A (p.Asp2372Asn)
|
rs150673589
|
0.00178
|
|
NM_058004.4(PI4KA):c.4672C>T (p.Leu1558=)
|
rs113882528
|
0.00176
|
|
NM_001244008.2(KIF1A):c.2958G>C (p.Val986=)
|
rs186881889
|
0.00175
|
|
NM_025137.4(SPG11):c.6759C>G (p.Asp2253Glu)
|
rs141818132
|
0.00175
|
|
NM_058004.4(PI4KA):c.4368C>T (p.Tyr1456=)
|
rs113584704
|
0.00175
|
|
NM_001166114.2(PNPLA6):c.3234C>T (p.Asn1078=)
|
rs148831568
|
0.00174
|
|
NM_001199753.2(CPT1C):c.1401C>T (p.Ser467=)
|
rs144722270
|
0.00172
|
|
NM_002361.4(MAG):c.47-17C>T
|
rs201985530
|
0.00172
|
|
NM_001271803.2(REEP2):c.78C>T (p.Ala26=)
|
rs146777982
|
0.00171
|
|
NM_014363.6(SACS):c.2988A>G (p.Leu996=)
|
rs111846884
|
0.00170
|
|
NM_001368809.2(AMPD2):c.1984-15C>G
|
rs368592941
|
0.00168
|
|
NM_004722.4(AP4M1):c.861C>T (p.Ser287=)
|
rs142325884
|
0.00168
|
|
NM_183075.3(CYP2U1):c.60C>T (p.Leu20=)
|
rs535692203
|
0.00168
|
|
NM_015346.4(ZFYVE26):c.4066T>G (p.Cys1356Gly)
|
rs149276487
|
0.00166
|
|
NM_015087.5(SPART):c.1155T>G (p.Arg385=)
|
rs140222511
|
0.00165
|
|
NM_020919.4(ALS2):c.1816-8C>T
|
rs185911369
|
0.00165
|
|
NM_025137.4(SPG11):c.3436A>G (p.Ile1146Val)
|
rs114945876
|
0.00165
|
|
NM_001253852.3(AP4B1):c.755T>C (p.Val252Ala)
|
rs141417436
|
0.00163
|
|
NM_022089.4(ATP13A2):c.3406-14C>T
|
rs139088170
|
0.00163
|
|
NM_001271803.2(REEP2):c.605C>T (p.Pro202Leu)
|
rs111927109
|
0.00161
|
|
NM_001166114.2(PNPLA6):c.2359G>A (p.Val787Met)
|
rs145988230
|
0.00160
|
|
NM_001244008.2(KIF1A):c.3085G>A (p.Val1029Met)
|
rs183359489
|
0.00160
|
|
NM_002693.3(POLG):c.1760C>T (p.Pro587Leu)
|
rs113994096
|
0.00160
|
|
NM_001368809.2(AMPD2):c.1587C>A (p.Thr529=)
|
rs35337955
|
0.00159
|
|
NM_002693.3(POLG):c.752C>T (p.Thr251Ile)
|
rs11394094
|
0.00159
|
|
NM_003119.4(SPG7):c.*432G>A
|
rs545177317
|
0.00158
|
|
NM_001371279.1(REEP1):c.*663G>C
|
rs142894251
|
0.00157
|
|
NM_006612.6(KIF1C):c.2299G>A (p.Gly767Arg)
|
rs118037269
|
0.00157
|
|
NM_014846.4(WASHC5):c.1818C>T (p.Pro606=)
|
rs140063111
|
0.00156
|
|
NM_152415.3(VPS37A):c.125+8G>A
|
rs145945235
|
0.00156
|
|
NM_002156.5(HSPD1):c.561T>C (p.Ser187=)
|
rs141357756
|
0.00155
|
|
NM_002860.4(ALDH18A1):c.2232G>A (p.Ser744=)
|
rs148601288
|
0.00153
|
|
NM_015087.5(SPART):c.*2454A>T
|
rs74868982
|
0.00153
|
|
NM_025137.4(SPG11):c.4744-6T>C
|
rs147550048
|
0.00153
|
|
NM_000533.5(PLP1):c.-31C>T
|
rs2233695
|
0.00152
|
|
NM_024306.5(FA2H):c.1087A>C (p.Thr363Pro)
|
rs200545714
|
0.00152
|
|
NM_015346.4(ZFYVE26):c.*42G>C
|
rs186672463
|
0.00151
|
|
NM_000533.5(PLP1):c.168A>G (p.Gln56=)
|
rs2233697
|
0.00150
|
|
NM_001160148.2(DDHD1):c.1524A>G (p.Gln508=)
|
rs138906273
|
0.00150
|
|
NM_001244008.2(KIF1A):c.4612C>T (p.Arg1538Cys)
|
rs200184619
|
0.00150
|
|
NM_005154.5(USP8):c.634G>A (p.Asp212Asn)
|
rs150245386
|
0.00150
|
|
NM_001368809.2(AMPD2):c.1276-20A>G
|
rs140464475
|
0.00149
|
|
NM_006594.5(AP4B1):c.-77+5G>A
|
rs28364563
|
0.00149
|
|
NM_014363.6(SACS):c.810T>G (p.Phe270Leu)
|
rs116907814
|
0.00149
|
|
NM_015346.4(ZFYVE26):c.4401C>T (p.Pro1467=)
|
rs138543433
|
0.00148
|
|
NM_001244008.2(KIF1A):c.*2738G>C
|
rs71428458
|
0.00147
|
|
NM_015346.4(ZFYVE26):c.677G>A (p.Arg226His)
|
rs147919567
|
0.00147
|
|
NM_025137.4(SPG11):c.7069C>T (p.Leu2357Phe)
|
rs139334167
|
0.00147
|
|
NM_001244008.2(KIF1A):c.*2851G>A
|
rs71428457
|
0.00146
|
|
NM_014946.4(SPAST):c.*819C>T
|
rs186529600
|
0.00146
|
|
NM_001244008.2(KIF1A):c.2445-8C>T
|
rs200705912
|
0.00145
|
|
NM_006612.6(KIF1C):c.732C>G (p.Ile244Met)
|
rs139697370
|
0.00145
|
|
NM_025137.4(SPG11):c.16G>A (p.Gly6Arg)
|
rs200573434
|
0.00145
|
|
NM_002156.5(HSPD1):c.700+8C>T
|
rs185384719
|
0.00143
|
|
NM_014844.5(TECPR2):c.4081+8C>A
|
rs199845217
|
0.00143
|
|
NM_015046.7(SETX):c.7101A>G (p.Gly2367=)
|
rs79233884
|
0.00141
|
|
NM_016630.7(SPG21):c.670-13G>T
|
rs115421171
|
0.00141
|
|
NM_183075.3(CYP2U1):c.850T>C (p.Phe284Leu)
|
rs148477072
|
0.00141
|
|
NM_014844.5(TECPR2):c.623C>T (p.Thr208Ile)
|
rs144870163
|
0.00140
|
|
NM_001166114.2(PNPLA6):c.2385C>T (p.His795=)
|
rs143914980
|
0.00136
|
|
NM_003119.4(SPG7):c.4G>A (p.Ala2Thr)
|
rs535030441
|
0.00136
|
|
NM_021830.5(TWNK):c.639C>T (p.Gly213=)
|
rs11542130
|
0.00135
|
|
NM_024306.5(FA2H):c.*62G>A
|
rs528642838
|
0.00135
|
|
NM_002860.4(ALDH18A1):c.1329C>T (p.Ile443=)
|
rs117709404
|
0.00134
|
|
NM_014363.6(SACS):c.2983G>T (p.Val995Phe)
|
rs142967124
|
0.00134
|
|
NM_014844.5(TECPR2):c.4089G>A (p.Ala1363=)
|
rs139314486
|
0.00134
|
|
NM_014363.6(SACS):c.7528G>A (p.Ala2510Thr)
|
rs111920492
|
0.00131
|
|
NM_001253852.3(AP4B1):c.767C>T (p.Thr256Ile)
|
rs143286419
|
0.00130
|
|
NM_015346.4(ZFYVE26):c.6086T>C (p.Ile2029Thr)
|
rs139163400
|
0.00130
|
|
NM_144599.5(NIPA1):c.*3590A>G
|
rs145202306
|
0.00130
|
|
NM_003900.5(SQSTM1):c.1175C>T (p.Pro392Leu)
|
rs104893941
|
0.00129
|
|
NM_001166114.2(PNPLA6):c.1109C>T (p.Pro370Leu)
|
rs200897068
|
0.00128
|
|
NM_014846.4(WASHC5):c.2485C>T (p.Leu829=)
|
rs80242901
|
0.00128
|
|
NM_022089.4(ATP13A2):c.706-14C>T
|
rs371532404
|
0.00128
|
|
NM_006459.4(ERLIN1):c.243-19T>G
|
rs141220781
|
0.00127
|
|
NM_014846.4(WASHC5):c.655G>A (p.Glu219Lys)
|
rs143719918
|
0.00127
|
|
NM_020738.4(KIDINS220):c.4947C>G (p.Asp1649Glu)
|
rs202094672
|
0.00127
|
|
NM_022089.4(ATP13A2):c.2859G>A (p.Thr953=)
|
rs144557304
|
0.00127
|
|
NM_025137.4(SPG11):c.2887A>C (p.Arg963=)
|
rs150689014
|
0.00127
|
|
NM_144599.5(NIPA1):c.*5185C>T
|
rs569739849
|
0.00127
|
|
NM_001385875.1(ZFYVE27):c.876+15C>T
|
rs202196759
|
0.00124
|
|
NM_001160148.2(DDHD1):c.1191A>G (p.Thr397=)
|
rs139838546
|
0.00123
|
|
NM_015087.5(SPART):c.1172A>G (p.Asp391Gly)
|
rs148833652
|
0.00123
|
|
NM_022089.4(ATP13A2):c.7G>C (p.Ala3Pro)
|
rs549839037
|
0.00122
|
|
NM_183075.3(CYP2U1):c.308C>T (p.Pro103Leu)
|
rs147506864
|
0.00122
|
|
NM_006612.6(KIF1C):c.3027C>T (p.Val1009=)
|
rs141589627
|
0.00121
|
|
NM_016630.7(SPG21):c.538G>A (p.Ala180Thr)
|
rs149251662
|
0.00121
|
|
NM_024306.5(FA2H):c.570C>A (p.Thr190=)
|
rs138892784
|
0.00120
|
|
NM_006070.6(TFG):c.1060C>G (p.Pro354Ala)
|
rs111356679
|
0.00119
|
|
NM_001160148.2(DDHD1):c.733G>A (p.Glu245Lys)
|
rs146006539
|
0.00118
|
|
NM_001253852.3(AP4B1):c.898G>T (p.Val300Leu)
|
rs111785152
|
0.00118
|
|
NM_002156.5(HSPD1):c.603A>G (p.Val201=)
|
rs146598485
|
0.00118
|
|
NM_004984.4(KIF5A):c.2839A>G (p.Thr947Ala)
|
rs150672943
|
0.00117
|
|
NM_006612.6(KIF1C):c.885G>A (p.Ser295=)
|
rs148489739
|
0.00117
|
|
NM_015161.3(ARL6IP1):c.494-9T>A
|
rs187822079
|
0.00117
|
|
NM_006070.6(TFG):c.415+7C>G
|
rs149927288
|
0.00116
|
|
NM_001244008.2(KIF1A):c.*2133T>C
|
rs148679317
|
0.00115
|
|
NM_002361.4(MAG):c.1647G>A (p.Ser549=)
|
rs148183570
|
0.00115
|
|
NM_006612.6(KIF1C):c.2734C>T (p.Arg912Trp)
|
rs202232792
|
0.00115
|
|
NM_014946.4(SPAST):c.415+12G>A
|
rs539075273
|
0.00115
|
|
NM_015346.4(ZFYVE26):c.5799C>T (p.Ser1933=)
|
rs145858625
|
0.00115
|
|
NM_001776.6(ENTPD1):c.1437C>T (p.Phe479=)
|
rs150615255
|
0.00114
|
|
NM_014844.5(TECPR2):c.1644T>G (p.Asn548Lys)
|
rs72700613
|
0.00114
|
|
NM_014844.5(TECPR2):c.762G>A (p.Thr254=)
|
rs138070234
|
0.00114
|
|
NM_014855.3(AP5Z1):c.1062C>T (p.His354=)
|
rs192441133
|
0.00114
|
|
NM_015087.5(SPART):c.75A>G (p.Leu25=)
|
rs148399669
|
0.00113
|
|
NM_015346.4(ZFYVE26):c.7533C>T (p.Ser2511=)
|
rs147494935
|
0.00113
|
|
NM_015346.4(ZFYVE26):c.773G>A (p.Arg258Gln)
|
rs150230201
|
0.00113
|
|
NM_002860.4(ALDH18A1):c.1308G>A (p.Leu436=)
|
rs144816455
|
0.00112
|
|
NM_014855.3(AP5Z1):c.1155G>A (p.Ser385=)
|
rs370926189
|
0.00112
|
|
NM_020919.4(ALS2):c.3741T>G (p.Gly1247=)
|
rs3219166
|
0.00112
|
|
NM_025137.4(SPG11):c.3068A>G (p.Glu1023Gly)
|
rs143145331
|
0.00112
|
|
NM_001385875.1(ZFYVE27):c.*983A>G
|
rs3750611
|
0.00111
|
|
NM_144599.5(NIPA1):c.*4885T>C
|
rs555159081
|
0.00111
|
|
NM_015346.4(ZFYVE26):c.*572G>A
|
rs575157595
|
0.00110
|
|
NM_007347.5(AP4E1):c.1276A>C (p.Ile426Leu)
|
rs148817957
|
0.00109
|
|
NM_020435.4(GJC2):c.1193C>T (p.Thr398Ile)
|
rs140942230
|
0.00109
|
|
NM_001371279.1(REEP1):c.784-16C>T
|
rs182467924
|
0.00108
|
|
NM_004820.5(CYP7B1):c.*49C>T
|
rs8192907
|
0.00108
|
|
NM_006612.6(KIF1C):c.866A>C (p.Gln289Pro)
|
rs146872023
|
0.00108
|
|
NM_014846.4(WASHC5):c.1346G>A (p.Arg449Gln)
|
rs202165114
|
0.00108
|
|
NM_022089.4(ATP13A2):c.2348G>A (p.Arg783Gln)
|
rs137955309
|
0.00108
|
|
NM_001010867.4(IBA57):c.645C>T (p.Asp215=)
|
rs61743941
|
0.00107
|
|
NM_001371279.1(REEP1):c.*2434G>C
|
rs535813756
|
0.00107
|
|
NM_001244008.2(KIF1A):c.5025G>A (p.Pro1675=)
|
rs148176695
|
0.00106
|
|
NM_014855.3(AP5Z1):c.1563G>A (p.Leu521=)
|
rs182411153
|
0.00105
|
|
NM_015046.7(SETX):c.3229G>A (p.Asp1077Asn)
|
rs145097270
|
0.00105
|
|
NM_015346.4(ZFYVE26):c.4734C>T (p.Ile1578=)
|
rs200243306
|
0.00105
|
|
NM_001244008.2(KIF1A):c.3246C>T (p.Ala1082=)
|
rs368682964
|
0.00104
|
|
NM_002361.4(MAG):c.14C>T (p.Thr5Met)
|
rs149262142
|
0.00103
|
|
NM_003119.4(SPG7):c.1045G>A (p.Gly349Ser)
|
rs141659620
|
0.00103
|
|
NM_006612.6(KIF1C):c.1572-3C>T
|
rs141461209
|
0.00103
|
|
NM_025137.4(SPG11):c.5121G>T (p.Glu1707Asp)
|
rs145643238
|
0.00103
|
|
NM_001166114.2(PNPLA6):c.2936+17C>T
|
rs763749201
|
0.00102
|
|
NM_001199753.2(CPT1C):c.1383C>T (p.Asn461=)
|
rs111713532
|
0.00102
|
|
NM_001368809.2(AMPD2):c.855C>T (p.Asp285=)
|
rs114463063
|
0.00101
|
|
NM_004984.4(KIF5A):c.714+8G>A
|
rs199624091
|
0.00101
|
|
NM_004984.4(KIF5A):c.2418G>A (p.Thr806=)
|
rs113155897
|
0.00100
|
|
NM_014846.4(WASHC5):c.2199+5C>G
|
rs149763012
|
0.00100
|
|
NM_020919.4(ALS2):c.1115C>G (p.Pro372Arg)
|
rs190369242
|
0.00100
|
|
NM_001244008.2(KIF1A):c.4875G>A (p.Pro1625=)
|
rs201418175
|
0.00099
|
|
NM_014363.6(SACS):c.4015A>C (p.Ile1339Leu)
|
rs143144795
|
0.00099
|
|
NM_014846.4(WASHC5):c.647C>T (p.Pro216Leu)
|
rs72720524
|
0.00098
|
|
NM_001160148.2(DDHD1):c.156C>T (p.Gly52=)
|
rs367621941
|
0.00096
|
|
NM_002693.3(POLG):c.2209G>C (p.Gly737Arg)
|
rs121918054
|
0.00096
|
|
NM_020435.4(GJC2):c.1234C>T (p.His412Tyr)
|
rs200334298
|
0.00096
|
|
NM_031448.6(C19orf12):c.313G>A (p.Val105Met)
|
rs146492790
|
0.00096
|
|
NM_001128126.3(AP4S1):c.29A>G (p.Lys10Arg)
|
rs147135554
|
0.00095
|
|
NM_001166114.2(PNPLA6):c.315+13C>T
|
rs200676307
|
0.00094
|
|
NM_001244008.2(KIF1A):c.2754T>G (p.Asp918Glu)
|
rs143816642
|
0.00094
|
|
NM_001385875.1(ZFYVE27):c.*1411A>G
|
rs567464767
|
0.00094
|
|
NM_031448.6(C19orf12):c.391A>G (p.Lys131Glu)
|
rs146170087
|
0.00094
|
|
NM_006070.6(TFG):c.258G>T (p.Leu86=)
|
rs150620449
|
0.00093
|
|
NM_015046.7(SETX):c.2124T>C (p.Ser708=)
|
rs139236924
|
0.00093
|
|
NM_020738.4(KIDINS220):c.2569G>A (p.Val857Ile)
|
rs200104720
|
0.00093
|
|
NM_014855.3(AP5Z1):c.558C>T (p.Tyr186=)
|
rs371534878
|
0.00092
|
|
NM_014946.4(SPAST):c.1173+17A>C
|
rs200640366
|
0.00092
|
|
NM_014363.6(SACS):c.1378C>T (p.Leu460Phe)
|
rs145213666
|
0.00091
|
|
NM_014855.3(AP5Z1):c.*766C>T
|
rs549943787
|
0.00091
|
|
NM_022089.4(ATP13A2):c.2836A>T (p.Ile946Phe)
|
rs55708915
|
0.00091
|
|
NM_022089.4(ATP13A2):c.951C>T (p.Cys317=)
|
rs148391179
|
0.00091
|
|
NM_001368809.2(AMPD2):c.1408-12C>T
|
rs189047791
|
0.00090
|
|
NM_020919.4(ALS2):c.3517G>A (p.Glu1173Lys)
|
rs41309046
|
0.00090
|
|
NM_022089.4(ATP13A2):c.841-4A>G
|
rs112549590
|
0.00090
|
|
NM_001166114.2(PNPLA6):c.1485C>T (p.Ile495=)
|
rs199903577
|
0.00089
|
|
NM_003119.4(SPG7):c.1083G>A (p.Ala361=)
|
rs114135540
|
0.00089
|
|
NM_012073.5(CCT5):c.874-16G>T
|
rs80019852
|
0.00089
|
|
NM_001166114.2(PNPLA6):c.1530+11G>A
|
rs184998637
|
0.00087
|
|
NM_001166114.2(PNPLA6):c.3912C>T (p.Asp1304=)
|
rs149871062
|
0.00087
|
|
NM_001368809.2(AMPD2):c.1699-11T>C
|
rs188035528
|
0.00087
|
|
NM_014363.6(SACS):c.12813T>G (p.Pro4271=)
|
rs146376949
|
0.00087
|
|
NM_024306.5(FA2H):c.*813C>T
|
rs568964501
|
0.00087
|
|
NM_144599.5(NIPA1):c.906C>T (p.Ser302=)
|
rs147070285
|
0.00087
|
|
NM_001160148.2(DDHD1):c.941A>G (p.Asn314Ser)
|
rs148836546
|
0.00086
|
|
NM_001385875.1(ZFYVE27):c.*1472C>T
|
rs528359630
|
0.00086
|
|
NM_004722.4(AP4M1):c.59-14C>G
|
rs202164434
|
0.00086
|
|
NM_014846.4(WASHC5):c.1187A>G (p.Lys396Arg)
|
rs142423043
|
0.00086
|
|
NM_025137.4(SPG11):c.7161A>T (p.Gln2387His)
|
rs201918221
|
0.00086
|
|
NM_183075.3(CYP2U1):c.992A>G (p.Asn331Ser)
|
rs148983337
|
0.00086
|
|
NM_001776.6(ENTPD1):c.1020C>T (p.Tyr340=)
|
rs149326648
|
0.00085
|
|
NM_014844.5(TECPR2):c.952-4A>T
|
rs1361744469
|
0.00085
|
|
NM_001371279.1(REEP1):c.529C>T (p.Arg177Trp)
|
rs144874997
|
0.00084
|
|
NM_014363.6(SACS):c.8972G>A (p.Arg2991His)
|
rs192610957
|
0.00084
|
|
NM_014855.3(AP5Z1):c.*561C>T
|
rs538631490
|
0.00084
|
|
NM_014855.3(AP5Z1):c.1434G>A (p.Ala478=)
|
rs75185826
|
0.00084
|
|
NM_001244008.2(KIF1A):c.2117-20C>T
|
rs200852469
|
0.00083
|
|
NM_001351169.2(NT5C2):c.1077A>G (p.Lys359=)
|
rs141391492
|
0.00083
|
|
NM_001371279.1(REEP1):c.*1217A>G
|
rs190070319
|
0.00083
|
|
NM_005154.5(USP8):c.1464G>A (p.Glu488=)
|
rs142653887
|
0.00083
|
|
NM_014846.4(WASHC5):c.1029A>G (p.Gln343=)
|
rs140523354
|
0.00083
|
|
NM_025137.4(SPG11):c.4755A>C (p.Ala1585=)
|
rs144951661
|
0.00083
|
|
NM_004722.4(AP4M1):c.975-16C>G
|
rs202052188
|
0.00082
|
|
NM_006612.6(KIF1C):c.1937+19C>T
|
rs181358276
|
0.00082
|
|
NM_001244008.2(KIF1A):c.*1251C>T
|
rs139653512
|
0.00081
|
|
NM_001351169.2(NT5C2):c.407A>G (p.Gln136Arg)
|
rs12262171
|
0.00081
|
|
NM_020944.3(GBA2):c.1552C>T (p.Arg518Trp)
|
rs142883889
|
0.00081
|
|
NM_022089.4(ATP13A2):c.1309C>G (p.Leu437Val)
|
rs149372969
|
0.00081
|
|
NM_152269.5(MTRFR):c.243C>T (p.Cys81=)
|
rs140411575
|
0.00081
|
|
NM_014844.5(TECPR2):c.1605C>T (p.Asn535=)
|
rs145715326
|
0.00080
|
|
NM_014846.4(WASHC5):c.1605C>T (p.Ile535=)
|
rs143654828
|
0.00080
|
|
NM_015046.7(SETX):c.4982C>G (p.Pro1661Arg)
|
rs146873848
|
0.00080
|
|
NM_014846.4(WASHC5):c.-178T>C
|
rs370705310
|
0.00079
|
|
NM_014846.4(WASHC5):c.732G>A (p.Pro244=)
|
rs146320386
|
0.00079
|
|
NM_014855.3(AP5Z1):c.999C>T (p.Asp333=)
|
rs201196622
|
0.00079
|
|
NM_002693.3(POLG):c.2853C>T (p.Tyr951=)
|
rs41546712
|
0.00078
|
|
NM_014946.4(SPAST):c.-41C>T
|
rs374327295
|
0.00078
|
|
NM_015046.7(SETX):c.192A>G (p.Leu64=)
|
rs117326462
|
0.00078
|
|
NM_015046.7(SETX):c.5949+5G>A
|
rs374656811
|
0.00078
|
|
NM_021830.5(TWNK):c.1596C>T (p.Ile532=)
|
rs146690237
|
0.00078
|
|
NM_152269.5(MTRFR):c.413A>G (p.Lys138Arg)
|
rs147328685
|
0.00078
|
|
NM_002361.4(MAG):c.966C>T (p.Val322=)
|
rs147226896
|
0.00077
|
|
NM_004984.4(KIF5A):c.2199-4G>A
|
rs201366820
|
0.00077
|
|
NM_024989.4(PGAP1):c.331A>G (p.Lys111Glu)
|
rs142320636
|
0.00077
|
|
NM_001244008.2(KIF1A):c.*2720C>T
|
rs542654180
|
0.00076
|
|
NM_001244008.2(KIF1A):c.3749+13G>T
|
rs373544465
|
0.00076
|
|
NM_015046.7(SETX):c.81C>T (p.Ser27=)
|
rs149229231
|
0.00076
|
|
NM_004722.4(AP4M1):c.740G>C (p.Gly247Ala)
|
rs145887263
|
0.00075
|
|
NM_014363.6(SACS):c.2146C>T (p.His716Tyr)
|
rs146852400
|
0.00075
|
|
NM_020944.3(GBA2):c.1358C>A (p.Ala453Glu)
|
rs78197987
|
0.00075
|
|
NM_022089.4(ATP13A2):c.106-8G>A
|
rs200587951
|
0.00075
|
|
NM_024306.5(FA2H):c.338G>A (p.Arg113Gln)
|
rs147632811
|
0.00075
|
|
NM_004984.4(KIF5A):c.2272G>A (p.Glu758Lys)
|
rs140281678
|
0.00074
|
|
NM_001010867.4(IBA57):c.210G>C (p.Leu70=)
|
rs199589485
|
0.00073
|
|
NM_001160148.2(DDHD1):c.2408A>G (p.His803Arg)
|
rs144016130
|
0.00073
|
|
NM_003119.4(SPG7):c.1324+10C>T
|
rs202070075
|
0.00073
|
|
NM_003119.4(SPG7):c.1933T>A (p.Ser645Thr)
|
rs2099104
|
0.00073
|
|
NM_014846.4(WASHC5):c.3181+4C>T
|
rs372154199
|
0.00073
|
|
NM_014855.3(AP5Z1):c.*1576T>G
|
rs539916245
|
0.00073
|
|
NM_014855.3(AP5Z1):c.*648C>T
|
rs577133170
|
0.00073
|
|
NM_014855.3(AP5Z1):c.1312-19C>T
|
rs186277796
|
0.00073
|
|
NM_014855.3(AP5Z1):c.1773C>T (p.Tyr591=)
|
rs372922535
|
0.00073
|
|
NM_014855.3(AP5Z1):c.2131C>G (p.Arg711Gly)
|
rs113184057
|
0.00073
|
|
NM_001010867.4(IBA57):c.11C>T (p.Ala4Val)
|
rs199781237
|
0.00072
|
|
NM_002361.4(MAG):c.1836G>A (p.Thr612=)
|
rs142825621
|
0.00072
|
|
NM_012073.5(CCT5):c.*776T>C
|
rs553660590
|
0.00072
|
|
NM_014855.3(AP5Z1):c.1528C>T (p.Arg510Trp)
|
rs374146548
|
0.00072
|
|
NM_015087.5(SPART):c.363C>T (p.Asp121=)
|
rs149393698
|
0.00072
|
|
NM_022089.4(ATP13A2):c.3529G>A (p.Gly1177Ser)
|
rs547860186
|
0.00072
|
|
NM_144599.5(NIPA1):c.*2070A>C
|
rs746614226
|
0.00072
|
|
NM_001010867.4(IBA57):c.599C>T (p.Thr200Ile)
|
rs149136930
|
0.00071
|
|
NM_001244008.2(KIF1A):c.*3345G>A
|
rs545073996
|
0.00071
|
|
NM_014363.6(SACS):c.1885G>A (p.Ala629Thr)
|
rs149638449
|
0.00071
|
|
NM_014844.5(TECPR2):c.952-18T>G
|
rs564260248
|
0.00071
|
|
NM_014855.3(AP5Z1):c.*2812C>T
|
rs144268420
|
0.00071
|
|
NM_024306.5(FA2H):c.*391C>T
|
rs563533561
|
0.00071
|
|
NM_144599.5(NIPA1):c.*5258G>A
|
rs181610828
|
0.00071
|
|
NM_001371279.1(REEP1):c.231G>A (p.Leu77=)
|
rs139808535
|
0.00070
|
|
NM_002860.4(ALDH18A1):c.2160C>T (p.Phe720=)
|
rs374052426
|
0.00070
|
|
NM_015346.4(ZFYVE26):c.273+13A>G
|
rs150070634
|
0.00070
|
|
NM_022089.4(ATP13A2):c.2942C>T (p.Thr981Met)
|
rs148201608
|
0.00070
|
|
NM_001160148.2(DDHD1):c.882C>T (p.Asp294=)
|
rs147569085
|
0.00069
|
|
NM_012073.5(CCT5):c.166+8del
|
rs773556943
|
0.00069
|
|
NM_144599.5(NIPA1):c.*1724C>G
|
rs61523596
|
0.00069
|
|
NM_001012301.4(ARSI):c.1114G>A (p.Asp372Asn)
|
rs150211860
|
0.00068
|
|
NM_001371279.1(REEP1):c.837G>T (p.Ser279=)
|
rs377637314
|
0.00068
|
|
NM_002693.3(POLG):c.1399G>A (p.Ala467Thr)
|
rs113994095
|
0.00068
|
|
NM_012073.5(CCT5):c.954C>T (p.Asn318=)
|
rs150870419
|
0.00068
|
|
NM_014844.5(TECPR2):c.952-20T>G
|
rs541077629
|
0.00068
|
|
NM_015915.5(ATL1):c.30T>C (p.Ser10=)
|
rs146613929
|
0.00068
|
|
NM_024306.5(FA2H):c.537G>A (p.Leu179=)
|
rs75711361
|
0.00068
|
|
NM_001244008.2(KIF1A):c.883-5C>A
|
rs201408083
|
0.00067
|
|
NM_144599.5(NIPA1):c.*4774G>A
|
rs541776619
|
0.00067
|
|
NM_003119.4(SPG7):c.199C>T (p.Leu67=)
|
rs148315471
|
0.00066
|
|
NM_004722.4(AP4M1):c.333A>C (p.Glu111Asp)
|
rs138437966
|
0.00066
|
|
NM_006612.6(KIF1C):c.940+17C>A
|
rs74985014
|
0.00066
|
|
NM_015346.4(ZFYVE26):c.6019A>G (p.Ser2007Gly)
|
rs150497301
|
0.00066
|
|
NM_024989.4(PGAP1):c.1876T>C (p.Tyr626His)
|
rs150893861
|
0.00066
|
|
NM_025137.4(SPG11):c.4026A>G (p.Gln1342=)
|
rs139887370
|
0.00066
|
|
NM_001166114.2(PNPLA6):c.3252C>T (p.Thr1084=)
|
rs151001271
|
0.00065
|
|
NM_001244008.2(KIF1A):c.*3300C>T
|
rs780369009
|
0.00065
|
|
NM_014844.5(TECPR2):c.1981G>A (p.Glu661Lys)
|
rs144915346
|
0.00065
|
|
NM_014855.3(AP5Z1):c.1936G>A (p.Val646Met)
|
rs200280538
|
0.00065
|
|
NM_014855.3(AP5Z1):c.1964C>T (p.Ser655Leu)
|
rs61750324
|
0.00065
|
|
NM_015915.5(ATL1):c.*450A>G
|
rs183817549
|
0.00065
|
|
NM_152415.3(VPS37A):c.1176A>G (p.Gln392=)
|
rs117336150
|
0.00065
|
|
NM_001166114.2(PNPLA6):c.3495C>T (p.Ser1165=)
|
rs138837774
|
0.00064
|
|
NM_006612.6(KIF1C):c.2470G>A (p.Gly824Arg)
|
rs533724781
|
0.00064
|
|
NM_015346.4(ZFYVE26):c.3051T>C (p.Ala1017=)
|
rs138895639
|
0.00064
|
|
NM_001244008.2(KIF1A):c.3494T>C (p.Ile1165Thr)
|
rs35698242
|
0.00063
|
|
NM_002693.3(POLG):c.1402A>G (p.Asn468Asp)
|
rs145843073
|
0.00063
|
|
NM_014844.5(TECPR2):c.1833A>G (p.Thr611=)
|
rs147716085
|
0.00063
|
|
NM_014855.3(AP5Z1):c.*2624A>G
|
rs1055465900
|
0.00063
|
|
NM_014946.4(SPAST):c.134C>A (p.Pro45Gln)
|
rs121908517
|
0.00063
|
|
NM_016630.7(SPG21):c.63+18A>G
|
rs191335539
|
0.00063
|
|
NM_001199753.2(CPT1C):c.1749C>T (p.Cys583=)
|
rs147638606
|
0.00062
|
|
NM_002693.3(POLG):c.3131T>C (p.Val1044Ala)
|
rs150233690
|
0.00062
|
|
NM_001166114.2(PNPLA6):c.1935C>G (p.Arg645=)
|
rs138023728
|
0.00061
|
|
NM_001244008.2(KIF1A):c.4749C>T (p.Ser1583=)
|
rs371737085
|
0.00061
|
|
NM_002693.3(POLG):c.1386G>A (p.Ser462=)
|
rs62640034
|
0.00061
|
|
NM_003119.4(SPG7):c.1936+13G>A
|
rs147242721
|
0.00061
|
|
NM_003119.4(SPG7):c.2275G>A (p.Ala759Thr)
|
rs140769107
|
0.00061
|
|
NM_014844.5(TECPR2):c.606T>C (p.Ser202=)
|
rs140791062
|
0.00061
|
|
NM_014844.5(TECPR2):c.754C>A (p.Gln252Lys)
|
rs147010113
|
0.00061
|
|
NM_020435.4(GJC2):c.556G>T (p.Gly186Cys)
|
rs201277546
|
0.00061
|
|
NM_020919.4(ALS2):c.2479A>T (p.Thr827Ser)
|
rs202219507
|
0.00061
|
|
NM_144599.5(NIPA1):c.*4690C>A
|
rs554203851
|
0.00061
|
|
NM_004984.4(KIF5A):c.1150G>C (p.Gly384Arg)
|
rs143326964
|
0.00060
|
|
NM_014855.3(AP5Z1):c.1584C>T (p.Gly528=)
|
rs377310579
|
0.00060
|
|
NM_014855.3(AP5Z1):c.849C>T (p.Ala283=)
|
rs572271008
|
0.00060
|
|
NM_015915.5(ATL1):c.1200G>A (p.Lys400=)
|
rs144792471
|
0.00060
|
|
NM_001244008.2(KIF1A):c.618G>A (p.Ala206=)
|
rs137913879
|
0.00059
|
|
NM_001776.6(ENTPD1):c.25G>A (p.Val9Met)
|
rs150772804
|
0.00059
|
|
NM_002156.5(HSPD1):c.18A>G (p.Thr6=)
|
rs79630442
|
0.00059
|
|
NM_015915.5(ATL1):c.669C>T (p.Tyr223=)
|
rs146975855
|
0.00059
|
|
NM_001166114.2(PNPLA6):c.3914-11C>T
|
rs371325894
|
0.00058
|
|
NM_006612.6(KIF1C):c.2578G>A (p.Ala860Thr)
|
rs143671350
|
0.00058
|
|
NM_014855.3(AP5Z1):c.*2068C>A
|
rs561538511
|
0.00058
|
|
NM_015046.7(SETX):c.2479A>G (p.Lys827Glu)
|
rs150532677
|
0.00058
|
|
NM_015346.4(ZFYVE26):c.*394G>A
|
rs192149779
|
0.00058
|
|
NM_020435.4(GJC2):c.1090G>A (p.Ala364Thr)
|
rs534573391
|
0.00058
|
|
NM_025137.4(SPG11):c.1384T>C (p.Cys462Arg)
|
rs139019255
|
0.00058
|
|
NM_001166114.2(PNPLA6):c.1126C>A (p.Arg376=)
|
rs780122556
|
0.00057
|
|
NM_005154.5(USP8):c.659G>A (p.Ser220Asn)
|
rs140695550
|
0.00057
|
|
NM_020919.4(ALS2):c.3206G>A (p.Gly1069Glu)
|
rs200706696
|
0.00057
|
|
NM_025137.4(SPG11):c.1906C>T (p.Leu636=)
|
rs145316065
|
0.00057
|
|
NM_001199753.2(CPT1C):c.291A>C (p.Gln97His)
|
rs150291550
|
0.00056
|
|
NM_001253852.3(AP4B1):c.339-15G>A
|
rs529490243
|
0.00056
|
|
NM_002693.3(POLG):c.1275C>T (p.Ala425=)
|
rs147404477
|
0.00056
|
|
NM_004820.5(CYP7B1):c.94G>T (p.Ala32Ser)
|
rs181854355
|
0.00056
|
|
NM_004984.4(KIF5A):c.1105C>T (p.Arg369Trp)
|
rs140929639
|
0.00056
|
|
NM_006459.4(ERLIN1):c.114-17G>A
|
rs201392792
|
0.00056
|
|
NM_014946.4(SPAST):c.*1476A>G
|
rs760307887
|
0.00056
|
|
NM_014946.4(SPAST):c.683-9C>T
|
rs202209866
|
0.00056
|
|
NM_015346.4(ZFYVE26):c.5401G>A (p.Ala1801Thr)
|
rs138965635
|
0.00056
|
|
NM_015915.5(ATL1):c.631-7T>A
|
rs186528086
|
0.00056
|
|
NM_031448.6(C19orf12):c.343G>A (p.Glu115Lys)
|
rs139422624
|
0.00056
|
|
NM_144599.5(NIPA1):c.*3848C>T
|
rs561650048
|
0.00056
|
|
NM_001371279.1(REEP1):c.*2310C>T
|
rs533698310
|
0.00055
|
|
NM_144599.5(NIPA1):c.*4716G>A
|
rs540912938
|
0.00055
|
|
NM_004820.5(CYP7B1):c.530C>T (p.Thr177Met)
|
rs145152682
|
0.00054
|
|
NM_004984.4(KIF5A):c.2403C>T (p.Phe801=)
|
rs149934878
|
0.00054
|
|
NM_012073.5(CCT5):c.*882C>G
|
rs529512144
|
0.00054
|
|
NM_014363.6(SACS):c.4985C>T (p.Thr1662Met)
|
rs139387396
|
0.00054
|
|
NM_022089.4(ATP13A2):c.106-14C>T
|
rs199706883
|
0.00054
|
|
NM_183075.3(CYP2U1):c.1397G>A (p.Arg466Gln)
|
rs143952943
|
0.00054
|
|
NM_001166114.2(PNPLA6):c.795+3G>A
|
rs375930477
|
0.00053
|
|
NM_001166114.2(PNPLA6):c.924+10C>A
|
rs368958715
|
0.00053
|
|
NM_001244008.2(KIF1A):c.3672G>A (p.Arg1224=)
|
rs371024769
|
0.00053
|
|
NM_001244008.2(KIF1A):c.849C>T (p.Ser283=)
|
rs187442951
|
0.00053
|
|
NM_001253852.3(AP4B1):c.217T>A (p.Cys73Ser)
|
rs552888524
|
0.00053
|
|
NM_001253852.3(AP4B1):c.69A>G (p.Gln23=)
|
rs117872964
|
0.00053
|
|
NM_004722.4(AP4M1):c.930G>A (p.Arg310=)
|
rs141754568
|
0.00053
|
|
NM_006612.6(KIF1C):c.2325C>T (p.Ala775=)
|
rs113398149
|
0.00053
|
|
NM_014846.4(WASHC5):c.316A>G (p.Ile106Val)
|
rs142907217
|
0.00053
|
|
NM_014855.3(AP5Z1):c.588C>T (p.Ser196=)
|
rs146665638
|
0.00053
|
|
NM_014946.4(SPAST):c.*1231C>T
|
rs886055974
|
0.00053
|
|
NM_015046.7(SETX):c.3336T>C (p.Ala1112=)
|
rs150687078
|
0.00053
|
|
NM_015087.5(SPART):c.*2023T>A
|
rs535209329
|
0.00053
|
|
NM_015087.5(SPART):c.*980T>G
|
rs748159557
|
0.00053
|
|
NM_024306.5(FA2H):c.337C>T (p.Arg113Trp)
|
rs141276237
|
0.00053
|
|
NM_007347.5(AP4E1):c.613C>A (p.His205Asn)
|
rs148499164
|
0.00052
|
|
NM_014855.3(AP5Z1):c.970-5C>T
|
rs373671779
|
0.00052
|
|
NM_001199753.2(CPT1C):c.2059C>G (p.Pro687Ala)
|
rs200190780
|
0.00051
|
|
NM_001253852.3(AP4B1):c.151A>C (p.Met51Leu)
|
rs183034705
|
0.00051
|
|
NM_001253852.3(AP4B1):c.1725C>T (p.Ile575=)
|
rs34778731
|
0.00051
|
|
NM_001371279.1(REEP1):c.*906C>T
|
rs140533240
|
0.00051
|
|
NM_001478.5(B4GALNT1):c.728A>G (p.Glu243Gly)
|
rs149670131
|
0.00051
|
|
NM_004820.5(CYP7B1):c.1456C>T (p.Arg486Cys)
|
rs116171274
|
0.00051
|
|
NM_006070.6(TFG):c.457T>G (p.Ser153Ala)
|
rs140466338
|
0.00051
|
|
NM_012073.5(CCT5):c.*1042T>C
|
rs376234447
|
0.00051
|
|
NM_012073.5(CCT5):c.*1087A>T
|
rs190835896
|
0.00051
|
|
NM_014844.5(TECPR2):c.4033G>A (p.Ala1345Thr)
|
rs77170608
|
0.00051
|
|
NM_015046.7(SETX):c.3965C>A (p.Thr1322Asn)
|
rs144900653
|
0.00051
|
|
NM_020944.3(GBA2):c.2220C>A (p.Ser740Arg)
|
rs200894732
|
0.00051
|
|
NM_022089.4(ATP13A2):c.3405+9C>T
|
rs374766933
|
0.00051
|
|
NM_144599.5(NIPA1):c.312G>A (p.Pro104=)
|
rs139372534
|
0.00051
|
|
NM_152415.3(VPS37A):c.1162G>T (p.Ala388Ser)
|
rs146329558
|
0.00051
|
|
NM_001199753.2(CPT1C):c.288A>C (p.Gly96=)
|
rs140411644
|
0.00050
|
|
NM_001253852.3(AP4B1):c.570A>G (p.Glu190=)
|
rs139775124
|
0.00050
|
|
NM_012073.5(CCT5):c.*1294A>G
|
rs534017480
|
0.00050
|
|
NM_022089.4(ATP13A2):c.2331C>T (p.His777=)
|
rs144708504
|
0.00050
|
|
NM_022089.4(ATP13A2):c.2972G>A (p.Arg991Gln)
|
rs145548316
|
0.00050
|
|
NM_025137.4(SPG11):c.7152-14_7152-10dup
|
rs566399432
|
0.00050
|
|
NM_001199753.2(CPT1C):c.2092A>G (p.Asn698Asp)
|
rs143091111
|
0.00049
|
|
NM_001253852.3(AP4B1):c.967T>A (p.Ser323Thr)
|
rs149335605
|
0.00049
|
|
NM_002361.4(MAG):c.753C>G (p.Ala251=)
|
rs149210442
|
0.00049
|
|
NM_012073.5(CCT5):c.*1603G>A
|
rs150385942
|
0.00049
|
|
NM_025137.4(SPG11):c.763A>G (p.Lys255Glu)
|
rs139091750
|
0.00049
|
|
NM_001122955.4(BSCL2):c.1100C>T (p.Pro367Leu)
|
rs144245125
|
0.00048
|
|
NM_001244008.2(KIF1A):c.138G>A (p.Thr46=)
|
rs192880105
|
0.00048
|
|
NM_001244008.2(KIF1A):c.4781C>T (p.Ser1594Leu)
|
rs201825284
|
0.00048
|
|
NM_001368809.2(AMPD2):c.270G>T (p.Pro90=)
|
rs139217835
|
0.00048
|
|
NM_001776.6(ENTPD1):c.1333G>C (p.Gly445Arg)
|
rs145994698
|
0.00048
|
|
NM_002361.4(MAG):c.771G>A (p.Val257=)
|
rs143350237
|
0.00048
|
|
NM_014844.5(TECPR2):c.3643G>A (p.Ala1215Thr)
|
rs114136452
|
0.00048
|
|
NM_001199753.2(CPT1C):c.2133+12T>G
|
rs767437674
|
0.00047
|
|
NM_001244008.2(KIF1A):c.*3309C>T
|
rs886055828
|
0.00047
|
|
NM_001385875.1(ZFYVE27):c.*679A>G
|
rs556909401
|
0.00047
|
|
NM_003119.4(SPG7):c.1593C>T (p.His531=)
|
rs61747706
|
0.00047
|
|
NM_004722.4(AP4M1):c.1079C>A (p.Ala360Asp)
|
rs145979929
|
0.00047
|
|
NM_014363.6(SACS):c.10443C>G (p.Leu3481=)
|
rs144087359
|
0.00047
|
|
NM_014855.3(AP5Z1):c.1566G>T (p.Leu522=)
|
rs563984280
|
0.00047
|
|
NM_014946.4(SPAST):c.243C>G (p.Arg81=)
|
rs146956762
|
0.00047
|
|
NM_020944.3(GBA2):c.1688-8T>C
|
rs754147042
|
0.00047
|
|
NM_001166114.2(PNPLA6):c.171A>C (p.Gly57=)
|
rs140825810
|
0.00046
|
|
NM_004722.4(AP4M1):c.544-6T>G
|
rs372511561
|
0.00046
|
|
NM_006517.5(SLC16A2):c.1596C>T (p.Ser532=)
|
rs199904356
|
0.00046
|
|
NM_014855.3(AP5Z1):c.*683G>A
|
rs763158624
|
0.00046
|
|
NM_014855.3(AP5Z1):c.780C>A (p.Thr260=)
|
rs377507553
|
0.00046
|
|
NM_014946.4(SPAST):c.1493+6G>A
|
rs115659052
|
0.00046
|
|
NM_024989.4(PGAP1):c.2647A>G (p.Thr883Ala)
|
rs139107571
|
0.00046
|
|
NM_025137.4(SPG11):c.2874A>C (p.Glu958Asp)
|
rs140164220
|
0.00046
|
|
NM_001244008.2(KIF1A):c.3330G>A (p.Ala1110=)
|
rs200149062
|
0.00045
|
|
NM_001368809.2(AMPD2):c.1992C>T (p.Val664=)
|
rs143163487
|
0.00045
|
|
NM_005154.5(USP8):c.1675C>T (p.His559Tyr)
|
rs192977674
|
0.00045
|
|
NM_015346.4(ZFYVE26):c.5260G>A (p.Ala1754Thr)
|
rs146968463
|
0.00045
|
|
NM_021830.5(TWNK):c.384C>T (p.Ser128=)
|
rs148234280
|
0.00045
|
|
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_001166114.2(PNPLA6):c.3914-8G>A
|
rs374861157
|
0.00044
|
|
NM_001244008.2(KIF1A):c.*2794C>T
|
rs557055784
|
0.00044
|
|
NM_001244008.2(KIF1A):c.*3410C>T
|
rs146087816
|
0.00044
|
|
NM_001244008.2(KIF1A):c.1341+7G>T
|
rs184947396
|
0.00044
|
|
NM_014855.3(AP5Z1):c.1043C>T (p.Ser348Phe)
|
rs547137141
|
0.00044
|
|
NM_014855.3(AP5Z1):c.584A>G (p.His195Arg)
|
rs117659667
|
0.00044
|
|
NM_016630.7(SPG21):c.846G>A (p.Ala282=)
|
rs146986015
|
0.00044
|
|
NM_022089.4(ATP13A2):c.3235+20C>T
|
rs376475762
|
0.00044
|
|
NM_022089.4(ATP13A2):c.746C>T (p.Ala249Val)
|
rs145515028
|
0.00044
|
|
NM_001122955.4(BSCL2):c.1031C>T (p.Ser344Phe)
|
rs140676897
|
0.00043
|
|
NM_004722.4(AP4M1):c.407C>T (p.Thr136Met)
|
rs138131967
|
0.00043
|
|
NM_005154.5(USP8):c.250-15T>C
|
rs369842951
|
0.00043
|
|
NM_014363.6(SACS):c.3637T>C (p.Leu1213=)
|
rs577638741
|
0.00043
|
|
NM_014946.4(SPAST):c.*2898C>T
|
rs886055983
|
0.00043
|
|
NM_015346.4(ZFYVE26):c.30T>G (p.Ala10=)
|
rs141905183
|
0.00043
|
|
NM_022089.4(ATP13A2):c.2160G>T (p.Gly720=)
|
rs61999317
|
0.00043
|
|
NM_025137.4(SPG11):c.7000-20T>C
|
rs181702715
|
0.00043
|
|
NM_002860.4(ALDH18A1):c.1314C>T (p.Ile438=)
|
rs150526956
|
0.00042
|
|
NM_002860.4(ALDH18A1):c.1381G>A (p.Ala461Thr)
|
rs150429857
|
0.00042
|
|
NM_014946.4(SPAST):c.*382G>A
|
rs570596299
|
0.00042
|
|
NM_020944.3(GBA2):c.2201G>A (p.Arg734His)
|
rs142621039
|
0.00042
|
|
NM_025137.4(SPG11):c.6360C>T (p.Ile2120=)
|
rs368605117
|
0.00042
|
|
NM_001166114.2(PNPLA6):c.2854G>C (p.Asp952His)
|
rs10411650
|
0.00041
|
|
NM_001371279.1(REEP1):c.844G>A (p.Glu282Lys)
|
rs189652973
|
0.00041
|
|
NM_004722.4(AP4M1):c.777G>A (p.Val259=)
|
rs144253083
|
0.00041
|
|
NM_012073.4(CCT5):c.-125A>G
|
rs552002776
|
0.00041
|
|
NM_014844.5(TECPR2):c.3465C>A (p.Ser1155Arg)
|
rs75004775
|
0.00041
|
|
NM_014946.4(SPAST):c.*1279G>C
|
rs748353637
|
0.00041
|
|
NM_014946.4(SPAST):c.*2583C>T
|
rs138968325
|
0.00041
|
|
NM_015915.5(ATL1):c.408T>C (p.Asp136=)
|
rs76375909
|
0.00041
|
|
NM_024989.4(PGAP1):c.2734C>T (p.Pro912Ser)
|
rs147312612
|
0.00041
|
|
NM_001010867.4(IBA57):c.780C>T (p.Tyr260=)
|
rs202126055
|
0.00040
|
|
NM_002361.4(MAG):c.439C>G (p.Pro147Ala)
|
rs202205105
|
0.00040
|
|
NM_006459.4(ERLIN1):c.195+3G>A
|
rs201208911
|
0.00040
|
|
NM_012073.5(CCT5):c.*841T>C
|
rs180679435
|
0.00040
|
|
NM_012073.5(CCT5):c.440A>G (p.His147Arg)
|
rs118203986
|
0.00040
|
|
NM_014363.6(SACS):c.2602A>G (p.Ile868Val)
|
rs142284018
|
0.00040
|
|
NM_025137.4(SPG11):c.1270C>A (p.Pro424Thr)
|
rs141596008
|
0.00040
|
|
NM_000533.5(PLP1):c.549C>A (p.Thr183=)
|
rs184166250
|
0.00039
|
|
NM_001160148.2(DDHD1):c.1362T>C (p.Pro454=)
|
rs147452605
|
0.00039
|
|
NM_001166114.2(PNPLA6):c.3003C>T (p.Gly1001=)
|
rs145459571
|
0.00039
|
|
NM_001368809.2(AMPD2):c.1081-8C>A
|
rs145268448
|
0.00039
|
|
NM_004990.4(MARS1):c.-18C>T
|
rs201535531
|
0.00039
|
|
NM_014846.4(WASHC5):c.*78A>G
|
rs188863489
|
0.00039
|
|
NM_014855.3(AP5Z1):c.*2983C>T
|
rs181118091
|
0.00039
|
|
NM_014855.3(AP5Z1):c.1595+4C>T
|
rs141607676
|
0.00039
|
|
NM_015046.7(SETX):c.3345C>G (p.Ala1115=)
|
rs142020270
|
0.00039
|
|
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_015087.5(SPART):c.*1456G>A
|
rs562306593
|
0.00039
|
|
NM_015214.3(DDHD2):c.1348A>G (p.Ile450Val)
|
rs541849444
|
0.00039
|
|
NM_022089.4(ATP13A2):c.3087C>T (p.Phe1029=)
|
rs184878897
|
0.00039
|
|
NM_025137.4(SPG11):c.3486T>C (p.Phe1162=)
|
rs139532029
|
0.00039
|
|
NM_001128126.3(AP4S1):c.306+4191A>G
|
rs200969079
|
0.00038
|
|
NM_003119.4(SPG7):c.474C>T (p.Leu158=)
|
rs139742860
|
0.00038
|
|
NM_004984.4(KIF5A):c.2412C>T (p.Asp804=)
|
rs145062338
|
0.00038
|
|
NM_006612.6(KIF1C):c.1962C>T (p.Tyr654=)
|
rs113561684
|
0.00038
|
|
NM_014844.5(TECPR2):c.1140G>A (p.Ala380=)
|
rs139710994
|
0.00038
|
|
NM_014844.5(TECPR2):c.2330G>A (p.Ser777Asn)
|
rs144849839
|
0.00038
|
|
NM_014846.4(WASHC5):c.2668-19C>T
|
rs368313044
|
0.00038
|
|
NM_014855.3(AP5Z1):c.1806-15C>T
|
rs201620155
|
0.00038
|
|
NM_014855.3(AP5Z1):c.313C>T (p.His105Tyr)
|
rs200490093
|
0.00038
|
|
NM_014855.3(AP5Z1):c.874C>T (p.Arg292Trp)
|
rs199760184
|
0.00038
|
|
NM_001244008.2(KIF1A):c.430-14G>A
|
rs201456681
|
0.00037
|
|
NM_001244008.2(KIF1A):c.4778C>T (p.Pro1593Leu)
|
rs200902828
|
0.00037
|
|
NM_001253852.3(AP4B1):c.803A>G (p.His268Arg)
|
rs201047107
|
0.00037
|
|
NM_001253852.3(AP4B1):c.912G>A (p.Leu304=)
|
rs146053295
|
0.00037
|
|
NM_001385875.1(ZFYVE27):c.*1534G>A
|
rs371813619
|
0.00037
|
|
NM_006612.6(KIF1C):c.884C>T (p.Ser295Leu)
|
rs145650252
|
0.00037
|
|
NM_022089.4(ATP13A2):c.2020G>A (p.Ala674Thr)
|
rs143834546
|
0.00037
|
|
NM_024989.4(PGAP1):c.927+4T>C
|
rs201984003
|
0.00037
|
|
NM_001166114.2(PNPLA6):c.162C>T (p.Ile54=)
|
rs200310048
|
0.00036
|
|
NM_001244008.2(KIF1A):c.405C>T (p.Asn135=)
|
rs151212200
|
0.00036
|
|
NM_001253852.3(AP4B1):c.389G>A (p.Arg130Gln)
|
rs147043117
|
0.00036
|
|
NM_002361.4(MAG):c.1152C>T (p.Pro384=)
|
rs78408471
|
0.00036
|
|
NM_006459.4(ERLIN1):c.67G>A (p.Ala23Thr)
|
rs140620682
|
0.00036
|
|
NM_007215.4(POLG2):c.315G>A (p.Glu105=)
|
rs142121495
|
0.00036
|
|
NM_012073.5(CCT5):c.895C>G (p.Leu299Val)
|
rs141509761
|
0.00036
|
|
NM_014844.5(TECPR2):c.3282G>A (p.Lys1094=)
|
rs199835341
|
0.00036
|
|
NM_014844.5(TECPR2):c.516A>G (p.Pro172=)
|
rs142385149
|
0.00036
|
|
NM_014855.3(AP5Z1):c.675G>C (p.Val225=)
|
rs374167435
|
0.00036
|
|
NM_014946.4(SPAST):c.502+18T>C
|
rs201013227
|
0.00036
|
|
NM_015046.7(SETX):c.5283A>G (p.Gln1761=)
|
rs139063885
|
0.00036
|
|
NM_015214.3(DDHD2):c.1130C>T (p.Ser377Leu)
|
rs145943165
|
0.00036
|
|
NM_015214.3(DDHD2):c.864A>C (p.Ile288=)
|
rs148904419
|
0.00036
|
|
NM_015346.4(ZFYVE26):c.6649C>G (p.Leu2217Val)
|
rs149104493
|
0.00036
|
|
NM_020919.4(ALS2):c.1627G>A (p.Asp543Asn)
|
rs201161419
|
0.00036
|
|
NM_001278116.2(L1CAM):c.2211G>A (p.Pro737=)
|
rs146782397
|
0.00035
|
|
NM_001385875.1(ZFYVE27):c.522G>A (p.Leu174=)
|
rs143515214
|
0.00035
|
|
NM_002156.5(HSPD1):c.551A>G (p.Asn184Ser)
|
rs67967266
|
0.00035
|
|
NM_014363.6(SACS):c.3144A>G (p.Val1048=)
|
rs3751369
|
0.00035
|
|
NM_014844.5(TECPR2):c.2847G>A (p.Ala949=)
|
rs145452704
|
0.00035
|
|
NM_014946.4(SPAST):c.1362G>A (p.Glu454=)
|
rs138849656
|
0.00035
|
|
NM_022089.4(ATP13A2):c.1039+6C>T
|
rs565724504
|
0.00035
|
|
NM_022089.4(ATP13A2):c.1203C>T (p.Cys401=)
|
rs148026506
|
0.00035
|
|
NM_001010867.4(IBA57):c.341+9G>A
|
rs370043210
|
0.00034
|
|
NM_001010867.4(IBA57):c.574G>A (p.Ala192Thr)
|
rs140163897
|
0.00034
|
|
NM_001244008.2(KIF1A):c.3468C>T (p.Ile1156=)
|
rs201981364
|
0.00034
|
|
NM_001368809.2(AMPD2):c.1699-12G>T
|
rs372637186
|
0.00034
|
|
NM_001368809.2(AMPD2):c.633C>G (p.Thr211=)
|
rs141818976
|
0.00034
|
|
NM_004984.4(KIF5A):c.*317C>T
|
rs886049701
|
0.00034
|
|
NM_004984.4(KIF5A):c.471C>T (p.His157=)
|
rs143178113
|
0.00034
|
|
NM_007347.5(AP4E1):c.1852G>A (p.Val618Ile)
|
rs142215198
|
0.00034
|
|
NM_015046.7(SETX):c.4433C>A (p.Ala1478Glu)
|
rs143661911
|
0.00034
|
|
NM_015214.3(DDHD2):c.1720+6T>A
|
rs189360898
|
0.00034
|
|
NM_015346.4(ZFYVE26):c.624T>C (p.Asp208=)
|
rs140128583
|
0.00034
|
|
NM_022089.4(ATP13A2):c.1926G>A (p.Ala642=)
|
rs200916673
|
0.00034
|
|
NM_022089.4(ATP13A2):c.2263C>G (p.Gln755Glu)
|
rs200924194
|
0.00034
|
|
NM_022089.4(ATP13A2):c.3314C>T (p.Pro1105Leu)
|
rs201756175
|
0.00034
|
|
NM_025137.4(SPG11):c.4413T>C (p.Ser1471=)
|
rs1308576264
|
0.00034
|
|
NM_000533.5(PLP1):c.763-20C>A
|
rs201103416
|
0.00033
|
|
NM_001368809.2(AMPD2):c.1080+15C>T
|
rs183445342
|
0.00033
|
|
NM_002693.3(POLG):c.2890C>T (p.Arg964Cys)
|
rs201477273
|
0.00033
|
|
NM_004733.4(SLC33A1):c.370C>T (p.Leu124Phe)
|
rs141818342
|
0.00033
|
|
NM_014855.3(AP5Z1):c.*373G>A
|
rs575299983
|
0.00033
|
|
NM_015346.4(ZFYVE26):c.2481C>A (p.Pro827=)
|
rs139283212
|
0.00033
|
|
NM_021830.5(TWNK):c.241C>G (p.Leu81Val)
|
rs145068570
|
0.00033
|
|
NM_001244008.2(KIF1A):c.*3488G>A
|
rs779053001
|
0.00032
|
|
NM_001244008.2(KIF1A):c.1437C>T (p.Ala479=)
|
rs375180690
|
0.00032
|
|
NM_001244008.2(KIF1A):c.2079G>A (p.Pro693=)
|
rs201961762
|
0.00032
|
|
NM_001278116.2(L1CAM):c.2657G>A (p.Arg886Gln)
|
rs142603269
|
0.00032
|
|
NM_001368809.2(AMPD2):c.532-18G>A
|
rs41314005
|
0.00032
|
|
NM_002361.4(MAG):c.855C>T (p.Ala285=)
|
rs199720385
|
0.00032
|
|
NM_002860.4(ALDH18A1):c.492C>T (p.Ala164=)
|
rs150472102
|
0.00032
|
|
NM_002860.4(ALDH18A1):c.933+13T>C
|
rs201520042
|
0.00032
|
|
NM_006517.5(SLC16A2):c.412C>G (p.Gln138Glu)
|
rs145061343
|
0.00032
|
|
NM_014844.5(TECPR2):c.1546G>A (p.Val516Met)
|
rs141697267
|
0.00032
|
|
NM_014844.5(TECPR2):c.3386C>A (p.Ser1129Tyr)
|
rs139247564
|
0.00032
|
|
NM_014855.3(AP5Z1):c.*1736C>G
|
rs781023359
|
0.00032
|
|
NM_015346.4(ZFYVE26):c.606G>C (p.Arg202=)
|
rs187303187
|
0.00032
|
|
NM_015915.5(ATL1):c.1329T>C (p.His443=)
|
rs146164574
|
0.00032
|
|
NM_025137.4(SPG11):c.257+13G>A
|
rs201936649
|
0.00032
|
|
NM_025137.4(SPG11):c.257+15A>C
|
rs538988623
|
0.00032
|
|
NM_001199753.2(CPT1C):c.453+4T>C
|
rs372026933
|
0.00031
|
|
NM_001244008.2(KIF1A):c.4581C>T (p.Ser1527=)
|
rs373703367
|
0.00031
|
|
NM_001253852.3(AP4B1):c.2004C>T (p.Thr668=)
|
rs143354033
|
0.00031
|
|
NM_001368809.2(AMPD2):c.2124C>T (p.Ser708=)
|
rs147146700
|
0.00031
|
|
NM_002361.4(MAG):c.18A>G (p.Ala6=)
|
rs147354231
|
0.00031
|
|
NM_003119.4(SPG7):c.318G>A (p.Leu106=)
|
rs115601365
|
0.00031
|
|
NM_004181.5(UCHL1):c.609A>G (p.Glu203=)
|
rs147661219
|
0.00031
|
|
NM_005154.5(USP8):c.1434A>G (p.Gln478=)
|
rs754921595
|
0.00031
|
|
NM_006612.6(KIF1C):c.1136C>G (p.Ala379Gly)
|
rs79290524
|
0.00031
|
|
NM_006612.6(KIF1C):c.3049G>A (p.Ala1017Thr)
|
rs185185243
|
0.00031
|
|
NM_014363.6(SACS):c.2580A>G (p.Gln860=)
|
rs41283958
|
0.00031
|
|
NM_014844.5(TECPR2):c.3294C>T (p.His1098=)
|
rs144141409
|
0.00031
|
|
NM_014844.5(TECPR2):c.951+15G>T
|
rs12587242
|
0.00031
|
|
NM_014846.4(WASHC5):c.1945A>G (p.Ile649Val)
|
rs774897141
|
0.00031
|
|
NM_014855.3(AP5Z1):c.*1866C>A
|
rs748344258
|
0.00031
|
|
NM_014855.3(AP5Z1):c.*2167G>A
|
rs182688215
|
0.00031
|
|
NM_014946.4(SPAST):c.*2322T>G
|
rs530517245
|
0.00031
|
|
NM_014946.4(SPAST):c.*2904C>T
|
rs534543205
|
0.00031
|
|
NM_014946.4(SPAST):c.1735A>C (p.Asn579His)
|
rs144594804
|
0.00031
|
|
NM_016630.7(SPG21):c.771A>C (p.Pro257=)
|
rs141785149
|
0.00031
|
|
NM_022089.4(ATP13A2):c.1128C>T (p.Cys376=)
|
rs148970081
|
0.00031
|
|
NM_022089.4(ATP13A2):c.3207G>A (p.Ala1069=)
|
rs137877665
|
0.00031
|
|
NM_144599.5(NIPA1):c.*2079T>G
|
rs886050999
|
0.00031
|
|
NM_152269.5(MTRFR):c.54G>A (p.Pro18=)
|
rs188310109
|
0.00031
|
|
NM_001278116.2(L1CAM):c.1547-4T>A
|
rs200148275
|
0.00030
|
|
NM_006612.6(KIF1C):c.1165+3C>T
|
rs199890307
|
0.00030
|
|
NM_014855.3(AP5Z1):c.2400G>A (p.Arg800=)
|
rs368571200
|
0.00030
|
|
NM_015375.3(DSTYK):c.654+1G>A
|
rs201091809
|
0.00030
|
|
NM_022089.4(ATP13A2):c.2619G>C (p.Val873=)
|
rs199994961
|
0.00030
|
|
NM_144599.5(NIPA1):c.21A>G (p.Ala7=)
|
rs749414711
|
0.00030
|
|
NM_001160148.2(DDHD1):c.1008A>G (p.Lys336=)
|
rs143307366
|
0.00029
|
|
NM_001160148.2(DDHD1):c.204G>A (p.Ala68=)
|
rs139727469
|
0.00029
|
|
NM_001166114.2(PNPLA6):c.*139G>A
|
rs534152961
|
0.00029
|
|
NM_001199753.2(CPT1C):c.1017C>T (p.Gly339=)
|
rs199675613
|
0.00029
|
|
NM_001199753.2(CPT1C):c.975C>T (p.Arg325=)
|
rs148461300
|
0.00029
|
|
NM_001244008.2(KIF1A):c.720+5G>A
|
rs377502239
|
0.00029
|
|
NM_001385875.1(ZFYVE27):c.*582G>C
|
rs547156381
|
0.00029
|
|
NM_004722.4(AP4M1):c.960C>T (p.Asp320=)
|
rs371162812
|
0.00029
|
|
NM_005154.5(USP8):c.1365C>T (p.Leu455=)
|
rs139912757
|
0.00029
|
|
NM_006612.6(KIF1C):c.3198A>G (p.Gln1066=)
|
rs143972053
|
0.00029
|
|
NM_007347.5(AP4E1):c.3351C>T (p.Ser1117=)
|
rs371690344
|
0.00029
|
|
NM_014844.5(TECPR2):c.2021C>T (p.Pro674Leu)
|
rs149022686
|
0.00029
|
|
NM_014844.5(TECPR2):c.2323G>A (p.Gly775Arg)
|
rs138725425
|
0.00029
|
|
NM_014855.3(AP5Z1):c.671C>T (p.Thr224Met)
|
rs201862383
|
0.00029
|
|
NM_014946.4(SPAST):c.289C>A (p.Pro97Thr)
|
rs372005558
|
0.00029
|
|
NM_015214.3(DDHD2):c.558G>A (p.Thr186=)
|
rs149994413
|
0.00029
|
|
NM_015346.4(ZFYVE26):c.*591C>T
|
rs538229705
|
0.00029
|
|
NM_022089.4(ATP13A2):c.1244G>A (p.Arg415Gln)
|
rs190746040
|
0.00029
|
|
NM_022089.4(ATP13A2):c.1352G>A (p.Arg451Gln)
|
rs138546275
|
0.00029
|
|
NM_025137.4(SPG11):c.1775C>T (p.Ser592Leu)
|
rs373796566
|
0.00029
|
|
NM_144599.5(NIPA1):c.*3400C>T
|
rs577663387
|
0.00029
|
|
NM_152415.3(VPS37A):c.700C>A (p.Leu234Ile)
|
rs150912414
|
0.00029
|
|
NM_001010867.4(IBA57):c.680-14T>G
|
rs375942905
|
0.00028
|
|
NM_001160148.2(DDHD1):c.100T>G (p.Phe34Val)
|
rs771285016
|
0.00028
|
|
NM_001253852.3(AP4B1):c.1244G>A (p.Cys415Tyr)
|
rs200590674
|
0.00028
|
|
NM_001271803.2(REEP2):c.159G>A (p.Thr53=)
|
rs138667579
|
0.00028
|
|
NM_002693.3(POLG):c.2542G>A (p.Gly848Ser)
|
rs113994098
|
0.00028
|
|
NM_014846.4(WASHC5):c.12T>C (p.Phe4=)
|
rs202120400
|
0.00028
|
|
NM_014855.3(AP5Z1):c.*843G>A
|
rs537779263
|
0.00028
|
|
NM_144599.5(NIPA1):c.*2685T>C
|
rs886050994
|
0.00028
|
|
NM_001010867.4(IBA57):c.23G>A (p.Arg8Gln)
|
rs765179856
|
0.00027
|
|
NM_001166114.2(PNPLA6):c.316-18C>T
|
rs530792429
|
0.00027
|
|
NM_001199753.2(CPT1C):c.321C>T (p.Ala107=)
|
rs145821626
|
0.00027
|
|
NM_001244008.2(KIF1A):c.1578-15G>T
|
rs199649700
|
0.00027
|
|
NM_001278116.2(L1CAM):c.113C>T (p.Thr38Met)
|
rs201151358
|
0.00027
|
|
NM_001776.6(ENTPD1):c.1075-15G>A
|
rs373805682
|
0.00027
|
|
NM_003119.4(SPG7):c.244C>G (p.Gln82Glu)
|
rs146115797
|
0.00027
|
|
NM_006612.6(KIF1C):c.1571+6G>A
|
rs200438845
|
0.00027
|
|
NM_014855.3(AP5Z1):c.*2228C>T
|
rs115179819
|
0.00027
|
|
NM_014855.3(AP5Z1):c.490A>G (p.Ser164Gly)
|
rs202169962
|
0.00027
|
|
NM_015214.3(DDHD2):c.1982A>G (p.Tyr661Cys)
|
rs201656753
|
0.00027
|
|
NM_015346.4(ZFYVE26):c.*1017T>G
|
rs886050646
|
0.00027
|
|
NM_020944.3(GBA2):c.1395G>A (p.Pro465=)
|
rs149501146
|
0.00027
|
|
NM_024306.5(FA2H):c.540G>T (p.Val180=)
|
rs150423523
|
0.00027
|
|
NM_025137.4(SPG11):c.6625C>T (p.Arg2209Cys)
|
rs374057859
|
0.00027
|
|
NM_001166114.2(PNPLA6):c.1536C>T (p.Pro512=)
|
rs140389368
|
0.00026
|
|
NM_001166114.2(PNPLA6):c.3699+17G>A
|
rs141831508
|
0.00026
|
|
NM_001244008.2(KIF1A):c.*2505G>C
|
rs563883502
|
0.00026
|
|
NM_001244008.2(KIF1A):c.4927G>A (p.Asp1643Asn)
|
rs200141437
|
0.00026
|
|
NM_001244008.2(KIF1A):c.4985G>A (p.Arg1662His)
|
rs199557318
|
0.00026
|
|
NM_001244008.2(KIF1A):c.5168C>T (p.Ala1723Val)
|
rs199804623
|
0.00026
|
|
NM_001368809.2(AMPD2):c.1192C>T (p.Arg398Cys)
|
rs570605098
|
0.00026
|
|
NM_003119.4(SPG7):c.1937-9G>A
|
rs371739639
|
0.00026
|
|
NM_004722.4(AP4M1):c.561T>G (p.Val187=)
|
rs775529957
|
0.00026
|
|
NM_005186.4(CAPN1):c.221G>A (p.Gly74Asp)
|
rs201318945
|
0.00026
|
|
NM_006612.6(KIF1C):c.3005C>T (p.Pro1002Leu)
|
rs143987985
|
0.00026
|
|
NM_014363.6(SACS):c.12438G>A (p.Ser4146=)
|
rs150959878
|
0.00026
|
|
NM_014844.5(TECPR2):c.2449G>A (p.Val817Met)
|
rs199738023
|
0.00026
|
|
NM_014844.5(TECPR2):c.978C>T (p.Ser326=)
|
rs142082203
|
0.00026
|
|
NM_014855.3(AP5Z1):c.1284C>G (p.Leu428=)
|
rs368076671
|
0.00026
|
|
NM_015087.5(SPART):c.-118C>A
|
rs528288894
|
0.00026
|
|
NM_020919.4(ALS2):c.1677A>G (p.Lys559=)
|
rs367640165
|
0.00026
|
|
NM_021830.5(TWNK):c.689G>T (p.Gly230Val)
|
rs142978552
|
0.00026
|
|
NM_022089.4(ATP13A2):c.2610-9T>C
|
rs376189607
|
0.00026
|
|
NM_025137.4(SPG11):c.2445-20A>T
|
rs545137154
|
0.00026
|
|
NM_025137.4(SPG11):c.2560G>A (p.Ala854Thr)
|
rs144804884
|
0.00026
|
|
NM_025137.4(SPG11):c.395G>A (p.Ser132Asn)
|
rs145132275
|
0.00026
|
|
NM_025137.4(SPG11):c.6284T>C (p.Leu2095Ser)
|
rs185665930
|
0.00026
|
|
NM_058004.4(PI4KA):c.2797A>G (p.Met933Val)
|
rs142927362
|
0.00026
|
|
NM_144599.5(NIPA1):c.*11G>C
|
rs188393827
|
0.00026
|
|
NM_001010867.4(IBA57):c.279C>G (p.Arg93=)
|
rs750061256
|
0.00025
|
|
NM_005619.5(RTN2):c.1607C>T (p.Ala536Val)
|
rs140567426
|
0.00025
|
|
NM_014855.3(AP5Z1):c.*1738C>T
|
rs768610280
|
0.00025
|
|
NM_014855.3(AP5Z1):c.2232G>A (p.Ala744=)
|
rs534516510
|
0.00025
|
|
NM_022089.4(ATP13A2):c.2404G>A (p.Gly802Ser)
|
rs752487771
|
0.00025
|
|
NM_022089.4(ATP13A2):c.472G>A (p.Gly158Arg)
|
rs113643181
|
0.00025
|
|
NM_025137.4(SPG11):c.3988C>G (p.Gln1330Glu)
|
rs375363608
|
0.00025
|
|
NM_025137.4(SPG11):c.6892A>G (p.Ile2298Val)
|
rs147962000
|
0.00025
|
|
NM_001122955.4(BSCL2):c.624G>A (p.Ser208=)
|
rs138532996
|
0.00024
|
|
NM_001166114.2(PNPLA6):c.3699+9G>A
|
rs201144113
|
0.00024
|
|
NM_001199753.2(CPT1C):c.196T>G (p.Phe66Val)
|
rs201119466
|
0.00024
|
|
NM_001244008.2(KIF1A):c.4744-5C>T
|
rs117815481
|
0.00024
|
|
NM_001368809.2(AMPD2):c.1326T>C (p.Pro442=)
|
rs371970036
|
0.00024
|
|
NM_002156.5(HSPD1):c.732T>G (p.Val244=)
|
rs142108846
|
0.00024
|
|
NM_002860.4(ALDH18A1):c.1153-13A>G
|
rs370680325
|
0.00024
|
|
NM_002860.4(ALDH18A1):c.76G>A (p.Val26Ile)
|
rs200242907
|
0.00024
|
|
NM_003119.4(SPG7):c.1267G>A (p.Gly423Ser)
|
rs201543030
|
0.00024
|
|
NM_003119.4(SPG7):c.1359G>A (p.Ala453=)
|
rs115448299
|
0.00024
|
|
NM_003119.4(SPG7):c.822G>C (p.Leu274=)
|
rs148032495
|
0.00024
|
|
NM_004820.5(CYP7B1):c.*111G>A
|
rs140646421
|
0.00024
|
|
NM_014844.5(TECPR2):c.1677T>C (p.Ser559=)
|
rs375017422
|
0.00024
|
|
NM_014844.5(TECPR2):c.3831C>T (p.Asn1277=)
|
rs200792120
|
0.00024
|
|
NM_014844.5(TECPR2):c.672A>G (p.Gly224=)
|
rs138689342
|
0.00024
|
|
NM_014846.4(WASHC5):c.2422A>G (p.Ile808Val)
|
rs144507279
|
0.00024
|
|
NM_014855.3(AP5Z1):c.8C>T (p.Ser3Leu)
|
rs201971666
|
0.00024
|
|
NM_014946.4(SPAST):c.1625A>G (p.Asp542Gly)
|
rs142053576
|
0.00024
|
|
NM_015046.7(SETX):c.5346C>T (p.Ala1782=)
|
rs115071007
|
0.00024
|
|
NM_015087.5(SPART):c.*285del
|
rs570720520
|
0.00024
|
|
NM_015346.4(ZFYVE26):c.6T>A (p.Asn2Lys)
|
rs150603522
|
0.00024
|
|
NM_015915.5(ATL1):c.*653T>C
|
rs886050535
|
0.00024
|
|
NM_020738.4(KIDINS220):c.974A>G (p.Asn325Ser)
|
rs77973158
|
0.00024
|
|
NM_020944.3(GBA2):c.1357G>A (p.Ala453Thr)
|
rs145802357
|
0.00024
|
|
NM_022089.4(ATP13A2):c.3258G>A (p.Ala1086=)
|
rs377253172
|
0.00024
|
|
NM_022089.4(ATP13A2):c.3429C>T (p.Pro1143=)
|
rs377703085
|
0.00024
|
|
NM_024306.5(FA2H):c.232G>A (p.Glu78Lys)
|
rs527421775
|
0.00024
|
|
NM_025137.4(SPG11):c.1457-20A>C
|
rs376343587
|
0.00024
|
|
NM_025137.4(SPG11):c.491C>T (p.Ser164Leu)
|
rs148175530
|
0.00024
|
|
NM_033505.4(SELENOI):c.631C>T (p.Pro211Ser)
|
rs140004348
|
0.00024
|
|
NM_144599.5(NIPA1):c.*4895A>G
|
rs754185572
|
0.00024
|
|
NM_001122955.4(BSCL2):c.299G>T (p.Cys100Phe)
|
rs147314661
|
0.00023
|
|
NM_001166114.2(PNPLA6):c.225A>G (p.Arg75=)
|
rs553088930
|
0.00023
|
|
NM_001244008.2(KIF1A):c.3053A>C (p.His1018Pro)
|
rs201846946
|
0.00023
|
|
NM_001244008.2(KIF1A):c.4851C>T (p.Tyr1617=)
|
rs202049905
|
0.00023
|
|
NM_001253852.3(AP4B1):c.1843T>G (p.Ser615Ala)
|
rs148748734
|
0.00023
|
|
NM_002361.4(MAG):c.1344G>A (p.Ser448=)
|
rs149838575
|
0.00023
|
|
NM_004722.4(AP4M1):c.1342G>A (p.Ala448Thr)
|
rs147738731
|
0.00023
|
|
NM_004722.4(AP4M1):c.380C>T (p.Thr127Met)
|
rs147261925
|
0.00023
|
|
NM_007215.4(POLG2):c.457C>G (p.Leu153Val)
|
rs149446102
|
0.00023
|
|
NM_014844.5(TECPR2):c.3246G>C (p.Gly1082=)
|
rs373876214
|
0.00023
|
|
NM_014844.5(TECPR2):c.4035C>T (p.Ala1345=)
|
rs376614211
|
0.00023
|
|
NM_014855.3(AP5Z1):c.*278G>A
|
rs975774214
|
0.00023
|
|
NM_014855.3(AP5Z1):c.1785G>T (p.Gly595=)
|
rs774921196
|
0.00023
|
|
NM_014946.4(SPAST):c.1593A>G (p.Gln531=)
|
rs754291673
|
0.00023
|
|
NM_015214.3(DDHD2):c.502-9C>T
|
rs375704564
|
0.00023
|
|
NM_020944.3(GBA2):c.786+9C>A
|
rs374309697
|
0.00023
|
|
NM_022089.4(ATP13A2):c.2198C>T (p.Thr733Met)
|
rs201883464
|
0.00023
|
|
NM_025137.4(SPG11):c.1670A>G (p.Asn557Ser)
|
rs372263107
|
0.00023
|
|
NM_031448.6(C19orf12):c.161-18C>T
|
rs113947435
|
0.00023
|
|
NM_144599.5(NIPA1):c.*2543C>G
|
rs879536673
|
0.00023
|
|
NM_152415.3(VPS37A):c.430C>A (p.Pro144Thr)
|
rs373775451
|
0.00023
|
|
NM_000533.5(PLP1):c.579C>T (p.Thr193=)
|
rs778217267
|
0.00022
|
|
NM_001160148.2(DDHD1):c.976G>C (p.Asp326His)
|
rs145456012
|
0.00022
|
|
NM_001166114.2(PNPLA6):c.1056C>T (p.Thr352=)
|
rs759971785
|
0.00022
|
|
NM_001244008.2(KIF1A):c.5333+19C>T
|
rs369881691
|
0.00022
|
|
NM_001351169.2(NT5C2):c.634-14T>G
|
rs200522283
|
0.00022
|
|
NM_001385875.1(ZFYVE27):c.508G>A (p.Ala170Thr)
|
rs555051885
|
0.00022
|
|
NM_002361.4(MAG):c.1117A>C (p.Ser373Arg)
|
rs142375870
|
0.00022
|
|
NM_002361.4(MAG):c.600A>T (p.Ser200=)
|
rs200695849
|
0.00022
|
|
NM_002860.4(ALDH18A1):c.1253T>A (p.Leu418His)
|
rs201069261
|
0.00022
|
|
NM_003119.4(SPG7):c.220G>A (p.Gly74Arg)
|
rs114854791
|
0.00022
|
|
NM_004820.5(CYP7B1):c.522T>C (p.Ser174=)
|
rs371522442
|
0.00022
|
|
NM_006612.6(KIF1C):c.184-8T>C
|
rs192384276
|
0.00022
|
|
NM_006612.6(KIF1C):c.18G>A (p.Val6=)
|
rs148361794
|
0.00022
|
|
NM_006612.6(KIF1C):c.2481G>A (p.Gly827=)
|
rs146679209
|
0.00022
|
|
NM_012073.5(CCT5):c.86T>C (p.Met29Thr)
|
rs141133834
|
0.00022
|
|
NM_014363.6(SACS):c.6952G>A (p.Ala2318Thr)
|
rs147949881
|
0.00022
|
|
NM_014855.3(AP5Z1):c.2387G>A (p.Arg796Gln)
|
rs199981070
|
0.00022
|
|
NM_014855.3(AP5Z1):c.790+18A>T
|
rs150460713
|
0.00022
|
|
NM_024306.5(FA2H):c.*783G>A
|
rs150692675
|
0.00022
|
|
NM_025137.4(SPG11):c.6010T>G (p.Leu2004Val)
|
rs200220848
|
0.00022
|
|
NM_152415.3(VPS37A):c.99C>A (p.Ile33=)
|
rs373895020
|
0.00022
|
|
NM_001199753.2(CPT1C):c.855C>T (p.Arg285=)
|
rs140099471
|
0.00021
|
|
NM_001244008.2(KIF1A):c.*2399C>T
|
rs746714441
|
0.00021
|
|
NM_001244008.2(KIF1A):c.-55C>T
|
rs886055838
|
0.00021
|
|
NM_001244008.2(KIF1A):c.2475C>T (p.Tyr825=)
|
rs199996308
|
0.00021
|
|
NM_001244008.2(KIF1A):c.3668C>T (p.Thr1223Met)
|
rs374873057
|
0.00021
|
|
NM_001244008.2(KIF1A):c.4998T>C (p.Pro1666=)
|
rs201119646
|
0.00021
|
|
NM_001244008.2(KIF1A):c.5155G>A (p.Val1719Met)
|
rs200511467
|
0.00021
|
|
NM_001244008.2(KIF1A):c.5301C>T (p.Tyr1767=)
|
rs373440327
|
0.00021
|
|
NM_001368809.2(AMPD2):c.1846T>C (p.Leu616=)
|
rs757521991
|
0.00021
|
|
NM_002361.4(MAG):c.1011C>T (p.Ala337=)
|
rs149315719
|
0.00021
|
|
NM_002693.3(POLG):c.2369G>A (p.Arg790His)
|
rs191490663
|
0.00021
|
|
NM_002860.4(ALDH18A1):c.37T>A (p.Phe13Ile)
|
rs376664715
|
0.00021
|
|
NM_004722.4(AP4M1):c.1100G>A (p.Arg367Gln)
|
rs139861201
|
0.00021
|
|
NM_004722.4(AP4M1):c.137C>T (p.Pro46Leu)
|
rs141331558
|
0.00021
|
|
NM_006070.6(TFG):c.988A>G (p.Thr330Ala)
|
rs145835282
|
0.00021
|
|
NM_012073.5(CCT5):c.*69C>T
|
rs535827783
|
0.00021
|
|
NM_012073.5(CCT5):c.1425C>T (p.Thr475=)
|
rs370529963
|
0.00021
|
|
NM_014844.5(TECPR2):c.2280C>T (p.His760=)
|
rs61744796
|
0.00021
|
|
NM_014846.4(WASHC5):c.2017-13T>C
|
rs74458977
|
0.00021
|
|
NM_014855.3(AP5Z1):c.*1586C>T
|
rs555597896
|
0.00021
|
|
NM_014855.3(AP5Z1):c.1916G>C (p.Arg639Thr)
|
rs201798269
|
0.00021
|
|
NM_014855.3(AP5Z1):c.511+19A>G
|
rs367613413
|
0.00021
|
|
NM_015046.7(SETX):c.1392A>G (p.Ser464=)
|
rs144164119
|
0.00021
|
|
NM_015087.5(SPART):c.*964C>T
|
rs956267323
|
0.00021
|
|
NM_015214.3(DDHD2):c.411+6C>T
|
rs562827417
|
0.00021
|
|
NM_020738.4(KIDINS220):c.2556A>G (p.Ala852=)
|
rs150868908
|
0.00021
|
|
NM_021830.5(TWNK):c.1609T>C (p.Tyr537His)
|
rs144001072
|
0.00021
|
|
NM_022089.4(ATP13A2):c.2043A>G (p.Thr681=)
|
rs143828547
|
0.00021
|
|
NM_022089.4(ATP13A2):c.36G>A (p.Thr12=)
|
rs61741838
|
0.00021
|
|
NM_024306.5(FA2H):c.271-8C>A
|
rs199610820
|
0.00021
|
|
NM_025137.4(SPG11):c.28G>A (p.Ala10Thr)
|
rs372658867
|
0.00021
|
|
NM_144599.5(NIPA1):c.*1395C>T
|
rs537516417
|
0.00021
|
|
NM_152415.3(VPS37A):c.418C>T (p.Leu140=)
|
rs143689645
|
0.00021
|
|
NM_183075.3(CYP2U1):c.639C>T (p.His213=)
|
rs147256952
|
0.00021
|
|
NM_001166114.2(PNPLA6):c.4024-13C>T
|
rs78093267
|
0.00020
|
|
NM_001244008.2(KIF1A):c.*190C>T
|
rs921006450
|
0.00020
|
|
NM_001253852.3(AP4B1):c.968C>T (p.Ser323Leu)
|
rs142732858
|
0.00020
|
|
NM_001368809.2(AMPD2):c.2268+10C>T
|
rs368736094
|
0.00020
|
|
NM_002860.4(ALDH18A1):c.96C>A (p.Ile32=)
|
rs11541779
|
0.00020
|
|
NM_004722.4(AP4M1):c.295G>A (p.Glu99Lys)
|
rs200347699
|
0.00020
|
|
NM_004820.5(CYP7B1):c.90C>T (p.Leu30=)
|
rs571177831
|
0.00020
|
|
NM_006459.4(ERLIN1):c.276A>G (p.Glu92=)
|
rs139168020
|
0.00020
|
|
NM_014363.6(SACS):c.7200T>C (p.Phe2400=)
|
rs148544893
|
0.00020
|
|
NM_014844.5(TECPR2):c.3492G>A (p.Gln1164=)
|
rs143960870
|
0.00020
|
|
NM_015087.5(SPART):c.*1892G>A
|
rs373152101
|
0.00020
|
|
NM_020944.3(GBA2):c.964C>T (p.Leu322=)
|
rs150861266
|
0.00020
|
|
NM_022089.4(ATP13A2):c.2685G>A (p.Leu895=)
|
rs138437271
|
0.00020
|
|
NM_025137.4(SPG11):c.2265A>G (p.Gln755=)
|
rs142909555
|
0.00020
|
|
NM_025137.4(SPG11):c.5121+12C>G
|
rs199766848
|
0.00020
|
|
NM_144599.5(NIPA1):c.*1703C>T
|
rs763790822
|
0.00020
|
|
NM_144599.5(NIPA1):c.801G>T (p.Val267=)
|
rs185222838
|
0.00020
|
|
NM_000533.5(PLP1):c.255C>T (p.Leu85=)
|
rs140047941
|
0.00019
|
|
NM_001010867.4(IBA57):c.930C>G (p.Phe310Leu)
|
rs142734560
|
0.00019
|
|
NM_001166114.2(PNPLA6):c.1343C>G (p.Ser448Cys)
|
rs144028775
|
0.00019
|
|
NM_001166114.2(PNPLA6):c.2818-4C>T
|
rs533705093
|
0.00019
|
|
NM_001166114.2(PNPLA6):c.2937-15C>A
|
rs377252767
|
0.00019
|
|
NM_001199753.2(CPT1C):c.1708G>A (p.Ala570Thr)
|
rs149943122
|
0.00019
|
|
NM_001244008.2(KIF1A):c.3234C>A (p.Ser1078Arg)
|
rs553976598
|
0.00019
|
|
NM_001244008.2(KIF1A):c.882+8G>A
|
rs376552408
|
0.00019
|
|
NM_001351169.2(NT5C2):c.540-4G>A
|
rs201261415
|
0.00019
|
|
NM_001385875.1(ZFYVE27):c.*778C>T
|
rs548911456
|
0.00019
|
|
NM_001478.5(B4GALNT1):c.1048A>G (p.Lys350Glu)
|
rs144643461
|
0.00019
|
|
NM_001776.6(ENTPD1):c.1149T>A (p.Thr383=)
|
rs779049792
|
0.00019
|
|
NM_002361.4(MAG):c.1103C>T (p.Thr368Met)
|
rs144554089
|
0.00019
|
|
NM_002361.4(MAG):c.633C>T (p.Asn211=)
|
rs373301414
|
0.00019
|
|
NM_003119.4(SPG7):c.2181+19G>A
|
rs201539829
|
0.00019
|
|
NM_003119.4(SPG7):c.2182-18T>C
|
rs374106302
|
0.00019
|
|
NM_004984.4(KIF5A):c.2718C>T (p.Tyr906=)
|
rs147057295
|
0.00019
|
|
NM_005154.5(USP8):c.2896-9T>C
|
rs199745319
|
0.00019
|
|
NM_006567.5(FARS2):c.550G>A (p.Asp184Asn)
|
rs554931092
|
0.00019
|
|
NM_014363.6(SACS):c.4757A>G (p.Asn1586Ser)
|
rs201558584
|
0.00019
|
|
NM_014363.6(SACS):c.7647T>G (p.Leu2549=)
|
rs186301471
|
0.00019
|
|
NM_014844.5(TECPR2):c.3108G>A (p.Gln1036=)
|
rs140351132
|
0.00019
|
|
NM_014846.4(WASHC5):c.-69C>T
|
rs903412802
|
0.00019
|
|
NM_014855.3(AP5Z1):c.1724T>G (p.Leu575Arg)
|
rs562425834
|
0.00019
|
|
NM_014855.3(AP5Z1):c.2060C>G (p.Ser687Cys)
|
rs201478168
|
0.00019
|
|
NM_014855.3(AP5Z1):c.258C>T (p.Cys86=)
|
rs369050534
|
0.00019
|
|
NM_014946.4(SPAST):c.*521A>G
|
rs886055968
|
0.00019
|
|
NM_015087.5(SPART):c.*1848A>C
|
rs553638012
|
0.00019
|
|
NM_015087.5(SPART):c.1414G>T (p.Ala472Ser)
|
rs142482393
|
0.00019
|
|
NM_015161.3(ARL6IP1):c.490A>C (p.Ile164Leu)
|
rs200377377
|
0.00019
|
|
NM_015214.3(DDHD2):c.1345G>T (p.Gly449Cys)
|
rs199730711
|
0.00019
|
|
NM_015346.4(ZFYVE26):c.748G>A (p.Glu250Lys)
|
rs200340910
|
0.00019
|
|
NM_020919.4(ALS2):c.2979+8T>C
|
rs373602123
|
0.00019
|
|
NM_024306.5(FA2H):c.*150C>T
|
rs559457516
|
0.00019
|
|
NM_025137.4(SPG11):c.2897G>A (p.Arg966His)
|
rs200281262
|
0.00019
|
|
NM_025137.4(SPG11):c.3521-16T>A
|
rs770282369
|
0.00019
|
|
NM_025137.4(SPG11):c.5796T>C (p.His1932=)
|
rs375350193
|
0.00019
|
|
NM_025137.4(SPG11):c.6786A>G (p.Lys2262=)
|
rs147076862
|
0.00019
|
|
NM_032756.4(HPDL):c.1017G>A (p.Glu339=)
|
rs148694275
|
0.00019
|
|
NM_058004.4(PI4KA):c.501G>T (p.Met167Ile)
|
rs185657767
|
0.00019
|
|
NM_001166114.2(PNPLA6):c.3397+6T>C
|
rs764082245
|
0.00018
|
|
NM_001166114.2(PNPLA6):c.714+6T>G
|
rs368637145
|
0.00018
|
|
NM_001244008.2(KIF1A):c.*555G>A
|
rs913376386
|
0.00018
|
|
NM_001244008.2(KIF1A):c.2582+4G>A
|
rs572013653
|
0.00018
|
|
NM_001244008.2(KIF1A):c.3202+8G>A
|
rs371620074
|
0.00018
|
|
NM_001244008.2(KIF1A):c.364-14C>G
|
rs376290711
|
0.00018
|
|
NM_001244008.2(KIF1A):c.3681G>A (p.Pro1227=)
|
rs370913170
|
0.00018
|
|
NM_001244008.2(KIF1A):c.4120G>A (p.Glu1374Lys)
|
rs951775920
|
0.00018
|
|
NM_001244008.2(KIF1A):c.4554C>T (p.Ser1518=)
|
rs775395101
|
0.00018
|
|
NM_001244008.2(KIF1A):c.864+17G>A
|
rs754302455
|
0.00018
|
|
NM_001371279.1(REEP1):c.519G>A (p.Pro173=)
|
rs376647453
|
0.00018
|
|
NM_006070.6(TFG):c.234T>A (p.Ile78=)
|
rs147546544
|
0.00018
|
|
NM_006612.6(KIF1C):c.3088C>T (p.Arg1030Cys)
|
rs62072492
|
0.00018
|
|
NM_012073.5(CCT5):c.*1289T>C
|
rs76573887
|
0.00018
|
|
NM_014855.3(AP5Z1):c.*629C>T
|
rs558891748
|
0.00018
|
|
NM_014855.3(AP5Z1):c.1600G>T (p.Ala534Ser)
|
rs372517211
|
0.00018
|
|
NM_014946.4(SPAST):c.*1995A>G
|
rs540679757
|
0.00018
|
|
NM_014946.4(SPAST):c.1617-3C>T
|
rs201212542
|
0.00018
|
|
NM_015346.4(ZFYVE26):c.6154G>A (p.Val2052Ile)
|
rs201273304
|
0.00018
|
|
NM_016630.7(SPG21):c.-8A>C
|
rs370166647
|
0.00018
|
|
NM_016630.7(SPG21):c.471A>G (p.Ala157=)
|
rs377558467
|
0.00018
|
|
NM_020738.4(KIDINS220):c.3318C>T (p.Ser1106=)
|
rs369693571
|
0.00018
|
|
NM_022089.4(ATP13A2):c.1543-9C>T
|
rs563459900
|
0.00018
|
|
NM_025137.4(SPG11):c.382A>G (p.Thr128Ala)
|
rs138969879
|
0.00018
|
|
NM_001010867.4(IBA57):c.204C>T (p.Pro68=)
|
rs376235022
|
0.00017
|
|
NM_001166114.2(PNPLA6):c.1048A>G (p.Thr350Ala)
|
rs367652625
|
0.00017
|
|
NM_001166114.2(PNPLA6):c.3094-14C>T
|
rs373699449
|
0.00017
|
|
NM_001166114.2(PNPLA6):c.708A>G (p.Pro236=)
|
rs762180901
|
0.00017
|
|
NM_001199753.2(CPT1C):c.1125C>T (p.His375=)
|
rs141956324
|
0.00017
|
|
NM_001244008.2(KIF1A):c.1422-8T>C
|
rs368650174
|
0.00017
|
|
NM_001244008.2(KIF1A):c.4206G>A (p.Ser1402=)
|
rs201656750
|
0.00017
|
|
NM_001776.6(ENTPD1):c.424G>C (p.Glu142Gln)
|
rs148809600
|
0.00017
|
|
NM_002361.4(MAG):c.1404C>G (p.Leu468=)
|
rs146550254
|
0.00017
|
|
NM_002693.3(POLG):c.2028G>A (p.Ala676=)
|
rs373550219
|
0.00017
|
|
NM_003119.4(SPG7):c.1764G>A (p.Thr588=)
|
rs373536584
|
0.00017
|
|
NM_003119.4(SPG7):c.1939G>T (p.Ala647Ser)
|
rs199689138
|
0.00017
|
|
NM_005154.5(USP8):c.250-8A>C
|
rs199586071
|
0.00017
|
|
NM_006070.6(TFG):c.849A>G (p.Gln283=)
|
rs148835012
|
0.00017
|
|
NM_014363.6(SACS):c.3282C>T (p.Asn1094=)
|
rs145499245
|
0.00017
|
|
NM_014844.5(TECPR2):c.2807C>T (p.Pro936Leu)
|
rs373173535
|
0.00017
|
|
NM_014844.5(TECPR2):c.3548C>T (p.Ala1183Val)
|
rs146196522
|
0.00017
|
|
NM_014855.3(AP5Z1):c.*1881A>T
|
rs886062363
|
0.00017
|
|
NM_014855.3(AP5Z1):c.2053C>T (p.Arg685Cys)
|
rs367867460
|
0.00017
|
|
NM_014946.4(SPAST):c.1536+17G>T
|
rs201026422
|
0.00017
|
|
NM_015087.5(SPART):c.*108T>C
|
rs764365567
|
0.00017
|
|
NM_015214.3(DDHD2):c.1575C>T (p.Tyr525=)
|
rs139004425
|
0.00017
|
|
NM_015346.4(ZFYVE26):c.1369C>G (p.Leu457Val)
|
rs201917832
|
0.00017
|
|
NM_015915.5(ATL1):c.1428A>G (p.Leu476=)
|
rs367898123
|
0.00017
|
|
NM_020944.3(GBA2):c.1561G>A (p.Gly521Ser)
|
rs371611090
|
0.00017
|
|
NM_022089.4(ATP13A2):c.1353+8T>C
|
rs369680614
|
0.00017
|
|
NM_024306.5(FA2H):c.925G>A (p.Val309Ile)
|
rs150427439
|
0.00017
|
|
NM_025137.4(SPG11):c.4873C>T (p.Leu1625Phe)
|
rs371716779
|
0.00017
|
|
NM_025137.4(SPG11):c.667+5C>T
|
rs375485062
|
0.00017
|
|
NM_001122955.4(BSCL2):c.1367G>A (p.Arg456His)
|
rs149466797
|
0.00016
|
|
NM_001160148.2(DDHD1):c.1120C>A (p.Gln374Lys)
|
rs143813159
|
0.00016
|
|
NM_001166114.2(PNPLA6):c.*89C>T
|
rs765333636
|
0.00016
|
|
NM_001166114.2(PNPLA6):c.1488C>T (p.Phe496=)
|
rs151146154
|
0.00016
|
|
NM_001166114.2(PNPLA6):c.3398-15C>A
|
rs370069081
|
0.00016
|
|
NM_001166114.2(PNPLA6):c.714+7G>A
|
rs371188270
|
0.00016
|
|
NM_001199753.2(CPT1C):c.1803G>A (p.Thr601=)
|
rs367578193
|
0.00016
|
|
NM_001244008.2(KIF1A):c.*576C>T
|
rs552928475
|
0.00016
|
|
NM_001244008.2(KIF1A):c.1421+10G>A
|
rs191716550
|
0.00016
|
|
NM_001244008.2(KIF1A):c.2106C>T (p.Pro702=)
|
rs372340696
|
0.00016
|
|
NM_001244008.2(KIF1A):c.3247G>A (p.Ala1083Thr)
|
rs201793635
|
0.00016
|
|
NM_001244008.2(KIF1A):c.4249T>A (p.Ser1417Thr)
|
rs200855792
|
0.00016
|
|
NM_001244008.2(KIF1A):c.4771C>T (p.Arg1591Trp)
|
rs201139273
|
0.00016
|
|
NM_001368809.2(AMPD2):c.219C>T (p.Ala73=)
|
rs140683735
|
0.00016
|
|
NM_001368809.2(AMPD2):c.582C>T (p.Leu194=)
|
rs144177097
|
0.00016
|
|
NM_001385875.1(ZFYVE27):c.149A>G (p.Tyr50Cys)
|
rs199548555
|
0.00016
|
|
NM_001776.6(ENTPD1):c.1479C>G (p.Ile493Met)
|
rs146889178
|
0.00016
|
|
NM_002361.4(MAG):c.1405G>C (p.Val469Leu)
|
rs200754835
|
0.00016
|
|
NM_002693.3(POLG):c.32G>A (p.Gly11Asp)
|
rs765472726
|
0.00016
|
|
NM_003119.4(SPG7):c.862-16T>G
|
rs199954282
|
0.00016
|
|
NM_004722.4(AP4M1):c.1245G>A (p.Thr415=)
|
rs142429364
|
0.00016
|
|
NM_004820.5(CYP7B1):c.929G>A (p.Arg310Gln)
|
rs201867790
|
0.00016
|
|
NM_004984.4(KIF5A):c.129+9C>T
|
rs372131378
|
0.00016
|
|
NM_004984.4(KIF5A):c.2040G>A (p.Val680=)
|
rs117670788
|
0.00016
|
|
NM_004984.4(KIF5A):c.292-5G>A
|
rs201917057
|
0.00016
|
|
NM_005154.5(USP8):c.1148C>T (p.Pro383Leu)
|
rs755896571
|
0.00016
|
|
NM_005154.5(USP8):c.1872C>T (p.Asp624=)
|
rs375855680
|
0.00016
|
|
NM_005619.5(RTN2):c.*51T>C
|
rs569611116
|
0.00016
|
|
NM_006612.6(KIF1C):c.1065C>T (p.Asn355=)
|
rs576640333
|
0.00016
|
|
NM_006612.6(KIF1C):c.1197C>T (p.Gly399=)
|
rs142811879
|
0.00016
|
|
NM_006612.6(KIF1C):c.1563C>T (p.Gly521=)
|
rs376123205
|
0.00016
|
|
NM_007215.4(POLG2):c.674G>A (p.Arg225Gln)
|
rs148101254
|
0.00016
|
|
NM_014363.6(SACS):c.11703T>C (p.Asn3901=)
|
rs146154135
|
0.00016
|
|
NM_014363.6(SACS):c.3752T>C (p.Ile1251Thr)
|
rs76872266
|
0.00016
|
|
NM_014363.6(SACS):c.4302A>G (p.Leu1434=)
|
rs34559250
|
0.00016
|
|
NM_014846.4(WASHC5):c.1178G>A (p.Arg393His)
|
rs151298198
|
0.00016
|
|
NM_014846.4(WASHC5):c.2199+4C>A
|
rs145721086
|
0.00016
|
|
NM_014846.4(WASHC5):c.555T>C (p.Asp185=)
|
rs145934920
|
0.00016
|
|
NM_014855.3(AP5Z1):c.1473C>G (p.Ser491=)
|
rs370135619
|
0.00016
|
|
NM_014855.3(AP5Z1):c.1601C>T (p.Ala534Val)
|
rs764332870
|
0.00016
|
|
NM_014855.3(AP5Z1):c.1965G>A (p.Ser655=)
|
rs543467648
|
0.00016
|
|
NM_014855.3(AP5Z1):c.617G>A (p.Arg206Gln)
|
rs774461879
|
0.00016
|
|
NM_014855.3(AP5Z1):c.691C>T (p.Arg231Cys)
|
rs774832344
|
0.00016
|
|
NM_014946.4(SPAST):c.*2737G>A
|
rs926197235
|
0.00016
|
|
NM_015087.5(SPART):c.*1751A>T
|
rs575603612
|
0.00016
|
|
NM_015087.5(SPART):c.1745A>T (p.Asn582Ile)
|
rs139085653
|
0.00016
|
|
NM_015915.5(ATL1):c.991-6T>G
|
rs192428744
|
0.00016
|
|
NM_020919.4(ALS2):c.1578A>G (p.Thr526=)
|
rs147284131
|
0.00016
|
|
NM_022089.4(ATP13A2):c.2592C>T (p.Cys864=)
|
rs777472886
|
0.00016
|
|
NM_024306.5(FA2H):c.*165G>A
|
rs527578399
|
0.00016
|
|
NM_024306.5(FA2H):c.1112C>T (p.Thr371Met)
|
rs141854925
|
0.00016
|
|
NM_024989.4(PGAP1):c.2467C>G (p.Leu823Val)
|
rs138036688
|
0.00016
|
|
NM_025137.4(SPG11):c.1171A>G (p.Ile391Val)
|
rs145958193
|
0.00016
|
|
NM_025137.4(SPG11):c.1433A>G (p.Gln478Arg)
|
rs142428867
|
0.00016
|
|
NM_025137.4(SPG11):c.2169C>T (p.Gly723=)
|
rs371338650
|
0.00016
|
|
NM_025137.4(SPG11):c.4490A>G (p.Asn1497Ser)
|
rs747973076
|
0.00016
|
|
NM_025137.4(SPG11):c.5315G>A (p.Arg1772His)
|
rs150823040
|
0.00016
|
|
NM_025137.4(SPG11):c.5969A>G (p.Tyr1990Cys)
|
rs199920965
|
0.00016
|
|
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_144599.5(NIPA1):c.*2497G>T
|
rs183616718
|
0.00016
|
|
NM_152415.3(VPS37A):c.918G>A (p.Gln306=)
|
rs370931373
|
0.00016
|
|
NM_001166114.2(PNPLA6):c.1275C>T (p.Ser425=)
|
rs759189905
|
0.00015
|
|
NM_001166114.2(PNPLA6):c.2922C>A (p.Gly974=)
|
rs767028461
|
0.00015
|
|
NM_001166114.2(PNPLA6):c.3428C>T (p.Thr1143Met)
|
rs142294971
|
0.00015
|
|
NM_001199753.2(CPT1C):c.1292C>T (p.Ala431Val)
|
rs776700182
|
0.00015
|
|
NM_001199753.2(CPT1C):c.1308C>T (p.Tyr436=)
|
rs138872867
|
0.00015
|
|
NM_001199753.2(CPT1C):c.1707C>T (p.Ile569=)
|
rs139121663
|
0.00015
|
|
NM_001199753.2(CPT1C):c.200G>A (p.Ser67Asn)
|
rs151219989
|
0.00015
|
|
NM_001244008.2(KIF1A):c.3680C>T (p.Pro1227Leu)
|
rs374244985
|
0.00015
|
|
NM_001244008.2(KIF1A):c.3902-18C>T
|
rs367548685
|
0.00015
|
|
NM_001244008.2(KIF1A):c.4666-17G>A
|
rs372562861
|
0.00015
|
|
NM_001351169.2(NT5C2):c.1665G>T (p.Glu555Asp)
|
rs141031435
|
0.00015
|
|
NM_001368809.2(AMPD2):c.912C>T (p.Asp304=)
|
rs141396033
|
0.00015
|
|
NM_001371279.1(REEP1):c.483A>G (p.Gly161=)
|
rs373854674
|
0.00015
|
|
NM_001385875.1(ZFYVE27):c.*1576A>G
|
rs1035977839
|
0.00015
|
|
NM_001776.6(ENTPD1):c.972A>G (p.Gln324=)
|
rs376745066
|
0.00015
|
|
NM_002361.4(MAG):c.1314G>A (p.Pro438=)
|
rs111518896
|
0.00015
|
|
NM_002361.4(MAG):c.971-5C>T
|
rs200576970
|
0.00015
|
|
NM_002860.4(ALDH18A1):c.148A>G (p.Thr50Ala)
|
rs374047257
|
0.00015
|
|
NM_003119.4(SPG7):c.1715C>T (p.Ala572Val)
|
rs72547551
|
0.00015
|
|
NM_005619.5(RTN2):c.1630G>A (p.Ala544Thr)
|
rs201387324
|
0.00015
|
|
NM_014855.3(AP5Z1):c.1567C>T (p.Arg523Cys)
|
rs201067711
|
0.00015
|
|
NM_014855.3(AP5Z1):c.1953C>T (p.Gly651=)
|
rs200617745
|
0.00015
|
|
NM_014855.3(AP5Z1):c.2019C>G (p.Ala673=)
|
rs368623061
|
0.00015
|
|
NM_014855.3(AP5Z1):c.2375G>A (p.Arg792His)
|
rs201677317
|
0.00015
|
|
NM_015046.7(SETX):c.7100+9T>C
|
rs200088320
|
0.00015
|
|
NM_016630.7(SPG21):c.204A>G (p.Gly68=)
|
rs144361698
|
0.00015
|
|
NM_020944.3(GBA2):c.659G>A (p.Gly220Asp)
|
rs145436860
|
0.00015
|
|
NM_021830.5(TWNK):c.1101C>T (p.Ile367=)
|
rs200798080
|
0.00015
|
|
NM_022089.4(ATP13A2):c.1108C>T (p.Arg370Trp)
|
rs142616130
|
0.00015
|
|
NM_022089.4(ATP13A2):c.3327G>A (p.Arg1109=)
|
rs112261486
|
0.00015
|
|
NM_025137.4(SPG11):c.1121C>G (p.Ser374Cys)
|
rs144403346
|
0.00015
|
|
NM_025137.4(SPG11):c.3520+20T>G
|
rs376883385
|
0.00015
|
|
NM_025137.4(SPG11):c.5011C>T (p.His1671Tyr)
|
rs141011688
|
0.00015
|
|
NM_144599.5(NIPA1):c.681C>T (p.Leu227=)
|
rs200282898
|
0.00015
|
|
NM_001122955.4(BSCL2):c.133G>A (p.Gly45Ser)
|
rs3763853
|
0.00014
|
|
NM_001122955.4(BSCL2):c.844G>A (p.Ala282Thr)
|
rs190842600
|
0.00014
|
|
NM_001166114.2(PNPLA6):c.1398C>T (p.Gly466=)
|
rs146463717
|
0.00014
|
|
NM_001166114.2(PNPLA6):c.3997G>A (p.Ala1333Thr)
|
rs143280550
|
0.00014
|
|
NM_001244008.2(KIF1A):c.*2541G>A
|
rs923896641
|
0.00014
|
|
NM_001244008.2(KIF1A):c.*347A>G
|
rs180713855
|
0.00014
|
|
NM_001244008.2(KIF1A):c.2132G>A (p.Arg711Gln)
|
rs774604596
|
0.00014
|
|
NM_001244008.2(KIF1A):c.258T>C (p.Phe86=)
|
rs183284555
|
0.00014
|
|
NM_001244008.2(KIF1A):c.3094A>T (p.Met1032Leu)
|
rs370378060
|
0.00014
|
|
NM_001244008.2(KIF1A):c.4123-12C>T
|
rs373658287
|
0.00014
|
|
NM_001244008.2(KIF1A):c.4666-20C>T
|
rs370512368
|
0.00014
|
|
NM_001253852.3(AP4B1):c.373A>G (p.Ile125Val)
|
rs143769705
|
0.00014
|
|
NM_001271803.2(REEP2):c.388G>A (p.Ala130Thr)
|
rs201267841
|
0.00014
|
|
NM_001278116.2(L1CAM):c.649A>C (p.Arg217=)
|
rs201204893
|
0.00014
|
|
NM_001351169.2(NT5C2):c.201C>T (p.Ser67=)
|
rs139949315
|
0.00014
|
|
NM_001351169.2(NT5C2):c.813+19T>C
|
rs201832517
|
0.00014
|
|
NM_001368809.2(AMPD2):c.1207C>T (p.Arg403Trp)
|
rs373128067
|
0.00014
|
|
NM_001368809.2(AMPD2):c.1778C>T (p.Ala593Val)
|
rs376516473
|
0.00014
|
|
NM_001371279.1(REEP1):c.518C>T (p.Pro173Leu)
|
rs777245164
|
0.00014
|
|
NM_001385875.1(ZFYVE27):c.424C>T (p.Arg142Cys)
|
rs145746084
|
0.00014
|
|
NM_001776.6(ENTPD1):c.441G>C (p.Arg147Ser)
|
rs142431233
|
0.00014
|
|
NM_001776.6(ENTPD1):c.834C>T (p.Leu278=)
|
rs780370619
|
0.00014
|
|
NM_002361.4(MAG):c.957G>C (p.Gly319=)
|
rs200319885
|
0.00014
|
|
NM_002860.4(ALDH18A1):c.1376G>A (p.Arg459Gln)
|
rs771386671
|
0.00014
|
|
NM_002860.4(ALDH18A1):c.2335A>G (p.Ser779Gly)
|
rs143874727
|
0.00014
|
|
NM_002860.4(ALDH18A1):c.959A>G (p.Gln320Arg)
|
rs143635402
|
0.00014
|
|
NM_002860.4(ALDH18A1):c.986A>G (p.Asn329Ser)
|
rs141291042
|
0.00014
|
|
NM_003119.4(SPG7):c.233T>A (p.Leu78Ter)
|
rs121918358
|
0.00014
|
|
NM_003119.4(SPG7):c.782C>T (p.Thr261Met)
|
rs370949294
|
0.00014
|
|
NM_004722.4(AP4M1):c.630G>A (p.Val210=)
|
rs537780447
|
0.00014
|
|
NM_004722.4(AP4M1):c.975-14C>T
|
rs370610939
|
0.00014
|
|
NM_004820.5(CYP7B1):c.-73A>C
|
rs72554625
|
0.00014
|
|
NM_004820.5(CYP7B1):c.101G>A (p.Cys34Tyr)
|
rs1031580133
|
0.00014
|
|
NM_004820.5(CYP7B1):c.1457G>A (p.Arg486His)
|
rs755729966
|
0.00014
|
|
NM_004984.4(KIF5A):c.1389C>T (p.Asn463=)
|
rs112982686
|
0.00014
|
|
NM_004984.4(KIF5A):c.2927C>T (p.Thr976Ile)
|
rs139801016
|
0.00014
|
|
NM_005154.5(USP8):c.541+9G>A
|
rs141310097
|
0.00014
|
|
NM_006612.6(KIF1C):c.2591G>A (p.Arg864His)
|
rs146628704
|
0.00014
|
|
NM_006612.6(KIF1C):c.2920G>A (p.Asp974Asn)
|
rs550136320
|
0.00014
|
|
NM_006612.6(KIF1C):c.3128C>T (p.Ala1043Val)
|
rs373541138
|
0.00014
|
|
NM_012073.5(CCT5):c.*1404T>G
|
rs780281527
|
0.00014
|
|
NM_012073.5(CCT5):c.*1405T>C
|
rs747318041
|
0.00014
|
|
NM_012073.5(CCT5):c.1161T>C (p.Ile387=)
|
rs377234917
|
0.00014
|
|
NM_014363.6(SACS):c.9299C>A (p.Ser3100Tyr)
|
rs150615169
|
0.00014
|
|
NM_014844.5(TECPR2):c.2671C>T (p.Leu891=)
|
rs142569475
|
0.00014
|
|
NM_014844.5(TECPR2):c.2966C>T (p.Thr989Met)
|
rs140963558
|
0.00014
|
|
NM_014844.5(TECPR2):c.622A>G (p.Thr208Ala)
|
rs536338550
|
0.00014
|
|
NM_014855.3(AP5Z1):c.684C>T (p.Ser228=)
|
rs746349613
|
0.00014
|
|
NM_014946.4(SPAST):c.*2779G>A
|
rs886055982
|
0.00014
|
|
NM_014946.4(SPAST):c.165C>T (p.Tyr55=)
|
rs368951498
|
0.00014
|
|
NM_015087.5(SPART):c.360A>G (p.Lys120=)
|
rs149730980
|
0.00014
|
|
NM_015214.3(DDHD2):c.393C>G (p.Ser131Arg)
|
rs201121892
|
0.00014
|
|
NM_015214.3(DDHD2):c.899C>T (p.Thr300Ile)
|
rs200249745
|
0.00014
|
|
NM_015214.3(DDHD2):c.930C>T (p.Tyr310=)
|
rs200317856
|
0.00014
|
|
NM_015346.4(ZFYVE26):c.5927C>T (p.Thr1976Met)
|
rs149744465
|
0.00014
|
|
NM_015346.4(ZFYVE26):c.6918A>T (p.Thr2306=)
|
rs146227863
|
0.00014
|
|
NM_015915.5(ATL1):c.1152A>G (p.Pro384=)
|
rs377127492
|
0.00014
|
|
NM_020919.4(ALS2):c.3746T>C (p.Phe1249Ser)
|
rs551822626
|
0.00014
|
|
NM_020944.3(GBA2):c.1848T>C (p.Asp616=)
|
rs766509602
|
0.00014
|
|
NM_022089.4(ATP13A2):c.106-5C>T
|
rs117838709
|
0.00014
|
|
NM_022089.4(ATP13A2):c.1449C>T (p.Tyr483=)
|
rs750600448
|
0.00014
|
|
NM_022089.4(ATP13A2):c.3472C>T (p.Arg1158Cys)
|
rs201610681
|
0.00014
|
|
NM_024306.5(FA2H):c.202A>G (p.Arg68Gly)
|
rs750198250
|
0.00014
|
|
NM_025137.4(SPG11):c.2318T>G (p.Val773Gly)
|
rs182080501
|
0.00014
|
|
NM_025137.4(SPG11):c.4308A>G (p.Gln1436=)
|
rs374059020
|
0.00014
|
|
NM_025137.4(SPG11):c.4410C>T (p.Leu1470=)
|
rs145579121
|
0.00014
|
|
NM_025137.4(SPG11):c.6877C>T (p.Arg2293Trp)
|
rs151317653
|
0.00014
|
|
NM_025137.4(SPG11):c.7039T>G (p.Trp2347Gly)
|
rs146816632
|
0.00014
|
|
NM_031448.6(C19orf12):c.121G>A (p.Val41Ile)
|
rs148797643
|
0.00014
|
|
NM_031448.6(C19orf12):c.305C>T (p.Thr102Met)
|
rs139585199
|
0.00014
|
|
NM_058004.4(PI4KA):c.5137G>C (p.Asp1713His)
|
rs142131375
|
0.00014
|
|
NM_058004.4(PI4KA):c.5596G>A (p.Asp1866Asn)
|
rs368442314
|
0.00014
|
|
NM_144599.5(NIPA1):c.*3823G>A
|
rs886050990
|
0.00014
|
|
NM_152415.3(VPS37A):c.416+17T>C
|
rs375167006
|
0.00014
|
|
NM_001166114.2(PNPLA6):c.1096G>C (p.Ala366Pro)
|
rs533164657
|
0.00013
|
|
NM_001166114.2(PNPLA6):c.1335C>T (p.Ser445=)
|
rs201130683
|
0.00013
|
|
NM_001166114.2(PNPLA6):c.3712C>G (p.Gln1238Glu)
|
rs143072391
|
0.00013
|
|
NM_001166114.2(PNPLA6):c.3951C>T (p.Asp1317=)
|
rs369490282
|
0.00013
|
|
NM_001244008.2(KIF1A):c.1233C>T (p.Ser411=)
|
rs201140044
|
0.00013
|
|
NM_001244008.2(KIF1A):c.1498-18C>T
|
rs377208782
|
0.00013
|
|
NM_001244008.2(KIF1A):c.1663G>A (p.Asp555Asn)
|
rs375972461
|
0.00013
|
|
NM_001244008.2(KIF1A):c.2955C>T (p.Arg985=)
|
rs537989393
|
0.00013
|
|
NM_001244008.2(KIF1A):c.4306G>A (p.Ala1436Thr)
|
rs200126737
|
0.00013
|
|
NM_001244008.2(KIF1A):c.714G>A (p.Thr238=)
|
rs201970806
|
0.00013
|
|
NM_002361.4(MAG):c.1120G>A (p.Glu374Lys)
|
rs201059845
|
0.00013
|
|
NM_002361.4(MAG):c.216G>C (p.Val72=)
|
rs200631477
|
0.00013
|
|
NM_002361.4(MAG):c.940G>T (p.Asp314Tyr)
|
rs202087211
|
0.00013
|
|
NM_003119.4(SPG7):c.80C>G (p.Pro27Arg)
|
rs878854605
|
0.00013
|
|
NM_003119.4(SPG7):c.89G>A (p.Ser30Asn)
|
rs863224215
|
0.00013
|
|
NM_004984.4(KIF5A):c.*170T>A
|
rs761486570
|
0.00013
|
|
NM_006459.4(ERLIN1):c.762C>A (p.Ala254=)
|
rs143495333
|
0.00013
|
|
NM_006612.6(KIF1C):c.701C>T (p.Thr234Met)
|
rs201655443
|
0.00013
|
|
NM_012073.5(CCT5):c.1519A>G (p.Ile507Val)
|
rs138168151
|
0.00013
|
|
NM_014363.6(SACS):c.1219C>A (p.Leu407Ile)
|
rs201569239
|
0.00013
|
|
NM_014363.6(SACS):c.8245A>G (p.Ile2749Val)
|
rs186436335
|
0.00013
|
|
NM_014363.6(SACS):c.9399A>G (p.Lys3133=)
|
rs762665640
|
0.00013
|
|
NM_014844.5(TECPR2):c.1248C>T (p.Thr416=)
|
rs144313788
|
0.00013
|
|
NM_014844.5(TECPR2):c.3466G>A (p.Ala1156Thr)
|
rs200844941
|
0.00013
|
|
NM_014844.5(TECPR2):c.3602C>T (p.Thr1201Met)
|
rs377706262
|
0.00013
|
|
NM_014844.5(TECPR2):c.3640+11C>T
|
rs372780270
|
0.00013
|
|
NM_014844.5(TECPR2):c.53A>G (p.Tyr18Cys)
|
rs150645913
|
0.00013
|
|
NM_014846.4(WASHC5):c.405A>G (p.Gly135=)
|
rs529518868
|
0.00013
|
|
NM_014855.3(AP5Z1):c.*2109G>A
|
rs766301854
|
0.00013
|
|
NM_014855.3(AP5Z1):c.*2496G>A
|
rs753348874
|
0.00013
|
|
NM_014855.3(AP5Z1):c.1463C>T (p.Pro488Leu)
|
rs372654170
|
0.00013
|
|
NM_014855.3(AP5Z1):c.1685C>T (p.Ala562Val)
|
rs370300896
|
0.00013
|
|
NM_014855.3(AP5Z1):c.2287G>A (p.Val763Met)
|
rs147369435
|
0.00013
|
|
NM_014946.4(SPAST):c.*2433A>G
|
rs569779105
|
0.00013
|
|
NM_014946.4(SPAST):c.-7G>A
|
rs376165443
|
0.00013
|
|
NM_014946.4(SPAST):c.926G>A (p.Arg309His)
|
rs202152835
|
0.00013
|
|
NM_015046.7(SETX):c.3555G>A (p.Gln1185=)
|
rs762171056
|
0.00013
|
|
NM_015346.4(ZFYVE26):c.3970T>A (p.Ser1324Thr)
|
rs776708469
|
0.00013
|
|
NM_015346.4(ZFYVE26):c.5225C>G (p.Ser1742Cys)
|
rs193244014
|
0.00013
|
|
NM_015346.4(ZFYVE26):c.879G>A (p.Ser293=)
|
rs199794711
|
0.00013
|
|
NM_015915.5(ATL1):c.1173C>T (p.His391=)
|
rs149340140
|
0.00013
|
|
NM_020944.3(GBA2):c.1495G>A (p.Glu499Lys)
|
rs35818148
|
0.00013
|
|
NM_022089.4(ATP13A2):c.1080G>C (p.Gly360=)
|
rs55943100
|
0.00013
|
|
NM_022089.4(ATP13A2):c.1196-14C>T
|
rs200896109
|
0.00013
|
|
NM_022089.4(ATP13A2):c.1975C>T (p.Leu659=)
|
rs755284799
|
0.00013
|
|
NM_022089.4(ATP13A2):c.3040G>A (p.Gly1014Ser)
|
rs202166353
|
0.00013
|
|
NM_022089.4(ATP13A2):c.3235+13G>A
|
rs369278996
|
0.00013
|
|
NM_024306.5(FA2H):c.798C>T (p.Asp266=)
|
rs771402018
|
0.00013
|
|
NM_025137.4(SPG11):c.2075T>C (p.Ile692Thr)
|
rs144012151
|
0.00013
|
|
NM_025137.4(SPG11):c.2245-13A>G
|
rs200426807
|
0.00013
|
|
NM_025137.4(SPG11):c.3311A>T (p.Asn1104Ile)
|
rs140247471
|
0.00013
|
|
NM_025137.4(SPG11):c.5461A>C (p.Arg1821=)
|
rs142526742
|
0.00013
|
|
NM_025137.4(SPG11):c.5764G>C (p.Ala1922Pro)
|
rs147999915
|
0.00013
|
|
NM_031448.6(C19orf12):c.154G>C (p.Ala52Pro)
|
rs376103979
|
0.00013
|
|
NM_058004.4(PI4KA):c.4666G>A (p.Val1556Met)
|
rs144363917
|
0.00013
|
|
NM_144599.5(NIPA1):c.*3280A>G
|
rs1281408389
|
0.00013
|
|
NM_144599.5(NIPA1):c.*3872T>G
|
rs528309949
|
0.00013
|
|
NM_144599.5(NIPA1):c.753G>C (p.Ala251=)
|
rs199718530
|
0.00013
|
|
NM_183075.3(CYP2U1):c.517G>A (p.Val173Ile)
|
rs374109524
|
0.00013
|
|
NM_001003800.2(BICD2):c.1823C>T (p.Ser608Leu)
|
rs150861652
|
0.00012
|
|
NM_001010867.4(IBA57):c.801C>T (p.Ala267=)
|
rs138699407
|
0.00012
|
|
NM_001166114.2(PNPLA6):c.1222C>T (p.Arg408Cys)
|
rs998008899
|
0.00012
|
|
NM_001166114.2(PNPLA6):c.2381A>G (p.Gln794Arg)
|
rs138366337
|
0.00012
|
|
NM_001166114.2(PNPLA6):c.4024-19G>C
|
rs377319496
|
0.00012
|
|
NM_001244008.2(KIF1A):c.*129G>A
|
rs779232085
|
0.00012
|
|
NM_001244008.2(KIF1A):c.*1486C>T
|
rs530196248
|
0.00012
|
|
NM_001244008.2(KIF1A):c.1221G>A (p.Leu407=)
|
rs201242759
|
0.00012
|
|
NM_001244008.2(KIF1A):c.1856C>T (p.Ala619Val)
|
rs765812659
|
0.00012
|
|
NM_001244008.2(KIF1A):c.4319-14C>T
|
rs376327257
|
0.00012
|
|
NM_001244008.2(KIF1A):c.5130C>T (p.Ser1710=)
|
rs553465326
|
0.00012
|
|
NM_002361.4(MAG):c.1274G>A (p.Arg425Gln)
|
rs144213585
|
0.00012
|
|
NM_003119.4(SPG7):c.1197C>T (p.Ala399=)
|
rs373627269
|
0.00012
|
|
NM_003119.4(SPG7):c.2250G>A (p.Pro750=)
|
rs144039221
|
0.00012
|
|
NM_004984.4(KIF5A):c.1264C>T (p.Arg422Cys)
|
rs748402153
|
0.00012
|
|
NM_005186.4(CAPN1):c.1605+5G>A
|
rs375817528
|
0.00012
|
|
NM_006612.6(KIF1C):c.106+14C>T
|
rs747550794
|
0.00012
|
|
NM_006612.6(KIF1C):c.2006G>A (p.Arg669Gln)
|
rs566736417
|
0.00012
|
|
NM_006612.6(KIF1C):c.3217C>T (p.Pro1073Ser)
|
rs199966544
|
0.00012
|
|
NM_014844.5(TECPR2):c.3797G>T (p.Gly1266Val)
|
rs201704673
|
0.00012
|
|
NM_014844.5(TECPR2):c.4014C>T (p.Gly1338=)
|
rs372319066
|
0.00012
|
|
NM_014846.4(WASHC5):c.1217A>G (p.Asn406Ser)
|
rs200456170
|
0.00012
|
|
NM_014846.4(WASHC5):c.187-6T>C
|
rs200227798
|
0.00012
|
|
NM_014846.4(WASHC5):c.2332A>G (p.Ile778Val)
|
rs146623998
|
0.00012
|
|
NM_014846.4(WASHC5):c.2829G>A (p.Ala943=)
|
rs369339497
|
0.00012
|
|
NM_014855.3(AP5Z1):c.343G>C (p.Val115Leu)
|
rs760484894
|
0.00012
|
|
NM_014855.3(AP5Z1):c.550C>T (p.Leu184=)
|
rs373829290
|
0.00012
|
|
NM_014946.4(SPAST):c.*1777G>A
|
rs886055976
|
0.00012
|
|
NM_015046.7(SETX):c.5051C>G (p.Ser1684Cys)
|
rs140116005
|
0.00012
|
|
NM_015346.4(ZFYVE26):c.3695G>A (p.Cys1232Tyr)
|
rs150010519
|
0.00012
|
|
NM_015346.4(ZFYVE26):c.894G>A (p.Pro298=)
|
rs34082929
|
0.00012
|
|
NM_015915.5(ATL1):c.90A>G (p.Lys30=)
|
rs200452381
|
0.00012
|
|
NM_022089.4(ATP13A2):c.1171G>A (p.Val391Ile)
|
rs113105667
|
0.00012
|
|
NM_022089.4(ATP13A2):c.1711G>A (p.Asp571Asn)
|
rs369863178
|
0.00012
|
|
NM_022089.4(ATP13A2):c.192C>T (p.Leu64=)
|
rs576096315
|
0.00012
|
|
NM_022089.4(ATP13A2):c.3329A>G (p.Asn1110Ser)
|
rs758675397
|
0.00012
|
|
NM_022089.4(ATP13A2):c.356C>T (p.Pro119Leu)
|
rs752619582
|
0.00012
|
|
NM_024989.4(PGAP1):c.1638A>G (p.Glu546=)
|
rs142482606
|
0.00012
|
|
NM_025137.4(SPG11):c.1126A>G (p.Asn376Asp)
|
rs199765540
|
0.00012
|
|
NM_025137.4(SPG11):c.256C>G (p.His86Asp)
|
rs773123413
|
0.00012
|
|
NM_025137.4(SPG11):c.45T>C (p.Gly15=)
|
rs371828554
|
0.00012
|
|
NM_025137.4(SPG11):c.6307A>G (p.Lys2103Glu)
|
rs1199605323
|
0.00012
|
|
NM_144599.5(NIPA1):c.525C>T (p.Leu175=)
|
rs769522060
|
0.00012
|
|
NM_001122955.4(BSCL2):c.1234+7G>A
|
rs200631909
|
0.00011
|
|
NM_001122955.4(BSCL2):c.588C>T (p.Cys196=)
|
rs369806785
|
0.00011
|
|
NM_001160148.2(DDHD1):c.340T>C (p.Ser114Pro)
|
rs756788863
|
0.00011
|
|
NM_001166114.2(PNPLA6):c.1680C>T (p.Asp560=)
|
rs761103593
|
0.00011
|
|
NM_001166114.2(PNPLA6):c.2939G>C (p.Gly980Ala)
|
rs201902695
|
0.00011
|
|
NM_001166114.2(PNPLA6):c.3691C>G (p.Gln1231Glu)
|
rs375024068
|
0.00011
|
|
NM_001166114.2(PNPLA6):c.4077C>T (p.Pro1359=)
|
rs143060121
|
0.00011
|
|
NM_001166114.2(PNPLA6):c.555-13G>A
|
rs201099946
|
0.00011
|
|
NM_001199753.2(CPT1C):c.1449+7C>T
|
rs368891420
|
0.00011
|
|
NM_001244008.2(KIF1A):c.184-9G>A
|
rs528203482
|
0.00011
|
|
NM_001244008.2(KIF1A):c.3160G>A (p.Val1054Met)
|
rs371233697
|
0.00011
|
|
NM_001244008.2(KIF1A):c.3646G>A (p.Ala1216Thr)
|
rs368057315
|
0.00011
|
|
NM_001244008.2(KIF1A):c.3671G>A (p.Arg1224Gln)
|
rs375993206
|
0.00011
|
|
NM_001244008.2(KIF1A):c.4498G>C (p.Glu1500Gln)
|
rs376432305
|
0.00011
|
|
NM_001244008.2(KIF1A):c.4869-13C>T
|
rs772025810
|
0.00011
|
|
NM_001253852.3(AP4B1):c.1042G>A (p.Val348Met)
|
rs150622512
|
0.00011
|
|
NM_001351169.2(NT5C2):c.1139A>G (p.His380Arg)
|
rs138513368
|
0.00011
|
|
NM_001368809.2(AMPD2):c.27C>A (p.Gly9=)
|
rs141792341
|
0.00011
|
|
NM_001368809.2(AMPD2):c.8C>T (p.Ser3Phe)
|
rs763310916
|
0.00011
|
|
NM_002156.5(HSPD1):c.1488A>G (p.Gln496=)
|
rs142434256
|
0.00011
|
|
NM_002156.5(HSPD1):c.794A>G (p.Asn265Ser)
|
rs149003485
|
0.00011
|
|
NM_002361.4(MAG):c.1140G>A (p.Pro380=)
|
rs200135379
|
0.00011
|
|
NM_002361.4(MAG):c.1292T>A (p.Leu431Gln)
|
rs199969989
|
0.00011
|
|
NM_002361.4(MAG):c.1562T>G (p.Val521Gly)
|
rs200859403
|
0.00011
|
|
NM_002361.4(MAG):c.1813C>T (p.Arg605Trp)
|
rs73031735
|
0.00011
|
|
NM_002693.3(POLG):c.87C>T (p.Ser29=)
|
rs587781116
|
0.00011
|
|
NM_002860.4(ALDH18A1):c.1152+8_1152+9del
|
rs373488364
|
0.00011
|
|
NM_002860.4(ALDH18A1):c.1946A>G (p.Lys649Arg)
|
rs145197911
|
0.00011
|
|
NM_003119.4(SPG7):c.*24C>T
|
rs367714018
|
0.00011
|
|
NM_003119.4(SPG7):c.*483A>G
|
rs548134361
|
0.00011
|
|
NM_003119.4(SPG7):c.2274C>T (p.Ile758=)
|
rs147302322
|
0.00011
|
|
NM_003119.4(SPG7):c.250T>C (p.Leu84=)
|
rs138965309
|
0.00011
|
|
NM_003119.4(SPG7):c.76G>T (p.Gly26Cys)
|
rs763721899
|
0.00011
|
|
NM_004820.5(CYP7B1):c.1018C>T (p.His340Tyr)
|
rs757698965
|
0.00011
|
|
NM_004984.4(KIF5A):c.3033G>A (p.Pro1011=)
|
rs148434838
|
0.00011
|
|
NM_005154.5(USP8):c.3334C>T (p.Arg1112Ter)
|
rs142928952
|
0.00011
|
|
NM_005154.5(USP8):c.762G>A (p.Glu254=)
|
rs370876235
|
0.00011
|
|
NM_006070.6(TFG):c.256C>G (p.Leu86Val)
|
rs140174542
|
0.00011
|
|
NM_006070.6(TFG):c.395C>A (p.Ser132Tyr)
|
rs780219953
|
0.00011
|
|
NM_006070.6(TFG):c.672A>G (p.Pro224=)
|
rs141412018
|
0.00011
|
|
NM_006459.4(ERLIN1):c.430+4A>T
|
rs377363754
|
0.00011
|
|
NM_006567.5(FARS2):c.1082C>T (p.Pro361Leu)
|
rs751459058
|
0.00011
|
|
NM_006567.5(FARS2):c.792del (p.Asp265fs)
|
rs761097220
|
0.00011
|
|
NM_006612.6(KIF1C):c.3122G>A (p.Arg1041Gln)
|
rs201887996
|
0.00011
|
|
NM_006612.6(KIF1C):c.3272G>A (p.Arg1091His)
|
rs201800868
|
0.00011
|
|
NM_006612.6(KIF1C):c.941-17A>T
|
rs202231042
|
0.00011
|
|
NM_007347.5(AP4E1):c.1105A>C (p.Thr369Pro)
|
rs149682827
|
0.00011
|
|
NM_007347.5(AP4E1):c.3079C>T (p.Leu1027=)
|
rs187436884
|
0.00011
|
|
NM_012073.5(CCT5):c.531-3C>T
|
rs555534209
|
0.00011
|
|
NM_014363.6(SACS):c.4900G>C (p.Glu1634Gln)
|
rs143961484
|
0.00011
|
|
NM_014844.5(TECPR2):c.1125C>T (p.Val375=)
|
rs144187959
|
0.00011
|
|
NM_014844.5(TECPR2):c.2370C>T (p.Asp790=)
|
rs775511129
|
0.00011
|
|
NM_014844.5(TECPR2):c.3790-8G>A
|
rs772801372
|
0.00011
|
|
NM_014844.5(TECPR2):c.3882C>T (p.Thr1294=)
|
rs145556234
|
0.00011
|
|
NM_014844.5(TECPR2):c.4161G>A (p.Ser1387=)
|
rs150885756
|
0.00011
|
|
NM_014844.5(TECPR2):c.714C>T (p.Pro238=)
|
rs141078176
|
0.00011
|
|
NM_014844.5(TECPR2):c.818G>A (p.Arg273His)
|
rs144069125
|
0.00011
|
|
NM_014844.5(TECPR2):c.846C>T (p.Cys282=)
|
rs201691545
|
0.00011
|
|
NM_014846.4(WASHC5):c.1007G>C (p.Arg336Thr)
|
rs150430170
|
0.00011
|
|
NM_014846.4(WASHC5):c.2098-13G>A
|
rs375720047
|
0.00011
|
|
NM_014846.4(WASHC5):c.552C>T (p.Asp184=)
|
rs140203497
|
0.00011
|
|
NM_014846.4(WASHC5):c.639G>C (p.Gln213His)
|
rs141234822
|
0.00011
|
|
NM_014855.3(AP5Z1):c.*1562C>T
|
rs150159238
|
0.00011
|
|
NM_014855.3(AP5Z1):c.*241G>A
|
rs570957705
|
0.00011
|
|
NM_014855.3(AP5Z1):c.1003C>G (p.Leu335Val)
|
rs199930373
|
0.00011
|
|
NM_014855.3(AP5Z1):c.1595+16G>A
|
rs775187848
|
0.00011
|
|
NM_014855.3(AP5Z1):c.2386C>T (p.Arg796Trp)
|
rs764310871
|
0.00011
|
|
NM_014855.3(AP5Z1):c.765C>T (p.Pro255=)
|
rs750707781
|
0.00011
|
|
NM_014946.4(SPAST):c.661C>T (p.Arg221Cys)
|
rs371848866
|
0.00011
|
|
NM_015087.4(SPART):c.-261T>G
|
rs886050139
|
0.00011
|
|
NM_015087.5(SPART):c.*1187A>G
|
rs1219621714
|
0.00011
|
|
NM_015087.5(SPART):c.1689C>T (p.Ile563=)
|
rs201030352
|
0.00011
|
|
NM_015087.5(SPART):c.1769C>T (p.Ala590Val)
|
rs192704075
|
0.00011
|
|
NM_015346.4(ZFYVE26):c.*118G>A
|
rs530515248
|
0.00011
|
|
NM_015346.4(ZFYVE26):c.4974+12C>T
|
rs200969714
|
0.00011
|
|
NM_015346.4(ZFYVE26):c.5321-3C>T
|
rs376234357
|
0.00011
|
|
NM_015346.4(ZFYVE26):c.961A>C (p.Lys321Gln)
|
rs375820273
|
0.00011
|
|
NM_016630.7(SPG21):c.118C>T (p.Arg40Ter)
|
rs555126484
|
0.00011
|
|
NM_022089.4(ATP13A2):c.114C>T (p.Ser38=)
|
rs368279466
|
0.00011
|
|
NM_022089.4(ATP13A2):c.1536C>T (p.Phe512=)
|
rs536306337
|
0.00011
|
|
NM_022089.4(ATP13A2):c.1767G>A (p.Pro589=)
|
rs752208167
|
0.00011
|
|
NM_022089.4(ATP13A2):c.252C>T (p.His84=)
|
rs554944790
|
0.00011
|
|
NM_022089.4(ATP13A2):c.2593G>A (p.Glu865Lys)
|
rs148534162
|
0.00011
|
|
NM_022089.4(ATP13A2):c.2655C>T (p.Ala885=)
|
rs371975975
|
0.00011
|
|
NM_022089.4(ATP13A2):c.3439C>T (p.Arg1147Cys)
|
rs370421723
|
0.00011
|
|
NM_024306.5(FA2H):c.*653G>A
|
rs553741220
|
0.00011
|
|
NM_024989.4(PGAP1):c.55T>C (p.Phe19Leu)
|
rs749719250
|
0.00011
|
|
NM_025137.4(SPG11):c.1562A>G (p.Asn521Ser)
|
rs143528472
|
0.00011
|
|
NM_025137.4(SPG11):c.1869G>A (p.Lys623=)
|
rs374873830
|
0.00011
|
|
NM_025137.4(SPG11):c.3146-18C>T
|
rs540613714
|
0.00011
|
|
NM_025137.4(SPG11):c.328A>G (p.Asn110Asp)
|
rs139498464
|
0.00011
|
|
NM_025137.4(SPG11):c.3549T>G (p.Ser1183=)
|
rs751428578
|
0.00011
|
|
NM_025137.4(SPG11):c.3558C>G (p.Asp1186Glu)
|
rs201902382
|
0.00011
|
|
NM_025137.4(SPG11):c.4365G>C (p.Trp1455Cys)
|
rs138103656
|
0.00011
|
|
NM_025137.4(SPG11):c.44G>A (p.Gly15Asp)
|
rs763155228
|
0.00011
|
|
NM_025137.4(SPG11):c.5381T>C (p.Leu1794Pro)
|
rs201689565
|
0.00011
|
|
NM_031448.6(C19orf12):c.234G>A (p.Met78Ile)
|
rs778586471
|
0.00011
|
|
NM_144599.5(NIPA1):c.315C>T (p.Phe105=)
|
rs373273269
|
0.00011
|
|
NM_001010867.4(IBA57):c.1032C>T (p.Ala344=)
|
rs371687353
|
0.00010
|
|
NM_001160148.2(DDHD1):c.278C>T (p.Ser93Phe)
|
rs368145864
|
0.00010
|
|
NM_001166114.2(PNPLA6):c.1357G>A (p.Ala453Thr)
|
rs761591000
|
0.00010
|
|
NM_001166114.2(PNPLA6):c.796-11C>T
|
rs758381371
|
0.00010
|
|
NM_001244008.2(KIF1A):c.*552G>A
|
rs866854968
|
0.00010
|
|
NM_001244008.2(KIF1A):c.4308G>A (p.Ala1436=)
|
rs370868080
|
0.00010
|
|
NM_001244008.2(KIF1A):c.4623C>G (p.Pro1541=)
|
rs556138159
|
0.00010
|
|
NM_001244008.2(KIF1A):c.4847G>A (p.Arg1616Gln)
|
rs770999382
|
0.00010
|
|
NM_001244008.2(KIF1A):c.774G>A (p.Thr258=)
|
rs774916700
|
0.00010
|
|
NM_001253852.3(AP4B1):c.1148T>C (p.Val383Ala)
|
rs757927686
|
0.00010
|
|
NM_001351169.2(NT5C2):c.942T>C (p.Ile314=)
|
rs144333777
|
0.00010
|
|
NM_001368809.2(AMPD2):c.1080+9T>C
|
rs202160763
|
0.00010
|
|
NM_001368809.2(AMPD2):c.174G>A (p.Pro58=)
|
rs760164880
|
0.00010
|
|
NM_001371279.1(REEP1):c.*2200C>A
|
rs772358643
|
0.00010
|
|
NM_001371279.1(REEP1):c.*2380C>T
|
rs551489805
|
0.00010
|
|
NM_001776.6(ENTPD1):c.920T>A (p.Met307Lys)
|
rs373236811
|
0.00010
|
|
NM_002361.4(MAG):c.47-10T>G
|
rs776468293
|
0.00010
|
|
NM_002361.4(MAG):c.681G>A (p.Gln227=)
|
rs201129547
|
0.00010
|
|
NM_002860.4(ALDH18A1):c.219C>T (p.Ile73=)
|
rs148228931
|
0.00010
|
|
NM_002860.4(ALDH18A1):c.4T>C (p.Leu2=)
|
rs755446179
|
0.00010
|
|
NM_002860.4(ALDH18A1):c.589G>C (p.Glu197Gln)
|
rs201691969
|
0.00010
|
|
NM_003119.4(SPG7):c.1275C>T (p.Ser425=)
|
rs778305316
|
0.00010
|
|
NM_003119.4(SPG7):c.1664-13G>A
|
rs376384545
|
0.00010
|
|
NM_003119.4(SPG7):c.1672A>T (p.Lys558Ter)
|
rs369227537
|
0.00010
|
|
NM_003119.4(SPG7):c.338A>G (p.Lys113Arg)
|
rs771130240
|
0.00010
|
|
NM_003119.4(SPG7):c.619C>T (p.Arg207Trp)
|
rs199751531
|
0.00010
|
|
NM_003119.4(SPG7):c.638G>A (p.Arg213Gln)
|
rs147673636
|
0.00010
|
|
NM_004733.4(SLC33A1):c.1505C>T (p.Ser502Leu)
|
rs149578822
|
0.00010
|
|
NM_004820.5(CYP7B1):c.122+9C>T
|
rs968898541
|
0.00010
|
|
NM_004820.5(CYP7B1):c.850+5G>C
|
rs202155727
|
0.00010
|
|
NM_004984.4(KIF5A):c.152G>A (p.Arg51His)
|
rs773336059
|
0.00010
|
|
NM_004984.4(KIF5A):c.1932G>A (p.Thr644=)
|
rs370644634
|
0.00010
|
|
NM_006612.6(KIF1C):c.339A>G (p.Pro113=)
|
rs142773987
|
0.00010
|
|
NM_006612.6(KIF1C):c.447C>T (p.Ile149=)
|
rs767820925
|
0.00010
|
|
NM_012073.5(CCT5):c.1132A>G (p.Lys378Glu)
|
rs773314762
|
0.00010
|
|
NM_014363.6(SACS):c.5368G>A (p.Ala1790Thr)
|
rs147517201
|
0.00010
|
|
NM_014844.5(TECPR2):c.-3G>A
|
rs190179991
|
0.00010
|
|
NM_014844.5(TECPR2):c.2900C>T (p.Pro967Leu)
|
rs140434256
|
0.00010
|
|
NM_014844.5(TECPR2):c.3990C>T (p.Asn1330=)
|
rs757779692
|
0.00010
|
|
NM_014855.3(AP5Z1):c.*896C>T
|
rs886062356
|
0.00010
|
|
NM_014855.3(AP5Z1):c.1132+7C>T
|
rs775865217
|
0.00010
|
|
NM_014855.3(AP5Z1):c.2014G>A (p.Glu672Lys)
|
rs145463842
|
0.00010
|
|
NM_014855.3(AP5Z1):c.2248C>A (p.Arg750=)
|
rs376075136
|
0.00010
|
|
NM_014855.3(AP5Z1):c.2354C>G (p.Thr785Arg)
|
rs567731124
|
0.00010
|
|
NM_014855.3(AP5Z1):c.636C>T (p.Thr212=)
|
rs777143531
|
0.00010
|
|
NM_014946.4(SPAST):c.324G>C (p.Val108=)
|
rs750637923
|
0.00010
|
|
NM_015087.5(SPART):c.852G>A (p.Pro284=)
|
rs571222120
|
0.00010
|
|
NM_015214.3(DDHD2):c.1058-13A>G
|
rs371362810
|
0.00010
|
|
NM_015214.3(DDHD2):c.1125+20A>C
|
rs370899112
|
0.00010
|
|
NM_015915.5(ATL1):c.*212T>A
|
rs372073012
|
0.00010
|
|
NM_015915.5(ATL1):c.306C>A (p.Asp102Glu)
|
rs145204580
|
0.00010
|
|
NM_020738.4(KIDINS220):c.207+3A>G
|
rs374940372
|
0.00010
|
|
NM_020919.4(ALS2):c.331G>A (p.Val111Ile)
|
rs61745503
|
0.00010
|
|
NM_022089.4(ATP13A2):c.2709C>G (p.Val903=)
|
rs145455452
|
0.00010
|
|
NM_022089.4(ATP13A2):c.839A>G (p.Lys280Arg)
|
rs148094721
|
0.00010
|
|
NM_022089.4(ATP13A2):c.844A>T (p.Ser282Cys)
|
rs538497077
|
0.00010
|
|
NM_024306.5(FA2H):c.786+7G>A
|
rs368669121
|
0.00010
|
|
NM_024306.5(FA2H):c.844G>A (p.Gly282Ser)
|
rs199815871
|
0.00010
|
|
NM_025137.4(SPG11):c.5608T>C (p.Leu1870=)
|
rs4254299
|
0.00010
|
|
NM_025137.4(SPG11):c.6477+18C>T
|
rs770736243
|
0.00010
|
|
NM_144599.5(NIPA1):c.*4496A>T
|
rs186274091
|
0.00010
|
|
NM_144599.5(NIPA1):c.*886C>T
|
rs886051002
|
0.00010
|
|
NM_000277.3(PAH):c.838G>A (p.Glu280Lys)
|
rs62508698
|
0.00009
|
|
NM_001128126.3(AP4S1):c.289C>T (p.Arg97Ter)
|
rs200440467
|
0.00009
|
|
NM_001128126.3(AP4S1):c.83G>A (p.Arg28His)
|
rs201972703
|
0.00009
|
|
NM_001160148.2(DDHD1):c.1673A>G (p.Gln558Arg)
|
rs199607183
|
0.00009
|
|
NM_001166114.2(PNPLA6):c.1205C>T (p.Ser402Leu)
|
rs372193709
|
0.00009
|
|
NM_001166114.2(PNPLA6):c.3181C>T (p.His1061Tyr)
|
rs753273617
|
0.00009
|
|
NM_001166114.2(PNPLA6):c.3724G>A (p.Ala1242Thr)
|
rs755872517
|
0.00009
|
|
NM_001166114.2(PNPLA6):c.648G>A (p.Pro216=)
|
rs566213812
|
0.00009
|
|
NM_001199753.2(CPT1C):c.1894G>A (p.Val632Met)
|
rs141139944
|
0.00009
|
|
NM_001199753.2(CPT1C):c.2259C>T (p.Asp753=)
|
rs138794903
|
0.00009
|
|
NM_001244008.2(KIF1A):c.*2160T>C
|
rs886055830
|
0.00009
|
|
NM_001244008.2(KIF1A):c.*3373G>C
|
rs983893149
|
0.00009
|
|
NM_001244008.2(KIF1A):c.1890C>T (p.Phe630=)
|
rs374362504
|
0.00009
|
|
NM_001244008.2(KIF1A):c.2319C>T (p.Pro773=)
|
rs372521119
|
0.00009
|
|
NM_001244008.2(KIF1A):c.2925C>T (p.Ser975=)
|
rs556611351
|
0.00009
|
|
NM_001244008.2(KIF1A):c.3465C>T (p.Asn1155=)
|
rs371782922
|
0.00009
|
|
NM_001244008.2(KIF1A):c.3871C>T (p.Arg1291Cys)
|
rs199998986
|
0.00009
|
|
NM_001244008.2(KIF1A):c.4110C>T (p.Ser1370=)
|
rs374134509
|
0.00009
|
|
NM_001244008.2(KIF1A):c.4123-11G>A
|
rs369835159
|
0.00009
|
|
NM_001244008.2(KIF1A):c.4374C>T (p.Gly1458=)
|
rs375309925
|
0.00009
|
|
NM_001244008.2(KIF1A):c.4511C>T (p.Thr1504Ile)
|
rs371831198
|
0.00009
|
|
NM_001244008.2(KIF1A):c.459C>T (p.Arg153=)
|
rs201515208
|
0.00009
|
|
NM_001244008.2(KIF1A):c.5022-19C>T
|
rs369225438
|
0.00009
|
|
NM_001244008.2(KIF1A):c.5091C>T (p.Phe1697=)
|
rs372903282
|
0.00009
|
|
NM_001244008.2(KIF1A):c.5151G>T (p.Arg1717=)
|
rs183583788
|
0.00009
|
|
NM_001244008.2(KIF1A):c.5332C>T (p.Arg1778Trp)
|
rs765668490
|
0.00009
|
|
NM_001253852.3(AP4B1):c.1497G>T (p.Leu499Phe)
|
rs147573619
|
0.00009
|
|
NM_001253852.3(AP4B1):c.175A>G (p.Thr59Ala)
|
rs151293980
|
0.00009
|
|
NM_001253852.3(AP4B1):c.577G>A (p.Val193Ile)
|
rs376478015
|
0.00009
|
|
NM_001271803.2(REEP2):c.252C>T (p.Ser84=)
|
rs766974492
|
0.00009
|
|
NM_001278116.2(L1CAM):c.1293G>A (p.Ala431=)
|
rs137967792
|
0.00009
|
|
NM_001278116.2(L1CAM):c.2232C>T (p.Asn744=)
|
rs201081454
|
0.00009
|
|
NM_001278116.2(L1CAM):c.2537G>T (p.Arg846Leu)
|
rs149737236
|
0.00009
|
|
NM_001351169.2(NT5C2):c.141G>C (p.Lys47Asn)
|
rs72846108
|
0.00009
|
|
NM_001351169.2(NT5C2):c.1564C>T (p.His522Tyr)
|
rs368467266
|
0.00009
|
|
NM_001478.5(B4GALNT1):c.1545G>A (p.Met515Ile)
|
rs144984608
|
0.00009
|
|
NM_001776.6(ENTPD1):c.1190T>C (p.Ile397Thr)
|
rs142591047
|
0.00009
|
|
NM_001776.6(ENTPD1):c.229G>A (p.Val77Met)
|
rs199915134
|
0.00009
|
|
NM_002361.4(MAG):c.325C>A (p.Pro109Thr)
|
rs746889149
|
0.00009
|
|
NM_002860.4(ALDH18A1):c.1248G>A (p.Gly416=)
|
rs757733068
|
0.00009
|
|
NM_002860.4(ALDH18A1):c.1264C>G (p.Leu422Val)
|
rs142712849
|
0.00009
|
|
NM_002860.4(ALDH18A1):c.1273C>T (p.Arg425Cys)
|
rs762742204
|
0.00009
|
|
NM_002860.4(ALDH18A1):c.194G>T (p.Ser65Ile)
|
rs142746793
|
0.00009
|
|
NM_003119.4(SPG7):c.1053C>T (p.Pro351=)
|
rs762689331
|
0.00009
|
|
NM_003119.4(SPG7):c.1324+18C>T
|
rs372803371
|
0.00009
|
|
NM_003119.4(SPG7):c.161A>G (p.Glu54Gly)
|
rs750617337
|
0.00009
|
|
NM_003119.4(SPG7):c.1971C>T (p.Ile657=)
|
rs140356355
|
0.00009
|
|
NM_003119.4(SPG7):c.454A>G (p.Met152Val)
|
rs146186857
|
0.00009
|
|
NM_003119.4(SPG7):c.483C>T (p.Ser161=)
|
rs144509309
|
0.00009
|
|
NM_003119.4(SPG7):c.584A>G (p.Tyr195Cys)
|
rs145776296
|
0.00009
|
|
NM_004722.4(AP4M1):c.1128C>T (p.Gly376=)
|
rs372787797
|
0.00009
|
|
NM_004722.4(AP4M1):c.1293C>T (p.Cys431=)
|
rs151301464
|
0.00009
|
|
NM_004733.4(SLC33A1):c.1559T>C (p.Ile520Thr)
|
rs777143987
|
0.00009
|
|
NM_004820.5(CYP7B1):c.757A>G (p.Lys253Glu)
|
rs200328073
|
0.00009
|
|
NM_004984.4(KIF5A):c.2775C>A (p.Gly925=)
|
rs759750438
|
0.00009
|
|
NM_005154.5(USP8):c.1922G>A (p.Ser641Asn)
|
rs372108112
|
0.00009
|
|
NM_005619.5(RTN2):c.1210G>A (p.Val404Met)
|
rs200512597
|
0.00009
|
|
NM_006459.4(ERLIN1):c.728G>A (p.Arg243His)
|
rs781383034
|
0.00009
|
|
NM_006459.4(ERLIN1):c.878C>A (p.Ser293Tyr)
|
rs755659573
|
0.00009
|
|
NM_006517.5(SLC16A2):c.111T>A (p.Pro37=)
|
rs762215475
|
0.00009
|
|
NM_006612.6(KIF1C):c.1310C>T (p.Pro437Leu)
|
rs148619121
|
0.00009
|
|
NM_006612.6(KIF1C):c.1346A>G (p.Lys449Arg)
|
rs142046798
|
0.00009
|
|
NM_006612.6(KIF1C):c.1365C>T (p.Asn455=)
|
rs142825776
|
0.00009
|
|
NM_006612.6(KIF1C):c.2676G>A (p.Pro892=)
|
rs200822779
|
0.00009
|
|
NM_006612.6(KIF1C):c.568G>A (p.Ala190Thr)
|
rs752855724
|
0.00009
|
|
NM_007347.5(AP4E1):c.932A>G (p.Asn311Ser)
|
rs536656846
|
0.00009
|
|
NM_012073.5(CCT5):c.753C>T (p.Leu251=)
|
rs755384536
|
0.00009
|
|
NM_014363.6(SACS):c.1463C>T (p.Pro488Leu)
|
rs375875022
|
0.00009
|
|
NM_014844.5(TECPR2):c.1128C>T (p.His376=)
|
rs146157601
|
0.00009
|
|
NM_014844.5(TECPR2):c.1173G>A (p.Thr391=)
|
rs747637703
|
0.00009
|
|
NM_014844.5(TECPR2):c.1477C>T (p.Pro493Ser)
|
rs150165045
|
0.00009
|
|
NM_014844.5(TECPR2):c.1784C>T (p.Thr595Met)
|
rs150893437
|
0.00009
|
|
NM_014844.5(TECPR2):c.1926C>T (p.Val642=)
|
rs770279871
|
0.00009
|
|
NM_014844.5(TECPR2):c.2234G>A (p.Arg745Gln)
|
rs374972168
|
0.00009
|
|
NM_014844.5(TECPR2):c.318T>C (p.Leu106=)
|
rs769086551
|
0.00009
|
|
NM_014844.5(TECPR2):c.3582G>A (p.Thr1194=)
|
rs372271880
|
0.00009
|
|
NM_014844.5(TECPR2):c.67A>G (p.Ile23Val)
|
rs776524033
|
0.00009
|
|
NM_014846.4(WASHC5):c.122G>A (p.Arg41Lys)
|
rs200850741
|
0.00009
|
|
NM_014846.4(WASHC5):c.1942G>A (p.Asp648Asn)
|
rs758919422
|
0.00009
|
|
NM_014846.4(WASHC5):c.2139G>A (p.Glu713=)
|
rs201066199
|
0.00009
|
|
NM_014846.4(WASHC5):c.418-9T>G
|
rs760094704
|
0.00009
|
|
NM_014855.3(AP5Z1):c.*2328G>A
|
rs565562831
|
0.00009
|
|
NM_014855.3(AP5Z1):c.1322G>A (p.Trp441Ter)
|
rs373919408
|
0.00009
|
|
NM_014855.3(AP5Z1):c.1341C>T (p.Thr447=)
|
rs60284677
|
0.00009
|
|
NM_014855.3(AP5Z1):c.1795G>A (p.Gly599Ser)
|
rs369917291
|
0.00009
|
|
NM_014855.3(AP5Z1):c.259G>A (p.Ala87Thr)
|
rs775883752
|
0.00009
|
|
NM_014855.3(AP5Z1):c.59A>T (p.Glu20Val)
|
rs781743376
|
0.00009
|
|
NM_014855.3(AP5Z1):c.834C>T (p.Ser278=)
|
rs113192428
|
0.00009
|
|
NM_014855.3(AP5Z1):c.931+10C>A
|
rs377356001
|
0.00009
|
|
NM_014855.3(AP5Z1):c.970-12C>G
|
rs372506896
|
0.00009
|
|
NM_014946.4(SPAST):c.*1156T>C
|
rs546193636
|
0.00009
|
|
NM_014946.4(SPAST):c.1155G>A (p.Gly385=)
|
rs778305717
|
0.00009
|
|
NM_014946.4(SPAST):c.712C>A (p.Pro238Thr)
|
rs140094231
|
0.00009
|
|
NM_015087.5(SPART):c.364_365del (p.Met122fs)
|
rs775736341
|
0.00009
|
|
NM_015087.5(SPART):c.627G>A (p.Pro209=)
|
rs370385005
|
0.00009
|
|
NM_015214.3(DDHD2):c.1382C>T (p.Ala461Val)
|
rs201386329
|
0.00009
|
|
NM_015214.3(DDHD2):c.1744A>T (p.Met582Leu)
|
rs375064450
|
0.00009
|
|
NM_015214.3(DDHD2):c.1834T>G (p.Ser612Ala)
|
rs142193606
|
0.00009
|
|
NM_015214.3(DDHD2):c.1873A>C (p.Thr625Pro)
|
rs369779587
|
0.00009
|
|
NM_015214.3(DDHD2):c.277T>C (p.Leu93=)
|
rs544728429
|
0.00009
|
|
NM_015214.3(DDHD2):c.622+12C>T
|
rs185403049
|
0.00009
|
|
NM_015346.4(ZFYVE26):c.*277G>A
|
rs1003653826
|
0.00009
|
|
NM_015346.4(ZFYVE26):c.4035G>T (p.Val1345=)
|
rs374530573
|
0.00009
|
|
NM_015346.4(ZFYVE26):c.5834G>A (p.Arg1945Gln)
|
rs200595749
|
0.00009
|
|
NM_015346.4(ZFYVE26):c.6135C>T (p.Ala2045=)
|
rs146209388
|
0.00009
|
|
NM_015346.4(ZFYVE26):c.6339A>G (p.Leu2113=)
|
rs764363798
|
0.00009
|
|
NM_015346.4(ZFYVE26):c.646G>A (p.Asp216Asn)
|
rs562335179
|
0.00009
|
|
NM_015346.4(ZFYVE26):c.951C>T (p.Ala317=)
|
rs142029189
|
0.00009
|
|
NM_015915.5(ATL1):c.322A>G (p.Thr108Ala)
|
rs112496709
|
0.00009
|
|
NM_015915.5(ATL1):c.417+3A>G
|
rs200310890
|
0.00009
|
|
NM_016630.7(SPG21):c.223G>A (p.Ala75Thr)
|
rs760497590
|
0.00009
|
|
NM_016630.7(SPG21):c.243T>C (p.Tyr81=)
|
rs373904630
|
0.00009
|
|
NM_021830.5(TWNK):c.2050A>C (p.Lys684Gln)
|
rs369223258
|
0.00009
|
|
NM_022089.4(ATP13A2):c.233G>A (p.Arg78Gln)
|
rs773087322
|
0.00009
|
|
NM_022089.4(ATP13A2):c.255C>T (p.Ala85=)
|
rs369906056
|
0.00009
|
|
NM_022089.4(ATP13A2):c.2771G>A (p.Arg924His)
|
rs564643512
|
0.00009
|
|
NM_022089.4(ATP13A2):c.3518C>T (p.Pro1173Leu)
|
rs372995036
|
0.00009
|
|
NM_022089.4(ATP13A2):c.35C>T (p.Thr12Met)
|
rs151117874
|
0.00009
|
|
NM_022089.4(ATP13A2):c.396G>A (p.Ala132=)
|
rs140631323
|
0.00009
|
|
NM_022089.4(ATP13A2):c.477+2T>G
|
rs758014228
|
0.00009
|
|
NM_022089.4(ATP13A2):c.588C>T (p.Asp196=)
|
rs147384248
|
0.00009
|
|
NM_022089.4(ATP13A2):c.635+15G>A
|
rs563778719
|
0.00009
|
|
NM_022089.4(ATP13A2):c.880C>T (p.Arg294Trp)
|
rs144898239
|
0.00009
|
|
NM_024306.5(FA2H):c.*1188A>G
|
rs754403053
|
0.00009
|
|
NM_024306.5(FA2H):c.*506C>G
|
rs774188909
|
0.00009
|
|
NM_025137.4(SPG11):c.1457-4A>G
|
rs773844127
|
0.00009
|
|
NM_025137.4(SPG11):c.3320G>C (p.Cys1107Ser)
|
rs201271196
|
0.00009
|
|
NM_025137.4(SPG11):c.377A>G (p.Asp126Gly)
|
rs142097614
|
0.00009
|
|
NM_025137.4(SPG11):c.425T>C (p.Ile142Thr)
|
rs1428358542
|
0.00009
|
|
NM_025137.4(SPG11):c.4274A>G (p.Asn1425Ser)
|
rs142567993
|
0.00009
|
|
NM_025137.4(SPG11):c.4882G>C (p.Glu1628Gln)
|
rs763204091
|
0.00009
|
|
NM_025137.4(SPG11):c.6278G>A (p.Arg2093His)
|
rs376817637
|
0.00009
|
|
NM_025137.4(SPG11):c.6950G>A (p.Gly2317Asp)
|
rs79186522
|
0.00009
|
|
NM_025137.4(SPG11):c.7132T>C (p.Phe2378Leu)
|
rs150571352
|
0.00009
|
|
NM_144599.5(NIPA1):c.*1115C>T
|
rs759987319
|
0.00009
|
|
NM_144599.5(NIPA1):c.*3462A>G
|
rs766376279
|
0.00009
|
|
NM_144599.5(NIPA1):c.*3924T>C
|
rs563261299
|
0.00009
|
|
NM_152415.3(VPS37A):c.297C>G (p.Thr99=)
|
rs373508118
|
0.00009
|
|
NM_152415.3(VPS37A):c.929C>T (p.Thr310Ile)
|
rs146110170
|
0.00009
|
|
NM_183075.3(CYP2U1):c.1044T>C (p.Asp348=)
|
rs374633238
|
0.00009
|
|
NM_001010867.4(IBA57):c.259G>A (p.Gly87Arg)
|
rs1026408197
|
0.00008
|
|
NM_001010867.4(IBA57):c.680-5T>A
|
rs577050962
|
0.00008
|
|
NM_001122955.4(BSCL2):c.1202G>A (p.Gly401Glu)
|
rs767463971
|
0.00008
|
|
NM_001122955.4(BSCL2):c.88-19C>T
|
rs760935362
|
0.00008
|
|
NM_001160148.2(DDHD1):c.579C>T (p.Ala193=)
|
rs149564453
|
0.00008
|
|
NM_001160148.2(DDHD1):c.812G>T (p.Gly271Val)
|
rs747496321
|
0.00008
|
|
NM_001166114.2(PNPLA6):c.414-14T>C
|
rs953147743
|
0.00008
|
|
NM_001244008.2(KIF1A):c.*1487G>A
|
rs897826687
|
0.00008
|
|
NM_001244008.2(KIF1A):c.1596C>T (p.Gly532=)
|
rs754916421
|
0.00008
|
|
NM_001244008.2(KIF1A):c.3264G>A (p.Leu1088=)
|
rs374238759
|
0.00008
|
|
NM_001244008.2(KIF1A):c.3584+16C>T
|
rs773804422
|
0.00008
|
|
NM_001244008.2(KIF1A):c.3599C>T (p.Ser1200Leu)
|
rs763750448
|
0.00008
|
|
NM_001244008.2(KIF1A):c.5070G>A (p.Thr1690=)
|
rs201733233
|
0.00008
|
|
NM_001244008.2(KIF1A):c.5368C>T (p.Arg1790Trp)
|
rs375509312
|
0.00008
|
|
NM_001253852.3(AP4B1):c.1865C>T (p.Pro622Leu)
|
rs767679115
|
0.00008
|
|
NM_001253852.3(AP4B1):c.1868A>G (p.Asn623Ser)
|
rs201876159
|
0.00008
|
|
NM_001253852.3(AP4B1):c.2200A>G (p.Ile734Val)
|
rs79050956
|
0.00008
|
|
NM_001278116.2(L1CAM):c.1759G>C (p.Gly587Arg)
|
rs199888009
|
0.00008
|
|
NM_001368809.2(AMPD2):c.726G>A (p.Pro242=)
|
rs199980707
|
0.00008
|
|
NM_001371279.1(REEP1):c.105+10A>G
|
rs776380158
|
0.00008
|
|
NM_002156.5(HSPD1):c.428-15A>G
|
rs769110777
|
0.00008
|
|
NM_002361.4(MAG):c.1394G>A (p.Arg465His)
|
rs147583558
|
0.00008
|
|
NM_002860.4(ALDH18A1):c.678C>T (p.Val226=)
|
rs772829720
|
0.00008
|
|
NM_002860.4(ALDH18A1):c.868G>A (p.Gly290Arg)
|
rs368147360
|
0.00008
|
|
NM_002861.5(PCYT2):c.1009G>A (p.Gly337Ser)
|
rs578101513
|
0.00008
|
|
NM_003119.4(SPG7):c.1049C>A (p.Pro350His)
|
rs376254211
|
0.00008
|
|
NM_003119.4(SPG7):c.1213G>A (p.Val405Ile)
|
rs115999025
|
0.00008
|
|
NM_003119.4(SPG7):c.2058C>T (p.Ile686=)
|
rs776262023
|
0.00008
|
|
NM_003119.4(SPG7):c.2083C>G (p.Leu695Val)
|
rs754203248
|
0.00008
|
|
NM_003119.4(SPG7):c.2103+7C>T
|
rs372981678
|
0.00008
|
|
NM_004722.4(AP4M1):c.1341C>T (p.Asp447=)
|
rs551239733
|
0.00008
|
|
NM_004722.4(AP4M1):c.243A>G (p.Glu81=)
|
rs200156998
|
0.00008
|
|
NM_004722.4(AP4M1):c.771C>T (p.Ser257=)
|
rs545459309
|
0.00008
|
|
NM_004722.4(AP4M1):c.920G>C (p.Gly307Ala)
|
rs542768500
|
0.00008
|
|
NM_004820.5(CYP7B1):c.-2G>A
|
rs781116478
|
0.00008
|
|
NM_004820.5(CYP7B1):c.825T>A (p.Tyr275Ter)
|
rs121908613
|
0.00008
|
|
NM_004984.4(KIF5A):c.1714C>T (p.Leu572=)
|
rs138475832
|
0.00008
|
|
NM_004984.4(KIF5A):c.2672G>A (p.Arg891His)
|
rs767911747
|
0.00008
|
|
NM_006070.6(TFG):c.185-9A>T
|
rs778438842
|
0.00008
|
|
NM_006612.6(KIF1C):c.1353A>G (p.Ile451Met)
|
rs374100485
|
0.00008
|
|
NM_006612.6(KIF1C):c.1605C>T (p.Thr535=)
|
rs145893640
|
0.00008
|
|
NM_006612.6(KIF1C):c.3302del (p.Ala1101fs)
|
rs375445356
|
0.00008
|
|
NM_006612.6(KIF1C):c.500G>A (p.Arg167Gln)
|
rs199962814
|
0.00008
|
|
NM_006612.6(KIF1C):c.765C>T (p.Ala255=)
|
rs755969023
|
0.00008
|
|
NM_007175.8(ERLIN2):c.384C>T (p.Cys128=)
|
rs200292614
|
0.00008
|
|
NM_012073.5(CCT5):c.*1239C>G
|
rs886059759
|
0.00008
|
|
NM_012073.5(CCT5):c.*205T>C
|
rs533788803
|
0.00008
|
|
NM_012073.5(CCT5):c.*5A>C
|
rs533404395
|
0.00008
|
|
NM_012073.5(CCT5):c.1180-4T>C
|
rs751954199
|
0.00008
|
|
NM_012073.5(CCT5):c.424C>T (p.Arg142Cys)
|
rs572671693
|
0.00008
|
|
NM_014363.6(SACS):c.1026A>T (p.Lys342Asn)
|
rs190623423
|
0.00008
|
|
NM_014363.6(SACS):c.1912T>G (p.Cys638Gly)
|
rs200333323
|
0.00008
|
|
NM_014363.6(SACS):c.21-5C>T
|
rs565378672
|
0.00008
|
|
NM_014363.6(SACS):c.7394C>T (p.Ser2465Leu)
|
rs747676277
|
0.00008
|
|
NM_014844.5(TECPR2):c.1319del (p.Leu440fs)
|
rs750908377
|
0.00008
|
|
NM_014844.5(TECPR2):c.1741C>T (p.Leu581=)
|
rs759035233
|
0.00008
|
|
NM_014844.5(TECPR2):c.2307G>A (p.Thr769=)
|
rs368168319
|
0.00008
|
|
NM_014844.5(TECPR2):c.3873C>T (p.His1291=)
|
rs377631259
|
0.00008
|
|
NM_014855.3(AP5Z1):c.*1003C>A
|
rs565631932
|
0.00008
|
|
NM_014855.3(AP5Z1):c.1026C>T (p.Phe342=)
|
rs759537675
|
0.00008
|
|
NM_014855.3(AP5Z1):c.1175T>C (p.Leu392Pro)
|
rs772560472
|
0.00008
|
|
NM_014855.3(AP5Z1):c.1938+11C>T
|
rs201888478
|
0.00008
|
|
NM_014855.3(AP5Z1):c.2407G>A (p.Gly803Ser)
|
rs201682318
|
0.00008
|
|
NM_014855.3(AP5Z1):c.329G>A (p.Arg110Gln)
|
rs201481802
|
0.00008
|
|
NM_014855.3(AP5Z1):c.366+4G>A
|
rs776790989
|
0.00008
|
|
NM_014855.3(AP5Z1):c.864G>A (p.Pro288=)
|
rs372643577
|
0.00008
|
|
NM_014946.4(SPAST):c.*494C>T
|
rs886055967
|
0.00008
|
|
NM_015046.7(SETX):c.5271A>G (p.Glu1757=)
|
rs200499115
|
0.00008
|
|
NM_015214.3(DDHD2):c.1386C>T (p.Asn462=)
|
rs137874590
|
0.00008
|
|
NM_015346.4(ZFYVE26):c.4293G>C (p.Gln1431His)
|
rs373740172
|
0.00008
|
|
NM_015346.4(ZFYVE26):c.4324G>A (p.Asp1442Asn)
|
rs534497092
|
0.00008
|
|
NM_015346.4(ZFYVE26):c.4974+5G>A
|
rs757204134
|
0.00008
|
|
NM_015346.4(ZFYVE26):c.684C>T (p.Pro228=)
|
rs369761894
|
0.00008
|
|
NM_015346.4(ZFYVE26):c.7358G>C (p.Arg2453Thr)
|
rs767313762
|
0.00008
|
|
NM_020919.4(ALS2):c.366G>A (p.Gln122=)
|
rs775483404
|
0.00008
|
|
NM_022089.4(ATP13A2):c.1079G>A (p.Gly360Glu)
|
rs566918264
|
0.00008
|
|
NM_022089.4(ATP13A2):c.1629T>A (p.Pro543=)
|
rs369352100
|
0.00008
|
|
NM_022089.4(ATP13A2):c.2236G>A (p.Ala746Thr)
|
rs147277743
|
0.00008
|
|
NM_022089.4(ATP13A2):c.2951C>T (p.Ala984Val)
|
rs375552345
|
0.00008
|
|
NM_022089.4(ATP13A2):c.3320C>T (p.Ala1107Val)
|
rs755307953
|
0.00008
|
|
NM_025137.4(SPG11):c.1515C>G (p.Leu505=)
|
rs148556593
|
0.00008
|
|
NM_025137.4(SPG11):c.1602+10T>G
|
rs201535432
|
0.00008
|
|
NM_025137.4(SPG11):c.2621-18G>T
|
rs192547979
|
0.00008
|
|
NM_025137.4(SPG11):c.4093T>C (p.Cys1365Arg)
|
rs144695607
|
0.00008
|
|
NM_025137.4(SPG11):c.4260C>T (p.Ser1420=)
|
rs150130615
|
0.00008
|
|
NM_025137.4(SPG11):c.5599G>A (p.Glu1867Lys)
|
rs372419484
|
0.00008
|
|
NM_025137.4(SPG11):c.5966A>G (p.Asn1989Ser)
|
rs375896392
|
0.00008
|
|
NM_025137.4(SPG11):c.6205+12C>G
|
rs373329133
|
0.00008
|
|
NM_144599.5(NIPA1):c.*4792G>T
|
rs139161065
|
0.00008
|
|
NM_144599.5(NIPA1):c.*652A>G
|
rs886051004
|
0.00008
|
|
NM_144599.5(NIPA1):c.448G>T (p.Ala150Ser)
|
rs376665085
|
0.00008
|
|
NM_001010867.4(IBA57):c.150C>T (p.Cys50=)
|
rs765132163
|
0.00007
|
|
NM_001010867.4(IBA57):c.748A>G (p.Met250Val)
|
rs370640121
|
0.00007
|
|
NM_001122955.4(BSCL2):c.895G>A (p.Ala299Thr)
|
rs141377075
|
0.00007
|
|
NM_001160148.2(DDHD1):c.2432C>G (p.Ser811Cys)
|
rs193261227
|
0.00007
|
|
NM_001166114.2(PNPLA6):c.1270C>T (p.Arg424Cys)
|
rs763561590
|
0.00007
|
|
NM_001166114.2(PNPLA6):c.1608+10_1608+15del
|
rs766997730
|
0.00007
|
|
NM_001166114.2(PNPLA6):c.217A>G (p.Arg73Gly)
|
rs781291417
|
0.00007
|
|
NM_001166114.2(PNPLA6):c.3450G>A (p.Gly1150=)
|
rs367675784
|
0.00007
|
|
NM_001166114.2(PNPLA6):c.492C>T (p.Thr164=)
|
rs778359563
|
0.00007
|
|
NM_001199753.2(CPT1C):c.141+10G>A
|
rs138313329
|
0.00007
|
|
NM_001199753.2(CPT1C):c.996C>T (p.His332=)
|
rs199774629
|
0.00007
|
|
NM_001244008.2(KIF1A):c.*35C>A
|
rs375874661
|
0.00007
|
|
NM_001244008.2(KIF1A):c.*830C>T
|
rs773115422
|
0.00007
|
|
NM_001244008.2(KIF1A):c.137C>T (p.Thr46Met)
|
rs182395595
|
0.00007
|
|
NM_001244008.2(KIF1A):c.1768+17C>T
|
rs756389398
|
0.00007
|
|
NM_001244008.2(KIF1A):c.2341G>A (p.Ala781Thr)
|
rs369842871
|
0.00007
|
|
NM_001244008.2(KIF1A):c.3202+7C>T
|
rs781712580
|
0.00007
|
|
NM_001244008.2(KIF1A):c.4512C>T (p.Thr1504=)
|
rs377180036
|
0.00007
|
|
NM_001244008.2(KIF1A):c.4665+4G>C
|
rs772449700
|
0.00007
|
|
NM_001244008.2(KIF1A):c.4821C>T (p.Ser1607=)
|
rs371014474
|
0.00007
|
|
NM_001244008.2(KIF1A):c.5087G>A (p.Arg1696His)
|
rs756912340
|
0.00007
|
|
NM_001253852.3(AP4B1):c.647C>A (p.Ala216Asp)
|
rs752781534
|
0.00007
|
|
NM_001271803.2(REEP2):c.255C>T (p.Ser85=)
|
rs373285211
|
0.00007
|
|
NM_001371279.1(REEP1):c.*1733T>C
|
rs766272571
|
0.00007
|
|
NM_001371279.1(REEP1):c.396G>A (p.Ala132=)
|
rs377712421
|
0.00007
|
|
NM_002361.4(MAG):c.1231+13C>T
|
rs201779990
|
0.00007
|
|
NM_002361.4(MAG):c.685G>C (p.Glu229Gln)
|
rs202166521
|
0.00007
|
|
NM_002693.3(POLG):c.3559C>T (p.Arg1187Trp)
|
rs369544574
|
0.00007
|
|
NM_002860.4(ALDH18A1):c.1604T>A (p.Leu535Gln)
|
rs200452017
|
0.00007
|
|
NM_002860.4(ALDH18A1):c.2110+13A>G
|
rs375782465
|
0.00007
|
|
NM_002860.4(ALDH18A1):c.973G>A (p.Val325Ile)
|
rs192770256
|
0.00007
|
|
NM_003119.4(SPG7):c.1663+9G>A
|
rs756489401
|
0.00007
|
|
NM_003119.4(SPG7):c.1937-15G>A
|
rs201272528
|
0.00007
|
|
NM_003119.4(SPG7):c.306C>T (p.Asn102=)
|
rs147397994
|
0.00007
|
|
NM_004722.4(AP4M1):c.514C>T (p.Arg172Cys)
|
rs141174349
|
0.00007
|
|
NM_004820.5(CYP7B1):c.125G>A (p.Arg42Lys)
|
rs375384257
|
0.00007
|
|
NM_004820.5(CYP7B1):c.334C>T (p.Arg112Ter)
|
rs200737038
|
0.00007
|
|
NM_004984.4(KIF5A):c.1926G>A (p.Ser642=)
|
rs377649745
|
0.00007
|
|
NM_004984.4(KIF5A):c.2955C>T (p.Gly985=)
|
rs202074843
|
0.00007
|
|
NM_004984.4(KIF5A):c.820-9C>A
|
rs185306438
|
0.00007
|
|
NM_005154.5(USP8):c.2297A>G (p.Asn766Ser)
|
rs144130206
|
0.00007
|
|
NM_005154.5(USP8):c.397C>T (p.Arg133Trp)
|
rs202135045
|
0.00007
|
|
NM_006070.6(TFG):c.581-6A>C
|
rs369615915
|
0.00007
|
|
NM_006612.6(KIF1C):c.1292C>T (p.Thr431Met)
|
rs139663513
|
0.00007
|
|
NM_006612.6(KIF1C):c.2366C>T (p.Pro789Leu)
|
rs377528420
|
0.00007
|
|
NM_006612.6(KIF1C):c.363+5G>A
|
rs371500484
|
0.00007
|
|
NM_007347.5(AP4E1):c.441A>G (p.Leu147=)
|
rs776915189
|
0.00007
|
|
NM_012073.5(CCT5):c.-48C>T
|
rs574425461
|
0.00007
|
|
NM_014363.6(SACS):c.11066C>A (p.Pro3689Gln)
|
rs148925505
|
0.00007
|
|
NM_014844.5(TECPR2):c.1255G>A (p.Gly419Ser)
|
rs779431365
|
0.00007
|
|
NM_014844.5(TECPR2):c.2250G>A (p.Thr750=)
|
rs182655288
|
0.00007
|
|
NM_014844.5(TECPR2):c.22G>C (p.Val8Leu)
|
rs117112831
|
0.00007
|
|
NM_014844.5(TECPR2):c.3087G>A (p.Thr1029=)
|
rs374084038
|
0.00007
|
|
NM_014844.5(TECPR2):c.3991G>A (p.Gly1331Arg)
|
rs143705801
|
0.00007
|
|
NM_014844.5(TECPR2):c.4066G>A (p.Val1356Met)
|
rs753581977
|
0.00007
|
|
NM_014844.5(TECPR2):c.4081+10C>T
|
rs745954864
|
0.00007
|
|
NM_014846.4(WASHC5):c.1522-10T>A
|
rs200283018
|
0.00007
|
|
NM_014846.4(WASHC5):c.2580C>T (p.Leu860=)
|
rs375214976
|
0.00007
|
|
NM_014846.4(WASHC5):c.3296T>C (p.Ile1099Thr)
|
rs373599521
|
0.00007
|
|
NM_014846.4(WASHC5):c.451C>T (p.Leu151=)
|
rs6470336
|
0.00007
|
|
NM_014855.3(AP5Z1):c.1617G>C (p.Leu539=)
|
rs569601905
|
0.00007
|
|
NM_014855.3(AP5Z1):c.1708-16C>T
|
rs551043856
|
0.00007
|
|
NM_014855.3(AP5Z1):c.2010C>A (p.Phe670Leu)
|
rs750796286
|
0.00007
|
|
NM_014855.3(AP5Z1):c.2013C>T (p.Phe671=)
|
rs750771636
|
0.00007
|
|
NM_014855.3(AP5Z1):c.500C>A (p.Thr167Asn)
|
rs748108455
|
0.00007
|
|
NM_014946.4(SPAST):c.1809G>A (p.Ala603=)
|
rs769450158
|
0.00007
|
|
NM_015087.5(SPART):c.*2280T>C
|
rs1038604361
|
0.00007
|
|
NM_015214.3(DDHD2):c.21A>G (p.Gln7=)
|
rs182341575
|
0.00007
|
|
NM_015214.3(DDHD2):c.566G>T (p.Gly189Val)
|
rs776830636
|
0.00007
|
|
NM_015214.3(DDHD2):c.628C>A (p.Pro210Thr)
|
rs376771682
|
0.00007
|
|
NM_015346.4(ZFYVE26):c.6247C>T (p.Arg2083Trp)
|
rs771396332
|
0.00007
|
|
NM_015346.4(ZFYVE26):c.6789C>T (p.Asp2263=)
|
rs372463199
|
0.00007
|
|
NM_015346.4(ZFYVE26):c.7416+6C>T
|
rs371196543
|
0.00007
|
|
NM_015346.4(ZFYVE26):c.763C>T (p.Arg255Trp)
|
rs267604034
|
0.00007
|
|
NM_015346.4(ZFYVE26):c.991A>G (p.Asn331Asp)
|
rs199630965
|
0.00007
|
|
NM_015915.5(ATL1):c.1213G>A (p.Val405Met)
|
rs201240362
|
0.00007
|
|
NM_022089.4(ATP13A2):c.1658G>A (p.Arg553Gln)
|
rs376011760
|
0.00007
|
|
NM_022089.4(ATP13A2):c.197G>A (p.Arg66His)
|
rs367745335
|
0.00007
|
|
NM_022089.4(ATP13A2):c.2326G>C (p.Val776Leu)
|
rs56170027
|
0.00007
|
|
NM_022089.4(ATP13A2):c.3057del (p.Tyr1020fs)
|
rs765632065
|
0.00007
|
|
NM_022089.4(ATP13A2):c.3193G>A (p.Val1065Met)
|
rs377431904
|
0.00007
|
|
NM_022089.4(ATP13A2):c.3297C>T (p.Pro1099=)
|
rs756650754
|
0.00007
|
|
NM_022089.4(ATP13A2):c.3409G>A (p.Val1137Met)
|
rs528943677
|
0.00007
|
|
NM_022089.4(ATP13A2):c.3473G>A (p.Arg1158His)
|
rs544885605
|
0.00007
|
|
NM_022089.4(ATP13A2):c.3539G>A (p.Arg1180Lys)
|
rs771312962
|
0.00007
|
|
NM_022089.4(ATP13A2):c.528C>T (p.Ile176=)
|
rs371992028
|
0.00007
|
|
NM_025137.4(SPG11):c.10G>A (p.Glu4Lys)
|
rs765163502
|
0.00007
|
|
NM_025137.4(SPG11):c.1801C>A (p.Pro601Thr)
|
rs775799559
|
0.00007
|
|
NM_025137.4(SPG11):c.2012A>G (p.His671Arg)
|
rs189306815
|
0.00007
|
|
NM_025137.4(SPG11):c.3038+14A>G
|
rs774593393
|
0.00007
|
|
NM_025137.4(SPG11):c.31G>C (p.Ala11Pro)
|
rs529316227
|
0.00007
|
|
NM_025137.4(SPG11):c.3648G>A (p.Leu1216=)
|
rs370282739
|
0.00007
|
|
NM_025137.4(SPG11):c.5770A>G (p.Met1924Val)
|
rs949342628
|
0.00007
|
|
NM_025137.4(SPG11):c.6193T>C (p.Ser2065Pro)
|
rs568406743
|
0.00007
|
|
NM_025137.4(SPG11):c.6410G>A (p.Arg2137Gln)
|
rs200283964
|
0.00007
|
|
NM_025137.4(SPG11):c.6699G>A (p.Glu2233=)
|
rs778848426
|
0.00007
|
|
NM_025137.4(SPG11):c.841G>T (p.Val281Phe)
|
rs754144151
|
0.00007
|
|
NM_025137.4(SPG11):c.869+20T>C
|
rs372186278
|
0.00007
|
|
NM_031448.6(C19orf12):c.*3C>T
|
rs372139389
|
0.00007
|
|
NM_144599.5(NIPA1):c.*2020C>T
|
rs185496552
|
0.00007
|
|
NM_144599.5(NIPA1):c.*2405A>G
|
rs886050995
|
0.00007
|
|
NM_144599.5(NIPA1):c.*3707G>C
|
rs373829118
|
0.00007
|
|
NM_152415.3(VPS37A):c.96G>C (p.Leu32=)
|
rs199577037
|
0.00007
|
|
NM_183075.3(CYP2U1):c.671T>C (p.Ile224Thr)
|
rs139692261
|
0.00007
|
|
NM_001010867.4(IBA57):c.162C>T (p.Asp54=)
|
rs762720562
|
0.00006
|
|
NM_001010867.4(IBA57):c.342-14C>T
|
rs368178420
|
0.00006
|
|
NM_001010867.4(IBA57):c.679+3A>G
|
rs754620334
|
0.00006
|
|
NM_001010867.4(IBA57):c.947A>C (p.Asn316Thr)
|
rs200319163
|
0.00006
|
|
NM_001012301.4(ARSI):c.1456C>T (p.Arg486Cys)
|
rs139095592
|
0.00006
|
|
NM_001122955.4(BSCL2):c.1147G>A (p.Gly383Arg)
|
rs772516974
|
0.00006
|
|
NM_001160148.2(DDHD1):c.1212G>T (p.Gln404His)
|
rs370322081
|
0.00006
|
|
NM_001160148.2(DDHD1):c.12G>A (p.Pro4=)
|
rs973574548
|
0.00006
|
|
NM_001160148.2(DDHD1):c.146C>T (p.Pro49Leu)
|
rs747202346
|
0.00006
|
|
NM_001160148.2(DDHD1):c.513C>G (p.Phe171Leu)
|
rs768701113
|
0.00006
|
|
NM_001160148.2(DDHD1):c.687C>T (p.Asp229=)
|
rs769806406
|
0.00006
|
|
NM_001160148.2(DDHD1):c.838+14C>T
|
rs372898360
|
0.00006
|
|
NM_001166114.2(PNPLA6):c.1039G>A (p.Gly347Ser)
|
rs760573469
|
0.00006
|
|
NM_001166114.2(PNPLA6):c.1228G>A (p.Val410Ile)
|
rs369465821
|
0.00006
|
|
NM_001166114.2(PNPLA6):c.1312G>A (p.Val438Met)
|
rs752915572
|
0.00006
|
|
NM_001166114.2(PNPLA6):c.1609-6G>T
|
rs754967176
|
0.00006
|
|
NM_001166114.2(PNPLA6):c.1980G>T (p.Val660=)
|
rs142204241
|
0.00006
|
|
NM_001166114.2(PNPLA6):c.240A>C (p.Pro80=)
|
rs143530297
|
0.00006
|
|
NM_001166114.2(PNPLA6):c.2712C>T (p.Gly904=)
|
rs748031664
|
0.00006
|
|
NM_001166114.2(PNPLA6):c.315+8C>T
|
rs1041357827
|
0.00006
|
|
NM_001166114.2(PNPLA6):c.3549T>C (p.Val1183=)
|
rs35770729
|
0.00006
|
|
NM_001166114.2(PNPLA6):c.3634G>A (p.Glu1212Lys)
|
rs138454923
|
0.00006
|
|
NM_001166114.2(PNPLA6):c.3717C>T (p.Tyr1239=)
|
rs748211267
|
0.00006
|
|
NM_001166114.2(PNPLA6):c.4045C>T (p.Arg1349Trp)
|
rs374434303
|
0.00006
|
|
NM_001199753.2(CPT1C):c.1296G>A (p.Ser432=)
|
rs371844232
|
0.00006
|
|
NM_001199753.2(CPT1C):c.156C>T (p.Thr52=)
|
rs149279870
|
0.00006
|
|
NM_001199753.2(CPT1C):c.863G>A (p.Arg288His)
|
rs143361095
|
0.00006
|
|
NM_001199753.2(CPT1C):c.969C>T (p.Tyr323=)
|
rs145579693
|
0.00006
|
|
NM_001244008.2(KIF1A):c.*15G>A
|
rs762837283
|
0.00006
|
|
NM_001244008.2(KIF1A):c.*2499G>A
|
rs565866804
|
0.00006
|
|
NM_001244008.2(KIF1A):c.*2632G>A
|
rs771705587
|
0.00006
|
|
NM_001244008.2(KIF1A):c.1208-14C>T
|
rs754002758
|
0.00006
|
|
NM_001244008.2(KIF1A):c.1290C>G (p.His430Gln)
|
rs369856336
|
0.00006
|
|
NM_001244008.2(KIF1A):c.1847C>T (p.Thr616Met)
|
rs370071963
|
0.00006
|
|
NM_001244008.2(KIF1A):c.2022+9C>T
|
rs751175706
|
0.00006
|
|
NM_001244008.2(KIF1A):c.2078C>T (p.Pro693Leu)
|
rs756842462
|
0.00006
|
|
NM_001244008.2(KIF1A):c.2088C>T (p.Asn696=)
|
rs758111969
|
0.00006
|
|
NM_001244008.2(KIF1A):c.2269C>G (p.Gln757Glu)
|
rs369410320
|
0.00006
|
|
NM_001244008.2(KIF1A):c.2444+19T>C
|
rs535696519
|
0.00006
|
|
NM_001244008.2(KIF1A):c.2865C>T (p.Phe955=)
|
rs190534883
|
0.00006
|
|
NM_001244008.2(KIF1A):c.3213A>C (p.Pro1071=)
|
rs201232478
|
0.00006
|
|
NM_001244008.2(KIF1A):c.3584+6C>T
|
rs371009856
|
0.00006
|
|
NM_001244008.2(KIF1A):c.363+9C>T
|
rs368803931
|
0.00006
|
|
NM_001244008.2(KIF1A):c.3674C>G (p.Pro1225Arg)
|
rs377389267
|
0.00006
|
|
NM_001244008.2(KIF1A):c.3898G>A (p.Val1300Met)
|
rs797045652
|
0.00006
|
|
NM_001244008.2(KIF1A):c.4601C>T (p.Ser1534Leu)
|
rs371486580
|
0.00006
|
|
NM_001244008.2(KIF1A):c.4638C>T (p.Asn1546=)
|
rs771217469
|
0.00006
|
|
NM_001244008.2(KIF1A):c.4683G>A (p.Thr1561=)
|
rs370908366
|
0.00006
|
|
NM_001244008.2(KIF1A):c.4734C>T (p.Ser1578=)
|
rs766419471
|
0.00006
|
|
NM_001244008.2(KIF1A):c.4909G>A (p.Glu1637Lys)
|
rs377032453
|
0.00006
|
|
NM_001244008.2(KIF1A):c.4955G>A (p.Arg1652Gln)
|
rs376658420
|
0.00006
|
|
NM_001244008.2(KIF1A):c.5092G>A (p.Val1698Met)
|
rs769279843
|
0.00006
|
|
NM_001244008.2(KIF1A):c.5214+14C>T
|
rs777141916
|
0.00006
|
|
NM_001244008.2(KIF1A):c.5241G>A (p.Thr1747=)
|
rs375709030
|
0.00006
|
|
NM_001244008.2(KIF1A):c.5268C>T (p.Ala1756=)
|
rs377628410
|
0.00006
|
|
NM_001244008.2(KIF1A):c.531C>T (p.Tyr177=)
|
rs374244360
|
0.00006
|
|
NM_001244008.2(KIF1A):c.654C>T (p.His218=)
|
rs751380608
|
0.00006
|
|
NM_001244008.2(KIF1A):c.657C>T (p.Ala219=)
|
rs531993959
|
0.00006
|
|
NM_001244008.2(KIF1A):c.882+6C>T
|
rs1290737564
|
0.00006
|
|
NM_001244008.2(KIF1A):c.883-3C>T
|
rs111507743
|
0.00006
|
|
NM_001253852.3(AP4B1):c.1302+11A>G
|
rs772397695
|
0.00006
|
|
NM_001253852.3(AP4B1):c.1591C>T (p.Arg531Trp)
|
rs745939325
|
0.00006
|
|
NM_001253852.3(AP4B1):c.617+17A>G
|
rs201080805
|
0.00006
|
|
NM_001253852.3(AP4B1):c.909C>A (p.Ile303=)
|
rs147184856
|
0.00006
|
|
NM_001271803.2(REEP2):c.165G>C (p.Thr55=)
|
rs149244681
|
0.00006
|
|
NM_001271803.2(REEP2):c.489C>T (p.Asp163=)
|
rs376577382
|
0.00006
|
|
NM_001271803.2(REEP2):c.524G>A (p.Arg175Gln)
|
rs199638172
|
0.00006
|
|
NM_001351169.2(NT5C2):c.1089G>A (p.Arg363=)
|
rs370299413
|
0.00006
|
|
NM_001351169.2(NT5C2):c.390-3C>T
|
rs754629068
|
0.00006
|
|
NM_001368809.2(AMPD2):c.1880C>T (p.Thr627Met)
|
rs749833212
|
0.00006
|
|
NM_001368809.2(AMPD2):c.2158-9C>A
|
rs756915998
|
0.00006
|
|
NM_001368809.2(AMPD2):c.2237A>G (p.Asn746Ser)
|
rs764032802
|
0.00006
|
|
NM_001368809.2(AMPD2):c.2269-9T>G
|
rs778204030
|
0.00006
|
|
NM_001368809.2(AMPD2):c.537G>A (p.Pro179=)
|
rs776483432
|
0.00006
|
|
NM_001368809.2(AMPD2):c.818G>A (p.Arg273Gln)
|
rs143736463
|
0.00006
|
|
NM_001371279.1(REEP1):c.106-7T>A
|
rs373564876
|
0.00006
|
|
NM_001371279.1(REEP1):c.363C>T (p.Phe121=)
|
rs369674332
|
0.00006
|
|
NM_002361.4(MAG):c.1297G>T (p.Val433Leu)
|
rs146536656
|
0.00006
|
|
NM_002361.4(MAG):c.1666G>A (p.Val556Ile)
|
rs201689297
|
0.00006
|
|
NM_002361.4(MAG):c.1719C>T (p.Ser573=)
|
rs201985838
|
0.00006
|
|
NM_002361.4(MAG):c.1782C>A (p.Asp594Glu)
|
rs200067189
|
0.00006
|
|
NM_002693.3(POLG):c.2554C>T (p.Arg852Cys)
|
rs144500145
|
0.00006
|
|
NM_002693.3(POLG):c.868C>T (p.Arg290Cys)
|
rs753416225
|
0.00006
|
|
NM_002860.4(ALDH18A1):c.1467+16G>A
|
rs371225175
|
0.00006
|
|
NM_002860.4(ALDH18A1):c.1568C>T (p.Ala523Val)
|
rs529294368
|
0.00006
|
|
NM_002860.4(ALDH18A1):c.1596C>T (p.Ala532=)
|
rs200730342
|
0.00006
|
|
NM_002860.4(ALDH18A1):c.1631A>G (p.Asp544Gly)
|
rs372744264
|
0.00006
|
|
NM_002860.4(ALDH18A1):c.1867G>A (p.Asp623Asn)
|
rs770815414
|
0.00006
|
|
NM_003119.4(SPG7):c.1236G>A (p.Ala412=)
|
rs201129878
|
0.00006
|
|
NM_003119.4(SPG7):c.1325-6C>T
|
rs371986686
|
0.00006
|
|
NM_003119.4(SPG7):c.1611C>G (p.His537Gln)
|
rs139952725
|
0.00006
|
|
NM_003119.4(SPG7):c.1735G>A (p.Ala579Thr)
|
rs763187694
|
0.00006
|
|
NM_003119.4(SPG7):c.1909G>A (p.Ala637Thr)
|
rs549735647
|
0.00006
|
|
NM_003119.4(SPG7):c.2228T>C (p.Ile743Thr)
|
rs752623413
|
0.00006
|
|
NM_003119.4(SPG7):c.331A>G (p.Lys111Glu)
|
rs1239421989
|
0.00006
|
|
NM_003119.4(SPG7):c.516C>T (p.His172=)
|
rs141065708
|
0.00006
|
|
NM_004722.4(AP4M1):c.1050A>G (p.Pro350=)
|
rs139116680
|
0.00006
|
|
NM_004722.4(AP4M1):c.1137+7G>A
|
rs759354272
|
0.00006
|
|
NM_004722.4(AP4M1):c.1357A>G (p.Ile453Val)
|
rs777592786
|
0.00006
|
|
NM_004722.4(AP4M1):c.847C>T (p.Arg283Trp)
|
rs575096086
|
0.00006
|
|
NM_004722.4(AP4M1):c.84T>C (p.Asp28=)
|
rs777732581
|
0.00006
|
|
NM_004820.5(CYP7B1):c.*575T>G
|
rs758056542
|
0.00006
|
|
NM_004820.5(CYP7B1):c.1250G>A (p.Arg417His)
|
rs121908611
|
0.00006
|
|
NM_004820.5(CYP7B1):c.204G>A (p.Arg68=)
|
rs377119798
|
0.00006
|
|
NM_004984.4(KIF5A):c.1173C>T (p.Ala391=)
|
rs780381269
|
0.00006
|
|
NM_004984.4(KIF5A):c.2953G>A (p.Gly985Ser)
|
rs371548640
|
0.00006
|
|
NM_005154.5(USP8):c.2331T>C (p.Thr777=)
|
rs187703744
|
0.00006
|
|
NM_005154.5(USP8):c.3180C>T (p.Tyr1060=)
|
rs200789993
|
0.00006
|
|
NM_005619.5(RTN2):c.1068G>A (p.Thr356=)
|
rs370997046
|
0.00006
|
|
NM_005619.5(RTN2):c.1618T>C (p.Ser540Pro)
|
rs779865623
|
0.00006
|
|
NM_005619.5(RTN2):c.672G>A (p.Ser224=)
|
rs377094463
|
0.00006
|
|
NM_006070.6(TFG):c.1087T>G (p.Phe363Val)
|
rs758939134
|
0.00006
|
|
NM_006070.6(TFG):c.1145C>T (p.Ala382Val)
|
rs138185005
|
0.00006
|
|
NM_006070.6(TFG):c.1147C>T (p.Arg383Cys)
|
rs146078119
|
0.00006
|
|
NM_006070.6(TFG):c.545T>C (p.Met182Thr)
|
rs199724547
|
0.00006
|
|
NM_006070.6(TFG):c.944C>T (p.Pro315Leu)
|
rs753375115
|
0.00006
|
|
NM_006459.4(ERLIN1):c.588T>C (p.Leu196=)
|
rs142222778
|
0.00006
|
|
NM_006459.4(ERLIN1):c.966A>G (p.Gly322=)
|
rs377025416
|
0.00006
|
|
NM_006567.5(FARS2):c.1009G>A (p.Glu337Lys)
|
rs779793214
|
0.00006
|
|
NM_006612.6(KIF1C):c.1387C>T (p.Arg463Cys)
|
rs759516774
|
0.00006
|
|
NM_006612.6(KIF1C):c.387C>A (p.Arg129=)
|
rs138692366
|
0.00006
|
|
NM_006612.6(KIF1C):c.687C>T (p.Cys229=)
|
rs752006841
|
0.00006
|
|
NM_007215.4(POLG2):c.694G>A (p.Gly232Ser)
|
rs143660836
|
0.00006
|
|
NM_012073.5(CCT5):c.*1257A>G
|
rs572016113
|
0.00006
|
|
NM_012073.5(CCT5):c.1051G>A (p.Glu351Lys)
|
rs140095139
|
0.00006
|
|
NM_012073.5(CCT5):c.1070G>A (p.Gly357Asp)
|
rs143444882
|
0.00006
|
|
NM_014363.6(SACS):c.12854G>A (p.Ser4285Asn)
|
rs371935764
|
0.00006
|
|
NM_014363.6(SACS):c.2551G>T (p.Val851Phe)
|
rs756890722
|
0.00006
|
|
NM_014363.6(SACS):c.2776A>G (p.Ile926Val)
|
rs144362131
|
0.00006
|
|
NM_014363.6(SACS):c.8579A>G (p.Asn2860Ser)
|
rs201294520
|
0.00006
|
|
NM_014363.6(SACS):c.9404T>C (p.Leu3135Ser)
|
rs371019314
|
0.00006
|
|
NM_014363.6(SACS):c.9551G>A (p.Arg3184His)
|
rs200453385
|
0.00006
|
|
NM_014844.5(TECPR2):c.1316C>T (p.Pro439Leu)
|
rs754024398
|
0.00006
|
|
NM_014844.5(TECPR2):c.1471G>A (p.Glu491Lys)
|
rs751957510
|
0.00006
|
|
NM_014844.5(TECPR2):c.1792G>A (p.Gly598Arg)
|
rs772792595
|
0.00006
|
|
NM_014844.5(TECPR2):c.1992G>T (p.Leu664=)
|
rs377365529
|
0.00006
|
|
NM_014844.5(TECPR2):c.2514G>C (p.Pro838=)
|
rs140913653
|
0.00006
|
|
NM_014844.5(TECPR2):c.2655G>T (p.Arg885=)
|
rs200100396
|
0.00006
|
|
NM_014844.5(TECPR2):c.2761G>A (p.Val921Met)
|
rs760730551
|
0.00006
|
|
NM_014844.5(TECPR2):c.2827C>T (p.Arg943Trp)
|
rs376227334
|
0.00006
|
|
NM_014844.5(TECPR2):c.2970C>T (p.Leu990=)
|
rs367970932
|
0.00006
|
|
NM_014844.5(TECPR2):c.3171C>T (p.Pro1057=)
|
rs749964386
|
0.00006
|
|
NM_014844.5(TECPR2):c.3477G>A (p.Arg1159=)
|
rs2295975
|
0.00006
|
|
NM_014844.5(TECPR2):c.3790-9C>T
|
rs771741492
|
0.00006
|
|
NM_014844.5(TECPR2):c.3813C>T (p.Ser1271=)
|
rs780624484
|
0.00006
|
|
NM_014844.5(TECPR2):c.3999C>T (p.Leu1333=)
|
rs556751486
|
0.00006
|
|
NM_014844.5(TECPR2):c.4065C>T (p.Ser1355=)
|
rs142318405
|
0.00006
|
|
NM_014846.4(WASHC5):c.*125A>G
|
rs539338883
|
0.00006
|
|
NM_014846.4(WASHC5):c.1550A>G (p.Asn517Ser)
|
rs368546546
|
0.00006
|
|
NM_014846.4(WASHC5):c.18C>T (p.Ala6=)
|
rs17852424
|
0.00006
|
|
NM_014846.4(WASHC5):c.2151C>T (p.Arg717=)
|
rs766145087
|
0.00006
|
|
NM_014846.4(WASHC5):c.2850+4T>C
|
rs770743674
|
0.00006
|
|
NM_014846.4(WASHC5):c.2972T>C (p.Ile991Thr)
|
rs142883794
|
0.00006
|
|
NM_014855.3(AP5Z1):c.*1386C>T
|
rs541829370
|
0.00006
|
|
NM_014855.3(AP5Z1):c.*2503G>A
|
rs886062365
|
0.00006
|
|
NM_014855.3(AP5Z1):c.*668G>A
|
rs375098115
|
0.00006
|
|
NM_014855.3(AP5Z1):c.-68G>T
|
rs546354621
|
0.00006
|
|
NM_014855.3(AP5Z1):c.1110C>T (p.Leu370=)
|
rs756954352
|
0.00006
|
|
NM_014855.3(AP5Z1):c.1132G>A (p.Gly378Arg)
|
rs777093701
|
0.00006
|
|
NM_014855.3(AP5Z1):c.120C>T (p.Asp40=)
|
rs374592930
|
0.00006
|
|
NM_014855.3(AP5Z1):c.1267G>A (p.Gly423Arg)
|
rs376329631
|
0.00006
|
|
NM_014855.3(AP5Z1):c.1312-10G>A
|
rs770895241
|
0.00006
|
|
NM_014855.3(AP5Z1):c.1334C>T (p.Pro445Leu)
|
rs566333309
|
0.00006
|
|
NM_014855.3(AP5Z1):c.1360C>T (p.Leu454Phe)
|
rs371402624
|
0.00006
|
|
NM_014855.3(AP5Z1):c.1454+13C>T
|
rs763660409
|
0.00006
|
|
NM_014855.3(AP5Z1):c.1485C>G (p.Leu495=)
|
rs377274807
|
0.00006
|
|
NM_014855.3(AP5Z1):c.1527C>T (p.Phe509=)
|
rs745794388
|
0.00006
|
|
NM_014855.3(AP5Z1):c.1717G>A (p.Gly573Arg)
|
rs746432998
|
0.00006
|
|
NM_014855.3(AP5Z1):c.1766C>T (p.Ser589Leu)
|
rs765366145
|
0.00006
|
|
NM_014855.3(AP5Z1):c.1771T>C (p.Tyr591His)
|
rs1490632344
|
0.00006
|
|
NM_014855.3(AP5Z1):c.1775C>T (p.Pro592Leu)
|
rs781462204
|
0.00006
|
|
NM_014855.3(AP5Z1):c.1806-4G>A
|
rs547245020
|
0.00006
|
|
NM_014855.3(AP5Z1):c.1919C>T (p.Ala640Val)
|
rs562874262
|
0.00006
|
|
NM_014855.3(AP5Z1):c.1978C>T (p.Arg660Trp)
|
rs377514314
|
0.00006
|
|
NM_014855.3(AP5Z1):c.2221G>A (p.Glu741Lys)
|
rs199745141
|
0.00006
|
|
NM_014855.3(AP5Z1):c.351C>T (p.Ser117=)
|
rs374912181
|
0.00006
|
|
NM_014855.3(AP5Z1):c.417G>A (p.Ala139=)
|
rs201203264
|
0.00006
|
|
NM_014855.3(AP5Z1):c.536G>A (p.Arg179Gln)
|
rs569233326
|
0.00006
|
|
NM_014855.3(AP5Z1):c.605C>T (p.Thr202Met)
|
rs756182519
|
0.00006
|
|
NM_014855.3(AP5Z1):c.623C>T (p.Pro208Leu)
|
rs779121737
|
0.00006
|
|
NM_014855.3(AP5Z1):c.628C>T (p.Pro210Ser)
|
rs773542837
|
0.00006
|
|
NM_014855.3(AP5Z1):c.791-4G>A
|
rs368052767
|
0.00006
|
|
NM_014855.3(AP5Z1):c.841T>A (p.Ser281Thr)
|
rs765690642
|
0.00006
|
|
NM_014855.3(AP5Z1):c.928C>T (p.Arg310Ter)
|
rs748724870
|
0.00006
|
|
NM_014946.4(SPAST):c.*195T>A
|
rs778599351
|
0.00006
|
|
NM_014946.4(SPAST):c.*2504A>G
|
rs886055980
|
0.00006
|
|
NM_014946.4(SPAST):c.*2987G>C
|
rs770713063
|
0.00006
|
|
NM_014946.4(SPAST):c.-168G>A
|
rs886055959
|
0.00006
|
|
NM_014946.4(SPAST):c.1197G>A (p.Ser399=)
|
rs1037572037
|
0.00006
|
|
NM_014946.4(SPAST):c.250C>T (p.Arg84Cys)
|
rs776114823
|
0.00006
|
|
NM_014946.4(SPAST):c.64C>G (p.Pro22Ala)
|
rs762209469
|
0.00006
|
|
NM_015046.7(SETX):c.1227A>G (p.Leu409=)
|
rs769913556
|
0.00006
|
|
NM_015087.5(SPART):c.*1847G>C
|
rs540414622
|
0.00006
|
|
NM_015087.5(SPART):c.*758A>G
|
rs187517838
|
0.00006
|
|
NM_015087.5(SPART):c.862T>C (p.Cys288Arg)
|
rs771147428
|
0.00006
|
|
NM_015161.3(ARL6IP1):c.199C>T (p.Leu67=)
|
rs763110010
|
0.00006
|
|
NM_015214.3(DDHD2):c.1090C>G (p.Gln364Glu)
|
rs201156715
|
0.00006
|
|
NM_015214.3(DDHD2):c.1587G>A (p.Thr529=)
|
rs141814412
|
0.00006
|
|
NM_015214.3(DDHD2):c.1978G>C (p.Asp660His)
|
rs375168720
|
0.00006
|
|
NM_015346.4(ZFYVE26):c.*1589T>A
|
rs760292740
|
0.00006
|
|
NM_015346.4(ZFYVE26):c.2097C>A (p.Ile699=)
|
rs142972003
|
0.00006
|
|
NM_015346.4(ZFYVE26):c.2585C>G (p.Pro862Arg)
|
rs138050875
|
0.00006
|
|
NM_015346.4(ZFYVE26):c.2859A>T (p.Leu953=)
|
rs189616103
|
0.00006
|
|
NM_015346.4(ZFYVE26):c.3036C>T (p.His1012=)
|
rs551159891
|
0.00006
|
|
NM_015346.4(ZFYVE26):c.3139+1G>A
|
rs137907310
|
0.00006
|
|
NM_015346.4(ZFYVE26):c.3404A>G (p.Gln1135Arg)
|
rs773669036
|
0.00006
|
|
NM_015346.4(ZFYVE26):c.3973C>T (p.Pro1325Ser)
|
rs150637611
|
0.00006
|
|
NM_015346.4(ZFYVE26):c.5320G>A (p.Gly1774Ser)
|
rs372819280
|
0.00006
|
|
NM_015346.4(ZFYVE26):c.5768G>A (p.Arg1923Gln)
|
rs199497582
|
0.00006
|
|
NM_015346.4(ZFYVE26):c.7050T>C (p.Ala2350=)
|
rs139364887
|
0.00006
|
|
NM_015346.4(ZFYVE26):c.7588C>T (p.Arg2530Trp)
|
rs574871334
|
0.00006
|
|
NM_015915.5(ATL1):c.*304C>T
|
rs886050533
|
0.00006
|
|
NM_015915.5(ATL1):c.*335C>T
|
rs568330782
|
0.00006
|
|
NM_015915.5(ATL1):c.1078G>A (p.Val360Met)
|
rs373267047
|
0.00006
|
|
NM_015915.5(ATL1):c.1556G>A (p.Ser519Asn)
|
rs751861796
|
0.00006
|
|
NM_015915.5(ATL1):c.1635A>G (p.Pro545=)
|
rs191729308
|
0.00006
|
|
NM_015915.5(ATL1):c.45G>A (p.Ser15=)
|
rs775540772
|
0.00006
|
|
NM_015915.5(ATL1):c.990+4T>A
|
rs372029461
|
0.00006
|
|
NM_016630.7(SPG21):c.*11G>A
|
rs201889757
|
0.00006
|
|
NM_016630.7(SPG21):c.*33G>A
|
rs142839353
|
0.00006
|
|
NM_016630.7(SPG21):c.64A>G (p.Ile22Val)
|
rs146092558
|
0.00006
|
|
NM_020919.4(ALS2):c.2712G>A (p.Thr904=)
|
rs201200488
|
0.00006
|
|
NM_020919.4(ALS2):c.4194C>T (p.Tyr1398=)
|
rs764925739
|
0.00006
|
|
NM_020919.4(ALS2):c.725T>C (p.Met242Thr)
|
rs200733209
|
0.00006
|
|
NM_020944.3(GBA2):c.266G>C (p.Cys89Ser)
|
rs143885818
|
0.00006
|
|
NM_022089.4(ATP13A2):c.1064C>T (p.Thr355Met)
|
rs555691965
|
0.00006
|
|
NM_022089.4(ATP13A2):c.1243C>T (p.Arg415Trp)
|
rs768796427
|
0.00006
|
|
NM_022089.4(ATP13A2):c.1925C>T (p.Ala642Val)
|
rs147260398
|
0.00006
|
|
NM_022089.4(ATP13A2):c.212G>T (p.Trp71Leu)
|
rs373607247
|
0.00006
|
|
NM_022089.4(ATP13A2):c.2252-8A>T
|
rs759020707
|
0.00006
|
|
NM_022089.4(ATP13A2):c.2406C>T (p.Gly802=)
|
rs886045580
|
0.00006
|
|
NM_022089.4(ATP13A2):c.2529+9G>A
|
rs200809857
|
0.00006
|
|
NM_022089.4(ATP13A2):c.2663C>T (p.Ala888Val)
|
rs190323680
|
0.00006
|
|
NM_022089.4(ATP13A2):c.2994C>T (p.Ser998=)
|
rs369590596
|
0.00006
|
|
NM_022089.4(ATP13A2):c.3257C>T (p.Ala1086Val)
|
rs370677966
|
0.00006
|
|
NM_022089.4(ATP13A2):c.461C>T (p.Ala154Val)
|
rs376169767
|
0.00006
|
|
NM_022089.4(ATP13A2):c.699G>T (p.Val233=)
|
rs374074690
|
0.00006
|
|
NM_022089.4(ATP13A2):c.745G>A (p.Ala249Thr)
|
rs199661793
|
0.00006
|
|
NM_022089.4(ATP13A2):c.778G>A (p.Ala260Thr)
|
rs761338717
|
0.00006
|
|
NM_022089.4(ATP13A2):c.823C>T (p.Leu275=)
|
rs767056514
|
0.00006
|
|
NM_025137.4(SPG11):c.1008-4C>T
|
rs369112409
|
0.00006
|
|
NM_025137.4(SPG11):c.1187A>G (p.Tyr396Cys)
|
rs3759875
|
0.00006
|
|
NM_025137.4(SPG11):c.2082C>T (p.Ser694=)
|
rs375179506
|
0.00006
|
|
NM_025137.4(SPG11):c.2212A>G (p.Ile738Val)
|
rs746226262
|
0.00006
|
|
NM_025137.4(SPG11):c.2484T>C (p.Ser828=)
|
rs199707089
|
0.00006
|
|
NM_025137.4(SPG11):c.2669G>A (p.Arg890His)
|
rs376143651
|
0.00006
|
|
NM_025137.4(SPG11):c.2948A>T (p.Lys983Ile)
|
rs765222405
|
0.00006
|
|
NM_025137.4(SPG11):c.3145+12C>T
|
rs375672539
|
0.00006
|
|
NM_025137.4(SPG11):c.316G>A (p.Ala106Thr)
|
rs201842512
|
0.00006
|
|
NM_025137.4(SPG11):c.3362C>G (p.Thr1121Ser)
|
rs552471760
|
0.00006
|
|
NM_025137.4(SPG11):c.3695A>G (p.Gln1232Arg)
|
rs529595414
|
0.00006
|
|
NM_025137.4(SPG11):c.4129C>T (p.His1377Tyr)
|
rs773499406
|
0.00006
|
|
NM_025137.4(SPG11):c.4692T>C (p.Asn1564=)
|
rs149056712
|
0.00006
|
|
NM_025137.4(SPG11):c.5270A>G (p.His1757Arg)
|
rs139423939
|
0.00006
|
|
NM_025137.4(SPG11):c.5753C>A (p.Ala1918Asp)
|
rs368992436
|
0.00006
|
|
NM_025137.4(SPG11):c.5866+10G>A
|
rs375944318
|
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_025137.4(SPG11):c.6387G>A (p.Thr2129=)
|
rs150121550
|
0.00006
|
|
NM_025137.4(SPG11):c.6424G>A (p.Ala2142Thr)
|
rs141035224
|
0.00006
|
|
NM_025137.4(SPG11):c.6477+19C>G
|
rs376753565
|
0.00006
|
|
NM_025137.4(SPG11):c.6478-4del
|
rs779032507
|
0.00006
|
|
NM_025137.4(SPG11):c.6598A>T (p.Lys2200Ter)
|
rs141263564
|
0.00006
|
|
NM_025137.4(SPG11):c.6729G>A (p.Leu2243=)
|
rs1050508990
|
0.00006
|
|
NM_025137.4(SPG11):c.6944A>C (p.Asn2315Thr)
|
rs200276333
|
0.00006
|
|
NM_025137.4(SPG11):c.7146C>T (p.Ser2382=)
|
rs747227352
|
0.00006
|
|
NM_025137.4(SPG11):c.7249G>A (p.Glu2417Lys)
|
rs371313584
|
0.00006
|
|
NM_025137.4(SPG11):c.779C>T (p.Thr260Ile)
|
rs750687972
|
0.00006
|
|
NM_025137.4(SPG11):c.789A>G (p.Lys263=)
|
rs764439012
|
0.00006
|
|
NM_031448.6(C19orf12):c.171C>T (p.Val57=)
|
rs372589316
|
0.00006
|
|
NM_031448.6(C19orf12):c.216G>A (p.Pro72=)
|
rs202054484
|
0.00006
|
|
NM_144599.5(NIPA1):c.*1146T>C
|
rs181621508
|
0.00006
|
|
NM_144599.5(NIPA1):c.*1330G>A
|
rs190362420
|
0.00006
|
|
NM_144599.5(NIPA1):c.*1750C>G
|
rs562165057
|
0.00006
|
|
NM_144599.5(NIPA1):c.*2112A>G
|
rs566155443
|
0.00006
|
|
NM_144599.5(NIPA1):c.*2949C>G
|
rs569446066
|
0.00006
|
|
NM_144599.5(NIPA1):c.*4003G>A
|
rs1452895080
|
0.00006
|
|
NM_144599.5(NIPA1):c.291C>G (p.Pro97=)
|
rs199818530
|
0.00006
|
|
NM_144599.5(NIPA1):c.479-20G>C
|
rs372189145
|
0.00006
|
|
NM_144599.5(NIPA1):c.537C>T (p.Ile179=)
|
rs547634456
|
0.00006
|
|
NM_144599.5(NIPA1):c.711C>T (p.Leu237=)
|
rs773200808
|
0.00006
|
|
NM_144599.5(NIPA1):c.774G>A (p.Ser258=)
|
rs371993191
|
0.00006
|
|
NM_152269.5(MTRFR):c.96_99dup (p.Pro34fs)
|
rs863223926
|
0.00006
|
|
NM_152415.3(VPS37A):c.512C>G (p.Thr171Ser)
|
rs200401367
|
0.00006
|
|
NM_183075.3(CYP2U1):c.979G>C (p.Glu327Gln)
|
rs767970725
|
0.00006
|
|
NM_001010867.4(IBA57):c.894G>A (p.Thr298=)
|
rs142711871
|
0.00005
|
|
NM_001122955.4(BSCL2):c.1201G>A (p.Gly401Arg)
|
rs138964424
|
0.00005
|
|
NM_001160148.2(DDHD1):c.127C>T (p.His43Tyr)
|
rs751145177
|
0.00005
|
|
NM_001160148.2(DDHD1):c.1842+3A>G
|
rs753506242
|
0.00005
|
|
NM_001160148.2(DDHD1):c.280G>C (p.Ala94Pro)
|
rs758060048
|
0.00005
|
|
NM_001160148.2(DDHD1):c.312C>T (p.Ser104=)
|
rs767690171
|
0.00005
|
|
NM_001166114.2(PNPLA6):c.1252+20C>T
|
rs773824172
|
0.00005
|
|
NM_001166114.2(PNPLA6):c.1271G>A (p.Arg424His)
|
rs369286019
|
0.00005
|
|
NM_001166114.2(PNPLA6):c.1492G>A (p.Ala498Thr)
|
rs375397452
|
0.00005
|
|
NM_001166114.2(PNPLA6):c.1611C>T (p.Asp537=)
|
rs541798943
|
0.00005
|
|
NM_001166114.2(PNPLA6):c.2454C>T (p.Ser818=)
|
rs764034069
|
0.00005
|
|
NM_001166114.2(PNPLA6):c.2634+20del
|
rs544064102
|
0.00005
|
|
NM_001166114.2(PNPLA6):c.2907T>C (p.Ile969=)
|
rs774909110
|
0.00005
|
|
NM_001166114.2(PNPLA6):c.3109C>G (p.Leu1037Val)
|
rs765313440
|
0.00005
|
|
NM_001166114.2(PNPLA6):c.3281-6G>A
|
rs766015469
|
0.00005
|
|
NM_001166114.2(PNPLA6):c.3375C>T (p.Gly1125=)
|
rs375987938
|
0.00005
|
|
NM_001166114.2(PNPLA6):c.3606A>G (p.Leu1202=)
|
rs200234059
|
0.00005
|
|
NM_001166114.2(PNPLA6):c.4003C>T (p.Pro1335Ser)
|
rs151264767
|
0.00005
|
|
NM_001166114.2(PNPLA6):c.4018G>A (p.Glu1340Lys)
|
rs376402887
|
0.00005
|
|
NM_001166114.2(PNPLA6):c.907T>C (p.Leu303=)
|
rs779108773
|
0.00005
|
|
NM_001166114.2(PNPLA6):c.976C>T (p.Leu326=)
|
rs559393431
|
0.00005
|
|
NM_001199753.2(CPT1C):c.2165T>A (p.Ile722Asn)
|
rs553087160
|
0.00005
|
|
NM_001199753.2(CPT1C):c.253G>A (p.Glu85Lys)
|
rs202006349
|
0.00005
|
|
NM_001244008.2(KIF1A):c.1266C>T (p.Arg422=)
|
rs190195227
|
0.00005
|
|
NM_001244008.2(KIF1A):c.1276G>A (p.Val426Met)
|
rs531522772
|
0.00005
|
|
NM_001244008.2(KIF1A):c.1479C>T (p.Gly493=)
|
rs753658374
|
0.00005
|
|
NM_001244008.2(KIF1A):c.1680C>T (p.Ser560=)
|
rs371260268
|
0.00005
|
|
NM_001244008.2(KIF1A):c.1739A>G (p.Lys580Arg)
|
rs374248209
|
0.00005
|
|
NM_001244008.2(KIF1A):c.1844G>A (p.Arg615His)
|
rs764578297
|
0.00005
|
|
NM_001244008.2(KIF1A):c.1848G>A (p.Thr616=)
|
rs112191491
|
0.00005
|
|
NM_001244008.2(KIF1A):c.1949+7C>T
|
rs555750413
|
0.00005
|
|
NM_001244008.2(KIF1A):c.2264A>G (p.Lys755Arg)
|
rs371402945
|
0.00005
|
|
NM_001244008.2(KIF1A):c.2494C>T (p.Pro832Ser)
|
rs757726053
|
0.00005
|
|
NM_001244008.2(KIF1A):c.3010G>A (p.Val1004Ile)
|
rs763669401
|
0.00005
|
|
NM_001244008.2(KIF1A):c.3203-17T>C
|
rs375105783
|
0.00005
|
|
NM_001244008.2(KIF1A):c.3286C>T (p.Arg1096Cys)
|
rs745556410
|
0.00005
|
|
NM_001244008.2(KIF1A):c.3405C>T (p.Ser1135=)
|
rs374858877
|
0.00005
|
|
NM_001244008.2(KIF1A):c.3778G>A (p.Gly1260Arg)
|
rs373019389
|
0.00005
|
|
NM_001244008.2(KIF1A):c.3928G>A (p.Asp1310Asn)
|
rs371252476
|
0.00005
|
|
NM_001244008.2(KIF1A):c.3978C>T (p.Ser1326=)
|
rs775591104
|
0.00005
|
|
NM_001244008.2(KIF1A):c.4307C>T (p.Ala1436Val)
|
rs375688061
|
0.00005
|
|
NM_001244008.2(KIF1A):c.4319-13G>A
|
rs372386644
|
0.00005
|
|
NM_001244008.2(KIF1A):c.4465-10C>T
|
rs750461872
|
0.00005
|
|
NM_001244008.2(KIF1A):c.4595C>T (p.Pro1532Leu)
|
rs779578515
|
0.00005
|
|
NM_001244008.2(KIF1A):c.4666-5C>T
|
rs532806732
|
0.00005
|
|
NM_001244008.2(KIF1A):c.5029G>A (p.Val1677Ile)
|
rs757070178
|
0.00005
|
|
NM_001244008.2(KIF1A):c.5063C>T (p.Pro1688Leu)
|
rs549560429
|
0.00005
|
|
NM_001244008.2(KIF1A):c.5131G>A (p.Asp1711Asn)
|
rs199574770
|
0.00005
|
|
NM_001244008.2(KIF1A):c.5150G>A (p.Arg1717Gln)
|
rs760970824
|
0.00005
|
|
NM_001244008.2(KIF1A):c.609-8C>T
|
rs775915390
|
0.00005
|
|
NM_001244008.2(KIF1A):c.7G>A (p.Gly3Arg)
|
rs751960710
|
0.00005
|
|
NM_001244008.2(KIF1A):c.959-3C>T
|
rs572537873
|
0.00005
|
|
NM_001253852.3(AP4B1):c.13G>A (p.Gly5Ser)
|
rs370101262
|
0.00005
|
|
NM_001253852.3(AP4B1):c.232C>T (p.Leu78=)
|
rs760117027
|
0.00005
|
|
NM_001253852.3(AP4B1):c.358T>A (p.Tyr120Asn)
|
rs138880168
|
0.00005
|
|
NM_001271803.2(REEP2):c.411C>T (p.Ala137=)
|
rs767756939
|
0.00005
|
|
NM_001368809.2(AMPD2):c.1180G>A (p.Val394Met)
|
rs374249741
|
0.00005
|
|
NM_001368809.2(AMPD2):c.1193G>A (p.Arg398His)
|
rs138073893
|
0.00005
|
|
NM_001368809.2(AMPD2):c.23C>G (p.Ser8Cys)
|
rs147463318
|
0.00005
|
|
NM_001368809.2(AMPD2):c.72G>A (p.Gln24=)
|
rs143354905
|
0.00005
|
|
NM_001371279.1(REEP1):c.*218C>T
|
rs1033340030
|
0.00005
|
|
NM_001371279.1(REEP1):c.33-17G>T
|
rs571249509
|
0.00005
|
|
NM_001371279.1(REEP1):c.537C>T (p.Ser179=)
|
rs201564869
|
0.00005
|
|
NM_001371279.1(REEP1):c.547G>A (p.Gly183Ser)
|
rs768890728
|
0.00005
|
|
NM_001371279.1(REEP1):c.582C>T (p.Ser194=)
|
rs540194528
|
0.00005
|
|
NM_001776.6(ENTPD1):c.454G>T (p.Val152Leu)
|
rs760388886
|
0.00005
|
|
NM_002156.5(HSPD1):c.1446T>C (p.Asn482=)
|
rs2303884
|
0.00005
|
|
NM_002156.5(HSPD1):c.662G>A (p.Arg221Gln)
|
rs140261894
|
0.00005
|
|
NM_002361.4(MAG):c.1698G>A (p.Gly566=)
|
rs142544260
|
0.00005
|
|
NM_002693.3(POLG):c.125G>A (p.Arg42Gln)
|
rs74382477
|
0.00005
|
|
NM_002861.5(PCYT2):c.1075C>T (p.Arg359Ter)
|
rs377278120
|
0.00005
|
|
NM_003119.4(SPG7):c.1728G>A (p.Ser576=)
|
rs369686424
|
0.00005
|
|
NM_003119.4(SPG7):c.547G>A (p.Val183Ile)
|
rs373636036
|
0.00005
|
|
NM_003119.4(SPG7):c.618+16G>A
|
rs370158052
|
0.00005
|
|
NM_004181.5(UCHL1):c.533G>A (p.Arg178Gln)
|
rs768996179
|
0.00005
|
|
NM_004722.4(AP4M1):c.1140G>A (p.Met380Ile)
|
rs574878636
|
0.00005
|
|
NM_004722.4(AP4M1):c.93G>A (p.Glu31=)
|
rs202143875
|
0.00005
|
|
NM_004984.4(KIF5A):c.*449C>T
|
rs1293182616
|
0.00005
|
|
NM_004984.4(KIF5A):c.2147G>A (p.Arg716Gln)
|
rs554894381
|
0.00005
|
|
NM_004984.4(KIF5A):c.396+13C>T
|
rs377008480
|
0.00005
|
|
NM_005154.5(USP8):c.36C>T (p.Tyr12=)
|
rs141886945
|
0.00005
|
|
NM_005154.5(USP8):c.886G>A (p.Val296Ile)
|
rs138148339
|
0.00005
|
|
NM_005619.5(RTN2):c.*344C>T
|
rs375889892
|
0.00005
|
|
NM_005619.5(RTN2):c.939del (p.Thr314fs)
|
rs768449676
|
0.00005
|
|
NM_006070.6(TFG):c.1079G>A (p.Arg360Lys)
|
rs753259754
|
0.00005
|
|
NM_006070.6(TFG):c.557G>A (p.Gly186Asp)
|
rs369981362
|
0.00005
|
|
NM_006070.6(TFG):c.716T>C (p.Ile239Thr)
|
rs146004809
|
0.00005
|
|
NM_006612.6(KIF1C):c.1415+15_1415+18del
|
rs777934473
|
0.00005
|
|
NM_006612.6(KIF1C):c.2253G>A (p.Ala751=)
|
rs369231480
|
0.00005
|
|
NM_006612.6(KIF1C):c.2675C>T (p.Pro892Leu)
|
rs768593463
|
0.00005
|
|
NM_006612.6(KIF1C):c.682C>T (p.Arg228Cys)
|
rs141189136
|
0.00005
|
|
NM_006612.6(KIF1C):c.714G>A (p.Ser238=)
|
rs368886383
|
0.00005
|
|
NM_007347.5(AP4E1):c.1686A>C (p.Thr562=)
|
rs375848961
|
0.00005
|
|
NM_007347.5(AP4E1):c.2149C>T (p.Pro717Ser)
|
rs150743968
|
0.00005
|
|
NM_012073.5(CCT5):c.531-13G>T
|
rs370943521
|
0.00005
|
|
NM_012073.5(CCT5):c.748A>G (p.Ile250Val)
|
rs200819422
|
0.00005
|
|
NM_014363.6(SACS):c.10980C>T (p.Pro3660=)
|
rs141353693
|
0.00005
|
|
NM_014363.6(SACS):c.11363G>A (p.Arg3788His)
|
rs147369196
|
0.00005
|
|
NM_014844.5(TECPR2):c.1180A>C (p.Arg394=)
|
rs549744502
|
0.00005
|
|
NM_014844.5(TECPR2):c.1652A>G (p.Glu551Gly)
|
rs778600439
|
0.00005
|
|
NM_014844.5(TECPR2):c.2394+3A>G
|
rs776681603
|
0.00005
|
|
NM_014844.5(TECPR2):c.2955C>T (p.Pro985=)
|
rs777594505
|
0.00005
|
|
NM_014844.5(TECPR2):c.3912C>T (p.Thr1304=)
|
rs748689796
|
0.00005
|
|
NM_014844.5(TECPR2):c.4006C>T (p.Arg1336Trp)
|
rs778817517
|
0.00005
|
|
NM_014844.5(TECPR2):c.585C>A (p.Leu195=)
|
rs151296038
|
0.00005
|
|
NM_014844.5(TECPR2):c.705G>A (p.Ala235=)
|
rs368826416
|
0.00005
|
|
NM_014844.5(TECPR2):c.72G>A (p.Pro24=)
|
rs201004031
|
0.00005
|
|
NM_014846.4(WASHC5):c.*337A>G
|
rs567758658
|
0.00005
|
|
NM_014846.4(WASHC5):c.1866T>C (p.Tyr622=)
|
rs202216835
|
0.00005
|
|
NM_014846.4(WASHC5):c.2013C>T (p.Tyr671=)
|
rs769262318
|
0.00005
|
|
NM_014846.4(WASHC5):c.2575C>T (p.Arg859Cys)
|
rs202015963
|
0.00005
|
|
NM_014846.4(WASHC5):c.2888A>G (p.Asn963Ser)
|
rs748167994
|
0.00005
|
|
NM_014855.3(AP5Z1):c.*2153G>A
|
rs111994210
|
0.00005
|
|
NM_014855.3(AP5Z1):c.*7A>G
|
rs774520916
|
0.00005
|
|
NM_014855.3(AP5Z1):c.1356G>A (p.Ala452=)
|
rs558636596
|
0.00005
|
|
NM_014855.3(AP5Z1):c.1422C>G (p.Pro474=)
|
rs763844598
|
0.00005
|
|
NM_014855.3(AP5Z1):c.1707+8C>T
|
rs374691049
|
0.00005
|
|
NM_014855.3(AP5Z1):c.195C>T (p.Cys65=)
|
rs376335137
|
0.00005
|
|
NM_014855.3(AP5Z1):c.1974C>T (p.Tyr658=)
|
rs375030531
|
0.00005
|
|
NM_014855.3(AP5Z1):c.318G>A (p.Thr106=)
|
rs769266009
|
0.00005
|
|
NM_014855.3(AP5Z1):c.366+9G>A
|
rs374673755
|
0.00005
|
|
NM_014855.3(AP5Z1):c.535C>T (p.Arg179Trp)
|
rs1040399898
|
0.00005
|
|
NM_014946.4(SPAST):c.30G>A (p.Lys10=)
|
rs768928614
|
0.00005
|
|
NM_014946.4(SPAST):c.415+17G>T
|
rs748969302
|
0.00005
|
|
NM_014946.4(SPAST):c.832G>A (p.Val278Met)
|
rs369908571
|
0.00005
|
|
NM_014946.4(SPAST):c.942G>A (p.Leu314=)
|
rs776121105
|
0.00005
|
|
NM_014946.4(SPAST):c.965G>A (p.Ser322Asn)
|
rs200329686
|
0.00005
|
|
NM_015087.5(SPART):c.*1550A>G
|
rs886050133
|
0.00005
|
|
NM_015087.5(SPART):c.123A>C (p.Glu41Asp)
|
rs749355386
|
0.00005
|
|
NM_015087.5(SPART):c.466C>T (p.Pro156Ser)
|
rs202174672
|
0.00005
|
|
NM_015087.5(SPART):c.552T>C (p.Thr184=)
|
rs770465973
|
0.00005
|
|
NM_015161.3(ARL6IP1):c.177C>T (p.Ile59=)
|
rs367581150
|
0.00005
|
|
NM_015214.3(DDHD2):c.1477C>T (p.Pro493Ser)
|
rs547550120
|
0.00005
|
|
NM_015346.4(ZFYVE26):c.1214C>G (p.Ala405Gly)
|
rs767366135
|
0.00005
|
|
NM_015346.4(ZFYVE26):c.2010C>G (p.His670Gln)
|
rs749925808
|
0.00005
|
|
NM_015346.4(ZFYVE26):c.2426G>A (p.Gly809Asp)
|
rs149519213
|
0.00005
|
|
NM_015346.4(ZFYVE26):c.2716C>T (p.Arg906Cys)
|
rs267604033
|
0.00005
|
|
NM_015346.4(ZFYVE26):c.2756-7C>T
|
rs200721800
|
0.00005
|
|
NM_015346.4(ZFYVE26):c.4402G>A (p.Val1468Met)
|
rs148925506
|
0.00005
|
|
NM_015915.5(ATL1):c.1120-15C>T
|
rs771568686
|
0.00005
|
|
NM_016630.7(SPG21):c.104A>G (p.Tyr35Cys)
|
rs200124791
|
0.00005
|
|
NM_016630.7(SPG21):c.687G>A (p.Ala229=)
|
rs762934056
|
0.00005
|
|
NM_016630.7(SPG21):c.862A>G (p.Met288Val)
|
rs371753104
|
0.00005
|
|
NM_020435.4(GJC2):c.1019C>T (p.Ala340Val)
|
rs752282539
|
0.00005
|
|
NM_020919.4(ALS2):c.4495C>T (p.Arg1499Cys)
|
rs112869526
|
0.00005
|
|
NM_022089.4(ATP13A2):c.106-4G>A
|
rs372541124
|
0.00005
|
|
NM_022089.4(ATP13A2):c.1202G>A (p.Cys401Tyr)
|
rs377186549
|
0.00005
|
|
NM_022089.4(ATP13A2):c.157G>A (p.Val53Met)
|
rs142699829
|
0.00005
|
|
NM_022089.4(ATP13A2):c.2260C>G (p.Leu754Val)
|
rs139909551
|
0.00005
|
|
NM_022089.4(ATP13A2):c.3084-16A>T
|
rs56299881
|
0.00005
|
|
NM_022089.4(ATP13A2):c.3378C>T (p.Leu1126=)
|
rs773914880
|
0.00005
|
|
NM_022089.4(ATP13A2):c.601C>T (p.Arg201Cys)
|
rs760715676
|
0.00005
|
|
NM_022089.4(ATP13A2):c.658G>A (p.Val220Met)
|
rs367693423
|
0.00005
|
|
NM_022089.4(ATP13A2):c.822G>A (p.Ser274=)
|
rs138649639
|
0.00005
|
|
NM_022089.4(ATP13A2):c.943G>A (p.Gly315Arg)
|
rs150519745
|
0.00005
|
|
NM_022089.4(ATP13A2):c.994G>A (p.Ala332Thr)
|
rs141816878
|
0.00005
|
|
NM_024306.5(FA2H):c.1119A>T (p.Ter373Cys)
|
rs758814013
|
0.00005
|
|
NM_025137.4(SPG11):c.1085G>A (p.Trp362Ter)
|
rs140385286
|
0.00005
|
|
NM_025137.4(SPG11):c.1354C>T (p.Leu452Phe)
|
rs141396952
|
0.00005
|
|
NM_025137.4(SPG11):c.1933A>G (p.Ser645Gly)
|
rs768519061
|
0.00005
|
|
NM_025137.4(SPG11):c.2087T>G (p.Ile696Ser)
|
rs150746549
|
0.00005
|
|
NM_025137.4(SPG11):c.2431C>T (p.Gln811Ter)
|
rs756134516
|
0.00005
|
|
NM_025137.4(SPG11):c.3425C>G (p.Ser1142Cys)
|
rs201082396
|
0.00005
|
|
NM_025137.4(SPG11):c.3453+4C>T
|
rs750025536
|
0.00005
|
|
NM_025137.4(SPG11):c.3977G>A (p.Ser1326Asn)
|
rs573591432
|
0.00005
|
|
NM_025137.4(SPG11):c.4907-9T>C
|
rs370372318
|
0.00005
|
|
NM_025137.4(SPG11):c.5361C>T (p.Asp1787=)
|
rs141421410
|
0.00005
|
|
NM_025137.4(SPG11):c.5471G>A (p.Arg1824Gln)
|
rs752401008
|
0.00005
|
|
NM_025137.4(SPG11):c.5650C>T (p.Arg1884Cys)
|
rs752889027
|
0.00005
|
|
NM_025137.4(SPG11):c.5793C>G (p.Ile1931Met)
|
rs781271890
|
0.00005
|
|
NM_025137.4(SPG11):c.733_734del (p.Met245fs)
|
rs312262720
|
0.00005
|
|
NM_025137.4(SPG11):c.935G>A (p.Gly312Asp)
|
rs774273136
|
0.00005
|
|
NM_031448.6(C19orf12):c.68C>T (p.Ala23Val)
|
rs544395324
|
0.00005
|
|
NM_133443.4(GPT2):c.371G>C (p.Ser124Thr)
|
rs776650490
|
0.00005
|
|
NM_144599.5(NIPA1):c.8C>T (p.Thr3Ile)
|
rs1361753522
|
0.00005
|
|
NM_152415.3(VPS37A):c.1192T>C (p.Ter398Gln)
|
rs561258962
|
0.00005
|
|
NM_152415.3(VPS37A):c.215A>T (p.Gln72Leu)
|
rs758481758
|
0.00005
|
|
NM_152415.3(VPS37A):c.576C>T (p.Ala192=)
|
rs371205699
|
0.00005
|
|
NM_183075.3(CYP2U1):c.1376C>T (p.Pro459Leu)
|
rs747965749
|
0.00005
|
|
NM_000533.5(PLP1):c.246T>C (p.Tyr82=)
|
rs982694851
|
0.00004
|
|
NM_000533.5(PLP1):c.799G>A (p.Val267Ile)
|
rs137966879
|
0.00004
|
|
NM_001002755.4(NFU1):c.629G>T (p.Cys210Phe)
|
rs201634470
|
0.00004
|
|
NM_001010867.4(IBA57):c.114T>C (p.Pro38=)
|
rs1051788506
|
0.00004
|
|
NM_001010867.4(IBA57):c.307C>T (p.Gln103Ter)
|
rs778374267
|
0.00004
|
|
NM_001010867.4(IBA57):c.341+4A>G
|
rs536036624
|
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.846G>A (p.Ala282=)
|
rs375554369
|
0.00004
|
|
NM_001122955.4(BSCL2):c.934G>A (p.Val312Ile)
|
rs754683462
|
0.00004
|
|
NM_001128126.3(AP4S1):c.43C>T (p.Arg15Ter)
|
rs754944359
|
0.00004
|
|
NM_001160148.2(DDHD1):c.1012+613A>G
|
rs771542419
|
0.00004
|
|
NM_001160148.2(DDHD1):c.182G>C (p.Gly61Ala)
|
rs548480563
|
0.00004
|
|
NM_001160148.2(DDHD1):c.2195G>A (p.Arg732His)
|
rs143188831
|
0.00004
|
|
NM_001160148.2(DDHD1):c.2276G>A (p.Gly759Glu)
|
rs763441792
|
0.00004
|
|
NM_001160148.2(DDHD1):c.266A>G (p.Tyr89Cys)
|
rs771632283
|
0.00004
|
|
NM_001160148.2(DDHD1):c.26C>T (p.Pro9Leu)
|
rs1257301534
|
0.00004
|
|
NM_001160148.2(DDHD1):c.322_327dup (p.Ser108_Gly109dup)
|
rs747912386
|
0.00004
|
|
NM_001166114.2(PNPLA6):c.*183A>G
|
rs948612575
|
0.00004
|
|
NM_001166114.2(PNPLA6):c.1223G>T (p.Arg408Leu)
|
rs150500586
|
0.00004
|
|
NM_001166114.2(PNPLA6):c.1253-14C>G
|
rs753882799
|
0.00004
|
|
NM_001166114.2(PNPLA6):c.1379C>T (p.Pro460Leu)
|
rs375366178
|
0.00004
|
|
NM_001166114.2(PNPLA6):c.1430C>T (p.Ser477Leu)
|
rs140929996
|
0.00004
|
|
NM_001166114.2(PNPLA6):c.1509G>A (p.Leu503=)
|
rs747793507
|
0.00004
|
|
NM_001166114.2(PNPLA6):c.1609-10G>T
|
rs556461183
|
0.00004
|
|
NM_001166114.2(PNPLA6):c.1626C>T (p.Phe542=)
|
rs778970098
|
0.00004
|
|
NM_001166114.2(PNPLA6):c.2634+4G>C
|
rs751744206
|
0.00004
|
|
NM_001166114.2(PNPLA6):c.2754C>T (p.Cys918=)
|
rs369993445
|
0.00004
|
|
NM_001166114.2(PNPLA6):c.2988C>T (p.Pro996=)
|
rs779282544
|
0.00004
|
|
NM_001166114.2(PNPLA6):c.29C>G (p.Thr10Arg)
|
rs777466386
|
0.00004
|
|
NM_001166114.2(PNPLA6):c.3094-20G>A
|
rs780285884
|
0.00004
|
|
NM_001166114.2(PNPLA6):c.3122T>C (p.Leu1041Ser)
|
rs1291359628
|
0.00004
|
|
NM_001166114.2(PNPLA6):c.3132G>A (p.Thr1044=)
|
rs557463575
|
0.00004
|
|
NM_001166114.2(PNPLA6):c.3246T>C (p.Asp1082=)
|
rs142676943
|
0.00004
|
|
NM_001166114.2(PNPLA6):c.3280+12C>T
|
rs201782128
|
0.00004
|
|
NM_001166114.2(PNPLA6):c.3300del (p.Arg1101fs)
|
rs756591718
|
0.00004
|
|
NM_001166114.2(PNPLA6):c.3399G>A (p.Ala1133=)
|
rs760279180
|
0.00004
|
|
NM_001166114.2(PNPLA6):c.358G>A (p.Ala120Thr)
|
rs147490830
|
0.00004
|
|
NM_001166114.2(PNPLA6):c.3647C>T (p.Pro1216Leu)
|
rs762047744
|
0.00004
|
|
NM_001166114.2(PNPLA6):c.3753C>T (p.Asn1251=)
|
rs372465203
|
0.00004
|
|
NM_001166114.2(PNPLA6):c.3809G>A (p.Arg1270His)
|
rs150754330
|
0.00004
|
|
NM_001166114.2(PNPLA6):c.3955G>A (p.Gly1319Arg)
|
rs140568070
|
0.00004
|
|
NM_001166114.2(PNPLA6):c.4074G>A (p.Pro1358=)
|
rs372042160
|
0.00004
|
|
NM_001166114.2(PNPLA6):c.617G>A (p.Arg206Gln)
|
rs535890270
|
0.00004
|
|
NM_001166114.2(PNPLA6):c.864G>A (p.Pro288=)
|
rs369082833
|
0.00004
|
|
NM_001166114.2(PNPLA6):c.925-15C>T
|
rs764113115
|
0.00004
|
|
NM_001199753.2(CPT1C):c.1293G>A (p.Ala431=)
|
rs150328622
|
0.00004
|
|
NM_001199753.2(CPT1C):c.1295C>T (p.Ser432Leu)
|
rs1291529814
|
0.00004
|
|
NM_001199753.2(CPT1C):c.1450-8G>A
|
rs374640833
|
0.00004
|
|
NM_001199753.2(CPT1C):c.1801A>G (p.Thr601Ala)
|
rs774134053
|
0.00004
|
|
NM_001199753.2(CPT1C):c.1891C>T (p.Arg631Cys)
|
rs539827461
|
0.00004
|
|
NM_001199753.2(CPT1C):c.1954C>T (p.Arg652Cys)
|
rs200127061
|
0.00004
|
|
NM_001199753.2(CPT1C):c.525C>T (p.Pro175=)
|
rs748021956
|
0.00004
|
|
NM_001244008.2(KIF1A):c.*1456A>C
|
rs904152498
|
0.00004
|
|
NM_001244008.2(KIF1A):c.*3306G>A
|
rs1011371859
|
0.00004
|
|
NM_001244008.2(KIF1A):c.1080C>T (p.Ile360=)
|
rs563701542
|
0.00004
|
|
NM_001244008.2(KIF1A):c.1311G>A (p.Pro437=)
|
rs542467515
|
0.00004
|
|
NM_001244008.2(KIF1A):c.1651G>A (p.Val551Ile)
|
rs373891682
|
0.00004
|
|
NM_001244008.2(KIF1A):c.1684+17G>A
|
rs574718771
|
0.00004
|
|
NM_001244008.2(KIF1A):c.1725C>T (p.Tyr575=)
|
rs772063378
|
0.00004
|
|
NM_001244008.2(KIF1A):c.1768+18G>A
|
rs574613321
|
0.00004
|
|
NM_001244008.2(KIF1A):c.184-14T>C
|
rs753798501
|
0.00004
|
|
NM_001244008.2(KIF1A):c.1862C>T (p.Thr621Met)
|
rs760338913
|
0.00004
|
|
NM_001244008.2(KIF1A):c.1949+6G>A
|
rs769945403
|
0.00004
|
|
NM_001244008.2(KIF1A):c.1953C>T (p.Leu651=)
|
rs913726558
|
0.00004
|
|
NM_001244008.2(KIF1A):c.2116+12C>T
|
rs192836330
|
0.00004
|
|
NM_001244008.2(KIF1A):c.2147C>T (p.Ala716Val)
|
rs555749038
|
0.00004
|
|
NM_001244008.2(KIF1A):c.2187G>A (p.Thr729=)
|
rs371859121
|
0.00004
|
|
NM_001244008.2(KIF1A):c.223C>T (p.Arg75Trp)
|
rs778224699
|
0.00004
|
|
NM_001244008.2(KIF1A):c.2444+17G>A
|
rs749470460
|
0.00004
|
|
NM_001244008.2(KIF1A):c.2482G>A (p.Ala828Thr)
|
rs780483327
|
0.00004
|
|
NM_001244008.2(KIF1A):c.27G>A (p.Ala9=)
|
rs753090169
|
0.00004
|
|
NM_001244008.2(KIF1A):c.282C>T (p.Phe94=)
|
rs761915393
|
0.00004
|
|
NM_001244008.2(KIF1A):c.2859-19C>T
|
rs773475043
|
0.00004
|
|
NM_001244008.2(KIF1A):c.2961C>T (p.Ala987=)
|
rs778600504
|
0.00004
|
|
NM_001244008.2(KIF1A):c.2977+5G>A
|
rs200583714
|
0.00004
|
|
NM_001244008.2(KIF1A):c.3063+18G>A
|
rs760131986
|
0.00004
|
|
NM_001244008.2(KIF1A):c.3254A>G (p.Asp1085Gly)
|
rs550429072
|
0.00004
|
|
NM_001244008.2(KIF1A):c.3354C>T (p.Ala1118=)
|
rs374009739
|
0.00004
|
|
NM_001244008.2(KIF1A):c.3487T>A (p.Ser1163Thr)
|
rs527346259
|
0.00004
|
|
NM_001244008.2(KIF1A):c.3525C>T (p.Phe1175=)
|
rs760166545
|
0.00004
|
|
NM_001244008.2(KIF1A):c.3576C>T (p.Asp1192=)
|
rs773965535
|
0.00004
|
|
NM_001244008.2(KIF1A):c.3584+17G>C
|
rs533159208
|
0.00004
|
|
NM_001244008.2(KIF1A):c.3602G>A (p.Arg1201His)
|
rs765118465
|
0.00004
|
|
NM_001244008.2(KIF1A):c.3640+16G>A
|
rs918871481
|
0.00004
|
|
NM_001244008.2(KIF1A):c.3693C>T (p.His1231=)
|
rs375829173
|
0.00004
|
|
NM_001244008.2(KIF1A):c.369C>T (p.Cys123=)
|
rs757286820
|
0.00004
|
|
NM_001244008.2(KIF1A):c.3702C>T (p.Tyr1234=)
|
rs774242532
|
0.00004
|
|
NM_001244008.2(KIF1A):c.3741C>T (p.Ala1247=)
|
rs375646700
|
0.00004
|
|
NM_001244008.2(KIF1A):c.385C>T (p.Arg129Trp)
|
rs868067075
|
0.00004
|
|
NM_001244008.2(KIF1A):c.3930C>T (p.Asp1310=)
|
rs368865450
|
0.00004
|
|
NM_001244008.2(KIF1A):c.3942C>T (p.Ile1314=)
|
rs201423643
|
0.00004
|
|
NM_001244008.2(KIF1A):c.4006C>T (p.Arg1336Trp)
|
rs367883171
|
0.00004
|
|
NM_001244008.2(KIF1A):c.4007+12A>G
|
rs745416101
|
0.00004
|
|
NM_001244008.2(KIF1A):c.4032G>A (p.Ala1344=)
|
rs371203997
|
0.00004
|
|
NM_001244008.2(KIF1A):c.429+12C>T
|
rs369474529
|
0.00004
|
|
NM_001244008.2(KIF1A):c.4416C>T (p.Leu1472=)
|
rs774142624
|
0.00004
|
|
NM_001244008.2(KIF1A):c.4465-16T>C
|
rs1210263831
|
0.00004
|
|
NM_001244008.2(KIF1A):c.4520G>A (p.Arg1507Gln)
|
rs750045020
|
0.00004
|
|
NM_001244008.2(KIF1A):c.4613G>A (p.Arg1538His)
|
rs371195054
|
0.00004
|
|
NM_001244008.2(KIF1A):c.4626G>A (p.Leu1542=)
|
rs759679465
|
0.00004
|
|
NM_001244008.2(KIF1A):c.4659C>T (p.Ala1553=)
|
rs1269754231
|
0.00004
|
|
NM_001244008.2(KIF1A):c.4708C>T (p.His1570Tyr)
|
rs528171871
|
0.00004
|
|
NM_001244008.2(KIF1A):c.4744-4G>A
|
rs771679601
|
0.00004
|
|
NM_001244008.2(KIF1A):c.4846C>T (p.Arg1616Trp)
|
rs368124753
|
0.00004
|
|
NM_001244008.2(KIF1A):c.4975G>A (p.Glu1659Lys)
|
rs764970503
|
0.00004
|
|
NM_001244008.2(KIF1A):c.4999G>A (p.Asp1667Asn)
|
rs754893576
|
0.00004
|
|
NM_001244008.2(KIF1A):c.5056C>T (p.Leu1686=)
|
rs1015341506
|
0.00004
|
|
NM_001244008.2(KIF1A):c.5105G>A (p.Arg1702His)
|
rs369839651
|
0.00004
|
|
NM_001244008.2(KIF1A):c.5118C>T (p.Tyr1706=)
|
rs746765984
|
0.00004
|
|
NM_001244008.2(KIF1A):c.5141C>A (p.Thr1714Asn)
|
rs755084115
|
0.00004
|
|
NM_001244008.2(KIF1A):c.5142C>T (p.Thr1714=)
|
rs371810115
|
0.00004
|
|
NM_001244008.2(KIF1A):c.5269G>A (p.Ala1757Thr)
|
rs773017134
|
0.00004
|
|
NM_001244008.2(KIF1A):c.5322C>T (p.Ala1774=)
|
rs745898229
|
0.00004
|
|
NM_001244008.2(KIF1A):c.5333+8C>T
|
rs377084915
|
0.00004
|
|
NM_001244008.2(KIF1A):c.612C>T (p.Thr204=)
|
rs779712561
|
0.00004
|
|
NM_001244008.2(KIF1A):c.715G>A (p.Glu239Lys)
|
rs1231775359
|
0.00004
|
|
NM_001244008.2(KIF1A):c.756C>T (p.Ser252=)
|
rs555641774
|
0.00004
|
|
NM_001244008.2(KIF1A):c.789G>A (p.Thr263=)
|
rs368610026
|
0.00004
|
|
NM_001244008.2(KIF1A):c.850G>A (p.Ala284Thr)
|
rs756136593
|
0.00004
|
|
NM_001253852.3(AP4B1):c.1071G>A (p.Thr357=)
|
rs373289645
|
0.00004
|
|
NM_001253852.3(AP4B1):c.1177C>T (p.Arg393Ter)
|
rs374894037
|
0.00004
|
|
NM_001253852.3(AP4B1):c.1178G>A (p.Arg393Gln)
|
rs753638648
|
0.00004
|
|
NM_001253852.3(AP4B1):c.1303-11T>C
|
rs368931895
|
0.00004
|
|
NM_001253852.3(AP4B1):c.1557T>A (p.Tyr519Ter)
|
rs529495094
|
0.00004
|
|
NM_001253852.3(AP4B1):c.1558C>T (p.Arg520Cys)
|
rs200276550
|
0.00004
|
|
NM_001253852.3(AP4B1):c.1559G>A (p.Arg520His)
|
rs763842373
|
0.00004
|
|
NM_001253852.3(AP4B1):c.172G>C (p.Ala58Pro)
|
rs754770476
|
0.00004
|
|
NM_001253852.3(AP4B1):c.1748G>A (p.Arg583His)
|
rs530540257
|
0.00004
|
|
NM_001253852.3(AP4B1):c.1859T>C (p.Leu620Pro)
|
rs569988158
|
0.00004
|
|
NM_001253852.3(AP4B1):c.1870C>T (p.Arg624Cys)
|
rs368828060
|
0.00004
|
|
NM_001253852.3(AP4B1):c.2151G>A (p.Thr717=)
|
rs145170032
|
0.00004
|
|
NM_001253852.3(AP4B1):c.247G>C (p.Ala83Pro)
|
rs149478319
|
0.00004
|
|
NM_001253852.3(AP4B1):c.267G>A (p.Thr89=)
|
rs779754710
|
0.00004
|
|
NM_001253852.3(AP4B1):c.470-20A>G
|
rs577971063
|
0.00004
|
|
NM_001253852.3(AP4B1):c.682C>T (p.Arg228Cys)
|
rs371514044
|
0.00004
|
|
NM_001253852.3(AP4B1):c.891T>C (p.Leu297=)
|
rs377589103
|
0.00004
|
|
NM_001271803.2(REEP2):c.130G>A (p.Val44Ile)
|
rs772821081
|
0.00004
|
|
NM_001271803.2(REEP2):c.183-20G>A
|
rs754268226
|
0.00004
|
|
NM_001271803.2(REEP2):c.492A>G (p.Ala164=)
|
rs773378320
|
0.00004
|
|
NM_001351169.2(NT5C2):c.101+16A>G
|
rs1369375161
|
0.00004
|
|
NM_001351169.2(NT5C2):c.44T>C (p.Met15Thr)
|
rs751896016
|
0.00004
|
|
NM_001351169.2(NT5C2):c.465A>G (p.Thr155=)
|
rs115843728
|
0.00004
|
|
NM_001351169.2(NT5C2):c.656T>C (p.Val219Ala)
|
rs116066839
|
0.00004
|
|
NM_001368809.2(AMPD2):c.-43G>T
|
rs768664971
|
0.00004
|
|
NM_001368809.2(AMPD2):c.-94G>T
|
rs1012698060
|
0.00004
|
|
NM_001368809.2(AMPD2):c.1236G>A (p.Thr412=)
|
rs143970486
|
0.00004
|
|
NM_001368809.2(AMPD2):c.1479G>A (p.Ser493=)
|
rs777419165
|
0.00004
|
|
NM_001368809.2(AMPD2):c.1734G>A (p.Lys578=)
|
rs781503038
|
0.00004
|
|
NM_001368809.2(AMPD2):c.1750T>C (p.Phe584Leu)
|
rs763257527
|
0.00004
|
|
NM_001368809.2(AMPD2):c.1871G>T (p.Gly624Val)
|
rs1349754803
|
0.00004
|
|
NM_001368809.2(AMPD2):c.222+19C>T
|
rs200880116
|
0.00004
|
|
NM_001368809.2(AMPD2):c.2269-12C>T
|
rs753510697
|
0.00004
|
|
NM_001368809.2(AMPD2):c.283G>A (p.Glu95Lys)
|
rs776751502
|
0.00004
|
|
NM_001368809.2(AMPD2):c.423-20C>T
|
rs112705694
|
0.00004
|
|
NM_001368809.2(AMPD2):c.740C>T (p.Ala247Val)
|
rs145441666
|
0.00004
|
|
NM_001368809.2(AMPD2):c.861-11C>T
|
rs368738130
|
0.00004
|
|
NM_001371279.1(REEP1):c.144C>T (p.Phe48=)
|
rs753785265
|
0.00004
|
|
NM_001371279.1(REEP1):c.270G>A (p.Lys90=)
|
rs141929755
|
0.00004
|
|
NM_001371279.1(REEP1):c.32+19C>G
|
rs536482080
|
0.00004
|
|
NM_001776.6(ENTPD1):c.1185G>C (p.Glu395Asp)
|
rs374624208
|
0.00004
|
|
NM_001776.6(ENTPD1):c.1338C>T (p.Ser446=)
|
rs139646807
|
0.00004
|
|
NM_001776.6(ENTPD1):c.144+10A>G
|
rs1197123531
|
0.00004
|
|
NM_001776.6(ENTPD1):c.24C>T (p.Asn8=)
|
rs368856010
|
0.00004
|
|
NM_001776.6(ENTPD1):c.262+9A>G
|
rs371120547
|
0.00004
|
|
NM_001776.6(ENTPD1):c.325A>C (p.Met109Leu)
|
rs139597339
|
0.00004
|
|
NM_001776.6(ENTPD1):c.814-6A>G
|
rs549511254
|
0.00004
|
|
NM_002361.4(MAG):c.1680C>T (p.Ser560=)
|
rs368402881
|
0.00004
|
|
NM_002361.4(MAG):c.319G>A (p.Val107Ile)
|
rs186777043
|
0.00004
|
|
NM_002361.4(MAG):c.415+4A>C
|
rs769703123
|
0.00004
|
|
NM_002361.4(MAG):c.849G>A (p.Ala283=)
|
rs140197131
|
0.00004
|
|
NM_002361.4(MAG):c.971-4G>A
|
rs201450065
|
0.00004
|
|
NM_002693.3(POLG):c.2085T>G (p.Asp695Glu)
|
rs776848222
|
0.00004
|
|
NM_002693.3(POLG):c.2880C>T (p.Pro960=)
|
rs752500492
|
0.00004
|
|
NM_002693.3(POLG):c.3667A>G (p.Ile1223Val)
|
rs148786642
|
0.00004
|
|
NM_002860.4(ALDH18A1):c.1014C>T (p.His338=)
|
rs150056435
|
0.00004
|
|
NM_002860.4(ALDH18A1):c.1078+17A>G
|
rs745857450
|
0.00004
|
|
NM_002860.4(ALDH18A1):c.1112G>A (p.Arg371Gln)
|
rs745614904
|
0.00004
|
|
NM_002860.4(ALDH18A1):c.1351G>A (p.Val451Met)
|
rs111344269
|
0.00004
|
|
NM_002860.4(ALDH18A1):c.1368C>T (p.Arg456=)
|
rs369979669
|
0.00004
|
|
NM_002860.4(ALDH18A1):c.1393G>A (p.Glu465Lys)
|
rs757876226
|
0.00004
|
|
NM_002860.4(ALDH18A1):c.1485C>T (p.Ile495=)
|
rs777125038
|
0.00004
|
|
NM_002860.4(ALDH18A1):c.169C>A (p.His57Asn)
|
rs200858692
|
0.00004
|
|
NM_002860.4(ALDH18A1):c.1800A>G (p.Leu600=)
|
rs141192935
|
0.00004
|
|
NM_002860.4(ALDH18A1):c.1865G>A (p.Arg622Gln)
|
rs774274057
|
0.00004
|
|
NM_002860.4(ALDH18A1):c.2177G>A (p.Arg726His)
|
rs773714478
|
0.00004
|
|
NM_002860.4(ALDH18A1):c.2206+17T>C
|
rs200513474
|
0.00004
|
|
NM_002860.4(ALDH18A1):c.2276C>T (p.Thr759Ile)
|
rs781126562
|
0.00004
|
|
NM_002860.4(ALDH18A1):c.240C>T (p.Ala80=)
|
rs1016828034
|
0.00004
|
|
NM_002860.4(ALDH18A1):c.27G>C (p.Gly9=)
|
rs368431558
|
0.00004
|
|
NM_002860.4(ALDH18A1):c.304-3C>T
|
rs188362786
|
0.00004
|
|
NM_002860.4(ALDH18A1):c.357C>T (p.Ala119=)
|
rs767594147
|
0.00004
|
|
NM_002860.4(ALDH18A1):c.429G>A (p.Ser143=)
|
rs745705105
|
0.00004
|
|
NM_002860.4(ALDH18A1):c.847C>T (p.Leu283Phe)
|
rs747291828
|
0.00004
|
|
NM_002860.4(ALDH18A1):c.88C>T (p.His30Tyr)
|
rs113678237
|
0.00004
|
|
NM_003119.4(SPG7):c.*11T>A
|
rs201811837
|
0.00004
|
|
NM_003119.4(SPG7):c.1033G>A (p.Ala345Thr)
|
rs368373840
|
0.00004
|
|
NM_003119.4(SPG7):c.1172G>A (p.Arg391Gln)
|
rs778409451
|
0.00004
|
|
NM_003119.4(SPG7):c.1198C>T (p.Arg400Trp)
|
rs748024868
|
0.00004
|
|
NM_003119.4(SPG7):c.1266C>T (p.Ser422=)
|
rs767857665
|
0.00004
|
|
NM_003119.4(SPG7):c.1422C>T (p.His474=)
|
rs201482100
|
0.00004
|
|
NM_003119.4(SPG7):c.1447C>T (p.Gln483Ter)
|
rs562890289
|
0.00004
|
|
NM_003119.4(SPG7):c.1553-20G>A
|
rs753649905
|
0.00004
|
|
NM_003119.4(SPG7):c.1601G>A (p.Arg534Gln)
|
rs757160836
|
0.00004
|
|
NM_003119.4(SPG7):c.1654G>A (p.Val552Ile)
|
rs750306995
|
0.00004
|
|
NM_003119.4(SPG7):c.1663+14G>A
|
rs368500645
|
0.00004
|
|
NM_003119.4(SPG7):c.1752G>C (p.Met584Ile)
|
rs753337774
|
0.00004
|
|
NM_003119.4(SPG7):c.1807G>A (p.Ala603Thr)
|
rs370852816
|
0.00004
|
|
NM_003119.4(SPG7):c.1812G>A (p.Leu604=)
|
rs114474424
|
0.00004
|
|
NM_003119.4(SPG7):c.1830C>T (p.Leu610=)
|
rs746099594
|
0.00004
|
|
NM_003119.4(SPG7):c.184-4T>C
|
rs533778042
|
0.00004
|
|
NM_003119.4(SPG7):c.1936+15C>T
|
rs370954971
|
0.00004
|
|
NM_003119.4(SPG7):c.1948G>A (p.Asp650Asn)
|
rs769602042
|
0.00004
|
|
NM_003119.4(SPG7):c.1966C>T (p.Arg656Cys)
|
rs536084933
|
0.00004
|
|
NM_003119.4(SPG7):c.2014G>A (p.Gly672Arg)
|
rs369503365
|
0.00004
|
|
NM_003119.4(SPG7):c.2096dup (p.Met699fs)
|
rs747503698
|
0.00004
|
|
NM_003119.4(SPG7):c.2298C>G (p.Ala766=)
|
rs61756187
|
0.00004
|
|
NM_003119.4(SPG7):c.2370G>A (p.Glu790=)
|
rs936520999
|
0.00004
|
|
NM_003119.4(SPG7):c.566G>A (p.Ser189Asn)
|
rs762049799
|
0.00004
|
|
NM_003119.4(SPG7):c.578A>G (p.Glu193Gly)
|
rs114191002
|
0.00004
|
|
NM_003119.4(SPG7):c.656T>C (p.Ile219Thr)
|
rs114255772
|
0.00004
|
|
NM_003119.4(SPG7):c.861+2dup
|
rs771256761
|
0.00004
|
|
NM_003119.4(SPG7):c.988-3C>T
|
rs533584901
|
0.00004
|
|
NM_004722.4(AP4M1):c.1012C>T (p.Arg338Ter)
|
rs146262009
|
0.00004
|
|
NM_004722.4(AP4M1):c.1060G>C (p.Ala354Pro)
|
rs201015648
|
0.00004
|
|
NM_004722.4(AP4M1):c.163C>T (p.His55Tyr)
|
rs578114705
|
0.00004
|
|
NM_004722.4(AP4M1):c.289C>T (p.Leu97=)
|
rs376025594
|
0.00004
|
|
NM_004722.4(AP4M1):c.496C>T (p.Pro166Ser)
|
rs201290190
|
0.00004
|
|
NM_004722.4(AP4M1):c.679C>T (p.Arg227Cys)
|
rs369201294
|
0.00004
|
|
NM_004722.4(AP4M1):c.786C>T (p.Asp262=)
|
rs750687666
|
0.00004
|
|
NM_004722.4(AP4M1):c.916C>T (p.Arg306Ter)
|
rs369459721
|
0.00004
|
|
NM_004722.4(AP4M1):c.92A>T (p.Glu31Val)
|
rs140286559
|
0.00004
|
|
NM_004722.4(AP4M1):c.981C>T (p.Ala327=)
|
rs563402705
|
0.00004
|
|
NM_004820.5(CYP7B1):c.515C>A (p.Thr172Asn)
|
rs569241534
|
0.00004
|
|
NM_004820.5(CYP7B1):c.832G>A (p.Glu278Lys)
|
rs751907012
|
0.00004
|
|
NM_004984.4(KIF5A):c.292-14C>A
|
rs778921032
|
0.00004
|
|
NM_004984.4(KIF5A):c.566C>T (p.Ser189Leu)
|
rs140144799
|
0.00004
|
|
NM_005154.5(USP8):c.2246A>G (p.Tyr749Cys)
|
rs898810598
|
0.00004
|
|
NM_005154.5(USP8):c.2287C>T (p.Arg763Trp)
|
rs78143971
|
0.00004
|
|
NM_005154.5(USP8):c.2292C>A (p.Asn764Lys)
|
rs74840283
|
0.00004
|
|
NM_005154.5(USP8):c.2391C>T (p.Asn797=)
|
rs199814360
|
0.00004
|
|
NM_005154.5(USP8):c.2972G>A (p.Arg991Gln)
|
rs755050919
|
0.00004
|
|
NM_005186.4(CAPN1):c.929+2T>A
|
rs1356340954
|
0.00004
|
|
NM_005619.5(RTN2):c.*270C>T
|
rs527298509
|
0.00004
|
|
NM_005619.5(RTN2):c.1476C>G (p.Pro492=)
|
rs748824542
|
0.00004
|
|
NM_005619.5(RTN2):c.986G>A (p.Ser329Asn)
|
rs145653668
|
0.00004
|
|
NM_006070.6(TFG):c.1002T>G (p.Ser334=)
|
rs761683764
|
0.00004
|
|
NM_006070.6(TFG):c.1146G>A (p.Ala382=)
|
rs761808737
|
0.00004
|
|
NM_006070.6(TFG):c.68G>A (p.Arg23Gln)
|
rs774808090
|
0.00004
|
|
NM_006070.6(TFG):c.753C>T (p.Ala251=)
|
rs561791332
|
0.00004
|
|
NM_006070.6(TFG):c.820+3G>A
|
rs367852812
|
0.00004
|
|
NM_006070.6(TFG):c.996A>G (p.Gln332=)
|
rs774298210
|
0.00004
|
|
NM_006459.4(ERLIN1):c.195+11C>G
|
rs769811237
|
0.00004
|
|
NM_006459.4(ERLIN1):c.315C>T (p.Ile105=)
|
rs373926474
|
0.00004
|
|
NM_006517.5(SLC16A2):c.1430A>G (p.His477Arg)
|
rs754443385
|
0.00004
|
|
NM_006567.5(FARS2):c.461C>T (p.Ala154Val)
|
rs749588235
|
0.00004
|
|
NM_006567.5(FARS2):c.497C>T (p.Ala166Val)
|
rs538791135
|
0.00004
|
|
NM_006612.6(KIF1C):c.1020-14C>G
|
rs201164122
|
0.00004
|
|
NM_006612.6(KIF1C):c.1492-6G>A
|
rs372819668
|
0.00004
|
|
NM_006612.6(KIF1C):c.2109G>A (p.Thr703=)
|
rs372267137
|
0.00004
|
|
NM_006612.6(KIF1C):c.2293C>T (p.Arg765Cys)
|
rs767797244
|
0.00004
|
|
NM_006612.6(KIF1C):c.2429A>C (p.Glu810Ala)
|
rs182610831
|
0.00004
|
|
NM_006612.6(KIF1C):c.2719C>T (p.Arg907Cys)
|
rs758990694
|
0.00004
|
|
NM_006612.6(KIF1C):c.2887C>T (p.Arg963Cys)
|
rs768222656
|
0.00004
|
|
NM_006612.6(KIF1C):c.3207A>C (p.Pro1069=)
|
rs768877923
|
0.00004
|
|
NM_006612.6(KIF1C):c.528G>A (p.Pro176=)
|
rs775719793
|
0.00004
|
|
NM_006612.6(KIF1C):c.766G>A (p.Asp256Asn)
|
rs150280414
|
0.00004
|
|
NM_006612.6(KIF1C):c.996C>T (p.Tyr332=)
|
rs143283587
|
0.00004
|
|
NM_007215.4(POLG2):c.851G>A (p.Arg284Gln)
|
rs782115619
|
0.00004
|
|
NM_012073.5(CCT5):c.*1126T>A
|
rs375626550
|
0.00004
|
|
NM_012073.5(CCT5):c.*1401G>A
|
rs188649700
|
0.00004
|
|
NM_012073.5(CCT5):c.*347T>C
|
rs774174590
|
0.00004
|
|
NM_012073.5(CCT5):c.1075G>A (p.Val359Ile)
|
rs147989324
|
0.00004
|
|
NM_012073.5(CCT5):c.122C>G (p.Ala41Gly)
|
rs1337016126
|
0.00004
|
|
NM_012073.5(CCT5):c.1283C>G (p.Ser428Cys)
|
rs201280643
|
0.00004
|
|
NM_012073.5(CCT5):c.1310C>T (p.Ala437Val)
|
rs149067488
|
0.00004
|
|
NM_012073.5(CCT5):c.332-17T>C
|
rs372131014
|
0.00004
|
|
NM_012073.5(CCT5):c.759T>C (p.Cys253=)
|
rs542323956
|
0.00004
|
|
NM_012073.5(CCT5):c.878A>T (p.Lys293Ile)
|
rs148752621
|
0.00004
|
|
NM_014363.6(SACS):c.11049T>C (p.Asn3683=)
|
rs773770705
|
0.00004
|
|
NM_014363.6(SACS):c.12968C>T (p.Ser4323Leu)
|
rs150225486
|
0.00004
|
|
NM_014363.6(SACS):c.1905G>A (p.Leu635=)
|
rs771581634
|
0.00004
|
|
NM_014363.6(SACS):c.5461T>C (p.Cys1821Arg)
|
rs376680832
|
0.00004
|
|
NM_014363.6(SACS):c.7150G>A (p.Glu2384Lys)
|
rs762896797
|
0.00004
|
|
NM_014363.6(SACS):c.8450C>T (p.Thr2817Met)
|
rs371652968
|
0.00004
|
|
NM_014363.6(SACS):c.874G>T (p.Val292Phe)
|
rs760555463
|
0.00004
|
|
NM_014363.6(SACS):c.9947A>C (p.Gln3316Pro)
|
rs775506976
|
0.00004
|
|
NM_014844.5(TECPR2):c.1261G>A (p.Gly421Arg)
|
rs141146184
|
0.00004
|
|
NM_014844.5(TECPR2):c.1327A>G (p.Arg443Gly)
|
rs199977652
|
0.00004
|
|
NM_014844.5(TECPR2):c.1335C>T (p.Asn445=)
|
rs778115838
|
0.00004
|
|
NM_014844.5(TECPR2):c.1518G>A (p.Ser506=)
|
rs370643085
|
0.00004
|
|
NM_014844.5(TECPR2):c.1725T>C (p.His575=)
|
rs772499602
|
0.00004
|
|
NM_014844.5(TECPR2):c.1971C>T (p.Ala657=)
|
rs373400063
|
0.00004
|
|
NM_014844.5(TECPR2):c.2664C>T (p.Tyr888=)
|
rs776185972
|
0.00004
|
|
NM_014844.5(TECPR2):c.2933+9G>A
|
rs549959695
|
0.00004
|
|
NM_014844.5(TECPR2):c.3093T>C (p.Tyr1031=)
|
rs773749864
|
0.00004
|
|
NM_014844.5(TECPR2):c.3501C>T (p.Pro1167=)
|
rs746956794
|
0.00004
|
|
NM_014844.5(TECPR2):c.3507C>T (p.Ala1169=)
|
rs775448295
|
0.00004
|
|
NM_014844.5(TECPR2):c.3521A>G (p.Tyr1174Cys)
|
rs767911807
|
0.00004
|
|
NM_014844.5(TECPR2):c.3580A>G (p.Thr1194Ala)
|
rs746763770
|
0.00004
|
|
NM_014844.5(TECPR2):c.3979C>T (p.Arg1327Cys)
|
rs763261549
|
0.00004
|
|
NM_014844.5(TECPR2):c.4011C>T (p.Tyr1337=)
|
rs531905416
|
0.00004
|
|
NM_014844.5(TECPR2):c.4032C>T (p.Pro1344=)
|
rs764511150
|
0.00004
|
|
NM_014844.5(TECPR2):c.4119C>T (p.Pro1373=)
|
rs536343745
|
0.00004
|
|
NM_014844.5(TECPR2):c.4136G>A (p.Arg1379Gln)
|
rs773443293
|
0.00004
|
|
NM_014844.5(TECPR2):c.413A>G (p.Asn138Ser)
|
rs750512288
|
0.00004
|
|
NM_014844.5(TECPR2):c.4189G>A (p.Ala1397Thr)
|
rs376123886
|
0.00004
|
|
NM_014844.5(TECPR2):c.632G>A (p.Arg211Lys)
|
rs201081739
|
0.00004
|
|
NM_014844.5(TECPR2):c.669A>C (p.Pro223=)
|
rs750443286
|
0.00004
|
|
NM_014844.5(TECPR2):c.715G>A (p.Gly239Arg)
|
rs750922939
|
0.00004
|
|
NM_014846.4(WASHC5):c.1576G>A (p.Asp526Asn)
|
rs766834356
|
0.00004
|
|
NM_014846.4(WASHC5):c.1830C>T (p.Ser610=)
|
rs190138661
|
0.00004
|
|
NM_014846.4(WASHC5):c.2076G>A (p.Thr692=)
|
rs746121315
|
0.00004
|
|
NM_014846.4(WASHC5):c.2238G>A (p.Ala746=)
|
rs376307168
|
0.00004
|
|
NM_014846.4(WASHC5):c.2489G>A (p.Arg830Gln)
|
rs749703625
|
0.00004
|
|
NM_014846.4(WASHC5):c.2533A>G (p.Thr845Ala)
|
rs553869211
|
0.00004
|
|
NM_014846.4(WASHC5):c.2716C>G (p.Gln906Glu)
|
rs757250722
|
0.00004
|
|
NM_014846.4(WASHC5):c.2752C>T (p.Pro918Ser)
|
rs367744328
|
0.00004
|
|
NM_014846.4(WASHC5):c.3103C>T (p.Arg1035Cys)
|
rs758843087
|
0.00004
|
|
NM_014846.4(WASHC5):c.3210G>A (p.Pro1070=)
|
rs200733182
|
0.00004
|
|
NM_014846.4(WASHC5):c.439G>A (p.Gly147Arg)
|
rs979115163
|
0.00004
|
|
NM_014846.4(WASHC5):c.612A>G (p.Pro204=)
|
rs376240904
|
0.00004
|
|
NM_014846.4(WASHC5):c.875T>C (p.Ile292Thr)
|
rs1218811554
|
0.00004
|
|
NM_014855.3(AP5Z1):c.*189G>A
|
rs548571464
|
0.00004
|
|
NM_014855.3(AP5Z1):c.*2784C>T
|
rs573731436
|
0.00004
|
|
NM_014855.3(AP5Z1):c.1009C>T (p.Arg337Trp)
|
rs367981328
|
0.00004
|
|
NM_014855.3(AP5Z1):c.1033C>T (p.Arg345Ter)
|
rs762066700
|
0.00004
|
|
NM_014855.3(AP5Z1):c.1254C>G (p.Leu418=)
|
rs763868444
|
0.00004
|
|
NM_014855.3(AP5Z1):c.127G>A (p.Asp43Asn)
|
rs370859268
|
0.00004
|
|
NM_014855.3(AP5Z1):c.1430C>T (p.Thr477Met)
|
rs375742671
|
0.00004
|
|
NM_014855.3(AP5Z1):c.1437G>T (p.Val479=)
|
rs1038245729
|
0.00004
|
|
NM_014855.3(AP5Z1):c.1464G>A (p.Pro488=)
|
rs376913055
|
0.00004
|
|
NM_014855.3(AP5Z1):c.1536G>A (p.Pro512=)
|
rs757364334
|
0.00004
|
|
NM_014855.3(AP5Z1):c.1568G>A (p.Arg523His)
|
rs370116509
|
0.00004
|
|
NM_014855.3(AP5Z1):c.158C>A (p.Ser53Ter)
|
rs774738874
|
0.00004
|
|
NM_014855.3(AP5Z1):c.1788C>T (p.Tyr596=)
|
rs768113900
|
0.00004
|
|
NM_014855.3(AP5Z1):c.1789G>A (p.Ala597Thr)
|
rs372555306
|
0.00004
|
|
NM_014855.3(AP5Z1):c.180-9G>A
|
rs529887558
|
0.00004
|
|
NM_014855.3(AP5Z1):c.1838C>T (p.Thr613Met)
|
rs766057998
|
0.00004
|
|
NM_014855.3(AP5Z1):c.1839G>A (p.Thr613=)
|
rs964017328
|
0.00004
|
|
NM_014855.3(AP5Z1):c.1951G>A (p.Gly651Ser)
|
rs772049256
|
0.00004
|
|
NM_014855.3(AP5Z1):c.1989C>T (p.Thr663=)
|
rs547171686
|
0.00004
|
|
NM_014855.3(AP5Z1):c.2054G>A (p.Arg685His)
|
rs371817388
|
0.00004
|
|
NM_014855.3(AP5Z1):c.210G>A (p.Gln70=)
|
rs767417376
|
0.00004
|
|
NM_014855.3(AP5Z1):c.2148C>A (p.Ile716=)
|
rs578236834
|
0.00004
|
|
NM_014855.3(AP5Z1):c.2197C>G (p.Pro733Ala)
|
rs764991282
|
0.00004
|
|
NM_014855.3(AP5Z1):c.2306C>G (p.Thr769Arg)
|
rs757790495
|
0.00004
|
|
NM_014855.3(AP5Z1):c.272G>A (p.Arg91Gln)
|
rs750211507
|
0.00004
|
|
NM_014855.3(AP5Z1):c.355C>G (p.Leu119Val)
|
rs751601075
|
0.00004
|
|
NM_014855.3(AP5Z1):c.540G>A (p.Leu180=)
|
rs768017182
|
0.00004
|
|
NM_014855.3(AP5Z1):c.543C>T (p.Val181=)
|
rs1050248739
|
0.00004
|
|
NM_014855.3(AP5Z1):c.624G>A (p.Pro208=)
|
rs772392202
|
0.00004
|
|
NM_014855.3(AP5Z1):c.656C>G (p.Ala219Gly)
|
rs767507147
|
0.00004
|
|
NM_014855.3(AP5Z1):c.660A>G (p.Thr220=)
|
rs756140557
|
0.00004
|
|
NM_014855.3(AP5Z1):c.854G>A (p.Arg285His)
|
rs374794960
|
0.00004
|
|
NM_014855.3(AP5Z1):c.891C>T (p.Ala297=)
|
rs763250825
|
0.00004
|
|
NM_014855.3(AP5Z1):c.894C>T (p.Phe298=)
|
rs777233282
|
0.00004
|
|
NM_014855.3(AP5Z1):c.985G>A (p.Val329Met)
|
rs764235114
|
0.00004
|
|
NM_014946.4(SPAST):c.1173+9T>C
|
rs775558266
|
0.00004
|
|
NM_014946.4(SPAST):c.1785C>T (p.Ser595=)
|
rs145206063
|
0.00004
|
|
NM_014946.4(SPAST):c.1808C>T (p.Ala603Val)
|
rs368801051
|
0.00004
|
|
NM_014946.4(SPAST):c.441A>G (p.Glu147=)
|
rs375027118
|
0.00004
|
|
NM_015046.7(SETX):c.1140T>G (p.Pro380=)
|
rs140553290
|
0.00004
|
|
NM_015046.7(SETX):c.1811C>G (p.Thr604Ser)
|
rs1005649811
|
0.00004
|
|
NM_015046.7(SETX):c.2490A>C (p.Gly830=)
|
rs751429987
|
0.00004
|
|
NM_015046.7(SETX):c.2502A>G (p.Gly834=)
|
rs762818441
|
0.00004
|
|
NM_015046.7(SETX):c.2543T>G (p.Val848Gly)
|
rs567711722
|
0.00004
|
|
NM_015046.7(SETX):c.4979A>G (p.His1660Arg)
|
rs371894414
|
0.00004
|
|
NM_015046.7(SETX):c.6435C>T (p.Ile2145=)
|
rs374110190
|
0.00004
|
|
NM_015046.7(SETX):c.719-4A>G
|
rs775443601
|
0.00004
|
|
NM_015046.7(SETX):c.77C>T (p.Pro26Leu)
|
rs377617692
|
0.00004
|
|
NM_015087.5(SPART):c.*2053C>T
|
rs1225309487
|
0.00004
|
|
NM_015087.5(SPART):c.*446T>C
|
rs190515727
|
0.00004
|
|
NM_015087.5(SPART):c.560A>G (p.Tyr187Cys)
|
rs375284717
|
0.00004
|
|
NM_015087.5(SPART):c.798C>T (p.Pro266=)
|
rs769573100
|
0.00004
|
|
NM_015087.5(SPART):c.843T>A (p.Asp281Glu)
|
rs1264655090
|
0.00004
|
|
NM_015214.3(DDHD2):c.1131G>A (p.Ser377=)
|
rs138763105
|
0.00004
|
|
NM_015214.3(DDHD2):c.1361C>A (p.Ala454Asp)
|
rs1005295323
|
0.00004
|
|
NM_015214.3(DDHD2):c.139T>G (p.Cys47Gly)
|
rs200883537
|
0.00004
|
|
NM_015214.3(DDHD2):c.1778C>T (p.Ser593Leu)
|
rs371592123
|
0.00004
|
|
NM_015214.3(DDHD2):c.221-9C>T
|
rs746277193
|
0.00004
|
|
NM_015214.3(DDHD2):c.667A>G (p.Ile223Val)
|
rs180936280
|
0.00004
|
|
NM_015346.4(ZFYVE26):c.*101G>A
|
rs886050651
|
0.00004
|
|
NM_015346.4(ZFYVE26):c.*191T>C
|
rs775283057
|
0.00004
|
|
NM_015346.4(ZFYVE26):c.*411G>A
|
rs376837091
|
0.00004
|
|
NM_015346.4(ZFYVE26):c.*774G>A
|
rs544883854
|
0.00004
|
|
NM_015346.4(ZFYVE26):c.*960G>A
|
rs768581277
|
0.00004
|
|
NM_015346.4(ZFYVE26):c.1387C>T (p.Leu463Phe)
|
rs556064894
|
0.00004
|
|
NM_015346.4(ZFYVE26):c.1526A>G (p.Tyr509Cys)
|
rs767673365
|
0.00004
|
|
NM_015346.4(ZFYVE26):c.1597G>A (p.Ala533Thr)
|
rs551062468
|
0.00004
|
|
NM_015346.4(ZFYVE26):c.416A>G (p.Asn139Ser)
|
rs754388575
|
0.00004
|
|
NM_015346.4(ZFYVE26):c.4694A>G (p.Glu1565Gly)
|
rs759468816
|
0.00004
|
|
NM_015346.4(ZFYVE26):c.4955C>T (p.Ala1652Val)
|
rs752388667
|
0.00004
|
|
NM_015346.4(ZFYVE26):c.540C>T (p.Asp180=)
|
rs150289689
|
0.00004
|
|
NM_015346.4(ZFYVE26):c.6160-13A>G
|
rs759043669
|
0.00004
|
|
NM_015346.4(ZFYVE26):c.827G>A (p.Gly276Asp)
|
rs201273988
|
0.00004
|
|
NM_015915.5(ATL1):c.1355T>C (p.Phe452Ser)
|
rs759126910
|
0.00004
|
|
NM_015915.5(ATL1):c.1452C>T (p.Thr484=)
|
rs752761440
|
0.00004
|
|
NM_015915.5(ATL1):c.176C>T (p.Ser59Leu)
|
rs1278783412
|
0.00004
|
|
NM_015915.5(ATL1):c.200T>C (p.Val67Ala)
|
rs768342546
|
0.00004
|
|
NM_015915.5(ATL1):c.27C>G (p.Asn9Lys)
|
rs752593199
|
0.00004
|
|
NM_015915.5(ATL1):c.311A>G (p.Asn104Ser)
|
rs377736535
|
0.00004
|
|
NM_015915.5(ATL1):c.570C>G (p.Leu190=)
|
rs202173614
|
0.00004
|
|
NM_015915.5(ATL1):c.654C>T (p.Asp218=)
|
rs746330841
|
0.00004
|
|
NM_015915.5(ATL1):c.879C>T (p.Phe293=)
|
rs745748043
|
0.00004
|
|
NM_015915.5(ATL1):c.969G>C (p.Arg323=)
|
rs753145983
|
0.00004
|
|
NM_015915.5(ATL1):c.991-12C>G
|
rs371714758
|
0.00004
|
|
NM_016630.7(SPG21):c.153T>C (p.Pro51=)
|
rs771940904
|
0.00004
|
|
NM_016630.7(SPG21):c.360A>G (p.Glu120=)
|
rs746913301
|
0.00004
|
|
NM_016630.7(SPG21):c.452+2T>C
|
rs755390093
|
0.00004
|
|
NM_020435.4(GJC2):c.285G>A (p.Leu95=)
|
rs148764840
|
0.00004
|
|
NM_020919.4(ALS2):c.2282A>G (p.His761Arg)
|
rs370377488
|
0.00004
|
|
NM_020944.3(GBA2):c.1A>T (p.Met1Leu)
|
rs770566458
|
0.00004
|
|
NM_020944.3(GBA2):c.300C>G (p.Pro100=)
|
rs202140393
|
0.00004
|
|
NM_020944.3(GBA2):c.746C>T (p.Thr249Ile)
|
rs370954241
|
0.00004
|
|
NM_020944.3(GBA2):c.959G>A (p.Arg320Gln)
|
rs368192956
|
0.00004
|
|
NM_022089.4(ATP13A2):c.*155C>T
|
rs762111359
|
0.00004
|
|
NM_022089.4(ATP13A2):c.1182G>T (p.Val394=)
|
rs372159448
|
0.00004
|
|
NM_022089.4(ATP13A2):c.144C>T (p.Ile48=)
|
rs375615601
|
0.00004
|
|
NM_022089.4(ATP13A2):c.153C>T (p.His51=)
|
rs759666274
|
0.00004
|
|
NM_022089.4(ATP13A2):c.1542+3G>A
|
rs747456787
|
0.00004
|
|
NM_022089.4(ATP13A2):c.1545G>A (p.Thr515=)
|
rs373005131
|
0.00004
|
|
NM_022089.4(ATP13A2):c.1630C>T (p.Arg544Cys)
|
rs893985839
|
0.00004
|
|
NM_022089.4(ATP13A2):c.1766C>T (p.Pro589Leu)
|
rs758992649
|
0.00004
|
|
NM_022089.4(ATP13A2):c.2407G>A (p.Val803Ile)
|
rs747785443
|
0.00004
|
|
NM_022089.4(ATP13A2):c.2412G>A (p.Lys804=)
|
rs978493820
|
0.00004
|
|
NM_022089.4(ATP13A2):c.2558G>A (p.Arg853His)
|
rs745954026
|
0.00004
|
|
NM_022089.4(ATP13A2):c.25G>A (p.Val9Met)
|
rs143579092
|
0.00004
|
|
NM_022089.4(ATP13A2):c.2640C>T (p.Ala880=)
|
rs567287489
|
0.00004
|
|
NM_022089.4(ATP13A2):c.2745C>T (p.Cys915=)
|
rs372361807
|
0.00004
|
|
NM_022089.4(ATP13A2):c.2746G>A (p.Val916Met)
|
rs768674400
|
0.00004
|
|
NM_022089.4(ATP13A2):c.2763-17C>T
|
rs367638044
|
0.00004
|
|
NM_022089.4(ATP13A2):c.2828C>T (p.Thr943Ile)
|
rs1401431520
|
0.00004
|
|
NM_022089.4(ATP13A2):c.2952G>A (p.Ala984=)
|
rs138212767
|
0.00004
|
|
NM_022089.4(ATP13A2):c.3112G>A (p.Ala1038Thr)
|
rs757076945
|
0.00004
|
|
NM_022089.4(ATP13A2):c.3205G>A (p.Ala1069Thr)
|
rs774238872
|
0.00004
|
|
NM_022089.4(ATP13A2):c.3215G>A (p.Arg1072His)
|
rs371220869
|
0.00004
|
|
NM_022089.4(ATP13A2):c.3235+16C>T
|
rs373315947
|
0.00004
|
|
NM_022089.4(ATP13A2):c.3442C>T (p.Arg1148Cys)
|
rs759327218
|
0.00004
|
|
NM_022089.4(ATP13A2):c.3443G>A (p.Arg1148His)
|
rs533548757
|
0.00004
|
|
NM_022089.4(ATP13A2):c.374C>G (p.Ala125Gly)
|
rs1050244144
|
0.00004
|
|
NM_022089.4(ATP13A2):c.394G>A (p.Ala132Thr)
|
rs200934541
|
0.00004
|
|
NM_022089.4(ATP13A2):c.407C>T (p.Ala136Val)
|
rs562519835
|
0.00004
|
|
NM_022089.4(ATP13A2):c.649G>A (p.Gly217Ser)
|
rs199961048
|
0.00004
|
|
NM_022089.4(ATP13A2):c.722A>G (p.Tyr241Cys)
|
rs1221004929
|
0.00004
|
|
NM_022089.4(ATP13A2):c.993C>T (p.Ala331=)
|
rs568367953
|
0.00004
|
|
NM_024306.5(FA2H):c.1030C>G (p.Gln344Glu)
|
rs748697810
|
0.00004
|
|
NM_024306.5(FA2H):c.620C>T (p.Thr207Met)
|
rs372445274
|
0.00004
|
|
NM_025137.4(SPG11):c.*241C>G
|
rs527843501
|
0.00004
|
|
NM_025137.4(SPG11):c.*299G>T
|
rs774245742
|
0.00004
|
|
NM_025137.4(SPG11):c.-4C>A
|
rs373060702
|
0.00004
|
|
NM_025137.4(SPG11):c.1001T>C (p.Ile334Thr)
|
rs760573942
|
0.00004
|
|
NM_025137.4(SPG11):c.1248G>T (p.Met416Ile)
|
rs371310453
|
0.00004
|
|
NM_025137.4(SPG11):c.1348dup (p.Ile450fs)
|
rs312262725
|
0.00004
|
|
NM_025137.4(SPG11):c.1437G>T (p.Gln479His)
|
rs377499551
|
0.00004
|
|
NM_025137.4(SPG11):c.1821A>G (p.Ser607=)
|
rs181229662
|
0.00004
|
|
NM_025137.4(SPG11):c.1891+16A>G
|
rs557248278
|
0.00004
|
|
NM_025137.4(SPG11):c.2066A>G (p.Glu689Gly)
|
rs748241805
|
0.00004
|
|
NM_025137.4(SPG11):c.2068-4C>T
|
rs774288495
|
0.00004
|
|
NM_025137.4(SPG11):c.2301T>C (p.Asn767=)
|
rs751121188
|
0.00004
|
|
NM_025137.4(SPG11):c.23C>G (p.Ala8Gly)
|
rs200939573
|
0.00004
|
|
NM_025137.4(SPG11):c.2621-8T>C
|
rs771974720
|
0.00004
|
|
NM_025137.4(SPG11):c.2764G>A (p.Val922Ile)
|
rs139399250
|
0.00004
|
|
NM_025137.4(SPG11):c.2875T>C (p.Cys959Arg)
|
rs375859622
|
0.00004
|
|
NM_025137.4(SPG11):c.2903G>C (p.Gly968Ala)
|
rs769129678
|
0.00004
|
|
NM_025137.4(SPG11):c.3189T>G (p.Ile1063Met)
|
rs1196874771
|
0.00004
|
|
NM_025137.4(SPG11):c.3292-7T>C
|
rs1595876068
|
0.00004
|
|
NM_025137.4(SPG11):c.3343C>T (p.Leu1115=)
|
rs374565265
|
0.00004
|
|
NM_025137.4(SPG11):c.3514A>G (p.Ile1172Val)
|
rs151299495
|
0.00004
|
|
NM_025137.4(SPG11):c.3584A>G (p.Glu1195Gly)
|
rs775875753
|
0.00004
|
|
NM_025137.4(SPG11):c.3664_3665insT (p.Lys1222fs)
|
rs312262755
|
0.00004
|
|
NM_025137.4(SPG11):c.36C>T (p.Ser12=)
|
rs368656047
|
0.00004
|
|
NM_025137.4(SPG11):c.381A>G (p.Ala127=)
|
rs369234511
|
0.00004
|
|
NM_025137.4(SPG11):c.3848G>A (p.Cys1283Tyr)
|
rs745718551
|
0.00004
|
|
NM_025137.4(SPG11):c.3867G>A (p.Gln1289=)
|
rs940673994
|
0.00004
|
|
NM_025137.4(SPG11):c.4261G>A (p.Asp1421Asn)
|
rs191148548
|
0.00004
|
|
NM_025137.4(SPG11):c.445A>G (p.Ile149Val)
|
rs1482526173
|
0.00004
|
|
NM_025137.4(SPG11):c.4907-13C>G
|
rs778489486
|
0.00004
|
|
NM_025137.4(SPG11):c.5645T>C (p.Ile1882Thr)
|
rs760815236
|
0.00004
|
|
NM_025137.4(SPG11):c.5725G>A (p.Ala1909Thr)
|
rs140710297
|
0.00004
|
|
NM_025137.4(SPG11):c.6006+3A>G
|
rs201717063
|
0.00004
|
|
NM_025137.4(SPG11):c.6043G>A (p.Asp2015Asn)
|
rs771242219
|
0.00004
|
|
NM_025137.4(SPG11):c.6447C>A (p.His2149Gln)
|
rs373897153
|
0.00004
|
|
NM_025137.4(SPG11):c.6452C>G (p.Ala2151Gly)
|
rs763676031
|
0.00004
|
|
NM_025137.4(SPG11):c.6932_6933insGTT (p.Thr2311_Met2312insLeu)
|
rs747133152
|
0.00004
|
|
NM_025137.4(SPG11):c.6952C>T (p.Arg2318Cys)
|
rs377341108
|
0.00004
|
|
NM_025137.4(SPG11):c.6988C>T (p.Arg2330Trp)
|
rs775295729
|
0.00004
|
|
NM_025137.4(SPG11):c.70C>T (p.Arg24Trp)
|
rs745561381
|
0.00004
|
|
NM_025137.4(SPG11):c.7107G>T (p.Gln2369His)
|
rs551095608
|
0.00004
|
|
NM_025137.4(SPG11):c.7189A>C (p.Asn2397His)
|
rs779892720
|
0.00004
|
|
NM_025137.4(SPG11):c.7202T>C (p.Leu2401Ser)
|
rs139812925
|
0.00004
|
|
NM_025137.4(SPG11):c.78A>G (p.Leu26=)
|
rs753713965
|
0.00004
|
|
NM_031448.6(C19orf12):c.135G>A (p.Val45=)
|
rs370529654
|
0.00004
|
|
NM_031448.6(C19orf12):c.177G>A (p.Gly59=)
|
rs768063881
|
0.00004
|
|
NM_031448.6(C19orf12):c.249C>T (p.Ala83=)
|
rs762174442
|
0.00004
|
|
NM_031448.6(C19orf12):c.276C>T (p.Ala92=)
|
rs772027533
|
0.00004
|
|
NM_031448.6(C19orf12):c.309C>T (p.Asp103=)
|
rs755631346
|
0.00004
|
|
NM_031448.6(C19orf12):c.327G>A (p.Ala109=)
|
rs765448305
|
0.00004
|
|
NM_031448.6(C19orf12):c.376G>A (p.Val126Met)
|
rs779790146
|
0.00004
|
|
NM_144599.5(NIPA1):c.*138G>A
|
rs544582872
|
0.00004
|
|
NM_144599.5(NIPA1):c.*2015G>C
|
rs886051000
|
0.00004
|
|
NM_144599.5(NIPA1):c.*201A>G
|
rs536521096
|
0.00004
|
|
NM_144599.5(NIPA1):c.*3703T>G
|
rs775279166
|
0.00004
|
|
NM_144599.5(NIPA1):c.*57G>A
|
rs886051006
|
0.00004
|
|
NM_144599.5(NIPA1):c.109G>A (p.Val37Met)
|
rs772029587
|
0.00004
|
|
NM_144599.5(NIPA1):c.864G>T (p.Leu288=)
|
rs748735198
|
0.00004
|
|
NM_144599.5(NIPA1):c.90C>G (p.Leu30=)
|
rs776212895
|
0.00004
|
|
NM_152415.3(VPS37A):c.420A>G (p.Leu140=)
|
rs752387958
|
0.00004
|
|
NM_152415.3(VPS37A):c.787A>C (p.Lys263Gln)
|
rs199781923
|
0.00004
|
|
NM_152415.3(VPS37A):c.892T>A (p.Leu298Ile)
|
rs750264592
|
0.00004
|
|
NM_152415.3(VPS37A):c.901-9C>G
|
rs368005823
|
0.00004
|
|
NM_000277.3(PAH):c.1157A>G (p.Tyr386Cys)
|
rs62516141
|
0.00003
|
|
NM_001010867.4(IBA57):c.304G>C (p.Val102Leu)
|
rs753218907
|
0.00003
|
|
NM_001010867.4(IBA57):c.305T>G (p.Val102Gly)
|
rs759005478
|
0.00003
|
|
NM_001010867.4(IBA57):c.316A>G (p.Thr106Ala)
|
rs1053773776
|
0.00003
|
|
NM_001010867.4(IBA57):c.316del (p.Thr106fs)
|
rs757794637
|
0.00003
|
|
NM_001010867.4(IBA57):c.837C>T (p.Leu279=)
|
rs756776278
|
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.532C>G (p.Leu178Val)
|
rs760613992
|
0.00003
|
|
NM_001122955.4(BSCL2):c.773C>T (p.Pro258Leu)
|
rs769219167
|
0.00003
|
|
NM_001160148.2(DDHD1):c.1012+647A>C
|
rs746698403
|
0.00003
|
|
NM_001160148.2(DDHD1):c.1529T>C (p.Leu510Pro)
|
rs755632915
|
0.00003
|
|
NM_001160148.2(DDHD1):c.1535G>A (p.Arg512Gln)
|
rs146473667
|
0.00003
|
|
NM_001160148.2(DDHD1):c.1754dup (p.Thr586fs)
|
rs760208786
|
0.00003
|
|
NM_001160148.2(DDHD1):c.1895G>A (p.Arg632His)
|
rs749263468
|
0.00003
|
|
NM_001160148.2(DDHD1):c.2399C>T (p.Thr800Ile)
|
rs769191532
|
0.00003
|
|
NM_001160148.2(DDHD1):c.2654A>G (p.Tyr885Cys)
|
rs141960546
|
0.00003
|
|
NM_001160148.2(DDHD1):c.378C>G (p.Val126=)
|
rs773329550
|
0.00003
|
|
NM_001160148.2(DDHD1):c.438C>G (p.Thr146=)
|
rs748129023
|
0.00003
|
|
NM_001166114.2(PNPLA6):c.1088G>A (p.Ser363Asn)
|
rs756600765
|
0.00003
|
|
NM_001166114.2(PNPLA6):c.1392G>A (p.Pro464=)
|
rs927302241
|
0.00003
|
|
NM_001166114.2(PNPLA6):c.1529A>T (p.Glu510Val)
|
rs1017141420
|
0.00003
|
|
NM_001166114.2(PNPLA6):c.1594C>T (p.Arg532Cys)
|
rs745665473
|
0.00003
|
|
NM_001166114.2(PNPLA6):c.1962C>T (p.Ser654=)
|
rs757870828
|
0.00003
|
|
NM_001166114.2(PNPLA6):c.2067C>A (p.Gly689=)
|
rs773178139
|
0.00003
|
|
NM_001166114.2(PNPLA6):c.2181G>A (p.Pro727=)
|
rs1409850827
|
0.00003
|
|
NM_001166114.2(PNPLA6):c.2185-15C>T
|
rs780822241
|
0.00003
|
|
NM_001166114.2(PNPLA6):c.2256C>A (p.Phe752Leu)
|
rs773741175
|
0.00003
|
|
NM_001166114.2(PNPLA6):c.2260+10G>A
|
rs763465479
|
0.00003
|
|
NM_001166114.2(PNPLA6):c.232+14G>A
|
rs199727584
|
0.00003
|
|
NM_001166114.2(PNPLA6):c.2408C>T (p.Thr803Met)
|
rs374789348
|
0.00003
|
|
NM_001166114.2(PNPLA6):c.2952C>T (p.Ile984=)
|
rs767654280
|
0.00003
|
|
NM_001166114.2(PNPLA6):c.3095G>C (p.Ser1032Thr)
|
rs377449787
|
0.00003
|
|
NM_001166114.2(PNPLA6):c.3281-4G>A
|
rs555997335
|
0.00003
|
|
NM_001166114.2(PNPLA6):c.3336G>T (p.Pro1112=)
|
rs570723263
|
0.00003
|
|
NM_001166114.2(PNPLA6):c.3397+11G>T
|
rs370597983
|
0.00003
|
|
NM_001166114.2(PNPLA6):c.3398-11del
|
rs1409345995
|
0.00003
|
|
NM_001166114.2(PNPLA6):c.3409C>T (p.Arg1137Cys)
|
rs587777854
|
0.00003
|
|
NM_001166114.2(PNPLA6):c.3654C>T (p.Ile1218=)
|
rs377515453
|
0.00003
|
|
NM_001166114.2(PNPLA6):c.3655G>A (p.Asp1219Asn)
|
rs370060935
|
0.00003
|
|
NM_001166114.2(PNPLA6):c.372A>G (p.Pro124=)
|
rs772823305
|
0.00003
|
|
NM_001166114.2(PNPLA6):c.3884C>T (p.Thr1295Met)
|
rs758549829
|
0.00003
|
|
NM_001166114.2(PNPLA6):c.3914-9C>T
|
rs200579809
|
0.00003
|
|
NM_001166114.2(PNPLA6):c.3990C>T (p.Pro1330=)
|
rs535388759
|
0.00003
|
|
NM_001166114.2(PNPLA6):c.549C>T (p.Asn183=)
|
rs778438044
|
0.00003
|
|
NM_001166114.2(PNPLA6):c.924+15G>A
|
rs1167944518
|
0.00003
|
|
NM_001199753.2(CPT1C):c.1112C>T (p.Pro371Leu)
|
rs200075170
|
0.00003
|
|
NM_001199753.2(CPT1C):c.1384G>A (p.Gly462Arg)
|
rs577177807
|
0.00003
|
|
NM_001199753.2(CPT1C):c.1818G>A (p.Thr606=)
|
rs371409075
|
0.00003
|
|
NM_001199753.2(CPT1C):c.2004G>A (p.Ser668=)
|
rs140549893
|
0.00003
|
|
NM_001199753.2(CPT1C):c.2129G>T (p.Gly710Val)
|
rs772819135
|
0.00003
|
|
NM_001244008.2(KIF1A):c.*1662G>A
|
rs916134088
|
0.00003
|
|
NM_001244008.2(KIF1A):c.*23C>A
|
rs531276835
|
0.00003
|
|
NM_001244008.2(KIF1A):c.1064G>A (p.Arg355His)
|
rs373042822
|
0.00003
|
|
NM_001244008.2(KIF1A):c.1245G>A (p.Ser415=)
|
rs770282705
|
0.00003
|
|
NM_001244008.2(KIF1A):c.1317C>T (p.Ser439=)
|
rs527590782
|
0.00003
|
|
NM_001244008.2(KIF1A):c.1342-4C>A
|
rs745742289
|
0.00003
|
|
NM_001244008.2(KIF1A):c.1509C>T (p.Leu503=)
|
rs768926122
|
0.00003
|
|
NM_001244008.2(KIF1A):c.1578-5C>T
|
rs779796603
|
0.00003
|
|
NM_001244008.2(KIF1A):c.1597G>A (p.Glu533Lys)
|
rs764182180
|
0.00003
|
|
NM_001244008.2(KIF1A):c.1657C>T (p.Arg553Trp)
|
rs369141291
|
0.00003
|
|
NM_001244008.2(KIF1A):c.1768+12G>A
|
rs1234222108
|
0.00003
|
|
NM_001244008.2(KIF1A):c.1768+19G>A
|
rs1435141768
|
0.00003
|
|
NM_001244008.2(KIF1A):c.183+12C>T
|
rs1238594515
|
0.00003
|
|
NM_001244008.2(KIF1A):c.1836G>A (p.Glu612=)
|
rs879254322
|
0.00003
|
|
NM_001244008.2(KIF1A):c.1949+19C>G
|
rs758914324
|
0.00003
|
|
NM_001244008.2(KIF1A):c.207G>A (p.Ser69=)
|
rs775973976
|
0.00003
|
|
NM_001244008.2(KIF1A):c.2340C>T (p.Ala780=)
|
rs990063618
|
0.00003
|
|
NM_001244008.2(KIF1A):c.2409C>T (p.Asn803=)
|
rs746800505
|
0.00003
|
|
NM_001244008.2(KIF1A):c.2445-11C>G
|
rs759214934
|
0.00003
|
|
NM_001244008.2(KIF1A):c.2582+10T>C
|
rs202002144
|
0.00003
|
|
NM_001244008.2(KIF1A):c.2798C>T (p.Ala933Val)
|
rs760841799
|
0.00003
|
|
NM_001244008.2(KIF1A):c.3329C>T (p.Ala1110Val)
|
rs1236829353
|
0.00003
|
|
NM_001244008.2(KIF1A):c.3456C>T (p.His1152=)
|
rs375266480
|
0.00003
|
|
NM_001244008.2(KIF1A):c.3466-12C>T
|
rs745956020
|
0.00003
|
|
NM_001244008.2(KIF1A):c.3555G>A (p.Pro1185=)
|
rs772708805
|
0.00003
|
|
NM_001244008.2(KIF1A):c.3584+11T>C
|
rs376563968
|
0.00003
|
|
NM_001244008.2(KIF1A):c.3600G>A (p.Ser1200=)
|
rs762545111
|
0.00003
|
|
NM_001244008.2(KIF1A):c.3617G>A (p.Arg1206Gln)
|
rs369849214
|
0.00003
|
|
NM_001244008.2(KIF1A):c.3703G>A (p.Asp1235Asn)
|
rs200257048
|
0.00003
|
|
NM_001244008.2(KIF1A):c.3759G>A (p.Pro1253=)
|
rs777751073
|
0.00003
|
|
NM_001244008.2(KIF1A):c.3762C>T (p.Ala1254=)
|
rs758470895
|
0.00003
|
|
NM_001244008.2(KIF1A):c.3887G>A (p.Arg1296His)
|
rs371517661
|
0.00003
|
|
NM_001244008.2(KIF1A):c.4007+8G>A
|
rs374380397
|
0.00003
|
|
NM_001244008.2(KIF1A):c.4122+20G>A
|
rs376365164
|
0.00003
|
|
NM_001244008.2(KIF1A):c.4176C>T (p.Phe1392=)
|
rs754203456
|
0.00003
|
|
NM_001244008.2(KIF1A):c.420C>T (p.Tyr140=)
|
rs1300729090
|
0.00003
|
|
NM_001244008.2(KIF1A):c.4244G>A (p.Arg1415Gln)
|
rs761203966
|
0.00003
|
|
NM_001244008.2(KIF1A):c.4530G>A (p.Pro1510=)
|
rs767349300
|
0.00003
|
|
NM_001244008.2(KIF1A):c.4584C>T (p.Ser1528=)
|
rs747267404
|
0.00003
|
|
NM_001244008.2(KIF1A):c.4599C>G (p.Leu1533=)
|
rs755599142
|
0.00003
|
|
NM_001244008.2(KIF1A):c.4637A>G (p.Asn1546Ser)
|
rs776993663
|
0.00003
|
|
NM_001244008.2(KIF1A):c.4669T>C (p.Leu1557=)
|
rs774851890
|
0.00003
|
|
NM_001244008.2(KIF1A):c.4717G>A (p.Val1573Ile)
|
rs1401684116
|
0.00003
|
|
NM_001244008.2(KIF1A):c.4744-13C>G
|
rs199938682
|
0.00003
|
|
NM_001244008.2(KIF1A):c.4868+12C>T
|
rs779386379
|
0.00003
|
|
NM_001244008.2(KIF1A):c.4977G>T (p.Glu1659Asp)
|
rs992259915
|
0.00003
|
|
NM_001244008.2(KIF1A):c.4984C>T (p.Arg1662Cys)
|
rs372226807
|
0.00003
|
|
NM_001244008.2(KIF1A):c.5250C>T (p.Arg1750=)
|
rs753129112
|
0.00003
|
|
NM_001244008.2(KIF1A):c.5334-4G>A
|
rs758806789
|
0.00003
|
|
NM_001244008.2(KIF1A):c.699G>C (p.Glu233Asp)
|
rs373882732
|
0.00003
|
|
NM_001244008.2(KIF1A):c.6C>T (p.Ala2=)
|
rs371266160
|
0.00003
|
|
NM_001244008.2(KIF1A):c.804G>T (p.Gly268=)
|
rs771502419
|
0.00003
|
|
NM_001244008.2(KIF1A):c.870C>T (p.Ser290=)
|
rs781227878
|
0.00003
|
|
NM_001253852.3(AP4B1):c.1044G>A (p.Val348=)
|
rs763730264
|
0.00003
|
|
NM_001253852.3(AP4B1):c.1082C>T (p.Ala361Val)
|
rs143389123
|
0.00003
|
|
NM_001253852.3(AP4B1):c.114-9G>A
|
rs186195199
|
0.00003
|
|
NM_001253852.3(AP4B1):c.1217G>A (p.Arg406Gln)
|
rs145803736
|
0.00003
|
|
NM_001253852.3(AP4B1):c.1507A>G (p.Ile503Val)
|
rs1230787334
|
0.00003
|
|
NM_001253852.3(AP4B1):c.1643C>T (p.Pro548Leu)
|
rs149723440
|
0.00003
|
|
NM_001253852.3(AP4B1):c.2150C>T (p.Thr717Met)
|
rs199879996
|
0.00003
|
|
NM_001253852.3(AP4B1):c.304C>T (p.Arg102Ter)
|
rs777248758
|
0.00003
|
|
NM_001253852.3(AP4B1):c.319C>T (p.Arg107Trp)
|
rs74361335
|
0.00003
|
|
NM_001253852.3(AP4B1):c.323G>A (p.Ser108Asn)
|
rs1157647320
|
0.00003
|
|
NM_001253852.3(AP4B1):c.388C>T (p.Arg130Trp)
|
rs550100552
|
0.00003
|
|
NM_001253852.3(AP4B1):c.49C>T (p.Leu17=)
|
rs748774784
|
0.00003
|
|
NM_001271803.2(REEP2):c.479G>A (p.Arg160Gln)
|
rs1312330798
|
0.00003
|
|
NM_001278116.2(L1CAM):c.385C>T (p.Arg129Trp)
|
rs201978087
|
0.00003
|
|
NM_001351169.2(NT5C2):c.1056C>T (p.His352=)
|
rs757640692
|
0.00003
|
|
NM_001351169.2(NT5C2):c.1528A>C (p.Thr510Pro)
|
rs766540908
|
0.00003
|
|
NM_001351169.2(NT5C2):c.481+8C>T
|
rs773212797
|
0.00003
|
|
NM_001368809.2(AMPD2):c.-13C>T
|
rs759860840
|
0.00003
|
|
NM_001368809.2(AMPD2):c.-149G>A
|
rs773946980
|
0.00003
|
|
NM_001368809.2(AMPD2):c.-19C>T
|
rs771607197
|
0.00003
|
|
NM_001368809.2(AMPD2):c.-52C>G
|
rs570541266
|
0.00003
|
|
NM_001368809.2(AMPD2):c.-67T>C
|
rs745646206
|
0.00003
|
|
NM_001368809.2(AMPD2):c.1328T>C (p.Ile443Thr)
|
rs149171366
|
0.00003
|
|
NM_001368809.2(AMPD2):c.1519C>T (p.His507Tyr)
|
rs374652371
|
0.00003
|
|
NM_001368809.2(AMPD2):c.1522C>T (p.Arg508Cys)
|
rs146798795
|
0.00003
|
|
NM_001368809.2(AMPD2):c.178G>A (p.Asp60Asn)
|
rs754712604
|
0.00003
|
|
NM_001368809.2(AMPD2):c.1895C>T (p.Pro632Leu)
|
rs746845817
|
0.00003
|
|
NM_001368809.2(AMPD2):c.2184C>T (p.Ile728=)
|
rs367822022
|
0.00003
|
|
NM_001368809.2(AMPD2):c.353+9G>A
|
rs371094107
|
0.00003
|
|
NM_001368809.2(AMPD2):c.433G>C (p.Glu145Gln)
|
rs753757082
|
0.00003
|
|
NM_001368809.2(AMPD2):c.579G>A (p.Ala193=)
|
rs183170041
|
0.00003
|
|
NM_001371279.1(REEP1):c.*2967C>G
|
rs1351975670
|
0.00003
|
|
NM_001371279.1(REEP1):c.182+20G>A
|
rs367979322
|
0.00003
|
|
NM_001371279.1(REEP1):c.240C>T (p.Tyr80=)
|
rs757562400
|
0.00003
|
|
NM_001371279.1(REEP1):c.304-9C>G
|
rs771485330
|
0.00003
|
|
NM_001371279.1(REEP1):c.345C>T (p.Tyr115=)
|
rs138656911
|
0.00003
|
|
NM_001371279.1(REEP1):c.371G>A (p.Arg124Gln)
|
rs757087677
|
0.00003
|
|
NM_001371279.1(REEP1):c.418-13G>A
|
rs548141046
|
0.00003
|
|
NM_001371279.1(REEP1):c.418-20C>T
|
rs762395492
|
0.00003
|
|
NM_001371279.1(REEP1):c.808C>T (p.Arg270Cys)
|
rs375445585
|
0.00003
|
|
NM_001385875.1(ZFYVE27):c.*1074C>G
|
rs543023183
|
0.00003
|
|
NM_001385875.1(ZFYVE27):c.*52C>A
|
rs760481213
|
0.00003
|
|
NM_001385875.1(ZFYVE27):c.1052C>T (p.Thr351Met)
|
rs368842487
|
0.00003
|
|
NM_001776.6(ENTPD1):c.1254C>T (p.Tyr418=)
|
rs759450413
|
0.00003
|
|
NM_001776.6(ENTPD1):c.376G>A (p.Val126Ile)
|
rs149992374
|
0.00003
|
|
NM_001776.6(ENTPD1):c.39C>T (p.Cys13=)
|
rs766814208
|
0.00003
|
|
NM_002156.5(HSPD1):c.*384T>A
|
rs544314251
|
0.00003
|
|
NM_002156.5(HSPD1):c.175-8T>C
|
rs772029212
|
0.00003
|
|
NM_002361.4(MAG):c.1059G>A (p.Pro353=)
|
rs201926268
|
0.00003
|
|
NM_002361.4(MAG):c.1468G>A (p.Ala490Thr)
|
rs202083530
|
0.00003
|
|
NM_002361.4(MAG):c.1688G>A (p.Arg563His)
|
rs138056630
|
0.00003
|
|
NM_002361.4(MAG):c.1815G>A (p.Arg605=)
|
rs772194872
|
0.00003
|
|
NM_002361.4(MAG):c.646G>T (p.Gly216Cys)
|
rs200984385
|
0.00003
|
|
NM_002361.4(MAG):c.688G>A (p.Gly230Ser)
|
rs765954040
|
0.00003
|
|
NM_002860.4(ALDH18A1):c.1027A>G (p.Ile343Val)
|
rs371294018
|
0.00003
|
|
NM_002860.4(ALDH18A1):c.1110G>A (p.Ala370=)
|
rs558532112
|
0.00003
|
|
NM_002860.4(ALDH18A1):c.1172A>G (p.His391Arg)
|
rs774081826
|
0.00003
|
|
NM_002860.4(ALDH18A1):c.1190C>T (p.Thr397Met)
|
rs769823561
|
0.00003
|
|
NM_002860.4(ALDH18A1):c.122G>A (p.Arg41His)
|
rs192921117
|
0.00003
|
|
NM_002860.4(ALDH18A1):c.1237G>A (p.Glu413Lys)
|
rs147348068
|
0.00003
|
|
NM_002860.4(ALDH18A1):c.1380C>T (p.Ile460=)
|
rs770247123
|
0.00003
|
|
NM_002860.4(ALDH18A1):c.1417A>G (p.Ile473Val)
|
rs373239891
|
0.00003
|
|
NM_002860.4(ALDH18A1):c.1467+15C>T
|
rs374652686
|
0.00003
|
|
NM_002860.4(ALDH18A1):c.1540C>T (p.Arg514Trp)
|
rs770442555
|
0.00003
|
|
NM_002860.4(ALDH18A1):c.2040C>T (p.Asn680=)
|
rs145806693
|
0.00003
|
|
NM_002860.4(ALDH18A1):c.2121G>A (p.Ala707=)
|
rs753837028
|
0.00003
|
|
NM_002860.4(ALDH18A1):c.2176C>T (p.Arg726Cys)
|
rs202169492
|
0.00003
|
|
NM_002860.4(ALDH18A1):c.2383A>G (p.Asn795Asp)
|
rs747918055
|
0.00003
|
|
NM_002860.4(ALDH18A1):c.709G>C (p.Gly237Arg)
|
rs201841420
|
0.00003
|
|
NM_002860.4(ALDH18A1):c.933+14G>A
|
rs546156675
|
0.00003
|
|
NM_002860.4(ALDH18A1):c.948C>T (p.Leu316=)
|
rs769800738
|
0.00003
|
|
NM_003119.4(SPG7):c.1151-8C>T
|
rs200402056
|
0.00003
|
|
NM_003119.4(SPG7):c.1305G>T (p.Gln435His)
|
rs559906913
|
0.00003
|
|
NM_003119.4(SPG7):c.1324+4273G>T
|
rs142373545
|
0.00003
|
|
NM_003119.4(SPG7):c.144T>G (p.Pro48=)
|
rs1286342932
|
0.00003
|
|
NM_003119.4(SPG7):c.1552+16G>T
|
rs746083152
|
0.00003
|
|
NM_003119.4(SPG7):c.1552+1G>T
|
rs141644720
|
0.00003
|
|
NM_003119.4(SPG7):c.1553-2A>G
|
rs1229749476
|
0.00003
|
|
NM_003119.4(SPG7):c.1553-2_1553-1del
|
rs772828460
|
0.00003
|
|
NM_003119.4(SPG7):c.1626T>A (p.Thr542=)
|
rs781398870
|
0.00003
|
|
NM_003119.4(SPG7):c.182A>G (p.Gln61Arg)
|
rs1306012072
|
0.00003
|
|
NM_003119.4(SPG7):c.1936+18G>A
|
rs75437341
|
0.00003
|
|
NM_003119.4(SPG7):c.2191G>A (p.Ala731Thr)
|
rs747521455
|
0.00003
|
|
NM_003119.4(SPG7):c.2247G>A (p.Pro749=)
|
rs757358666
|
0.00003
|
|
NM_003119.4(SPG7):c.377-8C>T
|
rs373168400
|
0.00003
|
|
NM_003119.4(SPG7):c.568G>A (p.Asp190Asn)
|
rs765532928
|
0.00003
|
|
NM_003119.4(SPG7):c.619-4C>G
|
rs754935334
|
0.00003
|
|
NM_003119.4(SPG7):c.637C>T (p.Arg213Ter)
|
rs774774648
|
0.00003
|
|
NM_003119.4(SPG7):c.663G>A (p.Lys221=)
|
rs575421836
|
0.00003
|
|
NM_003119.4(SPG7):c.734A>G (p.Tyr245Cys)
|
rs771172268
|
0.00003
|
|
NM_003119.4(SPG7):c.759-6C>T
|
rs568452581
|
0.00003
|
|
NM_003119.4(SPG7):c.878C>T (p.Ala293Val)
|
rs201723702
|
0.00003
|
|
NM_003119.4(SPG7):c.993A>G (p.Pro331=)
|
rs377211352
|
0.00003
|
|
NM_004722.4(AP4M1):c.1294G>A (p.Gly432Ser)
|
rs751435731
|
0.00003
|
|
NM_004722.4(AP4M1):c.12A>G (p.Gln4=)
|
rs568292146
|
0.00003
|
|
NM_004722.4(AP4M1):c.1320dup (p.Arg441fs)
|
rs1437455190
|
0.00003
|
|
NM_004722.4(AP4M1):c.136C>G (p.Pro46Ala)
|
rs757747386
|
0.00003
|
|
NM_004722.4(AP4M1):c.351+9C>G
|
rs745857202
|
0.00003
|
|
NM_004722.4(AP4M1):c.453C>T (p.Ser151=)
|
rs1388187930
|
0.00003
|
|
NM_004722.4(AP4M1):c.607-12C>T
|
rs1375819668
|
0.00003
|
|
NM_004722.4(AP4M1):c.637G>C (p.Glu213Gln)
|
rs373833370
|
0.00003
|
|
NM_004722.4(AP4M1):c.673+7C>T
|
rs753446678
|
0.00003
|
|
NM_004722.4(AP4M1):c.889C>T (p.Arg297Trp)
|
rs199982051
|
0.00003
|
|
NM_004820.5(CYP7B1):c.349A>G (p.Lys117Glu)
|
rs368626966
|
0.00003
|
|
NM_004820.5(CYP7B1):c.889A>G (p.Thr297Ala)
|
rs587777222
|
0.00003
|
|
NM_004984.4(KIF5A):c.1866C>T (p.Thr622=)
|
rs144382702
|
0.00003
|
|
NM_005154.5(USP8):c.2320C>G (p.Pro774Ala)
|
rs371064052
|
0.00003
|
|
NM_005154.5(USP8):c.775C>A (p.Leu259Ile)
|
rs772655890
|
0.00003
|
|
NM_005186.4(CAPN1):c.618_619del (p.Gly208fs)
|
rs778722037
|
0.00003
|
|
NM_006070.6(TFG):c.1154G>A (p.Arg385His)
|
rs373719892
|
0.00003
|
|
NM_006070.6(TFG):c.171G>A (p.Lys57=)
|
rs201326908
|
0.00003
|
|
NM_006070.6(TFG):c.177A>G (p.Lys59=)
|
rs766483726
|
0.00003
|
|
NM_006070.6(TFG):c.337C>A (p.Arg113=)
|
rs764959531
|
0.00003
|
|
NM_006070.6(TFG):c.438A>G (p.Glu146=)
|
rs1258206651
|
0.00003
|
|
NM_006070.6(TFG):c.882A>C (p.Gln294His)
|
rs751393611
|
0.00003
|
|
NM_006459.4(ERLIN1):c.1037G>A (p.Ser346Asn)
|
rs369725736
|
0.00003
|
|
NM_006459.4(ERLIN1):c.430+16C>G
|
rs1240077501
|
0.00003
|
|
NM_006459.4(ERLIN1):c.741C>T (p.Ile247=)
|
rs543960752
|
0.00003
|
|
NM_006459.4(ERLIN1):c.773C>T (p.Ala258Val)
|
rs763392279
|
0.00003
|
|
NM_006459.4(ERLIN1):c.856A>C (p.Lys286Gln)
|
rs774243081
|
0.00003
|
|
NM_006612.6(KIF1C):c.1261G>C (p.Gly421Arg)
|
rs1259655283
|
0.00003
|
|
NM_006612.6(KIF1C):c.1284C>A (p.Ser428=)
|
rs758493561
|
0.00003
|
|
NM_006612.6(KIF1C):c.1336-8G>A
|
rs778681188
|
0.00003
|
|
NM_006612.6(KIF1C):c.14C>T (p.Ser5Leu)
|
rs747424547
|
0.00003
|
|
NM_006612.6(KIF1C):c.2377G>A (p.Gly793Arg)
|
rs1393424251
|
0.00003
|
|
NM_006612.6(KIF1C):c.2522C>T (p.Thr841Met)
|
rs780729030
|
0.00003
|
|
NM_006612.6(KIF1C):c.2567G>A (p.Arg856Gln)
|
rs372705324
|
0.00003
|
|
NM_006612.6(KIF1C):c.2999C>T (p.Pro1000Leu)
|
rs267604960
|
0.00003
|
|
NM_006612.6(KIF1C):c.3062C>T (p.Pro1021Leu)
|
rs369620316
|
0.00003
|
|
NM_006612.6(KIF1C):c.3121C>T (p.Arg1041Trp)
|
rs200388087
|
0.00003
|
|
NM_006612.6(KIF1C):c.3234C>T (p.Tyr1078=)
|
rs771822956
|
0.00003
|
|
NM_006612.6(KIF1C):c.352A>C (p.Ile118Leu)
|
rs757847238
|
0.00003
|
|
NM_006612.6(KIF1C):c.899A>T (p.Tyr300Phe)
|
rs760721111
|
0.00003
|
|
NM_006702.5(PNPLA6):c.10C>T (p.Pro4Ser)
|
rs759671675
|
0.00003
|
|
NM_007347.5(AP4E1):c.3277C>G (p.Gln1093Glu)
|
rs773929706
|
0.00003
|
|
NM_012073.5(CCT5):c.*345T>C
|
rs886059757
|
0.00003
|
|
NM_012073.5(CCT5):c.*420T>C
|
rs755661384
|
0.00003
|
|
NM_012073.5(CCT5):c.106-6C>T
|
rs201641048
|
0.00003
|
|
NM_012073.5(CCT5):c.1072C>T (p.Leu358Phe)
|
rs777440322
|
0.00003
|
|
NM_012073.5(CCT5):c.1324A>G (p.Thr442Ala)
|
rs759193876
|
0.00003
|
|
NM_012073.5(CCT5):c.1499-14C>A
|
rs772511157
|
0.00003
|
|
NM_012073.5(CCT5):c.1499-20A>G
|
rs746431065
|
0.00003
|
|
NM_012073.5(CCT5):c.36T>C (p.Tyr12=)
|
rs111848991
|
0.00003
|
|
NM_012073.5(CCT5):c.648C>G (p.Gly216=)
|
rs754143874
|
0.00003
|
|
NM_013964.5(NRG1):c.332T>C (p.Met111Thr)
|
rs777137810
|
0.00003
|
|
NM_014363.6(SACS):c.1941G>T (p.Lys647Asn)
|
rs201021919
|
0.00003
|
|
NM_014844.5(TECPR2):c.1203C>T (p.Ser401=)
|
rs759378757
|
0.00003
|
|
NM_014844.5(TECPR2):c.1236G>A (p.Ser412=)
|
rs756426693
|
0.00003
|
|
NM_014844.5(TECPR2):c.1458G>A (p.Ser486=)
|
rs775531821
|
0.00003
|
|
NM_014844.5(TECPR2):c.1638G>A (p.Thr546=)
|
rs768273816
|
0.00003
|
|
NM_014844.5(TECPR2):c.1803G>A (p.Pro601=)
|
rs779281934
|
0.00003
|
|
NM_014844.5(TECPR2):c.2199C>T (p.Ala733=)
|
rs761750187
|
0.00003
|
|
NM_014844.5(TECPR2):c.228G>A (p.Thr76=)
|
rs750030334
|
0.00003
|
|
NM_014844.5(TECPR2):c.2491G>T (p.Gly831Cys)
|
rs201352197
|
0.00003
|
|
NM_014844.5(TECPR2):c.2528G>T (p.Arg843Leu)
|
rs765981384
|
0.00003
|
|
NM_014844.5(TECPR2):c.2625T>C (p.Ala875=)
|
rs779230418
|
0.00003
|
|
NM_014844.5(TECPR2):c.2752+7G>A
|
rs769247131
|
0.00003
|
|
NM_014844.5(TECPR2):c.2752+8C>T
|
rs774960200
|
0.00003
|
|
NM_014844.5(TECPR2):c.2752+9G>A
|
rs753140257
|
0.00003
|
|
NM_014844.5(TECPR2):c.2967G>A (p.Thr989=)
|
rs1345090533
|
0.00003
|
|
NM_014844.5(TECPR2):c.3060C>T (p.Asp1020=)
|
rs143290546
|
0.00003
|
|
NM_014844.5(TECPR2):c.3204G>A (p.Ala1068=)
|
rs774882832
|
0.00003
|
|
NM_014844.5(TECPR2):c.3258C>T (p.Ser1086=)
|
rs765907877
|
0.00003
|
|
NM_014844.5(TECPR2):c.348+10C>T
|
rs766975160
|
0.00003
|
|
NM_014844.5(TECPR2):c.351T>G (p.Leu117=)
|
rs771585977
|
0.00003
|
|
NM_014844.5(TECPR2):c.3525C>T (p.Ala1175=)
|
rs559134152
|
0.00003
|
|
NM_014844.5(TECPR2):c.3640+10C>T
|
rs1029063500
|
0.00003
|
|
NM_014844.5(TECPR2):c.3804C>T (p.Ser1268=)
|
rs757365630
|
0.00003
|
|
NM_014844.5(TECPR2):c.4059C>T (p.Pro1353=)
|
rs1333017689
|
0.00003
|
|
NM_014844.5(TECPR2):c.45G>A (p.Pro15=)
|
rs371781829
|
0.00003
|
|
NM_014844.5(TECPR2):c.717G>A (p.Gly239=)
|
rs755693156
|
0.00003
|
|
NM_014844.5(TECPR2):c.95G>A (p.Arg32His)
|
rs767622790
|
0.00003
|
|
NM_014844.5(TECPR2):c.999G>A (p.Ser333=)
|
rs369972265
|
0.00003
|
|
NM_014846.4(WASHC5):c.*177A>C
|
rs553412034
|
0.00003
|
|
NM_014846.4(WASHC5):c.*190C>T
|
rs757307963
|
0.00003
|
|
NM_014846.4(WASHC5):c.-219G>C
|
rs886062658
|
0.00003
|
|
NM_014846.4(WASHC5):c.-253G>A
|
rs533362974
|
0.00003
|
|
NM_014846.4(WASHC5):c.1094G>C (p.Cys365Ser)
|
rs756457820
|
0.00003
|
|
NM_014846.4(WASHC5):c.1173C>A (p.Arg391=)
|
rs1344658074
|
0.00003
|
|
NM_014846.4(WASHC5):c.1642A>G (p.Met548Val)
|
rs138176168
|
0.00003
|
|
NM_014846.4(WASHC5):c.1779C>T (p.Leu593=)
|
rs147434450
|
0.00003
|
|
NM_014846.4(WASHC5):c.2327G>A (p.Arg776His)
|
rs750463169
|
0.00003
|
|
NM_014846.4(WASHC5):c.2426C>G (p.Pro809Arg)
|
rs747787888
|
0.00003
|
|
NM_014846.4(WASHC5):c.3201G>A (p.Pro1067=)
|
rs754759068
|
0.00003
|
|
NM_014846.4(WASHC5):c.3269G>A (p.Arg1090Gln)
|
rs762522662
|
0.00003
|
|
NM_014846.4(WASHC5):c.3282G>A (p.Gln1094=)
|
rs749478956
|
0.00003
|
|
NM_014846.4(WASHC5):c.777C>T (p.Tyr259=)
|
rs781517421
|
0.00003
|
|
NM_014855.3(AP5Z1):c.*2185C>T
|
rs886062364
|
0.00003
|
|
NM_014855.3(AP5Z1):c.*2243C>T
|
rs539348967
|
0.00003
|
|
NM_014855.3(AP5Z1):c.*820C>G
|
rs575429444
|
0.00003
|
|
NM_014855.3(AP5Z1):c.1190C>T (p.Pro397Leu)
|
rs759329689
|
0.00003
|
|
NM_014855.3(AP5Z1):c.1288T>G (p.Leu430Val)
|
rs769512279
|
0.00003
|
|
NM_014855.3(AP5Z1):c.1365G>A (p.Pro455=)
|
rs1274908825
|
0.00003
|
|
NM_014855.3(AP5Z1):c.1407G>A (p.Ala469=)
|
rs757042274
|
0.00003
|
|
NM_014855.3(AP5Z1):c.1455-12C>T
|
rs1038026978
|
0.00003
|
|
NM_014855.3(AP5Z1):c.1642C>T (p.Arg548Cys)
|
rs777692803
|
0.00003
|
|
NM_014855.3(AP5Z1):c.1645G>A (p.Val549Met)
|
rs536448969
|
0.00003
|
|
NM_014855.3(AP5Z1):c.164C>T (p.Thr55Met)
|
rs182694738
|
0.00003
|
|
NM_014855.3(AP5Z1):c.172A>G (p.Ser58Gly)
|
rs756631068
|
0.00003
|
|
NM_014855.3(AP5Z1):c.176G>A (p.Arg59Gln)
|
rs200423282
|
0.00003
|
|
NM_014855.3(AP5Z1):c.2194A>C (p.Ser732Arg)
|
rs201934980
|
0.00003
|
|
NM_014855.3(AP5Z1):c.219C>T (p.Leu73=)
|
rs560439547
|
0.00003
|
|
NM_014855.3(AP5Z1):c.2201C>T (p.Ala734Val)
|
rs200761076
|
0.00003
|
|
NM_014855.3(AP5Z1):c.328C>T (p.Arg110Trp)
|
rs761446953
|
0.00003
|
|
NM_014855.3(AP5Z1):c.352G>A (p.Val118Ile)
|
rs765261590
|
0.00003
|
|
NM_014855.3(AP5Z1):c.385G>T (p.Val129Phe)
|
rs369230277
|
0.00003
|
|
NM_014855.3(AP5Z1):c.497G>A (p.Gly166Asp)
|
rs374914983
|
0.00003
|
|
NM_014855.3(AP5Z1):c.511+6C>T
|
rs770095188
|
0.00003
|
|
NM_014855.3(AP5Z1):c.556T>C (p.Tyr186His)
|
rs1000589136
|
0.00003
|
|
NM_014855.3(AP5Z1):c.672G>A (p.Thr224=)
|
rs369755844
|
0.00003
|
|
NM_014855.3(AP5Z1):c.766G>A (p.Glu256Lys)
|
rs1254332461
|
0.00003
|
|
NM_014855.3(AP5Z1):c.790+6C>T
|
rs776469236
|
0.00003
|
|
NM_014855.3(AP5Z1):c.835G>A (p.Ala279Thr)
|
rs542054269
|
0.00003
|
|
NM_014855.3(AP5Z1):c.880C>T (p.Arg294Trp)
|
rs1196396832
|
0.00003
|
|
NM_014855.3(AP5Z1):c.948G>C (p.Gly316=)
|
rs769272823
|
0.00003
|
|
NM_014855.3(AP5Z1):c.984C>T (p.Ala328=)
|
rs763042987
|
0.00003
|
|
NM_015046.7(SETX):c.4423A>G (p.Ile1475Val)
|
rs376678876
|
0.00003
|
|
NM_015087.5(SPART):c.*1267C>T
|
rs967757427
|
0.00003
|
|
NM_015087.5(SPART):c.*1794A>G
|
rs886050132
|
0.00003
|
|
NM_015087.5(SPART):c.*715C>T
|
rs541775963
|
0.00003
|
|
NM_015087.5(SPART):c.*716G>A
|
rs574483995
|
0.00003
|
|
NM_015087.5(SPART):c.*734T>C
|
rs886050135
|
0.00003
|
|
NM_015087.5(SPART):c.1127A>G (p.Asn376Ser)
|
rs368305530
|
0.00003
|
|
NM_015087.5(SPART):c.1369C>T (p.Arg457Ter)
|
rs200373703
|
0.00003
|
|
NM_015087.5(SPART):c.1655T>G (p.Val552Gly)
|
rs202118286
|
0.00003
|
|
NM_015087.5(SPART):c.1964C>T (p.Thr655Met)
|
rs140800614
|
0.00003
|
|
NM_015161.3(ARL6IP1):c.29A>G (p.Asn10Ser)
|
rs200140310
|
0.00003
|
|
NM_015214.3(DDHD2):c.1009A>C (p.Arg337=)
|
rs778628163
|
0.00003
|
|
NM_015214.3(DDHD2):c.1627G>A (p.Val543Met)
|
rs746480457
|
0.00003
|
|
NM_015214.3(DDHD2):c.1752G>A (p.Met584Ile)
|
rs765137700
|
0.00003
|
|
NM_015214.3(DDHD2):c.2055-5T>C
|
rs777076814
|
0.00003
|
|
NM_015214.3(DDHD2):c.335G>A (p.Arg112Gln)
|
rs781089161
|
0.00003
|
|
NM_015214.3(DDHD2):c.849-20A>C
|
rs766574314
|
0.00003
|
|
NM_015346.4(ZFYVE26):c.*232G>T
|
rs74752112
|
0.00003
|
|
NM_015346.4(ZFYVE26):c.1435+8G>A
|
rs779576115
|
0.00003
|
|
NM_015346.4(ZFYVE26):c.2105G>A (p.Arg702His)
|
rs201339450
|
0.00003
|
|
NM_015346.4(ZFYVE26):c.249G>T (p.Leu83=)
|
rs199674363
|
0.00003
|
|
NM_015346.4(ZFYVE26):c.361G>A (p.Glu121Lys)
|
rs201229339
|
0.00003
|
|
NM_015346.4(ZFYVE26):c.3818C>T (p.Pro1273Leu)
|
rs755456204
|
0.00003
|
|
NM_015346.4(ZFYVE26):c.3820A>G (p.Ser1274Gly)
|
rs1348928561
|
0.00003
|
|
NM_015346.4(ZFYVE26):c.397G>A (p.Gly133Ser)
|
rs199505106
|
0.00003
|
|
NM_015346.4(ZFYVE26):c.4027A>G (p.Arg1343Gly)
|
rs777319379
|
0.00003
|
|
NM_015346.4(ZFYVE26):c.4312C>T (p.Arg1438Ter)
|
rs118204049
|
0.00003
|
|
NM_015346.4(ZFYVE26):c.5146G>A (p.Glu1716Lys)
|
rs529931011
|
0.00003
|
|
NM_015346.4(ZFYVE26):c.5494C>T (p.Arg1832Cys)
|
rs763540632
|
0.00003
|
|
NM_015346.4(ZFYVE26):c.5787G>T (p.Glu1929Asp)
|
rs534207383
|
0.00003
|
|
NM_015346.4(ZFYVE26):c.6419G>A (p.Arg2140Gln)
|
rs373855798
|
0.00003
|
|
NM_015346.4(ZFYVE26):c.6876A>G (p.Leu2292=)
|
rs773663147
|
0.00003
|
|
NM_015346.4(ZFYVE26):c.7317C>T (p.Asp2439=)
|
rs147321202
|
0.00003
|
|
NM_015915.5(ATL1):c.1274T>C (p.Ile425Thr)
|
rs753618344
|
0.00003
|
|
NM_015915.5(ATL1):c.1542G>A (p.Leu514=)
|
rs765171869
|
0.00003
|
|
NM_015915.5(ATL1):c.163C>T (p.Arg55Trp)
|
rs149901427
|
0.00003
|
|
NM_015915.5(ATL1):c.164G>A (p.Arg55Gln)
|
rs564832738
|
0.00003
|
|
NM_015915.5(ATL1):c.990+11C>T
|
rs750229341
|
0.00003
|
|
NM_016630.7(SPG21):c.*165C>T
|
rs1319264250
|
0.00003
|
|
NM_016630.7(SPG21):c.-174A>G
|
rs886051331
|
0.00003
|
|
NM_016630.7(SPG21):c.60A>G (p.Lys20=)
|
rs375609763
|
0.00003
|
|
NM_020435.4(GJC2):c.540G>A (p.Lys180=)
|
rs759727327
|
0.00003
|
|
NM_020738.4(KIDINS220):c.299G>A (p.Arg100His)
|
rs368435770
|
0.00003
|
|
NM_020919.4(ALS2):c.1048C>T (p.Arg350Trp)
|
rs769268310
|
0.00003
|
|
NM_020944.3(GBA2):c.1888C>T (p.Arg630Trp)
|
rs398123012
|
0.00003
|
|
NM_022089.4(ATP13A2):c.1104A>G (p.Thr368=)
|
rs762728165
|
0.00003
|
|
NM_022089.4(ATP13A2):c.1205C>T (p.Thr402Met)
|
rs763632781
|
0.00003
|
|
NM_022089.4(ATP13A2):c.1398C>T (p.Thr466=)
|
rs768482207
|
0.00003
|
|
NM_022089.4(ATP13A2):c.1634G>A (p.Arg545His)
|
rs200337290
|
0.00003
|
|
NM_022089.4(ATP13A2):c.1688G>A (p.Arg563Gln)
|
rs541385523
|
0.00003
|
|
NM_022089.4(ATP13A2):c.1895C>T (p.Ser632Leu)
|
rs376070950
|
0.00003
|
|
NM_022089.4(ATP13A2):c.1903C>T (p.Gln635Ter)
|
rs773246271
|
0.00003
|
|
NM_022089.4(ATP13A2):c.2190G>T (p.Pro730=)
|
rs148275181
|
0.00003
|
|
NM_022089.4(ATP13A2):c.2439C>T (p.Thr813=)
|
rs368244226
|
0.00003
|
|
NM_022089.4(ATP13A2):c.2478C>T (p.Ser826=)
|
rs147611385
|
0.00003
|
|
NM_022089.4(ATP13A2):c.2529+8C>T
|
rs771708290
|
0.00003
|
|
NM_022089.4(ATP13A2):c.265G>A (p.Val89Ile)
|
rs534590083
|
0.00003
|
|
NM_022089.4(ATP13A2):c.2681C>T (p.Ser894Leu)
|
rs376348581
|
0.00003
|
|
NM_022089.4(ATP13A2):c.2796C>T (p.Ser932=)
|
rs755542233
|
0.00003
|
|
NM_022089.4(ATP13A2):c.2978C>T (p.Pro993Leu)
|
rs146559160
|
0.00003
|
|
NM_022089.4(ATP13A2):c.3059A>G (p.Tyr1020Cys)
|
rs372182128
|
0.00003
|
|
NM_022089.4(ATP13A2):c.3235+10C>T
|
rs567315420
|
0.00003
|
|
NM_022089.4(ATP13A2):c.3360G>C (p.Leu1120=)
|
rs1170773460
|
0.00003
|
|
NM_022089.4(ATP13A2):c.3384C>T (p.Phe1128=)
|
rs373514205
|
0.00003
|
|
NM_022089.4(ATP13A2):c.3501C>T (p.Ala1167=)
|
rs781135190
|
0.00003
|
|
NM_022089.4(ATP13A2):c.42C>T (p.Thr14=)
|
rs371850140
|
0.00003
|
|
NM_022089.4(ATP13A2):c.431A>T (p.Asp144Val)
|
rs145031260
|
0.00003
|
|
NM_022089.4(ATP13A2):c.558-20C>T
|
rs749500132
|
0.00003
|
|
NM_022089.4(ATP13A2):c.574C>T (p.Arg192Cys)
|
rs372857244
|
0.00003
|
|
NM_024306.5(FA2H):c.*911C>A
|
rs886052284
|
0.00003
|
|
NM_024306.5(FA2H):c.1032G>C (p.Gln344His)
|
rs779374650
|
0.00003
|
|
NM_024306.5(FA2H):c.130C>T (p.Pro44Ser)
|
rs1268722908
|
0.00003
|
|
NM_024306.5(FA2H):c.133G>T (p.Gly45Trp)
|
rs1247665387
|
0.00003
|
|
NM_024306.5(FA2H):c.786+6C>T
|
rs746907255
|
0.00003
|
|
NM_024306.5(FA2H):c.905C>T (p.Ala302Val)
|
rs202048141
|
0.00003
|
|
NM_024306.5(FA2H):c.94C>G (p.Arg32Gly)
|
rs978032580
|
0.00003
|
|
NM_024306.5(FA2H):c.968C>T (p.Pro323Leu)
|
rs774131656
|
0.00003
|
|
NM_024989.4(PGAP1):c.1892A>G (p.Asp631Gly)
|
rs753763690
|
0.00003
|
|
NM_025137.4(SPG11):c.1030T>C (p.Ser344Pro)
|
rs1235556400
|
0.00003
|
|
NM_025137.4(SPG11):c.1131C>T (p.His377=)
|
rs148613119
|
0.00003
|
|
NM_025137.4(SPG11):c.1168G>A (p.Asp390Asn)
|
rs747798305
|
0.00003
|
|
NM_025137.4(SPG11):c.1273A>G (p.Ile425Val)
|
rs746799947
|
0.00003
|
|
NM_025137.4(SPG11):c.1286G>A (p.Cys429Tyr)
|
rs374650170
|
0.00003
|
|
NM_025137.4(SPG11):c.1494A>G (p.Gln498=)
|
rs760202776
|
0.00003
|
|
NM_025137.4(SPG11):c.171G>C (p.Leu57=)
|
rs752630233
|
0.00003
|
|
NM_025137.4(SPG11):c.1759T>C (p.Leu587=)
|
rs1438765066
|
0.00003
|
|
NM_025137.4(SPG11):c.1891+8T>A
|
rs370785527
|
0.00003
|
|
NM_025137.4(SPG11):c.1939A>G (p.Ile647Val)
|
rs375256495
|
0.00003
|
|
NM_025137.4(SPG11):c.1952G>A (p.Arg651Gln)
|
rs766733736
|
0.00003
|
|
NM_025137.4(SPG11):c.2003A>G (p.Tyr668Cys)
|
rs764762491
|
0.00003
|
|
NM_025137.4(SPG11):c.2067+9G>A
|
rs751899105
|
0.00003
|
|
NM_025137.4(SPG11):c.2146C>A (p.Gln716Lys)
|
rs312262737
|
0.00003
|
|
NM_025137.4(SPG11):c.226G>C (p.Gly76Arg)
|
rs944158756
|
0.00003
|
|
NM_025137.4(SPG11):c.2377G>A (p.Val793Met)
|
rs546601155
|
0.00003
|
|
NM_025137.4(SPG11):c.2445-19T>A
|
rs770685534
|
0.00003
|
|
NM_025137.4(SPG11):c.2556T>C (p.Asn852=)
|
rs754045563
|
0.00003
|
|
NM_025137.4(SPG11):c.2577A>G (p.Gln859=)
|
rs753130399
|
0.00003
|
|
NM_025137.4(SPG11):c.2739G>C (p.Gln913His)
|
rs1209247230
|
0.00003
|
|
NM_025137.4(SPG11):c.2834+1G>T
|
rs312262749
|
0.00003
|
|
NM_025137.4(SPG11):c.2834+20A>G
|
rs368325394
|
0.00003
|
|
NM_025137.4(SPG11):c.2917G>C (p.Asp973His)
|
rs746774397
|
0.00003
|
|
NM_025137.4(SPG11):c.3176C>T (p.Ala1059Val)
|
rs759301637
|
0.00003
|
|
NM_025137.4(SPG11):c.3178A>G (p.Asn1060Asp)
|
rs1567161567
|
0.00003
|
|
NM_025137.4(SPG11):c.3228A>G (p.Leu1076=)
|
rs375911466
|
0.00003
|
|
NM_025137.4(SPG11):c.3292-1G>T
|
rs201217015
|
0.00003
|
|
NM_025137.4(SPG11):c.3453+8A>G
|
rs1380778736
|
0.00003
|
|
NM_025137.4(SPG11):c.3551G>T (p.Ser1184Ile)
|
rs766403944
|
0.00003
|
|
NM_025137.4(SPG11):c.3611A>G (p.His1204Arg)
|
rs769221549
|
0.00003
|
|
NM_025137.4(SPG11):c.361A>C (p.Lys121Gln)
|
rs778960331
|
0.00003
|
|
NM_025137.4(SPG11):c.3749T>C (p.Ile1250Thr)
|
rs763244237
|
0.00003
|
|
NM_025137.4(SPG11):c.3894C>T (p.Ala1298=)
|
rs1352070054
|
0.00003
|
|
NM_025137.4(SPG11):c.4070T>C (p.Leu1357Pro)
|
rs367550468
|
0.00003
|
|
NM_025137.4(SPG11):c.4137A>G (p.Gln1379=)
|
rs748617459
|
0.00003
|
|
NM_025137.4(SPG11):c.4972C>T (p.His1658Tyr)
|
rs775877332
|
0.00003
|
|
NM_025137.4(SPG11):c.4997T>C (p.Ile1666Thr)
|
rs1008817337
|
0.00003
|
|
NM_025137.4(SPG11):c.5103C>T (p.Asp1701=)
|
rs991666334
|
0.00003
|
|
NM_025137.4(SPG11):c.5187C>T (p.Asp1729=)
|
rs1042076487
|
0.00003
|
|
NM_025137.4(SPG11):c.5362G>A (p.Val1788Met)
|
rs200918991
|
0.00003
|
|
NM_025137.4(SPG11):c.5414G>A (p.Arg1805His)
|
rs775768037
|
0.00003
|
|
NM_025137.4(SPG11):c.5520G>A (p.Glu1840=)
|
rs776721395
|
0.00003
|
|
NM_025137.4(SPG11):c.5613T>C (p.Asp1871=)
|
rs146251582
|
0.00003
|
|
NM_025137.4(SPG11):c.5695C>T (p.Arg1899Trp)
|
rs748177028
|
0.00003
|
|
NM_025137.4(SPG11):c.5817G>A (p.Glu1939=)
|
rs146961070
|
0.00003
|
|
NM_025137.4(SPG11):c.5863A>G (p.Ser1955Gly)
|
rs1479657715
|
0.00003
|
|
NM_025137.4(SPG11):c.6028G>T (p.Asp2010Tyr)
|
rs1060501171
|
0.00003
|
|
NM_025137.4(SPG11):c.6062G>A (p.Arg2021Gln)
|
rs375420533
|
0.00003
|
|
NM_025137.4(SPG11):c.6091C>G (p.Arg2031Gly)
|
rs147713329
|
0.00003
|
|
NM_025137.4(SPG11):c.6100C>T (p.Arg2034Ter)
|
rs118203963
|
0.00003
|
|
NM_025137.4(SPG11):c.616dup (p.Thr206fs)
|
rs756103019
|
0.00003
|
|
NM_025137.4(SPG11):c.6176G>A (p.Arg2059Gln)
|
rs757619567
|
0.00003
|
|
NM_025137.4(SPG11):c.634A>G (p.Ile212Val)
|
rs758638438
|
0.00003
|
|
NM_025137.4(SPG11):c.6402C>T (p.Gly2134=)
|
rs745801884
|
0.00003
|
|
NM_025137.4(SPG11):c.6481C>T (p.Arg2161Trp)
|
rs773954273
|
0.00003
|
|
NM_025137.4(SPG11):c.6586-8C>T
|
rs778033975
|
0.00003
|
|
NM_025137.4(SPG11):c.6621C>G (p.Ile2207Met)
|
rs758008249
|
0.00003
|
|
NM_025137.4(SPG11):c.66G>A (p.Met22Ile)
|
rs1168936368
|
0.00003
|
|
NM_025137.4(SPG11):c.6766A>C (p.Lys2256Gln)
|
rs771589139
|
0.00003
|
|
NM_025137.4(SPG11):c.6851G>A (p.Cys2284Tyr)
|
rs760841252
|
0.00003
|
|
NM_025137.4(SPG11):c.6857G>A (p.Arg2286Gln)
|
rs370773328
|
0.00003
|
|
NM_025137.4(SPG11):c.6864_6866dup (p.Ala2288_Gln2289insHis)
|
rs1331704584
|
0.00003
|
|
NM_025137.4(SPG11):c.7152-7T>A
|
rs759692377
|
0.00003
|
|
NM_025137.4(SPG11):c.7245A>T (p.Ala2415=)
|
rs774478465
|
0.00003
|
|
NM_025137.4(SPG11):c.7302T>C (p.Gly2434=)
|
rs1051055977
|
0.00003
|
|
NM_025137.4(SPG11):c.89T>G (p.Leu30Trp)
|
rs750684185
|
0.00003
|
|
NM_025137.4(SPG11):c.937G>A (p.Val313Ile)
|
rs533492925
|
0.00003
|
|
NM_031448.6(C19orf12):c.-10-5C>T
|
rs546546532
|
0.00003
|
|
NM_031448.6(C19orf12):c.-2C>T
|
rs397514477
|
0.00003
|
|
NM_031448.6(C19orf12):c.384C>T (p.Tyr128=)
|
rs769604905
|
0.00003
|
|
NM_058004.4(PI4KA):c.803G>A (p.Arg268His)
|
rs370921524
|
0.00003
|
|
NM_133443.4(GPT2):c.775T>C (p.Cys259Arg)
|
rs368711025
|
0.00003
|
|
NM_144599.5(NIPA1):c.*3126C>T
|
rs886050992
|
0.00003
|
|
NM_144599.5(NIPA1):c.*4043A>G
|
rs1022534252
|
0.00003
|
|
NM_144599.5(NIPA1):c.242T>C (p.Ile81Thr)
|
rs750364669
|
0.00003
|
|
NM_144599.5(NIPA1):c.759G>A (p.Glu253=)
|
rs781769053
|
0.00003
|
|
NM_152269.5(MTRFR):c.309G>A (p.Gln103=)
|
rs573747271
|
0.00003
|
|
NM_152415.3(VPS37A):c.969+6A>G
|
rs757678084
|
0.00003
|
|
NM_183075.3(CYP2U1):c.1462C>T (p.Arg488Trp)
|
rs141431913
|
0.00003
|
|
NM_183075.3(CYP2U1):c.360C>G (p.Phe120Leu)
|
rs753662731
|
0.00003
|
|
NM_000533.5(PLP1):c.191+17C>T
|
rs368688220
|
0.00002
|
|
NM_000533.5(PLP1):c.202T>C (p.Phe68Leu)
|
rs1483853759
|
0.00002
|
|
NM_000533.5(PLP1):c.340A>G (p.Ser114Gly)
|
rs1317908306
|
0.00002
|
|
NM_000533.5(PLP1):c.666C>T (p.Ser222=)
|
rs773350786
|
0.00002
|
|
NM_001010867.4(IBA57):c.138G>C (p.Ala46=)
|
rs1037373507
|
0.00002
|
|
NM_001010867.4(IBA57):c.342-7C>A
|
rs368007738
|
0.00002
|
|
NM_001010867.4(IBA57):c.766A>T (p.Thr256Ser)
|
rs539057206
|
0.00002
|
|
NM_001010867.4(IBA57):c.866C>T (p.Pro289Leu)
|
rs770987687
|
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.455A>G (p.Asn152Ser)
|
rs137852972
|
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_001128126.3(AP4S1):c.138+2T>G
|
rs377679827
|
0.00002
|
|
NM_001128126.3(AP4S1):c.139-2A>G
|
rs758748011
|
0.00002
|
|
NM_001128126.3(AP4S1):c.295-3C>A
|
rs185246578
|
0.00002
|
|
NM_001130438.3(SPTAN1):c.2720G>T (p.Arg907Leu)
|
rs780303413
|
0.00002
|
|
NM_001160148.2(DDHD1):c.14G>C (p.Gly5Ala)
|
rs1184854729
|
0.00002
|
|
NM_001160148.2(DDHD1):c.1890G>A (p.Ala630=)
|
rs546774166
|
0.00002
|
|
NM_001160148.2(DDHD1):c.19G>A (p.Gly7Arg)
|
rs1052951644
|
0.00002
|
|
NM_001160148.2(DDHD1):c.2128A>G (p.Thr710Ala)
|
rs778314127
|
0.00002
|
|
NM_001160148.2(DDHD1):c.2386G>A (p.Val796Ile)
|
rs184982008
|
0.00002
|
|
NM_001160148.2(DDHD1):c.381G>T (p.Pro127=)
|
rs776947891
|
0.00002
|
|
NM_001160148.2(DDHD1):c.48C>G (p.Gly16=)
|
rs907736393
|
0.00002
|
|
NM_001160148.2(DDHD1):c.729G>A (p.Gly243=)
|
rs113642168
|
0.00002
|
|
NM_001160148.2(DDHD1):c.836A>G (p.Asn279Ser)
|
rs151013237
|
0.00002
|
|
NM_001160148.2(DDHD1):c.837C>T (p.Asn279=)
|
rs758999007
|
0.00002
|
|
NM_001166114.2(PNPLA6):c.1005C>T (p.His335=)
|
rs769241929
|
0.00002
|
|
NM_001166114.2(PNPLA6):c.1006-9T>C
|
rs1226486078
|
0.00002
|
|
NM_001166114.2(PNPLA6):c.1181A>G (p.Lys394Arg)
|
rs764509267
|
0.00002
|
|
NM_001166114.2(PNPLA6):c.1281C>T (p.Phe427=)
|
rs1043129630
|
0.00002
|
|
NM_001166114.2(PNPLA6):c.139C>T (p.Pro47Ser)
|
rs777579622
|
0.00002
|
|
NM_001166114.2(PNPLA6):c.1531-15C>A
|
rs771909480
|
0.00002
|
|
NM_001166114.2(PNPLA6):c.1782C>T (p.Thr594=)
|
rs777094653
|
0.00002
|
|
NM_001166114.2(PNPLA6):c.198C>T (p.Leu66=)
|
rs753632897
|
0.00002
|
|
NM_001166114.2(PNPLA6):c.2028G>A (p.Lys676=)
|
rs779751590
|
0.00002
|
|
NM_001166114.2(PNPLA6):c.2093C>G (p.Pro698Arg)
|
rs2023619514
|
0.00002
|
|
NM_001166114.2(PNPLA6):c.2400C>T (p.Ile800=)
|
rs558598120
|
0.00002
|
|
NM_001166114.2(PNPLA6):c.2405C>T (p.Pro802Leu)
|
rs1009954378
|
0.00002
|
|
NM_001166114.2(PNPLA6):c.2466-15C>G
|
rs752644597
|
0.00002
|
|
NM_001166114.2(PNPLA6):c.2483del (p.Leu828fs)
|
rs756542477
|
0.00002
|
|
NM_001166114.2(PNPLA6):c.2488G>C (p.Gly830Arg)
|
rs1244234383
|
0.00002
|
|
NM_001166114.2(PNPLA6):c.2529C>G (p.Leu843=)
|
rs770688190
|
0.00002
|
|
NM_001166114.2(PNPLA6):c.2613C>A (p.Asp871Glu)
|
rs775179789
|
0.00002
|
|
NM_001166114.2(PNPLA6):c.294T>C (p.Tyr98=)
|
rs750173009
|
0.00002
|
|
NM_001166114.2(PNPLA6):c.2967A>G (p.Ala989=)
|
rs778046695
|
0.00002
|
|
NM_001166114.2(PNPLA6):c.2985C>T (p.Val995=)
|
rs572115607
|
0.00002
|
|
NM_001166114.2(PNPLA6):c.3094-18C>T
|
rs370149053
|
0.00002
|
|
NM_001166114.2(PNPLA6):c.3094-9T>G
|
rs769489792
|
0.00002
|
|
NM_001166114.2(PNPLA6):c.3105G>A (p.Ser1035=)
|
rs779667737
|
0.00002
|
|
NM_001166114.2(PNPLA6):c.315+19G>C
|
rs746162865
|
0.00002
|
|
NM_001166114.2(PNPLA6):c.3304G>A (p.Ala1102Thr)
|
rs1236012815
|
0.00002
|
|
NM_001166114.2(PNPLA6):c.3344A>G (p.Asp1115Gly)
|
rs762434726
|
0.00002
|
|
NM_001166114.2(PNPLA6):c.3354C>T (p.Asp1118=)
|
rs765884981
|
0.00002
|
|
NM_001166114.2(PNPLA6):c.3355G>A (p.Gly1119Arg)
|
rs773955314
|
0.00002
|
|
NM_001166114.2(PNPLA6):c.3439A>G (p.Ile1147Val)
|
rs754198302
|
0.00002
|
|
NM_001166114.2(PNPLA6):c.3480C>T (p.Tyr1160=)
|
rs200236935
|
0.00002
|
|
NM_001166114.2(PNPLA6):c.3496G>A (p.Gly1166Ser)
|
rs142422525
|
0.00002
|
|
NM_001166114.2(PNPLA6):c.3510G>A (p.Leu1170=)
|
rs762829297
|
0.00002
|
|
NM_001166114.2(PNPLA6):c.357C>T (p.Ser119=)
|
rs143109037
|
0.00002
|
|
NM_001166114.2(PNPLA6):c.367C>A (p.Arg123=)
|
rs201894083
|
0.00002
|
|
NM_001166114.2(PNPLA6):c.3688G>A (p.Asp1230Asn)
|
rs747752100
|
0.00002
|
|
NM_001166114.2(PNPLA6):c.3699+19C>T
|
rs749392504
|
0.00002
|
|
NM_001166114.2(PNPLA6):c.3718G>A (p.Gly1240Arg)
|
rs769927461
|
0.00002
|
|
NM_001166114.2(PNPLA6):c.3728T>C (p.Val1243Ala)
|
rs760045636
|
0.00002
|
|
NM_001166114.2(PNPLA6):c.3739T>C (p.Trp1247Arg)
|
rs768125081
|
0.00002
|
|
NM_001166114.2(PNPLA6):c.3744C>G (p.Ser1248Arg)
|
rs1000008449
|
0.00002
|
|
NM_001166114.2(PNPLA6):c.3745C>T (p.Arg1249Cys)
|
rs562876825
|
0.00002
|
|
NM_001166114.2(PNPLA6):c.3746G>A (p.Arg1249His)
|
rs760038069
|
0.00002
|
|
NM_001166114.2(PNPLA6):c.3779G>A (p.Arg1260Gln)
|
rs758242525
|
0.00002
|
|
NM_001166114.2(PNPLA6):c.3816C>T (p.Asp1272=)
|
rs531640488
|
0.00002
|
|
NM_001166114.2(PNPLA6):c.3868C>T (p.Arg1290Trp)
|
rs369159451
|
0.00002
|
|
NM_001166114.2(PNPLA6):c.3901G>A (p.Gly1301Ser)
|
rs1350448949
|
0.00002
|
|
NM_001166114.2(PNPLA6):c.3969G>A (p.Ser1323=)
|
rs141360025
|
0.00002
|
|
NM_001166114.2(PNPLA6):c.3996C>T (p.Gly1332=)
|
rs775120459
|
0.00002
|
|
NM_001166114.2(PNPLA6):c.4024-11T>G
|
rs752929790
|
0.00002
|
|
NM_001166114.2(PNPLA6):c.4051C>T (p.Arg1351Ter)
|
rs370033046
|
0.00002
|
|
NM_001166114.2(PNPLA6):c.4054C>T (p.Arg1352Cys)
|
rs1204274988
|
0.00002
|
|
NM_001166114.2(PNPLA6):c.414-12C>T
|
rs1360560485
|
0.00002
|
|
NM_001166114.2(PNPLA6):c.437C>T (p.Thr146Met)
|
rs865966998
|
0.00002
|
|
NM_001166114.2(PNPLA6):c.636C>T (p.Tyr212=)
|
rs747896630
|
0.00002
|
|
NM_001166114.2(PNPLA6):c.649G>A (p.Gly217Ser)
|
rs150620708
|
0.00002
|
|
NM_001166114.2(PNPLA6):c.796-3C>T
|
rs756266429
|
0.00002
|
|
NM_001166114.2(PNPLA6):c.879C>T (p.Ser293=)
|
rs766312635
|
0.00002
|
|
NM_001166114.2(PNPLA6):c.881C>T (p.Ala294Val)
|
rs756180538
|
0.00002
|
|
NM_001199753.2(CPT1C):c.157G>A (p.Gly53Ser)
|
rs374236576
|
0.00002
|
|
NM_001199753.2(CPT1C):c.2322G>C (p.Gly774=)
|
rs572300945
|
0.00002
|
|
NM_001199753.2(CPT1C):c.294C>T (p.His98=)
|
rs766479674
|
0.00002
|
|
NM_001199753.2(CPT1C):c.899G>A (p.Arg300His)
|
rs753309074
|
0.00002
|
|
NM_001244008.2(KIF1A):c.*2796C>T
|
rs756743128
|
0.00002
|
|
NM_001244008.2(KIF1A):c.*2954G>A
|
rs577880393
|
0.00002
|
|
NM_001244008.2(KIF1A):c.*485C>G
|
rs886055834
|
0.00002
|
|
NM_001244008.2(KIF1A):c.1110C>T (p.Arg370=)
|
rs369641508
|
0.00002
|
|
NM_001244008.2(KIF1A):c.1152C>T (p.Tyr384=)
|
rs776874494
|
0.00002
|
|
NM_001244008.2(KIF1A):c.1167C>T (p.Gly389=)
|
rs575222271
|
0.00002
|
|
NM_001244008.2(KIF1A):c.1208-6C>T
|
rs766308686
|
0.00002
|
|
NM_001244008.2(KIF1A):c.1264C>T (p.Arg422Cys)
|
rs374011613
|
0.00002
|
|
NM_001244008.2(KIF1A):c.1265G>A (p.Arg422His)
|
rs771678168
|
0.00002
|
|
NM_001244008.2(KIF1A):c.1269G>A (p.Ala423=)
|
rs530550994
|
0.00002
|
|
NM_001244008.2(KIF1A):c.1275C>T (p.Ser425=)
|
rs756211604
|
0.00002
|
|
NM_001244008.2(KIF1A):c.1342-3C>T
|
rs776860368
|
0.00002
|
|
NM_001244008.2(KIF1A):c.1363G>C (p.Glu455Gln)
|
rs777894370
|
0.00002
|
|
NM_001244008.2(KIF1A):c.1394G>A (p.Arg465Gln)
|
rs779186742
|
0.00002
|
|
NM_001244008.2(KIF1A):c.1422G>A (p.Arg474=)
|
rs763602734
|
0.00002
|
|
NM_001244008.2(KIF1A):c.1521C>T (p.Asn507=)
|
rs533472375
|
0.00002
|
|
NM_001244008.2(KIF1A):c.156T>C (p.Phe52=)
|
rs772512390
|
0.00002
|
|
NM_001244008.2(KIF1A):c.1577+7G>A
|
rs781749303
|
0.00002
|
|
NM_001244008.2(KIF1A):c.1769-9G>C
|
rs756408004
|
0.00002
|
|
NM_001244008.2(KIF1A):c.183+20C>T
|
rs752475137
|
0.00002
|
|
NM_001244008.2(KIF1A):c.1923C>T (p.Ile641=)
|
rs371188993
|
0.00002
|
|
NM_001244008.2(KIF1A):c.1980C>T (p.Arg660=)
|
rs1355197070
|
0.00002
|
|
NM_001244008.2(KIF1A):c.201C>T (p.Tyr67=)
|
rs767617976
|
0.00002
|
|
NM_001244008.2(KIF1A):c.2022+14C>T
|
rs903034517
|
0.00002
|
|
NM_001244008.2(KIF1A):c.2070G>A (p.Arg690=)
|
rs749762798
|
0.00002
|
|
NM_001244008.2(KIF1A):c.2117-8C>T
|
rs756474087
|
0.00002
|
|
NM_001244008.2(KIF1A):c.2292G>A (p.Thr764=)
|
rs773940730
|
0.00002
|
|
NM_001244008.2(KIF1A):c.2344A>G (p.Lys782Glu)
|
rs569071678
|
0.00002
|
|
NM_001244008.2(KIF1A):c.2359C>T (p.Arg787Trp)
|
rs756664454
|
0.00002
|
|
NM_001244008.2(KIF1A):c.2403G>A (p.Gln801=)
|
rs770666285
|
0.00002
|
|
NM_001244008.2(KIF1A):c.2476G>A (p.Asp826Asn)
|
rs748073694
|
0.00002
|
|
NM_001244008.2(KIF1A):c.2481C>T (p.Arg827=)
|
rs371444142
|
0.00002
|
|
NM_001244008.2(KIF1A):c.2491G>A (p.Val831Met)
|
rs746223038
|
0.00002
|
|
NM_001244008.2(KIF1A):c.2508C>T (p.Ile836=)
|
rs567112935
|
0.00002
|
|
NM_001244008.2(KIF1A):c.2562C>G (p.Pro854=)
|
rs375824464
|
0.00002
|
|
NM_001244008.2(KIF1A):c.2680G>A (p.Asp894Asn)
|
rs1064796756
|
0.00002
|
|
NM_001244008.2(KIF1A):c.2893G>A (p.Val965Ile)
|
rs747975784
|
0.00002
|
|
NM_001244008.2(KIF1A):c.2908C>T (p.Arg970Cys)
|
rs864309570
|
0.00002
|
|
NM_001244008.2(KIF1A):c.2934C>T (p.Gly978=)
|
rs751977290
|
0.00002
|
|
NM_001244008.2(KIF1A):c.2978-6C>T
|
rs755569458
|
0.00002
|
|
NM_001244008.2(KIF1A):c.3021G>A (p.Ser1007=)
|
rs769618125
|
0.00002
|
|
NM_001244008.2(KIF1A):c.3073G>A (p.Glu1025Lys)
|
rs1476899818
|
0.00002
|
|
NM_001244008.2(KIF1A):c.3104C>T (p.Ser1035Leu)
|
rs764873243
|
0.00002
|
|
NM_001244008.2(KIF1A):c.3189C>T (p.Asn1063=)
|
rs770244295
|
0.00002
|
|
NM_001244008.2(KIF1A):c.3271G>C (p.Ala1091Pro)
|
rs779093187
|
0.00002
|
|
NM_001244008.2(KIF1A):c.327C>A (p.Gly109=)
|
rs776064107
|
0.00002
|
|
NM_001244008.2(KIF1A):c.3385C>T (p.Arg1129Cys)
|
rs774779281
|
0.00002
|
|
NM_001244008.2(KIF1A):c.3465+14C>T
|
rs750660698
|
0.00002
|
|
NM_001244008.2(KIF1A):c.3465+4C>T
|
rs879064869
|
0.00002
|
|
NM_001244008.2(KIF1A):c.3509G>A (p.Ser1170Asn)
|
rs776451256
|
0.00002
|
|
NM_001244008.2(KIF1A):c.3601C>T (p.Arg1201Cys)
|
rs752464745
|
0.00002
|
|
NM_001244008.2(KIF1A):c.363+4C>T
|
rs770137926
|
0.00002
|
|
NM_001244008.2(KIF1A):c.3721G>A (p.Glu1241Lys)
|
rs770190085
|
0.00002
|
|
NM_001244008.2(KIF1A):c.3800C>A (p.Thr1267Asn)
|
rs762566586
|
0.00002
|
|
NM_001244008.2(KIF1A):c.3810C>T (p.Leu1270=)
|
rs542607961
|
0.00002
|
|
NM_001244008.2(KIF1A):c.3816+20C>T
|
rs376501987
|
0.00002
|
|
NM_001244008.2(KIF1A):c.3816+9C>T
|
rs527731125
|
0.00002
|
|
NM_001244008.2(KIF1A):c.3836C>T (p.Thr1279Met)
|
rs755107272
|
0.00002
|
|
NM_001244008.2(KIF1A):c.3897C>T (p.Val1299=)
|
rs765966897
|
0.00002
|
|
NM_001244008.2(KIF1A):c.3901+9G>A
|
rs141647310
|
0.00002
|
|
NM_001244008.2(KIF1A):c.3902-16G>A
|
rs369159697
|
0.00002
|
|
NM_001244008.2(KIF1A):c.3927C>T (p.Thr1309=)
|
rs745933421
|
0.00002
|
|
NM_001244008.2(KIF1A):c.3943G>A (p.Asp1315Asn)
|
rs749879166
|
0.00002
|
|
NM_001244008.2(KIF1A):c.3979G>A (p.Gly1327Arg)
|
rs879253904
|
0.00002
|
|
NM_001244008.2(KIF1A):c.4007+19G>A
|
rs1283997734
|
0.00002
|
|
NM_001244008.2(KIF1A):c.4007+7C>T
|
rs555842583
|
0.00002
|
|
NM_001244008.2(KIF1A):c.4077C>T (p.Thr1359=)
|
rs377678030
|
0.00002
|
|
NM_001244008.2(KIF1A):c.408C>G (p.Asp136Glu)
|
rs761179236
|
0.00002
|
|
NM_001244008.2(KIF1A):c.4119C>T (p.Ile1373=)
|
rs764237250
|
0.00002
|
|
NM_001244008.2(KIF1A):c.4142C>T (p.Pro1381Leu)
|
rs766841187
|
0.00002
|
|
NM_001244008.2(KIF1A):c.423C>T (p.Ser141=)
|
rs565992344
|
0.00002
|
|
NM_001244008.2(KIF1A):c.4596G>A (p.Pro1532=)
|
rs952512510
|
0.00002
|
|
NM_001244008.2(KIF1A):c.4660G>A (p.Val1554Ile)
|
rs567408550
|
0.00002
|
|
NM_001244008.2(KIF1A):c.4666-7T>C
|
rs772378313
|
0.00002
|
|
NM_001244008.2(KIF1A):c.4682C>T (p.Thr1561Met)
|
rs769101887
|
0.00002
|
|
NM_001244008.2(KIF1A):c.4716C>T (p.His1572=)
|
rs375640417
|
0.00002
|
|
NM_001244008.2(KIF1A):c.4723G>A (p.Val1575Ile)
|
rs779019920
|
0.00002
|
|
NM_001244008.2(KIF1A):c.4779G>A (p.Pro1593=)
|
rs757313706
|
0.00002
|
|
NM_001244008.2(KIF1A):c.4820C>T (p.Ser1607Phe)
|
rs768366163
|
0.00002
|
|
NM_001244008.2(KIF1A):c.482A>T (p.Lys161Met)
|
rs1011045689
|
0.00002
|
|
NM_001244008.2(KIF1A):c.4834C>T (p.Leu1612=)
|
rs772100288
|
0.00002
|
|
NM_001244008.2(KIF1A):c.4938G>A (p.Lys1646=)
|
rs748196598
|
0.00002
|
|
NM_001244008.2(KIF1A):c.5015G>A (p.Arg1672Gln)
|
rs761974755
|
0.00002
|
|
NM_001244008.2(KIF1A):c.5017G>A (p.Val1673Ile)
|
rs774256831
|
0.00002
|
|
NM_001244008.2(KIF1A):c.5022-14C>A
|
rs768163198
|
0.00002
|
|
NM_001244008.2(KIF1A):c.502G>A (p.Val168Met)
|
rs1057519241
|
0.00002
|
|
NM_001244008.2(KIF1A):c.5232G>A (p.Ala1744=)
|
rs750647166
|
0.00002
|
|
NM_001244008.2(KIF1A):c.608+3G>A
|
rs367999658
|
0.00002
|
|
NM_001244008.2(KIF1A):c.658G>A (p.Val220Ile)
|
rs201314877
|
0.00002
|
|
NM_001244008.2(KIF1A):c.713C>T (p.Thr238Met)
|
rs780752268
|
0.00002
|
|
NM_001244008.2(KIF1A):c.721-9C>T
|
rs1383106567
|
0.00002
|
|
NM_001244008.2(KIF1A):c.882+4A>G
|
rs1330207710
|
0.00002
|
|
NM_001244008.2(KIF1A):c.927C>T (p.Ser309=)
|
rs748423559
|
0.00002
|
|
NM_001253852.3(AP4B1):c.1356T>C (p.Asn452=)
|
rs144215222
|
0.00002
|
|
NM_001253852.3(AP4B1):c.1460G>A (p.Arg487Gln)
|
rs375080258
|
0.00002
|
|
NM_001253852.3(AP4B1):c.1489C>T (p.Arg497Cys)
|
rs756404463
|
0.00002
|
|
NM_001253852.3(AP4B1):c.1535G>A (p.Arg512Gln)
|
rs754458814
|
0.00002
|
|
NM_001253852.3(AP4B1):c.159G>A (p.Met53Ile)
|
rs778624334
|
0.00002
|
|
NM_001253852.3(AP4B1):c.1642C>A (p.Pro548Thr)
|
rs866175993
|
0.00002
|
|
NM_001253852.3(AP4B1):c.1679T>G (p.Phe560Cys)
|
rs780654750
|
0.00002
|
|
NM_001253852.3(AP4B1):c.1687C>T (p.Leu563=)
|
rs752469657
|
0.00002
|
|
NM_001253852.3(AP4B1):c.2007C>T (p.Ile669=)
|
rs146869083
|
0.00002
|
|
NM_001253852.3(AP4B1):c.2030G>A (p.Arg677Gln)
|
rs752940030
|
0.00002
|
|
NM_001253852.3(AP4B1):c.567G>A (p.Gln189=)
|
rs933273265
|
0.00002
|
|
NM_001253852.3(AP4B1):c.617G>A (p.Arg206Gln)
|
rs149705131
|
0.00002
|
|
NM_001253852.3(AP4B1):c.670C>T (p.Arg224Cys)
|
rs138216814
|
0.00002
|
|
NM_001253852.3(AP4B1):c.787G>A (p.Ala263Thr)
|
rs760880631
|
0.00002
|
|
NM_001253852.3(AP4B1):c.894T>A (p.Cys298Ter)
|
rs746462207
|
0.00002
|
|
NM_001271803.2(REEP2):c.189C>T (p.Pro63=)
|
rs745735439
|
0.00002
|
|
NM_001271803.2(REEP2):c.477C>T (p.Ile159=)
|
rs1216347336
|
0.00002
|
|
NM_001271803.2(REEP2):c.626C>G (p.Ala209Gly)
|
rs149979144
|
0.00002
|
|
NM_001278116.2(L1CAM):c.198-9C>T
|
rs782753470
|
0.00002
|
|
NM_001278116.2(L1CAM):c.401-7C>G
|
rs1424993007
|
0.00002
|
|
NM_001318734.2(KLC2):c.1526G>A (p.Arg509Gln)
|
rs749350069
|
0.00002
|
|
NM_001351169.2(NT5C2):c.1099C>T (p.Arg367Ter)
|
rs769873284
|
0.00002
|
|
NM_001351169.2(NT5C2):c.1685A>G (p.Ter562=)
|
rs536377819
|
0.00002
|
|
NM_001351169.2(NT5C2):c.336C>T (p.Val112=)
|
rs12253627
|
0.00002
|
|
NM_001368809.2(AMPD2):c.-112G>A
|
rs759948714
|
0.00002
|
|
NM_001368809.2(AMPD2):c.1050G>A (p.Val350=)
|
rs758064430
|
0.00002
|
|
NM_001368809.2(AMPD2):c.1203G>A (p.Thr401=)
|
rs756936910
|
0.00002
|
|
NM_001368809.2(AMPD2):c.1276-4C>T
|
rs769541378
|
0.00002
|
|
NM_001368809.2(AMPD2):c.143C>T (p.Pro48Leu)
|
rs770051774
|
0.00002
|
|
NM_001368809.2(AMPD2):c.1673C>T (p.Pro558Leu)
|
rs780742359
|
0.00002
|
|
NM_001368809.2(AMPD2):c.175C>T (p.Leu59Phe)
|
rs766037337
|
0.00002
|
|
NM_001368809.2(AMPD2):c.1862+10C>T
|
rs371378180
|
0.00002
|
|
NM_001368809.2(AMPD2):c.223-5C>A
|
rs764953041
|
0.00002
|
|
NM_001368809.2(AMPD2):c.353+10G>A
|
rs1269768577
|
0.00002
|
|
NM_001368809.2(AMPD2):c.841C>T (p.Arg281Cys)
|
rs769550203
|
0.00002
|
|
NM_001368809.2(AMPD2):c.928G>A (p.Ala310Thr)
|
rs747438024
|
0.00002
|
|
NM_001371279.1(REEP1):c.*2733A>C
|
rs886056396
|
0.00002
|
|
NM_001371279.1(REEP1):c.156G>A (p.Glu52=)
|
rs750019085
|
0.00002
|
|
NM_001371279.1(REEP1):c.408T>A (p.Ala136=)
|
rs368965566
|
0.00002
|
|
NM_001371279.1(REEP1):c.489C>T (p.Gly163=)
|
rs750875451
|
0.00002
|
|
NM_001385875.1(ZFYVE27):c.*1148C>T
|
rs371748674
|
0.00002
|
|
NM_001385875.1(ZFYVE27):c.913G>A (p.Ala305Thr)
|
rs1405750745
|
0.00002
|
|
NM_001776.6(ENTPD1):c.1189-17C>T
|
rs750828209
|
0.00002
|
|
NM_001776.6(ENTPD1):c.1251C>T (p.Thr417=)
|
rs774254302
|
0.00002
|
|
NM_001776.6(ENTPD1):c.1339G>A (p.Asp447Asn)
|
rs1312380068
|
0.00002
|
|
NM_001776.6(ENTPD1):c.1342G>A (p.Ala448Thr)
|
rs768179232
|
0.00002
|
|
NM_001776.6(ENTPD1):c.691G>A (p.Glu231Lys)
|
rs754284810
|
0.00002
|
|
NM_002361.4(MAG):c.111C>T (p.Cys37=)
|
rs540917777
|
0.00002
|
|
NM_002361.4(MAG):c.1456G>A (p.Val486Ile)
|
rs142036180
|
0.00002
|
|
NM_002361.4(MAG):c.1760G>A (p.Arg587Gln)
|
rs201094395
|
0.00002
|
|
NM_002361.4(MAG):c.1777C>G (p.Leu593Val)
|
rs752836680
|
0.00002
|
|
NM_002361.4(MAG):c.1842G>A (p.Thr614=)
|
rs768107293
|
0.00002
|
|
NM_002361.4(MAG):c.905T>A (p.Val302Asp)
|
rs76943436
|
0.00002
|
|
NM_002693.3(POLG):c.1808T>C (p.Met603Thr)
|
rs367610201
|
0.00002
|
|
NM_002693.3(POLG):c.3564C>T (p.Cys1188=)
|
rs146584956
|
0.00002
|
|
NM_002693.3(POLG):c.452T>C (p.Leu151Pro)
|
rs749018627
|
0.00002
|
|
NM_002860.4(ALDH18A1):c.1198C>T (p.Arg400Cys)
|
rs907590719
|
0.00002
|
|
NM_002860.4(ALDH18A1):c.1358G>A (p.Arg453His)
|
rs765122458
|
0.00002
|
|
NM_002860.4(ALDH18A1):c.1366C>T (p.Arg456Cys)
|
rs763868475
|
0.00002
|
|
NM_002860.4(ALDH18A1):c.1367G>A (p.Arg456His)
|
rs760865106
|
0.00002
|
|
NM_002860.4(ALDH18A1):c.183C>T (p.Phe61=)
|
rs375400820
|
0.00002
|
|
NM_002860.4(ALDH18A1):c.2098G>A (p.Val700Ile)
|
rs375705932
|
0.00002
|
|
NM_002860.4(ALDH18A1):c.2109C>T (p.Asp703=)
|
rs779516879
|
0.00002
|
|
NM_002860.4(ALDH18A1):c.2217G>A (p.Val739=)
|
rs1002367939
|
0.00002
|
|
NM_002860.4(ALDH18A1):c.2294G>A (p.Arg765Gln)
|
rs537043237
|
0.00002
|
|
NM_002860.4(ALDH18A1):c.2308G>A (p.Val770Met)
|
rs369153920
|
0.00002
|
|
NM_002860.4(ALDH18A1):c.231C>T (p.Leu77=)
|
rs1278292461
|
0.00002
|
|
NM_002860.4(ALDH18A1):c.2361C>T (p.Leu787=)
|
rs377506019
|
0.00002
|
|
NM_002860.4(ALDH18A1):c.251G>A (p.Arg84Gln)
|
rs121434582
|
0.00002
|
|
NM_002860.4(ALDH18A1):c.454-9A>G
|
rs775098819
|
0.00002
|
|
NM_002860.4(ALDH18A1):c.465C>T (p.Val155=)
|
rs545084277
|
0.00002
|
|
NM_002860.4(ALDH18A1):c.599G>A (p.Arg200His)
|
rs746256246
|
0.00002
|
|
NM_002860.4(ALDH18A1):c.786G>C (p.Leu262Phe)
|
rs1380580792
|
0.00002
|
|
NM_002860.4(ALDH18A1):c.966C>T (p.Gly322=)
|
rs754882491
|
0.00002
|
|
NM_002861.5(PCYT2):c.676C>T (p.His226Tyr)
|
rs778113360
|
0.00002
|
|
NM_002861.5(PCYT2):c.866C>T (p.Pro289Leu)
|
rs1204173741
|
0.00002
|
|
NM_003119.4(SPG7):c.1192C>T (p.Arg398Ter)
|
rs1373388852
|
0.00002
|
|
NM_003119.4(SPG7):c.1201G>A (p.Ala401Thr)
|
rs776587961
|
0.00002
|
|
NM_003119.4(SPG7):c.1242C>G (p.Gly414=)
|
rs776578314
|
0.00002
|
|
NM_003119.4(SPG7):c.1596G>A (p.Ala532=)
|
rs752346853
|
0.00002
|
|
NM_003119.4(SPG7):c.1599G>A (p.Ala533=)
|
rs561746823
|
0.00002
|
|
NM_003119.4(SPG7):c.1699G>A (p.Glu567Lys)
|
rs577389704
|
0.00002
|
|
NM_003119.4(SPG7):c.1775T>G (p.Met592Arg)
|
rs781314016
|
0.00002
|
|
NM_003119.4(SPG7):c.1795C>T (p.Arg599Trp)
|
rs764645740
|
0.00002
|
|
NM_003119.4(SPG7):c.185G>A (p.Ser62Asn)
|
rs143294686
|
0.00002
|
|
NM_003119.4(SPG7):c.1937-2A>G
|
rs568556987
|
0.00002
|
|
NM_003119.4(SPG7):c.201del (p.Leu67_Leu68insTer)
|
rs763413730
|
0.00002
|
|
NM_003119.4(SPG7):c.2283G>A (p.Gln761=)
|
rs116035086
|
0.00002
|
|
NM_003119.4(SPG7):c.228C>T (p.Asn76=)
|
rs369989832
|
0.00002
|
|
NM_003119.4(SPG7):c.234G>T (p.Leu78Phe)
|
rs770487062
|
0.00002
|
|
NM_003119.4(SPG7):c.25C>T (p.Arg9Cys)
|
rs1368314619
|
0.00002
|
|
NM_003119.4(SPG7):c.359C>T (p.Ala120Val)
|
rs530877336
|
0.00002
|
|
NM_003119.4(SPG7):c.403G>A (p.Asp135Asn)
|
rs767820132
|
0.00002
|
|
NM_003119.4(SPG7):c.423G>T (p.Arg141=)
|
rs777943597
|
0.00002
|
|
NM_003119.4(SPG7):c.517G>A (p.Glu173Lys)
|
rs577497147
|
0.00002
|
|
NM_003119.4(SPG7):c.619-7C>A
|
rs779835775
|
0.00002
|
|
NM_003119.4(SPG7):c.706G>A (p.Glu236Lys)
|
rs376360606
|
0.00002
|
|
NM_004722.4(AP4M1):c.1026-20C>G
|
rs371922404
|
0.00002
|
|
NM_004722.4(AP4M1):c.1257C>T (p.Leu419=)
|
rs772168477
|
0.00002
|
|
NM_004722.4(AP4M1):c.1318G>C (p.Val440Leu)
|
rs775699151
|
0.00002
|
|
NM_004722.4(AP4M1):c.1346A>G (p.Tyr449Cys)
|
rs754456635
|
0.00002
|
|
NM_004722.4(AP4M1):c.364G>A (p.Val122Ile)
|
rs572732241
|
0.00002
|
|
NM_004722.4(AP4M1):c.390G>A (p.Leu130=)
|
rs753736268
|
0.00002
|
|
NM_004722.4(AP4M1):c.408G>A (p.Thr136=)
|
rs1267130075
|
0.00002
|
|
NM_004722.4(AP4M1):c.68A>G (p.Asp23Gly)
|
rs767849761
|
0.00002
|
|
NM_004722.4(AP4M1):c.693G>A (p.Thr231=)
|
rs758378130
|
0.00002
|
|
NM_004722.4(AP4M1):c.750C>T (p.Val250=)
|
rs752745814
|
0.00002
|
|
NM_004722.4(AP4M1):c.803G>A (p.Arg268Gln)
|
rs565296810
|
0.00002
|
|
NM_004722.4(AP4M1):c.953G>A (p.Arg318Gln)
|
rs531148057
|
0.00002
|
|
NM_004820.5(CYP7B1):c.-11G>A
|
rs886063077
|
0.00002
|
|
NM_004820.5(CYP7B1):c.1220T>C (p.Phe407Ser)
|
rs769450032
|
0.00002
|
|
NM_004820.5(CYP7B1):c.1233G>A (p.Glu411=)
|
rs369566738
|
0.00002
|
|
NM_004984.4(KIF5A):c.-45C>T
|
rs760763129
|
0.00002
|
|
NM_004984.4(KIF5A):c.2120G>A (p.Arg707Gln)
|
rs1360689553
|
0.00002
|
|
NM_004984.4(KIF5A):c.2263G>A (p.Glu755Lys)
|
rs387907286
|
0.00002
|
|
NM_004984.4(KIF5A):c.2541G>T (p.Leu847=)
|
rs139023070
|
0.00002
|
|
NM_004984.4(KIF5A):c.2881G>A (p.Ala961Thr)
|
rs746095110
|
0.00002
|
|
NM_004984.4(KIF5A):c.2990A>T (p.Asn997Ile)
|
rs146202502
|
0.00002
|
|
NM_004990.4(MARS1):c.1873C>T (p.Arg625Trp)
|
rs754546247
|
0.00002
|
|
NM_005154.5(USP8):c.1084A>G (p.Ile362Val)
|
rs768800460
|
0.00002
|
|
NM_005154.5(USP8):c.2523G>A (p.Gln841=)
|
rs144363577
|
0.00002
|
|
NM_005154.5(USP8):c.254A>C (p.Tyr85Ser)
|
rs1322588568
|
0.00002
|
|
NM_005154.5(USP8):c.335+7A>G
|
rs761711198
|
0.00002
|
|
NM_005186.4(CAPN1):c.1442G>A (p.Arg481Gln)
|
rs763471308
|
0.00002
|
|
NM_006070.6(TFG):c.1048G>A (p.Ala350Thr)
|
rs543542721
|
0.00002
|
|
NM_006070.6(TFG):c.1172G>T (p.Gly391Val)
|
rs1214775332
|
0.00002
|
|
NM_006070.6(TFG):c.225C>G (p.Ser75=)
|
rs747353898
|
0.00002
|
|
NM_006070.6(TFG):c.391C>T (p.Pro131Ser)
|
rs770053266
|
0.00002
|
|
NM_006070.6(TFG):c.401A>G (p.Asn134Ser)
|
rs768746409
|
0.00002
|
|
NM_006070.6(TFG):c.464A>G (p.Lys155Arg)
|
rs966574827
|
0.00002
|
|
NM_006070.6(TFG):c.544A>C (p.Met182Leu)
|
rs755242228
|
0.00002
|
|
NM_006070.6(TFG):c.64C>T (p.Arg22Trp)
|
rs989357227
|
0.00002
|
|
NM_006070.6(TFG):c.738G>C (p.Gln246His)
|
rs370273888
|
0.00002
|
|
NM_006070.6(TFG):c.771G>A (p.Gln257=)
|
rs374006808
|
0.00002
|
|
NM_006070.6(TFG):c.828T>C (p.Tyr276=)
|
rs372641906
|
0.00002
|
|
NM_006459.4(ERLIN1):c.504+13C>T
|
rs1474417603
|
0.00002
|
|
NM_006459.4(ERLIN1):c.688C>T (p.Arg230Trp)
|
rs774701385
|
0.00002
|
|
NM_006459.4(ERLIN1):c.745+10G>C
|
rs1371863956
|
0.00002
|
|
NM_006612.6(KIF1C):c.1023T>C (p.Tyr341=)
|
rs758863136
|
0.00002
|
|
NM_006612.6(KIF1C):c.1038G>A (p.Lys346=)
|
rs753267733
|
0.00002
|
|
NM_006612.6(KIF1C):c.1336-10A>T
|
rs543096465
|
0.00002
|
|
NM_006612.6(KIF1C):c.1571+5C>T
|
rs191292171
|
0.00002
|
|
NM_006612.6(KIF1C):c.1794C>A (p.Asn598Lys)
|
rs1371284245
|
0.00002
|
|
NM_006612.6(KIF1C):c.1959G>A (p.Gln653=)
|
rs759048539
|
0.00002
|
|
NM_006612.6(KIF1C):c.2303G>A (p.Arg768Gln)
|
rs552440254
|
0.00002
|
|
NM_006612.6(KIF1C):c.2368G>A (p.Asp790Asn)
|
rs764241869
|
0.00002
|
|
NM_006612.6(KIF1C):c.2694A>G (p.Ala898=)
|
rs773159298
|
0.00002
|
|
NM_006612.6(KIF1C):c.2989G>A (p.Gly997Arg)
|
rs774701979
|
0.00002
|
|
NM_006612.6(KIF1C):c.3277G>A (p.Ala1093Thr)
|
rs1269241991
|
0.00002
|
|
NM_006612.6(KIF1C):c.499C>T (p.Arg167Trp)
|
rs185479618
|
0.00002
|
|
NM_006612.6(KIF1C):c.531C>T (p.Tyr177=)
|
rs760890403
|
0.00002
|
|
NM_006612.6(KIF1C):c.697C>T (p.Leu233Phe)
|
rs1361059674
|
0.00002
|
|
NM_006702.5(PNPLA6):c.2T>C (p.Met1Thr)
|
rs765249233
|
0.00002
|
|
NM_007215.4(POLG2):c.1105A>G (p.Arg369Gly)
|
rs201936720
|
0.00002
|
|
NM_007215.4(POLG2):c.1417G>A (p.Asp473Asn)
|
rs563130304
|
0.00002
|
|
NM_007347.5(AP4E1):c.1336T>C (p.Trp446Arg)
|
rs190643886
|
0.00002
|
|
NM_007347.5(AP4E1):c.1867T>C (p.Ser623Pro)
|
rs766696884
|
0.00002
|
|
NM_012073.5(CCT5):c.*566C>T
|
rs377154717
|
0.00002
|
|
NM_012073.5(CCT5):c.1050C>T (p.Ala350=)
|
rs751586130
|
0.00002
|
|
NM_012073.5(CCT5):c.1199G>T (p.Arg400Leu)
|
rs749310473
|
0.00002
|
|
NM_012073.5(CCT5):c.1316A>C (p.Lys439Thr)
|
rs768671276
|
0.00002
|
|
NM_012073.5(CCT5):c.1378A>G (p.Met460Val)
|
rs780975626
|
0.00002
|
|
NM_012073.5(CCT5):c.1379T>C (p.Met460Thr)
|
rs376067681
|
0.00002
|
|
NM_012073.5(CCT5):c.1391A>G (p.Glu464Gly)
|
rs770386557
|
0.00002
|
|
NM_012073.5(CCT5):c.487G>A (p.Glu163Lys)
|
rs552008894
|
0.00002
|
|
NM_012073.5(CCT5):c.648C>T (p.Gly216=)
|
rs754143874
|
0.00002
|
|
NM_012073.5(CCT5):c.651C>A (p.Gly217=)
|
rs145578766
|
0.00002
|
|
NM_012073.5(CCT5):c.87G>A (p.Met29Ile)
|
rs1355138785
|
0.00002
|
|
NM_013280.5(FLRT1):c.1591G>A (p.Asp531Asn)
|
rs752014510
|
0.00002
|
|
NM_014363.6(SACS):c.11249A>G (p.Asn3750Ser)
|
rs376188585
|
0.00002
|
|
NM_014363.6(SACS):c.4814G>C (p.Ser1605Thr)
|
rs770007806
|
0.00002
|
|
NM_014363.6(SACS):c.5222C>T (p.Thr1741Ile)
|
rs201724656
|
0.00002
|
|
NM_014363.6(SACS):c.5323G>A (p.Ala1775Thr)
|
rs1002701621
|
0.00002
|
|
NM_014363.6(SACS):c.5630G>A (p.Arg1877Gln)
|
rs772866081
|
0.00002
|
|
NM_014363.6(SACS):c.7275A>G (p.Arg2425=)
|
rs761313165
|
0.00002
|
|
NM_014363.6(SACS):c.7504C>T (p.Arg2502Ter)
|
rs281865118
|
0.00002
|
|
NM_014363.6(SACS):c.7988C>T (p.Pro2663Leu)
|
rs377626385
|
0.00002
|
|
NM_014844.5(TECPR2):c.1254C>T (p.Ser418=)
|
rs755291214
|
0.00002
|
|
NM_014844.5(TECPR2):c.1270C>T (p.Pro424Ser)
|
rs770753468
|
0.00002
|
|
NM_014844.5(TECPR2):c.1334A>G (p.Asn445Ser)
|
rs758980397
|
0.00002
|
|
NM_014844.5(TECPR2):c.1372G>A (p.Val458Met)
|
rs745458532
|
0.00002
|
|
NM_014844.5(TECPR2):c.162C>T (p.Ile54=)
|
rs761145715
|
0.00002
|
|
NM_014844.5(TECPR2):c.1788A>G (p.Gly596=)
|
rs1330988861
|
0.00002
|
|
NM_014844.5(TECPR2):c.1791C>T (p.Leu597=)
|
rs757180768
|
0.00002
|
|
NM_014844.5(TECPR2):c.1825A>G (p.Asn609Asp)
|
rs1442486583
|
0.00002
|
|
NM_014844.5(TECPR2):c.2157G>A (p.Gly719=)
|
rs142899668
|
0.00002
|
|
NM_014844.5(TECPR2):c.227C>T (p.Thr76Met)
|
rs745399936
|
0.00002
|
|
NM_014844.5(TECPR2):c.2373C>T (p.Ala791=)
|
rs768578616
|
0.00002
|
|
NM_014844.5(TECPR2):c.2518G>A (p.Ala840Thr)
|
rs906936247
|
0.00002
|
|
NM_014844.5(TECPR2):c.2695C>T (p.Leu899=)
|
rs369623093
|
0.00002
|
|
NM_014844.5(TECPR2):c.2697G>A (p.Leu899=)
|
rs755040646
|
0.00002
|
|
NM_014844.5(TECPR2):c.2871G>A (p.Leu957=)
|
rs770910435
|
0.00002
|
|
NM_014844.5(TECPR2):c.2875C>T (p.Arg959Trp)
|
rs762185786
|
0.00002
|
|
NM_014844.5(TECPR2):c.2934-9T>G
|
rs956894657
|
0.00002
|
|
NM_014844.5(TECPR2):c.3000C>T (p.Asp1000=)
|
rs200626084
|
0.00002
|
|
NM_014844.5(TECPR2):c.3243C>T (p.Leu1081=)
|
rs754697484
|
0.00002
|
|
NM_014844.5(TECPR2):c.3360T>A (p.Ala1120=)
|
rs774314281
|
0.00002
|
|
NM_014844.5(TECPR2):c.348+11A>G
|
rs750080249
|
0.00002
|
|
NM_014844.5(TECPR2):c.3515G>A (p.Arg1172His)
|
rs148647252
|
0.00002
|
|
NM_014844.5(TECPR2):c.3641-7T>C
|
rs762487398
|
0.00002
|
|
NM_014844.5(TECPR2):c.3810C>T (p.Val1270=)
|
rs758917510
|
0.00002
|
|
NM_014844.5(TECPR2):c.3891C>T (p.Thr1297=)
|
rs557028665
|
0.00002
|
|
NM_014844.5(TECPR2):c.4056T>A (p.Ile1352=)
|
rs749936924
|
0.00002
|
|
NM_014844.5(TECPR2):c.4060G>A (p.Gly1354Ser)
|
rs755603975
|
0.00002
|
|
NM_014844.5(TECPR2):c.4188C>T (p.Ala1396=)
|
rs113941655
|
0.00002
|
|
NM_014844.5(TECPR2):c.786C>T (p.Ala262=)
|
rs764422441
|
0.00002
|
|
NM_014844.5(TECPR2):c.933C>T (p.Leu311=)
|
rs374689078
|
0.00002
|
|
NM_014844.5(TECPR2):c.952-6T>G
|
rs1175273131
|
0.00002
|
|
NM_014844.5(TECPR2):c.9G>A (p.Ser3=)
|
rs757589409
|
0.00002
|
|
NM_014846.4(WASHC5):c.1109A>G (p.Asn370Ser)
|
rs368495548
|
0.00002
|
|
NM_014846.4(WASHC5):c.1210C>T (p.Arg404Trp)
|
rs758878691
|
0.00002
|
|
NM_014846.4(WASHC5):c.1589T>C (p.Phe530Ser)
|
rs184557946
|
0.00002
|
|
NM_014846.4(WASHC5):c.161T>C (p.Ile54Thr)
|
rs199936194
|
0.00002
|
|
NM_014846.4(WASHC5):c.1668C>T (p.Phe556=)
|
rs199725572
|
0.00002
|
|
NM_014846.4(WASHC5):c.1669G>A (p.Ala557Thr)
|
rs749056160
|
0.00002
|
|
NM_014846.4(WASHC5):c.1689-4A>G
|
rs777297323
|
0.00002
|
|
NM_014846.4(WASHC5):c.1968G>A (p.Leu656=)
|
rs750122277
|
0.00002
|
|
NM_014846.4(WASHC5):c.2025G>A (p.Lys675=)
|
rs769221945
|
0.00002
|
|
NM_014846.4(WASHC5):c.2380-6T>C
|
rs375887732
|
0.00002
|
|
NM_014846.4(WASHC5):c.3276C>T (p.Thr1092=)
|
rs554772608
|
0.00002
|
|
NM_014846.4(WASHC5):c.3329G>A (p.Cys1110Tyr)
|
rs761053851
|
0.00002
|
|
NM_014846.4(WASHC5):c.3356C>G (p.Pro1119Arg)
|
rs202184316
|
0.00002
|
|
NM_014846.4(WASHC5):c.417+9T>C
|
rs758034244
|
0.00002
|
|
NM_014846.4(WASHC5):c.518+6C>T
|
rs1415379081
|
0.00002
|
|
NM_014846.4(WASHC5):c.625G>A (p.Glu209Lys)
|
rs565980279
|
0.00002
|
|
NM_014855.3(AP5Z1):c.*119C>A
|
rs576259662
|
0.00002
|
|
NM_014855.3(AP5Z1):c.1023C>T (p.Ser341=)
|
rs975709752
|
0.00002
|
|
NM_014855.3(AP5Z1):c.1082C>T (p.Pro361Leu)
|
rs772283887
|
0.00002
|
|
NM_014855.3(AP5Z1):c.1083G>A (p.Pro361=)
|
rs773577764
|
0.00002
|
|
NM_014855.3(AP5Z1):c.1140G>A (p.Ala380=)
|
rs766090660
|
0.00002
|
|
NM_014855.3(AP5Z1):c.117G>A (p.Pro39=)
|
rs527642993
|
0.00002
|
|
NM_014855.3(AP5Z1):c.1312-2A>G
|
rs989538601
|
0.00002
|
|
NM_014855.3(AP5Z1):c.1500C>G (p.Leu500=)
|
rs374604255
|
0.00002
|
|
NM_014855.3(AP5Z1):c.1762G>A (p.Asp588Asn)
|
rs777150652
|
0.00002
|
|
NM_014855.3(AP5Z1):c.2045C>T (p.Thr682Ile)
|
rs1272533081
|
0.00002
|
|
NM_014855.3(AP5Z1):c.2109C>A (p.Thr703=)
|
rs1244202957
|
0.00002
|
|
NM_014855.3(AP5Z1):c.2352C>A (p.Asn784Lys)
|
rs748913228
|
0.00002
|
|
NM_014855.3(AP5Z1):c.2378C>T (p.Thr793Met)
|
rs775668440
|
0.00002
|
|
NM_014855.3(AP5Z1):c.299G>A (p.Ser100Asn)
|
rs547606175
|
0.00002
|
|
NM_014855.3(AP5Z1):c.589G>A (p.Gly197Ser)
|
rs746939195
|
0.00002
|
|
NM_014855.3(AP5Z1):c.592G>A (p.Gly198Ser)
|
rs757322471
|
0.00002
|
|
NM_014855.3(AP5Z1):c.602C>T (p.Ser201Phe)
|
rs920304598
|
0.00002
|
|
NM_014855.3(AP5Z1):c.702C>T (p.Asp234=)
|
rs370728528
|
0.00002
|
|
NM_014855.3(AP5Z1):c.821T>G (p.Leu274Arg)
|
rs779893770
|
0.00002
|
|
NM_014855.3(AP5Z1):c.868C>T (p.Arg290Trp)
|
rs768595771
|
0.00002
|
|
NM_014855.3(AP5Z1):c.970-4G>A
|
rs559842146
|
0.00002
|
|
NM_014855.3(AP5Z1):c.994C>T (p.Leu332=)
|
rs1045333933
|
0.00002
|
|
NM_014946.4(SPAST):c.*157A>C
|
rs886055963
|
0.00002
|
|
NM_014946.4(SPAST):c.*1783C>T
|
rs886055977
|
0.00002
|
|
NM_014946.4(SPAST):c.101C>T (p.Pro34Leu)
|
rs771019519
|
0.00002
|
|
NM_014946.4(SPAST):c.1077T>C (p.Ile359=)
|
rs570106557
|
0.00002
|
|
NM_014946.4(SPAST):c.109G>C (p.Gly37Arg)
|
rs771455657
|
0.00002
|
|
NM_014946.4(SPAST):c.1125C>T (p.Ala375=)
|
rs62142114
|
0.00002
|
|
NM_014946.4(SPAST):c.1494-7T>C
|
rs894974418
|
0.00002
|
|
NM_014946.4(SPAST):c.1616+18G>A
|
rs977979111
|
0.00002
|
|
NM_014946.4(SPAST):c.1644C>T (p.Asp548=)
|
rs781455476
|
0.00002
|
|
NM_014946.4(SPAST):c.1742G>A (p.Arg581Gln)
|
rs749484350
|
0.00002
|
|
NM_014946.4(SPAST):c.1813A>G (p.Ile605Val)
|
rs372900676
|
0.00002
|
|
NM_014946.4(SPAST):c.222C>T (p.Leu74=)
|
rs372332499
|
0.00002
|
|
NM_014946.4(SPAST):c.315G>A (p.Pro105=)
|
rs761254257
|
0.00002
|
|
NM_014946.4(SPAST):c.631G>A (p.Val211Ile)
|
rs143003434
|
0.00002
|
|
NM_014946.4(SPAST):c.828T>C (p.Ser276=)
|
rs77525846
|
0.00002
|
|
NM_014946.4(SPAST):c.878C>T (p.Pro293Leu)
|
rs773193617
|
0.00002
|
|
NM_015087.5(SPART):c.1203C>T (p.His401=)
|
rs1385388981
|
0.00002
|
|
NM_015087.5(SPART):c.1954G>A (p.Asp652Asn)
|
rs143274967
|
0.00002
|
|
NM_015087.5(SPART):c.292G>A (p.Gly98Ser)
|
rs139744724
|
0.00002
|
|
NM_015087.5(SPART):c.340T>C (p.Tyr114His)
|
rs779539483
|
0.00002
|
|
NM_015087.5(SPART):c.815G>A (p.Cys272Tyr)
|
rs188620997
|
0.00002
|
|
NM_015214.3(DDHD2):c.1023C>T (p.Phe341=)
|
rs372428685
|
0.00002
|
|
NM_015214.3(DDHD2):c.1546C>T (p.Arg516Ter)
|
rs373856119
|
0.00002
|
|
NM_015214.3(DDHD2):c.1547G>A (p.Arg516Gln)
|
rs1475417610
|
0.00002
|
|
NM_015214.3(DDHD2):c.2080G>A (p.Val694Ile)
|
rs370808506
|
0.00002
|
|
NM_015214.3(DDHD2):c.267T>C (p.Tyr89=)
|
rs1206039082
|
0.00002
|
|
NM_015214.3(DDHD2):c.370A>G (p.Lys124Glu)
|
rs191787470
|
0.00002
|
|
NM_015214.3(DDHD2):c.375T>C (p.Tyr125=)
|
rs201640343
|
0.00002
|
|
NM_015214.3(DDHD2):c.608T>C (p.Val203Ala)
|
rs755852058
|
0.00002
|
|
NM_015214.3(DDHD2):c.688C>T (p.Arg230Cys)
|
rs764149817
|
0.00002
|
|
NM_015214.3(DDHD2):c.724C>T (p.Arg242Cys)
|
rs1380005347
|
0.00002
|
|
NM_015214.3(DDHD2):c.725G>A (p.Arg242His)
|
rs767497993
|
0.00002
|
|
NM_015214.3(DDHD2):c.902A>G (p.Asn301Ser)
|
rs749254491
|
0.00002
|
|
NM_015346.4(ZFYVE26):c.*1764A>G
|
rs1170281542
|
0.00002
|
|
NM_015346.4(ZFYVE26):c.2427C>T (p.Gly809=)
|
rs144063215
|
0.00002
|
|
NM_015346.4(ZFYVE26):c.2539G>A (p.Ala847Thr)
|
rs570114196
|
0.00002
|
|
NM_015346.4(ZFYVE26):c.274-2A>G
|
rs769329153
|
0.00002
|
|
NM_015346.4(ZFYVE26):c.308A>C (p.Glu103Ala)
|
rs750426190
|
0.00002
|
|
NM_015346.4(ZFYVE26):c.3139+2T>G
|
rs767164213
|
0.00002
|
|
NM_015346.4(ZFYVE26):c.3172C>T (p.Arg1058Trp)
|
rs200775182
|
0.00002
|
|
NM_015346.4(ZFYVE26):c.3788A>T (p.His1263Leu)
|
rs753068215
|
0.00002
|
|
NM_015346.4(ZFYVE26):c.3932G>A (p.Arg1311His)
|
rs367970314
|
0.00002
|
|
NM_015346.4(ZFYVE26):c.4072C>T (p.Arg1358Cys)
|
rs754621080
|
0.00002
|
|
NM_015346.4(ZFYVE26):c.4073G>A (p.Arg1358His)
|
rs138424288
|
0.00002
|
|
NM_015346.4(ZFYVE26):c.4804C>T (p.Arg1602Ter)
|
rs558285072
|
0.00002
|
|
NM_015346.4(ZFYVE26):c.5222-12C>G
|
rs764707646
|
0.00002
|
|
NM_015346.4(ZFYVE26):c.5791-6G>A
|
rs771906344
|
0.00002
|
|
NM_015346.4(ZFYVE26):c.592C>T (p.Arg198Ter)
|
rs200832994
|
0.00002
|
|
NM_015346.4(ZFYVE26):c.6011+7G>A
|
rs149860093
|
0.00002
|
|
NM_015346.4(ZFYVE26):c.6629C>G (p.Pro2210Arg)
|
rs776852185
|
0.00002
|
|
NM_015346.4(ZFYVE26):c.678T>C (p.Arg226=)
|
rs762577403
|
0.00002
|
|
NM_015346.4(ZFYVE26):c.6973G>A (p.Ala2325Thr)
|
rs763267244
|
0.00002
|
|
NM_015346.4(ZFYVE26):c.764G>A (p.Arg255Gln)
|
rs200023667
|
0.00002
|
|
NM_015346.4(ZFYVE26):c.805C>T (p.Arg269Trp)
|
rs778438729
|
0.00002
|
|
NM_015915.5(ATL1):c.*371T>A
|
rs937084022
|
0.00002
|
|
NM_015915.5(ATL1):c.*464C>T
|
rs1019403998
|
0.00002
|
|
NM_015915.5(ATL1):c.1047+12T>C
|
rs375882898
|
0.00002
|
|
NM_015915.5(ATL1):c.1245G>A (p.Arg415=)
|
rs979353252
|
0.00002
|
|
NM_015915.5(ATL1):c.1275A>G (p.Ile425Met)
|
rs1273371448
|
0.00002
|
|
NM_015915.5(ATL1):c.1458C>T (p.Ile486=)
|
rs200825678
|
0.00002
|
|
NM_015915.5(ATL1):c.1551+11C>G
|
rs894699234
|
0.00002
|
|
NM_015915.5(ATL1):c.1574A>G (p.Tyr525Cys)
|
rs1049367585
|
0.00002
|
|
NM_015915.5(ATL1):c.33G>C (p.Trp11Cys)
|
rs765421231
|
0.00002
|
|
NM_015915.5(ATL1):c.35-20G>T
|
rs1342373492
|
0.00002
|
|
NM_015915.5(ATL1):c.388T>C (p.Phe130Leu)
|
rs769581129
|
0.00002
|
|
NM_015915.5(ATL1):c.44C>T (p.Ser15Leu)
|
rs772206990
|
0.00002
|
|
NM_015915.5(ATL1):c.622C>T (p.Pro208Ser)
|
rs147839037
|
0.00002
|
|
NM_015915.5(ATL1):c.686C>G (p.Ala229Gly)
|
rs1454376300
|
0.00002
|
|
NM_015915.5(ATL1):c.688G>A (p.Asp230Asn)
|
rs768367744
|
0.00002
|
|
NM_015915.5(ATL1):c.701A>G (p.Lys234Arg)
|
rs371579681
|
0.00002
|
|
NM_015915.5(ATL1):c.756C>T (p.Asn252=)
|
rs771031586
|
0.00002
|
|
NM_016630.7(SPG21):c.141A>G (p.Ile47Met)
|
rs776641719
|
0.00002
|
|
NM_016630.7(SPG21):c.172G>A (p.Val58Ile)
|
rs368785512
|
0.00002
|
|
NM_016630.7(SPG21):c.367C>T (p.His123Tyr)
|
rs1344716790
|
0.00002
|
|
NM_016630.7(SPG21):c.84C>T (p.Asp28=)
|
rs151335372
|
0.00002
|
|
NM_020771.4(HACE1):c.994C>T (p.Arg332Ter)
|
rs759641985
|
0.00002
|
|
NM_020919.4(ALS2):c.2735G>A (p.Arg912His)
|
rs374156359
|
0.00002
|
|
NM_020919.4(ALS2):c.4692A>G (p.Thr1564=)
|
rs532630245
|
0.00002
|
|
NM_020919.4(ALS2):c.4831C>T (p.Arg1611Trp)
|
rs779186036
|
0.00002
|
|
NM_020944.3(GBA2):c.2548C>T (p.Arg850Cys)
|
rs752274637
|
0.00002
|
|
NM_021160.3(ABHD16A):c.353G>A (p.Arg118His)
|
rs149790845
|
0.00002
|
|
NM_021830.5(TWNK):c.1909C>T (p.Arg637Trp)
|
rs755985090
|
0.00002
|
|
NM_022089.4(ATP13A2):c.1099G>A (p.Glu367Lys)
|
rs770576740
|
0.00002
|
|
NM_022089.4(ATP13A2):c.1189C>T (p.Arg397Cys)
|
rs748309608
|
0.00002
|
|
NM_022089.4(ATP13A2):c.1196-9C>T
|
rs747077419
|
0.00002
|
|
NM_022089.4(ATP13A2):c.1307-14C>T
|
rs370771306
|
0.00002
|
|
NM_022089.4(ATP13A2):c.1321A>T (p.Ile441Phe)
|
rs772446950
|
0.00002
|
|
NM_022089.4(ATP13A2):c.1341C>T (p.Leu447=)
|
rs1032082452
|
0.00002
|
|
NM_022089.4(ATP13A2):c.1399G>A (p.Val467Met)
|
rs760443267
|
0.00002
|
|
NM_022089.4(ATP13A2):c.1442C>T (p.Thr481Met)
|
rs752000462
|
0.00002
|
|
NM_022089.4(ATP13A2):c.1633C>T (p.Arg545Cys)
|
rs750152147
|
0.00002
|
|
NM_022089.4(ATP13A2):c.1667C>T (p.Ala556Val)
|
rs760021599
|
0.00002
|
|
NM_022089.4(ATP13A2):c.1704C>T (p.Pro568=)
|
rs200868484
|
0.00002
|
|
NM_022089.4(ATP13A2):c.1831C>A (p.Gln611Lys)
|
rs770682887
|
0.00002
|
|
NM_022089.4(ATP13A2):c.1847A>C (p.Glu616Ala)
|
rs558165485
|
0.00002
|
|
NM_022089.4(ATP13A2):c.1880G>A (p.Arg627His)
|
rs756516383
|
0.00002
|
|
NM_022089.4(ATP13A2):c.1896G>A (p.Ser632=)
|
rs575694238
|
0.00002
|
|
NM_022089.4(ATP13A2):c.1900C>G (p.Leu634Val)
|
rs543531903
|
0.00002
|
|
NM_022089.4(ATP13A2):c.196C>T (p.Arg66Cys)
|
rs768327980
|
0.00002
|
|
NM_022089.4(ATP13A2):c.220C>T (p.Arg74Trp)
|
rs753087058
|
0.00002
|
|
NM_022089.4(ATP13A2):c.221G>A (p.Arg74Gln)
|
rs767725094
|
0.00002
|
|
NM_022089.4(ATP13A2):c.2251+6A>C
|
rs773458244
|
0.00002
|
|
NM_022089.4(ATP13A2):c.2285G>A (p.Arg762Gln)
|
rs766899425
|
0.00002
|
|
NM_022089.4(ATP13A2):c.2368G>A (p.Glu790Lys)
|
rs754208001
|
0.00002
|
|
NM_022089.4(ATP13A2):c.244C>T (p.Leu82=)
|
rs761558105
|
0.00002
|
|
NM_022089.4(ATP13A2):c.2634C>T (p.Asp878=)
|
rs556418739
|
0.00002
|
|
NM_022089.4(ATP13A2):c.2723C>T (p.Ser908Leu)
|
rs763069105
|
0.00002
|
|
NM_022089.4(ATP13A2):c.2797G>A (p.Val933Ile)
|
rs370356637
|
0.00002
|
|
NM_022089.4(ATP13A2):c.3001G>A (p.Val1001Met)
|
rs749677780
|
0.00002
|
|
NM_022089.4(ATP13A2):c.3218G>A (p.Arg1073Gln)
|
rs747907490
|
0.00002
|
|
NM_022089.4(ATP13A2):c.3405+10G>A
|
rs375485447
|
0.00002
|
|
NM_022089.4(ATP13A2):c.3458G>A (p.Arg1153Gln)
|
rs772666861
|
0.00002
|
|
NM_022089.4(ATP13A2):c.395C>T (p.Ala132Val)
|
rs764125787
|
0.00002
|
|
NM_022089.4(ATP13A2):c.490C>T (p.Arg164Trp)
|
rs199624796
|
0.00002
|
|
NM_022089.4(ATP13A2):c.518A>G (p.Tyr173Cys)
|
rs376963085
|
0.00002
|
|
NM_022089.4(ATP13A2):c.585C>T (p.Asp195=)
|
rs765706877
|
0.00002
|
|
NM_022089.4(ATP13A2):c.595C>T (p.Arg199Cys)
|
rs754074592
|
0.00002
|
|
NM_022089.4(ATP13A2):c.656A>G (p.Asn219Ser)
|
rs776406555
|
0.00002
|
|
NM_022089.4(ATP13A2):c.777C>T (p.Tyr259=)
|
rs780133367
|
0.00002
|
|
NM_022089.4(ATP13A2):c.878T>C (p.Met293Thr)
|
rs772414750
|
0.00002
|
|
NM_022089.4(ATP13A2):c.889G>A (p.Val297Met)
|
rs771174890
|
0.00002
|
|
NM_022089.4(ATP13A2):c.975G>A (p.Gly325=)
|
rs915404570
|
0.00002
|
|
NM_024306.4(FA2H):c.-74C>T
|
rs886052292
|
0.00002
|
|
NM_024306.5(FA2H):c.*447C>T
|
rs574506095
|
0.00002
|
|
NM_024306.5(FA2H):c.*887T>A
|
rs886052285
|
0.00002
|
|
NM_024306.5(FA2H):c.565C>T (p.Arg189Ter)
|
rs765086319
|
0.00002
|
|
NM_024306.5(FA2H):c.599C>T (p.Thr200Met)
|
rs139261750
|
0.00002
|
|
NM_024306.5(FA2H):c.771C>T (p.His257=)
|
rs371293493
|
0.00002
|
|
NM_024306.5(FA2H):c.772G>A (p.Gly258Ser)
|
rs774693133
|
0.00002
|
|
NM_024989.4(PGAP1):c.2174T>A (p.Ile725Asn)
|
rs758283563
|
0.00002
|
|
NM_025137.4(SPG11):c.1178A>G (p.His393Arg)
|
rs144038708
|
0.00002
|
|
NM_025137.4(SPG11):c.1182G>A (p.Gly394=)
|
rs199968487
|
0.00002
|
|
NM_025137.4(SPG11):c.1214A>C (p.Lys405Thr)
|
rs756326438
|
0.00002
|
|
NM_025137.4(SPG11):c.1269A>G (p.Glu423=)
|
rs776092174
|
0.00002
|
|
NM_025137.4(SPG11):c.1619G>A (p.Arg540His)
|
rs750200448
|
0.00002
|
|
NM_025137.4(SPG11):c.1689T>G (p.Ser563=)
|
rs748537508
|
0.00002
|
|
NM_025137.4(SPG11):c.1736-18T>G
|
rs771518380
|
0.00002
|
|
NM_025137.4(SPG11):c.176C>T (p.Ala59Val)
|
rs552320263
|
0.00002
|
|
NM_025137.4(SPG11):c.1951C>T (p.Arg651Ter)
|
rs199588440
|
0.00002
|
|
NM_025137.4(SPG11):c.1965A>T (p.Ile655=)
|
rs146415287
|
0.00002
|
|
NM_025137.4(SPG11):c.2008G>A (p.Val670Ile)
|
rs761249365
|
0.00002
|
|
NM_025137.4(SPG11):c.2039G>T (p.Ser680Ile)
|
rs745860301
|
0.00002
|
|
NM_025137.4(SPG11):c.206C>T (p.Thr69Met)
|
rs764422997
|
0.00002
|
|
NM_025137.4(SPG11):c.2145T>C (p.Ala715=)
|
rs761155521
|
0.00002
|
|
NM_025137.4(SPG11):c.2228A>G (p.Glu743Gly)
|
rs199617257
|
0.00002
|
|
NM_025137.4(SPG11):c.2280C>T (p.Cys760=)
|
rs567932275
|
0.00002
|
|
NM_025137.4(SPG11):c.2285A>G (p.Tyr762Cys)
|
rs747681565
|
0.00002
|
|
NM_025137.4(SPG11):c.2299A>G (p.Asn767Asp)
|
rs370774571
|
0.00002
|
|
NM_025137.4(SPG11):c.2306G>A (p.Arg769His)
|
rs368151745
|
0.00002
|
|
NM_025137.4(SPG11):c.2317-13C>G
|
rs372670941
|
0.00002
|
|
NM_025137.4(SPG11):c.2444+13G>C
|
rs1347072799
|
0.00002
|
|
NM_025137.4(SPG11):c.2561C>T (p.Ala854Val)
|
rs758923470
|
0.00002
|
|
NM_025137.4(SPG11):c.258-2A>C
|
rs781665076
|
0.00002
|
|
NM_025137.4(SPG11):c.2621-12T>G
|
rs775433435
|
0.00002
|
|
NM_025137.4(SPG11):c.2767G>C (p.Asp923His)
|
rs910680613
|
0.00002
|
|
NM_025137.4(SPG11):c.2768A>G (p.Asp923Gly)
|
rs772514266
|
0.00002
|
|
NM_025137.4(SPG11):c.2834+6A>G
|
rs766369623
|
0.00002
|
|
NM_025137.4(SPG11):c.3095C>T (p.Pro1032Leu)
|
rs141106870
|
0.00002
|
|
NM_025137.4(SPG11):c.3145+11A>C
|
rs750642025
|
0.00002
|
|
NM_025137.4(SPG11):c.3146-6T>G
|
rs777849932
|
0.00002
|
|
NM_025137.4(SPG11):c.3291+9A>G
|
rs769740604
|
0.00002
|
|
NM_025137.4(SPG11):c.329A>G (p.Asn110Ser)
|
rs200665034
|
0.00002
|
|
NM_025137.4(SPG11):c.3394C>T (p.Pro1132Ser)
|
rs891639488
|
0.00002
|
|
NM_025137.4(SPG11):c.3687-11T>G
|
rs967897890
|
0.00002
|
|
NM_025137.4(SPG11):c.4041G>A (p.Val1347=)
|
rs377066151
|
0.00002
|
|
NM_025137.4(SPG11):c.411A>G (p.Ala137=)
|
rs1438909897
|
0.00002
|
|
NM_025137.4(SPG11):c.4122C>T (p.Phe1374=)
|
rs1194478318
|
0.00002
|
|
NM_025137.4(SPG11):c.4435-8C>T
|
rs745830340
|
0.00002
|
|
NM_025137.4(SPG11):c.443G>A (p.Ser148Asn)
|
rs141990871
|
0.00002
|
|
NM_025137.4(SPG11):c.4643C>T (p.Pro1548Leu)
|
rs368706788
|
0.00002
|
|
NM_025137.4(SPG11):c.4746_4747insTG (p.Asn1583Ter)
|
rs764186203
|
0.00002
|
|
NM_025137.4(SPG11):c.4798G>A (p.Asp1600Asn)
|
rs770380861
|
0.00002
|
|
NM_025137.4(SPG11):c.483T>C (p.Asn161=)
|
rs772205877
|
0.00002
|
|
NM_025137.4(SPG11):c.4940A>G (p.Gln1647Arg)
|
rs1326184542
|
0.00002
|
|
NM_025137.4(SPG11):c.5040G>T (p.Leu1680=)
|
rs748057725
|
0.00002
|
|
NM_025137.4(SPG11):c.5074G>A (p.Val1692Ile)
|
rs764497276
|
0.00002
|
|
NM_025137.4(SPG11):c.5120A>G (p.Glu1707Gly)
|
rs747956329
|
0.00002
|
|
NM_025137.4(SPG11):c.5201G>T (p.Cys1734Phe)
|
rs780601824
|
0.00002
|
|
NM_025137.4(SPG11):c.5223T>C (p.Asn1741=)
|
rs202244309
|
0.00002
|
|
NM_025137.4(SPG11):c.5407C>T (p.Leu1803=)
|
rs200102584
|
0.00002
|
|
NM_025137.4(SPG11):c.5623C>T (p.Gln1875Ter)
|
rs141848292
|
0.00002
|
|
NM_025137.4(SPG11):c.5635A>C (p.Asn1879His)
|
rs759595222
|
0.00002
|
|
NM_025137.4(SPG11):c.5696G>A (p.Arg1899Gln)
|
rs768303307
|
0.00002
|
|
NM_025137.4(SPG11):c.5724C>T (p.Val1908=)
|
rs369869911
|
0.00002
|
|
NM_025137.4(SPG11):c.5790G>T (p.Glu1930Asp)
|
rs972738967
|
0.00002
|
|
NM_025137.4(SPG11):c.5839G>A (p.Asp1947Asn)
|
rs751801619
|
0.00002
|
|
NM_025137.4(SPG11):c.5907C>T (p.Ser1969=)
|
rs759132764
|
0.00002
|
|
NM_025137.4(SPG11):c.6013G>A (p.Gly2005Ser)
|
rs776764189
|
0.00002
|
|
NM_025137.4(SPG11):c.617C>T (p.Thr206Met)
|
rs763340583
|
0.00002
|
|
NM_025137.4(SPG11):c.6205+14C>T
|
rs766366279
|
0.00002
|
|
NM_025137.4(SPG11):c.6250C>T (p.Leu2084Phe)
|
rs754874642
|
0.00002
|
|
NM_025137.4(SPG11):c.6277C>T (p.Arg2093Cys)
|
rs772336846
|
0.00002
|
|
NM_025137.4(SPG11):c.6497T>C (p.Ile2166Thr)
|
rs199873327
|
0.00002
|
|
NM_025137.4(SPG11):c.6502A>G (p.Arg2168Gly)
|
rs371301157
|
0.00002
|
|
NM_025137.4(SPG11):c.6539A>T (p.His2180Leu)
|
rs1470051584
|
0.00002
|
|
NM_025137.4(SPG11):c.6561G>A (p.Val2187=)
|
rs376951822
|
0.00002
|
|
NM_025137.4(SPG11):c.668-12T>A
|
rs373742527
|
0.00002
|
|
NM_025137.4(SPG11):c.6719G>A (p.Arg2240His)
|
rs766384717
|
0.00002
|
|
NM_025137.4(SPG11):c.6736A>G (p.Ile2246Val)
|
rs770110397
|
0.00002
|
|
NM_025137.4(SPG11):c.6737T>C (p.Ile2246Thr)
|
rs762209905
|
0.00002
|
|
NM_025137.4(SPG11):c.6738T>G (p.Ile2246Met)
|
rs776998679
|
0.00002
|
|
NM_025137.4(SPG11):c.6810T>C (p.Thr2270=)
|
rs750460016
|
0.00002
|
|
NM_025137.4(SPG11):c.6844-19C>G
|
rs539232104
|
0.00002
|
|
NM_025137.4(SPG11):c.6953G>A (p.Arg2318His)
|
rs768408465
|
0.00002
|
|
NM_025137.4(SPG11):c.7013C>T (p.Ala2338Val)
|
rs368902742
|
0.00002
|
|
NM_025137.4(SPG11):c.7034C>T (p.Pro2345Leu)
|
rs748206574
|
0.00002
|
|
NM_025137.4(SPG11):c.704_705del (p.His235fs)
|
rs312262719
|
0.00002
|
|
NM_025137.4(SPG11):c.7092G>A (p.Leu2364=)
|
rs1312904222
|
0.00002
|
|
NM_025137.4(SPG11):c.7177A>T (p.Met2393Leu)
|
rs888840813
|
0.00002
|
|
NM_025137.4(SPG11):c.7212T>C (p.Tyr2404=)
|
rs1288255586
|
0.00002
|
|
NM_025137.4(SPG11):c.732C>T (p.Asp244=)
|
rs745572647
|
0.00002
|
|
NM_025137.4(SPG11):c.737G>A (p.Cys246Tyr)
|
rs376828731
|
0.00002
|
|
NM_025137.4(SPG11):c.756G>A (p.Glu252=)
|
rs762704140
|
0.00002
|
|
NM_025137.4(SPG11):c.820G>A (p.Val274Ile)
|
rs543316224
|
0.00002
|
|
NM_025137.4(SPG11):c.837C>T (p.Ser279=)
|
rs563928976
|
0.00002
|
|
NM_025137.4(SPG11):c.891G>A (p.Leu297=)
|
rs765967405
|
0.00002
|
|
NM_025137.4(SPG11):c.968A>G (p.Tyr323Cys)
|
rs190718076
|
0.00002
|
|
NM_031448.6(C19orf12):c.124G>A (p.Gly42Arg)
|
rs200133991
|
0.00002
|
|
NM_031448.6(C19orf12):c.312C>T (p.Ala104=)
|
rs749962129
|
0.00002
|
|
NM_031448.6(C19orf12):c.400C>T (p.Arg134Trp)
|
rs1176245027
|
0.00002
|
|
NM_144599.5(NIPA1):c.*4156A>G
|
rs577403895
|
0.00002
|
|
NM_144599.5(NIPA1):c.*519T>A
|
rs560426753
|
0.00002
|
|
NM_144599.5(NIPA1):c.263C>T (p.Thr88Met)
|
rs755718518
|
0.00002
|
|
NM_144599.5(NIPA1):c.856G>A (p.Val286Met)
|
rs531256830
|
0.00002
|
|
NM_144599.5(NIPA1):c.871T>C (p.Phe291Leu)
|
rs779693743
|
0.00002
|
|
NM_152415.3(VPS37A):c.162G>A (p.Leu54=)
|
rs753795332
|
0.00002
|
|
NM_152415.3(VPS37A):c.398C>G (p.Thr133Ser)
|
rs757735101
|
0.00002
|
|
NM_152415.3(VPS37A):c.421T>C (p.Tyr141His)
|
rs753491148
|
0.00002
|
|
NM_152415.3(VPS37A):c.802G>A (p.Asp268Asn)
|
rs574438273
|
0.00002
|
|
NM_152415.3(VPS37A):c.812A>G (p.Asp271Gly)
|
rs768941323
|
0.00002
|
|
NM_183075.3(CYP2U1):c.1253C>T (p.Pro418Leu)
|
rs201629689
|
0.00002
|
|
NM_183075.3(CYP2U1):c.719G>A (p.Arg240His)
|
rs145638445
|
0.00002
|
|
NM_000215.4(JAK3):c.970G>A (p.Asp324Asn)
|
rs1446786243
|
0.00001
|
|
NM_000533.5(PLP1):c.15G>A (p.Glu5=)
|
rs753140839
|
0.00001
|
|
NM_000533.5(PLP1):c.18C>T (p.Cys6=)
|
rs151116667
|
0.00001
|
|
NM_000533.5(PLP1):c.306C>T (p.Gly102=)
|
rs1315109043
|
0.00001
|
|
NM_000533.5(PLP1):c.318C>T (p.Thr106=)
|
rs973903346
|
0.00001
|
|
NM_000533.5(PLP1):c.328G>A (p.Gly110Ser)
|
rs1283059062
|
0.00001
|
|
NM_000533.5(PLP1):c.342C>T (p.Ser114=)
|
rs756334357
|
0.00001
|
|
NM_000533.5(PLP1):c.347C>T (p.Thr116Met)
|
rs749278720
|
0.00001
|
|
NM_000533.5(PLP1):c.35T>C (p.Val12Ala)
|
rs1049312344
|
0.00001
|
|
NM_000533.5(PLP1):c.594C>A (p.Gly198=)
|
rs757600628
|
0.00001
|
|
NM_000533.5(PLP1):c.606T>C (p.Ala202=)
|
rs748894669
|
0.00001
|
|
NM_000533.5(PLP1):c.622+14C>T
|
rs188734237
|
0.00001
|
|
NM_000533.5(PLP1):c.622+15G>A
|
rs886038308
|
0.00001
|
|
NM_000533.5(PLP1):c.696+8G>T
|
rs902326390
|
0.00001
|
|
NM_000533.5(PLP1):c.763-3C>T
|
rs774443520
|
0.00001
|
|
NM_001002755.4(NFU1):c.398T>C (p.Leu133Pro)
|
rs770896590
|
0.00001
|
|
NM_001010867.4(IBA57):c.190C>A (p.Pro64Thr)
|
rs755628436
|
0.00001
|
|
NM_001010867.4(IBA57):c.206T>C (p.Phe69Ser)
|
rs778284446
|
0.00001
|
|
NM_001010867.4(IBA57):c.227A>G (p.Asn76Ser)
|
rs1168294957
|
0.00001
|
|
NM_001010867.4(IBA57):c.262G>A (p.Ala88Thr)
|
rs1186238890
|
0.00001
|
|
NM_001010867.4(IBA57):c.266C>T (p.Pro89Leu)
|
rs1191467500
|
0.00001
|
|
NM_001010867.4(IBA57):c.313C>T (p.Arg105Trp)
|
rs1298056442
|
0.00001
|
|
NM_001010867.4(IBA57):c.335T>G (p.Leu112Trp)
|
rs775646159
|
0.00001
|
|
NM_001010867.4(IBA57):c.471G>A (p.Leu157=)
|
rs540662509
|
0.00001
|
|
NM_001010867.4(IBA57):c.566C>T (p.Pro189Leu)
|
rs1403342810
|
0.00001
|
|
NM_001010867.4(IBA57):c.577C>T (p.Arg193Cys)
|
rs1324456932
|
0.00001
|
|
NM_001010867.4(IBA57):c.589C>T (p.Arg197Trp)
|
rs368114681
|
0.00001
|
|
NM_001010867.4(IBA57):c.639C>T (p.Leu213=)
|
rs751616087
|
0.00001
|
|
NM_001010867.4(IBA57):c.706C>G (p.Pro236Ala)
|
rs769063859
|
0.00001
|
|
NM_001010867.4(IBA57):c.826C>T (p.Arg276Cys)
|
rs143575106
|
0.00001
|
|
NM_001010867.4(IBA57):c.827G>A (p.Arg276His)
|
rs1245306816
|
0.00001
|
|
NM_001010867.4(IBA57):c.85T>G (p.Cys29Gly)
|
rs951070079
|
0.00001
|
|
NM_001010867.4(IBA57):c.955C>T (p.Leu319=)
|
rs186655921
|
0.00001
|
|
NM_001122955.4(BSCL2):c.1004A>C (p.Gln335Pro)
|
rs779199750
|
0.00001
|
|
NM_001122955.4(BSCL2):c.1022G>A (p.Arg341Lys)
|
rs144725547
|
0.00001
|
|
NM_001122955.4(BSCL2):c.1033C>T (p.Arg345Trp)
|
rs767820877
|
0.00001
|
|
NM_001122955.4(BSCL2):c.1049G>A (p.Arg350Gln)
|
rs749917957
|
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.1234+6G>A
|
rs762726296
|
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.214C>G (p.Pro72Ala)
|
rs2083513120
|
0.00001
|
|
NM_001122955.4(BSCL2):c.257G>A (p.Gly86Asp)
|
rs772832629
|
0.00001
|
|
NM_001122955.4(BSCL2):c.270G>T (p.Arg90Ser)
|
rs756668260
|
0.00001
|
|
NM_001122955.4(BSCL2):c.461C>T (p.Ser154Leu)
|
rs137852973
|
0.00001
|
|
NM_001122955.4(BSCL2):c.466A>G (p.Thr156Ala)
|
rs137930278
|
0.00001
|
|
NM_001122955.4(BSCL2):c.486+1G>A
|
rs1011200048
|
0.00001
|
|
NM_001122955.4(BSCL2):c.507G>A (p.Pro169=)
|
rs145393127
|
0.00001
|
|
NM_001122955.4(BSCL2):c.517dup (p.Thr173fs)
|
rs786205071
|
0.00001
|
|
NM_001122955.4(BSCL2):c.629C>T (p.Ser210Leu)
|
rs778486956
|
0.00001
|
|
NM_001122955.4(BSCL2):c.826G>C (p.Ala276Pro)
|
rs137852971
|
0.00001
|
|
NM_001122955.4(BSCL2):c.933C>T (p.Ser311=)
|
rs748195771
|
0.00001
|
|
NM_001128126.3(AP4S1):c.306+4251G>C
|
rs1226099981
|
0.00001
|
|
NM_001128126.3(AP4S1):c.306+4281A>G
|
rs1228214819
|
0.00001
|
|
NM_001160148.2(DDHD1):c.1010A>T (p.Asp337Val)
|
rs139853377
|
0.00001
|
|
NM_001160148.2(DDHD1):c.1012+635G>A
|
rs1887427543
|
0.00001
|
|
NM_001160148.2(DDHD1):c.1013C>T (p.Ala338Val)
|
rs767815843
|
0.00001
|
|
NM_001160148.2(DDHD1):c.1014T>C (p.Ala338=)
|
rs542200589
|
0.00001
|
|
NM_001160148.2(DDHD1):c.1161A>G (p.Arg387=)
|
rs1312004804
|
0.00001
|
|
NM_001160148.2(DDHD1):c.1290-5T>C
|
rs767317061
|
0.00001
|
|
NM_001160148.2(DDHD1):c.1321A>G (p.Arg441Gly)
|
rs766121321
|
0.00001
|
|
NM_001160148.2(DDHD1):c.1323G>A (p.Arg441=)
|
rs377387241
|
0.00001
|
|
NM_001160148.2(DDHD1):c.1334A>G (p.Asn445Ser)
|
rs772863841
|
0.00001
|
|
NM_001160148.2(DDHD1):c.1357C>T (p.Leu453=)
|
rs761376814
|
0.00001
|
|
NM_001160148.2(DDHD1):c.1503+5G>C
|
rs370071581
|
0.00001
|
|
NM_001160148.2(DDHD1):c.1539G>A (p.Leu513=)
|
rs767424223
|
0.00001
|
|
NM_001160148.2(DDHD1):c.1553G>T (p.Cys518Phe)
|
rs1291109043
|
0.00001
|
|
NM_001160148.2(DDHD1):c.1597A>G (p.Ile533Val)
|
rs770043699
|
0.00001
|
|
NM_001160148.2(DDHD1):c.1661G>A (p.Arg554Gln)
|
rs755789866
|
0.00001
|
|
NM_001160148.2(DDHD1):c.1677G>A (p.Leu559=)
|
rs751528984
|
0.00001
|
|
NM_001160148.2(DDHD1):c.1679T>C (p.Leu560Pro)
|
rs1060502166
|
0.00001
|
|
NM_001160148.2(DDHD1):c.1713G>T (p.Trp571Cys)
|
rs1402569521
|
0.00001
|
|
NM_001160148.2(DDHD1):c.1742A>G (p.Asp581Gly)
|
rs746305110
|
0.00001
|
|
NM_001160148.2(DDHD1):c.1763G>A (p.Arg588Gln)
|
rs746508736
|
0.00001
|
|
NM_001160148.2(DDHD1):c.1778T>C (p.Ile593Thr)
|
rs534395173
|
0.00001
|
|
NM_001160148.2(DDHD1):c.1794C>T (p.His598=)
|
rs752148702
|
0.00001
|
|
NM_001160148.2(DDHD1):c.181G>C (p.Gly61Arg)
|
rs568294049
|
0.00001
|
|
NM_001160148.2(DDHD1):c.184G>A (p.Glu62Lys)
|
rs1370611484
|
0.00001
|
|
NM_001160148.2(DDHD1):c.1893G>A (p.Leu631=)
|
rs773742131
|
0.00001
|
|
NM_001160148.2(DDHD1):c.1905C>G (p.Arg635=)
|
rs780940236
|
0.00001
|
|
NM_001160148.2(DDHD1):c.1910G>C (p.Gly637Ala)
|
rs1437541554
|
0.00001
|
|
NM_001160148.2(DDHD1):c.1931A>G (p.His644Arg)
|
rs754424163
|
0.00001
|
|
NM_001160148.2(DDHD1):c.1936T>C (p.Leu646=)
|
rs1883264882
|
0.00001
|
|
NM_001160148.2(DDHD1):c.1992+13A>G
|
rs1241199136
|
0.00001
|
|
NM_001160148.2(DDHD1):c.2160C>T (p.Thr720=)
|
rs377049663
|
0.00001
|
|
NM_001160148.2(DDHD1):c.2247G>T (p.Gly749=)
|
rs1882884228
|
0.00001
|
|
NM_001160148.2(DDHD1):c.2279T>C (p.Met760Thr)
|
rs375381564
|
0.00001
|
|
NM_001160148.2(DDHD1):c.2358G>A (p.Lys786=)
|
rs759300334
|
0.00001
|
|
NM_001160148.2(DDHD1):c.2437+9A>C
|
rs754826324
|
0.00001
|
|
NM_001160148.2(DDHD1):c.2604T>C (p.Thr868=)
|
rs1339243582
|
0.00001
|
|
NM_001160148.2(DDHD1):c.2649C>T (p.Phe883=)
|
rs374202355
|
0.00001
|
|
NM_001160148.2(DDHD1):c.293C>T (p.Ser98Phe)
|
rs907706877
|
0.00001
|
|
NM_001160148.2(DDHD1):c.300G>T (p.Leu100=)
|
rs764049438
|
0.00001
|
|
NM_001160148.2(DDHD1):c.319G>A (p.Glu107Lys)
|
rs770313412
|
0.00001
|
|
NM_001160148.2(DDHD1):c.424G>A (p.Glu142Lys)
|
rs1451425803
|
0.00001
|
|
NM_001160148.2(DDHD1):c.429G>A (p.Arg143=)
|
rs561174238
|
0.00001
|
|
NM_001160148.2(DDHD1):c.455C>T (p.Ala152Val)
|
rs1274664920
|
0.00001
|
|
NM_001160148.2(DDHD1):c.578C>T (p.Ala193Val)
|
rs1268767392
|
0.00001
|
|
NM_001160148.2(DDHD1):c.5A>G (p.Asn2Ser)
|
rs1244792265
|
0.00001
|
|
NM_001160148.2(DDHD1):c.764A>G (p.Glu255Gly)
|
rs1173445982
|
0.00001
|
|
NM_001160148.2(DDHD1):c.831C>T (p.Tyr277=)
|
rs368725055
|
0.00001
|
|
NM_001160148.2(DDHD1):c.838+15G>A
|
rs762784960
|
0.00001
|
|
NM_001160148.2(DDHD1):c.839-7T>A
|
rs561534404
|
0.00001
|
|
NM_001160148.2(DDHD1):c.863G>A (p.Arg288His)
|
rs904259357
|
0.00001
|
|
NM_001166114.2(PNPLA6):c.*8G>A
|
rs561526950
|
0.00001
|
|
NM_001166114.2(PNPLA6):c.1002C>T (p.Ser334=)
|
rs747703454
|
0.00001
|
|
NM_001166114.2(PNPLA6):c.1005+8G>A
|
rs368417668
|
0.00001
|
|
NM_001166114.2(PNPLA6):c.1038C>T (p.Pro346=)
|
rs1173980380
|
0.00001
|
|
NM_001166114.2(PNPLA6):c.1060C>G (p.Pro354Ala)
|
rs1309856946
|
0.00001
|
|
NM_001166114.2(PNPLA6):c.1069G>A (p.Gly357Ser)
|
rs753225629
|
0.00001
|
|
NM_001166114.2(PNPLA6):c.1079G>A (p.Arg360Lys)
|
rs948393107
|
0.00001
|
|
NM_001166114.2(PNPLA6):c.1124G>A (p.Gly375Glu)
|
rs1163920380
|
0.00001
|
|
NM_001166114.2(PNPLA6):c.1135G>A (p.Asp379Asn)
|
rs1372004040
|
0.00001
|
|
NM_001166114.2(PNPLA6):c.1143C>T (p.Thr381=)
|
rs763107646
|
0.00001
|
|
NM_001166114.2(PNPLA6):c.1147G>A (p.Ala383Thr)
|
rs774683671
|
0.00001
|
|
NM_001166114.2(PNPLA6):c.1200C>A (p.Thr400=)
|
rs929650463
|
0.00001
|
|
NM_001166114.2(PNPLA6):c.1203C>A (p.Pro401=)
|
rs546470199
|
0.00001
|
|
NM_001166114.2(PNPLA6):c.1212T>C (p.Pro404=)
|
rs748049105
|
0.00001
|
|
NM_001166114.2(PNPLA6):c.1213C>T (p.Leu405=)
|
rs900654242
|
0.00001
|
|
NM_001166114.2(PNPLA6):c.1221C>T (p.Ser407=)
|
rs1490391922
|
0.00001
|
|
NM_001166114.2(PNPLA6):c.1227C>T (p.Cys409=)
|
rs1032668743
|
0.00001
|
|
NM_001166114.2(PNPLA6):c.1253-9T>C
|
rs780231524
|
0.00001
|
|
NM_001166114.2(PNPLA6):c.1290C>T (p.Ala430=)
|
rs763990023
|
0.00001
|
|
NM_001166114.2(PNPLA6):c.1304G>A (p.Arg435Gln)
|
rs376174058
|
0.00001
|
|
NM_001166114.2(PNPLA6):c.131C>T (p.Pro44Leu)
|
rs372169542
|
0.00001
|
|
NM_001166114.2(PNPLA6):c.1323G>A (p.Gln441=)
|
rs17854646
|
0.00001
|
|
NM_001166114.2(PNPLA6):c.1336G>C (p.Gly446Arg)
|
rs573529919
|
0.00001
|
|
NM_001166114.2(PNPLA6):c.1361G>A (p.Arg454Gln)
|
rs370626406
|
0.00001
|
|
NM_001166114.2(PNPLA6):c.1378C>T (p.Pro460Ser)
|
rs757610420
|
0.00001
|
|
NM_001166114.2(PNPLA6):c.1456C>A (p.Pro486Thr)
|
rs1055816694
|
0.00001
|
|
NM_001166114.2(PNPLA6):c.148C>T (p.Leu50Phe)
|
rs770929257
|
0.00001
|
|
NM_001166114.2(PNPLA6):c.1523G>A (p.Arg508Gln)
|
rs370094298
|
0.00001
|
|
NM_001166114.2(PNPLA6):c.1530+16G>T
|
rs955181846
|
0.00001
|
|
NM_001166114.2(PNPLA6):c.1531-14C>T
|
rs531317475
|
0.00001
|
|
NM_001166114.2(PNPLA6):c.1537T>G (p.Ser513Ala)
|
rs1306308836
|
0.00001
|
|
NM_001166114.2(PNPLA6):c.1538C>T (p.Ser513Phe)
|
rs1351660925
|
0.00001
|
|
NM_001166114.2(PNPLA6):c.1554A>G (p.Arg518=)
|
rs201805444
|
0.00001
|
|
NM_001166114.2(PNPLA6):c.1569C>T (p.His523=)
|
rs753311777
|
0.00001
|
|
NM_001166114.2(PNPLA6):c.1570G>A (p.Ala524Thr)
|
rs763642095
|
0.00001
|
|
NM_001166114.2(PNPLA6):c.1593C>T (p.Ala531=)
|
rs778704836
|
0.00001
|
|
NM_001166114.2(PNPLA6):c.1595G>A (p.Arg532His)
|
rs374297942
|
0.00001
|
|
NM_001166114.2(PNPLA6):c.1621C>T (p.His541Tyr)
|
rs1050752297
|
0.00001
|
|
NM_001166114.2(PNPLA6):c.1647C>T (p.His549=)
|
rs1203825341
|
0.00001
|
|
NM_001166114.2(PNPLA6):c.1686C>T (p.Cys562=)
|
rs1376335368
|
0.00001
|
|
NM_001166114.2(PNPLA6):c.1696G>A (p.Ala566Thr)
|
rs200855333
|
0.00001
|
|
NM_001166114.2(PNPLA6):c.1707G>A (p.Gly569=)
|
rs369854428
|
0.00001
|
|
NM_001166114.2(PNPLA6):c.1734C>T (p.Leu578=)
|
rs1485048132
|
0.00001
|
|
NM_001166114.2(PNPLA6):c.1740C>T (p.Gly580=)
|
rs752720134
|
0.00001
|
|
NM_001166114.2(PNPLA6):c.1759C>G (p.Leu587Val)
|
rs757260835
|
0.00001
|
|
NM_001166114.2(PNPLA6):c.1794C>T (p.Ile598=)
|
rs769141895
|
0.00001
|
|
NM_001166114.2(PNPLA6):c.1853C>T (p.Ala618Val)
|
rs568356836
|
0.00001
|
|
NM_001166114.2(PNPLA6):c.186C>G (p.Val62=)
|
rs759997114
|
0.00001
|
|
NM_001166114.2(PNPLA6):c.1876T>G (p.Ser626Ala)
|
rs1484050135
|
0.00001
|
|
NM_001166114.2(PNPLA6):c.1946+17G>A
|
rs745446485
|
0.00001
|
|
NM_001166114.2(PNPLA6):c.1947-10G>T
|
rs1442071919
|
0.00001
|
|
NM_001166114.2(PNPLA6):c.1947-4T>A
|
rs1345358439
|
0.00001
|
|
NM_001166114.2(PNPLA6):c.2001C>T (p.Ser667=)
|
rs2023599428
|
0.00001
|
|
NM_001166114.2(PNPLA6):c.2016del (p.Ser673fs)
|
rs765221332
|
0.00001
|
|
NM_001166114.2(PNPLA6):c.2071-11C>G
|
rs1473177184
|
0.00001
|
|
NM_001166114.2(PNPLA6):c.2107G>T (p.Val703Leu)
|
rs979155811
|
0.00001
|
|
NM_001166114.2(PNPLA6):c.2112C>T (p.His704=)
|
rs539949077
|
0.00001
|
|
NM_001166114.2(PNPLA6):c.2115G>C (p.Ala705=)
|
rs769646919
|
0.00001
|
|
NM_001166114.2(PNPLA6):c.2127G>A (p.Thr709=)
|
rs2023621489
|
0.00001
|
|
NM_001166114.2(PNPLA6):c.2148G>T (p.Glu716Asp)
|
rs1425497937
|
0.00001
|
|
NM_001166114.2(PNPLA6):c.216G>C (p.Arg72=)
|
rs745769028
|
0.00001
|
|
NM_001166114.2(PNPLA6):c.2184+4C>T
|
rs569845262
|
0.00001
|
|
NM_001166114.2(PNPLA6):c.2260+18C>T
|
rs1211653962
|
0.00001
|
|
NM_001166114.2(PNPLA6):c.226G>A (p.Val76Met)
|
rs749575421
|
0.00001
|
|
NM_001166114.2(PNPLA6):c.2277G>A (p.Val759=)
|
rs1030480370
|
0.00001
|
|
NM_001166114.2(PNPLA6):c.2329A>G (p.Ile777Val)
|
rs752227045
|
0.00001
|
|
NM_001166114.2(PNPLA6):c.233-13C>G
|
rs1286099101
|
0.00001
|
|
NM_001166114.2(PNPLA6):c.233-15C>T
|
rs1320951446
|
0.00001
|
|
NM_001166114.2(PNPLA6):c.233-8A>G
|
rs369490744
|
0.00001
|
|
NM_001166114.2(PNPLA6):c.2344G>A (p.Ala782Thr)
|
rs1354212753
|
0.00001
|
|
NM_001166114.2(PNPLA6):c.2369C>T (p.Thr790Met)
|
rs753592836
|
0.00001
|
|
NM_001166114.2(PNPLA6):c.2370G>A (p.Thr790=)
|
rs1223839797
|
0.00001
|
|
NM_001166114.2(PNPLA6):c.238C>T (p.Pro80Ser)
|
rs772575811
|
0.00001
|
|
NM_001166114.2(PNPLA6):c.2401+6T>C
|
rs368277076
|
0.00001
|
|
NM_001166114.2(PNPLA6):c.2402-11C>A
|
rs756209420
|
0.00001
|
|
NM_001166114.2(PNPLA6):c.2409G>A (p.Thr803=)
|
rs775962215
|
0.00001
|
|
NM_001166114.2(PNPLA6):c.2440C>T (p.Arg814Cys)
|
rs531445564
|
0.00001
|
|
NM_001166114.2(PNPLA6):c.2451C>T (p.Ala817=)
|
rs1354702717
|
0.00001
|
|
NM_001166114.2(PNPLA6):c.2457A>G (p.Ala819=)
|
rs753933888
|
0.00001
|
|
NM_001166114.2(PNPLA6):c.2465+4T>C
|
rs758703848
|
0.00001
|
|
NM_001166114.2(PNPLA6):c.2466C>T (p.Ser822=)
|
rs780346245
|
0.00001
|
|
NM_001166114.2(PNPLA6):c.2503C>G (p.Gln835Glu)
|
rs1001173506
|
0.00001
|
|
NM_001166114.2(PNPLA6):c.2523C>T (p.Ile841=)
|
rs375484169
|
0.00001
|
|
NM_001166114.2(PNPLA6):c.2526A>T (p.Val842=)
|
rs534004578
|
0.00001
|
|
NM_001166114.2(PNPLA6):c.2527C>G (p.Leu843Val)
|
rs748903229
|
0.00001
|
|
NM_001166114.2(PNPLA6):c.2543C>T (p.Ala848Val)
|
rs760534400
|
0.00001
|
|
NM_001166114.2(PNPLA6):c.261T>C (p.Tyr87=)
|
rs1255862253
|
0.00001
|
|
NM_001166114.2(PNPLA6):c.2632C>G (p.Gln878Glu)
|
rs369420098
|
0.00001
|
|
NM_001166114.2(PNPLA6):c.2709G>A (p.Ala903=)
|
rs1198453694
|
0.00001
|
|
NM_001166114.2(PNPLA6):c.2808T>C (p.Pro936=)
|
rs1159313089
|
0.00001
|
|
NM_001166114.2(PNPLA6):c.2815C>T (p.Leu939=)
|
rs201897212
|
0.00001
|
|
NM_001166114.2(PNPLA6):c.2817+17C>T
|
rs777558728
|
0.00001
|
|
NM_001166114.2(PNPLA6):c.2818-9C>G
|
rs759090007
|
0.00001
|
|
NM_001166114.2(PNPLA6):c.2853G>A (p.Ala951=)
|
rs1257216343
|
0.00001
|
|
NM_001166114.2(PNPLA6):c.288C>T (p.Leu96=)
|
rs764984037
|
0.00001
|
|
NM_001166114.2(PNPLA6):c.2917C>T (p.Leu973=)
|
rs1488307606
|
0.00001
|
|
NM_001166114.2(PNPLA6):c.2928C>T (p.Gly976=)
|
rs553944725
|
0.00001
|
|
NM_001166114.2(PNPLA6):c.2936+10G>T
|
rs968640767
|
0.00001
|
|
NM_001166114.2(PNPLA6):c.2956G>A (p.Val986Ile)
|
rs1400699469
|
0.00001
|
|
NM_001166114.2(PNPLA6):c.2958A>G (p.Val986=)
|
rs752794292
|
0.00001
|
|
NM_001166114.2(PNPLA6):c.3019T>G (p.Ser1007Ala)
|
rs775899903
|
0.00001
|
|
NM_001166114.2(PNPLA6):c.3027C>T (p.Ile1009=)
|
rs746522719
|
0.00001
|
|
NM_001166114.2(PNPLA6):c.3028G>C (p.Gly1010Arg)
|
rs768107851
|
0.00001
|
|
NM_001166114.2(PNPLA6):c.3032C>T (p.Ala1011Val)
|
rs776289656
|
0.00001
|
|
NM_001166114.2(PNPLA6):c.3042G>C (p.Ala1014=)
|
rs769668311
|
0.00001
|
|
NM_001166114.2(PNPLA6):c.3104C>T (p.Ser1035Leu)
|
rs541098659
|
0.00001
|
|
NM_001166114.2(PNPLA6):c.3146C>T (p.Ser1049Phe)
|
rs2023885542
|
0.00001
|
|
NM_001166114.2(PNPLA6):c.315+19G>A
|
rs746162865
|
0.00001
|
|
NM_001166114.2(PNPLA6):c.316-2A>T
|
rs148045000
|
0.00001
|
|
NM_001166114.2(PNPLA6):c.3184C>T (p.Arg1062Trp)
|
rs375118832
|
0.00001
|
|
NM_001166114.2(PNPLA6):c.3185G>A (p.Arg1062Gln)
|
rs368449963
|
0.00001
|
|
NM_001166114.2(PNPLA6):c.318G>A (p.Val106=)
|
rs758696482
|
0.00001
|
|
NM_001166114.2(PNPLA6):c.3210+3A>G
|
rs1167974266
|
0.00001
|
|
NM_001166114.2(PNPLA6):c.3211-5C>T
|
rs376209366
|
0.00001
|
|
NM_001166114.2(PNPLA6):c.3220C>T (p.Leu1074=)
|
rs1188314161
|
0.00001
|
|
NM_001166114.2(PNPLA6):c.3281-7C>T
|
rs762489747
|
0.00001
|
|
NM_001166114.2(PNPLA6):c.3293G>A (p.Arg1098Gln)
|
rs756056332
|
0.00001
|
|
NM_001166114.2(PNPLA6):c.3302G>A (p.Arg1101His)
|
rs777615874
|
0.00001
|
|
NM_001166114.2(PNPLA6):c.3303C>T (p.Arg1101=)
|
rs752861684
|
0.00001
|
|
NM_001166114.2(PNPLA6):c.3314C>T (p.Thr1105Met)
|
rs1202026658
|
0.00001
|
|
NM_001166114.2(PNPLA6):c.3333C>T (p.Pro1111=)
|
rs777073418
|
0.00001
|
|
NM_001166114.2(PNPLA6):c.3339G>A (p.Leu1113=)
|
rs770303471
|
0.00001
|
|
NM_001166114.2(PNPLA6):c.3342C>T (p.Cys1114=)
|
rs972738687
|
0.00001
|
|
NM_001166114.2(PNPLA6):c.3376G>A (p.Gly1126Ser)
|
rs1204028385
|
0.00001
|
|
NM_001166114.2(PNPLA6):c.3402C>T (p.Asp1134=)
|
rs768519069
|
0.00001
|
|
NM_001166114.2(PNPLA6):c.3481G>A (p.Gly1161Arg)
|
rs776490050
|
0.00001
|
|
NM_001166114.2(PNPLA6):c.3518G>A (p.Arg1173Gln)
|
rs1057517802
|
0.00001
|
|
NM_001166114.2(PNPLA6):c.3540G>A (p.Lys1180=)
|
rs138697761
|
0.00001
|
|
NM_001166114.2(PNPLA6):c.3590C>A (p.Ser1197Tyr)
|
rs746492824
|
0.00001
|
|
NM_001166114.2(PNPLA6):c.3600G>T (p.Arg1200=)
|
rs149359299
|
0.00001
|
|
NM_001166114.2(PNPLA6):c.3633C>T (p.Cys1211=)
|
rs200413993
|
0.00001
|
|
NM_001166114.2(PNPLA6):c.3648G>A (p.Pro1216=)
|
rs765541557
|
0.00001
|
|
NM_001166114.2(PNPLA6):c.3680G>T (p.Gly1227Val)
|
rs780878126
|
0.00001
|
|
NM_001166114.2(PNPLA6):c.3698A>G (p.Tyr1233Cys)
|
rs777550870
|
0.00001
|
|
NM_001166114.2(PNPLA6):c.3700-9T>G
|
rs528382572
|
0.00001
|
|
NM_001166114.2(PNPLA6):c.3703G>A (p.Val1235Met)
|
rs745714280
|
0.00001
|
|
NM_001166114.2(PNPLA6):c.3732T>C (p.Phe1244=)
|
rs967628708
|
0.00001
|
|
NM_001166114.2(PNPLA6):c.3754G>A (p.Val1252Ile)
|
rs753386551
|
0.00001
|
|
NM_001166114.2(PNPLA6):c.3768G>T (p.Met1256Ile)
|
rs878854905
|
0.00001
|
|
NM_001166114.2(PNPLA6):c.3805C>T (p.Arg1269Cys)
|
rs2024064953
|
0.00001
|
|
NM_001166114.2(PNPLA6):c.3816+1G>A
|
rs1490826010
|
0.00001
|
|
NM_001166114.2(PNPLA6):c.3856G>A (p.Glu1286Lys)
|
rs1318719241
|
0.00001
|
|
NM_001166114.2(PNPLA6):c.3869G>A (p.Arg1290Gln)
|
rs764729340
|
0.00001
|
|
NM_001166114.2(PNPLA6):c.3961G>A (p.Asp1321Asn)
|
rs144558473
|
0.00001
|
|
NM_001166114.2(PNPLA6):c.3968C>T (p.Ser1323Leu)
|
rs147822708
|
0.00001
|
|
NM_001166114.2(PNPLA6):c.3991G>A (p.Glu1331Lys)
|
rs371906206
|
0.00001
|
|
NM_001166114.2(PNPLA6):c.3992A>T (p.Glu1331Val)
|
rs771807857
|
0.00001
|
|
NM_001166114.2(PNPLA6):c.4017C>T (p.Ser1339=)
|
rs140501151
|
0.00001
|
|
NM_001166114.2(PNPLA6):c.4046G>A (p.Arg1349Gln)
|
rs368661376
|
0.00001
|
|
NM_001166114.2(PNPLA6):c.4064C>T (p.Pro1355Leu)
|
rs2024101144
|
0.00001
|
|
NM_001166114.2(PNPLA6):c.4083A>C (p.Ser1361=)
|
rs1285522188
|
0.00001
|
|
NM_001166114.2(PNPLA6):c.413+15G>A
|
rs766635130
|
0.00001
|
|
NM_001166114.2(PNPLA6):c.414-3C>G
|
rs1312058418
|
0.00001
|
|
NM_001166114.2(PNPLA6):c.452G>A (p.Arg151Gln)
|
rs376396266
|
0.00001
|
|
NM_001166114.2(PNPLA6):c.465G>A (p.Pro155=)
|
rs1466764526
|
0.00001
|
|
NM_001166114.2(PNPLA6):c.517C>T (p.Leu173=)
|
rs756791412
|
0.00001
|
|
NM_001166114.2(PNPLA6):c.570C>T (p.Phe190=)
|
rs1007265464
|
0.00001
|
|
NM_001166114.2(PNPLA6):c.599G>A (p.Arg200His)
|
rs749879325
|
0.00001
|
|
NM_001166114.2(PNPLA6):c.621G>A (p.Leu207=)
|
rs200521839
|
0.00001
|
|
NM_001166114.2(PNPLA6):c.647C>T (p.Pro216Leu)
|
rs777837588
|
0.00001
|
|
NM_001166114.2(PNPLA6):c.684C>T (p.Asp228=)
|
rs375424103
|
0.00001
|
|
NM_001166114.2(PNPLA6):c.713C>T (p.Pro238Leu)
|
rs763499274
|
0.00001
|
|
NM_001166114.2(PNPLA6):c.715-17G>A
|
rs372017403
|
0.00001
|
|
NM_001166114.2(PNPLA6):c.715-18C>T
|
rs747065084
|
0.00001
|
|
NM_001166114.2(PNPLA6):c.717C>T (p.Asp239=)
|
rs770120484
|
0.00001
|
|
NM_001166114.2(PNPLA6):c.808C>T (p.Pro270Ser)
|
rs1382702507
|
0.00001
|
|
NM_001166114.2(PNPLA6):c.838C>T (p.Arg280Trp)
|
rs779386400
|
0.00001
|
|
NM_001166114.2(PNPLA6):c.842A>G (p.Asp281Gly)
|
rs746313026
|
0.00001
|
|
NM_001166114.2(PNPLA6):c.897C>A (p.Tyr299Ter)
|
rs1568408269
|
0.00001
|
|
NM_001166114.2(PNPLA6):c.946C>A (p.Arg316=)
|
rs1352475389
|
0.00001
|
|
NM_001166114.2(PNPLA6):c.958C>T (p.Leu320=)
|
rs758832982
|
0.00001
|
|
NM_001166114.2(PNPLA6):c.964C>T (p.Leu322=)
|
rs747498966
|
0.00001
|
|
NM_001166114.2(PNPLA6):c.989A>G (p.Asn330Ser)
|
rs1183371584
|
0.00001
|
|
NM_001199753.2(CPT1C):c.1018C>T (p.Arg340Ter)
|
rs780195851
|
0.00001
|
|
NM_001199753.2(CPT1C):c.1027C>T (p.Arg343Cys)
|
rs202048325
|
0.00001
|
|
NM_001199753.2(CPT1C):c.1064C>T (p.Pro355Leu)
|
rs1384468076
|
0.00001
|
|
NM_001199753.2(CPT1C):c.109C>T (p.Arg37Cys)
|
rs786204767
|
0.00001
|
|
NM_001199753.2(CPT1C):c.1142C>T (p.Ala381Val)
|
rs1436873820
|
0.00001
|
|
NM_001199753.2(CPT1C):c.1365C>T (p.Thr455=)
|
rs369622356
|
0.00001
|
|
NM_001199753.2(CPT1C):c.1431C>T (p.Ile477=)
|
rs771133911
|
0.00001
|
|
NM_001199753.2(CPT1C):c.1477C>A (p.Leu493Met)
|
rs771223811
|
0.00001
|
|
NM_001199753.2(CPT1C):c.1623C>T (p.Val541=)
|
rs377075105
|
0.00001
|
|
NM_001199753.2(CPT1C):c.1635C>T (p.Val545=)
|
rs371168897
|
0.00001
|
|
NM_001199753.2(CPT1C):c.1962G>A (p.Leu654=)
|
rs771394188
|
0.00001
|
|
NM_001199753.2(CPT1C):c.2019+17A>G
|
rs538359078
|
0.00001
|
|
NM_001199753.2(CPT1C):c.203C>T (p.Ala68Val)
|
rs780566514
|
0.00001
|
|
NM_001199753.2(CPT1C):c.2057_2061del (p.Ile686fs)
|
rs1568547326
|
0.00001
|
|
NM_001199753.2(CPT1C):c.21C>T (p.Ala7=)
|
rs755710053
|
0.00001
|
|
NM_001199753.2(CPT1C):c.2298G>C (p.Gln766His)
|
rs746999197
|
0.00001
|
|
NM_001199753.2(CPT1C):c.33A>T (p.Arg11=)
|
rs1361033516
|
0.00001
|
|
NM_001199753.2(CPT1C):c.449G>A (p.Trp150Ter)
|
rs772980944
|
0.00001
|
|
NM_001199753.2(CPT1C):c.463C>T (p.Arg155Cys)
|
rs775732767
|
0.00001
|
|
NM_001199753.2(CPT1C):c.489G>A (p.Met163Ile)
|
rs369825557
|
0.00001
|
|
NM_001199753.2(CPT1C):c.55G>A (p.Ala19Thr)
|
rs1317849272
|
0.00001
|
|
NM_001199753.2(CPT1C):c.740C>T (p.Pro247Leu)
|
rs765359581
|
0.00001
|
|
NM_001199753.2(CPT1C):c.979C>A (p.Leu327Ile)
|
rs773593581
|
0.00001
|
|
NM_001244008.2(KIF1A):c.*1205G>A
|
rs886055833
|
0.00001
|
|
NM_001244008.2(KIF1A):c.*1581A>C
|
rs558128100
|
0.00001
|
|
NM_001244008.2(KIF1A):c.*1630A>G
|
rs1456761693
|
0.00001
|
|
NM_001244008.2(KIF1A):c.*2361C>T
|
rs1357102806
|
0.00001
|
|
NM_001244008.2(KIF1A):c.*3287T>C
|
rs1301246063
|
0.00001
|
|
NM_001244008.2(KIF1A):c.*3483G>A
|
rs1456668203
|
0.00001
|
|
NM_001244008.2(KIF1A):c.*38A>G
|
rs772148613
|
0.00001
|
|
NM_001244008.2(KIF1A):c.*574C>A
|
rs1271092296
|
0.00001
|
|
NM_001244008.2(KIF1A):c.*768G>A
|
rs1009670783
|
0.00001
|
|
NM_001244008.2(KIF1A):c.-38C>G
|
rs886055837
|
0.00001
|
|
NM_001244008.2(KIF1A):c.1005C>T (p.Asp335=)
|
rs1471754317
|
0.00001
|
|
NM_001244008.2(KIF1A):c.1038-13C>G
|
rs1407985726
|
0.00001
|
|
NM_001244008.2(KIF1A):c.1038-14C>T
|
rs1289181876
|
0.00001
|
|
NM_001244008.2(KIF1A):c.1038-17C>T
|
rs1490274711
|
0.00001
|
|
NM_001244008.2(KIF1A):c.1038-19A>G
|
rs1200606832
|
0.00001
|
|
NM_001244008.2(KIF1A):c.1048C>T (p.Arg350Trp)
|
rs387907259
|
0.00001
|
|
NM_001244008.2(KIF1A):c.1063C>T (p.Arg355Cys)
|
rs1225233710
|
0.00001
|
|
NM_001244008.2(KIF1A):c.107-9C>T
|
rs759466113
|
0.00001
|
|
NM_001244008.2(KIF1A):c.1107C>T (p.Ile369=)
|
rs2052249229
|
0.00001
|
|
NM_001244008.2(KIF1A):c.1119G>A (p.Lys373=)
|
rs751478068
|
0.00001
|
|
NM_001244008.2(KIF1A):c.1130C>T (p.Thr377Ile)
|
rs1183605403
|
0.00001
|
|
NM_001244008.2(KIF1A):c.1138C>T (p.Arg380Trp)
|
rs545501989
|
0.00001
|
|
NM_001244008.2(KIF1A):c.1139G>A (p.Arg380Gln)
|
rs759791775
|
0.00001
|
|
NM_001244008.2(KIF1A):c.1160G>T (p.Gly387Val)
|
rs868321329
|
0.00001
|
|
NM_001244008.2(KIF1A):c.1168G>A (p.Asp390Asn)
|
rs1049441176
|
0.00001
|
|
NM_001244008.2(KIF1A):c.1177G>C (p.Asp393His)
|
rs1469725451
|
0.00001
|
|
NM_001244008.2(KIF1A):c.1180+3G>A
|
rs201966080
|
0.00001
|
|
NM_001244008.2(KIF1A):c.1180+8C>T
|
rs2052235430
|
0.00001
|
|
NM_001244008.2(KIF1A):c.1267G>A (p.Ala423Thr)
|
rs1345536541
|
0.00001
|
|
NM_001244008.2(KIF1A):c.1268C>T (p.Ala423Val)
|
rs549643552
|
0.00001
|
|
NM_001244008.2(KIF1A):c.1270G>A (p.Ala424Thr)
|
rs749112240
|
0.00001
|
|
NM_001244008.2(KIF1A):c.1291G>A (p.Glu431Lys)
|
rs1215532195
|
0.00001
|
|
NM_001244008.2(KIF1A):c.1299C>G (p.Ile433Met)
|
rs753106892
|
0.00001
|
|
NM_001244008.2(KIF1A):c.1307C>T (p.Ala436Val)
|
rs1372206358
|
0.00001
|
|
NM_001244008.2(KIF1A):c.1335A>G (p.Arg445=)
|
rs559288163
|
0.00001
|
|
NM_001244008.2(KIF1A):c.1341+8C>T
|
rs749268264
|
0.00001
|
|
NM_001244008.2(KIF1A):c.1360G>A (p.Ala454Thr)
|
rs1575598898
|
0.00001
|
|
NM_001244008.2(KIF1A):c.1401A>G (p.Thr467=)
|
rs755479485
|
0.00001
|
|
NM_001244008.2(KIF1A):c.1422-4C>T
|
rs1232884429
|
0.00001
|
|
NM_001244008.2(KIF1A):c.1467C>T (p.Gly489=)
|
rs759456451
|
0.00001
|
|
NM_001244008.2(KIF1A):c.1530G>A (p.Pro510=)
|
rs770156236
|
0.00001
|
|
NM_001244008.2(KIF1A):c.1533G>C (p.Leu511=)
|
rs569314062
|
0.00001
|
|
NM_001244008.2(KIF1A):c.1571T>C (p.Ile524Thr)
|
rs1355751702
|
0.00001
|
|
NM_001244008.2(KIF1A):c.1577+17C>A
|
rs927982776
|
0.00001
|
|
NM_001244008.2(KIF1A):c.1578-4G>A
|
rs376897164
|
0.00001
|
|
NM_001244008.2(KIF1A):c.1599G>A (p.Glu533=)
|
rs758558877
|
0.00001
|
|
NM_001244008.2(KIF1A):c.15G>A (p.Ser5=)
|
rs759002821
|
0.00001
|
|
NM_001244008.2(KIF1A):c.1626G>A (p.Gly542=)
|
rs1300873600
|
0.00001
|
|
NM_001244008.2(KIF1A):c.1650C>T (p.Cys550=)
|
rs542025698
|
0.00001
|
|
NM_001244008.2(KIF1A):c.1668C>T (p.Ser556=)
|
rs1197450041
|
0.00001
|
|
NM_001244008.2(KIF1A):c.1670G>T (p.Arg557Met)
|
rs773904723
|
0.00001
|
|
NM_001244008.2(KIF1A):c.1684+12C>T
|
rs1350940887
|
0.00001
|
|
NM_001244008.2(KIF1A):c.1684+8C>T
|
rs769501237
|
0.00001
|
|
NM_001244008.2(KIF1A):c.1726G>A (p.Val576Ile)
|
rs747993082
|
0.00001
|
|
NM_001244008.2(KIF1A):c.174G>A (p.Ser58=)
|
rs369088708
|
0.00001
|
|
NM_001244008.2(KIF1A):c.1762C>T (p.Arg588Cys)
|
rs755058594
|
0.00001
|
|
NM_001244008.2(KIF1A):c.1769-11C>T
|
rs1335285612
|
0.00001
|
|
NM_001244008.2(KIF1A):c.1769-13C>G
|
rs1440639678
|
0.00001
|
|
NM_001244008.2(KIF1A):c.1769-8T>C
|
rs886055836
|
0.00001
|
|
NM_001244008.2(KIF1A):c.1774C>T (p.Arg592Cys)
|
rs1379137279
|
0.00001
|
|
NM_001244008.2(KIF1A):c.1794C>T (p.Ser598=)
|
rs967827529
|
0.00001
|
|
NM_001244008.2(KIF1A):c.1805G>A (p.Arg602Gln)
|
rs1009422974
|
0.00001
|
|
NM_001244008.2(KIF1A):c.183+8G>A
|
rs755604758
|
0.00001
|
|
NM_001244008.2(KIF1A):c.1863G>A (p.Thr621=)
|
rs772785242
|
0.00001
|
|
NM_001244008.2(KIF1A):c.186T>C (p.Pro62=)
|
rs371711641
|
0.00001
|
|
NM_001244008.2(KIF1A):c.1897C>T (p.Arg633Cys)
|
rs1454909533
|
0.00001
|
|
NM_001244008.2(KIF1A):c.1943A>G (p.Glu648Gly)
|
rs749169628
|
0.00001
|
|
NM_001244008.2(KIF1A):c.1946A>C (p.Gln649Pro)
|
rs1356741390
|
0.00001
|
|
NM_001244008.2(KIF1A):c.1949+16C>T
|
rs747394070
|
0.00001
|
|
NM_001244008.2(KIF1A):c.1950-3C>T
|
rs778033896
|
0.00001
|
|
NM_001244008.2(KIF1A):c.1954C>T (p.Gln652Ter)
|
rs748477031
|
0.00001
|
|
NM_001244008.2(KIF1A):c.1962G>T (p.Leu654=)
|
rs779460275
|
0.00001
|
|
NM_001244008.2(KIF1A):c.1979G>A (p.Arg660His)
|
rs749914330
|
0.00001
|
|
NM_001244008.2(KIF1A):c.1989G>A (p.Glu663=)
|
rs1371005890
|
0.00001
|
|
NM_001244008.2(KIF1A):c.198C>A (p.Asn66Lys)
|
rs1336875527
|
0.00001
|
|
NM_001244008.2(KIF1A):c.1993G>T (p.Ala665Ser)
|
rs780686801
|
0.00001
|
|
NM_001244008.2(KIF1A):c.2022+10G>A
|
rs763816679
|
0.00001
|
|
NM_001244008.2(KIF1A):c.2022+17C>T
|
rs762883207
|
0.00001
|
|
NM_001244008.2(KIF1A):c.2023-4G>A
|
rs201122759
|
0.00001
|
|
NM_001244008.2(KIF1A):c.202G>A (p.Ala68Thr)
|
rs761950783
|
0.00001
|
|
NM_001244008.2(KIF1A):c.203C>T (p.Ala68Val)
|
rs550027484
|
0.00001
|
|
NM_001244008.2(KIF1A):c.2049G>A (p.Leu683=)
|
rs373116562
|
0.00001
|
|
NM_001244008.2(KIF1A):c.2072A>G (p.Tyr691Cys)
|
rs531766047
|
0.00001
|
|
NM_001244008.2(KIF1A):c.2099A>G (p.Glu700Gly)
|
rs1295868943
|
0.00001
|
|
NM_001244008.2(KIF1A):c.2100G>A (p.Glu700=)
|
rs374701055
|
0.00001
|
|
NM_001244008.2(KIF1A):c.2117-19G>A
|
rs144984515
|
0.00001
|
|
NM_001244008.2(KIF1A):c.2120A>G (p.Gln707Arg)
|
rs753567219
|
0.00001
|
|
NM_001244008.2(KIF1A):c.2128G>C (p.Glu710Gln)
|
rs755944462
|
0.00001
|
|
NM_001244008.2(KIF1A):c.2138G>A (p.Cys713Tyr)
|
rs763443113
|
0.00001
|
|
NM_001244008.2(KIF1A):c.2148G>A (p.Ala716=)
|
rs746313347
|
0.00001
|
|
NM_001244008.2(KIF1A):c.2151C>T (p.Leu717=)
|
rs772882151
|
0.00001
|
|
NM_001244008.2(KIF1A):c.2161C>T (p.Arg721Trp)
|
rs747643976
|
0.00001
|
|
NM_001244008.2(KIF1A):c.2162G>T (p.Arg721Leu)
|
rs1159860840
|
0.00001
|
|
NM_001244008.2(KIF1A):c.2172G>C (p.Lys724Asn)
|
rs1179435841
|
0.00001
|
|
NM_001244008.2(KIF1A):c.217G>T (p.Val73Leu)
|
rs770463399
|
0.00001
|
|
NM_001244008.2(KIF1A):c.2186C>T (p.Thr729Met)
|
rs1443898180
|
0.00001
|
|
NM_001244008.2(KIF1A):c.2214C>T (p.Asn738=)
|
rs551496176
|
0.00001
|
|
NM_001244008.2(KIF1A):c.2215G>A (p.Ala739Thr)
|
rs1373179079
|
0.00001
|
|
NM_001244008.2(KIF1A):c.2233G>T (p.Ala745Ser)
|
rs1384214619
|
0.00001
|
|
NM_001244008.2(KIF1A):c.2247C>T (p.Ser749=)
|
rs765482475
|
0.00001
|
|
NM_001244008.2(KIF1A):c.2248G>A (p.Val750Met)
|
rs374794257
|
0.00001
|
|
NM_001244008.2(KIF1A):c.2266-10C>T
|
rs1213501281
|
0.00001
|
|
NM_001244008.2(KIF1A):c.2266-6T>G
|
rs765538257
|
0.00001
|
|
NM_001244008.2(KIF1A):c.2266-9C>T
|
rs1333121682
|
0.00001
|
|
NM_001244008.2(KIF1A):c.2311C>T (p.Leu771=)
|
rs1166259252
|
0.00001
|
|
NM_001244008.2(KIF1A):c.231C>T (p.Ile77=)
|
rs530669240
|
0.00001
|
|
NM_001244008.2(KIF1A):c.2320G>A (p.Asp774Asn)
|
rs745722085
|
0.00001
|
|
NM_001244008.2(KIF1A):c.2357C>T (p.Thr786Met)
|
rs766807173
|
0.00001
|
|
NM_001244008.2(KIF1A):c.2358G>A (p.Thr786=)
|
rs1177964009
|
0.00001
|
|
NM_001244008.2(KIF1A):c.2371C>T (p.Arg791Cys)
|
rs768035823
|
0.00001
|
|
NM_001244008.2(KIF1A):c.2377A>G (p.Ile793Val)
|
rs775052573
|
0.00001
|
|
NM_001244008.2(KIF1A):c.2386G>A (p.Val796Met)
|
rs1370744783
|
0.00001
|
|
NM_001244008.2(KIF1A):c.2410G>A (p.Gly804Arg)
|
rs773066933
|
0.00001
|
|
NM_001244008.2(KIF1A):c.2429C>T (p.Thr810Met)
|
rs772046874
|
0.00001
|
|
NM_001244008.2(KIF1A):c.2430G>A (p.Thr810=)
|
rs371805653
|
0.00001
|
|
NM_001244008.2(KIF1A):c.2444+3G>A
|
rs779065199
|
0.00001
|
|
NM_001244008.2(KIF1A):c.2445-10G>A
|
rs565517877
|
0.00001
|
|
NM_001244008.2(KIF1A):c.2445-18C>T
|
rs764676288
|
0.00001
|
|
NM_001244008.2(KIF1A):c.2479C>T (p.Arg827Cys)
|
rs376012799
|
0.00001
|
|
NM_001244008.2(KIF1A):c.2480G>A (p.Arg827His)
|
rs768899178
|
0.00001
|
|
NM_001244008.2(KIF1A):c.2495C>T (p.Pro832Leu)
|
rs752020189
|
0.00001
|
|
NM_001244008.2(KIF1A):c.2523C>T (p.Asn841=)
|
rs542220900
|
0.00001
|
|
NM_001244008.2(KIF1A):c.2527G>A (p.Val843Met)
|
rs551697944
|
0.00001
|
|
NM_001244008.2(KIF1A):c.2532C>T (p.Thr844=)
|
rs370648599
|
0.00001
|
|
NM_001244008.2(KIF1A):c.2536G>A (p.Gly846Arg)
|
rs768702963
|
0.00001
|
|
NM_001244008.2(KIF1A):c.2570G>A (p.Arg857Gln)
|
rs1195594601
|
0.00001
|
|
NM_001244008.2(KIF1A):c.2582+13T>A
|
rs2050115711
|
0.00001
|
|
NM_001244008.2(KIF1A):c.2582+7G>A
|
rs781439626
|
0.00001
|
|
NM_001244008.2(KIF1A):c.2617C>T (p.Leu873Phe)
|
rs2050011882
|
0.00001
|
|
NM_001244008.2(KIF1A):c.261G>A (p.Glu87=)
|
rs756068958
|
0.00001
|
|
NM_001244008.2(KIF1A):c.270C>T (p.Asn90=)
|
rs750320422
|
0.00001
|
|
NM_001244008.2(KIF1A):c.2840del (p.Leu947fs)
|
rs587778791
|
0.00001
|
|
NM_001244008.2(KIF1A):c.2909G>A (p.Arg970His)
|
rs201742042
|
0.00001
|
|
NM_001244008.2(KIF1A):c.2919C>A (p.Ile973=)
|
rs756247806
|
0.00001
|
|
NM_001244008.2(KIF1A):c.2920G>A (p.Val974Ile)
|
rs577997489
|
0.00001
|
|
NM_001244008.2(KIF1A):c.2953C>T (p.Arg985Cys)
|
rs760325615
|
0.00001
|
|
NM_001244008.2(KIF1A):c.2954G>A (p.Arg985His)
|
rs772779524
|
0.00001
|
|
NM_001244008.2(KIF1A):c.2962G>A (p.Val988Ile)
|
rs1355031628
|
0.00001
|
|
NM_001244008.2(KIF1A):c.2976A>G (p.Ser992=)
|
rs2049077964
|
0.00001
|
|
NM_001244008.2(KIF1A):c.2977+18G>A
|
rs755980146
|
0.00001
|
|
NM_001244008.2(KIF1A):c.2977+20C>T
|
rs770943608
|
0.00001
|
|
NM_001244008.2(KIF1A):c.297G>A (p.Thr99=)
|
rs751855235
|
0.00001
|
|
NM_001244008.2(KIF1A):c.3009C>T (p.Gly1003=)
|
rs191727100
|
0.00001
|
|
NM_001244008.2(KIF1A):c.3020C>T (p.Ser1007Leu)
|
rs1553630819
|
0.00001
|
|
NM_001244008.2(KIF1A):c.303C>T (p.Ala101=)
|
rs372396112
|
0.00001
|
|
NM_001244008.2(KIF1A):c.3045T>C (p.Asp1015=)
|
rs757187351
|
0.00001
|
|
NM_001244008.2(KIF1A):c.3052C>T (p.His1018Tyr)
|
rs1356639316
|
0.00001
|
|
NM_001244008.2(KIF1A):c.3064-13C>T
|
rs779347174
|
0.00001
|
|
NM_001244008.2(KIF1A):c.3075G>A (p.Glu1025=)
|
rs1234424092
|
0.00001
|
|
NM_001244008.2(KIF1A):c.3090G>A (p.Val1030=)
|
rs1212393813
|
0.00001
|
|
NM_001244008.2(KIF1A):c.3100C>T (p.Arg1034Cys)
|
rs1036143999
|
0.00001
|
|
NM_001244008.2(KIF1A):c.3101G>A (p.Arg1034His)
|
rs375775494
|
0.00001
|
|
NM_001244008.2(KIF1A):c.3105G>A (p.Ser1035=)
|
rs759168453
|
0.00001
|
|
NM_001244008.2(KIF1A):c.3149A>G (p.Gln1050Arg)
|
rs1472781226
|
0.00001
|
|
NM_001244008.2(KIF1A):c.3159C>T (p.Asp1053=)
|
rs761993869
|
0.00001
|
|
NM_001244008.2(KIF1A):c.3195C>A (p.Thr1065=)
|
rs970866128
|
0.00001
|
|
NM_001244008.2(KIF1A):c.3203-10C>T
|
rs747471328
|
0.00001
|
|
NM_001244008.2(KIF1A):c.3203-3C>T
|
rs371669128
|
0.00001
|
|
NM_001244008.2(KIF1A):c.3203-8C>T
|
rs778217414
|
0.00001
|
|
NM_001244008.2(KIF1A):c.3227T>C (p.Leu1076Pro)
|
rs757087817
|
0.00001
|
|
NM_001244008.2(KIF1A):c.3258G>A (p.Gly1086=)
|
rs371982077
|
0.00001
|
|
NM_001244008.2(KIF1A):c.3278A>G (p.Asp1093Gly)
|
rs748846590
|
0.00001
|
|
NM_001244008.2(KIF1A):c.3285C>A (p.Leu1095=)
|
rs1402317462
|
0.00001
|
|
NM_001244008.2(KIF1A):c.3287G>A (p.Arg1096His)
|
rs780970120
|
0.00001
|
|
NM_001244008.2(KIF1A):c.3288C>T (p.Arg1096=)
|
rs542427011
|
0.00001
|
|
NM_001244008.2(KIF1A):c.3292G>A (p.Gly1098Ser)
|
rs1041754142
|
0.00001
|
|
NM_001244008.2(KIF1A):c.3296A>G (p.Asn1099Ser)
|
rs1288885072
|
0.00001
|
|
NM_001244008.2(KIF1A):c.3321C>A (p.Val1107=)
|
rs758210408
|
0.00001
|
|
NM_001244008.2(KIF1A):c.333G>C (p.Gln111His)
|
rs2055179473
|
0.00001
|
|
NM_001244008.2(KIF1A):c.3346G>A (p.Glu1116Lys)
|
rs377010898
|
0.00001
|
|
NM_001244008.2(KIF1A):c.3374+13T>C
|
rs762189841
|
0.00001
|
|
NM_001244008.2(KIF1A):c.3375C>T (p.Asn1125=)
|
rs1380599495
|
0.00001
|
|
NM_001244008.2(KIF1A):c.3386G>A (p.Arg1129His)
|
rs769283409
|
0.00001
|
|
NM_001244008.2(KIF1A):c.3390C>T (p.His1130=)
|
rs369038475
|
0.00001
|
|
NM_001244008.2(KIF1A):c.33G>C (p.Arg11=)
|
rs765920658
|
0.00001
|
|
NM_001244008.2(KIF1A):c.3435C>T (p.Gly1145=)
|
rs369811703
|
0.00001
|
|
NM_001244008.2(KIF1A):c.3459C>T (p.Val1153=)
|
rs1220625543
|
0.00001
|
|
NM_001244008.2(KIF1A):c.3465+8C>T
|
rs368114596
|
0.00001
|
|
NM_001244008.2(KIF1A):c.3554C>T (p.Pro1185Leu)
|
rs1316844536
|
0.00001
|
|
NM_001244008.2(KIF1A):c.3579G>A (p.Val1193=)
|
rs1452876502
|
0.00001
|
|
NM_001244008.2(KIF1A):c.3580C>T (p.Leu1194Phe)
|
rs901485293
|
0.00001
|
|
NM_001244008.2(KIF1A):c.3582C>G (p.Leu1194=)
|
rs185587291
|
0.00001
|
|
NM_001244008.2(KIF1A):c.3584+7G>A
|
rs768577501
|
0.00001
|
|
NM_001244008.2(KIF1A):c.3585-12C>T
|
rs1220332881
|
0.00001
|
|
NM_001244008.2(KIF1A):c.3585C>T (p.Ser1195=)
|
rs907370883
|
0.00001
|
|
NM_001244008.2(KIF1A):c.3590T>G (p.Leu1197Arg)
|
rs756831909
|
0.00001
|
|
NM_001244008.2(KIF1A):c.3594G>T (p.Arg1198Ser)
|
rs1411100549
|
0.00001
|
|
NM_001244008.2(KIF1A):c.3604C>T (p.Arg1202Cys)
|
rs759228543
|
0.00001
|
|
NM_001244008.2(KIF1A):c.3614C>T (p.Pro1205Leu)
|
rs1221795464
|
0.00001
|
|
NM_001244008.2(KIF1A):c.3616C>T (p.Arg1206Trp)
|
rs772443183
|
0.00001
|
|
NM_001244008.2(KIF1A):c.363+17G>A
|
rs1030989433
|
0.00001
|
|
NM_001244008.2(KIF1A):c.3631T>C (p.Ser1211Pro)
|
rs2048162809
|
0.00001
|
|
NM_001244008.2(KIF1A):c.3640+12C>T
|
rs1403885809
|
0.00001
|
|
NM_001244008.2(KIF1A):c.3640+13T>C
|
rs1361694043
|
0.00001
|
|
NM_001244008.2(KIF1A):c.3640+3dup
|
rs1414754009
|
0.00001
|
|
NM_001244008.2(KIF1A):c.3641-17C>G
|
rs1335137063
|
0.00001
|
|
NM_001244008.2(KIF1A):c.3645C>T (p.Pro1215=)
|
rs527460432
|
0.00001
|
|
NM_001244008.2(KIF1A):c.3670C>T (p.Arg1224Trp)
|
rs368577433
|
0.00001
|
|
NM_001244008.2(KIF1A):c.3695G>A (p.Cys1232Tyr)
|
rs372549695
|
0.00001
|
|
NM_001244008.2(KIF1A):c.3744C>T (p.Asn1248=)
|
rs771357052
|
0.00001
|
|
NM_001244008.2(KIF1A):c.3750-19_3750-18del
|
rs2047818019
|
0.00001
|
|
NM_001244008.2(KIF1A):c.3763G>A (p.Val1255Met)
|
rs752703226
|
0.00001
|
|
NM_001244008.2(KIF1A):c.3765G>T (p.Val1255=)
|
rs765454599
|
0.00001
|
|
NM_001244008.2(KIF1A):c.3775C>T (p.Arg1259Cys)
|
rs766693472
|
0.00001
|
|
NM_001244008.2(KIF1A):c.3776G>A (p.Arg1259His)
|
rs761077237
|
0.00001
|
|
NM_001244008.2(KIF1A):c.3795G>A (p.Met1265Ile)
|
rs376759734
|
0.00001
|
|
NM_001244008.2(KIF1A):c.3816+8C>T
|
rs776328472
|
0.00001
|
|
NM_001244008.2(KIF1A):c.3817-20C>T
|
rs773007973
|
0.00001
|
|
NM_001244008.2(KIF1A):c.3817-6C>T
|
rs748123503
|
0.00001
|
|
NM_001244008.2(KIF1A):c.3826C>T (p.Arg1276Ter)
|
rs368078424
|
0.00001
|
|
NM_001244008.2(KIF1A):c.3829C>T (p.Arg1277Trp)
|
rs374076405
|
0.00001
|
|
NM_001244008.2(KIF1A):c.3867T>C (p.His1289=)
|
rs903579697
|
0.00001
|
|
NM_001244008.2(KIF1A):c.3872G>A (p.Arg1291His)
|
rs201653410
|
0.00001
|
|
NM_001244008.2(KIF1A):c.3901+8C>T
|
rs1461765194
|
0.00001
|
|
NM_001244008.2(KIF1A):c.3904C>T (p.Arg1302Cys)
|
rs767151093
|
0.00001
|
|
NM_001244008.2(KIF1A):c.3905G>A (p.Arg1302His)
|
rs376697478
|
0.00001
|
|
NM_001244008.2(KIF1A):c.3911G>A (p.Arg1304Gln)
|
rs762988579
|
0.00001
|
|
NM_001244008.2(KIF1A):c.3935C>A (p.Ser1312Tyr)
|
rs375758374
|
0.00001
|
|
NM_001244008.2(KIF1A):c.3936C>A (p.Ser1312=)
|
rs753295506
|
0.00001
|
|
NM_001244008.2(KIF1A):c.3950A>G (p.Asn1317Ser)
|
rs374267267
|
0.00001
|
|
NM_001244008.2(KIF1A):c.3966C>T (p.Asn1322=)
|
rs1398187893
|
0.00001
|
|
NM_001244008.2(KIF1A):c.398C>T (p.Thr133Met)
|
rs548452545
|
0.00001
|
|
NM_001244008.2(KIF1A):c.3990C>G (p.His1330Gln)
|
rs765021474
|
0.00001
|
|
NM_001244008.2(KIF1A):c.399G>A (p.Thr133=)
|
rs755122109
|
0.00001
|
|
NM_001244008.2(KIF1A):c.4004A>G (p.Asp1335Gly)
|
rs747271930
|
0.00001
|
|
NM_001244008.2(KIF1A):c.4007+9G>A
|
rs755392068
|
0.00001
|
|
NM_001244008.2(KIF1A):c.4007G>A (p.Arg1336Gln)
|
rs772545191
|
0.00001
|
|
NM_001244008.2(KIF1A):c.4031C>T (p.Ala1344Val)
|
rs876661146
|
0.00001
|
|
NM_001244008.2(KIF1A):c.4045A>C (p.Met1349Leu)
|
rs777103421
|
0.00001
|
|
NM_001244008.2(KIF1A):c.4046T>C (p.Met1349Thr)
|
rs1045777400
|
0.00001
|
|
NM_001244008.2(KIF1A):c.4068C>T (p.Asn1356=)
|
rs1481460597
|
0.00001
|
|
NM_001244008.2(KIF1A):c.406G>A (p.Asp136Asn)
|
rs374178011
|
0.00001
|
|
NM_001244008.2(KIF1A):c.4085G>A (p.Arg1362Gln)
|
rs753620726
|
0.00001
|
|
NM_001244008.2(KIF1A):c.4093A>G (p.Ile1365Val)
|
rs1181848204
|
0.00001
|
|
NM_001244008.2(KIF1A):c.4105C>A (p.Leu1369Ile)
|
rs2046066994
|
0.00001
|
|
NM_001244008.2(KIF1A):c.4107C>G (p.Leu1369=)
|
rs750344596
|
0.00001
|
|
NM_001244008.2(KIF1A):c.4123-9C>T
|
rs1481047493
|
0.00001
|
|
NM_001244008.2(KIF1A):c.4133G>A (p.Cys1378Tyr)
|
rs759928750
|
0.00001
|
|
NM_001244008.2(KIF1A):c.4194G>T (p.Lys1398Asn)
|
rs745612845
|
0.00001
|
|
NM_001244008.2(KIF1A):c.4205C>T (p.Ser1402Leu)
|
rs764487659
|
0.00001
|
|
NM_001244008.2(KIF1A):c.4217G>A (p.Arg1406His)
|
rs755301795
|
0.00001
|
|
NM_001244008.2(KIF1A):c.424G>A (p.Val142Met)
|
rs745504142
|
0.00001
|
|
NM_001244008.2(KIF1A):c.4256+5G>A
|
rs762550114
|
0.00001
|
|
NM_001244008.2(KIF1A):c.4257-12T>C
|
rs960525501
|
0.00001
|
|
NM_001244008.2(KIF1A):c.4263T>C (p.Arg1421=)
|
rs1575522689
|
0.00001
|
|
NM_001244008.2(KIF1A):c.4278C>T (p.Tyr1426=)
|
rs572662012
|
0.00001
|
|
NM_001244008.2(KIF1A):c.429+13G>A
|
rs777803050
|
0.00001
|
|
NM_001244008.2(KIF1A):c.429+20G>A
|
rs373887823
|
0.00001
|
|
NM_001244008.2(KIF1A):c.429+8T>C
|
rs776547477
|
0.00001
|
|
NM_001244008.2(KIF1A):c.4297G>A (p.Val1433Met)
|
rs879253922
|
0.00001
|
|
NM_001244008.2(KIF1A):c.4332G>A (p.Arg1444=)
|
rs776552179
|
0.00001
|
|
NM_001244008.2(KIF1A):c.4333C>T (p.Arg1445Cys)
|
rs573782102
|
0.00001
|
|
NM_001244008.2(KIF1A):c.4334G>A (p.Arg1445His)
|
rs765877669
|
0.00001
|
|
NM_001244008.2(KIF1A):c.4370G>A (p.Arg1457Gln)
|
rs1460326204
|
0.00001
|
|
NM_001244008.2(KIF1A):c.438C>T (p.Tyr146=)
|
rs768547259
|
0.00001
|
|
NM_001244008.2(KIF1A):c.4391G>T (p.Gly1464Val)
|
rs1477553245
|
0.00001
|
|
NM_001244008.2(KIF1A):c.440T>A (p.Met147Lys)
|
rs1369791205
|
0.00001
|
|
NM_001244008.2(KIF1A):c.4465-15G>A
|
rs1311217997
|
0.00001
|
|
NM_001244008.2(KIF1A):c.4496G>A (p.Arg1499Gln)
|
rs866211603
|
0.00001
|
|
NM_001244008.2(KIF1A):c.450C>T (p.Tyr150=)
|
rs1419168988
|
0.00001
|
|
NM_001244008.2(KIF1A):c.4513G>A (p.Ala1505Thr)
|
rs915433180
|
0.00001
|
|
NM_001244008.2(KIF1A):c.4519C>T (p.Arg1507Trp)
|
rs755721997
|
0.00001
|
|
NM_001244008.2(KIF1A):c.4521G>T (p.Arg1507=)
|
rs1181895449
|
0.00001
|
|
NM_001244008.2(KIF1A):c.4529C>T (p.Pro1510Leu)
|
rs368005947
|
0.00001
|
|
NM_001244008.2(KIF1A):c.4544C>T (p.Pro1515Leu)
|
rs867230401
|
0.00001
|
|
NM_001244008.2(KIF1A):c.4555G>A (p.Glu1519Lys)
|
rs769965899
|
0.00001
|
|
NM_001244008.2(KIF1A):c.4563T>C (p.Ser1521=)
|
rs2045535007
|
0.00001
|
|
NM_001244008.2(KIF1A):c.4568C>T (p.Ser1523Phe)
|
rs1157791693
|
0.00001
|
|
NM_001244008.2(KIF1A):c.4592C>T (p.Ser1531Phe)
|
rs748858949
|
0.00001
|
|
NM_001244008.2(KIF1A):c.45C>T (p.Phe15=)
|
rs895273323
|
0.00001
|
|
NM_001244008.2(KIF1A):c.4633C>A (p.Pro1545Thr)
|
rs1422413312
|
0.00001
|
|
NM_001244008.2(KIF1A):c.4648C>T (p.Arg1550Trp)
|
rs1468401006
|
0.00001
|
|
NM_001244008.2(KIF1A):c.4649G>A (p.Arg1550Gln)
|
rs952804990
|
0.00001
|
|
NM_001244008.2(KIF1A):c.4649G>C (p.Arg1550Pro)
|
rs952804990
|
0.00001
|
|
NM_001244008.2(KIF1A):c.4651_4665+7dup
|
rs2045520957
|
0.00001
|
|
NM_001244008.2(KIF1A):c.4665+19C>T
|
rs1439948853
|
0.00001
|
|
NM_001244008.2(KIF1A):c.4689A>G (p.Thr1563=)
|
rs1349816382
|
0.00001
|
|
NM_001244008.2(KIF1A):c.471C>T (p.Leu157=)
|
rs368414611
|
0.00001
|
|
NM_001244008.2(KIF1A):c.4722C>T (p.Cys1574=)
|
rs373532949
|
0.00001
|
|
NM_001244008.2(KIF1A):c.4744-20A>G
|
rs1457429470
|
0.00001
|
|
NM_001244008.2(KIF1A):c.4750G>A (p.Glu1584Lys)
|
rs770455518
|
0.00001
|
|
NM_001244008.2(KIF1A):c.4762A>G (p.Thr1588Ala)
|
rs1280317566
|
0.00001
|
|
NM_001244008.2(KIF1A):c.4790C>T (p.Pro1597Leu)
|
rs374417779
|
0.00001
|
|
NM_001244008.2(KIF1A):c.4809C>T (p.Leu1603=)
|
rs75666979
|
0.00001
|
|
NM_001244008.2(KIF1A):c.480C>G (p.Pro160=)
|
rs1229926101
|
0.00001
|
|
NM_001244008.2(KIF1A):c.4811C>G (p.Thr1604Ser)
|
rs982977592
|
0.00001
|
|
NM_001244008.2(KIF1A):c.483G>A (p.Lys161=)
|
rs2054759177
|
0.00001
|
|
NM_001244008.2(KIF1A):c.4864C>T (p.Leu1622=)
|
rs1553624720
|
0.00001
|
|
NM_001244008.2(KIF1A):c.4869G>A (p.Arg1623=)
|
rs372521322
|
0.00001
|
|
NM_001244008.2(KIF1A):c.4874C>T (p.Pro1625Leu)
|
rs567604039
|
0.00001
|
|
NM_001244008.2(KIF1A):c.4880C>T (p.Pro1627Leu)
|
rs763752868
|
0.00001
|
|
NM_001244008.2(KIF1A):c.4881C>T (p.Pro1627=)
|
rs1255364051
|
0.00001
|
|
NM_001244008.2(KIF1A):c.4908C>T (p.Pro1636=)
|
rs759393763
|
0.00001
|
|
NM_001244008.2(KIF1A):c.4911G>A (p.Glu1637=)
|
rs1372917042
|
0.00001
|
|
NM_001244008.2(KIF1A):c.4952C>T (p.Ala1651Val)
|
rs369475699
|
0.00001
|
|
NM_001244008.2(KIF1A):c.4954C>T (p.Arg1652Trp)
|
rs746442427
|
0.00001
|
|
NM_001244008.2(KIF1A):c.4971C>A (p.Asp1657Glu)
|
rs184939069
|
0.00001
|
|
NM_001244008.2(KIF1A):c.499C>T (p.Arg167Cys)
|
rs672601365
|
0.00001
|
|
NM_001244008.2(KIF1A):c.5021+6T>C
|
rs1179810798
|
0.00001
|
|
NM_001244008.2(KIF1A):c.5024C>T (p.Pro1675Leu)
|
rs779705838
|
0.00001
|
|
NM_001244008.2(KIF1A):c.5027T>C (p.Ile1676Thr)
|
rs372664825
|
0.00001
|
|
NM_001244008.2(KIF1A):c.5046C>T (p.Tyr1682=)
|
rs763144444
|
0.00001
|
|
NM_001244008.2(KIF1A):c.5067C>T (p.His1689=)
|
rs771269616
|
0.00001
|
|
NM_001244008.2(KIF1A):c.5069C>T (p.Thr1690Met)
|
rs1468911667
|
0.00001
|
|
NM_001244008.2(KIF1A):c.5095G>A (p.Val1699Met)
|
rs1559472826
|
0.00001
|
|
NM_001244008.2(KIF1A):c.5102G>A (p.Arg1701Gln)
|
rs780828140
|
0.00001
|
|
NM_001244008.2(KIF1A):c.5143G>A (p.Val1715Met)
|
rs766569322
|
0.00001
|
|
NM_001244008.2(KIF1A):c.5167G>A (p.Ala1723Thr)
|
rs879253903
|
0.00001
|
|
NM_001244008.2(KIF1A):c.5178G>C (p.Gln1726His)
|
rs1461644464
|
0.00001
|
|
NM_001244008.2(KIF1A):c.5184G>A (p.Glu1728=)
|
rs1441709046
|
0.00001
|
|
NM_001244008.2(KIF1A):c.5188A>G (p.Ser1730Gly)
|
rs776169659
|
0.00001
|
|
NM_001244008.2(KIF1A):c.5216C>T (p.Thr1739Ile)
|
rs371267255
|
0.00001
|
|
NM_001244008.2(KIF1A):c.5226A>G (p.Thr1742=)
|
rs1014899412
|
0.00001
|
|
NM_001244008.2(KIF1A):c.5229C>T (p.Phe1743=)
|
rs377694236
|
0.00001
|
|
NM_001244008.2(KIF1A):c.5248C>T (p.Arg1750Cys)
|
rs1396029721
|
0.00001
|
|
NM_001244008.2(KIF1A):c.5271C>T (p.Ala1757=)
|
rs995451127
|
0.00001
|
|
NM_001244008.2(KIF1A):c.5274C>T (p.Ser1758=)
|
rs899778611
|
0.00001
|
|
NM_001244008.2(KIF1A):c.5289T>C (p.His1763=)
|
rs768316049
|
0.00001
|
|
NM_001244008.2(KIF1A):c.5291A>G (p.Asp1764Gly)
|
rs1202293305
|
0.00001
|
|
NM_001244008.2(KIF1A):c.52C>T (p.Arg18Trp)
|
rs2056556566
|
0.00001
|
|
NM_001244008.2(KIF1A):c.5333+18G>A
|
rs372473134
|
0.00001
|
|
NM_001244008.2(KIF1A):c.5333+20G>A
|
rs749916994
|
0.00001
|
|
NM_001244008.2(KIF1A):c.5339A>G (p.Lys1780Arg)
|
rs748416328
|
0.00001
|
|
NM_001244008.2(KIF1A):c.5369G>A (p.Arg1790Gln)
|
rs1349426679
|
0.00001
|
|
NM_001244008.2(KIF1A):c.5371G>T (p.Val1791Phe)
|
rs1188028936
|
0.00001
|
|
NM_001244008.2(KIF1A):c.540C>T (p.Asp180=)
|
rs766172551
|
0.00001
|
|
NM_001244008.2(KIF1A):c.560C>T (p.Thr187Ile)
|
rs370623844
|
0.00001
|
|
NM_001244008.2(KIF1A):c.608+14C>T
|
rs1223745984
|
0.00001
|
|
NM_001244008.2(KIF1A):c.608+19T>C
|
rs1164290549
|
0.00001
|
|
NM_001244008.2(KIF1A):c.609-20C>T
|
rs571736481
|
0.00001
|
|
NM_001244008.2(KIF1A):c.627C>T (p.Asn209=)
|
rs1418489378
|
0.00001
|
|
NM_001244008.2(KIF1A):c.639C>T (p.Thr213=)
|
rs375365975
|
0.00001
|
|
NM_001244008.2(KIF1A):c.65G>A (p.Arg22His)
|
rs761521912
|
0.00001
|
|
NM_001244008.2(KIF1A):c.672C>A (p.Ile224=)
|
rs376320868
|
0.00001
|
|
NM_001244008.2(KIF1A):c.685C>T (p.Arg229Cys)
|
rs776660768
|
0.00001
|
|
NM_001244008.2(KIF1A):c.686G>A (p.Arg229His)
|
rs771122739
|
0.00001
|
|
NM_001244008.2(KIF1A):c.687C>G (p.Arg229=)
|
rs1227979792
|
0.00001
|
|
NM_001244008.2(KIF1A):c.693C>T (p.Asp231=)
|
rs772411022
|
0.00001
|
|
NM_001244008.2(KIF1A):c.694G>A (p.Ala232Thr)
|
rs1358119741
|
0.00001
|
|
NM_001244008.2(KIF1A):c.69C>T (p.Asp23=)
|
rs774350715
|
0.00001
|
|
NM_001244008.2(KIF1A):c.720+9del
|
rs2054540799
|
0.00001
|
|
NM_001244008.2(KIF1A):c.747G>A (p.Leu249=)
|
rs750443593
|
0.00001
|
|
NM_001244008.2(KIF1A):c.75G>C (p.Lys25Asn)
|
rs768320178
|
0.00001
|
|
NM_001244008.2(KIF1A):c.788C>T (p.Thr263Met)
|
rs868837727
|
0.00001
|
|
NM_001244008.2(KIF1A):c.791G>T (p.Arg264Leu)
|
rs1413440372
|
0.00001
|
|
NM_001244008.2(KIF1A):c.798+15G>A
|
rs1332274251
|
0.00001
|
|
NM_001244008.2(KIF1A):c.799-4G>A
|
rs759945798
|
0.00001
|
|
NM_001244008.2(KIF1A):c.799-5C>T
|
rs1328471853
|
0.00001
|
|
NM_001244008.2(KIF1A):c.837C>T (p.Gly279=)
|
rs2054277811
|
0.00001
|
|
NM_001244008.2(KIF1A):c.843C>A (p.Val281=)
|
rs367790793
|
0.00001
|
|
NM_001244008.2(KIF1A):c.844A>G (p.Ile282Val)
|
rs2054277083
|
0.00001
|
|
NM_001244008.2(KIF1A):c.864+12G>A
|
rs374282628
|
0.00001
|
|
NM_001244008.2(KIF1A):c.865G>C (p.Asp289His)
|
rs1162579551
|
0.00001
|
|
NM_001244008.2(KIF1A):c.876C>T (p.Pro292=)
|
rs902561000
|
0.00001
|
|
NM_001244008.2(KIF1A):c.877A>T (p.Asn293Tyr)
|
rs1042391791
|
0.00001
|
|
NM_001244008.2(KIF1A):c.878A>G (p.Asn293Ser)
|
rs747127041
|
0.00001
|
|
NM_001244008.2(KIF1A):c.879C>T (p.Asn293=)
|
rs897263036
|
0.00001
|
|
NM_001244008.2(KIF1A):c.881A>G (p.Lys294Arg)
|
rs946682837
|
0.00001
|
|
NM_001244008.2(KIF1A):c.883-8C>T
|
rs372514891
|
0.00001
|
|
NM_001244008.2(KIF1A):c.883-9C>G
|
rs533309945
|
0.00001
|
|
NM_001244008.2(KIF1A):c.890A>G (p.Lys297Arg)
|
rs1250934752
|
0.00001
|
|
NM_001244008.2(KIF1A):c.903A>T (p.Thr301=)
|
rs372053086
|
0.00001
|
|
NM_001244008.2(KIF1A):c.915G>A (p.Pro305=)
|
rs772005441
|
0.00001
|
|
NM_001244008.2(KIF1A):c.919C>T (p.Arg307Ter)
|
rs369692236
|
0.00001
|
|
NM_001244008.2(KIF1A):c.959-16G>C
|
rs371447665
|
0.00001
|
|
NM_001253852.3(AP4B1):c.1057C>T (p.Arg353Ter)
|
rs138335735
|
0.00001
|
|
NM_001253852.3(AP4B1):c.1111A>G (p.Ile371Val)
|
rs797045242
|
0.00001
|
|
NM_001253852.3(AP4B1):c.1114+9C>T
|
rs1478207935
|
0.00001
|
|
NM_001253852.3(AP4B1):c.1115-2A>G
|
rs1210851910
|
0.00001
|
|
NM_001253852.3(AP4B1):c.112A>G (p.Arg38Gly)
|
rs773391519
|
0.00001
|
|
NM_001253852.3(AP4B1):c.114-2A>G
|
rs879255396
|
0.00001
|
|
NM_001253852.3(AP4B1):c.1144T>C (p.Cys382Arg)
|
rs781635999
|
0.00001
|
|
NM_001253852.3(AP4B1):c.1215C>T (p.Phe405=)
|
rs759899315
|
0.00001
|
|
NM_001253852.3(AP4B1):c.1216C>T (p.Arg406Ter)
|
rs776976178
|
0.00001
|
|
NM_001253852.3(AP4B1):c.1273G>A (p.Gly425Ser)
|
rs777033290
|
0.00001
|
|
NM_001253852.3(AP4B1):c.1284G>A (p.Glu428=)
|
rs752215351
|
0.00001
|
|
NM_001253852.3(AP4B1):c.1526T>C (p.Met509Thr)
|
rs1043676103
|
0.00001
|
|
NM_001253852.3(AP4B1):c.1540C>T (p.Arg514Ter)
|
rs767220480
|
0.00001
|
|
NM_001253852.3(AP4B1):c.1553A>G (p.Tyr518Cys)
|
rs1265334140
|
0.00001
|
|
NM_001253852.3(AP4B1):c.1697T>C (p.Val566Ala)
|
rs373733045
|
0.00001
|
|
NM_001253852.3(AP4B1):c.1744G>A (p.Glu582Lys)
|
rs779319072
|
0.00001
|
|
NM_001253852.3(AP4B1):c.1839T>G (p.Pro613=)
|
rs549517422
|
0.00001
|
|
NM_001253852.3(AP4B1):c.2066C>T (p.Thr689Ile)
|
rs768141876
|
0.00001
|
|
NM_001253852.3(AP4B1):c.211T>C (p.Tyr71His)
|
rs1186934233
|
0.00001
|
|
NM_001253852.3(AP4B1):c.2145A>T (p.Ala715=)
|
rs969793953
|
0.00001
|
|
NM_001253852.3(AP4B1):c.215T>C (p.Met72Thr)
|
rs566369623
|
0.00001
|
|
NM_001253852.3(AP4B1):c.222A>G (p.Thr74=)
|
rs1439180952
|
0.00001
|
|
NM_001253852.3(AP4B1):c.266C>T (p.Thr89Met)
|
rs1454940627
|
0.00001
|
|
NM_001253852.3(AP4B1):c.372T>C (p.Pro124=)
|
rs1668308067
|
0.00001
|
|
NM_001253852.3(AP4B1):c.506G>A (p.Arg169His)
|
rs144490934
|
0.00001
|
|
NM_001253852.3(AP4B1):c.52T>G (p.Cys18Gly)
|
rs777755720
|
0.00001
|
|
NM_001253852.3(AP4B1):c.56A>G (p.Asn19Ser)
|
rs758302124
|
0.00001
|
|
NM_001253852.3(AP4B1):c.594C>T (p.Pro198=)
|
rs766215887
|
0.00001
|
|
NM_001253852.3(AP4B1):c.616C>G (p.Arg206Gly)
|
rs762612591
|
0.00001
|
|
NM_001253852.3(AP4B1):c.617+16C>T
|
rs1046613270
|
0.00001
|
|
NM_001253852.3(AP4B1):c.618-16T>G
|
rs772575711
|
0.00001
|
|
NM_001253852.3(AP4B1):c.618-3T>C
|
rs755780191
|
0.00001
|
|
NM_001253852.3(AP4B1):c.671G>A (p.Arg224His)
|
rs968023503
|
0.00001
|
|
NM_001253852.3(AP4B1):c.749G>A (p.Gly250Asp)
|
rs778029639
|
0.00001
|
|
NM_001253852.3(AP4B1):c.804C>T (p.His268=)
|
rs762267301
|
0.00001
|
|
NM_001253852.3(AP4B1):c.91A>C (p.Asn31His)
|
rs753932633
|
0.00001
|
|
NM_001253852.3(AP4B1):c.924A>G (p.Pro308=)
|
rs1256078127
|
0.00001
|
|
NM_001271803.2(REEP2):c.202C>T (p.Leu68=)
|
rs769491520
|
0.00001
|
|
NM_001271803.2(REEP2):c.350C>T (p.Thr117Ile)
|
rs1763895130
|
0.00001
|
|
NM_001271803.2(REEP2):c.517C>T (p.Arg173Cys)
|
rs370729450
|
0.00001
|
|
NM_001271803.2(REEP2):c.523C>T (p.Arg175Ter)
|
rs752698231
|
0.00001
|
|
NM_001271803.2(REEP2):c.540C>T (p.Ser180=)
|
rs1371022332
|
0.00001
|
|
NM_001271803.2(REEP2):c.697-3C>T
|
rs1288777628
|
0.00001
|
|
NM_001271803.2(REEP2):c.748G>A (p.Gly250Arg)
|
rs1330664969
|
0.00001
|
|
NM_001278116.2(L1CAM):c.1147C>T (p.Arg383Trp)
|
rs782361186
|
0.00001
|
|
NM_001278116.2(L1CAM):c.3000C>T (p.Gly1000=)
|
rs149420127
|
0.00001
|
|
NM_001278116.2(L1CAM):c.3118G>A (p.Glu1040Lys)
|
rs1557090130
|
0.00001
|
|
NM_001278116.2(L1CAM):c.3169G>A (p.Glu1057Lys)
|
rs782180684
|
0.00001
|
|
NM_001278116.2(L1CAM):c.3654G>C (p.Gln1218His)
|
rs1369743518
|
0.00001
|
|
NM_001351169.2(NT5C2):c.1044T>C (p.Tyr348=)
|
rs781453727
|
0.00001
|
|
NM_001351169.2(NT5C2):c.1407G>A (p.Leu469=)
|
rs142965385
|
0.00001
|
|
NM_001351169.2(NT5C2):c.1413C>T (p.Tyr471=)
|
rs138710030
|
0.00001
|
|
NM_001351169.2(NT5C2):c.1450-8C>G
|
rs1298594704
|
0.00001
|
|
NM_001351169.2(NT5C2):c.1467G>A (p.Thr489=)
|
rs368637290
|
0.00001
|
|
NM_001351169.2(NT5C2):c.1562G>A (p.Arg521Gln)
|
rs774169900
|
0.00001
|
|
NM_001351169.2(NT5C2):c.1644T>C (p.His548=)
|
rs1158434429
|
0.00001
|
|
NM_001351169.2(NT5C2):c.1671G>A (p.Glu557=)
|
rs553419003
|
0.00001
|
|
NM_001351169.2(NT5C2):c.1674G>A (p.Glu558=)
|
rs893373835
|
0.00001
|
|
NM_001351169.2(NT5C2):c.430C>T (p.Arg144Ter)
|
rs764453448
|
0.00001
|
|
NM_001351169.2(NT5C2):c.57G>C (p.Met19Ile)
|
rs762854961
|
0.00001
|
|
NM_001351169.2(NT5C2):c.810C>A (p.Pro270=)
|
rs1313695837
|
0.00001
|
|
NM_001368809.2(AMPD2):c.-151T>C
|
rs748788622
|
0.00001
|
|
NM_001368809.2(AMPD2):c.-161T>G
|
rs769851350
|
0.00001
|
|
NM_001368809.2(AMPD2):c.-18G>T
|
rs772899120
|
0.00001
|
|
NM_001368809.2(AMPD2):c.-38G>A
|
rs1650212785
|
0.00001
|
|
NM_001368809.2(AMPD2):c.-75G>T
|
rs1025210705
|
0.00001
|
|
NM_001368809.2(AMPD2):c.1011A>G (p.Leu337=)
|
rs1048375978
|
0.00001
|
|
NM_001368809.2(AMPD2):c.106C>G (p.Leu36Val)
|
rs749918422
|
0.00001
|
|
NM_001368809.2(AMPD2):c.1103C>T (p.Ser368Leu)
|
rs1340521500
|
0.00001
|
|
NM_001368809.2(AMPD2):c.1202C>T (p.Thr401Met)
|
rs751131036
|
0.00001
|
|
NM_001368809.2(AMPD2):c.134G>A (p.Arg45Gln)
|
rs771577116
|
0.00001
|
|
NM_001368809.2(AMPD2):c.1571+9C>T
|
rs991003516
|
0.00001
|
|
NM_001368809.2(AMPD2):c.1583G>A (p.Arg528His)
|
rs772541636
|
0.00001
|
|
NM_001368809.2(AMPD2):c.1644C>T (p.Phe548=)
|
rs758218441
|
0.00001
|
|
NM_001368809.2(AMPD2):c.1652C>G (p.Thr551Ser)
|
rs370528133
|
0.00001
|
|
NM_001368809.2(AMPD2):c.1745A>G (p.His582Arg)
|
rs539379857
|
0.00001
|
|
NM_001368809.2(AMPD2):c.1779G>A (p.Ala593=)
|
rs767362652
|
0.00001
|
|
NM_001368809.2(AMPD2):c.177C>T (p.Leu59=)
|
rs753496081
|
0.00001
|
|
NM_001368809.2(AMPD2):c.1859G>A (p.Arg620His)
|
rs587777395
|
0.00001
|
|
NM_001368809.2(AMPD2):c.189G>A (p.Thr63=)
|
rs745929697
|
0.00001
|
|
NM_001368809.2(AMPD2):c.2039C>T (p.Pro680Leu)
|
rs761542502
|
0.00001
|
|
NM_001368809.2(AMPD2):c.216C>T (p.Ile72=)
|
rs1351463033
|
0.00001
|
|
NM_001368809.2(AMPD2):c.21C>T (p.Gly7=)
|
rs762011633
|
0.00001
|
|
NM_001368809.2(AMPD2):c.2365C>T (p.Arg789Cys)
|
rs1253216358
|
0.00001
|
|
NM_001368809.2(AMPD2):c.236G>A (p.Arg79His)
|
rs1308492888
|
0.00001
|
|
NM_001368809.2(AMPD2):c.288G>C (p.Glu96Asp)
|
rs745350160
|
0.00001
|
|
NM_001368809.2(AMPD2):c.387A>G (p.Gln129=)
|
rs1399925815
|
0.00001
|
|
NM_001368809.2(AMPD2):c.415G>C (p.Asp139His)
|
rs200750655
|
0.00001
|
|
NM_001368809.2(AMPD2):c.428A>G (p.Tyr143Cys)
|
rs575582124
|
0.00001
|
|
NM_001368809.2(AMPD2):c.536C>T (p.Pro179Leu)
|
rs567095077
|
0.00001
|
|
NM_001368809.2(AMPD2):c.602T>C (p.Met201Thr)
|
rs748621330
|
0.00001
|
|
NM_001368809.2(AMPD2):c.699C>T (p.Pro233=)
|
rs778185309
|
0.00001
|
|
NM_001368809.2(AMPD2):c.725C>T (p.Pro242Leu)
|
rs768283469
|
0.00001
|
|
NM_001368809.2(AMPD2):c.837C>T (p.Tyr279=)
|
rs1369584235
|
0.00001
|
|
NM_001368809.2(AMPD2):c.856G>A (p.Glu286Lys)
|
rs1255257133
|
0.00001
|
|
NM_001368809.2(AMPD2):c.929C>T (p.Ala310Val)
|
rs771408289
|
0.00001
|
|
NM_001368809.2(AMPD2):c.970C>T (p.Arg324Trp)
|
rs776868175
|
0.00001
|
|
NM_001371279.1(REEP1):c.*1163A>G
|
rs886056407
|
0.00001
|
|
NM_001371279.1(REEP1):c.*1435G>A
|
rs368970831
|
0.00001
|
|
NM_001371279.1(REEP1):c.*1819G>A
|
rs1173252698
|
0.00001
|
|
NM_001371279.1(REEP1):c.*93G>A
|
rs1486206487
|
0.00001
|
|
NM_001371279.1(REEP1):c.106-6C>G
|
rs751690452
|
0.00001
|
|
NM_001371279.1(REEP1):c.10T>G (p.Trp4Gly)
|
rs863224189
|
0.00001
|
|
NM_001371279.1(REEP1):c.183-8C>G
|
rs1405827641
|
0.00001
|
|
NM_001371279.1(REEP1):c.198T>C (p.Tyr66=)
|
rs1444613668
|
0.00001
|
|
NM_001371279.1(REEP1):c.293C>T (p.Ser98Leu)
|
rs766247706
|
0.00001
|
|
NM_001371279.1(REEP1):c.336C>T (p.Asp112=)
|
rs867308226
|
0.00001
|
|
NM_001371279.1(REEP1):c.338G>A (p.Arg113Gln)
|
rs985433681
|
0.00001
|
|
NM_001371279.1(REEP1):c.353T>C (p.Leu118Pro)
|
rs1553461156
|
0.00001
|
|
NM_001371279.1(REEP1):c.388G>A (p.Ala130Thr)
|
rs777316624
|
0.00001
|
|
NM_001371279.1(REEP1):c.391A>G (p.Thr131Ala)
|
rs1558889637
|
0.00001
|
|
NM_001371279.1(REEP1):c.400G>A (p.Val134Met)
|
rs747398780
|
0.00001
|
|
NM_001371279.1(REEP1):c.435G>A (p.Ser145=)
|
rs769926270
|
0.00001
|
|
NM_001371279.1(REEP1):c.446G>A (p.Arg149Gln)
|
rs896564103
|
0.00001
|
|
NM_001371279.1(REEP1):c.521G>C (p.Gly174Ala)
|
rs1279009965
|
0.00001
|
|
NM_001371279.1(REEP1):c.538G>A (p.Gly180Ser)
|
rs748917788
|
0.00001
|
|
NM_001371279.1(REEP1):c.545A>C (p.His182Pro)
|
rs1675091136
|
0.00001
|
|
NM_001371279.1(REEP1):c.569G>A (p.Ser190Asn)
|
rs1425896792
|
0.00001
|
|
NM_001371279.1(REEP1):c.57T>C (p.Pro19=)
|
rs943579285
|
0.00001
|
|
NM_001371279.1(REEP1):c.595+14T>C
|
rs115971425
|
0.00001
|
|
NM_001371279.1(REEP1):c.784-5A>G
|
rs1356865335
|
0.00001
|
|
NM_001371279.1(REEP1):c.788C>T (p.Pro263Leu)
|
rs758721888
|
0.00001
|
|
NM_001371279.1(REEP1):c.836C>T (p.Ser279Leu)
|
rs148490065
|
0.00001
|
|
NM_001371279.1(REEP1):c.94A>G (p.Ile32Val)
|
rs745678615
|
0.00001
|
|
NM_001371279.1(REEP1):c.9A>G (p.Ser3=)
|
rs1284381587
|
0.00001
|
|
NM_001385875.1(ZFYVE27):c.*1283C>T
|
rs886047531
|
0.00001
|
|
NM_001385875.1(ZFYVE27):c.*1340G>C
|
rs886047532
|
0.00001
|
|
NM_001385875.1(ZFYVE27):c.*1450G>A
|
rs886047533
|
0.00001
|
|
NM_001385875.1(ZFYVE27):c.*223G>C
|
rs886047527
|
0.00001
|
|
NM_001385875.1(ZFYVE27):c.*678A>C
|
rs886047528
|
0.00001
|
|
NM_001385875.1(ZFYVE27):c.37C>G (p.Leu13Val)
|
rs748886337
|
0.00001
|
|
NM_001385875.1(ZFYVE27):c.386G>A (p.Ser129Asn)
|
rs763464659
|
0.00001
|
|
NM_001385875.1(ZFYVE27):c.551+14C>T
|
rs554334501
|
0.00001
|
|
NM_001478.5(B4GALNT1):c.1088C>G (p.Ala363Gly)
|
rs1344371363
|
0.00001
|
|
NM_001478.5(B4GALNT1):c.682C>T (p.Arg228Ter)
|
rs398122382
|
0.00001
|
|
NM_001776.6(ENTPD1):c.*7C>T
|
rs754891950
|
0.00001
|
|
NM_001776.6(ENTPD1):c.1065G>T (p.Gly355=)
|
rs779604340
|
0.00001
|
|
NM_001776.6(ENTPD1):c.1119A>G (p.Thr373=)
|
rs772314516
|
0.00001
|
|
NM_001776.6(ENTPD1):c.1137G>C (p.Gln379His)
|
rs994434491
|
0.00001
|
|
NM_001776.6(ENTPD1):c.1146G>T (p.Val382=)
|
rs371715493
|
0.00001
|
|
NM_001776.6(ENTPD1):c.1188+4A>G
|
rs780832950
|
0.00001
|
|
NM_001776.6(ENTPD1):c.1289C>T (p.Thr430Ile)
|
rs758827298
|
0.00001
|
|
NM_001776.6(ENTPD1):c.1356G>A (p.Leu452=)
|
rs372922890
|
0.00001
|
|
NM_001776.6(ENTPD1):c.139G>A (p.Val47Ile)
|
rs771708732
|
0.00001
|
|
NM_001776.6(ENTPD1):c.1411C>G (p.Pro471Ala)
|
rs1173015974
|
0.00001
|
|
NM_001776.6(ENTPD1):c.1462C>G (p.Leu488Val)
|
rs1434376009
|
0.00001
|
|
NM_001776.6(ENTPD1):c.329A>T (p.Glu110Val)
|
rs751335015
|
0.00001
|
|
NM_001776.6(ENTPD1):c.401T>G (p.Met134Arg)
|
rs1480686371
|
0.00001
|
|
NM_001776.6(ENTPD1):c.491A>G (p.Gln164Arg)
|
rs748573011
|
0.00001
|
|
NM_001776.6(ENTPD1):c.595G>A (p.Val199Ile)
|
rs911744459
|
0.00001
|
|
NM_001776.6(ENTPD1):c.599C>T (p.Pro200Leu)
|
rs147932314
|
0.00001
|
|
NM_001776.6(ENTPD1):c.684G>A (p.Gln228=)
|
rs1337866354
|
0.00001
|
|
NM_001776.6(ENTPD1):c.941T>C (p.Phe314Ser)
|
rs774867224
|
0.00001
|
|
NM_002156.5(HSPD1):c.*313A>G
|
rs563815280
|
0.00001
|
|
NM_002156.5(HSPD1):c.-13C>T
|
rs1430779790
|
0.00001
|
|
NM_002156.5(HSPD1):c.1009G>A (p.Val337Ile)
|
rs755920309
|
0.00001
|
|
NM_002156.5(HSPD1):c.1207G>A (p.Val403Met)
|
rs886055386
|
0.00001
|
|
NM_002156.5(HSPD1):c.429T>C (p.Gly143=)
|
rs886055389
|
0.00001
|
|
NM_002156.5(HSPD1):c.869+12T>C
|
rs781462822
|
0.00001
|
|
NM_002361.4(MAG):c.1000A>T (p.Thr334Ser)
|
rs763171002
|
0.00001
|
|
NM_002361.4(MAG):c.1017G>T (p.Glu339Asp)
|
rs750691038
|
0.00001
|
|
NM_002361.4(MAG):c.1138C>T (p.Pro380Ser)
|
rs201899456
|
0.00001
|
|
NM_002361.4(MAG):c.1265C>T (p.Ala422Val)
|
rs1456256662
|
0.00001
|
|
NM_002361.4(MAG):c.1270G>A (p.Ala424Thr)
|
rs1434326122
|
0.00001
|
|
NM_002361.4(MAG):c.127C>T (p.Arg43Cys)
|
rs745533880
|
0.00001
|
|
NM_002361.4(MAG):c.1393C>T (p.Arg465Cys)
|
rs2066514711
|
0.00001
|
|
NM_002361.4(MAG):c.157G>A (p.Ala53Thr)
|
rs759758253
|
0.00001
|
|
NM_002361.4(MAG):c.1646C>T (p.Ser549Leu)
|
rs767886169
|
0.00001
|
|
NM_002361.4(MAG):c.1681G>A (p.Asp561Asn)
|
rs201165241
|
0.00001
|
|
NM_002361.4(MAG):c.1857G>A (p.Glu619=)
|
rs200278152
|
0.00001
|
|
NM_002361.4(MAG):c.252C>A (p.Ser84Arg)
|
rs763042714
|
0.00001
|
|
NM_002361.4(MAG):c.415+14G>A
|
rs1346731923
|
0.00001
|
|
NM_002361.4(MAG):c.416-6G>A
|
rs759995393
|
0.00001
|
|
NM_002361.4(MAG):c.471C>T (p.Val157=)
|
rs537215744
|
0.00001
|
|
NM_002361.4(MAG):c.569G>A (p.Arg190Gln)
|
rs760694257
|
0.00001
|
|
NM_002361.4(MAG):c.61C>T (p.His21Tyr)
|
rs370825816
|
0.00001
|
|
NM_002361.4(MAG):c.668A>G (p.Asn223Ser)
|
rs1471804208
|
0.00001
|
|
NM_002361.4(MAG):c.699C>G (p.Ser233Arg)
|
rs1348797051
|
0.00001
|
|
NM_002361.4(MAG):c.899A>G (p.Asp300Gly)
|
rs1216189764
|
0.00001
|
|
NM_002361.4(MAG):c.971-14G>A
|
rs778873158
|
0.00001
|
|
NM_002361.4(MAG):c.997G>A (p.Gly333Arg)
|
rs199764089
|
0.00001
|
|
NM_002693.3(POLG):c.1369C>T (p.Arg457Trp)
|
rs766242100
|
0.00001
|
|
NM_002693.3(POLG):c.3443G>A (p.Arg1148His)
|
rs145004638
|
0.00001
|
|
NM_002693.3(POLG):c.3586G>A (p.Asp1196Asn)
|
rs765344513
|
0.00001
|
|
NM_002693.3(POLG):c.38C>G (p.Thr13Ser)
|
rs1199924512
|
0.00001
|
|
NM_002693.3(POLG):c.479C>T (p.Ala160Val)
|
rs1304711656
|
0.00001
|
|
NM_002693.3(POLG):c.484C>T (p.Leu162=)
|
rs375445567
|
0.00001
|
|
NM_002860.4(ALDH18A1):c.1041G>A (p.Lys347=)
|
rs2097862079
|
0.00001
|
|
NM_002860.4(ALDH18A1):c.1201G>A (p.Asp401Asn)
|
rs1242600175
|
0.00001
|
|
NM_002860.4(ALDH18A1):c.1233G>T (p.Leu411Phe)
|
rs758828421
|
0.00001
|
|
NM_002860.4(ALDH18A1):c.1247-19C>G
|
rs772575442
|
0.00001
|
|
NM_002860.4(ALDH18A1):c.1274G>C (p.Arg425Pro)
|
rs1413173287
|
0.00001
|
|
NM_002860.4(ALDH18A1):c.1315G>A (p.Gly439Ser)
|
rs141292408
|
0.00001
|
|
NM_002860.4(ALDH18A1):c.1320G>A (p.Leu440=)
|
rs537092003
|
0.00001
|
|
NM_002860.4(ALDH18A1):c.1335C>T (p.Ala445=)
|
rs771965130
|
0.00001
|
|
NM_002860.4(ALDH18A1):c.1363T>C (p.Leu455=)
|
rs753823851
|
0.00001
|
|
NM_002860.4(ALDH18A1):c.1448G>A (p.Arg483His)
|
rs756168752
|
0.00001
|
|
NM_002860.4(ALDH18A1):c.1481C>T (p.Ala494Val)
|
rs762154638
|
0.00001
|
|
NM_002860.4(ALDH18A1):c.1493G>T (p.Gly498Val)
|
rs569086681
|
0.00001
|
|
NM_002860.4(ALDH18A1):c.1589A>C (p.Lys530Thr)
|
rs560598479
|
0.00001
|
|
NM_002860.4(ALDH18A1):c.1598T>G (p.Val533Gly)
|
rs796197665
|
0.00001
|
|
NM_002860.4(ALDH18A1):c.1635T>C (p.Leu545=)
|
rs368774840
|
0.00001
|
|
NM_002860.4(ALDH18A1):c.1636T>C (p.Cys546Arg)
|
rs753157831
|
0.00001
|
|
NM_002860.4(ALDH18A1):c.164G>A (p.Arg55His)
|
rs754880517
|
0.00001
|
|
NM_002860.4(ALDH18A1):c.1732G>C (p.Gly578Arg)
|
rs1085307606
|
0.00001
|
|
NM_002860.4(ALDH18A1):c.1741G>A (p.Glu581Lys)
|
rs777991529
|
0.00001
|
|
NM_002860.4(ALDH18A1):c.1797G>C (p.Arg599Ser)
|
rs752764884
|
0.00001
|
|
NM_002860.4(ALDH18A1):c.1942C>T (p.Pro648Ser)
|
rs768964431
|
0.00001
|
|
NM_002860.4(ALDH18A1):c.2034G>A (p.Val678=)
|
rs1328125928
|
0.00001
|
|
NM_002860.4(ALDH18A1):c.2077A>G (p.Ser693Gly)
|
rs1363547996
|
0.00001
|
|
NM_002860.4(ALDH18A1):c.2110G>A (p.Glu704Lys)
|
rs758219423
|
0.00001
|
|
NM_002860.4(ALDH18A1):c.2140G>A (p.Val714Ile)
|
rs756291410
|
0.00001
|
|
NM_002860.4(ALDH18A1):c.2143G>C (p.Asp715His)
|
rs752669339
|
0.00001
|
|
NM_002860.4(ALDH18A1):c.2194C>T (p.Arg732Cys)
|
rs760203992
|
0.00001
|
|
NM_002860.4(ALDH18A1):c.2246G>A (p.Arg749Gln)
|
rs748925635
|
0.00001
|
|
NM_002860.4(ALDH18A1):c.2293C>T (p.Arg765Ter)
|
rs1462559161
|
0.00001
|
|
NM_002860.4(ALDH18A1):c.306A>G (p.Val102=)
|
rs773545430
|
0.00001
|
|
NM_002860.4(ALDH18A1):c.378C>T (p.Arg126=)
|
rs773835343
|
0.00001
|
|
NM_002860.4(ALDH18A1):c.383G>A (p.Arg128His)
|
rs768323248
|
0.00001
|
|
NM_002860.4(ALDH18A1):c.512C>T (p.Ala171Val)
|
rs1268586078
|
0.00001
|
|
NM_002860.4(ALDH18A1):c.551C>T (p.Ala184Val)
|
rs201428777
|
0.00001
|
|
NM_002860.4(ALDH18A1):c.558+6A>G
|
rs751771445
|
0.00001
|
|
NM_002860.4(ALDH18A1):c.559-19A>G
|
rs776600555
|
0.00001
|
|
NM_002860.4(ALDH18A1):c.598C>T (p.Arg200Cys)
|
rs201801058
|
0.00001
|
|
NM_002860.4(ALDH18A1):c.602G>A (p.Arg201Gln)
|
rs757660360
|
0.00001
|
|
NM_002860.4(ALDH18A1):c.754C>T (p.Arg252Ter)
|
rs758543218
|
0.00001
|
|
NM_002860.4(ALDH18A1):c.75C>T (p.Thr25=)
|
rs759465204
|
0.00001
|
|
NM_002860.4(ALDH18A1):c.781C>A (p.Leu261Ile)
|
rs200172733
|
0.00001
|
|
NM_002860.4(ALDH18A1):c.809-12T>C
|
rs777274822
|
0.00001
|
|
NM_002860.4(ALDH18A1):c.809-3T>G
|
rs755947818
|
0.00001
|
|
NM_002860.4(ALDH18A1):c.88+1G>A
|
rs556267618
|
0.00001
|
|
NM_002860.4(ALDH18A1):c.934-7T>A
|
rs772389382
|
0.00001
|
|
NM_002860.4(ALDH18A1):c.969T>A (p.Thr323=)
|
rs751578810
|
0.00001
|
|
NM_002860.4(ALDH18A1):c.991A>C (p.Thr331Pro)
|
rs765380273
|
0.00001
|
|
NM_003119.4(SPG7):c.*341A>G
|
rs772338990
|
0.00001
|
|
NM_003119.4(SPG7):c.*97G>A
|
rs886052475
|
0.00001
|
|
NM_003119.4(SPG7):c.*99G>A
|
rs953663004
|
0.00001
|
|
NM_003119.4(SPG7):c.1005C>T (p.Leu335=)
|
rs1348515048
|
0.00001
|
|
NM_003119.4(SPG7):c.1018A>G (p.Lys340Glu)
|
rs375684876
|
0.00001
|
|
NM_003119.4(SPG7):c.1046G>T (p.Gly349Val)
|
rs1387985266
|
0.00001
|
|
NM_003119.4(SPG7):c.1050C>T (p.Pro350=)
|
rs1360515266
|
0.00001
|
|
NM_003119.4(SPG7):c.1054G>A (p.Gly352Ser)
|
rs537421502
|
0.00001
|
|
NM_003119.4(SPG7):c.1055G>C (p.Gly352Ala)
|
rs1567914095
|
0.00001
|
|
NM_003119.4(SPG7):c.1067C>T (p.Thr356Met)
|
rs754903980
|
0.00001
|
|
NM_003119.4(SPG7):c.1068G>A (p.Thr356=)
|
rs368612689
|
0.00001
|
|
NM_003119.4(SPG7):c.1073T>C (p.Leu358Pro)
|
rs997293950
|
0.00001
|
|
NM_003119.4(SPG7):c.1079A>G (p.Lys360Arg)
|
rs376803235
|
0.00001
|
|
NM_003119.4(SPG7):c.1080G>A (p.Lys360=)
|
rs1212650663
|
0.00001
|
|
NM_003119.4(SPG7):c.1092G>A (p.Thr364=)
|
rs771190749
|
0.00001
|
|
NM_003119.4(SPG7):c.1115C>T (p.Ala372Val)
|
rs776176403
|
0.00001
|
|
NM_003119.4(SPG7):c.1175G>A (p.Ser392Asn)
|
rs745459731
|
0.00001
|
|
NM_003119.4(SPG7):c.1191C>G (p.Ala397=)
|
rs1597635045
|
0.00001
|
|
NM_003119.4(SPG7):c.1199G>A (p.Arg400Gln)
|
rs541757224
|
0.00001
|
|
NM_003119.4(SPG7):c.1234G>A (p.Ala412Thr)
|
rs779792728
|
0.00001
|
|
NM_003119.4(SPG7):c.1235C>T (p.Ala412Val)
|
rs746668495
|
0.00001
|
|
NM_003119.4(SPG7):c.1254C>T (p.Ser418=)
|
rs1056819996
|
0.00001
|
|
NM_003119.4(SPG7):c.1256C>T (p.Thr419Ile)
|
rs371504521
|
0.00001
|
|
NM_003119.4(SPG7):c.1257C>T (p.Thr419=)
|
rs766401031
|
0.00001
|
|
NM_003119.4(SPG7):c.1281G>A (p.Thr427=)
|
rs369614581
|
0.00001
|
|
NM_003119.4(SPG7):c.1295C>T (p.Thr432Met)
|
rs781129301
|
0.00001
|
|
NM_003119.4(SPG7):c.1369C>T (p.Arg457Ter)
|
rs138671904
|
0.00001
|
|
NM_003119.4(SPG7):c.1378A>G (p.Ile460Val)
|
rs748873540
|
0.00001
|
|
NM_003119.4(SPG7):c.1408C>T (p.Arg470Ter)
|
rs748555510
|
0.00001
|
|
NM_003119.4(SPG7):c.1409G>A (p.Arg470Gln)
|
rs756535079
|
0.00001
|
|
NM_003119.4(SPG7):c.1519C>T (p.Gln507Ter)
|
rs1482442290
|
0.00001
|
|
NM_003119.4(SPG7):c.1523G>A (p.Arg508His)
|
rs201733920
|
0.00001
|
|
NM_003119.4(SPG7):c.1552+2dup
|
rs1567928509
|
0.00001
|
|
NM_003119.4(SPG7):c.1635C>T (p.Phe545=)
|
rs770394077
|
0.00001
|
|
NM_003119.4(SPG7):c.1643C>A (p.Ala548Asp)
|
rs863224220
|
0.00001
|
|
NM_003119.4(SPG7):c.1644C>T (p.Ala548=)
|
rs145441974
|
0.00001
|
|
NM_003119.4(SPG7):c.1663+11C>T
|
rs778284438
|
0.00001
|
|
NM_003119.4(SPG7):c.1664-11C>A
|
rs574656941
|
0.00001
|
|
NM_003119.4(SPG7):c.1675A>T (p.Lys559Ter)
|
rs372981030
|
0.00001
|
|
NM_003119.4(SPG7):c.1695G>A (p.Lys565=)
|
rs1426006851
|
0.00001
|
|
NM_003119.4(SPG7):c.1702C>T (p.Gln568Ter)
|
rs946925151
|
0.00001
|
|
NM_003119.4(SPG7):c.1729G>A (p.Gly577Ser)
|
rs72547552
|
0.00001
|
|
NM_003119.4(SPG7):c.1730G>A (p.Gly577Asp)
|
rs1329063851
|
0.00001
|
|
NM_003119.4(SPG7):c.1780-7G>C
|
rs775799537
|
0.00001
|
|
NM_003119.4(SPG7):c.183+7C>T
|
rs1356178300
|
0.00001
|
|
NM_003119.4(SPG7):c.1929C>A (p.Val643=)
|
rs746082965
|
0.00001
|
|
NM_003119.4(SPG7):c.1959G>T (p.Lys653Asn)
|
rs775569150
|
0.00001
|
|
NM_003119.4(SPG7):c.1967G>A (p.Arg656His)
|
rs373143136
|
0.00001
|
|
NM_003119.4(SPG7):c.1972G>A (p.Ala658Thr)
|
rs2058661391
|
0.00001
|
|
NM_003119.4(SPG7):c.1976A>G (p.Tyr659Cys)
|
rs1052772091
|
0.00001
|
|
NM_003119.4(SPG7):c.1996G>C (p.Gly666Arg)
|
rs752989523
|
0.00001
|
|
NM_003119.4(SPG7):c.1A>G (p.Met1Val)
|
rs794726906
|
0.00001
|
|
NM_003119.4(SPG7):c.204A>G (p.Leu68=)
|
rs566363528
|
0.00001
|
|
NM_003119.4(SPG7):c.2062C>T (p.Arg688Trp)
|
rs1249957920
|
0.00001
|
|
NM_003119.4(SPG7):c.2084T>C (p.Leu695Pro)
|
rs864622094
|
0.00001
|
|
NM_003119.4(SPG7):c.2104G>A (p.Glu702Lys)
|
rs752257333
|
0.00001
|
|
NM_003119.4(SPG7):c.2148G>C (p.Lys716Asn)
|
rs776661222
|
0.00001
|
|
NM_003119.4(SPG7):c.2181G>A (p.Ala727=)
|
rs753423781
|
0.00001
|
|
NM_003119.4(SPG7):c.2182-19C>T
|
rs752601752
|
0.00001
|
|
NM_003119.4(SPG7):c.2182C>G (p.Leu728Val)
|
rs1433673841
|
0.00001
|
|
NM_003119.4(SPG7):c.2225A>G (p.Asp742Gly)
|
rs759329959
|
0.00001
|
|
NM_003119.4(SPG7):c.2249C>T (p.Pro750Leu)
|
rs879253797
|
0.00001
|
|
NM_003119.4(SPG7):c.2253C>T (p.Pro751=)
|
rs1466411495
|
0.00001
|
|
NM_003119.4(SPG7):c.2271del (p.Met757fs)
|
rs1217391623
|
0.00001
|
|
NM_003119.4(SPG7):c.2293G>A (p.Asp765Asn)
|
rs374941242
|
0.00001
|
|
NM_003119.4(SPG7):c.2323G>A (p.Glu775Lys)
|
rs1293899912
|
0.00001
|
|
NM_003119.4(SPG7):c.2373G>A (p.Pro791=)
|
rs768453376
|
0.00001
|
|
NM_003119.4(SPG7):c.287-15C>G
|
rs760006158
|
0.00001
|
|
NM_003119.4(SPG7):c.32T>C (p.Leu11Pro)
|
rs943187212
|
0.00001
|
|
NM_003119.4(SPG7):c.33C>T (p.Leu11=)
|
rs1319347094
|
0.00001
|
|
NM_003119.4(SPG7):c.373G>A (p.Glu125Lys)
|
rs774326531
|
0.00001
|
|
NM_003119.4(SPG7):c.376+1G>T
|
rs746053679
|
0.00001
|
|
NM_003119.4(SPG7):c.376G>C (p.Glu126Gln)
|
rs912983346
|
0.00001
|
|
NM_003119.4(SPG7):c.392G>A (p.Arg131His)
|
rs985921704
|
0.00001
|
|
NM_003119.4(SPG7):c.40G>A (p.Gly14Ser)
|
rs1242380690
|
0.00001
|
|
NM_003119.4(SPG7):c.415C>T (p.Arg139Ter)
|
rs370777371
|
0.00001
|
|
NM_003119.4(SPG7):c.416G>A (p.Arg139Gln)
|
rs948625936
|
0.00001
|
|
NM_003119.4(SPG7):c.504C>T (p.Asn168=)
|
rs151078862
|
0.00001
|
|
NM_003119.4(SPG7):c.529A>G (p.Lys177Glu)
|
rs1244544459
|
0.00001
|
|
NM_003119.4(SPG7):c.618+14C>T
|
rs574361328
|
0.00001
|
|
NM_003119.4(SPG7):c.618+8A>G
|
rs768740995
|
0.00001
|
|
NM_003119.4(SPG7):c.679C>T (p.Arg227Ter)
|
rs764791523
|
0.00001
|
|
NM_003119.4(SPG7):c.682G>A (p.Ala228Thr)
|
rs375721189
|
0.00001
|
|
NM_003119.4(SPG7):c.703A>G (p.Ile235Val)
|
rs191022979
|
0.00001
|
|
NM_003119.4(SPG7):c.739C>T (p.Arg247Ter)
|
rs779055639
|
0.00001
|
|
NM_003119.4(SPG7):c.759-2A>G
|
rs770299071
|
0.00001
|
|
NM_003119.4(SPG7):c.759-4G>A
|
rs777052133
|
0.00001
|
|
NM_003119.4(SPG7):c.767A>T (p.Tyr256Phe)
|
rs773926412
|
0.00001
|
|
NM_003119.4(SPG7):c.775_781dup (p.Thr261fs)
|
rs780810116
|
0.00001
|
|
NM_003119.4(SPG7):c.783G>A (p.Thr261=)
|
rs778798038
|
0.00001
|
|
NM_003119.4(SPG7):c.817C>T (p.Arg273Cys)
|
rs748547018
|
0.00001
|
|
NM_003119.4(SPG7):c.861+1G>C
|
rs1412575396
|
0.00001
|
|
NM_003119.4(SPG7):c.861+5G>A
|
rs757333854
|
0.00001
|
|
NM_003119.4(SPG7):c.862-15G>A
|
rs1208489603
|
0.00001
|
|
NM_003119.4(SPG7):c.891T>A (p.Ile297=)
|
rs773162353
|
0.00001
|
|
NM_003119.4(SPG7):c.898G>A (p.Gly300Arg)
|
rs771060044
|
0.00001
|
|
NM_003119.4(SPG7):c.930C>T (p.Asp310=)
|
rs779449885
|
0.00001
|
|
NM_003119.4(SPG7):c.988-1G>A
|
rs748309520
|
0.00001
|
|
NM_003119.4(SPG7):c.988-6G>A
|
rs779901380
|
0.00001
|
|
NM_003119.4(SPG7):c.99C>T (p.Phe33=)
|
rs1331243813
|
0.00001
|
|
NM_004181.5(UCHL1):c.175-4G>A
|
rs778240876
|
0.00001
|
|
NM_004722.4(AP4M1):c.1013G>A (p.Arg338Gln)
|
rs536356225
|
0.00001
|
|
NM_004722.4(AP4M1):c.1025+19C>G
|
rs756183556
|
0.00001
|
|
NM_004722.4(AP4M1):c.1044C>T (p.Ser348=)
|
rs746663793
|
0.00001
|
|
NM_004722.4(AP4M1):c.1074G>A (p.Glu358=)
|
rs529291627
|
0.00001
|
|
NM_004722.4(AP4M1):c.10C>T (p.Gln4Ter)
|
rs777220438
|
0.00001
|
|
NM_004722.4(AP4M1):c.1117C>T (p.Gln373Ter)
|
rs1562912305
|
0.00001
|
|
NM_004722.4(AP4M1):c.1120C>T (p.Leu374Phe)
|
rs747834855
|
0.00001
|
|
NM_004722.4(AP4M1):c.1137+10G>C
|
rs776964578
|
0.00001
|
|
NM_004722.4(AP4M1):c.1137+1G>T
|
rs770705832
|
0.00001
|
|
NM_004722.4(AP4M1):c.1187C>T (p.Ser396Leu)
|
rs772203028
|
0.00001
|
|
NM_004722.4(AP4M1):c.1190C>T (p.Ala397Val)
|
rs573143488
|
0.00001
|
|
NM_004722.4(AP4M1):c.1228G>A (p.Glu410Lys)
|
rs751442561
|
0.00001
|
|
NM_004722.4(AP4M1):c.129C>A (p.Asp43Glu)
|
rs760835879
|
0.00001
|
|
NM_004722.4(AP4M1):c.1317G>A (p.Trp439Ter)
|
rs772119268
|
0.00001
|
|
NM_004722.4(AP4M1):c.1339G>A (p.Asp447Asn)
|
rs772970558
|
0.00001
|
|
NM_004722.4(AP4M1):c.1360T>C (p.Ter454Arg)
|
rs1200528735
|
0.00001
|
|
NM_004722.4(AP4M1):c.142del (p.Val48fs)
|
rs764326593
|
0.00001
|
|
NM_004722.4(AP4M1):c.146T>A (p.Met49Lys)
|
rs200567804
|
0.00001
|
|
NM_004722.4(AP4M1):c.155A>G (p.His52Arg)
|
rs969442891
|
0.00001
|
|
NM_004722.4(AP4M1):c.175A>G (p.Ile59Val)
|
rs748804549
|
0.00001
|
|
NM_004722.4(AP4M1):c.188G>C (p.Gly63Ala)
|
rs1362214871
|
0.00001
|
|
NM_004722.4(AP4M1):c.189C>T (p.Gly63=)
|
rs367614875
|
0.00001
|
|
NM_004722.4(AP4M1):c.26C>T (p.Ser9Phe)
|
rs751068724
|
0.00001
|
|
NM_004722.4(AP4M1):c.273C>T (p.Gly91=)
|
rs778849366
|
0.00001
|
|
NM_004722.4(AP4M1):c.299G>T (p.Gly100Val)
|
rs772854398
|
0.00001
|
|
NM_004722.4(AP4M1):c.351+18C>T
|
rs748478430
|
0.00001
|
|
NM_004722.4(AP4M1):c.352-12C>T
|
rs1312514170
|
0.00001
|
|
NM_004722.4(AP4M1):c.3G>C (p.Met1Ile)
|
rs968876829
|
0.00001
|
|
NM_004722.4(AP4M1):c.458G>A (p.Gly153Asp)
|
rs797045250
|
0.00001
|
|
NM_004722.4(AP4M1):c.463-2A>T
|
rs750783717
|
0.00001
|
|
NM_004722.4(AP4M1):c.513C>G (p.Ser171Arg)
|
rs374978880
|
0.00001
|
|
NM_004722.4(AP4M1):c.515G>A (p.Arg172His)
|
rs746585330
|
0.00001
|
|
NM_004722.4(AP4M1):c.543+11G>C
|
rs200561621
|
0.00001
|
|
NM_004722.4(AP4M1):c.543+11_543+14dup
|
rs764092006
|
0.00001
|
|
NM_004722.4(AP4M1):c.577G>A (p.Glu193Lys)
|
rs387906838
|
0.00001
|
|
NM_004722.4(AP4M1):c.606+20C>T
|
rs1796284845
|
0.00001
|
|
NM_004722.4(AP4M1):c.607-2A>G
|
rs755533568
|
0.00001
|
|
NM_004722.4(AP4M1):c.611C>T (p.Ser204Phe)
|
rs200722903
|
0.00001
|
|
NM_004722.4(AP4M1):c.643C>T (p.Arg215Trp)
|
rs146445385
|
0.00001
|
|
NM_004722.4(AP4M1):c.673+6G>A
|
rs201427711
|
0.00001
|
|
NM_004722.4(AP4M1):c.674-5G>A
|
rs576875998
|
0.00001
|
|
NM_004722.4(AP4M1):c.746G>A (p.Arg249Gln)
|
rs368830741
|
0.00001
|
|
NM_004722.4(AP4M1):c.753T>C (p.Asp251=)
|
rs962896326
|
0.00001
|
|
NM_004722.4(AP4M1):c.802C>T (p.Arg268Ter)
|
rs780030221
|
0.00001
|
|
NM_004722.4(AP4M1):c.811C>T (p.Arg271Cys)
|
rs781616312
|
0.00001
|
|
NM_004722.4(AP4M1):c.860C>T (p.Ser287Phe)
|
rs774646136
|
0.00001
|
|
NM_004722.4(AP4M1):c.862G>C (p.Asp288His)
|
rs767611212
|
0.00001
|
|
NM_004722.4(AP4M1):c.867C>T (p.Asp289=)
|
rs756660680
|
0.00001
|
|
NM_004722.4(AP4M1):c.890G>A (p.Arg297Gln)
|
rs768778642
|
0.00001
|
|
NM_004722.4(AP4M1):c.90C>G (p.Ala30=)
|
rs1418445713
|
0.00001
|
|
NM_004722.4(AP4M1):c.955T>C (p.Cys319Arg)
|
rs754498075
|
0.00001
|
|
NM_004722.4(AP4M1):c.974+16G>A
|
rs777424471
|
0.00001
|
|
NM_004722.4(AP4M1):c.988G>C (p.Val330Leu)
|
rs1279854067
|
0.00001
|
|
NM_004733.4(SLC33A1):c.1626G>C (p.Ser542=)
|
rs1163944109
|
0.00001
|
|
NM_004820.5(CYP7B1):c.*11A>G
|
rs748377795
|
0.00001
|
|
NM_004820.5(CYP7B1):c.-135G>A
|
rs948771650
|
0.00001
|
|
NM_004820.5(CYP7B1):c.-99G>C
|
rs886063078
|
0.00001
|
|
NM_004820.5(CYP7B1):c.1031A>C (p.Glu344Ala)
|
rs1057518485
|
0.00001
|
|
NM_004820.5(CYP7B1):c.1044C>T (p.Ser348=)
|
rs145292008
|
0.00001
|
|
NM_004820.5(CYP7B1):c.1061G>A (p.Ser354Asn)
|
rs753708048
|
0.00001
|
|
NM_004820.5(CYP7B1):c.1088C>T (p.Ser363Phe)
|
rs121908610
|
0.00001
|
|
NM_004820.5(CYP7B1):c.1162C>T (p.Arg388Ter)
|
rs72554620
|
0.00001
|
|
NM_004820.5(CYP7B1):c.1193C>T (p.Pro398Leu)
|
rs767611387
|
0.00001
|
|
NM_004820.5(CYP7B1):c.1322C>T (p.Pro441Leu)
|
rs1376071051
|
0.00001
|
|
NM_004820.5(CYP7B1):c.169G>A (p.Gly57Arg)
|
rs121908614
|
0.00001
|
|
NM_004820.5(CYP7B1):c.177C>A (p.Val59=)
|
rs763202430
|
0.00001
|
|
NM_004820.5(CYP7B1):c.187C>T (p.Arg63Ter)
|
rs746979262
|
0.00001
|
|
NM_004820.5(CYP7B1):c.440G>A (p.Gly147Asp)
|
rs754730601
|
0.00001
|
|
NM_004820.5(CYP7B1):c.92T>A (p.Leu31Gln)
|
rs886063076
|
0.00001
|
|
NM_004820.5(CYP7B1):c.955C>T (p.Arg319Cys)
|
rs1410531135
|
0.00001
|
|
NM_004984.4(KIF5A):c.1063G>T (p.Ala355Ser)
|
rs749301835
|
0.00001
|
|
NM_004984.4(KIF5A):c.1082C>T (p.Ala361Val)
|
rs121434444
|
0.00001
|
|
NM_004984.4(KIF5A):c.1117+4A>G
|
rs781028681
|
0.00001
|
|
NM_004984.4(KIF5A):c.1476G>A (p.Glu492=)
|
rs1227040638
|
0.00001
|
|
NM_004984.4(KIF5A):c.151C>T (p.Arg51Cys)
|
rs769763596
|
0.00001
|
|
NM_004984.4(KIF5A):c.1569+6T>C
|
rs1191410072
|
0.00001
|
|
NM_004984.4(KIF5A):c.1570-3C>T
|
rs1365061259
|
0.00001
|
|
NM_004984.4(KIF5A):c.2024-8T>G
|
rs190187837
|
0.00001
|
|
NM_004984.4(KIF5A):c.2119C>T (p.Arg707Trp)
|
rs756646293
|
0.00001
|
|
NM_004984.4(KIF5A):c.2271C>T (p.His757=)
|
rs374554951
|
0.00001
|
|
NM_004984.4(KIF5A):c.2290C>A (p.Gln764Lys)
|
rs749616160
|
0.00001
|
|
NM_004984.4(KIF5A):c.2300+7G>A
|
rs763362184
|
0.00001
|
|
NM_004984.4(KIF5A):c.2478A>C (p.Gln826His)
|
rs777903778
|
0.00001
|
|
NM_004984.4(KIF5A):c.2838C>T (p.Tyr946=)
|
rs781143696
|
0.00001
|
|
NM_004984.4(KIF5A):c.2868_2870del (p.Leu957del)
|
rs575223790
|
0.00001
|
|
NM_004984.4(KIF5A):c.291+5G>A
|
rs775732465
|
0.00001
|
|
NM_004984.4(KIF5A):c.2994A>G (p.Gly998=)
|
rs750415265
|
0.00001
|
|
NM_004984.4(KIF5A):c.3032C>T (p.Pro1011Leu)
|
rs751496558
|
0.00001
|
|
NM_004984.4(KIF5A):c.3068T>G (p.Phe1023Cys)
|
rs756348570
|
0.00001
|
|
NM_004984.4(KIF5A):c.967C>T (p.Arg323Trp)
|
rs1012819766
|
0.00001
|
|
NM_004984.4(KIF5A):c.968+12G>C
|
rs536186088
|
0.00001
|
|
NM_004990.4(MARS1):c.2104C>T (p.Arg702Trp)
|
rs587777228
|
0.00001
|
|
NM_005154.5(USP8):c.1090T>C (p.Leu364=)
|
rs750843415
|
0.00001
|
|
NM_005154.5(USP8):c.1120C>A (p.Pro374Thr)
|
rs1359249352
|
0.00001
|
|
NM_005154.5(USP8):c.1129A>G (p.Ile377Val)
|
rs373704916
|
0.00001
|
|
NM_005154.5(USP8):c.1310G>A (p.Ser437Asn)
|
rs775130274
|
0.00001
|
|
NM_005154.5(USP8):c.1460A>G (p.Gln487Arg)
|
rs761395751
|
0.00001
|
|
NM_005154.5(USP8):c.1540A>G (p.Ile514Val)
|
rs746289412
|
0.00001
|
|
NM_005154.5(USP8):c.1597G>A (p.Ala533Thr)
|
rs768167279
|
0.00001
|
|
NM_005154.5(USP8):c.1726C>T (p.Pro576Ser)
|
rs755591528
|
0.00001
|
|
NM_005154.5(USP8):c.1840C>T (p.Leu614=)
|
rs745444234
|
0.00001
|
|
NM_005154.5(USP8):c.2108C>A (p.Pro703His)
|
rs766783893
|
0.00001
|
|
NM_005154.5(USP8):c.2121T>C (p.Asp707=)
|
rs767210381
|
0.00001
|
|
NM_005154.5(USP8):c.2235-9C>T
|
rs374691987
|
0.00001
|
|
NM_005154.5(USP8):c.2291A>G (p.Asn764Ser)
|
rs1318445105
|
0.00001
|
|
NM_005154.5(USP8):c.2532T>C (p.Tyr844=)
|
rs770928016
|
0.00001
|
|
NM_005154.5(USP8):c.564A>G (p.Leu188=)
|
rs534878262
|
0.00001
|
|
NM_005154.5(USP8):c.823C>T (p.Arg275Trp)
|
rs752682936
|
0.00001
|
|
NM_005154.5(USP8):c.865G>A (p.Val289Ile)
|
rs143070181
|
0.00001
|
|
NM_005186.4(CAPN1):c.1015C>T (p.Arg339Ter)
|
rs1033887530
|
0.00001
|
|
NM_005186.4(CAPN1):c.1176G>A (p.Trp392Ter)
|
rs756830713
|
0.00001
|
|
NM_005186.4(CAPN1):c.843+1G>C
|
rs781683198
|
0.00001
|
|
NM_005619.5(RTN2):c.1100C>T (p.Ser367Phe)
|
rs140494585
|
0.00001
|
|
NM_005619.5(RTN2):c.1181T>G (p.Leu394Arg)
|
rs755919124
|
0.00001
|
|
NM_005619.5(RTN2):c.1241+3G>A
|
rs768120941
|
0.00001
|
|
NM_005619.5(RTN2):c.1339C>T (p.Arg447Trp)
|
rs764827191
|
0.00001
|
|
NM_005619.5(RTN2):c.1340G>A (p.Arg447Gln)
|
rs1262346281
|
0.00001
|
|
NM_005619.5(RTN2):c.253C>T (p.Arg85Cys)
|
rs751101450
|
0.00001
|
|
NM_005619.5(RTN2):c.764G>T (p.Cys255Phe)
|
rs775281770
|
0.00001
|
|
NM_006070.6(TFG):c.1006C>T (p.Pro336Ser)
|
rs371681149
|
0.00001
|
|
NM_006070.6(TFG):c.1070A>G (p.Tyr357Cys)
|
rs1375662436
|
0.00001
|
|
NM_006070.6(TFG):c.1094C>T (p.Ser365Leu)
|
rs1288104441
|
0.00001
|
|
NM_006070.6(TFG):c.1116C>T (p.Thr372=)
|
rs1576389880
|
0.00001
|
|
NM_006070.6(TFG):c.1123C>G (p.Pro375Ala)
|
rs1234073129
|
0.00001
|
|
NM_006070.6(TFG):c.1153C>T (p.Arg385Cys)
|
rs548772203
|
0.00001
|
|
NM_006070.6(TFG):c.1165G>C (p.Gly389Arg)
|
rs1576390105
|
0.00001
|
|
NM_006070.6(TFG):c.213T>C (p.Ser71=)
|
rs773769795
|
0.00001
|
|
NM_006070.6(TFG):c.25G>A (p.Gly9Arg)
|
rs200716443
|
0.00001
|
|
NM_006070.6(TFG):c.268+18T>A
|
rs767431238
|
0.00001
|
|
NM_006070.6(TFG):c.268+20A>T
|
rs755835566
|
0.00001
|
|
NM_006070.6(TFG):c.268G>A (p.Val90Ile)
|
rs1468380372
|
0.00001
|
|
NM_006070.6(TFG):c.269-5T>C
|
rs2095082752
|
0.00001
|
|
NM_006070.6(TFG):c.286C>T (p.Pro96Ser)
|
rs1435777080
|
0.00001
|
|
NM_006070.6(TFG):c.293A>C (p.Glu98Ala)
|
rs2095082870
|
0.00001
|
|
NM_006070.6(TFG):c.309A>G (p.Lys103=)
|
rs369508900
|
0.00001
|
|
NM_006070.6(TFG):c.310T>C (p.Tyr104His)
|
rs775608477
|
0.00001
|
|
NM_006070.6(TFG):c.316C>T (p.Arg106Cys)
|
rs587777175
|
0.00001
|
|
NM_006070.6(TFG):c.317G>A (p.Arg106His)
|
rs376971794
|
0.00001
|
|
NM_006070.6(TFG):c.409G>C (p.Glu137Gln)
|
rs760595911
|
0.00001
|
|
NM_006070.6(TFG):c.458C>T (p.Ser153Phe)
|
rs775354552
|
0.00001
|
|
NM_006070.6(TFG):c.474T>C (p.Thr158=)
|
rs2095094645
|
0.00001
|
|
NM_006070.6(TFG):c.482T>C (p.Met161Thr)
|
rs766899074
|
0.00001
|
|
NM_006070.6(TFG):c.484G>A (p.Ala162Thr)
|
rs1346466403
|
0.00001
|
|
NM_006070.6(TFG):c.499G>A (p.Ala167Thr)
|
rs1428468084
|
0.00001
|
|
NM_006070.6(TFG):c.550G>A (p.Ala184Thr)
|
rs777654574
|
0.00001
|
|
NM_006070.6(TFG):c.580+6T>C
|
rs372196251
|
0.00001
|
|
NM_006070.6(TFG):c.581-10G>A
|
rs749200284
|
0.00001
|
|
NM_006070.6(TFG):c.608G>A (p.Arg203His)
|
rs879472420
|
0.00001
|
|
NM_006070.6(TFG):c.621C>T (p.Pro207=)
|
rs141786985
|
0.00001
|
|
NM_006070.6(TFG):c.664G>A (p.Val222Ile)
|
rs144368144
|
0.00001
|
|
NM_006070.6(TFG):c.690A>G (p.Thr230=)
|
rs777434458
|
0.00001
|
|
NM_006070.6(TFG):c.6C>T (p.Asn2=)
|
rs771836549
|
0.00001
|
|
NM_006070.6(TFG):c.705A>G (p.Gln235=)
|
rs372286781
|
0.00001
|
|
NM_006070.6(TFG):c.754G>A (p.Gly252Ser)
|
rs561904697
|
0.00001
|
|
NM_006070.6(TFG):c.756C>G (p.Gly252=)
|
rs867600144
|
0.00001
|
|
NM_006070.6(TFG):c.765A>C (p.Ala255=)
|
rs1057522690
|
0.00001
|
|
NM_006070.6(TFG):c.773C>T (p.Pro258Leu)
|
rs752762145
|
0.00001
|
|
NM_006070.6(TFG):c.821C>T (p.Ala274Val)
|
rs368994316
|
0.00001
|
|
NM_006070.6(TFG):c.850C>G (p.Gln284Glu)
|
rs760894126
|
0.00001
|
|
NM_006070.6(TFG):c.852A>C (p.Gln284His)
|
rs1559726965
|
0.00001
|
|
NM_006070.6(TFG):c.867G>A (p.Gln289=)
|
rs1340191664
|
0.00001
|
|
NM_006070.6(TFG):c.981A>G (p.Gln327=)
|
rs759578675
|
0.00001
|
|
NM_006459.4(ERLIN1):c.1015A>G (p.Asn339Asp)
|
rs199928340
|
0.00001
|
|
NM_006459.4(ERLIN1):c.114-19T>A
|
rs370929588
|
0.00001
|
|
NM_006459.4(ERLIN1):c.177T>C (p.Thr59=)
|
rs770027728
|
0.00001
|
|
NM_006459.4(ERLIN1):c.178A>G (p.Thr60Ala)
|
rs1040330782
|
0.00001
|
|
NM_006459.4(ERLIN1):c.243-17T>C
|
rs764296818
|
0.00001
|
|
NM_006459.4(ERLIN1):c.317T>C (p.Val106Ala)
|
rs766334565
|
0.00001
|
|
NM_006459.4(ERLIN1):c.450G>C (p.Leu150=)
|
rs767470324
|
0.00001
|
|
NM_006459.4(ERLIN1):c.451A>G (p.Lys151Glu)
|
rs1212995006
|
0.00001
|
|
NM_006459.4(ERLIN1):c.496A>G (p.Thr166Ala)
|
rs1347300132
|
0.00001
|
|
NM_006459.4(ERLIN1):c.678G>C (p.Val226=)
|
rs762266742
|
0.00001
|
|
NM_006459.4(ERLIN1):c.689G>A (p.Arg230Gln)
|
rs943655200
|
0.00001
|
|
NM_006459.4(ERLIN1):c.745+5A>G
|
rs1173306064
|
0.00001
|
|
NM_006459.4(ERLIN1):c.763C>T (p.Arg255Ter)
|
rs876657413
|
0.00001
|
|
NM_006459.4(ERLIN1):c.76C>G (p.His26Asp)
|
rs370785461
|
0.00001
|
|
NM_006459.4(ERLIN1):c.789A>G (p.Glu263=)
|
rs759786446
|
0.00001
|
|
NM_006459.4(ERLIN1):c.813C>T (p.Ala271=)
|
rs747050921
|
0.00001
|
|
NM_006459.4(ERLIN1):c.893A>G (p.Tyr298Cys)
|
rs756772947
|
0.00001
|
|
NM_006567.5(FARS2):c.1255C>T (p.Arg419Cys)
|
rs775690041
|
0.00001
|
|
NM_006567.5(FARS2):c.1256G>A (p.Arg419His)
|
rs202183509
|
0.00001
|
|
NM_006567.5(FARS2):c.515T>C (p.Leu172Pro)
|
rs754132045
|
0.00001
|
|
NM_006567.5(FARS2):c.988C>T (p.Arg330Cys)
|
rs757442324
|
0.00001
|
|
NM_006612.6(KIF1C):c.1020-17G>C
|
rs776141172
|
0.00001
|
|
NM_006612.6(KIF1C):c.1045C>T (p.Arg349Cys)
|
rs187228739
|
0.00001
|
|
NM_006612.6(KIF1C):c.1115G>A (p.Arg372Gln)
|
rs367997542
|
0.00001
|
|
NM_006612.6(KIF1C):c.1152C>G (p.Ala384=)
|
rs757618593
|
0.00001
|
|
NM_006612.6(KIF1C):c.116A>G (p.Asn39Ser)
|
rs1368090910
|
0.00001
|
|
NM_006612.6(KIF1C):c.1198G>A (p.Ala400Thr)
|
rs755935386
|
0.00001
|
|
NM_006612.6(KIF1C):c.126G>C (p.Gln42His)
|
rs202033753
|
0.00001
|
|
NM_006612.6(KIF1C):c.1488G>A (p.Lys496=)
|
rs1269015879
|
0.00001
|
|
NM_006612.6(KIF1C):c.1666+5T>C
|
rs1057523116
|
0.00001
|
|
NM_006612.6(KIF1C):c.1844C>T (p.Pro615Leu)
|
rs760659714
|
0.00001
|
|
NM_006612.6(KIF1C):c.1847G>A (p.Gly616Glu)
|
rs1283601775
|
0.00001
|
|
NM_006612.6(KIF1C):c.1938-5C>G
|
rs1168197465
|
0.00001
|
|
NM_006612.6(KIF1C):c.1938G>A (p.Arg646=)
|
rs762688207
|
0.00001
|
|
NM_006612.6(KIF1C):c.2155C>T (p.Arg719Cys)
|
rs147429300
|
0.00001
|
|
NM_006612.6(KIF1C):c.2187C>T (p.Pro729=)
|
rs1200655580
|
0.00001
|
|
NM_006612.6(KIF1C):c.2216C>T (p.Pro739Leu)
|
rs376385209
|
0.00001
|
|
NM_006612.6(KIF1C):c.2231T>C (p.Met744Thr)
|
rs1453593139
|
0.00001
|
|
NM_006612.6(KIF1C):c.2443G>A (p.Ala815Thr)
|
rs776041349
|
0.00001
|
|
NM_006612.6(KIF1C):c.2485G>A (p.Glu829Lys)
|
rs539082919
|
0.00001
|
|
NM_006612.6(KIF1C):c.2565C>A (p.Asp855Glu)
|
rs767390082
|
0.00001
|
|
NM_006612.6(KIF1C):c.2674C>T (p.Pro892Ser)
|
rs561679213
|
0.00001
|
|
NM_006612.6(KIF1C):c.2701G>A (p.Glu901Lys)
|
rs751072487
|
0.00001
|
|
NM_006612.6(KIF1C):c.2711C>G (p.Pro904Arg)
|
rs1395728872
|
0.00001
|
|
NM_006612.6(KIF1C):c.2727G>A (p.Pro909=)
|
rs756493983
|
0.00001
|
|
NM_006612.6(KIF1C):c.2777G>A (p.Arg926Gln)
|
rs200925951
|
0.00001
|
|
NM_006612.6(KIF1C):c.2819G>A (p.Arg940His)
|
rs774901685
|
0.00001
|
|
NM_006612.6(KIF1C):c.2878G>A (p.Gly960Arg)
|
rs757104315
|
0.00001
|
|
NM_006612.6(KIF1C):c.2952C>A (p.Asn984Lys)
|
rs750130519
|
0.00001
|
|
NM_006612.6(KIF1C):c.3006G>A (p.Pro1002=)
|
rs765019500
|
0.00001
|
|
NM_006612.6(KIF1C):c.3070C>T (p.Arg1024Ter)
|
rs372792586
|
0.00001
|
|
NM_006612.6(KIF1C):c.3098C>T (p.Ser1033Phe)
|
rs779584975
|
0.00001
|
|
NM_006612.6(KIF1C):c.363+4C>T
|
rs368371260
|
0.00001
|
|
NM_006612.6(KIF1C):c.37C>T (p.Arg13Trp)
|
rs756071061
|
0.00001
|
|
NM_006612.6(KIF1C):c.412C>G (p.Leu138Val)
|
rs773746672
|
0.00001
|
|
NM_006612.6(KIF1C):c.429+8C>T
|
rs549957230
|
0.00001
|
|
NM_006612.6(KIF1C):c.430-6A>T
|
rs749747498
|
0.00001
|
|
NM_006612.6(KIF1C):c.471C>A (p.Leu157=)
|
rs140531982
|
0.00001
|
|
NM_006612.6(KIF1C):c.505C>T (p.Arg169Trp)
|
rs587777198
|
0.00001
|
|
NM_006612.6(KIF1C):c.527C>T (p.Pro176Leu)
|
rs772475828
|
0.00001
|
|
NM_006612.6(KIF1C):c.577G>A (p.Ala193Thr)
|
rs754938138
|
0.00001
|
|
NM_006612.6(KIF1C):c.646C>T (p.Arg216Cys)
|
rs1064796693
|
0.00001
|
|
NM_006612.6(KIF1C):c.720+17C>G
|
rs753249003
|
0.00001
|
|
NM_006612.6(KIF1C):c.798+3G>T
|
rs777181739
|
0.00001
|
|
NM_006612.6(KIF1C):c.849G>A (p.Ser283=)
|
rs774623292
|
0.00001
|
|
NM_006702.5(PNPLA6):c.-200C>T
|
rs1175772277
|
0.00001
|
|
NM_007175.8(ERLIN2):c.39T>C (p.Ser13=)
|
rs368986092
|
0.00001
|
|
NM_007175.8(ERLIN2):c.899A>T (p.Asp300Val)
|
rs763958615
|
0.00001
|
|
NM_007215.4(POLG2):c.1363C>A (p.Leu455Met)
|
rs1284799258
|
0.00001
|
|
NM_007215.4(POLG2):c.520G>A (p.Val174Ile)
|
rs1331115392
|
0.00001
|
|
NM_007215.4(POLG2):c.776G>A (p.Arg259Gln)
|
rs368309122
|
0.00001
|
|
NM_007347.5(AP4E1):c.212C>T (p.Thr71Ile)
|
rs755540057
|
0.00001
|
|
NM_007347.5(AP4E1):c.2508C>T (p.His836=)
|
rs369673380
|
0.00001
|
|
NM_007347.5(AP4E1):c.2621C>T (p.Thr874Ile)
|
rs999709311
|
0.00001
|
|
NM_007347.5(AP4E1):c.2804G>A (p.Trp935Ter)
|
rs2064899680
|
0.00001
|
|
NM_007347.5(AP4E1):c.3117C>T (p.Asp1039=)
|
rs752693324
|
0.00001
|
|
NM_007347.5(AP4E1):c.3288A>G (p.Pro1096=)
|
rs764886183
|
0.00001
|
|
NM_007347.5(AP4E1):c.3374A>G (p.Tyr1125Cys)
|
rs539408428
|
0.00001
|
|
NM_007347.5(AP4E1):c.822A>G (p.Gln274=)
|
rs991693986
|
0.00001
|
|
NM_007347.5(AP4E1):c.944-6T>A
|
rs775899244
|
0.00001
|
|
NM_012073.5(CCT5):c.*1382C>T
|
rs1222254097
|
0.00001
|
|
NM_012073.5(CCT5):c.*176G>C
|
rs547909747
|
0.00001
|
|
NM_012073.5(CCT5):c.*25A>G
|
rs886059755
|
0.00001
|
|
NM_012073.5(CCT5):c.*756C>G
|
rs1437353746
|
0.00001
|
|
NM_012073.5(CCT5):c.*775C>G
|
rs533967918
|
0.00001
|
|
NM_012073.5(CCT5):c.-56C>T
|
rs770097768
|
0.00001
|
|
NM_012073.5(CCT5):c.-59A>G
|
rs748544536
|
0.00001
|
|
NM_012073.5(CCT5):c.1005C>T (p.Ile335=)
|
rs1282889055
|
0.00001
|
|
NM_012073.5(CCT5):c.106-10G>C
|
rs1468015293
|
0.00001
|
|
NM_012073.5(CCT5):c.10A>G (p.Met4Val)
|
rs1281493996
|
0.00001
|
|
NM_012073.5(CCT5):c.1123G>A (p.Glu375Lys)
|
rs139449863
|
0.00001
|
|
NM_012073.5(CCT5):c.112A>G (p.Ile38Val)
|
rs1191228356
|
0.00001
|
|
NM_012073.5(CCT5):c.1206T>C (p.Leu402=)
|
rs943286316
|
0.00001
|
|
NM_012073.5(CCT5):c.1209C>T (p.His403=)
|
rs771307325
|
0.00001
|
|
NM_012073.5(CCT5):c.1229G>A (p.Arg410Gln)
|
rs771944850
|
0.00001
|
|
NM_012073.5(CCT5):c.1270G>T (p.Ala424Ser)
|
rs767982457
|
0.00001
|
|
NM_012073.5(CCT5):c.1308G>A (p.Glu436=)
|
rs772175136
|
0.00001
|
|
NM_012073.5(CCT5):c.1311G>A (p.Ala437=)
|
rs746715722
|
0.00001
|
|
NM_012073.5(CCT5):c.1318-4C>T
|
rs1404507806
|
0.00001
|
|
NM_012073.5(CCT5):c.1346G>A (p.Arg449Lys)
|
rs762423535
|
0.00001
|
|
NM_012073.5(CCT5):c.1357G>A (p.Asp453Asn)
|
rs766463234
|
0.00001
|
|
NM_012073.5(CCT5):c.1359C>T (p.Asp453=)
|
rs751771583
|
0.00001
|
|
NM_012073.5(CCT5):c.1443G>C (p.Gln481His)
|
rs766425367
|
0.00001
|
|
NM_012073.5(CCT5):c.1549A>G (p.Ile517Val)
|
rs752461300
|
0.00001
|
|
NM_012073.5(CCT5):c.1615T>C (p.Ser539Pro)
|
rs779415398
|
0.00001
|
|
NM_012073.5(CCT5):c.222G>A (p.Gly74=)
|
rs1234851468
|
0.00001
|
|
NM_012073.5(CCT5):c.377G>A (p.Arg126Gln)
|
rs369788570
|
0.00001
|
|
NM_012073.5(CCT5):c.531-10T>G
|
rs761866534
|
0.00001
|
|
NM_012073.5(CCT5):c.548G>A (p.Arg183Gln)
|
rs772711272
|
0.00001
|
|
NM_012073.5(CCT5):c.577G>A (p.Val193Ile)
|
rs978444316
|
0.00001
|
|
NM_012073.5(CCT5):c.610G>A (p.Val204Ile)
|
rs1266138297
|
0.00001
|
|
NM_012073.5(CCT5):c.649G>A (p.Gly217Ser)
|
rs201804455
|
0.00001
|
|
NM_012073.5(CCT5):c.677A>G (p.Lys226Arg)
|
rs768757632
|
0.00001
|
|
NM_012073.5(CCT5):c.724-6C>T
|
rs781230840
|
0.00001
|
|
NM_012073.5(CCT5):c.840C>T (p.Tyr280=)
|
rs978388396
|
0.00001
|
|
NM_012073.5(CCT5):c.993+14C>T
|
rs1170598436
|
0.00001
|
|
NM_014363.6(SACS):c.1004C>T (p.Ser335Leu)
|
rs767435985
|
0.00001
|
|
NM_014363.6(SACS):c.1115C>T (p.Thr372Ile)
|
rs1296261982
|
0.00001
|
|
NM_014363.6(SACS):c.11624G>A (p.Arg3875His)
|
rs863224916
|
0.00001
|
|
NM_014363.6(SACS):c.12581A>G (p.Tyr4194Cys)
|
rs1486450052
|
0.00001
|
|
NM_014363.6(SACS):c.12835C>G (p.Leu4279Val)
|
rs537725928
|
0.00001
|
|
NM_014363.6(SACS):c.157C>A (p.Arg53Ser)
|
rs1201976226
|
0.00001
|
|
NM_014363.6(SACS):c.1752A>G (p.Leu584=)
|
rs368626712
|
0.00001
|
|
NM_014363.6(SACS):c.1859C>G (p.Thr620Arg)
|
rs1159082212
|
0.00001
|
|
NM_014363.6(SACS):c.21-6C>A
|
rs767048737
|
0.00001
|
|
NM_014363.6(SACS):c.2148C>T (p.His716=)
|
rs780789330
|
0.00001
|
|
NM_014363.6(SACS):c.2564T>C (p.Leu855Ser)
|
rs142037771
|
0.00001
|
|
NM_014363.6(SACS):c.4744G>A (p.Asp1582Asn)
|
rs1160357920
|
0.00001
|
|
NM_014363.6(SACS):c.4749A>G (p.Pro1583=)
|
rs760512075
|
0.00001
|
|
NM_014363.6(SACS):c.5629C>T (p.Arg1877Ter)
|
rs761089024
|
0.00001
|
|
NM_014363.6(SACS):c.7306A>C (p.Ile2436Leu)
|
rs567650774
|
0.00001
|
|
NM_014363.6(SACS):c.8141C>T (p.Ser2714Leu)
|
rs762610527
|
0.00001
|
|
NM_014363.6(SACS):c.8844del (p.Ile2949fs)
|
rs281865117
|
0.00001
|
|
NM_014844.5(TECPR2):c.1085-4T>G
|
rs1363586320
|
0.00001
|
|
NM_014844.5(TECPR2):c.1086G>A (p.Val362=)
|
rs775863338
|
0.00001
|
|
NM_014844.5(TECPR2):c.108C>T (p.Val36=)
|
rs139815945
|
0.00001
|
|
NM_014844.5(TECPR2):c.1113C>T (p.Cys371=)
|
rs139520375
|
0.00001
|
|
NM_014844.5(TECPR2):c.1129G>A (p.Val377Met)
|
rs527904656
|
0.00001
|
|
NM_014844.5(TECPR2):c.1152A>G (p.Pro384=)
|
rs1039581834
|
0.00001
|
|
NM_014844.5(TECPR2):c.1161A>G (p.Thr387=)
|
rs199742956
|
0.00001
|
|
NM_014844.5(TECPR2):c.1170G>A (p.Glu390=)
|
rs1195813959
|
0.00001
|
|
NM_014844.5(TECPR2):c.1204G>A (p.Val402Met)
|
rs201302142
|
0.00001
|
|
NM_014844.5(TECPR2):c.1213G>A (p.Glu405Lys)
|
rs148556964
|
0.00001
|
|
NM_014844.5(TECPR2):c.1235C>T (p.Ser412Leu)
|
rs367895391
|
0.00001
|
|
NM_014844.5(TECPR2):c.1244C>A (p.Ser415Tyr)
|
rs1239046327
|
0.00001
|
|
NM_014844.5(TECPR2):c.1272C>G (p.Pro424=)
|
rs1479776252
|
0.00001
|
|
NM_014844.5(TECPR2):c.1287C>G (p.Ala429=)
|
rs775301208
|
0.00001
|
|
NM_014844.5(TECPR2):c.1290C>T (p.Thr430=)
|
rs763935932
|
0.00001
|
|
NM_014844.5(TECPR2):c.1308C>A (p.Gly436=)
|
rs1357322447
|
0.00001
|
|
NM_014844.5(TECPR2):c.1318_1319del (p.Leu440fs)
|
rs765874018
|
0.00001
|
|
NM_014844.5(TECPR2):c.142A>G (p.Ile48Val)
|
rs774552033
|
0.00001
|
|
NM_014844.5(TECPR2):c.144C>T (p.Ile48=)
|
rs1447149764
|
0.00001
|
|
NM_014844.5(TECPR2):c.150G>A (p.Val50=)
|
rs372796531
|
0.00001
|
|
NM_014844.5(TECPR2):c.1632C>T (p.Pro544=)
|
rs1057107201
|
0.00001
|
|
NM_014844.5(TECPR2):c.1643A>G (p.Asn548Ser)
|
rs904496072
|
0.00001
|
|
NM_014844.5(TECPR2):c.167T>C (p.Met56Thr)
|
rs755600315
|
0.00001
|
|
NM_014844.5(TECPR2):c.1704T>G (p.Thr568=)
|
rs749355080
|
0.00001
|
|
NM_014844.5(TECPR2):c.171C>G (p.Leu57=)
|
rs765658697
|
0.00001
|
|
NM_014844.5(TECPR2):c.173A>T (p.Tyr58Phe)
|
rs752289754
|
0.00001
|
|
NM_014844.5(TECPR2):c.1800G>A (p.Glu600=)
|
rs749351336
|
0.00001
|
|
NM_014844.5(TECPR2):c.180C>T (p.Tyr60=)
|
rs139508217
|
0.00001
|
|
NM_014844.5(TECPR2):c.1810G>A (p.Ala604Thr)
|
rs958569960
|
0.00001
|
|
NM_014844.5(TECPR2):c.1811C>T (p.Ala604Val)
|
rs1060502180
|
0.00001
|
|
NM_014844.5(TECPR2):c.1815T>C (p.Asp605=)
|
rs1235252325
|
0.00001
|
|
NM_014844.5(TECPR2):c.1861T>G (p.Ser621Ala)
|
rs917201729
|
0.00001
|
|
NM_014844.5(TECPR2):c.1944C>T (p.Leu648=)
|
rs1217749605
|
0.00001
|
|
NM_014844.5(TECPR2):c.1956C>T (p.Ser652=)
|
rs763758324
|
0.00001
|
|
NM_014844.5(TECPR2):c.2013A>G (p.Glu671=)
|
rs1392555717
|
0.00001
|
|
NM_014844.5(TECPR2):c.2022C>T (p.Pro674=)
|
rs770334939
|
0.00001
|
|
NM_014844.5(TECPR2):c.2064G>A (p.Glu688=)
|
rs760528160
|
0.00001
|
|
NM_014844.5(TECPR2):c.2079C>G (p.Leu693=)
|
rs764289556
|
0.00001
|
|
NM_014844.5(TECPR2):c.2163G>T (p.Val721=)
|
rs1384864058
|
0.00001
|
|
NM_014844.5(TECPR2):c.2181G>A (p.Pro727=)
|
rs765050564
|
0.00001
|
|
NM_014844.5(TECPR2):c.220-10G>A
|
rs776064965
|
0.00001
|
|
NM_014844.5(TECPR2):c.2235G>A (p.Arg745=)
|
rs1251921348
|
0.00001
|
|
NM_014844.5(TECPR2):c.2244A>G (p.Thr748=)
|
rs977750461
|
0.00001
|
|
NM_014844.5(TECPR2):c.225G>A (p.Lys75=)
|
rs866818130
|
0.00001
|
|
NM_014844.5(TECPR2):c.2281G>A (p.Gly761Arg)
|
rs985650252
|
0.00001
|
|
NM_014844.5(TECPR2):c.2316A>G (p.Thr772=)
|
rs755252691
|
0.00001
|
|
NM_014844.5(TECPR2):c.2359G>A (p.Gly787Ser)
|
rs780941342
|
0.00001
|
|
NM_014844.5(TECPR2):c.2382C>T (p.Leu794=)
|
rs369859838
|
0.00001
|
|
NM_014844.5(TECPR2):c.2388A>G (p.Pro796=)
|
rs766613606
|
0.00001
|
|
NM_014844.5(TECPR2):c.2394+14G>A
|
rs1383650164
|
0.00001
|
|
NM_014844.5(TECPR2):c.2395-19C>T
|
rs749985958
|
0.00001
|
|
NM_014844.5(TECPR2):c.2414G>A (p.Gly805Asp)
|
rs201418942
|
0.00001
|
|
NM_014844.5(TECPR2):c.2427C>T (p.Pro809=)
|
rs200127253
|
0.00001
|
|
NM_014844.5(TECPR2):c.2442C>A (p.Leu814=)
|
rs1227670267
|
0.00001
|
|
NM_014844.5(TECPR2):c.2453T>C (p.Val818Ala)
|
rs766994977
|
0.00001
|
|
NM_014844.5(TECPR2):c.2457C>G (p.Ser819=)
|
rs765475573
|
0.00001
|
|
NM_014844.5(TECPR2):c.2469C>A (p.Ile823=)
|
rs1472580991
|
0.00001
|
|
NM_014844.5(TECPR2):c.2493C>G (p.Gly831=)
|
rs773249606
|
0.00001
|
|
NM_014844.5(TECPR2):c.2495_2498dup (p.Cys834fs)
|
rs1364819755
|
0.00001
|
|
NM_014844.5(TECPR2):c.2502C>T (p.Cys834=)
|
rs1265644311
|
0.00001
|
|
NM_014844.5(TECPR2):c.2520C>T (p.Ala840=)
|
rs767431269
|
0.00001
|
|
NM_014844.5(TECPR2):c.2523G>A (p.Gly841=)
|
rs760185994
|
0.00001
|
|
NM_014844.5(TECPR2):c.2527C>T (p.Arg843Cys)
|
rs1337707151
|
0.00001
|
|
NM_014844.5(TECPR2):c.2528G>A (p.Arg843His)
|
rs765981384
|
0.00001
|
|
NM_014844.5(TECPR2):c.2553C>A (p.Val851=)
|
rs1197949352
|
0.00001
|
|
NM_014844.5(TECPR2):c.2574C>T (p.Pro858=)
|
rs1166777259
|
0.00001
|
|
NM_014844.5(TECPR2):c.2578+5G>A
|
rs1247861941
|
0.00001
|
|
NM_014844.5(TECPR2):c.2578+8T>G
|
rs1567342020
|
0.00001
|
|
NM_014844.5(TECPR2):c.2675C>T (p.Pro892Leu)
|
rs762680033
|
0.00001
|
|
NM_014844.5(TECPR2):c.2694C>T (p.Ala898=)
|
rs202031176
|
0.00001
|
|
NM_014844.5(TECPR2):c.2700C>T (p.Ser900=)
|
rs545614481
|
0.00001
|
|
NM_014844.5(TECPR2):c.2701G>A (p.Asp901Asn)
|
rs967777387
|
0.00001
|
|
NM_014844.5(TECPR2):c.2708C>T (p.Thr903Met)
|
rs752912949
|
0.00001
|
|
NM_014844.5(TECPR2):c.2757G>A (p.Leu919=)
|
rs771941325
|
0.00001
|
|
NM_014844.5(TECPR2):c.2808G>A (p.Pro936=)
|
rs1429105020
|
0.00001
|
|
NM_014844.5(TECPR2):c.2856G>A (p.Glu952=)
|
rs771816482
|
0.00001
|
|
NM_014844.5(TECPR2):c.2859G>A (p.Gln953=)
|
rs570449027
|
0.00001
|
|
NM_014844.5(TECPR2):c.2876G>A (p.Arg959Gln)
|
rs763118922
|
0.00001
|
|
NM_014844.5(TECPR2):c.2934-11_2934-9del
|
rs776462274
|
0.00001
|
|
NM_014844.5(TECPR2):c.2971G>A (p.Gly991Arg)
|
rs769632840
|
0.00001
|
|
NM_014844.5(TECPR2):c.297C>G (p.Gly99=)
|
rs1345955584
|
0.00001
|
|
NM_014844.5(TECPR2):c.2995C>T (p.Leu999=)
|
rs748256563
|
0.00001
|
|
NM_014844.5(TECPR2):c.3072G>A (p.Trp1024Ter)
|
rs765880201
|
0.00001
|
|
NM_014844.5(TECPR2):c.3090C>T (p.Asp1030=)
|
rs1890085599
|
0.00001
|
|
NM_014844.5(TECPR2):c.3104A>G (p.Asp1035Gly)
|
rs1060502181
|
0.00001
|
|
NM_014844.5(TECPR2):c.3126G>A (p.Thr1042=)
|
rs200175137
|
0.00001
|
|
NM_014844.5(TECPR2):c.3172G>A (p.Val1058Ile)
|
rs149704865
|
0.00001
|
|
NM_014844.5(TECPR2):c.3182T>C (p.Val1061Ala)
|
rs1567347217
|
0.00001
|
|
NM_014844.5(TECPR2):c.3196C>T (p.Arg1066Cys)
|
rs776056002
|
0.00001
|
|
NM_014844.5(TECPR2):c.3197G>A (p.Arg1066His)
|
rs868392319
|
0.00001
|
|
NM_014844.5(TECPR2):c.3231G>A (p.Gln1077=)
|
rs1467679665
|
0.00001
|
|
NM_014844.5(TECPR2):c.3236G>A (p.Ser1079Asn)
|
rs765999317
|
0.00001
|
|
NM_014844.5(TECPR2):c.3297C>T (p.Val1099=)
|
rs145454921
|
0.00001
|
|
NM_014844.5(TECPR2):c.3321C>T (p.Thr1107=)
|
rs1472780559
|
0.00001
|
|
NM_014844.5(TECPR2):c.3333T>C (p.His1111=)
|
rs1439649876
|
0.00001
|
|
NM_014844.5(TECPR2):c.3363A>C (p.Thr1121=)
|
rs1316923746
|
0.00001
|
|
NM_014844.5(TECPR2):c.3399G>A (p.Thr1133=)
|
rs765318084
|
0.00001
|
|
NM_014844.5(TECPR2):c.33A>G (p.Arg11=)
|
rs1214503332
|
0.00001
|
|
NM_014844.5(TECPR2):c.3416del (p.Leu1139fs)
|
rs751970061
|
0.00001
|
|
NM_014844.5(TECPR2):c.3475C>T (p.Arg1159Trp)
|
rs202087410
|
0.00001
|
|
NM_014844.5(TECPR2):c.3486G>A (p.Thr1162=)
|
rs747983532
|
0.00001
|
|
NM_014844.5(TECPR2):c.349-4A>T
|
rs371043285
|
0.00001
|
|
NM_014844.5(TECPR2):c.3514C>G (p.Arg1172Gly)
|
rs762957508
|
0.00001
|
|
NM_014844.5(TECPR2):c.3516C>T (p.Arg1172=)
|
rs774508523
|
0.00001
|
|
NM_014844.5(TECPR2):c.3540G>A (p.Ala1180=)
|
rs368289607
|
0.00001
|
|
NM_014844.5(TECPR2):c.3549G>A (p.Ala1183=)
|
rs564868110
|
0.00001
|
|
NM_014844.5(TECPR2):c.354G>A (p.Arg118=)
|
rs1302519830
|
0.00001
|
|
NM_014844.5(TECPR2):c.3590A>G (p.Lys1197Arg)
|
rs1230456153
|
0.00001
|
|
NM_014844.5(TECPR2):c.3603G>A (p.Thr1201=)
|
rs773460001
|
0.00001
|
|
NM_014844.5(TECPR2):c.3618C>T (p.Thr1206=)
|
rs1378683693
|
0.00001
|
|
NM_014844.5(TECPR2):c.3641-4A>G
|
rs374009074
|
0.00001
|
|
NM_014844.5(TECPR2):c.3641-9T>C
|
rs781116239
|
0.00001
|
|
NM_014844.5(TECPR2):c.3681C>T (p.His1227=)
|
rs779898163
|
0.00001
|
|
NM_014844.5(TECPR2):c.3702G>A (p.Arg1234=)
|
rs1227548784
|
0.00001
|
|
NM_014844.5(TECPR2):c.3708A>G (p.Gly1236=)
|
rs777191623
|
0.00001
|
|
NM_014844.5(TECPR2):c.3744C>T (p.Pro1248=)
|
rs373973558
|
0.00001
|
|
NM_014844.5(TECPR2):c.3792C>T (p.Pro1264=)
|
rs766197921
|
0.00001
|
|
NM_014844.5(TECPR2):c.3803G>A (p.Ser1268Asn)
|
rs1891298626
|
0.00001
|
|
NM_014844.5(TECPR2):c.3806T>C (p.Leu1269Ser)
|
rs750718382
|
0.00001
|
|
NM_014844.5(TECPR2):c.384T>C (p.Asn128=)
|
rs776297932
|
0.00001
|
|
NM_014844.5(TECPR2):c.3867C>T (p.Asn1289=)
|
rs577262480
|
0.00001
|
|
NM_014844.5(TECPR2):c.3931+10T>G
|
rs776100340
|
0.00001
|
|
NM_014844.5(TECPR2):c.3954G>T (p.Ala1318=)
|
rs779731666
|
0.00001
|
|
NM_014844.5(TECPR2):c.3969C>T (p.Thr1323=)
|
rs562186436
|
0.00001
|
|
NM_014844.5(TECPR2):c.3981C>T (p.Arg1327=)
|
rs1374798188
|
0.00001
|
|
NM_014844.5(TECPR2):c.39C>T (p.Phe13=)
|
rs1397291493
|
0.00001
|
|
NM_014844.5(TECPR2):c.4085C>T (p.Thr1362Ile)
|
rs766050891
|
0.00001
|
|
NM_014844.5(TECPR2):c.408C>T (p.Ser136=)
|
rs758465886
|
0.00001
|
|
NM_014844.5(TECPR2):c.4125C>T (p.Tyr1375=)
|
rs774588446
|
0.00001
|
|
NM_014844.5(TECPR2):c.4149G>A (p.Thr1383=)
|
rs776285112
|
0.00001
|
|
NM_014844.5(TECPR2):c.4158C>T (p.His1386=)
|
rs1043906046
|
0.00001
|
|
NM_014844.5(TECPR2):c.4170C>G (p.Thr1390=)
|
rs1249316065
|
0.00001
|
|
NM_014844.5(TECPR2):c.4218C>T (p.Asp1406=)
|
rs781071686
|
0.00001
|
|
NM_014844.5(TECPR2):c.4227G>A (p.Glu1409=)
|
rs1393860120
|
0.00001
|
|
NM_014844.5(TECPR2):c.429C>T (p.Phe143=)
|
rs780166230
|
0.00001
|
|
NM_014844.5(TECPR2):c.541A>G (p.Ser181Gly)
|
rs200469835
|
0.00001
|
|
NM_014844.5(TECPR2):c.588T>C (p.Phe196=)
|
rs1240987394
|
0.00001
|
|
NM_014844.5(TECPR2):c.609A>G (p.Val203=)
|
rs959005327
|
0.00001
|
|
NM_014844.5(TECPR2):c.627A>G (p.Gln209=)
|
rs1787062022
|
0.00001
|
|
NM_014844.5(TECPR2):c.744C>T (p.His248=)
|
rs771721656
|
0.00001
|
|
NM_014844.5(TECPR2):c.816G>A (p.Pro272=)
|
rs369410138
|
0.00001
|
|
NM_014844.5(TECPR2):c.81C>A (p.Ile27=)
|
rs1340120925
|
0.00001
|
|
NM_014844.5(TECPR2):c.879A>G (p.Ser293=)
|
rs770891190
|
0.00001
|
|
NM_014844.5(TECPR2):c.952-10T>C
|
rs1402559911
|
0.00001
|
|
NM_014844.5(TECPR2):c.952G>A (p.Ala318Thr)
|
rs1407792035
|
0.00001
|
|
NM_014844.5(TECPR2):c.987T>C (p.Ile329=)
|
rs1010583798
|
0.00001
|
|
NM_014846.4(WASHC5):c.1211G>A (p.Arg404Gln)
|
rs753133551
|
0.00001
|
|
NM_014846.4(WASHC5):c.1235A>G (p.Gln412Arg)
|
rs1328488239
|
0.00001
|
|
NM_014846.4(WASHC5):c.1297T>C (p.Ser433Pro)
|
rs766713240
|
0.00001
|
|
NM_014846.4(WASHC5):c.1299A>G (p.Ser433=)
|
rs750598437
|
0.00001
|
|
NM_014846.4(WASHC5):c.1408+4A>C
|
rs780340651
|
0.00001
|
|
NM_014846.4(WASHC5):c.143A>G (p.Gln48Arg)
|
rs1357562835
|
0.00001
|
|
NM_014846.4(WASHC5):c.1521+10C>T
|
rs760233617
|
0.00001
|
|
NM_014846.4(WASHC5):c.1611C>G (p.Thr537=)
|
rs1375065582
|
0.00001
|
|
NM_014846.4(WASHC5):c.1650C>T (p.Ile550=)
|
rs780912744
|
0.00001
|
|
NM_014846.4(WASHC5):c.166T>C (p.Phe56Leu)
|
rs751591590
|
0.00001
|
|
NM_014846.4(WASHC5):c.1688+10G>A
|
rs200755877
|
0.00001
|
|
NM_014846.4(WASHC5):c.1728A>G (p.Pro576=)
|
rs767965256
|
0.00001
|
|
NM_014846.4(WASHC5):c.1785G>T (p.Leu595=)
|
rs1044612540
|
0.00001
|
|
NM_014846.4(WASHC5):c.2008C>T (p.Arg670Ter)
|
rs762401591
|
0.00001
|
|
NM_014846.4(WASHC5):c.2032C>T (p.His678Tyr)
|
rs1403229183
|
0.00001
|
|
NM_014846.4(WASHC5):c.2098-6A>G
|
rs984555140
|
0.00001
|
|
NM_014846.4(WASHC5):c.2120A>C (p.Glu707Ala)
|
rs748085274
|
0.00001
|
|
NM_014846.4(WASHC5):c.2199+14A>G
|
rs754889043
|
0.00001
|
|
NM_014846.4(WASHC5):c.2262T>C (p.Ser754=)
|
rs1482343617
|
0.00001
|
|
NM_014846.4(WASHC5):c.2379+8A>T
|
rs1198647443
|
0.00001
|
|
NM_014846.4(WASHC5):c.2457G>A (p.Thr819=)
|
rs572892084
|
0.00001
|
|
NM_014846.4(WASHC5):c.2505-1G>C
|
rs953586472
|
0.00001
|
|
NM_014846.4(WASHC5):c.2627T>C (p.Leu876Ser)
|
rs1289915533
|
0.00001
|
|
NM_014846.4(WASHC5):c.2667+10T>C
|
rs1815997560
|
0.00001
|
|
NM_014846.4(WASHC5):c.2769C>T (p.Val923=)
|
rs545318648
|
0.00001
|
|
NM_014846.4(WASHC5):c.2846T>C (p.Met949Thr)
|
rs1182525812
|
0.00001
|
|
NM_014846.4(WASHC5):c.2881A>G (p.Ile961Val)
|
rs1381772866
|
0.00001
|
|
NM_014846.4(WASHC5):c.2955-10C>G
|
rs1388469388
|
0.00001
|
|
NM_014846.4(WASHC5):c.3104G>A (p.Arg1035His)
|
rs761500521
|
0.00001
|
|
NM_014846.4(WASHC5):c.3118C>G (p.Pro1040Ala)
|
rs775752911
|
0.00001
|
|
NM_014846.4(WASHC5):c.3121A>G (p.Ile1041Val)
|
rs1184928685
|
0.00001
|
|
NM_014846.4(WASHC5):c.3145G>A (p.Ala1049Thr)
|
rs375664674
|
0.00001
|
|
NM_014846.4(WASHC5):c.348C>T (p.Leu116=)
|
rs1817292048
|
0.00001
|
|
NM_014846.4(WASHC5):c.435A>G (p.Leu145=)
|
rs145842027
|
0.00001
|
|
NM_014846.4(WASHC5):c.511C>T (p.Arg171Ter)
|
rs1462319941
|
0.00001
|
|
NM_014846.4(WASHC5):c.518+12C>T
|
rs776771436
|
0.00001
|
|
NM_014846.4(WASHC5):c.636C>T (p.Phe212=)
|
rs190007736
|
0.00001
|
|
NM_014846.4(WASHC5):c.654C>T (p.Asn218=)
|
rs144085283
|
0.00001
|
|
NM_014846.4(WASHC5):c.682C>T (p.Arg228Ter)
|
rs754463353
|
0.00001
|
|
NM_014846.4(WASHC5):c.735G>C (p.Glu245Asp)
|
rs765982075
|
0.00001
|
|
NM_014846.4(WASHC5):c.863G>C (p.Trp288Ser)
|
rs1019440298
|
0.00001
|
|
NM_014846.4(WASHC5):c.864+5G>C
|
rs772529893
|
0.00001
|
|
NM_014846.4(WASHC5):c.872G>A (p.Ser291Asn)
|
rs753529606
|
0.00001
|
|
NM_014846.4(WASHC5):c.885G>A (p.Gly295=)
|
rs1435894101
|
0.00001
|
|
NM_014846.4(WASHC5):c.975A>G (p.Glu325=)
|
rs773768832
|
0.00001
|
|
NM_014855.3(AP5Z1):c.*10G>A
|
rs549404448
|
0.00001
|
|
NM_014855.3(AP5Z1):c.*1203G>A
|
rs886062358
|
0.00001
|
|
NM_014855.3(AP5Z1):c.*1204C>G
|
rs886062359
|
0.00001
|
|
NM_014855.3(AP5Z1):c.*1220A>G
|
rs1446711478
|
0.00001
|
|
NM_014855.3(AP5Z1):c.*152G>T
|
rs886062355
|
0.00001
|
|
NM_014855.3(AP5Z1):c.*1930T>C
|
rs1284812693
|
0.00001
|
|
NM_014855.3(AP5Z1):c.*229G>A
|
rs535419745
|
0.00001
|
|
NM_014855.3(AP5Z1):c.*261G>A
|
rs1315573812
|
0.00001
|
|
NM_014855.3(AP5Z1):c.*2940C>T
|
rs573728891
|
0.00001
|
|
NM_014855.3(AP5Z1):c.*346A>G
|
rs1045763673
|
0.00001
|
|
NM_014855.3(AP5Z1):c.*625G>A
|
rs959075651
|
0.00001
|
|
NM_014855.3(AP5Z1):c.*754G>A
|
rs759877524
|
0.00001
|
|
NM_014855.3(AP5Z1):c.1000G>A (p.Val334Met)
|
rs750795563
|
0.00001
|
|
NM_014855.3(AP5Z1):c.1010G>A (p.Arg337Gln)
|
rs549733205
|
0.00001
|
|
NM_014855.3(AP5Z1):c.1072C>T (p.Arg358Cys)
|
rs551568063
|
0.00001
|
|
NM_014855.3(AP5Z1):c.1074C>T (p.Arg358=)
|
rs774452213
|
0.00001
|
|
NM_014855.3(AP5Z1):c.1097T>C (p.Val366Ala)
|
rs1308876232
|
0.00001
|
|
NM_014855.3(AP5Z1):c.1119C>T (p.Phe373=)
|
rs886062353
|
0.00001
|
|
NM_014855.3(AP5Z1):c.1132+10G>A
|
rs763573216
|
0.00001
|
|
NM_014855.3(AP5Z1):c.1135G>A (p.Glu379Lys)
|
rs772831449
|
0.00001
|
|
NM_014855.3(AP5Z1):c.1428G>A (p.Leu476=)
|
rs1554258349
|
0.00001
|
|
NM_014855.3(AP5Z1):c.1431G>A (p.Thr477=)
|
rs369951556
|
0.00001
|
|
NM_014855.3(AP5Z1):c.1493C>T (p.Thr498Ile)
|
rs1562411400
|
0.00001
|
|
NM_014855.3(AP5Z1):c.1543C>T (p.Gln515Ter)
|
rs1342590804
|
0.00001
|
|
NM_014855.3(AP5Z1):c.1595+19A>G
|
rs111580118
|
0.00001
|
|
NM_014855.3(AP5Z1):c.1597T>C (p.Leu533=)
|
rs775572689
|
0.00001
|
|
NM_014855.3(AP5Z1):c.1611C>T (p.His537=)
|
rs768151612
|
0.00001
|
|
NM_014855.3(AP5Z1):c.1665C>T (p.Ala555=)
|
rs761290075
|
0.00001
|
|
NM_014855.3(AP5Z1):c.1707+14C>T
|
rs759055397
|
0.00001
|
|
NM_014855.3(AP5Z1):c.1716C>T (p.Asp572=)
|
rs777196051
|
0.00001
|
|
NM_014855.3(AP5Z1):c.171C>T (p.Tyr57=)
|
rs750818039
|
0.00001
|
|
NM_014855.3(AP5Z1):c.179+15G>A
|
rs749007746
|
0.00001
|
|
NM_014855.3(AP5Z1):c.1863G>A (p.Glu621=)
|
rs780422345
|
0.00001
|
|
NM_014855.3(AP5Z1):c.1910G>A (p.Cys637Tyr)
|
rs557706442
|
0.00001
|
|
NM_014855.3(AP5Z1):c.1949T>G (p.Ile650Ser)
|
rs997666417
|
0.00001
|
|
NM_014855.3(AP5Z1):c.1963T>C (p.Ser655Pro)
|
rs764228580
|
0.00001
|
|
NM_014855.3(AP5Z1):c.1970C>T (p.Thr657Ile)
|
rs1243924522
|
0.00001
|
|
NM_014855.3(AP5Z1):c.2038G>A (p.Glu680Lys)
|
rs745870220
|
0.00001
|
|
NM_014855.3(AP5Z1):c.2081C>T (p.Pro694Leu)
|
rs1368922764
|
0.00001
|
|
NM_014855.3(AP5Z1):c.2089G>T (p.Val697Leu)
|
rs769732363
|
0.00001
|
|
NM_014855.3(AP5Z1):c.2113C>G (p.Leu705Val)
|
rs762540035
|
0.00001
|
|
NM_014855.3(AP5Z1):c.2118G>A (p.Thr706=)
|
rs374137416
|
0.00001
|
|
NM_014855.3(AP5Z1):c.2154-4C>G
|
rs1392478975
|
0.00001
|
|
NM_014855.3(AP5Z1):c.2180G>A (p.Arg727Lys)
|
rs1250099836
|
0.00001
|
|
NM_014855.3(AP5Z1):c.2189C>T (p.Ala730Val)
|
rs750683459
|
0.00001
|
|
NM_014855.3(AP5Z1):c.2231C>T (p.Ala744Val)
|
rs776245278
|
0.00001
|
|
NM_014855.3(AP5Z1):c.2249G>A (p.Arg750Gln)
|
rs778239868
|
0.00001
|
|
NM_014855.3(AP5Z1):c.2274G>A (p.Leu758=)
|
rs965077399
|
0.00001
|
|
NM_014855.3(AP5Z1):c.2286C>T (p.Ser762=)
|
rs542956735
|
0.00001
|
|
NM_014855.3(AP5Z1):c.2289G>C (p.Val763=)
|
rs925870726
|
0.00001
|
|
NM_014855.3(AP5Z1):c.2291C>T (p.Ala764Val)
|
rs1781762371
|
0.00001
|
|
NM_014855.3(AP5Z1):c.2345A>G (p.Asp782Gly)
|
rs779642265
|
0.00001
|
|
NM_014855.3(AP5Z1):c.2367G>C (p.Leu789=)
|
rs1405994261
|
0.00001
|
|
NM_014855.3(AP5Z1):c.2391G>T (p.Leu797=)
|
rs750850551
|
0.00001
|
|
NM_014855.3(AP5Z1):c.2399G>A (p.Arg800Lys)
|
rs754594403
|
0.00001
|
|
NM_014855.3(AP5Z1):c.2414T>C (p.Met805Thr)
|
rs1287234215
|
0.00001
|
|
NM_014855.3(AP5Z1):c.271C>T (p.Arg91Ter)
|
rs767325342
|
0.00001
|
|
NM_014855.3(AP5Z1):c.392C>T (p.Ala131Val)
|
rs372539355
|
0.00001
|
|
NM_014855.3(AP5Z1):c.394G>A (p.Val132Met)
|
rs886062349
|
0.00001
|
|
NM_014855.3(AP5Z1):c.412C>T (p.Arg138Ter)
|
rs778457903
|
0.00001
|
|
NM_014855.3(AP5Z1):c.42G>A (p.Arg14=)
|
rs1469934561
|
0.00001
|
|
NM_014855.3(AP5Z1):c.460C>T (p.Leu154Phe)
|
rs759815287
|
0.00001
|
|
NM_014855.3(AP5Z1):c.478G>A (p.Val160Ile)
|
rs752115827
|
0.00001
|
|
NM_014855.3(AP5Z1):c.49C>T (p.Gln17Ter)
|
rs765332596
|
0.00001
|
|
NM_014855.3(AP5Z1):c.560C>T (p.Ala187Val)
|
rs1325471838
|
0.00001
|
|
NM_014855.3(AP5Z1):c.561C>T (p.Ala187=)
|
rs754635814
|
0.00001
|
|
NM_014855.3(AP5Z1):c.575G>A (p.Gly192Glu)
|
rs752495902
|
0.00001
|
|
NM_014855.3(AP5Z1):c.606G>A (p.Thr202=)
|
rs928947081
|
0.00001
|
|
NM_014855.3(AP5Z1):c.616C>T (p.Arg206Trp)
|
rs761451474
|
0.00001
|
|
NM_014855.3(AP5Z1):c.631G>A (p.Val211Ile)
|
rs771385792
|
0.00001
|
|
NM_014855.3(AP5Z1):c.721C>T (p.Gln241Ter)
|
rs751778396
|
0.00001
|
|
NM_014855.3(AP5Z1):c.753G>A (p.Leu251=)
|
rs908638350
|
0.00001
|
|
NM_014855.3(AP5Z1):c.779C>T (p.Thr260Ile)
|
rs894028182
|
0.00001
|
|
NM_014855.3(AP5Z1):c.790+7G>A
|
rs759449685
|
0.00001
|
|
NM_014855.3(AP5Z1):c.791-10C>T
|
rs760000663
|
0.00001
|
|
NM_014855.3(AP5Z1):c.812G>A (p.Gly271Asp)
|
rs780846649
|
0.00001
|
|
NM_014855.3(AP5Z1):c.819T>G (p.Thr273=)
|
rs1395360669
|
0.00001
|
|
NM_014855.3(AP5Z1):c.869G>A (p.Arg290Gln)
|
rs778734781
|
0.00001
|
|
NM_014855.3(AP5Z1):c.903C>T (p.Cys301=)
|
rs767005823
|
0.00001
|
|
NM_014855.3(AP5Z1):c.931C>T (p.Arg311Ter)
|
rs376075583
|
0.00001
|
|
NM_014946.4(SPAST):c.*1029G>A
|
rs1450820813
|
0.00001
|
|
NM_014946.4(SPAST):c.*1731G>T
|
rs1309040715
|
0.00001
|
|
NM_014946.4(SPAST):c.*1829C>T
|
rs886055978
|
0.00001
|
|
NM_014946.4(SPAST):c.*19C>T
|
rs558483397
|
0.00001
|
|
NM_014946.4(SPAST):c.*478G>T
|
rs886055966
|
0.00001
|
|
NM_014946.4(SPAST):c.1087C>T (p.Leu363=)
|
rs769858706
|
0.00001
|
|
NM_014946.4(SPAST):c.10C>G (p.Pro4Ala)
|
rs937319046
|
0.00001
|
|
NM_014946.4(SPAST):c.1121C>T (p.Pro374Leu)
|
rs1471030618
|
0.00001
|
|
NM_014946.4(SPAST):c.113C>G (p.Pro38Arg)
|
rs1041662261
|
0.00001
|
|
NM_014946.4(SPAST):c.1245+12G>A
|
rs766012036
|
0.00001
|
|
NM_014946.4(SPAST):c.1245+1G>A
|
rs875989878
|
0.00001
|
|
NM_014946.4(SPAST):c.1292G>A (p.Arg431Gln)
|
rs748779010
|
0.00001
|
|
NM_014946.4(SPAST):c.1321+9A>G
|
rs201349526
|
0.00001
|
|
NM_014946.4(SPAST):c.1322-18T>C
|
rs1469260346
|
0.00001
|
|
NM_014946.4(SPAST):c.1365C>T (p.His455=)
|
rs748788182
|
0.00001
|
|
NM_014946.4(SPAST):c.137A>G (p.His46Arg)
|
rs778952334
|
0.00001
|
|
NM_014946.4(SPAST):c.1577G>A (p.Gly526Glu)
|
rs750991507
|
0.00001
|
|
NM_014946.4(SPAST):c.157T>G (p.Phe53Val)
|
rs200029938
|
0.00001
|
|
NM_014946.4(SPAST):c.1685G>A (p.Arg562Gln)
|
rs863224923
|
0.00001
|
|
NM_014946.4(SPAST):c.171G>C (p.Leu57=)
|
rs1057523187
|
0.00001
|
|
NM_014946.4(SPAST):c.1738A>G (p.Ile580Val)
|
rs1259072587
|
0.00001
|
|
NM_014946.4(SPAST):c.1805A>C (p.Glu602Ala)
|
rs776152816
|
0.00001
|
|
NM_014946.4(SPAST):c.1817G>A (p.Arg606His)
|
rs768077366
|
0.00001
|
|
NM_014946.4(SPAST):c.20G>C (p.Arg7Pro)
|
rs750900931
|
0.00001
|
|
NM_014946.4(SPAST):c.280G>C (p.Gly94Arg)
|
rs750218565
|
0.00001
|
|
NM_014946.4(SPAST):c.302C>T (p.Ser101Leu)
|
rs746263735
|
0.00001
|
|
NM_014946.4(SPAST):c.303G>T (p.Ser101=)
|
rs1232419017
|
0.00001
|
|
NM_014946.4(SPAST):c.343C>T (p.Arg115Cys)
|
rs1272546651
|
0.00001
|
|
NM_014946.4(SPAST):c.421C>T (p.Gln141Ter)
|
rs1485703744
|
0.00001
|
|
NM_014946.4(SPAST):c.423G>A (p.Gln141=)
|
rs753233534
|
0.00001
|
|
NM_014946.4(SPAST):c.488T>C (p.Ile163Thr)
|
rs748674789
|
0.00001
|
|
NM_014946.4(SPAST):c.51C>G (p.Ser17Arg)
|
rs1303074496
|
0.00001
|
|
NM_014946.4(SPAST):c.555G>C (p.Leu185Phe)
|
rs377698691
|
0.00001
|
|
NM_014946.4(SPAST):c.55C>T (p.Pro19Ser)
|
rs372349942
|
0.00001
|
|
NM_014946.4(SPAST):c.626C>T (p.Thr209Met)
|
rs537855621
|
0.00001
|
|
NM_014946.4(SPAST):c.630C>T (p.Asp210=)
|
rs150444792
|
0.00001
|
|
NM_014946.4(SPAST):c.679T>G (p.Ser227Ala)
|
rs762126088
|
0.00001
|
|
NM_014946.4(SPAST):c.742C>T (p.Arg248Cys)
|
rs757176714
|
0.00001
|
|
NM_014946.4(SPAST):c.743G>A (p.Arg248His)
|
rs201395991
|
0.00001
|
|
NM_014946.4(SPAST):c.80C>T (p.Pro27Leu)
|
rs1361493550
|
0.00001
|
|
NM_014946.4(SPAST):c.89C>T (p.Ala30Val)
|
rs781516235
|
0.00001
|
|
NM_014946.4(SPAST):c.935A>C (p.Lys312Thr)
|
rs540279272
|
0.00001
|
|
NM_014946.4(SPAST):c.97C>G (p.Pro33Ala)
|
rs1403480959
|
0.00001
|
|
NM_014946.4(SPAST):c.98C>T (p.Pro33Leu)
|
rs777721232
|
0.00001
|
|
NM_015046.7(SETX):c.2427C>G (p.Ile809Met)
|
rs765654690
|
0.00001
|
|
NM_015046.7(SETX):c.2711A>G (p.Asn904Ser)
|
rs143265750
|
0.00001
|
|
NM_015046.7(SETX):c.304A>G (p.Thr102Ala)
|
rs770962447
|
0.00001
|
|
NM_015046.7(SETX):c.3410G>A (p.Gly1137Asp)
|
rs62576475
|
0.00001
|
|
NM_015046.7(SETX):c.4711G>A (p.Val1571Met)
|
rs745970760
|
0.00001
|
|
NM_015046.7(SETX):c.5973C>T (p.Asp1991=)
|
rs1210056357
|
0.00001
|
|
NM_015046.7(SETX):c.6024T>C (p.Pro2008=)
|
rs1045096306
|
0.00001
|
|
NM_015046.7(SETX):c.6355G>C (p.Val2119Leu)
|
rs1264446335
|
0.00001
|
|
NM_015087.5(SPART):c.*1014A>G
|
rs886050134
|
0.00001
|
|
NM_015087.5(SPART):c.*2256G>A
|
rs886050131
|
0.00001
|
|
NM_015087.5(SPART):c.1093T>C (p.Ser365Pro)
|
rs369101005
|
0.00001
|
|
NM_015087.5(SPART):c.1399G>A (p.Val467Met)
|
rs763966969
|
0.00001
|
|
NM_015087.5(SPART):c.1909G>A (p.Glu637Lys)
|
rs1050317633
|
0.00001
|
|
NM_015161.3(ARL6IP1):c.171G>A (p.Leu57=)
|
rs767572069
|
0.00001
|
|
NM_015161.3(ARL6IP1):c.205G>A (p.Gly69Ser)
|
rs770346896
|
0.00001
|
|
NM_015161.3(ARL6IP1):c.346C>T (p.Arg116Ter)
|
rs750623911
|
0.00001
|
|
NM_015161.3(ARL6IP1):c.409-2A>G
|
rs767874638
|
0.00001
|
|
NM_015161.3(ARL6IP1):c.566G>A (p.Arg189Lys)
|
rs148872516
|
0.00001
|
|
NM_015214.3(DDHD2):c.1095A>G (p.Lys365=)
|
rs1805628293
|
0.00001
|
|
NM_015214.3(DDHD2):c.1126-13A>G
|
rs759750987
|
0.00001
|
|
NM_015214.3(DDHD2):c.1157A>C (p.Asp386Ala)
|
rs1187124864
|
0.00001
|
|
NM_015214.3(DDHD2):c.1248+2T>C
|
rs753950471
|
0.00001
|
|
NM_015214.3(DDHD2):c.1250C>A (p.Ala417Asp)
|
rs376393703
|
0.00001
|
|
NM_015214.3(DDHD2):c.1448T>C (p.Val483Ala)
|
rs1258523026
|
0.00001
|
|
NM_015214.3(DDHD2):c.1461+5C>G
|
rs375678849
|
0.00001
|
|
NM_015214.3(DDHD2):c.1478C>G (p.Pro493Arg)
|
rs753206667
|
0.00001
|
|
NM_015214.3(DDHD2):c.1526T>C (p.Ile509Thr)
|
rs748099521
|
0.00001
|
|
NM_015214.3(DDHD2):c.1574A>G (p.Tyr525Cys)
|
rs370811347
|
0.00001
|
|
NM_015214.3(DDHD2):c.1618-6A>T
|
rs745477461
|
0.00001
|
|
NM_015214.3(DDHD2):c.1648A>G (p.Met550Val)
|
rs187350175
|
0.00001
|
|
NM_015214.3(DDHD2):c.1662A>G (p.Gly554=)
|
rs929696583
|
0.00001
|
|
NM_015214.3(DDHD2):c.1720+9G>A
|
rs745620727
|
0.00001
|
|
NM_015214.3(DDHD2):c.1771C>A (p.Leu591Ile)
|
rs758122725
|
0.00001
|
|
NM_015214.3(DDHD2):c.1779G>A (p.Ser593=)
|
rs751112891
|
0.00001
|
|
NM_015214.3(DDHD2):c.1783C>T (p.Arg595Trp)
|
rs1215601645
|
0.00001
|
|
NM_015214.3(DDHD2):c.1796A>G (p.Lys599Arg)
|
rs1487744193
|
0.00001
|
|
NM_015214.3(DDHD2):c.1869A>G (p.Glu623=)
|
rs775739636
|
0.00001
|
|
NM_015214.3(DDHD2):c.1903G>A (p.Glu635Lys)
|
rs371076038
|
0.00001
|
|
NM_015214.3(DDHD2):c.1923T>G (p.Val641=)
|
rs958442410
|
0.00001
|
|
NM_015214.3(DDHD2):c.1938G>T (p.Leu646=)
|
rs767484541
|
0.00001
|
|
NM_015214.3(DDHD2):c.2019G>C (p.Glu673Asp)
|
rs997716780
|
0.00001
|
|
NM_015214.3(DDHD2):c.2103C>T (p.Thr701=)
|
rs1029545577
|
0.00001
|
|
NM_015214.3(DDHD2):c.292C>T (p.Arg98Trp)
|
rs372220151
|
0.00001
|
|
NM_015214.3(DDHD2):c.312T>G (p.Asp104Glu)
|
rs765795609
|
0.00001
|
|
NM_015214.3(DDHD2):c.334C>T (p.Arg112Ter)
|
rs755267771
|
0.00001
|
|
NM_015214.3(DDHD2):c.379C>G (p.Pro127Ala)
|
rs750939885
|
0.00001
|
|
NM_015214.3(DDHD2):c.381C>T (p.Pro127=)
|
rs1334551717
|
0.00001
|
|
NM_015214.3(DDHD2):c.420C>A (p.Tyr140Ter)
|
rs939799061
|
0.00001
|
|
NM_015214.3(DDHD2):c.471C>A (p.Asn157Lys)
|
rs777858708
|
0.00001
|
|
NM_015214.3(DDHD2):c.568C>T (p.Arg190Ter)
|
rs377293194
|
0.00001
|
|
NM_015214.3(DDHD2):c.694C>T (p.Arg232Ter)
|
rs1249841130
|
0.00001
|
|
NM_015214.3(DDHD2):c.859C>T (p.Arg287Ter)
|
rs398122826
|
0.00001
|
|
NM_015214.3(DDHD2):c.876C>T (p.Ser292=)
|
rs780244159
|
0.00001
|
|
NM_015214.3(DDHD2):c.929A>G (p.Tyr310Cys)
|
rs771731389
|
0.00001
|
|
NM_015214.3(DDHD2):c.985C>T (p.Arg329Ter)
|
rs201258800
|
0.00001
|
|
NM_015214.3(DDHD2):c.995C>T (p.Thr332Ile)
|
rs749180013
|
0.00001
|
|
NM_015346.4(ZFYVE26):c.*1020A>G
|
rs183946991
|
0.00001
|
|
NM_015346.4(ZFYVE26):c.*139A>G
|
rs554425372
|
0.00001
|
|
NM_015346.4(ZFYVE26):c.*1694C>A
|
rs559412879
|
0.00001
|
|
NM_015346.4(ZFYVE26):c.*493G>C
|
rs894562166
|
0.00001
|
|
NM_015346.4(ZFYVE26):c.1017+1G>T
|
rs1224762841
|
0.00001
|
|
NM_015346.4(ZFYVE26):c.1159C>T (p.Leu387Phe)
|
rs76738736
|
0.00001
|
|
NM_015346.4(ZFYVE26):c.1161C>G (p.Leu387=)
|
rs60184489
|
0.00001
|
|
NM_015346.4(ZFYVE26):c.1272-10T>C
|
rs773153713
|
0.00001
|
|
NM_015346.4(ZFYVE26):c.1378G>A (p.Glu460Lys)
|
rs764112580
|
0.00001
|
|
NM_015346.4(ZFYVE26):c.1399C>G (p.Gln467Glu)
|
rs373177554
|
0.00001
|
|
NM_015346.4(ZFYVE26):c.1651C>G (p.Leu551Val)
|
rs886050658
|
0.00001
|
|
NM_015346.4(ZFYVE26):c.2182C>T (p.Arg728Ter)
|
rs981804211
|
0.00001
|
|
NM_015346.4(ZFYVE26):c.2183G>A (p.Arg728Gln)
|
rs770927853
|
0.00001
|
|
NM_015346.4(ZFYVE26):c.2333-1G>C
|
rs746606852
|
0.00001
|
|
NM_015346.4(ZFYVE26):c.2420T>C (p.Met807Thr)
|
rs757561899
|
0.00001
|
|
NM_015346.4(ZFYVE26):c.2548C>T (p.His850Tyr)
|
rs1223858681
|
0.00001
|
|
NM_015346.4(ZFYVE26):c.2680G>A (p.Ala894Thr)
|
rs149203489
|
0.00001
|
|
NM_015346.4(ZFYVE26):c.273+8G>A
|
rs750522064
|
0.00001
|
|
NM_015346.4(ZFYVE26):c.2756-6G>A
|
rs750576685
|
0.00001
|
|
NM_015346.4(ZFYVE26):c.2777C>G (p.Ser926Cys)
|
rs769154501
|
0.00001
|
|
NM_015346.4(ZFYVE26):c.2980A>G (p.Thr994Ala)
|
rs1199967285
|
0.00001
|
|
NM_015346.4(ZFYVE26):c.3020-2A>G
|
rs1470672632
|
0.00001
|
|
NM_015346.4(ZFYVE26):c.3259C>G (p.Leu1087Val)
|
rs1279334070
|
0.00001
|
|
NM_015346.4(ZFYVE26):c.3382C>T (p.Gln1128Ter)
|
rs988442865
|
0.00001
|
|
NM_015346.4(ZFYVE26):c.35C>T (p.Ser12Leu)
|
rs200174594
|
0.00001
|
|
NM_015346.4(ZFYVE26):c.364-12T>C
|
rs757340973
|
0.00001
|
|
NM_015346.4(ZFYVE26):c.3652A>C (p.Asn1218His)
|
rs1306939952
|
0.00001
|
|
NM_015346.4(ZFYVE26):c.4089_4091del (p.Pro1364del)
|
rs1487236153
|
0.00001
|
|
NM_015346.4(ZFYVE26):c.4114_4115insGAAGGGC (p.Ala1372fs)
|
rs950356390
|
0.00001
|
|
NM_015346.4(ZFYVE26):c.4181G>A (p.Trp1394Ter)
|
rs370828455
|
0.00001
|
|
NM_015346.4(ZFYVE26):c.4203C>T (p.Leu1401=)
|
rs941752233
|
0.00001
|
|
NM_015346.4(ZFYVE26):c.4336A>G (p.Ile1446Val)
|
rs773755777
|
0.00001
|
|
NM_015346.4(ZFYVE26):c.4452G>C (p.Arg1484Ser)
|
rs368241137
|
0.00001
|
|
NM_015346.4(ZFYVE26):c.4663C>T (p.Leu1555=)
|
rs2039462773
|
0.00001
|
|
NM_015346.4(ZFYVE26):c.4855G>A (p.Asp1619Asn)
|
rs566223708
|
0.00001
|
|
NM_015346.4(ZFYVE26):c.4943G>A (p.Arg1648His)
|
rs1358427099
|
0.00001
|
|
NM_015346.4(ZFYVE26):c.5715del (p.Asp1906fs)
|
rs868672014
|
0.00001
|
|
NM_015346.4(ZFYVE26):c.5791-3C>T
|
rs1334379838
|
0.00001
|
|
NM_015346.4(ZFYVE26):c.5798G>C (p.Ser1933Thr)
|
rs769794304
|
0.00001
|
|
NM_015346.4(ZFYVE26):c.5981G>A (p.Gly1994Asp)
|
rs1359433577
|
0.00001
|
|
NM_015346.4(ZFYVE26):c.6141C>A (p.Tyr2047Ter)
|
rs1006249036
|
0.00001
|
|
NM_015346.4(ZFYVE26):c.6144C>A (p.Tyr2048Ter)
|
rs756042888
|
0.00001
|
|
NM_015346.4(ZFYVE26):c.6261T>G (p.Ser2087Arg)
|
rs762604883
|
0.00001
|
|
NM_015346.4(ZFYVE26):c.6278dup (p.Phe2094fs)
|
rs755756797
|
0.00001
|
|
NM_015346.4(ZFYVE26):c.6296dup (p.Asn2100fs)
|
rs1555394376
|
0.00001
|
|
NM_015346.4(ZFYVE26):c.6757A>G (p.Ile2253Val)
|
rs202150854
|
0.00001
|
|
NM_015346.4(ZFYVE26):c.7128+2T>A
|
rs1049504575
|
0.00001
|
|
NM_015346.4(ZFYVE26):c.7248A>G (p.Lys2416=)
|
rs886050652
|
0.00001
|
|
NM_015346.4(ZFYVE26):c.7411A>G (p.Asn2471Asp)
|
rs868606135
|
0.00001
|
|
NM_015346.4(ZFYVE26):c.7413C>T (p.Asn2471=)
|
rs769245111
|
0.00001
|
|
NM_015346.4(ZFYVE26):c.7504C>T (p.Gln2502Ter)
|
rs1555392776
|
0.00001
|
|
NM_015346.4(ZFYVE26):c.81A>T (p.Gly27=)
|
rs201633671
|
0.00001
|
|
NM_015346.4(ZFYVE26):c.956C>T (p.Ala319Val)
|
rs765552636
|
0.00001
|
|
NM_015375.3(DSTYK):c.609T>G (p.His203Gln)
|
rs748982270
|
0.00001
|
|
NM_015915.5(ATL1):c.*109A>C
|
rs564345741
|
0.00001
|
|
NM_015915.5(ATL1):c.*528A>C
|
rs886050534
|
0.00001
|
|
NM_015915.5(ATL1):c.1047+18G>A
|
rs746881198
|
0.00001
|
|
NM_015915.5(ATL1):c.115A>G (p.Ile39Val)
|
rs756464141
|
0.00001
|
|
NM_015915.5(ATL1):c.1191A>C (p.Glu397Asp)
|
rs781773446
|
0.00001
|
|
NM_015915.5(ATL1):c.1246C>T (p.Arg416Cys)
|
rs387906941
|
0.00001
|
|
NM_015915.5(ATL1):c.1247G>A (p.Arg416His)
|
rs1395551564
|
0.00001
|
|
NM_015915.5(ATL1):c.1295A>G (p.Tyr432Cys)
|
rs757055842
|
0.00001
|
|
NM_015915.5(ATL1):c.1308T>C (p.Asn436=)
|
rs751796325
|
0.00001
|
|
NM_015915.5(ATL1):c.1332A>C (p.Ala444=)
|
rs778318620
|
0.00001
|
|
NM_015915.5(ATL1):c.1360G>C (p.Val454Leu)
|
rs370748757
|
0.00001
|
|
NM_015915.5(ATL1):c.1377T>C (p.Tyr459=)
|
rs775045809
|
0.00001
|
|
NM_015915.5(ATL1):c.1414A>G (p.Ile472Val)
|
rs374047535
|
0.00001
|
|
NM_015915.5(ATL1):c.1483C>T (p.Arg495Trp)
|
rs864622269
|
0.00001
|
|
NM_015915.5(ATL1):c.1501C>G (p.Arg501Gly)
|
rs1316385532
|
0.00001
|
|
NM_015915.5(ATL1):c.1502G>A (p.Arg501Gln)
|
rs374795927
|
0.00001
|
|
NM_015915.5(ATL1):c.1551+9A>G
|
rs765253669
|
0.00001
|
|
NM_015915.5(ATL1):c.1623T>G (p.Ala541=)
|
rs777479928
|
0.00001
|
|
NM_015915.5(ATL1):c.1640C>T (p.Ser547Leu)
|
rs778692077
|
0.00001
|
|
NM_015915.5(ATL1):c.1641G>A (p.Ser547=)
|
rs761099386
|
0.00001
|
|
NM_015915.5(ATL1):c.282+4T>C
|
rs1337325727
|
0.00001
|
|
NM_015915.5(ATL1):c.300T>G (p.Val100=)
|
rs863224772
|
0.00001
|
|
NM_015915.5(ATL1):c.34+4A>G
|
rs184968459
|
0.00001
|
|
NM_015915.5(ATL1):c.46G>C (p.Glu16Gln)
|
rs1223717112
|
0.00001
|
|
NM_015915.5(ATL1):c.483C>T (p.Ala161=)
|
rs370173293
|
0.00001
|
|
NM_015915.5(ATL1):c.523-13T>C
|
rs778508132
|
0.00001
|
|
NM_015915.5(ATL1):c.544G>A (p.Val182Ile)
|
rs755214274
|
0.00001
|
|
NM_015915.5(ATL1):c.598G>A (p.Ala200Thr)
|
rs1459900918
|
0.00001
|
|
NM_015915.5(ATL1):c.630+20T>C
|
rs768171356
|
0.00001
|
|
NM_015915.5(ATL1):c.630+3G>A
|
rs746263796
|
0.00001
|
|
NM_015915.5(ATL1):c.670G>A (p.Glu224Lys)
|
rs976793999
|
0.00001
|
|
NM_015915.5(ATL1):c.699C>T (p.Ala233=)
|
rs1347858003
|
0.00001
|
|
NM_015915.5(ATL1):c.769A>G (p.Ile257Val)
|
rs1186954818
|
0.00001
|
|
NM_015915.5(ATL1):c.873T>C (p.Asp291=)
|
rs1302048030
|
0.00001
|
|
NM_015915.5(ATL1):c.921C>T (p.Pro307=)
|
rs535790981
|
0.00001
|
|
NM_015915.5(ATL1):c.922G>A (p.Glu308Lys)
|
rs773401705
|
0.00001
|
|
NM_015915.5(ATL1):c.927C>T (p.Ser309=)
|
rs2039459083
|
0.00001
|
|
NM_015915.5(ATL1):c.953A>T (p.Asn318Ile)
|
rs770538531
|
0.00001
|
|
NM_015915.5(ATL1):c.997A>G (p.Ile333Val)
|
rs749993404
|
0.00001
|
|
NM_016630.7(SPG21):c.*47T>C
|
rs774586238
|
0.00001
|
|
NM_016630.7(SPG21):c.102C>G (p.Leu34=)
|
rs763037150
|
0.00001
|
|
NM_016630.7(SPG21):c.119dup (p.Ser41fs)
|
rs1332886505
|
0.00001
|
|
NM_016630.7(SPG21):c.190T>C (p.Leu64=)
|
rs1371854589
|
0.00001
|
|
NM_016630.7(SPG21):c.1A>G (p.Met1Val)
|
rs1346623214
|
0.00001
|
|
NM_016630.7(SPG21):c.390C>T (p.Ser130=)
|
rs1170624847
|
0.00001
|
|
NM_016630.7(SPG21):c.404A>G (p.Asn135Ser)
|
rs374212037
|
0.00001
|
|
NM_016630.7(SPG21):c.452+2dup
|
rs752973737
|
0.00001
|
|
NM_016630.7(SPG21):c.453-3C>T
|
rs958910728
|
0.00001
|
|
NM_016630.7(SPG21):c.516G>A (p.Pro172=)
|
rs774744618
|
0.00001
|
|
NM_016630.7(SPG21):c.526A>G (p.Met176Val)
|
rs786204161
|
0.00001
|
|
NM_016630.7(SPG21):c.569G>A (p.Ser190Asn)
|
rs899108970
|
0.00001
|
|
NM_016630.7(SPG21):c.597A>G (p.Arg199=)
|
rs1246614782
|
0.00001
|
|
NM_016630.7(SPG21):c.601dup (p.Thr201fs)
|
rs387906275
|
0.00001
|
|
NM_016630.7(SPG21):c.676G>C (p.Asp226His)
|
rs1362786999
|
0.00001
|
|
NM_016630.7(SPG21):c.736C>T (p.Arg246Ter)
|
rs369957508
|
0.00001
|
|
NM_016630.7(SPG21):c.810+3A>G
|
rs751245316
|
0.00001
|
|
NM_020435.4(GJC2):c.1209C>T (p.Val403=)
|
rs754261952
|
0.00001
|
|
NM_020435.4(GJC2):c.300C>A (p.His100Gln)
|
rs372240320
|
0.00001
|
|
NM_020533.3(MCOLN1):c.1458C>A (p.Arg486=)
|
rs1453967813
|
0.00001
|
|
NM_020738.4(KIDINS220):c.1012C>T (p.Pro338Ser)
|
rs1461764281
|
0.00001
|
|
NM_020738.4(KIDINS220):c.2702G>A (p.Arg901Gln)
|
rs755319483
|
0.00001
|
|
NM_020738.4(KIDINS220):c.3955T>C (p.Ser1319Pro)
|
rs1310173085
|
0.00001
|
|
NM_020738.4(KIDINS220):c.4889A>G (p.His1630Arg)
|
rs569904858
|
0.00001
|
|
NM_020738.4(KIDINS220):c.746C>T (p.Thr249Met)
|
rs771589853
|
0.00001
|
|
NM_020771.4(HACE1):c.1396C>T (p.Gln466Ter)
|
rs1337798545
|
0.00001
|
|
NM_020771.4(HACE1):c.1990C>T (p.Arg664Ter)
|
rs761703540
|
0.00001
|
|
NM_020771.4(HACE1):c.655C>T (p.Arg219Ter)
|
rs869025280
|
0.00001
|
|
NM_020771.4(HACE1):c.805C>T (p.Arg269Ter)
|
rs750371878
|
0.00001
|
|
NM_020919.4(ALS2):c.1403T>C (p.Val468Ala)
|
rs751794543
|
0.00001
|
|
NM_020919.4(ALS2):c.2909G>T (p.Gly970Val)
|
rs375742430
|
0.00001
|
|
NM_020919.4(ALS2):c.2912+8C>T
|
rs528131651
|
0.00001
|
|
NM_020919.4(ALS2):c.3703-7T>C
|
rs201333167
|
0.00001
|
|
NM_020919.4(ALS2):c.4022G>A (p.Arg1341His)
|
rs761291489
|
0.00001
|
|
NM_020919.4(ALS2):c.4820A>T (p.Tyr1607Phe)
|
rs370296035
|
0.00001
|
|
NM_020919.4(ALS2):c.853A>G (p.Arg285Gly)
|
rs778865969
|
0.00001
|
|
NM_020944.3(GBA2):c.1018C>T (p.Arg340Ter)
|
rs398123014
|
0.00001
|
|
NM_020944.3(GBA2):c.1030G>C (p.Ala344Pro)
|
rs750984776
|
0.00001
|
|
NM_020944.3(GBA2):c.1285C>T (p.Arg429Trp)
|
rs748661440
|
0.00001
|
|
NM_020944.3(GBA2):c.1428C>T (p.Tyr476=)
|
rs781075990
|
0.00001
|
|
NM_020944.3(GBA2):c.1582+2T>G
|
rs941656065
|
0.00001
|
|
NM_020944.3(GBA2):c.2202del (p.Tyr735fs)
|
rs1448182827
|
0.00001
|
|
NM_020944.3(GBA2):c.2699G>A (p.Trp900Ter)
|
rs767031907
|
0.00001
|
|
NM_020944.3(GBA2):c.341A>G (p.His114Arg)
|
rs1247383766
|
0.00001
|
|
NM_020944.3(GBA2):c.490C>T (p.Arg164Cys)
|
rs867545153
|
0.00001
|
|
NM_020944.3(GBA2):c.700C>T (p.Arg234Ter)
|
rs398123013
|
0.00001
|
|
NM_020944.3(GBA2):c.704C>G (p.Ala235Gly)
|
rs1387168151
|
0.00001
|
|
NM_021160.3(ABHD16A):c.1370G>A (p.Arg457Gln)
|
rs774259910
|
0.00001
|
|
NM_021830.5(TWNK):c.1069C>T (p.Arg357Cys)
|
rs1198520632
|
0.00001
|
|
NM_021830.5(TWNK):c.1466A>G (p.His489Arg)
|
rs765275995
|
0.00001
|
|
NM_021830.5(TWNK):c.286G>A (p.Val96Ile)
|
rs1339977334
|
0.00001
|
|
NM_022089.4(ATP13A2):c.-99G>C
|
rs569658051
|
0.00001
|
|
NM_022089.4(ATP13A2):c.1004C>T (p.Ala335Val)
|
rs756767909
|
0.00001
|
|
NM_022089.4(ATP13A2):c.1017G>C (p.Met339Ile)
|
rs1345269003
|
0.00001
|
|
NM_022089.4(ATP13A2):c.1102A>G (p.Thr368Ala)
|
rs1236275703
|
0.00001
|
|
NM_022089.4(ATP13A2):c.1103C>T (p.Thr368Ile)
|
rs1033088325
|
0.00001
|
|
NM_022089.4(ATP13A2):c.1109G>A (p.Arg370Gln)
|
rs369738172
|
0.00001
|
|
NM_022089.4(ATP13A2):c.111C>T (p.Leu37=)
|
rs1331180219
|
0.00001
|
|
NM_022089.4(ATP13A2):c.1167G>A (p.Pro389=)
|
rs776283025
|
0.00001
|
|
NM_022089.4(ATP13A2):c.1169A>C (p.His390Pro)
|
rs376004873
|
0.00001
|
|
NM_022089.4(ATP13A2):c.1170C>T (p.His390=)
|
rs201661480
|
0.00001
|
|
NM_022089.4(ATP13A2):c.1195+18G>C
|
rs750278758
|
0.00001
|
|
NM_022089.4(ATP13A2):c.1233C>A (p.Ile411=)
|
rs748487085
|
0.00001
|
|
NM_022089.4(ATP13A2):c.1234T>C (p.Leu412=)
|
rs2077128030
|
0.00001
|
|
NM_022089.4(ATP13A2):c.1295T>C (p.Leu432Pro)
|
rs778964823
|
0.00001
|
|
NM_022089.4(ATP13A2):c.1296C>T (p.Leu432=)
|
rs1196631888
|
0.00001
|
|
NM_022089.4(ATP13A2):c.1307-13G>A
|
rs754572673
|
0.00001
|
|
NM_022089.4(ATP13A2):c.1314C>A (p.Leu438=)
|
rs764435162
|
0.00001
|
|
NM_022089.4(ATP13A2):c.1345C>T (p.Arg449Ter)
|
rs1057519293
|
0.00001
|
|
NM_022089.4(ATP13A2):c.1377C>T (p.Ile459=)
|
rs1570823082
|
0.00001
|
|
NM_022089.4(ATP13A2):c.1384C>G (p.Leu462Val)
|
rs773341880
|
0.00001
|
|
NM_022089.4(ATP13A2):c.1405G>A (p.Val469Met)
|
rs1326057817
|
0.00001
|
|
NM_022089.4(ATP13A2):c.1420C>G (p.Pro474Ala)
|
rs530658980
|
0.00001
|
|
NM_022089.4(ATP13A2):c.1437G>A (p.Val479=)
|
rs367695021
|
0.00001
|
|
NM_022089.4(ATP13A2):c.1459C>T (p.Arg487Ter)
|
rs1303653650
|
0.00001
|
|
NM_022089.4(ATP13A2):c.1460G>A (p.Arg487Gln)
|
rs560095049
|
0.00001
|
|
NM_022089.4(ATP13A2):c.1465C>T (p.Arg489Trp)
|
rs753825215
|
0.00001
|
|
NM_022089.4(ATP13A2):c.146G>T (p.Gly49Val)
|
rs372254666
|
0.00001
|
|
NM_022089.4(ATP13A2):c.1543-15_1543-12del
|
rs753702273
|
0.00001
|
|
NM_022089.4(ATP13A2):c.1544C>T (p.Thr515Met)
|
rs984178348
|
0.00001
|
|
NM_022089.4(ATP13A2):c.1563C>T (p.Asp521=)
|
rs777948791
|
0.00001
|
|
NM_022089.4(ATP13A2):c.1631G>A (p.Arg544His)
|
rs1050384310
|
0.00001
|
|
NM_022089.4(ATP13A2):c.1657C>T (p.Arg553Ter)
|
rs1264582344
|
0.00001
|
|
NM_022089.4(ATP13A2):c.1663C>T (p.Leu555=)
|
rs1208562568
|
0.00001
|
|
NM_022089.4(ATP13A2):c.1710C>T (p.Gly570=)
|
rs1049938065
|
0.00001
|
|
NM_022089.4(ATP13A2):c.1744G>A (p.Gly582Ser)
|
rs886045581
|
0.00001
|
|
NM_022089.4(ATP13A2):c.1750-3C>T
|
rs780246274
|
0.00001
|
|
NM_022089.4(ATP13A2):c.1755G>A (p.Leu585=)
|
rs200184146
|
0.00001
|
|
NM_022089.4(ATP13A2):c.1774G>A (p.Asp592Asn)
|
rs750921184
|
0.00001
|
|
NM_022089.4(ATP13A2):c.1787G>C (p.Gly596Ala)
|
rs975811918
|
0.00001
|
|
NM_022089.4(ATP13A2):c.1845+15G>A
|
rs750975658
|
0.00001
|
|
NM_022089.4(ATP13A2):c.1845+1G>A
|
rs2076970587
|
0.00001
|
|
NM_022089.4(ATP13A2):c.1856C>T (p.Pro619Leu)
|
rs746563424
|
0.00001
|
|
NM_022089.4(ATP13A2):c.1857G>A (p.Pro619=)
|
rs1187762774
|
0.00001
|
|
NM_022089.4(ATP13A2):c.1864G>T (p.Val622Phe)
|
rs779367060
|
0.00001
|
|
NM_022089.4(ATP13A2):c.1869C>T (p.Ser623=)
|
rs757800272
|
0.00001
|
|
NM_022089.4(ATP13A2):c.1870G>A (p.Val624Ile)
|
rs368423685
|
0.00001
|
|
NM_022089.4(ATP13A2):c.1876C>T (p.His626Tyr)
|
rs778267471
|
0.00001
|
|
NM_022089.4(ATP13A2):c.1897G>T (p.Ala633Ser)
|
rs766354139
|
0.00001
|
|
NM_022089.4(ATP13A2):c.1907G>A (p.Arg636His)
|
rs769622260
|
0.00001
|
|
NM_022089.4(ATP13A2):c.1951G>A (p.Ala651Thr)
|
rs778404620
|
0.00001
|
|
NM_022089.4(ATP13A2):c.1957G>A (p.Val653Ile)
|
rs761490954
|
0.00001
|
|
NM_022089.4(ATP13A2):c.2013C>T (p.Thr671=)
|
rs1176219513
|
0.00001
|
|
NM_022089.4(ATP13A2):c.2015A>G (p.Asp672Gly)
|
rs981910553
|
0.00001
|
|
NM_022089.4(ATP13A2):c.2049T>C (p.Ala683=)
|
rs769153783
|
0.00001
|
|
NM_022089.4(ATP13A2):c.2061C>T (p.Val687=)
|
rs370622481
|
0.00001
|
|
NM_022089.4(ATP13A2):c.2083C>T (p.Leu695=)
|
rs757300078
|
0.00001
|
|
NM_022089.4(ATP13A2):c.208C>T (p.Leu70=)
|
rs757911860
|
0.00001
|
|
NM_022089.4(ATP13A2):c.2116C>T (p.Gln706Ter)
|
rs2076949269
|
0.00001
|
|
NM_022089.4(ATP13A2):c.2119C>T (p.Leu707=)
|
rs762570626
|
0.00001
|
|
NM_022089.4(ATP13A2):c.2133T>C (p.Thr711=)
|
rs751346349
|
0.00001
|
|
NM_022089.4(ATP13A2):c.2158G>T (p.Gly720Trp)
|
rs865939676
|
0.00001
|
|
NM_022089.4(ATP13A2):c.2199G>A (p.Thr733=)
|
rs1269645931
|
0.00001
|
|
NM_022089.4(ATP13A2):c.219G>A (p.Val73=)
|
rs1469953920
|
0.00001
|
|
NM_022089.4(ATP13A2):c.2221A>C (p.Arg741=)
|
rs754926284
|
0.00001
|
|
NM_022089.4(ATP13A2):c.2252-11A>G
|
rs775547036
|
0.00001
|
|
NM_022089.4(ATP13A2):c.226C>T (p.Arg76Trp)
|
rs751715295
|
0.00001
|
|
NM_022089.4(ATP13A2):c.2270C>T (p.Ala757Val)
|
rs1208175914
|
0.00001
|
|
NM_022089.4(ATP13A2):c.229C>T (p.Leu77Phe)
|
rs763004392
|
0.00001
|
|
NM_022089.4(ATP13A2):c.2332G>A (p.Ala778Thr)
|
rs748986186
|
0.00001
|
|
NM_022089.4(ATP13A2):c.2340C>T (p.His780=)
|
rs769392537
|
0.00001
|
|
NM_022089.4(ATP13A2):c.2381T>C (p.Met794Thr)
|
rs151222153
|
0.00001
|
|
NM_022089.4(ATP13A2):c.2397C>T (p.Ala799=)
|
rs772920644
|
0.00001
|
|
NM_022089.4(ATP13A2):c.2422C>G (p.Gln808Glu)
|
rs774997717
|
0.00001
|
|
NM_022089.4(ATP13A2):c.2455C>T (p.Arg819Ter)
|
rs866035312
|
0.00001
|
|
NM_022089.4(ATP13A2):c.2456G>A (p.Arg819Gln)
|
rs781298587
|
0.00001
|
|
NM_022089.4(ATP13A2):c.2479G>A (p.Gly827Arg)
|
rs765064192
|
0.00001
|
|
NM_022089.4(ATP13A2):c.24C>T (p.Leu8=)
|
rs1460426486
|
0.00001
|
|
NM_022089.4(ATP13A2):c.2525C>G (p.Pro842Arg)
|
rs917176878
|
0.00001
|
|
NM_022089.4(ATP13A2):c.2529+1G>A
|
rs776448394
|
0.00001
|
|
NM_022089.4(ATP13A2):c.2591G>T (p.Cys864Phe)
|
rs1281682323
|
0.00001
|
|
NM_022089.4(ATP13A2):c.2609+10C>T
|
rs759204814
|
0.00001
|
|
NM_022089.4(ATP13A2):c.2628C>T (p.Cys876=)
|
rs561561604
|
0.00001
|
|
NM_022089.4(ATP13A2):c.2635G>A (p.Gly879Ser)
|
rs771014262
|
0.00001
|
|
NM_022089.4(ATP13A2):c.264C>T (p.Leu88=)
|
rs554781874
|
0.00001
|
|
NM_022089.4(ATP13A2):c.2673C>T (p.Val891=)
|
rs764639673
|
0.00001
|
|
NM_022089.4(ATP13A2):c.2820C>T (p.Tyr940=)
|
rs765560804
|
0.00001
|
|
NM_022089.4(ATP13A2):c.2859+5G>C
|
rs1164759435
|
0.00001
|
|
NM_022089.4(ATP13A2):c.2867C>T (p.Thr956Ile)
|
rs752784549
|
0.00001
|
|
NM_022089.4(ATP13A2):c.288+16A>T
|
rs1385104135
|
0.00001
|
|
NM_022089.4(ATP13A2):c.2905G>A (p.Val969Ile)
|
rs769445714
|
0.00001
|
|
NM_022089.4(ATP13A2):c.2919A>G (p.Thr973=)
|
rs149403933
|
0.00001
|
|
NM_022089.4(ATP13A2):c.2939G>A (p.Arg980His)
|
rs150748722
|
0.00001
|
|
NM_022089.4(ATP13A2):c.2943G>A (p.Thr981=)
|
rs746372968
|
0.00001
|
|
NM_022089.4(ATP13A2):c.2995G>A (p.Val999Met)
|
rs764162255
|
0.00001
|
|
NM_022089.4(ATP13A2):c.3000C>T (p.Pro1000=)
|
rs1260261642
|
0.00001
|
|
NM_022089.4(ATP13A2):c.3081A>G (p.Pro1027=)
|
rs374690625
|
0.00001
|
|
NM_022089.4(ATP13A2):c.3145G>A (p.Val1049Met)
|
rs750963832
|
0.00001
|
|
NM_022089.4(ATP13A2):c.3164G>C (p.Ser1055Thr)
|
rs1046254851
|
0.00001
|
|
NM_022089.4(ATP13A2):c.3174C>T (p.Tyr1058=)
|
rs777045615
|
0.00001
|
|
NM_022089.4(ATP13A2):c.3175C>T (p.Leu1059Phe)
|
rs764410859
|
0.00001
|
|
NM_022089.4(ATP13A2):c.3235+15G>A
|
rs761031832
|
0.00001
|
|
NM_022089.4(ATP13A2):c.334A>G (p.Ile112Val)
|
rs747340052
|
0.00001
|
|
NM_022089.4(ATP13A2):c.3356T>G (p.Leu1119Arg)
|
rs375453342
|
0.00001
|
|
NM_022089.4(ATP13A2):c.340G>A (p.Glu114Lys)
|
rs757224113
|
0.00001
|
|
NM_022089.4(ATP13A2):c.3434G>A (p.Cys1145Tyr)
|
rs756071133
|
0.00001
|
|
NM_022089.4(ATP13A2):c.3440G>A (p.Arg1147His)
|
rs971337693
|
0.00001
|
|
NM_022089.4(ATP13A2):c.3538A>T (p.Arg1180Trp)
|
rs774920921
|
0.00001
|
|
NM_022089.4(ATP13A2):c.385C>T (p.Arg129Trp)
|
rs1318096890
|
0.00001
|
|
NM_022089.4(ATP13A2):c.386G>A (p.Arg129Gln)
|
rs762570832
|
0.00001
|
|
NM_022089.4(ATP13A2):c.39C>T (p.Pro13=)
|
rs752127537
|
0.00001
|
|
NM_022089.4(ATP13A2):c.423C>T (p.Ala141=)
|
rs1258288001
|
0.00001
|
|
NM_022089.4(ATP13A2):c.429G>A (p.Lys143=)
|
rs1391689725
|
0.00001
|
|
NM_022089.4(ATP13A2):c.435G>A (p.Thr145=)
|
rs201154350
|
0.00001
|
|
NM_022089.4(ATP13A2):c.464T>G (p.Val155Gly)
|
rs1333931944
|
0.00001
|
|
NM_022089.4(ATP13A2):c.471C>T (p.Val157=)
|
rs762608323
|
0.00001
|
|
NM_022089.4(ATP13A2):c.509G>T (p.Gly170Val)
|
rs1369312171
|
0.00001
|
|
NM_022089.4(ATP13A2):c.529G>A (p.Glu177Lys)
|
rs1323958366
|
0.00001
|
|
NM_022089.4(ATP13A2):c.59C>T (p.Thr20Met)
|
rs773699589
|
0.00001
|
|
NM_022089.4(ATP13A2):c.635+19C>T
|
rs746266493
|
0.00001
|
|
NM_022089.4(ATP13A2):c.636-7C>T
|
rs762753391
|
0.00001
|
|
NM_022089.4(ATP13A2):c.648C>T (p.Tyr216=)
|
rs769405638
|
0.00001
|
|
NM_022089.4(ATP13A2):c.668T>C (p.Ile223Thr)
|
rs771489150
|
0.00001
|
|
NM_022089.4(ATP13A2):c.69A>G (p.Thr23=)
|
rs1196381069
|
0.00001
|
|
NM_022089.4(ATP13A2):c.706-4C>A
|
rs2077315863
|
0.00001
|
|
NM_022089.4(ATP13A2):c.723T>C (p.Tyr241=)
|
rs1373279122
|
0.00001
|
|
NM_022089.4(ATP13A2):c.769T>C (p.Tyr257His)
|
rs370403918
|
0.00001
|
|
NM_022089.4(ATP13A2):c.786C>T (p.Cys262=)
|
rs1237741171
|
0.00001
|
|
NM_022089.4(ATP13A2):c.816C>G (p.Cys272Trp)
|
rs755969305
|
0.00001
|
|
NM_022089.4(ATP13A2):c.846C>T (p.Ser282=)
|
rs762440899
|
0.00001
|
|
NM_024306.5(FA2H):c.*1074G>A
|
rs896037051
|
0.00001
|
|
NM_024306.5(FA2H):c.*253A>G
|
rs886052289
|
0.00001
|
|
NM_024306.5(FA2H):c.*652C>T
|
rs886052287
|
0.00001
|
|
NM_024306.5(FA2H):c.*772C>A
|
rs886052286
|
0.00001
|
|
NM_024306.5(FA2H):c.190G>T (p.Gly64Trp)
|
rs1410690526
|
0.00001
|
|
NM_024306.5(FA2H):c.379C>T (p.Arg127Ter)
|
rs1210045384
|
0.00001
|
|
NM_024306.5(FA2H):c.460C>T (p.Arg154Cys)
|
rs387907040
|
0.00001
|
|
NM_024306.5(FA2H):c.549C>T (p.Leu183=)
|
rs767690383
|
0.00001
|
|
NM_024306.5(FA2H):c.589C>T (p.Arg197Ter)
|
rs1463651673
|
0.00001
|
|
NM_024306.5(FA2H):c.600G>A (p.Thr200=)
|
rs774718977
|
0.00001
|
|
NM_024306.5(FA2H):c.649G>A (p.Gly217Arg)
|
rs775750642
|
0.00001
|
|
NM_024306.5(FA2H):c.691T>C (p.Tyr231His)
|
rs878855081
|
0.00001
|
|
NM_024306.5(FA2H):c.699C>T (p.Ile233=)
|
rs906411491
|
0.00001
|
|
NM_024306.5(FA2H):c.703C>T (p.Arg235Cys)
|
rs387907039
|
0.00001
|
|
NM_024306.5(FA2H):c.806G>A (p.Arg269His)
|
rs1429546236
|
0.00001
|
|
NM_024306.5(FA2H):c.965C>T (p.Ser322Leu)
|
rs373010581
|
0.00001
|
|
NM_024989.4(PGAP1):c.-5G>C
|
rs983042203
|
0.00001
|
|
NM_024989.4(PGAP1):c.1352T>A (p.Phe451Tyr)
|
rs780043187
|
0.00001
|
|
NM_024989.4(PGAP1):c.2388C>T (p.Asp796=)
|
rs768328398
|
0.00001
|
|
NM_024989.4(PGAP1):c.2393C>T (p.Ser798Leu)
|
rs1051067702
|
0.00001
|
|
NM_024989.4(PGAP1):c.2526-7A>G
|
rs1484939132
|
0.00001
|
|
NM_024989.4(PGAP1):c.585T>C (p.Asn195=)
|
rs1038323136
|
0.00001
|
|
NM_024989.4(PGAP1):c.636T>C (p.Asp212=)
|
rs1337628147
|
0.00001
|
|
NM_025137.4(SPG11):c.*388A>C
|
rs1055703962
|
0.00001
|
|
NM_025137.4(SPG11):c.1008-20A>G
|
rs767487177
|
0.00001
|
|
NM_025137.4(SPG11):c.1026A>G (p.Leu342=)
|
rs1008060327
|
0.00001
|
|
NM_025137.4(SPG11):c.1031C>T (p.Ser344Leu)
|
rs776948550
|
0.00001
|
|
NM_025137.4(SPG11):c.1045A>G (p.Ile349Val)
|
rs889642538
|
0.00001
|
|
NM_025137.4(SPG11):c.1080T>C (p.Ala360=)
|
rs775781498
|
0.00001
|
|
NM_025137.4(SPG11):c.1103A>G (p.His368Arg)
|
rs151226459
|
0.00001
|
|
NM_025137.4(SPG11):c.114G>A (p.Met38Ile)
|
rs886051185
|
0.00001
|
|
NM_025137.4(SPG11):c.1179T>C (p.His393=)
|
rs751415874
|
0.00001
|
|
NM_025137.4(SPG11):c.1207C>T (p.His403Tyr)
|
rs1331463203
|
0.00001
|
|
NM_025137.4(SPG11):c.1255A>G (p.Ser419Gly)
|
rs747719668
|
0.00001
|
|
NM_025137.4(SPG11):c.1266G>A (p.Glu422=)
|
rs747797205
|
0.00001
|
|
NM_025137.4(SPG11):c.126C>G (p.Gly42=)
|
rs769083561
|
0.00001
|
|
NM_025137.4(SPG11):c.1276G>A (p.Glu426Lys)
|
rs1158245810
|
0.00001
|
|
NM_025137.4(SPG11):c.130C>T (p.Arg44Trp)
|
rs1304995096
|
0.00001
|
|
NM_025137.4(SPG11):c.1324G>A (p.Glu442Lys)
|
rs1453401298
|
0.00001
|
|
NM_025137.4(SPG11):c.1383G>T (p.Gln461His)
|
rs932177370
|
0.00001
|
|
NM_025137.4(SPG11):c.1393C>T (p.Leu465Phe)
|
rs2084776558
|
0.00001
|
|
NM_025137.4(SPG11):c.1456+11del
|
rs1176011669
|
0.00001
|
|
NM_025137.4(SPG11):c.1456+8T>G
|
rs1368557409
|
0.00001
|
|
NM_025137.4(SPG11):c.1457-14T>C
|
rs747106932
|
0.00001
|
|
NM_025137.4(SPG11):c.1457-2A>G
|
rs312262726
|
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.1513C>T (p.Leu505Phe)
|
rs752258108
|
0.00001
|
|
NM_025137.4(SPG11):c.1526G>A (p.Gly509Glu)
|
rs1418238531
|
0.00001
|
|
NM_025137.4(SPG11):c.153G>A (p.Pro51=)
|
rs2085183451
|
0.00001
|
|
NM_025137.4(SPG11):c.1561A>G (p.Asn521Asp)
|
rs770720509
|
0.00001
|
|
NM_025137.4(SPG11):c.1575G>T (p.Arg525Ser)
|
rs1242845025
|
0.00001
|
|
NM_025137.4(SPG11):c.1589T>C (p.Ile530Thr)
|
rs779031089
|
0.00001
|
|
NM_025137.4(SPG11):c.159T>C (p.Ala53=)
|
rs1172849528
|
0.00001
|
|
NM_025137.4(SPG11):c.15A>T (p.Glu5Asp)
|
rs1444959753
|
0.00001
|
|
NM_025137.4(SPG11):c.1603-11C>T
|
rs2084149936
|
0.00001
|
|
NM_025137.4(SPG11):c.1618C>T (p.Arg540Cys)
|
rs758046989
|
0.00001
|
|
NM_025137.4(SPG11):c.1621C>T (p.Gln541Ter)
|
rs765061840
|
0.00001
|
|
NM_025137.4(SPG11):c.1632A>G (p.Thr544=)
|
rs368683333
|
0.00001
|
|
NM_025137.4(SPG11):c.1649A>G (p.Lys550Arg)
|
rs529146881
|
0.00001
|
|
NM_025137.4(SPG11):c.1667T>G (p.Phe556Cys)
|
rs375399685
|
0.00001
|
|
NM_025137.4(SPG11):c.1674A>G (p.Pro558=)
|
rs763315402
|
0.00001
|
|
NM_025137.4(SPG11):c.1681A>G (p.Lys561Glu)
|
rs1189064880
|
0.00001
|
|
NM_025137.4(SPG11):c.1753C>T (p.Pro585Ser)
|
rs863224795
|
0.00001
|
|
NM_025137.4(SPG11):c.1759T>G (p.Leu587Val)
|
rs1438765066
|
0.00001
|
|
NM_025137.4(SPG11):c.1763A>G (p.Asp588Gly)
|
rs763060505
|
0.00001
|
|
NM_025137.4(SPG11):c.1776G>A (p.Ser592=)
|
rs940988883
|
0.00001
|
|
NM_025137.4(SPG11):c.1777G>A (p.Ala593Thr)
|
rs971713077
|
0.00001
|
|
NM_025137.4(SPG11):c.177T>A (p.Ala59=)
|
rs750527049
|
0.00001
|
|
NM_025137.4(SPG11):c.1780A>G (p.Ile594Val)
|
rs762177930
|
0.00001
|
|
NM_025137.4(SPG11):c.179C>T (p.Ala60Val)
|
rs2085181882
|
0.00001
|
|
NM_025137.4(SPG11):c.180G>A (p.Ala60=)
|
rs765387108
|
0.00001
|
|
NM_025137.4(SPG11):c.1830G>C (p.Leu610Phe)
|
rs1269762029
|
0.00001
|
|
NM_025137.4(SPG11):c.1831C>T (p.Leu611Phe)
|
rs747979962
|
0.00001
|
|
NM_025137.4(SPG11):c.1871A>G (p.Glu624Gly)
|
rs1022198629
|
0.00001
|
|
NM_025137.4(SPG11):c.187C>G (p.Leu63Val)
|
rs754196423
|
0.00001
|
|
NM_025137.4(SPG11):c.1891+12A>G
|
rs149719736
|
0.00001
|
|
NM_025137.4(SPG11):c.1891+8T>C
|
rs370785527
|
0.00001
|
|
NM_025137.4(SPG11):c.191A>G (p.Gln64Arg)
|
rs1231166649
|
0.00001
|
|
NM_025137.4(SPG11):c.1930A>T (p.Thr644Ser)
|
rs776451921
|
0.00001
|
|
NM_025137.4(SPG11):c.1988A>G (p.Asp663Gly)
|
rs1369245036
|
0.00001
|
|
NM_025137.4(SPG11):c.2026A>C (p.Lys676Gln)
|
rs775487537
|
0.00001
|
|
NM_025137.4(SPG11):c.2027A>G (p.Lys676Arg)
|
rs771884916
|
0.00001
|
|
NM_025137.4(SPG11):c.2079C>T (p.Ala693=)
|
rs776740393
|
0.00001
|
|
NM_025137.4(SPG11):c.2129T>C (p.Ile710Thr)
|
rs368686728
|
0.00001
|
|
NM_025137.4(SPG11):c.2158G>A (p.Glu720Lys)
|
rs752347098
|
0.00001
|
|
NM_025137.4(SPG11):c.2199A>T (p.Leu733Phe)
|
rs370856739
|
0.00001
|
|
NM_025137.4(SPG11):c.2200A>G (p.Lys734Glu)
|
rs1381618021
|
0.00001
|
|
NM_025137.4(SPG11):c.2205G>A (p.Lys735=)
|
rs747102973
|
0.00001
|
|
NM_025137.4(SPG11):c.2206A>G (p.Asn736Asp)
|
rs775711520
|
0.00001
|
|
NM_025137.4(SPG11):c.2234T>G (p.Leu745Trp)
|
rs1448574986
|
0.00001
|
|
NM_025137.4(SPG11):c.2305C>T (p.Arg769Cys)
|
rs758119635
|
0.00001
|
|
NM_025137.4(SPG11):c.230G>A (p.Arg77His)
|
rs1160672319
|
0.00001
|
|
NM_025137.4(SPG11):c.2316+1G>A
|
rs312262740
|
0.00001
|
|
NM_025137.4(SPG11):c.2317G>A (p.Val773Ile)
|
rs766696581
|
0.00001
|
|
NM_025137.4(SPG11):c.2321A>C (p.Glu774Ala)
|
rs566318835
|
0.00001
|
|
NM_025137.4(SPG11):c.2376C>T (p.Phe792=)
|
rs769270075
|
0.00001
|
|
NM_025137.4(SPG11):c.2379G>A (p.Val793=)
|
rs202245950
|
0.00001
|
|
NM_025137.4(SPG11):c.2445-8G>A
|
rs777673463
|
0.00001
|
|
NM_025137.4(SPG11):c.2445G>A (p.Arg815=)
|
rs748048928
|
0.00001
|
|
NM_025137.4(SPG11):c.2470T>C (p.Phe824Leu)
|
rs1157197953
|
0.00001
|
|
NM_025137.4(SPG11):c.2487T>G (p.Val829=)
|
rs764475601
|
0.00001
|
|
NM_025137.4(SPG11):c.2493C>T (p.Asp831=)
|
rs753148847
|
0.00001
|
|
NM_025137.4(SPG11):c.2509G>C (p.Asp837His)
|
rs762708084
|
0.00001
|
|
NM_025137.4(SPG11):c.250T>C (p.Phe84Leu)
|
rs749011406
|
0.00001
|
|
NM_025137.4(SPG11):c.2518G>A (p.Asp840Asn)
|
rs769653781
|
0.00001
|
|
NM_025137.4(SPG11):c.2541T>C (p.His847=)
|
rs1329473950
|
0.00001
|
|
NM_025137.4(SPG11):c.255G>A (p.Trp85Ter)
|
rs957519261
|
0.00001
|
|
NM_025137.4(SPG11):c.257+7G>A
|
rs1595944726
|
0.00001
|
|
NM_025137.4(SPG11):c.2571G>T (p.Trp857Cys)
|
rs200542854
|
0.00001
|
|
NM_025137.4(SPG11):c.258-19T>C
|
rs891893476
|
0.00001
|
|
NM_025137.4(SPG11):c.2594T>C (p.Ile865Thr)
|
rs1444447384
|
0.00001
|
|
NM_025137.4(SPG11):c.2612dup (p.Ser871fs)
|
rs750101275
|
0.00001
|
|
NM_025137.4(SPG11):c.2616A>G (p.Pro872=)
|
rs905128570
|
0.00001
|
|
NM_025137.4(SPG11):c.2620+4A>C
|
rs765873301
|
0.00001
|
|
NM_025137.4(SPG11):c.2620+6T>C
|
rs762381864
|
0.00001
|
|
NM_025137.4(SPG11):c.2621-4G>A
|
rs1394982559
|
0.00001
|
|
NM_025137.4(SPG11):c.2621-5T>C
|
rs1331589550
|
0.00001
|
|
NM_025137.4(SPG11):c.265T>C (p.Trp89Arg)
|
rs767024812
|
0.00001
|
|
NM_025137.4(SPG11):c.2688T>C (p.Ile896=)
|
rs1243360802
|
0.00001
|
|
NM_025137.4(SPG11):c.2717A>G (p.Gln906Arg)
|
rs2083706533
|
0.00001
|
|
NM_025137.4(SPG11):c.2727T>C (p.Tyr909=)
|
rs759432908
|
0.00001
|
|
NM_025137.4(SPG11):c.2740C>T (p.Gln914Ter)
|
rs761896412
|
0.00001
|
|
NM_025137.4(SPG11):c.2765T>C (p.Val922Ala)
|
rs780318629
|
0.00001
|
|
NM_025137.4(SPG11):c.2774T>C (p.Ile925Thr)
|
rs779573001
|
0.00001
|
|
NM_025137.4(SPG11):c.2801A>G (p.Tyr934Cys)
|
rs777473151
|
0.00001
|
|
NM_025137.4(SPG11):c.2807G>A (p.Arg936Lys)
|
rs755774331
|
0.00001
|
|
NM_025137.4(SPG11):c.2821G>C (p.Asp941His)
|
rs767177124
|
0.00001
|
|
NM_025137.4(SPG11):c.2835-4A>G
|
rs201830528
|
0.00001
|
|
NM_025137.4(SPG11):c.2894G>C (p.Ser965Thr)
|
rs1329747068
|
0.00001
|
|
NM_025137.4(SPG11):c.2937C>A (p.Asn979Lys)
|
rs141238220
|
0.00001
|
|
NM_025137.4(SPG11):c.295A>G (p.Thr99Ala)
|
rs2085075688
|
0.00001
|
|
NM_025137.4(SPG11):c.2966A>G (p.His989Arg)
|
rs752882400
|
0.00001
|
|
NM_025137.4(SPG11):c.2967T>C (p.His989=)
|
rs767832837
|
0.00001
|
|
NM_025137.4(SPG11):c.2973A>G (p.Gln991=)
|
rs372308185
|
0.00001
|
|
NM_025137.4(SPG11):c.2991G>A (p.Leu997=)
|
rs200122358
|
0.00001
|
|
NM_025137.4(SPG11):c.3019G>A (p.Val1007Ile)
|
rs2083566874
|
0.00001
|
|
NM_025137.4(SPG11):c.3038+20T>C
|
rs371520578
|
0.00001
|
|
NM_025137.4(SPG11):c.3039-5T>G
|
rs763224175
|
0.00001
|
|
NM_025137.4(SPG11):c.304C>T (p.Pro102Ser)
|
rs758322703
|
0.00001
|
|
NM_025137.4(SPG11):c.3064T>C (p.Leu1022=)
|
rs1434992344
|
0.00001
|
|
NM_025137.4(SPG11):c.3121C>T (p.Arg1041Ter)
|
rs771813705
|
0.00001
|
|
NM_025137.4(SPG11):c.3122G>A (p.Arg1041Gln)
|
rs746703646
|
0.00001
|
|
NM_025137.4(SPG11):c.3134G>A (p.Ser1045Asn)
|
rs749192217
|
0.00001
|
|
NM_025137.4(SPG11):c.3195T>C (p.Ile1065=)
|
rs757632864
|
0.00001
|
|
NM_025137.4(SPG11):c.3213T>G (p.Ser1071Arg)
|
rs145195036
|
0.00001
|
|
NM_025137.4(SPG11):c.3221G>C (p.Ser1074Thr)
|
rs758982525
|
0.00001
|
|
NM_025137.4(SPG11):c.3225G>T (p.Met1075Ile)
|
rs1204053852
|
0.00001
|
|
NM_025137.4(SPG11):c.3265A>G (p.Met1089Val)
|
rs766016524
|
0.00001
|
|
NM_025137.4(SPG11):c.3266T>C (p.Met1089Thr)
|
rs1291491649
|
0.00001
|
|
NM_025137.4(SPG11):c.3280G>T (p.Gly1094Cys)
|
rs1349552147
|
0.00001
|
|
NM_025137.4(SPG11):c.3291+3A>G
|
rs773192977
|
0.00001
|
|
NM_025137.4(SPG11):c.3292-17T>C
|
rs1284535585
|
0.00001
|
|
NM_025137.4(SPG11):c.3292-6dup
|
rs777377848
|
0.00001
|
|
NM_025137.4(SPG11):c.32C>T (p.Ala11Val)
|
rs911245988
|
0.00001
|
|
NM_025137.4(SPG11):c.3331G>A (p.Val1111Met)
|
rs1291873470
|
0.00001
|
|
NM_025137.4(SPG11):c.3346T>C (p.Leu1116=)
|
rs776626926
|
0.00001
|
|
NM_025137.4(SPG11):c.336A>C (p.Glu112Asp)
|
rs1488126503
|
0.00001
|
|
NM_025137.4(SPG11):c.3399G>A (p.Gln1133=)
|
rs1051475016
|
0.00001
|
|
NM_025137.4(SPG11):c.3403A>T (p.Thr1135Ser)
|
rs1404221624
|
0.00001
|
|
NM_025137.4(SPG11):c.3412A>G (p.Ser1138Gly)
|
rs377351819
|
0.00001
|
|
NM_025137.4(SPG11):c.3417C>G (p.Val1139=)
|
rs1595875823
|
0.00001
|
|
NM_025137.4(SPG11):c.3453+14G>A
|
rs932516786
|
0.00001
|
|
NM_025137.4(SPG11):c.3453+5A>G
|
rs983973496
|
0.00001
|
|
NM_025137.4(SPG11):c.3454-9C>G
|
rs769084328
|
0.00001
|
|
NM_025137.4(SPG11):c.3505A>G (p.Thr1169Ala)
|
rs760533714
|
0.00001
|
|
NM_025137.4(SPG11):c.3510del (p.Ala1171fs)
|
rs1363959441
|
0.00001
|
|
NM_025137.4(SPG11):c.3521-20T>C
|
rs1257238224
|
0.00001
|
|
NM_025137.4(SPG11):c.3521-9T>C
|
rs1395728939
|
0.00001
|
|
NM_025137.4(SPG11):c.3525A>G (p.Ala1175=)
|
rs1432782468
|
0.00001
|
|
NM_025137.4(SPG11):c.3538C>A (p.Pro1180Thr)
|
rs747910594
|
0.00001
|
|
NM_025137.4(SPG11):c.3546C>T (p.Phe1182=)
|
rs780928415
|
0.00001
|
|
NM_025137.4(SPG11):c.3573T>C (p.Tyr1191=)
|
rs1033114266
|
0.00001
|
|
NM_025137.4(SPG11):c.3586C>T (p.Arg1196Cys)
|
rs767936997
|
0.00001
|
|
NM_025137.4(SPG11):c.3587G>A (p.Arg1196His)
|
rs373641013
|
0.00001
|
|
NM_025137.4(SPG11):c.3616G>A (p.Gly1206Arg)
|
rs1291602088
|
0.00001
|
|
NM_025137.4(SPG11):c.3620G>A (p.Arg1207Gln)
|
rs768433207
|
0.00001
|
|
NM_025137.4(SPG11):c.3663C>A (p.Ile1221=)
|
rs1388337783
|
0.00001
|
|
NM_025137.4(SPG11):c.3680A>G (p.Lys1227Arg)
|
rs767920399
|
0.00001
|
|
NM_025137.4(SPG11):c.3684G>A (p.Gln1228=)
|
rs759965980
|
0.00001
|
|
NM_025137.4(SPG11):c.3687_3688insC (p.Ile1230fs)
|
rs1459810136
|
0.00001
|
|
NM_025137.4(SPG11):c.3692A>G (p.Gln1231Arg)
|
rs374647717
|
0.00001
|
|
NM_025137.4(SPG11):c.3710C>T (p.Ala1237Val)
|
rs752883289
|
0.00001
|
|
NM_025137.4(SPG11):c.3713A>G (p.Tyr1238Cys)
|
rs150720530
|
0.00001
|
|
NM_025137.4(SPG11):c.3719T>C (p.Ile1240Thr)
|
rs770843397
|
0.00001
|
|
NM_025137.4(SPG11):c.3778T>C (p.Leu1260=)
|
rs776154524
|
0.00001
|
|
NM_025137.4(SPG11):c.3803T>C (p.Leu1268Pro)
|
rs1036205200
|
0.00001
|
|
NM_025137.4(SPG11):c.3851G>A (p.Arg1284Lys)
|
rs748208459
|
0.00001
|
|
NM_025137.4(SPG11):c.3892+5A>C
|
rs758774049
|
0.00001
|
|
NM_025137.4(SPG11):c.3893-3C>T
|
rs958984875
|
0.00001
|
|
NM_025137.4(SPG11):c.3893-5T>C
|
rs772297517
|
0.00001
|
|
NM_025137.4(SPG11):c.3893C>T (p.Ala1298Val)
|
rs768718170
|
0.00001
|
|
NM_025137.4(SPG11):c.3946C>T (p.Leu1316Phe)
|
rs764652074
|
0.00001
|
|
NM_025137.4(SPG11):c.3969A>G (p.Thr1323=)
|
rs1188260876
|
0.00001
|
|
NM_025137.4(SPG11):c.39C>T (p.Ala13=)
|
rs759646328
|
0.00001
|
|
NM_025137.4(SPG11):c.4001+13C>G
|
rs925091439
|
0.00001
|
|
NM_025137.4(SPG11):c.4002G>C (p.Arg1334Ser)
|
rs1085307814
|
0.00001
|
|
NM_025137.4(SPG11):c.4032A>G (p.Ala1344=)
|
rs777961845
|
0.00001
|
|
NM_025137.4(SPG11):c.4069C>T (p.Leu1357=)
|
rs2083057421
|
0.00001
|
|
NM_025137.4(SPG11):c.4075del (p.Ile1359fs)
|
rs1405032433
|
0.00001
|
|
NM_025137.4(SPG11):c.4085T>C (p.Leu1362Pro)
|
rs757078269
|
0.00001
|
|
NM_025137.4(SPG11):c.4107T>A (p.Asn1369Lys)
|
rs200700774
|
0.00001
|
|
NM_025137.4(SPG11):c.4109del (p.Asp1370fs)
|
rs1259332141
|
0.00001
|
|
NM_025137.4(SPG11):c.4116G>A (p.Leu1372=)
|
rs763115113
|
0.00001
|
|
NM_025137.4(SPG11):c.4145A>G (p.Asn1382Ser)
|
rs544040175
|
0.00001
|
|
NM_025137.4(SPG11):c.4148A>G (p.Tyr1383Cys)
|
rs1020900055
|
0.00001
|
|
NM_025137.4(SPG11):c.4161+8A>G
|
rs757993224
|
0.00001
|
|
NM_025137.4(SPG11):c.4185C>G (p.Phe1395Leu)
|
rs138850981
|
0.00001
|
|
NM_025137.4(SPG11):c.4201G>C (p.Asp1401His)
|
rs745439746
|
0.00001
|
|
NM_025137.4(SPG11):c.4215G>A (p.Leu1405=)
|
rs1226426496
|
0.00001
|
|
NM_025137.4(SPG11):c.4216G>T (p.Ala1406Ser)
|
rs748925327
|
0.00001
|
|
NM_025137.4(SPG11):c.423C>T (p.Leu141=)
|
rs769960206
|
0.00001
|
|
NM_025137.4(SPG11):c.4245C>T (p.Thr1415=)
|
rs1305666768
|
0.00001
|
|
NM_025137.4(SPG11):c.4284C>G (p.Pro1428=)
|
rs1485815455
|
0.00001
|
|
NM_025137.4(SPG11):c.4287G>A (p.Gln1429=)
|
rs139908662
|
0.00001
|
|
NM_025137.4(SPG11):c.429C>T (p.Asp143=)
|
rs569364105
|
0.00001
|
|
NM_025137.4(SPG11):c.4307_4308del (p.Gln1436fs)
|
rs312262759
|
0.00001
|
|
NM_025137.4(SPG11):c.4309G>C (p.Glu1437Gln)
|
rs1595860365
|
0.00001
|
|
NM_025137.4(SPG11):c.4318G>A (p.Asp1440Asn)
|
rs569349723
|
0.00001
|
|
NM_025137.4(SPG11):c.4371G>C (p.Trp1457Cys)
|
rs886819382
|
0.00001
|
|
NM_025137.4(SPG11):c.4378G>A (p.Val1460Ile)
|
rs765071316
|
0.00001
|
|
NM_025137.4(SPG11):c.4405A>G (p.Ile1469Val)
|
rs767802753
|
0.00001
|
|
NM_025137.4(SPG11):c.4435-20T>C
|
rs775474229
|
0.00001
|
|
NM_025137.4(SPG11):c.4498A>G (p.Thr1500Ala)
|
rs758867131
|
0.00001
|
|
NM_025137.4(SPG11):c.4512A>T (p.Gly1504=)
|
rs539384073
|
0.00001
|
|
NM_025137.4(SPG11):c.4539T>C (p.His1513=)
|
rs763700515
|
0.00001
|
|
NM_025137.4(SPG11):c.4548C>G (p.Asn1516Lys)
|
rs759489082
|
0.00001
|
|
NM_025137.4(SPG11):c.454T>C (p.Leu152=)
|
rs762866477
|
0.00001
|
|
NM_025137.4(SPG11):c.4561T>C (p.Ser1521Pro)
|
rs748236366
|
0.00001
|
|
NM_025137.4(SPG11):c.4590A>G (p.Arg1530=)
|
rs1470921765
|
0.00001
|
|
NM_025137.4(SPG11):c.4617T>C (p.Gly1539=)
|
rs1227955161
|
0.00001
|
|
NM_025137.4(SPG11):c.4635+17C>T
|
rs1328371346
|
0.00001
|
|
NM_025137.4(SPG11):c.4667A>G (p.Tyr1556Cys)
|
rs1374442173
|
0.00001
|
|
NM_025137.4(SPG11):c.4674G>C (p.Leu1558=)
|
rs376125033
|
0.00001
|
|
NM_025137.4(SPG11):c.4695T>C (p.Tyr1565=)
|
rs369641994
|
0.00001
|
|
NM_025137.4(SPG11):c.4698A>G (p.Lys1566=)
|
rs1274205803
|
0.00001
|
|
NM_025137.4(SPG11):c.4702G>A (p.Ala1568Thr)
|
rs767343843
|
0.00001
|
|
NM_025137.4(SPG11):c.4739A>G (p.Glu1580Gly)
|
rs1035956118
|
0.00001
|
|
NM_025137.4(SPG11):c.4742C>T (p.Thr1581Met)
|
rs766297012
|
0.00001
|
|
NM_025137.4(SPG11):c.4743G>A (p.Thr1581=)
|
rs762755586
|
0.00001
|
|
NM_025137.4(SPG11):c.4744-7T>C
|
rs1179242305
|
0.00001
|
|
NM_025137.4(SPG11):c.4750A>G (p.Thr1584Ala)
|
rs1595851014
|
0.00001
|
|
NM_025137.4(SPG11):c.4753G>T (p.Ala1585Ser)
|
rs1567143067
|
0.00001
|
|
NM_025137.4(SPG11):c.4757C>G (p.Ala1586Gly)
|
rs1332100392
|
0.00001
|
|
NM_025137.4(SPG11):c.4786A>G (p.Met1596Val)
|
rs1316107379
|
0.00001
|
|
NM_025137.4(SPG11):c.4790G>A (p.Trp1597Ter)
|
rs753920931
|
0.00001
|
|
NM_025137.4(SPG11):c.4801C>G (p.Gln1601Glu)
|
rs764442362
|
0.00001
|
|
NM_025137.4(SPG11):c.4822C>T (p.Leu1608Phe)
|
rs1205123910
|
0.00001
|
|
NM_025137.4(SPG11):c.4827G>A (p.Met1609Ile)
|
rs1208218561
|
0.00001
|
|
NM_025137.4(SPG11):c.4877T>G (p.Phe1626Cys)
|
rs553905886
|
0.00001
|
|
NM_025137.4(SPG11):c.4888G>T (p.Glu1630Ter)
|
rs368276916
|
0.00001
|
|
NM_025137.4(SPG11):c.4899C>T (p.Phe1633=)
|
rs375726465
|
0.00001
|
|
NM_025137.4(SPG11):c.4906+9A>G
|
rs756226746
|
0.00001
|
|
NM_025137.4(SPG11):c.4910C>A (p.Pro1637Gln)
|
rs755996252
|
0.00001
|
|
NM_025137.4(SPG11):c.4917G>A (p.Val1639=)
|
rs1452851829
|
0.00001
|
|
NM_025137.4(SPG11):c.4933C>T (p.Leu1645Phe)
|
rs147735958
|
0.00001
|
|
NM_025137.4(SPG11):c.4939C>T (p.Gln1647Ter)
|
rs959026057
|
0.00001
|
|
NM_025137.4(SPG11):c.4950G>T (p.Lys1650Asn)
|
rs764587462
|
0.00001
|
|
NM_025137.4(SPG11):c.496C>G (p.Leu166Val)
|
rs372037097
|
0.00001
|
|
NM_025137.4(SPG11):c.4970A>G (p.Asn1657Ser)
|
rs376207036
|
0.00001
|
|
NM_025137.4(SPG11):c.4992C>T (p.Tyr1664=)
|
rs933291966
|
0.00001
|
|
NM_025137.4(SPG11):c.5019T>C (p.Cys1673=)
|
rs770619204
|
0.00001
|
|
NM_025137.4(SPG11):c.5043G>A (p.Gln1681=)
|
rs1595845600
|
0.00001
|
|
NM_025137.4(SPG11):c.5058C>T (p.Phe1686=)
|
rs1435099458
|
0.00001
|
|
NM_025137.4(SPG11):c.5059G>A (p.Ala1687Thr)
|
rs779161014
|
0.00001
|
|
NM_025137.4(SPG11):c.5077G>A (p.Ala1693Thr)
|
rs753244084
|
0.00001
|
|
NM_025137.4(SPG11):c.5081A>T (p.Glu1694Val)
|
rs2082747020
|
0.00001
|
|
NM_025137.4(SPG11):c.5082A>G (p.Glu1694=)
|
rs914692956
|
0.00001
|
|
NM_025137.4(SPG11):c.5094A>G (p.Leu1698=)
|
rs759063821
|
0.00001
|
|
NM_025137.4(SPG11):c.5113A>G (p.Ile1705Val)
|
rs959255565
|
0.00001
|
|
NM_025137.4(SPG11):c.5121+18T>C
|
rs756471507
|
0.00001
|
|
NM_025137.4(SPG11):c.5127A>G (p.Thr1709=)
|
rs1393655599
|
0.00001
|
|
NM_025137.4(SPG11):c.5151C>T (p.His1717=)
|
rs1157164793
|
0.00001
|
|
NM_025137.4(SPG11):c.5156A>G (p.Glu1719Gly)
|
rs769858527
|
0.00001
|
|
NM_025137.4(SPG11):c.5158C>T (p.Gln1720Ter)
|
rs1060501173
|
0.00001
|
|
NM_025137.4(SPG11):c.519C>T (p.Ile173=)
|
rs777235892
|
0.00001
|
|
NM_025137.4(SPG11):c.522A>G (p.Leu174=)
|
rs769257325
|
0.00001
|
|
NM_025137.4(SPG11):c.5249C>T (p.Ser1750Phe)
|
rs1051920299
|
0.00001
|
|
NM_025137.4(SPG11):c.5267C>G (p.Ala1756Gly)
|
rs1185441476
|
0.00001
|
|
NM_025137.4(SPG11):c.5269C>T (p.His1757Tyr)
|
rs1060501170
|
0.00001
|
|
NM_025137.4(SPG11):c.5272G>A (p.Val1758Met)
|
rs773125953
|
0.00001
|
|
NM_025137.4(SPG11):c.5275G>T (p.Ala1759Ser)
|
rs1346852806
|
0.00001
|
|
NM_025137.4(SPG11):c.5286C>T (p.His1762=)
|
rs769919296
|
0.00001
|
|
NM_025137.4(SPG11):c.5303G>C (p.Ser1768Thr)
|
rs1006117026
|
0.00001
|
|
NM_025137.4(SPG11):c.5306T>C (p.Met1769Thr)
|
rs748258958
|
0.00001
|
|
NM_025137.4(SPG11):c.5322del (p.Leu1775fs)
|
rs2082714895
|
0.00001
|
|
NM_025137.4(SPG11):c.536C>A (p.Pro179His)
|
rs144167846
|
0.00001
|
|
NM_025137.4(SPG11):c.5388G>A (p.Glu1796=)
|
rs917858944
|
0.00001
|
|
NM_025137.4(SPG11):c.5392G>A (p.Glu1798Lys)
|
rs201254271
|
0.00001
|
|
NM_025137.4(SPG11):c.5416A>G (p.Ile1806Val)
|
rs1427065816
|
0.00001
|
|
NM_025137.4(SPG11):c.5434G>C (p.Gly1812Arg)
|
rs1309027007
|
0.00001
|
|
NM_025137.4(SPG11):c.5470C>T (p.Arg1824Ter)
|
rs312262767
|
0.00001
|
|
NM_025137.4(SPG11):c.5489G>A (p.Gly1830Asp)
|
rs529748787
|
0.00001
|
|
NM_025137.4(SPG11):c.5564T>C (p.Leu1855Ser)
|
rs138009927
|
0.00001
|
|
NM_025137.4(SPG11):c.5595A>G (p.Thr1865=)
|
rs375403626
|
0.00001
|
|
NM_025137.4(SPG11):c.5598C>T (p.Cys1866=)
|
rs570599267
|
0.00001
|
|
NM_025137.4(SPG11):c.561A>G (p.Val187=)
|
rs1177000583
|
0.00001
|
|
NM_025137.4(SPG11):c.5648G>A (p.Gly1883Glu)
|
rs1298405606
|
0.00001
|
|
NM_025137.4(SPG11):c.5651G>T (p.Arg1884Leu)
|
rs767776590
|
0.00001
|
|
NM_025137.4(SPG11):c.5669G>A (p.Cys1890Tyr)
|
rs770861439
|
0.00001
|
|
NM_025137.4(SPG11):c.566A>G (p.Asn189Ser)
|
rs752834137
|
0.00001
|
|
NM_025137.4(SPG11):c.5671G>A (p.Val1891Met)
|
rs1483911645
|
0.00001
|
|
NM_025137.4(SPG11):c.5688A>C (p.Arg1896Ser)
|
rs2082706047
|
0.00001
|
|
NM_025137.4(SPG11):c.568T>C (p.Cys190Arg)
|
rs767712066
|
0.00001
|
|
NM_025137.4(SPG11):c.5691A>G (p.Val1897=)
|
rs150077116
|
0.00001
|
|
NM_025137.4(SPG11):c.5703T>C (p.Phe1901=)
|
rs1400427975
|
0.00001
|
|
NM_025137.4(SPG11):c.5720A>G (p.Asp1907Gly)
|
rs1158214037
|
0.00001
|
|
NM_025137.4(SPG11):c.5741G>T (p.Cys1914Phe)
|
rs752725391
|
0.00001
|
|
NM_025137.4(SPG11):c.5757_5758del (p.Glu1921fs)
|
rs771558571
|
0.00001
|
|
NM_025137.4(SPG11):c.5772_5781dup (p.His1928fs)
|
rs779321661
|
0.00001
|
|
NM_025137.4(SPG11):c.5786C>G (p.Pro1929Arg)
|
rs375020581
|
0.00001
|
|
NM_025137.4(SPG11):c.5811T>C (p.Ser1937=)
|
rs775073827
|
0.00001
|
|
NM_025137.4(SPG11):c.5818C>T (p.Leu1940=)
|
rs745716037
|
0.00001
|
|
NM_025137.4(SPG11):c.581C>T (p.Pro194Leu)
|
rs573482671
|
0.00001
|
|
NM_025137.4(SPG11):c.5838C>T (p.Pro1946=)
|
rs755068950
|
0.00001
|
|
NM_025137.4(SPG11):c.5841C>G (p.Asp1947Glu)
|
rs372380495
|
0.00001
|
|
NM_025137.4(SPG11):c.5848C>T (p.Leu1950=)
|
rs758810317
|
0.00001
|
|
NM_025137.4(SPG11):c.5860C>T (p.His1954Tyr)
|
rs368382627
|
0.00001
|
|
NM_025137.4(SPG11):c.5866+1G>A
|
rs765725393
|
0.00001
|
|
NM_025137.4(SPG11):c.5920G>T (p.Val1974Leu)
|
rs770707105
|
0.00001
|
|
NM_025137.4(SPG11):c.5925_5934dup (p.Val1979Ter)
|
rs749652788
|
0.00001
|
|
NM_025137.4(SPG11):c.5947A>C (p.Lys1983Gln)
|
rs1198502086
|
0.00001
|
|
NM_025137.4(SPG11):c.5974C>T (p.Arg1992Ter)
|
rs200793464
|
0.00001
|
|
NM_025137.4(SPG11):c.5975G>A (p.Arg1992Gln)
|
rs141262934
|
0.00001
|
|
NM_025137.4(SPG11):c.5986dup (p.Cys1996fs)
|
rs312262775
|
0.00001
|
|
NM_025137.4(SPG11):c.5987G>C (p.Cys1996Ser)
|
rs1567132702
|
0.00001
|
|
NM_025137.4(SPG11):c.5989C>T (p.Leu1997=)
|
rs1471262430
|
0.00001
|
|
NM_025137.4(SPG11):c.599T>C (p.Val200Ala)
|
rs553484553
|
0.00001
|
|
NM_025137.4(SPG11):c.6006+15G>T
|
rs1313329508
|
0.00001
|
|
NM_025137.4(SPG11):c.6009G>T (p.Glu2003Asp)
|
rs954483795
|
0.00001
|
|
NM_025137.4(SPG11):c.6011T>C (p.Leu2004Ser)
|
rs995829315
|
0.00001
|
|
NM_025137.4(SPG11):c.6017G>A (p.Cys2006Tyr)
|
rs1179229360
|
0.00001
|
|
NM_025137.4(SPG11):c.6061C>T (p.Arg2021Trp)
|
rs777943276
|
0.00001
|
|
NM_025137.4(SPG11):c.6067A>G (p.Ile2023Val)
|
rs981262919
|
0.00001
|
|
NM_025137.4(SPG11):c.6092G>A (p.Arg2031Gln)
|
rs1365555358
|
0.00001
|
|
NM_025137.4(SPG11):c.6101G>A (p.Arg2034Gln)
|
rs750101301
|
0.00001
|
|
NM_025137.4(SPG11):c.612T>C (p.Ile204=)
|
rs906644527
|
0.00001
|
|
NM_025137.4(SPG11):c.6155T>C (p.Leu2052Pro)
|
rs1430100305
|
0.00001
|
|
NM_025137.4(SPG11):c.6156C>T (p.Leu2052=)
|
rs752218927
|
0.00001
|
|
NM_025137.4(SPG11):c.6175C>T (p.Arg2059Trp)
|
rs755438310
|
0.00001
|
|
NM_025137.4(SPG11):c.6180G>C (p.Glu2060Asp)
|
rs753980126
|
0.00001
|
|
NM_025137.4(SPG11):c.6205+1G>A
|
rs753650233
|
0.00001
|
|
NM_025137.4(SPG11):c.6205+8A>G
|
rs763990388
|
0.00001
|
|
NM_025137.4(SPG11):c.6209A>G (p.His2070Arg)
|
rs202069061
|
0.00001
|
|
NM_025137.4(SPG11):c.6226C>A (p.Pro2076Thr)
|
rs755953167
|
0.00001
|
|
NM_025137.4(SPG11):c.6252T>A (p.Leu2084=)
|
rs1231775993
|
0.00001
|
|
NM_025137.4(SPG11):c.627C>T (p.Cys209=)
|
rs768344320
|
0.00001
|
|
NM_025137.4(SPG11):c.6326A>G (p.His2109Arg)
|
rs780979118
|
0.00001
|
|
NM_025137.4(SPG11):c.6339T>G (p.Ser2113=)
|
rs764165583
|
0.00001
|
|
NM_025137.4(SPG11):c.6343A>G (p.Thr2115Ala)
|
rs2082447213
|
0.00001
|
|
NM_025137.4(SPG11):c.6344-5C>T
|
rs1243652760
|
0.00001
|
|
NM_025137.4(SPG11):c.6380C>A (p.Thr2127Asn)
|
rs773909173
|
0.00001
|
|
NM_025137.4(SPG11):c.6390C>T (p.Cys2130=)
|
rs1391522611
|
0.00001
|
|
NM_025137.4(SPG11):c.6395T>C (p.Met2132Thr)
|
rs771913148
|
0.00001
|
|
NM_025137.4(SPG11):c.6397G>A (p.Glu2133Lys)
|
rs2082402813
|
0.00001
|
|
NM_025137.4(SPG11):c.6406A>G (p.Ile2136Val)
|
rs370189964
|
0.00001
|
|
NM_025137.4(SPG11):c.6409C>T (p.Arg2137Ter)
|
rs769898852
|
0.00001
|
|
NM_025137.4(SPG11):c.6423C>T (p.Ala2141=)
|
rs952927034
|
0.00001
|
|
NM_025137.4(SPG11):c.6428A>C (p.His2143Pro)
|
rs1490278448
|
0.00001
|
|
NM_025137.4(SPG11):c.6435C>T (p.Leu2145=)
|
rs758895071
|
0.00001
|
|
NM_025137.4(SPG11):c.6458G>T (p.Ser2153Ile)
|
rs543344637
|
0.00001
|
|
NM_025137.4(SPG11):c.6468T>C (p.Tyr2156=)
|
rs146240471
|
0.00001
|
|
NM_025137.4(SPG11):c.6470G>A (p.Gly2157Glu)
|
rs1437823754
|
0.00001
|
|
NM_025137.4(SPG11):c.6477+8G>A
|
rs1271281447
|
0.00001
|
|
NM_025137.4(SPG11):c.650G>A (p.Ser217Asn)
|
rs1037956688
|
0.00001
|
|
NM_025137.4(SPG11):c.6511G>A (p.Glu2171Lys)
|
rs1051526194
|
0.00001
|
|
NM_025137.4(SPG11):c.6526T>C (p.Phe2176Leu)
|
rs752165478
|
0.00001
|
|
NM_025137.4(SPG11):c.6559G>A (p.Val2187Met)
|
rs2082372397
|
0.00001
|
|
NM_025137.4(SPG11):c.6577T>G (p.Leu2193Val)
|
rs772999696
|
0.00001
|
|
NM_025137.4(SPG11):c.6584C>T (p.Pro2195Leu)
|
rs765217079
|
0.00001
|
|
NM_025137.4(SPG11):c.6585+7G>A
|
rs1060504157
|
0.00001
|
|
NM_025137.4(SPG11):c.6585G>A (p.Pro2195=)
|
rs1206211976
|
0.00001
|
|
NM_025137.4(SPG11):c.6586-5G>A
|
rs2082337023
|
0.00001
|
|
NM_025137.4(SPG11):c.6626G>A (p.Arg2209His)
|
rs576265832
|
0.00001
|
|
NM_025137.4(SPG11):c.6628T>C (p.Cys2210Arg)
|
rs761830487
|
0.00001
|
|
NM_025137.4(SPG11):c.6631C>T (p.Arg2211Cys)
|
rs148260507
|
0.00001
|
|
NM_025137.4(SPG11):c.6660G>A (p.Met2220Ile)
|
rs763092541
|
0.00001
|
|
NM_025137.4(SPG11):c.6669G>A (p.Leu2223=)
|
rs1034401019
|
0.00001
|
|
NM_025137.4(SPG11):c.6672C>T (p.Cys2224=)
|
rs770198283
|
0.00001
|
|
NM_025137.4(SPG11):c.6678C>T (p.Ser2226=)
|
rs1193369646
|
0.00001
|
|
NM_025137.4(SPG11):c.668-5A>G
|
rs1177386932
|
0.00001
|
|
NM_025137.4(SPG11):c.6685C>T (p.Arg2229Trp)
|
rs751245734
|
0.00001
|
|
NM_025137.4(SPG11):c.6686G>A (p.Arg2229Gln)
|
rs781690910
|
0.00001
|
|
NM_025137.4(SPG11):c.6696C>T (p.Gly2232=)
|
rs758000490
|
0.00001
|
|
NM_025137.4(SPG11):c.6697G>A (p.Glu2233Lys)
|
rs373587870
|
0.00001
|
|
NM_025137.4(SPG11):c.6707A>T (p.Glu2236Val)
|
rs1428941848
|
0.00001
|
|
NM_025137.4(SPG11):c.6712G>A (p.Ala2238Thr)
|
rs35504505
|
0.00001
|
|
NM_025137.4(SPG11):c.6718C>T (p.Arg2240Cys)
|
rs146937747
|
0.00001
|
|
NM_025137.4(SPG11):c.6724C>T (p.Gln2242Ter)
|
rs866400911
|
0.00001
|
|
NM_025137.4(SPG11):c.6726A>G (p.Gln2242=)
|
rs376245210
|
0.00001
|
|
NM_025137.4(SPG11):c.6755-13A>G
|
rs762051999
|
0.00001
|
|
NM_025137.4(SPG11):c.6755-17C>T
|
rs1595817791
|
0.00001
|
|
NM_025137.4(SPG11):c.6790C>G (p.Leu2264Val)
|
rs1264367885
|
0.00001
|
|
NM_025137.4(SPG11):c.6805C>T (p.Leu2269=)
|
rs781036043
|
0.00001
|
|
NM_025137.4(SPG11):c.6814A>T (p.Met2272Leu)
|
rs1186136891
|
0.00001
|
|
NM_025137.4(SPG11):c.6819G>A (p.Leu2273=)
|
rs1015873288
|
0.00001
|
|
NM_025137.4(SPG11):c.6843+7C>T
|
rs1322942539
|
0.00001
|
|
NM_025137.4(SPG11):c.6856C>T (p.Arg2286Ter)
|
rs312262785
|
0.00001
|
|
NM_025137.4(SPG11):c.6866A>G (p.Gln2289Arg)
|
rs140563925
|
0.00001
|
|
NM_025137.4(SPG11):c.6871T>C (p.Cys2291Arg)
|
rs772796744
|
0.00001
|
|
NM_025137.4(SPG11):c.6881T>C (p.Leu2294Pro)
|
rs1275110844
|
0.00001
|
|
NM_025137.4(SPG11):c.6893T>C (p.Ile2298Thr)
|
rs1452765602
|
0.00001
|
|
NM_025137.4(SPG11):c.6899T>C (p.Leu2300Pro)
|
rs371334506
|
0.00001
|
|
NM_025137.4(SPG11):c.6907C>G (p.His2303Asp)
|
rs777915558
|
0.00001
|
|
NM_025137.4(SPG11):c.6908A>T (p.His2303Leu)
|
rs1350164343
|
0.00001
|
|
NM_025137.4(SPG11):c.6921T>C (p.Thr2307=)
|
rs1460874304
|
0.00001
|
|
NM_025137.4(SPG11):c.6939C>T (p.Leu2313=)
|
rs1298022335
|
0.00001
|
|
NM_025137.4(SPG11):c.695A>G (p.Tyr232Cys)
|
rs375915115
|
0.00001
|
|
NM_025137.4(SPG11):c.6989G>A (p.Arg2330Gln)
|
rs142339015
|
0.00001
|
|
NM_025137.4(SPG11):c.699A>T (p.Val233=)
|
rs1416160421
|
0.00001
|
|
NM_025137.4(SPG11):c.7035A>T (p.Pro2345=)
|
rs776878909
|
0.00001
|
|
NM_025137.4(SPG11):c.703C>T (p.His235Tyr)
|
rs148934301
|
0.00001
|
|
NM_025137.4(SPG11):c.7050T>C (p.Ile2350=)
|
rs758862344
|
0.00001
|
|
NM_025137.4(SPG11):c.7054T>C (p.Tyr2352His)
|
rs149711747
|
0.00001
|
|
NM_025137.4(SPG11):c.7115T>A (p.Leu2372Ter)
|
rs762984907
|
0.00001
|
|
NM_025137.4(SPG11):c.7137A>G (p.Glu2379=)
|
rs1398977843
|
0.00001
|
|
NM_025137.4(SPG11):c.7138G>T (p.Glu2380Ter)
|
rs369467143
|
0.00001
|
|
NM_025137.4(SPG11):c.7151+9T>C
|
rs1301085412
|
0.00001
|
|
NM_025137.4(SPG11):c.7152-1G>C
|
rs200079802
|
0.00001
|
|
NM_025137.4(SPG11):c.7152-8T>G
|
rs1281133135
|
0.00001
|
|
NM_025137.4(SPG11):c.7155T>C (p.Tyr2385=)
|
rs778305085
|
0.00001
|
|
NM_025137.4(SPG11):c.7164T>A (p.His2388Gln)
|
rs1406897126
|
0.00001
|
|
NM_025137.4(SPG11):c.7166A>G (p.Gln2389Arg)
|
rs1321393268
|
0.00001
|
|
NM_025137.4(SPG11):c.716C>T (p.Ala239Val)
|
rs764680914
|
0.00001
|
|
NM_025137.4(SPG11):c.7172C>T (p.Thr2391Ile)
|
rs375508694
|
0.00001
|
|
NM_025137.4(SPG11):c.7184T>C (p.Met2395Thr)
|
rs754598618
|
0.00001
|
|
NM_025137.4(SPG11):c.7222G>A (p.Val2408Ile)
|
rs767553029
|
0.00001
|
|
NM_025137.4(SPG11):c.7255_7256dup (p.Phe2420fs)
|
rs532737377
|
0.00001
|
|
NM_025137.4(SPG11):c.7258T>A (p.Phe2420Ile)
|
rs779900397
|
0.00001
|
|
NM_025137.4(SPG11):c.7263T>C (p.Tyr2421=)
|
rs758146508
|
0.00001
|
|
NM_025137.4(SPG11):c.7270G>A (p.Val2424Ile)
|
rs1300000065
|
0.00001
|
|
NM_025137.4(SPG11):c.7275T>G (p.Asn2425Lys)
|
rs778864726
|
0.00001
|
|
NM_025137.4(SPG11):c.7317C>T (p.Asp2439=)
|
rs1445433088
|
0.00001
|
|
NM_025137.4(SPG11):c.7320G>A (p.Met2440Ile)
|
rs566201722
|
0.00001
|
|
NM_025137.4(SPG11):c.7322T>C (p.Leu2441Pro)
|
rs773503745
|
0.00001
|
|
NM_025137.4(SPG11):c.7326del (p.Gly2443fs)
|
rs751228307
|
0.00001
|
|
NM_025137.4(SPG11):c.733A>G (p.Met245Val)
|
rs863224796
|
0.00001
|
|
NM_025137.4(SPG11):c.757C>T (p.Pro253Ser)
|
rs777515617
|
0.00001
|
|
NM_025137.4(SPG11):c.764A>C (p.Lys255Thr)
|
rs758601401
|
0.00001
|
|
NM_025137.4(SPG11):c.77T>C (p.Leu26Pro)
|
rs757155556
|
0.00001
|
|
NM_025137.4(SPG11):c.783A>G (p.Ser261=)
|
rs757513010
|
0.00001
|
|
NM_025137.4(SPG11):c.796C>T (p.Gln266Ter)
|
rs1234882277
|
0.00001
|
|
NM_025137.4(SPG11):c.79C>T (p.Pro27Ser)
|
rs777798718
|
0.00001
|
|
NM_025137.4(SPG11):c.800A>C (p.Asp267Ala)
|
rs1189328432
|
0.00001
|
|
NM_025137.4(SPG11):c.805G>A (p.Asp269Asn)
|
rs759231633
|
0.00001
|
|
NM_025137.4(SPG11):c.80C>T (p.Pro27Leu)
|
rs756011988
|
0.00001
|
|
NM_025137.4(SPG11):c.811G>A (p.Ala271Thr)
|
rs770722777
|
0.00001
|
|
NM_025137.4(SPG11):c.828C>A (p.Ser276=)
|
rs780079430
|
0.00001
|
|
NM_025137.4(SPG11):c.838G>A (p.Ala280Thr)
|
rs757501528
|
0.00001
|
|
NM_025137.4(SPG11):c.84G>T (p.Met28Ile)
|
rs201316593
|
0.00001
|
|
NM_025137.4(SPG11):c.865T>A (p.Phe289Ile)
|
rs1316470185
|
0.00001
|
|
NM_025137.4(SPG11):c.936C>T (p.Gly312=)
|
rs771082349
|
0.00001
|
|
NM_025137.4(SPG11):c.946G>T (p.Asp316Tyr)
|
rs1040889072
|
0.00001
|
|
NM_025137.4(SPG11):c.95C>T (p.Pro32Leu)
|
rs368405168
|
0.00001
|
|
NM_025137.4(SPG11):c.980T>C (p.Leu327Pro)
|
rs201444186
|
0.00001
|
|
NM_025137.4(SPG11):c.999A>T (p.Gln333His)
|
rs753613456
|
0.00001
|
|
NM_030954.4(RNF170):c.396+3A>G
|
rs1159600703
|
0.00001
|
|
NM_031448.6(C19orf12):c.-11+223G>A
|
rs1339985700
|
0.00001
|
|
NM_031448.6(C19orf12):c.-6G>A
|
rs781205888
|
0.00001
|
|
NM_031448.6(C19orf12):c.-7C>T
|
rs142481023
|
0.00001
|
|
NM_031448.6(C19orf12):c.123C>T (p.Val41=)
|
rs374520604
|
0.00001
|
|
NM_031448.6(C19orf12):c.127G>A (p.Gly43Ser)
|
rs1972485341
|
0.00001
|
|
NM_031448.6(C19orf12):c.160+8C>T
|
rs186360260
|
0.00001
|
|
NM_031448.6(C19orf12):c.161-2del
|
rs1352744778
|
0.00001
|
|
NM_031448.6(C19orf12):c.169G>C (p.Val57Leu)
|
rs1972190861
|
0.00001
|
|
NM_031448.6(C19orf12):c.170T>C (p.Val57Ala)
|
rs766939148
|
0.00001
|
|
NM_031448.6(C19orf12):c.172G>A (p.Gly58Arg)
|
rs515726205
|
0.00001
|
|
NM_031448.6(C19orf12):c.180G>C (p.Leu60=)
|
rs762116472
|
0.00001
|
|
NM_031448.6(C19orf12):c.214C>T (p.Pro72Ser)
|
rs1487944357
|
0.00001
|
|
NM_031448.6(C19orf12):c.221C>G (p.Pro74Arg)
|
rs747900430
|
0.00001
|
|
NM_031448.6(C19orf12):c.238C>T (p.Leu80=)
|
rs753364652
|
0.00001
|
|
NM_031448.6(C19orf12):c.277G>A (p.Ala93Thr)
|
rs964208776
|
0.00001
|
|
NM_031448.6(C19orf12):c.290G>A (p.Arg97Lys)
|
rs778618279
|
0.00001
|
|
NM_031448.6(C19orf12):c.326C>T (p.Ala109Val)
|
rs752858139
|
0.00001
|
|
NM_031448.6(C19orf12):c.385G>A (p.Val129Ile)
|
rs1412677570
|
0.00001
|
|
NM_031448.6(C19orf12):c.396G>A (p.Glu132=)
|
rs752074465
|
0.00001
|
|
NM_031448.6(C19orf12):c.401G>A (p.Arg134Gln)
|
rs778355384
|
0.00001
|
|
NM_031448.6(C19orf12):c.59A>G (p.Lys20Arg)
|
rs901084258
|
0.00001
|
|
NM_031448.6(C19orf12):c.83C>T (p.Ser28Phe)
|
rs1204865094
|
0.00001
|
|
NM_031448.6(C19orf12):c.85G>C (p.Gly29Arg)
|
rs746178765
|
0.00001
|
|
NM_032756.4(HPDL):c.149G>A (p.Gly50Asp)
|
rs1391712320
|
0.00001
|
|
NM_058004.4(PI4KA):c.2386C>T (p.Arg796Ter)
|
rs777006911
|
0.00001
|
|
NM_058004.4(PI4KA):c.2575-1G>A
|
rs775166339
|
0.00001
|
|
NM_058004.4(PI4KA):c.3454G>A (p.Glu1152Lys)
|
rs1351749039
|
0.00001
|
|
NM_058004.4(PI4KA):c.4867T>G (p.Tyr1623Asp)
|
rs776650691
|
0.00001
|
|
NM_058004.4(PI4KA):c.5512G>A (p.Asp1838Asn)
|
rs760261849
|
0.00001
|
|
NM_058004.4(PI4KA):c.5560G>A (p.Asp1854Asn)
|
rs747119727
|
0.00001
|
|
NM_133443.4(GPT2):c.1037+5G>A
|
rs1277787958
|
0.00001
|
|
NM_133443.4(GPT2):c.274C>T (p.Arg92Ter)
|
rs190315044
|
0.00001
|
|
NM_133443.4(GPT2):c.478C>T (p.Arg160Cys)
|
rs749413260
|
0.00001
|
|
NM_133443.4(GPT2):c.70C>T (p.Gln24Ter)
|
rs1437184398
|
0.00001
|
|
NM_144599.5(NIPA1):c.*1277A>C
|
rs1045487020
|
0.00001
|
|
NM_144599.5(NIPA1):c.*1529C>T
|
rs945517071
|
0.00001
|
|
NM_144599.5(NIPA1):c.*1788G>A
|
rs540627450
|
0.00001
|
|
NM_144599.5(NIPA1):c.*1860G>A
|
rs886051001
|
0.00001
|
|
NM_144599.5(NIPA1):c.*2148C>A
|
rs886050997
|
0.00001
|
|
NM_144599.5(NIPA1):c.*2375A>G
|
rs117724187
|
0.00001
|
|
NM_144599.5(NIPA1):c.*2465C>G
|
rs1191576484
|
0.00001
|
|
NM_144599.5(NIPA1):c.*2942G>A
|
rs1363852025
|
0.00001
|
|
NM_144599.5(NIPA1):c.*3008C>T
|
rs886050993
|
0.00001
|
|
NM_144599.5(NIPA1):c.*4147C>T
|
rs886050989
|
0.00001
|
|
NM_144599.5(NIPA1):c.*414C>T
|
rs1216632909
|
0.00001
|
|
NM_144599.5(NIPA1):c.*4656G>A
|
rs903689729
|
0.00001
|
|
NM_144599.5(NIPA1):c.*4677G>A
|
rs780979919
|
0.00001
|
|
NM_144599.5(NIPA1):c.*531T>G
|
rs1020166733
|
0.00001
|
|
NM_144599.5(NIPA1):c.*5362A>G
|
rs1895714380
|
0.00001
|
|
NM_144599.5(NIPA1):c.*553C>A
|
rs545152723
|
0.00001
|
|
NM_144599.5(NIPA1):c.*780G>A
|
rs886051003
|
0.00001
|
|
NM_144599.5(NIPA1):c.*976C>T
|
rs555439829
|
0.00001
|
|
NM_144599.5(NIPA1):c.150G>A (p.Lys50=)
|
rs749385624
|
0.00001
|
|
NM_144599.5(NIPA1):c.154G>A (p.Gly52Ser)
|
rs1382408147
|
0.00001
|
|
NM_144599.5(NIPA1):c.222C>G (p.Ile74Met)
|
rs778472114
|
0.00001
|
|
NM_144599.5(NIPA1):c.267G>A (p.Ala89=)
|
rs751391752
|
0.00001
|
|
NM_144599.5(NIPA1):c.275C>T (p.Thr92Met)
|
rs765306724
|
0.00001
|
|
NM_144599.5(NIPA1):c.292C>T (p.Leu98=)
|
rs1235395631
|
0.00001
|
|
NM_144599.5(NIPA1):c.324T>C (p.Ile108=)
|
rs748004567
|
0.00001
|
|
NM_144599.5(NIPA1):c.399C>T (p.Ser133=)
|
rs374424039
|
0.00001
|
|
NM_144599.5(NIPA1):c.479-7G>T
|
rs758551462
|
0.00001
|
|
NM_144599.5(NIPA1):c.479-9G>A
|
rs1566789035
|
0.00001
|
|
NM_144599.5(NIPA1):c.636G>A (p.Ala212=)
|
rs147232331
|
0.00001
|
|
NM_144599.5(NIPA1):c.662C>T (p.Pro221Leu)
|
rs781753198
|
0.00001
|
|
NM_144599.5(NIPA1):c.726C>T (p.Ile242=)
|
rs143840469
|
0.00001
|
|
NM_144599.5(NIPA1):c.727G>C (p.Val243Leu)
|
rs775960315
|
0.00001
|
|
NM_144599.5(NIPA1):c.798C>T (p.Val266=)
|
rs1008907564
|
0.00001
|
|
NM_144599.5(NIPA1):c.810G>A (p.Thr270=)
|
rs138394129
|
0.00001
|
|
NM_144599.5(NIPA1):c.841C>T (p.Arg281Trp)
|
rs1011104387
|
0.00001
|
|
NM_144599.5(NIPA1):c.928G>A (p.Val310Met)
|
rs1162539945
|
0.00001
|
|
NM_152269.5(MTRFR):c.212G>C (p.Gly71Ala)
|
rs774090934
|
0.00001
|
|
NM_152269.5(MTRFR):c.333C>A (p.Ile111=)
|
rs769551356
|
0.00001
|
|
NM_152269.5(MTRFR):c.347T>C (p.Val116Ala)
|
rs374464556
|
0.00001
|
|
NM_152269.5(MTRFR):c.394C>T (p.Arg132Ter)
|
rs397514539
|
0.00001
|
|
NM_152269.5(MTRFR):c.433G>A (p.Ala145Thr)
|
rs749208492
|
0.00001
|
|
NM_152415.3(VPS37A):c.303A>G (p.Pro101=)
|
rs759450791
|
0.00001
|
|
NM_152415.3(VPS37A):c.424A>G (p.Ser142Gly)
|
rs371463914
|
0.00001
|
|
NM_152415.3(VPS37A):c.451G>T (p.Ala151Ser)
|
rs1326352833
|
0.00001
|
|
NM_152415.3(VPS37A):c.539C>G (p.Ser180Cys)
|
rs778062997
|
0.00001
|
|
NM_152415.3(VPS37A):c.556C>A (p.His186Asn)
|
rs774817335
|
0.00001
|
|
NM_152415.3(VPS37A):c.560C>T (p.Thr187Ile)
|
rs759995761
|
0.00001
|
|
NM_152415.3(VPS37A):c.642+10G>A
|
rs531893337
|
0.00001
|
|
NM_152415.3(VPS37A):c.642+9C>T
|
rs1320293854
|
0.00001
|
|
NM_152415.3(VPS37A):c.643-19A>C
|
rs1253480939
|
0.00001
|
|
NM_152415.3(VPS37A):c.648C>A (p.Ser216Arg)
|
rs201069468
|
0.00001
|
|
NM_152415.3(VPS37A):c.745G>A (p.Glu249Lys)
|
rs759116675
|
0.00001
|
|
NM_152415.3(VPS37A):c.853C>G (p.Leu285Val)
|
rs771451141
|
0.00001
|
|
NM_152415.3(VPS37A):c.866G>A (p.Ser289Asn)
|
rs376210724
|
0.00001
|
|
NM_152415.3(VPS37A):c.928A>G (p.Thr310Ala)
|
rs773070587
|
0.00001
|
|
NM_183075.3(CYP2U1):c.1396C>T (p.Arg466Ter)
|
rs766380148
|
0.00001
|
|
NM_183075.3(CYP2U1):c.209G>A (p.Gly70Asp)
|
rs775828461
|
0.00001
|
|
NM_183075.3(CYP2U1):c.343G>A (p.Gly115Ser)
|
rs766889023
|
0.00001
|
|
NM_183075.3(CYP2U1):c.370C>T (p.His124Tyr)
|
rs1048541745
|
0.00001
|
|
NM_183075.3(CYP2U1):c.557G>A (p.Arg186His)
|
rs746319505
|
0.00001
|
|
NM_183075.3(CYP2U1):c.769C>T (p.Arg257Ter)
|
rs1437641531
|
0.00001
|
|
NM_183075.3(CYP2U1):c.888T>C (p.Ser296=)
|
rs369116680
|
0.00001
|
|
GRCh37/hg19 16q24.3(chr16:89611055-89617017)x0
|
|
|
|
GRCh37/hg19 1p13.3(chr1:110163633-110173775)x0
|
|
|
|
GRCh37/hg19 2p11.2(chr2:86459682-86509481)x3
|
|
|
|
GRCh37/hg19 2p22.3(chr2:32372287-32372327)x2
|
|
|
|
GRCh37/hg19 2q37.3(chr2:241737061-241932645)x1
|
|
|
|
GRCh37/hg19 6q26(chr6:162622080-162683770)x1
|
|
|
|
GRCh37/hg19 Xq22.2(chrX:102967297-103038606)x0
|
|
|
|
GRCh37/hg19 Xq22.2(chrX:103029773-103036548)x0
|
|
|
|
GRCh38/hg38 15q21.2(chr15:50923067-50925830)x0
|
|
|
|
GRCh38/hg38 9p21.3(chr9:21260106-21468754)x1
|
|
|
|
NC_000001.10:g.(?_108679275)_(111674176_?)del
|
|
|
|
NC_000001.10:g.(?_110145976)_(110173774_?)dup
|
|
|
|
NC_000001.10:g.(?_112318699)_(115576848_?)del
|
|
|
|
NC_000001.10:g.(?_17312716)_(17338233_?)dup
|
|
|
|
NC_000001.10:g.(?_17316166)_(17332293_?)del
|
|
|
|
NC_000001.10:g.(?_17316166)_(17338233_?)dup
|
|
|
|
NC_000001.10:g.(?_17330807)_(17332293_?)del
|
|
|
|
NC_000001.10:g.(?_228194830)_(228566496_?)del
|
|
|
|
NC_000001.10:g.(?_228194830)_(228566496_?)dup
|
|
|
|
NC_000001.11:g.(?_113895055)_(113900410_?)dup
|
|
|
|
NC_000001.11:g.(?_16991714)_(16992601_?)del
|
|
|
|
NC_000002.11:g.(241723234_241724405)_(241737230_241759538)del
|
|
|
|
NC_000002.11:g.(32289091_32312562)_(32958959_32999928)del
|
|
|
|
NC_000002.11:g.(32323961_32339706)_(32372328_32379442)del
|
|
|
|
NC_000002.11:g.(32341281_32352017)_(32379565_?)del
|
|
|
|
NC_000002.11:g.(32341282_32352016)_(32353549_32361631)del
|
|
|
|
NC_000002.11:g.(32341282_32352016)_(32372328_32379442)del
|
|
|
|
NC_000002.11:g.(32353549_32361631)_(32372328_32379442)del
|
|
|
|
NC_000002.11:g.(32362258_32366972)_(32370077_32372286)del
|
|
|
|
NC_000002.11:g.(32372327_32379443)_(32379565_?)del
|
|
|
|
NC_000002.11:g.(86444234_86459747)_(86459926_86479079)del
|
|
|
|
NC_000002.11:g.(86479194_86481816)_(86565146_86564634)dup
|
|
|
|
NC_000002.11:g.(86491165_86509292)_(86509366_86565146)del
|
|
|
|
NC_000002.11:g.(86491165_86509292)_(86509366_86565146)dup
|
|
|
|
NC_000002.11:g.(?_238233417)_(242800990_?)dup
|
|
|
|
NC_000002.11:g.(?_238233417)_(242801596_?)del
|
|
|
|
NC_000002.11:g.(?_241656761)_(241663473_?)dup
|
|
|
|
NC_000002.11:g.(?_241656761)_(241702528_?)dup
|
|
|
|
NC_000002.11:g.(?_241656761)_(241709143_?)del
|
|
|
|
NC_000002.11:g.(?_241656771)_(241666367_?)dup
|
|
|
|
NC_000002.11:g.(?_241656771)_(241709123_?)dup
|
|
|
|
NC_000002.11:g.(?_241656771)_(241709133_?)dup
|
|
|
|
NC_000002.11:g.(?_241656771)_241759735del
|
|
|
|
NC_000002.11:g.(?_241656780)_(241737170_?)del
|
|
|
|
NC_000002.11:g.(?_241656781)_(241686758_?)dup
|
|
|
|
NC_000002.11:g.(?_241656781)_(241689984_?)dup
|
|
|
|
NC_000002.11:g.(?_241656781)_(241709133_?)dup
|
|
|
|
NC_000002.11:g.(?_241656781)_(241709143_?)dup
|
|
|
|
NC_000002.11:g.(?_241656781)_(241728749_?)del
|
|
|
|
NC_000002.11:g.(?_241676460)_(241686758_?)del
|
|
|
|
NC_000002.11:g.(?_241676460)_(241818238_?)dup
|
|
|
|
NC_000002.11:g.(?_241676470)_(241709133_?)dup
|
|
|
|
NC_000002.11:g.(?_241679455)_(241818238_?)dup
|
|
|
|
NC_000002.11:g.(?_241679465)_(241737179_?)dup
|
|
|
|
NC_000002.11:g.(?_241696754)_(241737169_?)dup
|
|
|
|
NC_000002.11:g.(?_241702563)_(241710541_?)dup
|
|
|
|
NC_000002.11:g.(?_241721987)_(241722546_?)dup
|
|
|
|
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rs2148758232
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NC_000002.12:g.32154379_32154380insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTNNNNNNNNNNAAAAAAAAAAAAAAAAAAAATAAAAATCTAGATGAGA
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NC_000015.9:g.(?_44890443)_(44890591_?)del
|
|
|
|
NC_000015.9:g.(?_44898203)_(44907784_?)del
|
|
|
|
NC_000015.9:g.(?_44898203)_(44941229_?)del
|
|
|
|
NC_000015.9:g.(?_44898203)_(44955845_?)del
|
|
|
|
NC_000015.9:g.(?_44900622)_(44955865_?)dup
|
|
|
|
NC_000015.9:g.(?_44912368)_(44925855_?)del
|
|
|
|
NC_000015.9:g.(?_44918519)_(44921596_?)del
|
|
|
|
NC_000015.9:g.(?_44918627)_(44928701_?)del
|
|
|
|
NC_000015.9:g.(?_44921451)_(44925371_?)del
|
|
|
|
NC_000015.9:g.(?_44941044)_(44944484_?)del
|
|
|
|
NC_000015.9:g.(?_44941054)_(44944474_?)del
|
|
|
|
NC_000015.9:g.(?_44945058)_(44949397_?)del
|
|
|
|
NC_000015.9:g.(?_44955845)_(44918529_44914997)del
|
|
|
|
NC_000015.9:g.(?_50731261)_(50791295_?)dup
|
|
|
|
NC_000015.9:g.(?_50789266)_(50791305_?)dup
|
|
|
|
NC_000016.10:g.(89559945_?)_(?_89549777)del
|
|
|
|
NC_000016.10:g.(?_89508408)_(89508610_?)del
|
|
|
|
NC_000016.10:g.(?_89508408)_(89532646_?)dup
|
|
|
|
NC_000016.10:g.(?_89510480)_(89513047_?)del
|
|
|
|
NC_000016.10:g.(?_89529457)_(89529599_?)del
|
|
|
|
NC_000016.10:g.74773969_74776493del
|
|
|
|
NC_000016.9:g.(89579446_89590413)_(89611181_89613065)del
|
|
|
|
NC_000016.9:g.(89592877_89595884)_(89599045_89611055)del
|
|
|
|
NC_000016.9:g.(89595988_89597090)_(89620972_89623294)del
|
|
|
|
NC_000016.9:g.(?_18804554)_(18812808_?)dup
|
|
|
|
NC_000016.9:g.(?_89556653)_(89623501_?)del
|
|
|
|
NC_000016.9:g.(?_89574826)_(89575028_?)del
|
|
|
|
NC_000016.9:g.(?_89574826)_(89577020_?)del
|
|
|
|
NC_000016.9:g.(?_89574826)_(89579465_?)del
|
|
|
|
NC_000016.9:g.(?_89574826)_(89583809_?)dup
|
|
|
|
NC_000016.9:g.(?_89574826)_(89597236_?)del
|
|
|
|
NC_000016.9:g.(?_89574826)_(89623501_?)dup
|
|
|
|
NC_000016.9:g.(?_89576878)_(89577020_?)del
|
|
|
|
NC_000016.9:g.(?_89576878)_(89579465_?)del
|
|
|
|
NC_000016.9:g.(?_89576878)_(89579465_?)dup
|
|
|
|
NC_000016.9:g.(?_89579336)_(89579465_?)del
|
|
|
|
NC_000016.9:g.(?_89583809)_(89613188_?)dup
|
|
|
|
NC_000016.9:g.(?_89590394)_(89599064_?)del
|
|
|
|
NC_000016.9:g.(?_89595875)_(89595997_?)del
|
|
|
|
NC_000016.9:g.(?_89613046)_(89617037_?)del
|
|
|
|
NC_000016.9:g.(?_89614405)_(89617023_?)del
|
|
|
|
NC_000016.9:g.(?_89619367)_(89619563_?)del
|
|
|
|
NC_000016.9:g.(?_89619467)_(89620817_?)del
|
|
|
|
NC_000017.10:g.(4907452_4914761)_(4918508_4926045)del
|
|
|
|
NC_000017.10:g.(?_4916928)_(4927446_?)del
|
|
|
|
NC_000017.10:g.(?_4923281)_(4927456_?)del
|
|
|
|
NC_000017.10:g.(?_4926743)_(4927446_?)del
|
|
|
|
NC_000017.11:g.(?_4898726)_(5024161_?)dup
|
|
|
|
NC_000019.10:g.(?_29702692)_(29714949_?)del
|
|
|
|
NC_000019.10:g.(?_45485294_45497047_?)del
|
|
|
|
NC_000019.10:g.7535556G>A
|
rs200591590
|
|
|
NC_000019.10:g.7535557G>A
|
|
|
|
NC_000019.10:g.7535562G>A
|
|
|
|
NC_000019.10:g.7535563_7535564delinsGG
|
rs2022812491
|
|
|
NC_000019.10:g.7535564T>A
|
rs1035379229
|
|
|
NC_000019.10:g.7535573G>A
|
|
|
|
NC_000019.10:g.7535576T>C
|
|
|
|
NC_000019.10:g.7535588G>C
|
rs764534459
|
|
|
NC_000019.10:g.7535591C>A
|
|
|
|
NC_000019.10:g.7535591C>T
|
rs2022814781
|
|
|
NC_000019.10:g.7535595G>A
|
|
|
|
NC_000019.10:g.7555609dup
|
rs2146105309
|
|
|
NC_000019.9:g.(?_30193609)_(30205846_?)dup
|
|
|
|
NC_000019.9:g.(?_30205794)_(30205836_?)del
|
|
|
|
NC_000019.9:g.(?_33167170)_(36643309_?)dup
|
|
|
|
NC_000019.9:g.(?_50195510)_(50195670_?)dup
|
|
|
|
NC_000019.9:g.(?_50213557)_(50214134_?)del
|
|
|
|
NC_000019.9:g.(?_7527018)_(7624057_?)dup
|
|
|
|
NC_000019.9:g.(?_7604804)_(7607970_?)del
|
|
|
|
NC_000019.9:g.(?_7617787)_(7622096_?)del
|
|
|
|
NC_000019.9:g.(?_7618738)_(7619178_?)del
|
|
|
|
NC_000023.10:g.(?_102831398)_(103220942_?)dup
|
|
|
|
NC_000023.10:g.(?_103031003)_(103031929_?)del
|
|
|
|
NC_000023.10:g.(?_103031754)_(103047548_?)dup
|
|
|
|
NC_000023.10:g.(?_103031893)_(103045536_?)dup
|
|
|
|
NC_000023.10:g.(?_103031893)_(103045546_?)del
|
|
|
|
NC_000023.10:g.(?_103031893)_(103045546_?)dup
|
|
|
|
NC_000023.10:g.(?_103031918)_(103045531_?)dup
|
|
|
|
NC_000023.10:g.(?_103031924)_(103040717_?)dup
|
|
|
|
NC_000023.10:g.(?_103031924)_(103044347_?)dup
|
|
|
|
NC_000023.10:g.(?_103031924)_(103045526_?)del
|
|
|
|
NC_000023.10:g.(?_103031924)_(103045526_?)dup
|
|
|
|
NC_000023.10:g.(?_103040922)_(103042832_?)del
|
|
|
|
NC_000023.10:g.(?_103042707)_(103045526_?)del
|
|
|
|
NC_000023.10:g.(?_103045435)_(103045526_?)dup
|
|
|
|
NC_012920.1(MT-ATP6):m.9176T>C
|
rs199476135
|
|
|
NC_012920.1(MT-TK):m.8344A>G
|
rs118192098
|
|
|
NFU1, 1-BP DEL, 146C
|
|
|
|
NG_017070.1:g.(39810_52446)_(66877_?)del
|
|
|
|
NM_000039.3(APOA1):c.43+1G>T
|
rs2134233729
|
|
|
NM_000090.4(COL3A1):c.3572G>T (p.Gly1191Val)
|
|
|
|
NM_000090.4(COL3A1):c.898-1G>A
|
|
|
|
NM_000516.7(GNAS):c.493C>T (p.Arg165Cys)
|
rs137854532
|
|
|
NM_000533.5(PLP1):c.101G>T (p.Gly34Val)
|
|
|
|
NM_000533.5(PLP1):c.116C>A (p.Ala39Asp)
|
|
|
|
NM_000533.5(PLP1):c.120C>G (p.Leu40=)
|
|
|
|
NM_000533.5(PLP1):c.120C>T (p.Leu40=)
|
|
|
|
NM_000533.5(PLP1):c.123T>G (p.Thr41=)
|
|
|
|
NM_000533.5(PLP1):c.12A>G (p.Leu4=)
|
|
|
|
NM_000533.5(PLP1):c.138A>G (p.Leu46=)
|
|
|
|
NM_000533.5(PLP1):c.140T>C (p.Ile47Thr)
|
rs1060500909
|
|
|
NM_000533.5(PLP1):c.141T>C (p.Ile47=)
|
|
|
|
NM_000533.5(PLP1):c.142_152del (p.Glu48fs)
|
|
|
|
NM_000533.5(PLP1):c.157A>C (p.Lys53Gln)
|
rs2074490089
|
|
|
NM_000533.5(PLP1):c.169G>A (p.Asp57Asn)
|
|
|
|
NM_000533.5(PLP1):c.176_177dup (p.Tyr60fs)
|
|
|
|
NM_000533.5(PLP1):c.180T>G (p.Tyr60Ter)
|
|
|
|
NM_000533.5(PLP1):c.191+19A>G
|
rs746599075
|
|
|
NM_000533.5(PLP1):c.191+19A>T
|
|
|
|
NM_000533.5(PLP1):c.191+1G>A
|
rs886039537
|
|
|
NM_000533.5(PLP1):c.192-10G>A
|
|
|
|
NM_000533.5(PLP1):c.192-19T>A
|
rs1186006578
|
|
|
NM_000533.5(PLP1):c.192-9T>A
|
|
|
|
NM_000533.5(PLP1):c.194T>A (p.Ile65Asn)
|
rs1191076247
|
|
|
NM_000533.5(PLP1):c.194T>G (p.Ile65Ser)
|
rs1191076247
|
|
|
NM_000533.5(PLP1):c.198T>C (p.His66=)
|
|
|
|
NM_000533.5(PLP1):c.1A>G (p.Met1Val)
|
rs797045064
|
|
|
NM_000533.5(PLP1):c.1_2del (p.Met1fs)
|
|
|
|
NM_000533.5(PLP1):c.205C>T (p.Gln69Ter)
|
rs2147764198
|
|
|
NM_000533.5(PLP1):c.206A>C (p.Gln69Pro)
|
|
|
|
NM_000533.5(PLP1):c.214A>C (p.Ile72Leu)
|
|
|
|
NM_000533.5(PLP1):c.220G>T (p.Gly74Ter)
|
|
|
|
NM_000533.5(PLP1):c.232TTC[2] (p.Phe80del)
|
rs2074497991
|
|
|
NM_000533.5(PLP1):c.237C>T (p.Phe79=)
|
|
|
|
NM_000533.5(PLP1):c.245A>G (p.Tyr82Cys)
|
rs2147764248
|
|
|
NM_000533.5(PLP1):c.248G>A (p.Gly83Glu)
|
|
|
|
NM_000533.5(PLP1):c.251C>A (p.Ala84Asp)
|
|
|
|
NM_000533.5(PLP1):c.259C>T (p.Leu87=)
|
|
|
|
NM_000533.5(PLP1):c.261G>A (p.Leu87=)
|
|
|
|
NM_000533.5(PLP1):c.267G>A (p.Glu89=)
|
|
|
|
NM_000533.5(PLP1):c.270C>T (p.Gly90=)
|
|
|
|
NM_000533.5(PLP1):c.279C>A (p.Thr93=)
|
|
|
|
NM_000533.5(PLP1):c.279C>T (p.Thr93=)
|
|
|
|
NM_000533.5(PLP1):c.27_34dup (p.Val12fs)
|
rs2147762900
|
|
|
NM_000533.5(PLP1):c.282C>T (p.Thr94=)
|
|
|
|
NM_000533.5(PLP1):c.291C>G (p.Val97=)
|
rs2147764368
|
|
|
NM_000533.5(PLP1):c.2T>C (p.Met1Thr)
|
rs864622194
|
|
|
NM_000533.5(PLP1):c.2T>G (p.Met1Arg)
|
rs864622194
|
|
|
NM_000533.5(PLP1):c.30T>C (p.Cys10=)
|
|
|
|
NM_000533.5(PLP1):c.312C>T (p.Tyr104=)
|
|
|
|
NM_000533.5(PLP1):c.327C>T (p.Cys109=)
|
|
|
|
NM_000533.5(PLP1):c.336C>T (p.Gly112=)
|
|
|
|
NM_000533.5(PLP1):c.345A>G (p.Ala115=)
|
|
|
|
NM_000533.5(PLP1):c.354_355del (p.Gly120fs)
|
rs1556267123
|
|
|
NM_000533.5(PLP1):c.357G>C (p.Gly119=)
|
rs1444031037
|
|
|
NM_000533.5(PLP1):c.361C>T (p.Gln121Ter)
|
|
|
|
NM_000533.5(PLP1):c.365A>G (p.Lys122Arg)
|
rs1135401759
|
|
|
NM_000533.5(PLP1):c.374dup (p.Ser126fs)
|
|
|
|
NM_000533.5(PLP1):c.378C>T (p.Ser126=)
|
|
|
|
NM_000533.5(PLP1):c.380G>C (p.Arg127Thr)
|
rs1556267201
|
|
|
NM_000533.5(PLP1):c.388C>A (p.His130Asn)
|
|
|
|
NM_000533.5(PLP1):c.388C>T (p.His130Tyr)
|
rs878853076
|
|
|
NM_000533.5(PLP1):c.398A>T (p.His133Leu)
|
|
|
|
NM_000533.5(PLP1):c.39G>C (p.Gly13=)
|
|
|
|
NM_000533.5(PLP1):c.3G>A (p.Met1Ile)
|
rs132630290
|
|
|
NM_000533.5(PLP1):c.4+16T>C
|
|
|
|
NM_000533.5(PLP1):c.4+1G>A
|
rs2147752783
|
|
|
NM_000533.5(PLP1):c.4+1G>T
|
|
|
|
NM_000533.5(PLP1):c.4+1del
|
rs1602373055
|
|
|
NM_000533.5(PLP1):c.4+4A>C
|
|
|
|
NM_000533.5(PLP1):c.401C>T (p.Ser134Phe)
|
rs1569427673
|
|
|
NM_000533.5(PLP1):c.406G>T (p.Glu136Ter)
|
|
|
|
NM_000533.5(PLP1):c.408G>A (p.Glu136=)
|
|
|
|
NM_000533.5(PLP1):c.409C>G (p.Arg137Gly)
|
|
|
|
NM_000533.5(PLP1):c.409C>T (p.Arg137Trp)
|
rs132630295
|
|
|
NM_000533.5(PLP1):c.413T>C (p.Val138Ala)
|
|
|
|
NM_000533.5(PLP1):c.415_418delinsAGT (p.Cys139fs)
|
rs1556267287
|
|
|
NM_000533.5(PLP1):c.416_417del (p.Cys139fs)
|
rs2147764567
|
|
|
NM_000533.5(PLP1):c.418C>T (p.His140Tyr)
|
rs132630287
|
|
|
NM_000533.5(PLP1):c.41C>A (p.Ala14Asp)
|
rs1569427243
|
|
|
NM_000533.5(PLP1):c.423_426del (p.Cys141fs)
|
rs2147764593
|
|
|
NM_000533.5(PLP1):c.426G>A (p.Leu142=)
|
|
|
|
NM_000533.5(PLP1):c.428del (p.Gly143fs)
|
rs2147764596
|
|
|
NM_000533.5(PLP1):c.434G>A (p.Trp145Ter)
|
rs132630292
|
|
|
NM_000533.5(PLP1):c.435G>A (p.Trp145Ter)
|
|
|
|
NM_000533.5(PLP1):c.436C>T (p.Leu146=)
|
rs2147764616
|
|
|
NM_000533.5(PLP1):c.43C>T (p.Pro15Ser)
|
|
|
|
NM_000533.5(PLP1):c.441A>C (p.Gly147=)
|
rs1602383021
|
|
|
NM_000533.5(PLP1):c.441A>T (p.Gly147=)
|
rs1602383021
|
|
|
NM_000533.5(PLP1):c.442C>T (p.His148Tyr)
|
rs2147764634
|
|
|
NM_000533.5(PLP1):c.446C>T (p.Pro149Leu)
|
|
|
|
NM_000533.5(PLP1):c.44C>T (p.Pro15Leu)
|
rs11543022
|
|
|
NM_000533.5(PLP1):c.453+16A>G
|
|
|
|
NM_000533.5(PLP1):c.453+1G>T
|
rs113345335
|
|
|
NM_000533.5(PLP1):c.453+37G>T
|
rs2074500948
|
|
|
NM_000533.5(PLP1):c.453+43G>A
|
|
|
|
NM_000533.5(PLP1):c.453+43del
|
|
|
|
NM_000533.5(PLP1):c.453+44A>G
|
|
|
|
NM_000533.5(PLP1):c.453+8T>C
|
|
|
|
NM_000533.5(PLP1):c.453+9C>T
|
|
|
|
NM_000533.5(PLP1):c.453G>A (p.Lys151=)
|
rs886044450
|
|
|
NM_000533.5(PLP1):c.454-15T>C
|
|
|
|
NM_000533.5(PLP1):c.454-16A>C
|
|
|
|
NM_000533.5(PLP1):c.454-16A>G
|
|
|
|
NM_000533.5(PLP1):c.454-314T>G
|
rs2074506871
|
|
|
NM_000533.5(PLP1):c.460G>A (p.Gly154Ser)
|
|
|
|
NM_000533.5(PLP1):c.464T>A (p.Ile155Asn)
|
rs2147765890
|
|
|
NM_000533.5(PLP1):c.475C>T (p.Leu159=)
|
|
|
|
NM_000533.5(PLP1):c.480C>T (p.Thr160=)
|
|
|
|
NM_000533.5(PLP1):c.485T>C (p.Val162Ala)
|
rs1556268920
|
|
|
NM_000533.5(PLP1):c.486G>A (p.Val162=)
|
|
|
|
NM_000533.5(PLP1):c.489G>A (p.Trp163Ter)
|
rs1602384101
|
|
|
NM_000533.5(PLP1):c.489G>C (p.Trp163Cys)
|
|
|
|
NM_000533.5(PLP1):c.49G>A (p.Ala17Thr)
|
rs797045890
|
|
|
NM_000533.5(PLP1):c.5-10T>A
|
rs1297211772
|
|
|
NM_000533.5(PLP1):c.5-12C>T
|
|
|
|
NM_000533.5(PLP1):c.5-13dup
|
|
|
|
NM_000533.5(PLP1):c.5-14T>C
|
|
|
|
NM_000533.5(PLP1):c.5-15C>G
|
|
|
|
NM_000533.5(PLP1):c.5-16C>A
|
|
|
|
NM_000533.5(PLP1):c.5-17C>T
|
|
|
|
NM_000533.5(PLP1):c.5-1G>A
|
|
|
|
NM_000533.5(PLP1):c.5-6C>T
|
|
|
|
NM_000533.5(PLP1):c.5-8T>C
|
|
|
|
NM_000533.5(PLP1):c.5-9C>G
|
|
|
|
NM_000533.5(PLP1):c.509C>T (p.Ser170Phe)
|
rs132630294
|
|
|
NM_000533.5(PLP1):c.522G>A (p.Val174=)
|
|
|
|
NM_000533.5(PLP1):c.531C>T (p.Tyr177=)
|
|
|
|
NM_000533.5(PLP1):c.533T>G (p.Phe178Cys)
|
|
|
|
NM_000533.5(PLP1):c.541T>G (p.Trp181Gly)
|
|
|
|
NM_000533.5(PLP1):c.546C>T (p.Thr182=)
|
|
|
|
NM_000533.5(PLP1):c.548C>A (p.Thr183Asn)
|
rs2147766068
|
|
|
NM_000533.5(PLP1):c.553C>T (p.Gln185Ter)
|
|
|
|
NM_000533.5(PLP1):c.560T>C (p.Ile187Thr)
|
rs132630288
|
|
|
NM_000533.5(PLP1):c.560T>G (p.Ile187Ser)
|
rs132630288
|
|
|
NM_000533.5(PLP1):c.564C>T (p.Ala188=)
|
|
|
|
NM_000533.5(PLP1):c.578C>A (p.Thr193Asn)
|
|
|
|
NM_000533.5(PLP1):c.583G>T (p.Ala195Ser)
|
|
|
|
NM_000533.5(PLP1):c.584C>T (p.Ala195Val)
|
|
|
|
NM_000533.5(PLP1):c.586A>G (p.Ser196Gly)
|
|
|
|
NM_000533.5(PLP1):c.588dup (p.Ile197fs)
|
|
|
|
NM_000533.5(PLP1):c.597T>C (p.Ser199=)
|
|
|
|
NM_000533.5(PLP1):c.5G>A (p.Gly2Asp)
|
|
|
|
NM_000533.5(PLP1):c.608A>G (p.Asp203Gly)
|
|
|
|
NM_000533.5(PLP1):c.614G>A (p.Arg205Lys)
|
rs2147766283
|
|
|
NM_000533.5(PLP1):c.615A>G (p.Arg205=)
|
|
|
|
NM_000533.5(PLP1):c.622+1G>A
|
|
|
|
NM_000533.5(PLP1):c.622+8A>G
|
|
|
|
NM_000533.5(PLP1):c.623-13G>T
|
|
|
|
NM_000533.5(PLP1):c.623-19C>T
|
|
|
|
NM_000533.5(PLP1):c.634T>C (p.Trp212Arg)
|
rs2147766937
|
|
|
NM_000533.5(PLP1):c.63C>T (p.Ala21=)
|
|
|
|
NM_000533.5(PLP1):c.642T>C (p.Ala214=)
|
|
|
|
NM_000533.5(PLP1):c.647C>T (p.Pro216Leu)
|
rs2147766958
|
|
|
NM_000533.5(PLP1):c.649G>A (p.Gly217Ser)
|
rs2147766965
|
|
|
NM_000533.5(PLP1):c.650G>A (p.Gly217Asp)
|
rs786205605
|
|
|
NM_000533.5(PLP1):c.651C>T (p.Gly217=)
|
|
|
|
NM_000533.5(PLP1):c.661G>A (p.Gly221Ser)
|
rs132630286
|
|
|
NM_000533.5(PLP1):c.669C>A (p.Asn223Lys)
|
|
|
|
NM_000533.5(PLP1):c.669C>G (p.Asn223Lys)
|
|
|
|
NM_000533.5(PLP1):c.669C>T (p.Asn223=)
|
|
|
|
NM_000533.5(PLP1):c.670C>A (p.Leu224Ile)
|
rs2074517785
|
|
|
NM_000533.5(PLP1):c.670C>T (p.Leu224Phe)
|
|
|
|
NM_000533.5(PLP1):c.671T>C (p.Leu224Pro)
|
rs132630283
|
|
|
NM_000533.5(PLP1):c.674T>C (p.Leu225Pro)
|
|
|
|
NM_000533.5(PLP1):c.676T>C (p.Ser226Pro)
|
|
|
|
NM_000533.5(PLP1):c.677C>G (p.Ser226Cys)
|
rs746949269
|
|
|
NM_000533.5(PLP1):c.680T>A (p.Ile227Asn)
|
|
|
|
NM_000533.5(PLP1):c.689C>G (p.Thr230Arg)
|
rs1556270495
|
|
|
NM_000533.5(PLP1):c.696+17G>T
|
|
|
|
NM_000533.5(PLP1):c.696+1G>A
|
rs113897548
|
|
|
NM_000533.5(PLP1):c.696+3G>A
|
|
|
|
NM_000533.5(PLP1):c.697-12A>C
|
|
|
|
NM_000533.5(PLP1):c.697-12A>G
|
|
|
|
NM_000533.5(PLP1):c.697-1G>A
|
|
|
|
NM_000533.5(PLP1):c.697-3C>T
|
|
|
|
NM_000533.5(PLP1):c.698T>C (p.Phe233Ser)
|
|
|
|
NM_000533.5(PLP1):c.701A>T (p.Gln234Leu)
|
rs1060500908
|
|
|
NM_000533.5(PLP1):c.708C>T (p.Thr236=)
|
|
|
|
NM_000533.5(PLP1):c.710T>C (p.Phe237Ser)
|
rs132630291
|
|
|
NM_000533.5(PLP1):c.712_713insTGCAGTTCCAAATG (p.His238fs)
|
rs1602385672
|
|
|
NM_000533.5(PLP1):c.734T>A (p.Val245Glu)
|
rs2147768009
|
|
|
NM_000533.5(PLP1):c.735G>C (p.Val245=)
|
|
|
|
NM_000533.5(PLP1):c.735G>T (p.Val245=)
|
|
|
|
NM_000533.5(PLP1):c.736G>A (p.Gly246Arg)
|
rs2147768028
|
|
|
NM_000533.5(PLP1):c.736G>C (p.Gly246Arg)
|
|
|
|
NM_000533.5(PLP1):c.737G>C (p.Gly246Ala)
|
rs398123467
|
|
|
NM_000533.5(PLP1):c.744A>T (p.Ala248=)
|
|
|
|
NM_000533.5(PLP1):c.762+5G>A
|
|
|
|
NM_000533.5(PLP1):c.762+9A>G
|
|
|
|
NM_000533.5(PLP1):c.763-16C>T
|
|
|
|
NM_000533.5(PLP1):c.763-17_763-14del
|
rs2147769185
|
|
|
NM_000533.5(PLP1):c.763C>T (p.Leu255Phe)
|
rs2147769209
|
|
|
NM_000533.5(PLP1):c.766A>C (p.Thr256Pro)
|
|
|
|
NM_000533.5(PLP1):c.785C>G (p.Thr262Ser)
|
rs2074536435
|
|
|
NM_000533.5(PLP1):c.788A>G (p.Tyr263Cys)
|
rs2074536482
|
|
|
NM_000533.5(PLP1):c.788_794del (p.Tyr263fs)
|
rs2147769222
|
|
|
NM_000533.5(PLP1):c.789C>G (p.Tyr263Ter)
|
|
|
|
NM_000533.5(PLP1):c.795T>C (p.Phe265=)
|
|
|
|
NM_000533.5(PLP1):c.798C>T (p.Ala266=)
|
|
|
|
NM_000533.5(PLP1):c.801C>T (p.Val267=)
|
|
|
|
NM_000533.5(PLP1):c.817C>T (p.Arg273Ter)
|
rs1556273167
|
|
|
NM_000533.5(PLP1):c.834A>T (p.Ter278Cys)
|
|
|
|
NM_000533.5(PLP1):c.85G>T (p.Val29Leu)
|
rs1376158201
|
|
|
NM_000533.5(PLP1):c.95T>C (p.Phe32Ser)
|
|
|
|
NM_000533.5(PLP1):c.98G>T (p.Cys33Phe)
|
rs1064794255
|
|
|
NM_000533.5(PLP1):c.99T>C (p.Cys33=)
|
|
|
|
NM_000817.3(GAD1):c.1252G>T (p.Val418Phe)
|
rs143058194
|
|
|
NM_001002755.4(NFU1):c.263T>C (p.Phe88Ser)
|
|
|
|
NM_001002755.4(NFU1):c.295C>G (p.Leu99Val)
|
|
|
|
NM_001002755.4(NFU1):c.298G>C (p.Ala100Pro)
|
rs1279585557
|
|
|
NM_001002755.4(NFU1):c.301A>G (p.Arg101Gly)
|
rs2104792930
|
|
|
NM_001002755.4(NFU1):c.362T>C (p.Val121Ala)
|
|
|
|
NM_001002755.4(NFU1):c.548C>G (p.Pro183Arg)
|
rs1156891721
|
|
|
NM_001002755.4(NFU1):c.565G>A (p.Gly189Arg)
|
rs2104735490
|
|
|
NM_001002755.4(NFU1):c.721G>C (p.Val241Leu)
|
|
|
|
NM_001003800.2(BICD2):c.1523A>C (p.Lys508Thr)
|
rs398123031
|
|
|
NM_001003800.2(BICD2):c.761A>G (p.Lys254Arg)
|
rs1367809298
|
|
|
NM_001010867.4(IBA57):c.1005C>T (p.Ala335=)
|
|
|
|
NM_001010867.4(IBA57):c.1033G>A (p.Ala345Thr)
|
rs150912462
|
|
|
NM_001010867.4(IBA57):c.1033G>T (p.Ala345Ser)
|
rs150912462
|
|
|
NM_001010867.4(IBA57):c.1041G>T (p.Val347=)
|
|
|
|
NM_001010867.4(IBA57):c.1042C>G (p.Pro348Ala)
|
|
|
|
NM_001010867.4(IBA57):c.1055C>T (p.Pro352Leu)
|
|
|
|
NM_001010867.4(IBA57):c.1065del (p.Lys356fs)
|
rs2124977415
|
|
|
NM_001010867.4(IBA57):c.110G>T (p.Ser37Ile)
|
|
|
|
NM_001010867.4(IBA57):c.116G>A (p.Gly39Asp)
|
|
|
|
NM_001010867.4(IBA57):c.143G>A (p.Trp48Ter)
|
|
|
|
NM_001010867.4(IBA57):c.147C>G (p.Ala49=)
|
|
|
|
NM_001010867.4(IBA57):c.156G>A (p.Arg52=)
|
rs1571913232
|
|
|
NM_001010867.4(IBA57):c.157C>T (p.Leu53=)
|
|
|
|
NM_001010867.4(IBA57):c.159G>A (p.Leu53=)
|
|
|
|
NM_001010867.4(IBA57):c.169A>G (p.Thr57Ala)
|
|
|
|
NM_001010867.4(IBA57):c.172C>G (p.Leu58Val)
|
|
|
|
NM_001010867.4(IBA57):c.172C>T (p.Leu58=)
|
|
|
|
NM_001010867.4(IBA57):c.173T>C (p.Leu58Pro)
|
|
|
|
NM_001010867.4(IBA57):c.193_203dup (p.Phe69fs)
|
|
|
|
NM_001010867.4(IBA57):c.195C>T (p.Asp65=)
|
|
|
|
NM_001010867.4(IBA57):c.208C>T (p.Leu70=)
|
|
|
|
NM_001010867.4(IBA57):c.215G>C (p.Gly72Ala)
|
rs1420144150
|
|
|
NM_001010867.4(IBA57):c.232C>G (p.Leu78Val)
|
rs1022779300
|
|
|
NM_001010867.4(IBA57):c.245G>C (p.Ser82Thr)
|
|
|
|
NM_001010867.4(IBA57):c.253_276del (p.Ala85_Ala92del)
|
|
|
|
NM_001010867.4(IBA57):c.255C>T (p.Ala85=)
|
|
|
|
NM_001010867.4(IBA57):c.262dup (p.Ala88fs)
|
rs1558123212
|
|
|
NM_001010867.4(IBA57):c.264C>T (p.Ala88=)
|
|
|
|
NM_001010867.4(IBA57):c.265_286dup (p.Tyr96fs)
|
rs2034846986
|
|
|
NM_001010867.4(IBA57):c.269C>T (p.Pro90Leu)
|
|
|
|
NM_001010867.4(IBA57):c.26G>T (p.Gly9Val)
|
|
|
|
NM_001010867.4(IBA57):c.272C>G (p.Ala91Gly)
|
rs539907686
|
|
|
NM_001010867.4(IBA57):c.27C>T (p.Gly9=)
|
|
|
|
NM_001010867.4(IBA57):c.284_285insT (p.Tyr96fs)
|
|
|
|
NM_001010867.4(IBA57):c.285C>A (p.Gly95=)
|
|
|
|
NM_001010867.4(IBA57):c.285C>T (p.Gly95=)
|
rs1276192566
|
|
|
NM_001010867.4(IBA57):c.286T>C (p.Tyr96His)
|
rs765926471
|
|
|
NM_001010867.4(IBA57):c.287A>G (p.Tyr96Cys)
|
|
|
|
NM_001010867.4(IBA57):c.298C>T (p.Leu100=)
|
rs12132960
|
|
|
NM_001010867.4(IBA57):c.304G>A (p.Val102Met)
|
rs753218907
|
|
|
NM_001010867.4(IBA57):c.305T>C (p.Val102Ala)
|
rs759005478
|
|
|
NM_001010867.4(IBA57):c.30C>T (p.Ala10=)
|
|
|
|
NM_001010867.4(IBA57):c.315G>A (p.Arg105=)
|
|
|
|
NM_001010867.4(IBA57):c.316A>T (p.Thr106Ser)
|
|
|
|
NM_001010867.4(IBA57):c.319C>T (p.Leu107Phe)
|
|
|
|
NM_001010867.4(IBA57):c.31A>T (p.Thr11Ser)
|
rs2034839816
|
|
|
NM_001010867.4(IBA57):c.326A>G (p.Asp109Gly)
|
|
|
|
NM_001010867.4(IBA57):c.335T>A (p.Leu112Ter)
|
rs775646159
|
|
|
NM_001010867.4(IBA57):c.339C>G (p.Tyr113Ter)
|
|
|
|
NM_001010867.4(IBA57):c.339C>T (p.Tyr113=)
|
|
|
|
NM_001010867.4(IBA57):c.33T>A (p.Thr11=)
|
|
|
|
NM_001010867.4(IBA57):c.341+1G>A
|
rs1250537283
|
|
|
NM_001010867.4(IBA57):c.341+1G>T
|
rs1250537283
|
|
|
NM_001010867.4(IBA57):c.341+20G>A
|
|
|
|
NM_001010867.4(IBA57):c.341+2T>G
|
|
|
|
NM_001010867.4(IBA57):c.341+4A>C
|
|
|
|
NM_001010867.4(IBA57):c.342-14CT[2]
|
|
|
|
NM_001010867.4(IBA57):c.342-15C>T
|
|
|
|
NM_001010867.4(IBA57):c.342-488_361del
|
|
|
|
NM_001010867.4(IBA57):c.342-4_342-3delinsAA
|
|
|
|
NM_001010867.4(IBA57):c.342G>C (p.Gly114=)
|
|
|
|
NM_001010867.4(IBA57):c.354C>A (p.His118Gln)
|
rs1315886237
|
|
|
NM_001010867.4(IBA57):c.372C>T (p.Phe124=)
|
|
|
|
NM_001010867.4(IBA57):c.373C>T (p.Leu125Phe)
|
|
|
|
NM_001010867.4(IBA57):c.376C>T (p.Leu126=)
|
|
|
|
NM_001010867.4(IBA57):c.384dup (p.Asp129Ter)
|
rs1571918251
|
|
|
NM_001010867.4(IBA57):c.390C>G (p.Ser130Arg)
|
|
|
|
NM_001010867.4(IBA57):c.399G>A (p.Gln133=)
|
|
|
|
NM_001010867.4(IBA57):c.39G>A (p.Gly13=)
|
|
|
|
NM_001010867.4(IBA57):c.402C>A (p.Gly134=)
|
|
|
|
NM_001010867.4(IBA57):c.420C>G (p.Leu140=)
|
rs555630458
|
|
|
NM_001010867.4(IBA57):c.420C>T (p.Leu140=)
|
rs555630458
|
|
|
NM_001010867.4(IBA57):c.421_422delinsAG (p.Ala141Arg)
|
rs2124976596
|
|
|
NM_001010867.4(IBA57):c.434T>C (p.Ile145Thr)
|
rs2034983313
|
|
|
NM_001010867.4(IBA57):c.435C>A (p.Ile145=)
|
|
|
|
NM_001010867.4(IBA57):c.439C>T (p.Arg147Trp)
|
|
|
|
NM_001010867.4(IBA57):c.454G>T (p.Glu152Ter)
|
|
|
|
NM_001010867.4(IBA57):c.459G>A (p.Pro153=)
|
|
|
|
NM_001010867.4(IBA57):c.465G>C (p.Pro155=)
|
|
|
|
NM_001010867.4(IBA57):c.480_481dup (p.Ala161fs)
|
|
|
|
NM_001010867.4(IBA57):c.483G>T (p.Ala161=)
|
|
|
|
NM_001010867.4(IBA57):c.488T>C (p.Leu163Ser)
|
rs2124976694
|
|
|
NM_001010867.4(IBA57):c.493A>G (p.Ser165Gly)
|
|
|
|
NM_001010867.4(IBA57):c.494G>A (p.Ser165Asn)
|
|
|
|
NM_001010867.4(IBA57):c.506C>T (p.Ala169Val)
|
|
|
|
NM_001010867.4(IBA57):c.511G>A (p.Gly171Arg)
|
|
|
|
NM_001010867.4(IBA57):c.522G>A (p.Ser174=)
|
|
|
|
NM_001010867.4(IBA57):c.535G>T (p.Ala179Ser)
|
|
|
|
NM_001010867.4(IBA57):c.537A>C (p.Ala179=)
|
|
|
|
NM_001010867.4(IBA57):c.54C>T (p.Val18=)
|
|
|
|
NM_001010867.4(IBA57):c.567G>T (p.Pro189=)
|
rs764091126
|
|
|
NM_001010867.4(IBA57):c.576A>C (p.Ala192=)
|
|
|
|
NM_001010867.4(IBA57):c.585G>A (p.Gly195=)
|
rs2124976810
|
|
|
NM_001010867.4(IBA57):c.594C>T (p.Leu198=)
|
|
|
|
NM_001010867.4(IBA57):c.599C>G (p.Thr200Ser)
|
rs149136930
|
|
|
NM_001010867.4(IBA57):c.612C>G (p.Gly204=)
|
|
|
|
NM_001010867.4(IBA57):c.633C>T (p.Gly211=)
|
|
|
|
NM_001010867.4(IBA57):c.640G>A (p.Gly214Arg)
|
|
|
|
NM_001010867.4(IBA57):c.664C>G (p.His222Asp)
|
rs1131691510
|
|
|
NM_001010867.4(IBA57):c.668G>A (p.Arg223Gln)
|
|
|
|
NM_001010867.4(IBA57):c.678A>G (p.Gln226=)
|
rs876657407
|
|
|
NM_001010867.4(IBA57):c.680-11A>G
|
|
|
|
NM_001010867.4(IBA57):c.680-15del
|
|
|
|
NM_001010867.4(IBA57):c.680-16C>A
|
|
|
|
NM_001010867.4(IBA57):c.680-18C>G
|
|
|
|
NM_001010867.4(IBA57):c.680-6C>T
|
|
|
|
NM_001010867.4(IBA57):c.682G>C (p.Val228Leu)
|
rs777266229
|
|
|
NM_001010867.4(IBA57):c.693G>A (p.Gly231=)
|
|
|
|
NM_001010867.4(IBA57):c.696C>A (p.Val232=)
|
|
|
|
NM_001010867.4(IBA57):c.720C>T (p.Ala240=)
|
|
|
|
NM_001010867.4(IBA57):c.737A>G (p.Asn246Ser)
|
|
|
|
NM_001010867.4(IBA57):c.739C>T (p.Leu247=)
|
|
|
|
NM_001010867.4(IBA57):c.74_75del (p.Ala25fs)
|
|
|
|
NM_001010867.4(IBA57):c.753C>T (p.Asn251=)
|
|
|
|
NM_001010867.4(IBA57):c.768C>T (p.Thr256=)
|
rs760717161
|
|
|
NM_001010867.4(IBA57):c.781A>C (p.Ile261Leu)
|
|
|
|
NM_001010867.4(IBA57):c.78C>T (p.Ala26=)
|
|
|
|
NM_001010867.4(IBA57):c.790G>A (p.Glu264Lys)
|
|
|
|
NM_001010867.4(IBA57):c.79C>A (p.Pro27Thr)
|
|
|
|
NM_001010867.4(IBA57):c.802C>T (p.Arg268Cys)
|
rs1332185635
|
|
|
NM_001010867.4(IBA57):c.814A>G (p.Met272Val)
|
|
|
|
NM_001010867.4(IBA57):c.825C>T (p.Ile275=)
|
|
|
|
NM_001010867.4(IBA57):c.82A>G (p.Arg28Gly)
|
|
|
|
NM_001010867.4(IBA57):c.84G>A (p.Arg28=)
|
|
|
|
NM_001010867.4(IBA57):c.851T>C (p.Phe284Ser)
|
|
|
|
NM_001010867.4(IBA57):c.893C>T (p.Thr298Met)
|
rs375395876
|
|
|
NM_001010867.4(IBA57):c.89G>A (p.Arg30His)
|
rs2034841698
|
|
|
NM_001010867.4(IBA57):c.906C>G (p.Ala302=)
|
|
|
|
NM_001010867.4(IBA57):c.913C>T (p.Gln305Ter)
|
|
|
|
NM_001010867.4(IBA57):c.931A>G (p.Arg311Gly)
|
|
|
|
NM_001010867.4(IBA57):c.932G>C (p.Arg311Thr)
|
rs1377813001
|
|
|
NM_001010867.4(IBA57):c.935del (p.Ala312fs)
|
|
|
|
NM_001010867.4(IBA57):c.948C>T (p.Asn316=)
|
|
|
|
NM_001010867.4(IBA57):c.94G>A (p.Ala32Thr)
|
|
|
|
NM_001010867.4(IBA57):c.961C>T (p.Leu321=)
|
rs376206530
|
|
|
NM_001010867.4(IBA57):c.970T>G (p.Ser324Ala)
|
|
|
|
NM_001010867.4(IBA57):c.979A>T (p.Ile327Phe)
|
|
|
|
NM_001010867.4(IBA57):c.987T>G (p.Gly329=)
|
|
|
|
NM_001010867.4(IBA57):c.988C>T (p.Pro330Ser)
|
|
|
|
NM_001010867.4(IBA57):c.989C>G (p.Pro330Arg)
|
rs918873125
|
|
|
NM_001010867.4(IBA57):c.996C>T (p.His332=)
|
|
|
|
NM_001011658.4(TRAPPC2):c.271_275del (p.Gln91fs)
|
rs587776751
|
|
|
NM_001015877.2(PHF6):c.2T>C (p.Met1Thr)
|
rs132630300
|
|
|
NM_001031726.3(C19orf12):c.199dup
|
rs398122409
|
|
|
NM_001031726.4(C19orf12):c.164_166delGGG
|
rs398122409
|
|
|
NM_001034850.3(RETREG1):c.291_314del (p.Gly98_Leu105del)
|
rs2126387383
|
|
|
NM_001048174.2(MUTYH):c.1053del (p.Gln351fs)
|
|
|
|
NM_001083962.2(TCF4):c.1146+2T>C
|
|
|
|
NM_001122955.4(BSCL2):c.-1_1inv (p.Met1Leu)
|
|
|
|
NM_001122955.4(BSCL2):c.1005+3C>T
|
rs372166360
|
|
|
NM_001122955.4(BSCL2):c.1028A>G (p.Asn343Ser)
|
rs1440384464
|
|
|
NM_001122955.4(BSCL2):c.1048C>T (p.Arg350Ter)
|
|
|
|
NM_001122955.4(BSCL2):c.1097C>G (p.Thr366Ser)
|
rs1424325463
|
|
|
NM_001122955.4(BSCL2):c.1108G>C (p.Asp370His)
|
|
|
|
NM_001122955.4(BSCL2):c.1120G>C (p.Asp374His)
|
rs778455259
|
|
|
NM_001122955.4(BSCL2):c.1180C>A (p.Pro394Thr)
|
|
|
|
NM_001122955.4(BSCL2):c.1192C>G (p.Pro398Ala)
|
|
|
|
NM_001122955.4(BSCL2):c.1214T>A (p.Leu405Gln)
|
|
|
|
NM_001122955.4(BSCL2):c.1244C>T (p.Ser415Phe)
|
rs1590868109
|
|
|
NM_001122955.4(BSCL2):c.1271del (p.Glu424fs)
|
|
|
|
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>C (p.Ser434Pro)
|
rs199584887
|
|
|
NM_001122955.4(BSCL2):c.1300T>G (p.Ser434Ala)
|
rs199584887
|
|
|
NM_001122955.4(BSCL2):c.1310C>T (p.Ala437Val)
|
rs751558047
|
|
|
NM_001122955.4(BSCL2):c.1325C>T (p.Thr442Ile)
|
rs876661160
|
|
|
NM_001122955.4(BSCL2):c.1345G>C (p.Ala449Pro)
|
|
|
|
NM_001122955.4(BSCL2):c.1361_1386del (p.Arg454fs)
|
rs779154593
|
|
|
NM_001122955.4(BSCL2):c.1385C>A (p.Ser462Tyr)
|
rs1945271930
|
|
|
NM_001122955.4(BSCL2):c.224T>C (p.Leu75Pro)
|
|
|
|
NM_001122955.4(BSCL2):c.260G>A (p.Arg87His)
|
|
|
|
NM_001122955.4(BSCL2):c.270_271delinsTT (p.Arg90Ser)
|
|
|
|
NM_001122955.4(BSCL2):c.281A>T (p.Gln94Leu)
|
rs2134740707
|
|
|
NM_001122955.4(BSCL2):c.329T>G (p.Val110Gly)
|
|
|
|
NM_001122955.4(BSCL2):c.350A>G (p.Tyr117Cys)
|
|
|
|
NM_001122955.4(BSCL2):c.356C>G (p.Ser119Cys)
|
|
|
|
NM_001122955.4(BSCL2):c.359A>T (p.Tyr120Phe)
|
rs370905417
|
|
|
NM_001122955.4(BSCL2):c.367A>T (p.Thr123Ser)
|
rs1349958377
|
|
|
NM_001122955.4(BSCL2):c.405-21TCC[2]
|
rs768556778
|
|
|
NM_001122955.4(BSCL2):c.461C>G (p.Ser154Trp)
|
rs137852973
|
|
|
NM_001122955.4(BSCL2):c.478C>T (p.Arg160Cys)
|
rs772536764
|
|
|
NM_001122955.4(BSCL2):c.479G>A (p.Arg160His)
|
|
|
|
NM_001122955.4(BSCL2):c.487-20A>T
|
rs115756273
|
|
|
NM_001122955.4(BSCL2):c.500G>A (p.Gly167Glu)
|
|
|
|
NM_001122955.4(BSCL2):c.512_519del (p.Arg171fs)
|
|
|
|
NM_001122955.4(BSCL2):c.617C>T (p.Thr206Ile)
|
|
|
|
NM_001122955.4(BSCL2):c.630G>A (p.Ser210=)
|
rs150158560
|
|
|
NM_001122955.4(BSCL2):c.631-8C>T
|
rs1196120956
|
|
|
NM_001122955.4(BSCL2):c.646C>T (p.Arg216Cys)
|
|
|
|
NM_001122955.4(BSCL2):c.766-1G>A
|
|
|
|
NM_001122955.4(BSCL2):c.779C>G (p.Thr260Ser)
|
|
|
|
NM_001122955.4(BSCL2):c.806A>G (p.Lys269Arg)
|
rs781217574
|
|
|
NM_001122955.4(BSCL2):c.809G>T (p.Arg270Leu)
|
rs763884653
|
|
|
NM_001122955.4(BSCL2):c.825dup (p.Ala276fs)
|
|
|
|
NM_001122955.4(BSCL2):c.829T>C (p.Tyr277His)
|
|
|
|
NM_001122955.4(BSCL2):c.836G>A (p.Arg279His)
|
|
|
|
NM_001122955.4(BSCL2):c.843C>G (p.His281Gln)
|
|
|
|
NM_001122955.4(BSCL2):c.856G>A (p.Gly286Arg)
|
|
|
|
NM_001122955.4(BSCL2):c.863+5G>A
|
rs786205072
|
|
|
NM_001122955.4(BSCL2):c.864-2A>G
|
rs766061024
|
|
|
NM_001122955.4(BSCL2):c.864A>G (p.Arg288=)
|
|
|
|
NM_001122955.4(BSCL2):c.88-663G>A
|
rs117862461
|
|
|
NM_001122955.4(BSCL2):c.894C>T (p.Cys298=)
|
|
|
|
NM_001122955.4(BSCL2):c.921C>A (p.Phe307Leu)
|
|
|
|
NM_001122955.4(BSCL2):c.968G>T (p.Trp323Leu)
|
rs367783346
|
|
|
NM_001122955.4(BSCL2):c.974G>T (p.Gly325Val)
|
|
|
|
NM_001122955.4(BSCL2):c.974dup (p.Ile326fs)
|
rs749890533
|
|
|
NM_001127713.1(ATL1):c.-139-16C>G
|
rs886050530
|
|
|
NM_001128126.3(AP4S1):c.124C>T (p.Arg42Ter)
|
rs387906970
|
|
|
NM_001128126.3(AP4S1):c.138+3_138+6del
|
rs876661295
|
|
|
NM_001128126.3(AP4S1):c.138+63G>C
|
rs6571386
|
|
|
NM_001128126.3(AP4S1):c.139-65C>G
|
rs7155228
|
|
|
NM_001128126.3(AP4S1):c.152A>G (p.Glu51Gly)
|
|
|
|
NM_001128126.3(AP4S1):c.295-1G>A
|
rs2139098086
|
|
|
NM_001128126.3(AP4S1):c.306+4182dup
|
rs766477779
|
|
|
NM_001128126.3(AP4S1):c.306+4275G>C
|
rs528491755
|
|
|
NM_001128126.3(AP4S1):c.306+50G>T
|
rs1315033150
|
|
|
NM_001128126.3(AP4S1):c.365_366delinsAG (p.Cys122Ter)
|
|
|
|
NM_001128126.3(AP4S1):c.44G>A (p.Arg15Gln)
|
|
|
|
NM_001130438.3(SPTAN1):c.2158C>G (p.His720Asp)
|
|
|
|
NM_001130438.3(SPTAN1):c.3414+4T>C
|
rs794727389
|
|
|
NM_001130438.3(SPTAN1):c.3781T>C (p.Tyr1261His)
|
|
|
|
NM_001130438.3(SPTAN1):c.55C>T (p.Arg19Trp)
|
rs748232676
|
|
|
NM_001130438.3(SPTAN1):c.6031C>T (p.Arg2011Ter)
|
rs2131938862
|
|
|
NM_001130438.3(SPTAN1):c.6155A>G (p.Lys2052Arg)
|
rs2131953509
|
|
|
NM_001130438.3(SPTAN1):c.6199A>G (p.Met2067Val)
|
|
|
|
NM_001130438.3(SPTAN1):c.6241AAG[2] (p.Lys2083del)
|
rs1858669268
|
|
|
NM_001130438.3(SPTAN1):c.6494T>C (p.Phe2165Ser)
|
rs1589389281
|
|
|
NM_001134775.1(KLC2):c.-451_-235del
|
rs1554996989
|
|
|
NM_001144.6(AMFR):c.1086-97_1380+375del
|
|
|
|
NM_001144.6(AMFR):c.12del (p.Phe5fs)
|
|
|
|
NM_001144.6(AMFR):c.254G>A (p.Trp85Ter)
|
|
|
|
NM_001144.6(AMFR):c.369G>A (p.Trp123Ter)
|
|
|
|
NM_001144.6(AMFR):c.871_874dup (p.Leu292fs)
|
|
|
|
NM_001160148.2(DDHD1):c.*2CT[2]
|
rs3037072
|
|
|
NM_001160148.2(DDHD1):c.*3346AC[18]
|
rs59747041
|
|
|
NM_001160148.2(DDHD1):c.1012+17C>A
|
|
|
|
NM_001160148.2(DDHD1):c.1012+645C>T
|
rs1595179182
|
|
|
NM_001160148.2(DDHD1):c.1012+661A>G
|
|
|
|
NM_001160148.2(DDHD1):c.1012+664T>C
|
|
|
|
NM_001160148.2(DDHD1):c.1012+665G>A
|
|
|
|
NM_001160148.2(DDHD1):c.1015G>A (p.Val339Ile)
|
|
|
|
NM_001160148.2(DDHD1):c.1044dup (p.Val349fs)
|
rs1886604612
|
|
|
NM_001160148.2(DDHD1):c.1056C>T (p.His352=)
|
rs145960430
|
|
|
NM_001160148.2(DDHD1):c.1069G>A (p.Val357Ile)
|
|
|
|
NM_001160148.2(DDHD1):c.110G>C (p.Gly37Ala)
|
rs553631939
|
|
|
NM_001160148.2(DDHD1):c.1116T>G (p.Val372=)
|
rs1886597944
|
|
|
NM_001160148.2(DDHD1):c.1119C>T (p.Thr373=)
|
rs557024302
|
|
|
NM_001160148.2(DDHD1):c.111C>T (p.Gly37=)
|
|
|
|
NM_001160148.2(DDHD1):c.1138A>G (p.Lys380Glu)
|
|
|
|
NM_001160148.2(DDHD1):c.1141+13T>C
|
|
|
|
NM_001160148.2(DDHD1):c.1141+14A>C
|
|
|
|
NM_001160148.2(DDHD1):c.1141+20A>C
|
|
|
|
NM_001160148.2(DDHD1):c.1142-3C>T
|
rs1595159763
|
|
|
NM_001160148.2(DDHD1):c.1142-7T>C
|
rs748714439
|
|
|
NM_001160148.2(DDHD1):c.1143A>G (p.Ala381=)
|
|
|
|
NM_001160148.2(DDHD1):c.1161A>T (p.Arg387Ser)
|
rs1312004804
|
|
|
NM_001160148.2(DDHD1):c.1167T>C (p.His389=)
|
|
|
|
NM_001160148.2(DDHD1):c.1217C>T (p.Thr406Ile)
|
|
|
|
NM_001160148.2(DDHD1):c.1218C>A (p.Thr406=)
|
|
|
|
NM_001160148.2(DDHD1):c.1239T>C (p.His413=)
|
|
|
|
NM_001160148.2(DDHD1):c.1241G>A (p.Gly414Asp)
|
rs762316191
|
|
|
NM_001160148.2(DDHD1):c.1249C>T (p.Gln417Ter)
|
rs2139675094
|
|
|
NM_001160148.2(DDHD1):c.126G>A (p.Glu42=)
|
|
|
|
NM_001160148.2(DDHD1):c.1289+13_1289+24del
|
|
|
|
NM_001160148.2(DDHD1):c.1289+19G>T
|
|
|
|
NM_001160148.2(DDHD1):c.1290-13T>A
|
|
|
|
NM_001160148.2(DDHD1):c.1292T>C (p.Met431Thr)
|
|
|
|
NM_001160148.2(DDHD1):c.130C>T (p.Leu44=)
|
rs1595289971
|
|
|
NM_001160148.2(DDHD1):c.1342A>G (p.Thr448Ala)
|
rs1884727925
|
|
|
NM_001160148.2(DDHD1):c.1349T>C (p.Val450Ala)
|
|
|
|
NM_001160148.2(DDHD1):c.136G>T (p.Gly46Cys)
|
rs61985140
|
|
|
NM_001160148.2(DDHD1):c.1371G>A (p.Trp457Ter)
|
|
|
|
NM_001160148.2(DDHD1):c.1373G>A (p.Arg458Gln)
|
rs1884724474
|
|
|
NM_001160148.2(DDHD1):c.1378A>C (p.Lys460Gln)
|
|
|
|
NM_001160148.2(DDHD1):c.1385C>G (p.Thr462Ser)
|
|
|
|
NM_001160148.2(DDHD1):c.138C>T (p.Gly46=)
|
|
|
|
NM_001160148.2(DDHD1):c.1396+14A>C
|
|
|
|
NM_001160148.2(DDHD1):c.1396+20G>T
|
|
|
|
NM_001160148.2(DDHD1):c.1397-10G>T
|
rs745641472
|
|
|
NM_001160148.2(DDHD1):c.1397-10_1397-7del
|
rs759422578
|
|
|
NM_001160148.2(DDHD1):c.1397-5del
|
rs752225098
|
|
|
NM_001160148.2(DDHD1):c.1397-9T>G
|
|
|
|
NM_001160148.2(DDHD1):c.1400C>T (p.Thr467Ile)
|
|
|
|
NM_001160148.2(DDHD1):c.1402G>T (p.Val468Phe)
|
|
|
|
NM_001160148.2(DDHD1):c.1426G>A (p.Val476Ile)
|
|
|
|
NM_001160148.2(DDHD1):c.1448T>C (p.Leu483Pro)
|
rs2139912886
|
|
|
NM_001160148.2(DDHD1):c.1462A>G (p.Met488Val)
|
|
|
|
NM_001160148.2(DDHD1):c.1473del (p.Met491fs)
|
|
|
|
NM_001160148.2(DDHD1):c.1474T>G (p.Tyr492Asp)
|
|
|
|
NM_001160148.2(DDHD1):c.1479T>C (p.Tyr493=)
|
|
|
|
NM_001160148.2(DDHD1):c.1503+18C>T
|
|
|
|
NM_001160148.2(DDHD1):c.1503+3_1503+6del
|
rs1884601191
|
|
|
NM_001160148.2(DDHD1):c.1503+7G>C
|
|
|
|
NM_001160148.2(DDHD1):c.1521G>A (p.Gln507=)
|
|
|
|
NM_001160148.2(DDHD1):c.1527G>A (p.Glu509=)
|
|
|
|
NM_001160148.2(DDHD1):c.1551C>T (p.Phe517=)
|
rs1883742047
|
|
|
NM_001160148.2(DDHD1):c.1569C>G (p.Asp523Glu)
|
|
|
|
NM_001160148.2(DDHD1):c.1583G>T (p.Gly528Val)
|
|
|
|
NM_001160148.2(DDHD1):c.1637_1638dup (p.Met547Ter)
|
rs2139870889
|
|
|
NM_001160148.2(DDHD1):c.163C>G (p.Pro55Ala)
|
rs1891566193
|
|
|
NM_001160148.2(DDHD1):c.1656A>G (p.Pro552=)
|
|
|
|
NM_001160148.2(DDHD1):c.16C>T (p.Arg6Cys)
|
rs1367342869
|
|
|
NM_001160148.2(DDHD1):c.1709G>A (p.Arg570Gln)
|
rs114715404
|
|
|
NM_001160148.2(DDHD1):c.1714A>G (p.Met572Val)
|
|
|
|
NM_001160148.2(DDHD1):c.1729C>T (p.Arg577Ter)
|
|
|
|
NM_001160148.2(DDHD1):c.1738C>T (p.Leu580Phe)
|
|
|
|
NM_001160148.2(DDHD1):c.1751A>G (p.Tyr584Cys)
|
|
|
|
NM_001160148.2(DDHD1):c.1758T>A (p.Thr586=)
|
rs4898778
|
|
|
NM_001160148.2(DDHD1):c.1758T>C (p.Thr586=)
|
rs4898778
|
|
|
NM_001160148.2(DDHD1):c.1765C>T (p.Arg589Trp)
|
|
|
|
NM_001160148.2(DDHD1):c.1766+9T>C
|
|
|
|
NM_001160148.2(DDHD1):c.1766G>A (p.Arg589Gln)
|
rs1446744416
|
|
|
NM_001160148.2(DDHD1):c.1767-7T>C
|
|
|
|
NM_001160148.2(DDHD1):c.1780GAA[1] (p.Glu595del)
|
rs772636180
|
|
|
NM_001160148.2(DDHD1):c.1786C>T (p.Arg596Trp)
|
|
|
|
NM_001160148.2(DDHD1):c.1787G>A (p.Arg596Gln)
|
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|
|
NM_001160148.2(DDHD1):c.1791T>C (p.Leu597=)
|
|
|
|
NM_001160148.2(DDHD1):c.1795G>A (p.Gly599Arg)
|
|
|
|
NM_001160148.2(DDHD1):c.179G>A (p.Arg60His)
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|
|
NM_001160148.2(DDHD1):c.1824dup (p.Pro609fs)
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|
NM_001160148.2(DDHD1):c.1842+13C>T
|
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|
NM_001160148.2(DDHD1):c.1842+1G>A
|
rs2139861782
|
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NM_001160148.2(DDHD1):c.1842+6_1842+10del
|
rs1383634209
|
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|
NM_001160148.2(DDHD1):c.184del (p.Glu62fs)
|
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|
NM_001160148.2(DDHD1):c.1874del (p.Pro624_Leu625insTer)
|
rs2139850050
|
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|
NM_001160148.2(DDHD1):c.187C>A (p.Pro63Thr)
|
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|
NM_001160148.2(DDHD1):c.187C>G (p.Pro63Ala)
|
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|
|
NM_001160148.2(DDHD1):c.1880T>C (p.Val627Ala)
|
rs1595096181
|
|
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NM_001160148.2(DDHD1):c.189C>G (p.Pro63=)
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|
|
NM_001160148.2(DDHD1):c.18C>T (p.Arg6=)
|
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|
|
NM_001160148.2(DDHD1):c.1903C>T (p.Arg635Cys)
|
|
|
|
NM_001160148.2(DDHD1):c.1905C>T (p.Arg635=)
|
|
|
|
NM_001160148.2(DDHD1):c.1942A>G (p.Arg648Gly)
|
|
|
|
NM_001160148.2(DDHD1):c.1958G>A (p.Arg653Gln)
|
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|
|
NM_001160148.2(DDHD1):c.1979C>G (p.Pro660Arg)
|
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|
|
NM_001160148.2(DDHD1):c.1992+11A>G
|
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|
|
NM_001160148.2(DDHD1):c.1992+8G>T
|
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|
|
NM_001160148.2(DDHD1):c.1993-19T>A
|
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|
NM_001160148.2(DDHD1):c.1993-19dup
|
rs755741246
|
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|
NM_001160148.2(DDHD1):c.1993-20A>T
|
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|
NM_001160148.2(DDHD1):c.1993-3A>G
|
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NM_001160148.2(DDHD1):c.1993-6dup
|
|
|
|
NM_001160148.2(DDHD1):c.1993-8A>T
|
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|
|
NM_001160148.2(DDHD1):c.1993-9T>A
|
rs1314546219
|
|
|
NM_001160148.2(DDHD1):c.1993-9del
|
rs755741246
|
|
|
NM_001160148.2(DDHD1):c.1996del (p.Tyr666fs)
|
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|
NM_001160148.2(DDHD1):c.19G>C (p.Gly7Arg)
|
rs1052951644
|
|
|
NM_001160148.2(DDHD1):c.2022A>G (p.Lys674=)
|
|
|
|
NM_001160148.2(DDHD1):c.2051T>C (p.Ile684Thr)
|
|
|
|
NM_001160148.2(DDHD1):c.207G>T (p.Pro69=)
|
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|
|
NM_001160148.2(DDHD1):c.2087A>G (p.Glu696Gly)
|
|
|
|
NM_001160148.2(DDHD1):c.2097G>C (p.Lys699Asn)
|
|
|
|
NM_001160148.2(DDHD1):c.2123A>T (p.Glu708Val)
|
|
|
|
NM_001160148.2(DDHD1):c.2166A>G (p.Pro722=)
|
rs2139839870
|
|
|
NM_001160148.2(DDHD1):c.2167A>G (p.Ser723Gly)
|
rs2139839860
|
|
|
NM_001160148.2(DDHD1):c.2194C>T (p.Arg732Cys)
|
|
|
|
NM_001160148.2(DDHD1):c.2211A>C (p.Glu737Asp)
|
rs2139839642
|
|
|
NM_001160148.2(DDHD1):c.222C>T (p.His74=)
|
|
|
|
NM_001160148.2(DDHD1):c.2239A>G (p.Ile747Val)
|
|
|
|
NM_001160148.2(DDHD1):c.2245+7T>G
|
|
|
|
NM_001160148.2(DDHD1):c.2257A>G (p.Ile753Val)
|
|
|
|
NM_001160148.2(DDHD1):c.2259T>C (p.Ile753=)
|
|
|
|
NM_001160148.2(DDHD1):c.2262A>T (p.Gly754=)
|
|
|
|
NM_001160148.2(DDHD1):c.2283G>A (p.Leu761=)
|
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|
|
NM_001160148.2(DDHD1):c.2286C>T (p.Phe762=)
|
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|
|
NM_001160148.2(DDHD1):c.2290A>G (p.Arg764Gly)
|
|
|
|
NM_001160148.2(DDHD1):c.2299C>T (p.Arg767Cys)
|
rs1057518484
|
|
|
NM_001160148.2(DDHD1):c.2320T>C (p.Ser774Pro)
|
rs2139835148
|
|
|
NM_001160148.2(DDHD1):c.2341A>G (p.Met781Val)
|
|
|
|
NM_001160148.2(DDHD1):c.2380A>C (p.Thr794Pro)
|
rs1555330109
|
|
|
NM_001160148.2(DDHD1):c.2385C>T (p.Thr795=)
|
|
|
|
NM_001160148.2(DDHD1):c.2408A>T (p.His803Leu)
|
rs144016130
|
|
|
NM_001160148.2(DDHD1):c.241G>C (p.Asp81His)
|
|
|
|
NM_001160148.2(DDHD1):c.2426T>A (p.Leu809His)
|
|
|
|
NM_001160148.2(DDHD1):c.2427C>T (p.Leu809=)
|
|
|
|
NM_001160148.2(DDHD1):c.2437+10T>C
|
|
|
|
NM_001160148.2(DDHD1):c.2437+12C>T
|
rs1882862124
|
|
|
NM_001160148.2(DDHD1):c.2437+18T>G
|
|
|
|
NM_001160148.2(DDHD1):c.2437+7T>G
|
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|
|
NM_001160148.2(DDHD1):c.2437+9A>T
|
|
|
|
NM_001160148.2(DDHD1):c.2444G>A (p.Arg815Lys)
|
rs147133475
|
|
|
NM_001160148.2(DDHD1):c.245C>T (p.Pro82Leu)
|
rs1273114560
|
|
|
NM_001160148.2(DDHD1):c.246del (p.Cys83fs)
|
rs2139938826
|
|
|
NM_001160148.2(DDHD1):c.2522-1G>T
|
rs2139806225
|
|
|
NM_001160148.2(DDHD1):c.2522-8C>G
|
rs768202098
|
|
|
NM_001160148.2(DDHD1):c.2522-8C>T
|
|
|
|
NM_001160148.2(DDHD1):c.2526G>A (p.Glu842=)
|
|
|
|
NM_001160148.2(DDHD1):c.2541del (p.Ile847fs)
|
rs1882057104
|
|
|
NM_001160148.2(DDHD1):c.254G>A (p.Ser85Asn)
|
|
|
|
NM_001160148.2(DDHD1):c.2552T>C (p.Leu851Pro)
|
rs1882056310
|
|
|
NM_001160148.2(DDHD1):c.2577C>G (p.Arg859=)
|
rs1219034460
|
|
|
NM_001160148.2(DDHD1):c.259G>A (p.Glu87Lys)
|
rs1891553460
|
|
|
NM_001160148.2(DDHD1):c.2667C>T (p.His889=)
|
|
|
|
NM_001160148.2(DDHD1):c.2668G>A (p.Asp890Asn)
|
rs202164262
|
|
|
NM_001160148.2(DDHD1):c.2668G>C (p.Asp890His)
|
rs202164262
|
|
|
NM_001160148.2(DDHD1):c.2684C>T (p.Pro895Leu)
|
rs749084227
|
|
|
NM_001160148.2(DDHD1):c.268G>A (p.Asp90Asn)
|
|
|
|
NM_001160148.2(DDHD1):c.2693A>T (p.Asp898Val)
|
|
|
|
NM_001160148.2(DDHD1):c.276C>T (p.Ser92=)
|
|
|
|
NM_001160148.2(DDHD1):c.282C>G (p.Ala94=)
|
|
|
|
NM_001160148.2(DDHD1):c.282C>T (p.Ala94=)
|
|
|
|
NM_001160148.2(DDHD1):c.284A>C (p.Glu95Ala)
|
rs941823104
|
|
|
NM_001160148.2(DDHD1):c.306C>T (p.Tyr102=)
|
rs2139938237
|
|
|
NM_001160148.2(DDHD1):c.308A>G (p.Tyr103Cys)
|
|
|
|
NM_001160148.2(DDHD1):c.315G>A (p.Glu105=)
|
rs774646790
|
|
|
NM_001160148.2(DDHD1):c.325GGC[10] (p.Gly112_Ser113insGlyGlyGlyGlyGlyGly)
|
rs55671452
|
|
|
NM_001160148.2(DDHD1):c.325GGC[2] (p.Gly111_Gly112del)
|
|
|
|
NM_001160148.2(DDHD1):c.325GGC[5] (p.Gly112dup)
|
rs55671452
|
|
|
NM_001160148.2(DDHD1):c.325GGC[6] (p.Gly111_Gly112dup)
|
rs55671452
|
|
|
NM_001160148.2(DDHD1):c.325GGC[7] (p.Gly110_Gly112dup)
|
rs55671452
|
|
|
NM_001160148.2(DDHD1):c.325GGC[8] (p.Gly109_Gly112dup)
|
rs55671452
|
|
|
NM_001160148.2(DDHD1):c.325GGC[9] (p.Gly112_Ser113insGlyGlyGlyGlyGly)
|
rs55671452
|
|
|
NM_001160148.2(DDHD1):c.336_337insGGCAGC (p.Gly112_Ser113insGlySer)
|
|
|
|
NM_001160148.2(DDHD1):c.337A>G (p.Ser113Gly)
|
|
|
|
NM_001160148.2(DDHD1):c.339C>T (p.Ser113=)
|
|
|
|
NM_001160148.2(DDHD1):c.339_340insGGCGGC (p.Ser113_Ser114insGlyGly)
|
|
|
|
NM_001160148.2(DDHD1):c.341C>T (p.Ser114Phe)
|
rs753310279
|
|
|
NM_001160148.2(DDHD1):c.344dup (p.Leu115fs)
|
|
|
|
NM_001160148.2(DDHD1):c.345G>T (p.Leu115Phe)
|
rs2139937244
|
|
|
NM_001160148.2(DDHD1):c.368C>T (p.Pro123Leu)
|
|
|
|
NM_001160148.2(DDHD1):c.36C>A (p.Pro12=)
|
|
|
|
NM_001160148.2(DDHD1):c.371C>T (p.Pro124Leu)
|
|
|
|
NM_001160148.2(DDHD1):c.379C>G (p.Pro127Ala)
|
|
|
|
NM_001160148.2(DDHD1):c.37G>A (p.Glu13Lys)
|
|
|
|
NM_001160148.2(DDHD1):c.383C>G (p.Thr128Arg)
|
rs769034450
|
|
|
NM_001160148.2(DDHD1):c.395dup (p.Gly133fs)
|
rs748385953
|
|
|
NM_001160148.2(DDHD1):c.39G>A (p.Glu13=)
|
|
|
|
NM_001160148.2(DDHD1):c.3G>A (p.Met1Ile)
|
rs1891588735
|
|
|
NM_001160148.2(DDHD1):c.405G>A (p.Ala135=)
|
|
|
|
NM_001160148.2(DDHD1):c.410G>A (p.Gly137Glu)
|
|
|
|
NM_001160148.2(DDHD1):c.423G>A (p.Gly141=)
|
|
|
|
NM_001160148.2(DDHD1):c.441G>A (p.Arg147=)
|
|
|
|
NM_001160148.2(DDHD1):c.442C>G (p.Leu148Val)
|
|
|
|
NM_001160148.2(DDHD1):c.446G>A (p.Gly149Asp)
|
|
|
|
NM_001160148.2(DDHD1):c.450C>A (p.Gly150=)
|
|
|
|
NM_001160148.2(DDHD1):c.452C>T (p.Pro151Leu)
|
|
|
|
NM_001160148.2(DDHD1):c.456_463dup (p.His155fs)
|
|
|
|
NM_001160148.2(DDHD1):c.486G>C (p.Glu162Asp)
|
|
|
|
NM_001160148.2(DDHD1):c.487C>T (p.Leu163=)
|
rs202213647
|
|
|
NM_001160148.2(DDHD1):c.501G>A (p.Glu167=)
|
|
|
|
NM_001160148.2(DDHD1):c.510G>A (p.Trp170Ter)
|
rs1891509468
|
|
|
NM_001160148.2(DDHD1):c.528G>A (p.Lys176=)
|
|
|
|
NM_001160148.2(DDHD1):c.53GCG[6] (p.Gly22dup)
|
rs752119831
|
|
|
NM_001160148.2(DDHD1):c.53GCG[7] (p.Gly21_Gly22dup)
|
rs752119831
|
|
|
NM_001160148.2(DDHD1):c.541C>T (p.Pro181Ser)
|
|
|
|
NM_001160148.2(DDHD1):c.553T>C (p.Tyr185His)
|
|
|
|
NM_001160148.2(DDHD1):c.55_56insTCGGCG (p.Gly18_Gly19insValGly)
|
|
|
|
NM_001160148.2(DDHD1):c.561G>A (p.Ser187=)
|
rs1161786631
|
|
|
NM_001160148.2(DDHD1):c.564C>T (p.Leu188=)
|
|
|
|
NM_001160148.2(DDHD1):c.565C>G (p.Arg189Gly)
|
rs1595287243
|
|
|
NM_001160148.2(DDHD1):c.570C>G (p.Ile190Met)
|
|
|
|
NM_001160148.2(DDHD1):c.576C>T (p.Leu192=)
|
|
|
|
NM_001160148.2(DDHD1):c.590T>C (p.Leu197Pro)
|
|
|
|
NM_001160148.2(DDHD1):c.5dup (p.Asn2fs)
|
rs2139941138
|
|
|
NM_001160148.2(DDHD1):c.601A>G (p.Thr201Ala)
|
|
|
|
NM_001160148.2(DDHD1):c.60C>T (p.Gly20=)
|
|
|
|
NM_001160148.2(DDHD1):c.610C>T (p.Arg204Trp)
|
|
|
|
NM_001160148.2(DDHD1):c.614C>T (p.Pro205Leu)
|
rs533899454
|
|
|
NM_001160148.2(DDHD1):c.620G>T (p.Gly207Val)
|
|
|
|
NM_001160148.2(DDHD1):c.641A>G (p.His214Arg)
|
rs1595286866
|
|
|
NM_001160148.2(DDHD1):c.643G>A (p.Val215Met)
|
|
|
|
NM_001160148.2(DDHD1):c.657G>A (p.Thr219=)
|
|
|
|
NM_001160148.2(DDHD1):c.665C>A (p.Ala222Asp)
|
|
|
|
NM_001160148.2(DDHD1):c.668C>G (p.Ser223Cys)
|
rs2139934413
|
|
|
NM_001160148.2(DDHD1):c.677G>T (p.Gly226Val)
|
|
|
|
NM_001160148.2(DDHD1):c.684T>C (p.Asp228=)
|
rs1382953265
|
|
|
NM_001160148.2(DDHD1):c.688G>T (p.Asp230Tyr)
|
rs147832037
|
|
|
NM_001160148.2(DDHD1):c.688_689delinsAT (p.Asp230Ile)
|
rs1891474773
|
|
|
NM_001160148.2(DDHD1):c.700G>T (p.Ala234Ser)
|
rs200233648
|
|
|
NM_001160148.2(DDHD1):c.702_708del (p.Cys235fs)
|
|
|
|
NM_001160148.2(DDHD1):c.705C>T (p.Cys235=)
|
|
|
|
NM_001160148.2(DDHD1):c.716A>G (p.Gln239Arg)
|
rs1189242936
|
|
|
NM_001160148.2(DDHD1):c.718A>G (p.Ser240Gly)
|
rs1891471025
|
|
|
NM_001160148.2(DDHD1):c.721A>C (p.Thr241Pro)
|
|
|
|
NM_001160148.2(DDHD1):c.723G>A (p.Thr241=)
|
|
|
|
NM_001160148.2(DDHD1):c.730C>T (p.His244Tyr)
|
|
|
|
NM_001160148.2(DDHD1):c.731del (p.His244fs)
|
|
|
|
NM_001160148.2(DDHD1):c.732C>G (p.His244Gln)
|
|
|
|
NM_001160148.2(DDHD1):c.745G>C (p.Val249Leu)
|
|
|
|
NM_001160148.2(DDHD1):c.751C>T (p.Leu251Phe)
|
|
|
|
NM_001160148.2(DDHD1):c.756G>A (p.Val252=)
|
|
|
|
NM_001160148.2(DDHD1):c.765G>T (p.Glu255Asp)
|
|
|
|
NM_001160148.2(DDHD1):c.812G>A (p.Gly271Glu)
|
|
|
|
NM_001160148.2(DDHD1):c.816G>A (p.Glu272=)
|
|
|
|
NM_001160148.2(DDHD1):c.81C>T (p.Gly27=)
|
|
|
|
NM_001160148.2(DDHD1):c.838+16G>A
|
|
|
|
NM_001160148.2(DDHD1):c.838+18G>T
|
|
|
|
NM_001160148.2(DDHD1):c.839-13T>C
|
|
|
|
NM_001160148.2(DDHD1):c.84A>T (p.Ser28=)
|
|
|
|
NM_001160148.2(DDHD1):c.850A>G (p.Ile284Val)
|
|
|
|
NM_001160148.2(DDHD1):c.862C>T (p.Arg288Cys)
|
rs866916431
|
|
|
NM_001160148.2(DDHD1):c.934C>G (p.His312Asp)
|
|
|
|
NM_001160148.2(DDHD1):c.948T>C (p.Phe316=)
|
|
|
|
NM_001160148.2(DDHD1):c.954C>A (p.Gly318=)
|
|
|
|
NM_001160148.2(DDHD1):c.960G>A (p.Gln320=)
|
rs2139724476
|
|
|
NM_001160148.2(DDHD1):c.965A>C (p.Gln322Pro)
|
|
|
|
NM_001160148.2(DDHD1):c.971del (p.Asn324fs)
|
rs1887484564
|
|
|
NM_001160148.2(DDHD1):c.983_985del (p.Glu328del)
|
rs780662262
|
|
|
NM_001160148.2(DDHD1):c.98C>A (p.Ala33Glu)
|
|
|
|
NM_001160148.2(DDHD1):c.991A>C (p.Lys331Gln)
|
|
|
|
NM_001164730.2(REEP1):c.40dup (p.Arg14fs)
|
rs2104562914
|
|
|
NM_001166114.2(PNPLA6):c.*20C>T
|
rs886054698
|
|
|
NM_001166114.2(PNPLA6):c.1005+13C>G
|
|
|
|
NM_001166114.2(PNPLA6):c.1005+14G>C
|
|
|
|
NM_001166114.2(PNPLA6):c.1005+15G>A
|
rs2146055558
|
|
|
NM_001166114.2(PNPLA6):c.1005+17G>C
|
rs2146055581
|
|
|
NM_001166114.2(PNPLA6):c.1005+1G>T
|
rs772913881
|
|
|
NM_001166114.2(PNPLA6):c.1005+20C>A
|
|
|
|
NM_001166114.2(PNPLA6):c.1006-15G>A
|
rs1224962546
|
|
|
NM_001166114.2(PNPLA6):c.1006-19A>G
|
|
|
|
NM_001166114.2(PNPLA6):c.1006-20A>T
|
rs2146055827
|
|
|
NM_001166114.2(PNPLA6):c.1006-4C>G
|
|
|
|
NM_001166114.2(PNPLA6):c.1010T>A (p.Ile337Asn)
|
|
|
|
NM_001166114.2(PNPLA6):c.1016C>A (p.Pro339His)
|
|
|
|
NM_001166114.2(PNPLA6):c.1020G>T (p.Leu340=)
|
|
|
|
NM_001166114.2(PNPLA6):c.1022G>C (p.Arg341Pro)
|
rs745677326
|
|
|
NM_001166114.2(PNPLA6):c.1022G>T (p.Arg341Leu)
|
rs745677326
|
|
|
NM_001166114.2(PNPLA6):c.1030C>T (p.Pro344Ser)
|
rs2146056016
|
|
|
NM_001166114.2(PNPLA6):c.1048A>C (p.Thr350Pro)
|
|
|
|
NM_001166114.2(PNPLA6):c.1049C>T (p.Thr350Ile)
|
|
|
|
NM_001166114.2(PNPLA6):c.1054A>C (p.Thr352Pro)
|
rs751885710
|
|
|
NM_001166114.2(PNPLA6):c.1059C>T (p.Ser353=)
|
rs374546823
|
|
|
NM_001166114.2(PNPLA6):c.1061C>G (p.Pro354Arg)
|
|
|
|
NM_001166114.2(PNPLA6):c.1104C>G (p.Asp368Glu)
|
rs1490230776
|
|
|
NM_001166114.2(PNPLA6):c.1109C>A (p.Pro370His)
|
rs200897068
|
|
|
NM_001166114.2(PNPLA6):c.1119C>T (p.Thr373=)
|
|
|
|
NM_001166114.2(PNPLA6):c.1122A>C (p.Pro374=)
|
|
|
|
NM_001166114.2(PNPLA6):c.1122A>T (p.Pro374=)
|
rs964715857
|
|
|
NM_001166114.2(PNPLA6):c.1125G>C (p.Gly375=)
|
rs1157365527
|
|
|
NM_001166114.2(PNPLA6):c.1126C>T (p.Arg376Trp)
|
rs780122556
|
|
|
NM_001166114.2(PNPLA6):c.1129C>A (p.Pro377Thr)
|
|
|
|
NM_001166114.2(PNPLA6):c.1151C>T (p.Pro384Leu)
|
|
|
|
NM_001166114.2(PNPLA6):c.1152G>A (p.Pro384=)
|
|
|
|
NM_001166114.2(PNPLA6):c.1152G>C (p.Pro384=)
|
rs538277794
|
|
|
NM_001166114.2(PNPLA6):c.1168+10G>A
|
|
|
|
NM_001166114.2(PNPLA6):c.1168+14C>G
|
|
|
|
NM_001166114.2(PNPLA6):c.1168+14C>T
|
|
|
|
NM_001166114.2(PNPLA6):c.1168+1G>C
|
|
|
|
NM_001166114.2(PNPLA6):c.1168+20C>A
|
|
|
|
NM_001166114.2(PNPLA6):c.1168+7A>C
|
|
|
|
NM_001166114.2(PNPLA6):c.1168+8G>A
|
|
|
|
NM_001166114.2(PNPLA6):c.1169-12T>G
|
|
|
|
NM_001166114.2(PNPLA6):c.1199C>A (p.Thr400Asn)
|
|
|
|
NM_001166114.2(PNPLA6):c.1201C>A (p.Pro401Thr)
|
|
|
|
NM_001166114.2(PNPLA6):c.1206G>A (p.Ser402=)
|
|
|
|
NM_001166114.2(PNPLA6):c.1211dup (p.Leu405fs)
|
rs765307463
|
|
|
NM_001166114.2(PNPLA6):c.1223G>A (p.Arg408His)
|
rs150500586
|
|
|
NM_001166114.2(PNPLA6):c.1229dup (p.Ser411fs)
|
rs2146058319
|
|
|
NM_001166114.2(PNPLA6):c.1234A>C (p.Met412Leu)
|
|
|
|
NM_001166114.2(PNPLA6):c.1237C>T (p.Pro413Ser)
|
|
|
|
NM_001166114.2(PNPLA6):c.1246A>C (p.Ile416Leu)
|
|
|
|
NM_001166114.2(PNPLA6):c.1252+19G>T
|
|
|
|
NM_001166114.2(PNPLA6):c.1252+8G>A
|
|
|
|
NM_001166114.2(PNPLA6):c.1253-14del
|
rs1318985494
|
|
|
NM_001166114.2(PNPLA6):c.1253-15C>T
|
|
|
|
NM_001166114.2(PNPLA6):c.1253-16C>T
|
rs2146060047
|
|
|
NM_001166114.2(PNPLA6):c.1253-18C>T
|
|
|
|
NM_001166114.2(PNPLA6):c.1253-19C>G
|
|
|
|
NM_001166114.2(PNPLA6):c.1253-3C>A
|
|
|
|
NM_001166114.2(PNPLA6):c.1253-4G>T
|
|
|
|
NM_001166114.2(PNPLA6):c.1266C>A (p.Gly422=)
|
|
|
|
NM_001166114.2(PNPLA6):c.1268C>G (p.Pro423Arg)
|
rs1245401993
|
|
|
NM_001166114.2(PNPLA6):c.1282G>A (p.Asp428Asn)
|
|
|
|
NM_001166114.2(PNPLA6):c.1290C>G (p.Ala430=)
|
|
|
|
NM_001166114.2(PNPLA6):c.1292A>G (p.Tyr431Cys)
|
rs373050796
|
|
|
NM_001166114.2(PNPLA6):c.1298G>A (p.Arg433His)
|
|
|
|
NM_001166114.2(PNPLA6):c.129G>A (p.Val43=)
|
|
|
|
NM_001166114.2(PNPLA6):c.1302C>T (p.Gly434=)
|
|
|
|
NM_001166114.2(PNPLA6):c.1305G>A (p.Arg435=)
|
rs886054697
|
|
|
NM_001166114.2(PNPLA6):c.130C>T (p.Pro44Ser)
|
rs908461148
|
|
|
NM_001166114.2(PNPLA6):c.1311C>T (p.Ser437=)
|
|
|
|
NM_001166114.2(PNPLA6):c.1312G>T (p.Val438Leu)
|
rs752915572
|
|
|
NM_001166114.2(PNPLA6):c.1321C>T (p.Gln441Ter)
|
rs2023204790
|
|
|
NM_001166114.2(PNPLA6):c.132G>A (p.Pro44=)
|
|
|
|
NM_001166114.2(PNPLA6):c.1331C>A (p.Ala444Asp)
|
rs1599277847
|
|
|
NM_001166114.2(PNPLA6):c.1335C>G (p.Ser445=)
|
|
|
|
NM_001166114.2(PNPLA6):c.1339G>A (p.Gly447Arg)
|
rs373883256
|
|
|
NM_001166114.2(PNPLA6):c.1339G>T (p.Gly447Trp)
|
rs373883256
|
|
|
NM_001166114.2(PNPLA6):c.1341G>A (p.Gly447=)
|
rs775254099
|
|
|
NM_001166114.2(PNPLA6):c.1345del (p.Leu449fs)
|
rs781364197
|
|
|
NM_001166114.2(PNPLA6):c.1356C>T (p.Pro452=)
|
rs776524852
|
|
|
NM_001166114.2(PNPLA6):c.1362+17T>A
|
|
|
|
NM_001166114.2(PNPLA6):c.1362+1G>C
|
rs2146060616
|
|
|
NM_001166114.2(PNPLA6):c.1363-10C>T
|
rs762897981
|
|
|
NM_001166114.2(PNPLA6):c.1363-13C>G
|
|
|
|
NM_001166114.2(PNPLA6):c.1363-14C>T
|
|
|
|
NM_001166114.2(PNPLA6):c.1363-7C>G
|
rs767541631
|
|
|
NM_001166114.2(PNPLA6):c.1365C>A (p.Thr455=)
|
|
|
|
NM_001166114.2(PNPLA6):c.1366C>T (p.Pro456Ser)
|
|
|
|
NM_001166114.2(PNPLA6):c.1369A>G (p.Thr457Ala)
|
rs2023214810
|
|
|
NM_001166114.2(PNPLA6):c.136G>T (p.Val46Phe)
|
|
|
|
NM_001166114.2(PNPLA6):c.1372C>T (p.Gln458Ter)
|
|
|
|
NM_001166114.2(PNPLA6):c.1379_1381del (p.Pro460del)
|
rs762850838
|
|
|
NM_001166114.2(PNPLA6):c.138C>T (p.Val46=)
|
|
|
|
NM_001166114.2(PNPLA6):c.1401C>G (p.Ala467=)
|
|
|
|
NM_001166114.2(PNPLA6):c.140C>T (p.Pro47Leu)
|
|
|
|
NM_001166114.2(PNPLA6):c.1412G>A (p.Ser471Asn)
|
rs2023216883
|
|
|
NM_001166114.2(PNPLA6):c.1427A>G (p.Glu476Gly)
|
rs1242705662
|
|
|
NM_001166114.2(PNPLA6):c.1428G>A (p.Glu476=)
|
|
|
|
NM_001166114.2(PNPLA6):c.1428G>C (p.Glu476Asp)
|
rs1555745911
|
|
|
NM_001166114.2(PNPLA6):c.1429T>G (p.Ser477Ala)
|
rs2023217607
|
|
|
NM_001166114.2(PNPLA6):c.1431G>A (p.Ser477=)
|
|
|
|
NM_001166114.2(PNPLA6):c.1438G>C (p.Gly480Arg)
|
rs2146061174
|
|
|
NM_001166114.2(PNPLA6):c.1448C>T (p.Pro483Leu)
|
rs937353646
|
|
|
NM_001166114.2(PNPLA6):c.1452C>T (p.Phe484=)
|
|
|
|
NM_001166114.2(PNPLA6):c.1463A>T (p.Gln488Leu)
|
rs2023219350
|
|
|
NM_001166114.2(PNPLA6):c.1468C>T (p.Arg490Cys)
|
rs1458269938
|
|
|
NM_001166114.2(PNPLA6):c.1481G>C (p.Ser494Thr)
|
|
|
|
NM_001166114.2(PNPLA6):c.1489G>C (p.Glu497Gln)
|
rs372128647
|
|
|
NM_001166114.2(PNPLA6):c.1497A>G (p.Ala499=)
|
rs2146061450
|
|
|
NM_001166114.2(PNPLA6):c.1522C>T (p.Arg508Trp)
|
rs777484615
|
|
|
NM_001166114.2(PNPLA6):c.1524G>T (p.Arg508=)
|
rs2146061516
|
|
|
NM_001166114.2(PNPLA6):c.1530+10C>T
|
|
|
|
NM_001166114.2(PNPLA6):c.1531-10_1537dup
|
rs770365418
|
|
|
NM_001166114.2(PNPLA6):c.1531-17C>A
|
|
|
|
NM_001166114.2(PNPLA6):c.1531-17C>T
|
rs199515082
|
|
|
NM_001166114.2(PNPLA6):c.1531-3C>T
|
rs2023226974
|
|
|
NM_001166114.2(PNPLA6):c.1544T>C (p.Leu515Pro)
|
|
|
|
NM_001166114.2(PNPLA6):c.1545G>A (p.Leu515=)
|
rs958794349
|
|
|
NM_001166114.2(PNPLA6):c.154G>A (p.Val52Met)
|
|
|
|
NM_001166114.2(PNPLA6):c.156G>T (p.Val52=)
|
|
|
|
NM_001166114.2(PNPLA6):c.1572C>T (p.Ala524=)
|
|
|
|
NM_001166114.2(PNPLA6):c.1581C>T (p.Gly527=)
|
|
|
|
NM_001166114.2(PNPLA6):c.1584C>T (p.Thr528=)
|
rs2146062147
|
|
|
NM_001166114.2(PNPLA6):c.1585A>G (p.Ile529Val)
|
rs756934322
|
|
|
NM_001166114.2(PNPLA6):c.1606C>T (p.Gln536Ter)
|
rs1416173690
|
|
|
NM_001166114.2(PNPLA6):c.1608+11C>A
|
rs368627125
|
|
|
NM_001166114.2(PNPLA6):c.1608+11C>T
|
rs368627125
|
|
|
NM_001166114.2(PNPLA6):c.1608+13_1608+19del
|
rs1456240555
|
|
|
NM_001166114.2(PNPLA6):c.1608+17_1608+18inv
|
|
|
|
NM_001166114.2(PNPLA6):c.1608+18C>G
|
rs568133745
|
|
|
NM_001166114.2(PNPLA6):c.1608+2T>C
|
rs2023231095
|
|
|
NM_001166114.2(PNPLA6):c.1608+3G>T
|
|
|
|
NM_001166114.2(PNPLA6):c.1608+5G>A
|
|
|
|
NM_001166114.2(PNPLA6):c.1609-13C>G
|
|
|
|
NM_001166114.2(PNPLA6):c.1609-14C>T
|
rs1394275867
|
|
|
NM_001166114.2(PNPLA6):c.1609-4A>C
|
rs2146086386
|
|
|
NM_001166114.2(PNPLA6):c.1614G>A (p.Val538=)
|
|
|
|
NM_001166114.2(PNPLA6):c.1632C>T (p.Leu544=)
|
|
|
|
NM_001166114.2(PNPLA6):c.1638C>T (p.Gly546=)
|
rs2146086468
|
|
|
NM_001166114.2(PNPLA6):c.163_186dup (p.Gly55_Val62dup)
|
rs753682780
|
|
|
NM_001166114.2(PNPLA6):c.166G>T (p.Ala56Ser)
|
|
|
|
NM_001166114.2(PNPLA6):c.1673C>A (p.Ala558Glu)
|
rs1473620669
|
|
|
NM_001166114.2(PNPLA6):c.1678G>A (p.Asp560Asn)
|
rs1568415448
|
|
|
NM_001166114.2(PNPLA6):c.1678G>T (p.Asp560Tyr)
|
|
|
|
NM_001166114.2(PNPLA6):c.1681G>A (p.Val561Met)
|
|
|
|
NM_001166114.2(PNPLA6):c.1684_1685del (p.Cys562fs)
|
rs1395700335
|
|
|
NM_001166114.2(PNPLA6):c.1687C>T (p.Leu563=)
|
rs2146086630
|
|
|
NM_001166114.2(PNPLA6):c.1692dup (p.Val565fs)
|
rs2023573141
|
|
|
NM_001166114.2(PNPLA6):c.1693G>A (p.Val565Ile)
|
rs777182371
|
|
|
NM_001166114.2(PNPLA6):c.1695A>T (p.Val565=)
|
|
|
|
NM_001166114.2(PNPLA6):c.169G>C (p.Gly57Arg)
|
rs867376735
|
|
|
NM_001166114.2(PNPLA6):c.1702C>G (p.Pro568Ala)
|
rs2023573612
|
|
|
NM_001166114.2(PNPLA6):c.1704C>T (p.Pro568=)
|
rs62111288
|
|
|
NM_001166114.2(PNPLA6):c.1705G>A (p.Gly569Arg)
|
|
|
|
NM_001166114.2(PNPLA6):c.1720C>T (p.Gln574Ter)
|
|
|
|
NM_001166114.2(PNPLA6):c.1746_1748del (p.Leu583del)
|
|
|
|
NM_001166114.2(PNPLA6):c.1749C>T (p.Leu583=)
|
rs2046990440
|
|
|
NM_001166114.2(PNPLA6):c.1751del (p.Ile584fs)
|
|
|
|
NM_001166114.2(PNPLA6):c.1770A>G (p.Gln590=)
|
rs780340075
|
|
|
NM_001166114.2(PNPLA6):c.1773C>A (p.Arg591=)
|
rs769077760
|
|
|
NM_001166114.2(PNPLA6):c.1773C>T (p.Arg591=)
|
rs769077760
|
|
|
NM_001166114.2(PNPLA6):c.1803C>G (p.Ser601=)
|
|
|
|
NM_001166114.2(PNPLA6):c.1806C>T (p.Asp602=)
|
|
|
|
NM_001166114.2(PNPLA6):c.1814+12C>G
|
|
|
|
NM_001166114.2(PNPLA6):c.1814+13G>T
|
|
|
|
NM_001166114.2(PNPLA6):c.1814+9G>A
|
rs780227432
|
|
|
NM_001166114.2(PNPLA6):c.1815-16A>C
|
|
|
|
NM_001166114.2(PNPLA6):c.1815-19C>T
|
|
|
|
NM_001166114.2(PNPLA6):c.1815-6C>A
|
|
|
|
NM_001166114.2(PNPLA6):c.1815-6del
|
|
|
|
NM_001166114.2(PNPLA6):c.1824C>T (p.Arg608=)
|
rs759282932
|
|
|
NM_001166114.2(PNPLA6):c.1828C>T (p.Gln610Ter)
|
|
|
|
NM_001166114.2(PNPLA6):c.1831C>T (p.Pro611Ser)
|
rs775359901
|
|
|
NM_001166114.2(PNPLA6):c.1867G>A (p.Ala623Thr)
|
rs2146087711
|
|
|
NM_001166114.2(PNPLA6):c.1879C>A (p.Pro627Thr)
|
rs781473840
|
|
|
NM_001166114.2(PNPLA6):c.1882T>C (p.Phe628Leu)
|
rs2023589639
|
|
|
NM_001166114.2(PNPLA6):c.1888C>T (p.Arg630Cys)
|
|
|
|
NM_001166114.2(PNPLA6):c.188C>T (p.Thr63Met)
|
|
|
|
NM_001166114.2(PNPLA6):c.1899C>T (p.Asp633=)
|
|
|
|
NM_001166114.2(PNPLA6):c.1913G>A (p.Trp638Ter)
|
|
|
|
NM_001166114.2(PNPLA6):c.1927G>C (p.Ala643Pro)
|
|
|
|
NM_001166114.2(PNPLA6):c.192C>G (p.Ala64=)
|
|
|
|
NM_001166114.2(PNPLA6):c.1935C>T (p.Arg645=)
|
rs138023728
|
|
|
NM_001166114.2(PNPLA6):c.1938G>A (p.Ala646=)
|
|
|
|
NM_001166114.2(PNPLA6):c.193G>A (p.Val65Met)
|
|
|
|
NM_001166114.2(PNPLA6):c.1946+11C>T
|
|
|
|
NM_001166114.2(PNPLA6):c.1946+12A>G
|
|
|
|
NM_001166114.2(PNPLA6):c.1946+13C>T
|
|
|
|
NM_001166114.2(PNPLA6):c.1946+16C>T
|
rs2146087993
|
|
|
NM_001166114.2(PNPLA6):c.1946+19T>C
|
rs2146088015
|
|
|
NM_001166114.2(PNPLA6):c.1946+2T>G
|
|
|
|
NM_001166114.2(PNPLA6):c.1946+8T>C
|
|
|
|
NM_001166114.2(PNPLA6):c.1947-10G>A
|
|
|
|
NM_001166114.2(PNPLA6):c.1947-13C>T
|
|
|
|
NM_001166114.2(PNPLA6):c.1947-17C>T
|
|
|
|
NM_001166114.2(PNPLA6):c.1947-6A>C
|
rs752932750
|
|
|
NM_001166114.2(PNPLA6):c.1947-6A>G
|
rs752932750
|
|
|
NM_001166114.2(PNPLA6):c.1947-7C>T
|
rs1219660248
|
|
|
NM_001166114.2(PNPLA6):c.1947-9C>T
|
|
|
|
NM_001166114.2(PNPLA6):c.1962C>G (p.Ser654=)
|
rs757870828
|
|
|
NM_001166114.2(PNPLA6):c.1963G>A (p.Asp655Asn)
|
rs2023598411
|
|
|
NM_001166114.2(PNPLA6):c.1968C>A (p.Cys656Ter)
|
|
|
|
NM_001166114.2(PNPLA6):c.1969A>T (p.Thr657Ser)
|
|
|
|
NM_001166114.2(PNPLA6):c.1974C>A (p.Tyr658Ter)
|
|
|
|
NM_001166114.2(PNPLA6):c.197T>G (p.Leu66Arg)
|
rs2146037449
|
|
|
NM_001166114.2(PNPLA6):c.1982T>G (p.Leu661Arg)
|
rs2023598783
|
|
|
NM_001166114.2(PNPLA6):c.1986T>A (p.Asn662Lys)
|
rs1568416066
|
|
|
NM_001166114.2(PNPLA6):c.2007C>T (p.Ile669=)
|
|
|
|
NM_001166114.2(PNPLA6):c.2013A>G (p.Arg671=)
|
|
|
|
NM_001166114.2(PNPLA6):c.2015G>C (p.Gly672Ala)
|
|
|
|
NM_001166114.2(PNPLA6):c.202C>T (p.Leu68Phe)
|
rs2022847854
|
|
|
NM_001166114.2(PNPLA6):c.2031G>T (p.Glu677Asp)
|
rs2023600344
|
|
|
NM_001166114.2(PNPLA6):c.2043G>A (p.Glu681=)
|
rs1338272029
|
|
|
NM_001166114.2(PNPLA6):c.2046C>A (p.Tyr682Ter)
|
rs768438032
|
|
|
NM_001166114.2(PNPLA6):c.2058C>T (p.Asp686=)
|
|
|
|
NM_001166114.2(PNPLA6):c.2061C>T (p.Leu687=)
|
|
|
|
NM_001166114.2(PNPLA6):c.2070+11C>T
|
|
|
|
NM_001166114.2(PNPLA6):c.2070+7G>A
|
rs2146088587
|
|
|
NM_001166114.2(PNPLA6):c.2070+8C>G
|
rs2146088599
|
|
|
NM_001166114.2(PNPLA6):c.2070+9G>C
|
rs752908818
|
|
|
NM_001166114.2(PNPLA6):c.2071-12G>A
|
|
|
|
NM_001166114.2(PNPLA6):c.2071-16G>A
|
|
|
|
NM_001166114.2(PNPLA6):c.2071-3del
|
rs1568416371
|
|
|
NM_001166114.2(PNPLA6):c.2076G>A (p.Glu692=)
|
rs2146089764
|
|
|
NM_001166114.2(PNPLA6):c.207G>A (p.Leu69=)
|
|
|
|
NM_001166114.2(PNPLA6):c.2086C>T (p.Arg696Trp)
|
rs1252365178
|
|
|
NM_001166114.2(PNPLA6):c.2088G>T (p.Arg696=)
|
|
|
|
NM_001166114.2(PNPLA6):c.2098G>C (p.Ala700Pro)
|
rs931291219
|
|
|
NM_001166114.2(PNPLA6):c.2100C>T (p.Ala700=)
|
rs2023620224
|
|
|
NM_001166114.2(PNPLA6):c.2115G>A (p.Ala705=)
|
|
|
|
NM_001166114.2(PNPLA6):c.2122G>C (p.Asp708His)
|
rs2023621348
|
|
|
NM_001166114.2(PNPLA6):c.2126C>G (p.Thr709Arg)
|
|
|
|
NM_001166114.2(PNPLA6):c.2145C>T (p.Pro715=)
|
rs772124781
|
|
|
NM_001166114.2(PNPLA6):c.2149G>A (p.Gly717Ser)
|
rs2146090036
|
|
|
NM_001166114.2(PNPLA6):c.2154C>T (p.Thr718=)
|
|
|
|
NM_001166114.2(PNPLA6):c.215G>A (p.Arg72Gln)
|
|
|
|
NM_001166114.2(PNPLA6):c.2170C>A (p.Arg724Ser)
|
rs2146090101
|
|
|
NM_001166114.2(PNPLA6):c.2172C>T (p.Arg724=)
|
rs2023623281
|
|
|
NM_001166114.2(PNPLA6):c.2176T>C (p.Tyr726His)
|
|
|
|
NM_001166114.2(PNPLA6):c.2178C>T (p.Tyr726=)
|
|
|
|
NM_001166114.2(PNPLA6):c.2183A>G (p.Gln728Arg)
|
|
|
|
NM_001166114.2(PNPLA6):c.2184+16G>A
|
|
|
|
NM_001166114.2(PNPLA6):c.2184+1G>A
|
|
|
|
NM_001166114.2(PNPLA6):c.2184+20G>A
|
|
|
|
NM_001166114.2(PNPLA6):c.2184+2T>G
|
|
|
|
NM_001166114.2(PNPLA6):c.2184+3_2184+4delinsTT
|
|
|
|
NM_001166114.2(PNPLA6):c.2184+4C>A
|
|
|
|
NM_001166114.2(PNPLA6):c.2184+8C>T
|
|
|
|
NM_001166114.2(PNPLA6):c.2184G>C (p.Gln728His)
|
rs2023623991
|
|
|
NM_001166114.2(PNPLA6):c.2185-1G>T
|
rs606231249
|
|
|
NM_001166114.2(PNPLA6):c.2185-20C>G
|
rs2023642040
|
|
|
NM_001166114.2(PNPLA6):c.2185-3C>T
|
rs2023643286
|
|
|
NM_001166114.2(PNPLA6):c.2185-6C>T
|
|
|
|
NM_001166114.2(PNPLA6):c.2185-7C>T
|
|
|
|
NM_001166114.2(PNPLA6):c.2193C>A (p.Thr731=)
|
|
|
|
NM_001166114.2(PNPLA6):c.219G>C (p.Arg73Ser)
|
|
|
|
NM_001166114.2(PNPLA6):c.2204A>G (p.His735Arg)
|
rs2146091516
|
|
|
NM_001166114.2(PNPLA6):c.220C>T (p.Leu74=)
|
rs2146037532
|
|
|
NM_001166114.2(PNPLA6):c.2213G>A (p.Ser738Asn)
|
|
|
|
NM_001166114.2(PNPLA6):c.2239C>G (p.Gln747Glu)
|
rs2023644797
|
|
|
NM_001166114.2(PNPLA6):c.224G>A (p.Arg75Gln)
|
|
|
|
NM_001166114.2(PNPLA6):c.2256C>T (p.Phe752=)
|
|
|
|
NM_001166114.2(PNPLA6):c.2260+14G>A
|
|
|
|
NM_001166114.2(PNPLA6):c.2260+15G>A
|
|
|
|
NM_001166114.2(PNPLA6):c.2260+16C>T
|
|
|
|
NM_001166114.2(PNPLA6):c.2260+1G>C
|
|
|
|
NM_001166114.2(PNPLA6):c.2260+6A>C
|
|
|
|
NM_001166114.2(PNPLA6):c.2260G>C (p.Gly754Arg)
|
|
|
|
NM_001166114.2(PNPLA6):c.2261-12G>C
|
|
|
|
NM_001166114.2(PNPLA6):c.2261-13G>A
|
|
|
|
NM_001166114.2(PNPLA6):c.2272G>A (p.Gly758Ser)
|
|
|
|
NM_001166114.2(PNPLA6):c.2284C>A (p.His762Asn)
|
rs2146099472
|
|
|
NM_001166114.2(PNPLA6):c.2285_2286dup (p.Ser763fs)
|
rs2146099465
|
|
|
NM_001166114.2(PNPLA6):c.2289G>A (p.Ser763=)
|
|
|
|
NM_001166114.2(PNPLA6):c.2293C>G (p.Leu765Val)
|
rs1374962353
|
|
|
NM_001166114.2(PNPLA6):c.232+15G>A
|
|
|
|
NM_001166114.2(PNPLA6):c.232+16G>T
|
|
|
|
NM_001166114.2(PNPLA6):c.233-11C>G
|
|
|
|
NM_001166114.2(PNPLA6):c.233-16C>G
|
|
|
|
NM_001166114.2(PNPLA6):c.233-16C>T
|
|
|
|
NM_001166114.2(PNPLA6):c.233-2A>G
|
|
|
|
NM_001166114.2(PNPLA6):c.2331C>G (p.Ile777Met)
|
|
|
|
NM_001166114.2(PNPLA6):c.2343T>C (p.Cys781=)
|
|
|
|
NM_001166114.2(PNPLA6):c.2349G>A (p.Glu783=)
|
|
|
|
NM_001166114.2(PNPLA6):c.2356A>G (p.Met786Val)
|
rs2146099595
|
|
|
NM_001166114.2(PNPLA6):c.2373G>A (p.Leu791=)
|
|
|
|
NM_001166114.2(PNPLA6):c.2386G>T (p.Ala796Ser)
|
rs144206674
|
|
|
NM_001166114.2(PNPLA6):c.2401+10G>C
|
|
|
|
NM_001166114.2(PNPLA6):c.2401+13del
|
|
|
|
NM_001166114.2(PNPLA6):c.2402-15C>A
|
|
|
|
NM_001166114.2(PNPLA6):c.2402-4del
|
rs1467386153
|
|
|
NM_001166114.2(PNPLA6):c.2402-6C>T
|
|
|
|
NM_001166114.2(PNPLA6):c.2402-7C>T
|
rs2146100412
|
|
|
NM_001166114.2(PNPLA6):c.2405dup (p.Thr803fs)
|
rs1555749683
|
|
|
NM_001166114.2(PNPLA6):c.2406G>A (p.Pro802=)
|
|
|
|
NM_001166114.2(PNPLA6):c.2406G>T (p.Pro802=)
|
rs779055692
|
|
|
NM_001166114.2(PNPLA6):c.2411T>C (p.Leu804Pro)
|
rs148308965
|
|
|
NM_001166114.2(PNPLA6):c.2415C>G (p.Leu805=)
|
|
|
|
NM_001166114.2(PNPLA6):c.2415C>T (p.Leu805=)
|
rs535490318
|
|
|
NM_001166114.2(PNPLA6):c.2422A>G (p.Ser808Gly)
|
rs1402183916
|
|
|
NM_001166114.2(PNPLA6):c.2442C>T (p.Arg814=)
|
|
|
|
NM_001166114.2(PNPLA6):c.2455G>A (p.Ala819Thr)
|
rs2146100619
|
|
|
NM_001166114.2(PNPLA6):c.2456C>T (p.Ala819Val)
|
|
|
|
NM_001166114.2(PNPLA6):c.2460G>A (p.Leu820=)
|
|
|
|
NM_001166114.2(PNPLA6):c.2465+11C>T
|
|
|
|
NM_001166114.2(PNPLA6):c.2465+12A>C
|
|
|
|
NM_001166114.2(PNPLA6):c.2466-13del
|
|
|
|
NM_001166114.2(PNPLA6):c.2466-13dup
|
rs2146101488
|
|
|
NM_001166114.2(PNPLA6):c.2466-17C>T
|
|
|
|
NM_001166114.2(PNPLA6):c.2466-20C>G
|
|
|
|
NM_001166114.2(PNPLA6):c.2466-5C>A
|
|
|
|
NM_001166114.2(PNPLA6):c.246G>A (p.Pro82=)
|
rs1160912108
|
|
|
NM_001166114.2(PNPLA6):c.2475G>A (p.Glu825=)
|
|
|
|
NM_001166114.2(PNPLA6):c.2489G>A (p.Gly830Glu)
|
rs587777185
|
|
|
NM_001166114.2(PNPLA6):c.2518C>T (p.Arg840Cys)
|
rs1599303242
|
|
|
NM_001166114.2(PNPLA6):c.2519G>C (p.Arg840Pro)
|
|
|
|
NM_001166114.2(PNPLA6):c.2523C>A (p.Ile841=)
|
rs375484169
|
|
|
NM_001166114.2(PNPLA6):c.2523C>G (p.Ile841Met)
|
rs375484169
|
|
|
NM_001166114.2(PNPLA6):c.252C>A (p.Gly84=)
|
|
|
|
NM_001166114.2(PNPLA6):c.2533C>G (p.Gln845Glu)
|
rs774188638
|
|
|
NM_001166114.2(PNPLA6):c.2533C>T (p.Gln845Ter)
|
|
|
|
NM_001166114.2(PNPLA6):c.2541C>G (p.Asp847Glu)
|
|
|
|
NM_001166114.2(PNPLA6):c.2542del (p.Ala848fs)
|
|
|
|
NM_001166114.2(PNPLA6):c.2555C>T (p.Pro852Leu)
|
|
|
|
NM_001166114.2(PNPLA6):c.2562C>T (p.Thr854=)
|
rs1215386917
|
|
|
NM_001166114.2(PNPLA6):c.2566C>T (p.Arg856Cys)
|
rs755352257
|
|
|
NM_001166114.2(PNPLA6):c.2568C>G (p.Arg856=)
|
rs2023792282
|
|
|
NM_001166114.2(PNPLA6):c.2571C>T (p.Cys857=)
|
rs2146101890
|
|
|
NM_001166114.2(PNPLA6):c.2575C>A (p.Arg859=)
|
|
|
|
NM_001166114.2(PNPLA6):c.2575C>T (p.Arg859Ter)
|
|
|
|
NM_001166114.2(PNPLA6):c.2583C>T (p.Ala861=)
|
|
|
|
NM_001166114.2(PNPLA6):c.2586C>T (p.Asp862=)
|
|
|
|
NM_001166114.2(PNPLA6):c.2587T>C (p.Cys863Arg)
|
rs2146101950
|
|
|
NM_001166114.2(PNPLA6):c.2619G>A (p.Glu873=)
|
rs768558145
|
|
|
NM_001166114.2(PNPLA6):c.2623A>C (p.Thr875Pro)
|
rs1333226218
|
|
|
NM_001166114.2(PNPLA6):c.2628C>T (p.Leu876=)
|
|
|
|
NM_001166114.2(PNPLA6):c.2634+12G>A
|
|
|
|
NM_001166114.2(PNPLA6):c.2634+38G>C
|
rs599328
|
|
|
NM_001166114.2(PNPLA6):c.2634G>A (p.Gln878=)
|
|
|
|
NM_001166114.2(PNPLA6):c.2635-11G>A
|
rs764568947
|
|
|
NM_001166114.2(PNPLA6):c.2635-12C>T
|
|
|
|
NM_001166114.2(PNPLA6):c.2635-15G>A
|
|
|
|
NM_001166114.2(PNPLA6):c.2635-15G>C
|
|
|
|
NM_001166114.2(PNPLA6):c.2635-16C>T
|
|
|
|
NM_001166114.2(PNPLA6):c.2635-4G>A
|
|
|
|
NM_001166114.2(PNPLA6):c.264G>A (p.Arg88=)
|
|
|
|
NM_001166114.2(PNPLA6):c.2657C>T (p.Thr886Met)
|
|
|
|
NM_001166114.2(PNPLA6):c.2664G>A (p.Val888=)
|
|
|
|
NM_001166114.2(PNPLA6):c.266del (p.Phe89fs)
|
rs2022862975
|
|
|
NM_001166114.2(PNPLA6):c.267C>T (p.Phe89=)
|
rs2146038207
|
|
|
NM_001166114.2(PNPLA6):c.2680C>G (p.Leu894Val)
|
rs2146102825
|
|
|
NM_001166114.2(PNPLA6):c.2684_2688del (p.Val895fs)
|
|
|
|
NM_001166114.2(PNPLA6):c.2685C>T (p.Val895=)
|
rs1431448444
|
|
|
NM_001166114.2(PNPLA6):c.2688G>C (p.Leu896=)
|
rs779565587
|
|
|
NM_001166114.2(PNPLA6):c.2707G>A (p.Ala903Thr)
|
|
|
|
NM_001166114.2(PNPLA6):c.2708C>T (p.Ala903Val)
|
rs1319203305
|
|
|
NM_001166114.2(PNPLA6):c.2711G>T (p.Gly904Val)
|
|
|
|
NM_001166114.2(PNPLA6):c.2714C>T (p.Pro905Leu)
|
rs1301640279
|
|
|
NM_001166114.2(PNPLA6):c.2715C>G (p.Pro905=)
|
rs547174697
|
|
|
NM_001166114.2(PNPLA6):c.2718G>C (p.Thr906=)
|
rs372391232
|
|
|
NM_001166114.2(PNPLA6):c.2727G>C (p.Val909=)
|
|
|
|
NM_001166114.2(PNPLA6):c.2746A>G (p.Ser916Gly)
|
rs2023809980
|
|
|
NM_001166114.2(PNPLA6):c.2760G>T (p.Gly920=)
|
|
|
|
NM_001166114.2(PNPLA6):c.2774G>A (p.Arg925His)
|
|
|
|
NM_001166114.2(PNPLA6):c.2775C>T (p.Arg925=)
|
rs2023810985
|
|
|
NM_001166114.2(PNPLA6):c.2782C>T (p.Arg928Cys)
|
rs765924753
|
|
|
NM_001166114.2(PNPLA6):c.2783G>A (p.Arg928His)
|
rs121434416
|
|
|
NM_001166114.2(PNPLA6):c.2787_2800dup (p.Arg934fs)
|
|
|
|
NM_001166114.2(PNPLA6):c.2794T>C (p.Ser932Pro)
|
|
|
|
NM_001166114.2(PNPLA6):c.2797C>T (p.Arg933Cys)
|
|
|
|
NM_001166114.2(PNPLA6):c.2799C>T (p.Arg933=)
|
|
|
|
NM_001166114.2(PNPLA6):c.2804del (p.Ser935fs)
|
rs1568420077
|
|
|
NM_001166114.2(PNPLA6):c.2809_2810delinsAA (p.Ala937Asn)
|
|
|
|
NM_001166114.2(PNPLA6):c.2817+13C>G
|
|
|
|
NM_001166114.2(PNPLA6):c.2817+14C>T
|
rs752461935
|
|
|
NM_001166114.2(PNPLA6):c.2817+15G>T
|
rs1330741916
|
|
|
NM_001166114.2(PNPLA6):c.2817+16G>A
|
rs2146103325
|
|
|
NM_001166114.2(PNPLA6):c.2817+16del
|
|
|
|
NM_001166114.2(PNPLA6):c.2817+19C>T
|
|
|
|
NM_001166114.2(PNPLA6):c.2817+21del
|
|
|
|
NM_001166114.2(PNPLA6):c.2817+8G>A
|
|
|
|
NM_001166114.2(PNPLA6):c.2818-12C>A
|
|
|
|
NM_001166114.2(PNPLA6):c.2818-16A>C
|
rs2023822747
|
|
|
NM_001166114.2(PNPLA6):c.2818-20G>A
|
|
|
|
NM_001166114.2(PNPLA6):c.2818-20_2818-19delinsCG
|
|
|
|
NM_001166114.2(PNPLA6):c.2825T>C (p.Leu942Pro)
|
rs2146103867
|
|
|
NM_001166114.2(PNPLA6):c.2833A>G (p.Lys945Glu)
|
rs958813626
|
|
|
NM_001166114.2(PNPLA6):c.2839_2840dup (p.Arg949fs)
|
rs1168679768
|
|
|
NM_001166114.2(PNPLA6):c.2843C>T (p.Ser948Phe)
|
|
|
|
NM_001166114.2(PNPLA6):c.2850C>A (p.Arg950=)
|
|
|
|
NM_001166114.2(PNPLA6):c.2855A>G (p.Asp952Gly)
|
rs2023826142
|
|
|
NM_001166114.2(PNPLA6):c.2877C>T (p.Arg959=)
|
rs1479075714
|
|
|
NM_001166114.2(PNPLA6):c.2886G>T (p.Arg962Ser)
|
|
|
|
NM_001166114.2(PNPLA6):c.2908G>A (p.Ala970Thr)
|
rs2023828884
|
|
|
NM_001166114.2(PNPLA6):c.2910C>T (p.Ala970=)
|
|
|
|
NM_001166114.2(PNPLA6):c.2913T>G (p.Leu971=)
|
rs1599305283
|
|
|
NM_001166114.2(PNPLA6):c.2921G>T (p.Gly974Val)
|
rs2023829631
|
|
|
NM_001166114.2(PNPLA6):c.2924G>A (p.Gly975Glu)
|
rs1599305317
|
|
|
NM_001166114.2(PNPLA6):c.2928C>A (p.Gly976=)
|
|
|
|
NM_001166114.2(PNPLA6):c.2929G>A (p.Gly977Arg)
|
rs1161640444
|
|
|
NM_001166114.2(PNPLA6):c.2930G>C (p.Gly977Ala)
|
|
|
|
NM_001166114.2(PNPLA6):c.2934_2936+13del
|
rs1167314561
|
|
|
NM_001166114.2(PNPLA6):c.2934_2936+13dup
|
|
|
|
NM_001166114.2(PNPLA6):c.2936+12G>A
|
|
|
|
NM_001166114.2(PNPLA6):c.2936+14_2936+33del
|
|
|
|
NM_001166114.2(PNPLA6):c.2936+16G>A
|
|
|
|
NM_001166114.2(PNPLA6):c.2936+16G>C
|
rs2023831779
|
|
|
NM_001166114.2(PNPLA6):c.2936+19C>T
|
|
|
|
NM_001166114.2(PNPLA6):c.2936+2T>C
|
|
|
|
NM_001166114.2(PNPLA6):c.2936+4A>G
|
|
|
|
NM_001166114.2(PNPLA6):c.2936+4A>T
|
|
|
|
NM_001166114.2(PNPLA6):c.2936+8C>T
|
|
|
|
NM_001166114.2(PNPLA6):c.2936+9G>A
|
rs1599305430
|
|
|
NM_001166114.2(PNPLA6):c.2937-13A>G
|
|
|
|
NM_001166114.2(PNPLA6):c.2937-13A>T
|
rs2146105279
|
|
|
NM_001166114.2(PNPLA6):c.2937-3C>T
|
|
|
|
NM_001166114.2(PNPLA6):c.2937-4G>A
|
rs1178206789
|
|
|
NM_001166114.2(PNPLA6):c.2937-5G>A
|
rs776211274
|
|
|
NM_001166114.2(PNPLA6):c.2937-7C>T
|
|
|
|
NM_001166114.2(PNPLA6):c.2946G>A (p.Ser982=)
|
|
|
|
NM_001166114.2(PNPLA6):c.2952C>A (p.Ile984=)
|
rs767654280
|
|
|
NM_001166114.2(PNPLA6):c.2953G>C (p.Gly985Arg)
|
|
|
|
NM_001166114.2(PNPLA6):c.2964G>A (p.Lys988=)
|
|
|
|
NM_001166114.2(PNPLA6):c.2982G>T (p.Gly994=)
|
rs2023846753
|
|
|
NM_001166114.2(PNPLA6):c.2988C>A (p.Pro996=)
|
|
|
|
NM_001166114.2(PNPLA6):c.2991G>C (p.Val997=)
|
|
|
|
NM_001166114.2(PNPLA6):c.3004G>C (p.Gly1002Arg)
|
rs772547801
|
|
|
NM_001166114.2(PNPLA6):c.3013A>T (p.Ile1005Phe)
|
rs1335354975
|
|
|
NM_001166114.2(PNPLA6):c.3016G>A (p.Gly1006Ser)
|
|
|
|
NM_001166114.2(PNPLA6):c.3028G>A (p.Gly1010Arg)
|
rs768107851
|
|
|
NM_001166114.2(PNPLA6):c.3041C>T (p.Ala1014Val)
|
|
|
|
NM_001166114.2(PNPLA6):c.3058_3061dup (p.Arg1021fs)
|
rs606231167
|
|
|
NM_001166114.2(PNPLA6):c.3063C>G (p.Arg1021=)
|
rs2023850660
|
|
|
NM_001166114.2(PNPLA6):c.3063C>T (p.Arg1021=)
|
|
|
|
NM_001166114.2(PNPLA6):c.306T>A (p.Ile102=)
|
rs554346890
|
|
|
NM_001166114.2(PNPLA6):c.3077C>T (p.Ala1026Val)
|
|
|
|
NM_001166114.2(PNPLA6):c.3088_3091dup (p.Lys1031fs)
|
|
|
|
NM_001166114.2(PNPLA6):c.3093+11C>T
|
rs376813156
|
|
|
NM_001166114.2(PNPLA6):c.3093+17G>A
|
|
|
|
NM_001166114.2(PNPLA6):c.3093+19G>T
|
|
|
|
NM_001166114.2(PNPLA6):c.3093+20A>G
|
|
|
|
NM_001166114.2(PNPLA6):c.3093+6T>C
|
rs1487510973
|
|
|
NM_001166114.2(PNPLA6):c.3094-11C>T
|
|
|
|
NM_001166114.2(PNPLA6):c.3094-11dup
|
rs2146107854
|
|
|
NM_001166114.2(PNPLA6):c.3094-4C>T
|
rs770724357
|
|
|
NM_001166114.2(PNPLA6):c.3094-6C>A
|
rs202063739
|
|
|
NM_001166114.2(PNPLA6):c.3100A>G (p.Thr1034Ala)
|
|
|
|
NM_001166114.2(PNPLA6):c.3102T>C (p.Thr1034=)
|
|
|
|
NM_001166114.2(PNPLA6):c.3104C>A (p.Ser1035Ter)
|
|
|
|
NM_001166114.2(PNPLA6):c.3105G>T (p.Ser1035=)
|
rs779667737
|
|
|
NM_001166114.2(PNPLA6):c.3112G>A (p.Glu1038Lys)
|
|
|
|
NM_001166114.2(PNPLA6):c.3131C>T (p.Thr1044Met)
|
|
|
|
NM_001166114.2(PNPLA6):c.3143C>T (p.Thr1048Ile)
|
rs587777181
|
|
|
NM_001166114.2(PNPLA6):c.3147C>T (p.Ser1049=)
|
rs2146108058
|
|
|
NM_001166114.2(PNPLA6):c.3148A>G (p.Met1050Val)
|
rs121434415
|
|
|
NM_001166114.2(PNPLA6):c.315+13C>G
|
|
|
|
NM_001166114.2(PNPLA6):c.315+15C>T
|
|
|
|
NM_001166114.2(PNPLA6):c.315+16C>T
|
rs2146038392
|
|
|
NM_001166114.2(PNPLA6):c.315+1G>T
|
|
|
|
NM_001166114.2(PNPLA6):c.3152T>A (p.Phe1051Tyr)
|
rs755407437
|
|
|
NM_001166114.2(PNPLA6):c.3153C>T (p.Phe1051=)
|
rs2146108088
|
|
|
NM_001166114.2(PNPLA6):c.316-10_316-7dup
|
rs758551500
|
|
|
NM_001166114.2(PNPLA6):c.316-12_316-11delinsAT
|
rs2146038902
|
|
|
NM_001166114.2(PNPLA6):c.316-14C>T
|
|
|
|
NM_001166114.2(PNPLA6):c.316-16G>A
|
|
|
|
NM_001166114.2(PNPLA6):c.316-17C>T
|
|
|
|
NM_001166114.2(PNPLA6):c.3177C>T (p.Ser1059=)
|
rs2023886520
|
|
|
NM_001166114.2(PNPLA6):c.3210+13C>T
|
|
|
|
NM_001166114.2(PNPLA6):c.3210+16C>T
|
rs2146108294
|
|
|
NM_001166114.2(PNPLA6):c.3210+17C>T
|
|
|
|
NM_001166114.2(PNPLA6):c.3210+19C>T
|
|
|
|
NM_001166114.2(PNPLA6):c.3210+8C>T
|
|
|
|
NM_001166114.2(PNPLA6):c.3211-11T>C
|
|
|
|
NM_001166114.2(PNPLA6):c.3211-12del
|
rs2146108627
|
|
|
NM_001166114.2(PNPLA6):c.3211-14C>A
|
|
|
|
NM_001166114.2(PNPLA6):c.3211-16A>T
|
rs948743187
|
|
|
NM_001166114.2(PNPLA6):c.3211-17G>A
|
|
|
|
NM_001166114.2(PNPLA6):c.3211-18C>A
|
|
|
|
NM_001166114.2(PNPLA6):c.3211-20C>T
|
|
|
|
NM_001166114.2(PNPLA6):c.3211-4G>A
|
rs779851141
|
|
|
NM_001166114.2(PNPLA6):c.3211-4G>T
|
|
|
|
NM_001166114.2(PNPLA6):c.3237G>A (p.Val1079=)
|
|
|
|
NM_001166114.2(PNPLA6):c.3255C>T (p.Ala1085=)
|
rs1274449529
|
|
|
NM_001166114.2(PNPLA6):c.3265C>T (p.Arg1089Ter)
|
rs562113164
|
|
|
NM_001166114.2(PNPLA6):c.3266G>A (p.Arg1089Gln)
|
rs786201037
|
|
|
NM_001166114.2(PNPLA6):c.3270C>A (p.Val1090=)
|
|
|
|
NM_001166114.2(PNPLA6):c.3270C>T (p.Val1090=)
|
|
|
|
NM_001166114.2(PNPLA6):c.3276A>G (p.Lys1092=)
|
rs2146108820
|
|
|
NM_001166114.2(PNPLA6):c.327C>A (p.Ser109=)
|
rs2146038949
|
|
|
NM_001166114.2(PNPLA6):c.3280+13G>A
|
|
|
|
NM_001166114.2(PNPLA6):c.3281-3C>T
|
rs2023917516
|
|
|
NM_001166114.2(PNPLA6):c.3281-5C>G
|
rs370676290
|
|
|
NM_001166114.2(PNPLA6):c.3281-5C>T
|
rs370676290
|
|
|
NM_001166114.2(PNPLA6):c.3281G>A (p.Gly1094Asp)
|
|
|
|
NM_001166114.2(PNPLA6):c.3292C>T (p.Arg1098Trp)
|
|
|
|
NM_001166114.2(PNPLA6):c.3296A>G (p.Tyr1099Cys)
|
rs2146110600
|
|
|
NM_001166114.2(PNPLA6):c.3298G>A (p.Val1100Met)
|
rs587777182
|
|
|
NM_001166114.2(PNPLA6):c.3301C>T (p.Arg1101Cys)
|
rs2146110637
|
|
|
NM_001166114.2(PNPLA6):c.3309C>T (p.Ser1103=)
|
|
|
|
NM_001166114.2(PNPLA6):c.3310A>G (p.Met1104Val)
|
rs1176866323
|
|
|
NM_001166114.2(PNPLA6):c.3315G>A (p.Thr1105=)
|
|
|
|
NM_001166114.2(PNPLA6):c.331TCC[1] (p.Ser112del)
|
|
|
|
NM_001166114.2(PNPLA6):c.3321G>A (p.Ser1107=)
|
|
|
|
NM_001166114.2(PNPLA6):c.3323G>T (p.Gly1108Val)
|
|
|
|
NM_001166114.2(PNPLA6):c.3335C>A (p.Pro1112Gln)
|
rs748506175
|
|
|
NM_001166114.2(PNPLA6):c.3335C>T (p.Pro1112Leu)
|
rs748506175
|
|
|
NM_001166114.2(PNPLA6):c.3336G>A (p.Pro1112=)
|
|
|
|
NM_001166114.2(PNPLA6):c.3337C>A (p.Leu1113Met)
|
rs1210970179
|
|
|
NM_001166114.2(PNPLA6):c.3349A>G (p.Lys1117Glu)
|
rs2146110782
|
|
|
NM_001166114.2(PNPLA6):c.334T>A (p.Ser112Thr)
|
rs1193422027
|
|
|
NM_001166114.2(PNPLA6):c.3355G>C (p.Gly1119Arg)
|
rs773955314
|
|
|
NM_001166114.2(PNPLA6):c.3361del (p.Leu1121fs)
|
rs766796997
|
|
|
NM_001166114.2(PNPLA6):c.3390T>G (p.Asn1130Lys)
|
|
|
|
NM_001166114.2(PNPLA6):c.3394C>G (p.Pro1132Ala)
|
|
|
|
NM_001166114.2(PNPLA6):c.3397+11G>A
|
rs370597983
|
|
|
NM_001166114.2(PNPLA6):c.3397+11G>C
|
|
|
|
NM_001166114.2(PNPLA6):c.3397+14C>G
|
|
|
|
NM_001166114.2(PNPLA6):c.3397+14C>T
|
|
|
|
NM_001166114.2(PNPLA6):c.3397+15G>A
|
|
|
|
NM_001166114.2(PNPLA6):c.3398-12del
|
rs780867273
|
|
|
NM_001166114.2(PNPLA6):c.3398-19G>C
|
|
|
|
NM_001166114.2(PNPLA6):c.3398-7C>A
|
|
|
|
NM_001166114.2(PNPLA6):c.3398C>T (p.Ala1133Val)
|
rs1361220718
|
|
|
NM_001166114.2(PNPLA6):c.339C>T (p.Leu113=)
|
|
|
|
NM_001166114.2(PNPLA6):c.3405C>A (p.Ile1135=)
|
rs371848168
|
|
|
NM_001166114.2(PNPLA6):c.3405C>T (p.Ile1135=)
|
rs371848168
|
|
|
NM_001166114.2(PNPLA6):c.3406G>A (p.Ala1136Thr)
|
rs765257753
|
|
|
NM_001166114.2(PNPLA6):c.3412A>T (p.Ser1138Cys)
|
|
|
|
NM_001166114.2(PNPLA6):c.3414C>T (p.Ser1138=)
|
|
|
|
NM_001166114.2(PNPLA6):c.3417G>A (p.Met1139Ile)
|
|
|
|
NM_001166114.2(PNPLA6):c.3429G>A (p.Thr1143=)
|
rs373083668
|
|
|
NM_001166114.2(PNPLA6):c.3436G>A (p.Ala1146Thr)
|
|
|
|
NM_001166114.2(PNPLA6):c.3444C>T (p.Asp1148=)
|
|
|
|
NM_001166114.2(PNPLA6):c.3458A>G (p.Asp1153Gly)
|
rs1333307739
|
|
|
NM_001166114.2(PNPLA6):c.3461A>G (p.Glu1154Gly)
|
rs1176067979
|
|
|
NM_001166114.2(PNPLA6):c.3464C>T (p.Thr1155Met)
|
rs1404148214
|
|
|
NM_001166114.2(PNPLA6):c.3465G>A (p.Thr1155=)
|
|
|
|
NM_001166114.2(PNPLA6):c.3473G>A (p.Ser1158Asn)
|
|
|
|
NM_001166114.2(PNPLA6):c.347C>T (p.Thr116Ile)
|
rs769226316
|
|
|
NM_001166114.2(PNPLA6):c.3483G>A (p.Gly1161=)
|
|
|
|
NM_001166114.2(PNPLA6):c.3484G>T (p.Asp1162Tyr)
|
rs2023998335
|
|
|
NM_001166114.2(PNPLA6):c.3489C>G (p.Ser1163Arg)
|
|
|
|
NM_001166114.2(PNPLA6):c.3492G>C (p.Leu1164=)
|
rs577065342
|
|
|
NM_001166114.2(PNPLA6):c.3501G>A (p.Trp1167Ter)
|
|
|
|
NM_001166114.2(PNPLA6):c.3503G>A (p.Trp1168Ter)
|
rs1555751597
|
|
|
NM_001166114.2(PNPLA6):c.3507G>T (p.Leu1169=)
|
|
|
|
NM_001166114.2(PNPLA6):c.3517C>T (p.Arg1173Trp)
|
rs766389806
|
|
|
NM_001166114.2(PNPLA6):c.3526C>T (p.Pro1176Ser)
|
|
|
|
NM_001166114.2(PNPLA6):c.3531G>C (p.Trp1177Cys)
|
rs150230845
|
|
|
NM_001166114.2(PNPLA6):c.3541G>A (p.Val1181Ile)
|
rs2146116601
|
|
|
NM_001166114.2(PNPLA6):c.3548T>G (p.Val1183Gly)
|
rs757555345
|
|
|
NM_001166114.2(PNPLA6):c.354C>T (p.Val118=)
|
rs1466287740
|
|
|
NM_001166114.2(PNPLA6):c.3556A>T (p.Met1186Leu)
|
|
|
|
NM_001166114.2(PNPLA6):c.3574C>T (p.Arg1192Cys)
|
|
|
|
NM_001166114.2(PNPLA6):c.3585C>T (p.Tyr1195=)
|
|
|
|
NM_001166114.2(PNPLA6):c.3587T>C (p.Val1196Ala)
|
rs2146116726
|
|
|
NM_001166114.2(PNPLA6):c.3598C>T (p.Arg1200Trp)
|
rs754590075
|
|
|
NM_001166114.2(PNPLA6):c.359C>T (p.Ala120Val)
|
rs886054696
|
|
|
NM_001166114.2(PNPLA6):c.3609G>A (p.Glu1203=)
|
|
|
|
NM_001166114.2(PNPLA6):c.3609G>T (p.Glu1203Asp)
|
|
|
|
NM_001166114.2(PNPLA6):c.3614T>C (p.Val1205Ala)
|
rs1211079280
|
|
|
NM_001166114.2(PNPLA6):c.3621C>T (p.Ser1207=)
|
rs2146116848
|
|
|
NM_001166114.2(PNPLA6):c.3626C>T (p.Ser1209Phe)
|
|
|
|
NM_001166114.2(PNPLA6):c.3627C>G (p.Ser1209=)
|
rs1568423844
|
|
|
NM_001166114.2(PNPLA6):c.3638A>G (p.Tyr1213Cys)
|
rs2024003949
|
|
|
NM_001166114.2(PNPLA6):c.3643C>T (p.Arg1215Cys)
|
|
|
|
NM_001166114.2(PNPLA6):c.3644G>A (p.Arg1215His)
|
|
|
|
NM_001166114.2(PNPLA6):c.365C>G (p.Ser122Cys)
|
|
|
|
NM_001166114.2(PNPLA6):c.3666G>A (p.Lys1222=)
|
|
|
|
NM_001166114.2(PNPLA6):c.3668_3669insTT (p.Met1224fs)
|
|
|
|
NM_001166114.2(PNPLA6):c.366C>T (p.Ser122=)
|
|
|
|
NM_001166114.2(PNPLA6):c.3681G>A (p.Gly1227=)
|
|
|
|
NM_001166114.2(PNPLA6):c.3690C>T (p.Asp1230=)
|
rs2146117085
|
|
|
NM_001166114.2(PNPLA6):c.3699+13G>A
|
rs2146117176
|
|
|
NM_001166114.2(PNPLA6):c.3699+18G>T
|
|
|
|
NM_001166114.2(PNPLA6):c.3699+7G>T
|
|
|
|
NM_001166114.2(PNPLA6):c.3699+8G>T
|
|
|
|
NM_001166114.2(PNPLA6):c.3699T>C (p.Tyr1233=)
|
rs2024006172
|
|
|
NM_001166114.2(PNPLA6):c.3700-3C>T
|
rs766686613
|
|
|
NM_001166114.2(PNPLA6):c.3701A>T (p.Asp1234Val)
|
rs778792847
|
|
|
NM_001166114.2(PNPLA6):c.3709T>C (p.Tyr1237His)
|
rs2146121420
|
|
|
NM_001166114.2(PNPLA6):c.3711C>T (p.Tyr1237=)
|
|
|
|
NM_001166114.2(PNPLA6):c.3712C>A (p.Gln1238Lys)
|
rs143072391
|
|
|
NM_001166114.2(PNPLA6):c.3720G>A (p.Gly1240=)
|
|
|
|
NM_001166114.2(PNPLA6):c.3723G>C (p.Lys1241Asn)
|
rs1347589242
|
|
|
NM_001166114.2(PNPLA6):c.3725C>T (p.Ala1242Val)
|
|
|
|
NM_001166114.2(PNPLA6):c.3726G>A (p.Ala1242=)
|
rs146121276
|
|
|
NM_001166114.2(PNPLA6):c.3726G>T (p.Ala1242=)
|
|
|
|
NM_001166114.2(PNPLA6):c.3750C>T (p.Gly1250=)
|
|
|
|
NM_001166114.2(PNPLA6):c.3768G>C (p.Met1256Ile)
|
rs878854905
|
|
|
NM_001166114.2(PNPLA6):c.376A>C (p.Met126Leu)
|
|
|
|
NM_001166114.2(PNPLA6):c.3781C>T (p.Arg1261Trp)
|
|
|
|
NM_001166114.2(PNPLA6):c.3782G>A (p.Arg1261Gln)
|
rs1354670102
|
|
|
NM_001166114.2(PNPLA6):c.3808C>T (p.Arg1270Cys)
|
|
|
|
NM_001166114.2(PNPLA6):c.3816+5G>A
|
rs1223083963
|
|
|
NM_001166114.2(PNPLA6):c.3816+8T>C
|
|
|
|
NM_001166114.2(PNPLA6):c.3817-17C>A
|
rs772520041
|
|
|
NM_001166114.2(PNPLA6):c.3817-6C>G
|
rs2146122797
|
|
|
NM_001166114.2(PNPLA6):c.3817G>A (p.Val1273Met)
|
rs1164847477
|
|
|
NM_001166114.2(PNPLA6):c.3819G>A (p.Val1273=)
|
|
|
|
NM_001166114.2(PNPLA6):c.381G>A (p.Arg127=)
|
rs759341701
|
|
|
NM_001166114.2(PNPLA6):c.3823G>A (p.Ala1275Thr)
|
rs139102273
|
|
|
NM_001166114.2(PNPLA6):c.3828C>T (p.Phe1276=)
|
|
|
|
NM_001166114.2(PNPLA6):c.384G>A (p.Lys128=)
|
|
|
|
NM_001166114.2(PNPLA6):c.3851T>A (p.Leu1284Ter)
|
|
|
|
NM_001166114.2(PNPLA6):c.3864G>T (p.Val1288=)
|
rs1453431720
|
|
|
NM_001166114.2(PNPLA6):c.3876G>C (p.Glu1292Asp)
|
|
|
|
NM_001166114.2(PNPLA6):c.3879C>G (p.Pro1293=)
|
rs2024079952
|
|
|
NM_001166114.2(PNPLA6):c.3881C>T (p.Pro1294Leu)
|
|
|
|
NM_001166114.2(PNPLA6):c.3882C>G (p.Pro1294=)
|
rs202070445
|
|
|
NM_001166114.2(PNPLA6):c.3883A>G (p.Thr1295Ala)
|
rs2146122983
|
|
|
NM_001166114.2(PNPLA6):c.3884C>G (p.Thr1295Arg)
|
|
|
|
NM_001166114.2(PNPLA6):c.3903C>T (p.Gly1301=)
|
|
|
|
NM_001166114.2(PNPLA6):c.3910G>A (p.Asp1304Asn)
|
|
|
|
NM_001166114.2(PNPLA6):c.3913+15G>A
|
rs2146123108
|
|
|
NM_001166114.2(PNPLA6):c.3913+17_3913+18del
|
|
|
|
NM_001166114.2(PNPLA6):c.3913+1G>A
|
|
|
|
NM_001166114.2(PNPLA6):c.3913+23del
|
rs11307097
|
|
|
NM_001166114.2(PNPLA6):c.3913+23dup
|
rs11307097
|
|
|
NM_001166114.2(PNPLA6):c.3913+8G>C
|
|
|
|
NM_001166114.2(PNPLA6):c.3914-12C>G
|
|
|
|
NM_001166114.2(PNPLA6):c.3917A>G (p.Glu1306Gly)
|
|
|
|
NM_001166114.2(PNPLA6):c.3925del (p.Asp1309fs)
|
rs1060502664
|
|
|
NM_001166114.2(PNPLA6):c.3938A>C (p.Glu1313Ala)
|
rs2024087885
|
|
|
NM_001166114.2(PNPLA6):c.3951C>G (p.Asp1317Glu)
|
|
|
|
NM_001166114.2(PNPLA6):c.3952G>A (p.Ala1318Thr)
|
|
|
|
NM_001166114.2(PNPLA6):c.3958C>A (p.Pro1320Thr)
|
|
|
|
NM_001166114.2(PNPLA6):c.3960C>T (p.Pro1320=)
|
|
|
|
NM_001166114.2(PNPLA6):c.3969G>C (p.Ser1323=)
|
rs141360025
|
|
|
NM_001166114.2(PNPLA6):c.3973G>A (p.Asp1325Asn)
|
rs1269084486
|
|
|
NM_001166114.2(PNPLA6):c.3977A>C (p.Glu1326Ala)
|
rs2024089279
|
|
|
NM_001166114.2(PNPLA6):c.3979G>T (p.Gly1327Trp)
|
rs1555752329
|
|
|
NM_001166114.2(PNPLA6):c.3981G>A (p.Gly1327=)
|
rs2024089508
|
|
|
NM_001166114.2(PNPLA6):c.3983G>T (p.Gly1328Val)
|
|
|
|
NM_001166114.2(PNPLA6):c.3984dup (p.Ser1329fs)
|
rs753221489
|
|
|
NM_001166114.2(PNPLA6):c.3989_4005del (p.Pro1330fs)
|
|
|
|
NM_001166114.2(PNPLA6):c.3990C>A (p.Pro1330=)
|
rs535388759
|
|
|
NM_001166114.2(PNPLA6):c.3998C>A (p.Ala1333Glu)
|
rs1385761016
|
|
|
NM_001166114.2(PNPLA6):c.3999A>C (p.Ala1333=)
|
rs2146123842
|
|
|
NM_001166114.2(PNPLA6):c.4006A>C (p.Ser1336Arg)
|
|
|
|
NM_001166114.2(PNPLA6):c.401A>C (p.Asn134Thr)
|
rs2022879793
|
|
|
NM_001166114.2(PNPLA6):c.401A>G (p.Asn134Ser)
|
|
|
|
NM_001166114.2(PNPLA6):c.4023+16C>T
|
|
|
|
NM_001166114.2(PNPLA6):c.4023+17C>T
|
|
|
|
NM_001166114.2(PNPLA6):c.4023+7G>A
|
|
|
|
NM_001166114.2(PNPLA6):c.4024-19G>A
|
|
|
|
NM_001166114.2(PNPLA6):c.4024-1G>A
|
|
|
|
NM_001166114.2(PNPLA6):c.4024-4G>A
|
|
|
|
NM_001166114.2(PNPLA6):c.4024-5C>T
|
|
|
|
NM_001166114.2(PNPLA6):c.4024-7C>T
|
|
|
|
NM_001166114.2(PNPLA6):c.4024-8C>A
|
|
|
|
NM_001166114.2(PNPLA6):c.4028A>T (p.Glu1343Val)
|
rs2024099174
|
|
|
NM_001166114.2(PNPLA6):c.4032G>A (p.Glu1344=)
|
rs1399231771
|
|
|
NM_001166114.2(PNPLA6):c.4038G>A (p.Ser1346=)
|
rs757676882
|
|
|
NM_001166114.2(PNPLA6):c.4049A>G (p.Gln1350Arg)
|
rs2146124636
|
|
|
NM_001166114.2(PNPLA6):c.4055G>A (p.Arg1352His)
|
rs746687452
|
|
|
NM_001166114.2(PNPLA6):c.4055G>C (p.Arg1352Pro)
|
rs746687452
|
|
|
NM_001166114.2(PNPLA6):c.4055_4056delinsAT (p.Arg1352His)
|
rs2024100609
|
|
|
NM_001166114.2(PNPLA6):c.4060C>G (p.Leu1354Val)
|
rs150392453
|
|
|
NM_001166114.2(PNPLA6):c.4071G>T (p.Glu1357Asp)
|
rs1198155966
|
|
|
NM_001166114.2(PNPLA6):c.4074G>T (p.Pro1358=)
|
|
|
|
NM_001166114.2(PNPLA6):c.4078G>T (p.Gly1360Cys)
|
|
|
|
NM_001166114.2(PNPLA6):c.4095del (p.Ter1366GluextTer?)
|
rs2024103130
|
|
|
NM_001166114.2(PNPLA6):c.4097G>A (p.Ter1366=)
|
|
|
|
NM_001166114.2(PNPLA6):c.413+11G>C
|
|
|
|
NM_001166114.2(PNPLA6):c.413+13T>G
|
|
|
|
NM_001166114.2(PNPLA6):c.413+1G>A
|
|
|
|
NM_001166114.2(PNPLA6):c.413+8T>A
|
rs997735081
|
|
|
NM_001166114.2(PNPLA6):c.414-10C>G
|
|
|
|
NM_001166114.2(PNPLA6):c.414-14T>A
|
rs953147743
|
|
|
NM_001166114.2(PNPLA6):c.414-17C>T
|
|
|
|
NM_001166114.2(PNPLA6):c.414-3C>T
|
rs1312058418
|
|
|
NM_001166114.2(PNPLA6):c.414-4C>A
|
|
|
|
NM_001166114.2(PNPLA6):c.414-4_414-2del
|
rs771196056
|
|
|
NM_001166114.2(PNPLA6):c.417C>A (p.Ile139=)
|
|
|
|
NM_001166114.2(PNPLA6):c.418C>T (p.Leu140=)
|
|
|
|
NM_001166114.2(PNPLA6):c.421C>T (p.Arg141Cys)
|
rs764125789
|
|
|
NM_001166114.2(PNPLA6):c.438G>A (p.Thr146=)
|
|
|
|
NM_001166114.2(PNPLA6):c.438G>C (p.Thr146=)
|
rs559066236
|
|
|
NM_001166114.2(PNPLA6):c.441C>T (p.Pro147=)
|
|
|
|
NM_001166114.2(PNPLA6):c.469G>A (p.Ala157Thr)
|
|
|
|
NM_001166114.2(PNPLA6):c.469G>T (p.Ala157Ser)
|
rs767940871
|
|
|
NM_001166114.2(PNPLA6):c.475C>T (p.Leu159=)
|
|
|
|
NM_001166114.2(PNPLA6):c.486C>T (p.Asp162=)
|
|
|
|
NM_001166114.2(PNPLA6):c.493G>A (p.Glu165Lys)
|
rs1370160653
|
|
|
NM_001166114.2(PNPLA6):c.498C>T (p.Gly166=)
|
|
|
|
NM_001166114.2(PNPLA6):c.554+12_554+16dup
|
|
|
|
NM_001166114.2(PNPLA6):c.554+13G>T
|
|
|
|
NM_001166114.2(PNPLA6):c.554+17A>T
|
rs1170781714
|
|
|
NM_001166114.2(PNPLA6):c.554+7G>T
|
|
|
|
NM_001166114.2(PNPLA6):c.555-11C>T
|
|
|
|
NM_001166114.2(PNPLA6):c.555-14C>G
|
|
|
|
NM_001166114.2(PNPLA6):c.555-14C>T
|
rs772339510
|
|
|
NM_001166114.2(PNPLA6):c.555-3C>T
|
rs764501990
|
|
|
NM_001166114.2(PNPLA6):c.555G>T (p.Arg185=)
|
rs1329932060
|
|
|
NM_001166114.2(PNPLA6):c.579A>C (p.Pro193=)
|
rs762342193
|
|
|
NM_001166114.2(PNPLA6):c.579A>T (p.Pro193=)
|
rs762342193
|
|
|
NM_001166114.2(PNPLA6):c.598C>T (p.Arg200Cys)
|
rs2146050796
|
|
|
NM_001166114.2(PNPLA6):c.609C>T (p.Val203=)
|
rs1599271966
|
|
|
NM_001166114.2(PNPLA6):c.643C>A (p.Arg215=)
|
|
|
|
NM_001166114.2(PNPLA6):c.656C>G (p.Pro219Arg)
|
rs1246188701
|
|
|
NM_001166114.2(PNPLA6):c.672C>T (p.Tyr224=)
|
|
|
|
NM_001166114.2(PNPLA6):c.675G>A (p.Val225=)
|
|
|
|
NM_001166114.2(PNPLA6):c.678_679delinsAA (p.Gln227Lys)
|
rs2146051181
|
|
|
NM_001166114.2(PNPLA6):c.685G>A (p.Gly229Arg)
|
rs1174515690
|
|
|
NM_001166114.2(PNPLA6):c.690G>C (p.Leu230=)
|
|
|
|
NM_001166114.2(PNPLA6):c.696G>A (p.Glu232=)
|
rs1334721979
|
|
|
NM_001166114.2(PNPLA6):c.697C>T (p.Leu233Phe)
|
|
|
|
NM_001166114.2(PNPLA6):c.699C>T (p.Leu233=)
|
|
|
|
NM_001166114.2(PNPLA6):c.699_700del (p.Cys234fs)
|
rs2146051234
|
|
|
NM_001166114.2(PNPLA6):c.703C>T (p.Leu235=)
|
|
|
|
NM_001166114.2(PNPLA6):c.706C>T (p.Pro236Ser)
|
rs2023070805
|
|
|
NM_001166114.2(PNPLA6):c.710G>A (p.Gly237Glu)
|
rs765649401
|
|
|
NM_001166114.2(PNPLA6):c.711G>C (p.Gly237=)
|
rs773675660
|
|
|
NM_001166114.2(PNPLA6):c.714+1G>A
|
|
|
|
NM_001166114.2(PNPLA6):c.714+8G>A
|
|
|
|
NM_001166114.2(PNPLA6):c.715-13_715-12del
|
|
|
|
NM_001166114.2(PNPLA6):c.715-16G>T
|
|
|
|
NM_001166114.2(PNPLA6):c.715-17G>C
|
rs372017403
|
|
|
NM_001166114.2(PNPLA6):c.715-1G>A
|
|
|
|
NM_001166114.2(PNPLA6):c.715-2A>C
|
|
|
|
NM_001166114.2(PNPLA6):c.721A>C (p.Lys241Gln)
|
|
|
|
NM_001166114.2(PNPLA6):c.726G>A (p.Glu242=)
|
|
|
|
NM_001166114.2(PNPLA6):c.741A>G (p.Glu247=)
|
rs773587782
|
|
|
NM_001166114.2(PNPLA6):c.759C>T (p.Ser253=)
|
rs757493256
|
|
|
NM_001166114.2(PNPLA6):c.760G>A (p.Val254Ile)
|
rs587777184
|
|
|
NM_001166114.2(PNPLA6):c.782T>G (p.Leu261Arg)
|
rs2023091581
|
|
|
NM_001166114.2(PNPLA6):c.786T>C (p.Asp262=)
|
|
|
|
NM_001166114.2(PNPLA6):c.795+18G>A
|
rs2146052894
|
|
|
NM_001166114.2(PNPLA6):c.796-16C>T
|
|
|
|
NM_001166114.2(PNPLA6):c.796-18C>T
|
|
|
|
NM_001166114.2(PNPLA6):c.797G>A (p.Gly266Asp)
|
rs2146053653
|
|
|
NM_001166114.2(PNPLA6):c.801C>T (p.His267=)
|
|
|
|
NM_001166114.2(PNPLA6):c.805C>T (p.His269Tyr)
|
|
|
|
NM_001166114.2(PNPLA6):c.806A>C (p.His269Pro)
|
|
|
|
NM_001166114.2(PNPLA6):c.811C>T (p.Gln271Ter)
|
|
|
|
NM_001166114.2(PNPLA6):c.819C>T (p.Thr273=)
|
|
|
|
NM_001166114.2(PNPLA6):c.829C>T (p.Arg277Trp)
|
|
|
|
NM_001166114.2(PNPLA6):c.833C>G (p.Ala278Gly)
|
rs1433313104
|
|
|
NM_001166114.2(PNPLA6):c.834G>A (p.Ala278=)
|
|
|
|
NM_001166114.2(PNPLA6):c.836C>T (p.Ala279Val)
|
|
|
|
NM_001166114.2(PNPLA6):c.839G>A (p.Arg280Gln)
|
|
|
|
NM_001166114.2(PNPLA6):c.848C>G (p.Thr283Arg)
|
rs772665971
|
|
|
NM_001166114.2(PNPLA6):c.848C>T (p.Thr283Met)
|
|
|
|
NM_001166114.2(PNPLA6):c.849G>T (p.Thr283=)
|
|
|
|
NM_001166114.2(PNPLA6):c.852G>A (p.Val284=)
|
rs2146053863
|
|
|
NM_001166114.2(PNPLA6):c.859C>T (p.Leu287=)
|
|
|
|
NM_001166114.2(PNPLA6):c.860T>A (p.Leu287Gln)
|
|
|
|
NM_001166114.2(PNPLA6):c.864G>C (p.Pro288=)
|
|
|
|
NM_001166114.2(PNPLA6):c.864G>T (p.Pro288=)
|
rs369082833
|
|
|
NM_001166114.2(PNPLA6):c.878C>T (p.Ser293Phe)
|
rs1441967962
|
|
|
NM_001166114.2(PNPLA6):c.882G>A (p.Ala294=)
|
rs2023111489
|
|
|
NM_001166114.2(PNPLA6):c.883G>T (p.Val295Phe)
|
rs1282788048
|
|
|
NM_001166114.2(PNPLA6):c.890C>A (p.Thr297Asn)
|
rs777868937
|
|
|
NM_001166114.2(PNPLA6):c.898C>A (p.Pro300Thr)
|
rs1057518936
|
|
|
NM_001166114.2(PNPLA6):c.899C>T (p.Pro300Leu)
|
|
|
|
NM_001166114.2(PNPLA6):c.913C>T (p.Arg305Trp)
|
rs866964055
|
|
|
NM_001166114.2(PNPLA6):c.919G>C (p.Val307Leu)
|
|
|
|
NM_001166114.2(PNPLA6):c.925-12C>A
|
|
|
|
NM_001166114.2(PNPLA6):c.925-12C>T
|
rs370904772
|
|
|
NM_001166114.2(PNPLA6):c.925-19C>T
|
rs759517233
|
|
|
NM_001166114.2(PNPLA6):c.925-20A>G
|
rs2023129445
|
|
|
NM_001166114.2(PNPLA6):c.925-6C>T
|
|
|
|
NM_001166114.2(PNPLA6):c.930C>T (p.Ile310=)
|
|
|
|
NM_001166114.2(PNPLA6):c.938G>A (p.Arg313Gln)
|
rs2023131773
|
|
|
NM_001166114.2(PNPLA6):c.939G>T (p.Arg313=)
|
|
|
|
NM_001166114.2(PNPLA6):c.945G>T (p.Gln315His)
|
|
|
|
NM_001166114.2(PNPLA6):c.975C>T (p.Tyr325=)
|
|
|
|
NM_001166114.2(PNPLA6):c.978G>A (p.Leu326=)
|
|
|
|
NM_001199753.2(CPT1C):c.1008C>G (p.Phe336Leu)
|
|
|
|
NM_001199753.2(CPT1C):c.1012C>A (p.Arg338=)
|
|
|
|
NM_001199753.2(CPT1C):c.1013G>A (p.Arg338Gln)
|
|
|
|
NM_001199753.2(CPT1C):c.1019G>A (p.Arg340Gln)
|
|
|
|
NM_001199753.2(CPT1C):c.1028G>T (p.Arg343Leu)
|
|
|
|
NM_001199753.2(CPT1C):c.1045C>T (p.Arg349Ter)
|
|
|
|
NM_001199753.2(CPT1C):c.107T>G (p.Leu36Arg)
|
|
|
|
NM_001199753.2(CPT1C):c.1081C>T (p.Gln361Ter)
|
|
|
|
NM_001199753.2(CPT1C):c.110G>A (p.Arg37His)
|
|
|
|
NM_001199753.2(CPT1C):c.111C>T (p.Arg37=)
|
|
|
|
NM_001199753.2(CPT1C):c.1120C>T (p.Pro374Ser)
|
|
|
|
NM_001199753.2(CPT1C):c.1123C>A (p.His375Asn)
|
|
|
|
NM_001199753.2(CPT1C):c.1160+13G>C
|
|
|
|
NM_001199753.2(CPT1C):c.1160+3A>G
|
|
|
|
NM_001199753.2(CPT1C):c.1160+5GGGTCAG[2]
|
|
|
|
NM_001199753.2(CPT1C):c.1161-12C>T
|
|
|
|
NM_001199753.2(CPT1C):c.1166C>T (p.Thr389Met)
|
|
|
|
NM_001199753.2(CPT1C):c.1167G>A (p.Thr389=)
|
|
|
|
NM_001199753.2(CPT1C):c.1202C>T (p.Ala401Val)
|
|
|
|
NM_001199753.2(CPT1C):c.1220C>T (p.Ala407Val)
|
|
|
|
NM_001199753.2(CPT1C):c.1221G>A (p.Ala407=)
|
|
|
|
NM_001199753.2(CPT1C):c.122G>C (p.Arg41Thr)
|
|
|
|
NM_001199753.2(CPT1C):c.1233dup (p.Ala412fs)
|
|
|
|
NM_001199753.2(CPT1C):c.1264G>A (p.Ala422Thr)
|
|
|
|
NM_001199753.2(CPT1C):c.1264G>T (p.Ala422Ser)
|
rs777837083
|
|
|
NM_001199753.2(CPT1C):c.1265C>A (p.Ala422Glu)
|
|
|
|
NM_001199753.2(CPT1C):c.1266G>A (p.Ala422=)
|
|
|
|
NM_001199753.2(CPT1C):c.1272C>T (p.Leu424=)
|
|
|
|
NM_001199753.2(CPT1C):c.1297T>C (p.Leu433=)
|
|
|
|
NM_001199753.2(CPT1C):c.1331G>A (p.Arg444Gln)
|
|
|
|
NM_001199753.2(CPT1C):c.1343+15G>A
|
|
|
|
NM_001199753.2(CPT1C):c.1344-9C>T
|
|
|
|
NM_001199753.2(CPT1C):c.134G>A (p.Arg45His)
|
|
|
|
NM_001199753.2(CPT1C):c.1377C>T (p.Phe459=)
|
|
|
|
NM_001199753.2(CPT1C):c.1386G>A (p.Gly462=)
|
|
|
|
NM_001199753.2(CPT1C):c.13C>A (p.His5Asn)
|
|
|
|
NM_001199753.2(CPT1C):c.1402G>A (p.Val468Met)
|
|
|
|
NM_001199753.2(CPT1C):c.141+19C>T
|
|
|
|
NM_001199753.2(CPT1C):c.1450-2A>C
|
|
|
|
NM_001199753.2(CPT1C):c.1453A>G (p.Thr485Ala)
|
|
|
|
NM_001199753.2(CPT1C):c.146A>T (p.Asp49Val)
|
rs762990997
|
|
|
NM_001199753.2(CPT1C):c.1485C>T (p.Tyr495=)
|
|
|
|
NM_001199753.2(CPT1C):c.1514C>T (p.Pro505Leu)
|
|
|
|
NM_001199753.2(CPT1C):c.1515G>A (p.Pro505=)
|
|
|
|
NM_001199753.2(CPT1C):c.1523C>T (p.Thr508Ile)
|
|
|
|
NM_001199753.2(CPT1C):c.1541G>A (p.Arg514Gln)
|
rs150853576
|
|
|
NM_001199753.2(CPT1C):c.1541G>T (p.Arg514Leu)
|
rs150853576
|
|
|
NM_001199753.2(CPT1C):c.1548A>G (p.Gln516=)
|
|
|
|
NM_001199753.2(CPT1C):c.1563C>T (p.Asp521=)
|
|
|
|
NM_001199753.2(CPT1C):c.1567-10C>T
|
|
|
|
NM_001199753.2(CPT1C):c.1567-13C>T
|
|
|
|
NM_001199753.2(CPT1C):c.1570C>T (p.His524Tyr)
|
|
|
|
NM_001199753.2(CPT1C):c.1579A>G (p.Ile527Val)
|
|
|
|
NM_001199753.2(CPT1C):c.1593G>A (p.Leu531=)
|
|
|
|
NM_001199753.2(CPT1C):c.1598G>T (p.Gly533Val)
|
|
|
|
NM_001199753.2(CPT1C):c.1601C>A (p.Ala534Asp)
|
|
|
|
NM_001199753.2(CPT1C):c.1613C>T (p.Ser538Phe)
|
rs767617636
|
|
|
NM_001199753.2(CPT1C):c.1646C>T (p.Ser549Phe)
|
|
|
|
NM_001199753.2(CPT1C):c.1647C>G (p.Ser549=)
|
|
|
|
NM_001199753.2(CPT1C):c.1648C>T (p.Leu550=)
|
|
|
|
NM_001199753.2(CPT1C):c.1650A>G (p.Leu550=)
|
|
|
|
NM_001199753.2(CPT1C):c.1669C>T (p.Arg557Ter)
|
|
|
|
NM_001199753.2(CPT1C):c.1686T>A (p.Ser562=)
|
|
|
|
NM_001199753.2(CPT1C):c.1730G>A (p.Arg577Gln)
|
|
|
|
NM_001199753.2(CPT1C):c.1732-14_1732-12del
|
rs760298565
|
|
|
NM_001199753.2(CPT1C):c.1732-5C>T
|
|
|
|
NM_001199753.2(CPT1C):c.1732-7C>T
|
|
|
|
NM_001199753.2(CPT1C):c.1732-8del
|
|
|
|
NM_001199753.2(CPT1C):c.1735_1736del (p.Arg579fs)
|
|
|
|
NM_001199753.2(CPT1C):c.1736G>A (p.Arg579Lys)
|
|
|
|
NM_001199753.2(CPT1C):c.1758T>C (p.Tyr586=)
|
|
|
|
NM_001199753.2(CPT1C):c.1764G>A (p.Ser588=)
|
|
|
|
NM_001199753.2(CPT1C):c.1775G>A (p.Arg592His)
|
|
|
|
NM_001199753.2(CPT1C):c.1779A>G (p.Leu593=)
|
|
|
|
NM_001199753.2(CPT1C):c.1786G>C (p.Glu596Gln)
|
|
|
|
NM_001199753.2(CPT1C):c.1793G>A (p.Arg598Gln)
|
|
|
|
NM_001199753.2(CPT1C):c.1800G>A (p.Glu600=)
|
|
|
|
NM_001199753.2(CPT1C):c.1802C>T (p.Thr601Met)
|
|
|
|
NM_001199753.2(CPT1C):c.180C>T (p.Leu60=)
|
|
|
|
NM_001199753.2(CPT1C):c.1824G>A (p.Glu608=)
|
|
|
|
NM_001199753.2(CPT1C):c.1837G>A (p.Val613Ile)
|
|
|
|
NM_001199753.2(CPT1C):c.1837G>C (p.Val613Leu)
|
|
|
|
NM_001199753.2(CPT1C):c.1849G>A (p.Glu617Lys)
|
|
|
|
NM_001199753.2(CPT1C):c.1865C>T (p.Thr622Met)
|
|
|
|
NM_001199753.2(CPT1C):c.1866+13C>T
|
|
|
|
NM_001199753.2(CPT1C):c.1866+16G>A
|
|
|
|
NM_001199753.2(CPT1C):c.1866+3G>A
|
|
|
|
NM_001199753.2(CPT1C):c.1882G>C (p.Ala628Pro)
|
rs774619970
|
|
|
NM_001199753.2(CPT1C):c.1893C>T (p.Arg631=)
|
|
|
|
NM_001199753.2(CPT1C):c.1920G>C (p.Leu640=)
|
|
|
|
NM_001199753.2(CPT1C):c.1928C>G (p.Ala643Gly)
|
|
|
|
NM_001199753.2(CPT1C):c.1938C>T (p.Ser646=)
|
|
|
|
NM_001199753.2(CPT1C):c.1939G>A (p.Gly647Arg)
|
|
|
|
NM_001199753.2(CPT1C):c.1968G>C (p.Ala656=)
|
rs369591453
|
|
|
NM_001199753.2(CPT1C):c.1995C>G (p.His665Gln)
|
|
|
|
NM_001199753.2(CPT1C):c.2002T>C (p.Ser668Pro)
|
|
|
|
NM_001199753.2(CPT1C):c.2019+11A>C
|
|
|
|
NM_001199753.2(CPT1C):c.2019+1G>C
|
|
|
|
NM_001199753.2(CPT1C):c.2047A>C (p.Thr683Pro)
|
|
|
|
NM_001199753.2(CPT1C):c.2062G>A (p.Val688Ile)
|
|
|
|
NM_001199753.2(CPT1C):c.2071A>G (p.Met691Val)
|
|
|
|
NM_001199753.2(CPT1C):c.2093A>G (p.Asn698Ser)
|
|
|
|
NM_001199753.2(CPT1C):c.2105A>G (p.Tyr702Cys)
|
|
|
|
NM_001199753.2(CPT1C):c.2105_2106del (p.Tyr702fs)
|
rs1341198369
|
|
|
NM_001199753.2(CPT1C):c.2133+11C>T
|
|
|
|
NM_001199753.2(CPT1C):c.2133+15dup
|
rs56405217
|
|
|
NM_001199753.2(CPT1C):c.2133+16C>T
|
|
|
|
NM_001199753.2(CPT1C):c.2133+19G>C
|
|
|
|
NM_001199753.2(CPT1C):c.2133+3G>A
|
|
|
|
NM_001199753.2(CPT1C):c.2134-18C>T
|
|
|
|
NM_001199753.2(CPT1C):c.2135C>G (p.Ala712Gly)
|
|
|
|
NM_001199753.2(CPT1C):c.2148T>G (p.Gly716=)
|
rs2123532953
|
|
|
NM_001199753.2(CPT1C):c.2176del (p.Asp726fs)
|
|
|
|
NM_001199753.2(CPT1C):c.2178T>A (p.Asp726Glu)
|
|
|
|
NM_001199753.2(CPT1C):c.2187C>T (p.Ile729=)
|
|
|
|
NM_001199753.2(CPT1C):c.2190C>T (p.Thr730=)
|
rs2123533787
|
|
|
NM_001199753.2(CPT1C):c.2225C>T (p.Thr742Met)
|
|
|
|
NM_001199753.2(CPT1C):c.2227-9T>C
|
|
|
|
NM_001199753.2(CPT1C):c.2261C>T (p.Ala754Val)
|
|
|
|
NM_001199753.2(CPT1C):c.2268G>A (p.Leu756=)
|
|
|
|
NM_001199753.2(CPT1C):c.2301T>C (p.His767=)
|
|
|
|
NM_001199753.2(CPT1C):c.2308C>T (p.Arg770Cys)
|
|
|
|
NM_001199753.2(CPT1C):c.2309G>A (p.Arg770His)
|
|
|
|
NM_001199753.2(CPT1C):c.2311del (p.Arg771fs)
|
rs1568549917
|
|
|
NM_001199753.2(CPT1C):c.2312G>A (p.Arg771Gln)
|
|
|
|
NM_001199753.2(CPT1C):c.2365C>T (p.Arg789Cys)
|
|
|
|
NM_001199753.2(CPT1C):c.2366G>A (p.Arg789His)
|
|
|
|
NM_001199753.2(CPT1C):c.2366G>T (p.Arg789Leu)
|
|
|
|
NM_001199753.2(CPT1C):c.2391A>G (p.Ser797=)
|
rs2084063268
|
|
|
NM_001199753.2(CPT1C):c.2396C>T (p.Thr799Ile)
|
|
|
|
NM_001199753.2(CPT1C):c.26G>A (p.Gly9Asp)
|
|
|
|
NM_001199753.2(CPT1C):c.274C>A (p.Pro92Thr)
|
|
|
|
NM_001199753.2(CPT1C):c.281+8C>A
|
|
|
|
NM_001199753.2(CPT1C):c.281+9C>T
|
|
|
|
NM_001199753.2(CPT1C):c.282-15T>C
|
|
|
|
NM_001199753.2(CPT1C):c.282-3C>G
|
rs2082962666
|
|
|
NM_001199753.2(CPT1C):c.282-5C>T
|
|
|
|
NM_001199753.2(CPT1C):c.297C>T (p.His99=)
|
|
|
|
NM_001199753.2(CPT1C):c.2T>G (p.Met1Arg)
|
rs751933977
|
|
|
NM_001199753.2(CPT1C):c.305G>A (p.Arg102Gln)
|
|
|
|
NM_001199753.2(CPT1C):c.310G>T (p.Val104Phe)
|
|
|
|
NM_001199753.2(CPT1C):c.312C>T (p.Val104=)
|
|
|
|
NM_001199753.2(CPT1C):c.333C>T (p.Ala111=)
|
|
|
|
NM_001199753.2(CPT1C):c.350C>T (p.Ala117Val)
|
|
|
|
NM_001199753.2(CPT1C):c.357C>T (p.Ile119=)
|
|
|
|
NM_001199753.2(CPT1C):c.363A>G (p.Thr121=)
|
|
|
|
NM_001199753.2(CPT1C):c.369C>G (p.His123Gln)
|
|
|
|
NM_001199753.2(CPT1C):c.372G>A (p.Val124=)
|
rs1600070785
|
|
|
NM_001199753.2(CPT1C):c.388C>G (p.Leu130Val)
|
|
|
|
NM_001199753.2(CPT1C):c.391T>C (p.Ser131Pro)
|
|
|
|
NM_001199753.2(CPT1C):c.392C>A (p.Ser131Tyr)
|
|
|
|
NM_001199753.2(CPT1C):c.393C>T (p.Ser131=)
|
|
|
|
NM_001199753.2(CPT1C):c.39G>A (p.Ser13=)
|
|
|
|
NM_001199753.2(CPT1C):c.420C>T (p.His140=)
|
|
|
|
NM_001199753.2(CPT1C):c.421G>A (p.Gly141Arg)
|
|
|
|
NM_001199753.2(CPT1C):c.434C>T (p.Ser145Phe)
|
|
|
|
NM_001199753.2(CPT1C):c.438C>A (p.Pro146=)
|
rs372366841
|
|
|
NM_001199753.2(CPT1C):c.454-11C>T
|
|
|
|
NM_001199753.2(CPT1C):c.455C>T (p.Ala152Val)
|
rs2083037700
|
|
|
NM_001199753.2(CPT1C):c.474T>C (p.Ser158=)
|
|
|
|
NM_001199753.2(CPT1C):c.478C>T (p.Arg160Cys)
|
|
|
|
NM_001199753.2(CPT1C):c.505C>T (p.Arg169Cys)
|
|
|
|
NM_001199753.2(CPT1C):c.506G>A (p.Arg169His)
|
|
|
|
NM_001199753.2(CPT1C):c.51C>A (p.Asp17Glu)
|
|
|
|
NM_001199753.2(CPT1C):c.524C>T (p.Pro175Leu)
|
|
|
|
NM_001199753.2(CPT1C):c.532T>C (p.Ser178Pro)
|
|
|
|
NM_001199753.2(CPT1C):c.539A>G (p.Gln180Arg)
|
|
|
|
NM_001199753.2(CPT1C):c.540G>A (p.Gln180=)
|
|
|
|
NM_001199753.2(CPT1C):c.547G>T (p.Val183Leu)
|
|
|
|
NM_001199753.2(CPT1C):c.556-14C>T
|
|
|
|
NM_001199753.2(CPT1C):c.556-6C>T
|
rs764174539
|
|
|
NM_001199753.2(CPT1C):c.556-9C>A
|
|
|
|
NM_001199753.2(CPT1C):c.558C>A (p.Tyr186Ter)
|
|
|
|
NM_001199753.2(CPT1C):c.567G>A (p.Ser189=)
|
|
|
|
NM_001199753.2(CPT1C):c.56C>T (p.Ala19Val)
|
|
|
|
NM_001199753.2(CPT1C):c.589G>A (p.Glu197Lys)
|
rs749791796
|
|
|
NM_001199753.2(CPT1C):c.598G>A (p.Asp200Asn)
|
|
|
|
NM_001199753.2(CPT1C):c.605C>T (p.Thr202Ile)
|
|
|
|
NM_001199753.2(CPT1C):c.607G>A (p.Ala203Thr)
|
|
|
|
NM_001199753.2(CPT1C):c.609G>A (p.Ala203=)
|
|
|
|
NM_001199753.2(CPT1C):c.652C>T (p.Gln218Ter)
|
|
|
|
NM_001199753.2(CPT1C):c.676T>C (p.Trp226Arg)
|
|
|
|
NM_001199753.2(CPT1C):c.685T>G (p.Ser229Ala)
|
|
|
|
NM_001199753.2(CPT1C):c.689A>C (p.Asn230Thr)
|
|
|
|
NM_001199753.2(CPT1C):c.689A>G (p.Asn230Ser)
|
|
|
|
NM_001199753.2(CPT1C):c.693+10G>A
|
|
|
|
NM_001199753.2(CPT1C):c.693+11C>T
|
|
|
|
NM_001199753.2(CPT1C):c.693+18C>T
|
|
|
|
NM_001199753.2(CPT1C):c.693+7C>G
|
|
|
|
NM_001199753.2(CPT1C):c.694-10C>G
|
|
|
|
NM_001199753.2(CPT1C):c.694-14C>A
|
|
|
|
NM_001199753.2(CPT1C):c.694-2A>G
|
|
|
|
NM_001199753.2(CPT1C):c.694-7C>T
|
|
|
|
NM_001199753.2(CPT1C):c.694-8G>A
|
|
|
|
NM_001199753.2(CPT1C):c.694-9C>G
|
|
|
|
NM_001199753.2(CPT1C):c.694-9C>T
|
|
|
|
NM_001199753.2(CPT1C):c.709G>A (p.Glu237Lys)
|
|
|
|
NM_001199753.2(CPT1C):c.70A>G (p.Ser24Gly)
|
|
|
|
NM_001199753.2(CPT1C):c.727C>T (p.Arg243Cys)
|
|
|
|
NM_001199753.2(CPT1C):c.741G>A (p.Pro247=)
|
|
|
|
NM_001199753.2(CPT1C):c.748G>A (p.Val250Met)
|
|
|
|
NM_001199753.2(CPT1C):c.771+11G>A
|
|
|
|
NM_001199753.2(CPT1C):c.771+20G>A
|
rs2123397167
|
|
|
NM_001199753.2(CPT1C):c.786C>T (p.Val262=)
|
|
|
|
NM_001199753.2(CPT1C):c.793A>C (p.Thr265Pro)
|
|
|
|
NM_001199753.2(CPT1C):c.795G>A (p.Thr265=)
|
|
|
|
NM_001199753.2(CPT1C):c.811C>T (p.Arg271Cys)
|
|
|
|
NM_001199753.2(CPT1C):c.840C>G (p.Leu280=)
|
|
|
|
NM_001199753.2(CPT1C):c.854G>A (p.Arg285His)
|
|
|
|
NM_001199753.2(CPT1C):c.862C>T (p.Arg288Cys)
|
|
|
|
NM_001199753.2(CPT1C):c.863G>T (p.Arg288Leu)
|
|
|
|
NM_001199753.2(CPT1C):c.879+12C>T
|
|
|
|
NM_001199753.2(CPT1C):c.879G>T (p.Pro293=)
|
rs1049933458
|
|
|
NM_001199753.2(CPT1C):c.880-13C>T
|
|
|
|
NM_001199753.2(CPT1C):c.930C>G (p.Ile310Met)
|
|
|
|
NM_001199753.2(CPT1C):c.936C>T (p.Asn312=)
|
|
|
|
NM_001199753.2(CPT1C):c.942G>A (p.Thr314=)
|
|
|
|
NM_001199753.2(CPT1C):c.943C>T (p.Arg315Trp)
|
|
|
|
NM_001199753.2(CPT1C):c.955G>T (p.Val319Phe)
|
|
|
|
NM_001199753.2(CPT1C):c.965-12C>T
|
|
|
|
NM_001199753.2(CPT1C):c.974G>A (p.Arg325His)
|
|
|
|
NM_001199753.2(CPT1C):c.979C>T (p.Leu327Phe)
|
|
|
|
NM_001199753.2(CPT1C):c.991C>G (p.Gln331Glu)
|
|
|
|
NM_001244008.2(KIF1A):c.*1209T>C
|
rs2044578755
|
|
|
NM_001244008.2(KIF1A):c.*120C>A
|
rs1055639642
|
|
|
NM_001244008.2(KIF1A):c.*1615C>T
|
rs543044129
|
|
|
NM_001244008.2(KIF1A):c.*1685G>C
|
rs3732340
|
|
|
NM_001244008.2(KIF1A):c.*1743G>A
|
rs3732338
|
|
|
NM_001244008.2(KIF1A):c.*1776C>T
|
rs771530865
|
|
|
NM_001244008.2(KIF1A):c.*1883T>C
|
rs886055832
|
|
|
NM_001244008.2(KIF1A):c.*1951T>C
|
rs2044509402
|
|
|
NM_001244008.2(KIF1A):c.*1959G>T
|
rs1396513192
|
|
|
NM_001244008.2(KIF1A):c.*1960G>A
|
rs184324379
|
|
|
NM_001244008.2(KIF1A):c.*1960G>C
|
rs184324379
|
|
|
NM_001244008.2(KIF1A):c.*1960G>T
|
rs184324379
|
|
|
NM_001244008.2(KIF1A):c.*1978C>T
|
rs1196012011
|
|
|
NM_001244008.2(KIF1A):c.*2362G>A
|
rs192120362
|
|
|
NM_001244008.2(KIF1A):c.*244G>C
|
rs942924768
|
|
|
NM_001244008.2(KIF1A):c.*2490C>A
|
rs548607067
|
|
|
NM_001244008.2(KIF1A):c.*2498C>T
|
rs536347076
|
|
|
NM_001244008.2(KIF1A):c.*249G>T
|
rs2044657449
|
|
|
NM_001244008.2(KIF1A):c.*2542C>T
|
rs886055829
|
|
|
NM_001244008.2(KIF1A):c.*267G>A
|
rs934101335
|
|
|
NM_001244008.2(KIF1A):c.*2840T>A
|
rs771582093
|
|
|
NM_001244008.2(KIF1A):c.*2897G>T
|
rs2044430881
|
|
|
NM_001244008.2(KIF1A):c.*3035G>C
|
rs573927495
|
|
|
NM_001244008.2(KIF1A):c.*3499C>T
|
rs566825730
|
|
|
NM_001244008.2(KIF1A):c.*3514G>A
|
rs553759523
|
|
|
NM_001244008.2(KIF1A):c.*821T>C
|
rs2044613911
|
|
|
NM_001244008.2(KIF1A):c.1000G>A (p.Ala334Thr)
|
|
|
|
NM_001244008.2(KIF1A):c.1001C>T (p.Ala334Val)
|
rs2125976763
|
|
|
NM_001244008.2(KIF1A):c.1010A>G (p.Asn337Ser)
|
|
|
|
NM_001244008.2(KIF1A):c.1011C>T (p.Asn337=)
|
rs1485121388
|
|
|
NM_001244008.2(KIF1A):c.1013A>G (p.Tyr338Cys)
|
rs2125976707
|
|
|
NM_001244008.2(KIF1A):c.1014C>T (p.Tyr338=)
|
|
|
|
NM_001244008.2(KIF1A):c.1015G>A (p.Asp339Asn)
|
|
|
|
NM_001244008.2(KIF1A):c.1021A>C (p.Thr341Pro)
|
|
|
|
NM_001244008.2(KIF1A):c.1021A>G (p.Thr341Ala)
|
rs2052419658
|
|
|
NM_001244008.2(KIF1A):c.1022C>A (p.Thr341Asn)
|
rs2125976621
|
|
|
NM_001244008.2(KIF1A):c.1026T>C (p.Leu342=)
|
|
|
|
NM_001244008.2(KIF1A):c.1031C>T (p.Thr344Met)
|
rs2125976585
|
|
|
NM_001244008.2(KIF1A):c.1032G>A (p.Thr344=)
|
rs760595439
|
|
|
NM_001244008.2(KIF1A):c.1037+12A>C
|
|
|
|
NM_001244008.2(KIF1A):c.1037+13G>A
|
|
|
|
NM_001244008.2(KIF1A):c.1037+18A>G
|
|
|
|
NM_001244008.2(KIF1A):c.1037+1G>C
|
rs2125976529
|
|
|
NM_001244008.2(KIF1A):c.1037+5G>A
|
|
|
|
NM_001244008.2(KIF1A):c.1037+5G>C
|
|
|
|
NM_001244008.2(KIF1A):c.1037+8C>T
|
rs1575605027
|
|
|
NM_001244008.2(KIF1A):c.1037+9T>C
|
|
|
|
NM_001244008.2(KIF1A):c.1038-13C>T
|
|
|
|
NM_001244008.2(KIF1A):c.1038-15C>T
|
|
|
|
NM_001244008.2(KIF1A):c.1038-17C>A
|
|
|
|
NM_001244008.2(KIF1A):c.1038-19_1038-16dup
|
rs757814048
|
|
|
NM_001244008.2(KIF1A):c.1038-3del
|
rs2125969236
|
|
|
NM_001244008.2(KIF1A):c.1038-4C>T
|
|
|
|
NM_001244008.2(KIF1A):c.1038-5C>T
|
|
|
|
NM_001244008.2(KIF1A):c.1038-6A>G
|
rs1064796903
|
|
|
NM_001244008.2(KIF1A):c.103A>G (p.Thr35Ala)
|
|
|
|
NM_001244008.2(KIF1A):c.1040A>G (p.Tyr347Cys)
|
rs879254004
|
|
|
NM_001244008.2(KIF1A):c.1044T>C (p.Ala348=)
|
|
|
|
NM_001244008.2(KIF1A):c.1048C>G (p.Arg350Gly)
|
rs387907259
|
|
|
NM_001244008.2(KIF1A):c.1049G>A (p.Arg350Gln)
|
|
|
|
NM_001244008.2(KIF1A):c.104C>A (p.Thr35Asn)
|
rs2056551129
|
|
|
NM_001244008.2(KIF1A):c.1058A>G (p.Gln353Arg)
|
|
|
|
NM_001244008.2(KIF1A):c.106+12C>T
|
|
|
|
NM_001244008.2(KIF1A):c.106+13C>T
|
|
|
|
NM_001244008.2(KIF1A):c.106+16C>T
|
rs2056550001
|
|
|
NM_001244008.2(KIF1A):c.106+18C>T
|
|
|
|
NM_001244008.2(KIF1A):c.106+3G>T
|
|
|
|
NM_001244008.2(KIF1A):c.1062C>T (p.Ile354=)
|
|
|
|
NM_001244008.2(KIF1A):c.106A>G (p.Thr36Ala)
|
rs2056550934
|
|
|
NM_001244008.2(KIF1A):c.107-10C>A
|
rs765136234
|
|
|
NM_001244008.2(KIF1A):c.107-10C>T
|
|
|
|
NM_001244008.2(KIF1A):c.107-19C>T
|
|
|
|
NM_001244008.2(KIF1A):c.107-4A>G
|
|
|
|
NM_001244008.2(KIF1A):c.1074T>C (p.Ala358=)
|
|
|
|
NM_001244008.2(KIF1A):c.1075G>C (p.Val359Leu)
|
|
|
|
NM_001244008.2(KIF1A):c.1082A>G (p.Asn361Ser)
|
|
|
|
NM_001244008.2(KIF1A):c.1082A>T (p.Asn361Ile)
|
rs1575603705
|
|
|
NM_001244008.2(KIF1A):c.1095C>A (p.Asn365Lys)
|
|
|
|
NM_001244008.2(KIF1A):c.1098C>T (p.Asn366=)
|
rs1343373032
|
|
|
NM_001244008.2(KIF1A):c.10del (p.Ala4fs)
|
rs2056562900
|
|
|
NM_001244008.2(KIF1A):c.1101G>A (p.Lys367=)
|
|
|
|
NM_001244008.2(KIF1A):c.1108C>T (p.Arg370Cys)
|
rs750240846
|
|
|
NM_001244008.2(KIF1A):c.1109G>A (p.Arg370His)
|
|
|
|
NM_001244008.2(KIF1A):c.1109G>C (p.Arg370Pro)
|
|
|
|
NM_001244008.2(KIF1A):c.1110C>A (p.Arg370=)
|
rs369641508
|
|
|
NM_001244008.2(KIF1A):c.1113G>A (p.Glu371=)
|
|
|
|
NM_001244008.2(KIF1A):c.1114C>G (p.Leu372Val)
|
|
|
|
NM_001244008.2(KIF1A):c.1115T>C (p.Leu372Pro)
|
rs2052246987
|
|
|
NM_001244008.2(KIF1A):c.1128G>C (p.Val376=)
|
|
|
|
NM_001244008.2(KIF1A):c.1128G>T (p.Val376=)
|
rs763073869
|
|
|
NM_001244008.2(KIF1A):c.112G>A (p.Val38Ile)
|
|
|
|
NM_001244008.2(KIF1A):c.1133G>A (p.Arg378Gln)
|
|
|
|
NM_001244008.2(KIF1A):c.1133G>T (p.Arg378Leu)
|
|
|
|
NM_001244008.2(KIF1A):c.1134G>A (p.Arg378=)
|
|
|
|
NM_001244008.2(KIF1A):c.1136T>C (p.Leu379Pro)
|
|
|
|
NM_001244008.2(KIF1A):c.1138C>A (p.Arg380=)
|
|
|
|
NM_001244008.2(KIF1A):c.1139G>C (p.Arg380Pro)
|
rs759791775
|
|
|
NM_001244008.2(KIF1A):c.1141G>A (p.Asp381Asn)
|
rs1263716240
|
|
|
NM_001244008.2(KIF1A):c.1145T>G (p.Leu382Arg)
|
rs2052242225
|
|
|
NM_001244008.2(KIF1A):c.1153G>A (p.Ala385Thr)
|
|
|
|
NM_001244008.2(KIF1A):c.1154C>T (p.Ala385Val)
|
|
|
|
NM_001244008.2(KIF1A):c.1161T>A (p.Gly387=)
|
|
|
|
NM_001244008.2(KIF1A):c.1161T>C (p.Gly387=)
|
rs747490578
|
|
|
NM_001244008.2(KIF1A):c.1164T>C (p.Leu388=)
|
|
|
|
NM_001244008.2(KIF1A):c.1173C>T (p.Ile391=)
|
|
|
|
NM_001244008.2(KIF1A):c.1174A>G (p.Thr392Ala)
|
rs2052237059
|
|
|
NM_001244008.2(KIF1A):c.117C>A (p.Asn39Lys)
|
rs2126098806
|
|
|
NM_001244008.2(KIF1A):c.1180+15C>T
|
rs750022058
|
|
|
NM_001244008.2(KIF1A):c.1180+16A>T
|
|
|
|
NM_001244008.2(KIF1A):c.1180+17G>A
|
|
|
|
NM_001244008.2(KIF1A):c.1180+17G>C
|
|
|
|
NM_001244008.2(KIF1A):c.1180+20T>C
|
|
|
|
NM_001244008.2(KIF1A):c.1180+9C>T
|
rs1553635490
|
|
|
NM_001244008.2(KIF1A):c.1208-10C>T
|
|
|
|
NM_001244008.2(KIF1A):c.1208-2A>C
|
|
|
|
NM_001244008.2(KIF1A):c.1208-3C>T
|
|
|
|
NM_001244008.2(KIF1A):c.1211C>G (p.Thr404Ser)
|
rs2051903102
|
|
|
NM_001244008.2(KIF1A):c.1212C>A (p.Thr404=)
|
|
|
|
NM_001244008.2(KIF1A):c.1214A>G (p.Asn405Ser)
|
|
|
|
NM_001244008.2(KIF1A):c.1214dup (p.Asn405fs)
|
rs1575600733
|
|
|
NM_001244008.2(KIF1A):c.1216G>T (p.Ala406Ser)
|
rs2125951422
|
|
|
NM_001244008.2(KIF1A):c.1217C>A (p.Ala406Asp)
|
|
|
|
NM_001244008.2(KIF1A):c.1219C>T (p.Leu407=)
|
rs2125951393
|
|
|
NM_001244008.2(KIF1A):c.1221G>T (p.Leu407=)
|
|
|
|
NM_001244008.2(KIF1A):c.1222G>C (p.Val408Leu)
|
|
|
|
NM_001244008.2(KIF1A):c.1224G>C (p.Val408=)
|
|
|
|
NM_001244008.2(KIF1A):c.1224G>T (p.Val408=)
|
|
|
|
NM_001244008.2(KIF1A):c.1226G>A (p.Gly409Asp)
|
|
|
|
NM_001244008.2(KIF1A):c.1230G>A (p.Met410Ile)
|
rs1413146684
|
|
|
NM_001244008.2(KIF1A):c.1234C>G (p.Pro412Ala)
|
|
|
|
NM_001244008.2(KIF1A):c.1234C>T (p.Pro412Ser)
|
|
|
|
NM_001244008.2(KIF1A):c.123A>G (p.Lys41=)
|
rs2126098791
|
|
|
NM_001244008.2(KIF1A):c.1244C>T (p.Ser415Leu)
|
rs867278675
|
|
|
NM_001244008.2(KIF1A):c.1245G>C (p.Ser415=)
|
rs770282705
|
|
|
NM_001244008.2(KIF1A):c.1247T>C (p.Leu416Pro)
|
|
|
|
NM_001244008.2(KIF1A):c.1254C>T (p.Ala418=)
|
rs2051896194
|
|
|
NM_001244008.2(KIF1A):c.1257G>C (p.Leu419=)
|
|
|
|
NM_001244008.2(KIF1A):c.1260C>A (p.Ser420=)
|
|
|
|
NM_001244008.2(KIF1A):c.1260C>T (p.Ser420=)
|
|
|
|
NM_001244008.2(KIF1A):c.1264C>A (p.Arg422Ser)
|
|
|
|
NM_001244008.2(KIF1A):c.1265_1285dup (p.Arg422_Ser428dup)
|
rs1575600586
|
|
|
NM_001244008.2(KIF1A):c.126G>A (p.Gln42=)
|
|
|
|
NM_001244008.2(KIF1A):c.1271C>A (p.Ala424Asp)
|
rs780212657
|
|
|
NM_001244008.2(KIF1A):c.1271C>G (p.Ala424Gly)
|
rs780212657
|
|
|
NM_001244008.2(KIF1A):c.1274C>T (p.Ser425Phe)
|
|
|
|
NM_001244008.2(KIF1A):c.1278G>C (p.Val426=)
|
|
|
|
NM_001244008.2(KIF1A):c.1279T>A (p.Ser427Thr)
|
|
|
|
NM_001244008.2(KIF1A):c.1281C>G (p.Ser427=)
|
|
|
|
NM_001244008.2(KIF1A):c.1283G>A (p.Ser428Asn)
|
|
|
|
NM_001244008.2(KIF1A):c.1290C>A (p.His430Gln)
|
|
|
|
NM_001244008.2(KIF1A):c.1290C>T (p.His430=)
|
|
|
|
NM_001244008.2(KIF1A):c.1291G>C (p.Glu431Gln)
|
|
|
|
NM_001244008.2(KIF1A):c.1293G>A (p.Glu431=)
|
|
|
|
NM_001244008.2(KIF1A):c.1294C>G (p.Arg432Gly)
|
|
|
|
NM_001244008.2(KIF1A):c.1294C>T (p.Arg432Cys)
|
rs763524814
|
|
|
NM_001244008.2(KIF1A):c.1295G>A (p.Arg432His)
|
|
|
|
NM_001244008.2(KIF1A):c.1297A>T (p.Ile433Phe)
|
rs2125950614
|
|
|
NM_001244008.2(KIF1A):c.129C>G (p.Pro43=)
|
|
|
|
NM_001244008.2(KIF1A):c.1312G>A (p.Gly438Ser)
|
rs2051886232
|
|
|
NM_001244008.2(KIF1A):c.1314C>T (p.Gly438=)
|
|
|
|
NM_001244008.2(KIF1A):c.1323G>A (p.Glu441=)
|
|
|
|
NM_001244008.2(KIF1A):c.1327A>G (p.Ile443Val)
|
|
|
|
NM_001244008.2(KIF1A):c.1328T>C (p.Ile443Thr)
|
|
|
|
NM_001244008.2(KIF1A):c.1329T>C (p.Ile443=)
|
rs761314693
|
|
|
NM_001244008.2(KIF1A):c.1336C>T (p.Leu446=)
|
rs2125950329
|
|
|
NM_001244008.2(KIF1A):c.133G>C (p.Glu45Gln)
|
|
|
|
NM_001244008.2(KIF1A):c.1341+10C>T
|
|
|
|
NM_001244008.2(KIF1A):c.1341+11C>T
|
|
|
|
NM_001244008.2(KIF1A):c.1341+20C>T
|
|
|
|
NM_001244008.2(KIF1A):c.1341+7G>A
|
rs184947396
|
|
|
NM_001244008.2(KIF1A):c.1341+9A>G
|
rs2125950235
|
|
|
NM_001244008.2(KIF1A):c.1341G>A (p.Lys447=)
|
|
|
|
NM_001244008.2(KIF1A):c.1342-10C>T
|
|
|
|
NM_001244008.2(KIF1A):c.1342-12C>T
|
|
|
|
NM_001244008.2(KIF1A):c.1342-6C>G
|
|
|
|
NM_001244008.2(KIF1A):c.1342-8A>T
|
|
|
|
NM_001244008.2(KIF1A):c.1343A>G (p.Glu448Gly)
|
|
|
|
NM_001244008.2(KIF1A):c.1348G>A (p.Glu450Lys)
|
|
|
|
NM_001244008.2(KIF1A):c.1350G>A (p.Glu450=)
|
|
|
|
NM_001244008.2(KIF1A):c.1351A>G (p.Lys451Glu)
|
|
|
|
NM_001244008.2(KIF1A):c.1365G>A (p.Glu455=)
|
|
|
|
NM_001244008.2(KIF1A):c.1365G>C (p.Glu455Asp)
|
|
|
|
NM_001244008.2(KIF1A):c.136A>C (p.Thr46Pro)
|
rs2126098737
|
|
|
NM_001244008.2(KIF1A):c.1370A>G (p.Asn457Ser)
|
|
|
|
NM_001244008.2(KIF1A):c.1371T>C (p.Asn457=)
|
rs2125940729
|
|
|
NM_001244008.2(KIF1A):c.1377C>G (p.Thr459=)
|
|
|
|
NM_001244008.2(KIF1A):c.137C>A (p.Thr46Lys)
|
rs182395595
|
|
|
NM_001244008.2(KIF1A):c.1383G>A (p.Glu461=)
|
|
|
|
NM_001244008.2(KIF1A):c.138G>C (p.Thr46=)
|
|
|
|
NM_001244008.2(KIF1A):c.1393C>T (p.Arg465Trp)
|
rs748516266
|
|
|
NM_001244008.2(KIF1A):c.1397G>A (p.Arg466Gln)
|
|
|
|
NM_001244008.2(KIF1A):c.139C>T (p.Pro47Ser)
|
rs2126098676
|
|
|
NM_001244008.2(KIF1A):c.1406C>G (p.Ala469Gly)
|
rs2051688642
|
|
|
NM_001244008.2(KIF1A):c.1411C>T (p.Arg471Trp)
|
|
|
|
NM_001244008.2(KIF1A):c.1414A>T (p.Met472Leu)
|
rs2051687232
|
|
|
NM_001244008.2(KIF1A):c.1421+12G>A
|
|
|
|
NM_001244008.2(KIF1A):c.1421+13G>A
|
|
|
|
NM_001244008.2(KIF1A):c.1421+13G>T
|
|
|
|
NM_001244008.2(KIF1A):c.1421+16A>G
|
|
|
|
NM_001244008.2(KIF1A):c.1421+2T>A
|
rs751051049
|
|
|
NM_001244008.2(KIF1A):c.1421+3G>A
|
rs763722570
|
|
|
NM_001244008.2(KIF1A):c.1421+6C>T
|
|
|
|
NM_001244008.2(KIF1A):c.1421+8G>C
|
|
|
|
NM_001244008.2(KIF1A):c.1421+9C>G
|
rs372601809
|
|
|
NM_001244008.2(KIF1A):c.1421+9C>T
|
rs372601809
|
|
|
NM_001244008.2(KIF1A):c.1422-10G>T
|
|
|
|
NM_001244008.2(KIF1A):c.1422-19C>G
|
|
|
|
NM_001244008.2(KIF1A):c.1422-20C>T
|
|
|
|
NM_001244008.2(KIF1A):c.1422-6C>T
|
rs978587094
|
|
|
NM_001244008.2(KIF1A):c.1427C>G (p.Ala476Gly)
|
|
|
|
NM_001244008.2(KIF1A):c.1431G>T (p.Leu477=)
|
rs2125937604
|
|
|
NM_001244008.2(KIF1A):c.1434G>A (p.Leu478=)
|
|
|
|
NM_001244008.2(KIF1A):c.1437C>A (p.Ala479=)
|
rs375180690
|
|
|
NM_001244008.2(KIF1A):c.1438G>A (p.Glu480Lys)
|
rs2125937567
|
|
|
NM_001244008.2(KIF1A):c.1440G>A (p.Glu480=)
|
rs2125937557
|
|
|
NM_001244008.2(KIF1A):c.1446T>A (p.Gly482=)
|
|
|
|
NM_001244008.2(KIF1A):c.1446T>C (p.Gly482=)
|
|
|
|
NM_001244008.2(KIF1A):c.144A>G (p.Lys48=)
|
|
|
|
NM_001244008.2(KIF1A):c.1452C>T (p.Ala484=)
|
rs2125937524
|
|
|
NM_001244008.2(KIF1A):c.1461G>A (p.Glu487=)
|
|
|
|
NM_001244008.2(KIF1A):c.146G>A (p.Ser49Asn)
|
|
|
|
NM_001244008.2(KIF1A):c.1482A>C (p.Val494=)
|
rs1314482134
|
|
|
NM_001244008.2(KIF1A):c.1482A>T (p.Val494=)
|
|
|
|
NM_001244008.2(KIF1A):c.1488T>C (p.Ser496=)
|
|
|
|
NM_001244008.2(KIF1A):c.1495A>C (p.Lys499Gln)
|
|
|
|
NM_001244008.2(KIF1A):c.1497+10A>G
|
|
|
|
NM_001244008.2(KIF1A):c.1497+18T>C
|
|
|
|
NM_001244008.2(KIF1A):c.1497+19C>T
|
|
|
|
NM_001244008.2(KIF1A):c.1497+6A>G
|
|
|
|
NM_001244008.2(KIF1A):c.1498-10C>T
|
|
|
|
NM_001244008.2(KIF1A):c.1498-12G>A
|
|
|
|
NM_001244008.2(KIF1A):c.1498-12G>C
|
rs369126975
|
|
|
NM_001244008.2(KIF1A):c.1498-12G>T
|
rs369126975
|
|
|
NM_001244008.2(KIF1A):c.1498-15C>G
|
|
|
|
NM_001244008.2(KIF1A):c.1498-15C>T
|
rs760557226
|
|
|
NM_001244008.2(KIF1A):c.1498-18C>A
|
|
|
|
NM_001244008.2(KIF1A):c.1498-3C>A
|
rs1191854158
|
|
|
NM_001244008.2(KIF1A):c.14C>T (p.Ser5Leu)
|
|
|
|
NM_001244008.2(KIF1A):c.1500A>C (p.Thr500=)
|
|
|
|
NM_001244008.2(KIF1A):c.1500A>G (p.Thr500=)
|
rs937511086
|
|
|
NM_001244008.2(KIF1A):c.1506C>T (p.His502=)
|
|
|
|
NM_001244008.2(KIF1A):c.1510G>A (p.Val504Ile)
|
|
|
|
NM_001244008.2(KIF1A):c.1510G>C (p.Val504Leu)
|
|
|
|
NM_001244008.2(KIF1A):c.1522G>C (p.Glu508Gln)
|
rs1276695754
|
|
|
NM_001244008.2(KIF1A):c.1525G>A (p.Asp509Asn)
|
|
|
|
NM_001244008.2(KIF1A):c.1529C>T (p.Pro510Leu)
|
|
|
|
NM_001244008.2(KIF1A):c.1531C>G (p.Leu511Val)
|
rs2125927251
|
|
|
NM_001244008.2(KIF1A):c.1539T>A (p.Ser513=)
|
|
|
|
NM_001244008.2(KIF1A):c.153C>G (p.Ser51Arg)
|
rs919187835
|
|
|
NM_001244008.2(KIF1A):c.1546C>T (p.Leu516=)
|
rs1575595906
|
|
|
NM_001244008.2(KIF1A):c.1549C>T (p.Leu517Phe)
|
rs2051325258
|
|
|
NM_001244008.2(KIF1A):c.1558A>G (p.Ile520Val)
|
rs1433726322
|
|
|
NM_001244008.2(KIF1A):c.1569G>T (p.Gly523=)
|
rs2051323970
|
|
|
NM_001244008.2(KIF1A):c.1577+12C>G
|
|
|
|
NM_001244008.2(KIF1A):c.1577+13C>T
|
|
|
|
NM_001244008.2(KIF1A):c.1577+15G>A
|
|
|
|
NM_001244008.2(KIF1A):c.1577+19G>A
|
|
|
|
NM_001244008.2(KIF1A):c.1577+20C>T
|
|
|
|
NM_001244008.2(KIF1A):c.1577+9G>A
|
rs2125927085
|
|
|
NM_001244008.2(KIF1A):c.1577+9_1577+13dup
|
|
|
|
NM_001244008.2(KIF1A):c.1578-10C>T
|
|
|
|
NM_001244008.2(KIF1A):c.1578-12C>T
|
|
|
|
NM_001244008.2(KIF1A):c.1578-15G>A
|
|
|
|
NM_001244008.2(KIF1A):c.1578-17G>T
|
rs747451923
|
|
|
NM_001244008.2(KIF1A):c.1578-18G>T
|
|
|
|
NM_001244008.2(KIF1A):c.1578-2A>G
|
rs2125925871
|
|
|
NM_001244008.2(KIF1A):c.1578-3C>T
|
|
|
|
NM_001244008.2(KIF1A):c.1578-4G>T
|
rs376897164
|
|
|
NM_001244008.2(KIF1A):c.1578-5C>A
|
rs779796603
|
|
|
NM_001244008.2(KIF1A):c.1578-7C>A
|
|
|
|
NM_001244008.2(KIF1A):c.1578-7C>G
|
rs748724769
|
|
|
NM_001244008.2(KIF1A):c.1578-9A>C
|
|
|
|
NM_001244008.2(KIF1A):c.1578-9A>G
|
rs2125925914
|
|
|
NM_001244008.2(KIF1A):c.1586G>C (p.Arg529Thr)
|
rs2125925853
|
|
|
NM_001244008.2(KIF1A):c.1587G>A (p.Arg529=)
|
rs1318367754
|
|
|
NM_001244008.2(KIF1A):c.1594G>T (p.Gly532Cys)
|
|
|
|
NM_001244008.2(KIF1A):c.1601G>A (p.Arg534Lys)
|
|
|
|
NM_001244008.2(KIF1A):c.1603C>T (p.Arg535Trp)
|
rs752692031
|
|
|
NM_001244008.2(KIF1A):c.1604G>A (p.Arg535Gln)
|
rs2125925799
|
|
|
NM_001244008.2(KIF1A):c.1610A>G (p.Asp537Gly)
|
|
|
|
NM_001244008.2(KIF1A):c.1618C>T (p.Leu540=)
|
rs965484284
|
|
|
NM_001244008.2(KIF1A):c.1622G>T (p.Ser541Ile)
|
rs2051286208
|
|
|
NM_001244008.2(KIF1A):c.1623T>C (p.Ser541=)
|
|
|
|
NM_001244008.2(KIF1A):c.1629C>T (p.His543=)
|
rs765564119
|
|
|
NM_001244008.2(KIF1A):c.1630T>C (p.Phe544Leu)
|
|
|
|
NM_001244008.2(KIF1A):c.1636A>G (p.Lys546Glu)
|
rs2125925707
|
|
|
NM_001244008.2(KIF1A):c.1647C>T (p.His549=)
|
|
|
|
NM_001244008.2(KIF1A):c.1658G>A (p.Arg553Gln)
|
|
|
|
NM_001244008.2(KIF1A):c.1662C>A (p.Ser554Arg)
|
rs2051283497
|
|
|
NM_001244008.2(KIF1A):c.1669A>G (p.Arg557Gly)
|
|
|
|
NM_001244008.2(KIF1A):c.1673G>A (p.Gly558Glu)
|
rs1553634474
|
|
|
NM_001244008.2(KIF1A):c.167A>G (p.Tyr56Cys)
|
rs2055347610
|
|
|
NM_001244008.2(KIF1A):c.1681G>A (p.Glu561Lys)
|
rs957698209
|
|
|
NM_001244008.2(KIF1A):c.1684+19C>A
|
|
|
|
NM_001244008.2(KIF1A):c.1684+20C>T
|
|
|
|
NM_001244008.2(KIF1A):c.1685-11C>A
|
rs1292354329
|
|
|
NM_001244008.2(KIF1A):c.1685-12C>T
|
|
|
|
NM_001244008.2(KIF1A):c.1685-13A>C
|
rs575193535
|
|
|
NM_001244008.2(KIF1A):c.1685-13A>G
|
rs575193535
|
|
|
NM_001244008.2(KIF1A):c.1685-14C>G
|
|
|
|
NM_001244008.2(KIF1A):c.1685-8T>A
|
|
|
|
NM_001244008.2(KIF1A):c.1686T>A (p.Ala562=)
|
|
|
|
NM_001244008.2(KIF1A):c.1692G>T (p.Val564=)
|
rs2051095456
|
|
|
NM_001244008.2(KIF1A):c.1693dup (p.Thr565fs)
|
|
|
|
NM_001244008.2(KIF1A):c.1694C>A (p.Thr565Asn)
|
rs2125918613
|
|
|
NM_001244008.2(KIF1A):c.169T>C (p.Trp57Arg)
|
rs2055347286
|
|
|
NM_001244008.2(KIF1A):c.16G>C (p.Val6Leu)
|
|
|
|
NM_001244008.2(KIF1A):c.1703C>T (p.Pro568Leu)
|
|
|
|
NM_001244008.2(KIF1A):c.170G>T (p.Trp57Leu)
|
|
|
|
NM_001244008.2(KIF1A):c.1722C>T (p.Thr574=)
|
|
|
|
NM_001244008.2(KIF1A):c.173C>G (p.Ser58Trp)
|
rs672601362
|
|
|
NM_001244008.2(KIF1A):c.173C>T (p.Ser58Leu)
|
rs672601362
|
|
|
NM_001244008.2(KIF1A):c.1740A>G (p.Lys580=)
|
rs2051091768
|
|
|
NM_001244008.2(KIF1A):c.174G>T (p.Ser58=)
|
|
|
|
NM_001244008.2(KIF1A):c.1755C>T (p.Ser585=)
|
|
|
|
NM_001244008.2(KIF1A):c.1763G>A (p.Arg588His)
|
rs556945776
|
|
|
NM_001244008.2(KIF1A):c.1768+10G>A
|
|
|
|
NM_001244008.2(KIF1A):c.1768+4T>C
|
rs780489790
|
|
|
NM_001244008.2(KIF1A):c.1768+6G>A
|
|
|
|
NM_001244008.2(KIF1A):c.1769-13C>T
|
|
|
|
NM_001244008.2(KIF1A):c.1769-14C>T
|
|
|
|
NM_001244008.2(KIF1A):c.1769-17G>T
|
|
|
|
NM_001244008.2(KIF1A):c.1769-19C>G
|
rs2125906461
|
|
|
NM_001244008.2(KIF1A):c.1769-20C>T
|
|
|
|
NM_001244008.2(KIF1A):c.1769-5C>T
|
|
|
|
NM_001244008.2(KIF1A):c.1769-6C>A
|
rs1575590562
|
|
|
NM_001244008.2(KIF1A):c.1772A>G (p.Asn591Ser)
|
|
|
|
NM_001244008.2(KIF1A):c.1775G>A (p.Arg592His)
|
rs2050759865
|
|
|
NM_001244008.2(KIF1A):c.1776C>A (p.Arg592=)
|
|
|
|
NM_001244008.2(KIF1A):c.1777A>G (p.Ile593Val)
|
|
|
|
NM_001244008.2(KIF1A):c.177C>T (p.His59=)
|
|
|
|
NM_001244008.2(KIF1A):c.1782C>T (p.Ile594=)
|
|
|
|
NM_001244008.2(KIF1A):c.1783A>G (p.Met595Val)
|
rs2125906210
|
|
|
NM_001244008.2(KIF1A):c.1797T>C (p.His599=)
|
|
|
|
NM_001244008.2(KIF1A):c.1800G>A (p.Val600=)
|
|
|
|
NM_001244008.2(KIF1A):c.1803C>T (p.Phe601=)
|
rs2125906123
|
|
|
NM_001244008.2(KIF1A):c.1804C>T (p.Arg602Trp)
|
rs1020847767
|
|
|
NM_001244008.2(KIF1A):c.1818C>A (p.Pro606=)
|
rs757613674
|
|
|
NM_001244008.2(KIF1A):c.1818C>T (p.Pro606=)
|
|
|
|
NM_001244008.2(KIF1A):c.1819G>A (p.Glu607Lys)
|
rs2050754546
|
|
|
NM_001244008.2(KIF1A):c.1826C>T (p.Ala609Val)
|
|
|
|
NM_001244008.2(KIF1A):c.1827C>G (p.Ala609=)
|
|
|
|
NM_001244008.2(KIF1A):c.1828C>T (p.Arg610Trp)
|
|
|
|
NM_001244008.2(KIF1A):c.1829G>A (p.Arg610Gln)
|
|
|
|
NM_001244008.2(KIF1A):c.182C>T (p.Ser61Leu)
|
rs2126098498
|
|
|
NM_001244008.2(KIF1A):c.183+15C>G
|
|
|
|
NM_001244008.2(KIF1A):c.183+16G>A
|
|
|
|
NM_001244008.2(KIF1A):c.183+16G>C
|
|
|
|
NM_001244008.2(KIF1A):c.183+16G>T
|
rs117171329
|
|
|
NM_001244008.2(KIF1A):c.183+18G>A
|
|
|
|
NM_001244008.2(KIF1A):c.183+9G>A
|
|
|
|
NM_001244008.2(KIF1A):c.1834G>A (p.Glu612Lys)
|
|
|
|
NM_001244008.2(KIF1A):c.1837C>G (p.Arg613Gly)
|
rs114337184
|
|
|
NM_001244008.2(KIF1A):c.184-15T>A
|
|
|
|
NM_001244008.2(KIF1A):c.184-15T>C
|
|
|
|
NM_001244008.2(KIF1A):c.184-16C>T
|
|
|
|
NM_001244008.2(KIF1A):c.184-5_184-3del
|
|
|
|
NM_001244008.2(KIF1A):c.184-7C>T
|
|
|
|
NM_001244008.2(KIF1A):c.1843C>T (p.Arg615Cys)
|
|
|
|
NM_001244008.2(KIF1A):c.1845C>T (p.Arg615=)
|
|
|
|
NM_001244008.2(KIF1A):c.1853G>A (p.Cys618Tyr)
|
rs2125905862
|
|
|
NM_001244008.2(KIF1A):c.1856C>A (p.Ala619Glu)
|
|
|
|
NM_001244008.2(KIF1A):c.1857G>A (p.Ala619=)
|
|
|
|
NM_001244008.2(KIF1A):c.1858G>A (p.Glu620Lys)
|
rs2125905821
|
|
|
NM_001244008.2(KIF1A):c.1858G>C (p.Glu620Gln)
|
|
|
|
NM_001244008.2(KIF1A):c.1859A>T (p.Glu620Val)
|
|
|
|
NM_001244008.2(KIF1A):c.1860G>A (p.Glu620=)
|
rs1575590433
|
|
|
NM_001244008.2(KIF1A):c.1873C>G (p.Pro625Ala)
|
|
|
|
NM_001244008.2(KIF1A):c.1881C>T (p.Asp627=)
|
|
|
|
NM_001244008.2(KIF1A):c.1885G>A (p.Ala629Thr)
|
|
|
|
NM_001244008.2(KIF1A):c.1891G>A (p.Ala631Thr)
|
|
|
|
NM_001244008.2(KIF1A):c.1892C>T (p.Ala631Val)
|
rs2125905734
|
|
|
NM_001244008.2(KIF1A):c.1894C>T (p.Gln632Ter)
|
rs2050749062
|
|
|
NM_001244008.2(KIF1A):c.1912A>G (p.Lys638Glu)
|
|
|
|
NM_001244008.2(KIF1A):c.1914G>A (p.Lys638=)
|
|
|
|
NM_001244008.2(KIF1A):c.1917G>A (p.Gln639=)
|
|
|
|
NM_001244008.2(KIF1A):c.1923C>A (p.Ile641=)
|
|
|
|
NM_001244008.2(KIF1A):c.1949+13C>A
|
|
|
|
NM_001244008.2(KIF1A):c.1949+17C>T
|
|
|
|
NM_001244008.2(KIF1A):c.1949+5G>A
|
|
|
|
NM_001244008.2(KIF1A):c.1949+8G>A
|
|
|
|
NM_001244008.2(KIF1A):c.194T>C (p.Ile65Thr)
|
rs2055194876
|
|
|
NM_001244008.2(KIF1A):c.1950-12G>A
|
|
|
|
NM_001244008.2(KIF1A):c.1950-14A>G
|
|
|
|
NM_001244008.2(KIF1A):c.1950-16C>T
|
|
|
|
NM_001244008.2(KIF1A):c.1950-7del
|
rs2125904899
|
|
|
NM_001244008.2(KIF1A):c.195C>T (p.Ile65=)
|
|
|
|
NM_001244008.2(KIF1A):c.1965G>C (p.Glu655Asp)
|
|
|
|
NM_001244008.2(KIF1A):c.1974C>T (p.Tyr658=)
|
rs1231529946
|
|
|
NM_001244008.2(KIF1A):c.1976G>A (p.Arg659His)
|
|
|
|
NM_001244008.2(KIF1A):c.1978C>G (p.Arg660Gly)
|
|
|
|
NM_001244008.2(KIF1A):c.1978C>T (p.Arg660Cys)
|
|
|
|
NM_001244008.2(KIF1A):c.1980C>A (p.Arg660=)
|
rs1355197070
|
|
|
NM_001244008.2(KIF1A):c.1984C>T (p.Arg662Trp)
|
|
|
|
NM_001244008.2(KIF1A):c.1985G>A (p.Arg662Gln)
|
|
|
|
NM_001244008.2(KIF1A):c.1985G>T (p.Arg662Leu)
|
|
|
|
NM_001244008.2(KIF1A):c.1986G>A (p.Arg662=)
|
|
|
|
NM_001244008.2(KIF1A):c.1995C>T (p.Ala665=)
|
|
|
|
NM_001244008.2(KIF1A):c.1998C>T (p.Thr666=)
|
|
|
|
NM_001244008.2(KIF1A):c.1999T>C (p.Tyr667His)
|
|
|
|
NM_001244008.2(KIF1A):c.2001C>T (p.Tyr667=)
|
rs1432995323
|
|
|
NM_001244008.2(KIF1A):c.200dup (p.Tyr67Ter)
|
|
|
|
NM_001244008.2(KIF1A):c.2010G>A (p.Glu670=)
|
|
|
|
NM_001244008.2(KIF1A):c.2011C>G (p.Gln671Glu)
|
rs2125904526
|
|
|
NM_001244008.2(KIF1A):c.2016G>A (p.Gln672=)
|
rs2125904510
|
|
|
NM_001244008.2(KIF1A):c.2017C>T (p.Arg673Trp)
|
rs2125904496
|
|
|
NM_001244008.2(KIF1A):c.2022+17del
|
|
|
|
NM_001244008.2(KIF1A):c.2022+18G>A
|
|
|
|
NM_001244008.2(KIF1A):c.2022+3G>A
|
rs566702367
|
|
|
NM_001244008.2(KIF1A):c.2022+4A>G
|
rs1019495658
|
|
|
NM_001244008.2(KIF1A):c.2022+9C>A
|
|
|
|
NM_001244008.2(KIF1A):c.2023-13T>C
|
|
|
|
NM_001244008.2(KIF1A):c.2023-14C>T
|
|
|
|
NM_001244008.2(KIF1A):c.2023-3C>T
|
|
|
|
NM_001244008.2(KIF1A):c.2023-9T>A
|
|
|
|
NM_001244008.2(KIF1A):c.2026T>A (p.Tyr676Asn)
|
|
|
|
NM_001244008.2(KIF1A):c.202G>T (p.Ala68Ser)
|
|
|
|
NM_001244008.2(KIF1A):c.2032A>G (p.Ser678Gly)
|
rs2125902938
|
|
|
NM_001244008.2(KIF1A):c.2034C>G (p.Ser678Arg)
|
|
|
|
NM_001244008.2(KIF1A):c.2037G>A (p.Lys679=)
|
|
|
|
NM_001244008.2(KIF1A):c.2040G>A (p.Leu680=)
|
rs2050689146
|
|
|
NM_001244008.2(KIF1A):c.2046T>C (p.Ala682=)
|
rs2050688646
|
|
|
NM_001244008.2(KIF1A):c.204G>A (p.Ala68=)
|
rs141052770
|
|
|
NM_001244008.2(KIF1A):c.204G>T (p.Ala68=)
|
rs141052770
|
|
|
NM_001244008.2(KIF1A):c.2055G>A (p.Lys685=)
|
|
|
|
NM_001244008.2(KIF1A):c.2059A>G (p.Met687Val)
|
|
|
|
NM_001244008.2(KIF1A):c.2066C>T (p.Ser689Phe)
|
rs1553633725
|
|
|
NM_001244008.2(KIF1A):c.2069G>A (p.Arg690Lys)
|
rs887974445
|
|
|
NM_001244008.2(KIF1A):c.206C>G (p.Ser69Trp)
|
rs786200949
|
|
|
NM_001244008.2(KIF1A):c.206C>T (p.Ser69Leu)
|
rs786200949
|
|
|
NM_001244008.2(KIF1A):c.2077C>A (p.Pro693Thr)
|
|
|
|
NM_001244008.2(KIF1A):c.207G>C (p.Ser69=)
|
|
|
|
NM_001244008.2(KIF1A):c.2089G>A (p.Glu697Lys)
|
|
|
|
NM_001244008.2(KIF1A):c.2089GAG[6] (p.Glu701dup)
|
rs771003443
|
|
|
NM_001244008.2(KIF1A):c.208C>A (p.Gln70Lys)
|
|
|
|
NM_001244008.2(KIF1A):c.2091G>A (p.Glu697=)
|
|
|
|
NM_001244008.2(KIF1A):c.2094G>A (p.Glu698=)
|
|
|
|
NM_001244008.2(KIF1A):c.2107G>A (p.Glu703Lys)
|
rs766192418
|
|
|
NM_001244008.2(KIF1A):c.210G>A (p.Gln70=)
|
|
|
|
NM_001244008.2(KIF1A):c.2116+11A>C
|
rs1191204376
|
|
|
NM_001244008.2(KIF1A):c.2116+11A>G
|
|
|
|
NM_001244008.2(KIF1A):c.2116+18C>T
|
|
|
|
NM_001244008.2(KIF1A):c.2116+18del
|
|
|
|
NM_001244008.2(KIF1A):c.2116+1G>C
|
rs1553633687
|
|
|
NM_001244008.2(KIF1A):c.2116+6G>A
|
|
|
|
NM_001244008.2(KIF1A):c.2116+8G>T
|
rs761955667
|
|
|
NM_001244008.2(KIF1A):c.2116+9T>A
|
|
|
|
NM_001244008.2(KIF1A):c.2116+9T>C
|
rs199922247
|
|
|
NM_001244008.2(KIF1A):c.2117-12del
|
rs2125894817
|
|
|
NM_001244008.2(KIF1A):c.2117-16dup
|
rs2125894838
|
|
|
NM_001244008.2(KIF1A):c.2117-17G>A
|
|
|
|
NM_001244008.2(KIF1A):c.2117-19G>T
|
|
|
|
NM_001244008.2(KIF1A):c.2117-5C>G
|
|
|
|
NM_001244008.2(KIF1A):c.2121G>A (p.Gln707=)
|
|
|
|
NM_001244008.2(KIF1A):c.2125A>G (p.Thr709Ala)
|
|
|
|
NM_001244008.2(KIF1A):c.2131C>A (p.Arg711=)
|
|
|
|
NM_001244008.2(KIF1A):c.2131C>T (p.Arg711Trp)
|
rs767543598
|
|
|
NM_001244008.2(KIF1A):c.2135A>C (p.Glu712Ala)
|
|
|
|
NM_001244008.2(KIF1A):c.2140G>A (p.Glu714Lys)
|
rs2125894580
|
|
|
NM_001244008.2(KIF1A):c.2142G>A (p.Glu714=)
|
|
|
|
NM_001244008.2(KIF1A):c.2142G>C (p.Glu714Asp)
|
|
|
|
NM_001244008.2(KIF1A):c.2143C>G (p.Leu715Val)
|
rs775705762
|
|
|
NM_001244008.2(KIF1A):c.2150T>C (p.Leu717Pro)
|
rs2125894495
|
|
|
NM_001244008.2(KIF1A):c.2156C>T (p.Ala719Val)
|
|
|
|
NM_001244008.2(KIF1A):c.2162G>A (p.Arg721Gln)
|
rs1159860840
|
|
|
NM_001244008.2(KIF1A):c.2164AAGTGG[3] (p.722KW[3])
|
rs2125894377
|
|
|
NM_001244008.2(KIF1A):c.2166G>A (p.Lys722=)
|
|
|
|
NM_001244008.2(KIF1A):c.218T>C (p.Val73Ala)
|
rs2126092219
|
|
|
NM_001244008.2(KIF1A):c.2194C>T (p.Arg732Trp)
|
rs750310823
|
|
|
NM_001244008.2(KIF1A):c.2195G>A (p.Arg732Gln)
|
rs2050497130
|
|
|
NM_001244008.2(KIF1A):c.2196G>C (p.Arg732=)
|
rs2125894254
|
|
|
NM_001244008.2(KIF1A):c.2199C>T (p.Asp733=)
|
rs1242337363
|
|
|
NM_001244008.2(KIF1A):c.21G>A (p.Lys7=)
|
rs1287769804
|
|
|
NM_001244008.2(KIF1A):c.2200C>T (p.Leu734=)
|
|
|
|
NM_001244008.2(KIF1A):c.2211C>G (p.Gly737=)
|
|
|
|
NM_001244008.2(KIF1A):c.2213A>G (p.Asn738Ser)
|
rs1559506707
|
|
|
NM_001244008.2(KIF1A):c.2215G>C (p.Ala739Pro)
|
rs1373179079
|
|
|
NM_001244008.2(KIF1A):c.2218A>G (p.Ile740Val)
|
rs2125894030
|
|
|
NM_001244008.2(KIF1A):c.221A>G (p.Tyr74Cys)
|
rs2055191530
|
|
|
NM_001244008.2(KIF1A):c.2227A>G (p.Lys743Glu)
|
|
|
|
NM_001244008.2(KIF1A):c.2237A>G (p.Asn746Ser)
|
|
|
|
NM_001244008.2(KIF1A):c.224G>A (p.Arg75Gln)
|
|
|
|
NM_001244008.2(KIF1A):c.2251G>A (p.Glu751Lys)
|
rs2050492597
|
|
|
NM_001244008.2(KIF1A):c.2259A>G (p.Lys753=)
|
|
|
|
NM_001244008.2(KIF1A):c.2265+19G>A
|
rs748907935
|
|
|
NM_001244008.2(KIF1A):c.2265+5G>A
|
rs2050490864
|
|
|
NM_001244008.2(KIF1A):c.2266-12C>T
|
|
|
|
NM_001244008.2(KIF1A):c.2266-17A>G
|
|
|
|
NM_001244008.2(KIF1A):c.2266-20del
|
|
|
|
NM_001244008.2(KIF1A):c.2266-4A>C
|
rs760023084
|
|
|
NM_001244008.2(KIF1A):c.2266-7G>A
|
|
|
|
NM_001244008.2(KIF1A):c.2266-9_2266-8del
|
|
|
|
NM_001244008.2(KIF1A):c.2270_2271del (p.Gln757fs)
|
rs2125890780
|
|
|
NM_001244008.2(KIF1A):c.2273T>G (p.Phe758Cys)
|
|
|
|
NM_001244008.2(KIF1A):c.2280T>C (p.Phe760=)
|
rs1575587120
|
|
|
NM_001244008.2(KIF1A):c.2291C>A (p.Thr764Lys)
|
|
|
|
NM_001244008.2(KIF1A):c.2294A>G (p.Asp765Gly)
|
rs2125890668
|
|
|
NM_001244008.2(KIF1A):c.2299C>T (p.Leu767Phe)
|
rs1402187925
|
|
|
NM_001244008.2(KIF1A):c.2304C>T (p.Tyr768=)
|
rs1479375354
|
|
|
NM_001244008.2(KIF1A):c.2310T>A (p.Pro770=)
|
|
|
|
NM_001244008.2(KIF1A):c.2314C>T (p.Pro772Ser)
|
rs1254232491
|
|
|
NM_001244008.2(KIF1A):c.2317C>T (p.Pro773Ser)
|
|
|
|
NM_001244008.2(KIF1A):c.2319C>A (p.Pro773=)
|
rs372521119
|
|
|
NM_001244008.2(KIF1A):c.2321A>T (p.Asp774Val)
|
|
|
|
NM_001244008.2(KIF1A):c.2322C>A (p.Asp774Glu)
|
|
|
|
NM_001244008.2(KIF1A):c.2323C>A (p.Leu775Met)
|
|
|
|
NM_001244008.2(KIF1A):c.2325G>A (p.Leu775=)
|
|
|
|
NM_001244008.2(KIF1A):c.2328G>A (p.Leu776=)
|
|
|
|
NM_001244008.2(KIF1A):c.2328G>T (p.Leu776=)
|
rs2125890489
|
|
|
NM_001244008.2(KIF1A):c.2329C>T (p.Pro777Ser)
|
|
|
|
NM_001244008.2(KIF1A):c.232G>A (p.Gly78Ser)
|
rs1057518760
|
|
|
NM_001244008.2(KIF1A):c.232G>C (p.Gly78Arg)
|
rs1057518760
|
|
|
NM_001244008.2(KIF1A):c.2331C>G (p.Pro777=)
|
rs201495091
|
|
|
NM_001244008.2(KIF1A):c.233G>A (p.Gly78Asp)
|
rs1575637048
|
|
|
NM_001244008.2(KIF1A):c.2342C>A (p.Ala781Asp)
|
|
|
|
NM_001244008.2(KIF1A):c.2345A>G (p.Lys782Arg)
|
|
|
|
NM_001244008.2(KIF1A):c.2347G>C (p.Asp783His)
|
rs1441080561
|
|
|
NM_001244008.2(KIF1A):c.2347G>T (p.Asp783Tyr)
|
rs1441080561
|
|
|
NM_001244008.2(KIF1A):c.2349C>T (p.Asp783=)
|
|
|
|
NM_001244008.2(KIF1A):c.234C>A (p.Gly78=)
|
rs61744930
|
|
|
NM_001244008.2(KIF1A):c.2350C>A (p.Arg784=)
|
|
|
|
NM_001244008.2(KIF1A):c.2350C>G (p.Arg784Gly)
|
rs1327297188
|
|
|
NM_001244008.2(KIF1A):c.2350C>T (p.Arg784Ter)
|
rs1327297188
|
|
|
NM_001244008.2(KIF1A):c.2351G>A (p.Arg784Gln)
|
rs375290825
|
|
|
NM_001244008.2(KIF1A):c.2360G>A (p.Arg787Gln)
|
rs372487596
|
|
|
NM_001244008.2(KIF1A):c.2360G>T (p.Arg787Leu)
|
rs372487596
|
|
|
NM_001244008.2(KIF1A):c.2367C>T (p.Phe789=)
|
|
|
|
NM_001244008.2(KIF1A):c.2368C>T (p.Pro790Ser)
|
|
|
|
NM_001244008.2(KIF1A):c.2371C>A (p.Arg791Ser)
|
|
|
|
NM_001244008.2(KIF1A):c.2372G>A (p.Arg791His)
|
|
|
|
NM_001244008.2(KIF1A):c.2372G>T (p.Arg791Leu)
|
|
|
|
NM_001244008.2(KIF1A):c.2375C>T (p.Thr792Ile)
|
|
|
|
NM_001244008.2(KIF1A):c.237G>A (p.Glu79=)
|
|
|
|
NM_001244008.2(KIF1A):c.2389G>T (p.Glu797Ter)
|
rs2125889990
|
|
|
NM_001244008.2(KIF1A):c.2391G>A (p.Glu797=)
|
rs1575586921
|
|
|
NM_001244008.2(KIF1A):c.2397G>A (p.Gln799=)
|
rs2050402788
|
|
|
NM_001244008.2(KIF1A):c.23T>C (p.Val8Ala)
|
|
|
|
NM_001244008.2(KIF1A):c.2401C>A (p.Gln801Lys)
|
rs2125889915
|
|
|
NM_001244008.2(KIF1A):c.2401C>G (p.Gln801Glu)
|
|
|
|
NM_001244008.2(KIF1A):c.2413G>A (p.Ala805Thr)
|
rs2125889858
|
|
|
NM_001244008.2(KIF1A):c.2415C>A (p.Ala805=)
|
|
|
|
NM_001244008.2(KIF1A):c.2423A>G (p.Tyr808Cys)
|
|
|
|
NM_001244008.2(KIF1A):c.2424C>T (p.Tyr808=)
|
|
|
|
NM_001244008.2(KIF1A):c.242T>C (p.Met81Thr)
|
|
|
|
NM_001244008.2(KIF1A):c.2430G>T (p.Thr810=)
|
rs371805653
|
|
|
NM_001244008.2(KIF1A):c.2435A>T (p.Glu812Val)
|
|
|
|
NM_001244008.2(KIF1A):c.2441T>A (p.Leu814His)
|
|
|
|
NM_001244008.2(KIF1A):c.2444+10G>C
|
|
|
|
NM_001244008.2(KIF1A):c.2444+14G>A
|
|
|
|
NM_001244008.2(KIF1A):c.2444+16C>T
|
|
|
|
NM_001244008.2(KIF1A):c.2444+17G>T
|
rs749470460
|
|
|
NM_001244008.2(KIF1A):c.2444+6G>T
|
|
|
|
NM_001244008.2(KIF1A):c.2444+8T>G
|
|
|
|
NM_001244008.2(KIF1A):c.2445-11C>T
|
rs759214934
|
|
|
NM_001244008.2(KIF1A):c.2445-15C>T
|
rs2050133127
|
|
|
NM_001244008.2(KIF1A):c.2445-16C>A
|
|
|
|
NM_001244008.2(KIF1A):c.2445-17C>T
|
|
|
|
NM_001244008.2(KIF1A):c.2445-3del
|
|
|
|
NM_001244008.2(KIF1A):c.2445-8_2445-3del
|
|
|
|
NM_001244008.2(KIF1A):c.2449C>A (p.Arg817Ser)
|
|
|
|
NM_001244008.2(KIF1A):c.2450G>A (p.Arg817His)
|
|
|
|
NM_001244008.2(KIF1A):c.2451del (p.Leu818fs)
|
|
|
|
NM_001244008.2(KIF1A):c.2454G>A (p.Leu818=)
|
|
|
|
NM_001244008.2(KIF1A):c.2455G>A (p.Asp819Asn)
|
|
|
|
NM_001244008.2(KIF1A):c.2460G>A (p.Leu820=)
|
|
|
|
NM_001244008.2(KIF1A):c.2464C>A (p.Arg822=)
|
|
|
|
NM_001244008.2(KIF1A):c.2464C>T (p.Arg822Trp)
|
rs1328033713
|
|
|
NM_001244008.2(KIF1A):c.2466G>T (p.Arg822=)
|
rs2125875605
|
|
|
NM_001244008.2(KIF1A):c.2488G>A (p.Glu830Lys)
|
|
|
|
NM_001244008.2(KIF1A):c.248A>T (p.Gln83Leu)
|
rs1575637032
|
|
|
NM_001244008.2(KIF1A):c.2493G>A (p.Val831=)
|
|
|
|
NM_001244008.2(KIF1A):c.2493G>T (p.Val831=)
|
rs201861261
|
|
|
NM_001244008.2(KIF1A):c.2497T>C (p.Ser833Pro)
|
|
|
|
NM_001244008.2(KIF1A):c.2500A>G (p.Ser834Gly)
|
|
|
|
NM_001244008.2(KIF1A):c.2503G>A (p.Val835Ile)
|
|
|
|
NM_001244008.2(KIF1A):c.2508C>A (p.Ile836=)
|
|
|
|
NM_001244008.2(KIF1A):c.2509G>A (p.Glu837Lys)
|
|
|
|
NM_001244008.2(KIF1A):c.2512G>T (p.Asp838Tyr)
|
|
|
|
NM_001244008.2(KIF1A):c.2517T>C (p.Cys839=)
|
|
|
|
NM_001244008.2(KIF1A):c.2523C>G (p.Asn841Lys)
|
|
|
|
NM_001244008.2(KIF1A):c.2524G>A (p.Val842Met)
|
|
|
|
NM_001244008.2(KIF1A):c.2530A>G (p.Thr844Ala)
|
|
|
|
NM_001244008.2(KIF1A):c.2533G>T (p.Gly845Cys)
|
rs761671317
|
|
|
NM_001244008.2(KIF1A):c.2535C>T (p.Gly845=)
|
|
|
|
NM_001244008.2(KIF1A):c.2541C>T (p.Asp847=)
|
|
|
|
NM_001244008.2(KIF1A):c.2544C>T (p.Pro848=)
|
rs2125875170
|
|
|
NM_001244008.2(KIF1A):c.2547C>T (p.Phe849=)
|
rs2050120947
|
|
|
NM_001244008.2(KIF1A):c.2548T>C (p.Tyr850His)
|
|
|
|
NM_001244008.2(KIF1A):c.254C>A (p.Ala85Asp)
|
rs1553639041
|
|
|
NM_001244008.2(KIF1A):c.254C>G (p.Ala85Gly)
|
rs1553639041
|
|
|
NM_001244008.2(KIF1A):c.2553C>T (p.Asp851=)
|
rs2050120319
|
|
|
NM_001244008.2(KIF1A):c.2554C>T (p.Arg852Cys)
|
rs1174253803
|
|
|
NM_001244008.2(KIF1A):c.2556C>T (p.Arg852=)
|
|
|
|
NM_001244008.2(KIF1A):c.2557T>C (p.Phe853Leu)
|
|
|
|
NM_001244008.2(KIF1A):c.2568C>T (p.Phe856=)
|
rs2125875017
|
|
|
NM_001244008.2(KIF1A):c.2581A>C (p.Ser861Arg)
|
|
|
|
NM_001244008.2(KIF1A):c.2582+11C>G
|
|
|
|
NM_001244008.2(KIF1A):c.2582+14C>G
|
|
|
|
NM_001244008.2(KIF1A):c.2582+17T>G
|
rs1407757292
|
|
|
NM_001244008.2(KIF1A):c.2582+19C>T
|
rs2125874702
|
|
|
NM_001244008.2(KIF1A):c.2582+19_2582+22del
|
|
|
|
NM_001244008.2(KIF1A):c.2582+1G>A
|
rs2125874950
|
|
|
NM_001244008.2(KIF1A):c.2582+5del
|
rs1245211774
|
|
|
NM_001244008.2(KIF1A):c.2582+6C>T
|
|
|
|
NM_001244008.2(KIF1A):c.2582+8C>A
|
rs2125874867
|
|
|
NM_001244008.2(KIF1A):c.2582+9C>A
|
|
|
|
NM_001244008.2(KIF1A):c.266A>T (p.Tyr89Phe)
|
|
|
|
NM_001244008.2(KIF1A):c.2721GGA[10] (p.Glu917del)
|
rs10594016
|
|
|
NM_001244008.2(KIF1A):c.273G>T (p.Val91=)
|
rs1409707032
|
|
|
NM_001244008.2(KIF1A):c.278T>A (p.Ile93Asn)
|
|
|
|
NM_001244008.2(KIF1A):c.278_307del (p.Ile93_Gly102del)
|
|
|
|
NM_001244008.2(KIF1A):c.283G>A (p.Ala95Thr)
|
rs1466280322
|
|
|
NM_001244008.2(KIF1A):c.284C>A (p.Ala95Asp)
|
rs2126091878
|
|
|
NM_001244008.2(KIF1A):c.284C>T (p.Ala95Val)
|
rs2126091878
|
|
|
NM_001244008.2(KIF1A):c.2859-11C>T
|
|
|
|
NM_001244008.2(KIF1A):c.2859-17C>T
|
|
|
|
NM_001244008.2(KIF1A):c.2859-18G>C
|
rs150076186
|
|
|
NM_001244008.2(KIF1A):c.2859-8C>T
|
|
|
|
NM_001244008.2(KIF1A):c.2859G>A (p.Arg953=)
|
|
|
|
NM_001244008.2(KIF1A):c.2866G>A (p.Val956Met)
|
|
|
|
NM_001244008.2(KIF1A):c.2871C>T (p.Tyr957=)
|
|
|
|
NM_001244008.2(KIF1A):c.2872C>G (p.Leu958Val)
|
|
|
|
NM_001244008.2(KIF1A):c.2874G>A (p.Leu958=)
|
|
|
|
NM_001244008.2(KIF1A):c.2880C>A (p.Asn960Lys)
|
rs2049088933
|
|
|
NM_001244008.2(KIF1A):c.2881C>T (p.Leu961=)
|
|
|
|
NM_001244008.2(KIF1A):c.2886G>A (p.Leu962=)
|
|
|
|
NM_001244008.2(KIF1A):c.2888A>T (p.Tyr963Phe)
|
rs2125825238
|
|
|
NM_001244008.2(KIF1A):c.288T>C (p.Tyr96=)
|
|
|
|
NM_001244008.2(KIF1A):c.2890C>G (p.Pro964Ala)
|
|
|
|
NM_001244008.2(KIF1A):c.2892C>G (p.Pro964=)
|
rs771617148
|
|
|
NM_001244008.2(KIF1A):c.2892C>T (p.Pro964=)
|
|
|
|
NM_001244008.2(KIF1A):c.2905C>G (p.His969Asp)
|
|
|
|
NM_001244008.2(KIF1A):c.2907C>T (p.His969=)
|
rs1575571380
|
|
|
NM_001244008.2(KIF1A):c.2908C>G (p.Arg970Gly)
|
|
|
|
NM_001244008.2(KIF1A):c.2917A>G (p.Ile973Val)
|
|
|
|
NM_001244008.2(KIF1A):c.2919C>T (p.Ile973=)
|
|
|
|
NM_001244008.2(KIF1A):c.291G>A (p.Gly97=)
|
rs2126091844
|
|
|
NM_001244008.2(KIF1A):c.2926G>A (p.Glu976Lys)
|
rs1488991591
|
|
|
NM_001244008.2(KIF1A):c.2931G>A (p.Lys977=)
|
|
|
|
NM_001244008.2(KIF1A):c.2935G>A (p.Glu979Lys)
|
|
|
|
NM_001244008.2(KIF1A):c.2938G>A (p.Val980Met)
|
|
|
|
NM_001244008.2(KIF1A):c.293A>G (p.Gln98Arg)
|
rs2126091834
|
|
|
NM_001244008.2(KIF1A):c.2946C>A (p.Gly982=)
|
rs763345238
|
|
|
NM_001244008.2(KIF1A):c.2949C>A (p.Phe983Leu)
|
|
|
|
NM_001244008.2(KIF1A):c.2949C>T (p.Phe983=)
|
rs375672100
|
|
|
NM_001244008.2(KIF1A):c.2950C>G (p.Leu984Val)
|
|
|
|
NM_001244008.2(KIF1A):c.2956G>A (p.Val986Met)
|
|
|
|
NM_001244008.2(KIF1A):c.2956G>C (p.Val986Leu)
|
|
|
|
NM_001244008.2(KIF1A):c.2962G>T (p.Val988Phe)
|
|
|
|
NM_001244008.2(KIF1A):c.296C>T (p.Thr99Met)
|
rs387906799
|
|
|
NM_001244008.2(KIF1A):c.2970C>A (p.Ala990=)
|
|
|
|
NM_001244008.2(KIF1A):c.2971A>G (p.Ile991Val)
|
rs2125824773
|
|
|
NM_001244008.2(KIF1A):c.2977+16A>G
|
|
|
|
NM_001244008.2(KIF1A):c.2977+20C>A
|
rs770943608
|
|
|
NM_001244008.2(KIF1A):c.2977+4C>T
|
rs1447106610
|
|
|
NM_001244008.2(KIF1A):c.2978-11T>G
|
|
|
|
NM_001244008.2(KIF1A):c.2978-14T>G
|
rs964376899
|
|
|
NM_001244008.2(KIF1A):c.2978-15C>A
|
rs1259929963
|
|
|
NM_001244008.2(KIF1A):c.2978-15C>G
|
|
|
|
NM_001244008.2(KIF1A):c.2978-17C>T
|
|
|
|
NM_001244008.2(KIF1A):c.2978-20T>C
|
|
|
|
NM_001244008.2(KIF1A):c.2978-3C>T
|
rs1318205052
|
|
|
NM_001244008.2(KIF1A):c.2978-3del
|
|
|
|
NM_001244008.2(KIF1A):c.2978-8T>C
|
rs1281412370
|
|
|
NM_001244008.2(KIF1A):c.2978-9C>T
|
|
|
|
NM_001244008.2(KIF1A):c.2978C>G (p.Ala993Gly)
|
|
|
|
NM_001244008.2(KIF1A):c.2978C>T (p.Ala993Val)
|
rs2048715883
|
|
|
NM_001244008.2(KIF1A):c.2980G>A (p.Asp994Asn)
|
rs2048715379
|
|
|
NM_001244008.2(KIF1A):c.2980G>T (p.Asp994Tyr)
|
|
|
|
NM_001244008.2(KIF1A):c.2990C>A (p.Ala997Asp)
|
|
|
|
NM_001244008.2(KIF1A):c.2990C>T (p.Ala997Val)
|
|
|
|
NM_001244008.2(KIF1A):c.2992C>T (p.Pro998Ser)
|
|
|
|
NM_001244008.2(KIF1A):c.3008G>A (p.Gly1003Asp)
|
rs2125802872
|
|
|
NM_001244008.2(KIF1A):c.3009C>A (p.Gly1003=)
|
|
|
|
NM_001244008.2(KIF1A):c.300T>A (p.Gly100=)
|
|
|
|
NM_001244008.2(KIF1A):c.3013C>T (p.Arg1005Cys)
|
|
|
|
NM_001244008.2(KIF1A):c.3014G>A (p.Arg1005His)
|
|
|
|
NM_001244008.2(KIF1A):c.3029C>T (p.Ala1010Val)
|
|
|
|
NM_001244008.2(KIF1A):c.302C>A (p.Ala101Asp)
|
rs2126091776
|
|
|
NM_001244008.2(KIF1A):c.302C>T (p.Ala101Val)
|
|
|
|
NM_001244008.2(KIF1A):c.3030T>G (p.Ala1010=)
|
rs2125802677
|
|
|
NM_001244008.2(KIF1A):c.3033A>G (p.Lys1011=)
|
rs2125802666
|
|
|
NM_001244008.2(KIF1A):c.3038C>T (p.Ser1013Phe)
|
|
|
|
NM_001244008.2(KIF1A):c.3039C>T (p.Ser1013=)
|
|
|
|
NM_001244008.2(KIF1A):c.3041T>A (p.Phe1014Tyr)
|
|
|
|
NM_001244008.2(KIF1A):c.304G>A (p.Gly102Ser)
|
rs1064795534
|
|
|
NM_001244008.2(KIF1A):c.3054T>G (p.His1018Gln)
|
rs2125802513
|
|
|
NM_001244008.2(KIF1A):c.3063+13C>A
|
|
|
|
NM_001244008.2(KIF1A):c.3063+15C>T
|
|
|
|
NM_001244008.2(KIF1A):c.3063+17C>G
|
rs116040950
|
|
|
NM_001244008.2(KIF1A):c.3063+17del
|
|
|
|
NM_001244008.2(KIF1A):c.3063+7A>G
|
|
|
|
NM_001244008.2(KIF1A):c.3063+8G>A
|
|
|
|
NM_001244008.2(KIF1A):c.3063+9C>T
|
|
|
|
NM_001244008.2(KIF1A):c.3064-11C>A
|
|
|
|
NM_001244008.2(KIF1A):c.3064-7T>C
|
|
|
|
NM_001244008.2(KIF1A):c.3064-9T>C
|
|
|
|
NM_001244008.2(KIF1A):c.3069G>A (p.Gln1023=)
|
|
|
|
NM_001244008.2(KIF1A):c.3069G>C (p.Gln1023His)
|
|
|
|
NM_001244008.2(KIF1A):c.3072C>G (p.Ser1024=)
|
rs73102625
|
|
|
NM_001244008.2(KIF1A):c.3072C>T (p.Ser1024=)
|
rs73102625
|
|
|
NM_001244008.2(KIF1A):c.3074_3075dup (p.Cys1027fs)
|
|
|
|
NM_001244008.2(KIF1A):c.3081C>T (p.Cys1027=)
|
rs527351529
|
|
|
NM_001244008.2(KIF1A):c.3084C>T (p.Pro1028=)
|
|
|
|
NM_001244008.2(KIF1A):c.3087G>A (p.Val1029=)
|
|
|
|
NM_001244008.2(KIF1A):c.3087G>C (p.Val1029=)
|
rs2125793925
|
|
|
NM_001244008.2(KIF1A):c.3093G>A (p.Gly1031=)
|
|
|
|
NM_001244008.2(KIF1A):c.3096G>T (p.Met1032Ile)
|
|
|
|
NM_001244008.2(KIF1A):c.3097T>C (p.Ser1033Pro)
|
|
|
|
NM_001244008.2(KIF1A):c.3101G>T (p.Arg1034Leu)
|
rs375775494
|
|
|
NM_001244008.2(KIF1A):c.3107G>A (p.Gly1036Glu)
|
|
|
|
NM_001244008.2(KIF1A):c.3109A>G (p.Thr1037Ala)
|
|
|
|
NM_001244008.2(KIF1A):c.3112T>G (p.Ser1038Ala)
|
|
|
|
NM_001244008.2(KIF1A):c.3117G>A (p.Gln1039=)
|
|
|
|
NM_001244008.2(KIF1A):c.311C>T (p.Ser104Phe)
|
rs1553639010
|
|
|
NM_001244008.2(KIF1A):c.3127C>T (p.Arg1043Cys)
|
|
|
|
NM_001244008.2(KIF1A):c.3128G>A (p.Arg1043His)
|
|
|
|
NM_001244008.2(KIF1A):c.3132C>A (p.Ile1044=)
|
rs373045276
|
|
|
NM_001244008.2(KIF1A):c.3132C>T (p.Ile1044=)
|
rs373045276
|
|
|
NM_001244008.2(KIF1A):c.3133G>A (p.Val1045Met)
|
rs2125793618
|
|
|
NM_001244008.2(KIF1A):c.3138G>A (p.Glu1046=)
|
rs1553630555
|
|
|
NM_001244008.2(KIF1A):c.3140G>A (p.Gly1047Asp)
|
|
|
|
NM_001244008.2(KIF1A):c.3141CCAGGG[3] (p.1048QG[3])
|
rs2048566783
|
|
|
NM_001244008.2(KIF1A):c.3143A>G (p.Gln1048Arg)
|
rs2125793579
|
|
|
NM_001244008.2(KIF1A):c.3147C>T (p.Gly1049=)
|
|
|
|
NM_001244008.2(KIF1A):c.3152G>C (p.Gly1051Ala)
|
|
|
|
NM_001244008.2(KIF1A):c.3155C>T (p.Ala1052Val)
|
|
|
|
NM_001244008.2(KIF1A):c.3160G>C (p.Val1054Leu)
|
|
|
|
NM_001244008.2(KIF1A):c.3160G>T (p.Val1054Leu)
|
|
|
|
NM_001244008.2(KIF1A):c.3163G>C (p.Gly1055Arg)
|
|
|
|
NM_001244008.2(KIF1A):c.3166C>A (p.Pro1056Thr)
|
|
|
|
NM_001244008.2(KIF1A):c.3166C>G (p.Pro1056Ala)
|
|
|
|
NM_001244008.2(KIF1A):c.3174C>T (p.Ala1058=)
|
|
|
|
NM_001244008.2(KIF1A):c.3175G>A (p.Asp1059Asn)
|
|
|
|
NM_001244008.2(KIF1A):c.317C>A (p.Thr106Asn)
|
rs2055181124
|
|
|
NM_001244008.2(KIF1A):c.3181G>A (p.Val1061Ile)
|
|
|
|
NM_001244008.2(KIF1A):c.3183C>T (p.Val1061=)
|
|
|
|
NM_001244008.2(KIF1A):c.3185ACA[2] (p.Asn1064del)
|
|
|
|
NM_001244008.2(KIF1A):c.318C>T (p.Thr106=)
|
|
|
|
NM_001244008.2(KIF1A):c.3194C>T (p.Thr1065Ile)
|
|
|
|
NM_001244008.2(KIF1A):c.3197G>C (p.Cys1066Ser)
|
|
|
|
NM_001244008.2(KIF1A):c.3198T>C (p.Cys1066=)
|
|
|
|
NM_001244008.2(KIF1A):c.31C>T (p.Arg11Trp)
|
rs548204329
|
|
|
NM_001244008.2(KIF1A):c.3202+13C>T
|
|
|
|
NM_001244008.2(KIF1A):c.3202+15C>T
|
|
|
|
NM_001244008.2(KIF1A):c.3202+16C>A
|
|
|
|
NM_001244008.2(KIF1A):c.3202+4G>A
|
|
|
|
NM_001244008.2(KIF1A):c.3202+6T>C
|
|
|
|
NM_001244008.2(KIF1A):c.3202G>T (p.Ala1068Ser)
|
|
|
|
NM_001244008.2(KIF1A):c.3203-11A>T
|
|
|
|
NM_001244008.2(KIF1A):c.3203-14T>A
|
|
|
|
NM_001244008.2(KIF1A):c.3203-17T>A
|
rs375105783
|
|
|
NM_001244008.2(KIF1A):c.3203-1G>A
|
|
|
|
NM_001244008.2(KIF1A):c.3203-4G>C
|
|
|
|
NM_001244008.2(KIF1A):c.3203C>G (p.Ala1068Gly)
|
|
|
|
NM_001244008.2(KIF1A):c.3204A>C (p.Ala1068=)
|
rs2048540078
|
|
|
NM_001244008.2(KIF1A):c.3208C>T (p.Pro1070Ser)
|
|
|
|
NM_001244008.2(KIF1A):c.3210C>G (p.Pro1070=)
|
rs1027940908
|
|
|
NM_001244008.2(KIF1A):c.3210C>T (p.Pro1070=)
|
|
|
|
NM_001244008.2(KIF1A):c.3211C>G (p.Pro1071Ala)
|
|
|
|
NM_001244008.2(KIF1A):c.3213A>G (p.Pro1071=)
|
rs201232478
|
|
|
NM_001244008.2(KIF1A):c.3218G>A (p.Gly1073Asp)
|
rs755669671
|
|
|
NM_001244008.2(KIF1A):c.3219CCT[2] (p.Leu1076del)
|
rs1167417315
|
|
|
NM_001244008.2(KIF1A):c.3221T>C (p.Leu1074Pro)
|
rs750268852
|
|
|
NM_001244008.2(KIF1A):c.3222C>T (p.Leu1074=)
|
|
|
|
NM_001244008.2(KIF1A):c.3234C>T (p.Ser1078=)
|
|
|
|
NM_001244008.2(KIF1A):c.3237T>C (p.Ser1079=)
|
rs1378987029
|
|
|
NM_001244008.2(KIF1A):c.323T>A (p.Met108Lys)
|
|
|
|
NM_001244008.2(KIF1A):c.3246C>G (p.Ala1082=)
|
rs368682964
|
|
|
NM_001244008.2(KIF1A):c.3247_3248delinsCT (p.Ala1083Leu)
|
|
|
|
NM_001244008.2(KIF1A):c.325G>C (p.Gly109Arg)
|
|
|
|
NM_001244008.2(KIF1A):c.3261C>A (p.Pro1087=)
|
|
|
|
NM_001244008.2(KIF1A):c.3261C>T (p.Pro1087=)
|
rs867906794
|
|
|
NM_001244008.2(KIF1A):c.3268G>A (p.Ala1090Thr)
|
rs2125791623
|
|
|
NM_001244008.2(KIF1A):c.326G>A (p.Gly109Asp)
|
|
|
|
NM_001244008.2(KIF1A):c.3275T>C (p.Leu1092Pro)
|
|
|
|
NM_001244008.2(KIF1A):c.3289C>G (p.Leu1097Val)
|
|
|
|
NM_001244008.2(KIF1A):c.3293G>A (p.Gly1098Asp)
|
|
|
|
NM_001244008.2(KIF1A):c.3294C>T (p.Gly1098=)
|
|
|
|
NM_001244008.2(KIF1A):c.32G>A (p.Arg11Gln)
|
rs1575654528
|
|
|
NM_001244008.2(KIF1A):c.32G>T (p.Arg11Leu)
|
rs1575654528
|
|
|
NM_001244008.2(KIF1A):c.3300C>T (p.Thr1100=)
|
|
|
|
NM_001244008.2(KIF1A):c.3303C>T (p.Phe1101=)
|
rs2125791372
|
|
|
NM_001244008.2(KIF1A):c.3309C>T (p.Phe1103=)
|
|
|
|
NM_001244008.2(KIF1A):c.3310C>T (p.Arg1104Cys)
|
rs986710765
|
|
|
NM_001244008.2(KIF1A):c.3311G>A (p.Arg1104His)
|
|
|
|
NM_001244008.2(KIF1A):c.3320T>C (p.Val1107Ala)
|
rs2125791301
|
|
|
NM_001244008.2(KIF1A):c.3327G>A (p.Gln1109=)
|
rs752843807
|
|
|
NM_001244008.2(KIF1A):c.332A>G (p.Gln111Arg)
|
|
|
|
NM_001244008.2(KIF1A):c.3335G>T (p.Ser1112Ile)
|
|
|
|
NM_001244008.2(KIF1A):c.3339C>A (p.Ile1113=)
|
|
|
|
NM_001244008.2(KIF1A):c.3343G>A (p.Ala1115Thr)
|
|
|
|
NM_001244008.2(KIF1A):c.3344C>T (p.Ala1115Val)
|
|
|
|
NM_001244008.2(KIF1A):c.3345C>A (p.Ala1115=)
|
rs370286749
|
|
|
NM_001244008.2(KIF1A):c.3345C>T (p.Ala1115=)
|
rs370286749
|
|
|
NM_001244008.2(KIF1A):c.3347A>G (p.Glu1116Gly)
|
|
|
|
NM_001244008.2(KIF1A):c.334_336del (p.Glu112del)
|
rs2055179296
|
|
|
NM_001244008.2(KIF1A):c.3355G>A (p.Asp1119Asn)
|
rs2125791109
|
|
|
NM_001244008.2(KIF1A):c.3357C>G (p.Asp1119Glu)
|
rs2125791096
|
|
|
NM_001244008.2(KIF1A):c.3363C>T (p.Phe1121=)
|
|
|
|
NM_001244008.2(KIF1A):c.3369G>A (p.Gln1123=)
|
|
|
|
NM_001244008.2(KIF1A):c.3374+12C>T
|
|
|
|
NM_001244008.2(KIF1A):c.3374+14G>T
|
rs2125790916
|
|
|
NM_001244008.2(KIF1A):c.3374+15C>T
|
rs560192389
|
|
|
NM_001244008.2(KIF1A):c.3374+17T>A
|
|
|
|
NM_001244008.2(KIF1A):c.3374+2T>G
|
rs2125791006
|
|
|
NM_001244008.2(KIF1A):c.3374+3G>A
|
|
|
|
NM_001244008.2(KIF1A):c.3374+7C>A
|
|
|
|
NM_001244008.2(KIF1A):c.3375-19C>T
|
|
|
|
NM_001244008.2(KIF1A):c.3375-20G>A
|
|
|
|
NM_001244008.2(KIF1A):c.3375-20G>T
|
|
|
|
NM_001244008.2(KIF1A):c.3375-5del
|
rs2125789051
|
|
|
NM_001244008.2(KIF1A):c.3375-9G>A
|
|
|
|
NM_001244008.2(KIF1A):c.3379A>C (p.Ile1127Leu)
|
rs2125789013
|
|
|
NM_001244008.2(KIF1A):c.337A>G (p.Lys113Glu)
|
|
|
|
NM_001244008.2(KIF1A):c.3380T>C (p.Ile1127Thr)
|
rs1559495436
|
|
|
NM_001244008.2(KIF1A):c.3381C>T (p.Ile1127=)
|
|
|
|
NM_001244008.2(KIF1A):c.3391G>A (p.Asp1131Asn)
|
|
|
|
NM_001244008.2(KIF1A):c.3393C>A (p.Asp1131Glu)
|
rs776221706
|
|
|
NM_001244008.2(KIF1A):c.3393C>T (p.Asp1131=)
|
|
|
|
NM_001244008.2(KIF1A):c.3394G>A (p.Glu1132Lys)
|
|
|
|
NM_001244008.2(KIF1A):c.3397G>A (p.Ala1133Thr)
|
|
|
|
NM_001244008.2(KIF1A):c.3399C>G (p.Ala1133=)
|
rs2125788838
|
|
|
NM_001244008.2(KIF1A):c.3399C>T (p.Ala1133=)
|
rs2125788838
|
|
|
NM_001244008.2(KIF1A):c.3402C>G (p.Phe1134Leu)
|
|
|
|
NM_001244008.2(KIF1A):c.3412C>T (p.Pro1138Ser)
|
rs2048479919
|
|
|
NM_001244008.2(KIF1A):c.3415C>G (p.Leu1139Val)
|
|
|
|
NM_001244008.2(KIF1A):c.3443T>G (p.Leu1148Arg)
|
|
|
|
NM_001244008.2(KIF1A):c.3451T>C (p.Tyr1151His)
|
|
|
|
NM_001244008.2(KIF1A):c.3457G>A (p.Val1153Ile)
|
|
|
|
NM_001244008.2(KIF1A):c.3462G>A (p.Gln1154=)
|
|
|
|
NM_001244008.2(KIF1A):c.3463A>G (p.Asn1155Asp)
|
|
|
|
NM_001244008.2(KIF1A):c.3465+10T>A
|
rs2125788532
|
|
|
NM_001244008.2(KIF1A):c.3465+11G>A
|
|
|
|
NM_001244008.2(KIF1A):c.3465+17T>G
|
|
|
|
NM_001244008.2(KIF1A):c.3465+1G>A
|
|
|
|
NM_001244008.2(KIF1A):c.3466-11C>T
|
rs1559494216
|
|
|
NM_001244008.2(KIF1A):c.3466-13del
|
|
|
|
NM_001244008.2(KIF1A):c.3466-15C>T
|
|
|
|
NM_001244008.2(KIF1A):c.3466-17A>T
|
|
|
|
NM_001244008.2(KIF1A):c.3466-3C>T
|
|
|
|
NM_001244008.2(KIF1A):c.3466-4C>G
|
|
|
|
NM_001244008.2(KIF1A):c.3466-9G>A
|
rs1359954480
|
|
|
NM_001244008.2(KIF1A):c.3468C>A (p.Ile1156=)
|
|
|
|
NM_001244008.2(KIF1A):c.3469G>A (p.Ala1157Thr)
|
rs757444259
|
|
|
NM_001244008.2(KIF1A):c.3469G>T (p.Ala1157Ser)
|
|
|
|
NM_001244008.2(KIF1A):c.3494T>A (p.Ile1165Asn)
|
rs35698242
|
|
|
NM_001244008.2(KIF1A):c.349G>A (p.Gly117Ser)
|
rs2126091591
|
|
|
NM_001244008.2(KIF1A):c.34G>A (p.Val12Ile)
|
|
|
|
NM_001244008.2(KIF1A):c.3507G>A (p.Lys1169=)
|
|
|
|
NM_001244008.2(KIF1A):c.350G>A (p.Gly117Asp)
|
rs1200817308
|
|
|
NM_001244008.2(KIF1A):c.3515C>T (p.Pro1172Leu)
|
rs2048306205
|
|
|
NM_001244008.2(KIF1A):c.3519T>C (p.Ile1173=)
|
|
|
|
NM_001244008.2(KIF1A):c.3526G>A (p.Glu1176Lys)
|
|
|
|
NM_001244008.2(KIF1A):c.3529G>A (p.Val1177Ile)
|
|
|
|
NM_001244008.2(KIF1A):c.3530T>C (p.Val1177Ala)
|
|
|
|
NM_001244008.2(KIF1A):c.353T>A (p.Ile118Asn)
|
|
|
|
NM_001244008.2(KIF1A):c.3540C>A (p.His1180Gln)
|
|
|
|
NM_001244008.2(KIF1A):c.3543C>T (p.Tyr1181=)
|
|
|
|
NM_001244008.2(KIF1A):c.3546G>A (p.Gln1182=)
|
rs2048304848
|
|
|
NM_001244008.2(KIF1A):c.354C>T (p.Ile118=)
|
|
|
|
NM_001244008.2(KIF1A):c.3552C>T (p.His1184=)
|
rs2125777741
|
|
|
NM_001244008.2(KIF1A):c.3560C>T (p.Pro1187Leu)
|
|
|
|
NM_001244008.2(KIF1A):c.3561G>A (p.Pro1187=)
|
rs375702153
|
|
|
NM_001244008.2(KIF1A):c.3561G>T (p.Pro1187=)
|
rs375702153
|
|
|
NM_001244008.2(KIF1A):c.3562C>A (p.Pro1188Thr)
|
|
|
|
NM_001244008.2(KIF1A):c.3562C>T (p.Pro1188Ser)
|
rs1314580146
|
|
|
NM_001244008.2(KIF1A):c.3564C>T (p.Pro1188=)
|
|
|
|
NM_001244008.2(KIF1A):c.356T>A (p.Ile119Asn)
|
rs1482769652
|
|
|
NM_001244008.2(KIF1A):c.3570C>T (p.Cys1190=)
|
rs2125777593
|
|
|
NM_001244008.2(KIF1A):c.3577G>A (p.Val1193Met)
|
|
|
|
NM_001244008.2(KIF1A):c.3577G>C (p.Val1193Leu)
|
|
|
|
NM_001244008.2(KIF1A):c.3584+12G>A
|
|
|
|
NM_001244008.2(KIF1A):c.3584+13G>A
|
|
|
|
NM_001244008.2(KIF1A):c.3584+16C>A
|
rs773804422
|
|
|
NM_001244008.2(KIF1A):c.3584+17G>A
|
rs533159208
|
|
|
NM_001244008.2(KIF1A):c.3584+17G>T
|
|
|
|
NM_001244008.2(KIF1A):c.3584+18G>A
|
|
|
|
NM_001244008.2(KIF1A):c.3584+8C>A
|
|
|
|
NM_001244008.2(KIF1A):c.3584+9C>T
|
|
|
|
NM_001244008.2(KIF1A):c.3585-16G>T
|
|
|
|
NM_001244008.2(KIF1A):c.3585-4A>G
|
rs755269372
|
|
|
NM_001244008.2(KIF1A):c.3585-5C>T
|
rs779286188
|
|
|
NM_001244008.2(KIF1A):c.3585C>A (p.Ser1195Arg)
|
|
|
|
NM_001244008.2(KIF1A):c.3586C>G (p.Pro1196Ala)
|
|
|
|
NM_001244008.2(KIF1A):c.3587C>G (p.Pro1196Arg)
|
rs754421385
|
|
|
NM_001244008.2(KIF1A):c.3596C>G (p.Pro1199Arg)
|
|
|
|
NM_001244008.2(KIF1A):c.3605G>A (p.Arg1202His)
|
rs770764947
|
|
|
NM_001244008.2(KIF1A):c.3605G>T (p.Arg1202Leu)
|
rs770764947
|
|
|
NM_001244008.2(KIF1A):c.3609C>A (p.His1203Gln)
|
rs1195379895
|
|
|
NM_001244008.2(KIF1A):c.360A>G (p.Pro120=)
|
rs1208225744
|
|
|
NM_001244008.2(KIF1A):c.3616C>G (p.Arg1206Gly)
|
|
|
|
NM_001244008.2(KIF1A):c.3617G>T (p.Arg1206Leu)
|
rs369849214
|
|
|
NM_001244008.2(KIF1A):c.361C>T (p.Gln121Ter)
|
rs1318848388
|
|
|
NM_001244008.2(KIF1A):c.3624G>A (p.Met1208Ile)
|
rs2125769146
|
|
|
NM_001244008.2(KIF1A):c.3625C>T (p.Pro1209Ser)
|
|
|
|
NM_001244008.2(KIF1A):c.3626C>T (p.Pro1209Leu)
|
rs1559493171
|
|
|
NM_001244008.2(KIF1A):c.363+10G>A
|
|
|
|
NM_001244008.2(KIF1A):c.363+10G>C
|
|
|
|
NM_001244008.2(KIF1A):c.363+12G>A
|
rs1454996329
|
|
|
NM_001244008.2(KIF1A):c.363+13G>A
|
|
|
|
NM_001244008.2(KIF1A):c.363+14G>A
|
|
|
|
NM_001244008.2(KIF1A):c.363+15del
|
|
|
|
NM_001244008.2(KIF1A):c.363+16C>G
|
rs7594569
|
|
|
NM_001244008.2(KIF1A):c.363+18G>T
|
rs1188103117
|
|
|
NM_001244008.2(KIF1A):c.363+19G>T
|
rs2126091171
|
|
|
NM_001244008.2(KIF1A):c.363+19del
|
rs1426984408
|
|
|
NM_001244008.2(KIF1A):c.363+20C>A
|
|
|
|
NM_001244008.2(KIF1A):c.363+20C>G
|
rs199804274
|
|
|
NM_001244008.2(KIF1A):c.363+4C>G
|
|
|
|
NM_001244008.2(KIF1A):c.363+5G>A
|
|
|
|
NM_001244008.2(KIF1A):c.363+7A>C
|
rs1396977726
|
|
|
NM_001244008.2(KIF1A):c.363+7A>T
|
rs1396977726
|
|
|
NM_001244008.2(KIF1A):c.363+9C>G
|
rs368803931
|
|
|
NM_001244008.2(KIF1A):c.3639A>T (p.Pro1213=)
|
|
|
|
NM_001244008.2(KIF1A):c.364-11C>A
|
rs373047635
|
|
|
NM_001244008.2(KIF1A):c.364-11C>G
|
|
|
|
NM_001244008.2(KIF1A):c.364-11C>T
|
rs373047635
|
|
|
NM_001244008.2(KIF1A):c.364-11del
|
|
|
|
NM_001244008.2(KIF1A):c.364-11dup
|
|
|
|
NM_001244008.2(KIF1A):c.364-12C>G
|
|
|
|
NM_001244008.2(KIF1A):c.364-15C>T
|
rs761162677
|
|
|
NM_001244008.2(KIF1A):c.364-16C>A
|
|
|
|
NM_001244008.2(KIF1A):c.364-16C>G
|
rs888143243
|
|
|
NM_001244008.2(KIF1A):c.364-16C>T
|
rs888143243
|
|
|
NM_001244008.2(KIF1A):c.364-17T>G
|
|
|
|
NM_001244008.2(KIF1A):c.364-19T>C
|
|
|
|
NM_001244008.2(KIF1A):c.364-3C>A
|
rs2055065906
|
|
|
NM_001244008.2(KIF1A):c.3640+11T>A
|
|
|
|
NM_001244008.2(KIF1A):c.3640+4G>A
|
|
|
|
NM_001244008.2(KIF1A):c.3640+7A>G
|
|
|
|
NM_001244008.2(KIF1A):c.3641-10G>A
|
|
|
|
NM_001244008.2(KIF1A):c.3641-19C>T
|
|
|
|
NM_001244008.2(KIF1A):c.3646G>T (p.Ala1216Ser)
|
|
|
|
NM_001244008.2(KIF1A):c.3652A>G (p.Lys1218Glu)
|
rs2125754721
|
|
|
NM_001244008.2(KIF1A):c.365T>C (p.Leu122Pro)
|
|
|
|
NM_001244008.2(KIF1A):c.3661del (p.Thr1221fs)
|
|
|
|
NM_001244008.2(KIF1A):c.3663A>T (p.Thr1221=)
|
|
|
|
NM_001244008.2(KIF1A):c.3669G>A (p.Thr1223=)
|
rs371491091
|
|
|
NM_001244008.2(KIF1A):c.3669G>T (p.Thr1223=)
|
|
|
|
NM_001244008.2(KIF1A):c.3673C>T (p.Pro1225Ser)
|
|
|
|
NM_001244008.2(KIF1A):c.3675C>T (p.Pro1225=)
|
|
|
|
NM_001244008.2(KIF1A):c.3687C>G (p.Pro1229=)
|
rs2125754433
|
|
|
NM_001244008.2(KIF1A):c.3695G>T (p.Cys1232Phe)
|
|
|
|
NM_001244008.2(KIF1A):c.3697A>G (p.Lys1233Glu)
|
|
|
|
NM_001244008.2(KIF1A):c.3698A>G (p.Lys1233Arg)
|
rs1553629083
|
|
|
NM_001244008.2(KIF1A):c.3698A>T (p.Lys1233Met)
|
rs1553629083
|
|
|
NM_001244008.2(KIF1A):c.3700T>A (p.Tyr1234Asn)
|
rs2047939773
|
|
|
NM_001244008.2(KIF1A):c.3705C>A (p.Asp1235Glu)
|
rs1032134160
|
|
|
NM_001244008.2(KIF1A):c.3708G>A (p.Leu1236=)
|
|
|
|
NM_001244008.2(KIF1A):c.3709C>T (p.Leu1237=)
|
|
|
|
NM_001244008.2(KIF1A):c.370G>A (p.Glu124Lys)
|
rs1237269969
|
|
|
NM_001244008.2(KIF1A):c.3716A>G (p.Tyr1239Cys)
|
rs999800395
|
|
|
NM_001244008.2(KIF1A):c.3716A>T (p.Tyr1239Phe)
|
|
|
|
NM_001244008.2(KIF1A):c.3729T>G (p.Cys1243Trp)
|
|
|
|
NM_001244008.2(KIF1A):c.372G>A (p.Glu124=)
|
rs2055065140
|
|
|
NM_001244008.2(KIF1A):c.3732G>A (p.Glu1244=)
|
|
|
|
NM_001244008.2(KIF1A):c.3739G>A (p.Ala1247Thr)
|
|
|
|
NM_001244008.2(KIF1A):c.3745G>A (p.Gly1249Ser)
|
|
|
|
NM_001244008.2(KIF1A):c.3747C>A (p.Gly1249=)
|
rs1347922421
|
|
|
NM_001244008.2(KIF1A):c.3747C>G (p.Gly1249=)
|
rs1347922421
|
|
|
NM_001244008.2(KIF1A):c.3748G>A (p.Asp1250Asn)
|
rs747707345
|
|
|
NM_001244008.2(KIF1A):c.3749+11G>A
|
|
|
|
NM_001244008.2(KIF1A):c.3749+11G>T
|
rs1363823117
|
|
|
NM_001244008.2(KIF1A):c.3750-10T>G
|
|
|
|
NM_001244008.2(KIF1A):c.3750-13C>G
|
rs745684767
|
|
|
NM_001244008.2(KIF1A):c.3750-13C>T
|
|
|
|
NM_001244008.2(KIF1A):c.3750-17G>A
|
|
|
|
NM_001244008.2(KIF1A):c.3750-20C>T
|
|
|
|
NM_001244008.2(KIF1A):c.3750-2A>G
|
|
|
|
NM_001244008.2(KIF1A):c.3750-9C>G
|
|
|
|
NM_001244008.2(KIF1A):c.3756C>T (p.Ile1252=)
|
rs2125746153
|
|
|
NM_001244008.2(KIF1A):c.3759G>C (p.Pro1253=)
|
rs777751073
|
|
|
NM_001244008.2(KIF1A):c.375C>T (p.Asp125=)
|
rs375280241
|
|
|
NM_001244008.2(KIF1A):c.3765G>A (p.Val1255=)
|
|
|
|
NM_001244008.2(KIF1A):c.3768G>A (p.Val1256=)
|
|
|
|
NM_001244008.2(KIF1A):c.3771C>A (p.Asp1257Glu)
|
|
|
|
NM_001244008.2(KIF1A):c.3779G>A (p.Gly1260Glu)
|
rs2125745964
|
|
|
NM_001244008.2(KIF1A):c.3782G>A (p.Gly1261Asp)
|
|
|
|
NM_001244008.2(KIF1A):c.3783C>T (p.Gly1261=)
|
rs2047813399
|
|
|
NM_001244008.2(KIF1A):c.3784A>G (p.Met1262Val)
|
|
|
|
NM_001244008.2(KIF1A):c.3786G>A (p.Met1262Ile)
|
rs2125745911
|
|
|
NM_001244008.2(KIF1A):c.3793A>C (p.Met1265Leu)
|
|
|
|
NM_001244008.2(KIF1A):c.3793A>T (p.Met1265Leu)
|
|
|
|
NM_001244008.2(KIF1A):c.3794T>C (p.Met1265Thr)
|
|
|
|
NM_001244008.2(KIF1A):c.3795G>C (p.Met1265Ile)
|
|
|
|
NM_001244008.2(KIF1A):c.37C>T (p.Arg13Cys)
|
rs1064794935
|
|
|
NM_001244008.2(KIF1A):c.3805C>T (p.Leu1269Phe)
|
|
|
|
NM_001244008.2(KIF1A):c.3812A>C (p.His1271Pro)
|
rs1553628832
|
|
|
NM_001244008.2(KIF1A):c.3816+10C>T
|
|
|
|
NM_001244008.2(KIF1A):c.3816+10_3816+63del
|
|
|
|
NM_001244008.2(KIF1A):c.3816+15T>C
|
|
|
|
NM_001244008.2(KIF1A):c.3816+20C>G
|
rs376501987
|
|
|
NM_001244008.2(KIF1A):c.3816+3G>A
|
rs2047809605
|
|
|
NM_001244008.2(KIF1A):c.3816G>A (p.Gln1272=)
|
|
|
|
NM_001244008.2(KIF1A):c.3817-10G>A
|
rs962822799
|
|
|
NM_001244008.2(KIF1A):c.3817-12T>C
|
|
|
|
NM_001244008.2(KIF1A):c.3817-4G>A
|
|
|
|
NM_001244008.2(KIF1A):c.3817-5G>A
|
|
|
|
NM_001244008.2(KIF1A):c.3817-9C>T
|
rs2125743928
|
|
|
NM_001244008.2(KIF1A):c.3819C>T (p.Gly1273=)
|
|
|
|
NM_001244008.2(KIF1A):c.3825G>A (p.Gln1275=)
|
rs2125743828
|
|
|
NM_001244008.2(KIF1A):c.3827G>A (p.Arg1276Gln)
|
rs2047780556
|
|
|
NM_001244008.2(KIF1A):c.3830G>A (p.Arg1277Gln)
|
rs2047780090
|
|
|
NM_001244008.2(KIF1A):c.3838G>A (p.Val1280Met)
|
|
|
|
NM_001244008.2(KIF1A):c.3839T>G (p.Val1280Gly)
|
|
|
|
NM_001244008.2(KIF1A):c.3851A>C (p.His1284Pro)
|
|
|
|
NM_001244008.2(KIF1A):c.3853G>A (p.Glu1285Lys)
|
|
|
|
NM_001244008.2(KIF1A):c.3863G>C (p.Ser1288Thr)
|
|
|
|
NM_001244008.2(KIF1A):c.386G>A (p.Arg129Gln)
|
|
|
|
NM_001244008.2(KIF1A):c.3870C>A (p.Ile1290=)
|
rs2125743520
|
|
|
NM_001244008.2(KIF1A):c.3872G>T (p.Arg1291Leu)
|
rs201653410
|
|
|
NM_001244008.2(KIF1A):c.3886C>G (p.Arg1296Gly)
|
rs201684653
|
|
|
NM_001244008.2(KIF1A):c.3886C>T (p.Arg1296Cys)
|
rs201684653
|
|
|
NM_001244008.2(KIF1A):c.3888C>A (p.Arg1296=)
|
rs144520412
|
|
|
NM_001244008.2(KIF1A):c.3889G>A (p.Glu1297Lys)
|
|
|
|
NM_001244008.2(KIF1A):c.3894G>C (p.Leu1298=)
|
|
|
|
NM_001244008.2(KIF1A):c.38G>A (p.Arg13His)
|
rs797045050
|
|
|
NM_001244008.2(KIF1A):c.38G>T (p.Arg13Leu)
|
rs797045050
|
|
|
NM_001244008.2(KIF1A):c.3901+10G>C
|
|
|
|
NM_001244008.2(KIF1A):c.3901+14G>A
|
|
|
|
NM_001244008.2(KIF1A):c.3901+14G>C
|
rs1429288747
|
|
|
NM_001244008.2(KIF1A):c.3901+15G>A
|
|
|
|
NM_001244008.2(KIF1A):c.3901+16G>A
|
rs2125743058
|
|
|
NM_001244008.2(KIF1A):c.3901+18G>A
|
rs1196829108
|
|
|
NM_001244008.2(KIF1A):c.3901+20T>A
|
|
|
|
NM_001244008.2(KIF1A):c.3901+5G>A
|
|
|
|
NM_001244008.2(KIF1A):c.3901+8C>A
|
|
|
|
NM_001244008.2(KIF1A):c.3901+9G>C
|
rs141647310
|
|
|
NM_001244008.2(KIF1A):c.3901G>T (p.Gly1301Cys)
|
|
|
|
NM_001244008.2(KIF1A):c.3902-11C>T
|
|
|
|
NM_001244008.2(KIF1A):c.3902-17C>G
|
|
|
|
NM_001244008.2(KIF1A):c.3902-17C>T
|
|
|
|
NM_001244008.2(KIF1A):c.3902-19C>A
|
|
|
|
NM_001244008.2(KIF1A):c.3902-19C>T
|
|
|
|
NM_001244008.2(KIF1A):c.3902-20G>A
|
|
|
|
NM_001244008.2(KIF1A):c.3902-8T>C
|
|
|
|
NM_001244008.2(KIF1A):c.3903C>T (p.Gly1301=)
|
|
|
|
NM_001244008.2(KIF1A):c.3906C>T (p.Arg1302=)
|
|
|
|
NM_001244008.2(KIF1A):c.3913A>C (p.Asn1305His)
|
|
|
|
NM_001244008.2(KIF1A):c.3914A>G (p.Asn1305Ser)
|
rs2047425280
|
|
|
NM_001244008.2(KIF1A):c.3915C>T (p.Asn1305=)
|
|
|
|
NM_001244008.2(KIF1A):c.3917C>T (p.Thr1306Ile)
|
rs1382579533
|
|
|
NM_001244008.2(KIF1A):c.3919C>T (p.Pro1307Ser)
|
|
|
|
NM_001244008.2(KIF1A):c.3924G>C (p.Glu1308Asp)
|
rs2125719123
|
|
|
NM_001244008.2(KIF1A):c.3927C>G (p.Thr1309=)
|
|
|
|
NM_001244008.2(KIF1A):c.3929A>T (p.Asp1310Val)
|
|
|
|
NM_001244008.2(KIF1A):c.3931G>A (p.Glu1311Lys)
|
rs778239281
|
|
|
NM_001244008.2(KIF1A):c.3937C>T (p.Leu1313=)
|
rs2125718993
|
|
|
NM_001244008.2(KIF1A):c.3939G>A (p.Leu1313=)
|
|
|
|
NM_001244008.2(KIF1A):c.3940A>G (p.Ile1314Val)
|
|
|
|
NM_001244008.2(KIF1A):c.3942C>A (p.Ile1314=)
|
rs201423643
|
|
|
NM_001244008.2(KIF1A):c.394G>A (p.Asp132Asn)
|
|
|
|
NM_001244008.2(KIF1A):c.3954C>A (p.Ile1318=)
|
|
|
|
NM_001244008.2(KIF1A):c.3954C>T (p.Ile1318=)
|
|
|
|
NM_001244008.2(KIF1A):c.3955T>C (p.Leu1319=)
|
|
|
|
NM_001244008.2(KIF1A):c.3957G>A (p.Leu1319=)
|
rs543211826
|
|
|
NM_001244008.2(KIF1A):c.395A>C (p.Asp132Ala)
|
|
|
|
NM_001244008.2(KIF1A):c.3968T>C (p.Ile1323Thr)
|
|
|
|
NM_001244008.2(KIF1A):c.3969C>T (p.Ile1323=)
|
|
|
|
NM_001244008.2(KIF1A):c.3974C>T (p.Ser1325Phe)
|
|
|
|
NM_001244008.2(KIF1A):c.3977C>T (p.Ser1326Phe)
|
rs2125718681
|
|
|
NM_001244008.2(KIF1A):c.3984C>T (p.Tyr1328=)
|
|
|
|
NM_001244008.2(KIF1A):c.3990C>A (p.His1330Gln)
|
|
|
|
NM_001244008.2(KIF1A):c.3992C>T (p.Pro1331Leu)
|
rs759671623
|
|
|
NM_001244008.2(KIF1A):c.3994G>T (p.Ala1332Ser)
|
|
|
|
NM_001244008.2(KIF1A):c.4006C>A (p.Arg1336=)
|
rs367883171
|
|
|
NM_001244008.2(KIF1A):c.4007+11G>C
|
|
|
|
NM_001244008.2(KIF1A):c.4007+11G>T
|
|
|
|
NM_001244008.2(KIF1A):c.4007+12A>T
|
rs745416101
|
|
|
NM_001244008.2(KIF1A):c.4007+17del
|
rs778729761
|
|
|
NM_001244008.2(KIF1A):c.4007+18T>A
|
|
|
|
NM_001244008.2(KIF1A):c.4007+20G>A
|
|
|
|
NM_001244008.2(KIF1A):c.4007+7C>G
|
|
|
|
NM_001244008.2(KIF1A):c.4007+9G>T
|
|
|
|
NM_001244008.2(KIF1A):c.4008-13T>C
|
|
|
|
NM_001244008.2(KIF1A):c.4008-14C>G
|
|
|
|
NM_001244008.2(KIF1A):c.4008-15T>C
|
|
|
|
NM_001244008.2(KIF1A):c.4008-16C>T
|
|
|
|
NM_001244008.2(KIF1A):c.4008-3C>A
|
|
|
|
NM_001244008.2(KIF1A):c.400A>G (p.Thr134Ala)
|
|
|
|
NM_001244008.2(KIF1A):c.4012T>G (p.Phe1338Val)
|
|
|
|
NM_001244008.2(KIF1A):c.4017C>T (p.Tyr1339=)
|
|
|
|
NM_001244008.2(KIF1A):c.4021T>C (p.Phe1341Leu)
|
rs1559480429
|
|
|
NM_001244008.2(KIF1A):c.4022T>C (p.Phe1341Ser)
|
rs1553626083
|
|
|
NM_001244008.2(KIF1A):c.4025A>G (p.Glu1342Gly)
|
rs1465561800
|
|
|
NM_001244008.2(KIF1A):c.4028C>T (p.Ala1343Val)
|
rs2046074242
|
|
|
NM_001244008.2(KIF1A):c.402C>T (p.Thr134=)
|
rs2126086717
|
|
|
NM_001244008.2(KIF1A):c.4045A>G (p.Met1349Val)
|
rs777103421
|
|
|
NM_001244008.2(KIF1A):c.4055C>G (p.Ser1352Cys)
|
rs1559480382
|
|
|
NM_001244008.2(KIF1A):c.4057C>T (p.Leu1353Phe)
|
rs865912479
|
|
|
NM_001244008.2(KIF1A):c.4069C>T (p.Arg1357Trp)
|
rs886042271
|
|
|
NM_001244008.2(KIF1A):c.406_408dup (p.Asp136_Asn137insAsp)
|
|
|
|
NM_001244008.2(KIF1A):c.4070G>A (p.Arg1357Gln)
|
|
|
|
NM_001244008.2(KIF1A):c.4076C>A (p.Thr1359Asn)
|
|
|
|
NM_001244008.2(KIF1A):c.4085G>C (p.Arg1362Pro)
|
rs753620726
|
|
|
NM_001244008.2(KIF1A):c.4085G>T (p.Arg1362Leu)
|
|
|
|
NM_001244008.2(KIF1A):c.4086A>G (p.Arg1362=)
|
|
|
|
NM_001244008.2(KIF1A):c.4089G>T (p.Glu1363Asp)
|
rs2046068443
|
|
|
NM_001244008.2(KIF1A):c.408C>T (p.Asp136=)
|
|
|
|
NM_001244008.2(KIF1A):c.4092A>T (p.Lys1364Asn)
|
|
|
|
NM_001244008.2(KIF1A):c.4097A>T (p.Tyr1366Phe)
|
rs2046067517
|
|
|
NM_001244008.2(KIF1A):c.409A>T (p.Asn137Tyr)
|
|
|
|
NM_001244008.2(KIF1A):c.40C>G (p.Pro14Ala)
|
|
|
|
NM_001244008.2(KIF1A):c.4110C>A (p.Ser1370=)
|
rs374134509
|
|
|
NM_001244008.2(KIF1A):c.4110C>G (p.Ser1370=)
|
|
|
|
NM_001244008.2(KIF1A):c.4111G>A (p.Ala1371Thr)
|
rs751798253
|
|
|
NM_001244008.2(KIF1A):c.4111G>T (p.Ala1371Ser)
|
rs751798253
|
|
|
NM_001244008.2(KIF1A):c.4116T>C (p.Tyr1372=)
|
rs2125632706
|
|
|
NM_001244008.2(KIF1A):c.4120G>C (p.Glu1374Gln)
|
rs951775920
|
|
|
NM_001244008.2(KIF1A):c.4122+10C>T
|
|
|
|
NM_001244008.2(KIF1A):c.4122+12A>G
|
|
|
|
NM_001244008.2(KIF1A):c.4122+16C>G
|
|
|
|
NM_001244008.2(KIF1A):c.4122+7C>G
|
|
|
|
NM_001244008.2(KIF1A):c.4122+9C>A
|
rs2125632639
|
|
|
NM_001244008.2(KIF1A):c.4122+9C>T
|
|
|
|
NM_001244008.2(KIF1A):c.4123-11G>C
|
rs369835159
|
|
|
NM_001244008.2(KIF1A):c.4123-18T>G
|
rs2125622525
|
|
|
NM_001244008.2(KIF1A):c.4123-5C>T
|
|
|
|
NM_001244008.2(KIF1A):c.4123-9C>G
|
|
|
|
NM_001244008.2(KIF1A):c.4123A>T (p.Met1375Leu)
|
rs2045896288
|
|
|
NM_001244008.2(KIF1A):c.4125G>T (p.Met1375Ile)
|
|
|
|
NM_001244008.2(KIF1A):c.4126G>A (p.Glu1376Lys)
|
rs1007488193
|
|
|
NM_001244008.2(KIF1A):c.4127A>G (p.Glu1376Gly)
|
|
|
|
NM_001244008.2(KIF1A):c.4130A>G (p.Asn1377Ser)
|
|
|
|
NM_001244008.2(KIF1A):c.4131C>G (p.Asn1377Lys)
|
rs562072254
|
|
|
NM_001244008.2(KIF1A):c.4132T>G (p.Cys1378Gly)
|
|
|
|
NM_001244008.2(KIF1A):c.4135A>C (p.Thr1379Pro)
|
|
|
|
NM_001244008.2(KIF1A):c.4136C>T (p.Thr1379Ile)
|
|
|
|
NM_001244008.2(KIF1A):c.4139A>C (p.Gln1380Pro)
|
|
|
|
NM_001244008.2(KIF1A):c.4141C>A (p.Pro1381Thr)
|
|
|
|
NM_001244008.2(KIF1A):c.4145C>A (p.Ala1382Asp)
|
|
|
|
NM_001244008.2(KIF1A):c.4145C>T (p.Ala1382Val)
|
|
|
|
NM_001244008.2(KIF1A):c.414G>A (p.Met138Ile)
|
|
|
|
NM_001244008.2(KIF1A):c.4152C>T (p.Val1384=)
|
rs368084839
|
|
|
NM_001244008.2(KIF1A):c.4160A>G (p.Asp1387Gly)
|
rs1575525452
|
|
|
NM_001244008.2(KIF1A):c.4171G>A (p.Val1391Ile)
|
rs373900978
|
|
|
NM_001244008.2(KIF1A):c.4173C>T (p.Val1391=)
|
|
|
|
NM_001244008.2(KIF1A):c.417C>T (p.Ser139=)
|
rs763629643
|
|
|
NM_001244008.2(KIF1A):c.4180T>C (p.Ser1394Pro)
|
|
|
|
NM_001244008.2(KIF1A):c.4183C>T (p.Arg1395Cys)
|
|
|
|
NM_001244008.2(KIF1A):c.4184G>A (p.Arg1395His)
|
|
|
|
NM_001244008.2(KIF1A):c.4190C>T (p.Ala1397Val)
|
|
|
|
NM_001244008.2(KIF1A):c.4191C>G (p.Ala1397=)
|
|
|
|
NM_001244008.2(KIF1A):c.41C>T (p.Pro14Leu)
|
rs879253976
|
|
|
NM_001244008.2(KIF1A):c.4202C>T (p.Ala1401Val)
|
rs1366608570
|
|
|
NM_001244008.2(KIF1A):c.4203C>T (p.Ala1401=)
|
|
|
|
NM_001244008.2(KIF1A):c.4207C>T (p.Arg1403Cys)
|
|
|
|
NM_001244008.2(KIF1A):c.4208G>A (p.Arg1403His)
|
rs537708830
|
|
|
NM_001244008.2(KIF1A):c.4208G>T (p.Arg1403Leu)
|
|
|
|
NM_001244008.2(KIF1A):c.4209C>T (p.Arg1403=)
|
|
|
|
NM_001244008.2(KIF1A):c.4216C>T (p.Arg1406Cys)
|
|
|
|
NM_001244008.2(KIF1A):c.4220A>C (p.Asn1407Thr)
|
|
|
|
NM_001244008.2(KIF1A):c.4221C>T (p.Asn1407=)
|
rs1264138765
|
|
|
NM_001244008.2(KIF1A):c.4222C>G (p.Leu1408Val)
|
|
|
|
NM_001244008.2(KIF1A):c.4224C>T (p.Leu1408=)
|
|
|
|
NM_001244008.2(KIF1A):c.4229G>T (p.Gly1410Val)
|
rs754172009
|
|
|
NM_001244008.2(KIF1A):c.4233T>C (p.Ser1411=)
|
rs1575525327
|
|
|
NM_001244008.2(KIF1A):c.4236G>T (p.Gly1412=)
|
rs1398284516
|
|
|
NM_001244008.2(KIF1A):c.4243C>T (p.Arg1415Trp)
|
rs1559479236
|
|
|
NM_001244008.2(KIF1A):c.4248C>T (p.Ala1416=)
|
|
|
|
NM_001244008.2(KIF1A):c.4255A>T (p.Ser1419Cys)
|
|
|
|
NM_001244008.2(KIF1A):c.4256+14G>A
|
rs1422904058
|
|
|
NM_001244008.2(KIF1A):c.4256+15G>T
|
|
|
|
NM_001244008.2(KIF1A):c.4256+18A>T
|
|
|
|
NM_001244008.2(KIF1A):c.4257-10C>T
|
|
|
|
NM_001244008.2(KIF1A):c.4257-11A>G
|
|
|
|
NM_001244008.2(KIF1A):c.4257-14_4257-12del
|
rs778412941
|
|
|
NM_001244008.2(KIF1A):c.4257-19C>T
|
|
|
|
NM_001244008.2(KIF1A):c.4257-6C>T
|
rs1440735433
|
|
|
NM_001244008.2(KIF1A):c.4258A>G (p.Asn1420Asp)
|
rs752208944
|
|
|
NM_001244008.2(KIF1A):c.4261C>A (p.Arg1421Ser)
|
|
|
|
NM_001244008.2(KIF1A):c.4261C>T (p.Arg1421Cys)
|
|
|
|
NM_001244008.2(KIF1A):c.4262G>A (p.Arg1421His)
|
|
|
|
NM_001244008.2(KIF1A):c.4273G>A (p.Val1425Met)
|
rs2125608798
|
|
|
NM_001244008.2(KIF1A):c.4278C>G (p.Tyr1426Ter)
|
rs572662012
|
|
|
NM_001244008.2(KIF1A):c.4280A>C (p.Glu1427Ala)
|
rs2045704169
|
|
|
NM_001244008.2(KIF1A):c.4282C>A (p.Leu1428Ile)
|
|
|
|
NM_001244008.2(KIF1A):c.429+10C>T
|
|
|
|
NM_001244008.2(KIF1A):c.429+15C>T
|
|
|
|
NM_001244008.2(KIF1A):c.429+16T>A
|
|
|
|
NM_001244008.2(KIF1A):c.429+19C>T
|
|
|
|
NM_001244008.2(KIF1A):c.429+7C>T
|
|
|
|
NM_001244008.2(KIF1A):c.4294C>T (p.His1432Tyr)
|
|
|
|
NM_001244008.2(KIF1A):c.4295A>G (p.His1432Arg)
|
|
|
|
NM_001244008.2(KIF1A):c.4296C>A (p.His1432Gln)
|
|
|
|
NM_001244008.2(KIF1A):c.4296C>T (p.His1432=)
|
|
|
|
NM_001244008.2(KIF1A):c.430-18C>T
|
|
|
|
NM_001244008.2(KIF1A):c.430-20G>T
|
|
|
|
NM_001244008.2(KIF1A):c.430-2A>G
|
|
|
|
NM_001244008.2(KIF1A):c.430-3C>A
|
|
|
|
NM_001244008.2(KIF1A):c.430-4G>T
|
|
|
|
NM_001244008.2(KIF1A):c.430-6C>T
|
rs779060298
|
|
|
NM_001244008.2(KIF1A):c.430-7C>A
|
|
|
|
NM_001244008.2(KIF1A):c.430-8C>T
|
rs1180572370
|
|
|
NM_001244008.2(KIF1A):c.430-9G>T
|
|
|
|
NM_001244008.2(KIF1A):c.4305C>T (p.Asp1435=)
|
rs962460784
|
|
|
NM_001244008.2(KIF1A):c.4311C>A (p.Gly1437=)
|
rs2125608548
|
|
|
NM_001244008.2(KIF1A):c.4317A>C (p.Pro1439=)
|
rs2045700790
|
|
|
NM_001244008.2(KIF1A):c.4317A>G (p.Pro1439=)
|
|
|
|
NM_001244008.2(KIF1A):c.4318+13C>T
|
|
|
|
NM_001244008.2(KIF1A):c.4318+15T>C
|
|
|
|
NM_001244008.2(KIF1A):c.4318+3A>G
|
|
|
|
NM_001244008.2(KIF1A):c.4319-11G>C
|
|
|
|
NM_001244008.2(KIF1A):c.4319-16C>T
|
|
|
|
NM_001244008.2(KIF1A):c.4319-1G>A
|
|
|
|
NM_001244008.2(KIF1A):c.4319-2A>G
|
rs1559477798
|
|
|
NM_001244008.2(KIF1A):c.4319-5T>C
|
|
|
|
NM_001244008.2(KIF1A):c.4320G>T (p.Gly1440=)
|
|
|
|
NM_001244008.2(KIF1A):c.4324C>T (p.Gln1442Ter)
|
|
|
|
NM_001244008.2(KIF1A):c.4326G>A (p.Gln1442=)
|
|
|
|
NM_001244008.2(KIF1A):c.4326G>C (p.Gln1442His)
|
|
|
|
NM_001244008.2(KIF1A):c.4327C>T (p.Arg1443Cys)
|
|
|
|
NM_001244008.2(KIF1A):c.4328G>A (p.Arg1443His)
|
|
|
|
NM_001244008.2(KIF1A):c.4329C>A (p.Arg1443=)
|
|
|
|
NM_001244008.2(KIF1A):c.4330C>T (p.Arg1444Trp)
|
|
|
|
NM_001244008.2(KIF1A):c.4332G>T (p.Arg1444=)
|
rs776552179
|
|
|
NM_001244008.2(KIF1A):c.4337G>A (p.Arg1446Gln)
|
|
|
|
NM_001244008.2(KIF1A):c.4337G>T (p.Arg1446Leu)
|
rs1337924125
|
|
|
NM_001244008.2(KIF1A):c.4339C>G (p.Arg1447Gly)
|
|
|
|
NM_001244008.2(KIF1A):c.4339C>T (p.Arg1447Ter)
|
rs1057519240
|
|
|
NM_001244008.2(KIF1A):c.4340G>A (p.Arg1447Gln)
|
rs1294960500
|
|
|
NM_001244008.2(KIF1A):c.4349A>T (p.Asp1450Val)
|
|
|
|
NM_001244008.2(KIF1A):c.4353A>G (p.Thr1451=)
|
|
|
|
NM_001244008.2(KIF1A):c.4358T>C (p.Val1453Ala)
|
rs1575521876
|
|
|
NM_001244008.2(KIF1A):c.4360G>A (p.Ala1454Thr)
|
|
|
|
NM_001244008.2(KIF1A):c.4361C>T (p.Ala1454Val)
|
rs1323387485
|
|
|
NM_001244008.2(KIF1A):c.4368C>T (p.Val1456=)
|
|
|
|
NM_001244008.2(KIF1A):c.4369C>T (p.Arg1457Trp)
|
rs2125604949
|
|
|
NM_001244008.2(KIF1A):c.4375G>A (p.Glu1459Lys)
|
rs2045644019
|
|
|
NM_001244008.2(KIF1A):c.4384C>T (p.Leu1462=)
|
rs903968622
|
|
|
NM_001244008.2(KIF1A):c.4387G>A (p.Ala1463Thr)
|
|
|
|
NM_001244008.2(KIF1A):c.4392C>T (p.Gly1464=)
|
|
|
|
NM_001244008.2(KIF1A):c.439A>G (p.Met147Val)
|
rs2054764091
|
|
|
NM_001244008.2(KIF1A):c.4400C>T (p.Pro1467Leu)
|
rs2125604812
|
|
|
NM_001244008.2(KIF1A):c.4403G>A (p.Arg1468Gln)
|
|
|
|
NM_001244008.2(KIF1A):c.4410C>T (p.Asp1470=)
|
|
|
|
NM_001244008.2(KIF1A):c.4431G>T (p.Gln1477His)
|
rs2045640006
|
|
|
NM_001244008.2(KIF1A):c.4435G>A (p.Glu1479Lys)
|
rs2045639682
|
|
|
NM_001244008.2(KIF1A):c.4447C>T (p.Leu1483=)
|
|
|
|
NM_001244008.2(KIF1A):c.444G>A (p.Glu148=)
|
rs2054763570
|
|
|
NM_001244008.2(KIF1A):c.4452C>T (p.Ser1484=)
|
|
|
|
NM_001244008.2(KIF1A):c.4455C>T (p.Leu1485=)
|
|
|
|
NM_001244008.2(KIF1A):c.4460A>C (p.Gln1487Pro)
|
rs2125604530
|
|
|
NM_001244008.2(KIF1A):c.4464+17G>C
|
|
|
|
NM_001244008.2(KIF1A):c.4464+5G>A
|
|
|
|
NM_001244008.2(KIF1A):c.4464G>A (p.Glu1488=)
|
|
|
|
NM_001244008.2(KIF1A):c.4465-14T>C
|
rs1160874188
|
|
|
NM_001244008.2(KIF1A):c.4465-18C>T
|
|
|
|
NM_001244008.2(KIF1A):c.4465-4G>A
|
rs2045545035
|
|
|
NM_001244008.2(KIF1A):c.4465-8G>A
|
rs1232485129
|
|
|
NM_001244008.2(KIF1A):c.4465G>C (p.Val1489Leu)
|
|
|
|
NM_001244008.2(KIF1A):c.4465G>T (p.Val1489Leu)
|
|
|
|
NM_001244008.2(KIF1A):c.4485C>T (p.Tyr1495=)
|
|
|
|
NM_001244008.2(KIF1A):c.4487T>G (p.Leu1496Arg)
|
|
|
|
NM_001244008.2(KIF1A):c.4488G>A (p.Leu1496=)
|
rs371980548
|
|
|
NM_001244008.2(KIF1A):c.4495C>A (p.Arg1499=)
|
|
|
|
NM_001244008.2(KIF1A):c.4495C>T (p.Arg1499Trp)
|
|
|
|
NM_001244008.2(KIF1A):c.4509G>A (p.Glu1503=)
|
rs1229202517
|
|
|
NM_001244008.2(KIF1A):c.4519C>A (p.Arg1507=)
|
rs755721997
|
|
|
NM_001244008.2(KIF1A):c.4521G>C (p.Arg1507=)
|
rs1181895449
|
|
|
NM_001244008.2(KIF1A):c.4524T>G (p.Pro1508=)
|
rs2125598362
|
|
|
NM_001244008.2(KIF1A):c.4527C>A (p.Val1509=)
|
rs2125598348
|
|
|
NM_001244008.2(KIF1A):c.4529C>G (p.Pro1510Arg)
|
|
|
|
NM_001244008.2(KIF1A):c.4529del (p.Pro1510fs)
|
rs2125598333
|
|
|
NM_001244008.2(KIF1A):c.452G>A (p.Cys151Tyr)
|
rs1553638655
|
|
|
NM_001244008.2(KIF1A):c.4535C>T (p.Ala1512Val)
|
|
|
|
NM_001244008.2(KIF1A):c.4536A>C (p.Ala1512=)
|
rs956495221
|
|
|
NM_001244008.2(KIF1A):c.4538T>C (p.Leu1513Pro)
|
rs2125598231
|
|
|
NM_001244008.2(KIF1A):c.4539G>C (p.Leu1513=)
|
|
|
|
NM_001244008.2(KIF1A):c.4545G>A (p.Pro1515=)
|
rs540399320
|
|
|
NM_001244008.2(KIF1A):c.4545G>T (p.Pro1515=)
|
rs540399320
|
|
|
NM_001244008.2(KIF1A):c.4554C>G (p.Ser1518Arg)
|
rs775395101
|
|
|
NM_001244008.2(KIF1A):c.4557G>C (p.Glu1519Asp)
|
|
|
|
NM_001244008.2(KIF1A):c.4558G>C (p.Asp1520His)
|
rs2125598098
|
|
|
NM_001244008.2(KIF1A):c.4560C>T (p.Asp1520=)
|
|
|
|
NM_001244008.2(KIF1A):c.4566G>A (p.Glu1522=)
|
rs2125598043
|
|
|
NM_001244008.2(KIF1A):c.4575C>T (p.Gly1525=)
|
rs1553625168
|
|
|
NM_001244008.2(KIF1A):c.4578C>T (p.Ser1526=)
|
|
|
|
NM_001244008.2(KIF1A):c.457C>T (p.Arg153Cys)
|
|
|
|
NM_001244008.2(KIF1A):c.4583G>A (p.Ser1528Asn)
|
rs2125597894
|
|
|
NM_001244008.2(KIF1A):c.4584C>A (p.Ser1528Arg)
|
|
|
|
NM_001244008.2(KIF1A):c.4585G>A (p.Ala1529Thr)
|
rs572923181
|
|
|
NM_001244008.2(KIF1A):c.4585G>T (p.Ala1529Ser)
|
rs572923181
|
|
|
NM_001244008.2(KIF1A):c.4586C>T (p.Ala1529Val)
|
|
|
|
NM_001244008.2(KIF1A):c.458G>A (p.Arg153His)
|
|
|
|
NM_001244008.2(KIF1A):c.4591T>C (p.Ser1531Pro)
|
|
|
|
NM_001244008.2(KIF1A):c.4595C>A (p.Pro1532Gln)
|
|
|
|
NM_001244008.2(KIF1A):c.4596G>T (p.Pro1532=)
|
|
|
|
NM_001244008.2(KIF1A):c.4598T>A (p.Leu1533His)
|
|
|
|
NM_001244008.2(KIF1A):c.4602G>A (p.Ser1534=)
|
|
|
|
NM_001244008.2(KIF1A):c.4602G>C (p.Ser1534=)
|
|
|
|
NM_001244008.2(KIF1A):c.4602G>T (p.Ser1534=)
|
rs757090320
|
|
|
NM_001244008.2(KIF1A):c.4605T>C (p.Ala1535=)
|
|
|
|
NM_001244008.2(KIF1A):c.4606G>A (p.Glu1536Lys)
|
|
|
|
NM_001244008.2(KIF1A):c.4607A>C (p.Glu1536Ala)
|
|
|
|
NM_001244008.2(KIF1A):c.4608G>A (p.Glu1536=)
|
|
|
|
NM_001244008.2(KIF1A):c.4617A>G (p.Pro1539=)
|
rs984178501
|
|
|
NM_001244008.2(KIF1A):c.4621C>T (p.Pro1541Ser)
|
rs1457334989
|
|
|
NM_001244008.2(KIF1A):c.4622C>T (p.Pro1541Leu)
|
|
|
|
NM_001244008.2(KIF1A):c.4624del (p.Leu1542fs)
|
rs2125597503
|
|
|
NM_001244008.2(KIF1A):c.4625T>C (p.Leu1542Pro)
|
rs1559476658
|
|
|
NM_001244008.2(KIF1A):c.4631C>T (p.Ala1544Val)
|
|
|
|
NM_001244008.2(KIF1A):c.4634C>G (p.Pro1545Arg)
|
|
|
|
NM_001244008.2(KIF1A):c.4636_4638del (p.Asn1546del)
|
|
|
|
NM_001244008.2(KIF1A):c.4639G>A (p.Glu1547Lys)
|
rs537893174
|
|
|
NM_001244008.2(KIF1A):c.4639G>C (p.Glu1547Gln)
|
rs537893174
|
|
|
NM_001244008.2(KIF1A):c.463C>T (p.Arg155Cys)
|
|
|
|
NM_001244008.2(KIF1A):c.4645_4660del (p.Gln1549fs)
|
|
|
|
NM_001244008.2(KIF1A):c.4647G>A (p.Gln1549=)
|
|
|
|
NM_001244008.2(KIF1A):c.4648C>A (p.Arg1550=)
|
|
|
|
NM_001244008.2(KIF1A):c.4649G>T (p.Arg1550Leu)
|
|
|
|
NM_001244008.2(KIF1A):c.464G>A (p.Arg155His)
|
|
|
|
NM_001244008.2(KIF1A):c.4662C>T (p.Val1554=)
|
|
|
|
NM_001244008.2(KIF1A):c.4665+11C>T
|
|
|
|
NM_001244008.2(KIF1A):c.4665+14G>A
|
|
|
|
NM_001244008.2(KIF1A):c.4665+14G>C
|
|
|
|
NM_001244008.2(KIF1A):c.4665+18G>T
|
rs2125597023
|
|
|
NM_001244008.2(KIF1A):c.4665+3G>A
|
|
|
|
NM_001244008.2(KIF1A):c.4666-12C>G
|
rs546579636
|
|
|
NM_001244008.2(KIF1A):c.4666-17G>T
|
|
|
|
NM_001244008.2(KIF1A):c.4666-6C>A
|
rs2045435167
|
|
|
NM_001244008.2(KIF1A):c.4672C>T (p.Arg1558Cys)
|
|
|
|
NM_001244008.2(KIF1A):c.467A>T (p.Asp156Val)
|
rs2126071766
|
|
|
NM_001244008.2(KIF1A):c.4680C>A (p.Leu1560=)
|
rs1257056232
|
|
|
NM_001244008.2(KIF1A):c.4681A>G (p.Thr1561Ala)
|
rs2125592491
|
|
|
NM_001244008.2(KIF1A):c.4683G>C (p.Thr1561=)
|
rs370908366
|
|
|
NM_001244008.2(KIF1A):c.4694A>G (p.Asn1565Ser)
|
rs755380517
|
|
|
NM_001244008.2(KIF1A):c.4697G>A (p.Arg1566Lys)
|
|
|
|
NM_001244008.2(KIF1A):c.469C>G (p.Leu157Val)
|
|
|
|
NM_001244008.2(KIF1A):c.4700_4701del (p.Glu1567fs)
|
|
|
|
NM_001244008.2(KIF1A):c.470T>C (p.Leu157Pro)
|
rs1575631836
|
|
|
NM_001244008.2(KIF1A):c.4712G>A (p.Ser1571Asn)
|
|
|
|
NM_001244008.2(KIF1A):c.4713C>A (p.Ser1571Arg)
|
rs2045430456
|
|
|
NM_001244008.2(KIF1A):c.4713C>T (p.Ser1571=)
|
rs2045430456
|
|
|
NM_001244008.2(KIF1A):c.4714C>T (p.His1572Tyr)
|
|
|
|
NM_001244008.2(KIF1A):c.4716C>G (p.His1572Gln)
|
rs375640417
|
|
|
NM_001244008.2(KIF1A):c.4726A>C (p.Ser1576Arg)
|
rs2045429070
|
|
|
NM_001244008.2(KIF1A):c.4727G>A (p.Ser1576Asn)
|
rs754928504
|
|
|
NM_001244008.2(KIF1A):c.4729G>T (p.Ala1577Ser)
|
|
|
|
NM_001244008.2(KIF1A):c.4739G>A (p.Ser1580Asn)
|
rs2045427297
|
|
|
NM_001244008.2(KIF1A):c.4742A>G (p.Lys1581Arg)
|
|
|
|
NM_001244008.2(KIF1A):c.4743+12G>A
|
|
|
|
NM_001244008.2(KIF1A):c.4743+16C>A
|
|
|
|
NM_001244008.2(KIF1A):c.4743+18G>A
|
rs1292108788
|
|
|
NM_001244008.2(KIF1A):c.4743+3G>C
|
|
|
|
NM_001244008.2(KIF1A):c.4743+4G>C
|
rs2125592142
|
|
|
NM_001244008.2(KIF1A):c.4743G>A (p.Lys1581=)
|
rs2045426895
|
|
|
NM_001244008.2(KIF1A):c.4744-14C>T
|
|
|
|
NM_001244008.2(KIF1A):c.4744-15G>A
|
rs775861140
|
|
|
NM_001244008.2(KIF1A):c.4744-15G>T
|
|
|
|
NM_001244008.2(KIF1A):c.4744-16G>A
|
|
|
|
NM_001244008.2(KIF1A):c.4744-5C>G
|
|
|
|
NM_001244008.2(KIF1A):c.4744-6C>T
|
|
|
|
NM_001244008.2(KIF1A):c.4744-7T>C
|
rs2125586107
|
|
|
NM_001244008.2(KIF1A):c.4744-8C>T
|
|
|
|
NM_001244008.2(KIF1A):c.4744-9C>T
|
rs760129690
|
|
|
NM_001244008.2(KIF1A):c.474G>A (p.Leu158=)
|
|
|
|
NM_001244008.2(KIF1A):c.4753A>T (p.Met1585Leu)
|
rs1203273192
|
|
|
NM_001244008.2(KIF1A):c.4755G>A (p.Met1585Ile)
|
|
|
|
NM_001244008.2(KIF1A):c.4759G>A (p.Val1587Ile)
|
rs768639671
|
|
|
NM_001244008.2(KIF1A):c.4761C>T (p.Val1587=)
|
|
|
|
NM_001244008.2(KIF1A):c.4763C>A (p.Thr1588Asn)
|
|
|
|
NM_001244008.2(KIF1A):c.4764C>G (p.Thr1588=)
|
|
|
|
NM_001244008.2(KIF1A):c.4765C>G (p.Leu1589Val)
|
|
|
|
NM_001244008.2(KIF1A):c.4768C>T (p.Leu1590Phe)
|
|
|
|
NM_001244008.2(KIF1A):c.4769T>C (p.Leu1590Pro)
|
rs2125585935
|
|
|
NM_001244008.2(KIF1A):c.4772G>A (p.Arg1591Gln)
|
|
|
|
NM_001244008.2(KIF1A):c.4776C>A (p.Asp1592Glu)
|
|
|
|
NM_001244008.2(KIF1A):c.4776C>T (p.Asp1592=)
|
|
|
|
NM_001244008.2(KIF1A):c.4782G>T (p.Ser1594=)
|
|
|
|
NM_001244008.2(KIF1A):c.4783A>G (p.Met1595Val)
|
|
|
|
NM_001244008.2(KIF1A):c.4788C>T (p.Ser1596=)
|
|
|
|
NM_001244008.2(KIF1A):c.4789C>T (p.Pro1597Ser)
|
rs2045297930
|
|
|
NM_001244008.2(KIF1A):c.478C>T (p.Pro160Ser)
|
rs2054759897
|
|
|
NM_001244008.2(KIF1A):c.4794A>T (p.Leu1598=)
|
rs753060457
|
|
|
NM_001244008.2(KIF1A):c.4795G>T (p.Gly1599Trp)
|
|
|
|
NM_001244008.2(KIF1A):c.4796G>C (p.Gly1599Ala)
|
|
|
|
NM_001244008.2(KIF1A):c.4797G>A (p.Gly1599=)
|
|
|
|
NM_001244008.2(KIF1A):c.4801G>A (p.Ala1601Thr)
|
rs767196477
|
|
|
NM_001244008.2(KIF1A):c.4802C>A (p.Ala1601Asp)
|
|
|
|
NM_001244008.2(KIF1A):c.4802C>G (p.Ala1601Gly)
|
|
|
|
NM_001244008.2(KIF1A):c.4804A>C (p.Thr1602Pro)
|
rs2125585579
|
|
|
NM_001244008.2(KIF1A):c.4805C>G (p.Thr1602Ser)
|
rs1232607807
|
|
|
NM_001244008.2(KIF1A):c.4807C>T (p.Leu1603Phe)
|
|
|
|
NM_001244008.2(KIF1A):c.4809C>A (p.Leu1603=)
|
|
|
|
NM_001244008.2(KIF1A):c.4811C>A (p.Thr1604Asn)
|
|
|
|
NM_001244008.2(KIF1A):c.4811C>T (p.Thr1604Ile)
|
rs982977592
|
|
|
NM_001244008.2(KIF1A):c.4812C>T (p.Thr1604=)
|
rs76974316
|
|
|
NM_001244008.2(KIF1A):c.4813C>G (p.Pro1605Ala)
|
rs916993059
|
|
|
NM_001244008.2(KIF1A):c.4815C>T (p.Pro1605=)
|
|
|
|
NM_001244008.2(KIF1A):c.4816TCC[3] (p.Ser1607_Thr1608insSer)
|
|
|
|
NM_001244008.2(KIF1A):c.4826G>C (p.Cys1609Ser)
|
|
|
|
NM_001244008.2(KIF1A):c.482A>C (p.Lys161Thr)
|
|
|
|
NM_001244008.2(KIF1A):c.4836G>A (p.Leu1612=)
|
|
|
|
NM_001244008.2(KIF1A):c.4836G>T (p.Leu1612=)
|
|
|
|
NM_001244008.2(KIF1A):c.4839T>A (p.Val1613=)
|
|
|
|
NM_001244008.2(KIF1A):c.4846C>A (p.Arg1616=)
|
|
|
|
NM_001244008.2(KIF1A):c.4848G>A (p.Arg1616=)
|
|
|
|
NM_001244008.2(KIF1A):c.484A>G (p.Asn162Asp)
|
rs2126071649
|
|
|
NM_001244008.2(KIF1A):c.4852G>A (p.Gly1618Ser)
|
rs777997857
|
|
|
NM_001244008.2(KIF1A):c.4852G>T (p.Gly1618Cys)
|
rs777997857
|
|
|
NM_001244008.2(KIF1A):c.4856C>G (p.Ala1619Gly)
|
rs2045286506
|
|
|
NM_001244008.2(KIF1A):c.4859C>G (p.Thr1620Ser)
|
|
|
|
NM_001244008.2(KIF1A):c.4863C>T (p.Asp1621=)
|
rs2125585125
|
|
|
NM_001244008.2(KIF1A):c.4866G>C (p.Leu1622=)
|
|
|
|
NM_001244008.2(KIF1A):c.4868+14A>G
|
|
|
|
NM_001244008.2(KIF1A):c.4868+1G>C
|
rs1553624714
|
|
|
NM_001244008.2(KIF1A):c.4869-14C>G
|
|
|
|
NM_001244008.2(KIF1A):c.4869-14C>T
|
|
|
|
NM_001244008.2(KIF1A):c.4869-15C>T
|
|
|
|
NM_001244008.2(KIF1A):c.4869-18C>T
|
rs2045089282
|
|
|
NM_001244008.2(KIF1A):c.4869-7T>C
|
|
|
|
NM_001244008.2(KIF1A):c.4869-9G>A
|
|
|
|
NM_001244008.2(KIF1A):c.4869G>C (p.Arg1623Ser)
|
|
|
|
NM_001244008.2(KIF1A):c.4870A>T (p.Thr1624Ser)
|
|
|
|
NM_001244008.2(KIF1A):c.4871C>T (p.Thr1624Ile)
|
|
|
|
NM_001244008.2(KIF1A):c.4874C>G (p.Pro1625Arg)
|
|
|
|
NM_001244008.2(KIF1A):c.4875G>T (p.Pro1625=)
|
|
|
|
NM_001244008.2(KIF1A):c.4876C>A (p.Gln1626Lys)
|
|
|
|
NM_001244008.2(KIF1A):c.4877A>C (p.Gln1626Pro)
|
rs750942838
|
|
|
NM_001244008.2(KIF1A):c.4886C>G (p.Ser1629Cys)
|
rs2125575540
|
|
|
NM_001244008.2(KIF1A):c.4888C>A (p.Arg1630=)
|
|
|
|
NM_001244008.2(KIF1A):c.4888C>T (p.Arg1630Trp)
|
rs202072706
|
|
|
NM_001244008.2(KIF1A):c.4889G>C (p.Arg1630Pro)
|
|
|
|
NM_001244008.2(KIF1A):c.4893A>G (p.Pro1631=)
|
rs2125575463
|
|
|
NM_001244008.2(KIF1A):c.4895C>G (p.Ala1632Gly)
|
|
|
|
NM_001244008.2(KIF1A):c.4897A>G (p.Ser1633Gly)
|
|
|
|
NM_001244008.2(KIF1A):c.4898G>A (p.Ser1633Asn)
|
rs2125575413
|
|
|
NM_001244008.2(KIF1A):c.4898G>C (p.Ser1633Thr)
|
|
|
|
NM_001244008.2(KIF1A):c.489G>A (p.Lys163=)
|
|
|
|
NM_001244008.2(KIF1A):c.4905G>C (p.Glu1635Asp)
|
rs2125575383
|
|
|
NM_001244008.2(KIF1A):c.4915C>T (p.Leu1639=)
|
|
|
|
NM_001244008.2(KIF1A):c.4921G>A (p.Glu1641Lys)
|
|
|
|
NM_001244008.2(KIF1A):c.4923G>A (p.Glu1641=)
|
|
|
|
NM_001244008.2(KIF1A):c.4924G>A (p.Ala1642Thr)
|
|
|
|
NM_001244008.2(KIF1A):c.4926C>A (p.Ala1642=)
|
rs376581099
|
|
|
NM_001244008.2(KIF1A):c.4926C>G (p.Ala1642=)
|
rs376581099
|
|
|
NM_001244008.2(KIF1A):c.4926C>T (p.Ala1642=)
|
rs376581099
|
|
|
NM_001244008.2(KIF1A):c.4929C>A (p.Asp1643Glu)
|
rs2125575164
|
|
|
NM_001244008.2(KIF1A):c.4930T>C (p.Ser1644Pro)
|
rs2125575152
|
|
|
NM_001244008.2(KIF1A):c.4932C>T (p.Ser1644=)
|
|
|
|
NM_001244008.2(KIF1A):c.4934A>G (p.Lys1645Arg)
|
|
|
|
NM_001244008.2(KIF1A):c.4935G>C (p.Lys1645Asn)
|
|
|
|
NM_001244008.2(KIF1A):c.4941C>T (p.Leu1647=)
|
rs1174709612
|
|
|
NM_001244008.2(KIF1A):c.4942C>T (p.Pro1648Ser)
|
|
|
|
NM_001244008.2(KIF1A):c.4951G>A (p.Ala1651Thr)
|
rs112808596
|
|
|
NM_001244008.2(KIF1A):c.4953C>T (p.Ala1651=)
|
rs2125575026
|
|
|
NM_001244008.2(KIF1A):c.4954C>G (p.Arg1652Gly)
|
|
|
|
NM_001244008.2(KIF1A):c.4955G>T (p.Arg1652Leu)
|
rs376658420
|
|
|
NM_001244008.2(KIF1A):c.4957G>A (p.Ala1653Thr)
|
rs2045073432
|
|
|
NM_001244008.2(KIF1A):c.4964A>G (p.Glu1655Gly)
|
rs2125574925
|
|
|
NM_001244008.2(KIF1A):c.4967C>G (p.Thr1656Arg)
|
|
|
|
NM_001244008.2(KIF1A):c.4975G>C (p.Glu1659Gln)
|
|
|
|
NM_001244008.2(KIF1A):c.4977G>A (p.Glu1659=)
|
|
|
|
NM_001244008.2(KIF1A):c.4977G>C (p.Glu1659Asp)
|
|
|
|
NM_001244008.2(KIF1A):c.4981C>T (p.Gln1661Ter)
|
rs1575514086
|
|
|
NM_001244008.2(KIF1A):c.4993G>A (p.Val1665Ile)
|
|
|
|
NM_001244008.2(KIF1A):c.4995C>G (p.Val1665=)
|
rs2045069336
|
|
|
NM_001244008.2(KIF1A):c.5000A>G (p.Asp1667Gly)
|
rs1454545662
|
|
|
NM_001244008.2(KIF1A):c.5005C>T (p.Gln1669Ter)
|
|
|
|
NM_001244008.2(KIF1A):c.5006A>G (p.Gln1669Arg)
|
|
|
|
NM_001244008.2(KIF1A):c.5007G>A (p.Gln1669=)
|
rs1326344733
|
|
|
NM_001244008.2(KIF1A):c.500G>A (p.Arg167His)
|
rs2054757914
|
|
|
NM_001244008.2(KIF1A):c.5010G>A (p.Glu1670=)
|
|
|
|
NM_001244008.2(KIF1A):c.5014C>T (p.Arg1672Ter)
|
|
|
|
NM_001244008.2(KIF1A):c.5018T>C (p.Val1673Ala)
|
|
|
|
NM_001244008.2(KIF1A):c.501C>T (p.Arg167=)
|
|
|
|
NM_001244008.2(KIF1A):c.5021+17T>A
|
|
|
|
NM_001244008.2(KIF1A):c.5021+19G>A
|
|
|
|
NM_001244008.2(KIF1A):c.5021+2TG[2]
|
|
|
|
NM_001244008.2(KIF1A):c.5021+3G>A
|
|
|
|
NM_001244008.2(KIF1A):c.5021+8G>A
|
|
|
|
NM_001244008.2(KIF1A):c.5021+9G>A
|
|
|
|
NM_001244008.2(KIF1A):c.5022-12C>G
|
|
|
|
NM_001244008.2(KIF1A):c.5022-16C>T
|
rs2125568399
|
|
|
NM_001244008.2(KIF1A):c.5022-16CT[5]
|
|
|
|
NM_001244008.2(KIF1A):c.5022-3C>A
|
|
|
|
NM_001244008.2(KIF1A):c.5022-7C>T
|
|
|
|
NM_001244008.2(KIF1A):c.5022-8G>C
|
|
|
|
NM_001244008.2(KIF1A):c.5028C>T (p.Ile1676=)
|
rs369233025
|
|
|
NM_001244008.2(KIF1A):c.5038A>G (p.Lys1680Glu)
|
|
|
|
NM_001244008.2(KIF1A):c.5044T>C (p.Tyr1682His)
|
|
|
|
NM_001244008.2(KIF1A):c.5047C>G (p.Leu1683Val)
|
|
|
|
NM_001244008.2(KIF1A):c.5051A>G (p.His1684Arg)
|
rs2044948828
|
|
|
NM_001244008.2(KIF1A):c.5052C>T (p.His1684=)
|
rs2044948522
|
|
|
NM_001244008.2(KIF1A):c.5053T>C (p.Phe1685Leu)
|
|
|
|
NM_001244008.2(KIF1A):c.5058G>A (p.Leu1686=)
|
rs2044947303
|
|
|
NM_001244008.2(KIF1A):c.5059G>A (p.Glu1687Lys)
|
|
|
|
NM_001244008.2(KIF1A):c.5059G>C (p.Glu1687Gln)
|
|
|
|
NM_001244008.2(KIF1A):c.5063C>G (p.Pro1688Arg)
|
|
|
|
NM_001244008.2(KIF1A):c.5064G>A (p.Pro1688=)
|
rs527977882
|
|
|
NM_001244008.2(KIF1A):c.5064G>T (p.Pro1688=)
|
rs527977882
|
|
|
NM_001244008.2(KIF1A):c.5066A>G (p.His1689Arg)
|
|
|
|
NM_001244008.2(KIF1A):c.5074G>A (p.Gly1692Ser)
|
|
|
|
NM_001244008.2(KIF1A):c.5081C>T (p.Ala1694Val)
|
|
|
|
NM_001244008.2(KIF1A):c.5086C>A (p.Arg1696Ser)
|
rs772521110
|
|
|
NM_001244008.2(KIF1A):c.5086C>T (p.Arg1696Cys)
|
rs772521110
|
|
|
NM_001244008.2(KIF1A):c.5091C>A (p.Phe1697Leu)
|
|
|
|
NM_001244008.2(KIF1A):c.5101C>T (p.Arg1701Trp)
|
|
|
|
NM_001244008.2(KIF1A):c.5103G>A (p.Arg1701=)
|
|
|
|
NM_001244008.2(KIF1A):c.5104C>T (p.Arg1702Cys)
|
rs1434444226
|
|
|
NM_001244008.2(KIF1A):c.5107C>A (p.Pro1703Thr)
|
|
|
|
NM_001244008.2(KIF1A):c.5111A>G (p.Tyr1704Cys)
|
|
|
|
NM_001244008.2(KIF1A):c.5117A>T (p.Tyr1706Phe)
|
rs1331048988
|
|
|
NM_001244008.2(KIF1A):c.5120T>C (p.Met1707Thr)
|
rs1575512547
|
|
|
NM_001244008.2(KIF1A):c.5125A>C (p.Asn1709His)
|
|
|
|
NM_001244008.2(KIF1A):c.5129G>C (p.Ser1710Thr)
|
|
|
|
NM_001244008.2(KIF1A):c.5130C>G (p.Ser1710Arg)
|
|
|
|
NM_001244008.2(KIF1A):c.5133C>G (p.Asp1711Glu)
|
|
|
|
NM_001244008.2(KIF1A):c.5135A>G (p.Lys1712Arg)
|
|
|
|
NM_001244008.2(KIF1A):c.5148G>A (p.Glu1716=)
|
|
|
|
NM_001244008.2(KIF1A):c.5149C>T (p.Arg1717Trp)
|
|
|
|
NM_001244008.2(KIF1A):c.5154C>T (p.Phe1718=)
|
rs1042543542
|
|
|
NM_001244008.2(KIF1A):c.5163C>T (p.Asn1721=)
|
|
|
|
NM_001244008.2(KIF1A):c.516A>G (p.Pro172=)
|
rs758920773
|
|
|
NM_001244008.2(KIF1A):c.5173G>T (p.Ala1725Ser)
|
|
|
|
NM_001244008.2(KIF1A):c.5187C>T (p.Tyr1729=)
|
|
|
|
NM_001244008.2(KIF1A):c.518T>C (p.Leu173Pro)
|
rs2054755647
|
|
|
NM_001244008.2(KIF1A):c.5195A>C (p.Asp1732Ala)
|
|
|
|
NM_001244008.2(KIF1A):c.5195A>G (p.Asp1732Gly)
|
rs2044928015
|
|
|
NM_001244008.2(KIF1A):c.5197C>A (p.Gln1733Lys)
|
|
|
|
NM_001244008.2(KIF1A):c.5198A>G (p.Gln1733Arg)
|
|
|
|
NM_001244008.2(KIF1A):c.519G>A (p.Leu173=)
|
|
|
|
NM_001244008.2(KIF1A):c.519G>C (p.Leu173=)
|
|
|
|
NM_001244008.2(KIF1A):c.51C>A (p.Ser17=)
|
|
|
|
NM_001244008.2(KIF1A):c.5205T>G (p.Ala1735=)
|
rs1553624254
|
|
|
NM_001244008.2(KIF1A):c.5212A>C (p.Lys1738Gln)
|
rs2125566852
|
|
|
NM_001244008.2(KIF1A):c.5214+11G>A
|
|
|
|
NM_001244008.2(KIF1A):c.5214+12C>T
|
rs915387977
|
|
|
NM_001244008.2(KIF1A):c.5214+14C>A
|
|
|
|
NM_001244008.2(KIF1A):c.5214+15G>A
|
rs562481679
|
|
|
NM_001244008.2(KIF1A):c.5214+15G>T
|
|
|
|
NM_001244008.2(KIF1A):c.5214+16G>A
|
|
|
|
NM_001244008.2(KIF1A):c.5214+16G>T
|
rs1280442556
|
|
|
NM_001244008.2(KIF1A):c.5214+3G>A
|
rs1394328434
|
|
|
NM_001244008.2(KIF1A):c.5214+4C>A
|
rs1173881899
|
|
|
NM_001244008.2(KIF1A):c.5214+4C>T
|
rs1173881899
|
|
|
NM_001244008.2(KIF1A):c.5214+5G>A
|
rs1420863157
|
|
|
NM_001244008.2(KIF1A):c.5215-10C>T
|
rs2125559875
|
|
|
NM_001244008.2(KIF1A):c.5215-12C>T
|
rs2125559911
|
|
|
NM_001244008.2(KIF1A):c.5215-13C>T
|
|
|
|
NM_001244008.2(KIF1A):c.5215-18A>G
|
|
|
|
NM_001244008.2(KIF1A):c.5215-8C>T
|
rs1487108535
|
|
|
NM_001244008.2(KIF1A):c.5215A>G (p.Thr1739Ala)
|
|
|
|
NM_001244008.2(KIF1A):c.521T>C (p.Leu174Pro)
|
rs2126071436
|
|
|
NM_001244008.2(KIF1A):c.5220C>G (p.Pro1740=)
|
|
|
|
NM_001244008.2(KIF1A):c.5222A>G (p.Asn1741Ser)
|
|
|
|
NM_001244008.2(KIF1A):c.5227T>A (p.Phe1743Ile)
|
|
|
|
NM_001244008.2(KIF1A):c.5231C>T (p.Ala1744Val)
|
rs1234122019
|
|
|
NM_001244008.2(KIF1A):c.5240C>T (p.Thr1747Met)
|
|
|
|
NM_001244008.2(KIF1A):c.5249G>A (p.Arg1750His)
|
|
|
|
NM_001244008.2(KIF1A):c.524G>A (p.Gly175Glu)
|
rs1559528970
|
|
|
NM_001244008.2(KIF1A):c.524G>T (p.Gly175Val)
|
rs1559528970
|
|
|
NM_001244008.2(KIF1A):c.5251G>A (p.Gly1751Ser)
|
rs2044781488
|
|
|
NM_001244008.2(KIF1A):c.5253C>G (p.Gly1751=)
|
rs1335411801
|
|
|
NM_001244008.2(KIF1A):c.5253C>T (p.Gly1751=)
|
rs1335411801
|
|
|
NM_001244008.2(KIF1A):c.5254A>G (p.Ile1752Val)
|
|
|
|
NM_001244008.2(KIF1A):c.5254A>T (p.Ile1752Phe)
|
|
|
|
NM_001244008.2(KIF1A):c.525G>C (p.Gly175=)
|
|
|
|
NM_001244008.2(KIF1A):c.525G>T (p.Gly175=)
|
|
|
|
NM_001244008.2(KIF1A):c.5269G>T (p.Ala1757Ser)
|
|
|
|
NM_001244008.2(KIF1A):c.526C>T (p.Pro176Ser)
|
rs1553638627
|
|
|
NM_001244008.2(KIF1A):c.5270C>T (p.Ala1757Val)
|
rs1188467783
|
|
|
NM_001244008.2(KIF1A):c.5275G>C (p.Asp1759His)
|
|
|
|
NM_001244008.2(KIF1A):c.5280G>T (p.Lys1760Asn)
|
|
|
|
NM_001244008.2(KIF1A):c.5281G>A (p.Asp1761Asn)
|
|
|
|
NM_001244008.2(KIF1A):c.5281G>T (p.Asp1761Tyr)
|
|
|
|
NM_001244008.2(KIF1A):c.5302G>A (p.Ala1768Thr)
|
|
|
|
NM_001244008.2(KIF1A):c.5302G>T (p.Ala1768Ser)
|
rs779787163
|
|
|
NM_001244008.2(KIF1A):c.5313_5314delinsAG (p.Leu1772Val)
|
|
|
|
NM_001244008.2(KIF1A):c.5320G>T (p.Ala1774Ser)
|
rs2044773373
|
|
|
NM_001244008.2(KIF1A):c.5322C>G (p.Ala1774=)
|
|
|
|
NM_001244008.2(KIF1A):c.5328C>T (p.Thr1776=)
|
|
|
|
NM_001244008.2(KIF1A):c.532G>A (p.Val178Met)
|
|
|
|
NM_001244008.2(KIF1A):c.5333+7C>T
|
|
|
|
NM_001244008.2(KIF1A):c.5333+9G>A
|
|
|
|
NM_001244008.2(KIF1A):c.5333G>A (p.Arg1778Gln)
|
rs1373988210
|
|
|
NM_001244008.2(KIF1A):c.5334-16C>T
|
|
|
|
NM_001244008.2(KIF1A):c.5334-18del
|
rs2044688895
|
|
|
NM_001244008.2(KIF1A):c.5334G>A (p.Arg1778=)
|
rs2044685522
|
|
|
NM_001244008.2(KIF1A):c.5339A>C (p.Lys1780Thr)
|
|
|
|
NM_001244008.2(KIF1A):c.5344T>C (p.Ser1782Pro)
|
|
|
|
NM_001244008.2(KIF1A):c.5349A>G (p.Arg1783=)
|
rs2125553520
|
|
|
NM_001244008.2(KIF1A):c.5349_5351del (p.Arg1785del)
|
|
|
|
NM_001244008.2(KIF1A):c.534G>A (p.Val178=)
|
rs1212898248
|
|
|
NM_001244008.2(KIF1A):c.5350AGG[1] (p.Arg1785del)
|
rs760590728
|
|
|
NM_001244008.2(KIF1A):c.5351G>C (p.Arg1784Thr)
|
|
|
|
NM_001244008.2(KIF1A):c.5352G>A (p.Arg1784=)
|
rs2125553497
|
|
|
NM_001244008.2(KIF1A):c.5355G>T (p.Arg1785Ser)
|
rs779509876
|
|
|
NM_001244008.2(KIF1A):c.5359G>T (p.Ala1787Ser)
|
|
|
|
NM_001244008.2(KIF1A):c.5367_*11del (p.Met1789_Ter1792delinsXaa)
|
|
|
|
NM_001244008.2(KIF1A):c.5368C>G (p.Arg1790Gly)
|
|
|
|
NM_001244008.2(KIF1A):c.5369G>C (p.Arg1790Pro)
|
|
|
|
NM_001244008.2(KIF1A):c.536A>G (p.Glu179Gly)
|
rs879253948
|
|
|
NM_001244008.2(KIF1A):c.53G>A (p.Arg18Gln)
|
rs1056534650
|
|
|
NM_001244008.2(KIF1A):c.554C>T (p.Ala185Val)
|
rs2126071244
|
|
|
NM_001244008.2(KIF1A):c.561C>G (p.Thr187=)
|
|
|
|
NM_001244008.2(KIF1A):c.564C>T (p.Ser188=)
|
|
|
|
NM_001244008.2(KIF1A):c.567C>T (p.Tyr189=)
|
|
|
|
NM_001244008.2(KIF1A):c.576C>T (p.Ile192=)
|
|
|
|
NM_001244008.2(KIF1A):c.579G>A (p.Gln193=)
|
|
|
|
NM_001244008.2(KIF1A):c.587T>C (p.Met196Thr)
|
|
|
|
NM_001244008.2(KIF1A):c.590A>T (p.Asp197Val)
|
|
|
|
NM_001244008.2(KIF1A):c.608+12G>T
|
|
|
|
NM_001244008.2(KIF1A):c.608+13A>G
|
rs2126070994
|
|
|
NM_001244008.2(KIF1A):c.608+16C>A
|
rs2054746900
|
|
|
NM_001244008.2(KIF1A):c.608+18C>G
|
|
|
|
NM_001244008.2(KIF1A):c.608+18C>T
|
rs749379894
|
|
|
NM_001244008.2(KIF1A):c.608+6T>C
|
|
|
|
NM_001244008.2(KIF1A):c.609-15C>T
|
|
|
|
NM_001244008.2(KIF1A):c.609-17G>A
|
|
|
|
NM_001244008.2(KIF1A):c.609-19G>A
|
|
|
|
NM_001244008.2(KIF1A):c.609-19G>C
|
|
|
|
NM_001244008.2(KIF1A):c.609-1G>A
|
rs1559527796
|
|
|
NM_001244008.2(KIF1A):c.609-20C>G
|
|
|
|
NM_001244008.2(KIF1A):c.609-3C>T
|
rs2054554619
|
|
|
NM_001244008.2(KIF1A):c.609-6C>T
|
|
|
|
NM_001244008.2(KIF1A):c.609_610delinsAAAAG (p.Thr204delinsLysAla)
|
rs2126062809
|
|
|
NM_001244008.2(KIF1A):c.618G>C (p.Ala206=)
|
|
|
|
NM_001244008.2(KIF1A):c.630G>A (p.Met210Ile)
|
|
|
|
NM_001244008.2(KIF1A):c.631A>G (p.Asn211Asp)
|
|
|
|
NM_001244008.2(KIF1A):c.633T>G (p.Asn211Lys)
|
|
|
|
NM_001244008.2(KIF1A):c.636G>A (p.Glu212=)
|
|
|
|
NM_001244008.2(KIF1A):c.642C>T (p.Ser214=)
|
|
|
|
NM_001244008.2(KIF1A):c.643A>C (p.Ser215Arg)
|
rs672601367
|
|
|
NM_001244008.2(KIF1A):c.644G>A (p.Ser215Asn)
|
rs2126062641
|
|
|
NM_001244008.2(KIF1A):c.646C>T (p.Arg216Cys)
|
rs797045164
|
|
|
NM_001244008.2(KIF1A):c.64C>T (p.Arg22Cys)
|
rs767331601
|
|
|
NM_001244008.2(KIF1A):c.651C>T (p.Ser217=)
|
rs267599291
|
|
|
NM_001244008.2(KIF1A):c.656C>A (p.Ala219Asp)
|
|
|
|
NM_001244008.2(KIF1A):c.658G>T (p.Val220Phe)
|
rs201314877
|
|
|
NM_001244008.2(KIF1A):c.670A>G (p.Ile224Val)
|
rs2126062499
|
|
|
NM_001244008.2(KIF1A):c.675C>T (p.Phe225=)
|
|
|
|
NM_001244008.2(KIF1A):c.681G>A (p.Gln227=)
|
|
|
|
NM_001244008.2(KIF1A):c.684G>A (p.Lys228=)
|
|
|
|
NM_001244008.2(KIF1A):c.689A>G (p.His230Arg)
|
|
|
|
NM_001244008.2(KIF1A):c.692A>G (p.Asp231Gly)
|
rs773459672
|
|
|
NM_001244008.2(KIF1A):c.693C>A (p.Asp231Glu)
|
|
|
|
NM_001244008.2(KIF1A):c.6C>A (p.Ala2=)
|
|
|
|
NM_001244008.2(KIF1A):c.703A>G (p.Asn235Asp)
|
|
|
|
NM_001244008.2(KIF1A):c.704A>G (p.Asn235Ser)
|
|
|
|
NM_001244008.2(KIF1A):c.710C>T (p.Thr237Ile)
|
|
|
|
NM_001244008.2(KIF1A):c.720+10T>C
|
|
|
|
NM_001244008.2(KIF1A):c.720+12G>A
|
rs999172982
|
|
|
NM_001244008.2(KIF1A):c.720+17A>T
|
|
|
|
NM_001244008.2(KIF1A):c.720+18C>T
|
|
|
|
NM_001244008.2(KIF1A):c.720+3G>A
|
rs759856763
|
|
|
NM_001244008.2(KIF1A):c.720+5G>C
|
rs377502239
|
|
|
NM_001244008.2(KIF1A):c.720+9G>A
|
|
|
|
NM_001244008.2(KIF1A):c.721-11dup
|
rs2054377646
|
|
|
NM_001244008.2(KIF1A):c.721-13T>G
|
|
|
|
NM_001244008.2(KIF1A):c.721-18A>C
|
|
|
|
NM_001244008.2(KIF1A):c.721-8T>C
|
|
|
|
NM_001244008.2(KIF1A):c.721G>T (p.Val241Leu)
|
|
|
|
NM_001244008.2(KIF1A):c.734G>T (p.Ser245Ile)
|
|
|
|
NM_001244008.2(KIF1A):c.737T>G (p.Leu246Arg)
|
rs1575626071
|
|
|
NM_001244008.2(KIF1A):c.739G>A (p.Val247Met)
|
|
|
|
NM_001244008.2(KIF1A):c.740T>C (p.Val247Ala)
|
|
|
|
NM_001244008.2(KIF1A):c.741G>A (p.Val247=)
|
rs1187398914
|
|
|
NM_001244008.2(KIF1A):c.742G>A (p.Asp248Asn)
|
rs2126054501
|
|
|
NM_001244008.2(KIF1A):c.745C>A (p.Leu249Met)
|
|
|
|
NM_001244008.2(KIF1A):c.748G>T (p.Ala250Ser)
|
rs2054374864
|
|
|
NM_001244008.2(KIF1A):c.749C>A (p.Ala250Asp)
|
rs1559526692
|
|
|
NM_001244008.2(KIF1A):c.751G>A (p.Gly251Arg)
|
|
|
|
NM_001244008.2(KIF1A):c.753G>A (p.Gly251=)
|
rs2126054446
|
|
|
NM_001244008.2(KIF1A):c.756C>G (p.Ser252Arg)
|
rs555641774
|
|
|
NM_001244008.2(KIF1A):c.757G>A (p.Glu253Lys)
|
rs672601369
|
|
|
NM_001244008.2(KIF1A):c.759G>C (p.Glu253Asp)
|
rs762126771
|
|
|
NM_001244008.2(KIF1A):c.760C>G (p.Arg254Gly)
|
rs879253888
|
|
|
NM_001244008.2(KIF1A):c.760C>T (p.Arg254Trp)
|
rs879253888
|
|
|
NM_001244008.2(KIF1A):c.761G>A (p.Arg254Gln)
|
rs886041692
|
|
|
NM_001244008.2(KIF1A):c.762G>A (p.Arg254=)
|
|
|
|
NM_001244008.2(KIF1A):c.764C>A (p.Ala255Asp)
|
|
|
|
NM_001244008.2(KIF1A):c.764C>T (p.Ala255Val)
|
rs387906798
|
|
|
NM_001244008.2(KIF1A):c.766G>A (p.Asp256Asn)
|
|
|
|
NM_001244008.2(KIF1A):c.76T>C (p.Cys26Arg)
|
rs2126147743
|
|
|
NM_001244008.2(KIF1A):c.773C>A (p.Thr258Lys)
|
rs1553638086
|
|
|
NM_001244008.2(KIF1A):c.773C>T (p.Thr258Met)
|
rs1553638086
|
|
|
NM_001244008.2(KIF1A):c.780C>T (p.Ala260=)
|
|
|
|
NM_001244008.2(KIF1A):c.785G>T (p.Gly262Val)
|
|
|
|
NM_001244008.2(KIF1A):c.785_798+1del
|
rs2126054169
|
|
|
NM_001244008.2(KIF1A):c.786C>G (p.Gly262=)
|
rs1290016793
|
|
|
NM_001244008.2(KIF1A):c.788C>A (p.Thr263Lys)
|
|
|
|
NM_001244008.2(KIF1A):c.791G>A (p.Arg264His)
|
rs1413440372
|
|
|
NM_001244008.2(KIF1A):c.793C>G (p.Leu265Val)
|
rs1559526605
|
|
|
NM_001244008.2(KIF1A):c.798+12G>A
|
|
|
|
NM_001244008.2(KIF1A):c.798+12G>C
|
|
|
|
NM_001244008.2(KIF1A):c.798+12GCC[3]
|
|
|
|
NM_001244008.2(KIF1A):c.798+14C>T
|
|
|
|
NM_001244008.2(KIF1A):c.798+17C>G
|
|
|
|
NM_001244008.2(KIF1A):c.798+17C>T
|
|
|
|
NM_001244008.2(KIF1A):c.798+19T>C
|
|
|
|
NM_001244008.2(KIF1A):c.798+1G>A
|
rs1064796565
|
|
|
NM_001244008.2(KIF1A):c.798+2T>G
|
|
|
|
NM_001244008.2(KIF1A):c.798+4G>A
|
|
|
|
NM_001244008.2(KIF1A):c.799-16T>C
|
|
|
|
NM_001244008.2(KIF1A):c.799-18T>C
|
|
|
|
NM_001244008.2(KIF1A):c.799-19C>G
|
rs1361114116
|
|
|
NM_001244008.2(KIF1A):c.799-20A>C
|
|
|
|
NM_001244008.2(KIF1A):c.799-3C>A
|
rs772721638
|
|
|
NM_001244008.2(KIF1A):c.799-4G>C
|
|
|
|
NM_001244008.2(KIF1A):c.799-4G>T
|
rs759945798
|
|
|
NM_001244008.2(KIF1A):c.799-7C>T
|
|
|
|
NM_001244008.2(KIF1A):c.799-8G>C
|
|
|
|
NM_001244008.2(KIF1A):c.799G>A (p.Glu267Lys)
|
rs1553637932
|
|
|
NM_001244008.2(KIF1A):c.799G>C (p.Glu267Gln)
|
rs1553637932
|
|
|
NM_001244008.2(KIF1A):c.79A>G (p.Ile27Val)
|
|
|
|
NM_001244008.2(KIF1A):c.79A>T (p.Ile27Phe)
|
rs2056552812
|
|
|
NM_001244008.2(KIF1A):c.800A>G (p.Glu267Gly)
|
|
|
|
NM_001244008.2(KIF1A):c.801G>T (p.Glu267Asp)
|
rs2126050077
|
|
|
NM_001244008.2(KIF1A):c.802G>A (p.Gly268Arg)
|
rs1575624664
|
|
|
NM_001244008.2(KIF1A):c.802G>T (p.Gly268Trp)
|
|
|
|
NM_001244008.2(KIF1A):c.803G>A (p.Gly268Glu)
|
rs1057518226
|
|
|
NM_001244008.2(KIF1A):c.805del (p.Ala269fs)
|
|
|
|
NM_001244008.2(KIF1A):c.806C>A (p.Ala269Asp)
|
|
|
|
NM_001244008.2(KIF1A):c.806C>T (p.Ala269Val)
|
|
|
|
NM_001244008.2(KIF1A):c.807C>T (p.Ala269=)
|
|
|
|
NM_001244008.2(KIF1A):c.815A>G (p.Asn272Ser)
|
rs876661283
|
|
|
NM_001244008.2(KIF1A):c.821C>T (p.Ser274Leu)
|
rs797045655
|
|
|
NM_001244008.2(KIF1A):c.822G>A (p.Ser274=)
|
rs553008418
|
|
|
NM_001244008.2(KIF1A):c.822G>T (p.Ser274=)
|
rs553008418
|
|
|
NM_001244008.2(KIF1A):c.824T>A (p.Leu275Gln)
|
|
|
|
NM_001244008.2(KIF1A):c.825G>A (p.Leu275=)
|
rs2126049902
|
|
|
NM_001244008.2(KIF1A):c.828C>T (p.Thr276=)
|
|
|
|
NM_001244008.2(KIF1A):c.831C>T (p.Thr277=)
|
rs1575624578
|
|
|
NM_001244008.2(KIF1A):c.834G>A (p.Leu278=)
|
|
|
|
NM_001244008.2(KIF1A):c.841G>C (p.Val281Leu)
|
rs2126049787
|
|
|
NM_001244008.2(KIF1A):c.842T>A (p.Val281Asp)
|
|
|
|
NM_001244008.2(KIF1A):c.844_846dup (p.Ile282dup)
|
rs2054276892
|
|
|
NM_001244008.2(KIF1A):c.848C>G (p.Ser283Cys)
|
rs1291269882
|
|
|
NM_001244008.2(KIF1A):c.849C>A (p.Ser283=)
|
|
|
|
NM_001244008.2(KIF1A):c.850G>T (p.Ala284Ser)
|
rs756136593
|
|
|
NM_001244008.2(KIF1A):c.855G>C (p.Leu285=)
|
rs2054275350
|
|
|
NM_001244008.2(KIF1A):c.858T>C (p.Ala286=)
|
rs1475414889
|
|
|
NM_001244008.2(KIF1A):c.864+11C>A
|
rs377722824
|
|
|
NM_001244008.2(KIF1A):c.864+11C>G
|
|
|
|
NM_001244008.2(KIF1A):c.864+11C>T
|
rs377722824
|
|
|
NM_001244008.2(KIF1A):c.864+12G>T
|
|
|
|
NM_001244008.2(KIF1A):c.864+13G>A
|
|
|
|
NM_001244008.2(KIF1A):c.864+15C>T
|
|
|
|
NM_001244008.2(KIF1A):c.864+18G>A
|
|
|
|
NM_001244008.2(KIF1A):c.864+1_864+24del
|
|
|
|
NM_001244008.2(KIF1A):c.864+1del
|
rs2126049633
|
|
|
NM_001244008.2(KIF1A):c.864+3G>A
|
|
|
|
NM_001244008.2(KIF1A):c.864+5G>A
|
|
|
|
NM_001244008.2(KIF1A):c.864+5G>C
|
|
|
|
NM_001244008.2(KIF1A):c.864+6T>C
|
|
|
|
NM_001244008.2(KIF1A):c.864+7G>A
|
rs2126049596
|
|
|
NM_001244008.2(KIF1A):c.864+8G>A
|
rs371393071
|
|
|
NM_001244008.2(KIF1A):c.864+8G>T
|
rs371393071
|
|
|
NM_001244008.2(KIF1A):c.865-13T>C
|
|
|
|
NM_001244008.2(KIF1A):c.865-19T>C
|
|
|
|
NM_001244008.2(KIF1A):c.865-24CT[2]
|
rs140674901
|
|
|
NM_001244008.2(KIF1A):c.865-24CT[3]
|
|
|
|
NM_001244008.2(KIF1A):c.865-8C>G
|
rs1407458603
|
|
|
NM_001244008.2(KIF1A):c.869C>T (p.Ser290Phe)
|
|
|
|
NM_001244008.2(KIF1A):c.86A>T (p.Gln29Leu)
|
|
|
|
NM_001244008.2(KIF1A):c.873A>G (p.Gly291=)
|
|
|
|
NM_001244008.2(KIF1A):c.874C>G (p.Pro292Ala)
|
|
|
|
NM_001244008.2(KIF1A):c.875C>T (p.Pro292Leu)
|
|
|
|
NM_001244008.2(KIF1A):c.882+13C>T
|
rs2126046264
|
|
|
NM_001244008.2(KIF1A):c.882+17A>G
|
rs2126046219
|
|
|
NM_001244008.2(KIF1A):c.882+19_882+38del
|
rs2126045936
|
|
|
NM_001244008.2(KIF1A):c.882+20C>G
|
|
|
|
NM_001244008.2(KIF1A):c.882+5G>A
|
rs2054211236
|
|
|
NM_001244008.2(KIF1A):c.882+6C>A
|
rs1290737564
|
|
|
NM_001244008.2(KIF1A):c.882+6C>G
|
rs1290737564
|
|
|
NM_001244008.2(KIF1A):c.882+7G>A
|
|
|
|
NM_001244008.2(KIF1A):c.882+9C>T
|
|
|
|
NM_001244008.2(KIF1A):c.883-10T>C
|
|
|
|
NM_001244008.2(KIF1A):c.883-11C>T
|
|
|
|
NM_001244008.2(KIF1A):c.883-18A>G
|
|
|
|
NM_001244008.2(KIF1A):c.883-5C>G
|
rs201408083
|
|
|
NM_001244008.2(KIF1A):c.883-5C>T
|
|
|
|
NM_001244008.2(KIF1A):c.883-6C>G
|
|
|
|
NM_001244008.2(KIF1A):c.883-7C>A
|
|
|
|
NM_001244008.2(KIF1A):c.883-7C>G
|
rs957063587
|
|
|
NM_001244008.2(KIF1A):c.883-8C>A
|
|
|
|
NM_001244008.2(KIF1A):c.883-9C>A
|
|
|
|
NM_001244008.2(KIF1A):c.886A>G (p.Lys296Glu)
|
|
|
|
NM_001244008.2(KIF1A):c.893AGA[2] (p.Lys300del)
|
rs751165127
|
|
|
NM_001244008.2(KIF1A):c.89T>C (p.Met30Thr)
|
rs2056552194
|
|
|
NM_001244008.2(KIF1A):c.902C>T (p.Thr301Ile)
|
|
|
|
NM_001244008.2(KIF1A):c.909C>T (p.Phe303=)
|
|
|
|
NM_001244008.2(KIF1A):c.914C>T (p.Pro305Leu)
|
rs1131690804
|
|
|
NM_001244008.2(KIF1A):c.915G>T (p.Pro305=)
|
|
|
|
NM_001244008.2(KIF1A):c.920G>A (p.Arg307Gln)
|
rs1064793161
|
|
|
NM_001244008.2(KIF1A):c.928G>A (p.Val310Met)
|
|
|
|
NM_001244008.2(KIF1A):c.930G>A (p.Val310=)
|
|
|
|
NM_001244008.2(KIF1A):c.931T>C (p.Leu311=)
|
|
|
|
NM_001244008.2(KIF1A):c.933G>A (p.Leu311=)
|
|
|
|
NM_001244008.2(KIF1A):c.933G>T (p.Leu311Phe)
|
|
|
|
NM_001244008.2(KIF1A):c.934A>C (p.Thr312Pro)
|
rs2052660081
|
|
|
NM_001244008.2(KIF1A):c.935C>T (p.Thr312Ile)
|
|
|
|
NM_001244008.2(KIF1A):c.946C>T (p.Arg316Trp)
|
rs672601370
|
|
|
NM_001244008.2(KIF1A):c.947G>A (p.Arg316Gln)
|
rs749718096
|
|
|
NM_001244008.2(KIF1A):c.954C>A (p.Asn318Lys)
|
rs1553635953
|
|
|
NM_001244008.2(KIF1A):c.958+10T>C
|
|
|
|
NM_001244008.2(KIF1A):c.958+11G>T
|
|
|
|
NM_001244008.2(KIF1A):c.958+14G>C
|
|
|
|
NM_001244008.2(KIF1A):c.958+1G>C
|
rs780380861
|
|
|
NM_001244008.2(KIF1A):c.958+8C>A
|
|
|
|
NM_001244008.2(KIF1A):c.959-11T>C
|
|
|
|
NM_001244008.2(KIF1A):c.959-12T>G
|
|
|
|
NM_001244008.2(KIF1A):c.959-13C>T
|
|
|
|
NM_001244008.2(KIF1A):c.959-15G>A
|
|
|
|
NM_001244008.2(KIF1A):c.959-16G>T
|
|
|
|
NM_001244008.2(KIF1A):c.959-18C>G
|
|
|
|
NM_001244008.2(KIF1A):c.959-9_959-7del
|
rs779790393
|
|
|
NM_001244008.2(KIF1A):c.959G>A (p.Gly320Asp)
|
|
|
|
NM_001244008.2(KIF1A):c.960C>T (p.Gly320=)
|
rs764792688
|
|
|
NM_001244008.2(KIF1A):c.961G>A (p.Gly321Ser)
|
|
|
|
NM_001244008.2(KIF1A):c.971G>A (p.Arg324Lys)
|
|
|
|
NM_001244008.2(KIF1A):c.972G>C (p.Arg324Ser)
|
|
|
|
NM_001244008.2(KIF1A):c.976G>C (p.Ala326Pro)
|
|
|
|
NM_001244008.2(KIF1A):c.984G>A (p.Val328=)
|
|
|
|
NM_001244008.2(KIF1A):c.991_992delinsCC (p.Leu331Pro)
|
rs2125976792
|
|
|
NM_001244008.2(KIF1A):c.997C>G (p.Pro333Ala)
|
|
|
|
NM_001253852.3(AP4B1):c.-2_4delinsGCCA (p.Met1fs)
|
rs1558100393
|
|
|
NM_001253852.3(AP4B1):c.1023C>T (p.Asn341=)
|
|
|
|
NM_001253852.3(AP4B1):c.1030A>C (p.Asn344His)
|
|
|
|
NM_001253852.3(AP4B1):c.1066del (p.Cys356fs)
|
|
|
|
NM_001253852.3(AP4B1):c.1067G>T (p.Cys356Phe)
|
rs770948820
|
|
|
NM_001253852.3(AP4B1):c.1076T>G (p.Val359Gly)
|
rs1668009628
|
|
|
NM_001253852.3(AP4B1):c.1098T>C (p.Ala366=)
|
|
|
|
NM_001253852.3(AP4B1):c.1098dup (p.Ala367fs)
|
|
|
|
NM_001253852.3(AP4B1):c.1106_1114+8del
|
|
|
|
NM_001253852.3(AP4B1):c.1112_1113insGGAGC (p.Ile371fs)
|
|
|
|
NM_001253852.3(AP4B1):c.1114+14C>T
|
|
|
|
NM_001253852.3(AP4B1):c.1114+29G>C
|
rs1391634567
|
|
|
NM_001253852.3(AP4B1):c.1115-13C>T
|
|
|
|
NM_001253852.3(AP4B1):c.1122_1123insTTGTAGGTGCCAGGACTTCTTTTGTAGGT (p.Ala375delinsLeuTer)
|
|
|
|
NM_001253852.3(AP4B1):c.113+10A>G
|
|
|
|
NM_001253852.3(AP4B1):c.113+10A>T
|
|
|
|
NM_001253852.3(AP4B1):c.113+13T>G
|
|
|
|
NM_001253852.3(AP4B1):c.113+20G>T
|
|
|
|
NM_001253852.3(AP4B1):c.113G>C (p.Arg38Thr)
|
|
|
|
NM_001253852.3(AP4B1):c.114-10C>T
|
rs200301524
|
|
|
NM_001253852.3(AP4B1):c.114-13G>T
|
|
|
|
NM_001253852.3(AP4B1):c.114-14T>C
|
|
|
|
NM_001253852.3(AP4B1):c.114-2A>C
|
rs879255396
|
|
|
NM_001253852.3(AP4B1):c.1160_1161del (p.Thr387fs)
|
rs587779388
|
|
|
NM_001253852.3(AP4B1):c.1163A>C (p.Glu388Ala)
|
rs1667823558
|
|
|
NM_001253852.3(AP4B1):c.1177C>A (p.Arg393=)
|
|
|
|
NM_001253852.3(AP4B1):c.1181A>C (p.Gln394Pro)
|
|
|
|
NM_001253852.3(AP4B1):c.1181_1182del (p.Gln394fs)
|
rs2101015147
|
|
|
NM_001253852.3(AP4B1):c.1198+5T>C
|
rs1276393155
|
|
|
NM_001253852.3(AP4B1):c.1198+7C>A
|
|
|
|
NM_001253852.3(AP4B1):c.1199-13G>A
|
|
|
|
NM_001253852.3(AP4B1):c.1199-18C>T
|
|
|
|
NM_001253852.3(AP4B1):c.1240C>T (p.Gln414Ter)
|
|
|
|
NM_001253852.3(AP4B1):c.1258T>C (p.Cys420Arg)
|
rs1227614224
|
|
|
NM_001253852.3(AP4B1):c.1269G>A (p.Leu423=)
|
|
|
|
NM_001253852.3(AP4B1):c.1272C>T (p.Pro424=)
|
rs759742089
|
|
|
NM_001253852.3(AP4B1):c.1294G>A (p.Asp432Asn)
|
rs1667689616
|
|
|
NM_001253852.3(AP4B1):c.1302+8G>A
|
rs2101008518
|
|
|
NM_001253852.3(AP4B1):c.1317dup (p.Ile440fs)
|
|
|
|
NM_001253852.3(AP4B1):c.1324_1331del (p.Leu442fs)
|
|
|
|
NM_001253852.3(AP4B1):c.1331G>A (p.Gly444Asp)
|
|
|
|
NM_001253852.3(AP4B1):c.1337A>G (p.His446Arg)
|
rs748049847
|
|
|
NM_001253852.3(AP4B1):c.1342G>A (p.Glu448Lys)
|
rs2100998541
|
|
|
NM_001253852.3(AP4B1):c.1357G>T (p.Ala453Ser)
|
rs2100998376
|
|
|
NM_001253852.3(AP4B1):c.1365T>A (p.Tyr455Ter)
|
rs114201291
|
|
|
NM_001253852.3(AP4B1):c.1407T>C (p.Phe469=)
|
|
|
|
NM_001253852.3(AP4B1):c.1444C>T (p.Arg482Cys)
|
|
|
|
NM_001253852.3(AP4B1):c.1459C>A (p.Arg487=)
|
|
|
|
NM_001253852.3(AP4B1):c.1459C>T (p.Arg487Ter)
|
rs771888480
|
|
|
NM_001253852.3(AP4B1):c.1463C>A (p.Pro488His)
|
|
|
|
NM_001253852.3(AP4B1):c.1466C>G (p.Ala489Gly)
|
rs1667457042
|
|
|
NM_001253852.3(AP4B1):c.1474C>G (p.Gln492Glu)
|
rs1054252163
|
|
|
NM_001253852.3(AP4B1):c.1485A>G (p.Leu495=)
|
rs878886670
|
|
|
NM_001253852.3(AP4B1):c.1490_1503del (p.Arg497fs)
|
rs1553257236
|
|
|
NM_001253852.3(AP4B1):c.1494G>C (p.Leu498Phe)
|
rs1440975141
|
|
|
NM_001253852.3(AP4B1):c.1499A>G (p.Tyr500Cys)
|
rs1667452008
|
|
|
NM_001253852.3(AP4B1):c.1510+12A>G
|
|
|
|
NM_001253852.3(AP4B1):c.1510+2T>C
|
rs1667449135
|
|
|
NM_001253852.3(AP4B1):c.1511-19A>G
|
|
|
|
NM_001253852.3(AP4B1):c.1544del (p.Gly515fs)
|
rs1667419336
|
|
|
NM_001253852.3(AP4B1):c.1560C>T (p.Arg520=)
|
|
|
|
NM_001253852.3(AP4B1):c.1571T>C (p.Val524Ala)
|
|
|
|
NM_001253852.3(AP4B1):c.1576A>G (p.Ile526Val)
|
|
|
|
NM_001253852.3(AP4B1):c.1585G>A (p.Val529Ile)
|
|
|
|
NM_001253852.3(AP4B1):c.1588A>G (p.Lys530Glu)
|
|
|
|
NM_001253852.3(AP4B1):c.1596T>C (p.Ile532=)
|
rs2100995308
|
|
|
NM_001253852.3(AP4B1):c.1608T>A (p.Pro536=)
|
rs1558079074
|
|
|
NM_001253852.3(AP4B1):c.1612del (p.Ser538fs)
|
|
|
|
NM_001253852.3(AP4B1):c.1633T>C (p.Leu545=)
|
rs2100995025
|
|
|
NM_001253852.3(AP4B1):c.1644G>A (p.Pro548=)
|
|
|
|
NM_001253852.3(AP4B1):c.1660A>T (p.Asn554Tyr)
|
rs2100994814
|
|
|
NM_001253852.3(AP4B1):c.1696G>C (p.Val566Leu)
|
rs2100994599
|
|
|
NM_001253852.3(AP4B1):c.1703G>A (p.Gly568Asp)
|
rs759495705
|
|
|
NM_001253852.3(AP4B1):c.1708G>A (p.Ala570Thr)
|
|
|
|
NM_001253852.3(AP4B1):c.1724T>G (p.Ile575Ser)
|
|
|
|
NM_001253852.3(AP4B1):c.1739G>T (p.Gly580Val)
|
rs762174414
|
|
|
NM_001253852.3(AP4B1):c.1747C>T (p.Arg583Cys)
|
|
|
|
NM_001253852.3(AP4B1):c.176C>G (p.Thr59Ser)
|
|
|
|
NM_001253852.3(AP4B1):c.1785C>T (p.Ala595=)
|
|
|
|
NM_001253852.3(AP4B1):c.1786G>A (p.Ala596Thr)
|
|
|
|
NM_001253852.3(AP4B1):c.1792+11T>C
|
|
|
|
NM_001253852.3(AP4B1):c.1792+16A>G
|
|
|
|
NM_001253852.3(AP4B1):c.1792+8C>T
|
|
|
|
NM_001253852.3(AP4B1):c.1793-9C>A
|
|
|
|
NM_001253852.3(AP4B1):c.1819G>C (p.Glu607Gln)
|
rs1166699876
|
|
|
NM_001253852.3(AP4B1):c.1821G>A (p.Glu607=)
|
|
|
|
NM_001253852.3(AP4B1):c.182A>T (p.Asp61Val)
|
|
|
|
NM_001253852.3(AP4B1):c.183T>C (p.Asp61=)
|
|
|
|
NM_001253852.3(AP4B1):c.1863C>G (p.Val621=)
|
|
|
|
NM_001253852.3(AP4B1):c.1870C>G (p.Arg624Gly)
|
rs368828060
|
|
|
NM_001253852.3(AP4B1):c.1899A>G (p.Lys633=)
|
|
|
|
NM_001253852.3(AP4B1):c.1901C>G (p.Thr634Ser)
|
|
|
|
NM_001253852.3(AP4B1):c.1919T>G (p.Val640Gly)
|
|
|
|
NM_001253852.3(AP4B1):c.1922C>T (p.Ala641Val)
|
rs1667332064
|
|
|
NM_001253852.3(AP4B1):c.1926T>C (p.His642=)
|
rs1480000484
|
|
|
NM_001253852.3(AP4B1):c.1931A>G (p.Gln644Arg)
|
rs1667330271
|
|
|
NM_001253852.3(AP4B1):c.1939C>G (p.Pro647Ala)
|
|
|
|
NM_001253852.3(AP4B1):c.1962T>C (p.Pro654=)
|
rs1667327766
|
|
|
NM_001253852.3(AP4B1):c.1981C>A (p.Leu661Ile)
|
rs1667326839
|
|
|
NM_001253852.3(AP4B1):c.198G>C (p.Lys66Asn)
|
rs374241047
|
|
|
NM_001253852.3(AP4B1):c.199T>C (p.Leu67=)
|
|
|
|
NM_001253852.3(AP4B1):c.2020G>T (p.Ala674Ser)
|
rs769479430
|
|
|
NM_001253852.3(AP4B1):c.202G>A (p.Val68Ile)
|
|
|
|
NM_001253852.3(AP4B1):c.2040A>G (p.Lys680=)
|
|
|
|
NM_001253852.3(AP4B1):c.207T>C (p.Tyr69=)
|
|
|
|
NM_001253852.3(AP4B1):c.2082A>T (p.Leu694Phe)
|
rs1553256829
|
|
|
NM_001253852.3(AP4B1):c.2083A>C (p.Thr695Pro)
|
|
|
|
NM_001253852.3(AP4B1):c.2099A>T (p.Glu700Val)
|
rs768308955
|
|
|
NM_001253852.3(AP4B1):c.2123_2133del (p.Ile708fs)
|
|
|
|
NM_001253852.3(AP4B1):c.2131A>C (p.Lys711Gln)
|
|
|
|
NM_001253852.3(AP4B1):c.2162A>G (p.Asn721Ser)
|
|
|
|
NM_001253852.3(AP4B1):c.2179T>C (p.Leu727=)
|
|
|
|
NM_001253852.3(AP4B1):c.219C>A (p.Cys73Ter)
|
rs2101044378
|
|
|
NM_001253852.3(AP4B1):c.2211A>G (p.Ile737Met)
|
|
|
|
NM_001253852.3(AP4B1):c.229C>T (p.Pro77Ser)
|
|
|
|
NM_001253852.3(AP4B1):c.298A>G (p.Met100Val)
|
rs752682155
|
|
|
NM_001253852.3(AP4B1):c.311_312delinsC (p.Leu104fs)
|
rs797045244
|
|
|
NM_001253852.3(AP4B1):c.313del (p.Ala105fs)
|
rs587783179
|
|
|
NM_001253852.3(AP4B1):c.320G>A (p.Arg107Gln)
|
|
|
|
NM_001253852.3(AP4B1):c.323G>T (p.Ser108Ile)
|
|
|
|
NM_001253852.3(AP4B1):c.336C>T (p.Leu112=)
|
rs1461336598
|
|
|
NM_001253852.3(AP4B1):c.337A>G (p.Arg113Gly)
|
rs1668423302
|
|
|
NM_001253852.3(AP4B1):c.338+19G>C
|
rs2101043152
|
|
|
NM_001253852.3(AP4B1):c.338+20_338+23del
|
rs537405509
|
|
|
NM_001253852.3(AP4B1):c.338+5G>A
|
rs1019204290
|
|
|
NM_001253852.3(AP4B1):c.339-12T>C
|
|
|
|
NM_001253852.3(AP4B1):c.339-16A>C
|
rs766923052
|
|
|
NM_001253852.3(AP4B1):c.339-16A>G
|
|
|
|
NM_001253852.3(AP4B1):c.339-7T>C
|
|
|
|
NM_001253852.3(AP4B1):c.352C>T (p.Gln118Ter)
|
rs1013939776
|
|
|
NM_001253852.3(AP4B1):c.37C>A (p.Leu13Met)
|
|
|
|
NM_001253852.3(AP4B1):c.385C>T (p.Leu129=)
|
|
|
|
NM_001253852.3(AP4B1):c.388_389dup (p.Asp131fs)
|
|
|
|
NM_001253852.3(AP4B1):c.3G>C (p.Met1Ile)
|
rs2101057747
|
|
|
NM_001253852.3(AP4B1):c.402A>T (p.Ser134=)
|
rs34751342
|
|
|
NM_001253852.3(AP4B1):c.405_409del (p.Tyr135_Arg137delinsTer)
|
rs1553259463
|
|
|
NM_001253852.3(AP4B1):c.412A>G (p.Arg138Gly)
|
rs943287870
|
|
|
NM_001253852.3(AP4B1):c.41A>G (p.Lys14Arg)
|
|
|
|
NM_001253852.3(AP4B1):c.426T>C (p.Leu142=)
|
|
|
|
NM_001253852.3(AP4B1):c.444dup (p.Asn149Ter)
|
|
|
|
NM_001253852.3(AP4B1):c.445A>T (p.Asn149Tyr)
|
|
|
|
NM_001253852.3(AP4B1):c.456A>C (p.Gly152=)
|
|
|
|
NM_001253852.3(AP4B1):c.469+17C>A
|
|
|
|
NM_001253852.3(AP4B1):c.470-14G>A
|
|
|
|
NM_001253852.3(AP4B1):c.470-6T>G
|
|
|
|
NM_001253852.3(AP4B1):c.472G>A (p.Gly158Ser)
|
rs2101035348
|
|
|
NM_001253852.3(AP4B1):c.480G>C (p.Leu160=)
|
|
|
|
NM_001253852.3(AP4B1):c.487_488insTAT (p.Glu163delinsValTer)
|
rs2101035173
|
|
|
NM_001253852.3(AP4B1):c.505C>A (p.Arg169Ser)
|
rs753402898
|
|
|
NM_001253852.3(AP4B1):c.512A>G (p.Gln171Arg)
|
|
|
|
NM_001253852.3(AP4B1):c.521T>C (p.Ile174Thr)
|
|
|
|
NM_001253852.3(AP4B1):c.529_531del (p.Val177del)
|
|
|
|
NM_001253852.3(AP4B1):c.52_53del (p.Cys18fs)
|
|
|
|
NM_001253852.3(AP4B1):c.559C>A (p.Leu187Met)
|
|
|
|
NM_001253852.3(AP4B1):c.576_577delinsTA (p.Val193Ile)
|
rs1553259191
|
|
|
NM_001253852.3(AP4B1):c.579_581del (p.Val194del)
|
rs750563520
|
|
|
NM_001253852.3(AP4B1):c.587A>G (p.Asn196Ser)
|
rs1571569612
|
|
|
NM_001253852.3(AP4B1):c.602A>G (p.His201Arg)
|
|
|
|
NM_001253852.3(AP4B1):c.612A>G (p.Leu204=)
|
|
|
|
NM_001253852.3(AP4B1):c.616C>T (p.Arg206Ter)
|
rs762612591
|
|
|
NM_001253852.3(AP4B1):c.617+8T>C
|
rs2101034096
|
|
|
NM_001253852.3(AP4B1):c.618-12T>C
|
|
|
|
NM_001253852.3(AP4B1):c.639G>T (p.Trp213Cys)
|
|
|
|
NM_001253852.3(AP4B1):c.654A>G (p.Val218=)
|
|
|
|
NM_001253852.3(AP4B1):c.664del (p.Leu222fs)
|
rs1571563769
|
|
|
NM_001253852.3(AP4B1):c.678A>C (p.Gln226His)
|
|
|
|
NM_001253852.3(AP4B1):c.67C>A (p.Gln23Lys)
|
rs752491831
|
|
|
NM_001253852.3(AP4B1):c.770A>C (p.Lys257Thr)
|
|
|
|
NM_001253852.3(AP4B1):c.778C>A (p.Leu260Met)
|
|
|
|
NM_001253852.3(AP4B1):c.783C>A (p.Ile261=)
|
rs1352725563
|
|
|
NM_001253852.3(AP4B1):c.810A>G (p.Gln270=)
|
|
|
|
NM_001253852.3(AP4B1):c.820C>T (p.Leu274Phe)
|
|
|
|
NM_001253852.3(AP4B1):c.846A>G (p.Leu282=)
|
|
|
|
NM_001253852.3(AP4B1):c.876_877del (p.Cys293fs)
|
|
|
|
NM_001253852.3(AP4B1):c.87C>T (p.Tyr29=)
|
|
|
|
NM_001253852.3(AP4B1):c.880T>C (p.Phe294Leu)
|
rs541013298
|
|
|
NM_001253852.3(AP4B1):c.901C>T (p.Arg301Cys)
|
|
|
|
NM_001253852.3(AP4B1):c.902G>A (p.Arg301His)
|
|
|
|
NM_001253852.3(AP4B1):c.926del (p.Gly309fs)
|
rs2101025777
|
|
|
NM_001253852.3(AP4B1):c.939C>T (p.Ser313=)
|
|
|
|
NM_001253852.3(AP4B1):c.952T>C (p.Phe318Leu)
|
|
|
|
NM_001253852.3(AP4B1):c.962C>T (p.Ser321Phe)
|
rs1280737712
|
|
|
NM_001253852.3(AP4B1):c.967del (p.Ser323fs)
|
rs745580319
|
|
|
NM_001253852.3(AP4B1):c.985A>T (p.Lys329Ter)
|
rs2101024933
|
|
|
NM_001253852.3(AP4B1):c.992_999del (p.Gln331fs)
|
|
|
|
NM_001254729.1(AP4S1):c.226_294del
|
|
|
|
NM_001271803.2(REEP2):c.100G>A (p.Glu34Lys)
|
|
|
|
NM_001271803.2(REEP2):c.105+13C>T
|
|
|
|
NM_001271803.2(REEP2):c.105+16T>C
|
|
|
|
NM_001271803.2(REEP2):c.105+3G>T
|
rs483352924
|
|
|
NM_001271803.2(REEP2):c.107T>A (p.Val36Glu)
|
rs483352923
|
|
|
NM_001271803.2(REEP2):c.119T>G (p.Met40Arg)
|
rs1763822813
|
|
|
NM_001271803.2(REEP2):c.125G>C (p.Trp42Ser)
|
rs2127022139
|
|
|
NM_001271803.2(REEP2):c.132C>G (p.Val44=)
|
|
|
|
NM_001271803.2(REEP2):c.149C>T (p.Thr50Met)
|
|
|
|
NM_001271803.2(REEP2):c.182+11G>C
|
|
|
|
NM_001271803.2(REEP2):c.182+13G>A
|
|
|
|
NM_001271803.2(REEP2):c.182+18del
|
|
|
|
NM_001271803.2(REEP2):c.183-13C>T
|
|
|
|
NM_001271803.2(REEP2):c.183-15C>T
|
|
|
|
NM_001271803.2(REEP2):c.183-16G>A
|
|
|
|
NM_001271803.2(REEP2):c.1A>G (p.Met1Val)
|
rs2127020121
|
|
|
NM_001271803.2(REEP2):c.215T>A (p.Phe72Tyr)
|
rs483352925
|
|
|
NM_001271803.2(REEP2):c.222A>G (p.Ile74Met)
|
|
|
|
NM_001271803.2(REEP2):c.223T>C (p.Trp75Arg)
|
|
|
|
NM_001271803.2(REEP2):c.235C>T (p.Pro79Ser)
|
|
|
|
NM_001271803.2(REEP2):c.303+12C>G
|
|
|
|
NM_001271803.2(REEP2):c.304-4A>C
|
|
|
|
NM_001271803.2(REEP2):c.312C>T (p.Asp104=)
|
|
|
|
NM_001271803.2(REEP2):c.32+10G>C
|
rs2127020153
|
|
|
NM_001271803.2(REEP2):c.32+14C>T
|
|
|
|
NM_001271803.2(REEP2):c.321C>T (p.Ile107=)
|
|
|
|
NM_001271803.2(REEP2):c.324G>A (p.Thr108=)
|
rs150568316
|
|
|
NM_001271803.2(REEP2):c.33-10G>A
|
rs370528887
|
|
|
NM_001271803.2(REEP2):c.33-10G>C
|
|
|
|
NM_001271803.2(REEP2):c.33-17C>T
|
|
|
|
NM_001271803.2(REEP2):c.33-5C>T
|
|
|
|
NM_001271803.2(REEP2):c.331C>G (p.Arg111Gly)
|
|
|
|
NM_001271803.2(REEP2):c.331C>T (p.Arg111Ter)
|
rs1763893777
|
|
|
NM_001271803.2(REEP2):c.360G>A (p.Arg120=)
|
|
|
|
NM_001271803.2(REEP2):c.393_416dup (p.Ala138_Lys139insAsnAlaAlaValThrAlaAlaAla)
|
|
|
|
NM_001271803.2(REEP2):c.417+10G>A
|
|
|
|
NM_001271803.2(REEP2):c.418-13G>A
|
|
|
|
NM_001271803.2(REEP2):c.418-16G>A
|
|
|
|
NM_001271803.2(REEP2):c.424G>C (p.Gly142Arg)
|
|
|
|
NM_001271803.2(REEP2):c.429G>A (p.Val143=)
|
rs1465264322
|
|
|
NM_001271803.2(REEP2):c.432G>A (p.Leu144=)
|
|
|
|
NM_001271803.2(REEP2):c.447C>A (p.Arg149=)
|
|
|
|
NM_001271803.2(REEP2):c.483C>G (p.Asp161Glu)
|
|
|
|
NM_001271803.2(REEP2):c.484G>A (p.Glu162Lys)
|
|
|
|
NM_001271803.2(REEP2):c.486G>A (p.Glu162=)
|
|
|
|
NM_001271803.2(REEP2):c.496C>T (p.Pro166Ser)
|
|
|
|
NM_001271803.2(REEP2):c.49C>T (p.Leu17=)
|
|
|
|
NM_001271803.2(REEP2):c.501G>T (p.Leu167=)
|
|
|
|
NM_001271803.2(REEP2):c.508C>T (p.Pro170Ser)
|
|
|
|
NM_001271803.2(REEP2):c.513C>A (p.Asp171Glu)
|
|
|
|
NM_001271803.2(REEP2):c.513C>T (p.Asp171=)
|
|
|
|
NM_001271803.2(REEP2):c.514G>A (p.Gly172Ser)
|
|
|
|
NM_001271803.2(REEP2):c.518G>A (p.Arg173His)
|
|
|
|
NM_001271803.2(REEP2):c.555C>T (p.Ile185=)
|
|
|
|
NM_001271803.2(REEP2):c.556G>A (p.Glu186Lys)
|
|
|
|
NM_001271803.2(REEP2):c.565+18G>T
|
|
|
|
NM_001271803.2(REEP2):c.566-11C>T
|
|
|
|
NM_001271803.2(REEP2):c.566-12C>T
|
|
|
|
NM_001271803.2(REEP2):c.574C>T (p.Pro192Ser)
|
|
|
|
NM_001271803.2(REEP2):c.606G>A (p.Pro202=)
|
|
|
|
NM_001271803.2(REEP2):c.606G>C (p.Pro202=)
|
rs139556429
|
|
|
NM_001271803.2(REEP2):c.617G>A (p.Arg206Gln)
|
|
|
|
NM_001271803.2(REEP2):c.683C>T (p.Ala228Val)
|
|
|
|
NM_001271803.2(REEP2):c.684G>A (p.Ala228=)
|
|
|
|
NM_001271803.2(REEP2):c.684G>T (p.Ala228=)
|
|
|
|
NM_001271803.2(REEP2):c.691G>A (p.Ala231Thr)
|
|
|
|
NM_001271803.2(REEP2):c.696+11T>A
|
|
|
|
NM_001271803.2(REEP2):c.696+2T>G
|
rs1580980701
|
|
|
NM_001271803.2(REEP2):c.696+6G>C
|
|
|
|
NM_001271803.2(REEP2):c.696+8C>T
|
|
|
|
NM_001271803.2(REEP2):c.696+9A>C
|
|
|
|
NM_001271803.2(REEP2):c.697-11T>C
|
|
|
|
NM_001271803.2(REEP2):c.722C>A (p.Thr241Asn)
|
|
|
|
NM_001271803.2(REEP2):c.726G>C (p.Arg242=)
|
|
|
|
NM_001271803.2(REEP2):c.739A>G (p.Thr247Ala)
|
|
|
|
NM_001271803.2(REEP2):c.747C>T (p.Gly249=)
|
|
|
|
NM_001271803.2(REEP2):c.753C>T (p.Gly251=)
|
|
|
|
NM_001271803.2(REEP2):c.86del (p.Thr29fs)
|
rs2127021824
|
|
|
NM_001271803.2(REEP2):c.94G>A (p.Val32Met)
|
|
|
|
NM_001278116.2(L1CAM):c.1100G>A (p.Arg367Lys)
|
rs2064751060
|
|
|
NM_001278116.2(L1CAM):c.1108G>A (p.Gly370Arg)
|
rs137852524
|
|
|
NM_001278116.2(L1CAM):c.1222A>G (p.Asn408Asp)
|
rs2064747653
|
|
|
NM_001278116.2(L1CAM):c.1224C>G (p.Asn408Lys)
|
rs994675918
|
|
|
NM_001278116.2(L1CAM):c.1228C>G (p.His410Asp)
|
|
|
|
NM_001278116.2(L1CAM):c.1581A>C (p.Thr527=)
|
rs201131192
|
|
|
NM_001278116.2(L1CAM):c.1672C>T (p.Arg558Ter)
|
rs1557091773
|
|
|
NM_001278116.2(L1CAM):c.1792G>A (p.Asp598Asn)
|
rs137852519
|
|
|
NM_001278116.2(L1CAM):c.1891G>T (p.Val631Leu)
|
|
|
|
NM_001278116.2(L1CAM):c.198-8G>A
|
rs201664558
|
|
|
NM_001278116.2(L1CAM):c.2209-9C>T
|
rs201704250
|
|
|
NM_001278116.2(L1CAM):c.2413G>C (p.Gly805Arg)
|
rs2148495013
|
|
|
NM_001278116.2(L1CAM):c.2434C>G (p.Pro812Ala)
|
|
|
|
NM_001278116.2(L1CAM):c.2516_2517delinsAT (p.Ala839Asp)
|
rs2148494375
|
|
|
NM_001278116.2(L1CAM):c.2575_2576del (p.Arg859fs)
|
|
|
|
NM_001278116.2(L1CAM):c.2596_2597del (p.Ile866fs)
|
rs2148494128
|
|
|
NM_001278116.2(L1CAM):c.2599C>T (p.His867Tyr)
|
rs2064704352
|
|
|
NM_001278116.2(L1CAM):c.2848_2849del (p.Gly950fs)
|
|
|
|
NM_001278116.2(L1CAM):c.2988C>T (p.Thr996=)
|
rs200863731
|
|
|
NM_001278116.2(L1CAM):c.3047-2A>T
|
|
|
|
NM_001278116.2(L1CAM):c.3170_3174del
|
|
|
|
NM_001278116.2(L1CAM):c.3233G>A (p.Trp1078Ter)
|
|
|
|
NM_001278116.2(L1CAM):c.3234G>A (p.Trp1078Ter)
|
rs2148493243
|
|
|
NM_001278116.2(L1CAM):c.3271_3300del (p.Phe1091_Met1100del)
|
|
|
|
NM_001278116.2(L1CAM):c.32_33del (p.Leu11fs)
|
rs2064809181
|
|
|
NM_001278116.2(L1CAM):c.3489_3490del (p.Glu1164fs)
|
rs879253714
|
|
|
NM_001278116.2(L1CAM):c.3531-1G>A
|
rs2148492410
|
|
|
NM_001278116.2(L1CAM):c.3581C>T (p.Ser1194Leu)
|
rs137852522
|
|
|
NM_001278116.2(L1CAM):c.3589G>A (p.Gly1197Arg)
|
|
|
|
NM_001278116.2(L1CAM):c.3665A>G (p.Asp1222Gly)
|
|
|
|
NM_001278116.2(L1CAM):c.3755C>A (p.Pro1252His)
|
rs2148491854
|
|
|
NM_001278116.2(L1CAM):c.421_425dup (p.Val143fs)
|
|
|
|
NM_001278116.2(L1CAM):c.536T>G (p.Ile179Ser)
|
rs137852523
|
|
|
NM_001278116.2(L1CAM):c.604G>A (p.Asp202Asn)
|
rs1603276146
|
|
|
NM_001278116.2(L1CAM):c.630C>A (p.His210Gln)
|
rs28933683
|
|
|
NM_001278116.2(L1CAM):c.644G>A (p.Gly215Asp)
|
rs1175408854
|
|
|
NM_001278116.2(L1CAM):c.649A>G (p.Arg217Gly)
|
rs201204893
|
|
|
NM_001278116.2(L1CAM):c.719C>T (p.Pro240Leu)
|
rs137852526
|
|
|
NM_001278116.2(L1CAM):c.807-6G>A
|
rs886039405
|
|
|
NM_001278116.2(L1CAM):c.985G>A (p.Val329Met)
|
rs2148497835
|
|
|
NM_001278464.2(DNM1L):c.253C>G (p.Pro85Ala)
|
rs762401850
|
|
|
NM_001351169.2(NT5C2):c.1002G>T (p.Thr334=)
|
|
|
|
NM_001351169.2(NT5C2):c.102-4A>G
|
|
|
|
NM_001351169.2(NT5C2):c.1039T>C (p.Leu347=)
|
rs1419555474
|
|
|
NM_001351169.2(NT5C2):c.1041G>A (p.Leu347=)
|
|
|
|
NM_001351169.2(NT5C2):c.1090C>G (p.Gln364Glu)
|
rs1590658486
|
|
|
NM_001351169.2(NT5C2):c.1106T>C (p.Phe369Ser)
|
|
|
|
NM_001351169.2(NT5C2):c.1109del (p.Leu370fs)
|
|
|
|
NM_001351169.2(NT5C2):c.1125C>T (p.Leu375=)
|
|
|
|
NM_001351169.2(NT5C2):c.1149T>G (p.Thr383=)
|
|
|
|
NM_001351169.2(NT5C2):c.1153_1154del (p.Lys385fs)
|
|
|
|
NM_001351169.2(NT5C2):c.1159+16A>G
|
|
|
|
NM_001351169.2(NT5C2):c.1159+2T>G
|
|
|
|
NM_001351169.2(NT5C2):c.115C>T (p.Arg39Ter)
|
|
|
|
NM_001351169.2(NT5C2):c.1160-13A>C
|
|
|
|
NM_001351169.2(NT5C2):c.1160-18C>T
|
|
|
|
NM_001351169.2(NT5C2):c.1160-20T>C
|
|
|
|
NM_001351169.2(NT5C2):c.1160-4C>T
|
|
|
|
NM_001351169.2(NT5C2):c.1172A>G (p.Glu391Gly)
|
rs775006132
|
|
|
NM_001351169.2(NT5C2):c.1211+8T>A
|
|
|
|
NM_001351169.2(NT5C2):c.1212-13_1212-12del
|
|
|
|
NM_001351169.2(NT5C2):c.1212-13_1212-9del
|
|
|
|
NM_001351169.2(NT5C2):c.1212-21_1212-19dup
|
|
|
|
NM_001351169.2(NT5C2):c.1212-8_1212-6dup
|
|
|
|
NM_001351169.2(NT5C2):c.1225del (p.Ser409fs)
|
rs886037656
|
|
|
NM_001351169.2(NT5C2):c.1236G>A (p.Glu412=)
|
|
|
|
NM_001351169.2(NT5C2):c.1259A>G (p.Gln420Arg)
|
rs1294333255
|
|
|
NM_001351169.2(NT5C2):c.1272+1G>C
|
rs1430860231
|
|
|
NM_001351169.2(NT5C2):c.1273-4T>C
|
|
|
|
NM_001351169.2(NT5C2):c.1273-7_1273-4del
|
rs747195167
|
|
|
NM_001351169.2(NT5C2):c.1273-7_1273-4dup
|
rs747195167
|
|
|
NM_001351169.2(NT5C2):c.1273-9_1273-8del
|
|
|
|
NM_001351169.2(NT5C2):c.1289T>C (p.Met430Thr)
|
rs1433755096
|
|
|
NM_001351169.2(NT5C2):c.1323T>C (p.Phe441=)
|
|
|
|
NM_001351169.2(NT5C2):c.1353C>T (p.Ala451=)
|
rs954511632
|
|
|
NM_001351169.2(NT5C2):c.1359A>C (p.Gln453His)
|
rs1048621280
|
|
|
NM_001351169.2(NT5C2):c.1367G>A (p.Arg456His)
|
|
|
|
NM_001351169.2(NT5C2):c.1371T>A (p.Tyr457Ter)
|
rs1419090736
|
|
|
NM_001351169.2(NT5C2):c.1385C>T (p.Ala462Val)
|
rs2134506085
|
|
|
NM_001351169.2(NT5C2):c.139A>G (p.Lys47Glu)
|
rs1565150442
|
|
|
NM_001351169.2(NT5C2):c.1403T>C (p.Leu468Pro)
|
rs2134504868
|
|
|
NM_001351169.2(NT5C2):c.1408T>C (p.Tyr470His)
|
|
|
|
NM_001351169.2(NT5C2):c.1449+13T>A
|
|
|
|
NM_001351169.2(NT5C2):c.1449+18T>A
|
|
|
|
NM_001351169.2(NT5C2):c.1449+2T>C
|
rs753295868
|
|
|
NM_001351169.2(NT5C2):c.1450-16G>C
|
|
|
|
NM_001351169.2(NT5C2):c.1473G>A (p.Glu491=)
|
|
|
|
NM_001351169.2(NT5C2):c.1482C>T (p.His494=)
|
rs932084884
|
|
|
NM_001351169.2(NT5C2):c.1529C>T (p.Thr510Ile)
|
|
|
|
NM_001351169.2(NT5C2):c.1572G>A (p.Leu524=)
|
|
|
|
NM_001351169.2(NT5C2):c.1582A>G (p.Ile528Val)
|
|
|
|
NM_001351169.2(NT5C2):c.1618G>A (p.Ala540Thr)
|
|
|
|
NM_001351169.2(NT5C2):c.1619C>T (p.Ala540Val)
|
|
|
|
NM_001351169.2(NT5C2):c.1624del (p.Gln542fs)
|
rs1385107002
|
|
|
NM_001351169.2(NT5C2):c.1626G>A (p.Gln542=)
|
|
|
|
NM_001351169.2(NT5C2):c.1662A>G (p.Glu554=)
|
rs116702241
|
|
|
NM_001351169.2(NT5C2):c.1662_1664del (p.Glu561del)
|
rs1380291300
|
|
|
NM_001351169.2(NT5C2):c.1662_1667del (p.Glu560_Glu561del)
|
rs1338040632
|
|
|
NM_001351169.2(NT5C2):c.1665GGA[3] (p.Glu560_Glu561del)
|
rs537259520
|
|
|
NM_001351169.2(NT5C2):c.1665GGA[4] (p.Glu561del)
|
rs537259520
|
|
|
NM_001351169.2(NT5C2):c.1665GGA[6] (p.Glu561_Ter562insGlu)
|
rs537259520
|
|
|
NM_001351169.2(NT5C2):c.1665GGA[7] (p.Glu561_Ter562insGluGlu)
|
|
|
|
NM_001351169.2(NT5C2):c.1668G>A (p.Glu556=)
|
|
|
|
NM_001351169.2(NT5C2):c.1677G>A (p.Glu559=)
|
|
|
|
NM_001351169.2(NT5C2):c.1678GAA[3] (p.Glu561_Ter562insGlu)
|
|
|
|
NM_001351169.2(NT5C2):c.175+19T>C
|
|
|
|
NM_001351169.2(NT5C2):c.175+1G>A
|
rs886037658
|
|
|
NM_001351169.2(NT5C2):c.176-10C>T
|
rs753603040
|
|
|
NM_001351169.2(NT5C2):c.176-11T>A
|
rs373347265
|
|
|
NM_001351169.2(NT5C2):c.176-15C>T
|
|
|
|
NM_001351169.2(NT5C2):c.176-19A>G
|
|
|
|
NM_001351169.2(NT5C2):c.176-2A>G
|
|
|
|
NM_001351169.2(NT5C2):c.176-7T>G
|
rs2071371287
|
|
|
NM_001351169.2(NT5C2):c.205G>A (p.Gly69Ser)
|
|
|
|
NM_001351169.2(NT5C2):c.219T>C (p.Thr73=)
|
|
|
|
NM_001351169.2(NT5C2):c.223G>C (p.Glu75Gln)
|
|
|
|
NM_001351169.2(NT5C2):c.226del (p.Arg76fs)
|
|
|
|
NM_001351169.2(NT5C2):c.227G>C (p.Arg76Thr)
|
|
|
|
NM_001351169.2(NT5C2):c.232G>A (p.Val78Ile)
|
rs2071354086
|
|
|
NM_001351169.2(NT5C2):c.251A>G (p.Gln84Arg)
|
|
|
|
NM_001351169.2(NT5C2):c.264C>T (p.Ser88=)
|
|
|
|
NM_001351169.2(NT5C2):c.277T>C (p.Ser93Pro)
|
|
|
|
NM_001351169.2(NT5C2):c.289A>G (p.Thr97Ala)
|
|
|
|
NM_001351169.2(NT5C2):c.293+13G>T
|
|
|
|
NM_001351169.2(NT5C2):c.300T>A (p.Leu100=)
|
rs1590855976
|
|
|
NM_001351169.2(NT5C2):c.312_313del (p.Leu105fs)
|
rs763305896
|
|
|
NM_001351169.2(NT5C2):c.325C>G (p.Leu109Val)
|
|
|
|
NM_001351169.2(NT5C2):c.328T>C (p.Leu110=)
|
|
|
|
NM_001351169.2(NT5C2):c.339T>C (p.Asp113=)
|
|
|
|
NM_001351169.2(NT5C2):c.369T>C (p.His123=)
|
|
|
|
NM_001351169.2(NT5C2):c.390-10T>G
|
rs1388307666
|
|
|
NM_001351169.2(NT5C2):c.390-15A>C
|
|
|
|
NM_001351169.2(NT5C2):c.438T>C (p.Asp146=)
|
|
|
|
NM_001351169.2(NT5C2):c.43A>G (p.Met15Val)
|
|
|
|
NM_001351169.2(NT5C2):c.445A>G (p.Arg149Gly)
|
rs587777174
|
|
|
NM_001351169.2(NT5C2):c.445A>T (p.Arg149Ter)
|
rs587777174
|
|
|
NM_001351169.2(NT5C2):c.481+11T>C
|
|
|
|
NM_001351169.2(NT5C2):c.481+6T>G
|
|
|
|
NM_001351169.2(NT5C2):c.486C>G (p.Thr162=)
|
|
|
|
NM_001351169.2(NT5C2):c.498C>T (p.Ala166=)
|
|
|
|
NM_001351169.2(NT5C2):c.537C>G (p.Thr179=)
|
|
|
|
NM_001351169.2(NT5C2):c.539+15T>C
|
|
|
|
NM_001351169.2(NT5C2):c.539+1G>T
|
rs1457224574
|
|
|
NM_001351169.2(NT5C2):c.539+5_539+8del
|
|
|
|
NM_001351169.2(NT5C2):c.595C>T (p.Gln199Ter)
|
|
|
|
NM_001351169.2(NT5C2):c.616G>C (p.Asp206His)
|
|
|
|
NM_001351169.2(NT5C2):c.618C>T (p.Asp206=)
|
|
|
|
NM_001351169.2(NT5C2):c.629del (p.Tyr210fs)
|
|
|
|
NM_001351169.2(NT5C2):c.634-13dup
|
|
|
|
NM_001351169.2(NT5C2):c.634-16T>C
|
|
|
|
NM_001351169.2(NT5C2):c.634-19T>C
|
|
|
|
NM_001351169.2(NT5C2):c.634-25_634-19dup
|
|
|
|
NM_001351169.2(NT5C2):c.634-6C>T
|
|
|
|
NM_001351169.2(NT5C2):c.675T>G (p.Tyr225Ter)
|
|
|
|
NM_001351169.2(NT5C2):c.677T>C (p.Val226Ala)
|
|
|
|
NM_001351169.2(NT5C2):c.685G>C (p.Asp229His)
|
rs1590754368
|
|
|
NM_001351169.2(NT5C2):c.721G>C (p.Glu241Gln)
|
|
|
|
NM_001351169.2(NT5C2):c.724G>T (p.Val242Leu)
|
|
|
|
NM_001351169.2(NT5C2):c.761A>G (p.Lys254Arg)
|
|
|
|
NM_001351169.2(NT5C2):c.765T>C (p.Tyr255=)
|
|
|
|
NM_001351169.2(NT5C2):c.771+1G>A
|
|
|
|
NM_001351169.2(NT5C2):c.771+573_814-298del
|
|
|
|
NM_001351169.2(NT5C2):c.772-20T>C
|
|
|
|
NM_001351169.2(NT5C2):c.772-5del
|
|
|
|
NM_001351169.2(NT5C2):c.772-9T>A
|
|
|
|
NM_001351169.2(NT5C2):c.781A>T (p.Thr261Ser)
|
|
|
|
NM_001351169.2(NT5C2):c.813+14C>T
|
|
|
|
NM_001351169.2(NT5C2):c.813+6G>A
|
|
|
|
NM_001351169.2(NT5C2):c.814-10C>T
|
|
|
|
NM_001351169.2(NT5C2):c.814-20T>A
|
|
|
|
NM_001351169.2(NT5C2):c.819G>C (p.Gly273=)
|
|
|
|
NM_001351169.2(NT5C2):c.83G>A (p.Arg28His)
|
|
|
|
NM_001351169.2(NT5C2):c.85C>T (p.Arg29Ter)
|
rs587777173
|
|
|
NM_001351169.2(NT5C2):c.861G>A (p.Leu287=)
|
|
|
|
NM_001351169.2(NT5C2):c.871C>T (p.Arg291Trp)
|
|
|
|
NM_001351169.2(NT5C2):c.961C>T (p.Leu321=)
|
|
|
|
NM_001351169.2(NT5C2):c.963A>G (p.Leu321=)
|
|
|
|
NM_001351169.2(NT5C2):c.976G>A (p.Val326Ile)
|
rs913937142
|
|
|
NM_001351169.2(NT5C2):c.982T>C (p.Ser328Pro)
|
rs1564921342
|
|
|
NM_001351169.2(NT5C2):c.988+5G>C
|
|
|
|
NM_001351169.2(NT5C2):c.989-13T>G
|
|
|
|
NM_001351169.2(NT5C2):c.989-1G>T
|
rs886037657
|
|
|
NM_001364857.2(ADGRB2):c.4150C>T (p.Arg1384Ter)
|
|
|
|
NM_001364905.1(LRBA):c.3826-13A>G
|
rs1750538092
|
|
|
NM_001368809.2(AMPD2):c.-119G>C
|
|
|
|
NM_001368809.2(AMPD2):c.-133C>T
|
|
|
|
NM_001368809.2(AMPD2):c.-43_-24dup
|
|
|
|
NM_001368809.2(AMPD2):c.-45C>T
|
|
|
|
NM_001368809.2(AMPD2):c.-46C>G
|
rs1650210949
|
|
|
NM_001368809.2(AMPD2):c.-95T>C
|
|
|
|
NM_001368809.2(AMPD2):c.1005T>C (p.His335=)
|
|
|
|
NM_001368809.2(AMPD2):c.1035C>T (p.Ala345=)
|
|
|
|
NM_001368809.2(AMPD2):c.104G>T (p.Gly35Val)
|
rs2101153100
|
|
|
NM_001368809.2(AMPD2):c.1057C>T (p.Arg353Ter)
|
|
|
|
NM_001368809.2(AMPD2):c.1072A>G (p.Ile358Val)
|
rs1195759768
|
|
|
NM_001368809.2(AMPD2):c.1080+16G>A
|
|
|
|
NM_001368809.2(AMPD2):c.1080+18G>A
|
|
|
|
NM_001368809.2(AMPD2):c.1080+3G>A
|
|
|
|
NM_001368809.2(AMPD2):c.1081-18T>C
|
|
|
|
NM_001368809.2(AMPD2):c.1110C>T (p.Cys370=)
|
|
|
|
NM_001368809.2(AMPD2):c.1146G>A (p.Arg382=)
|
|
|
|
NM_001368809.2(AMPD2):c.1158G>A (p.Arg386=)
|
|
|
|
NM_001368809.2(AMPD2):c.1173C>T (p.Ile391=)
|
|
|
|
NM_001368809.2(AMPD2):c.1175T>C (p.Val392Ala)
|
|
|
|
NM_001368809.2(AMPD2):c.1179C>T (p.His393=)
|
|
|
|
NM_001368809.2(AMPD2):c.1197A>G (p.Glu399=)
|
|
|
|
NM_001368809.2(AMPD2):c.120G>A (p.Pro40=)
|
|
|
|
NM_001368809.2(AMPD2):c.1246C>T (p.Leu416=)
|
|
|
|
NM_001368809.2(AMPD2):c.1252G>A (p.Val418Met)
|
rs2101165160
|
|
|
NM_001368809.2(AMPD2):c.1275+15C>T
|
|
|
|
NM_001368809.2(AMPD2):c.1275G>A (p.Ala425=)
|
|
|
|
NM_001368809.2(AMPD2):c.1276-13C>T
|
|
|
|
NM_001368809.2(AMPD2):c.1276-18C>G
|
|
|
|
NM_001368809.2(AMPD2):c.1286C>G (p.Thr429Ser)
|
rs2101165790
|
|
|
NM_001368809.2(AMPD2):c.1329T>C (p.Ile443=)
|
|
|
|
NM_001368809.2(AMPD2):c.1338C>T (p.Ser446=)
|
|
|
|
NM_001368809.2(AMPD2):c.135A>G (p.Arg45=)
|
|
|
|
NM_001368809.2(AMPD2):c.1365G>A (p.Thr455=)
|
|
|
|
NM_001368809.2(AMPD2):c.1383G>A (p.Gly461=)
|
|
|
|
NM_001368809.2(AMPD2):c.1404C>T (p.Ile468=)
|
|
|
|
NM_001368809.2(AMPD2):c.1408-3_1418del
|
|
|
|
NM_001368809.2(AMPD2):c.1422C>T (p.Asp474=)
|
|
|
|
NM_001368809.2(AMPD2):c.1446T>A (p.Asn482Lys)
|
rs756027056
|
|
|
NM_001368809.2(AMPD2):c.144G>A (p.Pro48=)
|
|
|
|
NM_001368809.2(AMPD2):c.1457G>A (p.Arg486Gln)
|
rs192669225
|
|
|
NM_001368809.2(AMPD2):c.145G>T (p.Gly49Cys)
|
rs1200977295
|
|
|
NM_001368809.2(AMPD2):c.1470C>T (p.Tyr490=)
|
|
|
|
NM_001368809.2(AMPD2):c.1471G>A (p.Gly491Arg)
|
|
|
|
NM_001368809.2(AMPD2):c.1474C>T (p.Arg492Cys)
|
|
|
|
NM_001368809.2(AMPD2):c.1478C>T (p.Ser493Leu)
|
|
|
|
NM_001368809.2(AMPD2):c.1503G>A (p.Ala501=)
|
|
|
|
NM_001368809.2(AMPD2):c.1505G>A (p.Arg502His)
|
|
|
|
NM_001368809.2(AMPD2):c.150C>T (p.Pro50=)
|
|
|
|
NM_001368809.2(AMPD2):c.1512C>T (p.Ala504=)
|
rs769002205
|
|
|
NM_001368809.2(AMPD2):c.1513G>A (p.Val505Ile)
|
|
|
|
NM_001368809.2(AMPD2):c.1519C>A (p.His507Asn)
|
rs374652371
|
|
|
NM_001368809.2(AMPD2):c.151G>A (p.Ala51Thr)
|
|
|
|
NM_001368809.2(AMPD2):c.1522C>G (p.Arg508Gly)
|
rs146798795
|
|
|
NM_001368809.2(AMPD2):c.1525G>A (p.Val509Met)
|
|
|
|
NM_001368809.2(AMPD2):c.152C>T (p.Ala51Val)
|
|
|
|
NM_001368809.2(AMPD2):c.1532C>T (p.Ser511Phe)
|
rs2101167424
|
|
|
NM_001368809.2(AMPD2):c.1534C>T (p.Pro512Ser)
|
|
|
|
NM_001368809.2(AMPD2):c.1571+19G>A
|
|
|
|
NM_001368809.2(AMPD2):c.1572-13G>T
|
rs1370260788
|
|
|
NM_001368809.2(AMPD2):c.157del (p.Cys53fs)
|
rs587777769
|
|
|
NM_001368809.2(AMPD2):c.1611G>A (p.Gln537=)
|
|
|
|
NM_001368809.2(AMPD2):c.1637C>T (p.Pro546Leu)
|
|
|
|
NM_001368809.2(AMPD2):c.1698+13C>T
|
|
|
|
NM_001368809.2(AMPD2):c.1698+1G>A
|
rs1650988132
|
|
|
NM_001368809.2(AMPD2):c.1699-5A>G
|
|
|
|
NM_001368809.2(AMPD2):c.1699-9C>A
|
|
|
|
NM_001368809.2(AMPD2):c.1704T>C (p.Asp568=)
|
|
|
|
NM_001368809.2(AMPD2):c.1725T>C (p.Asp575=)
|
rs2101169930
|
|
|
NM_001368809.2(AMPD2):c.1738G>A (p.Glu580Lys)
|
rs867766720
|
|
|
NM_001368809.2(AMPD2):c.1779G>C (p.Ala593=)
|
rs767362652
|
|
|
NM_001368809.2(AMPD2):c.1782G>A (p.Trp594Ter)
|
|
|
|
NM_001368809.2(AMPD2):c.180C>T (p.Asp60=)
|
|
|
|
NM_001368809.2(AMPD2):c.1825A>T (p.Thr609Ser)
|
|
|
|
NM_001368809.2(AMPD2):c.185G>A (p.Arg62His)
|
|
|
|
NM_001368809.2(AMPD2):c.1861A>G (p.Arg621Gly)
|
|
|
|
NM_001368809.2(AMPD2):c.1862+10C>G
|
|
|
|
NM_001368809.2(AMPD2):c.1863-3dup
|
|
|
|
NM_001368809.2(AMPD2):c.1863-7C>G
|
rs563578390
|
|
|
NM_001368809.2(AMPD2):c.1863-7C>T
|
|
|
|
NM_001368809.2(AMPD2):c.1881G>A (p.Thr627=)
|
|
|
|
NM_001368809.2(AMPD2):c.189G>C (p.Thr63=)
|
rs745929697
|
|
|
NM_001368809.2(AMPD2):c.190T>G (p.Ser64Ala)
|
|
|
|
NM_001368809.2(AMPD2):c.1971C>T (p.Leu657=)
|
|
|
|
NM_001368809.2(AMPD2):c.1979G>T (p.Arg660Leu)
|
rs955380053
|
|
|
NM_001368809.2(AMPD2):c.1983+15C>T
|
|
|
|
NM_001368809.2(AMPD2):c.1984-2A>G
|
|
|
|
NM_001368809.2(AMPD2):c.2002C>T (p.Leu668=)
|
rs780963535
|
|
|
NM_001368809.2(AMPD2):c.2009A>G (p.Tyr670Cys)
|
rs1651099625
|
|
|
NM_001368809.2(AMPD2):c.2013G>A (p.Leu671=)
|
|
|
|
NM_001368809.2(AMPD2):c.2017C>G (p.Gln673Glu)
|
|
|
|
NM_001368809.2(AMPD2):c.2064C>T (p.Leu688=)
|
|
|
|
NM_001368809.2(AMPD2):c.2089G>C (p.Glu697Gln)
|
|
|
|
NM_001368809.2(AMPD2):c.2101C>G (p.Arg701Gly)
|
rs1264297138
|
|
|
NM_001368809.2(AMPD2):c.2127T>C (p.Thr709=)
|
|
|
|
NM_001368809.2(AMPD2):c.2151C>T (p.Phe717=)
|
|
|
|
NM_001368809.2(AMPD2):c.2154C>A (p.Thr718=)
|
|
|
|
NM_001368809.2(AMPD2):c.2157+14_2157+15delinsCC
|
|
|
|
NM_001368809.2(AMPD2):c.2157+16G>T
|
|
|
|
NM_001368809.2(AMPD2):c.2157G>A (p.Lys719=)
|
rs2101174469
|
|
|
NM_001368809.2(AMPD2):c.2158-14C>T
|
|
|
|
NM_001368809.2(AMPD2):c.2158-19G>A
|
|
|
|
NM_001368809.2(AMPD2):c.2158-6G>C
|
|
|
|
NM_001368809.2(AMPD2):c.2158G>T (p.Glu720Ter)
|
|
|
|
NM_001368809.2(AMPD2):c.2162C>T (p.Pro721Leu)
|
rs1651160667
|
|
|
NM_001368809.2(AMPD2):c.2173G>A (p.Glu725Lys)
|
|
|
|
NM_001368809.2(AMPD2):c.2176T>G (p.Tyr726Asp)
|
|
|
|
NM_001368809.2(AMPD2):c.2178C>T (p.Tyr726=)
|
|
|
|
NM_001368809.2(AMPD2):c.222+12C>T
|
|
|
|
NM_001368809.2(AMPD2):c.222+15C>T
|
|
|
|
NM_001368809.2(AMPD2):c.222+20G>T
|
|
|
|
NM_001368809.2(AMPD2):c.2228T>C (p.Leu743Pro)
|
rs752607637
|
|
|
NM_001368809.2(AMPD2):c.2233C>G (p.Arg745Gly)
|
rs762954605
|
|
|
NM_001368809.2(AMPD2):c.2234G>A (p.Arg745His)
|
|
|
|
NM_001368809.2(AMPD2):c.2254G>T (p.Gly752Cys)
|
|
|
|
NM_001368809.2(AMPD2):c.2268+11G>A
|
|
|
|
NM_001368809.2(AMPD2):c.2268+11G>C
|
|
|
|
NM_001368809.2(AMPD2):c.2268+18T>C
|
|
|
|
NM_001368809.2(AMPD2):c.2269-13C>T
|
|
|
|
NM_001368809.2(AMPD2):c.2329C>G (p.Arg777Gly)
|
rs1651209949
|
|
|
NM_001368809.2(AMPD2):c.2356G>A (p.Val786Met)
|
|
|
|
NM_001368809.2(AMPD2):c.2360G>A (p.Gly787Asp)
|
|
|
|
NM_001368809.2(AMPD2):c.237C>G (p.Arg79=)
|
rs1650609306
|
|
|
NM_001368809.2(AMPD2):c.2388G>T (p.Glu796Asp)
|
rs202071045
|
|
|
NM_001368809.2(AMPD2):c.239_262del (p.Ser80_Ser88delinsCys)
|
rs2101154665
|
|
|
NM_001368809.2(AMPD2):c.2403G>A (p.Thr801=)
|
|
|
|
NM_001368809.2(AMPD2):c.2448G>A (p.Ala816=)
|
|
|
|
NM_001368809.2(AMPD2):c.2475A>G (p.Gln825=)
|
rs553448801
|
|
|
NM_001368809.2(AMPD2):c.252C>T (p.Ser84=)
|
|
|
|
NM_001368809.2(AMPD2):c.265_277del (p.Ala89fs)
|
|
|
|
NM_001368809.2(AMPD2):c.269del (p.Pro90fs)
|
|
|
|
NM_001368809.2(AMPD2):c.276G>A (p.Glu92=)
|
rs2101154925
|
|
|
NM_001368809.2(AMPD2):c.279C>T (p.Phe93=)
|
rs2101154929
|
|
|
NM_001368809.2(AMPD2):c.282C>T (p.Pro94=)
|
|
|
|
NM_001368809.2(AMPD2):c.294C>T (p.Pro98=)
|
|
|
|
NM_001368809.2(AMPD2):c.302del (p.Gln101fs)
|
|
|
|
NM_001368809.2(AMPD2):c.314G>T (p.Arg105Leu)
|
rs1650618181
|
|
|
NM_001368809.2(AMPD2):c.316C>T (p.Arg106Trp)
|
|
|
|
NM_001368809.2(AMPD2):c.319C>T (p.Gln107Ter)
|
|
|
|
NM_001368809.2(AMPD2):c.321G>A (p.Gln107=)
|
|
|
|
NM_001368809.2(AMPD2):c.330G>A (p.Glu110=)
|
|
|
|
NM_001368809.2(AMPD2):c.353+3G>A
|
|
|
|
NM_001368809.2(AMPD2):c.353+8C>A
|
|
|
|
NM_001368809.2(AMPD2):c.353+8C>T
|
rs376994583
|
|
|
NM_001368809.2(AMPD2):c.354-16C>T
|
|
|
|
NM_001368809.2(AMPD2):c.354-20C>T
|
|
|
|
NM_001368809.2(AMPD2):c.376C>T (p.Arg126Trp)
|
|
|
|
NM_001368809.2(AMPD2):c.41A>T (p.Lys14Ile)
|
|
|
|
NM_001368809.2(AMPD2):c.422A>G (p.Gln141Arg)
|
rs2101156801
|
|
|
NM_001368809.2(AMPD2):c.423-10C>T
|
rs1010263262
|
|
|
NM_001368809.2(AMPD2):c.423-6C>G
|
|
|
|
NM_001368809.2(AMPD2):c.42del (p.Lys14fs)
|
|
|
|
NM_001368809.2(AMPD2):c.439G>C (p.Gly147Arg)
|
|
|
|
NM_001368809.2(AMPD2):c.456C>T (p.Asp152=)
|
|
|
|
NM_001368809.2(AMPD2):c.457C>T (p.Arg153Trp)
|
rs373334637
|
|
|
NM_001368809.2(AMPD2):c.467G>A (p.Arg156Gln)
|
|
|
|
NM_001368809.2(AMPD2):c.474T>C (p.Arg158=)
|
rs2101157468
|
|
|
NM_001368809.2(AMPD2):c.487C>T (p.Arg163Trp)
|
|
|
|
NM_001368809.2(AMPD2):c.488G>C (p.Arg163Pro)
|
rs138175138
|
|
|
NM_001368809.2(AMPD2):c.50T>C (p.Phe17Ser)
|
|
|
|
NM_001368809.2(AMPD2):c.531+12G>A
|
rs765227765
|
|
|
NM_001368809.2(AMPD2):c.532-19C>T
|
|
|
|
NM_001368809.2(AMPD2):c.574C>A (p.Arg192=)
|
|
|
|
NM_001368809.2(AMPD2):c.640C>T (p.Arg214Cys)
|
|
|
|
NM_001368809.2(AMPD2):c.646del (p.Leu216fs)
|
|
|
|
NM_001368809.2(AMPD2):c.66C>T (p.Ser22=)
|
|
|
|
NM_001368809.2(AMPD2):c.679C>T (p.Arg227Trp)
|
|
|
|
NM_001368809.2(AMPD2):c.700G>A (p.Asp234Asn)
|
|
|
|
NM_001368809.2(AMPD2):c.705C>T (p.Thr235=)
|
|
|
|
NM_001368809.2(AMPD2):c.719-13C>T
|
|
|
|
NM_001368809.2(AMPD2):c.719-8C>T
|
|
|
|
NM_001368809.2(AMPD2):c.73G>T (p.Ala25Ser)
|
rs943933650
|
|
|
NM_001368809.2(AMPD2):c.741G>A (p.Ala247=)
|
|
|
|
NM_001368809.2(AMPD2):c.741G>T (p.Ala247=)
|
|
|
|
NM_001368809.2(AMPD2):c.755C>T (p.Pro252Leu)
|
|
|
|
NM_001368809.2(AMPD2):c.756G>A (p.Pro252=)
|
|
|
|
NM_001368809.2(AMPD2):c.808C>T (p.Arg270Cys)
|
|
|
|
NM_001368809.2(AMPD2):c.809G>A (p.Arg270His)
|
rs749468757
|
|
|
NM_001368809.2(AMPD2):c.81T>C (p.Thr27=)
|
|
|
|
NM_001368809.2(AMPD2):c.823G>A (p.Val275Met)
|
|
|
|
NM_001368809.2(AMPD2):c.831C>T (p.His277=)
|
|
|
|
NM_001368809.2(AMPD2):c.832G>C (p.Val278Leu)
|
rs770528852
|
|
|
NM_001368809.2(AMPD2):c.842G>A (p.Arg281His)
|
|
|
|
NM_001368809.2(AMPD2):c.852CGA[1] (p.Asp285del)
|
rs1650781134
|
|
|
NM_001368809.2(AMPD2):c.853G>A (p.Asp285Asn)
|
|
|
|
NM_001368809.2(AMPD2):c.861-2A>G
|
|
|
|
NM_001368809.2(AMPD2):c.861-3C>T
|
|
|
|
NM_001368809.2(AMPD2):c.91+1G>T
|
|
|
|
NM_001368809.2(AMPD2):c.91+9G>A
|
rs750556724
|
|
|
NM_001368809.2(AMPD2):c.913G>A (p.Val305Ile)
|
|
|
|
NM_001368809.2(AMPD2):c.92-15T>C
|
|
|
|
NM_001368809.2(AMPD2):c.948C>T (p.Pro316=)
|
|
|
|
NM_001368809.2(AMPD2):c.950+12G>C
|
|
|
|
NM_001368809.2(AMPD2):c.950+19C>A
|
|
|
|
NM_001368809.2(AMPD2):c.951-11_951-9del
|
rs2101163203
|
|
|
NM_001368809.2(AMPD2):c.951-7T>C
|
|
|
|
NM_001368809.2(AMPD2):c.971G>T (p.Arg324Leu)
|
rs746332433
|
|
|
NM_001371279.1(REEP1):c.*1119G>A
|
rs1674088022
|
|
|
NM_001371279.1(REEP1):c.*124C>G
|
rs1674140828
|
|
|
NM_001371279.1(REEP1):c.*1519T>C
|
rs886056406
|
|
|
NM_001371279.1(REEP1):c.*1526A>T
|
rs896373341
|
|
|
NM_001371279.1(REEP1):c.*1533G>C
|
rs764271301
|
|
|
NM_001371279.1(REEP1):c.*1568T>A
|
rs1674055590
|
|
|
NM_001371279.1(REEP1):c.*1702C>T
|
rs993162388
|
|
|
NM_001371279.1(REEP1):c.*1853A>T
|
rs886056405
|
|
|
NM_001371279.1(REEP1):c.*1987G>A
|
rs144937908
|
|
|
NM_001371279.1(REEP1):c.*2189C>A
|
rs558708657
|
|
|
NM_001371279.1(REEP1):c.*2357A>G
|
rs1674009181
|
|
|
NM_001371279.1(REEP1):c.*2558A>G
|
rs886056397
|
|
|
NM_001371279.1(REEP1):c.*2850T>G
|
rs1673985889
|
|
|
NM_001371279.1(REEP1):c.*2896C>T
|
rs1673982491
|
|
|
NM_001371279.1(REEP1):c.*509T>C
|
rs145058780
|
|
|
NM_001371279.1(REEP1):c.*658C>G
|
rs941801751
|
|
|
NM_001371279.1(REEP1):c.*787G>C
|
rs1674107152
|
|
|
NM_001371279.1(REEP1):c.*864T>C
|
rs1293776179
|
|
|
NM_001371279.1(REEP1):c.-4C>A
|
rs1368031824
|
|
|
NM_001371279.1(REEP1):c.-73G>T
|
rs1312748911
|
|
|
NM_001371279.1(REEP1):c.103T>A (p.Tyr35Asn)
|
rs1574077431
|
|
|
NM_001371279.1(REEP1):c.104A>C (p.Tyr35Ser)
|
|
|
|
NM_001371279.1(REEP1):c.104_105del (p.Tyr35fs)
|
|
|
|
NM_001371279.1(REEP1):c.105+471_105+472insA
|
rs2104392639
|
|
|
NM_001371279.1(REEP1):c.105+6T>C
|
rs1678132370
|
|
|
NM_001371279.1(REEP1):c.106-11T>C
|
|
|
|
NM_001371279.1(REEP1):c.106-12C>G
|
|
|
|
NM_001371279.1(REEP1):c.106-17G>T
|
|
|
|
NM_001371279.1(REEP1):c.106-1G>A
|
|
|
|
NM_001371279.1(REEP1):c.106-2A>T
|
rs1677010564
|
|
|
NM_001371279.1(REEP1):c.106-4A>G
|
rs1677011138
|
|
|
NM_001371279.1(REEP1):c.106G>A (p.Val36Ile)
|
|
|
|
NM_001371279.1(REEP1):c.113G>A (p.Trp38Ter)
|
rs1060503494
|
|
|
NM_001371279.1(REEP1):c.116T>G (p.Met39Arg)
|
rs1574052888
|
|
|
NM_001371279.1(REEP1):c.122A>G (p.Tyr41Cys)
|
|
|
|
NM_001371279.1(REEP1):c.123C>G (p.Tyr41Ter)
|
|
|
|
NM_001371279.1(REEP1):c.124T>C (p.Trp42Arg)
|
|
|
|
NM_001371279.1(REEP1):c.128_138dup (p.Phe48fs)
|
|
|
|
NM_001371279.1(REEP1):c.131T>C (p.Ile44Thr)
|
|
|
|
NM_001371279.1(REEP1):c.137C>T (p.Ala46Val)
|
|
|
|
NM_001371279.1(REEP1):c.148del (p.Thr50fs)
|
|
|
|
NM_001371279.1(REEP1):c.149C>T (p.Thr50Ile)
|
rs886056410
|
|
|
NM_001371279.1(REEP1):c.15C>A (p.Ile5=)
|
|
|
|
NM_001371279.1(REEP1):c.164C>A (p.Thr55Lys)
|
rs1677004351
|
|
|
NM_001371279.1(REEP1):c.166G>A (p.Asp56Asn)
|
rs1060503493
|
|
|
NM_001371279.1(REEP1):c.166G>C (p.Asp56His)
|
rs1060503493
|
|
|
NM_001371279.1(REEP1):c.16A>C (p.Ile6Leu)
|
rs1681106072
|
|
|
NM_001371279.1(REEP1):c.176T>A (p.Leu59His)
|
|
|
|
NM_001371279.1(REEP1):c.176T>C (p.Leu59Pro)
|
rs1553462741
|
|
|
NM_001371279.1(REEP1):c.179G>A (p.Cys60Tyr)
|
rs2104302794
|
|
|
NM_001371279.1(REEP1):c.182+16G>A
|
|
|
|
NM_001371279.1(REEP1):c.182+17T>C
|
|
|
|
NM_001371279.1(REEP1):c.182+4A>G
|
|
|
|
NM_001371279.1(REEP1):c.182+5G>A
|
rs766166355
|
|
|
NM_001371279.1(REEP1):c.182+5G>C
|
rs766166355
|
|
|
NM_001371279.1(REEP1):c.182+5G>T
|
rs766166355
|
|
|
NM_001371279.1(REEP1):c.182G>A (p.Trp61Ter)
|
rs1558898568
|
|
|
NM_001371279.1(REEP1):c.183-12C>T
|
|
|
|
NM_001371279.1(REEP1):c.183-13TC[6]
|
rs1558891883
|
|
|
NM_001371279.1(REEP1):c.183-20G>A
|
|
|
|
NM_001371279.1(REEP1):c.183-2A>G
|
rs387906264
|
|
|
NM_001371279.1(REEP1):c.191T>C (p.Phe64Ser)
|
|
|
|
NM_001371279.1(REEP1):c.193T>C (p.Tyr65His)
|
rs2104245077
|
|
|
NM_001371279.1(REEP1):c.194A>G (p.Tyr65Cys)
|
rs1553461508
|
|
|
NM_001371279.1(REEP1):c.195T>A (p.Tyr65Ter)
|
rs1676463508
|
|
|
NM_001371279.1(REEP1):c.200A>T (p.Glu67Val)
|
rs1553461506
|
|
|
NM_001371279.1(REEP1):c.203T>C (p.Leu68Pro)
|
rs2104244891
|
|
|
NM_001371279.1(REEP1):c.208dup (p.Ile70fs)
|
|
|
|
NM_001371279.1(REEP1):c.209T>G (p.Ile70Arg)
|
rs1676462330
|
|
|
NM_001371279.1(REEP1):c.211G>A (p.Ala71Thr)
|
|
|
|
NM_001371279.1(REEP1):c.220G>T (p.Ala74Ser)
|
|
|
|
NM_001371279.1(REEP1):c.224G>A (p.Trp75Ter)
|
rs2104244665
|
|
|
NM_001371279.1(REEP1):c.228G>T (p.Leu76=)
|
|
|
|
NM_001371279.1(REEP1):c.229C>T (p.Leu77=)
|
|
|
|
NM_001371279.1(REEP1):c.230T>C (p.Leu77Pro)
|
|
|
|
NM_001371279.1(REEP1):c.244A>G (p.Lys82Glu)
|
rs934249498
|
|
|
NM_001371279.1(REEP1):c.248G>T (p.Gly83Val)
|
|
|
|
NM_001371279.1(REEP1):c.249del (p.Ser84fs)
|
rs2104244515
|
|
|
NM_001371279.1(REEP1):c.250_253delinsCTCT (p.Ser84_Ser85delinsLeuCys)
|
rs1676459756
|
|
|
NM_001371279.1(REEP1):c.250_253dup (p.Ser85fs)
|
|
|
|
NM_001371279.1(REEP1):c.255_266del (p.Ser85_Tyr88del)
|
rs1676458313
|
|
|
NM_001371279.1(REEP1):c.258C>T (p.Leu86=)
|
|
|
|
NM_001371279.1(REEP1):c.260T>G (p.Leu87Arg)
|
rs2104244362
|
|
|
NM_001371279.1(REEP1):c.269A>G (p.Lys90Arg)
|
|
|
|
NM_001371279.1(REEP1):c.26T>C (p.Leu9Pro)
|
|
|
|
NM_001371279.1(REEP1):c.282C>T (p.Pro94=)
|
rs2104244187
|
|
|
NM_001371279.1(REEP1):c.287T>C (p.Leu96Pro)
|
rs1553461473
|
|
|
NM_001371279.1(REEP1):c.288A>G (p.Leu96=)
|
|
|
|
NM_001371279.1(REEP1):c.289T>C (p.Ser97Pro)
|
rs1558891694
|
|
|
NM_001371279.1(REEP1):c.289T>G (p.Ser97Ala)
|
rs1558891694
|
|
|
NM_001371279.1(REEP1):c.298G>A (p.Glu100Lys)
|
rs2104243924
|
|
|
NM_001371279.1(REEP1):c.299_303del (p.Glu100fs)
|
rs2104243887
|
|
|
NM_001371279.1(REEP1):c.2T>C (p.Met1Thr)
|
rs1681107508
|
|
|
NM_001371279.1(REEP1):c.303+13G>T
|
|
|
|
NM_001371279.1(REEP1):c.303+1G>A
|
|
|
|
NM_001371279.1(REEP1):c.303+2T>C
|
rs1676453652
|
|
|
NM_001371279.1(REEP1):c.303+6A>G
|
rs755901202
|
|
|
NM_001371279.1(REEP1):c.303+7T>C
|
rs1574039442
|
|
|
NM_001371279.1(REEP1):c.303G>A (p.Lys101=)
|
|
|
|
NM_001371279.1(REEP1):c.304-1G>C
|
|
|
|
NM_001371279.1(REEP1):c.304-3C>G
|
rs1676314210
|
|
|
NM_001371279.1(REEP1):c.304-5G>T
|
rs2104225135
|
|
|
NM_001371279.1(REEP1):c.304-9C>T
|
rs771485330
|
|
|
NM_001371279.1(REEP1):c.304G>A (p.Glu102Lys)
|
|
|
|
NM_001371279.1(REEP1):c.309C>A (p.Ile103=)
|
rs551468138
|
|
|
NM_001371279.1(REEP1):c.309C>T (p.Ile103=)
|
rs551468138
|
|
|
NM_001371279.1(REEP1):c.32+14T>A
|
rs1057522806
|
|
|
NM_001371279.1(REEP1):c.32+16C>T
|
|
|
|
NM_001371279.1(REEP1):c.32+17C>A
|
|
|
|
NM_001371279.1(REEP1):c.32+17C>T
|
rs942655720
|
|
|
NM_001371279.1(REEP1):c.32+19del
|
|
|
|
NM_001371279.1(REEP1):c.32+1G>T
|
rs1681105619
|
|
|
NM_001371279.1(REEP1):c.32+2T>C
|
|
|
|
NM_001371279.1(REEP1):c.32+4A>G
|
|
|
|
NM_001371279.1(REEP1):c.32+5G>A
|
rs1681105460
|
|
|
NM_001371279.1(REEP1):c.32+6del
|
|
|
|
NM_001371279.1(REEP1):c.32+7G>T
|
|
|
|
NM_001371279.1(REEP1):c.32+9675A>G
|
|
|
|
NM_001371279.1(REEP1):c.322G>A (p.Val108Ile)
|
rs1474498257
|
|
|
NM_001371279.1(REEP1):c.329C>A (p.Ala110Glu)
|
rs1182977563
|
|
|
NM_001371279.1(REEP1):c.33-15C>G
|
|
|
|
NM_001371279.1(REEP1):c.33-16T>A
|
rs2104395246
|
|
|
NM_001371279.1(REEP1):c.33-17G>A
|
|
|
|
NM_001371279.1(REEP1):c.33-18T>C
|
|
|
|
NM_001371279.1(REEP1):c.33-2A>G
|
rs1574077569
|
|
|
NM_001371279.1(REEP1):c.33-8C>A
|
|
|
|
NM_001371279.1(REEP1):c.337C>T (p.Arg113Ter)
|
rs121918263
|
|
|
NM_001371279.1(REEP1):c.340A>G (p.Ser114Gly)
|
|
|
|
NM_001371279.1(REEP1):c.340_347del (p.Ser114fs)
|
rs1676310949
|
|
|
NM_001371279.1(REEP1):c.341G>A (p.Ser114Asn)
|
rs1676311757
|
|
|
NM_001371279.1(REEP1):c.344dup (p.Tyr115Ter)
|
rs2104224809
|
|
|
NM_001371279.1(REEP1):c.345C>A (p.Tyr115Ter)
|
rs138656911
|
|
|
NM_001371279.1(REEP1):c.345C>G (p.Tyr115Ter)
|
rs138656911
|
|
|
NM_001371279.1(REEP1):c.346G>A (p.Asp116Asn)
|
|
|
|
NM_001371279.1(REEP1):c.353T>G (p.Leu118Arg)
|
rs1553461156
|
|
|
NM_001371279.1(REEP1):c.355G>T (p.Val119Leu)
|
rs1676309660
|
|
|
NM_001371279.1(REEP1):c.361T>C (p.Phe121Leu)
|
|
|
|
NM_001371279.1(REEP1):c.373G>A (p.Gly125Ser)
|
rs1375850288
|
|
|
NM_001371279.1(REEP1):c.377T>A (p.Leu126Ter)
|
|
|
|
NM_001371279.1(REEP1):c.379A>G (p.Asn127Asp)
|
rs1676306574
|
|
|
NM_001371279.1(REEP1):c.379_389dup (p.Ala132fs)
|
rs2104223760
|
|
|
NM_001371279.1(REEP1):c.387C>T (p.Ala129=)
|
|
|
|
NM_001371279.1(REEP1):c.392C>T (p.Thr131Ile)
|
rs1553461131
|
|
|
NM_001371279.1(REEP1):c.395C>T (p.Ala132Val)
|
|
|
|
NM_001371279.1(REEP1):c.411T>G (p.Ala137=)
|
|
|
|
NM_001371279.1(REEP1):c.415A>T (p.Lys139Ter)
|
rs786204081
|
|
|
NM_001371279.1(REEP1):c.417+15G>C
|
rs755153738
|
|
|
NM_001371279.1(REEP1):c.417+1G>A
|
rs2104223296
|
|
|
NM_001371279.1(REEP1):c.417+1G>C
|
rs2104223296
|
|
|
NM_001371279.1(REEP1):c.417+1del
|
|
|
|
NM_001371279.1(REEP1):c.417+9C>A
|
|
|
|
NM_001371279.1(REEP1):c.417G>C (p.Lys139Asn)
|
|
|
|
NM_001371279.1(REEP1):c.418-15C>T
|
|
|
|
NM_001371279.1(REEP1):c.418-17T>C
|
|
|
|
NM_001371279.1(REEP1):c.418-1G>A
|
rs2104054912
|
|
|
NM_001371279.1(REEP1):c.418-2A>C
|
|
|
|
NM_001371279.1(REEP1):c.418-3C>T
|
rs762291002
|
|
|
NM_001371279.1(REEP1):c.418-597_595+409del
|
|
|
|
NM_001371279.1(REEP1):c.424G>C (p.Gly142Arg)
|
rs864622642
|
|
|
NM_001371279.1(REEP1):c.434C>T (p.Ser145Leu)
|
|
|
|
NM_001371279.1(REEP1):c.437A>G (p.Glu146Gly)
|
|
|
|
NM_001371279.1(REEP1):c.440G>T (p.Arg147Ile)
|
rs1060503497
|
|
|
NM_001371279.1(REEP1):c.441A>G (p.Arg147=)
|
|
|
|
NM_001371279.1(REEP1):c.442C>T (p.Leu148=)
|
|
|
|
NM_001371279.1(REEP1):c.445C>T (p.Arg149Trp)
|
rs771715116
|
|
|
NM_001371279.1(REEP1):c.449G>A (p.Ser150Asn)
|
rs1675102279
|
|
|
NM_001371279.1(REEP1):c.44G>T (p.Gly15Val)
|
|
|
|
NM_001371279.1(REEP1):c.450C>T (p.Ser150=)
|
|
|
|
NM_001371279.1(REEP1):c.457A>C (p.Met153Leu)
|
|
|
|
NM_001371279.1(REEP1):c.460C>T (p.Gln154Ter)
|
rs2104054009
|
|
|
NM_001371279.1(REEP1):c.470C>T (p.Thr157Ile)
|
|
|
|
NM_001371279.1(REEP1):c.473C>T (p.Thr158Ile)
|
|
|
|
NM_001371279.1(REEP1):c.475A>G (p.Ile159Val)
|
|
|
|
NM_001371279.1(REEP1):c.477C>T (p.Ile159=)
|
rs2104053665
|
|
|
NM_001371279.1(REEP1):c.478_479del (p.Arg160fs)
|
rs1675100341
|
|
|
NM_001371279.1(REEP1):c.478del (p.Arg160fs)
|
rs1675100502
|
|
|
NM_001371279.1(REEP1):c.490G>A (p.Ala164Thr)
|
|
|
|
NM_001371279.1(REEP1):c.495del (p.Ala166fs)
|
rs1558875298
|
|
|
NM_001371279.1(REEP1):c.49C>A (p.Leu17Ile)
|
rs1553465460
|
|
|
NM_001371279.1(REEP1):c.4G>A (p.Val2Met)
|
rs898778508
|
|
|
NM_001371279.1(REEP1):c.503C>T (p.Ser168Leu)
|
|
|
|
NM_001371279.1(REEP1):c.504G>A (p.Ser168=)
|
|
|
|
NM_001371279.1(REEP1):c.507C>T (p.Gly169=)
|
|
|
|
NM_001371279.1(REEP1):c.512del (p.Pro171fs)
|
rs387906263
|
|
|
NM_001371279.1(REEP1):c.515C>T (p.Pro172Leu)
|
|
|
|
NM_001371279.1(REEP1):c.515del (p.Pro172fs)
|
rs1574005451
|
|
|
NM_001371279.1(REEP1):c.518C>G (p.Pro173Arg)
|
|
|
|
NM_001371279.1(REEP1):c.52del (p.Tyr18fs)
|
rs2104395088
|
|
|
NM_001371279.1(REEP1):c.530G>A (p.Arg177Gln)
|
|
|
|
NM_001371279.1(REEP1):c.537C>A (p.Ser179Arg)
|
rs201564869
|
|
|
NM_001371279.1(REEP1):c.538_553del (p.Gly180fs)
|
rs1064792986
|
|
|
NM_001371279.1(REEP1):c.540C>T (p.Gly180=)
|
rs1218144193
|
|
|
NM_001371279.1(REEP1):c.542A>C (p.Lys181Thr)
|
rs1039369434
|
|
|
NM_001371279.1(REEP1):c.544C>T (p.His182Tyr)
|
|
|
|
NM_001371279.1(REEP1):c.546C>T (p.His182=)
|
|
|
|
NM_001371279.1(REEP1):c.550C>T (p.Gln184Ter)
|
rs2104051740
|
|
|
NM_001371279.1(REEP1):c.560T>C (p.Met187Thr)
|
|
|
|
NM_001371279.1(REEP1):c.561G>A (p.Met187Ile)
|
rs1378939892
|
|
|
NM_001371279.1(REEP1):c.567del (p.Ser190fs)
|
rs2104051526
|
|
|
NM_001371279.1(REEP1):c.56C>G (p.Pro19Arg)
|
rs1060503496
|
|
|
NM_001371279.1(REEP1):c.56C>T (p.Pro19Leu)
|
rs1060503496
|
|
|
NM_001371279.1(REEP1):c.570T>C (p.Ser190=)
|
rs1454076238
|
|
|
NM_001371279.1(REEP1):c.57del (p.Ala20fs)
|
|
|
|
NM_001371279.1(REEP1):c.582C>A (p.Ser194Arg)
|
rs540194528
|
|
|
NM_001371279.1(REEP1):c.583G>A (p.Ala195Thr)
|
rs757800031
|
|
|
NM_001371279.1(REEP1):c.583G>T (p.Ala195Ser)
|
rs757800031
|
|
|
NM_001371279.1(REEP1):c.58G>A (p.Ala20Thr)
|
rs1266102026
|
|
|
NM_001371279.1(REEP1):c.58G>C (p.Ala20Pro)
|
rs1266102026
|
|
|
NM_001371279.1(REEP1):c.58G>T (p.Ala20Ser)
|
|
|
|
NM_001371279.1(REEP1):c.594A>T (p.Ser198=)
|
|
|
|
NM_001371279.1(REEP1):c.595+1G>A
|
rs869312880
|
|
|
NM_001371279.1(REEP1):c.595+4G>A
|
|
|
|
NM_001371279.1(REEP1):c.59C>A (p.Ala20Glu)
|
rs121918262
|
|
|
NM_001371279.1(REEP1):c.59C>T (p.Ala20Val)
|
rs121918262
|
|
|
NM_001371279.1(REEP1):c.60G>A (p.Ala20=)
|
rs186480337
|
|
|
NM_001371279.1(REEP1):c.715G>A (p.Glu239Lys)
|
|
|
|
NM_001371279.1(REEP1):c.72C>A (p.Tyr24Ter)
|
|
|
|
NM_001371279.1(REEP1):c.74dup (p.Ala26fs)
|
rs2104394867
|
|
|
NM_001371279.1(REEP1):c.76G>A (p.Ala26Thr)
|
rs1299952460
|
|
|
NM_001371279.1(REEP1):c.784-18_784-15del
|
rs760605373
|
|
|
NM_001371279.1(REEP1):c.784-20_784-19delinsTG
|
rs2103944805
|
|
|
NM_001371279.1(REEP1):c.784-4C>G
|
|
|
|
NM_001371279.1(REEP1):c.791del (p.Pro264fs)
|
rs1558863350
|
|
|
NM_001371279.1(REEP1):c.792T>C (p.Pro264=)
|
|
|
|
NM_001371279.1(REEP1):c.792T>G (p.Pro264=)
|
rs2103944449
|
|
|
NM_001371279.1(REEP1):c.793A>G (p.Arg265Gly)
|
rs587781248
|
|
|
NM_001371279.1(REEP1):c.794G>A (p.Arg265Lys)
|
rs2103944404
|
|
|
NM_001371279.1(REEP1):c.88A>C (p.Lys30Gln)
|
rs1434743601
|
|
|
NM_001371279.1(REEP1):c.94A>T (p.Ile32Phe)
|
|
|
|
NM_001376.5(DYNC1H1):c.7979T>G (p.Val2660Gly)
|
rs201272954
|
|
|
NM_001385875.1(ZFYVE27):c.*1051T>C
|
rs1002228925
|
|
|
NM_001385875.1(ZFYVE27):c.*1099A>G
|
rs963117445
|
|
|
NM_001385875.1(ZFYVE27):c.*1150C>T
|
rs573448961
|
|
|
NM_001385875.1(ZFYVE27):c.*1195C>T
|
rs540494473
|
|
|
NM_001385875.1(ZFYVE27):c.*1211G>T
|
rs2049308679
|
|
|
NM_001385875.1(ZFYVE27):c.*1308A>C
|
rs1047537
|
|
|
NM_001385875.1(ZFYVE27):c.*1308A>G
|
rs1047537
|
|
|
NM_001385875.1(ZFYVE27):c.*1428A>C
|
rs2049334187
|
|
|
NM_001385875.1(ZFYVE27):c.*1442A>C
|
rs1403356703
|
|
|
NM_001385875.1(ZFYVE27):c.*163C>G
|
rs41290464
|
|
|
NM_001385875.1(ZFYVE27):c.*163C>T
|
rs41290464
|
|
|
NM_001385875.1(ZFYVE27):c.*211T>G
|
rs1398748816
|
|
|
NM_001385875.1(ZFYVE27):c.*492T>C
|
rs1008372787
|
|
|
NM_001385875.1(ZFYVE27):c.*57C>G
|
rs547223774
|
|
|
NM_001385875.1(ZFYVE27):c.*945G>A
|
rs886047529
|
|
|
NM_001385875.1(ZFYVE27):c.-1-10A>G
|
rs766365947
|
|
|
NM_001385875.1(ZFYVE27):c.1078C>G (p.Leu360Val)
|
|
|
|
NM_001385875.1(ZFYVE27):c.1089+3G>A
|
rs556454107
|
|
|
NM_001385875.1(ZFYVE27):c.1167C>A (p.Ala389=)
|
rs768113258
|
|
|
NM_001385875.1(ZFYVE27):c.197+8C>T
|
rs2042754738
|
|
|
NM_001385875.1(ZFYVE27):c.219C>G (p.Ser73=)
|
rs969294428
|
|
|
NM_001385875.1(ZFYVE27):c.310G>A (p.Ala104Thr)
|
|
|
|
NM_001385875.1(ZFYVE27):c.797C>T (p.Pro266Leu)
|
rs886047525
|
|
|
NM_001385875.1(ZFYVE27):c.805-5C>T
|
rs535449776
|
|
|
NM_001385875.1(ZFYVE27):c.815C>T (p.Pro272Leu)
|
|
|
|
NM_001385875.1(ZFYVE27):c.914C>T (p.Ala305Val)
|
rs886047526
|
|
|
NM_001385875.1(ZFYVE27):c.916C>T (p.Pro306Ser)
|
rs750236764
|
|
|
NM_001478.5(B4GALNT1):c.1002G>T (p.Lys334Asn)
|
rs1471760048
|
|
|
NM_001478.5(B4GALNT1):c.1298A>C (p.Asp433Ala)
|
rs879255242
|
|
|
NM_001478.5(B4GALNT1):c.1322C>A (p.Ala441Glu)
|
|
|
|
NM_001478.5(B4GALNT1):c.1400G>A (p.Gly467Glu)
|
rs1555185818
|
|
|
NM_001478.5(B4GALNT1):c.1415G>C (p.Arg472Pro)
|
rs759528128
|
|
|
NM_001478.5(B4GALNT1):c.1513C>T (p.Arg505Cys)
|
rs1884842111
|
|
|
NM_001478.5(B4GALNT1):c.263dup (p.Leu89fs)
|
rs745744124
|
|
|
NM_001478.5(B4GALNT1):c.358C>T (p.Gln120Ter)
|
rs879255241
|
|
|
NM_001478.5(B4GALNT1):c.395del (p.Pro132fs)
|
rs766591558
|
|
|
NM_001478.5(B4GALNT1):c.512C>T (p.Ser171Phe)
|
rs759353736
|
|
|
NM_001478.5(B4GALNT1):c.532-2A>G
|
rs1885117995
|
|
|
NM_001478.5(B4GALNT1):c.532-2_532-1delinsTC
|
|
|
|
NM_001478.5(B4GALNT1):c.584del (p.Gly195fs)
|
|
|
|
NM_001776.6(ENTPD1):c.*6948del
|
rs2141032994
|
|
|
NM_001776.6(ENTPD1):c.1014C>T (p.Cys338=)
|
|
|
|
NM_001776.6(ENTPD1):c.1020C>G (p.Tyr340Ter)
|
|
|
|
NM_001776.6(ENTPD1):c.1026G>A (p.Gln342=)
|
rs553887215
|
|
|
NM_001776.6(ENTPD1):c.1037A>G (p.Asn346Ser)
|
|
|
|
NM_001776.6(ENTPD1):c.1050G>C (p.Leu350Phe)
|
rs1004293638
|
|
|
NM_001776.6(ENTPD1):c.1074+15T>C
|
|
|
|
NM_001776.6(ENTPD1):c.1075-16C>T
|
|
|
|
NM_001776.6(ENTPD1):c.1075-5T>C
|
|
|
|
NM_001776.6(ENTPD1):c.1086T>C (p.Ala362=)
|
|
|
|
NM_001776.6(ENTPD1):c.1109T>A (p.Leu370Ter)
|
|
|
|
NM_001776.6(ENTPD1):c.1110A>T (p.Leu370Phe)
|
rs2140974452
|
|
|
NM_001776.6(ENTPD1):c.1139A>G (p.Glu380Gly)
|
|
|
|
NM_001776.6(ENTPD1):c.1174C>T (p.Gln392Ter)
|
|
|
|
NM_001776.6(ENTPD1):c.1183G>C (p.Glu395Gln)
|
rs1400517603
|
|
|
NM_001776.6(ENTPD1):c.1185G>A (p.Glu395=)
|
|
|
|
NM_001776.6(ENTPD1):c.1197A>G (p.Thr399=)
|
|
|
|
NM_001776.6(ENTPD1):c.1203C>T (p.Tyr401=)
|
|
|
|
NM_001776.6(ENTPD1):c.1227G>A (p.Leu409=)
|
|
|
|
NM_001776.6(ENTPD1):c.1296_1301del (p.Asp432_Trp434delinsGlu)
|
|
|
|
NM_001776.6(ENTPD1):c.1303G>A (p.Glu435Lys)
|
rs755289249
|
|
|
NM_001776.6(ENTPD1):c.1326+12del
|
|
|
|
NM_001776.6(ENTPD1):c.1326+14C>A
|
|
|
|
NM_001776.6(ENTPD1):c.1326+16G>T
|
|
|
|
NM_001776.6(ENTPD1):c.1326+6T>C
|
rs971522483
|
|
|
NM_001776.6(ENTPD1):c.1326+7del
|
rs756840545
|
|
|
NM_001776.6(ENTPD1):c.1326+9G>A
|
|
|
|
NM_001776.6(ENTPD1):c.1327-13C>T
|
|
|
|
NM_001776.6(ENTPD1):c.1327-8G>C
|
|
|
|
NM_001776.6(ENTPD1):c.1341C>T (p.Asp447=)
|
|
|
|
NM_001776.6(ENTPD1):c.1344C>T (p.Ala448=)
|
|
|
|
NM_001776.6(ENTPD1):c.1345G>A (p.Gly449Ser)
|
rs761374158
|
|
|
NM_001776.6(ENTPD1):c.1351A>C (p.Thr451Pro)
|
|
|
|
NM_001776.6(ENTPD1):c.1352C>A (p.Thr451Asn)
|
|
|
|
NM_001776.6(ENTPD1):c.1362C>T (p.Tyr454=)
|
|
|
|
NM_001776.6(ENTPD1):c.138C>T (p.Asn46=)
|
|
|
|
NM_001776.6(ENTPD1):c.1430A>G (p.Tyr477Cys)
|
|
|
|
NM_001776.6(ENTPD1):c.1431T>C (p.Tyr477=)
|
|
|
|
NM_001776.6(ENTPD1):c.1441A>C (p.Met481Leu)
|
rs1373770480
|
|
|
NM_001776.6(ENTPD1):c.1449A>G (p.Leu483=)
|
|
|
|
NM_001776.6(ENTPD1):c.145-11G>A
|
|
|
|
NM_001776.6(ENTPD1):c.145-13G>A
|
|
|
|
NM_001776.6(ENTPD1):c.1455C>T (p.Ser485=)
|
|
|
|
NM_001776.6(ENTPD1):c.1494C>T (p.Ile498=)
|
rs565508317
|
|
|
NM_001776.6(ENTPD1):c.1503G>A (p.Lys501=)
|
|
|
|
NM_001776.6(ENTPD1):c.16+13T>C
|
rs766973012
|
|
|
NM_001776.6(ENTPD1):c.16+9A>C
|
|
|
|
NM_001776.6(ENTPD1):c.165G>C (p.Ala55=)
|
rs377317244
|
|
|
NM_001776.6(ENTPD1):c.17-13C>T
|
|
|
|
NM_001776.6(ENTPD1):c.17-16C>T
|
|
|
|
NM_001776.6(ENTPD1):c.17-7G>A
|
|
|
|
NM_001776.6(ENTPD1):c.177C>G (p.His59Gln)
|
rs1555301559
|
|
|
NM_001776.6(ENTPD1):c.189C>T (p.Tyr63=)
|
|
|
|
NM_001776.6(ENTPD1):c.19T>G (p.Ser7Ala)
|
|
|
|
NM_001776.6(ENTPD1):c.228C>T (p.Gly76=)
|
|
|
|
NM_001776.6(ENTPD1):c.259A>G (p.Lys87Glu)
|
|
|
|
NM_001776.6(ENTPD1):c.262+17G>A
|
rs1403275794
|
|
|
NM_001776.6(ENTPD1):c.284T>C (p.Val95Ala)
|
rs2098424427
|
|
|
NM_001776.6(ENTPD1):c.357C>T (p.Ser119=)
|
|
|
|
NM_001776.6(ENTPD1):c.375C>T (p.Pro125=)
|
|
|
|
NM_001776.6(ENTPD1):c.393G>A (p.Thr131=)
|
|
|
|
NM_001776.6(ENTPD1):c.399C>T (p.Gly133=)
|
|
|
|
NM_001776.6(ENTPD1):c.405G>T (p.Arg135=)
|
rs2140831910
|
|
|
NM_001776.6(ENTPD1):c.414-11_414-8del
|
|
|
|
NM_001776.6(ENTPD1):c.414-13T>C
|
|
|
|
NM_001776.6(ENTPD1):c.414-17G>T
|
|
|
|
NM_001776.6(ENTPD1):c.414-6G>A
|
rs1214012122
|
|
|
NM_001776.6(ENTPD1):c.414-6G>T
|
|
|
|
NM_001776.6(ENTPD1):c.419A>C (p.Glu140Ala)
|
|
|
|
NM_001776.6(ENTPD1):c.43A>G (p.Lys15Glu)
|
|
|
|
NM_001776.6(ENTPD1):c.457del (p.Glu153fs)
|
|
|
|
NM_001776.6(ENTPD1):c.479C>T (p.Pro160Leu)
|
|
|
|
NM_001776.6(ENTPD1):c.519G>A (p.Glu173=)
|
|
|
|
NM_001776.6(ENTPD1):c.520G>T (p.Glu174Ter)
|
rs587777200
|
|
|
NM_001776.6(ENTPD1):c.537G>T (p.Trp179Cys)
|
rs2140853040
|
|
|
NM_001776.6(ENTPD1):c.551A>C (p.Tyr184Ser)
|
rs1590121989
|
|
|
NM_001776.6(ENTPD1):c.573+16C>T
|
|
|
|
NM_001776.6(ENTPD1):c.574-20G>A
|
|
|
|
NM_001776.6(ENTPD1):c.574-6_574-3del
|
rs1412393736
|
|
|
NM_001776.6(ENTPD1):c.608C>T (p.Thr203Ile)
|
|
|
|
NM_001776.6(ENTPD1):c.623C>A (p.Thr208Asn)
|
rs776491594
|
|
|
NM_001776.6(ENTPD1):c.628G>A (p.Gly210Arg)
|
rs1566229309
|
|
|
NM_001776.6(ENTPD1):c.640del (p.Gly216fs)
|
|
|
|
NM_001776.6(ENTPD1):c.656C>T (p.Thr219Ile)
|
|
|
|
NM_001776.6(ENTPD1):c.670G>A (p.Val224Ile)
|
rs372290136
|
|
|
NM_001776.6(ENTPD1):c.690C>T (p.Ile230=)
|
|
|
|
NM_001776.6(ENTPD1):c.718C>T (p.Arg240Cys)
|
|
|
|
NM_001776.6(ENTPD1):c.740A>G (p.Asn247Ser)
|
|
|
|
NM_001776.6(ENTPD1):c.770_771del (p.Gly257fs)
|
rs1590126497
|
|
|
NM_001776.6(ENTPD1):c.78C>G (p.Ile26Met)
|
rs2140559554
|
|
|
NM_001776.6(ENTPD1):c.808A>G (p.Ile270Val)
|
|
|
|
NM_001776.6(ENTPD1):c.813+19del
|
|
|
|
NM_001776.6(ENTPD1):c.813+2C>G
|
|
|
|
NM_001776.6(ENTPD1):c.858A>G (p.Gly286=)
|
|
|
|
NM_001776.6(ENTPD1):c.861T>A (p.Tyr287Ter)
|
|
|
|
NM_001776.6(ENTPD1):c.871G>A (p.Val291Met)
|
|
|
|
NM_001776.6(ENTPD1):c.876C>T (p.Asn292=)
|
|
|
|
NM_001776.6(ENTPD1):c.879A>G (p.Val293=)
|
|
|
|
NM_001776.6(ENTPD1):c.915T>C (p.Phe305=)
|
|
|
|
NM_001776.6(ENTPD1):c.926T>C (p.Leu309Pro)
|
|
|
|
NM_001776.6(ENTPD1):c.939G>A (p.Gln313=)
|
|
|
|
NM_001776.6(ENTPD1):c.978T>C (p.His326=)
|
|
|
|
NM_001776.6(ENTPD1):c.979C>G (p.Gln327Glu)
|
|
|
|
NM_001958.5(EEF1A2):c.305T>C (p.Met102Thr)
|
rs2082414008
|
|
|
NM_002047.4(GARS1):c.1809+10_1809+12del
|
rs747338292
|
|
|
NM_002055.5(GFAP):c.716G>A (p.Arg239His)
|
rs59565950
|
|
|
NM_002156.5(HSPD1):c.*121T>C
|
rs2086032939
|
|
|
NM_002156.5(HSPD1):c.*454T>G
|
rs886055384
|
|
|
NM_002156.5(HSPD1):c.*459T>G
|
rs2086028003
|
|
|
NM_002156.5(HSPD1):c.*56G>A
|
rs886055385
|
|
|
NM_002156.5(HSPD1):c.-20C>G
|
rs563816458
|
|
|
NM_002156.5(HSPD1):c.-3+15C>A
|
rs59701865
|
|
|
NM_002156.5(HSPD1):c.-3+15C>T
|
rs59701865
|
|
|
NM_002156.5(HSPD1):c.1029A>G (p.Gly343=)
|
rs1433866863
|
|
|
NM_002156.5(HSPD1):c.1294G>T (p.Val432Phe)
|
rs184516277
|
|
|
NM_002156.5(HSPD1):c.1381C>G (p.Gln461Glu)
|
|
|
|
NM_002156.5(HSPD1):c.1388T>C (p.Ile463Thr)
|
rs2086051396
|
|
|
NM_002156.5(HSPD1):c.1434C>G (p.Thr478=)
|
rs199527127
|
|
|
NM_002156.5(HSPD1):c.145G>C (p.Asp49His)
|
rs2086193574
|
|
|
NM_002156.5(HSPD1):c.1545A>G (p.Glu515=)
|
rs2106070461
|
|
|
NM_002156.5(HSPD1):c.1607C>T (p.Ala536Val)
|
rs863224878
|
|
|
NM_002156.5(HSPD1):c.292G>A (p.Val98Ile)
|
rs66468541
|
|
|
NM_002156.5(HSPD1):c.299A>T (p.Asp100Val)
|
|
|
|
NM_002156.5(HSPD1):c.445G>C (p.Asp149His)
|
rs781225976
|
|
|
NM_002156.5(HSPD1):c.581G>A (p.Gly194Glu)
|
rs2086136324
|
|
|
NM_002156.5(HSPD1):c.607-4A>G
|
rs886055388
|
|
|
NM_002156.5(HSPD1):c.691A>T (p.Thr231Ser)
|
rs2106076413
|
|
|
NM_002156.5(HSPD1):c.692C>T (p.Thr231Ile)
|
rs2086128764
|
|
|
NM_002156.5(HSPD1):c.849A>G (p.Leu283=)
|
rs557196021
|
|
|
NM_002156.5(HSPD1):c.859G>A (p.Val287Ile)
|
rs886055387
|
|
|
NM_002156.5(HSPD1):c.868A>C (p.Arg290=)
|
rs2106075505
|
|
|
NM_002156.5(HSPD1):c.870-3C>T
|
rs1559301137
|
|
|
NM_002267.4(KPNA3):c.1001T>G (p.Leu334Arg)
|
|
|
|
NM_002267.4(KPNA3):c.1049T>C (p.Leu350Pro)
|
|
|
|
NM_002267.4(KPNA3):c.1116G>A (p.Met372Ile)
|
|
|
|
NM_002267.4(KPNA3):c.1220T>G (p.Leu407Arg)
|
|
|
|
NM_002267.4(KPNA3):c.1418T>C (p.Ile473Thr)
|
|
|
|
NM_002267.4(KPNA3):c.368T>G (p.Leu123Arg)
|
|
|
|
NM_002267.4(KPNA3):c.465G>T (p.Gln155His)
|
|
|
|
NM_002267.4(KPNA3):c.944C>T (p.Thr315Ile)
|
|
|
|
NM_002267.4(KPNA3):c.983T>C (p.Leu328Pro)
|
|
|
|
NM_002361.4(MAG):c.1025C>T (p.Thr342Met)
|
|
|
|
NM_002361.4(MAG):c.1029C>A (p.Val343=)
|
|
|
|
NM_002361.4(MAG):c.1044C>T (p.Ser348=)
|
|
|
|
NM_002361.4(MAG):c.1053C>T (p.Ser351=)
|
rs2066456035
|
|
|
NM_002361.4(MAG):c.1058C>T (p.Pro353Leu)
|
rs778356275
|
|
|
NM_002361.4(MAG):c.105C>T (p.Gly35=)
|
|
|
|
NM_002361.4(MAG):c.1074C>G (p.Thr358=)
|
|
|
|
NM_002361.4(MAG):c.1113C>T (p.Tyr371=)
|
|
|
|
NM_002361.4(MAG):c.1119C>T (p.Ser373=)
|
|
|
|
NM_002361.4(MAG):c.1126C>T (p.Gln376Ter)
|
rs2066456693
|
|
|
NM_002361.4(MAG):c.1139C>G (p.Pro380Arg)
|
rs369453547
|
|
|
NM_002361.4(MAG):c.1143C>A (p.Ala381=)
|
|
|
|
NM_002361.4(MAG):c.1143C>T (p.Ala381=)
|
rs146330554
|
|
|
NM_002361.4(MAG):c.1144G>T (p.Val382Leu)
|
rs751480059
|
|
|
NM_002361.4(MAG):c.1156G>A (p.Asp386Asn)
|
|
|
|
NM_002361.4(MAG):c.116C>T (p.Ser39Phe)
|
rs201798784
|
|
|
NM_002361.4(MAG):c.1182T>C (p.Ala394=)
|
|
|
|
NM_002361.4(MAG):c.1193A>G (p.Tyr398Cys)
|
rs2145615651
|
|
|
NM_002361.4(MAG):c.120C>A (p.Ile40=)
|
rs374238503
|
|
|
NM_002361.4(MAG):c.1218C>T (p.Asn406=)
|
|
|
|
NM_002361.4(MAG):c.1231+9C>A
|
|
|
|
NM_002361.4(MAG):c.1232-18C>A
|
|
|
|
NM_002361.4(MAG):c.1232-3_1240del
|
|
|
|
NM_002361.4(MAG):c.1233C>T (p.Phe411=)
|
|
|
|
NM_002361.4(MAG):c.1239T>G (p.Pro413=)
|
|
|
|
NM_002361.4(MAG):c.1246C>T (p.Leu416Phe)
|
|
|
|
NM_002361.4(MAG):c.1260C>T (p.His420=)
|
|
|
|
NM_002361.4(MAG):c.1288T>G (p.Cys430Gly)
|
rs587777229
|
|
|
NM_002361.4(MAG):c.128G>A (p.Arg43His)
|
|
|
|
NM_002361.4(MAG):c.1296C>T (p.Cys432=)
|
|
|
|
NM_002361.4(MAG):c.1297G>A (p.Val433Met)
|
|
|
|
NM_002361.4(MAG):c.1317G>A (p.Glu439=)
|
|
|
|
NM_002361.4(MAG):c.1320G>A (p.Pro440=)
|
rs200859170
|
|
|
NM_002361.4(MAG):c.1324G>A (p.Val442Met)
|
rs760644405
|
|
|
NM_002361.4(MAG):c.1341A>G (p.Pro447=)
|
|
|
|
NM_002361.4(MAG):c.1353G>T (p.Val451=)
|
|
|
|
NM_002361.4(MAG):c.1356C>T (p.Thr452=)
|
|
|
|
NM_002361.4(MAG):c.1380C>T (p.Phe460=)
|
|
|
|
NM_002361.4(MAG):c.1386C>T (p.Tyr462=)
|
|
|
|
NM_002361.4(MAG):c.1387T>G (p.Ser463Ala)
|
|
|
|
NM_002361.4(MAG):c.1388C>T (p.Ser463Leu)
|
|
|
|
NM_002361.4(MAG):c.1429C>T (p.Arg477Trp)
|
|
|
|
NM_002361.4(MAG):c.1437G>A (p.Gln479=)
|
|
|
|
NM_002361.4(MAG):c.1449G>T (p.Pro483=)
|
|
|
|
NM_002361.4(MAG):c.1470G>A (p.Ala490=)
|
|
|
|
NM_002361.4(MAG):c.1470G>T (p.Ala490=)
|
|
|
|
NM_002361.4(MAG):c.150G>C (p.Leu50=)
|
|
|
|
NM_002361.4(MAG):c.1519+15C>G
|
|
|
|
NM_002361.4(MAG):c.1520-3_1520-2del
|
|
|
|
NM_002361.4(MAG):c.1520-4T>G
|
|
|
|
NM_002361.4(MAG):c.1522C>T (p.Arg508Ter)
|
rs2066519362
|
|
|
NM_002361.4(MAG):c.1523_1530del (p.Arg508fs)
|
|
|
|
NM_002361.4(MAG):c.152G>A (p.Arg51Gln)
|
|
|
|
NM_002361.4(MAG):c.153G>A (p.Arg51=)
|
|
|
|
NM_002361.4(MAG):c.1563C>T (p.Val521=)
|
|
|
|
NM_002361.4(MAG):c.1566C>T (p.Ala522=)
|
|
|
|
NM_002361.4(MAG):c.1568T>C (p.Phe523Ser)
|
|
|
|
NM_002361.4(MAG):c.1576_1587dup (p.Ile529_Val530insLeuIleAlaIle)
|
|
|
|
NM_002361.4(MAG):c.1587C>T (p.Ile529=)
|
|
|
|
NM_002361.4(MAG):c.15G>A (p.Thr5=)
|
|
|
|
NM_002361.4(MAG):c.15G>C (p.Thr5=)
|
|
|
|
NM_002361.4(MAG):c.1603C>G (p.Gln535Glu)
|
|
|
|
NM_002361.4(MAG):c.1616+1G>A
|
|
|
|
NM_002361.4(MAG):c.1671G>A (p.Leu557=)
|
|
|
|
NM_002361.4(MAG):c.1687C>T (p.Arg563Cys)
|
|
|
|
NM_002361.4(MAG):c.1714G>A (p.Glu572Lys)
|
rs1286617721
|
|
|
NM_002361.4(MAG):c.1716+12G>C
|
|
|
|
NM_002361.4(MAG):c.1717-6T>A
|
|
|
|
NM_002361.4(MAG):c.1717-8C>T
|
|
|
|
NM_002361.4(MAG):c.1727G>A (p.Arg576His)
|
|
|
|
NM_002361.4(MAG):c.1755C>A (p.Gly585=)
|
|
|
|
NM_002361.4(MAG):c.1759C>T (p.Arg587Trp)
|
|
|
|
NM_002361.4(MAG):c.1770C>A (p.Pro590=)
|
rs201562930
|
|
|
NM_002361.4(MAG):c.1770C>T (p.Pro590=)
|
|
|
|
NM_002361.4(MAG):c.1773A>G (p.Pro591=)
|
|
|
|
NM_002361.4(MAG):c.1788C>T (p.Ser596=)
|
|
|
|
NM_002361.4(MAG):c.1811A>G (p.Lys604Arg)
|
|
|
|
NM_002361.4(MAG):c.1820C>A (p.Thr607Asn)
|
|
|
|
NM_002361.4(MAG):c.1831T>C (p.Tyr611His)
|
rs376265373
|
|
|
NM_002361.4(MAG):c.1835C>T (p.Thr612Met)
|
|
|
|
NM_002361.4(MAG):c.1851A>C (p.Leu617=)
|
|
|
|
NM_002361.4(MAG):c.185A>G (p.Asn62Ser)
|
|
|
|
NM_002361.4(MAG):c.213G>A (p.Pro71=)
|
|
|
|
NM_002361.4(MAG):c.228G>A (p.Ser76=)
|
rs142334011
|
|
|
NM_002361.4(MAG):c.228G>C (p.Ser76=)
|
|
|
|
NM_002361.4(MAG):c.228G>T (p.Ser76=)
|
|
|
|
NM_002361.4(MAG):c.230G>A (p.Arg77His)
|
rs140544202
|
|
|
NM_002361.4(MAG):c.230G>T (p.Arg77Leu)
|
|
|
|
NM_002361.4(MAG):c.243C>G (p.Val81=)
|
rs757126944
|
|
|
NM_002361.4(MAG):c.268C>T (p.Arg90Cys)
|
|
|
|
NM_002361.4(MAG):c.269G>A (p.Arg90His)
|
|
|
|
NM_002361.4(MAG):c.318C>A (p.Asn106Lys)
|
|
|
|
NM_002361.4(MAG):c.318C>T (p.Asn106=)
|
|
|
|
NM_002361.4(MAG):c.321C>T (p.Val107=)
|
|
|
|
NM_002361.4(MAG):c.328G>T (p.Glu110Ter)
|
rs770788013
|
|
|
NM_002361.4(MAG):c.329A>C (p.Glu110Ala)
|
|
|
|
NM_002361.4(MAG):c.337G>A (p.Gly113Arg)
|
|
|
|
NM_002361.4(MAG):c.367G>A (p.Gly123Ser)
|
|
|
|
NM_002361.4(MAG):c.372C>T (p.Tyr124=)
|
|
|
|
NM_002361.4(MAG):c.399C>G (p.Ser133Arg)
|
rs2301600
|
|
|
NM_002361.4(MAG):c.400G>A (p.Val134Ile)
|
|
|
|
NM_002361.4(MAG):c.40A>G (p.Ile14Val)
|
|
|
|
NM_002361.4(MAG):c.416-12C>G
|
|
|
|
NM_002361.4(MAG):c.416-12C>T
|
|
|
|
NM_002361.4(MAG):c.430G>T (p.Val144Leu)
|
|
|
|
NM_002361.4(MAG):c.46+20G>A
|
|
|
|
NM_002361.4(MAG):c.46+5C>A
|
rs200192210
|
|
|
NM_002361.4(MAG):c.46+6G>A
|
|
|
|
NM_002361.4(MAG):c.468G>C (p.Glu156Asp)
|
|
|
|
NM_002361.4(MAG):c.47-13T>C
|
rs2145604502
|
|
|
NM_002361.4(MAG):c.47-15C>T
|
|
|
|
NM_002361.4(MAG):c.47-16T>A
|
|
|
|
NM_002361.4(MAG):c.47-19C>T
|
|
|
|
NM_002361.4(MAG):c.470del (p.Val157fs)
|
|
|
|
NM_002361.4(MAG):c.481G>C (p.Val161Leu)
|
rs770946769
|
|
|
NM_002361.4(MAG):c.486G>A (p.Pro162=)
|
|
|
|
NM_002361.4(MAG):c.513G>T (p.Glu171Asp)
|
|
|
|
NM_002361.4(MAG):c.517_521dup (p.Trp174Ter)
|
rs771777424
|
|
|
NM_002361.4(MAG):c.52C>A (p.Arg18=)
|
rs2066390615
|
|
|
NM_002361.4(MAG):c.537G>A (p.Gly179=)
|
rs201920156
|
|
|
NM_002361.4(MAG):c.541G>T (p.Gly181Trp)
|
rs2066431561
|
|
|
NM_002361.4(MAG):c.558G>T (p.Leu186=)
|
|
|
|
NM_002361.4(MAG):c.562C>T (p.Arg188Trp)
|
rs2145611265
|
|
|
NM_002361.4(MAG):c.580G>A (p.Gly194Ser)
|
|
|
|
NM_002361.4(MAG):c.601C>G (p.Leu201Val)
|
|
|
|
NM_002361.4(MAG):c.603_604delinsAA (p.Leu202Met)
|
rs36055167
|
|
|
NM_002361.4(MAG):c.608A>G (p.His203Arg)
|
|
|
|
NM_002361.4(MAG):c.612C>T (p.Phe204=)
|
|
|
|
NM_002361.4(MAG):c.619A>G (p.Thr207Ala)
|
|
|
|
NM_002361.4(MAG):c.621G>A (p.Thr207=)
|
|
|
|
NM_002361.4(MAG):c.642G>A (p.Arg214=)
|
rs1279257840
|
|
|
NM_002361.4(MAG):c.657C>G (p.Ala219=)
|
|
|
|
NM_002361.4(MAG):c.657C>T (p.Ala219=)
|
rs199895804
|
|
|
NM_002361.4(MAG):c.672C>T (p.Thr224=)
|
|
|
|
NM_002361.4(MAG):c.687G>A (p.Glu229=)
|
rs2145611517
|
|
|
NM_002361.4(MAG):c.694G>A (p.Ala232Thr)
|
|
|
|
NM_002361.4(MAG):c.706G>A (p.Val236Ile)
|
|
|
|
NM_002361.4(MAG):c.711G>C (p.Lys237Asn)
|
|
|
|
NM_002361.4(MAG):c.712+15GGGCG[3]
|
|
|
|
NM_002361.4(MAG):c.712+15GGGCG[4]
|
|
|
|
NM_002361.4(MAG):c.712+18C>T
|
|
|
|
NM_002361.4(MAG):c.712+19GGGGCGGGGT[2]
|
rs773009758
|
|
|
NM_002361.4(MAG):c.712+19GGGGCGGGGT[4]
|
rs773009758
|
|
|
NM_002361.4(MAG):c.713-4T>C
|
|
|
|
NM_002361.4(MAG):c.719dup (p.Val241fs)
|
rs770601245
|
|
|
NM_002361.4(MAG):c.723G>T (p.Val241=)
|
|
|
|
NM_002361.4(MAG):c.752C>T (p.Ala251Val)
|
|
|
|
NM_002361.4(MAG):c.760G>A (p.Gly254Ser)
|
|
|
|
NM_002361.4(MAG):c.785G>A (p.Gly262Glu)
|
|
|
|
NM_002361.4(MAG):c.795C>A (p.Ser265Arg)
|
rs2066438141
|
|
|
NM_002361.4(MAG):c.807G>C (p.Pro269=)
|
rs200687098
|
|
|
NM_002361.4(MAG):c.809T>C (p.Leu270Pro)
|
|
|
|
NM_002361.4(MAG):c.828C>T (p.Asp276=)
|
|
|
|
NM_002361.4(MAG):c.831G>C (p.Gly277=)
|
rs1350224163
|
|
|
NM_002361.4(MAG):c.850G>A (p.Val284Met)
|
|
|
|
NM_002361.4(MAG):c.858G>A (p.Glu286=)
|
|
|
|
NM_002361.4(MAG):c.920C>T (p.Ala307Val)
|
|
|
|
NM_002361.4(MAG):c.947G>T (p.Arg316Leu)
|
rs370453303
|
|
|
NM_002361.4(MAG):c.970+17G>A
|
|
|
|
NM_002361.4(MAG):c.970+18T>C
|
|
|
|
NM_002361.4(MAG):c.970+3G>A
|
|
|
|
NM_002361.4(MAG):c.971-15C>T
|
|
|
|
NM_002361.4(MAG):c.971-16C>G
|
|
|
|
NM_002361.4(MAG):c.971-4G>C
|
|
|
|
NM_002693.3(POLG):c.119GGC[4] (p.Arg42dup)
|
rs761080016
|
|
|
NM_002693.3(POLG):c.126GCA[10] (p.Gln55del)
|
rs41550117
|
|
|
NM_002693.3(POLG):c.126GCA[12] (p.Gln55dup)
|
rs41550117
|
|
|
NM_002693.3(POLG):c.126GCA[13] (p.Gln54_Gln55dup)
|
rs41550117
|
|
|
NM_002693.3(POLG):c.126GCA[7] (p.Gln52_Gln55del)
|
rs41550117
|
|
|
NM_002693.3(POLG):c.126GCA[8] (p.Gln53_Gln55del)
|
rs41550117
|
|
|
NM_002693.3(POLG):c.1872G>A (p.Val624=)
|
rs765506021
|
|
|
NM_002693.3(POLG):c.2168G>T (p.Gly723Val)
|
rs2055428060
|
|
|
NM_002693.3(POLG):c.2171G>T (p.Gly724Val)
|
rs2152062941
|
|
|
NM_002693.3(POLG):c.264C>T (p.Phe88=)
|
rs144439703
|
|
|
NM_002693.3(POLG):c.2994G>C (p.Ser998=)
|
rs567030498
|
|
|
NM_002693.3(POLG):c.3244G>A (p.Ala1082Thr)
|
rs1237603598
|
|
|
NM_002693.3(POLG):c.3482+6C>T
|
rs55779802
|
|
|
NM_002693.3(POLG):c.3483-13_3483-10dup
|
rs1324794268
|
|
|
NM_002693.3(POLG):c.522C>G (p.Gly174=)
|
rs766842881
|
|
|
NM_002693.3(POLG):c.830A>T (p.His277Leu)
|
rs138929605
|
|
|
NM_002693.3(POLG):c.970C>T (p.Pro324Ser)
|
rs2307437
|
|
|
NM_002860.4(ALDH18A1):c.1001A>G (p.Lys334Arg)
|
|
|
|
NM_002860.4(ALDH18A1):c.1005G>A (p.Val335=)
|
|
|
|
NM_002860.4(ALDH18A1):c.100C>G (p.Pro34Ala)
|
|
|
|
NM_002860.4(ALDH18A1):c.1015G>A (p.Val339Ile)
|
rs1346763871
|
|
|
NM_002860.4(ALDH18A1):c.1032_1033delinsTC (p.Glu345Gln)
|
|
|
|
NM_002860.4(ALDH18A1):c.1036G>A (p.Gly346Arg)
|
rs2139591398
|
|
|
NM_002860.4(ALDH18A1):c.1042A>G (p.Lys348Glu)
|
|
|
|
NM_002860.4(ALDH18A1):c.1046T>G (p.Val349Gly)
|
|
|
|
NM_002860.4(ALDH18A1):c.1047T>G (p.Val349=)
|
|
|
|
NM_002860.4(ALDH18A1):c.1048G>T (p.Gly350Cys)
|
|
|
|
NM_002860.4(ALDH18A1):c.1050T>C (p.Gly350=)
|
|
|
|
NM_002860.4(ALDH18A1):c.1053C>G (p.Thr351=)
|
|
|
|
NM_002860.4(ALDH18A1):c.1071G>A (p.Lys357=)
|
|
|
|
NM_002860.4(ALDH18A1):c.1072C>A (p.Pro358Thr)
|
|
|
|
NM_002860.4(ALDH18A1):c.1073C>T (p.Pro358Leu)
|
rs868590536
|
|
|
NM_002860.4(ALDH18A1):c.1076C>T (p.Ala359Val)
|
rs933310637
|
|
|
NM_002860.4(ALDH18A1):c.1078+12_1078+14del
|
|
|
|
NM_002860.4(ALDH18A1):c.1078+15A>G
|
|
|
|
NM_002860.4(ALDH18A1):c.1078+20G>A
|
|
|
|
NM_002860.4(ALDH18A1):c.1078+4A>G
|
rs1566018543
|
|
|
NM_002860.4(ALDH18A1):c.1078+5A>G
|
rs2139591190
|
|
|
NM_002860.4(ALDH18A1):c.1078+6T>C
|
rs919353563
|
|
|
NM_002860.4(ALDH18A1):c.1079-11T>C
|
|
|
|
NM_002860.4(ALDH18A1):c.1079-16G>T
|
|
|
|
NM_002860.4(ALDH18A1):c.1079-8T>G
|
|
|
|
NM_002860.4(ALDH18A1):c.1104A>G (p.Glu368=)
|
|
|
|
NM_002860.4(ALDH18A1):c.1106T>C (p.Met369Thr)
|
|
|
|
NM_002860.4(ALDH18A1):c.1111C>T (p.Arg371Ter)
|
rs775201668
|
|
|
NM_002860.4(ALDH18A1):c.1112G>C (p.Arg371Pro)
|
|
|
|
NM_002860.4(ALDH18A1):c.1112G>T (p.Arg371Leu)
|
|
|
|
NM_002860.4(ALDH18A1):c.111C>G (p.Ile37Met)
|
|
|
|
NM_002860.4(ALDH18A1):c.1126A>T (p.Met376Leu)
|
|
|
|
NM_002860.4(ALDH18A1):c.1137C>G (p.Thr379=)
|
|
|
|
NM_002860.4(ALDH18A1):c.1144C>T (p.Pro382Ser)
|
|
|
|
NM_002860.4(ALDH18A1):c.1147G>C (p.Glu383Gln)
|
|
|
|
NM_002860.4(ALDH18A1):c.1150C>G (p.Gln384Glu)
|
|
|
|
NM_002860.4(ALDH18A1):c.1151A>G (p.Gln384Arg)
|
|
|
|
NM_002860.4(ALDH18A1):c.1152+12A>C
|
|
|
|
NM_002860.4(ALDH18A1):c.1152+1G>A
|
|
|
|
NM_002860.4(ALDH18A1):c.1152+4A>G
|
|
|
|
NM_002860.4(ALDH18A1):c.1152+6A>C
|
|
|
|
NM_002860.4(ALDH18A1):c.1153-11C>G
|
|
|
|
NM_002860.4(ALDH18A1):c.1153-6T>C
|
|
|
|
NM_002860.4(ALDH18A1):c.1153-8_1153-5del
|
|
|
|
NM_002860.4(ALDH18A1):c.1169A>G (p.His390Arg)
|
rs2097858992
|
|
|
NM_002860.4(ALDH18A1):c.1172A>T (p.His391Leu)
|
rs774081826
|
|
|
NM_002860.4(ALDH18A1):c.1177G>A (p.Ala393Thr)
|
|
|
|
NM_002860.4(ALDH18A1):c.117T>C (p.His39=)
|
|
|
|
NM_002860.4(ALDH18A1):c.1180G>A (p.Asp394Asn)
|
|
|
|
NM_002860.4(ALDH18A1):c.1191G>A (p.Thr397=)
|
|
|
|
NM_002860.4(ALDH18A1):c.1199G>A (p.Arg400His)
|
rs1283928441
|
|
|
NM_002860.4(ALDH18A1):c.11A>G (p.Gln4Arg)
|
|
|
|
NM_002860.4(ALDH18A1):c.121C>G (p.Arg41Gly)
|
rs370450551
|
|
|
NM_002860.4(ALDH18A1):c.121C>T (p.Arg41Cys)
|
|
|
|
NM_002860.4(ALDH18A1):c.1227dup (p.Asp410fs)
|
|
|
|
NM_002860.4(ALDH18A1):c.1233G>A (p.Leu411=)
|
|
|
|
NM_002860.4(ALDH18A1):c.1236G>C (p.Glu412Asp)
|
|
|
|
NM_002860.4(ALDH18A1):c.1237G>C (p.Glu413Gln)
|
rs147348068
|
|
|
NM_002860.4(ALDH18A1):c.1246+15A>G
|
|
|
|
NM_002860.4(ALDH18A1):c.1247-12A>G
|
|
|
|
NM_002860.4(ALDH18A1):c.1247-16C>G
|
|
|
|
NM_002860.4(ALDH18A1):c.1247-17T>A
|
rs1208309079
|
|
|
NM_002860.4(ALDH18A1):c.1253T>C (p.Leu418Pro)
|
rs201069261
|
|
|
NM_002860.4(ALDH18A1):c.1254T>C (p.Leu418=)
|
|
|
|
NM_002860.4(ALDH18A1):c.1267C>A (p.Leu423Met)
|
|
|
|
NM_002860.4(ALDH18A1):c.1275T>C (p.Arg425=)
|
|
|
|
NM_002860.4(ALDH18A1):c.1280G>A (p.Ser427Asn)
|
|
|
|
NM_002860.4(ALDH18A1):c.1290A>C (p.Thr430=)
|
|
|
|
NM_002860.4(ALDH18A1):c.1292C>A (p.Ser431Tyr)
|
|
|
|
NM_002860.4(ALDH18A1):c.1305C>T (p.Ser435=)
|
|
|
|
NM_002860.4(ALDH18A1):c.1312A>G (p.Ile438Val)
|
|
|
|
NM_002860.4(ALDH18A1):c.1321C>T (p.Arg441Ter)
|
rs145289559
|
|
|
NM_002860.4(ALDH18A1):c.1322G>A (p.Arg441Gln)
|
|
|
|
NM_002860.4(ALDH18A1):c.1330G>A (p.Ala444Thr)
|
|
|
|
NM_002860.4(ALDH18A1):c.1350C>T (p.Ser450=)
|
|
|
|
NM_002860.4(ALDH18A1):c.1357C>T (p.Arg453Cys)
|
|
|
|
NM_002860.4(ALDH18A1):c.135C>A (p.Asn45Lys)
|
|
|
|
NM_002860.4(ALDH18A1):c.1369C>T (p.Arg457Cys)
|
|
|
|
NM_002860.4(ALDH18A1):c.1370G>A (p.Arg457His)
|
rs570730665
|
|
|
NM_002860.4(ALDH18A1):c.1370G>T (p.Arg457Leu)
|
rs570730665
|
|
|
NM_002860.4(ALDH18A1):c.1371C>T (p.Arg457=)
|
|
|
|
NM_002860.4(ALDH18A1):c.1380C>A (p.Ile460=)
|
rs770247123
|
|
|
NM_002860.4(ALDH18A1):c.1385A>G (p.Lys462Arg)
|
rs886047511
|
|
|
NM_002860.4(ALDH18A1):c.1393G>C (p.Glu465Gln)
|
rs757876226
|
|
|
NM_002860.4(ALDH18A1):c.140C>T (p.Pro47Leu)
|
|
|
|
NM_002860.4(ALDH18A1):c.1411G>A (p.Val471Ile)
|
rs778369085
|
|
|
NM_002860.4(ALDH18A1):c.1411G>T (p.Val471Phe)
|
rs778369085
|
|
|
NM_002860.4(ALDH18A1):c.141G>A (p.Pro47=)
|
|
|
|
NM_002860.4(ALDH18A1):c.141G>C (p.Pro47=)
|
|
|
|
NM_002860.4(ALDH18A1):c.141G>T (p.Pro47=)
|
rs748824728
|
|
|
NM_002860.4(ALDH18A1):c.1447C>T (p.Arg483Cys)
|
|
|
|
NM_002860.4(ALDH18A1):c.1457G>A (p.Cys486Tyr)
|
|
|
|
NM_002860.4(ALDH18A1):c.1463C>T (p.Pro488Leu)
|
|
|
|
NM_002860.4(ALDH18A1):c.1467+12C>T
|
|
|
|
NM_002860.4(ALDH18A1):c.1467+18G>A
|
|
|
|
NM_002860.4(ALDH18A1):c.1468-19C>T
|
|
|
|
NM_002860.4(ALDH18A1):c.1468-2A>C
|
|
|
|
NM_002860.4(ALDH18A1):c.1473A>T (p.Ala491=)
|
rs1374293487
|
|
|
NM_002860.4(ALDH18A1):c.1474G>A (p.Ala492Thr)
|
rs2139552444
|
|
|
NM_002860.4(ALDH18A1):c.1474G>C (p.Ala492Pro)
|
|
|
|
NM_002860.4(ALDH18A1):c.1492G>A (p.Gly498Ser)
|
|
|
|
NM_002860.4(ALDH18A1):c.1503G>A (p.Leu501=)
|
rs77717600
|
|
|
NM_002860.4(ALDH18A1):c.1506A>G (p.Leu502=)
|
|
|
|
NM_002860.4(ALDH18A1):c.1509C>A (p.Leu503=)
|
|
|
|
NM_002860.4(ALDH18A1):c.1514G>A (p.Gly505Glu)
|
|
|
|
NM_002860.4(ALDH18A1):c.1517G>T (p.Gly506Val)
|
|
|
|
NM_002860.4(ALDH18A1):c.1521_1522delinsTA (p.Lys507_Glu508delinsAsnLys)
|
|
|
|
NM_002860.4(ALDH18A1):c.1524G>A (p.Glu508=)
|
|
|
|
NM_002860.4(ALDH18A1):c.1537A>T (p.Asn513Tyr)
|
|
|
|
NM_002860.4(ALDH18A1):c.1541G>A (p.Arg514Gln)
|
|
|
|
NM_002860.4(ALDH18A1):c.1549C>T (p.His517Tyr)
|
|
|
|
NM_002860.4(ALDH18A1):c.1551C>A (p.His517Gln)
|
rs185313265
|
|
|
NM_002860.4(ALDH18A1):c.1551C>T (p.His517=)
|
|
|
|
NM_002860.4(ALDH18A1):c.155C>T (p.Pro52Leu)
|
rs140745368
|
|
|
NM_002860.4(ALDH18A1):c.1564_1565delinsTT (p.Glu522Leu)
|
|
|
|
NM_002860.4(ALDH18A1):c.1567G>C (p.Ala523Pro)
|
|
|
|
NM_002860.4(ALDH18A1):c.1567G>T (p.Ala523Ser)
|
|
|
|
NM_002860.4(ALDH18A1):c.1576A>G (p.Ile526Val)
|
|
|
|
NM_002860.4(ALDH18A1):c.157C>G (p.Leu53Val)
|
|
|
|
NM_002860.4(ALDH18A1):c.1590G>A (p.Lys530=)
|
|
|
|
NM_002860.4(ALDH18A1):c.1594G>A (p.Ala532Thr)
|
|
|
|
NM_002860.4(ALDH18A1):c.1595C>T (p.Ala532Val)
|
|
|
|
NM_002860.4(ALDH18A1):c.1596_1600del (p.Val533fs)
|
rs2097844381
|
|
|
NM_002860.4(ALDH18A1):c.1605+11G>C
|
|
|
|
NM_002860.4(ALDH18A1):c.1605+16T>C
|
|
|
|
NM_002860.4(ALDH18A1):c.1606-13T>C
|
|
|
|
NM_002860.4(ALDH18A1):c.1606-15T>C
|
rs2139542064
|
|
|
NM_002860.4(ALDH18A1):c.1606-18del
|
rs532582192
|
|
|
NM_002860.4(ALDH18A1):c.1606-19_1606-15del
|
|
|
|
NM_002860.4(ALDH18A1):c.1606-7T>C
|
|
|
|
NM_002860.4(ALDH18A1):c.1617A>C (p.Arg539Ser)
|
|
|
|
NM_002860.4(ALDH18A1):c.1624G>A (p.Val542Ile)
|
rs552325165
|
|
|
NM_002860.4(ALDH18A1):c.1632T>A (p.Asp544Glu)
|
|
|
|
NM_002860.4(ALDH18A1):c.1639C>T (p.Arg547Cys)
|
|
|
|
NM_002860.4(ALDH18A1):c.163C>T (p.Arg55Cys)
|
|
|
|
NM_002860.4(ALDH18A1):c.1640G>A (p.Arg547His)
|
|
|
|
NM_002860.4(ALDH18A1):c.1653G>T (p.Met551Ile)
|
|
|
|
NM_002860.4(ALDH18A1):c.1655T>C (p.Ile552Thr)
|
|
|
|
NM_002860.4(ALDH18A1):c.1664T>A (p.Ile555Asn)
|
|
|
|
NM_002860.4(ALDH18A1):c.1672C>G (p.Arg558Gly)
|
|
|
|
NM_002860.4(ALDH18A1):c.1673G>A (p.Arg558His)
|
|
|
|
NM_002860.4(ALDH18A1):c.1685A>G (p.Gln562Arg)
|
|
|
|
NM_002860.4(ALDH18A1):c.1687C>T (p.Leu563=)
|
|
|
|
NM_002860.4(ALDH18A1):c.1690G>A (p.Val564Ile)
|
rs2097840471
|
|
|
NM_002860.4(ALDH18A1):c.1691T>C (p.Val564Ala)
|
|
|
|
NM_002860.4(ALDH18A1):c.16T>C (p.Tyr6His)
|
|
|
|
NM_002860.4(ALDH18A1):c.1703A>G (p.Gln568Arg)
|
|
|
|
NM_002860.4(ALDH18A1):c.1703A>T (p.Gln568Leu)
|
|
|
|
NM_002860.4(ALDH18A1):c.1713dup (p.Lys572Ter)
|
|
|
|
NM_002860.4(ALDH18A1):c.1729A>G (p.Met577Val)
|
|
|
|
NM_002860.4(ALDH18A1):c.1737C>T (p.His579=)
|
|
|
|
NM_002860.4(ALDH18A1):c.1739G>A (p.Ser580Asn)
|
|
|
|
NM_002860.4(ALDH18A1):c.1740C>G (p.Ser580Arg)
|
rs139035272
|
|
|
NM_002860.4(ALDH18A1):c.1740C>T (p.Ser580=)
|
rs139035272
|
|
|
NM_002860.4(ALDH18A1):c.1771G>A (p.Glu591Lys)
|
|
|
|
NM_002860.4(ALDH18A1):c.1773G>T (p.Glu591Asp)
|
|
|
|
NM_002860.4(ALDH18A1):c.1777A>G (p.Ser593Gly)
|
rs1231068982
|
|
|
NM_002860.4(ALDH18A1):c.1778G>C (p.Ser593Thr)
|
|
|
|
NM_002860.4(ALDH18A1):c.1780G>A (p.Val594Ile)
|
|
|
|
NM_002860.4(ALDH18A1):c.1784A>G (p.Asp595Gly)
|
|
|
|
NM_002860.4(ALDH18A1):c.1784A>T (p.Asp595Val)
|
|
|
|
NM_002860.4(ALDH18A1):c.1788G>T (p.Lys596Asn)
|
rs764910330
|
|
|
NM_002860.4(ALDH18A1):c.1795del (p.Arg599fs)
|
|
|
|
NM_002860.4(ALDH18A1):c.1798C>G (p.Leu600Val)
|
rs1755139847
|
|
|
NM_002860.4(ALDH18A1):c.1801+10A>G
|
|
|
|
NM_002860.4(ALDH18A1):c.1802-20C>A
|
|
|
|
NM_002860.4(ALDH18A1):c.1802-20C>G
|
|
|
|
NM_002860.4(ALDH18A1):c.1802-21_1802-17del
|
|
|
|
NM_002860.4(ALDH18A1):c.1804del (p.Arg602fs)
|
|
|
|
NM_002860.4(ALDH18A1):c.1827A>T (p.Pro609=)
|
|
|
|
NM_002860.4(ALDH18A1):c.1864C>G (p.Arg622Gly)
|
|
|
|
NM_002860.4(ALDH18A1):c.1875C>A (p.Leu625=)
|
|
|
|
NM_002860.4(ALDH18A1):c.1894C>A (p.Gln632Lys)
|
|
|
|
NM_002860.4(ALDH18A1):c.1897A>G (p.Ile633Val)
|
|
|
|
NM_002860.4(ALDH18A1):c.190C>T (p.Arg64Cys)
|
|
|
|
NM_002860.4(ALDH18A1):c.1910T>C (p.Leu637Pro)
|
rs869320690
|
|
|
NM_002860.4(ALDH18A1):c.1915G>A (p.Val639Met)
|
|
|
|
NM_002860.4(ALDH18A1):c.1917G>A (p.Val639=)
|
|
|
|
NM_002860.4(ALDH18A1):c.191G>A (p.Arg64His)
|
|
|
|
NM_002860.4(ALDH18A1):c.1923+13T>C
|
|
|
|
NM_002860.4(ALDH18A1):c.1924-11del
|
|
|
|
NM_002860.4(ALDH18A1):c.1924G>C (p.Val642Leu)
|
|
|
|
NM_002860.4(ALDH18A1):c.1926A>G (p.Val642=)
|
rs2139530896
|
|
|
NM_002860.4(ALDH18A1):c.1931T>A (p.Ile644Asn)
|
|
|
|
NM_002860.4(ALDH18A1):c.1936G>C (p.Ala646Pro)
|
rs2097834259
|
|
|
NM_002860.4(ALDH18A1):c.1940G>A (p.Gly647Asp)
|
rs2139530815
|
|
|
NM_002860.4(ALDH18A1):c.1953C>T (p.Ala651=)
|
|
|
|
NM_002860.4(ALDH18A1):c.1956C>T (p.Ser652=)
|
|
|
|
NM_002860.4(ALDH18A1):c.1958A>C (p.Tyr653Ser)
|
|
|
|
NM_002860.4(ALDH18A1):c.195T>C (p.Ser65=)
|
|
|
|
NM_002860.4(ALDH18A1):c.1985A>G (p.Lys662Arg)
|
rs1250411325
|
|
|
NM_002860.4(ALDH18A1):c.1991T>C (p.Leu664Pro)
|
|
|
|
NM_002860.4(ALDH18A1):c.1993C>T (p.Arg665Ter)
|
|
|
|
NM_002860.4(ALDH18A1):c.1994G>A (p.Arg665Gln)
|
|
|
|
NM_002860.4(ALDH18A1):c.1994G>T (p.Arg665Leu)
|
rs766264810
|
|
|
NM_002860.4(ALDH18A1):c.19C>T (p.Arg7Cys)
|
|
|
|
NM_002860.4(ALDH18A1):c.2007G>A (p.Gly669=)
|
|
|
|
NM_002860.4(ALDH18A1):c.2024T>C (p.Ile675Thr)
|
rs989031241
|
|
|
NM_002860.4(ALDH18A1):c.2028A>G (p.Glu676=)
|
rs1327684346
|
|
|
NM_002860.4(ALDH18A1):c.2032G>A (p.Val678Met)
|
|
|
|
NM_002860.4(ALDH18A1):c.2039A>G (p.Asn680Ser)
|
rs2139530277
|
|
|
NM_002860.4(ALDH18A1):c.2041G>T (p.Val681Phe)
|
|
|
|
NM_002860.4(ALDH18A1):c.2045A>G (p.Gln682Arg)
|
|
|
|
NM_002860.4(ALDH18A1):c.204G>C (p.Lys68Asn)
|
rs768807587
|
|
|
NM_002860.4(ALDH18A1):c.2051C>A (p.Ala684Asp)
|
|
|
|
NM_002860.4(ALDH18A1):c.2054T>C (p.Ile685Thr)
|
rs2139530175
|
|
|
NM_002860.4(ALDH18A1):c.2064C>T (p.Ile688=)
|
|
|
|
NM_002860.4(ALDH18A1):c.2067C>G (p.His689Gln)
|
|
|
|
NM_002860.4(ALDH18A1):c.2078G>C (p.Ser693Thr)
|
|
|
|
NM_002860.4(ALDH18A1):c.2081C>T (p.Ser694Phe)
|
|
|
|
NM_002860.4(ALDH18A1):c.2085C>T (p.His695=)
|
|
|
|
NM_002860.4(ALDH18A1):c.2087C>T (p.Thr696Met)
|
|
|
|
NM_002860.4(ALDH18A1):c.2088G>A (p.Thr696=)
|
|
|
|
NM_002860.4(ALDH18A1):c.2090A>T (p.Asp697Val)
|
|
|
|
NM_002860.4(ALDH18A1):c.2094C>A (p.Val698=)
|
|
|
|
NM_002860.4(ALDH18A1):c.2094C>T (p.Val698=)
|
|
|
|
NM_002860.4(ALDH18A1):c.2097C>T (p.Ile699=)
|
|
|
|
NM_002860.4(ALDH18A1):c.2098G>T (p.Val700Phe)
|
rs375705932
|
|
|
NM_002860.4(ALDH18A1):c.20G>A (p.Arg7His)
|
|
|
|
NM_002860.4(ALDH18A1):c.20G>C (p.Arg7Pro)
|
rs753553298
|
|
|
NM_002860.4(ALDH18A1):c.2110+10C>T
|
|
|
|
NM_002860.4(ALDH18A1):c.2110+12G>A
|
|
|
|
NM_002860.4(ALDH18A1):c.2110+15G>A
|
|
|
|
NM_002860.4(ALDH18A1):c.2110+16C>T
|
|
|
|
NM_002860.4(ALDH18A1):c.2111-12_2111-10del
|
|
|
|
NM_002860.4(ALDH18A1):c.2111-14T>C
|
|
|
|
NM_002860.4(ALDH18A1):c.2111-5T>C
|
|
|
|
NM_002860.4(ALDH18A1):c.2111-7C>A
|
rs542177817
|
|
|
NM_002860.4(ALDH18A1):c.2114A>G (p.Asn705Ser)
|
rs1325485951
|
|
|
NM_002860.4(ALDH18A1):c.2117_2118del (p.Thr706fs)
|
|
|
|
NM_002860.4(ALDH18A1):c.2135A>G (p.Gln712Arg)
|
rs2097831329
|
|
|
NM_002860.4(ALDH18A1):c.2139C>T (p.His713=)
|
|
|
|
NM_002860.4(ALDH18A1):c.2148T>C (p.Ser716=)
|
|
|
|
NM_002860.4(ALDH18A1):c.2149G>A (p.Ala717Thr)
|
|
|
|
NM_002860.4(ALDH18A1):c.2182T>A (p.Ser728Thr)
|
|
|
|
NM_002860.4(ALDH18A1):c.2195G>A (p.Arg732His)
|
rs774916138
|
|
|
NM_002860.4(ALDH18A1):c.2201G>A (p.Gly734Glu)
|
|
|
|
NM_002860.4(ALDH18A1):c.2207-14A>T
|
|
|
|
NM_002860.4(ALDH18A1):c.2207-7_2207-6inv
|
|
|
|
NM_002860.4(ALDH18A1):c.220G>A (p.Val74Met)
|
|
|
|
NM_002860.4(ALDH18A1):c.220G>T (p.Val74Leu)
|
|
|
|
NM_002860.4(ALDH18A1):c.2225G>T (p.Ser742Ile)
|
rs765567477
|
|
|
NM_002860.4(ALDH18A1):c.2230T>A (p.Ser744Thr)
|
|
|
|
NM_002860.4(ALDH18A1):c.2231C>G (p.Ser744Trp)
|
rs762271422
|
|
|
NM_002860.4(ALDH18A1):c.2231C>T (p.Ser744Leu)
|
rs762271422
|
|
|
NM_002860.4(ALDH18A1):c.2232G>C (p.Ser744=)
|
rs148601288
|
|
|
NM_002860.4(ALDH18A1):c.223G>T (p.Val75Leu)
|
|
|
|
NM_002860.4(ALDH18A1):c.2241C>T (p.His747=)
|
|
|
|
NM_002860.4(ALDH18A1):c.2257G>A (p.Gly753Arg)
|
rs2139513759
|
|
|
NM_002860.4(ALDH18A1):c.2260C>T (p.Leu754Phe)
|
rs2139513721
|
|
|
NM_002860.4(ALDH18A1):c.2270T>G (p.Leu757Arg)
|
rs2139513699
|
|
|
NM_002860.4(ALDH18A1):c.2277T>C (p.Thr759=)
|
|
|
|
NM_002860.4(ALDH18A1):c.2278A>G (p.Thr760Ala)
|
|
|
|
NM_002860.4(ALDH18A1):c.2279C>G (p.Thr760Ser)
|
|
|
|
NM_002860.4(ALDH18A1):c.2279C>T (p.Thr760Ile)
|
|
|
|
NM_002860.4(ALDH18A1):c.227A>G (p.Lys76Arg)
|
|
|
|
NM_002860.4(ALDH18A1):c.22T>A (p.Cys8Ser)
|
|
|
|
NM_002860.4(ALDH18A1):c.22T>C (p.Cys8Arg)
|
rs2139670118
|
|
|
NM_002860.4(ALDH18A1):c.2307C>T (p.His769=)
|
|
|
|
NM_002860.4(ALDH18A1):c.2312T>C (p.Val771Ala)
|
|
|
|
NM_002860.4(ALDH18A1):c.2329C>A (p.His777Asn)
|
|
|
|
NM_002860.4(ALDH18A1):c.2329C>T (p.His777Tyr)
|
rs553385013
|
|
|
NM_002860.4(ALDH18A1):c.232G>A (p.Gly78Ser)
|
|
|
|
NM_002860.4(ALDH18A1):c.2339T>C (p.Leu780Ser)
|
|
|
|
NM_002860.4(ALDH18A1):c.2345A>C (p.Tyr782Ser)
|
rs774047299
|
|
|
NM_002860.4(ALDH18A1):c.2353G>A (p.Glu785Lys)
|
|
|
|
NM_002860.4(ALDH18A1):c.235A>G (p.Ser79Gly)
|
|
|
|
NM_002860.4(ALDH18A1):c.2365A>G (p.Ile789Val)
|
|
|
|
NM_002860.4(ALDH18A1):c.2370T>G (p.Pro790=)
|
|
|
|
NM_002860.4(ALDH18A1):c.250C>T (p.Arg84Ter)
|
|
|
|
NM_002860.4(ALDH18A1):c.251G>C (p.Arg84Pro)
|
|
|
|
NM_002860.4(ALDH18A1):c.254G>A (p.Gly85Glu)
|
|
|
|
NM_002860.4(ALDH18A1):c.255G>T (p.Gly85=)
|
|
|
|
NM_002860.4(ALDH18A1):c.256G>A (p.Asp86Asn)
|
|
|
|
NM_002860.4(ALDH18A1):c.259G>A (p.Glu87Lys)
|
|
|
|
NM_002860.4(ALDH18A1):c.264T>C (p.Cys88=)
|
rs537733180
|
|
|
NM_002860.4(ALDH18A1):c.265G>A (p.Gly89Ser)
|
rs1085307589
|
|
|
NM_002860.4(ALDH18A1):c.26G>T (p.Gly9Val)
|
rs2139670109
|
|
|
NM_002860.4(ALDH18A1):c.279G>A (p.Gly93=)
|
|
|
|
NM_002860.4(ALDH18A1):c.280C>T (p.Arg94Cys)
|
rs2139642020
|
|
|
NM_002860.4(ALDH18A1):c.281G>A (p.Arg94His)
|
|
|
|
NM_002860.4(ALDH18A1):c.293T>C (p.Ile98Thr)
|
|
|
|
NM_002860.4(ALDH18A1):c.295G>A (p.Val99Ile)
|
|
|
|
NM_002860.4(ALDH18A1):c.299A>C (p.Glu100Ala)
|
|
|
|
NM_002860.4(ALDH18A1):c.300G>A (p.Glu100=)
|
|
|
|
NM_002860.4(ALDH18A1):c.303+10A>T
|
|
|
|
NM_002860.4(ALDH18A1):c.303+12G>A
|
|
|
|
NM_002860.4(ALDH18A1):c.303+15A>G
|
|
|
|
NM_002860.4(ALDH18A1):c.303+4_303+7dup
|
rs772902503
|
|
|
NM_002860.4(ALDH18A1):c.304-3del
|
|
|
|
NM_002860.4(ALDH18A1):c.304-8A>G
|
rs371815111
|
|
|
NM_002860.4(ALDH18A1):c.339del (p.Met113fs)
|
|
|
|
NM_002860.4(ALDH18A1):c.33G>C (p.Gln11His)
|
rs2097913334
|
|
|
NM_002860.4(ALDH18A1):c.34C>G (p.Pro12Ala)
|
|
|
|
NM_002860.4(ALDH18A1):c.357C>G (p.Ala119=)
|
rs767594147
|
|
|
NM_002860.4(ALDH18A1):c.359T>C (p.Val120Ala)
|
rs863224945
|
|
|
NM_002860.4(ALDH18A1):c.366T>C (p.Phe122=)
|
rs2139622090
|
|
|
NM_002860.4(ALDH18A1):c.371A>G (p.Lys124Arg)
|
|
|
|
NM_002860.4(ALDH18A1):c.376C>T (p.Arg126Cys)
|
|
|
|
NM_002860.4(ALDH18A1):c.382C>T (p.Arg128Cys)
|
|
|
|
NM_002860.4(ALDH18A1):c.407G>A (p.Ser136Asn)
|
|
|
|
NM_002860.4(ALDH18A1):c.408C>A (p.Ser136Arg)
|
|
|
|
NM_002860.4(ALDH18A1):c.408C>T (p.Ser136=)
|
|
|
|
NM_002860.4(ALDH18A1):c.409G>A (p.Val137Met)
|
|
|
|
NM_002860.4(ALDH18A1):c.40A>G (p.Asn14Asp)
|
|
|
|
NM_002860.4(ALDH18A1):c.412C>T (p.Arg138Trp)
|
rs863225044
|
|
|
NM_002860.4(ALDH18A1):c.413G>A (p.Arg138Gln)
|
rs863225045
|
|
|
NM_002860.4(ALDH18A1):c.41A>G (p.Asn14Ser)
|
|
|
|
NM_002860.4(ALDH18A1):c.428C>T (p.Ser143Leu)
|
rs1302919102
|
|
|
NM_002860.4(ALDH18A1):c.42C>T (p.Asn14=)
|
|
|
|
NM_002860.4(ALDH18A1):c.448G>A (p.Glu150Lys)
|
|
|
|
NM_002860.4(ALDH18A1):c.453+13del
|
rs773804418
|
|
|
NM_002860.4(ALDH18A1):c.453+14C>G
|
|
|
|
NM_002860.4(ALDH18A1):c.454-12G>C
|
|
|
|
NM_002860.4(ALDH18A1):c.467T>G (p.Leu156Ter)
|
|
|
|
NM_002860.4(ALDH18A1):c.469G>C (p.Glu157Gln)
|
|
|
|
NM_002860.4(ALDH18A1):c.475C>A (p.Arg159=)
|
|
|
|
NM_002860.4(ALDH18A1):c.478G>T (p.Ala160Ser)
|
rs2139621272
|
|
|
NM_002860.4(ALDH18A1):c.492C>G (p.Ala164=)
|
|
|
|
NM_002860.4(ALDH18A1):c.493G>A (p.Gly165Arg)
|
rs2139621221
|
|
|
NM_002860.4(ALDH18A1):c.49C>A (p.Leu17Ile)
|
rs2139670010
|
|
|
NM_002860.4(ALDH18A1):c.522G>A (p.Glu174=)
|
rs1240158166
|
|
|
NM_002860.4(ALDH18A1):c.526A>G (p.Met176Val)
|
|
|
|
NM_002860.4(ALDH18A1):c.545del (p.Ile182fs)
|
|
|
|
NM_002860.4(ALDH18A1):c.553_554delinsTT (p.Ala185Phe)
|
|
|
|
NM_002860.4(ALDH18A1):c.555C>G (p.Ala185=)
|
|
|
|
NM_002860.4(ALDH18A1):c.558+18G>T
|
rs2139620979
|
|
|
NM_002860.4(ALDH18A1):c.559-12T>C
|
|
|
|
NM_002860.4(ALDH18A1):c.565G>C (p.Val189Leu)
|
|
|
|
NM_002860.4(ALDH18A1):c.572A>C (p.Asn191Thr)
|
rs747052164
|
|
|
NM_002860.4(ALDH18A1):c.601C>T (p.Arg201Trp)
|
|
|
|
NM_002860.4(ALDH18A1):c.604A>T (p.Asn202Tyr)
|
|
|
|
NM_002860.4(ALDH18A1):c.618A>G (p.Thr206=)
|
|
|
|
NM_002860.4(ALDH18A1):c.619C>G (p.Leu207Val)
|
|
|
|
NM_002860.4(ALDH18A1):c.634A>G (p.Arg212Gly)
|
|
|
|
NM_002860.4(ALDH18A1):c.642C>T (p.Asn214=)
|
rs1589534526
|
|
|
NM_002860.4(ALDH18A1):c.648C>A (p.Val216=)
|
|
|
|
NM_002860.4(ALDH18A1):c.64A>G (p.Lys22Glu)
|
|
|
|
NM_002860.4(ALDH18A1):c.653T>C (p.Ile218Thr)
|
|
|
|
NM_002860.4(ALDH18A1):c.678C>A (p.Val226=)
|
|
|
|
NM_002860.4(ALDH18A1):c.680C>G (p.Pro227Arg)
|
|
|
|
NM_002860.4(ALDH18A1):c.681C>T (p.Pro227=)
|
|
|
|
NM_002860.4(ALDH18A1):c.684dup (p.Ala229fs)
|
|
|
|
NM_002860.4(ALDH18A1):c.687T>C (p.Ala229=)
|
|
|
|
NM_002860.4(ALDH18A1):c.695A>G (p.Asn232Ser)
|
|
|
|
NM_002860.4(ALDH18A1):c.709G>T (p.Gly237Trp)
|
rs201841420
|
|
|
NM_002860.4(ALDH18A1):c.712G>T (p.Val238Leu)
|
|
|
|
NM_002860.4(ALDH18A1):c.714A>G (p.Val238=)
|
|
|
|
NM_002860.4(ALDH18A1):c.715A>G (p.Asn239Asp)
|
rs2139609482
|
|
|
NM_002860.4(ALDH18A1):c.717+13T>C
|
|
|
|
NM_002860.4(ALDH18A1):c.717+9A>C
|
|
|
|
NM_002860.4(ALDH18A1):c.718-11C>G
|
|
|
|
NM_002860.4(ALDH18A1):c.718-14A>G
|
|
|
|
NM_002860.4(ALDH18A1):c.718-20C>T
|
rs1488774481
|
|
|
NM_002860.4(ALDH18A1):c.718-3T>C
|
|
|
|
NM_002860.4(ALDH18A1):c.718-7A>C
|
rs1230591674
|
|
|
NM_002860.4(ALDH18A1):c.718G>C (p.Val240Leu)
|
rs2139608040
|
|
|
NM_002860.4(ALDH18A1):c.721A>G (p.Ile241Val)
|
|
|
|
NM_002860.4(ALDH18A1):c.727G>C (p.Val243Leu)
|
rs864321669
|
|
|
NM_002860.4(ALDH18A1):c.731A>G (p.Lys244Arg)
|
rs2139607977
|
|
|
NM_002860.4(ALDH18A1):c.732_737del (p.Lys244_Asp245del)
|
|
|
|
NM_002860.4(ALDH18A1):c.73A>G (p.Thr25Ala)
|
|
|
|
NM_002860.4(ALDH18A1):c.741del (p.Asp247fs)
|
rs1555262375
|
|
|
NM_002860.4(ALDH18A1):c.743G>A (p.Ser248Asn)
|
rs2097873418
|
|
|
NM_002860.4(ALDH18A1):c.748G>A (p.Ala250Thr)
|
|
|
|
NM_002860.4(ALDH18A1):c.754C>G (p.Arg252Gly)
|
|
|
|
NM_002860.4(ALDH18A1):c.755G>A (p.Arg252Gln)
|
rs864321670
|
|
|
NM_002860.4(ALDH18A1):c.762T>A (p.Ala254=)
|
|
|
|
NM_002860.4(ALDH18A1):c.763G>T (p.Val255Leu)
|
|
|
|
NM_002860.4(ALDH18A1):c.781C>G (p.Leu261Val)
|
|
|
|
NM_002860.4(ALDH18A1):c.782T>C (p.Leu261Pro)
|
|
|
|
NM_002860.4(ALDH18A1):c.808+3A>G
|
|
|
|
NM_002860.4(ALDH18A1):c.809-15_809-14del
|
|
|
|
NM_002860.4(ALDH18A1):c.809-17T>G
|
|
|
|
NM_002860.4(ALDH18A1):c.809-18C>T
|
rs778442273
|
|
|
NM_002860.4(ALDH18A1):c.809-1G>A
|
rs1202802893
|
|
|
NM_002860.4(ALDH18A1):c.809-1G>C
|
rs1202802893
|
|
|
NM_002860.4(ALDH18A1):c.809-8T>C
|
rs1405015772
|
|
|
NM_002860.4(ALDH18A1):c.810C>G (p.Gly270=)
|
rs1317039662
|
|
|
NM_002860.4(ALDH18A1):c.819C>T (p.Asp273=)
|
rs752470665
|
|
|
NM_002860.4(ALDH18A1):c.826C>T (p.Pro276Ser)
|
rs372092118
|
|
|
NM_002860.4(ALDH18A1):c.836A>G (p.Asp279Gly)
|
|
|
|
NM_002860.4(ALDH18A1):c.837T>C (p.Asp279=)
|
|
|
|
NM_002860.4(ALDH18A1):c.839A>G (p.Asp280Gly)
|
|
|
|
NM_002860.4(ALDH18A1):c.839A>T (p.Asp280Val)
|
rs981914821
|
|
|
NM_002860.4(ALDH18A1):c.856A>G (p.Ile286Val)
|
|
|
|
NM_002860.4(ALDH18A1):c.867C>T (p.Pro289=)
|
|
|
|
NM_002860.4(ALDH18A1):c.86C>T (p.Ser29Phe)
|
|
|
|
NM_002860.4(ALDH18A1):c.87T>G (p.Ser29=)
|
rs2097913253
|
|
|
NM_002860.4(ALDH18A1):c.88+13G>C
|
|
|
|
NM_002860.4(ALDH18A1):c.88+19T>G
|
|
|
|
NM_002860.4(ALDH18A1):c.887C>A (p.Thr296Lys)
|
rs768985400
|
|
|
NM_002860.4(ALDH18A1):c.89-12T>G
|
|
|
|
NM_002860.4(ALDH18A1):c.89-14T>G
|
|
|
|
NM_002860.4(ALDH18A1):c.89-1G>C
|
rs2139642879
|
|
|
NM_002860.4(ALDH18A1):c.89-3C>T
|
|
|
|
NM_002860.4(ALDH18A1):c.89-6C>G
|
rs2097895286
|
|
|
NM_002860.4(ALDH18A1):c.89-9T>C
|
|
|
|
NM_002860.4(ALDH18A1):c.917G>T (p.Gly306Val)
|
|
|
|
NM_002860.4(ALDH18A1):c.928_929delinsAT (p.Ala310Ile)
|
|
|
|
NM_002860.4(ALDH18A1):c.933+19_933+20insAAGAATCTGGTGCCTTACACGTATGTTTATTGCGGCACTATTCACAATAGCAAAGACTTGGAACCAACCCAAATGTCCAACAATGATAAGATNNNNNNNNNNAAAAAAAAAAAAAAAAAAAA
|
|
|
|
NM_002860.4(ALDH18A1):c.933+1G>A
|
rs2139593958
|
|
|
NM_002860.4(ALDH18A1):c.933+6A>C
|
|
|
|
NM_002860.4(ALDH18A1):c.945C>A (p.Ala315=)
|
|
|
|
NM_002860.4(ALDH18A1):c.945C>T (p.Ala315=)
|
rs566528582
|
|
|
NM_002860.4(ALDH18A1):c.946C>G (p.Leu316Val)
|
|
|
|
NM_002860.4(ALDH18A1):c.95T>C (p.Ile32Thr)
|
|
|
|
NM_002860.4(ALDH18A1):c.965G>T (p.Gly322Val)
|
|
|
|
NM_002860.4(ALDH18A1):c.967A>G (p.Thr323Ala)
|
|
|
|
NM_002860.4(ALDH18A1):c.973G>T (p.Val325Phe)
|
rs192770256
|
|
|
NM_002860.4(ALDH18A1):c.973GTT[1] (p.Val326del)
|
|
|
|
NM_002860.4(ALDH18A1):c.994C>T (p.His332Tyr)
|
|
|
|
NM_002861.5(PCYT2):c.1058+1G>A
|
|
|
|
NM_002861.5(PCYT2):c.175G>T (p.Asp59Tyr)
|
|
|
|
NM_002861.5(PCYT2):c.555C>A (p.Asn185Lys)
|
rs569322551
|
|
|
NM_002861.5(PCYT2):c.682G>A (p.Gly228Arg)
|
|
|
|
NM_002861.5(PCYT2):c.683G>A (p.Gly228Glu)
|
|
|
|
NM_002861.5(PCYT2):c.689T>A (p.Val230Glu)
|
|
|
|
NM_002861.5(PCYT2):c.781A>T (p.Lys261Ter)
|
|
|
|
NM_002861.5(PCYT2):c.88T>G (p.Cys30Gly)
|
|
|
|
NM_002861.5(PCYT2):c.903G>C (p.Lys301Asn)
|
|
|
|
NM_002861.5(PCYT2):c.969+5G>A
|
|
|
|
NM_003105.6(SORL1):c.1211+1G>A
|
|
|
|
NM_003119.2:c.183+1_1449+1del
|
|
|
|
NM_003119.3(SPG7):c.1553-?_1779+?del
|
|
|
|
NM_003119.3(SPG7):c.[1529C>T];[2120delTinsCCAAGTCTGTA]
|
|
|
|
NM_003119.4(SPG7):c.*222G>A
|
rs2058697421
|
|
|
NM_003119.4(SPG7):c.*587G>A
|
rs8058041
|
|
|
NM_003119.4(SPG7):c.100C>A (p.Pro34Thr)
|
|
|
|
NM_003119.4(SPG7):c.1012G>T (p.Gly338Cys)
|
|
|
|
NM_003119.4(SPG7):c.1013G>A (p.Gly338Asp)
|
|
|
|
NM_003119.4(SPG7):c.1014C>T (p.Gly338=)
|
rs576575379
|
|
|
NM_003119.4(SPG7):c.1016C>A (p.Ala339Asp)
|
|
|
|
NM_003119.4(SPG7):c.101C>T (p.Pro34Leu)
|
|
|
|
NM_003119.4(SPG7):c.1033G>C (p.Ala345Pro)
|
rs368373840
|
|
|
NM_003119.4(SPG7):c.1038_1039insAAGCTTGGCGCCAAGGTCCCAAAGGGCGCACTG (p.Leu346_Leu347insLysLeuGlyAlaLysValProLysGlyAlaLeu)
|
|
|
|
NM_003119.4(SPG7):c.1038_1039insT (p.Leu347fs)
|
|
|
|
NM_003119.4(SPG7):c.1044C>T (p.Leu348=)
|
|
|
|
NM_003119.4(SPG7):c.1044_1045insA (p.Gly349fs)
|
|
|
|
NM_003119.4(SPG7):c.1045_1046delinsAGC (p.Gly349fs)
|
rs1060503425
|
|
|
NM_003119.4(SPG7):c.1047C>A (p.Gly349=)
|
|
|
|
NM_003119.4(SPG7):c.1048C>A (p.Pro350Thr)
|
rs199789849
|
|
|
NM_003119.4(SPG7):c.1048C>G (p.Pro350Ala)
|
rs199789849
|
|
|
NM_003119.4(SPG7):c.1048C>T (p.Pro350Ser)
|
rs199789849
|
|
|
NM_003119.4(SPG7):c.1049_1077del (p.Pro350fs)
|
rs775364547
|
|
|
NM_003119.4(SPG7):c.1053C>G (p.Pro351=)
|
rs762689331
|
|
|
NM_003119.4(SPG7):c.1053del (p.Gly352fs)
|
rs760818649
|
|
|
NM_003119.4(SPG7):c.1053dup (p.Gly352fs)
|
rs760818649
|
|
|
NM_003119.4(SPG7):c.1061G>C (p.Gly354Ala)
|
rs2152403446
|
|
|
NM_003119.4(SPG7):c.1064A>G (p.Lys355Arg)
|
|
|
|
NM_003119.4(SPG7):c.106_110del (p.Pro37fs)
|
rs2152392902
|
|
|
NM_003119.4(SPG7):c.1075G>C (p.Ala359Pro)
|
rs1031614168
|
|
|
NM_003119.4(SPG7):c.1075dup (p.Ala359fs)
|
|
|
|
NM_003119.4(SPG7):c.1083G>C (p.Ala361=)
|
rs114135540
|
|
|
NM_003119.4(SPG7):c.1085T>A (p.Val362Glu)
|
rs532511374
|
|
|
NM_003119.4(SPG7):c.1085T>G (p.Val362Gly)
|
|
|
|
NM_003119.4(SPG7):c.1098_1125del (p.Val368fs)
|
rs2152403474
|
|
|
NM_003119.4(SPG7):c.1102del (p.Val368fs)
|
rs1567914229
|
|
|
NM_003119.4(SPG7):c.1116G>A (p.Ala372=)
|
|
|
|
NM_003119.4(SPG7):c.1116G>C (p.Ala372=)
|
|
|
|
NM_003119.4(SPG7):c.1120G>A (p.Ala374Thr)
|
|
|
|
NM_003119.4(SPG7):c.1123G>A (p.Gly375Ser)
|
|
|
|
NM_003119.4(SPG7):c.1124del (p.Gly375fs)
|
rs2152403519
|
|
|
NM_003119.4(SPG7):c.1135G>A (p.Val379Met)
|
rs766085257
|
|
|
NM_003119.4(SPG7):c.1149A>T (p.Gly383=)
|
rs2058351028
|
|
|
NM_003119.4(SPG7):c.1150+13G>C
|
|
|
|
NM_003119.4(SPG7):c.1150+17G>A
|
rs2058351380
|
|
|
NM_003119.4(SPG7):c.1150+9T>A
|
|
|
|
NM_003119.4(SPG7):c.1151-14C>G
|
|
|
|
NM_003119.4(SPG7):c.1151-16C>G
|
|
|
|
NM_003119.4(SPG7):c.1151-18C>T
|
|
|
|
NM_003119.4(SPG7):c.1151-1G>C
|
|
|
|
NM_003119.4(SPG7):c.1151-7C>T
|
|
|
|
NM_003119.4(SPG7):c.1162_1177dup (p.Leu393fs)
|
rs2152403759
|
|
|
NM_003119.4(SPG7):c.1169T>C (p.Val390Ala)
|
rs2058357964
|
|
|
NM_003119.4(SPG7):c.1170del (p.Arg391fs)
|
|
|
|
NM_003119.4(SPG7):c.1171_1172dup (p.Ser392fs)
|
rs2058358025
|
|
|
NM_003119.4(SPG7):c.1175G>T (p.Ser392Ile)
|
|
|
|
NM_003119.4(SPG7):c.1181_1183dup (p.Phe394_Lys395insIle)
|
|
|
|
NM_003119.4(SPG7):c.1186G>T (p.Glu396Ter)
|
rs2058358241
|
|
|
NM_003119.4(SPG7):c.1193G>A (p.Arg398Gln)
|
rs771782004
|
|
|
NM_003119.4(SPG7):c.1193G>T (p.Arg398Leu)
|
rs771782004
|
|
|
NM_003119.4(SPG7):c.11T>C (p.Leu4Pro)
|
|
|
|
NM_003119.4(SPG7):c.1207T>A (p.Cys403Ser)
|
rs2152403786
|
|
|
NM_003119.4(SPG7):c.1217A>G (p.Tyr406Cys)
|
|
|
|
NM_003119.4(SPG7):c.1219A>C (p.Ile407Leu)
|
|
|
|
NM_003119.4(SPG7):c.1223A>G (p.Asp408Gly)
|
|
|
|
NM_003119.4(SPG7):c.1230C>A (p.Ile410=)
|
|
|
|
NM_003119.4(SPG7):c.1231G>A (p.Asp411Asn)
|
rs745444834
|
|
|
NM_003119.4(SPG7):c.1233C>T (p.Asp411=)
|
|
|
|
NM_003119.4(SPG7):c.1238T>A (p.Val413Glu)
|
rs1244749062
|
|
|
NM_003119.4(SPG7):c.1241G>A (p.Gly414Asp)
|
|
|
|
NM_003119.4(SPG7):c.1242C>T (p.Gly414=)
|
|
|
|
NM_003119.4(SPG7):c.1248G>A (p.Lys416=)
|
|
|
|
NM_003119.4(SPG7):c.1249C>T (p.Arg417Cys)
|
|
|
|
NM_003119.4(SPG7):c.124C>T (p.Pro42Ser)
|
|
|
|
NM_003119.4(SPG7):c.1251C>T (p.Arg417=)
|
|
|
|
NM_003119.4(SPG7):c.1257C>G (p.Thr419=)
|
rs766401031
|
|
|
NM_003119.4(SPG7):c.1266C>G (p.Ser422=)
|
rs767857665
|
|
|
NM_003119.4(SPG7):c.1296G>A (p.Thr432=)
|
|
|
|
NM_003119.4(SPG7):c.1301A>G (p.Asn434Ser)
|
|
|
|
NM_003119.4(SPG7):c.1303C>T (p.Gln435Ter)
|
|
|
|
NM_003119.4(SPG7):c.1305G>A (p.Gln435=)
|
rs559906913
|
|
|
NM_003119.4(SPG7):c.1310T>C (p.Leu437Pro)
|
|
|
|
NM_003119.4(SPG7):c.1324+11G>A
|
|
|
|
NM_003119.4(SPG7):c.1324+15G>A
|
|
|
|
NM_003119.4(SPG7):c.1324+19C>T
|
|
|
|
NM_003119.4(SPG7):c.1324+20G>A
|
|
|
|
NM_003119.4(SPG7):c.1324+2T>G
|
rs1597635592
|
|
|
NM_003119.4(SPG7):c.1324+7G>A
|
|
|
|
NM_003119.4(SPG7):c.1325-12_1325-11del
|
|
|
|
NM_003119.4(SPG7):c.132G>A (p.Met44Ile)
|
|
|
|
NM_003119.4(SPG7):c.132G>T (p.Met44Ile)
|
|
|
|
NM_003119.4(SPG7):c.1350C>T (p.Ile450=)
|
rs145124867
|
|
|
NM_003119.4(SPG7):c.1354C>T (p.Leu452=)
|
rs2058540705
|
|
|
NM_003119.4(SPG7):c.1358C>T (p.Ala453Val)
|
|
|
|
NM_003119.4(SPG7):c.1361C>T (p.Ser454Phe)
|
|
|
|
NM_003119.4(SPG7):c.1363A>C (p.Thr455Pro)
|
rs2152409117
|
|
|
NM_003119.4(SPG7):c.1365G>A (p.Thr455=)
|
|
|
|
NM_003119.4(SPG7):c.1387G>A (p.Gly463Ser)
|
|
|
|
NM_003119.4(SPG7):c.1393C>T (p.Leu465=)
|
|
|
|
NM_003119.4(SPG7):c.1412T>C (p.Leu471Pro)
|
|
|
|
NM_003119.4(SPG7):c.1417C>T (p.Arg473Trp)
|
|
|
|
NM_003119.4(SPG7):c.1418G>A (p.Arg473Gln)
|
|
|
|
NM_003119.4(SPG7):c.1419G>T (p.Arg473=)
|
rs764199066
|
|
|
NM_003119.4(SPG7):c.141G>A (p.Arg47=)
|
rs886052473
|
|
|
NM_003119.4(SPG7):c.1420C>T (p.His474Tyr)
|
rs1567926386
|
|
|
NM_003119.4(SPG7):c.1421A>C (p.His474Pro)
|
|
|
|
NM_003119.4(SPG7):c.1422C>G (p.His474Gln)
|
rs201482100
|
|
|
NM_003119.4(SPG7):c.1433_1441del (p.Asp478_Thr481delinsAla)
|
|
|
|
NM_003119.4(SPG7):c.1440C>A (p.Pro480=)
|
|
|
|
NM_003119.4(SPG7):c.1442C>G (p.Thr481Arg)
|
rs376713807
|
|
|
NM_003119.4(SPG7):c.1442C>T (p.Thr481Met)
|
rs376713807
|
|
|
NM_003119.4(SPG7):c.1443G>A (p.Thr481=)
|
|
|
|
NM_003119.4(SPG7):c.1449+1_1779+1del
|
|
|
|
NM_003119.4(SPG7):c.1449+6_1449+7del
|
|
|
|
NM_003119.4(SPG7):c.1450-17T>C
|
|
|
|
NM_003119.4(SPG7):c.1450-1_1457del
|
rs768823392
|
|
|
NM_003119.4(SPG7):c.1450-446_1779+746delinsAAAGTGCT
|
|
|
|
NM_003119.4(SPG7):c.1450_1459del
|
|
|
|
NM_003119.4(SPG7):c.1452_1462del (p.Glu484fs)
|
|
|
|
NM_003119.4(SPG7):c.1453A>G (p.Arg485Gly)
|
|
|
|
NM_003119.4(SPG7):c.1454_1482del (p.Arg485fs)
|
|
|
|
NM_003119.4(SPG7):c.1455G>A (p.Arg485=)
|
|
|
|
NM_003119.4(SPG7):c.1456C>T (p.Arg486Trp)
|
|
|
|
NM_003119.4(SPG7):c.1460A>C (p.Glu487Ala)
|
|
|
|
NM_003119.4(SPG7):c.146C>T (p.Pro49Leu)
|
|
|
|
NM_003119.4(SPG7):c.1471C>T (p.Gln491Ter)
|
rs1179556029
|
|
|
NM_003119.4(SPG7):c.1477dup (p.Leu493fs)
|
|
|
|
NM_003119.4(SPG7):c.1486C>G (p.Leu496Val)
|
|
|
|
NM_003119.4(SPG7):c.1486C>T (p.Leu496=)
|
|
|
|
NM_003119.4(SPG7):c.1497C>A (p.Thr499=)
|
|
|
|
NM_003119.4(SPG7):c.1498C>T (p.Gln500Ter)
|
|
|
|
NM_003119.4(SPG7):c.1508C>T (p.Thr503Ile)
|
|
|
|
NM_003119.4(SPG7):c.1528_1529delinsTT (p.Ala510Leu)
|
rs2152409901
|
|
|
NM_003119.4(SPG7):c.1535T>C (p.Leu512Pro)
|
rs2058569546
|
|
|
NM_003119.4(SPG7):c.1543G>C (p.Gly515Arg)
|
rs972175989
|
|
|
NM_003119.4(SPG7):c.1552+15C>T
|
|
|
|
NM_003119.4(SPG7):c.1552+4C>T
|
|
|
|
NM_003119.4(SPG7):c.1552+4_1552+11dup
|
|
|
|
NM_003119.4(SPG7):c.1553-4A>G
|
rs113450752
|
|
|
NM_003119.4(SPG7):c.1553-4A>T
|
|
|
|
NM_003119.4(SPG7):c.1553-5G>C
|
rs1463414333
|
|
|
NM_003119.4(SPG7):c.1553-8_1553-7del
|
rs567981282
|
|
|
NM_003119.4(SPG7):c.1555G>C (p.Ala519Pro)
|
rs1423182372
|
|
|
NM_003119.4(SPG7):c.1563C>G (p.Ile521Met)
|
|
|
|
NM_003119.4(SPG7):c.1563C>T (p.Ile521=)
|
|
|
|
NM_003119.4(SPG7):c.1564G>A (p.Ala522Thr)
|
rs540602203
|
|
|
NM_003119.4(SPG7):c.1568A>T (p.Asn523Ile)
|
rs974972989
|
|
|
NM_003119.4(SPG7):c.1584T>C (p.Ala528=)
|
|
|
|
NM_003119.4(SPG7):c.158C>G (p.Ala53Gly)
|
|
|
|
NM_003119.4(SPG7):c.1595C>G (p.Ala532Gly)
|
|
|
|
NM_003119.4(SPG7):c.1595C>T (p.Ala532Val)
|
|
|
|
NM_003119.4(SPG7):c.1603G>T (p.Glu535Ter)
|
rs2152410293
|
|
|
NM_003119.4(SPG7):c.1616C>G (p.Ser539Cys)
|
|
|
|
NM_003119.4(SPG7):c.1617del (p.Val540fs)
|
rs762795756
|
|
|
NM_003119.4(SPG7):c.161A>T (p.Glu54Val)
|
rs750617337
|
|
|
NM_003119.4(SPG7):c.1622A>G (p.His541Arg)
|
|
|
|
NM_003119.4(SPG7):c.1628_1629del (p.Leu543fs)
|
rs766155407
|
|
|
NM_003119.4(SPG7):c.1639T>G (p.Tyr547Asp)
|
rs886052474
|
|
|
NM_003119.4(SPG7):c.1641C>A (p.Tyr547Ter)
|
|
|
|
NM_003119.4(SPG7):c.1641C>T (p.Tyr547=)
|
|
|
|
NM_003119.4(SPG7):c.1642G>A (p.Ala548Thr)
|
|
|
|
NM_003119.4(SPG7):c.1645G>A (p.Val549Met)
|
|
|
|
NM_003119.4(SPG7):c.1647G>A (p.Val549=)
|
rs2152410319
|
|
|
NM_003119.4(SPG7):c.164C>A (p.Ala55Asp)
|
rs2057963306
|
|
|
NM_003119.4(SPG7):c.1651C>T (p.Arg551Cys)
|
|
|
|
NM_003119.4(SPG7):c.1652G>C (p.Arg551Pro)
|
|
|
|
NM_003119.4(SPG7):c.1663+12G>A
|
|
|
|
NM_003119.4(SPG7):c.1664-14C>T
|
|
|
|
NM_003119.4(SPG7):c.1664-17C>T
|
|
|
|
NM_003119.4(SPG7):c.1664-7C>A
|
|
|
|
NM_003119.4(SPG7):c.1668T>G (p.Thr556=)
|
|
|
|
NM_003119.4(SPG7):c.1671del (p.Lys559fs)
|
|
|
|
NM_003119.4(SPG7):c.1676del (p.Lys559fs)
|
|
|
|
NM_003119.4(SPG7):c.167G>A (p.Gly56Glu)
|
rs11559074
|
|
|
NM_003119.4(SPG7):c.1680C>T (p.Ser560=)
|
|
|
|
NM_003119.4(SPG7):c.1686C>G (p.Ile562Met)
|
|
|
|
NM_003119.4(SPG7):c.1699G>C (p.Glu567Gln)
|
|
|
|
NM_003119.4(SPG7):c.16C>T (p.Leu6=)
|
|
|
|
NM_003119.4(SPG7):c.1701A>T (p.Glu567Asp)
|
|
|
|
NM_003119.4(SPG7):c.1702_1706del (p.Gln568fs)
|
rs2152411067
|
|
|
NM_003119.4(SPG7):c.1704_1705del (p.Lys569fs)
|
rs2152411070
|
|
|
NM_003119.4(SPG7):c.1705A>C (p.Lys569Gln)
|
|
|
|
NM_003119.4(SPG7):c.1711G>T (p.Val571Phe)
|
|
|
|
NM_003119.4(SPG7):c.1712T>C (p.Val571Ala)
|
rs2152411078
|
|
|
NM_003119.4(SPG7):c.1716G>A (p.Ala572=)
|
|
|
|
NM_003119.4(SPG7):c.1719del (p.His574fs)
|
|
|
|
NM_003119.4(SPG7):c.1720C>T (p.His574Tyr)
|
rs2058623878
|
|
|
NM_003119.4(SPG7):c.1727C>G (p.Ser576Trp)
|
rs151249432
|
|
|
NM_003119.4(SPG7):c.1728G>C (p.Ser576=)
|
|
|
|
NM_003119.4(SPG7):c.1730G>C (p.Gly577Ala)
|
rs1329063851
|
|
|
NM_003119.4(SPG7):c.1737C>G (p.Ala579=)
|
rs2152411087
|
|
|
NM_003119.4(SPG7):c.1739TGG[1] (p.Val581del)
|
rs1597661607
|
|
|
NM_003119.4(SPG7):c.1740G>T (p.Leu580Phe)
|
rs115658934
|
|
|
NM_003119.4(SPG7):c.1745G>T (p.Gly582Val)
|
|
|
|
NM_003119.4(SPG7):c.1749G>C (p.Trp583Cys)
|
rs267607085
|
|
|
NM_003119.4(SPG7):c.1756G>C (p.Glu586Gln)
|
rs1035143808
|
|
|
NM_003119.4(SPG7):c.1756G>T (p.Glu586Ter)
|
|
|
|
NM_003119.4(SPG7):c.1763C>T (p.Thr588Met)
|
rs778387199
|
|
|
NM_003119.4(SPG7):c.1768G>T (p.Ala590Ser)
|
|
|
|
NM_003119.4(SPG7):c.1769C>A (p.Ala590Asp)
|
|
|
|
NM_003119.4(SPG7):c.176C>T (p.Ala59Val)
|
|
|
|
NM_003119.4(SPG7):c.1773G>C (p.Val591=)
|
|
|
|
NM_003119.4(SPG7):c.1777A>T (p.Lys593Ter)
|
rs1463225651
|
|
|
NM_003119.4(SPG7):c.1779+10G>A
|
|
|
|
NM_003119.4(SPG7):c.1779+12C>A
|
|
|
|
NM_003119.4(SPG7):c.1779+1G>T
|
|
|
|
NM_003119.4(SPG7):c.1779+5G>T
|
rs1567931957
|
|
|
NM_003119.4(SPG7):c.1780-16_1780-14del
|
rs863224213
|
|
|
NM_003119.4(SPG7):c.1796G>T (p.Arg599Leu)
|
rs149749852
|
|
|
NM_003119.4(SPG7):c.1797G>T (p.Arg599=)
|
|
|
|
NM_003119.4(SPG7):c.1803C>T (p.Asn601=)
|
|
|
|
NM_003119.4(SPG7):c.1804G>A (p.Ala602Thr)
|
|
|
|
NM_003119.4(SPG7):c.1806C>T (p.Ala602=)
|
|
|
|
NM_003119.4(SPG7):c.183+12C>A
|
|
|
|
NM_003119.4(SPG7):c.183+1_184-1del
|
|
|
|
NM_003119.4(SPG7):c.183+20G>T
|
|
|
|
NM_003119.4(SPG7):c.183+22dup
|
|
|
|
NM_003119.4(SPG7):c.184-17T>C
|
|
|
|
NM_003119.4(SPG7):c.184-19G>T
|
|
|
|
NM_003119.4(SPG7):c.184-19del
|
|
|
|
NM_003119.4(SPG7):c.184-4del
|
rs5818722
|
|
|
NM_003119.4(SPG7):c.184-5_184-4del
|
rs5818722
|
|
|
NM_003119.4(SPG7):c.1844A>G (p.His615Arg)
|
rs2152411864
|
|
|
NM_003119.4(SPG7):c.184A>C (p.Ser62Arg)
|
|
|
|
NM_003119.4(SPG7):c.1851C>G (p.Phe617Leu)
|
|
|
|
NM_003119.4(SPG7):c.1853C>T (p.Thr618Ile)
|
|
|
|
NM_003119.4(SPG7):c.1858G>C (p.Glu620Gln)
|
|
|
|
NM_003119.4(SPG7):c.1861C>T (p.Gln621Ter)
|
rs769258044
|
|
|
NM_003119.4(SPG7):c.1873C>T (p.Arg625Trp)
|
|
|
|
NM_003119.4(SPG7):c.1879T>C (p.Cys627Arg)
|
|
|
|
NM_003119.4(SPG7):c.1887C>G (p.Ala629=)
|
|
|
|
NM_003119.4(SPG7):c.1894G>A (p.Gly632Arg)
|
rs368541637
|
|
|
NM_003119.4(SPG7):c.1897C>T (p.Arg633Trp)
|
rs1350253332
|
|
|
NM_003119.4(SPG7):c.1898G>A (p.Arg633Gln)
|
|
|
|
NM_003119.4(SPG7):c.1904C>T (p.Ser635Leu)
|
rs864622507
|
|
|
NM_003119.4(SPG7):c.1905G>T (p.Ser635=)
|
|
|
|
NM_003119.4(SPG7):c.1907A>C (p.Glu636Ala)
|
|
|
|
NM_003119.4(SPG7):c.1923C>T (p.Asn641=)
|
|
|
|
NM_003119.4(SPG7):c.1927G>A (p.Val643Ile)
|
rs778965259
|
|
|
NM_003119.4(SPG7):c.192A>G (p.Gln64=)
|
|
|
|
NM_003119.4(SPG7):c.1931C>T (p.Thr644Ile)
|
rs758702550
|
|
|
NM_003119.4(SPG7):c.1936+16G>A
|
|
|
|
NM_003119.4(SPG7):c.1936+17C>T
|
|
|
|
NM_003119.4(SPG7):c.1936+2T>A
|
rs1567933730
|
|
|
NM_003119.4(SPG7):c.1936+8G>A
|
|
|
|
NM_003119.4(SPG7):c.1936+9C>T
|
|
|
|
NM_003119.4(SPG7):c.1937-10C>T
|
|
|
|
NM_003119.4(SPG7):c.1937-11C>T
|
|
|
|
NM_003119.4(SPG7):c.1937-16C>T
|
|
|
|
NM_003119.4(SPG7):c.1939del
|
rs1567934181
|
|
|
NM_003119.4(SPG7):c.193T>C (p.Leu65=)
|
|
|
|
NM_003119.4(SPG7):c.1940C>A (p.Ala647Glu)
|
rs776380988
|
|
|
NM_003119.4(SPG7):c.1940C>T (p.Ala647Val)
|
rs776380988
|
|
|
NM_003119.4(SPG7):c.1948G>T (p.Asp650Tyr)
|
rs769602042
|
|
|
NM_003119.4(SPG7):c.1955G>T (p.Arg652Met)
|
rs1433697104
|
|
|
NM_003119.4(SPG7):c.1960_1963del (p.Val654fs)
|
rs2152412161
|
|
|
NM_003119.4(SPG7):c.1967G>C (p.Arg656Pro)
|
rs373143136
|
|
|
NM_003119.4(SPG7):c.1969A>G (p.Ile657Val)
|
|
|
|
NM_003119.4(SPG7):c.1974C>G (p.Ala658=)
|
|
|
|
NM_003119.4(SPG7):c.1991A>C (p.Gln664Pro)
|
|
|
|
NM_003119.4(SPG7):c.1996G>A (p.Gly666Arg)
|
rs752989523
|
|
|
NM_003119.4(SPG7):c.1997G>T (p.Gly666Val)
|
rs1597665080
|
|
|
NM_003119.4(SPG7):c.1998del (p.Met667fs)
|
rs2058661636
|
|
|
NM_003119.4(SPG7):c.19C>T (p.Leu7=)
|
|
|
|
NM_003119.4(SPG7):c.1A>C (p.Met1Leu)
|
|
|
|
NM_003119.4(SPG7):c.1A>T (p.Met1Leu)
|
|
|
|
NM_003119.4(SPG7):c.2001G>A (p.Met667Ile)
|
|
|
|
NM_003119.4(SPG7):c.2013C>T (p.Ile671=)
|
|
|
|
NM_003119.4(SPG7):c.2021T>C (p.Ile674Thr)
|
rs2152412186
|
|
|
NM_003119.4(SPG7):c.2026T>C (p.Phe676Leu)
|
rs72547553
|
|
|
NM_003119.4(SPG7):c.2027T>C (p.Phe676Ser)
|
rs2058661946
|
|
|
NM_003119.4(SPG7):c.2047C>T (p.Leu683Phe)
|
rs769512676
|
|
|
NM_003119.4(SPG7):c.2059G>A (p.Gly687Arg)
|
|
|
|
NM_003119.4(SPG7):c.2059_2076del (p.Gly687_Ser692del)
|
rs1597665192
|
|
|
NM_003119.4(SPG7):c.2065C>T (p.Arg689Cys)
|
|
|
|
NM_003119.4(SPG7):c.2066G>A (p.Arg689His)
|
rs148199060
|
|
|
NM_003119.4(SPG7):c.2070del (p.Phe691fs)
|
rs1555617559
|
|
|
NM_003119.4(SPG7):c.2074A>G (p.Ser692Gly)
|
|
|
|
NM_003119.4(SPG7):c.2075G>C (p.Ser692Thr)
|
rs121918357
|
|
|
NM_003119.4(SPG7):c.2083C>T (p.Leu695=)
|
rs754203248
|
|
|
NM_003119.4(SPG7):c.2089C>T (p.Gln697Ter)
|
|
|
|
NM_003119.4(SPG7):c.2096T>C (p.Met699Thr)
|
|
|
|
NM_003119.4(SPG7):c.2099A>G (p.Asp700Gly)
|
|
|
|
NM_003119.4(SPG7):c.20_25dup (p.Leu7_Leu8dup)
|
rs1395154051
|
|
|
NM_003119.4(SPG7):c.2102A>C (p.His701Pro)
|
|
|
|
NM_003119.4(SPG7):c.2102A>G (p.His701Arg)
|
rs372180825
|
|
|
NM_003119.4(SPG7):c.2102A>T (p.His701Leu)
|
|
|
|
NM_003119.4(SPG7):c.2103+2_2103+20del
|
rs1743896594
|
|
|
NM_003119.4(SPG7):c.2104-12C>G
|
|
|
|
NM_003119.4(SPG7):c.2104-1G>C
|
|
|
|
NM_003119.4(SPG7):c.2104-2A>G
|
rs1567934754
|
|
|
NM_003119.4(SPG7):c.2115_2131del (p.Leu706fs)
|
rs748255454
|
|
|
NM_003119.4(SPG7):c.2123C>T (p.Ala708Val)
|
|
|
|
NM_003119.4(SPG7):c.2128G>A (p.Ala710Thr)
|
rs2152412371
|
|
|
NM_003119.4(SPG7):c.2131T>G (p.Tyr711Asp)
|
rs2058667749
|
|
|
NM_003119.4(SPG7):c.2140_2141del (p.Thr714fs)
|
|
|
|
NM_003119.4(SPG7):c.2142C>T (p.Thr714=)
|
rs201878285
|
|
|
NM_003119.4(SPG7):c.2143G>C (p.Glu715Gln)
|
|
|
|
NM_003119.4(SPG7):c.2149G>A (p.Val717Met)
|
|
|
|
NM_003119.4(SPG7):c.2161A>G (p.Asn721Asp)
|
rs2152412388
|
|
|
NM_003119.4(SPG7):c.2163C>G (p.Asn721Lys)
|
|
|
|
NM_003119.4(SPG7):c.2164del (p.Leu722fs)
|
|
|
|
NM_003119.4(SPG7):c.2166_2167insCAACAACCTG (p.Asp723fs)
|
rs2058667949
|
|
|
NM_003119.4(SPG7):c.2173T>C (p.Leu725=)
|
|
|
|
NM_003119.4(SPG7):c.2176C>G (p.Gln726Glu)
|
|
|
|
NM_003119.4(SPG7):c.2181+1G>T
|
|
|
|
NM_003119.4(SPG7):c.2181+2dup
|
|
|
|
NM_003119.4(SPG7):c.2181+5G>A
|
|
|
|
NM_003119.4(SPG7):c.2182-4C>A
|
|
|
|
NM_003119.4(SPG7):c.2192C>T (p.Ala731Val)
|
|
|
|
NM_003119.4(SPG7):c.2195T>C (p.Leu732Pro)
|
|
|
|
NM_003119.4(SPG7):c.2196del (p.Leu733fs)
|
|
|
|
NM_003119.4(SPG7):c.2197C>A (p.Leu733Met)
|
|
|
|
NM_003119.4(SPG7):c.2212dup (p.Ile738fs)
|
|
|
|
NM_003119.4(SPG7):c.2215_2217delinsTAG (p.Asn739Ter)
|
|
|
|
NM_003119.4(SPG7):c.2216dup (p.Asn739fs)
|
rs763126378
|
|
|
NM_003119.4(SPG7):c.2218T>C (p.Tyr740His)
|
|
|
|
NM_003119.4(SPG7):c.2218T>G (p.Tyr740Asp)
|
|
|
|
NM_003119.4(SPG7):c.2219A>G (p.Tyr740Cys)
|
|
|
|
NM_003119.4(SPG7):c.2240T>C (p.Ile747Thr)
|
|
|
|
NM_003119.4(SPG7):c.2241T>G (p.Ile747Met)
|
rs2152413170
|
|
|
NM_003119.4(SPG7):c.2246C>T (p.Pro749Leu)
|
|
|
|
NM_003119.4(SPG7):c.2248C>T (p.Pro750Ser)
|
|
|
|
NM_003119.4(SPG7):c.2252C>A (p.Pro751His)
|
|
|
|
NM_003119.4(SPG7):c.2261C>T (p.Pro754Leu)
|
rs758721226
|
|
|
NM_003119.4(SPG7):c.2272A>G (p.Ile758Val)
|
rs1597668767
|
|
|
NM_003119.4(SPG7):c.2279C>T (p.Pro760Leu)
|
|
|
|
NM_003119.4(SPG7):c.2281C>T (p.Gln761Ter)
|
|
|
|
NM_003119.4(SPG7):c.2290A>G (p.Ile764Val)
|
rs942740771
|
|
|
NM_003119.4(SPG7):c.2293G>C (p.Asp765His)
|
|
|
|
NM_003119.4(SPG7):c.2296G>A (p.Ala766Thr)
|
|
|
|
NM_003119.4(SPG7):c.2316C>G (p.Asp772Glu)
|
|
|
|
NM_003119.4(SPG7):c.2320G>A (p.Gly774Ser)
|
|
|
|
NM_003119.4(SPG7):c.2322C>T (p.Gly774=)
|
|
|
|
NM_003119.4(SPG7):c.2326G>T (p.Glu776Ter)
|
|
|
|
NM_003119.4(SPG7):c.232TTG[2] (p.Leu80del)
|
rs527363502
|
|
|
NM_003119.4(SPG7):c.2334C>T (p.Thr778=)
|
|
|
|
NM_003119.4(SPG7):c.2348A>G (p.Gln783Arg)
|
|
|
|
NM_003119.4(SPG7):c.2350C>T (p.Pro784Ser)
|
|
|
|
NM_003119.4(SPG7):c.2365G>A (p.Glu789Lys)
|
rs372033226
|
|
|
NM_003119.4(SPG7):c.2365G>C (p.Glu789Gln)
|
|
|
|
NM_003119.4(SPG7):c.2365G>T (p.Glu789Ter)
|
rs372033226
|
|
|
NM_003119.4(SPG7):c.2372C>G (p.Pro791Arg)
|
|
|
|
NM_003119.4(SPG7):c.2385G>A (p.Lys795=)
|
rs773216042
|
|
|
NM_003119.4(SPG7):c.2387A>G (p.Ter796Trp)
|
|
|
|
NM_003119.4(SPG7):c.244C>T (p.Gln82Ter)
|
rs146115797
|
|
|
NM_003119.4(SPG7):c.246A>G (p.Gln82=)
|
|
|
|
NM_003119.4(SPG7):c.248A>G (p.His83Arg)
|
|
|
|
NM_003119.4(SPG7):c.264A>C (p.Pro88=)
|
|
|
|
NM_003119.4(SPG7):c.270A>C (p.Arg90Ser)
|
|
|
|
NM_003119.4(SPG7):c.273_274del (p.Trp92fs)
|
|
|
|
NM_003119.4(SPG7):c.279A>C (p.Gln93His)
|
|
|
|
NM_003119.4(SPG7):c.286+1G>T
|
rs1452259575
|
|
|
NM_003119.4(SPG7):c.286+3A>G
|
rs201056405
|
|
|
NM_003119.4(SPG7):c.286+4T>A
|
|
|
|
NM_003119.4(SPG7):c.286+853A>G
|
|
|
|
NM_003119.4(SPG7):c.287-12T>C
|
|
|
|
NM_003119.4(SPG7):c.288T>G (p.Gly96=)
|
rs2058041135
|
|
|
NM_003119.4(SPG7):c.28G>A (p.Ala10Thr)
|
|
|
|
NM_003119.4(SPG7):c.28G>C (p.Ala10Pro)
|
|
|
|
NM_003119.4(SPG7):c.28G>T (p.Ala10Ser)
|
rs577872969
|
|
|
NM_003119.4(SPG7):c.292_295del (p.Thr98fs)
|
|
|
|
NM_003119.4(SPG7):c.297C>G (p.Phe99Leu)
|
|
|
|
NM_003119.4(SPG7):c.297del (p.Tyr100fs)
|
|
|
|
NM_003119.4(SPG7):c.2T>A (p.Met1Lys)
|
rs1332265538
|
|
|
NM_003119.4(SPG7):c.2T>C (p.Met1Thr)
|
|
|
|
NM_003119.4(SPG7):c.2T>G (p.Met1Arg)
|
|
|
|
NM_003119.4(SPG7):c.308C>A (p.Thr103Asn)
|
rs746764772
|
|
|
NM_003119.4(SPG7):c.30C>T (p.Ala10=)
|
|
|
|
NM_003119.4(SPG7):c.335_336insTA (p.Glu112fs)
|
|
|
|
NM_003119.4(SPG7):c.339G>A (p.Lys113=)
|
|
|
|
NM_003119.4(SPG7):c.347C>G (p.Ser116Trp)
|
|
|
|
NM_003119.4(SPG7):c.353G>A (p.Gly118Glu)
|
|
|
|
NM_003119.4(SPG7):c.355A>C (p.Lys119Gln)
|
|
|
|
NM_003119.4(SPG7):c.357G>A (p.Lys119=)
|
rs1209945253
|
|
|
NM_003119.4(SPG7):c.360G>A (p.Ala120=)
|
|
|
|
NM_003119.4(SPG7):c.360G>C (p.Ala120=)
|
rs376376359
|
|
|
NM_003119.4(SPG7):c.372C>T (p.Asp124=)
|
|
|
|
NM_003119.4(SPG7):c.375A>C (p.Glu125Asp)
|
|
|
|
NM_003119.4(SPG7):c.376+12T>C
|
|
|
|
NM_003119.4(SPG7):c.376+16G>A
|
|
|
|
NM_003119.4(SPG7):c.376+16_376+18del
|
|
|
|
NM_003119.4(SPG7):c.376+18T>A
|
rs2152394850
|
|
|
NM_003119.4(SPG7):c.376+2T>A
|
|
|
|
NM_003119.4(SPG7):c.377-39A>C
|
rs1192753029
|
|
|
NM_003119.4(SPG7):c.377-6G>A
|
rs1555611445
|
|
|
NM_003119.4(SPG7):c.377-7G>A
|
|
|
|
NM_003119.4(SPG7):c.37C>G (p.Arg13Gly)
|
rs923197967
|
|
|
NM_003119.4(SPG7):c.37C>T (p.Arg13Trp)
|
|
|
|
NM_003119.4(SPG7):c.389G>A (p.Arg130His)
|
|
|
|
NM_003119.4(SPG7):c.395A>C (p.Glu132Ala)
|
|
|
|
NM_003119.4(SPG7):c.399G>A (p.Arg133=)
|
|
|
|
NM_003119.4(SPG7):c.39_63del (p.Gly14fs)
|
rs2152392855
|
|
|
NM_003119.4(SPG7):c.3G>A (p.Met1Ile)
|
|
|
|
NM_003119.4(SPG7):c.402C>T (p.Asp134=)
|
|
|
|
NM_003119.4(SPG7):c.403G>T (p.Asp135Tyr)
|
|
|
|
NM_003119.4(SPG7):c.412_443del (p.Tyr138fs)
|
|
|
|
NM_003119.4(SPG7):c.413A>C (p.Tyr138Ser)
|
rs377268309
|
|
|
NM_003119.4(SPG7):c.425T>C (p.Leu142Pro)
|
|
|
|
NM_003119.4(SPG7):c.438G>A (p.Leu146=)
|
|
|
|
NM_003119.4(SPG7):c.439G>A (p.Val147Ile)
|
|
|
|
NM_003119.4(SPG7):c.450T>C (p.Val150=)
|
|
|
|
NM_003119.4(SPG7):c.463C>A (p.Leu155Met)
|
|
|
|
NM_003119.4(SPG7):c.466_468dup (p.Asn156_Ala157insAsn)
|
|
|
|
NM_003119.4(SPG7):c.473_474del (p.Leu158fs)
|
rs879253798
|
|
|
NM_003119.4(SPG7):c.480C>G (p.Thr160=)
|
|
|
|
NM_003119.4(SPG7):c.495T>C (p.Ile165=)
|
|
|
|
NM_003119.4(SPG7):c.495T>G (p.Ile165Met)
|
|
|
|
NM_003119.4(SPG7):c.505G>A (p.Asp169Asn)
|
|
|
|
NM_003119.4(SPG7):c.50C>G (p.Pro17Arg)
|
rs956304326
|
|
|
NM_003119.4(SPG7):c.50C>T (p.Pro17Leu)
|
|
|
|
NM_003119.4(SPG7):c.52G>A (p.Gly18Ser)
|
|
|
|
NM_003119.4(SPG7):c.535G>C (p.Glu179Gln)
|
|
|
|
NM_003119.4(SPG7):c.535G>T (p.Glu179Ter)
|
|
|
|
NM_003119.4(SPG7):c.538G>A (p.Val180Met)
|
|
|
|
NM_003119.4(SPG7):c.544C>T (p.Arg182Cys)
|
|
|
|
NM_003119.4(SPG7):c.558G>C (p.Val186=)
|
rs754129188
|
|
|
NM_003119.4(SPG7):c.560C>T (p.Pro187Leu)
|
rs2152399546
|
|
|
NM_003119.4(SPG7):c.561T>C (p.Pro187=)
|
|
|
|
NM_003119.4(SPG7):c.573G>A (p.Val191=)
|
|
|
|
NM_003119.4(SPG7):c.596del (p.Gly199fs)
|
rs752843742
|
|
|
NM_003119.4(SPG7):c.598G>A (p.Ala200Thr)
|
|
|
|
NM_003119.4(SPG7):c.5C>T (p.Ala2Val)
|
|
|
|
NM_003119.4(SPG7):c.618+11_618+68del
|
rs1555611542
|
|
|
NM_003119.4(SPG7):c.618+14_618+36del
|
|
|
|
NM_003119.4(SPG7):c.618+9G>C
|
|
|
|
NM_003119.4(SPG7):c.619-10T>C
|
|
|
|
NM_003119.4(SPG7):c.619-20C>G
|
|
|
|
NM_003119.4(SPG7):c.619-3C>G
|
rs199740629
|
|
|
NM_003119.4(SPG7):c.619-47G>A
|
rs3935626
|
|
|
NM_003119.4(SPG7):c.620G>A (p.Arg207Gln)
|
|
|
|
NM_003119.4(SPG7):c.627C>T (p.Ala209=)
|
|
|
|
NM_003119.4(SPG7):c.630G>A (p.Leu210=)
|
|
|
|
NM_003119.4(SPG7):c.654del (p.Asn218fs)
|
|
|
|
NM_003119.4(SPG7):c.657T>C (p.Ile219=)
|
|
|
|
NM_003119.4(SPG7):c.663G>C (p.Lys221Asn)
|
|
|
|
NM_003119.4(SPG7):c.66G>C (p.Leu22=)
|
rs1167383291
|
|
|
NM_003119.4(SPG7):c.672G>A (p.Glu224=)
|
|
|
|
NM_003119.4(SPG7):c.683C>G (p.Ala228Gly)
|
|
|
|
NM_003119.4(SPG7):c.694G>C (p.Glu232Gln)
|
|
|
|
NM_003119.4(SPG7):c.694del (p.Glu232fs)
|
|
|
|
NM_003119.4(SPG7):c.696G>T (p.Glu232Asp)
|
|
|
|
NM_003119.4(SPG7):c.697C>T (p.Leu233=)
|
rs751353500
|
|
|
NM_003119.4(SPG7):c.705C>T (p.Ile235=)
|
rs115244515
|
|
|
NM_003119.4(SPG7):c.711del (p.Lys238fs)
|
rs2152400490
|
|
|
NM_003119.4(SPG7):c.712A>T (p.Lys238Ter)
|
rs2152400493
|
|
|
NM_003119.4(SPG7):c.724C>A (p.Pro242Thr)
|
|
|
|
NM_003119.4(SPG7):c.730T>G (p.Ser244Ala)
|
|
|
|
NM_003119.4(SPG7):c.732C>G (p.Ser244=)
|
|
|
|
NM_003119.4(SPG7):c.73_80del (p.Pro25fs)
|
rs2152392876
|
|
|
NM_003119.4(SPG7):c.740G>A (p.Arg247Gln)
|
|
|
|
NM_003119.4(SPG7):c.746G>A (p.Gly249Glu)
|
|
|
|
NM_003119.4(SPG7):c.749del (p.Phe250fs)
|
rs1355240257
|
|
|
NM_003119.4(SPG7):c.750C>T (p.Phe250=)
|
|
|
|
NM_003119.4(SPG7):c.758+14A>G
|
|
|
|
NM_003119.4(SPG7):c.758+4T>C
|
rs2058261955
|
|
|
NM_003119.4(SPG7):c.759-11_759-8del
|
rs758385553
|
|
|
NM_003119.4(SPG7):c.759-11del
|
|
|
|
NM_003119.4(SPG7):c.759-12_759-11del
|
rs779395474
|
|
|
NM_003119.4(SPG7):c.759-15T>G
|
|
|
|
NM_003119.4(SPG7):c.759-18CT[2]
|
|
|
|
NM_003119.4(SPG7):c.759-20G>C
|
|
|
|
NM_003119.4(SPG7):c.759-5G>A
|
|
|
|
NM_003119.4(SPG7):c.762C>T (p.Ala254=)
|
|
|
|
NM_003119.4(SPG7):c.763C>T (p.Leu255=)
|
rs2058311848
|
|
|
NM_003119.4(SPG7):c.764T>A (p.Leu255Gln)
|
rs2058311875
|
|
|
NM_003119.4(SPG7):c.773_774del (p.Val258fs)
|
rs768136171
|
|
|
NM_003119.4(SPG7):c.778_782delinsCCA (p.Met260fs)
|
rs2152402048
|
|
|
NM_003119.4(SPG7):c.784G>C (p.Ala262Pro)
|
rs2152402052
|
|
|
NM_003119.4(SPG7):c.784del (p.Ala262fs)
|
|
|
|
NM_003119.4(SPG7):c.78C>A (p.Gly26=)
|
|
|
|
NM_003119.4(SPG7):c.792C>T (p.Gly264=)
|
|
|
|
NM_003119.4(SPG7):c.79_80insTG (p.Pro27fs)
|
|
|
|
NM_003119.4(SPG7):c.808del (p.Tyr270fs)
|
|
|
|
NM_003119.4(SPG7):c.80C>A (p.Pro27Gln)
|
|
|
|
NM_003119.4(SPG7):c.818G>A (p.Arg273His)
|
rs770339981
|
|
|
NM_003119.4(SPG7):c.825C>T (p.Ala275=)
|
|
|
|
NM_003119.4(SPG7):c.826G>A (p.Gly276Arg)
|
|
|
|
NM_003119.4(SPG7):c.829A>T (p.Met277Leu)
|
rs909738481
|
|
|
NM_003119.4(SPG7):c.847G>A (p.Gly283Arg)
|
rs2058313221
|
|
|
NM_003119.4(SPG7):c.850_851delinsC (p.Phe284fs)
|
rs768595656
|
|
|
NM_003119.4(SPG7):c.851T>C (p.Phe284Ser)
|
|
|
|
NM_003119.4(SPG7):c.851del (p.Phe284fs)
|
|
|
|
NM_003119.4(SPG7):c.861+10G>A
|
|
|
|
NM_003119.4(SPG7):c.861+17A>G
|
|
|
|
NM_003119.4(SPG7):c.861+18G>C
|
|
|
|
NM_003119.4(SPG7):c.861+18G>T
|
|
|
|
NM_003119.4(SPG7):c.861+19A>G
|
rs2152402127
|
|
|
NM_003119.4(SPG7):c.861+1G>T
|
rs1412575396
|
|
|
NM_003119.4(SPG7):c.861+20G>C
|
|
|
|
NM_003119.4(SPG7):c.861+6T>C
|
rs765178985
|
|
|
NM_003119.4(SPG7):c.861T>C (p.Phe287=)
|
|
|
|
NM_003119.4(SPG7):c.861del (p.Phe287fs)
|
rs797046003
|
|
|
NM_003119.4(SPG7):c.861dup (p.Asn288Ter)
|
rs797046003
|
|
|
NM_003119.4(SPG7):c.862-18T>G
|
|
|
|
NM_003119.4(SPG7):c.862-34G>T
|
rs4785690
|
|
|
NM_003119.4(SPG7):c.862-3C>T
|
|
|
|
NM_003119.4(SPG7):c.86G>A (p.Trp29Ter)
|
rs1314660313
|
|
|
NM_003119.4(SPG7):c.872A>G (p.Lys291Arg)
|
|
|
|
NM_003119.4(SPG7):c.87G>A (p.Trp29Ter)
|
rs1597597437
|
|
|
NM_003119.4(SPG7):c.90T>G (p.Ser30Arg)
|
|
|
|
NM_003119.4(SPG7):c.914G>C (p.Gly305Ala)
|
|
|
|
NM_003119.4(SPG7):c.931G>A (p.Val311Met)
|
|
|
|
NM_003119.4(SPG7):c.932T>A (p.Val311Glu)
|
rs1060503429
|
|
|
NM_003119.4(SPG7):c.932_934del (p.Val311del)
|
|
|
|
NM_003119.4(SPG7):c.933G>C (p.Val311=)
|
rs1157953850
|
|
|
NM_003119.4(SPG7):c.934dup (p.Ala312fs)
|
rs2058330715
|
|
|
NM_003119.4(SPG7):c.942G>C (p.Met314Ile)
|
|
|
|
NM_003119.4(SPG7):c.943C>T (p.His315Tyr)
|
|
|
|
NM_003119.4(SPG7):c.946G>A (p.Glu316Lys)
|
|
|
|
NM_003119.4(SPG7):c.947A>G (p.Glu316Gly)
|
|
|
|
NM_003119.4(SPG7):c.950C>T (p.Ala317Val)
|
|
|
|
NM_003119.4(SPG7):c.951C>A (p.Ala317=)
|
|
|
|
NM_003119.4(SPG7):c.958G>T (p.Glu320Ter)
|
|
|
|
NM_003119.4(SPG7):c.960del (p.Val321fs)
|
|
|
|
NM_003119.4(SPG7):c.964C>T (p.Arg322Cys)
|
rs201096554
|
|
|
NM_003119.4(SPG7):c.967G>A (p.Glu323Lys)
|
|
|
|
NM_003119.4(SPG7):c.970T>C (p.Phe324Leu)
|
|
|
|
NM_003119.4(SPG7):c.971T>C (p.Phe324Ser)
|
rs2152402791
|
|
|
NM_003119.4(SPG7):c.976_987+3del
|
rs878854606
|
|
|
NM_003119.4(SPG7):c.983T>C (p.Leu328Pro)
|
rs1555612612
|
|
|
NM_003119.4(SPG7):c.987+11C>T
|
|
|
|
NM_003119.4(SPG7):c.987+16G>T
|
|
|
|
NM_003119.4(SPG7):c.987+2T>C
|
|
|
|
NM_003119.4(SPG7):c.987+5A>C
|
rs4785691
|
|
|
NM_003119.4(SPG7):c.987+5A>G
|
rs4785691
|
|
|
NM_003119.4(SPG7):c.988-12G>C
|
|
|
|
NM_003119.4(SPG7):c.988-17T>C
|
|
|
|
NM_003119.4(SPG7):c.988-42_1046del
|
|
|
|
NM_003119.4(SPG7):c.988-7C>T
|
|
|
|
NM_003119.4(SPG7):c.99C>G (p.Phe33Leu)
|
rs1331243813
|
|
|
NM_003119.4(SPG7):c.9GCT[6] (p.Leu8dup)
|
rs781285980
|
|
|
NM_003119.4(SPG7):c.9GCT[8] (p.Leu8_Arg9insLeuLeuLeu)
|
|
|
|
NM_003119.4:c.[1049_1077del];[1045G>A]
|
|
|
|
NM_004181.5(UCHL1):c.*250T>C
|
rs564857603
|
|
|
NM_004181.5(UCHL1):c.145CTG[5] (p.Leu52_Phe53insLeu)
|
|
|
|
NM_004181.5(UCHL1):c.149T>C (p.Leu50Pro)
|
|
|
|
NM_004181.5(UCHL1):c.20A>C (p.Glu7Ala)
|
rs397515634
|
|
|
NM_004181.5(UCHL1):c.250C>T (p.Gln84Ter)
|
rs2154087189
|
|
|
NM_004181.5(UCHL1):c.260_261dup (p.Asn88fs)
|
|
|
|
NM_004181.5(UCHL1):c.30dup (p.Glu11fs)
|
|
|
|
NM_004181.5(UCHL1):c.326-4del
|
rs3214812
|
|
|
NM_004181.5(UCHL1):c.326-4dup
|
rs3214812
|
|
|
NM_004181.5(UCHL1):c.349_364del (p.Phe117fs)
|
rs1781070341
|
|
|
NM_004181.5(UCHL1):c.366_367del (p.Lys123fs)
|
|
|
|
NM_004181.5(UCHL1):c.459+2T>C
|
rs1554004931
|
|
|
NM_004181.5(UCHL1):c.603C>G (p.Cys201Trp)
|
|
|
|
NM_004181.5(UCHL1):c.647C>A (p.Ala216Asp)
|
rs1057519600
|
|
|
NM_004181.5(UCHL1):c.64dup (p.Val22fs)
|
rs1781001592
|
|
|
NM_004181.5(UCHL1):c.73C>T (p.Gln25Ter)
|
|
|
|
NM_004181.5(UCHL1):c.95_98dup (p.Leu34fs)
|
|
|
|
NM_004535.3(MYT1):c.2126C>T (p.Ala709Val)
|
rs1983951301
|
|
|
NM_004722.4(AP4M1):c.*124G>A
|
rs146258708
|
|
|
NM_004722.4(AP4M1):c.1002C>G (p.Leu334=)
|
rs140843407
|
|
|
NM_004722.4(AP4M1):c.1012del (p.Arg338fs)
|
rs2116668499
|
|
|
NM_004722.4(AP4M1):c.1015G>A (p.Gly339Arg)
|
|
|
|
NM_004722.4(AP4M1):c.1025+18C>G
|
|
|
|
NM_004722.4(AP4M1):c.1025+20A>G
|
|
|
|
NM_004722.4(AP4M1):c.1025+6T>G
|
|
|
|
NM_004722.4(AP4M1):c.1026-10C>G
|
rs746394766
|
|
|
NM_004722.4(AP4M1):c.1047C>T (p.Ser349=)
|
|
|
|
NM_004722.4(AP4M1):c.1058A>G (p.Lys353Arg)
|
|
|
|
NM_004722.4(AP4M1):c.105del (p.Lys36fs)
|
|
|
|
NM_004722.4(AP4M1):c.1075G>A (p.Gly359Arg)
|
|
|
|
NM_004722.4(AP4M1):c.1084C>T (p.Arg362Cys)
|
|
|
|
NM_004722.4(AP4M1):c.1085G>A (p.Arg362His)
|
|
|
|
NM_004722.4(AP4M1):c.1099C>T (p.Arg367Trp)
|
|
|
|
NM_004722.4(AP4M1):c.1137+16C>T
|
rs1035762525
|
|
|
NM_004722.4(AP4M1):c.1137+6C>T
|
|
|
|
NM_004722.4(AP4M1):c.1138-15C>T
|
|
|
|
NM_004722.4(AP4M1):c.1138-17G>T
|
|
|
|
NM_004722.4(AP4M1):c.1138-1G>A
|
|
|
|
NM_004722.4(AP4M1):c.1138-8C>G
|
rs773499417
|
|
|
NM_004722.4(AP4M1):c.113C>T (p.Thr38Met)
|
|
|
|
NM_004722.4(AP4M1):c.1143C>T (p.Asp381=)
|
|
|
|
NM_004722.4(AP4M1):c.1160G>A (p.Gly387Glu)
|
|
|
|
NM_004722.4(AP4M1):c.1167C>T (p.Pro389=)
|
|
|
|
NM_004722.4(AP4M1):c.1174G>T (p.Gly392Trp)
|
|
|
|
NM_004722.4(AP4M1):c.1176G>A (p.Gly392=)
|
|
|
|
NM_004722.4(AP4M1):c.1183_1196del (p.Thr395fs)
|
|
|
|
NM_004722.4(AP4M1):c.1188G>A (p.Ser396=)
|
|
|
|
NM_004722.4(AP4M1):c.1195C>T (p.Pro399Ser)
|
rs773269627
|
|
|
NM_004722.4(AP4M1):c.1203G>A (p.Gly401=)
|
|
|
|
NM_004722.4(AP4M1):c.1225T>C (p.Phe409Leu)
|
rs760907496
|
|
|
NM_004722.4(AP4M1):c.1226T>C (p.Phe409Ser)
|
|
|
|
NM_004722.4(AP4M1):c.1227C>T (p.Phe409=)
|
|
|
|
NM_004722.4(AP4M1):c.1237C>G (p.Arg413Gly)
|
rs778562405
|
|
|
NM_004722.4(AP4M1):c.1237C>T (p.Arg413Trp)
|
|
|
|
NM_004722.4(AP4M1):c.1238G>A (p.Arg413Gln)
|
rs757999633
|
|
|
NM_004722.4(AP4M1):c.1238G>T (p.Arg413Leu)
|
rs757999633
|
|
|
NM_004722.4(AP4M1):c.1242C>A (p.His414Gln)
|
|
|
|
NM_004722.4(AP4M1):c.1259A>T (p.Gln420Leu)
|
|
|
|
NM_004722.4(AP4M1):c.1265G>A (p.Arg422Gln)
|
rs150135687
|
|
|
NM_004722.4(AP4M1):c.1284C>A (p.Phe428Leu)
|
rs1443950530
|
|
|
NM_004722.4(AP4M1):c.1287G>A (p.Arg429=)
|
|
|
|
NM_004722.4(AP4M1):c.12A>T (p.Gln4His)
|
|
|
|
NM_004722.4(AP4M1):c.1308C>T (p.Pro436=)
|
|
|
|
NM_004722.4(AP4M1):c.1311C>G (p.His437Gln)
|
|
|
|
NM_004722.4(AP4M1):c.1321C>T (p.Arg441Ter)
|
rs886041126
|
|
|
NM_004722.4(AP4M1):c.1322G>A (p.Arg441Gln)
|
|
|
|
NM_004722.4(AP4M1):c.1336A>G (p.Ser446Gly)
|
|
|
|
NM_004722.4(AP4M1):c.1338C>T (p.Ser446=)
|
|
|
|
NM_004722.4(AP4M1):c.1350C>T (p.Val450=)
|
|
|
|
NM_004722.4(AP4M1):c.1354C>T (p.Arg452Trp)
|
|
|
|
NM_004722.4(AP4M1):c.1355G>A (p.Arg452Gln)
|
|
|
|
NM_004722.4(AP4M1):c.147+10G>A
|
rs1584505112
|
|
|
NM_004722.4(AP4M1):c.147+12C>T
|
|
|
|
NM_004722.4(AP4M1):c.147+16_147+22dup
|
|
|
|
NM_004722.4(AP4M1):c.147+18dup
|
|
|
|
NM_004722.4(AP4M1):c.148-10T>C
|
|
|
|
NM_004722.4(AP4M1):c.148-11C>T
|
|
|
|
NM_004722.4(AP4M1):c.148-18T>C
|
|
|
|
NM_004722.4(AP4M1):c.161G>A (p.Arg54His)
|
|
|
|
NM_004722.4(AP4M1):c.169A>G (p.Ile57Val)
|
|
|
|
NM_004722.4(AP4M1):c.173A>G (p.His58Arg)
|
|
|
|
NM_004722.4(AP4M1):c.192C>G (p.Leu64=)
|
|
|
|
NM_004722.4(AP4M1):c.196T>C (p.Leu66=)
|
|
|
|
NM_004722.4(AP4M1):c.203del (p.Val68fs)
|
rs1584507780
|
|
|
NM_004722.4(AP4M1):c.218dup (p.Asn73fs)
|
rs1321353475
|
|
|
NM_004722.4(AP4M1):c.219C>T (p.Asn73=)
|
|
|
|
NM_004722.4(AP4M1):c.220G>A (p.Val74Ile)
|
rs377178447
|
|
|
NM_004722.4(AP4M1):c.226C>T (p.Pro76Ser)
|
rs1796159168
|
|
|
NM_004722.4(AP4M1):c.238C>T (p.Leu80=)
|
|
|
|
NM_004722.4(AP4M1):c.244C>G (p.Leu82Val)
|
|
|
|
NM_004722.4(AP4M1):c.254+14G>A
|
|
|
|
NM_004722.4(AP4M1):c.254+15del
|
|
|
|
NM_004722.4(AP4M1):c.254+17T>C
|
|
|
|
NM_004722.4(AP4M1):c.254+20G>A
|
|
|
|
NM_004722.4(AP4M1):c.255-10G>A
|
|
|
|
NM_004722.4(AP4M1):c.255-12G>A
|
|
|
|
NM_004722.4(AP4M1):c.255-12G>C
|
|
|
|
NM_004722.4(AP4M1):c.255-4T>C
|
rs781069002
|
|
|
NM_004722.4(AP4M1):c.289C>G (p.Leu97Val)
|
|
|
|
NM_004722.4(AP4M1):c.294C>T (p.Gly98=)
|
|
|
|
NM_004722.4(AP4M1):c.30C>T (p.Ser10=)
|
rs539589967
|
|
|
NM_004722.4(AP4M1):c.310C>T (p.Arg104Cys)
|
|
|
|
NM_004722.4(AP4M1):c.32del (p.Lys11fs)
|
rs797045249
|
|
|
NM_004722.4(AP4M1):c.331G>A (p.Glu111Lys)
|
|
|
|
NM_004722.4(AP4M1):c.331G>C (p.Glu111Gln)
|
|
|
|
NM_004722.4(AP4M1):c.336C>T (p.Leu112=)
|
|
|
|
NM_004722.4(AP4M1):c.336_338del (p.Leu113del)
|
rs2116630200
|
|
|
NM_004722.4(AP4M1):c.342T>G (p.Asp114Glu)
|
|
|
|
NM_004722.4(AP4M1):c.351+17C>T
|
|
|
|
NM_004722.4(AP4M1):c.351+19C>T
|
|
|
|
NM_004722.4(AP4M1):c.351+19del
|
|
|
|
NM_004722.4(AP4M1):c.352-18_352-17dup
|
|
|
|
NM_004722.4(AP4M1):c.360C>T (p.Gly120=)
|
rs778147767
|
|
|
NM_004722.4(AP4M1):c.362A>G (p.Tyr121Cys)
|
|
|
|
NM_004722.4(AP4M1):c.376T>C (p.Ser126Pro)
|
rs2116635737
|
|
|
NM_004722.4(AP4M1):c.381G>A (p.Thr127=)
|
|
|
|
NM_004722.4(AP4M1):c.393G>A (p.Arg131=)
|
|
|
|
NM_004722.4(AP4M1):c.403C>T (p.Gln135Ter)
|
|
|
|
NM_004722.4(AP4M1):c.452G>A (p.Ser151Asn)
|
rs1028824532
|
|
|
NM_004722.4(AP4M1):c.454G>A (p.Val152Ile)
|
|
|
|
NM_004722.4(AP4M1):c.45C>G (p.Leu15=)
|
|
|
|
NM_004722.4(AP4M1):c.45C>T (p.Leu15=)
|
|
|
|
NM_004722.4(AP4M1):c.462+15A>G
|
|
|
|
NM_004722.4(AP4M1):c.462+20_462+22del
|
|
|
|
NM_004722.4(AP4M1):c.463-15T>C
|
|
|
|
NM_004722.4(AP4M1):c.471T>C (p.Ala157=)
|
|
|
|
NM_004722.4(AP4M1):c.476C>T (p.Thr159Ile)
|
|
|
|
NM_004722.4(AP4M1):c.498del (p.Ser167fs)
|
rs766513025
|
|
|
NM_004722.4(AP4M1):c.519C>T (p.Pro173=)
|
rs551112932
|
|
|
NM_004722.4(AP4M1):c.528C>T (p.Ser176=)
|
|
|
|
NM_004722.4(AP4M1):c.52_58+6del
|
rs1350685858
|
|
|
NM_004722.4(AP4M1):c.544-11C>T
|
|
|
|
NM_004722.4(AP4M1):c.544-13C>T
|
rs2116643223
|
|
|
NM_004722.4(AP4M1):c.544-16TC[3]
|
rs751511522
|
|
|
NM_004722.4(AP4M1):c.544-7_544-6del
|
|
|
|
NM_004722.4(AP4M1):c.547C>T (p.Gln183Ter)
|
rs1796279189
|
|
|
NM_004722.4(AP4M1):c.555_556del (p.Asn185fs)
|
rs2116643498
|
|
|
NM_004722.4(AP4M1):c.55G>A (p.Asp19Asn)
|
rs1219582721
|
|
|
NM_004722.4(AP4M1):c.566T>G (p.Leu189Trp)
|
rs2116643609
|
|
|
NM_004722.4(AP4M1):c.568del (p.Asp190fs)
|
|
|
|
NM_004722.4(AP4M1):c.576C>G (p.Val192=)
|
|
|
|
NM_004722.4(AP4M1):c.576C>T (p.Val192=)
|
rs776742429
|
|
|
NM_004722.4(AP4M1):c.58+14T>C
|
|
|
|
NM_004722.4(AP4M1):c.58+1_58+2del
|
rs1796054104
|
|
|
NM_004722.4(AP4M1):c.58+2T>G
|
rs1554377262
|
|
|
NM_004722.4(AP4M1):c.585G>A (p.Leu195=)
|
|
|
|
NM_004722.4(AP4M1):c.59-11C>T
|
rs774846906
|
|
|
NM_004722.4(AP4M1):c.59-14C>T
|
|
|
|
NM_004722.4(AP4M1):c.59-16T>C
|
|
|
|
NM_004722.4(AP4M1):c.59-17G>A
|
|
|
|
NM_004722.4(AP4M1):c.591A>G (p.Val197=)
|
|
|
|
NM_004722.4(AP4M1):c.600A>G (p.Ala200=)
|
|
|
|
NM_004722.4(AP4M1):c.606+18A>C
|
|
|
|
NM_004722.4(AP4M1):c.607-13C>T
|
|
|
|
NM_004722.4(AP4M1):c.607-2_607-1del
|
|
|
|
NM_004722.4(AP4M1):c.607-5C>T
|
|
|
|
NM_004722.4(AP4M1):c.616C>T (p.Leu206=)
|
|
|
|
NM_004722.4(AP4M1):c.622G>A (p.Val208Met)
|
|
|
|
NM_004722.4(AP4M1):c.63_64del (p.Asp23fs)
|
|
|
|
NM_004722.4(AP4M1):c.666C>T (p.Ser222=)
|
|
|
|
NM_004722.4(AP4M1):c.673+11T>C
|
|
|
|
NM_004722.4(AP4M1):c.673+18A>G
|
|
|
|
NM_004722.4(AP4M1):c.674-19A>T
|
rs1010643109
|
|
|
NM_004722.4(AP4M1):c.674-19_674-17del
|
|
|
|
NM_004722.4(AP4M1):c.674-6C>T
|
|
|
|
NM_004722.4(AP4M1):c.674-8_674-6del
|
rs2116650324
|
|
|
NM_004722.4(AP4M1):c.697G>T (p.Glu233Ter)
|
|
|
|
NM_004722.4(AP4M1):c.706G>T (p.Val236Leu)
|
|
|
|
NM_004722.4(AP4M1):c.707T>C (p.Val236Ala)
|
|
|
|
NM_004722.4(AP4M1):c.728-12C>T
|
|
|
|
NM_004722.4(AP4M1):c.728-17T>C
|
|
|
|
NM_004722.4(AP4M1):c.728-21TC[5]
|
rs748639289
|
|
|
NM_004722.4(AP4M1):c.728-21TC[6]
|
|
|
|
NM_004722.4(AP4M1):c.728-8C>T
|
|
|
|
NM_004722.4(AP4M1):c.729T>G (p.Gly243=)
|
|
|
|
NM_004722.4(AP4M1):c.741A>C (p.Gly247=)
|
rs1051745199
|
|
|
NM_004722.4(AP4M1):c.750C>A (p.Val250=)
|
|
|
|
NM_004722.4(AP4M1):c.751G>A (p.Asp251Asn)
|
|
|
|
NM_004722.4(AP4M1):c.752A>G (p.Asp251Gly)
|
rs2116653645
|
|
|
NM_004722.4(AP4M1):c.776_777del (p.Val259fs)
|
rs1397027035
|
|
|
NM_004722.4(AP4M1):c.781C>G (p.Leu261Val)
|
|
|
|
NM_004722.4(AP4M1):c.790T>C (p.Phe264Leu)
|
rs2116654185
|
|
|
NM_004722.4(AP4M1):c.797C>G (p.Ser266Cys)
|
rs2116654283
|
|
|
NM_004722.4(AP4M1):c.807C>T (p.Ile269=)
|
rs755494077
|
|
|
NM_004722.4(AP4M1):c.809T>C (p.Leu270Pro)
|
|
|
|
NM_004722.4(AP4M1):c.819A>G (p.Gln273=)
|
|
|
|
NM_004722.4(AP4M1):c.834+8T>C
|
|
|
|
NM_004722.4(AP4M1):c.839C>T (p.Thr280Ile)
|
|
|
|
NM_004722.4(AP4M1):c.840T>G (p.Thr280=)
|
|
|
|
NM_004722.4(AP4M1):c.842_843del (p.Val281fs)
|
rs776788025
|
|
|
NM_004722.4(AP4M1):c.843G>A (p.Val281=)
|
|
|
|
NM_004722.4(AP4M1):c.851A>C (p.Tyr284Ser)
|
rs1554380391
|
|
|
NM_004722.4(AP4M1):c.85G>A (p.Val29Met)
|
|
|
|
NM_004722.4(AP4M1):c.861dup (p.Asp288fs)
|
|
|
|
NM_004722.4(AP4M1):c.862G>A (p.Asp288Asn)
|
rs767611212
|
|
|
NM_004722.4(AP4M1):c.864T>C (p.Asp288=)
|
|
|
|
NM_004722.4(AP4M1):c.866A>G (p.Asp289Gly)
|
rs1584516454
|
|
|
NM_004722.4(AP4M1):c.872C>A (p.Pro291His)
|
|
|
|
NM_004722.4(AP4M1):c.878C>T (p.Pro293Leu)
|
rs757649099
|
|
|
NM_004722.4(AP4M1):c.891G>C (p.Arg297=)
|
|
|
|
NM_004722.4(AP4M1):c.923C>G (p.Ser308Ter)
|
rs1131691556
|
|
|
NM_004722.4(AP4M1):c.923C>T (p.Ser308Leu)
|
rs1131691556
|
|
|
NM_004722.4(AP4M1):c.929+10T>C
|
rs758175403
|
|
|
NM_004722.4(AP4M1):c.929+5G>A
|
rs1293317548
|
|
|
NM_004722.4(AP4M1):c.930-11C>T
|
|
|
|
NM_004722.4(AP4M1):c.930-1G>C
|
|
|
|
NM_004722.4(AP4M1):c.930-4C>G
|
|
|
|
NM_004722.4(AP4M1):c.930-6A>C
|
|
|
|
NM_004722.4(AP4M1):c.952C>T (p.Arg318Ter)
|
rs730882249
|
|
|
NM_004722.4(AP4M1):c.961C>T (p.Leu321=)
|
|
|
|
NM_004722.4(AP4M1):c.974+115dup
|
|
|
|
NM_004722.4(AP4M1):c.975-13G>A
|
|
|
|
NM_004722.4(AP4M1):c.975-13G>T
|
rs778720143
|
|
|
NM_004722.4(AP4M1):c.975-14C>A
|
rs370610939
|
|
|
NM_004722.4(AP4M1):c.975-15C>T
|
|
|
|
NM_004722.4(AP4M1):c.975-16C>T
|
|
|
|
NM_004722.4(AP4M1):c.975-25_975-22del
|
|
|
|
NM_004722.4(AP4M1):c.975-6C>G
|
rs2116667853
|
|
|
NM_004722.4(AP4M1):c.975-8C>T
|
|
|
|
NM_004722.4(AP4M1):c.975-9C>T
|
|
|
|
NM_004722.4(AP4M1):c.984C>A (p.Leu328=)
|
|
|
|
NM_004722.4(AP4M1):c.984C>G (p.Leu328=)
|
|
|
|
NM_004722.4(AP4M1):c.990C>G (p.Val330=)
|
rs371813095
|
|
|
NM_004722.4(AP4M1):c.990C>T (p.Val330=)
|
|
|
|
NM_004722.4(AP4M1):c.994C>G (p.Leu332Val)
|
rs2116668165
|
|
|
NM_004722.4(AP4M1):c.9C>A (p.Ser3=)
|
|
|
|
NM_004733.4(SLC33A1):c.1363G>A (p.Val455Met)
|
|
|
|
NM_004733.4(SLC33A1):c.1511_1521del (p.Val504fs)
|
rs772861569
|
|
|
NM_004733.4(SLC33A1):c.1536G>A (p.Val512=)
|
rs2109302353
|
|
|
NM_004733.4(SLC33A1):c.1569T>C (p.Gly523=)
|
rs150442784
|
|
|
NM_004733.4(SLC33A1):c.339T>G (p.Ser113Arg)
|
rs121909484
|
|
|
NM_004733.4(SLC33A1):c.353C>G (p.Pro118Arg)
|
rs1753504839
|
|
|
NM_004820.5(CYP7B1):c.*402A>T
|
rs189470710
|
|
|
NM_004820.5(CYP7B1):c.-144C>G
|
rs191075257
|
|
|
NM_004820.5(CYP7B1):c.-144C>T
|
rs191075257
|
|
|
NM_004820.5(CYP7B1):c.1001G>C (p.Gly334Ala)
|
|
|
|
NM_004820.5(CYP7B1):c.1082G>A (p.Arg361Gln)
|
|
|
|
NM_004820.5(CYP7B1):c.1091C>T (p.Ser364Leu)
|
rs770065565
|
|
|
NM_004820.5(CYP7B1):c.1108C>T (p.Arg370Cys)
|
|
|
|
NM_004820.5(CYP7B1):c.1162C>G (p.Arg388Gly)
|
|
|
|
NM_004820.5(CYP7B1):c.1168G>T (p.Gly390Ter)
|
rs765443036
|
|
|
NM_004820.5(CYP7B1):c.1202A>G (p.His401Arg)
|
rs1467815062
|
|
|
NM_004820.5(CYP7B1):c.123-19dup
|
rs8192895
|
|
|
NM_004820.5(CYP7B1):c.123-9del
|
rs8192895
|
|
|
NM_004820.5(CYP7B1):c.1233+1G>A
|
|
|
|
NM_004820.5(CYP7B1):c.1249C>T (p.Arg417Cys)
|
rs367916692
|
|
|
NM_004820.5(CYP7B1):c.1280C>T (p.Thr427Ile)
|
|
|
|
NM_004820.5(CYP7B1):c.1286dup (p.Lys430fs)
|
rs1060502224
|
|
|
NM_004820.5(CYP7B1):c.1304T>C (p.Leu435Pro)
|
rs2129629752
|
|
|
NM_004820.5(CYP7B1):c.1309T>G (p.Cys437Gly)
|
rs1563536994
|
|
|
NM_004820.5(CYP7B1):c.1311_1316delinsAGAA (p.Cys437_Leu439delinsTer)
|
rs2129629751
|
|
|
NM_004820.5(CYP7B1):c.1346G>A (p.Cys449Tyr)
|
rs761060634
|
|
|
NM_004820.5(CYP7B1):c.1354C>T (p.Arg452Ter)
|
rs769676029
|
|
|
NM_004820.5(CYP7B1):c.1408T>A (p.Phe470Ile)
|
rs267606758
|
|
|
NM_004820.5(CYP7B1):c.151G>C (p.Gly51Arg)
|
rs961524982
|
|
|
NM_004820.5(CYP7B1):c.170G>C (p.Gly57Ala)
|
rs1805578327
|
|
|
NM_004820.5(CYP7B1):c.209T>A (p.Met70Lys)
|
rs886063075
|
|
|
NM_004820.5(CYP7B1):c.250CTT[1] (p.Leu85del)
|
rs1342291953
|
|
|
NM_004820.5(CYP7B1):c.259+2T>C
|
rs751713917
|
|
|
NM_004820.5(CYP7B1):c.260-1G>A
|
rs1385678413
|
|
|
NM_004820.5(CYP7B1):c.260G>T (p.Gly87Val)
|
rs587777221
|
|
|
NM_004820.5(CYP7B1):c.261A>G (p.Gly87=)
|
rs886063074
|
|
|
NM_004820.5(CYP7B1):c.283G>T (p.Asp95Tyr)
|
rs1805446104
|
|
|
NM_004820.5(CYP7B1):c.314dup (p.Asn105fs)
|
rs747514385
|
|
|
NM_004820.5(CYP7B1):c.321_324del (p.Lys107fs)
|
rs770285398
|
|
|
NM_004820.5(CYP7B1):c.59C>T (p.Pro20Leu)
|
rs537303950
|
|
|
NM_004820.5(CYP7B1):c.62del (p.Gly21fs)
|
|
|
|
NM_004820.5(CYP7B1):c.647T>C (p.Phe216Ser)
|
rs121908612
|
|
|
NM_004820.5(CYP7B1):c.650T>A (p.Leu217Ter)
|
|
|
|
NM_004820.5(CYP7B1):c.650dup (p.Leu217fs)
|
rs1298132281
|
|
|
NM_004820.5(CYP7B1):c.67del (p.Ala23fs)
|
rs2129748221
|
|
|
NM_004820.5(CYP7B1):c.737T>A (p.Ile246Lys)
|
|
|
|
NM_004820.5(CYP7B1):c.75C>A (p.Ala25=)
|
rs536629832
|
|
|
NM_004820.5(CYP7B1):c.788T>G (p.Val263Gly)
|
|
|
|
NM_004820.5(CYP7B1):c.830A>C (p.His277Pro)
|
rs145521868
|
|
|
NM_004820.5(CYP7B1):c.854A>T (p.His285Leu)
|
rs750781606
|
|
|
NM_004820.5(CYP7B1):c.914dup (p.Met305fs)
|
rs1554524697
|
|
|
NM_004820.5(CYP7B1):c.953T>G (p.Val318Gly)
|
rs752671180
|
|
|
NM_004820.5(CYP7B1):c.961G>A (p.Glu321Lys)
|
rs866340497
|
|
|
NM_004984.4(KIF5A):c.*14C>T
|
rs192586811
|
|
|
NM_004984.4(KIF5A):c.*326G>C
|
rs150199729
|
|
|
NM_004984.4(KIF5A):c.*326G>T
|
rs150199729
|
|
|
NM_004984.4(KIF5A):c.*335T>G
|
rs1882700550
|
|
|
NM_004984.4(KIF5A):c.*435C>T
|
rs886049704
|
|
|
NM_004984.4(KIF5A):c.*492A>T
|
rs886049705
|
|
|
NM_004984.4(KIF5A):c.*86C>G
|
rs1882692170
|
|
|
NM_004984.4(KIF5A):c.1045_1047del (p.Glu349del)
|
|
|
|
NM_004984.4(KIF5A):c.1079T>C (p.Ile360Thr)
|
rs886049700
|
|
|
NM_004984.4(KIF5A):c.1176G>A (p.Glu392=)
|
rs75907338
|
|
|
NM_004984.4(KIF5A):c.1233dup (p.Glu412fs)
|
|
|
|
NM_004984.4(KIF5A):c.126T>G (p.Ile42Met)
|
rs149569914
|
|
|
NM_004984.4(KIF5A):c.129+1G>A
|
|
|
|
NM_004984.4(KIF5A):c.1396G>T (p.Val466Phe)
|
|
|
|
NM_004984.4(KIF5A):c.1491C>G (p.Asn497Lys)
|
|
|
|
NM_004984.4(KIF5A):c.1688T>C (p.Val563Ala)
|
|
|
|
NM_004984.4(KIF5A):c.1710T>G (p.Ile570Met)
|
rs1882294516
|
|
|
NM_004984.4(KIF5A):c.1819C>A (p.Gln607Lys)
|
|
|
|
NM_004984.4(KIF5A):c.1890G>C (p.Gln630His)
|
|
|
|
NM_004984.4(KIF5A):c.2126C>T (p.Ala709Val)
|
rs368671947
|
|
|
NM_004984.4(KIF5A):c.2153G>A (p.Arg718Gln)
|
|
|
|
NM_004984.4(KIF5A):c.2175G>C (p.Gln725His)
|
|
|
|
NM_004984.4(KIF5A):c.217G>A (p.Asp73Asn)
|
|
|
|
NM_004984.4(KIF5A):c.2433+10G>A
|
rs149832619
|
|
|
NM_004984.4(KIF5A):c.2466G>C (p.Gly822=)
|
rs759472256
|
|
|
NM_004984.4(KIF5A):c.2563C>T (p.Arg855Cys)
|
rs2140171424
|
|
|
NM_004984.4(KIF5A):c.2590C>T (p.Arg864Ter)
|
rs1882578572
|
|
|
NM_004984.4(KIF5A):c.259C>G (p.Gln87Glu)
|
|
|
|
NM_004984.4(KIF5A):c.2869C>T (p.Leu957Phe)
|
rs1882602063
|
|
|
NM_004984.4(KIF5A):c.2950G>A (p.Gly984Ser)
|
|
|
|
NM_004984.4(KIF5A):c.2956C>T (p.Pro986Ser)
|
rs2140172158
|
|
|
NM_004984.4(KIF5A):c.2993-6C>A
|
rs1057522322
|
|
|
NM_004984.4(KIF5A):c.395A>G (p.Lys132Arg)
|
rs2140159183
|
|
|
NM_004984.4(KIF5A):c.397-9C>A
|
rs777193528
|
|
|
NM_004984.4(KIF5A):c.416A>G (p.Tyr139Cys)
|
rs2140159368
|
|
|
NM_004984.4(KIF5A):c.484C>T (p.Arg162Trp)
|
rs748551786
|
|
|
NM_004984.4(KIF5A):c.501+2T>C
|
|
|
|
NM_004984.4(KIF5A):c.502-15A>T
|
rs1882086911
|
|
|
NM_004984.4(KIF5A):c.515G>C (p.Arg172Pro)
|
rs1882088063
|
|
|
NM_004984.4(KIF5A):c.543G>A (p.Leu181=)
|
rs2140161229
|
|
|
NM_004984.4(KIF5A):c.547G>T (p.Val183Leu)
|
rs2140161239
|
|
|
NM_004984.4(KIF5A):c.566C>G (p.Ser189Ter)
|
|
|
|
NM_004984.4(KIF5A):c.572G>A (p.Arg191His)
|
rs1488871976
|
|
|
NM_004984.4(KIF5A):c.587C>T (p.Thr196Ile)
|
rs2140161296
|
|
|
NM_004984.4(KIF5A):c.597T>G (p.Asn199Lys)
|
rs11172251
|
|
|
NM_004984.4(KIF5A):c.604A>G (p.Ser202Gly)
|
rs1057524193
|
|
|
NM_004984.4(KIF5A):c.605G>A (p.Ser202Asn)
|
rs1057519195
|
|
|
NM_004984.4(KIF5A):c.610C>T (p.Arg204Trp)
|
rs1555177629
|
|
|
NM_004984.4(KIF5A):c.611G>A (p.Arg204Gln)
|
rs387907287
|
|
|
NM_004984.4(KIF5A):c.687T>A (p.Tyr229Ter)
|
rs2140161617
|
|
|
NM_004984.4(KIF5A):c.694G>A (p.Asp232Asn)
|
rs690016545
|
|
|
NM_004984.4(KIF5A):c.698T>A (p.Leu233Gln)
|
rs1594915468
|
|
|
NM_004984.4(KIF5A):c.704G>A (p.Gly235Glu)
|
rs387907289
|
|
|
NM_004984.4(KIF5A):c.715-9C>A
|
rs1882156694
|
|
|
NM_004984.4(KIF5A):c.728G>A (p.Gly243Glu)
|
rs2140162541
|
|
|
NM_004984.4(KIF5A):c.737G>T (p.Gly246Val)
|
|
|
|
NM_004984.4(KIF5A):c.751G>A (p.Glu251Lys)
|
rs387907285
|
|
|
NM_004984.4(KIF5A):c.763A>G (p.Ile255Val)
|
rs2140162576
|
|
|
NM_004984.4(KIF5A):c.765C>G (p.Ile255Met)
|
rs2140162581
|
|
|
NM_004984.4(KIF5A):c.767A>G (p.Asn256Ser)
|
rs121434441
|
|
|
NM_004984.4(KIF5A):c.788G>A (p.Gly263Asp)
|
rs2140162605
|
|
|
NM_004984.4(KIF5A):c.794T>G (p.Val265Gly)
|
|
|
|
NM_004984.4(KIF5A):c.799T>C (p.Ser267Pro)
|
rs1131692233
|
|
|
NM_004984.4(KIF5A):c.806T>C (p.Leu269Pro)
|
|
|
|
NM_004984.4(KIF5A):c.818C>G (p.Thr273Ser)
|
rs1882160307
|
|
|
NM_004984.4(KIF5A):c.827A>G (p.Tyr276Cys)
|
rs121434443
|
|
|
NM_004984.4(KIF5A):c.833C>T (p.Pro278Leu)
|
rs1555177824
|
|
|
NM_004984.4(KIF5A):c.838C>T (p.Arg280Cys)
|
rs121434442
|
|
|
NM_004984.4(KIF5A):c.839G>A (p.Arg280His)
|
rs387907288
|
|
|
NM_004984.4(KIF5A):c.854C>T (p.Thr285Ile)
|
rs2140162883
|
|
|
NM_004984.4(KIF5A):c.857G>C (p.Arg286Thr)
|
rs1224640834
|
|
|
NM_004984.4(KIF5A):c.862C>T (p.Leu288Phe)
|
rs2140162896
|
|
|
NM_004984.4(KIF5A):c.865C>T (p.Gln289Ter)
|
|
|
|
NM_004984.4(KIF5A):c.868G>C (p.Asp290His)
|
rs1555177831
|
|
|
NM_004984.4(KIF5A):c.872C>T (p.Ser291Phe)
|
rs761812789
|
|
|
NM_004984.4(KIF5A):c.889C>T (p.Arg297Trp)
|
rs1416085161
|
|
|
NM_004984.4(KIF5A):c.890G>A (p.Arg297Gln)
|
rs1404057685
|
|
|
NM_004990.4(MARS1):c.1166G>A (p.Cys389Tyr)
|
|
|
|
NM_004990.4(MARS1):c.13G>A (p.Val5Met)
|
rs587777227
|
|
|
NM_005154.5(USP8):c.1022A>G (p.Glu341Gly)
|
|
|
|
NM_005154.5(USP8):c.104+17G>A
|
|
|
|
NM_005154.5(USP8):c.104+20A>G
|
|
|
|
NM_005154.5(USP8):c.104+5G>C
|
|
|
|
NM_005154.5(USP8):c.1050G>T (p.Gln350His)
|
rs2051600642
|
|
|
NM_005154.5(USP8):c.1052C>T (p.Thr351Met)
|
|
|
|
NM_005154.5(USP8):c.1053G>A (p.Thr351=)
|
rs1196856326
|
|
|
NM_005154.5(USP8):c.1148C>A (p.Pro383Gln)
|
|
|
|
NM_005154.5(USP8):c.1151T>A (p.Val384Asp)
|
|
|
|
NM_005154.5(USP8):c.1213C>T (p.Pro405Ser)
|
|
|
|
NM_005154.5(USP8):c.1218+17A>T
|
|
|
|
NM_005154.5(USP8):c.1219-20C>G
|
|
|
|
NM_005154.5(USP8):c.1296= (p.Gln432=)
|
|
|
|
NM_005154.5(USP8):c.1299A>G (p.Gln433=)
|
|
|
|
NM_005154.5(USP8):c.1301CTC[1] (p.Pro435del)
|
|
|
|
NM_005154.5(USP8):c.1330C>T (p.Arg444Cys)
|
rs148244041
|
|
|
NM_005154.5(USP8):c.1531G>C (p.Glu511Gln)
|
rs778969876
|
|
|
NM_005154.5(USP8):c.1553A>C (p.Gln518Pro)
|
rs2141304804
|
|
|
NM_005154.5(USP8):c.1573A>T (p.Met525Leu)
|
|
|
|
NM_005154.5(USP8):c.1620C>T (p.Thr540=)
|
|
|
|
NM_005154.5(USP8):c.1637A>G (p.Lys546Arg)
|
|
|
|
NM_005154.5(USP8):c.1674A>T (p.Glu558Asp)
|
rs1288098442
|
|
|
NM_005154.5(USP8):c.1692C>G (p.Ala564=)
|
rs2141304977
|
|
|
NM_005154.5(USP8):c.1773A>C (p.Thr591=)
|
rs370736010
|
|
|
NM_005154.5(USP8):c.1775C>T (p.Ser592Phe)
|
rs1039670134
|
|
|
NM_005154.5(USP8):c.1793G>T (p.Gly598Val)
|
|
|
|
NM_005154.5(USP8):c.1859G>A (p.Arg620Lys)
|
|
|
|
NM_005154.5(USP8):c.1873G>A (p.Asp625Asn)
|
|
|
|
NM_005154.5(USP8):c.1878C>T (p.Thr626=)
|
|
|
|
NM_005154.5(USP8):c.1891-17T>A
|
|
|
|
NM_005154.5(USP8):c.1896A>G (p.Gln632=)
|
|
|
|
NM_005154.5(USP8):c.1925A>C (p.Glu642Ala)
|
rs2141316371
|
|
|
NM_005154.5(USP8):c.1947A>G (p.Pro649=)
|
|
|
|
NM_005154.5(USP8):c.1972-20T>G
|
|
|
|
NM_005154.5(USP8):c.2235-20G>T
|
|
|
|
NM_005154.5(USP8):c.2307T>C (p.Phe769=)
|
rs2141320965
|
|
|
NM_005154.5(USP8):c.2320C>T (p.Pro774Ser)
|
|
|
|
NM_005154.5(USP8):c.2383C>T (p.Leu795=)
|
rs1595985288
|
|
|
NM_005154.5(USP8):c.2443A>G (p.Asn815Asp)
|
rs1555392171
|
|
|
NM_005154.5(USP8):c.249+21_249+23del
|
rs776173241
|
|
|
NM_005154.5(USP8):c.2519G>A (p.Gly840Glu)
|
|
|
|
NM_005154.5(USP8):c.2624T>C (p.Phe875Ser)
|
rs2141323193
|
|
|
NM_005154.5(USP8):c.2658+5_2658+8dup
|
rs535741597
|
|
|
NM_005154.5(USP8):c.268C>T (p.Leu90Phe)
|
|
|
|
NM_005154.5(USP8):c.2746C>A (p.Gln916Lys)
|
|
|
|
NM_005154.5(USP8):c.2809C>T (p.Leu937Phe)
|
|
|
|
NM_005154.5(USP8):c.2842G>C (p.Ala948Pro)
|
rs2052386755
|
|
|
NM_005154.5(USP8):c.286A>C (p.Lys96Gln)
|
|
|
|
NM_005154.5(USP8):c.2879_2895+12dup
|
|
|
|
NM_005154.5(USP8):c.2896-8dup
|
|
|
|
NM_005154.5(USP8):c.297C>A (p.Val99=)
|
rs183341645
|
|
|
NM_005154.5(USP8):c.297C>T (p.Val99=)
|
|
|
|
NM_005154.5(USP8):c.2983C>G (p.Leu995Val)
|
|
|
|
NM_005154.5(USP8):c.3018G>A (p.Val1006=)
|
|
|
|
NM_005154.5(USP8):c.3038+22_3038+24del
|
|
|
|
NM_005154.5(USP8):c.3079T>A (p.Ser1027Thr)
|
|
|
|
NM_005154.5(USP8):c.3119A>G (p.Tyr1040Cys)
|
|
|
|
NM_005154.5(USP8):c.3172-16_3172-13dup
|
rs200945863
|
|
|
NM_005154.5(USP8):c.317C>G (p.Ser106Cys)
|
rs2141265920
|
|
|
NM_005154.5(USP8):c.3290A>T (p.Lys1097Ile)
|
|
|
|
NM_005154.5(USP8):c.3292T>G (p.Ser1098Ala)
|
rs762795803
|
|
|
NM_005154.5(USP8):c.3326T>C (p.Leu1109Ser)
|
|
|
|
NM_005154.5(USP8):c.3335G>A (p.Arg1112Gln)
|
|
|
|
NM_005154.5(USP8):c.335+4C>G
|
|
|
|
NM_005154.5(USP8):c.3353C>A (p.Thr1118Lys)
|
|
|
|
NM_005154.5(USP8):c.407A>C (p.Gln136Pro)
|
|
|
|
NM_005154.5(USP8):c.479C>G (p.Ser160Cys)
|
|
|
|
NM_005154.5(USP8):c.494A>T (p.Gln165Leu)
|
|
|
|
NM_005154.5(USP8):c.499-13T>C
|
|
|
|
NM_005154.5(USP8):c.513G>C (p.Lys171Asn)
|
|
|
|
NM_005154.5(USP8):c.515A>G (p.Asn172Ser)
|
|
|
|
NM_005154.5(USP8):c.530C>G (p.Thr177Ser)
|
|
|
|
NM_005154.5(USP8):c.542-19T>C
|
|
|
|
NM_005154.5(USP8):c.578C>T (p.Thr193Met)
|
|
|
|
NM_005154.5(USP8):c.587A>C (p.Asn196Thr)
|
rs937524145
|
|
|
NM_005154.5(USP8):c.802T>G (p.Leu268Val)
|
|
|
|
NM_005154.5(USP8):c.808A>G (p.Ile270Val)
|
|
|
|
NM_005154.5(USP8):c.824G>A (p.Arg275Gln)
|
|
|
|
NM_005154.5(USP8):c.930G>T (p.Gln310His)
|
|
|
|
NM_005154.5(USP8):c.952_955dup (p.Pro319fs)
|
|
|
|
NM_005154.5(USP8):c.965G>A (p.Arg322Gln)
|
|
|
|
NM_005154.5(USP8):c.988A>G (p.Ile330Val)
|
|
|
|
NM_005186.4(CAPN1):c.1005G>A (p.Trp335Ter)
|
rs1428333006
|
|
|
NM_005186.4(CAPN1):c.1010C>A (p.Ser337Ter)
|
rs778438052
|
|
|
NM_005186.4(CAPN1):c.1129_1133del (p.Arg377fs)
|
rs1948677308
|
|
|
NM_005186.4(CAPN1):c.1153C>T (p.Arg385Ter)
|
rs955142329
|
|
|
NM_005186.4(CAPN1):c.1165+1G>A
|
rs781004578
|
|
|
NM_005186.4(CAPN1):c.1341G>C (p.Glu447Asp)
|
rs1471188671
|
|
|
NM_005186.4(CAPN1):c.1418_1419del (p.Arg473fs)
|
rs1948961118
|
|
|
NM_005186.4(CAPN1):c.1579C>T (p.Gln527Ter)
|
rs875989787
|
|
|
NM_005186.4(CAPN1):c.1697dup (p.Leu566fs)
|
rs1948992593
|
|
|
NM_005186.4(CAPN1):c.181_182insC (p.Phe61fs)
|
|
|
|
NM_005186.4(CAPN1):c.1942+77C>T
|
rs625750
|
|
|
NM_005186.4(CAPN1):c.1969G>T (p.Glu657Ter)
|
rs1949027966
|
|
|
NM_005186.4(CAPN1):c.254G>A (p.Trp85Ter)
|
rs1948565964
|
|
|
NM_005186.4(CAPN1):c.338-1G>A
|
rs1590847310
|
|
|
NM_005186.4(CAPN1):c.407del (p.Pro136fs)
|
rs875989845
|
|
|
NM_005186.4(CAPN1):c.532_558del (p.Val178_Phe186del)
|
rs2137317649
|
|
|
NM_005186.4(CAPN1):c.623G>A (p.Gly208Asp)
|
rs776839253
|
|
|
NM_005186.4(CAPN1):c.667G>T (p.Glu223Ter)
|
|
|
|
NM_005186.4(CAPN1):c.805G>A (p.Val269Met)
|
|
|
|
NM_005186.4(CAPN1):c.843+114del
|
rs3832790
|
|
|
NM_005186.4(CAPN1):c.884G>C (p.Arg295Pro)
|
rs756205995
|
|
|
NM_005186.4(CAPN1):c.911C>T (p.Thr304Met)
|
|
|
|
NM_005186.4(CAPN1):c.949G>A (p.Val317Met)
|
|
|
|
NM_005619.4(RTN2):c.818_828del
|
rs1568624823
|
|
|
NM_005619.5(RTN2):c.*148G>A
|
rs886054503
|
|
|
NM_005619.5(RTN2):c.*300G>C
|
rs532093070
|
|
|
NM_005619.5(RTN2):c.-170GGC[10]
|
rs3038807
|
|
|
NM_005619.5(RTN2):c.-170GGC[13]
|
rs3038807
|
|
|
NM_005619.5(RTN2):c.-170GGC[16]
|
rs3038807
|
|
|
NM_005619.5(RTN2):c.1034-13C>T
|
rs1968107976
|
|
|
NM_005619.5(RTN2):c.103C>T (p.Arg35Ter)
|
|
|
|
NM_005619.5(RTN2):c.1185G>A (p.Arg395=)
|
rs781104615
|
|
|
NM_005619.5(RTN2):c.1192C>G (p.Arg398Gly)
|
|
|
|
NM_005619.5(RTN2):c.1216dup (p.Arg406fs)
|
|
|
|
NM_005619.5(RTN2):c.1217G>A (p.Arg406Gln)
|
rs369158895
|
|
|
NM_005619.5(RTN2):c.1421T>C (p.Ile474Thr)
|
rs1968080913
|
|
|
NM_005619.5(RTN2):c.1484A>G (p.Tyr495Cys)
|
rs1037969877
|
|
|
NM_005619.5(RTN2):c.148G>T (p.Glu50Ter)
|
rs1162797495
|
|
|
NM_005619.5(RTN2):c.1497+3G>A
|
rs1318814220
|
|
|
NM_005619.5(RTN2):c.170del (p.Gly57fs)
|
rs1968241252
|
|
|
NM_005619.5(RTN2):c.178dup (p.Arg60fs)
|
rs763387041
|
|
|
NM_005619.5(RTN2):c.198C>A (p.Tyr66Ter)
|
|
|
|
NM_005619.5(RTN2):c.212G>T (p.Gly71Val)
|
|
|
|
NM_005619.5(RTN2):c.653C>T (p.Thr218Ile)
|
rs2122226808
|
|
|
NM_005619.5(RTN2):c.68A>G (p.Asp23Gly)
|
rs2122229330
|
|
|
NM_005619.5(RTN2):c.847C>T (p.Leu283Phe)
|
|
|
|
NM_005619.5(RTN2):c.926del (p.Gly309fs)
|
|
|
|
NM_005619.5(RTN2):c.938dup (p.Thr314fs)
|
rs748397131
|
|
|
NM_005619.5(RTN2):c.943C>A (p.Pro315Thr)
|
rs765944441
|
|
|
NM_005628.3(SLC1A5):c.829G>A (p.Ala277Thr)
|
rs765008475
|
|
|
NM_006070.6(TFG):c.1009A>G (p.Thr337Ala)
|
|
|
|
NM_006070.6(TFG):c.1012A>G (p.Asn338Asp)
|
|
|
|
NM_006070.6(TFG):c.1014T>G (p.Asn338Lys)
|
rs1553704923
|
|
|
NM_006070.6(TFG):c.1017T>A (p.Tyr339Ter)
|
|
|
|
NM_006070.6(TFG):c.101A>T (p.Asp34Val)
|
|
|
|
NM_006070.6(TFG):c.1027C>G (p.Pro343Ala)
|
rs750232252
|
|
|
NM_006070.6(TFG):c.1030G>A (p.Ala344Thr)
|
rs1576389587
|
|
|
NM_006070.6(TFG):c.1034C>T (p.Ser345Phe)
|
|
|
|
NM_006070.6(TFG):c.1036C>T (p.Gln346Ter)
|
rs1576389617
|
|
|
NM_006070.6(TFG):c.1051C>T (p.Pro351Ser)
|
rs2149106556
|
|
|
NM_006070.6(TFG):c.1054A>G (p.Ser352Gly)
|
|
|
|
NM_006070.6(TFG):c.105A>G (p.Glu35=)
|
|
|
|
NM_006070.6(TFG):c.1097T>A (p.Leu366His)
|
|
|
|
NM_006070.6(TFG):c.1111A>G (p.Met371Val)
|
rs2095155960
|
|
|
NM_006070.6(TFG):c.1113G>A (p.Met371Ile)
|
|
|
|
NM_006070.6(TFG):c.1118dup (p.Pro374fs)
|
|
|
|
NM_006070.6(TFG):c.1120C>T (p.Pro374Ser)
|
rs781504257
|
|
|
NM_006070.6(TFG):c.1123C>T (p.Pro375Ser)
|
|
|
|
NM_006070.6(TFG):c.1131G>A (p.Gly377=)
|
|
|
|
NM_006070.6(TFG):c.1133C>T (p.Pro378Leu)
|
rs2095156171
|
|
|
NM_006070.6(TFG):c.1153C>G (p.Arg385Gly)
|
|
|
|
NM_006070.6(TFG):c.1157C>T (p.Pro386Leu)
|
rs766049461
|
|
|
NM_006070.6(TFG):c.1163T>G (p.Phe388Cys)
|
rs2149106914
|
|
|
NM_006070.6(TFG):c.1166G>A (p.Gly389Asp)
|
|
|
|
NM_006070.6(TFG):c.1170G>A (p.Gln390=)
|
|
|
|
NM_006070.6(TFG):c.1175A>G (p.Tyr392Cys)
|
|
|
|
NM_006070.6(TFG):c.1176T>C (p.Tyr392=)
|
rs1197524442
|
|
|
NM_006070.6(TFG):c.1178C>A (p.Thr393Asn)
|
|
|
|
NM_006070.6(TFG):c.1179C>T (p.Thr393=)
|
rs764626833
|
|
|
NM_006070.6(TFG):c.1182A>G (p.Gln394=)
|
|
|
|
NM_006070.6(TFG):c.1185T>C (p.Pro395=)
|
rs1185375387
|
|
|
NM_006070.6(TFG):c.1187G>A (p.Gly396Glu)
|
|
|
|
NM_006070.6(TFG):c.1188A>G (p.Gly396=)
|
|
|
|
NM_006070.6(TFG):c.1191T>C (p.Pro397=)
|
|
|
|
NM_006070.6(TFG):c.1199G>A (p.Arg400Gln)
|
rs963151000
|
|
|
NM_006070.6(TFG):c.1199G>C (p.Arg400Pro)
|
rs963151000
|
|
|
NM_006070.6(TFG):c.1202A>G (p.Ter401=)
|
|
|
|
NM_006070.6(TFG):c.133A>C (p.Arg45=)
|
|
|
|
NM_006070.6(TFG):c.160G>A (p.Val54Ile)
|
|
|
|
NM_006070.6(TFG):c.162A>C (p.Val54=)
|
|
|
|
NM_006070.6(TFG):c.166A>G (p.Ile56Val)
|
|
|
|
NM_006070.6(TFG):c.174T>C (p.Tyr58=)
|
|
|
|
NM_006070.6(TFG):c.175A>G (p.Lys59Glu)
|
|
|
|
NM_006070.6(TFG):c.17A>C (p.Asp6Ala)
|
|
|
|
NM_006070.6(TFG):c.183A>C (p.Glu61Asp)
|
|
|
|
NM_006070.6(TFG):c.184+13T>C
|
|
|
|
NM_006070.6(TFG):c.184+18G>C
|
|
|
|
NM_006070.6(TFG):c.184+5G>A
|
|
|
|
NM_006070.6(TFG):c.184+6A>C
|
|
|
|
NM_006070.6(TFG):c.185-10T>A
|
rs79631225
|
|
|
NM_006070.6(TFG):c.185-10T>C
|
rs79631225
|
|
|
NM_006070.6(TFG):c.185-11_185-10del
|
|
|
|
NM_006070.6(TFG):c.185-12T>C
|
|
|
|
NM_006070.6(TFG):c.185-13T>C
|
|
|
|
NM_006070.6(TFG):c.185-7del
|
rs776693527
|
|
|
NM_006070.6(TFG):c.194T>G (p.Leu65Arg)
|
rs2149066367
|
|
|
NM_006070.6(TFG):c.196A>G (p.Ile66Val)
|
rs2095056321
|
|
|
NM_006070.6(TFG):c.197T>C (p.Ile66Thr)
|
|
|
|
NM_006070.6(TFG):c.198A>G (p.Ile66Met)
|
rs2095056339
|
|
|
NM_006070.6(TFG):c.219C>T (p.Asp73=)
|
rs2149066401
|
|
|
NM_006070.6(TFG):c.230C>T (p.Ala77Val)
|
|
|
|
NM_006070.6(TFG):c.231A>G (p.Ala77=)
|
rs771223027
|
|
|
NM_006070.6(TFG):c.237G>T (p.Gln79His)
|
rs1173009495
|
|
|
NM_006070.6(TFG):c.24T>C (p.Ser8=)
|
rs1553699512
|
|
|
NM_006070.6(TFG):c.254A>C (p.Lys85Thr)
|
|
|
|
NM_006070.6(TFG):c.258G>A (p.Leu86=)
|
|
|
|
NM_006070.6(TFG):c.261A>G (p.Thr87=)
|
rs2149066459
|
|
|
NM_006070.6(TFG):c.264A>G (p.Leu88=)
|
|
|
|
NM_006070.6(TFG):c.268+12A>G
|
rs2149066494
|
|
|
NM_006070.6(TFG):c.268+18del
|
|
|
|
NM_006070.6(TFG):c.268+7A>G
|
|
|
|
NM_006070.6(TFG):c.268+8G>A
|
rs1227137986
|
|
|
NM_006070.6(TFG):c.269-13G>A
|
|
|
|
NM_006070.6(TFG):c.276C>T (p.Gly92=)
|
|
|
|
NM_006070.6(TFG):c.278A>G (p.Gln93Arg)
|
|
|
|
NM_006070.6(TFG):c.280C>A (p.Pro94Thr)
|
|
|
|
NM_006070.6(TFG):c.288C>G (p.Pro96=)
|
rs1180461235
|
|
|
NM_006070.6(TFG):c.290T>A (p.Leu97His)
|
rs1576366321
|
|
|
NM_006070.6(TFG):c.291T>C (p.Leu97=)
|
|
|
|
NM_006070.6(TFG):c.302A>G (p.Gln101Arg)
|
rs1576366326
|
|
|
NM_006070.6(TFG):c.303G>A (p.Gln101=)
|
|
|
|
NM_006070.6(TFG):c.303G>C (p.Gln101His)
|
rs746086227
|
|
|
NM_006070.6(TFG):c.320G>A (p.Arg107Gln)
|
|
|
|
NM_006070.6(TFG):c.320G>C (p.Arg107Pro)
|
rs373307369
|
|
|
NM_006070.6(TFG):c.324A>G (p.Glu108=)
|
|
|
|
NM_006070.6(TFG):c.325C>T (p.Leu109=)
|
|
|
|
NM_006070.6(TFG):c.330A>G (p.Ile110Met)
|
|
|
|
NM_006070.6(TFG):c.332A>C (p.Glu111Ala)
|
|
|
|
NM_006070.6(TFG):c.338G>T (p.Arg113Leu)
|
|
|
|
NM_006070.6(TFG):c.33A>T (p.Leu11=)
|
|
|
|
NM_006070.6(TFG):c.341A>G (p.Asn114Ser)
|
rs752292956
|
|
|
NM_006070.6(TFG):c.348G>C (p.Val116=)
|
rs1576366448
|
|
|
NM_006070.6(TFG):c.34A>G (p.Ile12Val)
|
rs2149057606
|
|
|
NM_006070.6(TFG):c.352C>T (p.Arg118Cys)
|
|
|
|
NM_006070.6(TFG):c.353G>A (p.Arg118His)
|
rs376804190
|
|
|
NM_006070.6(TFG):c.361G>A (p.Asp121Asn)
|
|
|
|
NM_006070.6(TFG):c.361G>T (p.Asp121Tyr)
|
rs907540820
|
|
|
NM_006070.6(TFG):c.373C>T (p.Pro125Ser)
|
rs746234370
|
|
|
NM_006070.6(TFG):c.37A>G (p.Ile13Val)
|
rs200695895
|
|
|
NM_006070.6(TFG):c.384A>G (p.Glu128=)
|
|
|
|
NM_006070.6(TFG):c.398C>T (p.Thr133Ile)
|
|
|
|
NM_006070.6(TFG):c.403A>G (p.Ile135Val)
|
|
|
|
NM_006070.6(TFG):c.404T>C (p.Ile135Thr)
|
|
|
|
NM_006070.6(TFG):c.415+12del
|
rs765751527
|
|
|
NM_006070.6(TFG):c.415+18T>G
|
rs752417508
|
|
|
NM_006070.6(TFG):c.415+8del
|
rs2149078273
|
|
|
NM_006070.6(TFG):c.416-12C>G
|
rs2149082632
|
|
|
NM_006070.6(TFG):c.416-4A>G
|
|
|
|
NM_006070.6(TFG):c.416-8T>A
|
rs1321102960
|
|
|
NM_006070.6(TFG):c.417T>C (p.Asp139=)
|
|
|
|
NM_006070.6(TFG):c.432G>A (p.Arg144=)
|
|
|
|
NM_006070.6(TFG):c.43G>A (p.Ala15Thr)
|
|
|
|
NM_006070.6(TFG):c.467A>G (p.Gln156Arg)
|
rs1244307042
|
|
|
NM_006070.6(TFG):c.478del (p.Val160fs)
|
rs2149082751
|
|
|
NM_006070.6(TFG):c.483G>A (p.Met161Ile)
|
rs750964585
|
|
|
NM_006070.6(TFG):c.489A>G (p.Ala163=)
|
|
|
|
NM_006070.6(TFG):c.504T>C (p.Phe168=)
|
|
|
|
NM_006070.6(TFG):c.513A>G (p.Leu171=)
|
|
|
|
NM_006070.6(TFG):c.514A>G (p.Lys172Glu)
|
rs2149082817
|
|
|
NM_006070.6(TFG):c.518A>G (p.Asn173Ser)
|
|
|
|
NM_006070.6(TFG):c.524A>G (p.Asp175Gly)
|
|
|
|
NM_006070.6(TFG):c.531C>T (p.Ile177=)
|
rs766735962
|
|
|
NM_006070.6(TFG):c.533A>G (p.Asn178Ser)
|
|
|
|
NM_006070.6(TFG):c.53G>C (p.Gly18Ala)
|
|
|
|
NM_006070.6(TFG):c.541_543del (p.Val181del)
|
|
|
|
NM_006070.6(TFG):c.543T>C (p.Val181=)
|
|
|
|
NM_006070.6(TFG):c.552G>C (p.Ala184=)
|
|
|
|
NM_006070.6(TFG):c.556G>A (p.Gly186Ser)
|
rs867024898
|
|
|
NM_006070.6(TFG):c.565G>A (p.Asp189Asn)
|
|
|
|
NM_006070.6(TFG):c.567T>A (p.Asp189Glu)
|
rs370447670
|
|
|
NM_006070.6(TFG):c.57G>A (p.Glu19=)
|
rs1576353054
|
|
|
NM_006070.6(TFG):c.580+14del
|
|
|
|
NM_006070.6(TFG):c.580+16A>G
|
|
|
|
NM_006070.6(TFG):c.580+19C>T
|
|
|
|
NM_006070.6(TFG):c.581-10G>T
|
|
|
|
NM_006070.6(TFG):c.581-11dup
|
|
|
|
NM_006070.6(TFG):c.581-14_581-11del
|
|
|
|
NM_006070.6(TFG):c.581-24_581-9del
|
|
|
|
NM_006070.6(TFG):c.581-7T>C
|
|
|
|
NM_006070.6(TFG):c.581-8C>A
|
|
|
|
NM_006070.6(TFG):c.581-8C>G
|
|
|
|
NM_006070.6(TFG):c.585A>C (p.Pro195=)
|
|
|
|
NM_006070.6(TFG):c.588C>T (p.Pro196=)
|
rs2149087481
|
|
|
NM_006070.6(TFG):c.597T>C (p.Pro199=)
|
|
|
|
NM_006070.6(TFG):c.600A>G (p.Ala200=)
|
|
|
|
NM_006070.6(TFG):c.61A>G (p.Ile21Val)
|
|
|
|
NM_006070.6(TFG):c.61A>T (p.Ile21Phe)
|
rs377136610
|
|
|
NM_006070.6(TFG):c.621C>G (p.Pro207=)
|
rs141786985
|
|
|
NM_006070.6(TFG):c.622G>A (p.Asp208Asn)
|
rs34112649
|
|
|
NM_006070.6(TFG):c.632C>T (p.Ala211Val)
|
|
|
|
NM_006070.6(TFG):c.636C>T (p.Ser212=)
|
|
|
|
NM_006070.6(TFG):c.638C>G (p.Ser213Cys)
|
rs2095107235
|
|
|
NM_006070.6(TFG):c.641C>G (p.Ser214Cys)
|
|
|
|
NM_006070.6(TFG):c.641C>T (p.Ser214Phe)
|
|
|
|
NM_006070.6(TFG):c.660A>G (p.Pro220=)
|
|
|
|
NM_006070.6(TFG):c.663C>T (p.Gly221=)
|
rs140669729
|
|
|
NM_006070.6(TFG):c.672A>C (p.Pro224=)
|
rs141412018
|
|
|
NM_006070.6(TFG):c.684A>G (p.Pro228=)
|
|
|
|
NM_006070.6(TFG):c.688A>G (p.Thr230Ala)
|
|
|
|
NM_006070.6(TFG):c.689C>A (p.Thr230Lys)
|
|
|
|
NM_006070.6(TFG):c.689C>T (p.Thr230Ile)
|
|
|
|
NM_006070.6(TFG):c.700A>G (p.Thr234Ala)
|
|
|
|
NM_006070.6(TFG):c.701C>T (p.Thr234Ile)
|
|
|
|
NM_006070.6(TFG):c.709G>A (p.Gly237Ser)
|
|
|
|
NM_006070.6(TFG):c.715A>G (p.Ile239Val)
|
|
|
|
NM_006070.6(TFG):c.721+14T>C
|
|
|
|
NM_006070.6(TFG):c.721+14del
|
rs1005708219
|
|
|
NM_006070.6(TFG):c.721+19C>T
|
rs1361371990
|
|
|
NM_006070.6(TFG):c.721+20A>T
|
|
|
|
NM_006070.6(TFG):c.722-10G>C
|
|
|
|
NM_006070.6(TFG):c.722-15T>C
|
|
|
|
NM_006070.6(TFG):c.722-25TG[5]
|
|
|
|
NM_006070.6(TFG):c.722-25TG[6]
|
|
|
|
NM_006070.6(TFG):c.722-5_722-4dup
|
rs1242696461
|
|
|
NM_006070.6(TFG):c.722-8G>A
|
|
|
|
NM_006070.6(TFG):c.726G>T (p.Gln242His)
|
|
|
|
NM_006070.6(TFG):c.729G>A (p.Met243Ile)
|
|
|
|
NM_006070.6(TFG):c.740A>G (p.Tyr247Cys)
|
rs1559723912
|
|
|
NM_006070.6(TFG):c.741C>T (p.Tyr247=)
|
rs1576379547
|
|
|
NM_006070.6(TFG):c.743A>G (p.Gln248Arg)
|
rs1576379554
|
|
|
NM_006070.6(TFG):c.758A>G (p.Tyr253Cys)
|
|
|
|
NM_006070.6(TFG):c.761G>A (p.Gly254Asp)
|
|
|
|
NM_006070.6(TFG):c.766C>A (p.Gln256Lys)
|
|
|
|
NM_006070.6(TFG):c.774G>A (p.Pro258=)
|
rs1367793822
|
|
|
NM_006070.6(TFG):c.774G>C (p.Pro258=)
|
|
|
|
NM_006070.6(TFG):c.776A>G (p.Gln259Arg)
|
rs891678936
|
|
|
NM_006070.6(TFG):c.781C>G (p.Pro261Ala)
|
|
|
|
NM_006070.6(TFG):c.783A>G (p.Pro261=)
|
|
|
|
NM_006070.6(TFG):c.792G>T (p.Gln264His)
|
rs1576379647
|
|
|
NM_006070.6(TFG):c.795T>C (p.Pro265=)
|
|
|
|
NM_006070.6(TFG):c.796C>G (p.Gln266Glu)
|
|
|
|
NM_006070.6(TFG):c.806G>T (p.Gly269Val)
|
rs587777789
|
|
|
NM_006070.6(TFG):c.808A>C (p.Ile270Leu)
|
|
|
|
NM_006070.6(TFG):c.80A>G (p.His27Arg)
|
|
|
|
NM_006070.6(TFG):c.820+15_820+19del
|
|
|
|
NM_006070.6(TFG):c.820+18G>A
|
|
|
|
NM_006070.6(TFG):c.820+19G>C
|
|
|
|
NM_006070.6(TFG):c.820+8G>A
|
rs2149096879
|
|
|
NM_006070.6(TFG):c.821-14T>C
|
|
|
|
NM_006070.6(TFG):c.821-18T>C
|
rs756950367
|
|
|
NM_006070.6(TFG):c.821-18_821-16del
|
rs2149105617
|
|
|
NM_006070.6(TFG):c.821-20T>A
|
rs2149105586
|
|
|
NM_006070.6(TFG):c.821-21T>G
|
|
|
|
NM_006070.6(TFG):c.821-5T>C
|
rs2149105737
|
|
|
NM_006070.6(TFG):c.826T>C (p.Tyr276His)
|
rs1559726842
|
|
|
NM_006070.6(TFG):c.827A>G (p.Tyr276Cys)
|
|
|
|
NM_006070.6(TFG):c.830G>A (p.Ser277Asn)
|
|
|
|
NM_006070.6(TFG):c.833A>C (p.Gln278Pro)
|
|
|
|
NM_006070.6(TFG):c.845_846delinsTC (p.Pro282Leu)
|
|
|
|
NM_006070.6(TFG):c.851A>C (p.Gln284Pro)
|
|
|
|
NM_006070.6(TFG):c.854C>T (p.Pro285Leu)
|
rs207482230
|
|
|
NM_006070.6(TFG):c.870A>G (p.Gly290=)
|
rs2095153634
|
|
|
NM_006070.6(TFG):c.870A>T (p.Gly290=)
|
|
|
|
NM_006070.6(TFG):c.874G>A (p.Gly292Ser)
|
rs1053918783
|
|
|
NM_006070.6(TFG):c.875G>C (p.Gly292Ala)
|
|
|
|
NM_006070.6(TFG):c.880C>A (p.Gln294Lys)
|
|
|
|
NM_006070.6(TFG):c.889del (p.Ser297fs)
|
|
|
|
NM_006070.6(TFG):c.898C>A (p.Pro300Thr)
|
rs1210008384
|
|
|
NM_006070.6(TFG):c.898C>T (p.Pro300Ser)
|
rs1210008384
|
|
|
NM_006070.6(TFG):c.908C>T (p.Ala303Val)
|
rs1576389064
|
|
|
NM_006070.6(TFG):c.914C>G (p.Ser305Cys)
|
|
|
|
NM_006070.6(TFG):c.923C>G (p.Pro308Arg)
|
rs2149106095
|
|
|
NM_006070.6(TFG):c.923C>T (p.Pro308Leu)
|
|
|
|
NM_006070.6(TFG):c.925C>G (p.Gln309Glu)
|
|
|
|
NM_006070.6(TFG):c.927A>G (p.Gln309=)
|
|
|
|
NM_006070.6(TFG):c.928C>A (p.Gln310Lys)
|
|
|
|
NM_006070.6(TFG):c.933G>A (p.Leu311=)
|
|
|
|
NM_006070.6(TFG):c.933G>T (p.Leu311=)
|
rs2149106140
|
|
|
NM_006070.6(TFG):c.939T>C (p.Ala313=)
|
|
|
|
NM_006070.6(TFG):c.943C>T (p.Pro315Ser)
|
rs1553704852
|
|
|
NM_006070.6(TFG):c.954G>A (p.Gln318=)
|
|
|
|
NM_006070.6(TFG):c.960G>T (p.Gln320His)
|
|
|
|
NM_006070.6(TFG):c.962C>G (p.Ala321Gly)
|
|
|
|
NM_006070.6(TFG):c.968A>G (p.Asn323Ser)
|
|
|
|
NM_006070.6(TFG):c.971dup (p.Tyr324Ter)
|
|
|
|
NM_006070.6(TFG):c.976G>T (p.Ala326Ser)
|
rs776620173
|
|
|
NM_006070.6(TFG):c.97T>C (p.Tyr33His)
|
rs2095037556
|
|
|
NM_006070.6(TFG):c.980A>G (p.Gln327Arg)
|
rs1431898500
|
|
|
NM_006070.6(TFG):c.986A>C (p.Tyr329Ser)
|
|
|
|
NM_006070.6(TFG):c.986dup (p.Tyr329Ter)
|
rs2095154725
|
|
|
NM_006070.6(TFG):c.987C>T (p.Tyr329=)
|
rs1362903359
|
|
|
NM_006070.6(TFG):c.98A>G (p.Tyr33Cys)
|
rs763523148
|
|
|
NM_006070.6(TFG):c.993C>G (p.Ala331=)
|
|
|
|
NM_006070.6(TFG):c.993C>T (p.Ala331=)
|
rs1490621305
|
|
|
NM_006070.6(TFG):c.995A>G (p.Gln332Arg)
|
|
|
|
NM_006070.6(TFG):c.99T>A (p.Tyr33Ter)
|
|
|
|
NM_006070.6(TFG):c.99T>C (p.Tyr33=)
|
|
|
|
NM_006070.6(TFG):c.9_10delinsGA (p.Gln4Lys)
|
rs2095037361
|
|
|
NM_006459.4(ERLIN1):c.*1247T>C
|
rs2134087908
|
|
|
NM_006459.4(ERLIN1):c.*1251A>G
|
rs2134087898
|
|
|
NM_006459.4(ERLIN1):c.1018G>A (p.Val340Ile)
|
|
|
|
NM_006459.4(ERLIN1):c.1026A>G (p.Gln342=)
|
|
|
|
NM_006459.4(ERLIN1):c.1036A>C (p.Ser346Arg)
|
|
|
|
NM_006459.4(ERLIN1):c.113+14G>T
|
|
|
|
NM_006459.4(ERLIN1):c.113+16A>G
|
|
|
|
NM_006459.4(ERLIN1):c.113+20A>G
|
|
|
|
NM_006459.4(ERLIN1):c.114-16A>G
|
|
|
|
NM_006459.4(ERLIN1):c.149G>T (p.Gly50Val)
|
rs876661322
|
|
|
NM_006459.4(ERLIN1):c.160A>G (p.Met54Val)
|
|
|
|
NM_006459.4(ERLIN1):c.162G>T (p.Met54Ile)
|
rs1844798250
|
|
|
NM_006459.4(ERLIN1):c.179C>T (p.Thr60Met)
|
|
|
|
NM_006459.4(ERLIN1):c.196-1G>A
|
|
|
|
NM_006459.4(ERLIN1):c.196-4C>G
|
|
|
|
NM_006459.4(ERLIN1):c.198A>G (p.Thr66=)
|
|
|
|
NM_006459.4(ERLIN1):c.207A>G (p.Gln69=)
|
|
|
|
NM_006459.4(ERLIN1):c.225T>C (p.Asn75=)
|
|
|
|
NM_006459.4(ERLIN1):c.237A>T (p.Gly79=)
|
|
|
|
NM_006459.4(ERLIN1):c.242+20A>G
|
rs1405477765
|
|
|
NM_006459.4(ERLIN1):c.242+3A>C
|
|
|
|
NM_006459.4(ERLIN1):c.243-5T>C
|
|
|
|
NM_006459.4(ERLIN1):c.269G>A (p.Arg90Gln)
|
|
|
|
NM_006459.4(ERLIN1):c.269G>T (p.Arg90Leu)
|
rs779963349
|
|
|
NM_006459.4(ERLIN1):c.27G>C (p.Leu9=)
|
|
|
|
NM_006459.4(ERLIN1):c.284A>G (p.Asn95Ser)
|
rs2134169468
|
|
|
NM_006459.4(ERLIN1):c.372T>C (p.His124=)
|
|
|
|
NM_006459.4(ERLIN1):c.430+15T>C
|
|
|
|
NM_006459.4(ERLIN1):c.430+20T>C
|
|
|
|
NM_006459.4(ERLIN1):c.430+3_430+6del
|
rs2134163259
|
|
|
NM_006459.4(ERLIN1):c.431-13G>C
|
|
|
|
NM_006459.4(ERLIN1):c.471C>G (p.Asp157Glu)
|
rs1844166742
|
|
|
NM_006459.4(ERLIN1):c.480C>A (p.Leu160=)
|
|
|
|
NM_006459.4(ERLIN1):c.504+8C>A
|
|
|
|
NM_006459.4(ERLIN1):c.563+1G>A
|
|
|
|
NM_006459.4(ERLIN1):c.564-20T>C
|
|
|
|
NM_006459.4(ERLIN1):c.564-20_564-18del
|
rs2134127478
|
|
|
NM_006459.4(ERLIN1):c.609G>C (p.Lys203Asn)
|
|
|
|
NM_006459.4(ERLIN1):c.60G>C (p.Leu20=)
|
|
|
|
NM_006459.4(ERLIN1):c.610G>A (p.Val204Ile)
|
rs1589525631
|
|
|
NM_006459.4(ERLIN1):c.653T>C (p.Ile218Thr)
|
rs1363645775
|
|
|
NM_006459.4(ERLIN1):c.655+17G>A
|
|
|
|
NM_006459.4(ERLIN1):c.656-20_656-18del
|
rs548789974
|
|
|
NM_006459.4(ERLIN1):c.668T>C (p.Ile223Thr)
|
|
|
|
NM_006459.4(ERLIN1):c.669T>C (p.Ile223=)
|
|
|
|
NM_006459.4(ERLIN1):c.713A>T (p.Lys238Ile)
|
|
|
|
NM_006459.4(ERLIN1):c.72C>T (p.Ser24=)
|
|
|
|
NM_006459.4(ERLIN1):c.741C>G (p.Ile247Met)
|
|
|
|
NM_006459.4(ERLIN1):c.745+18G>A
|
|
|
|
NM_006459.4(ERLIN1):c.746-9A>G
|
|
|
|
NM_006459.4(ERLIN1):c.753del (p.Phe252fs)
|
rs2134100639
|
|
|
NM_006459.4(ERLIN1):c.760G>T (p.Ala254Ser)
|
|
|
|
NM_006459.4(ERLIN1):c.774G>A (p.Ala258=)
|
|
|
|
NM_006459.4(ERLIN1):c.799G>A (p.Ala267Thr)
|
rs1244277642
|
|
|
NM_006459.4(ERLIN1):c.79A>G (p.Lys27Glu)
|
rs1199328865
|
|
|
NM_006459.4(ERLIN1):c.810T>C (p.Tyr270=)
|
|
|
|
NM_006459.4(ERLIN1):c.816C>T (p.Thr272=)
|
|
|
|
NM_006459.4(ERLIN1):c.825+8G>A
|
|
|
|
NM_006459.4(ERLIN1):c.826-10T>C
|
|
|
|
NM_006459.4(ERLIN1):c.826-7del
|
|
|
|
NM_006459.4(ERLIN1):c.840G>A (p.Pro280=)
|
|
|
|
NM_006459.4(ERLIN1):c.855C>G (p.Leu285=)
|
|
|
|
NM_006459.4(ERLIN1):c.874G>T (p.Ala292Ser)
|
|
|
|
NM_006459.4(ERLIN1):c.907A>G (p.Ile303Val)
|
|
|
|
NM_006517.5(SLC16A2):c.1111C>T (p.Arg371Cys)
|
rs587784384
|
|
|
NM_006517.5(SLC16A2):c.1231G>A (p.Gly411Arg)
|
rs147814121
|
|
|
NM_006517.5(SLC16A2):c.377C>A (p.Ser126Tyr)
|
rs1555979601
|
|
|
NM_006567.5(FARS2):c.1004A>T (p.Glu335Val)
|
rs1770898891
|
|
|
NM_006567.5(FARS2):c.1057A>C (p.Lys353Gln)
|
rs762302341
|
|
|
NM_006567.5(FARS2):c.422G>A (p.Gly141Glu)
|
rs755563264
|
|
|
NM_006567.5(FARS2):c.424G>T (p.Asp142Tyr)
|
rs145555213
|
|
|
NM_006567.5(FARS2):c.476A>C (p.His159Pro)
|
rs1561990390
|
|
|
NM_006567.5(FARS2):c.515TGG[2] (p.Val174del)
|
rs1554169392
|
|
|
NM_006567.5(FARS2):c.839A>G (p.Asn280Ser)
|
rs11243011
|
|
|
NM_006567.5(FARS2):c.862G>C (p.Val288Leu)
|
|
|
|
NM_006594.5:c.667del
|
rs2101027843
|
|
|
NM_006612.6(KIF1C):c.1005T>G (p.Thr335=)
|
rs763806162
|
|
|
NM_006612.6(KIF1C):c.1009A>G (p.Ser337Gly)
|
|
|
|
NM_006612.6(KIF1C):c.1019+1dup
|
rs2143323595
|
|
|
NM_006612.6(KIF1C):c.1019+5G>A
|
|
|
|
NM_006612.6(KIF1C):c.1020-16C>T
|
|
|
|
NM_006612.6(KIF1C):c.1020-2A>G
|
|
|
|
NM_006612.6(KIF1C):c.1020-4C>T
|
|
|
|
NM_006612.6(KIF1C):c.1020G>A (p.Arg340=)
|
|
|
|
NM_006612.6(KIF1C):c.1029C>T (p.Asp343=)
|
|
|
|
NM_006612.6(KIF1C):c.106+15G>A
|
|
|
|
NM_006612.6(KIF1C):c.1062C>G (p.Ile354Met)
|
|
|
|
NM_006612.6(KIF1C):c.107-16C>T
|
|
|
|
NM_006612.6(KIF1C):c.107-5C>T
|
rs2143306363
|
|
|
NM_006612.6(KIF1C):c.107-7C>T
|
|
|
|
NM_006612.6(KIF1C):c.1078G>A (p.Ala360Thr)
|
|
|
|
NM_006612.6(KIF1C):c.1079C>A (p.Ala360Asp)
|
|
|
|
NM_006612.6(KIF1C):c.109A>G (p.Ile37Val)
|
|
|
|
NM_006612.6(KIF1C):c.10G>T (p.Ala4Ser)
|
|
|
|
NM_006612.6(KIF1C):c.1104G>A (p.Glu368=)
|
rs1373839678
|
|
|
NM_006612.6(KIF1C):c.1131G>C (p.Leu377=)
|
|
|
|
NM_006612.6(KIF1C):c.1134G>A (p.Met378Ile)
|
|
|
|
NM_006612.6(KIF1C):c.1140G>C (p.Gln380His)
|
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|
|
NM_006612.6(KIF1C):c.114C>T (p.Ile38=)
|
rs377337240
|
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NM_006612.6(KIF1C):c.1165+12A>G
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NM_006612.6(KIF1C):c.1165+16A>T
|
rs2143325151
|
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NM_006612.6(KIF1C):c.1165+17G>C
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NM_006612.6(KIF1C):c.1166-19T>C
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NM_006612.6(KIF1C):c.1166-2A>T
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NM_006612.6(KIF1C):c.1176G>A (p.Thr392=)
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NM_006612.6(KIF1C):c.1179A>G (p.Glu393=)
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NM_006612.6(KIF1C):c.1189G>A (p.Val397Ile)
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NM_006612.6(KIF1C):c.1200C>T (p.Ala400=)
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NM_006612.6(KIF1C):c.1223C>A (p.Pro408Gln)
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NM_006612.6(KIF1C):c.1238C>T (p.Pro413Leu)
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NM_006612.6(KIF1C):c.1239C>G (p.Pro413=)
|
rs2143331394
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NM_006612.6(KIF1C):c.1247C>T (p.Pro416Leu)
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NM_006612.6(KIF1C):c.1267C>G (p.Leu423Val)
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NM_006612.6(KIF1C):c.1274C>T (p.Pro425Leu)
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NM_006612.6(KIF1C):c.1275G>A (p.Pro425=)
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NM_006612.6(KIF1C):c.1277C>T (p.Ser426Leu)
|
rs2143331530
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NM_006612.6(KIF1C):c.1302G>C (p.Gln434His)
|
rs144939400
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NM_006612.6(KIF1C):c.1302G>T (p.Gln434His)
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NM_006612.6(KIF1C):c.1308G>A (p.Gly436=)
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NM_006612.6(KIF1C):c.1323G>T (p.Met441Ile)
|
rs1567722733
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NM_006612.6(KIF1C):c.1335+11G>A
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NM_006612.6(KIF1C):c.1336-18C>T
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NM_006612.6(KIF1C):c.1336-3C>T
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NM_006612.6(KIF1C):c.1356T>C (p.Ala452=)
|
rs781761447
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NM_006612.6(KIF1C):c.1396_1397del (p.Glu466fs)
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NM_006612.6(KIF1C):c.1415+12G>A
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NM_006612.6(KIF1C):c.1415+18T>G
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NM_006612.6(KIF1C):c.1415+8G>T
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NM_006612.6(KIF1C):c.1416-11T>C
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NM_006612.6(KIF1C):c.1428G>A (p.Leu476=)
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NM_006612.6(KIF1C):c.1449C>T (p.Val483=)
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NM_006612.6(KIF1C):c.1487A>G (p.Lys496Arg)
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NM_006612.6(KIF1C):c.1491+14C>T
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NM_006612.6(KIF1C):c.1491+18C>T
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NM_006612.6(KIF1C):c.1491+19G>A
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NM_006612.6(KIF1C):c.1491+2T>C
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NM_006612.6(KIF1C):c.1492-14C>T
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NM_006612.6(KIF1C):c.1492-19C>T
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NM_006612.6(KIF1C):c.1492-7C>T
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NM_006612.6(KIF1C):c.152C>T (p.Thr51Ile)
|
rs771071450
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NM_006612.6(KIF1C):c.1545C>T (p.Leu515=)
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NM_006612.6(KIF1C):c.1571+16C>T
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NM_006612.6(KIF1C):c.1571+17G>A
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NM_006612.6(KIF1C):c.1571+20C>A
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NM_006612.6(KIF1C):c.1571+3A>G
|
rs2143354334
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NM_006612.6(KIF1C):c.1571+8G>T
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NM_006612.6(KIF1C):c.1571+9T>C
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NM_006612.6(KIF1C):c.1572-5C>T
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NM_006612.6(KIF1C):c.1598A>G (p.Lys533Arg)
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NM_006612.6(KIF1C):c.15G>A (p.Ser5=)
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NM_006612.6(KIF1C):c.1618C>T (p.Arg540Trp)
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NM_006612.6(KIF1C):c.1619G>A (p.Arg540Gln)
|
rs1013580197
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NM_006612.6(KIF1C):c.1623G>A (p.Glu541=)
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NM_006612.6(KIF1C):c.162C>T (p.Tyr54=)
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NM_006612.6(KIF1C):c.1640G>A (p.Arg547Gln)
|
rs764242002
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NM_006612.6(KIF1C):c.1640G>T (p.Arg547Leu)
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NM_006612.6(KIF1C):c.1660G>A (p.Gly554Arg)
|
rs1485258329
|
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NM_006612.6(KIF1C):c.1666+13G>C
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NM_006612.6(KIF1C):c.1666+15G>A
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NM_006612.6(KIF1C):c.1666+18GA[2]
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NM_006612.6(KIF1C):c.1666+9T>C
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NM_006612.6(KIF1C):c.1667-12C>T
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NM_006612.6(KIF1C):c.1667-16C>A
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NM_006612.6(KIF1C):c.1667-8C>G
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NM_006612.6(KIF1C):c.1707T>C (p.Tyr569=)
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NM_006612.6(KIF1C):c.1727C>T (p.Thr576Met)
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NM_006612.6(KIF1C):c.1741C>T (p.Leu581=)
|
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|
NM_006612.6(KIF1C):c.1750+6_1750+8del
|
rs551276433
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NM_006612.6(KIF1C):c.1750G>A (p.Gly584Arg)
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NM_006612.6(KIF1C):c.1751-12T>C
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NM_006612.6(KIF1C):c.1751-12_1751-10del
|
rs756711554
|
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NM_006612.6(KIF1C):c.1767G>A (p.Met589Ile)
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NM_006612.6(KIF1C):c.1779C>T (p.His593=)
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NM_006612.6(KIF1C):c.177C>T (p.His59=)
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NM_006612.6(KIF1C):c.1800G>A (p.Pro600=)
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NM_006612.6(KIF1C):c.180T>C (p.Thr60=)
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NM_006612.6(KIF1C):c.1819C>T (p.Arg607Trp)
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NM_006612.6(KIF1C):c.183+20dup
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NM_006612.6(KIF1C):c.1836C>T (p.Pro612=)
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NM_006612.6(KIF1C):c.183G>A (p.Ser61=)
|
rs886041035
|
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NM_006612.6(KIF1C):c.184-13C>A
|
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NM_006612.6(KIF1C):c.184-13C>T
|
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NM_006612.6(KIF1C):c.184-20C>G
|
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NM_006612.6(KIF1C):c.1851G>A (p.Pro617=)
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|
NM_006612.6(KIF1C):c.1852C>T (p.Pro618Ser)
|
rs1975068657
|
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|
NM_006612.6(KIF1C):c.185C>T (p.Thr62Met)
|
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|
NM_006612.6(KIF1C):c.1866C>T (p.Val622=)
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NM_006612.6(KIF1C):c.1937+20G>A
|
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NM_006612.6(KIF1C):c.1937+4C>T
|
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NM_006612.6(KIF1C):c.1937+5G>A
|
rs1393131804
|
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NM_006612.6(KIF1C):c.1938-13del
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NM_006612.6(KIF1C):c.1938-14C>T
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NM_006612.6(KIF1C):c.1963C>T (p.Arg655Trp)
|
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NM_006612.6(KIF1C):c.1984G>A (p.Asp662Asn)
|
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|
NM_006612.6(KIF1C):c.2005C>T (p.Arg669Ter)
|
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|
NM_006612.6(KIF1C):c.2010+4A>C
|
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NM_006612.6(KIF1C):c.2010+8G>A
|
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|
NM_006612.6(KIF1C):c.2011-5C>T
|
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|
NM_006612.6(KIF1C):c.2011-7G>A
|
rs764606462
|
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|
NM_006612.6(KIF1C):c.2048G>A (p.Arg683His)
|
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|
NM_006612.6(KIF1C):c.2070G>A (p.Arg690=)
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NM_006612.6(KIF1C):c.2100G>A (p.Pro700=)
|
rs763581921
|
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|
NM_006612.6(KIF1C):c.2129G>A (p.Arg710His)
|
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|
NM_006612.6(KIF1C):c.2167C>T (p.Arg723Cys)
|
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|
NM_006612.6(KIF1C):c.2184C>A (p.Ile728=)
|
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|
NM_006612.6(KIF1C):c.2187C>G (p.Pro729=)
|
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|
NM_006612.6(KIF1C):c.2191C>T (p.Arg731Ter)
|
rs587777197
|
|
|
NM_006612.6(KIF1C):c.2202G>T (p.Leu734=)
|
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|
|
NM_006612.6(KIF1C):c.2216C>G (p.Pro739Arg)
|
rs376385209
|
|
|
NM_006612.6(KIF1C):c.2218C>T (p.Arg740Cys)
|
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|
NM_006612.6(KIF1C):c.2220C>A (p.Arg740=)
|
rs534107875
|
|
|
NM_006612.6(KIF1C):c.2220C>G (p.Arg740=)
|
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|
NM_006612.6(KIF1C):c.2229C>T (p.Thr743=)
|
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|
NM_006612.6(KIF1C):c.223C>T (p.Arg75Trp)
|
rs201085674
|
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|
NM_006612.6(KIF1C):c.2250G>A (p.Gln750=)
|
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|
|
NM_006612.6(KIF1C):c.2271C>T (p.Tyr757=)
|
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|
|
NM_006612.6(KIF1C):c.2272G>C (p.Glu758Gln)
|
|
|
|
NM_006612.6(KIF1C):c.2301G>A (p.Gly767=)
|
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|
NM_006612.6(KIF1C):c.2322G>C (p.Leu774=)
|
rs747862350
|
|
|
NM_006612.6(KIF1C):c.2339G>A (p.Arg780Gln)
|
|
|
|
NM_006612.6(KIF1C):c.2370C>T (p.Asp790=)
|
|
|
|
NM_006612.6(KIF1C):c.2371G>A (p.Gly791Ser)
|
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|
|
NM_006612.6(KIF1C):c.2382C>T (p.Asp794=)
|
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|
|
NM_006612.6(KIF1C):c.238del (p.Glu80fs)
|
|
|
|
NM_006612.6(KIF1C):c.2425G>C (p.Glu809Gln)
|
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|
|
NM_006612.6(KIF1C):c.2434G>C (p.Gly812Arg)
|
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|
|
NM_006612.6(KIF1C):c.2439T>C (p.Gly813=)
|
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|
|
NM_006612.6(KIF1C):c.2468A>T (p.Glu823Val)
|
|
|
|
NM_006612.6(KIF1C):c.2476C>G (p.Arg826Gly)
|
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|
|
NM_006612.6(KIF1C):c.2478del (p.Ala828fs)
|
rs1131690773
|
|
|
NM_006612.6(KIF1C):c.2484G>A (p.Ala828=)
|
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|
|
NM_006612.6(KIF1C):c.2508C>T (p.His836=)
|
|
|
|
NM_006612.6(KIF1C):c.2511C>T (p.Ile837=)
|
|
|
|
NM_006612.6(KIF1C):c.2512G>T (p.Asp838Tyr)
|
|
|
|
NM_006612.6(KIF1C):c.2516A>G (p.Lys839Arg)
|
|
|
|
NM_006612.6(KIF1C):c.2523G>C (p.Thr841=)
|
rs747321053
|
|
|
NM_006612.6(KIF1C):c.252C>T (p.His84=)
|
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|
|
NM_006612.6(KIF1C):c.2535G>A (p.Gln845=)
|
|
|
|
NM_006612.6(KIF1C):c.2545C>T (p.Leu849=)
|
rs202226954
|
|
|
NM_006612.6(KIF1C):c.255C>G (p.Ala85=)
|
|
|
|
NM_006612.6(KIF1C):c.2566C>T (p.Arg856Trp)
|
|
|
|
NM_006612.6(KIF1C):c.2584C>T (p.Arg862Trp)
|
|
|
|
NM_006612.6(KIF1C):c.2597T>A (p.Leu866His)
|
rs2143389526
|
|
|
NM_006612.6(KIF1C):c.2599C>T (p.Arg867Cys)
|
|
|
|
NM_006612.6(KIF1C):c.2600G>C (p.Arg867Pro)
|
|
|
|
NM_006612.6(KIF1C):c.2601C>T (p.Arg867=)
|
|
|
|
NM_006612.6(KIF1C):c.2628+15C>T
|
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|
|
NM_006612.6(KIF1C):c.2628+17G>T
|
|
|
|
NM_006612.6(KIF1C):c.2633A>G (p.His878Arg)
|
rs2143392214
|
|
|
NM_006612.6(KIF1C):c.2646_2647delinsCC (p.Glu883Gln)
|
|
|
|
NM_006612.6(KIF1C):c.2650G>A (p.Glu884Lys)
|
rs1297313354
|
|
|
NM_006612.6(KIF1C):c.2666C>T (p.Pro889Leu)
|
|
|
|
NM_006612.6(KIF1C):c.270C>T (p.Asn90=)
|
rs535190367
|
|
|
NM_006612.6(KIF1C):c.271G>A (p.Val91Met)
|
|
|
|
NM_006612.6(KIF1C):c.2726C>A (p.Pro909Gln)
|
rs78970955
|
|
|
NM_006612.6(KIF1C):c.2737C>T (p.Pro913Ser)
|
|
|
|
NM_006612.6(KIF1C):c.2740C>T (p.Pro914Ser)
|
rs2143392621
|
|
|
NM_006612.6(KIF1C):c.2745G>A (p.Ser915=)
|
|
|
|
NM_006612.6(KIF1C):c.2748_2749delinsGA (p.Pro917Thr)
|
rs1555571945
|
|
|
NM_006612.6(KIF1C):c.2781C>T (p.Leu927=)
|
|
|
|
NM_006612.6(KIF1C):c.2799C>T (p.Ala933=)
|
|
|
|
NM_006612.6(KIF1C):c.2833G>A (p.Glu945Lys)
|
|
|
|
NM_006612.6(KIF1C):c.2847G>T (p.Leu949=)
|
|
|
|
NM_006612.6(KIF1C):c.2850G>A (p.Gln950=)
|
|
|
|
NM_006612.6(KIF1C):c.2853_2861del (p.949LQG[1])
|
|
|
|
NM_006612.6(KIF1C):c.2872C>T (p.Arg958Trp)
|
|
|
|
NM_006612.6(KIF1C):c.2878G>C (p.Gly960Arg)
|
|
|
|
NM_006612.6(KIF1C):c.2880G>A (p.Gly960=)
|
|
|
|
NM_006612.6(KIF1C):c.2883G>C (p.Gly961=)
|
|
|
|
NM_006612.6(KIF1C):c.2885_2895del (p.Leu962fs)
|
|
|
|
NM_006612.6(KIF1C):c.2902C>A (p.Arg968Ser)
|
|
|
|
NM_006612.6(KIF1C):c.2908G>A (p.Val970Met)
|
|
|
|
NM_006612.6(KIF1C):c.2911C>A (p.Pro971Thr)
|
|
|
|
NM_006612.6(KIF1C):c.2913C>T (p.Pro971=)
|
rs1975145101
|
|
|
NM_006612.6(KIF1C):c.2919C>T (p.His973=)
|
|
|
|
NM_006612.6(KIF1C):c.2934C>G (p.Arg978=)
|
|
|
|
NM_006612.6(KIF1C):c.2949C>G (p.Ser983Arg)
|
rs2143393636
|
|
|
NM_006612.6(KIF1C):c.2951A>C (p.Asn984Thr)
|
rs372031774
|
|
|
NM_006612.6(KIF1C):c.2961C>G (p.His987Gln)
|
rs1975146105
|
|
|
NM_006612.6(KIF1C):c.2963G>A (p.Arg988Gln)
|
|
|
|
NM_006612.6(KIF1C):c.297C>T (p.Thr99=)
|
|
|
|
NM_006612.6(KIF1C):c.2988C>T (p.Ser996=)
|
|
|
|
NM_006612.6(KIF1C):c.3024G>A (p.Glu1008=)
|
|
|
|
NM_006612.6(KIF1C):c.3027C>G (p.Val1009=)
|
|
|
|
NM_006612.6(KIF1C):c.3049G>T (p.Ala1017Ser)
|
|
|
|
NM_006612.6(KIF1C):c.3050C>T (p.Ala1017Val)
|
rs2143394246
|
|
|
NM_006612.6(KIF1C):c.3052C>T (p.Arg1018Cys)
|
|
|
|
NM_006612.6(KIF1C):c.3055C>T (p.Arg1019Trp)
|
|
|
|
NM_006612.6(KIF1C):c.3063G>A (p.Pro1021=)
|
|
|
|
NM_006612.6(KIF1C):c.3071G>C (p.Arg1024Pro)
|
|
|
|
NM_006612.6(KIF1C):c.3082C>T (p.His1028Tyr)
|
|
|
|
NM_006612.6(KIF1C):c.3084T>C (p.His1028=)
|
|
|
|
NM_006612.6(KIF1C):c.3086C>T (p.Pro1029Leu)
|
|
|
|
NM_006612.6(KIF1C):c.3089G>A (p.Arg1030His)
|
|
|
|
NM_006612.6(KIF1C):c.3090C>T (p.Arg1030=)
|
|
|
|
NM_006612.6(KIF1C):c.3116G>A (p.Arg1039Gln)
|
|
|
|
NM_006612.6(KIF1C):c.311C>T (p.Ser104Phe)
|
rs572156268
|
|
|
NM_006612.6(KIF1C):c.3120C>T (p.Ser1040=)
|
|
|
|
NM_006612.6(KIF1C):c.3123G>C (p.Arg1041=)
|
|
|
|
NM_006612.6(KIF1C):c.3127G>A (p.Ala1043Thr)
|
rs1199087791
|
|
|
NM_006612.6(KIF1C):c.3129G>A (p.Ala1043=)
|
|
|
|
NM_006612.6(KIF1C):c.3129G>C (p.Ala1043=)
|
|
|
|
NM_006612.6(KIF1C):c.3140A>G (p.Gln1047Arg)
|
rs1240123302
|
|
|
NM_006612.6(KIF1C):c.318C>A (p.Thr106=)
|
|
|
|
NM_006612.6(KIF1C):c.3219C>T (p.Pro1073=)
|
|
|
|
NM_006612.6(KIF1C):c.3229C>T (p.Arg1077Cys)
|
|
|
|
NM_006612.6(KIF1C):c.3236C>A (p.Pro1079His)
|
rs1975155981
|
|
|
NM_006612.6(KIF1C):c.3237C>T (p.Pro1079=)
|
|
|
|
NM_006612.6(KIF1C):c.3239C>G (p.Pro1080Arg)
|
|
|
|
NM_006612.6(KIF1C):c.3239del (p.Pro1080fs)
|
rs753993722
|
|
|
NM_006612.6(KIF1C):c.3252C>T (p.Pro1084=)
|
|
|
|
NM_006612.6(KIF1C):c.3253C>T (p.Pro1085Ser)
|
|
|
|
NM_006612.6(KIF1C):c.3256C>T (p.Arg1086Ter)
|
|
|
|
NM_006612.6(KIF1C):c.3265C>T (p.Arg1089Trp)
|
|
|
|
NM_006612.6(KIF1C):c.328C>T (p.Arg110Ter)
|
|
|
|
NM_006612.6(KIF1C):c.3292G>A (p.Glu1098Lys)
|
rs1975158981
|
|
|
NM_006612.6(KIF1C):c.334G>A (p.Glu112Lys)
|
|
|
|
NM_006612.6(KIF1C):c.355G>A (p.Val119Met)
|
|
|
|
NM_006612.6(KIF1C):c.363+18T>C
|
|
|
|
NM_006612.6(KIF1C):c.364-17C>T
|
|
|
|
NM_006612.6(KIF1C):c.364-18C>T
|
|
|
|
NM_006612.6(KIF1C):c.364-9C>T
|
|
|
|
NM_006612.6(KIF1C):c.366C>T (p.Leu122=)
|
|
|
|
NM_006612.6(KIF1C):c.385C>T (p.Arg129Cys)
|
rs745851014
|
|
|
NM_006612.6(KIF1C):c.386G>A (p.Arg129His)
|
|
|
|
NM_006612.6(KIF1C):c.390T>A (p.Val130=)
|
rs1567719808
|
|
|
NM_006612.6(KIF1C):c.399C>T (p.Asn133=)
|
|
|
|
NM_006612.6(KIF1C):c.416C>G (p.Ser139Cys)
|
|
|
|
NM_006612.6(KIF1C):c.41C>T (p.Pro14Leu)
|
|
|
|
NM_006612.6(KIF1C):c.429+15T>C
|
|
|
|
NM_006612.6(KIF1C):c.430-6A>G
|
|
|
|
NM_006612.6(KIF1C):c.445A>T (p.Ile149Phe)
|
rs2143312682
|
|
|
NM_006612.6(KIF1C):c.450C>T (p.Tyr150=)
|
|
|
|
NM_006612.6(KIF1C):c.456G>A (p.Glu152=)
|
|
|
|
NM_006612.6(KIF1C):c.463C>G (p.Arg155Gly)
|
rs1291871672
|
|
|
NM_006612.6(KIF1C):c.468C>T (p.Asp156=)
|
|
|
|
NM_006612.6(KIF1C):c.486T>C (p.Ser162=)
|
|
|
|
NM_006612.6(KIF1C):c.487C>T (p.Arg163Trp)
|
|
|
|
NM_006612.6(KIF1C):c.48C>T (p.Asn16=)
|
|
|
|
NM_006612.6(KIF1C):c.51C>T (p.Ala17=)
|
rs958316030
|
|
|
NM_006612.6(KIF1C):c.534G>T (p.Val178=)
|
|
|
|
NM_006612.6(KIF1C):c.53G>A (p.Arg18His)
|
|
|
|
NM_006612.6(KIF1C):c.548A>C (p.Lys183Thr)
|
rs1974623326
|
|
|
NM_006612.6(KIF1C):c.549A>G (p.Lys183=)
|
|
|
|
NM_006612.6(KIF1C):c.561C>T (p.Thr187=)
|
|
|
|
NM_006612.6(KIF1C):c.564C>T (p.Ser188=)
|
|
|
|
NM_006612.6(KIF1C):c.567C>T (p.Tyr189=)
|
|
|
|
NM_006612.6(KIF1C):c.588G>T (p.Met196Ile)
|
|
|
|
NM_006612.6(KIF1C):c.601_604del (p.Lys201fs)
|
rs2143313439
|
|
|
NM_006612.6(KIF1C):c.608+2_608+3dup
|
rs1597841997
|
|
|
NM_006612.6(KIF1C):c.608+6G>A
|
rs2143313510
|
|
|
NM_006612.6(KIF1C):c.608+9G>C
|
|
|
|
NM_006612.6(KIF1C):c.608G>A (p.Arg203Gln)
|
|
|
|
NM_006612.6(KIF1C):c.609-9T>C
|
|
|
|
NM_006612.6(KIF1C):c.647G>A (p.Arg216His)
|
|
|
|
NM_006612.6(KIF1C):c.651C>T (p.Ser217=)
|
|
|
|
NM_006612.6(KIF1C):c.657C>A (p.Ala219=)
|
rs372650678
|
|
|
NM_006612.6(KIF1C):c.657C>T (p.Ala219=)
|
|
|
|
NM_006612.6(KIF1C):c.683G>A (p.Arg228His)
|
|
|
|
NM_006612.6(KIF1C):c.702G>A (p.Thr234=)
|
|
|
|
NM_006612.6(KIF1C):c.702G>C (p.Thr234=)
|
rs150944204
|
|
|
NM_006612.6(KIF1C):c.713C>T (p.Ser238Leu)
|
|
|
|
NM_006612.6(KIF1C):c.720+10C>G
|
|
|
|
NM_006612.6(KIF1C):c.720+11C>T
|
rs770907929
|
|
|
NM_006612.6(KIF1C):c.720+12C>G
|
|
|
|
NM_006612.6(KIF1C):c.720+13C>G
|
|
|
|
NM_006612.6(KIF1C):c.720+14C>A
|
|
|
|
NM_006612.6(KIF1C):c.720+14C>G
|
|
|
|
NM_006612.6(KIF1C):c.720+15C>T
|
|
|
|
NM_006612.6(KIF1C):c.720+16C>A
|
|
|
|
NM_006612.6(KIF1C):c.720+16C>G
|
|
|
|
NM_006612.6(KIF1C):c.720+16C>T
|
|
|
|
NM_006612.6(KIF1C):c.720+18C>A
|
rs201947256
|
|
|
NM_006612.6(KIF1C):c.720+18C>G
|
|
|
|
NM_006612.6(KIF1C):c.720+18_720+20del
|
rs10533622
|
|
|
NM_006612.6(KIF1C):c.720+19C>G
|
rs757513826
|
|
|
NM_006612.6(KIF1C):c.720+19_720+20del
|
rs10533622
|
|
|
NM_006612.6(KIF1C):c.720+20C>A
|
|
|
|
NM_006612.6(KIF1C):c.720+20C>G
|
rs201019441
|
|
|
NM_006612.6(KIF1C):c.720+20C>T
|
|
|
|
NM_006612.6(KIF1C):c.720+20del
|
rs10533622
|
|
|
NM_006612.6(KIF1C):c.720+20dup
|
rs10533622
|
|
|
NM_006612.6(KIF1C):c.720+9G>A
|
|
|
|
NM_006612.6(KIF1C):c.721-14dup
|
|
|
|
NM_006612.6(KIF1C):c.721-18T>C
|
|
|
|
NM_006612.6(KIF1C):c.721-4C>T
|
|
|
|
NM_006612.6(KIF1C):c.726_727insCC (p.Lys243fs)
|
rs2143317762
|
|
|
NM_006612.6(KIF1C):c.743A>G (p.Asp248Gly)
|
|
|
|
NM_006612.6(KIF1C):c.764C>A (p.Ala255Asp)
|
|
|
|
NM_006612.6(KIF1C):c.765del (p.Asp256fs)
|
rs2143317920
|
|
|
NM_006612.6(KIF1C):c.768C>T (p.Asp256=)
|
|
|
|
NM_006612.6(KIF1C):c.76T>C (p.Cys26Arg)
|
|
|
|
NM_006612.6(KIF1C):c.798+13C>T
|
|
|
|
NM_006612.6(KIF1C):c.798+5G>A
|
rs1974659801
|
|
|
NM_006612.6(KIF1C):c.799-19A>G
|
rs370317680
|
|
|
NM_006612.6(KIF1C):c.799-19A>T
|
rs370317680
|
|
|
NM_006612.6(KIF1C):c.803G>C (p.Gly268Ala)
|
|
|
|
NM_006612.6(KIF1C):c.822C>G (p.Ser274=)
|
rs1241963621
|
|
|
NM_006612.6(KIF1C):c.840A>G (p.Lys280=)
|
|
|
|
NM_006612.6(KIF1C):c.843G>T (p.Val281=)
|
|
|
|
NM_006612.6(KIF1C):c.850G>A (p.Ala284Thr)
|
|
|
|
NM_006612.6(KIF1C):c.852C>T (p.Ala284=)
|
|
|
|
NM_006612.6(KIF1C):c.864+17G>A
|
|
|
|
NM_006612.6(KIF1C):c.865-13T>G
|
|
|
|
NM_006612.6(KIF1C):c.865-4C>T
|
|
|
|
NM_006612.6(KIF1C):c.912G>A (p.Val304=)
|
|
|
|
NM_006612.6(KIF1C):c.940+7G>A
|
|
|
|
NM_006612.6(KIF1C):c.941-8A>G
|
|
|
|
NM_006612.6(KIF1C):c.953G>A (p.Arg318His)
|
|
|
|
NM_006612.6(KIF1C):c.966T>C (p.Ile322=)
|
|
|
|
NM_006612.6(KIF1C):c.990C>T (p.Ile330=)
|
|
|
|
NM_006612.6(KIF1C):c.992A>G (p.Asn331Ser)
|
|
|
|
NM_006702.4(PNPLA6):c.-298T>C
|
rs2022732008
|
|
|
NM_006702.4(PNPLA6):c.3916_3918delGAG
|
rs532776939
|
|
|
NM_006702.5(PNPLA6):c.11C>A (p.Pro4Gln)
|
rs1418357285
|
|
|
NM_007175.8(ERLIN2):c.187C>A (p.Gln63Lys)
|
rs1802811311
|
|
|
NM_007175.8(ERLIN2):c.188A>C (p.Gln63Pro)
|
rs2129653824
|
|
|
NM_007175.8(ERLIN2):c.356A>G (p.Lys119Arg)
|
rs1802974214
|
|
|
NM_007175.8(ERLIN2):c.374A>G (p.Asn125Ser)
|
rs2129680761
|
|
|
NM_007175.8(ERLIN2):c.386G>C (p.Ser129Thr)
|
|
|
|
NM_007175.8(ERLIN2):c.406G>A (p.Val136Ile)
|
rs1338086200
|
|
|
NM_007175.8(ERLIN2):c.430A>G (p.Ile144Val)
|
rs2129710278
|
|
|
NM_007175.8(ERLIN2):c.452C>T (p.Ala151Val)
|
rs1554517327
|
|
|
NM_007175.8(ERLIN2):c.47_48delinsAA (p.Cys16Ter)
|
|
|
|
NM_007175.8(ERLIN2):c.499-11TC[3]
|
rs2129711294
|
|
|
NM_007175.8(ERLIN2):c.499-1G>T
|
rs398123002
|
|
|
NM_007175.8(ERLIN2):c.502G>A (p.Val168Met)
|
rs1803173923
|
|
|
NM_007175.8(ERLIN2):c.538C>T (p.Arg180Cys)
|
|
|
|
NM_007175.8(ERLIN2):c.557_557+10delinsCCTGGCTGTGACCTGGGCTGTGA
|
rs1554517382
|
|
|
NM_007175.8(ERLIN2):c.660del (p.Val221fs)
|
|
|
|
NM_007175.8(ERLIN2):c.799A>G (p.Lys267Glu)
|
rs2129726150
|
|
|
NM_007175.8(ERLIN2):c.812_813insAC (p.Asn272fs)
|
rs587776893
|
|
|
NM_007175.8(ERLIN2):c.819G>A (p.Lys273=)
|
rs779335579
|
|
|
NM_007175.8(ERLIN2):c.869C>T (p.Ala290Val)
|
rs759417913
|
|
|
NM_007175.8(ERLIN2):c.877A>G (p.Ser293Gly)
|
rs2129728774
|
|
|
NM_007215.4(POLG2):c.274C>G (p.Leu92Val)
|
rs1555669595
|
|
|
NM_007347.5(AP4E1):c.104G>A (p.Arg35Lys)
|
rs1328098445
|
|
|
NM_007347.5(AP4E1):c.1316+44_1316+54del
|
rs144809125
|
|
|
NM_007347.5(AP4E1):c.1317-2A>C
|
rs1567230528
|
|
|
NM_007347.5(AP4E1):c.1359_1360insNN (p.Val454fs)
|
rs2140861877
|
|
|
NM_007347.5(AP4E1):c.1429+1G>T
|
|
|
|
NM_007347.5(AP4E1):c.150C>T (p.His50=)
|
rs2141121083
|
|
|
NM_007347.5(AP4E1):c.1558dup (p.Glu520fs)
|
|
|
|
NM_007347.5(AP4E1):c.1675A>C (p.Thr559Pro)
|
rs1176175925
|
|
|
NM_007347.5(AP4E1):c.1694C>T (p.Ala565Val)
|
rs142762839
|
|
|
NM_007347.5(AP4E1):c.2043T>C (p.Ser681=)
|
rs2140914739
|
|
|
NM_007347.5(AP4E1):c.2731A>G (p.Thr911Ala)
|
|
|
|
NM_007347.5(AP4E1):c.2901C>A (p.Phe967Leu)
|
rs2140935330
|
|
|
NM_007347.5(AP4E1):c.3096-57dup
|
rs3840015
|
|
|
NM_007347.5(AP4E1):c.326A>G (p.Asn109Ser)
|
rs2063619601
|
|
|
NM_007347.5(AP4E1):c.3313C>T (p.Arg1105Ter)
|
rs1313275799
|
|
|
NM_007347.5(AP4E1):c.382C>T (p.His128Tyr)
|
rs2063738778
|
|
|
NM_007347.5(AP4E1):c.541A>C (p.Lys181Gln)
|
rs1404968090
|
|
|
NM_007347.5(AP4E1):c.542+5_542+8del
|
rs2141147450
|
|
|
NM_007347.5(AP4E1):c.773A>G (p.Lys258Arg)
|
|
|
|
NM_007347.5(AP4E1):c.942_943+3delinsCC
|
rs2141164878
|
|
|
NM_012073.4(CCT5):c.-112G>A
|
rs745933943
|
|
|
NM_012073.5(CCT5):c.*1174C>A
|
rs1746211625
|
|
|
NM_012073.5(CCT5):c.*1427G>A
|
rs191751648
|
|
|
NM_012073.5(CCT5):c.*1483G>A
|
rs1746230429
|
|
|
NM_012073.5(CCT5):c.*161C>T
|
rs1746148378
|
|
|
NM_012073.5(CCT5):c.*386T>C
|
rs533551114
|
|
|
NM_012073.5(CCT5):c.*513G>C
|
rs72738997
|
|
|
NM_012073.5(CCT5):c.*749A>G
|
rs1746183602
|
|
|
NM_012073.5(CCT5):c.*797G>A
|
rs1746187490
|
|
|
NM_012073.5(CCT5):c.*889C>A
|
rs1746194445
|
|
|
NM_012073.5(CCT5):c.1006G>A (p.Ala336Thr)
|
|
|
|
NM_012073.5(CCT5):c.1009A>G (p.Thr337Ala)
|
|
|
|
NM_012073.5(CCT5):c.1024G>A (p.Val342Ile)
|
|
|
|
NM_012073.5(CCT5):c.1041G>A (p.Glu347=)
|
rs2126514873
|
|
|
NM_012073.5(CCT5):c.1044C>T (p.Leu348=)
|
rs1554011541
|
|
|
NM_012073.5(CCT5):c.106-12T>G
|
|
|
|
NM_012073.5(CCT5):c.1065T>C (p.Phe355=)
|
|
|
|
NM_012073.5(CCT5):c.1078C>A (p.Gln360Lys)
|
rs368250896
|
|
|
NM_012073.5(CCT5):c.1120A>G (p.Ile374Val)
|
rs1745970022
|
|
|
NM_012073.5(CCT5):c.1153A>G (p.Ile385Val)
|
|
|
|
NM_012073.5(CCT5):c.1179+12A>G
|
|
|
|
NM_012073.5(CCT5):c.1183A>G (p.Ile395Val)
|
rs781378409
|
|
|
NM_012073.5(CCT5):c.1199G>A (p.Arg400Gln)
|
|
|
|
NM_012073.5(CCT5):c.1216T>G (p.Leu406Val)
|
rs746067421
|
|
|
NM_012073.5(CCT5):c.1217T>C (p.Leu406Ser)
|
|
|
|
NM_012073.5(CCT5):c.1236C>T (p.Leu412=)
|
|
|
|
NM_012073.5(CCT5):c.1248T>C (p.Asn416=)
|
|
|
|
NM_012073.5(CCT5):c.1250G>A (p.Arg417His)
|
rs761273276
|
|
|
NM_012073.5(CCT5):c.1289C>G (p.Ala430Gly)
|
|
|
|
NM_012073.5(CCT5):c.1290C>T (p.Ala430=)
|
|
|
|
NM_012073.5(CCT5):c.1291C>T (p.Leu431=)
|
|
|
|
NM_012073.5(CCT5):c.1317+10_1317+11delinsAC
|
|
|
|
NM_012073.5(CCT5):c.1317+14G>A
|
|
|
|
NM_012073.5(CCT5):c.1317+3A>G
|
|
|
|
NM_012073.5(CCT5):c.1318-8C>A
|
|
|
|
NM_012073.5(CCT5):c.1318-8C>T
|
rs927002228
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NM_012073.5(CCT5):c.1322C>A (p.Pro441His)
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NM_012073.5(CCT5):c.1336T>C (p.Tyr446His)
|
rs1554011822
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NM_012073.5(CCT5):c.1356C>T (p.Ala452=)
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NM_012073.5(CCT5):c.1384C>T (p.Leu462Phe)
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NM_012073.5(CCT5):c.139A>G (p.Thr47Ala)
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NM_012073.5(CCT5):c.13G>A (p.Gly5Arg)
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NM_012073.5(CCT5):c.1402A>G (p.Met468Val)
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NM_012073.5(CCT5):c.1429G>C (p.Val477Leu)
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NM_012073.5(CCT5):c.142A>G (p.Met48Val)
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NM_012073.5(CCT5):c.1433G>A (p.Arg478Gln)
|
rs1746055933
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NM_012073.5(CCT5):c.1449G>A (p.Lys483=)
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NM_012073.5(CCT5):c.1474G>A (p.Asp492Asn)
|
rs749250007
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NM_012073.5(CCT5):c.1474G>C (p.Asp492His)
|
rs749250007
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NM_012073.5(CCT5):c.1498+15C>T
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NM_012073.5(CCT5):c.1498+16G>A
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NM_012073.5(CCT5):c.1498+18C>T
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NM_012073.5(CCT5):c.1498+31G>A
|
rs58620077
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NM_012073.5(CCT5):c.1498+3G>A
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NM_012073.5(CCT5):c.1498+9C>T
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NM_012073.5(CCT5):c.1499-10T>G
|
rs903114794
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NM_012073.5(CCT5):c.1545A>G (p.Gln515=)
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NM_012073.5(CCT5):c.1552T>C (p.Ser518Pro)
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NM_012073.5(CCT5):c.1562C>T (p.Thr521Ile)
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NM_012073.5(CCT5):c.1564C>G (p.Gln522Glu)
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NM_012073.5(CCT5):c.1571T>C (p.Val524Ala)
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NM_012073.5(CCT5):c.1623A>G (p.Glu541=)
|
rs758936847
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NM_012073.5(CCT5):c.1623dup (p.Ter542MetextTer?)
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NM_012073.5(CCT5):c.1624T>G (p.Ter542Gly)
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NM_012073.5(CCT5):c.166+14A>G
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NM_012073.5(CCT5):c.166+18C>T
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NM_012073.5(CCT5):c.166+19G>A
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NM_012073.5(CCT5):c.166+7G>C
|
rs1561044915
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NM_012073.5(CCT5):c.167-13C>G
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NM_012073.5(CCT5):c.167-13C>T
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NM_012073.5(CCT5):c.167-16A>G
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NM_012073.5(CCT5):c.18C>T (p.Thr6=)
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NM_012073.5(CCT5):c.1A>G (p.Met1Val)
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NM_012073.5(CCT5):c.1A>T (p.Met1Leu)
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rs765917279
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NM_012073.5(CCT5):c.207T>C (p.Thr69=)
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rs1579447878
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NM_012073.5(CCT5):c.243G>T (p.Met81Ile)
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NM_012073.5(CCT5):c.267G>C (p.Lys89Asn)
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rs1554010636
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NM_012073.5(CCT5):c.271A>G (p.Met91Val)
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rs1745593343
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NM_012073.5(CCT5):c.288G>A (p.Lys96=)
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NM_012073.5(CCT5):c.300T>C (p.Asp100=)
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NM_012073.5(CCT5):c.318C>T (p.Thr106=)
|
rs2126500116
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NM_012073.5(CCT5):c.331+13A>G
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NM_012073.5(CCT5):c.332-14T>C
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NM_012073.5(CCT5):c.332-19_332-16del
|
rs376551309
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NM_012073.5(CCT5):c.332-20G>C
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NM_012073.5(CCT5):c.334C>T (p.Leu112=)
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NM_012073.5(CCT5):c.33A>G (p.Glu11=)
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NM_012073.5(CCT5):c.360G>A (p.Ala120=)
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NM_012073.5(CCT5):c.382A>G (p.Ile128Val)
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NM_012073.5(CCT5):c.393C>G (p.Ile131Met)
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NM_012073.5(CCT5):c.402C>T (p.Ala134=)
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NM_012073.5(CCT5):c.40C>T (p.Arg14Cys)
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NM_012073.5(CCT5):c.426T>A (p.Arg142=)
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NM_012073.5(CCT5):c.426_427inv (p.Val143Ile)
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NM_012073.5(CCT5):c.433A>G (p.Ile145Val)
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NM_012073.5(CCT5):c.441C>G (p.His147Gln)
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NM_012073.5(CCT5):c.469G>T (p.Val157Phe)
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NM_012073.5(CCT5):c.472G>A (p.Asp158Asn)
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NM_012073.5(CCT5):c.474C>T (p.Asp158=)
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NM_012073.5(CCT5):c.476T>A (p.Ile159Lys)
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NM_012073.5(CCT5):c.480G>C (p.Lys160Asn)
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NM_012073.5(CCT5):c.48C>T (p.Phe16=)
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NM_012073.5(CCT5):c.490C>T (p.Pro164Ser)
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NM_012073.5(CCT5):c.516G>A (p.Thr172=)
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NM_012073.5(CCT5):c.544C>T (p.His182Tyr)
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NM_012073.5(CCT5):c.568G>A (p.Val190Met)
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NM_012073.5(CCT5):c.570G>C (p.Val190=)
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NM_012073.5(CCT5):c.576C>A (p.Ala192=)
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NM_012073.5(CCT5):c.57C>G (p.Ile19Met)
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NM_012073.5(CCT5):c.602G>A (p.Arg201Gln)
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rs1579451817
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NM_012073.5(CCT5):c.609C>T (p.Asp203=)
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NM_012073.5(CCT5):c.664A>T (p.Thr222Ser)
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rs1745778826
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NM_012073.5(CCT5):c.670C>G (p.Leu224Val)
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NM_012073.5(CCT5):c.694A>G (p.Lys232Glu)
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NM_012073.5(CCT5):c.69C>T (p.Asp23=)
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NM_012073.5(CCT5):c.6G>A (p.Ala2=)
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NM_012073.5(CCT5):c.700T>A (p.Phe234Ile)
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NM_012073.5(CCT5):c.703A>G (p.Ser235Gly)
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NM_012073.5(CCT5):c.723+10T>C
|
rs754237380
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NM_012073.5(CCT5):c.724-9C>T
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NM_012073.5(CCT5):c.737C>T (p.Ala246Val)
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NM_012073.5(CCT5):c.738G>C (p.Ala246=)
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rs11557649
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NM_012073.5(CCT5):c.744T>G (p.Ile248Met)
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NM_012073.5(CCT5):c.749T>G (p.Ile250Ser)
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NM_012073.5(CCT5):c.761C>T (p.Pro254Leu)
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NM_012073.5(CCT5):c.769C>A (p.Pro257Thr)
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NM_012073.5(CCT5):c.814G>A (p.Glu272Lys)
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NM_012073.5(CCT5):c.81T>C (p.Arg27=)
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NM_012073.5(CCT5):c.823A>G (p.Lys275Glu)
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NM_012073.5(CCT5):c.85A>C (p.Met29Leu)
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rs773861292
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NM_012073.5(CCT5):c.873+11C>G
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NM_012073.5(CCT5):c.873+12C>T
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NM_012073.5(CCT5):c.873A>C (p.Gln291His)
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NM_012073.5(CCT5):c.874-9T>C
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NM_012073.5(CCT5):c.898G>A (p.Ala300Thr)
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NM_012073.5(CCT5):c.918T>C (p.Phe306=)
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rs1745924206
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NM_012073.5(CCT5):c.924T>C (p.Asp308=)
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NM_012073.5(CCT5):c.936_937del (p.Leu313fs)
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NM_012073.5(CCT5):c.942T>A (p.Leu314=)
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NM_012073.5(CCT5):c.963G>A (p.Ala321=)
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NM_012073.5(CCT5):c.968G>A (p.Arg323His)
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rs1745927457
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NM_012073.5(CCT5):c.993+10T>A
|
rs2126513359
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NM_012073.5(CCT5):c.993+15G>A
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NM_012073.5(CCT5):c.994-11A>G
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NM_012073.5(CCT5):c.994-13C>T
|
rs1745959498
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NM_012073.5(CCT5):c.994-17C>G
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NM_012073.5(CCT5):c.994-19C>T
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NM_012073.5(CCT5):c.994-4T>G
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NM_012073.5(CCT5):c.994-5A>C
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NM_012073.5(CCT5):c.99C>G (p.Ala33=)
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NM_013254.4(TBK1):c.290T>A (p.Val97Asp)
|
rs1565813507
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NM_014265.6(ADAM28):c.1709C>G (p.Ser570Trp)
|
rs201643797
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NM_014363.5:c.[1640C>T;1634G>T]
|
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NM_014363.6(SACS):c.1066A>G (p.Ile356Val)
|
rs148286091
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NM_014363.6(SACS):c.11326A>G (p.Ile3776Val)
|
rs770269690
|
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NM_014363.6(SACS):c.11539ATT[1] (p.Ile3848del)
|
rs2137565671
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NM_014363.6(SACS):c.12829C>T (p.Pro4277Ser)
|
rs370655945
|
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NM_014363.6(SACS):c.13165T>G (p.Ser4389Ala)
|
rs2137551379
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NM_014363.6(SACS):c.1672C>T (p.Gln558Ter)
|
rs923921184
|
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NM_014363.6(SACS):c.2182C>T (p.Arg728Ter)
|
rs752059006
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NM_014363.6(SACS):c.2225G>A (p.Arg742Gln)
|
rs2137645971
|
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NM_014363.6(SACS):c.237dup (p.Ser80fs)
|
rs770311689
|
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NM_014363.6(SACS):c.2814T>C (p.Ile938=)
|
rs909826115
|
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NM_014363.6(SACS):c.2926C>A (p.Arg976Ser)
|
rs139993038
|
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NM_014363.6(SACS):c.3253C>T (p.His1085Tyr)
|
rs1869118837
|
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NM_014363.6(SACS):c.3427C>A (p.Gln1143Lys)
|
rs144267558
|
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NM_014363.6(SACS):c.3450A>G (p.Thr1150=)
|
rs2137635273
|
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NM_014363.6(SACS):c.4117G>T (p.Ala1373Ser)
|
rs61326562
|
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NM_014363.6(SACS):c.4118C>A (p.Ala1373Glu)
|
rs61548169
|
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NM_014363.6(SACS):c.4756_4760del (p.Asn1586fs)
|
rs765361868
|
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NM_014363.6(SACS):c.5149_5151del (p.Lys1717del)
|
rs754439135
|
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NM_014363.6(SACS):c.5151dup (p.Ser1718fs)
|
rs754439135
|
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NM_014363.6(SACS):c.5385G>A (p.Met1795Ile)
|
rs2137619273
|
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NM_014363.6(SACS):c.5450C>T (p.Thr1817Met)
|
rs898102157
|
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NM_014363.6(SACS):c.6008A>T (p.Asp2003Val)
|
rs537408260
|
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NM_014363.6(SACS):c.605-8C>T
|
rs2137729530
|
|
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NM_014363.6(SACS):c.6377T>C (p.Ile2126Thr)
|
rs373982540
|
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NM_014363.6(SACS):c.6663del (p.Lys2221fs)
|
rs1555251699
|
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NM_014363.6(SACS):c.6978C>G (p.Ala2326=)
|
rs2137604768
|
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NM_014363.6(SACS):c.7546A>G (p.Thr2516Ala)
|
rs2137599256
|
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NM_014363.6(SACS):c.7724T>G (p.Ile2575Arg)
|
rs2137597923
|
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NM_014363.6(SACS):c.8022T>C (p.Phe2674=)
|
rs34928783
|
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NM_014363.6(SACS):c.8584A>T (p.Lys2862Ter)
|
rs2137590717
|
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NM_014363.6(SACS):c.8793dup (p.Arg2932fs)
|
rs767871841
|
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NM_014363.6(SACS):c.8794C>T (p.Arg2932Trp)
|
rs370913893
|
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|
NM_014363.6(SACS):c.8873A>G (p.Lys2958Arg)
|
rs11839380
|
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NM_014363.6(SACS):c.9081dup (p.Asp3028Ter)
|
rs2137586930
|
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|
NM_014363.6(SACS):c.9119dup (p.Asn3040fs)
|
rs1435126137
|
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|
NM_014844.4(TECPR2):c.222delG
|
rs1567327482
|
|
|
NM_014844.5(TECPR2):c.*1716G>C
|
rs56232046
|
|
|
NM_014844.5(TECPR2):c.*7C>G
|
rs778208284
|
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|
NM_014844.5(TECPR2):c.1005_1084+133del
|
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|
NM_014844.5(TECPR2):c.1026G>A (p.Leu342=)
|
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|
NM_014844.5(TECPR2):c.1028_1032del (p.Lys343fs)
|
rs1359602238
|
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|
NM_014844.5(TECPR2):c.102C>T (p.Ile34=)
|
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|
NM_014844.5(TECPR2):c.1038G>A (p.Arg346=)
|
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|
NM_014844.5(TECPR2):c.103G>A (p.Val35Met)
|
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NM_014844.5(TECPR2):c.1062G>A (p.Arg354=)
|
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|
NM_014844.5(TECPR2):c.1065T>G (p.Pro355=)
|
rs2139721499
|
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|
NM_014844.5(TECPR2):c.1071A>T (p.Gly357=)
|
|
|
|
NM_014844.5(TECPR2):c.1083del (p.Thr361_Val362insTer)
|
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|
NM_014844.5(TECPR2):c.1084+11A>G
|
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|
NM_014844.5(TECPR2):c.1084+13T>C
|
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NM_014844.5(TECPR2):c.1084+15T>G
|
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NM_014844.5(TECPR2):c.1084+16A>C
|
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|
NM_014844.5(TECPR2):c.1084+20T>G
|
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|
NM_014844.5(TECPR2):c.1084+2T>C
|
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|
NM_014844.5(TECPR2):c.1085-12C>T
|
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|
NM_014844.5(TECPR2):c.1085-14C>T
|
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|
NM_014844.5(TECPR2):c.1085-4T>A
|
rs1363586320
|
|
|
NM_014844.5(TECPR2):c.1085-8T>C
|
|
|
|
NM_014844.5(TECPR2):c.1085-9C>A
|
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|
NM_014844.5(TECPR2):c.1110A>G (p.Gly370=)
|
rs2139726610
|
|
|
NM_014844.5(TECPR2):c.1117_1126dup (p.His376fs)
|
|
|
|
NM_014844.5(TECPR2):c.1119G>A (p.Glu373=)
|
|
|
|
NM_014844.5(TECPR2):c.1131G>A (p.Val377=)
|
rs1221063069
|
|
|
NM_014844.5(TECPR2):c.1134G>A (p.Gln378=)
|
|
|
|
NM_014844.5(TECPR2):c.1137A>G (p.Gln379=)
|
|
|
|
NM_014844.5(TECPR2):c.1152del (p.Ala386fs)
|
rs2139726694
|
|
|
NM_014844.5(TECPR2):c.1155G>A (p.Gly385=)
|
|
|
|
NM_014844.5(TECPR2):c.1155G>C (p.Gly385=)
|
rs1381068013
|
|
|
NM_014844.5(TECPR2):c.1156del (p.Ala386fs)
|
rs2139726701
|
|
|
NM_014844.5(TECPR2):c.1160_1161del (p.Thr387fs)
|
rs1213755599
|
|
|
NM_014844.5(TECPR2):c.1167T>A (p.Ser389=)
|
|
|
|
NM_014844.5(TECPR2):c.1176G>T (p.Arg392Ser)
|
rs771574785
|
|
|
NM_014844.5(TECPR2):c.1179C>G (p.Leu393=)
|
rs2139726768
|
|
|
NM_014844.5(TECPR2):c.117G>C (p.Thr39=)
|
|
|
|
NM_014844.5(TECPR2):c.117G>T (p.Thr39=)
|
|
|
|
NM_014844.5(TECPR2):c.1182A>G (p.Arg394=)
|
rs2139726775
|
|
|
NM_014844.5(TECPR2):c.1191del (p.Met398fs)
|
|
|
|
NM_014844.5(TECPR2):c.1197C>T (p.Ala399=)
|
|
|
|
NM_014844.5(TECPR2):c.1200C>T (p.Ser400=)
|
|
|
|
NM_014844.5(TECPR2):c.120C>T (p.Ala40=)
|
rs777258630
|
|
|
NM_014844.5(TECPR2):c.1216C>T (p.Pro406Ser)
|
|
|
|
NM_014844.5(TECPR2):c.1218A>C (p.Pro406=)
|
|
|
|
NM_014844.5(TECPR2):c.1227G>A (p.Arg409=)
|
rs2139726887
|
|
|
NM_014844.5(TECPR2):c.1236G>T (p.Ser412=)
|
|
|
|
NM_014844.5(TECPR2):c.1239C>G (p.Leu413=)
|
|
|
|
NM_014844.5(TECPR2):c.123C>G (p.Leu41=)
|
rs761580335
|
|
|
NM_014844.5(TECPR2):c.123C>T (p.Leu41=)
|
rs761580335
|
|
|
NM_014844.5(TECPR2):c.1245C>T (p.Ser415=)
|
|
|
|
NM_014844.5(TECPR2):c.1251C>T (p.Asp417=)
|
rs1889505614
|
|
|
NM_014844.5(TECPR2):c.1252A>G (p.Ser418Gly)
|
|
|
|
NM_014844.5(TECPR2):c.1257C>T (p.Gly419=)
|
rs2139726956
|
|
|
NM_014844.5(TECPR2):c.1275T>G (p.Pro425=)
|
|
|
|
NM_014844.5(TECPR2):c.1275del (p.Leu427fs)
|
|
|
|
NM_014844.5(TECPR2):c.1301G>A (p.Gly434Asp)
|
|
|
|
NM_014844.5(TECPR2):c.1305G>A (p.Lys435=)
|
|
|
|
NM_014844.5(TECPR2):c.1314G>C (p.Gln438His)
|
rs1889509080
|
|
|
NM_014844.5(TECPR2):c.1317C>T (p.Pro439=)
|
|
|
|
NM_014844.5(TECPR2):c.1328_1329del (p.Arg443fs)
|
|
|
|
NM_014844.5(TECPR2):c.132C>T (p.Asn44=)
|
rs146316866
|
|
|
NM_014844.5(TECPR2):c.1338C>G (p.Ala446=)
|
|
|
|
NM_014844.5(TECPR2):c.1342A>G (p.Ser448Gly)
|
rs1889511402
|
|
|
NM_014844.5(TECPR2):c.1346C>T (p.Ser449Leu)
|
|
|
|
NM_014844.5(TECPR2):c.1347A>C (p.Ser449=)
|
|
|
|
NM_014844.5(TECPR2):c.1350G>A (p.Glu450=)
|
rs2139727195
|
|
|
NM_014844.5(TECPR2):c.1359C>T (p.Asp453=)
|
|
|
|
NM_014844.5(TECPR2):c.1360C>T (p.Gln454Ter)
|
|
|
|
NM_014844.5(TECPR2):c.1362G>A (p.Gln454=)
|
|
|
|
NM_014844.5(TECPR2):c.1368T>C (p.Leu456=)
|
rs780996550
|
|
|
NM_014844.5(TECPR2):c.1371C>A (p.Val457=)
|
|
|
|
NM_014844.5(TECPR2):c.1371C>T (p.Val457=)
|
rs1276489162
|
|
|
NM_014844.5(TECPR2):c.1380T>A (p.Pro460=)
|
|
|
|
NM_014844.5(TECPR2):c.1380T>C (p.Pro460=)
|
rs2139727257
|
|
|
NM_014844.5(TECPR2):c.1386A>G (p.Lys462=)
|
rs2139727263
|
|
|
NM_014844.5(TECPR2):c.1397AGA[4] (p.Lys470_Lys471del)
|
rs572609303
|
|
|
NM_014844.5(TECPR2):c.1397AGA[5] (p.Lys471del)
|
rs572609303
|
|
|
NM_014844.5(TECPR2):c.1397AGA[7] (p.Lys471dup)
|
rs572609303
|
|
|
NM_014844.5(TECPR2):c.1404G>A (p.Lys468=)
|
rs1889513531
|
|
|
NM_014844.5(TECPR2):c.1415C>T (p.Thr472Ile)
|
rs370462085
|
|
|
NM_014844.5(TECPR2):c.1417+7T>A
|
rs1889514290
|
|
|
NM_014844.5(TECPR2):c.1417+8C>G
|
|
|
|
NM_014844.5(TECPR2):c.1417+8C>T
|
rs2139727336
|
|
|
NM_014844.5(TECPR2):c.1418-13T>C
|
|
|
|
NM_014844.5(TECPR2):c.1418-14T>C
|
|
|
|
NM_014844.5(TECPR2):c.1418-15C>A
|
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|
|
NM_014844.5(TECPR2):c.1418-2A>G
|
|
|
|
NM_014844.5(TECPR2):c.141C>T (p.Tyr47=)
|
rs992323339
|
|
|
NM_014844.5(TECPR2):c.1429A>C (p.Arg477=)
|
|
|
|
NM_014844.5(TECPR2):c.1431G>A (p.Arg477=)
|
|
|
|
NM_014844.5(TECPR2):c.1443C>T (p.His481=)
|
rs2139730324
|
|
|
NM_014844.5(TECPR2):c.1449C>T (p.Ser483=)
|
|
|
|
NM_014844.5(TECPR2):c.1452G>T (p.Leu484=)
|
rs1567339498
|
|
|
NM_014844.5(TECPR2):c.1470_1471insT (p.Glu491Ter)
|
|
|
|
NM_014844.5(TECPR2):c.1473A>G (p.Glu491=)
|
rs2139730366
|
|
|
NM_014844.5(TECPR2):c.147G>A (p.Ala49=)
|
rs1474621936
|
|
|
NM_014844.5(TECPR2):c.147G>T (p.Ala49=)
|
|
|
|
NM_014844.5(TECPR2):c.1483del (p.Asp495fs)
|
|
|
|
NM_014844.5(TECPR2):c.1492C>A (p.Gln498Lys)
|
rs1018872661
|
|
|
NM_014844.5(TECPR2):c.1509C>T (p.Asp503=)
|
|
|
|
NM_014844.5(TECPR2):c.1515G>A (p.Leu505=)
|
rs2139730436
|
|
|
NM_014844.5(TECPR2):c.1529_1557dup (p.Ser520delinsValSerTrpAlaValAlaTrpIleSerTer)
|
|
|
|
NM_014844.5(TECPR2):c.1534C>T (p.Leu512=)
|
rs2139730476
|
|
|
NM_014844.5(TECPR2):c.1534del (p.Leu512fs)
|
|
|
|
NM_014844.5(TECPR2):c.1545C>T (p.Ser515=)
|
rs1307288357
|
|
|
NM_014844.5(TECPR2):c.1560T>C (p.Ser520=)
|
rs1194487062
|
|
|
NM_014844.5(TECPR2):c.1563A>G (p.Ala521=)
|
rs2139730512
|
|
|
NM_014844.5(TECPR2):c.1568del (p.Ser523fs)
|
rs1555451465
|
|
|
NM_014844.5(TECPR2):c.1586G>C (p.Ser529Thr)
|
rs2139730562
|
|
|
NM_014844.5(TECPR2):c.158G>A (p.Ser53Asn)
|
rs750590086
|
|
|
NM_014844.5(TECPR2):c.1593T>C (p.Asn531=)
|
|
|
|
NM_014844.5(TECPR2):c.15A>G (p.Ser5=)
|
|
|
|
NM_014844.5(TECPR2):c.1606G>A (p.Gly536Ser)
|
rs186595127
|
|
|
NM_014844.5(TECPR2):c.1606G>C (p.Gly536Arg)
|
rs186595127
|
|
|
NM_014844.5(TECPR2):c.1606G>T (p.Gly536Cys)
|
|
|
|
NM_014844.5(TECPR2):c.1608T>C (p.Gly536=)
|
|
|
|
NM_014844.5(TECPR2):c.1610T>C (p.Val537Ala)
|
|
|
|
NM_014844.5(TECPR2):c.1617G>A (p.Gln539=)
|
|
|
|
NM_014844.5(TECPR2):c.1623T>C (p.Asn541=)
|
rs2139730648
|
|
|
NM_014844.5(TECPR2):c.1626T>G (p.Thr542=)
|
|
|
|
NM_014844.5(TECPR2):c.1629C>T (p.Asp543=)
|
rs2139730664
|
|
|
NM_014844.5(TECPR2):c.1647C>G (p.Val549=)
|
rs2139730715
|
|
|
NM_014844.5(TECPR2):c.1651G>A (p.Glu551Lys)
|
|
|
|
NM_014844.5(TECPR2):c.1653G>A (p.Glu551=)
|
|
|
|
NM_014844.5(TECPR2):c.1666A>G (p.Met556Val)
|
rs201791953
|
|
|
NM_014844.5(TECPR2):c.1695C>T (p.Asp565=)
|
rs2139730789
|
|
|
NM_014844.5(TECPR2):c.1715A>G (p.His572Arg)
|
|
|
|
NM_014844.5(TECPR2):c.1715A>T (p.His572Leu)
|
|
|
|
NM_014844.5(TECPR2):c.171C>A (p.Leu57=)
|
|
|
|
NM_014844.5(TECPR2):c.171C>T (p.Leu57=)
|
|
|
|
NM_014844.5(TECPR2):c.1734G>C (p.Gly578=)
|
rs2139730864
|
|
|
NM_014844.5(TECPR2):c.1735C>A (p.Arg579=)
|
rs368473676
|
|
|
NM_014844.5(TECPR2):c.173A>G (p.Tyr58Cys)
|
|
|
|
NM_014844.5(TECPR2):c.1743G>A (p.Leu581=)
|
|
|
|
NM_014844.5(TECPR2):c.1743G>T (p.Leu581=)
|
|
|
|
NM_014844.5(TECPR2):c.1751del (p.Gly584fs)
|
rs1345546964
|
|
|
NM_014844.5(TECPR2):c.1755G>A (p.Ala585=)
|
rs1889603103
|
|
|
NM_014844.5(TECPR2):c.1755G>C (p.Ala585=)
|
rs1889603103
|
|
|
NM_014844.5(TECPR2):c.1758G>A (p.Arg586=)
|
|
|
|
NM_014844.5(TECPR2):c.1761A>G (p.Glu587=)
|
|
|
|
NM_014844.5(TECPR2):c.1764T>C (p.Asp588=)
|
rs2139730932
|
|
|
NM_014844.5(TECPR2):c.1779del (p.Asp593fs)
|
|
|
|
NM_014844.5(TECPR2):c.177G>C (p.Leu59=)
|
|
|
|
NM_014844.5(TECPR2):c.1782C>T (p.Val594=)
|
rs2139730956
|
|
|
NM_014844.5(TECPR2):c.1785G>A (p.Thr595=)
|
rs1367573550
|
|
|
NM_014844.5(TECPR2):c.1812A>C (p.Ala604=)
|
|
|
|
NM_014844.5(TECPR2):c.1818T>C (p.Asp606=)
|
rs2139731044
|
|
|
NM_014844.5(TECPR2):c.1821A>G (p.Gly607=)
|
rs2139731047
|
|
|
NM_014844.5(TECPR2):c.1830C>T (p.Ser610=)
|
rs771394315
|
|
|
NM_014844.5(TECPR2):c.1834_1835del (p.Gln612fs)
|
rs2139731066
|
|
|
NM_014844.5(TECPR2):c.183C>T (p.Cys61=)
|
|
|
|
NM_014844.5(TECPR2):c.1855del (p.Asp619fs)
|
|
|
|
NM_014844.5(TECPR2):c.1860C>T (p.Ser620=)
|
|
|
|
NM_014844.5(TECPR2):c.1869G>C (p.Gly623=)
|
rs45605932
|
|
|
NM_014844.5(TECPR2):c.1871C>T (p.Ala624Val)
|
|
|
|
NM_014844.5(TECPR2):c.1872G>A (p.Ala624=)
|
rs145129878
|
|
|
NM_014844.5(TECPR2):c.1872G>T (p.Ala624=)
|
rs145129878
|
|
|
NM_014844.5(TECPR2):c.1878T>C (p.Asp626=)
|
rs2139731170
|
|
|
NM_014844.5(TECPR2):c.1884A>G (p.Glu628=)
|
rs2139731177
|
|
|
NM_014844.5(TECPR2):c.1887C>T (p.Asp629=)
|
rs2139731186
|
|
|
NM_014844.5(TECPR2):c.1897A>G (p.Ile633Val)
|
|
|
|
NM_014844.5(TECPR2):c.190del (p.Leu64fs)
|
|
|
|
NM_014844.5(TECPR2):c.1913del (p.Thr638fs)
|
|
|
|
NM_014844.5(TECPR2):c.1914T>C (p.Thr638=)
|
rs747361542
|
|
|
NM_014844.5(TECPR2):c.1923_1924del (p.Glu641fs)
|
|
|
|
NM_014844.5(TECPR2):c.1923_1926delinsT (p.Glu641_Val642delinsAsp)
|
|
|
|
NM_014844.5(TECPR2):c.1925T>A (p.Val642Asp)
|
rs746442659
|
|
|
NM_014844.5(TECPR2):c.1928C>T (p.Pro643Leu)
|
rs1307864537
|
|
|
NM_014844.5(TECPR2):c.1933C>T (p.Leu645=)
|
rs2139731305
|
|
|
NM_014844.5(TECPR2):c.1935G>A (p.Leu645=)
|
|
|
|
NM_014844.5(TECPR2):c.1938C>T (p.Asn646=)
|
rs775019396
|
|
|
NM_014844.5(TECPR2):c.1944_1947del (p.Thr649fs)
|
rs1595123894
|
|
|
NM_014844.5(TECPR2):c.1945A>G (p.Thr649Ala)
|
|
|
|
NM_014844.5(TECPR2):c.1965C>T (p.Ser655=)
|
rs2139731355
|
|
|
NM_014844.5(TECPR2):c.1974A>G (p.Pro658=)
|
rs1889612414
|
|
|
NM_014844.5(TECPR2):c.1978G>A (p.Ala660Thr)
|
rs1567340028
|
|
|
NM_014844.5(TECPR2):c.1992G>A (p.Leu664=)
|
rs377365529
|
|
|
NM_014844.5(TECPR2):c.1994del (p.Pro665fs)
|
|
|
|
NM_014844.5(TECPR2):c.2007T>C (p.Ala669=)
|
rs1889613952
|
|
|
NM_014844.5(TECPR2):c.2007TGA[1] (p.Asp670del)
|
rs1340395562
|
|
|
NM_014844.5(TECPR2):c.2011_2015del (p.Glu671fs)
|
rs2139731468
|
|
|
NM_014844.5(TECPR2):c.2022C>G (p.Pro674=)
|
rs770334939
|
|
|
NM_014844.5(TECPR2):c.2025G>C (p.Val675=)
|
|
|
|
NM_014844.5(TECPR2):c.2031C>A (p.Pro677=)
|
|
|
|
NM_014844.5(TECPR2):c.2034C>T (p.Ser678=)
|
|
|
|
NM_014844.5(TECPR2):c.2040G>A (p.Glu680=)
|
rs768087934
|
|
|
NM_014844.5(TECPR2):c.2043G>A (p.Gln681=)
|
|
|
|
NM_014844.5(TECPR2):c.2076C>T (p.His692=)
|
|
|
|
NM_014844.5(TECPR2):c.207G>A (p.Lys69=)
|
rs1887655277
|
|
|
NM_014844.5(TECPR2):c.2093G>A (p.Trp698Ter)
|
rs2139731631
|
|
|
NM_014844.5(TECPR2):c.2100T>C (p.Ala700=)
|
rs757538490
|
|
|
NM_014844.5(TECPR2):c.2101G>C (p.Val701Leu)
|
|
|
|
NM_014844.5(TECPR2):c.2124G>A (p.Gln708=)
|
|
|
|
NM_014844.5(TECPR2):c.2124G>C (p.Gln708His)
|
rs896270875
|
|
|
NM_014844.5(TECPR2):c.2127A>G (p.Lys709=)
|
|
|
|
NM_014844.5(TECPR2):c.2128_2131del (p.Glu710fs)
|
rs1889618137
|
|
|
NM_014844.5(TECPR2):c.2136C>A (p.Pro712=)
|
|
|
|
NM_014844.5(TECPR2):c.2136C>T (p.Pro712=)
|
|
|
|
NM_014844.5(TECPR2):c.2147G>A (p.Arg716His)
|
|
|
|
NM_014844.5(TECPR2):c.2151C>A (p.Val717=)
|
|
|
|
NM_014844.5(TECPR2):c.2152T>C (p.Leu718=)
|
|
|
|
NM_014844.5(TECPR2):c.2172G>A (p.Gln724=)
|
rs1358533495
|
|
|
NM_014844.5(TECPR2):c.2175G>A (p.Leu725=)
|
rs760581263
|
|
|
NM_014844.5(TECPR2):c.2175G>T (p.Leu725=)
|
|
|
|
NM_014844.5(TECPR2):c.218_219+15del
|
rs1567314662
|
|
|
NM_014844.5(TECPR2):c.219+10G>A
|
|
|
|
NM_014844.5(TECPR2):c.219+8T>C
|
|
|
|
NM_014844.5(TECPR2):c.220-10G>C
|
|
|
|
NM_014844.5(TECPR2):c.220-11C>T
|
|
|
|
NM_014844.5(TECPR2):c.220-15T>A
|
|
|
|
NM_014844.5(TECPR2):c.220-2A>G
|
|
|
|
NM_014844.5(TECPR2):c.220-4C>A
|
rs199851151
|
|
|
NM_014844.5(TECPR2):c.220-4C>G
|
rs199851151
|
|
|
NM_014844.5(TECPR2):c.220-5C>T
|
rs2139693219
|
|
|
NM_014844.5(TECPR2):c.220-8T>A
|
rs2139693205
|
|
|
NM_014844.5(TECPR2):c.220-8T>C
|
|
|
|
NM_014844.5(TECPR2):c.220-9T>A
|
|
|
|
NM_014844.5(TECPR2):c.2202C>T (p.Ser734=)
|
rs2139731839
|
|
|
NM_014844.5(TECPR2):c.2208C>T (p.His736=)
|
rs767810451
|
|
|
NM_014844.5(TECPR2):c.2223G>A (p.Glu741=)
|
rs2139731870
|
|
|
NM_014844.5(TECPR2):c.2224C>T (p.Gln742Ter)
|
|
|
|
NM_014844.5(TECPR2):c.2232A>G (p.Pro744=)
|
rs1464300620
|
|
|
NM_014844.5(TECPR2):c.2232A>T (p.Pro744=)
|
|
|
|
NM_014844.5(TECPR2):c.2244A>C (p.Thr748=)
|
rs977750461
|
|
|
NM_014844.5(TECPR2):c.2247G>A (p.Leu749=)
|
rs2139731946
|
|
|
NM_014844.5(TECPR2):c.2249C>T (p.Thr750Met)
|
|
|
|
NM_014844.5(TECPR2):c.2256C>T (p.Ser752=)
|
rs746712279
|
|
|
NM_014844.5(TECPR2):c.2259T>C (p.Asp753=)
|
rs1889623282
|
|
|
NM_014844.5(TECPR2):c.2262G>A (p.Glu754=)
|
|
|
|
NM_014844.5(TECPR2):c.2265G>A (p.Glu755=)
|
|
|
|
NM_014844.5(TECPR2):c.2271C>T (p.Ile757=)
|
|
|
|
NM_014844.5(TECPR2):c.2273A>G (p.Tyr758Cys)
|
|
|
|
NM_014844.5(TECPR2):c.2283G>A (p.Gly761=)
|
|
|
|
NM_014844.5(TECPR2):c.2283_2284delinsTT (p.Leu762Phe)
|
|
|
|
NM_014844.5(TECPR2):c.2295A>C (p.Ser765=)
|
rs760956240
|
|
|
NM_014844.5(TECPR2):c.2306C>T (p.Thr769Met)
|
|
|
|
NM_014844.5(TECPR2):c.2312T>A (p.Val771Glu)
|
rs1555451565
|
|
|
NM_014844.5(TECPR2):c.231A>G (p.Glu77=)
|
rs2139693258
|
|
|
NM_014844.5(TECPR2):c.2322C>G (p.Leu774=)
|
|
|
|
NM_014844.5(TECPR2):c.2322C>T (p.Leu774=)
|
rs1889626955
|
|
|
NM_014844.5(TECPR2):c.2331T>C (p.Ser777=)
|
rs2139732106
|
|
|
NM_014844.5(TECPR2):c.2349G>A (p.Leu783=)
|
|
|
|
NM_014844.5(TECPR2):c.2358G>A (p.Leu786=)
|
|
|
|
NM_014844.5(TECPR2):c.2361T>A (p.Gly787=)
|
rs1595124379
|
|
|
NM_014844.5(TECPR2):c.2362G>T (p.Ala788Ser)
|
rs551027659
|
|
|
NM_014844.5(TECPR2):c.2364A>G (p.Ala788=)
|
rs2139732177
|
|
|
NM_014844.5(TECPR2):c.2367G>A (p.Glu789=)
|
rs1347947209
|
|
|
NM_014844.5(TECPR2):c.2371G>A (p.Ala791Thr)
|
|
|
|
NM_014844.5(TECPR2):c.2373C>G (p.Ala791=)
|
rs768578616
|
|
|
NM_014844.5(TECPR2):c.2374G>C (p.Gly792Arg)
|
|
|
|
NM_014844.5(TECPR2):c.2374_2377del (p.Gly792fs)
|
|
|
|
NM_014844.5(TECPR2):c.2376G>A (p.Gly792=)
|
|
|
|
NM_014844.5(TECPR2):c.2382C>G (p.Leu794=)
|
|
|
|
NM_014844.5(TECPR2):c.2394+11T>C
|
|
|
|
NM_014844.5(TECPR2):c.2394+12C>T
|
|
|
|
NM_014844.5(TECPR2):c.2394+13G>A
|
|
|
|
NM_014844.5(TECPR2):c.2394+15G>A
|
|
|
|
NM_014844.5(TECPR2):c.2394+18G>C
|
|
|
|
NM_014844.5(TECPR2):c.2394+4T>C
|
rs1567340516
|
|
|
NM_014844.5(TECPR2):c.2394+9del
|
rs2139732248
|
|
|
NM_014844.5(TECPR2):c.2395-4T>C
|
rs2139736211
|
|
|
NM_014844.5(TECPR2):c.2406C>T (p.Ser802=)
|
|
|
|
NM_014844.5(TECPR2):c.2415C>T (p.Gly805=)
|
rs2139736255
|
|
|
NM_014844.5(TECPR2):c.2421G>A (p.Ser807=)
|
|
|
|
NM_014844.5(TECPR2):c.2434G>A (p.Gly812Ser)
|
|
|
|
NM_014844.5(TECPR2):c.2436C>G (p.Gly812=)
|
|
|
|
NM_014844.5(TECPR2):c.243G>C (p.Val81=)
|
rs2139693269
|
|
|
NM_014844.5(TECPR2):c.2442C>T (p.Leu814=)
|
rs1227670267
|
|
|
NM_014844.5(TECPR2):c.2446T>C (p.Leu816=)
|
|
|
|
NM_014844.5(TECPR2):c.2451G>C (p.Val817=)
|
rs1394036960
|
|
|
NM_014844.5(TECPR2):c.2457C>T (p.Ser819=)
|
rs765475573
|
|
|
NM_014844.5(TECPR2):c.2460G>A (p.Glu820=)
|
|
|
|
NM_014844.5(TECPR2):c.2463G>A (p.Lys821=)
|
|
|
|
NM_014844.5(TECPR2):c.2463_2526del (p.Lys821fs)
|
|
|
|
NM_014844.5(TECPR2):c.246G>A (p.Val82=)
|
|
|
|
NM_014844.5(TECPR2):c.2476C>T (p.Leu826=)
|
|
|
|
NM_014844.5(TECPR2):c.2478G>A (p.Leu826=)
|
|
|
|
NM_014844.5(TECPR2):c.2478G>C (p.Leu826=)
|
|
|
|
NM_014844.5(TECPR2):c.2487A>G (p.Lys829=)
|
|
|
|
NM_014844.5(TECPR2):c.2496G>A (p.Leu832=)
|
|
|
|
NM_014844.5(TECPR2):c.24T>C (p.Val8=)
|
rs1245523859
|
|
|
NM_014844.5(TECPR2):c.2505C>T (p.Ser835=)
|
|
|
|
NM_014844.5(TECPR2):c.2507C>T (p.Ala836Val)
|
|
|
|
NM_014844.5(TECPR2):c.2508G>A (p.Ala836=)
|
rs1889724315
|
|
|
NM_014844.5(TECPR2):c.250C>T (p.Leu84=)
|
|
|
|
NM_014844.5(TECPR2):c.2511_2578+3del
|
|
|
|
NM_014844.5(TECPR2):c.2513C>G (p.Pro838Arg)
|
rs147312456
|
|
|
NM_014844.5(TECPR2):c.2513C>T (p.Pro838Leu)
|
|
|
|
NM_014844.5(TECPR2):c.2514G>A (p.Pro838=)
|
rs140913653
|
|
|
NM_014844.5(TECPR2):c.2520C>G (p.Ala840=)
|
rs767431269
|
|
|
NM_014844.5(TECPR2):c.2521G>A (p.Gly841Arg)
|
|
|
|
NM_014844.5(TECPR2):c.2524C>T (p.Leu842=)
|
|
|
|
NM_014844.5(TECPR2):c.2526G>T (p.Leu842=)
|
rs199824149
|
|
|
NM_014844.5(TECPR2):c.252G>A (p.Leu84=)
|
rs754936167
|
|
|
NM_014844.5(TECPR2):c.2532G>A (p.Trp844Ter)
|
|
|
|
NM_014844.5(TECPR2):c.2538G>A (p.Lys846=)
|
rs1889726711
|
|
|
NM_014844.5(TECPR2):c.2554C>T (p.Gln852Ter)
|
|
|
|
NM_014844.5(TECPR2):c.2562G>A (p.Val854=)
|
rs2139736604
|
|
|
NM_014844.5(TECPR2):c.2568C>T (p.Val856=)
|
|
|
|
NM_014844.5(TECPR2):c.2571G>A (p.Ser857=)
|
rs1034879315
|
|
|
NM_014844.5(TECPR2):c.2578+10C>A
|
rs1567342028
|
|
|
NM_014844.5(TECPR2):c.2578+10C>T
|
rs1567342028
|
|
|
NM_014844.5(TECPR2):c.2578+10CCCGCTCCCTGCT[3]
|
rs3831019
|
|
|
NM_014844.5(TECPR2):c.2578+10CCCGCTCCCTGCT[4]
|
rs3831019
|
|
|
NM_014844.5(TECPR2):c.2578+10CCCGCTCCCTGCT[5]
|
|
|
|
NM_014844.5(TECPR2):c.2578+10CCCGCTCCCTGCT[6]
|
rs3831019
|
|
|
NM_014844.5(TECPR2):c.2578+12C>G
|
|
|
|
NM_014844.5(TECPR2):c.2578+12C>T
|
|
|
|
NM_014844.5(TECPR2):c.2578+12_2578+31dup
|
|
|
|
NM_014844.5(TECPR2):c.2578+13G>A
|
|
|
|
NM_014844.5(TECPR2):c.2578+18C>T
|
|
|
|
NM_014844.5(TECPR2):c.2578+1G>A
|
|
|
|
NM_014844.5(TECPR2):c.2578+20G>C
|
|
|
|
NM_014844.5(TECPR2):c.2578+26_2578+57dup
|
|
|
|
NM_014844.5(TECPR2):c.2578+2T>C
|
rs2139736635
|
|
|
NM_014844.5(TECPR2):c.2578+30_2578+42del
|
rs3831019
|
|
|
NM_014844.5(TECPR2):c.2578+9C>T
|
rs2139736658
|
|
|
NM_014844.5(TECPR2):c.2579-10A>G
|
|
|
|
NM_014844.5(TECPR2):c.2579-14T>G
|
|
|
|
NM_014844.5(TECPR2):c.2579-18G>T
|
|
|
|
NM_014844.5(TECPR2):c.2579-4A>G
|
|
|
|
NM_014844.5(TECPR2):c.2579-8T>C
|
rs1567342945
|
|
|
NM_014844.5(TECPR2):c.2580A>C (p.Gly860=)
|
rs2139739719
|
|
|
NM_014844.5(TECPR2):c.2583C>G (p.Ala861=)
|
rs963230744
|
|
|
NM_014844.5(TECPR2):c.2586T>C (p.Leu862=)
|
|
|
|
NM_014844.5(TECPR2):c.2589C>A (p.Leu863=)
|
|
|
|
NM_014844.5(TECPR2):c.2589C>T (p.Leu863=)
|
|
|
|
NM_014844.5(TECPR2):c.2595G>A (p.Lys865=)
|
|
|
|
NM_014844.5(TECPR2):c.2598T>C (p.Ile866=)
|
rs757127842
|
|
|
NM_014844.5(TECPR2):c.2599G>A (p.Glu867Lys)
|
|
|
|
NM_014844.5(TECPR2):c.2599G>T (p.Glu867Ter)
|
rs200843101
|
|
|
NM_014844.5(TECPR2):c.25dup (p.Thr9fs)
|
rs1486136461
|
|
|
NM_014844.5(TECPR2):c.2604G>A (p.Gln868=)
|
|
|
|
NM_014844.5(TECPR2):c.2613C>T (p.Asn871=)
|
rs2139739770
|
|
|
NM_014844.5(TECPR2):c.2614C>T (p.Arg872Trp)
|
|
|
|
NM_014844.5(TECPR2):c.2617G>T (p.Ala873Ser)
|
rs755300630
|
|
|
NM_014844.5(TECPR2):c.2630G>A (p.Gly877Glu)
|
|
|
|
NM_014844.5(TECPR2):c.2646G>A (p.Lys882=)
|
rs2139739815
|
|
|
NM_014844.5(TECPR2):c.2649del (p.Lys884fs)
|
|
|
|
NM_014844.5(TECPR2):c.2653C>A (p.Arg885=)
|
|
|
|
NM_014844.5(TECPR2):c.2655G>A (p.Arg885=)
|
rs200100396
|
|
|
NM_014844.5(TECPR2):c.2658C>T (p.His886=)
|
|
|
|
NM_014844.5(TECPR2):c.2661G>A (p.Trp887Ter)
|
|
|
|
NM_014844.5(TECPR2):c.2667A>G (p.Glu889=)
|
rs2139739840
|
|
|
NM_014844.5(TECPR2):c.2676C>T (p.Pro892=)
|
|
|
|
NM_014844.5(TECPR2):c.2683G>A (p.Val895Met)
|
rs764000123
|
|
|
NM_014844.5(TECPR2):c.2688T>C (p.Phe896=)
|
|
|
|
NM_014844.5(TECPR2):c.2709G>A (p.Thr903=)
|
rs977517679
|
|
|
NM_014844.5(TECPR2):c.2709G>T (p.Thr903=)
|
rs977517679
|
|
|
NM_014844.5(TECPR2):c.270C>T (p.Asp90=)
|
rs1888687639
|
|
|
NM_014844.5(TECPR2):c.2712C>G (p.Ala904=)
|
|
|
|
NM_014844.5(TECPR2):c.2712C>T (p.Ala904=)
|
rs1889801916
|
|
|
NM_014844.5(TECPR2):c.2718C>T (p.Ile906=)
|
rs758523749
|
|
|
NM_014844.5(TECPR2):c.271C>T (p.Leu91=)
|
|
|
|
NM_014844.5(TECPR2):c.2727C>A (p.Thr909=)
|
|
|
|
NM_014844.5(TECPR2):c.2727C>T (p.Thr909=)
|
|
|
|
NM_014844.5(TECPR2):c.2733G>A (p.Gly911=)
|
rs2139739942
|
|
|
NM_014844.5(TECPR2):c.2742C>T (p.Tyr914=)
|
|
|
|
NM_014844.5(TECPR2):c.2752+10G>A
|
|
|
|
NM_014844.5(TECPR2):c.2752+11G>A
|
|
|
|
NM_014844.5(TECPR2):c.2752+13C>T
|
|
|
|
NM_014844.5(TECPR2):c.2752+15C>T
|
|
|
|
NM_014844.5(TECPR2):c.2752+16G>A
|
|
|
|
NM_014844.5(TECPR2):c.2752+16G>C
|
|
|
|
NM_014844.5(TECPR2):c.2752+20dup
|
|
|
|
NM_014844.5(TECPR2):c.2752+6C>T
|
|
|
|
NM_014844.5(TECPR2):c.2753-11C>G
|
|
|
|
NM_014844.5(TECPR2):c.2753-13A>G
|
|
|
|
NM_014844.5(TECPR2):c.2753-15C>G
|
|
|
|
NM_014844.5(TECPR2):c.2753-16C>A
|
|
|
|
NM_014844.5(TECPR2):c.2753-16C>T
|
|
|
|
NM_014844.5(TECPR2):c.2753-1G>A
|
rs1276623521
|
|
|
NM_014844.5(TECPR2):c.2753-20T>G
|
|
|
|
NM_014844.5(TECPR2):c.276G>A (p.Val92=)
|
|
|
|
NM_014844.5(TECPR2):c.2784C>T (p.Ala928=)
|
rs1429128742
|
|
|
NM_014844.5(TECPR2):c.2785G>A (p.Val929Ile)
|
rs766411435
|
|
|
NM_014844.5(TECPR2):c.2787A>T (p.Val929=)
|
|
|
|
NM_014844.5(TECPR2):c.2790G>A (p.Lys930=)
|
|
|
|
NM_014844.5(TECPR2):c.2793G>A (p.Val931=)
|
rs1424632059
|
|
|
NM_014844.5(TECPR2):c.279A>G (p.Ala93=)
|
rs771084905
|
|
|
NM_014844.5(TECPR2):c.27A>G (p.Thr9=)
|
rs2139656538
|
|
|
NM_014844.5(TECPR2):c.2802C>T (p.Pro934=)
|
rs1304111478
|
|
|
NM_014844.5(TECPR2):c.2829G>A (p.Arg943=)
|
rs149657602
|
|
|
NM_014844.5(TECPR2):c.2829del (p.Asn944fs)
|
rs1889895576
|
|
|
NM_014844.5(TECPR2):c.282A>C (p.Ala94=)
|
|
|
|
NM_014844.5(TECPR2):c.2832C>T (p.Asn944=)
|
rs1595129353
|
|
|
NM_014844.5(TECPR2):c.2834A>G (p.Asn945Ser)
|
rs1889895853
|
|
|
NM_014844.5(TECPR2):c.2837T>C (p.Val946Ala)
|
rs1889895936
|
|
|
NM_014844.5(TECPR2):c.2841G>A (p.Val947=)
|
|
|
|
NM_014844.5(TECPR2):c.2846C>A (p.Ala949Glu)
|
|
|
|
NM_014844.5(TECPR2):c.2850G>A (p.Leu950=)
|
|
|
|
NM_014844.5(TECPR2):c.2853A>T (p.Thr951=)
|
|
|
|
NM_014844.5(TECPR2):c.2854G>C (p.Glu952Gln)
|
|
|
|
NM_014844.5(TECPR2):c.2868C>G (p.Leu956=)
|
|
|
|
NM_014844.5(TECPR2):c.2868C>T (p.Leu956=)
|
|
|
|
NM_014844.5(TECPR2):c.2873A>T (p.Tyr958Phe)
|
|
|
|
NM_014844.5(TECPR2):c.2880G>A (p.Glu960=)
|
|
|
|
NM_014844.5(TECPR2):c.288A>G (p.Thr96=)
|
rs2139693336
|
|
|
NM_014844.5(TECPR2):c.2895C>T (p.Phe965=)
|
|
|
|
NM_014844.5(TECPR2):c.2901G>A (p.Pro967=)
|
rs202209194
|
|
|
NM_014844.5(TECPR2):c.2901G>C (p.Pro967=)
|
rs202209194
|
|
|
NM_014844.5(TECPR2):c.2910G>A (p.Glu970=)
|
|
|
|
NM_014844.5(TECPR2):c.2913G>A (p.Gln971=)
|
|
|
|
NM_014844.5(TECPR2):c.2915G>A (p.Trp972Ter)
|
rs2139743890
|
|
|
NM_014844.5(TECPR2):c.2919G>A (p.Lys973=)
|
rs2139743904
|
|
|
NM_014844.5(TECPR2):c.291C>T (p.Ala97=)
|
|
|
|
NM_014844.5(TECPR2):c.2928T>C (p.Ile976=)
|
rs2139743917
|
|
|
NM_014844.5(TECPR2):c.2933+12C>T
|
|
|
|
NM_014844.5(TECPR2):c.2933+19C>G
|
|
|
|
NM_014844.5(TECPR2):c.2933+8C>G
|
|
|
|
NM_014844.5(TECPR2):c.2933+8C>T
|
|
|
|
NM_014844.5(TECPR2):c.2934-11C>G
|
|
|
|
NM_014844.5(TECPR2):c.2934-12C>T
|
|
|
|
NM_014844.5(TECPR2):c.2934-12_2934-10del
|
|
|
|
NM_014844.5(TECPR2):c.2934-14C>G
|
|
|
|
NM_014844.5(TECPR2):c.2934-4T>C
|
|
|
|
NM_014844.5(TECPR2):c.2934-4T>G
|
rs2139746457
|
|
|
NM_014844.5(TECPR2):c.2934-7T>C
|
|
|
|
NM_014844.5(TECPR2):c.2934-9T>C
|
rs956894657
|
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NM_014844.5(TECPR2):c.2934C>T (p.Ser978=)
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NM_014844.5(TECPR2):c.2937A>G (p.Glu979=)
|
rs2139746472
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NM_014844.5(TECPR2):c.2946T>C (p.Ala982=)
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NM_014844.5(TECPR2):c.2953C>A (p.Pro985Thr)
|
rs374430400
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NM_014844.5(TECPR2):c.2953C>T (p.Pro985Ser)
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|
NM_014844.5(TECPR2):c.2955del (p.Val986fs)
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NM_014844.5(TECPR2):c.2967G>C (p.Thr989=)
|
rs1345090533
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NM_014844.5(TECPR2):c.2967G>T (p.Thr989=)
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NM_014844.5(TECPR2):c.2979G>A (p.Gln993=)
|
rs1889962080
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NM_014844.5(TECPR2):c.2985T>C (p.Thr995=)
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NM_014844.5(TECPR2):c.2988_2989del (p.Trp997fs)
|
rs2139746567
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NM_014844.5(TECPR2):c.298A>C (p.Arg100=)
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|
NM_014844.5(TECPR2):c.298A>G (p.Arg100Gly)
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|
NM_014844.5(TECPR2):c.2997G>T (p.Leu999=)
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NM_014844.5(TECPR2):c.2998G>T (p.Asp1000Tyr)
|
rs1889962674
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NM_014844.5(TECPR2):c.3005A>G (p.His1002Arg)
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|
NM_014844.5(TECPR2):c.300G>A (p.Arg100=)
|
rs775773107
|
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NM_014844.5(TECPR2):c.3015G>A (p.Leu1005=)
|
rs1199079616
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NM_014844.5(TECPR2):c.3027T>G (p.Thr1009=)
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NM_014844.5(TECPR2):c.3028G>A (p.Gly1010Ser)
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NM_014844.5(TECPR2):c.3049del (p.Gln1017fs)
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NM_014844.5(TECPR2):c.3051A>G (p.Gln1017=)
|
rs1595130641
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NM_014844.5(TECPR2):c.3061G>A (p.Asp1021Asn)
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NM_014844.5(TECPR2):c.3063C>T (p.Asp1021=)
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NM_014844.5(TECPR2):c.3066T>C (p.His1022=)
|
rs1227747201
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NM_014844.5(TECPR2):c.306A>G (p.Ala102=)
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|
NM_014844.5(TECPR2):c.3073C>A (p.Gln1025Lys)
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NM_014844.5(TECPR2):c.3075+14T>C
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NM_014844.5(TECPR2):c.3075+16T>C
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NM_014844.5(TECPR2):c.3075+19G>A
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NM_014844.5(TECPR2):c.3075+1G>A
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NM_014844.5(TECPR2):c.3075+2T>C
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NM_014844.5(TECPR2):c.3076-11C>A
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NM_014844.5(TECPR2):c.3076-13C>G
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NM_014844.5(TECPR2):c.3076-13C>T
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NM_014844.5(TECPR2):c.3076-17T>A
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NM_014844.5(TECPR2):c.3076-18C>T
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NM_014844.5(TECPR2):c.3076-8C>T
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NM_014844.5(TECPR2):c.3078G>A (p.Val1026=)
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NM_014844.5(TECPR2):c.3081C>T (p.Ser1027=)
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NM_014844.5(TECPR2):c.3086C>T (p.Thr1029Met)
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NM_014844.5(TECPR2):c.3099G>A (p.Val1033=)
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NM_014844.5(TECPR2):c.3106C>T (p.Gln1036Ter)
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NM_014844.5(TECPR2):c.3111C>T (p.Cys1037=)
|
rs560017522
|
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NM_014844.5(TECPR2):c.3125C>T (p.Thr1042Met)
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NM_014844.5(TECPR2):c.3132C>A (p.Ile1044=)
|
rs1463061657
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NM_014844.5(TECPR2):c.3132C>T (p.Ile1044=)
|
rs1463061657
|
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NM_014844.5(TECPR2):c.3138C>G (p.Ala1046=)
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NM_014844.5(TECPR2):c.3139A>C (p.Thr1047Pro)
|
rs1890088141
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NM_014844.5(TECPR2):c.3150G>A (p.Val1050=)
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NM_014844.5(TECPR2):c.3153C>T (p.Ala1051=)
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NM_014844.5(TECPR2):c.315A>G (p.Gln105=)
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NM_014844.5(TECPR2):c.3180G>A (p.Lys1060=)
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NM_014844.5(TECPR2):c.3186A>G (p.Ala1062=)
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NM_014844.5(TECPR2):c.321A>G (p.Val107=)
|
rs2139693389
|
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NM_014844.5(TECPR2):c.3225G>A (p.Gln1075=)
|
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NM_014844.5(TECPR2):c.3230A>C (p.Gln1077Pro)
|
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NM_014844.5(TECPR2):c.3243C>G (p.Leu1081=)
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NM_014844.5(TECPR2):c.3246_3247del (p.Val1083fs)
|
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NM_014844.5(TECPR2):c.324T>C (p.Ser108=)
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NM_014844.5(TECPR2):c.324T>G (p.Ser108=)
|
rs2139693393
|
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NM_014844.5(TECPR2):c.3252T>C (p.Asn1084=)
|
rs2139751474
|
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NM_014844.5(TECPR2):c.3259G>A (p.Gly1087Ser)
|
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|
NM_014844.5(TECPR2):c.3261T>C (p.Gly1087=)
|
rs1022446212
|
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NM_014844.5(TECPR2):c.3264C>T (p.Val1088=)
|
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NM_014844.5(TECPR2):c.3270C>T (p.Ile1090=)
|
rs2139751506
|
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NM_014844.5(TECPR2):c.3275C>G (p.Ser1092Trp)
|
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NM_014844.5(TECPR2):c.3276G>A (p.Ser1092=)
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NM_014844.5(TECPR2):c.327A>G (p.Ser109=)
|
rs2139693401
|
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NM_014844.5(TECPR2):c.3298G>A (p.Ala1100Thr)
|
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|
NM_014844.5(TECPR2):c.3300T>C (p.Ala1100=)
|
rs2139751557
|
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|
NM_014844.5(TECPR2):c.3316+17A>G
|
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NM_014844.5(TECPR2):c.3317-12T>G
|
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NM_014844.5(TECPR2):c.3317-13T>C
|
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NM_014844.5(TECPR2):c.3317-14_3317-11del
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NM_014844.5(TECPR2):c.3317-15A>G
|
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NM_014844.5(TECPR2):c.3317-20T>C
|
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NM_014844.5(TECPR2):c.3317-6T>C
|
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NM_014844.5(TECPR2):c.3317-8C>G
|
rs1465356405
|
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NM_014844.5(TECPR2):c.3318C>T (p.Gly1106=)
|
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|
|
NM_014844.5(TECPR2):c.3326G>A (p.Trp1109Ter)
|
rs2139752366
|
|
|
NM_014844.5(TECPR2):c.3332_3333del (p.His1111fs)
|
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|
|
NM_014844.5(TECPR2):c.3336G>A (p.Val1112=)
|
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|
NM_014844.5(TECPR2):c.3345T>C (p.Arg1115=)
|
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NM_014844.5(TECPR2):c.3345T>G (p.Arg1115=)
|
rs759253652
|
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|
NM_014844.5(TECPR2):c.3348G>A (p.Gly1116=)
|
rs1890113154
|
|
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NM_014844.5(TECPR2):c.3348G>C (p.Gly1116=)
|
rs1890113154
|
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|
NM_014844.5(TECPR2):c.3360T>C (p.Ala1120=)
|
rs774314281
|
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|
NM_014844.5(TECPR2):c.3378G>T (p.Val1126=)
|
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|
NM_014844.5(TECPR2):c.3387T>C (p.Ser1129=)
|
rs761820530
|
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|
NM_014844.5(TECPR2):c.3390A>T (p.Ala1130=)
|
rs2139752492
|
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NM_014844.5(TECPR2):c.3396C>T (p.Pro1132=)
|
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|
|
NM_014844.5(TECPR2):c.3396del (p.Thr1133fs)
|
rs2139752512
|
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NM_014844.5(TECPR2):c.3398C>T (p.Thr1133Met)
|
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|
|
NM_014844.5(TECPR2):c.3402G>A (p.Lys1134=)
|
rs1399376307
|
|
|
NM_014844.5(TECPR2):c.3406+10T>C
|
rs2139752572
|
|
|
NM_014844.5(TECPR2):c.3406+11C>G
|
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|
NM_014844.5(TECPR2):c.3406+17C>G
|
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|
NM_014844.5(TECPR2):c.3407-10C>T
|
rs1208446956
|
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|
NM_014844.5(TECPR2):c.3407-10del
|
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|
|
NM_014844.5(TECPR2):c.3407-12C>T
|
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|
NM_014844.5(TECPR2):c.3407-13C>A
|
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|
NM_014844.5(TECPR2):c.3407-17A>G
|
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NM_014844.5(TECPR2):c.3407-20A>G
|
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|
NM_014844.5(TECPR2):c.3407-4G>A
|
rs2139755012
|
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NM_014844.5(TECPR2):c.3407-4G>T
|
rs2139755012
|
|
|
NM_014844.5(TECPR2):c.3407-5T>G
|
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|
|
NM_014844.5(TECPR2):c.3407-7T>C
|
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|
|
NM_014844.5(TECPR2):c.3414C>T (p.Phe1138=)
|
rs748935247
|
|
|
NM_014844.5(TECPR2):c.3417G>A (p.Leu1139=)
|
rs1254280027
|
|
|
NM_014844.5(TECPR2):c.3417G>T (p.Leu1139=)
|
|
|
|
NM_014844.5(TECPR2):c.3418T>G (p.Trp1140Gly)
|
rs1890167079
|
|
|
NM_014844.5(TECPR2):c.3435C>T (p.Ser1145=)
|
|
|
|
NM_014844.5(TECPR2):c.3441C>T (p.Asp1147=)
|
rs1595133753
|
|
|
NM_014844.5(TECPR2):c.3447C>T (p.Cys1149=)
|
rs2139755102
|
|
|
NM_014844.5(TECPR2):c.3450C>T (p.Ser1150=)
|
rs772139465
|
|
|
NM_014844.5(TECPR2):c.3451G>A (p.Val1151Ile)
|
|
|
|
NM_014844.5(TECPR2):c.3453C>G (p.Val1151=)
|
|
|
|
NM_014844.5(TECPR2):c.3456C>T (p.Ser1152=)
|
rs199827410
|
|
|
NM_014844.5(TECPR2):c.3459C>T (p.Ala1153=)
|
|
|
|
NM_014844.5(TECPR2):c.3460C>T (p.Gln1154Ter)
|
|
|
|
NM_014844.5(TECPR2):c.3465C>T (p.Ser1155=)
|
rs75004775
|
|
|
NM_014844.5(TECPR2):c.3469_3470del (p.Gln1157fs)
|
rs2139755178
|
|
|
NM_014844.5(TECPR2):c.3471G>A (p.Gln1157=)
|
|
|
|
NM_014844.5(TECPR2):c.3473C>T (p.Ser1158Leu)
|
|
|
|
NM_014844.5(TECPR2):c.3474G>A (p.Ser1158=)
|
rs376646346
|
|
|
NM_014844.5(TECPR2):c.3474G>T (p.Ser1158=)
|
rs376646346
|
|
|
NM_014844.5(TECPR2):c.348+15T>C
|
|
|
|
NM_014844.5(TECPR2):c.348+17T>G
|
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|
|
NM_014844.5(TECPR2):c.3480C>G (p.Pro1160=)
|
|
|
|
NM_014844.5(TECPR2):c.3480C>T (p.Pro1160=)
|
|
|
|
NM_014844.5(TECPR2):c.3483C>T (p.Ser1161=)
|
|
|
|
NM_014844.5(TECPR2):c.3486G>T (p.Thr1162=)
|
rs747983532
|
|
|
NM_014844.5(TECPR2):c.3489G>A (p.Val1163=)
|
rs2139755240
|
|
|
NM_014844.5(TECPR2):c.349-13C>A
|
|
|
|
NM_014844.5(TECPR2):c.349-19T>G
|
|
|
|
NM_014844.5(TECPR2):c.349-4A>G
|
|
|
|
NM_014844.5(TECPR2):c.3495G>A (p.Leu1165=)
|
rs2139755257
|
|
|
NM_014844.5(TECPR2):c.3495G>T (p.Leu1165=)
|
rs2139755257
|
|
|
NM_014844.5(TECPR2):c.3498T>A (p.Pro1166=)
|
rs1595133819
|
|
|
NM_014844.5(TECPR2):c.34G>T (p.Glu12Ter)
|
rs2139656549
|
|
|
NM_014844.5(TECPR2):c.3500C>T (p.Pro1167Leu)
|
rs2139755269
|
|
|
NM_014844.5(TECPR2):c.3501C>A (p.Pro1167=)
|
|
|
|
NM_014844.5(TECPR2):c.3501C>G (p.Pro1167=)
|
|
|
|
NM_014844.5(TECPR2):c.3502G>A (p.Glu1168Lys)
|
|
|
|
NM_014844.5(TECPR2):c.3502G>T (p.Glu1168Ter)
|
|
|
|
NM_014844.5(TECPR2):c.3507C>A (p.Ala1169=)
|
|
|
|
NM_014844.5(TECPR2):c.3508_3532dup (p.Gln1178fs)
|
|
|
|
NM_014844.5(TECPR2):c.351T>A (p.Leu117=)
|
|
|
|
NM_014844.5(TECPR2):c.3525C>G (p.Ala1175=)
|
rs559134152
|
|
|
NM_014844.5(TECPR2):c.3526G>A (p.Ala1176Thr)
|
|
|
|
NM_014844.5(TECPR2):c.3528C>A (p.Ala1176=)
|
|
|
|
NM_014844.5(TECPR2):c.3534G>A (p.Gln1178=)
|
|
|
|
NM_014844.5(TECPR2):c.3543G>A (p.Leu1181=)
|
rs894571102
|
|
|
NM_014844.5(TECPR2):c.3550C>T (p.Leu1184=)
|
|
|
|
NM_014844.5(TECPR2):c.3561C>T (p.Leu1187=)
|
|
|
|
NM_014844.5(TECPR2):c.3565C>T (p.Gln1189Ter)
|
|
|
|
NM_014844.5(TECPR2):c.3570G>A (p.Val1190=)
|
rs1595133898
|
|
|
NM_014844.5(TECPR2):c.3581C>T (p.Thr1194Met)
|
|
|
|
NM_014844.5(TECPR2):c.3582G>T (p.Thr1194=)
|
|
|
|
NM_014844.5(TECPR2):c.3585C>G (p.Leu1195=)
|
|
|
|
NM_014844.5(TECPR2):c.3585C>T (p.Leu1195=)
|
rs774384501
|
|
|
NM_014844.5(TECPR2):c.3594C>T (p.Ser1198=)
|
rs2139755542
|
|
|
NM_014844.5(TECPR2):c.35_36del (p.Glu12fs)
|
rs1259941860
|
|
|
NM_014844.5(TECPR2):c.3619_3628dup (p.Leu1210fs)
|
|
|
|
NM_014844.5(TECPR2):c.3621G>A (p.Arg1207=)
|
rs1437180075
|
|
|
NM_014844.5(TECPR2):c.3630C>T (p.Leu1210=)
|
rs2139755667
|
|
|
NM_014844.5(TECPR2):c.3640+14G>A
|
|
|
|
NM_014844.5(TECPR2):c.3640+14G>T
|
|
|
|
NM_014844.5(TECPR2):c.3640+8C>T
|
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|
|
NM_014844.5(TECPR2):c.3640+9A>C
|
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|
|
NM_014844.5(TECPR2):c.3641-10T>G
|
rs2139771499
|
|
|
NM_014844.5(TECPR2):c.3641-12_3641-9del
|
|
|
|
NM_014844.5(TECPR2):c.3641-12del
|
|
|
|
NM_014844.5(TECPR2):c.3641-2A>G
|
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|
|
NM_014844.5(TECPR2):c.3641-6C>T
|
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|
|
NM_014844.5(TECPR2):c.3641-7_3641-4del
|
|
|
|
NM_014844.5(TECPR2):c.3641-8A>C
|
rs775147521
|
|
|
NM_014844.5(TECPR2):c.3641-8A>G
|
rs775147521
|
|
|
NM_014844.5(TECPR2):c.3641-8A>T
|
rs775147521
|
|
|
NM_014844.5(TECPR2):c.3657A>G (p.Thr1219=)
|
rs2139771546
|
|
|
NM_014844.5(TECPR2):c.3672A>C (p.Gly1224=)
|
rs2139771578
|
|
|
NM_014844.5(TECPR2):c.3678G>A (p.Gln1226=)
|
|
|
|
NM_014844.5(TECPR2):c.3686G>A (p.Trp1229Ter)
|
rs2139771589
|
|
|
NM_014844.5(TECPR2):c.3690C>G (p.Ala1230=)
|
|
|
|
NM_014844.5(TECPR2):c.3690C>T (p.Ala1230=)
|
|
|
|
NM_014844.5(TECPR2):c.3704G>A (p.Gly1235Asp)
|
rs1890527067
|
|
|
NM_014844.5(TECPR2):c.3705T>A (p.Gly1235=)
|
|
|
|
NM_014844.5(TECPR2):c.3708A>T (p.Gly1236=)
|
rs777191623
|
|
|
NM_014844.5(TECPR2):c.3709G>A (p.Val1237Ile)
|
|
|
|
NM_014844.5(TECPR2):c.3717C>T (p.Phe1239=)
|
rs2139771655
|
|
|
NM_014844.5(TECPR2):c.3732G>A (p.Gln1244=)
|
|
|
|
NM_014844.5(TECPR2):c.3737_3738del (p.Leu1246fs)
|
rs2139771682
|
|
|
NM_014844.5(TECPR2):c.3738C>G (p.Leu1246=)
|
|
|
|
NM_014844.5(TECPR2):c.3738C>T (p.Leu1246=)
|
|
|
|
NM_014844.5(TECPR2):c.3750C>A (p.Leu1250=)
|
rs767100178
|
|
|
NM_014844.5(TECPR2):c.3750C>T (p.Leu1250=)
|
rs767100178
|
|
|
NM_014844.5(TECPR2):c.3750_3763dup (p.Trp1255fs)
|
|
|
|
NM_014844.5(TECPR2):c.3759A>G (p.Pro1253=)
|
rs1383569987
|
|
|
NM_014844.5(TECPR2):c.3777G>A (p.Glu1259=)
|
|
|
|
NM_014844.5(TECPR2):c.3780A>T (p.Pro1260=)
|
rs1357421383
|
|
|
NM_014844.5(TECPR2):c.3783T>C (p.Pro1261=)
|
rs2139771750
|
|
|
NM_014844.5(TECPR2):c.3784G>A (p.Val1262Ile)
|
rs2139771757
|
|
|
NM_014844.5(TECPR2):c.3787C>A (p.Gln1263Lys)
|
|
|
|
NM_014844.5(TECPR2):c.3787del (p.Gln1263fs)
|
|
|
|
NM_014844.5(TECPR2):c.3789+19G>A
|
|
|
|
NM_014844.5(TECPR2):c.3789+1G>C
|
rs2139771776
|
|
|
NM_014844.5(TECPR2):c.378C>T (p.His126=)
|
rs1407686987
|
|
|
NM_014844.5(TECPR2):c.3790-11C>T
|
|
|
|
NM_014844.5(TECPR2):c.3790-13T>C
|
|
|
|
NM_014844.5(TECPR2):c.3790-15C>A
|
|
|
|
NM_014844.5(TECPR2):c.3790-2A>C
|
|
|
|
NM_014844.5(TECPR2):c.3790-8G>C
|
rs772801372
|
|
|
NM_014844.5(TECPR2):c.3791C>A (p.Pro1264His)
|
rs760298134
|
|
|
NM_014844.5(TECPR2):c.3793G>A (p.Ala1265Thr)
|
rs140840591
|
|
|
NM_014844.5(TECPR2):c.3793G>T (p.Ala1265Ser)
|
rs140840591
|
|
|
NM_014844.5(TECPR2):c.3795C>G (p.Ala1265=)
|
|
|
|
NM_014844.5(TECPR2):c.3795C>T (p.Ala1265=)
|
rs1438091716
|
|
|
NM_014844.5(TECPR2):c.3798G>T (p.Gly1266=)
|
rs916782689
|
|
|
NM_014844.5(TECPR2):c.3816C>T (p.Val1272=)
|
|
|
|
NM_014844.5(TECPR2):c.3830del (p.Asn1277fs)
|
rs1891300695
|
|
|
NM_014844.5(TECPR2):c.3849G>A (p.Val1283=)
|
|
|
|
NM_014844.5(TECPR2):c.3863G>A (p.Trp1288Ter)
|
|
|
|
NM_014844.5(TECPR2):c.386G>A (p.Ser129Asn)
|
|
|
|
NM_014844.5(TECPR2):c.3876G>A (p.Val1292=)
|
rs2139803008
|
|
|
NM_014844.5(TECPR2):c.3877C>A (p.Arg1293=)
|
|
|
|
NM_014844.5(TECPR2):c.387C>T (p.Ser129=)
|
|
|
|
NM_014844.5(TECPR2):c.3882C>A (p.Thr1294=)
|
|
|
|
NM_014844.5(TECPR2):c.3885G>A (p.Gly1295=)
|
|
|
|
NM_014844.5(TECPR2):c.3888C>T (p.Ile1296=)
|
|
|
|
NM_014844.5(TECPR2):c.3891C>G (p.Thr1297=)
|
|
|
|
NM_014844.5(TECPR2):c.3912C>G (p.Thr1304=)
|
rs748689796
|
|
|
NM_014844.5(TECPR2):c.3913G>A (p.Ala1305Thr)
|
rs573719989
|
|
|
NM_014844.5(TECPR2):c.3913G>T (p.Ala1305Ser)
|
rs573719989
|
|
|
NM_014844.5(TECPR2):c.3915C>G (p.Ala1305=)
|
rs746463597
|
|
|
NM_014844.5(TECPR2):c.3915C>T (p.Ala1305=)
|
rs746463597
|
|
|
NM_014844.5(TECPR2):c.3918G>A (p.Trp1306Ter)
|
|
|
|
NM_014844.5(TECPR2):c.3921G>A (p.Glu1307=)
|
|
|
|
NM_014844.5(TECPR2):c.3927G>A (p.Val1309=)
|
|
|
|
NM_014844.5(TECPR2):c.3931+10T>C
|
rs776100340
|
|
|
NM_014844.5(TECPR2):c.3931+11G>A
|
|
|
|
NM_014844.5(TECPR2):c.3931+13A>G
|
|
|
|
NM_014844.5(TECPR2):c.3931+17_3931+18del
|
|
|
|
NM_014844.5(TECPR2):c.3931+7G>A
|
rs1475688517
|
|
|
NM_014844.5(TECPR2):c.3931+8C>G
|
|
|
|
NM_014844.5(TECPR2):c.3931+9del
|
rs2139803114
|
|
|
NM_014844.5(TECPR2):c.3932-12G>T
|
rs1891318411
|
|
|
NM_014844.5(TECPR2):c.3932-16C>T
|
|
|
|
NM_014844.5(TECPR2):c.3932-17A>C
|
|
|
|
NM_014844.5(TECPR2):c.3932-18G>A
|
|
|
|
NM_014844.5(TECPR2):c.3932-4A>C
|
rs2139803614
|
|
|
NM_014844.5(TECPR2):c.3932-7C>T
|
rs2139803612
|
|
|
NM_014844.5(TECPR2):c.3933G>C (p.Gly1311=)
|
|
|
|
NM_014844.5(TECPR2):c.3942del (p.Cys1315fs)
|
rs2139803627
|
|
|
NM_014844.5(TECPR2):c.3945C>T (p.Cys1315=)
|
|
|
|
NM_014844.5(TECPR2):c.3946C>T (p.Gln1316Ter)
|
rs2139803640
|
|
|
NM_014844.5(TECPR2):c.3948G>A (p.Gln1316=)
|
|
|
|
NM_014844.5(TECPR2):c.3953C>T (p.Ala1318Val)
|
|
|
|
NM_014844.5(TECPR2):c.3954G>A (p.Ala1318=)
|
rs779731666
|
|
|
NM_014844.5(TECPR2):c.3955C>T (p.Leu1319=)
|
rs1480455681
|
|
|
NM_014844.5(TECPR2):c.3957G>A (p.Leu1319=)
|
|
|
|
NM_014844.5(TECPR2):c.3969C>A (p.Thr1323=)
|
rs562186436
|
|
|
NM_014844.5(TECPR2):c.396T>C (p.Ala132=)
|
rs2139694770
|
|
|
NM_014844.5(TECPR2):c.4003C>T (p.Arg1335Trp)
|
|
|
|
NM_014844.5(TECPR2):c.4007G>A (p.Arg1336Gln)
|
|
|
|
NM_014844.5(TECPR2):c.4014C>G (p.Gly1338=)
|
rs372319066
|
|
|
NM_014844.5(TECPR2):c.4020A>G (p.Thr1340=)
|
rs2139803785
|
|
|
NM_014844.5(TECPR2):c.4023C>T (p.Asp1341=)
|
rs1891323763
|
|
|
NM_014844.5(TECPR2):c.4029C>A (p.Asn1343Lys)
|
|
|
|
NM_014844.5(TECPR2):c.402T>G (p.Ala134=)
|
rs765053622
|
|
|
NM_014844.5(TECPR2):c.4030C>G (p.Pro1344Ala)
|
rs763133422
|
|
|
NM_014844.5(TECPR2):c.4032C>A (p.Pro1344=)
|
|
|
|
NM_014844.5(TECPR2):c.4033G>C (p.Ala1345Pro)
|
rs77170608
|
|
|
NM_014844.5(TECPR2):c.4071G>A (p.Ser1357=)
|
rs553124565
|
|
|
NM_014844.5(TECPR2):c.4071G>T (p.Ser1357=)
|
|
|
|
NM_014844.5(TECPR2):c.4081+11G>A
|
|
|
|
NM_014844.5(TECPR2):c.4081+12G>C
|
|
|
|
NM_014844.5(TECPR2):c.4081+17A>G
|
|
|
|
NM_014844.5(TECPR2):c.4081+18G>C
|
|
|
|
NM_014844.5(TECPR2):c.4081+8C>G
|
rs199845217
|
|
|
NM_014844.5(TECPR2):c.4082-17G>C
|
|
|
|
NM_014844.5(TECPR2):c.4082-20_4082-17del
|
|
|
|
NM_014844.5(TECPR2):c.4082-3C>T
|
|
|
|
NM_014844.5(TECPR2):c.4082-6C>T
|
|
|
|
NM_014844.5(TECPR2):c.4082-8C>T
|
rs2139804322
|
|
|
NM_014844.5(TECPR2):c.408C>A (p.Ser136Arg)
|
|
|
|
NM_014844.5(TECPR2):c.4095T>C (p.Asp1365=)
|
|
|
|
NM_014844.5(TECPR2):c.4101G>A (p.Leu1367=)
|
|
|
|
NM_014844.5(TECPR2):c.4103G>A (p.Trp1368Ter)
|
rs1891340555
|
|
|
NM_014844.5(TECPR2):c.4113C>T (p.Gly1371=)
|
|
|
|
NM_014844.5(TECPR2):c.4116G>A (p.Pro1372=)
|
rs777406369
|
|
|
NM_014844.5(TECPR2):c.4116G>T (p.Pro1372=)
|
rs777406369
|
|
|
NM_014844.5(TECPR2):c.4120G>A (p.Gly1374Ser)
|
|
|
|
NM_014844.5(TECPR2):c.4128C>T (p.Leu1376=)
|
|
|
|
NM_014844.5(TECPR2):c.4135C>T (p.Arg1379Trp)
|
|
|
|
NM_014844.5(TECPR2):c.4137G>T (p.Arg1379=)
|
rs1891342099
|
|
|
NM_014844.5(TECPR2):c.4152C>T (p.Phe1384=)
|
|
|
|
NM_014844.5(TECPR2):c.4155C>T (p.Ser1385=)
|
|
|
|
NM_014844.5(TECPR2):c.4161G>C (p.Ser1387=)
|
|
|
|
NM_014844.5(TECPR2):c.4161G>T (p.Ser1387=)
|
|
|
|
NM_014844.5(TECPR2):c.4164C>T (p.His1388=)
|
rs1891343326
|
|
|
NM_014844.5(TECPR2):c.4165G>A (p.Gly1389Ser)
|
|
|
|
NM_014844.5(TECPR2):c.4176G>A (p.Lys1392=)
|
rs1555455691
|
|
|
NM_014844.5(TECPR2):c.4185G>A (p.Gln1395=)
|
rs2139804455
|
|
|
NM_014844.5(TECPR2):c.4194G>A (p.Met1398Ile)
|
rs757191728
|
|
|
NM_014844.5(TECPR2):c.4206G>A (p.Glu1402=)
|
|
|
|
NM_014844.5(TECPR2):c.4212G>A (p.Leu1404=)
|
rs921489533
|
|
|
NM_014844.5(TECPR2):c.4219G>A (p.Glu1407Lys)
|
|
|
|
NM_014844.5(TECPR2):c.423A>G (p.Lys141=)
|
rs756199626
|
|
|
NM_014844.5(TECPR2):c.424T>C (p.Leu142=)
|
|
|
|
NM_014844.5(TECPR2):c.426G>A (p.Leu142=)
|
|
|
|
NM_014844.5(TECPR2):c.432T>C (p.Ser144=)
|
rs2139694801
|
|
|
NM_014844.5(TECPR2):c.438T>C (p.Asp146=)
|
rs1888728941
|
|
|
NM_014844.5(TECPR2):c.453T>A (p.Ile151=)
|
rs1270647111
|
|
|
NM_014844.5(TECPR2):c.459T>C (p.Tyr153=)
|
rs2139694818
|
|
|
NM_014844.5(TECPR2):c.45G>C (p.Pro15=)
|
|
|
|
NM_014844.5(TECPR2):c.480+13T>C
|
|
|
|
NM_014844.5(TECPR2):c.480+14C>T
|
|
|
|
NM_014844.5(TECPR2):c.480+16G>A
|
|
|
|
NM_014844.5(TECPR2):c.480+17A>G
|
|
|
|
NM_014844.5(TECPR2):c.480+19A>G
|
|
|
|
NM_014844.5(TECPR2):c.480+7T>G
|
|
|
|
NM_014844.5(TECPR2):c.480+8del
|
|
|
|
NM_014844.5(TECPR2):c.480G>A (p.Gln160=)
|
|
|
|
NM_014844.5(TECPR2):c.481-10dup
|
|
|
|
NM_014844.5(TECPR2):c.481-13C>T
|
|
|
|
NM_014844.5(TECPR2):c.481-15G>A
|
|
|
|
NM_014844.5(TECPR2):c.481-17C>G
|
|
|
|
NM_014844.5(TECPR2):c.481-17C>T
|
|
|
|
NM_014844.5(TECPR2):c.483G>A (p.Gly161=)
|
rs1192587017
|
|
|
NM_014844.5(TECPR2):c.486C>G (p.Leu162=)
|
rs2139702828
|
|
|
NM_014844.5(TECPR2):c.501G>C (p.Leu167=)
|
|
|
|
NM_014844.5(TECPR2):c.505T>C (p.Leu169=)
|
|
|
|
NM_014844.5(TECPR2):c.51C>G (p.Tyr17Ter)
|
|
|
|
NM_014844.5(TECPR2):c.523A>G (p.Ile175Val)
|
rs914763987
|
|
|
NM_014844.5(TECPR2):c.524T>C (p.Ile175Thr)
|
|
|
|
NM_014844.5(TECPR2):c.531G>T (p.Gln177His)
|
rs1428893711
|
|
|
NM_014844.5(TECPR2):c.540T>C (p.Tyr180=)
|
rs2139702888
|
|
|
NM_014844.5(TECPR2):c.549A>G (p.Lys183=)
|
|
|
|
NM_014844.5(TECPR2):c.555G>T (p.Leu185=)
|
|
|
|
NM_014844.5(TECPR2):c.556C>T (p.Leu186=)
|
rs2139702903
|
|
|
NM_014844.5(TECPR2):c.55CTC[1] (p.Leu20del)
|
rs762675550
|
|
|
NM_014844.5(TECPR2):c.561C>T (p.Val187=)
|
|
|
|
NM_014844.5(TECPR2):c.566C>T (p.Thr189Ile)
|
rs1888974156
|
|
|
NM_014844.5(TECPR2):c.570G>T (p.Leu190=)
|
rs1888974281
|
|
|
NM_014844.5(TECPR2):c.571C>T (p.Gln191Ter)
|
rs1888974364
|
|
|
NM_014844.5(TECPR2):c.57C>T (p.Leu19=)
|
rs760381261
|
|
|
NM_014844.5(TECPR2):c.638+10A>C
|
|
|
|
NM_014844.5(TECPR2):c.639-13C>A
|
|
|
|
NM_014844.5(TECPR2):c.639-20T>C
|
|
|
|
NM_014844.5(TECPR2):c.639-6T>C
|
rs1555450579
|
|
|
NM_014844.5(TECPR2):c.642T>G (p.Thr214=)
|
rs2139715874
|
|
|
NM_014844.5(TECPR2):c.645G>A (p.Gly215=)
|
|
|
|
NM_014844.5(TECPR2):c.645G>C (p.Gly215=)
|
rs1280516450
|
|
|
NM_014844.5(TECPR2):c.675C>A (p.Leu225=)
|
rs2139715937
|
|
|
NM_014844.5(TECPR2):c.675_676del (p.Leu225_Cys226insTer)
|
rs2139715925
|
|
|
NM_014844.5(TECPR2):c.678T>C (p.Cys226=)
|
|
|
|
NM_014844.5(TECPR2):c.681G>A (p.Lys227=)
|
rs2139715954
|
|
|
NM_014844.5(TECPR2):c.684A>G (p.Gln228=)
|
|
|
|
NM_014844.5(TECPR2):c.694dup (p.Thr232fs)
|
rs1889277232
|
|
|
NM_014844.5(TECPR2):c.697T>C (p.Leu233=)
|
|
|
|
NM_014844.5(TECPR2):c.702T>C (p.Tyr234=)
|
|
|
|
NM_014844.5(TECPR2):c.705G>C (p.Ala235=)
|
rs368826416
|
|
|
NM_014844.5(TECPR2):c.705G>T (p.Ala235=)
|
rs368826416
|
|
|
NM_014844.5(TECPR2):c.708A>G (p.Ser236=)
|
rs2139716000
|
|
|
NM_014844.5(TECPR2):c.711G>T (p.Arg237=)
|
|
|
|
NM_014844.5(TECPR2):c.716G>T (p.Gly239Val)
|
|
|
|
NM_014844.5(TECPR2):c.720C>G (p.Leu240=)
|
rs2139716033
|
|
|
NM_014844.5(TECPR2):c.721C>T (p.Arg241Trp)
|
|
|
|
NM_014844.5(TECPR2):c.723G>A (p.Arg241=)
|
rs1394884840
|
|
|
NM_014844.5(TECPR2):c.726A>G (p.Leu242=)
|
rs748794723
|
|
|
NM_014844.5(TECPR2):c.726A>T (p.Leu242=)
|
rs748794723
|
|
|
NM_014844.5(TECPR2):c.728G>A (p.Trp243Ter)
|
rs2139716064
|
|
|
NM_014844.5(TECPR2):c.735T>A (p.Ala245=)
|
rs1448492969
|
|
|
NM_014844.5(TECPR2):c.738T>C (p.Asp246=)
|
|
|
|
NM_014844.5(TECPR2):c.741C>T (p.Val247=)
|
rs551933071
|
|
|
NM_014844.5(TECPR2):c.747G>A (p.Gly249=)
|
|
|
|
NM_014844.5(TECPR2):c.747G>C (p.Gly249=)
|
rs773137265
|
|
|
NM_014844.5(TECPR2):c.750T>C (p.Thr250=)
|
|
|
|
NM_014844.5(TECPR2):c.753T>G (p.Val251=)
|
rs2139716109
|
|
|
NM_014844.5(TECPR2):c.759C>T (p.Ala253=)
|
|
|
|
NM_014844.5(TECPR2):c.762G>T (p.Thr254=)
|
|
|
|
NM_014844.5(TECPR2):c.774del (p.Asp259fs)
|
rs772483312
|
|
|
NM_014844.5(TECPR2):c.783T>G (p.Phe261Leu)
|
|
|
|
NM_014844.5(TECPR2):c.787G>A (p.Gly263Arg)
|
|
|
|
NM_014844.5(TECPR2):c.789G>A (p.Gly263=)
|
|
|
|
NM_014844.5(TECPR2):c.789G>C (p.Gly263=)
|
|
|
|
NM_014844.5(TECPR2):c.795C>T (p.Val265=)
|
|
|
|
NM_014844.5(TECPR2):c.810G>A (p.Leu270=)
|
rs1172065446
|
|
|
NM_014844.5(TECPR2):c.813C>T (p.His271=)
|
rs1889281641
|
|
|
NM_014844.5(TECPR2):c.834C>T (p.Asn278=)
|
rs2139716289
|
|
|
NM_014844.5(TECPR2):c.850T>C (p.Leu284=)
|
|
|
|
NM_014844.5(TECPR2):c.852A>G (p.Leu284=)
|
rs1889283384
|
|
|
NM_014844.5(TECPR2):c.861G>A (p.Arg287=)
|
|
|
|
NM_014844.5(TECPR2):c.865C>T (p.Leu289=)
|
rs1889283815
|
|
|
NM_014844.5(TECPR2):c.870G>T (p.Gly290=)
|
|
|
|
NM_014844.5(TECPR2):c.873T>A (p.Leu291=)
|
|
|
|
NM_014844.5(TECPR2):c.874G>A (p.Val292Ile)
|
|
|
|
NM_014844.5(TECPR2):c.876T>G (p.Val292=)
|
|
|
|
NM_014844.5(TECPR2):c.877del (p.Ser293fs)
|
rs2139716373
|
|
|
NM_014844.5(TECPR2):c.897C>G (p.Gly299=)
|
|
|
|
NM_014844.5(TECPR2):c.90T>G (p.Gly30=)
|
|
|
|
NM_014844.5(TECPR2):c.916G>A (p.Glu306Lys)
|
|
|
|
NM_014844.5(TECPR2):c.937G>C (p.Asp313His)
|
|
|
|
NM_014844.5(TECPR2):c.939C>T (p.Asp313=)
|
rs2139716498
|
|
|
NM_014844.5(TECPR2):c.941_942del (p.Thr314fs)
|
|
|
|
NM_014844.5(TECPR2):c.945C>A (p.Val315=)
|
|
|
|
NM_014844.5(TECPR2):c.945C>G (p.Val315=)
|
|
|
|
NM_014844.5(TECPR2):c.948C>T (p.Asn316=)
|
|
|
|
NM_014844.5(TECPR2):c.949C>T (p.Gln317Ter)
|
|
|
|
NM_014844.5(TECPR2):c.951+12_951+15del
|
|
|
|
NM_014844.5(TECPR2):c.951+14C>T
|
|
|
|
NM_014844.5(TECPR2):c.951+15G>A
|
rs12587242
|
|
|
NM_014844.5(TECPR2):c.951+18A>T
|
|
|
|
NM_014844.5(TECPR2):c.951+1G>C
|
|
|
|
NM_014844.5(TECPR2):c.951+20C>T
|
|
|
|
NM_014844.5(TECPR2):c.951+2T>G
|
|
|
|
NM_014844.5(TECPR2):c.952-12_952-6dup
|
rs565236204
|
|
|
NM_014844.5(TECPR2):c.952-13_952-6del
|
|
|
|
NM_014844.5(TECPR2):c.952-13_952-6dup
|
rs565236204
|
|
|
NM_014844.5(TECPR2):c.952-14T>G
|
|
|
|
NM_014844.5(TECPR2):c.952-15T>G
|
|
|
|
NM_014844.5(TECPR2):c.952-15_952-14insG
|
|
|
|
NM_014844.5(TECPR2):c.952-15_952-6dup
|
rs565236204
|
|
|
NM_014844.5(TECPR2):c.952-16T>G
|
|
|
|
NM_014844.5(TECPR2):c.952-16_952-15insG
|
|
|
|
NM_014844.5(TECPR2):c.952-17T>G
|
|
|
|
NM_014844.5(TECPR2):c.952-17_952-6del
|
|
|
|
NM_014844.5(TECPR2):c.952-18_952-6del
|
|
|
|
NM_014844.5(TECPR2):c.952-19T>G
|
|
|
|
NM_014844.5(TECPR2):c.952-19_952-18insG
|
|
|
|
NM_014844.5(TECPR2):c.952-20_952-19insG
|
|
|
|
NM_014844.5(TECPR2):c.952-28G>T
|
|
|
|
NM_014844.5(TECPR2):c.952-3C>T
|
rs1484530326
|
|
|
NM_014844.5(TECPR2):c.952-4A>G
|
|
|
|
NM_014844.5(TECPR2):c.952-4del
|
|
|
|
NM_014844.5(TECPR2):c.952-5G>T
|
rs55716270
|
|
|
NM_014844.5(TECPR2):c.952-6del
|
|
|
|
NM_014844.5(TECPR2):c.952-6dup
|
rs565236204
|
|
|
NM_014844.5(TECPR2):c.952-7_952-5del
|
|
|
|
NM_014844.5(TECPR2):c.952-7_952-6del
|
rs565236204
|
|
|
NM_014844.5(TECPR2):c.952-7_952-6dup
|
rs565236204
|
|
|
NM_014844.5(TECPR2):c.952-8_952-6del
|
rs565236204
|
|
|
NM_014844.5(TECPR2):c.952-9_952-6del
|
rs565236204
|
|
|
NM_014844.5(TECPR2):c.957A>T (p.Thr319=)
|
rs2139721308
|
|
|
NM_014844.5(TECPR2):c.960T>C (p.Val320=)
|
rs2139721330
|
|
|
NM_014844.5(TECPR2):c.975A>G (p.Gly325=)
|
|
|
|
NM_014844.5(TECPR2):c.976T>C (p.Ser326Pro)
|
rs1889383260
|
|
|
NM_014844.5(TECPR2):c.983_990del (p.Asp328fs)
|
|
|
|
NM_014844.5(TECPR2):c.9G>T (p.Ser3=)
|
rs757589409
|
|
|
NM_014846.4(WASHC5):c.*124A>C
|
rs886062650
|
|
|
NM_014846.4(WASHC5):c.-167C>T
|
rs886062657
|
|
|
NM_014846.4(WASHC5):c.-20A>G
|
rs762683769
|
|
|
NM_014846.4(WASHC5):c.-241G>A
|
rs563795659
|
|
|
NM_014846.4(WASHC5):c.-276G>A
|
rs1224756358
|
|
|
NM_014846.4(WASHC5):c.1005A>G (p.Glu335=)
|
|
|
|
NM_014846.4(WASHC5):c.1024C>T (p.Gln342Ter)
|
|
|
|
NM_014846.4(WASHC5):c.1025A>C (p.Gln342Pro)
|
|
|
|
NM_014846.4(WASHC5):c.1037AAG[1] (p.Glu347del)
|
rs764020658
|
|
|
NM_014846.4(WASHC5):c.1060A>G (p.Met354Val)
|
|
|
|
NM_014846.4(WASHC5):c.1074T>C (p.Asn358=)
|
|
|
|
NM_014846.4(WASHC5):c.1089G>A (p.Leu363=)
|
|
|
|
NM_014846.4(WASHC5):c.1120C>T (p.Arg374Ter)
|
|
|
|
NM_014846.4(WASHC5):c.1121G>A (p.Arg374Gln)
|
|
|
|
NM_014846.4(WASHC5):c.113C>G (p.Ala38Gly)
|
|
|
|
NM_014846.4(WASHC5):c.1140A>G (p.Thr380=)
|
|
|
|
NM_014846.4(WASHC5):c.1151-16C>T
|
|
|
|
NM_014846.4(WASHC5):c.1151-17A>T
|
|
|
|
NM_014846.4(WASHC5):c.1151-2A>G
|
rs1563627853
|
|
|
NM_014846.4(WASHC5):c.1163A>G (p.Asn388Ser)
|
|
|
|
NM_014846.4(WASHC5):c.1166A>G (p.Asn389Ser)
|
|
|
|
NM_014846.4(WASHC5):c.1172G>A (p.Arg391His)
|
|
|
|
NM_014846.4(WASHC5):c.117G>A (p.Val39=)
|
|
|
|
NM_014846.4(WASHC5):c.1188G>C (p.Lys396Asn)
|
|
|
|
NM_014846.4(WASHC5):c.1205A>G (p.Asp402Gly)
|
|
|
|
NM_014846.4(WASHC5):c.1238T>G (p.Leu413Arg)
|
rs1064796966
|
|
|
NM_014846.4(WASHC5):c.1278+13G>T
|
|
|
|
NM_014846.4(WASHC5):c.1278+9A>G
|
|
|
|
NM_014846.4(WASHC5):c.1340C>T (p.Ser447Leu)
|
rs886062654
|
|
|
NM_014846.4(WASHC5):c.1341G>A (p.Ser447=)
|
|
|
|
NM_014846.4(WASHC5):c.1341G>T (p.Ser447=)
|
rs763975296
|
|
|
NM_014846.4(WASHC5):c.1345C>A (p.Arg449=)
|
rs886062653
|
|
|
NM_014846.4(WASHC5):c.1351A>T (p.Thr451Ser)
|
rs377351903
|
|
|
NM_014846.4(WASHC5):c.1368del (p.Ser458fs)
|
|
|
|
NM_014846.4(WASHC5):c.136G>A (p.Ala46Thr)
|
|
|
|
NM_014846.4(WASHC5):c.1378G>T (p.Val460Leu)
|
|
|
|
NM_014846.4(WASHC5):c.1409-8A>C
|
rs878854986
|
|
|
NM_014846.4(WASHC5):c.1411A>G (p.Asn471Asp)
|
rs80338865
|
|
|
NM_014846.4(WASHC5):c.1413C>T (p.Asn471=)
|
|
|
|
NM_014846.4(WASHC5):c.1424G>A (p.Trp475Ter)
|
rs1030054011
|
|
|
NM_014846.4(WASHC5):c.1450T>C (p.Leu484=)
|
|
|
|
NM_014846.4(WASHC5):c.1465G>T (p.Asp489Tyr)
|
rs1816581809
|
|
|
NM_014846.4(WASHC5):c.1473T>C (p.Ser491=)
|
|
|
|
NM_014846.4(WASHC5):c.1474A>C (p.Thr492Pro)
|
rs2130107479
|
|
|
NM_014846.4(WASHC5):c.1481C>T (p.Ala494Val)
|
|
|
|
NM_014846.4(WASHC5):c.1488A>G (p.Arg496=)
|
rs777952872
|
|
|
NM_014846.4(WASHC5):c.1504A>T (p.Ile502Leu)
|
|
|
|
NM_014846.4(WASHC5):c.1510G>A (p.Ala504Thr)
|
|
|
|
NM_014846.4(WASHC5):c.1522-20A>G
|
|
|
|
NM_014846.4(WASHC5):c.1522G>T (p.Val508Phe)
|
|
|
|
NM_014846.4(WASHC5):c.1540T>G (p.Leu514Val)
|
|
|
|
NM_014846.4(WASHC5):c.1543G>C (p.Glu515Gln)
|
|
|
|
NM_014846.4(WASHC5):c.1550A>T (p.Asn517Ile)
|
rs368546546
|
|
|
NM_014846.4(WASHC5):c.1557A>G (p.Gln519=)
|
rs1374104992
|
|
|
NM_014846.4(WASHC5):c.1578T>C (p.Asp526=)
|
rs1340926359
|
|
|
NM_014846.4(WASHC5):c.1580C>T (p.Thr527Ile)
|
|
|
|
NM_014846.4(WASHC5):c.1583G>A (p.Arg528Gln)
|
|
|
|
NM_014846.4(WASHC5):c.1651G>A (p.Val551Ile)
|
|
|
|
NM_014846.4(WASHC5):c.1688+10del
|
rs757113799
|
|
|
NM_014846.4(WASHC5):c.1688+5T>G
|
|
|
|
NM_014846.4(WASHC5):c.1689-19G>A
|
|
|
|
NM_014846.4(WASHC5):c.1705C>G (p.Gln569Glu)
|
rs1816510758
|
|
|
NM_014846.4(WASHC5):c.1747A>G (p.Arg583Gly)
|
rs761801345
|
|
|
NM_014846.4(WASHC5):c.1749A>C (p.Arg583Ser)
|
|
|
|
NM_014846.4(WASHC5):c.1764+14A>G
|
|
|
|
NM_014846.4(WASHC5):c.1765-19T>A
|
|
|
|
NM_014846.4(WASHC5):c.1765-3dup
|
|
|
|
NM_014846.4(WASHC5):c.1771T>C (p.Ser591Pro)
|
rs1554593901
|
|
|
NM_014846.4(WASHC5):c.1772C>T (p.Ser591Phe)
|
rs1554593899
|
|
|
NM_014846.4(WASHC5):c.1788C>G (p.Pro596=)
|
|
|
|
NM_014846.4(WASHC5):c.1850G>T (p.Gly617Val)
|
|
|
|
NM_014846.4(WASHC5):c.1857G>C (p.Leu619Phe)
|
rs80338866
|
|
|
NM_014846.4(WASHC5):c.1857G>T (p.Leu619Phe)
|
rs80338866
|
|
|
NM_014846.4(WASHC5):c.186+14A>C
|
|
|
|
NM_014846.4(WASHC5):c.186+16A>C
|
|
|
|
NM_014846.4(WASHC5):c.186+1G>C
|
|
|
|
NM_014846.4(WASHC5):c.186+3A>G
|
|
|
|
NM_014846.4(WASHC5):c.187-18T>C
|
|
|
|
NM_014846.4(WASHC5):c.187-19_187-18del
|
|
|
|
NM_014846.4(WASHC5):c.187-5C>A
|
|
|
|
NM_014846.4(WASHC5):c.187-6dup
|
rs745362878
|
|
|
NM_014846.4(WASHC5):c.1875+14C>T
|
|
|
|
NM_014846.4(WASHC5):c.1875+3A>C
|
|
|
|
NM_014846.4(WASHC5):c.1876-11T>C
|
|
|
|
NM_014846.4(WASHC5):c.1876G>T (p.Val626Phe)
|
rs80338867
|
|
|
NM_014846.4(WASHC5):c.187G>A (p.Gly63Ser)
|
|
|
|
NM_014846.4(WASHC5):c.1883A>G (p.Gln628Arg)
|
rs1816420898
|
|
|
NM_014846.4(WASHC5):c.1885A>T (p.Ile629Phe)
|
rs1277499447
|
|
|
NM_014846.4(WASHC5):c.1892C>T (p.Pro631Leu)
|
rs1586359734
|
|
|
NM_014846.4(WASHC5):c.1901T>A (p.Met634Lys)
|
rs768146940
|
|
|
NM_014846.4(WASHC5):c.193G>A (p.Glu65Lys)
|
|
|
|
NM_014846.4(WASHC5):c.1941C>T (p.His647=)
|
|
|
|
NM_014846.4(WASHC5):c.1948A>G (p.Ile650Val)
|
rs1188960621
|
|
|
NM_014846.4(WASHC5):c.1956G>T (p.Val652=)
|
|
|
|
NM_014846.4(WASHC5):c.1960A>G (p.Thr654Ala)
|
|
|
|
NM_014846.4(WASHC5):c.1963C>T (p.Arg655Cys)
|
|
|
|
NM_014846.4(WASHC5):c.1966C>G (p.Leu656Val)
|
rs1235925680
|
|
|
NM_014846.4(WASHC5):c.1972A>G (p.Lys658Glu)
|
|
|
|
NM_014846.4(WASHC5):c.1991A>C (p.Tyr664Ser)
|
|
|
|
NM_014846.4(WASHC5):c.2003G>T (p.Gly668Val)
|
rs763639768
|
|
|
NM_014846.4(WASHC5):c.2009G>A (p.Arg670Gln)
|
|
|
|
NM_014846.4(WASHC5):c.2014G>A (p.Glu672Lys)
|
|
|
|
NM_014846.4(WASHC5):c.2016+10C>G
|
rs1260941212
|
|
|
NM_014846.4(WASHC5):c.2016+20T>C
|
|
|
|
NM_014846.4(WASHC5):c.2016+6G>C
|
|
|
|
NM_014846.4(WASHC5):c.2017-16T>A
|
|
|
|
NM_014846.4(WASHC5):c.2017-20C>A
|
rs759179193
|
|
|
NM_014846.4(WASHC5):c.2034T>C (p.His678=)
|
|
|
|
NM_014846.4(WASHC5):c.2042C>A (p.Ser681Tyr)
|
|
|
|
NM_014846.4(WASHC5):c.204A>G (p.Glu68=)
|
|
|
|
NM_014846.4(WASHC5):c.2052T>G (p.Thr684=)
|
rs886062652
|
|
|
NM_014846.4(WASHC5):c.2086G>A (p.Gly696Ser)
|
rs1060502725
|
|
|
NM_014846.4(WASHC5):c.2087G>A (p.Gly696Asp)
|
rs397515564
|
|
|
NM_014846.4(WASHC5):c.2087G>C (p.Gly696Ala)
|
rs397515564
|
|
|
NM_014846.4(WASHC5):c.2090TCA[1] (p.Ile698del)
|
rs1554593551
|
|
|
NM_014846.4(WASHC5):c.2097+3A>G
|
|
|
|
NM_014846.4(WASHC5):c.2097+6A>G
|
|
|
|
NM_014846.4(WASHC5):c.2098-5C>G
|
|
|
|
NM_014846.4(WASHC5):c.2098G>A (p.Val700Met)
|
rs777613204
|
|
|
NM_014846.4(WASHC5):c.2119G>C (p.Glu707Gln)
|
|
|
|
NM_014846.4(WASHC5):c.2137G>A (p.Glu713Lys)
|
rs878854987
|
|
|
NM_014846.4(WASHC5):c.2158T>G (p.Phe720Val)
|
rs1586352875
|
|
|
NM_014846.4(WASHC5):c.2168A>G (p.His723Arg)
|
rs2130055560
|
|
|
NM_014846.4(WASHC5):c.2190T>C (p.Pro730=)
|
rs955321507
|
|
|
NM_014846.4(WASHC5):c.2199+15_2199+16delinsTG
|
|
|
|
NM_014846.4(WASHC5):c.2199+6C>T
|
|
|
|
NM_014846.4(WASHC5):c.2200-18G>A
|
|
|
|
NM_014846.4(WASHC5):c.2238G>T (p.Ala746=)
|
rs376307168
|
|
|
NM_014846.4(WASHC5):c.2255A>G (p.His752Arg)
|
|
|
|
NM_014846.4(WASHC5):c.2258G>A (p.Arg753His)
|
|
|
|
NM_014846.4(WASHC5):c.2273T>C (p.Ile758Thr)
|
|
|
|
NM_014846.4(WASHC5):c.234G>A (p.Gln78=)
|
|
|
|
NM_014846.4(WASHC5):c.2410A>G (p.Thr804Ala)
|
rs1419129064
|
|
|
NM_014846.4(WASHC5):c.2429A>T (p.Lys810Met)
|
rs780468544
|
|
|
NM_014846.4(WASHC5):c.2430G>A (p.Lys810=)
|
rs140742485
|
|
|
NM_014846.4(WASHC5):c.2430G>C (p.Lys810Asn)
|
rs140742485
|
|
|
NM_014846.4(WASHC5):c.2438_2439del (p.Pro813fs)
|
|
|
|
NM_014846.4(WASHC5):c.2468G>A (p.Arg823Gln)
|
|
|
|
NM_014846.4(WASHC5):c.2491A>T (p.Ile831Phe)
|
|
|
|
NM_014846.4(WASHC5):c.2504+5G>A
|
|
|
|
NM_014846.4(WASHC5):c.2506A>G (p.Met836Val)
|
rs2130023977
|
|
|
NM_014846.4(WASHC5):c.2521G>C (p.Asp841His)
|
rs2130023882
|
|
|
NM_014846.4(WASHC5):c.2532C>T (p.Asn844=)
|
rs760598224
|
|
|
NM_014846.4(WASHC5):c.2545A>G (p.Met849Val)
|
rs1355658998
|
|
|
NM_014846.4(WASHC5):c.2562A>G (p.Glu854=)
|
|
|
|
NM_014846.4(WASHC5):c.2566A>G (p.Thr856Ala)
|
|
|
|
NM_014846.4(WASHC5):c.2572A>G (p.Ser858Gly)
|
|
|
|
NM_014846.4(WASHC5):c.2595_2599del (p.Gln865fs)
|
|
|
|
NM_014846.4(WASHC5):c.2635C>A (p.Leu879Ile)
|
|
|
|
NM_014846.4(WASHC5):c.2645T>A (p.Phe882Tyr)
|
rs1815998956
|
|
|
NM_014846.4(WASHC5):c.2647A>G (p.Met883Val)
|
|
|
|
NM_014846.4(WASHC5):c.2654T>C (p.Val885Ala)
|
|
|
|
NM_014846.4(WASHC5):c.265A>G (p.Ile89Val)
|
|
|
|
NM_014846.4(WASHC5):c.2668-18G>A
|
|
|
|
NM_014846.4(WASHC5):c.2671T>G (p.Phe891Val)
|
|
|
|
NM_014846.4(WASHC5):c.26A>G (p.Asn9Ser)
|
|
|
|
NM_014846.4(WASHC5):c.2711C>T (p.Thr904Ile)
|
|
|
|
NM_014846.4(WASHC5):c.2733C>T (p.Thr911=)
|
|
|
|
NM_014846.4(WASHC5):c.2734C>T (p.Leu912Phe)
|
|
|
|
NM_014846.4(WASHC5):c.2770+6T>C
|
rs2130019658
|
|
|
NM_014846.4(WASHC5):c.2771-17A>G
|
|
|
|
NM_014846.4(WASHC5):c.2789A>C (p.Tyr930Ser)
|
rs1815970512
|
|
|
NM_014846.4(WASHC5):c.2794T>A (p.Ser932Thr)
|
|
|
|
NM_014846.4(WASHC5):c.2833C>G (p.Leu945Val)
|
|
|
|
NM_014846.4(WASHC5):c.2836G>A (p.Glu946Lys)
|
|
|
|
NM_014846.4(WASHC5):c.2842A>G (p.Ile948Val)
|
|
|
|
NM_014846.4(WASHC5):c.2849A>G (p.Lys950Arg)
|
rs1815967070
|
|
|
NM_014846.4(WASHC5):c.2851-18del
|
|
|
|
NM_014846.4(WASHC5):c.2860A>T (p.Met954Leu)
|
|
|
|
NM_014846.4(WASHC5):c.2904T>G (p.Ser968=)
|
|
|
|
NM_014846.4(WASHC5):c.2928G>C (p.Leu976=)
|
|
|
|
NM_014846.4(WASHC5):c.292G>T (p.Ala98Ser)
|
|
|
|
NM_014846.4(WASHC5):c.2938C>T (p.Leu980=)
|
|
|
|
NM_014846.4(WASHC5):c.2939T>C (p.Leu980Pro)
|
|
|
|
NM_014846.4(WASHC5):c.2944A>G (p.Asn982Asp)
|
|
|
|
NM_014846.4(WASHC5):c.2949C>T (p.Leu983=)
|
|
|
|
NM_014846.4(WASHC5):c.2950A>G (p.Asn984Asp)
|
|
|
|
NM_014846.4(WASHC5):c.2954+13G>T
|
rs886062651
|
|
|
NM_014846.4(WASHC5):c.2955-6C>G
|
rs1424773576
|
|
|
NM_014846.4(WASHC5):c.2955-7C>T
|
rs767591968
|
|
|
NM_014846.4(WASHC5):c.296T>A (p.Phe99Tyr)
|
|
|
|
NM_014846.4(WASHC5):c.2971A>G (p.Ile991Val)
|
rs1554591077
|
|
|
NM_014846.4(WASHC5):c.2973T>G (p.Ile991Met)
|
|
|
|
NM_014846.4(WASHC5):c.2T>C (p.Met1Thr)
|
|
|
|
NM_014846.4(WASHC5):c.3024_3025del (p.Leu1009fs)
|
rs765926045
|
|
|
NM_014846.4(WASHC5):c.3047A>G (p.Tyr1016Cys)
|
rs767608029
|
|
|
NM_014846.4(WASHC5):c.3065T>C (p.Ile1022Thr)
|
rs150819213
|
|
|
NM_014846.4(WASHC5):c.3084+18A>G
|
|
|
|
NM_014846.4(WASHC5):c.3085-8C>T
|
|
|
|
NM_014846.4(WASHC5):c.3129C>G (p.Asn1043Lys)
|
|
|
|
NM_014846.4(WASHC5):c.3144C>T (p.Ile1048=)
|
|
|
|
NM_014846.4(WASHC5):c.3146C>T (p.Ala1049Val)
|
|
|
|
NM_014846.4(WASHC5):c.3160C>G (p.Leu1054Val)
|
|
|
|
NM_014846.4(WASHC5):c.3163C>T (p.Gln1055Ter)
|
|
|
|
NM_014846.4(WASHC5):c.3165A>G (p.Gln1055=)
|
rs777978845
|
|
|
NM_014846.4(WASHC5):c.3182-16A>G
|
|
|
|
NM_014846.4(WASHC5):c.3182-3C>T
|
|
|
|
NM_014846.4(WASHC5):c.3193C>T (p.Arg1065Ter)
|
|
|
|
NM_014846.4(WASHC5):c.3200C>T (p.Pro1067Leu)
|
rs149383757
|
|
|
NM_014846.4(WASHC5):c.3202A>T (p.Thr1068Ser)
|
rs2129964066
|
|
|
NM_014846.4(WASHC5):c.3205G>A (p.Asp1069Asn)
|
|
|
|
NM_014846.4(WASHC5):c.3207C>A (p.Asp1069Glu)
|
|
|
|
NM_014846.4(WASHC5):c.3209C>T (p.Pro1070Leu)
|
|
|
|
NM_014846.4(WASHC5):c.3210G>T (p.Pro1070=)
|
rs200733182
|
|
|
NM_014846.4(WASHC5):c.3214G>A (p.Asp1072Asn)
|
|
|
|
NM_014846.4(WASHC5):c.3217T>C (p.Trp1073Arg)
|
|
|
|
NM_014846.4(WASHC5):c.332+11A>G
|
rs755037747
|
|
|
NM_014846.4(WASHC5):c.332+4T>C
|
|
|
|
NM_014846.4(WASHC5):c.3328T>C (p.Cys1110Arg)
|
|
|
|
NM_014846.4(WASHC5):c.333-19A>G
|
rs2384916
|
|
|
NM_014846.4(WASHC5):c.333-19A>T
|
|
|
|
NM_014846.4(WASHC5):c.333-20_333-19inv
|
|
|
|
NM_014846.4(WASHC5):c.3335+5A>C
|
rs1815562338
|
|
|
NM_014846.4(WASHC5):c.3335+9G>T
|
|
|
|
NM_014846.4(WASHC5):c.3335G>A (p.Ser1112Asn)
|
rs1324512839
|
|
|
NM_014846.4(WASHC5):c.3375C>T (p.Ala1125=)
|
rs2129947881
|
|
|
NM_014846.4(WASHC5):c.3400C>T (p.Arg1134Trp)
|
|
|
|
NM_014846.4(WASHC5):c.3423+16T>A
|
|
|
|
NM_014846.4(WASHC5):c.3424-19_3424-15del
|
|
|
|
NM_014846.4(WASHC5):c.3424-1G>T
|
rs1815322920
|
|
|
NM_014846.4(WASHC5):c.3438T>C (p.His1146=)
|
rs764539889
|
|
|
NM_014846.4(WASHC5):c.3441G>A (p.Val1147=)
|
rs989931355
|
|
|
NM_014846.4(WASHC5):c.3450C>G (p.Phe1150Leu)
|
|
|
|
NM_014846.4(WASHC5):c.3470C>T (p.Thr1157Ile)
|
rs766201677
|
|
|
NM_014846.4(WASHC5):c.350A>G (p.Asn117Ser)
|
|
|
|
NM_014846.4(WASHC5):c.375C>G (p.Thr125=)
|
|
|
|
NM_014846.4(WASHC5):c.408A>G (p.Lys136=)
|
|
|
|
NM_014846.4(WASHC5):c.413T>G (p.Leu138Arg)
|
rs1563636568
|
|
|
NM_014846.4(WASHC5):c.417+9T>G
|
|
|
|
NM_014846.4(WASHC5):c.420T>G (p.Cys140Trp)
|
|
|
|
NM_014846.4(WASHC5):c.445A>G (p.Met149Val)
|
rs1817270519
|
|
|
NM_014846.4(WASHC5):c.450A>G (p.Leu150=)
|
rs778468473
|
|
|
NM_014846.4(WASHC5):c.498G>A (p.Leu166=)
|
rs1586388281
|
|
|
NM_014846.4(WASHC5):c.50G>C (p.Arg17Thr)
|
|
|
|
NM_014846.4(WASHC5):c.518+13T>C
|
|
|
|
NM_014846.4(WASHC5):c.526C>T (p.Arg176Ter)
|
rs1362286755
|
|
|
NM_014846.4(WASHC5):c.541T>A (p.Ser181Thr)
|
rs1817146560
|
|
|
NM_014846.4(WASHC5):c.572G>A (p.Arg191Gln)
|
rs1586384678
|
|
|
NM_014846.4(WASHC5):c.633T>G (p.Tyr211Ter)
|
|
|
|
NM_014846.4(WASHC5):c.656A>G (p.Glu219Gly)
|
|
|
|
NM_014846.4(WASHC5):c.657A>G (p.Glu219=)
|
rs886062655
|
|
|
NM_014846.4(WASHC5):c.666C>T (p.Ile222=)
|
rs367837906
|
|
|
NM_014846.4(WASHC5):c.672G>T (p.Met224Ile)
|
|
|
|
NM_014846.4(WASHC5):c.683G>A (p.Arg228Gln)
|
|
|
|
NM_014846.4(WASHC5):c.689G>A (p.Arg230Lys)
|
rs1817137048
|
|
|
NM_014846.4(WASHC5):c.704dup (p.Tyr235Ter)
|
rs1563633906
|
|
|
NM_014846.4(WASHC5):c.711+16A>G
|
|
|
|
NM_014846.4(WASHC5):c.711+1G>A
|
|
|
|
NM_014846.4(WASHC5):c.712-13C>G
|
|
|
|
NM_014846.4(WASHC5):c.712-15G>A
|
|
|
|
NM_014846.4(WASHC5):c.712-16C>T
|
|
|
|
NM_014846.4(WASHC5):c.712-7A>G
|
|
|
|
NM_014846.4(WASHC5):c.720G>A (p.Ala240=)
|
rs758215702
|
|
|
NM_014846.4(WASHC5):c.733G>C (p.Glu245Gln)
|
|
|
|
NM_014846.4(WASHC5):c.740G>A (p.Arg247His)
|
|
|
|
NM_014846.4(WASHC5):c.746C>G (p.Thr249Arg)
|
|
|
|
NM_014846.4(WASHC5):c.747A>T (p.Thr249=)
|
|
|
|
NM_014846.4(WASHC5):c.778G>A (p.Val260Met)
|
|
|
|
NM_014846.4(WASHC5):c.786C>T (p.Leu262=)
|
|
|
|
NM_014846.4(WASHC5):c.81T>C (p.Ala27=)
|
|
|
|
NM_014846.4(WASHC5):c.860A>G (p.Asn287Ser)
|
rs1020805660
|
|
|
NM_014846.4(WASHC5):c.864+9T>G
|
|
|
|
NM_014846.4(WASHC5):c.880A>C (p.Met294Leu)
|
rs755946575
|
|
|
NM_014846.4(WASHC5):c.880A>G (p.Met294Val)
|
|
|
|
NM_014846.4(WASHC5):c.884G>A (p.Gly295Glu)
|
|
|
|
NM_014846.4(WASHC5):c.88T>C (p.Leu30=)
|
|
|
|
NM_014846.4(WASHC5):c.913G>T (p.Glu305Ter)
|
rs377540152
|
|
|
NM_014846.4(WASHC5):c.925G>A (p.Ala309Thr)
|
|
|
|
NM_014846.4(WASHC5):c.93A>G (p.Arg31=)
|
rs2130220935
|
|
|
NM_014846.4(WASHC5):c.96C>G (p.Leu32=)
|
rs1060504698
|
|
|
NM_014846.4(WASHC5):c.978+15G>A
|
|
|
|
NM_014846.4(WASHC5):c.978+20C>T
|
|
|
|
NM_014846.4(WASHC5):c.979-6G>A
|
|
|
|
NM_014846.4(WASHC5):c.990T>C (p.Tyr330=)
|
|
|
|
NM_014855.3(AP5Z1):c.*1039G>C
|
rs115180718
|
|
|
NM_014855.3(AP5Z1):c.*1039G>T
|
rs115180718
|
|
|
NM_014855.3(AP5Z1):c.*1094G>A
|
rs140844502
|
|
|
NM_014855.3(AP5Z1):c.*1162C>G
|
rs749324858
|
|
|
NM_014855.3(AP5Z1):c.*1219C>T
|
rs572193795
|
|
|
NM_014855.3(AP5Z1):c.*1260G>A
|
rs1183570786
|
|
|
NM_014855.3(AP5Z1):c.*1266C>T
|
rs886062360
|
|
|
NM_014855.3(AP5Z1):c.*1357T>G
|
rs1359983570
|
|
|
NM_014855.3(AP5Z1):c.*1458C>T
|
rs896431597
|
|
|
NM_014855.3(AP5Z1):c.*1480T>G
|
rs886062361
|
|
|
NM_014855.3(AP5Z1):c.*149C>G
|
rs761922257
|
|
|
NM_014855.3(AP5Z1):c.*149C>T
|
rs761922257
|
|
|
NM_014855.3(AP5Z1):c.*1587G>A
|
rs1781833695
|
|
|
NM_014855.3(AP5Z1):c.*158C>A
|
rs551093436
|
|
|
NM_014855.3(AP5Z1):c.*1679C>T
|
rs1372377816
|
|
|
NM_014855.3(AP5Z1):c.*1701C>G
|
rs80311758
|
|
|
NM_014855.3(AP5Z1):c.*1701C>T
|
rs80311758
|
|
|
NM_014855.3(AP5Z1):c.*1750G>C
|
rs886062362
|
|
|
NM_014855.3(AP5Z1):c.*1794C>T
|
rs186935731
|
|
|
NM_014855.3(AP5Z1):c.*190A>C
|
rs1232009202
|
|
|
NM_014855.3(AP5Z1):c.*19C>T
|
rs1781768718
|
|
|
NM_014855.3(AP5Z1):c.*2004C>T
|
rs143513418
|
|
|
NM_014855.3(AP5Z1):c.*206G>C
|
rs1781776627
|
|
|
NM_014855.3(AP5Z1):c.*2241G>A
|
rs1037534193
|
|
|
NM_014855.3(AP5Z1):c.*2306G>T
|
rs540809527
|
|
|
NM_014855.3(AP5Z1):c.*2363C>T
|
rs530936725
|
|
|
NM_014855.3(AP5Z1):c.*2364G>A
|
rs1054789444
|
|
|
NM_014855.3(AP5Z1):c.*2411C>T
|
rs571859846
|
|
|
NM_014855.3(AP5Z1):c.*2500C>T
|
rs139997541
|
|
|
NM_014855.3(AP5Z1):c.*2574C>T
|
rs886062366
|
|
|
NM_014855.3(AP5Z1):c.*2639G>C
|
rs1205750842
|
|
|
NM_014855.3(AP5Z1):c.*2695T>C
|
rs1309266493
|
|
|
NM_014855.3(AP5Z1):c.*2760G>A
|
rs1781878084
|
|
|
NM_014855.3(AP5Z1):c.*2838A>G
|
rs534373877
|
|
|
NM_014855.3(AP5Z1):c.*527G>A
|
rs758084749
|
|
|
NM_014855.3(AP5Z1):c.*669G>T
|
rs893447235
|
|
|
NM_014855.3(AP5Z1):c.*765C>G
|
rs114829927
|
|
|
NM_014855.3(AP5Z1):c.*765C>T
|
rs114829927
|
|
|
NM_014855.3(AP5Z1):c.*806G>C
|
rs190210301
|
|
|
NM_014855.3(AP5Z1):c.*833C>G
|
rs1329819591
|
|
|
NM_014855.3(AP5Z1):c.*880C>T
|
rs535535946
|
|
|
NM_014855.3(AP5Z1):c.*940T>A
|
rs1219881668
|
|
|
NM_014855.3(AP5Z1):c.*965C>G
|
rs1337568762
|
|
|
NM_014855.3(AP5Z1):c.*971C>G
|
rs529715248
|
|
|
NM_014855.3(AP5Z1):c.*999C>T
|
rs1562417370
|
|
|
NM_014855.3(AP5Z1):c.-26C>T
|
rs1049028734
|
|
|
NM_014855.3(AP5Z1):c.1008C>T (p.Cys336=)
|
|
|
|
NM_014855.3(AP5Z1):c.1015dup (p.Asp339fs)
|
rs1562408333
|
|
|
NM_014855.3(AP5Z1):c.1020G>A (p.Pro340=)
|
|
|
|
NM_014855.3(AP5Z1):c.1020G>T (p.Pro340=)
|
|
|
|
NM_014855.3(AP5Z1):c.1032C>T (p.Tyr344=)
|
rs1188442099
|
|
|
NM_014855.3(AP5Z1):c.1034G>A (p.Arg345Gln)
|
|
|
|
NM_014855.3(AP5Z1):c.1037G>C (p.Ser346Thr)
|
|
|
|
NM_014855.3(AP5Z1):c.1042_1043del (p.Ser348fs)
|
|
|
|
NM_014855.3(AP5Z1):c.1063G>A (p.Gly355Arg)
|
|
|
|
NM_014855.3(AP5Z1):c.1068G>A (p.Arg356=)
|
|
|
|
NM_014855.3(AP5Z1):c.1073_1099del (p.Arg358_Val366del)
|
rs1339701497
|
|
|
NM_014855.3(AP5Z1):c.107A>G (p.Asp36Gly)
|
rs752281685
|
|
|
NM_014855.3(AP5Z1):c.1087T>C (p.Ser363Pro)
|
|
|
|
NM_014855.3(AP5Z1):c.1088C>T (p.Ser363Phe)
|
|
|
|
NM_014855.3(AP5Z1):c.1091T>C (p.Val364Ala)
|
|
|
|
NM_014855.3(AP5Z1):c.1096G>T (p.Val366Leu)
|
|
|
|
NM_014855.3(AP5Z1):c.1101G>A (p.Leu367=)
|
|
|
|
NM_014855.3(AP5Z1):c.1108C>G (p.Leu370Val)
|
|
|
|
NM_014855.3(AP5Z1):c.1111G>A (p.Ala371Thr)
|
rs376671338
|
|
|
NM_014855.3(AP5Z1):c.1117TTC[1] (p.Phe374del)
|
|
|
|
NM_014855.3(AP5Z1):c.1124T>C (p.Leu375Pro)
|
|
|
|
NM_014855.3(AP5Z1):c.1131C>G (p.His377Gln)
|
|
|
|
NM_014855.3(AP5Z1):c.1132+1_1132+3del
|
rs2115114032
|
|
|
NM_014855.3(AP5Z1):c.1133-12C>G
|
|
|
|
NM_014855.3(AP5Z1):c.1133-12C>T
|
|
|
|
NM_014855.3(AP5Z1):c.1133-15dup
|
|
|
|
NM_014855.3(AP5Z1):c.1133-16G>A
|
|
|
|
NM_014855.3(AP5Z1):c.1137A>G (p.Glu379=)
|
|
|
|
NM_014855.3(AP5Z1):c.1144G>A (p.Ala382Thr)
|
rs753529900
|
|
|
NM_014855.3(AP5Z1):c.1161C>T (p.Ala387=)
|
|
|
|
NM_014855.3(AP5Z1):c.1168C>G (p.Gln390Glu)
|
|
|
|
NM_014855.3(AP5Z1):c.1181C>T (p.Thr394Ile)
|
|
|
|
NM_014855.3(AP5Z1):c.1191G>A (p.Pro397=)
|
|
|
|
NM_014855.3(AP5Z1):c.1197_1198delinsAG (p.Gln400Glu)
|
rs1583234434
|
|
|
NM_014855.3(AP5Z1):c.1201T>C (p.Phe401Leu)
|
|
|
|
NM_014855.3(AP5Z1):c.1208G>A (p.Ser403Asn)
|
|
|
|
NM_014855.3(AP5Z1):c.1251C>T (p.Asn417=)
|
|
|
|
NM_014855.3(AP5Z1):c.1260G>A (p.Leu420=)
|
|
|
|
NM_014855.3(AP5Z1):c.1260G>T (p.Leu420=)
|
|
|
|
NM_014855.3(AP5Z1):c.1266C>T (p.Ser422=)
|
|
|
|
NM_014855.3(AP5Z1):c.1281C>A (p.Thr427=)
|
|
|
|
NM_014855.3(AP5Z1):c.1290G>C (p.Leu430Phe)
|
|
|
|
NM_014855.3(AP5Z1):c.1301A>G (p.Asn434Ser)
|
|
|
|
NM_014855.3(AP5Z1):c.1311+11G>A
|
|
|
|
NM_014855.3(AP5Z1):c.1311+17C>G
|
|
|
|
NM_014855.3(AP5Z1):c.1311+7T>G
|
|
|
|
NM_014855.3(AP5Z1):c.1312-9T>G
|
rs964732025
|
|
|
NM_014855.3(AP5Z1):c.1315C>G (p.Leu439Val)
|
rs113014863
|
|
|
NM_014855.3(AP5Z1):c.1315C>T (p.Leu439=)
|
rs113014863
|
|
|
NM_014855.3(AP5Z1):c.1323G>A (p.Trp441Ter)
|
rs1233553130
|
|
|
NM_014855.3(AP5Z1):c.1323del (p.Ala440_Trp441insTer)
|
rs2115118331
|
|
|
NM_014855.3(AP5Z1):c.1343_1346dup (p.Glu449fs)
|
rs1562410566
|
|
|
NM_014855.3(AP5Z1):c.1344C>T (p.Ser448=)
|
|
|
|
NM_014855.3(AP5Z1):c.1345G>A (p.Glu449Lys)
|
|
|
|
NM_014855.3(AP5Z1):c.1349T>C (p.Phe450Ser)
|
|
|
|
NM_014855.3(AP5Z1):c.1353G>T (p.Val451=)
|
|
|
|
NM_014855.3(AP5Z1):c.1357C>G (p.Leu453Val)
|
rs376979127
|
|
|
NM_014855.3(AP5Z1):c.1374G>A (p.Val458=)
|
|
|
|
NM_014855.3(AP5Z1):c.1378G>A (p.Ala460Thr)
|
rs371881628
|
|
|
NM_014855.3(AP5Z1):c.1378G>T (p.Ala460Ser)
|
|
|
|
NM_014855.3(AP5Z1):c.1385C>T (p.Thr462Ile)
|
|
|
|
NM_014855.3(AP5Z1):c.1391T>C (p.Leu464Pro)
|
|
|
|
NM_014855.3(AP5Z1):c.1403A>G (p.His468Arg)
|
|
|
|
NM_014855.3(AP5Z1):c.1404C>T (p.His468=)
|
|
|
|
NM_014855.3(AP5Z1):c.1413_1426del (p.Leu473fs)
|
rs397704709
|
|
|
NM_014855.3(AP5Z1):c.1424G>A (p.Cys475Tyr)
|
|
|
|
NM_014855.3(AP5Z1):c.1433C>T (p.Ala478Val)
|
|
|
|
NM_014855.3(AP5Z1):c.1454+5G>T
|
rs1583236514
|
|
|
NM_014855.3(AP5Z1):c.1454+6C>T
|
|
|
|
NM_014855.3(AP5Z1):c.1455-14G>A
|
|
|
|
NM_014855.3(AP5Z1):c.1455-15C>T
|
|
|
|
NM_014855.3(AP5Z1):c.1455-18G>A
|
|
|
|
NM_014855.3(AP5Z1):c.1455-4G>A
|
rs539344057
|
|
|
NM_014855.3(AP5Z1):c.1455-5C>T
|
|
|
|
NM_014855.3(AP5Z1):c.1455-7_1455-5dup
|
|
|
|
NM_014855.3(AP5Z1):c.1473C>T (p.Ser491=)
|
|
|
|
NM_014855.3(AP5Z1):c.1474G>C (p.Glu492Gln)
|
|
|
|
NM_014855.3(AP5Z1):c.1498C>T (p.Leu500Phe)
|
|
|
|
NM_014855.3(AP5Z1):c.1499_1500del (p.Leu500fs)
|
|
|
|
NM_014855.3(AP5Z1):c.1505C>T (p.Ala502Val)
|
|
|
|
NM_014855.3(AP5Z1):c.1506C>A (p.Ala502=)
|
|
|
|
NM_014855.3(AP5Z1):c.1509_1595+26del
|
|
|
|
NM_014855.3(AP5Z1):c.1521G>C (p.Glu507Asp)
|
rs771555660
|
|
|
NM_014855.3(AP5Z1):c.1523C>G (p.Ala508Gly)
|
rs370879999
|
|
|
NM_014855.3(AP5Z1):c.1524C>A (p.Ala508=)
|
|
|
|
NM_014855.3(AP5Z1):c.1530G>C (p.Arg510=)
|
rs2115120162
|
|
|
NM_014855.3(AP5Z1):c.1531G>T (p.Asp511Tyr)
|
rs1781620399
|
|
|
NM_014855.3(AP5Z1):c.1534C>G (p.Pro512Ala)
|
|
|
|
NM_014855.3(AP5Z1):c.1535C>T (p.Pro512Leu)
|
|
|
|
NM_014855.3(AP5Z1):c.1536G>T (p.Pro512=)
|
rs757364334
|
|
|
NM_014855.3(AP5Z1):c.1566G>A (p.Leu522=)
|
|
|
|
NM_014855.3(AP5Z1):c.1569C>T (p.Arg523=)
|
|
|
|
NM_014855.3(AP5Z1):c.1573A>C (p.Lys525Gln)
|
rs186003800
|
|
|
NM_014855.3(AP5Z1):c.1585G>A (p.Ala529Thr)
|
rs535174478
|
|
|
NM_014855.3(AP5Z1):c.1589C>G (p.Thr530Ser)
|
|
|
|
NM_014855.3(AP5Z1):c.158C>T (p.Ser53Leu)
|
|
|
|
NM_014855.3(AP5Z1):c.1595+10C>T
|
|
|
|
NM_014855.3(AP5Z1):c.1595+15G>A
|
|
|
|
NM_014855.3(AP5Z1):c.1595+17C>A
|
|
|
|
NM_014855.3(AP5Z1):c.1595+5G>A
|
|
|
|
NM_014855.3(AP5Z1):c.1595+8G>A
|
|
|
|
NM_014855.3(AP5Z1):c.1595+8del
|
rs2115120465
|
|
|
NM_014855.3(AP5Z1):c.1596-12_1596-11del
|
|
|
|
NM_014855.3(AP5Z1):c.1596-19G>A
|
|
|
|
NM_014855.3(AP5Z1):c.1596-20C>A
|
|
|
|
NM_014855.3(AP5Z1):c.1596-20C>T
|
|
|
|
NM_014855.3(AP5Z1):c.1596-3C>G
|
rs2115122331
|
|
|
NM_014855.3(AP5Z1):c.1596-3C>T
|
|
|
|
NM_014855.3(AP5Z1):c.1596-5C>T
|
|
|
|
NM_014855.3(AP5Z1):c.1606C>T (p.Leu536Phe)
|
|
|
|
NM_014855.3(AP5Z1):c.1632C>T (p.Ala544=)
|
|
|
|
NM_014855.3(AP5Z1):c.1635C>G (p.Gly545=)
|
|
|
|
NM_014855.3(AP5Z1):c.1635C>T (p.Gly545=)
|
|
|
|
NM_014855.3(AP5Z1):c.1643G>A (p.Arg548His)
|
rs200224845
|
|
|
NM_014855.3(AP5Z1):c.1643G>T (p.Arg548Leu)
|
|
|
|
NM_014855.3(AP5Z1):c.1650C>G (p.Ala550=)
|
|
|
|
NM_014855.3(AP5Z1):c.1661A>C (p.Gln554Pro)
|
|
|
|
NM_014855.3(AP5Z1):c.1665C>G (p.Ala555=)
|
rs761290075
|
|
|
NM_014855.3(AP5Z1):c.1673C>T (p.Thr558Met)
|
|
|
|
NM_014855.3(AP5Z1):c.1674G>A (p.Thr558=)
|
|
|
|
NM_014855.3(AP5Z1):c.1674G>T (p.Thr558=)
|
rs374928584
|
|
|
NM_014855.3(AP5Z1):c.1686A>G (p.Ala562=)
|
|
|
|
NM_014855.3(AP5Z1):c.1689C>A (p.Phe563Leu)
|
rs757247884
|
|
|
NM_014855.3(AP5Z1):c.1707+11_1707+12delinsCC
|
|
|
|
NM_014855.3(AP5Z1):c.1707+16G>A
|
|
|
|
NM_014855.3(AP5Z1):c.1707+1G>A
|
|
|
|
NM_014855.3(AP5Z1):c.1707+25dup
|
rs529746844
|
|
|
NM_014855.3(AP5Z1):c.1707+5G>A
|
|
|
|
NM_014855.3(AP5Z1):c.1708-18C>T
|
|
|
|
NM_014855.3(AP5Z1):c.1708-19T>G
|
|
|
|
NM_014855.3(AP5Z1):c.1708-3dup
|
|
|
|
NM_014855.3(AP5Z1):c.1708-6C>T
|
|
|
|
NM_014855.3(AP5Z1):c.1719del (p.Ser574fs)
|
rs1562413480
|
|
|
NM_014855.3(AP5Z1):c.1728C>A (p.Ile576=)
|
rs550686881
|
|
|
NM_014855.3(AP5Z1):c.1730_1733del (p.Asn577fs)
|
rs1189027155
|
|
|
NM_014855.3(AP5Z1):c.1732C>T (p.Gln578Ter)
|
rs1057519342
|
|
|
NM_014855.3(AP5Z1):c.1740G>A (p.Ala580=)
|
rs773950276
|
|
|
NM_014855.3(AP5Z1):c.1740G>T (p.Ala580=)
|
rs773950276
|
|
|
NM_014855.3(AP5Z1):c.1741C>T (p.Leu581=)
|
|
|
|
NM_014855.3(AP5Z1):c.1766C>G (p.Ser589Trp)
|
|
|
|
NM_014855.3(AP5Z1):c.1767G>A (p.Ser589=)
|
rs369091114
|
|
|
NM_014855.3(AP5Z1):c.1767G>C (p.Ser589=)
|
rs369091114
|
|
|
NM_014855.3(AP5Z1):c.1767G>T (p.Ser589=)
|
rs369091114
|
|
|
NM_014855.3(AP5Z1):c.1768C>T (p.Leu590Phe)
|
|
|
|
NM_014855.3(AP5Z1):c.1776G>A (p.Pro592=)
|
|
|
|
NM_014855.3(AP5Z1):c.179+1G>T
|
rs1186699852
|
|
|
NM_014855.3(AP5Z1):c.179+3G>A
|
|
|
|
NM_014855.3(AP5Z1):c.1794C>A (p.Ala598=)
|
|
|
|
NM_014855.3(AP5Z1):c.1794C>G (p.Ala598=)
|
rs374673921
|
|
|
NM_014855.3(AP5Z1):c.1794C>T (p.Ala598=)
|
rs374673921
|
|
|
NM_014855.3(AP5Z1):c.180-16G>A
|
|
|
|
NM_014855.3(AP5Z1):c.180-19C>T
|
|
|
|
NM_014855.3(AP5Z1):c.180-3C>T
|
|
|
|
NM_014855.3(AP5Z1):c.1803C>G (p.His601Gln)
|
rs1562413667
|
|
|
NM_014855.3(AP5Z1):c.1805+11C>T
|
|
|
|
NM_014855.3(AP5Z1):c.1805+13T>C
|
|
|
|
NM_014855.3(AP5Z1):c.1805+16G>A
|
|
|
|
NM_014855.3(AP5Z1):c.1805+20C>G
|
|
|
|
NM_014855.3(AP5Z1):c.1805+7C>T
|
|
|
|
NM_014855.3(AP5Z1):c.1805+8C>G
|
|
|
|
NM_014855.3(AP5Z1):c.1806-12C>G
|
|
|
|
NM_014855.3(AP5Z1):c.1806-12C>T
|
rs78959612
|
|
|
NM_014855.3(AP5Z1):c.1806-1G>C
|
|
|
|
NM_014855.3(AP5Z1):c.1806-6_1818del
|
|
|
|
NM_014855.3(AP5Z1):c.1839G>T (p.Thr613=)
|
|
|
|
NM_014855.3(AP5Z1):c.1846C>A (p.Pro616Thr)
|
rs1781727346
|
|
|
NM_014855.3(AP5Z1):c.1850C>G (p.Ser617Cys)
|
rs1583241907
|
|
|
NM_014855.3(AP5Z1):c.1850C>T (p.Ser617Phe)
|
rs1583241907
|
|
|
NM_014855.3(AP5Z1):c.1854G>C (p.Leu618=)
|
rs1000978059
|
|
|
NM_014855.3(AP5Z1):c.1866G>T (p.Leu622=)
|
|
|
|
NM_014855.3(AP5Z1):c.1872A>G (p.Arg624=)
|
|
|
|
NM_014855.3(AP5Z1):c.1873G>A (p.Asp625Asn)
|
rs1781728649
|
|
|
NM_014855.3(AP5Z1):c.1879C>T (p.Leu627=)
|
|
|
|
NM_014855.3(AP5Z1):c.1890G>A (p.Leu630=)
|
|
|
|
NM_014855.3(AP5Z1):c.1893C>T (p.Gly631=)
|
|
|
|
NM_014855.3(AP5Z1):c.1896C>T (p.Ser632=)
|
|
|
|
NM_014855.3(AP5Z1):c.1897G>A (p.Val633Met)
|
|
|
|
NM_014855.3(AP5Z1):c.1906C>G (p.Leu636Val)
|
rs867457810
|
|
|
NM_014855.3(AP5Z1):c.1920G>A (p.Ala640=)
|
rs369767394
|
|
|
NM_014855.3(AP5Z1):c.1920G>C (p.Ala640=)
|
|
|
|
NM_014855.3(AP5Z1):c.1920G>T (p.Ala640=)
|
|
|
|
NM_014855.3(AP5Z1):c.1923C>G (p.Ser641Arg)
|
rs773754717
|
|
|
NM_014855.3(AP5Z1):c.1923C>T (p.Ser641=)
|
rs773754717
|
|
|
NM_014855.3(AP5Z1):c.1926C>T (p.Leu642=)
|
|
|
|
NM_014855.3(AP5Z1):c.1938+12G>A
|
|
|
|
NM_014855.3(AP5Z1):c.1938+18C>T
|
|
|
|
NM_014855.3(AP5Z1):c.1938+8G>A
|
|
|
|
NM_014855.3(AP5Z1):c.1938+9G>C
|
|
|
|
NM_014855.3(AP5Z1):c.1939-11C>A
|
rs377395124
|
|
|
NM_014855.3(AP5Z1):c.1939-11C>T
|
|
|
|
NM_014855.3(AP5Z1):c.1939-16_1939-15del
|
|
|
|
NM_014855.3(AP5Z1):c.1939-1G>A
|
rs2115128968
|
|
|
NM_014855.3(AP5Z1):c.1939-5C>T
|
|
|
|
NM_014855.3(AP5Z1):c.1939-6del
|
|
|
|
NM_014855.3(AP5Z1):c.1950C>T (p.Ile650=)
|
|
|
|
NM_014855.3(AP5Z1):c.1954G>T (p.Glu652Ter)
|
|
|
|
NM_014855.3(AP5Z1):c.1955A>G (p.Glu652Gly)
|
|
|
|
NM_014855.3(AP5Z1):c.195C>G (p.Cys65Trp)
|
rs376335137
|
|
|
NM_014855.3(AP5Z1):c.1965G>C (p.Ser655=)
|
rs543467648
|
|
|
NM_014855.3(AP5Z1):c.196G>A (p.Val66Ile)
|
|
|
|
NM_014855.3(AP5Z1):c.1975G>T (p.Asp659Tyr)
|
|
|
|
NM_014855.3(AP5Z1):c.1990G>A (p.Val664Met)
|
|
|
|
NM_014855.3(AP5Z1):c.2001CAA[1] (p.Asn668del)
|
rs768558699
|
|
|
NM_014855.3(AP5Z1):c.200A>T (p.Asp67Val)
|
|
|
|
NM_014855.3(AP5Z1):c.2010C>T (p.Phe670=)
|
|
|
|
NM_014855.3(AP5Z1):c.2016A>G (p.Glu672=)
|
|
|
|
NM_014855.3(AP5Z1):c.2025G>A (p.Glu675=)
|
rs758146937
|
|
|
NM_014855.3(AP5Z1):c.2033T>A (p.Leu678Gln)
|
|
|
|
NM_014855.3(AP5Z1):c.2037C>G (p.Phe679Leu)
|
|
|
|
NM_014855.3(AP5Z1):c.2043C>T (p.Val681=)
|
|
|
|
NM_014855.3(AP5Z1):c.2047C>A (p.Gln683Lys)
|
rs886062354
|
|
|
NM_014855.3(AP5Z1):c.2049G>A (p.Gln683=)
|
|
|
|
NM_014855.3(AP5Z1):c.2061T>C (p.Ser687=)
|
|
|
|
NM_014855.3(AP5Z1):c.2079_2091del (p.Cys693fs)
|
|
|
|
NM_014855.3(AP5Z1):c.2079_2100del (p.Cys693_Pro694insTer)
|
rs2115129514
|
|
|
NM_014855.3(AP5Z1):c.2079del (p.Gln696fs)
|
|
|
|
NM_014855.3(AP5Z1):c.2079dup (p.Pro694fs)
|
|
|
|
NM_014855.3(AP5Z1):c.2085C>T (p.Pro695=)
|
rs746736951
|
|
|
NM_014855.3(AP5Z1):c.2086dup (p.Gln696fs)
|
rs771683676
|
|
|
NM_014855.3(AP5Z1):c.2088G>A (p.Gln696=)
|
|
|
|
NM_014855.3(AP5Z1):c.2097C>T (p.Thr699=)
|
|
|
|
NM_014855.3(AP5Z1):c.209A>T (p.Gln70Leu)
|
rs2115103040
|
|
|
NM_014855.3(AP5Z1):c.2102T>C (p.Leu701Pro)
|
rs1317738698
|
|
|
NM_014855.3(AP5Z1):c.2105T>C (p.Met702Thr)
|
|
|
|
NM_014855.3(AP5Z1):c.2105_2116dup (p.Met702_Leu705dup)
|
rs746548308
|
|
|
NM_014855.3(AP5Z1):c.210_231del (p.Gln70fs)
|
rs1562404571
|
|
|
NM_014855.3(AP5Z1):c.2111C>T (p.Thr704Met)
|
|
|
|
NM_014855.3(AP5Z1):c.2112G>A (p.Thr704=)
|
rs765844025
|
|
|
NM_014855.3(AP5Z1):c.2117C>G (p.Thr706Arg)
|
rs752688603
|
|
|
NM_014855.3(AP5Z1):c.2117C>T (p.Thr706Met)
|
|
|
|
NM_014855.3(AP5Z1):c.2122C>A (p.Leu708Met)
|
|
|
|
NM_014855.3(AP5Z1):c.2130C>A (p.Ser710=)
|
|
|
|
NM_014855.3(AP5Z1):c.2130C>T (p.Ser710=)
|
|
|
|
NM_014855.3(AP5Z1):c.2131C>T (p.Arg711Trp)
|
rs113184057
|
|
|
NM_014855.3(AP5Z1):c.2142T>G (p.Asp714Glu)
|
rs1781744978
|
|
|
NM_014855.3(AP5Z1):c.2145G>A (p.Leu715=)
|
|
|
|
NM_014855.3(AP5Z1):c.2145G>T (p.Leu715=)
|
|
|
|
NM_014855.3(AP5Z1):c.2151C>T (p.Pro717=)
|
rs1781745482
|
|
|
NM_014855.3(AP5Z1):c.2153+13G>A
|
|
|
|
NM_014855.3(AP5Z1):c.2153+8G>A
|
rs189564026
|
|
|
NM_014855.3(AP5Z1):c.2153+8G>C
|
rs189564026
|
|
|
NM_014855.3(AP5Z1):c.2154-15A>T
|
|
|
|
NM_014855.3(AP5Z1):c.2154-16G>A
|
|
|
|
NM_014855.3(AP5Z1):c.2154-16G>C
|
rs1562415433
|
|
|
NM_014855.3(AP5Z1):c.2154-18G>A
|
|
|
|
NM_014855.3(AP5Z1):c.2154-5C>T
|
|
|
|
NM_014855.3(AP5Z1):c.2155G>A (p.Ala719Thr)
|
rs780512257
|
|
|
NM_014855.3(AP5Z1):c.2174A>G (p.Lys725Arg)
|
rs1781756221
|
|
|
NM_014855.3(AP5Z1):c.2184C>T (p.Thr728=)
|
|
|
|
NM_014855.3(AP5Z1):c.2185del (p.Leu729fs)
|
rs1326802596
|
|
|
NM_014855.3(AP5Z1):c.2196T>C (p.Ser732=)
|
rs1472223606
|
|
|
NM_014855.3(AP5Z1):c.2198C>T (p.Pro733Leu)
|
|
|
|
NM_014855.3(AP5Z1):c.2199A>T (p.Pro733=)
|
|
|
|
NM_014855.3(AP5Z1):c.2202C>A (p.Ala734=)
|
|
|
|
NM_014855.3(AP5Z1):c.2206A>G (p.Ser736Gly)
|
rs1562415549
|
|
|
NM_014855.3(AP5Z1):c.2209_2220del (p.Ser737_Ser740del)
|
rs139155501
|
|
|
NM_014855.3(AP5Z1):c.2213C>T (p.Thr738Met)
|
rs1781757996
|
|
|
NM_014855.3(AP5Z1):c.2214G>A (p.Thr738=)
|
|
|
|
NM_014855.3(AP5Z1):c.2220C>T (p.Ser740=)
|
|
|
|
NM_014855.3(AP5Z1):c.2221G>C (p.Glu741Gln)
|
|
|
|
NM_014855.3(AP5Z1):c.2222AGG[1] (p.Glu742del)
|
|
|
|
NM_014855.3(AP5Z1):c.2239A>C (p.Ile747Leu)
|
|
|
|
NM_014855.3(AP5Z1):c.2241C>G (p.Ile747Met)
|
|
|
|
NM_014855.3(AP5Z1):c.2243G>A (p.Arg748His)
|
|
|
|
NM_014855.3(AP5Z1):c.2248C>T (p.Arg750Trp)
|
rs376075136
|
|
|
NM_014855.3(AP5Z1):c.2253C>T (p.Ala751=)
|
|
|
|
NM_014855.3(AP5Z1):c.2268C>T (p.Thr756=)
|
|
|
|
NM_014855.3(AP5Z1):c.2281C>G (p.Pro761Ala)
|
rs768616888
|
|
|
NM_014855.3(AP5Z1):c.2283T>G (p.Pro761=)
|
|
|
|
NM_014855.3(AP5Z1):c.22A>C (p.Ser8Arg)
|
rs1583222163
|
|
|
NM_014855.3(AP5Z1):c.2301G>A (p.Val767=)
|
|
|
|
NM_014855.3(AP5Z1):c.2305A>G (p.Thr769Ala)
|
rs188569082
|
|
|
NM_014855.3(AP5Z1):c.2312G>A (p.Ser771Asn)
|
|
|
|
NM_014855.3(AP5Z1):c.2328C>A (p.Ser776Arg)
|
rs192794637
|
|
|
NM_014855.3(AP5Z1):c.2339A>C (p.His780Pro)
|
rs763182775
|
|
|
NM_014855.3(AP5Z1):c.2355G>A (p.Thr785=)
|
|
|
|
NM_014855.3(AP5Z1):c.2361G>A (p.Leu787=)
|
rs878854988
|
|
|
NM_014855.3(AP5Z1):c.2363C>G (p.Pro788Arg)
|
rs893581542
|
|
|
NM_014855.3(AP5Z1):c.2363_2374del (p.Pro788_Leu791del)
|
rs759647835
|
|
|
NM_014855.3(AP5Z1):c.2368_2373del (p.Ala790_Leu791del)
|
|
|
|
NM_014855.3(AP5Z1):c.2374C>T (p.Arg792Cys)
|
|
|
|
NM_014855.3(AP5Z1):c.2379G>A (p.Thr793=)
|
|
|
|
NM_014855.3(AP5Z1):c.2379G>C (p.Thr793=)
|
rs77393809
|
|
|
NM_014855.3(AP5Z1):c.238G>A (p.Glu80Lys)
|
rs199577559
|
|
|
NM_014855.3(AP5Z1):c.2391G>A (p.Leu797=)
|
|
|
|
NM_014855.3(AP5Z1):c.2394G>A (p.Val798=)
|
|
|
|
NM_014855.3(AP5Z1):c.2394G>T (p.Val798=)
|
|
|
|
NM_014855.3(AP5Z1):c.2396A>G (p.Glu799Gly)
|
|
|
|
NM_014855.3(AP5Z1):c.2406C>T (p.Ala802=)
|
|
|
|
NM_014855.3(AP5Z1):c.262G>A (p.Ala88Thr)
|
|
|
|
NM_014855.3(AP5Z1):c.282C>T (p.Ser94=)
|
|
|
|
NM_014855.3(AP5Z1):c.283C>T (p.Pro95Ser)
|
|
|
|
NM_014855.3(AP5Z1):c.295del (p.Leu99fs)
|
rs2115103191
|
|
|
NM_014855.3(AP5Z1):c.302T>C (p.Leu101Pro)
|
rs1781386835
|
|
|
NM_014855.3(AP5Z1):c.317C>T (p.Thr106Met)
|
|
|
|
NM_014855.3(AP5Z1):c.318G>C (p.Thr106=)
|
|
|
|
NM_014855.3(AP5Z1):c.324C>T (p.Asn108=)
|
rs1307463422
|
|
|
NM_014855.3(AP5Z1):c.355_358dup (p.Leu120fs)
|
rs1554257381
|
|
|
NM_014855.3(AP5Z1):c.357C>G (p.Leu119=)
|
|
|
|
NM_014855.3(AP5Z1):c.361G>A (p.Ala121Thr)
|
rs1181668776
|
|
|
NM_014855.3(AP5Z1):c.362C>T (p.Ala121Val)
|
|
|
|
NM_014855.3(AP5Z1):c.366+19C>T
|
|
|
|
NM_014855.3(AP5Z1):c.378C>T (p.Asn126=)
|
rs775332430
|
|
|
NM_014855.3(AP5Z1):c.379G>C (p.Glu127Gln)
|
rs115454162
|
|
|
NM_014855.3(AP5Z1):c.383A>T (p.Glu128Val)
|
rs1781435214
|
|
|
NM_014855.3(AP5Z1):c.41+15C>T
|
|
|
|
NM_014855.3(AP5Z1):c.41+18C>A
|
|
|
|
NM_014855.3(AP5Z1):c.41+19C>T
|
|
|
|
NM_014855.3(AP5Z1):c.41+5G>T
|
|
|
|
NM_014855.3(AP5Z1):c.41+812_970del
|
|
|
|
NM_014855.3(AP5Z1):c.41+8_41+9del
|
|
|
|
NM_014855.3(AP5Z1):c.41+9G>A
|
|
|
|
NM_014855.3(AP5Z1):c.416C>T (p.Ala139Val)
|
|
|
|
NM_014855.3(AP5Z1):c.420G>A (p.Leu140=)
|
|
|
|
NM_014855.3(AP5Z1):c.438G>A (p.Glu146=)
|
|
|
|
NM_014855.3(AP5Z1):c.465C>T (p.Pro155=)
|
rs758859483
|
|
|
NM_014855.3(AP5Z1):c.466G>A (p.Val156Ile)
|
|
|
|
NM_014855.3(AP5Z1):c.480C>T (p.Val160=)
|
|
|
|
NM_014855.3(AP5Z1):c.487C>T (p.Leu163Phe)
|
|
|
|
NM_014855.3(AP5Z1):c.495G>A (p.Pro165=)
|
|
|
|
NM_014855.3(AP5Z1):c.498_511+9del
|
|
|
|
NM_014855.3(AP5Z1):c.500C>T (p.Thr167Ile)
|
|
|
|
NM_014855.3(AP5Z1):c.502del (p.Leu168fs)
|
|
|
|
NM_014855.3(AP5Z1):c.505C>T (p.Gln169Ter)
|
|
|
|
NM_014855.3(AP5Z1):c.511+5G>A
|
rs759729051
|
|
|
NM_014855.3(AP5Z1):c.511+8G>A
|
|
|
|
NM_014855.3(AP5Z1):c.511+9G>T
|
|
|
|
NM_014855.3(AP5Z1):c.512-13C>T
|
|
|
|
NM_014855.3(AP5Z1):c.526C>G (p.Leu176Val)
|
|
|
|
NM_014855.3(AP5Z1):c.529A>G (p.Ser177Gly)
|
rs1781449646
|
|
|
NM_014855.3(AP5Z1):c.546C>T (p.Asp182=)
|
|
|
|
NM_014855.3(AP5Z1):c.559G>A (p.Ala187Thr)
|
|
|
|
NM_014855.3(AP5Z1):c.57G>T (p.Glu19Asp)
|
rs752031110
|
|
|
NM_014855.3(AP5Z1):c.585C>G (p.His195Gln)
|
rs886062350
|
|
|
NM_014855.3(AP5Z1):c.596T>G (p.Phe199Cys)
|
|
|
|
NM_014855.3(AP5Z1):c.596TCT[1] (p.Phe200del)
|
rs759357796
|
|
|
NM_014855.3(AP5Z1):c.612G>A (p.Arg204=)
|
|
|
|
NM_014855.3(AP5Z1):c.615C>T (p.Ala205=)
|
|
|
|
NM_014855.3(AP5Z1):c.621+11G>T
|
|
|
|
NM_014855.3(AP5Z1):c.621+18C>G
|
|
|
|
NM_014855.3(AP5Z1):c.622-7C>T
|
rs1332740790
|
|
|
NM_014855.3(AP5Z1):c.628C>A (p.Pro210Thr)
|
rs773542837
|
|
|
NM_014855.3(AP5Z1):c.62T>G (p.Leu21Arg)
|
|
|
|
NM_014855.3(AP5Z1):c.630C>G (p.Pro210=)
|
|
|
|
NM_014855.3(AP5Z1):c.630C>T (p.Pro210=)
|
|
|
|
NM_014855.3(AP5Z1):c.636C>G (p.Thr212=)
|
|
|
|
NM_014855.3(AP5Z1):c.652G>T (p.Val218Leu)
|
|
|
|
NM_014855.3(AP5Z1):c.670dup (p.Thr224fs)
|
|
|
|
NM_014855.3(AP5Z1):c.67A>T (p.Lys23Ter)
|
|
|
|
NM_014855.3(AP5Z1):c.682A>G (p.Ser228Gly)
|
|
|
|
NM_014855.3(AP5Z1):c.685G>A (p.Gly229Ser)
|
|
|
|
NM_014855.3(AP5Z1):c.696C>A (p.Phe232Leu)
|
rs1361563941
|
|
|
NM_014855.3(AP5Z1):c.699A>G (p.Thr233=)
|
rs761636459
|
|
|
NM_014855.3(AP5Z1):c.701A>T (p.Asp234Val)
|
rs767413099
|
|
|
NM_014855.3(AP5Z1):c.703G>A (p.Asp235Asn)
|
|
|
|
NM_014855.3(AP5Z1):c.704del (p.Asp235fs)
|
|
|
|
NM_014855.3(AP5Z1):c.706C>T (p.Gln236Ter)
|
rs988434253
|
|
|
NM_014855.3(AP5Z1):c.715A>T (p.Asn239Tyr)
|
rs1781470617
|
|
|
NM_014855.3(AP5Z1):c.717C>T (p.Asn239=)
|
|
|
|
NM_014855.3(AP5Z1):c.724G>C (p.Ala242Pro)
|
rs886062351
|
|
|
NM_014855.3(AP5Z1):c.725C>T (p.Ala242Val)
|
rs781388706
|
|
|
NM_014855.3(AP5Z1):c.731C>G (p.Ser244Cys)
|
|
|
|
NM_014855.3(AP5Z1):c.732T>C (p.Ser244=)
|
|
|
|
NM_014855.3(AP5Z1):c.739C>T (p.Arg247Trp)
|
rs768288736
|
|
|
NM_014855.3(AP5Z1):c.740G>A (p.Arg247Gln)
|
rs774068163
|
|
|
NM_014855.3(AP5Z1):c.760G>T (p.Gly254Cys)
|
rs772318205
|
|
|
NM_014855.3(AP5Z1):c.766G>C (p.Glu256Gln)
|
|
|
|
NM_014855.3(AP5Z1):c.775G>A (p.Gly259Ser)
|
|
|
|
NM_014855.3(AP5Z1):c.790+10G>A
|
rs2115109800
|
|
|
NM_014855.3(AP5Z1):c.790+15G>A
|
rs886062352
|
|
|
NM_014855.3(AP5Z1):c.791-3C>T
|
rs1480152137
|
|
|
NM_014855.3(AP5Z1):c.791-5C>G
|
|
|
|
NM_014855.3(AP5Z1):c.791-6C>T
|
|
|
|
NM_014855.3(AP5Z1):c.80G>A (p.Arg27Gln)
|
rs768361738
|
|
|
NM_014855.3(AP5Z1):c.80_83delinsTGCTGTAAACTGTAACTGTAAA (p.Arg27_Ile28delinsLeuLeuTer)
|
rs397704705
|
|
|
NM_014855.3(AP5Z1):c.815C>G (p.Ser272Cys)
|
rs745607941
|
|
|
NM_014855.3(AP5Z1):c.816C>T (p.Ser272=)
|
|
|
|
NM_014855.3(AP5Z1):c.822G>C (p.Leu274=)
|
|
|
|
NM_014855.3(AP5Z1):c.825G>A (p.Ser275=)
|
|
|
|
NM_014855.3(AP5Z1):c.838A>C (p.Thr280Pro)
|
rs554060393
|
|
|
NM_014855.3(AP5Z1):c.838A>G (p.Thr280Ala)
|
rs554060393
|
|
|
NM_014855.3(AP5Z1):c.853C>T (p.Arg285Cys)
|
|
|
|
NM_014855.3(AP5Z1):c.863C>T (p.Pro288Leu)
|
|
|
|
NM_014855.3(AP5Z1):c.868del (p.Arg290fs)
|
rs756556933
|
|
|
NM_014855.3(AP5Z1):c.873G>A (p.Glu291=)
|
|
|
|
NM_014855.3(AP5Z1):c.890C>G (p.Ala297Gly)
|
rs927793345
|
|
|
NM_014855.3(AP5Z1):c.896_902dup (p.Cys301Ter)
|
|
|
|
NM_014855.3(AP5Z1):c.908G>A (p.Arg303His)
|
|
|
|
NM_014855.3(AP5Z1):c.913A>C (p.Ile305Leu)
|
|
|
|
NM_014855.3(AP5Z1):c.927C>T (p.Asn309=)
|
|
|
|
NM_014855.3(AP5Z1):c.929G>C (p.Arg310Pro)
|
|
|
|
NM_014855.3(AP5Z1):c.931+15del
|
|
|
|
NM_014855.3(AP5Z1):c.931+1G>A
|
rs1583232513
|
|
|
NM_014855.3(AP5Z1):c.932-12C>T
|
|
|
|
NM_014855.3(AP5Z1):c.932-19C>G
|
|
|
|
NM_014855.3(AP5Z1):c.932-19C>T
|
|
|
|
NM_014855.3(AP5Z1):c.932-7C>A
|
|
|
|
NM_014855.3(AP5Z1):c.936C>G (p.Ala312=)
|
|
|
|
NM_014855.3(AP5Z1):c.949G>T (p.Asp317Tyr)
|
rs775289012
|
|
|
NM_014855.3(AP5Z1):c.950dup (p.Asp317fs)
|
|
|
|
NM_014855.3(AP5Z1):c.952T>G (p.Ser318Ala)
|
|
|
|
NM_014855.3(AP5Z1):c.954C>T (p.Ser318=)
|
|
|
|
NM_014855.3(AP5Z1):c.955G>A (p.Asp319Asn)
|
|
|
|
NM_014855.3(AP5Z1):c.960G>C (p.Leu320=)
|
|
|
|
NM_014855.3(AP5Z1):c.969+14G>A
|
|
|
|
NM_014855.3(AP5Z1):c.969+17C>T
|
|
|
|
NM_014855.3(AP5Z1):c.969+18A>G
|
|
|
|
NM_014855.3(AP5Z1):c.969+3_969+6dup
|
rs748280348
|
|
|
NM_014855.3(AP5Z1):c.970-13C>G
|
|
|
|
NM_014855.3(AP5Z1):c.970-1G>A
|
|
|
|
NM_014855.3(AP5Z1):c.970-2A>G
|
|
|
|
NM_014855.3(AP5Z1):c.970-2_983del
|
rs1562408256
|
|
|
NM_014855.3(AP5Z1):c.970T>C (p.Cys324Arg)
|
rs938469146
|
|
|
NM_014855.3(AP5Z1):c.972C>G (p.Cys324Trp)
|
rs1583233186
|
|
|
NM_014855.3(AP5Z1):c.973C>A (p.Leu325Met)
|
rs766343074
|
|
|
NM_014855.3(AP5Z1):c.978G>A (p.Val326=)
|
rs1463923803
|
|
|
NM_014855.3(AP5Z1):c.984C>G (p.Ala328=)
|
rs763042987
|
|
|
NM_014855.3(AP5Z1):c.988C>G (p.Leu330Val)
|
|
|
|
NM_014855.3(AP5Z1):c.988C>T (p.Leu330=)
|
rs376680652
|
|
|
NM_014855.3(AP5Z1):c.98A>G (p.Gln33Arg)
|
|
|
|
NM_014946.3(SPAST):c.(?_1729)_(1851_?)del
|
|
|
|
NM_014946.3(SPAST):c.1494-?_1728+?del
|
|
|
|
NM_014946.4(SPAST):c.*1858T>G
|
rs573241334
|
|
|
NM_014946.4(SPAST):c.*1969A>T
|
rs533154653
|
|
|
NM_014946.4(SPAST):c.*2196A>T
|
rs886055979
|
|
|
NM_014946.4(SPAST):c.*219C>T
|
rs1036761303
|
|
|
NM_014946.4(SPAST):c.*2658A>T
|
rs886055981
|
|
|
NM_014946.4(SPAST):c.*2672T>C
|
rs1680279812
|
|
|
NM_014946.4(SPAST):c.*2920T>C
|
rs1573191306
|
|
|
NM_014946.4(SPAST):c.*533T>G
|
rs886055969
|
|
|
NM_014946.4(SPAST):c.*796T>G
|
rs1680216994
|
|
|
NM_014946.4(SPAST):c.*892T>G
|
rs886055972
|
|
|
NM_014946.4(SPAST):c.-112_415+1779del
|
|
|
|
NM_014946.4(SPAST):c.-220G>T
|
rs886055957
|
|
|
NM_014946.4(SPAST):c.-90C>A
|
rs1380704736
|
|
|
NM_014946.4(SPAST):c.1002C>G (p.Asp334Glu)
|
rs762108936
|
|
|
NM_014946.4(SPAST):c.1003A>C (p.Asn335His)
|
|
|
|
NM_014946.4(SPAST):c.1004+16T>C
|
|
|
|
NM_014946.4(SPAST):c.1004+17A>G
|
|
|
|
NM_014946.4(SPAST):c.1004+1G>C
|
rs1553315236
|
|
|
NM_014946.4(SPAST):c.1004+1G>T
|
rs1553315236
|
|
|
NM_014946.4(SPAST):c.1004+2T>G
|
rs1553315240
|
|
|
NM_014946.4(SPAST):c.1004+3_1004+6del
|
rs1553315234
|
|
|
NM_014946.4(SPAST):c.1004+5G>C
|
|
|
|
NM_014946.4(SPAST):c.1004+5G>T
|
rs1320663265
|
|
|
NM_014946.4(SPAST):c.1005-16A>C
|
|
|
|
NM_014946.4(SPAST):c.1005-1G>A
|
rs1553315318
|
|
|
NM_014946.4(SPAST):c.1005-1G>C
|
rs1553315318
|
|
|
NM_014946.4(SPAST):c.1005-1G>T
|
rs1553315318
|
|
|
NM_014946.4(SPAST):c.1005-1del
|
rs2148734462
|
|
|
NM_014946.4(SPAST):c.1005-2A>C
|
rs1553315316
|
|
|
NM_014946.4(SPAST):c.1005-5C>A
|
rs377123251
|
|
|
NM_014946.4(SPAST):c.100C>A (p.Pro34Thr)
|
|
|
|
NM_014946.4(SPAST):c.1011_1012dup (p.Ala338fs)
|
rs2148734474
|
|
|
NM_014946.4(SPAST):c.1016T>C (p.Val339Ala)
|
|
|
|
NM_014946.4(SPAST):c.1018_1022del (p.Val339_Lys340insTer)
|
rs1553315321
|
|
|
NM_014946.4(SPAST):c.102C>T (p.Pro34=)
|
|
|
|
NM_014946.4(SPAST):c.102_122dup (p.Pro41_Pro42insAlaAlaGlyProAlaProPro)
|
|
|
|
NM_014946.4(SPAST):c.1031T>A (p.Ile344Lys)
|
rs121908513
|
|
|
NM_014946.4(SPAST):c.1031T>G (p.Ile344Arg)
|
rs121908513
|
|
|
NM_014946.4(SPAST):c.1032A>G (p.Ile344Met)
|
|
|
|
NM_014946.4(SPAST):c.1033G>C (p.Ala345Pro)
|
|
|
|
NM_014946.4(SPAST):c.1035T>G (p.Ala345=)
|
|
|
|
NM_014946.4(SPAST):c.1037G>T (p.Gly346Val)
|
rs1573121594
|
|
|
NM_014946.4(SPAST):c.1038T>C (p.Gly346=)
|
|
|
|
NM_014946.4(SPAST):c.1039C>T (p.Gln347Ter)
|
rs1553315329
|
|
|
NM_014946.4(SPAST):c.1040A>C (p.Gln347Pro)
|
rs1678825469
|
|
|
NM_014946.4(SPAST):c.1047G>C (p.Leu349Phe)
|
rs2148734527
|
|
|
NM_014946.4(SPAST):c.1047G>T (p.Leu349Phe)
|
|
|
|
NM_014946.4(SPAST):c.1048G>A (p.Ala350Thr)
|
rs1553315333
|
|
|
NM_014946.4(SPAST):c.1048G>T (p.Ala350Ser)
|
|
|
|
NM_014946.4(SPAST):c.1049C>T (p.Ala350Val)
|
rs1060502231
|
|
|
NM_014946.4(SPAST):c.1063C>T (p.Gln355Ter)
|
rs1678826642
|
|
|
NM_014946.4(SPAST):c.1066G>A (p.Glu356Lys)
|
rs1057519181
|
|
|
NM_014946.4(SPAST):c.1066G>T (p.Glu356Ter)
|
|
|
|
NM_014946.4(SPAST):c.1067A>G (p.Glu356Gly)
|
rs1553315345
|
|
|
NM_014946.4(SPAST):c.1069del (p.Ile357fs)
|
rs2148734579
|
|
|
NM_014946.4(SPAST):c.1071del (p.Ile357fs)
|
rs2148734583
|
|
|
NM_014946.4(SPAST):c.1076T>C (p.Ile359Thr)
|
|
|
|
NM_014946.4(SPAST):c.1081C>T (p.Pro361Ser)
|
rs1553315350
|
|
|
NM_014946.4(SPAST):c.1082_1085del (p.Pro361fs)
|
|
|
|
NM_014946.4(SPAST):c.1082del (p.Pro361fs)
|
rs2148734593
|
|
|
NM_014946.4(SPAST):c.1083T>C (p.Pro361=)
|
|
|
|
NM_014946.4(SPAST):c.1085C>G (p.Ser362Cys)
|
rs121908509
|
|
|
NM_014946.4(SPAST):c.1085C>T (p.Ser362Phe)
|
rs121908509
|
|
|
NM_014946.4(SPAST):c.1091G>C (p.Arg364Thr)
|
rs1553315355
|
|
|
NM_014946.4(SPAST):c.1091G>T (p.Arg364Met)
|
rs1553315355
|
|
|
NM_014946.4(SPAST):c.1091_1092del (p.Arg364fs)
|
rs1573121790
|
|
|
NM_014946.4(SPAST):c.1092G>A (p.Arg364=)
|
|
|
|
NM_014946.4(SPAST):c.1096G>A (p.Glu366Lys)
|
rs1553315356
|
|
|
NM_014946.4(SPAST):c.1096G>T (p.Glu366Ter)
|
|
|
|
NM_014946.4(SPAST):c.1098+19C>A
|
|
|
|
NM_014946.4(SPAST):c.1098+1G>A
|
rs1377020559
|
|
|
NM_014946.4(SPAST):c.1098+2T>A
|
rs2148734626
|
|
|
NM_014946.4(SPAST):c.1098+6A>C
|
|
|
|
NM_014946.4(SPAST):c.1098G>A (p.Glu366=)
|
|
|
|
NM_014946.4(SPAST):c.1099-1062_1246-1342del
|
|
|
|
NM_014946.4(SPAST):c.1099-12T>C
|
rs1239734940
|
|
|
NM_014946.4(SPAST):c.1099-17A>C
|
|
|
|
NM_014946.4(SPAST):c.1099-1G>A
|
rs2148744884
|
|
|
NM_014946.4(SPAST):c.1099-1G>C
|
|
|
|
NM_014946.4(SPAST):c.1099-20C>A
|
|
|
|
NM_014946.4(SPAST):c.1099-20C>G
|
|
|
|
NM_014946.4(SPAST):c.1099-2A>C
|
|
|
|
NM_014946.4(SPAST):c.1099-2A>G
|
|
|
|
NM_014946.4(SPAST):c.1099-4T>G
|
|
|
|
NM_014946.4(SPAST):c.1099-956_1246-1672del
|
|
|
|
NM_014946.4(SPAST):c.10C>T (p.Pro4Ser)
|
rs937319046
|
|
|
NM_014946.4(SPAST):c.1103T>C (p.Phe368Ser)
|
rs1553316799
|
|
|
NM_014946.4(SPAST):c.1105A>C (p.Thr369Pro)
|
rs1553316802
|
|
|
NM_014946.4(SPAST):c.1107A>G (p.Thr369=)
|
rs1573139443
|
|
|
NM_014946.4(SPAST):c.1108G>T (p.Gly370Trp)
|
rs2148744904
|
|
|
NM_014946.4(SPAST):c.1111C>T (p.Leu371Phe)
|
rs1060499670
|
|
|
NM_014946.4(SPAST):c.1112T>C (p.Leu371Pro)
|
|
|
|
NM_014946.4(SPAST):c.1112T>G (p.Leu371Arg)
|
rs1553316806
|
|
|
NM_014946.4(SPAST):c.1115G>T (p.Arg372Ile)
|
rs864622327
|
|
|
NM_014946.4(SPAST):c.1115del (p.Arg372fs)
|
|
|
|
NM_014946.4(SPAST):c.1116A>C (p.Arg372Ser)
|
rs1425976342
|
|
|
NM_014946.4(SPAST):c.1117G>C (p.Ala373Pro)
|
rs1679214464
|
|
|
NM_014946.4(SPAST):c.1118del (p.Ala373fs)
|
rs2148744935
|
|
|
NM_014946.4(SPAST):c.1119T>C (p.Ala373=)
|
|
|
|
NM_014946.4(SPAST):c.1119del (p.Pro374fs)
|
|
|
|
NM_014946.4(SPAST):c.1129G>C (p.Gly377Arg)
|
rs1679215171
|
|
|
NM_014946.4(SPAST):c.1132C>G (p.Leu378Val)
|
rs2148744957
|
|
|
NM_014946.4(SPAST):c.1133T>A (p.Leu378Gln)
|
rs1553316816
|
|
|
NM_014946.4(SPAST):c.1134_1136dup (p.Leu380_Phe381insLeu)
|
|
|
|
NM_014946.4(SPAST):c.1138C>T (p.Leu380Phe)
|
|
|
|
NM_014946.4(SPAST):c.1139T>C (p.Leu380Pro)
|
rs1553316819
|
|
|
NM_014946.4(SPAST):c.1139_1160del (p.Leu380fs)
|
rs2148744982
|
|
|
NM_014946.4(SPAST):c.113C>T (p.Pro38Leu)
|
rs1041662261
|
|
|
NM_014946.4(SPAST):c.113dup (p.Ala39fs)
|
|
|
|
NM_014946.4(SPAST):c.1141T>G (p.Phe381Val)
|
rs1553316821
|
|
|
NM_014946.4(SPAST):c.1144G>T (p.Gly382Cys)
|
|
|
|
NM_014946.4(SPAST):c.1145G>C (p.Gly382Ala)
|
rs2148744995
|
|
|
NM_014946.4(SPAST):c.1148C>G (p.Pro383Arg)
|
rs2148745001
|
|
|
NM_014946.4(SPAST):c.1149A>G (p.Pro383=)
|
|
|
|
NM_014946.4(SPAST):c.1149A>T (p.Pro383=)
|
|
|
|
NM_014946.4(SPAST):c.1151C>G (p.Pro384Arg)
|
rs1573139616
|
|
|
NM_014946.4(SPAST):c.1151C>T (p.Pro384Leu)
|
rs1573139616
|
|
|
NM_014946.4(SPAST):c.1153G>A (p.Gly385Arg)
|
|
|
|
NM_014946.4(SPAST):c.1157A>G (p.Asn386Ser)
|
rs121908514
|
|
|
NM_014946.4(SPAST):c.1159G>A (p.Gly387Arg)
|
rs1679217117
|
|
|
NM_014946.4(SPAST):c.1163A>G (p.Lys388Arg)
|
rs1553316837
|
|
|
NM_014946.4(SPAST):c.1164G>C (p.Lys388Asn)
|
rs1553316838
|
|
|
NM_014946.4(SPAST):c.1164G>T (p.Lys388Asn)
|
rs1553316838
|
|
|
NM_014946.4(SPAST):c.1165A>G (p.Thr389Ala)
|
rs786204132
|
|
|
NM_014946.4(SPAST):c.1166C>T (p.Thr389Ile)
|
|
|
|
NM_014946.4(SPAST):c.1168A>G (p.Met390Val)
|
rs797044850
|
|
|
NM_014946.4(SPAST):c.1169T>A (p.Met390Lys)
|
rs1131691977
|
|
|
NM_014946.4(SPAST):c.1170G>A (p.Met390Ile)
|
rs1131691971
|
|
|
NM_014946.4(SPAST):c.1173+185_1245del
|
|
|
|
NM_014946.4(SPAST):c.1173+1G>A
|
rs1060502226
|
|
|
NM_014946.4(SPAST):c.1173+20T>C
|
rs1196646723
|
|
|
NM_014946.4(SPAST):c.1173+2dup
|
|
|
|
NM_014946.4(SPAST):c.1173+7G>T
|
|
|
|
NM_014946.4(SPAST):c.1173G>A (p.Leu391=)
|
rs1679218212
|
|
|
NM_014946.4(SPAST):c.1173_1173+1insT
|
|
|
|
NM_014946.4(SPAST):c.1174-15T>C
|
|
|
|
NM_014946.4(SPAST):c.1174-16C>T
|
|
|
|
NM_014946.4(SPAST):c.1174-19G>T
|
|
|
|
NM_014946.4(SPAST):c.1174-1G>A
|
rs1553317024
|
|
|
NM_014946.4(SPAST):c.1174-1G>C
|
rs1553317024
|
|
|
NM_014946.4(SPAST):c.1174-270_1246-1724dup
|
|
|
|
NM_014946.4(SPAST):c.1174-2A>T
|
rs1553317018
|
|
|
NM_014946.4(SPAST):c.1174-5T>C
|
rs1271850172
|
|
|
NM_014946.4(SPAST):c.1174G>C (p.Ala392Pro)
|
rs1558331867
|
|
|
NM_014946.4(SPAST):c.1179_1194del (p.Lys393fs)
|
|
|
|
NM_014946.4(SPAST):c.117C>G (p.Ala39=)
|
|
|
|
NM_014946.4(SPAST):c.1180del (p.Ala394fs)
|
rs1679263902
|
|
|
NM_014946.4(SPAST):c.1181C>A (p.Ala394Glu)
|
rs1189374970
|
|
|
NM_014946.4(SPAST):c.1182A>G (p.Ala394=)
|
rs1679264088
|
|
|
NM_014946.4(SPAST):c.1186G>C (p.Ala396Pro)
|
|
|
|
NM_014946.4(SPAST):c.118C>T (p.Pro40Ser)
|
|
|
|
NM_014946.4(SPAST):c.1196C>A (p.Ser399Ter)
|
|
|
|
NM_014946.4(SPAST):c.1196C>G (p.Ser399Trp)
|
rs1553317025
|
|
|
NM_014946.4(SPAST):c.1196C>T (p.Ser399Leu)
|
rs1553317025
|
|
|
NM_014946.4(SPAST):c.1199del (p.Asn400fs)
|
|
|
|
NM_014946.4(SPAST):c.119C>T (p.Pro40Leu)
|
|
|
|
NM_014946.4(SPAST):c.11C>G (p.Pro4Arg)
|
|
|
|
NM_014946.4(SPAST):c.1206C>T (p.Thr402=)
|
|
|
|
NM_014946.4(SPAST):c.1206CTT[1] (p.Phe404del)
|
rs1553317028
|
|
|
NM_014946.4(SPAST):c.1208_1212del (p.Thr402_Phe403insTer)
|
rs1553317029
|
|
|
NM_014946.4(SPAST):c.1209C>A (p.Phe403Leu)
|
rs1553317030
|
|
|
NM_014946.4(SPAST):c.1209_1212del (p.Phe403fs)
|
rs1553317029
|
|
|
NM_014946.4(SPAST):c.1209del (p.Phe404fs)
|
rs1057520127
|
|
|
NM_014946.4(SPAST):c.120_121delinsAA (p.Pro41Thr)
|
|
|
|
NM_014946.4(SPAST):c.1210_1212del (p.Phe404del)
|
rs1679265391
|
|
|
NM_014946.4(SPAST):c.1211T>C (p.Phe404Ser)
|
rs1679265515
|
|
|
NM_014946.4(SPAST):c.1214del (p.Asn405fs)
|
|
|
|
NM_014946.4(SPAST):c.1215_1218del (p.Asn405fs)
|
rs2148746358
|
|
|
NM_014946.4(SPAST):c.1215_1219del (p.Asn405fs)
|
rs1553317032
|
|
|
NM_014946.4(SPAST):c.1216A>G (p.Ile406Val)
|
rs587777757
|
|
|
NM_014946.4(SPAST):c.1217T>C (p.Ile406Thr)
|
rs1553317038
|
|
|
NM_014946.4(SPAST):c.1219A>C (p.Ser407Arg)
|
rs1553317041
|
|
|
NM_014946.4(SPAST):c.1220G>A (p.Ser407Asn)
|
rs1573142616
|
|
|
NM_014946.4(SPAST):c.1223C>T (p.Ala408Val)
|
rs1553317043
|
|
|
NM_014946.4(SPAST):c.1224T>G (p.Ala408=)
|
|
|
|
NM_014946.4(SPAST):c.1225G>A (p.Ala409Thr)
|
rs1064793273
|
|
|
NM_014946.4(SPAST):c.1226C>A (p.Ala409Glu)
|
rs2148746390
|
|
|
NM_014946.4(SPAST):c.1226C>T (p.Ala409Val)
|
rs2148746390
|
|
|
NM_014946.4(SPAST):c.1228A>C (p.Ser410Arg)
|
rs1679266894
|
|
|
NM_014946.4(SPAST):c.1229G>T (p.Ser410Ile)
|
|
|
|
NM_014946.4(SPAST):c.1232T>C (p.Leu411Ser)
|
rs1558331955
|
|
|
NM_014946.4(SPAST):c.1232T>G (p.Leu411Ter)
|
|
|
|
NM_014946.4(SPAST):c.1237T>A (p.Ser413Thr)
|
rs1679267183
|
|
|
NM_014946.4(SPAST):c.1238C>A (p.Ser413Ter)
|
rs1553317045
|
|
|
NM_014946.4(SPAST):c.1238C>T (p.Ser413Leu)
|
rs1553317045
|
|
|
NM_014946.4(SPAST):c.123G>T (p.Pro41=)
|
|
|
|
NM_014946.4(SPAST):c.1240A>C (p.Lys414Gln)
|
|
|
|
NM_014946.4(SPAST):c.1242A>G (p.Lys414=)
|
rs1553317048
|
|
|
NM_014946.4(SPAST):c.1245+10_1245+11del
|
rs755187805
|
|
|
NM_014946.4(SPAST):c.1245+19A>G
|
|
|
|
NM_014946.4(SPAST):c.1245+1G>C
|
|
|
|
NM_014946.4(SPAST):c.1245+1G>T
|
|
|
|
NM_014946.4(SPAST):c.1245+2_1245+4dup
|
|
|
|
NM_014946.4(SPAST):c.1245+3G>C
|
rs2148746437
|
|
|
NM_014946.4(SPAST):c.1245+4A>G
|
rs587777755
|
|
|
NM_014946.4(SPAST):c.1245+5G>A
|
rs1553317049
|
|
|
NM_014946.4(SPAST):c.1245+6T>G
|
rs1553317050
|
|
|
NM_014946.4(SPAST):c.1245del (p.Lys414_Tyr415insTer)
|
rs863224513
|
|
|
NM_014946.4(SPAST):c.1246-21_1246-14del
|
|
|
|
NM_014946.4(SPAST):c.1246-2896_1493+523dup
|
|
|
|
NM_014946.4(SPAST):c.1246-2897_1493+523dup
|
|
|
|
NM_014946.4(SPAST):c.1246G>A (p.Val416Met)
|
|
|
|
NM_014946.4(SPAST):c.1247T>C (p.Val416Ala)
|
rs1558336489
|
|
|
NM_014946.4(SPAST):c.124C>G (p.Pro42Ala)
|
|
|
|
NM_014946.4(SPAST):c.1250G>A (p.Gly417Glu)
|
rs1553318161
|
|
|
NM_014946.4(SPAST):c.1250G>T (p.Gly417Val)
|
rs1553318161
|
|
|
NM_014946.4(SPAST):c.1252G>A (p.Glu418Lys)
|
rs1553318164
|
|
|
NM_014946.4(SPAST):c.1252G>T (p.Glu418Ter)
|
rs1553318164
|
|
|
NM_014946.4(SPAST):c.1253A>G (p.Glu418Gly)
|
rs2148753625
|
|
|
NM_014946.4(SPAST):c.1253_1255del (p.Glu418del)
|
rs1558336544
|
|
|
NM_014946.4(SPAST):c.1255G>A (p.Gly419Arg)
|
|
|
|
NM_014946.4(SPAST):c.1256G>T (p.Gly419Val)
|
|
|
|
NM_014946.4(SPAST):c.1258G>C (p.Glu420Gln)
|
rs1558336551
|
|
|
NM_014946.4(SPAST):c.1259A>G (p.Glu420Gly)
|
rs2148753634
|
|
|
NM_014946.4(SPAST):c.1260G>T (p.Glu420Asp)
|
rs1679543195
|
|
|
NM_014946.4(SPAST):c.1261A>G (p.Lys421Glu)
|
rs1558336556
|
|
|
NM_014946.4(SPAST):c.1263del (p.Lys421fs)
|
rs1679543364
|
|
|
NM_014946.4(SPAST):c.1266G>C (p.Leu422Phe)
|
rs1679543653
|
|
|
NM_014946.4(SPAST):c.1266G>T (p.Leu422Phe)
|
rs1679543653
|
|
|
NM_014946.4(SPAST):c.1267G>C (p.Val423Leu)
|
rs1553318168
|
|
|
NM_014946.4(SPAST):c.1267G>T (p.Val423Leu)
|
rs1553318168
|
|
|
NM_014946.4(SPAST):c.126C>G (p.Pro42=)
|
rs755151658
|
|
|
NM_014946.4(SPAST):c.1271G>C (p.Arg424Thr)
|
rs2148753672
|
|
|
NM_014946.4(SPAST):c.1273G>C (p.Ala425Pro)
|
|
|
|
NM_014946.4(SPAST):c.1276C>G (p.Leu426Val)
|
rs1060502227
|
|
|
NM_014946.4(SPAST):c.1276C>T (p.Leu426Phe)
|
rs1060502227
|
|
|
NM_014946.4(SPAST):c.127G>C (p.Glu43Gln)
|
|
|
|
NM_014946.4(SPAST):c.127G>T (p.Glu43Ter)
|
rs573642949
|
|
|
NM_014946.4(SPAST):c.1281T>G (p.Phe427Leu)
|
|
|
|
NM_014946.4(SPAST):c.1291C>T (p.Arg431Ter)
|
rs786204126
|
|
|
NM_014946.4(SPAST):c.1291del (p.Arg431fs)
|
|
|
|
NM_014946.4(SPAST):c.1294G>T (p.Glu432Ter)
|
|
|
|
NM_014946.4(SPAST):c.129G>A (p.Glu43=)
|
|
|
|
NM_014946.4(SPAST):c.129G>C (p.Glu43Asp)
|
rs542793579
|
|
|
NM_014946.4(SPAST):c.12G>T (p.Pro4=)
|
|
|
|
NM_014946.4(SPAST):c.1300C>T (p.Gln434Ter)
|
|
|
|
NM_014946.4(SPAST):c.1303C>A (p.Pro435Thr)
|
|
|
|
NM_014946.4(SPAST):c.1304C>T (p.Pro435Leu)
|
rs1553318182
|
|
|
NM_014946.4(SPAST):c.1306T>C (p.Ser436Pro)
|
rs2148753700
|
|
|
NM_014946.4(SPAST):c.1306_1308del (p.Ser436del)
|
rs2148753695
|
|
|
NM_014946.4(SPAST):c.1307C>A (p.Ser436Tyr)
|
rs1553318184
|
|
|
NM_014946.4(SPAST):c.1307C>T (p.Ser436Phe)
|
rs1553318184
|
|
|
NM_014946.4(SPAST):c.1313T>C (p.Ile438Thr)
|
rs2148753712
|
|
|
NM_014946.4(SPAST):c.131C>A (p.Ser44Ter)
|
|
|
|
NM_014946.4(SPAST):c.1321+13T>C
|
|
|
|
NM_014946.4(SPAST):c.1321+19A>C
|
|
|
|
NM_014946.4(SPAST):c.1321+1G>A
|
rs2148753724
|
|
|
NM_014946.4(SPAST):c.1321+1G>T
|
rs2148753724
|
|
|
NM_014946.4(SPAST):c.1321+20C>T
|
|
|
|
NM_014946.4(SPAST):c.1321+2T>G
|
rs2148753725
|
|
|
NM_014946.4(SPAST):c.1321+2_1321+3insTT
|
|
|
|
NM_014946.4(SPAST):c.1321+3A>G
|
|
|
|
NM_014946.4(SPAST):c.1322-11A>G
|
|
|
|
NM_014946.4(SPAST):c.1322-13G>A
|
|
|
|
NM_014946.4(SPAST):c.1322-16C>G
|
|
|
|
NM_014946.4(SPAST):c.1322-19A>C
|
rs748912757
|
|
|
NM_014946.4(SPAST):c.1322-1G>T
|
rs1365753930
|
|
|
NM_014946.4(SPAST):c.1322-2A>C
|
rs1553318208
|
|
|
NM_014946.4(SPAST):c.1322-2A>G
|
rs1553318208
|
|
|
NM_014946.4(SPAST):c.1322-30_1322-2del
|
rs1553318205
|
|
|
NM_014946.4(SPAST):c.1322-3T>G
|
rs2148753899
|
|
|
NM_014946.4(SPAST):c.1322-4C>T
|
|
|
|
NM_014946.4(SPAST):c.1322-7C>T
|
|
|
|
NM_014946.4(SPAST):c.1322A>G (p.Asp441Gly)
|
rs121908512
|
|
|
NM_014946.4(SPAST):c.1322A>T (p.Asp441Val)
|
rs121908512
|
|
|
NM_014946.4(SPAST):c.1324G>A (p.Glu442Lys)
|
rs1553318214
|
|
|
NM_014946.4(SPAST):c.1325A>T (p.Glu442Val)
|
rs1553318215
|
|
|
NM_014946.4(SPAST):c.1326_1331del (p.Glu442_Val443del)
|
|
|
|
NM_014946.4(SPAST):c.1328T>G (p.Val443Gly)
|
rs2148753923
|
|
|
NM_014946.4(SPAST):c.1329T>G (p.Val443=)
|
|
|
|
NM_014946.4(SPAST):c.132G>T (p.Ser44=)
|
|
|
|
NM_014946.4(SPAST):c.1331A>G (p.Asp444Gly)
|
rs886041597
|
|
|
NM_014946.4(SPAST):c.1331dup (p.Asp444fs)
|
|
|
|
NM_014946.4(SPAST):c.1332T>C (p.Asp444=)
|
|
|
|
NM_014946.4(SPAST):c.1334G>A (p.Ser445Asn)
|
rs1131691838
|
|
|
NM_014946.4(SPAST):c.1335C>A (p.Ser445Arg)
|
rs121908519
|
|
|
NM_014946.4(SPAST):c.1339_1340del (p.Leu447fs)
|
rs1679553611
|
|
|
NM_014946.4(SPAST):c.1340T>C (p.Leu447Ser)
|
rs2148753950
|
|
|
NM_014946.4(SPAST):c.1340dup (p.Leu447fs)
|
|
|
|
NM_014946.4(SPAST):c.1343G>A (p.Cys448Tyr)
|
rs121908510
|
|
|
NM_014946.4(SPAST):c.1345G>T (p.Glu449Ter)
|
rs2148753960
|
|
|
NM_014946.4(SPAST):c.1348A>G (p.Arg450Gly)
|
rs1553318223
|
|
|
NM_014946.4(SPAST):c.1348_1351del (p.Arg450fs)
|
|
|
|
NM_014946.4(SPAST):c.1349G>A (p.Arg450Lys)
|
rs1679553997
|
|
|
NM_014946.4(SPAST):c.1350_1351del (p.Glu452fs)
|
rs2148753972
|
|
|
NM_014946.4(SPAST):c.1351A>G (p.Arg451Gly)
|
|
|
|
NM_014946.4(SPAST):c.1359_1360dup (p.Glu454fs)
|
rs1384312757
|
|
|
NM_014946.4(SPAST):c.135G>A (p.Pro45=)
|
rs757100197
|
|
|
NM_014946.4(SPAST):c.1360G>A (p.Glu454Lys)
|
rs1553318230
|
|
|
NM_014946.4(SPAST):c.1361A>G (p.Glu454Gly)
|
rs2148753986
|
|
|
NM_014946.4(SPAST):c.1361dup (p.His455fs)
|
rs1573156283
|
|
|
NM_014946.4(SPAST):c.1363C>G (p.His455Asp)
|
rs863224769
|
|
|
NM_014946.4(SPAST):c.1363C>T (p.His455Tyr)
|
|
|
|
NM_014946.4(SPAST):c.1366G>A (p.Asp456Asn)
|
rs1330471269
|
|
|
NM_014946.4(SPAST):c.1366_1369dup (p.Ala457fs)
|
|
|
|
NM_014946.4(SPAST):c.1368dup (p.Ala457fs)
|
rs1573156341
|
|
|
NM_014946.4(SPAST):c.1372A>C (p.Ser458Arg)
|
|
|
|
NM_014946.4(SPAST):c.1374T>G (p.Ser458Arg)
|
rs1036039694
|
|
|
NM_014946.4(SPAST):c.1375A>C (p.Arg459=)
|
|
|
|
NM_014946.4(SPAST):c.1375A>G (p.Arg459Gly)
|
rs1553318238
|
|
|
NM_014946.4(SPAST):c.1375del (p.Arg459fs)
|
rs2148754018
|
|
|
NM_014946.4(SPAST):c.1378C>T (p.Arg460Cys)
|
rs878854990
|
|
|
NM_014946.4(SPAST):c.1379G>A (p.Arg460His)
|
rs1553318241
|
|
|
NM_014946.4(SPAST):c.1379G>T (p.Arg460Leu)
|
|
|
|
NM_014946.4(SPAST):c.1382del (p.Leu461fs)
|
rs2148754032
|
|
|
NM_014946.4(SPAST):c.1384A>C (p.Lys462Gln)
|
rs1553318246
|
|
|
NM_014946.4(SPAST):c.1388C>A (p.Thr463Asn)
|
rs2148754049
|
|
|
NM_014946.4(SPAST):c.138T>G (p.His46Gln)
|
|
|
|
NM_014946.4(SPAST):c.1390G>A (p.Glu464Lys)
|
rs1679556566
|
|
|
NM_014946.4(SPAST):c.1390G>T (p.Glu464Ter)
|
rs1679556566
|
|
|
NM_014946.4(SPAST):c.1391A>C (p.Glu464Ala)
|
|
|
|
NM_014946.4(SPAST):c.1392del (p.Glu464fs)
|
rs1558336906
|
|
|
NM_014946.4(SPAST):c.1395del (p.Phe465_Leu466insTer)
|
rs587777751
|
|
|
NM_014946.4(SPAST):c.1396C>G (p.Leu466Val)
|
rs1553318252
|
|
|
NM_014946.4(SPAST):c.1398_1413+1dup
|
rs1558336927
|
|
|
NM_014946.4(SPAST):c.1405T>G (p.Phe469Val)
|
rs2148754101
|
|
|
NM_014946.4(SPAST):c.1408G>C (p.Asp470His)
|
rs1553318261
|
|
|
NM_014946.4(SPAST):c.1409A>T (p.Asp470Val)
|
rs121908516
|
|
|
NM_014946.4(SPAST):c.1411G>T (p.Gly471Cys)
|
rs1679558360
|
|
|
NM_014946.4(SPAST):c.1412G>A (p.Gly471Asp)
|
rs1553318274
|
|
|
NM_014946.4(SPAST):c.1413+10G>A
|
rs2148754141
|
|
|
NM_014946.4(SPAST):c.1413+10_1413+13del
|
|
|
|
NM_014946.4(SPAST):c.1413+19A>G
|
|
|
|
NM_014946.4(SPAST):c.1413+1G>A
|
rs1553318276
|
|
|
NM_014946.4(SPAST):c.1413+1_1413+2del
|
rs1679558544
|
|
|
NM_014946.4(SPAST):c.1413+2dup
|
rs587777756
|
|
|
NM_014946.4(SPAST):c.1413+3_1413+6del
|
rs570685843
|
|
|
NM_014946.4(SPAST):c.1413+5G>C
|
rs1553318282
|
|
|
NM_014946.4(SPAST):c.1413+6T>G
|
rs1553318284
|
|
|
NM_014946.4(SPAST):c.1414-15A>G
|
|
|
|
NM_014946.4(SPAST):c.1414-1G>C
|
rs786204163
|
|
|
NM_014946.4(SPAST):c.1414-2A>G
|
|
|
|
NM_014946.4(SPAST):c.1414-2A>T
|
rs1553318304
|
|
|
NM_014946.4(SPAST):c.1414-6T>C
|
|
|
|
NM_014946.4(SPAST):c.1415T>G (p.Val472Gly)
|
|
|
|
NM_014946.4(SPAST):c.1417C>T (p.Gln473Ter)
|
rs757130394
|
|
|
NM_014946.4(SPAST):c.1419G>A (p.Gln473=)
|
|
|
|
NM_014946.4(SPAST):c.142C>T (p.Arg48Trp)
|
|
|
|
NM_014946.4(SPAST):c.1432G>A (p.Asp478Asn)
|
rs1191508807
|
|
|
NM_014946.4(SPAST):c.1433A>T (p.Asp478Val)
|
rs2148754294
|
|
|
NM_014946.4(SPAST):c.1437_1438del (p.Arg479fs)
|
rs864622268
|
|
|
NM_014946.4(SPAST):c.1441_1446del (p.Leu481_Val482del)
|
|
|
|
NM_014946.4(SPAST):c.1442_1443insA (p.Val482fs)
|
rs1553318313
|
|
|
NM_014946.4(SPAST):c.1443dup (p.Val482fs)
|
|
|
|
NM_014946.4(SPAST):c.1445T>C (p.Val482Ala)
|
rs1417318347
|
|
|
NM_014946.4(SPAST):c.1448T>C (p.Met483Thr)
|
rs1679565382
|
|
|
NM_014946.4(SPAST):c.1448T>G (p.Met483Arg)
|
|
|
|
NM_014946.4(SPAST):c.1450G>C (p.Gly484Arg)
|
rs1553318317
|
|
|
NM_014946.4(SPAST):c.1451G>A (p.Gly484Asp)
|
rs1558337098
|
|
|
NM_014946.4(SPAST):c.1453G>C (p.Ala485Pro)
|
|
|
|
NM_014946.4(SPAST):c.1456A>C (p.Thr486Pro)
|
|
|
|
NM_014946.4(SPAST):c.1456A>G (p.Thr486Ala)
|
rs1553318320
|
|
|
NM_014946.4(SPAST):c.1457C>T (p.Thr486Ile)
|
rs1558337122
|
|
|
NM_014946.4(SPAST):c.1458_1459dup (p.Asn487fs)
|
rs1558337136
|
|
|
NM_014946.4(SPAST):c.1459A>C (p.Asn487His)
|
rs1553318323
|
|
|
NM_014946.4(SPAST):c.1459A>G (p.Asn487Asp)
|
rs1553318323
|
|
|
NM_014946.4(SPAST):c.1461T>C (p.Asn487=)
|
|
|
|
NM_014946.4(SPAST):c.1461T>G (p.Asn487Lys)
|
|
|
|
NM_014946.4(SPAST):c.1462A>G (p.Arg488Gly)
|
rs1553318329
|
|
|
NM_014946.4(SPAST):c.1462A>T (p.Arg488Trp)
|
rs1553318329
|
|
|
NM_014946.4(SPAST):c.1463_1464insATTA (p.Pro489fs)
|
rs2148754355
|
|
|
NM_014946.4(SPAST):c.1466C>T (p.Pro489Leu)
|
rs1553318331
|
|
|
NM_014946.4(SPAST):c.1468C>T (p.Gln490Ter)
|
rs1553318336
|
|
|
NM_014946.4(SPAST):c.1469_1470del (p.Gln490fs)
|
rs1573157108
|
|
|
NM_014946.4(SPAST):c.1472A>G (p.Glu491Gly)
|
rs2148754376
|
|
|
NM_014946.4(SPAST):c.1475T>G (p.Leu492Arg)
|
|
|
|
NM_014946.4(SPAST):c.1477G>C (p.Asp493His)
|
rs1060499939
|
|
|
NM_014946.4(SPAST):c.1477G>T (p.Asp493Tyr)
|
rs1060499939
|
|
|
NM_014946.4(SPAST):c.1480G>T (p.Glu494Ter)
|
|
|
|
NM_014946.4(SPAST):c.1483G>A (p.Ala495Thr)
|
rs1060502228
|
|
|
NM_014946.4(SPAST):c.1483G>T (p.Ala495Ser)
|
rs1060502228
|
|
|
NM_014946.4(SPAST):c.1484C>T (p.Ala495Val)
|
rs1553318347
|
|
|
NM_014946.4(SPAST):c.1486G>C (p.Val496Leu)
|
rs779662872
|
|
|
NM_014946.4(SPAST):c.1492A>G (p.Arg498Gly)
|
rs1553318350
|
|
|
NM_014946.4(SPAST):c.1493+1G>A
|
rs1553318351
|
|
|
NM_014946.4(SPAST):c.1493+1G>T
|
rs1553318351
|
|
|
NM_014946.4(SPAST):c.1493+2T>A
|
rs1553318353
|
|
|
NM_014946.4(SPAST):c.1493+2T>C
|
rs1553318353
|
|
|
NM_014946.4(SPAST):c.1493+2_1493+5del
|
rs1558337180
|
|
|
NM_014946.4(SPAST):c.1493+8G>A
|
|
|
|
NM_014946.4(SPAST):c.1493+9A>C
|
|
|
|
NM_014946.4(SPAST):c.1493G>A (p.Arg498Lys)
|
|
|
|
NM_014946.4(SPAST):c.1493G>C (p.Arg498Thr)
|
rs2148754411
|
|
|
NM_014946.4(SPAST):c.1494-1393_1688-466dup
|
|
|
|
NM_014946.4(SPAST):c.1494-15G>A
|
|
|
|
NM_014946.4(SPAST):c.1494-16G>A
|
|
|
|
NM_014946.4(SPAST):c.1494-1G>A
|
rs1315245986
|
|
|
NM_014946.4(SPAST):c.1494-1G>C
|
rs1315245986
|
|
|
NM_014946.4(SPAST):c.1494-2A>C
|
rs1218081251
|
|
|
NM_014946.4(SPAST):c.1494-2A>G
|
rs1218081251
|
|
|
NM_014946.4(SPAST):c.1494-2A>T
|
rs1218081251
|
|
|
NM_014946.4(SPAST):c.1494-3T>G
|
|
|
|
NM_014946.4(SPAST):c.1494-3del
|
|
|
|
NM_014946.4(SPAST):c.1494-3dup
|
rs760322678
|
|
|
NM_014946.4(SPAST):c.1494-5T>G
|
rs1553319072
|
|
|
NM_014946.4(SPAST):c.1494-9T>C
|
|
|
|
NM_014946.4(SPAST):c.1494G>C (p.Arg498Ser)
|
rs1553319075
|
|
|
NM_014946.4(SPAST):c.1495C>A (p.Arg499Ser)
|
rs121908511
|
|
|
NM_014946.4(SPAST):c.1495C>T (p.Arg499Cys)
|
rs121908511
|
|
|
NM_014946.4(SPAST):c.1496G>A (p.Arg499His)
|
rs878854991
|
|
|
NM_014946.4(SPAST):c.1496G>T (p.Arg499Leu)
|
rs878854991
|
|
|
NM_014946.4(SPAST):c.1496del (p.Arg499fs)
|
rs2148758241
|
|
|
NM_014946.4(SPAST):c.1499T>G (p.Phe500Cys)
|
rs1679732057
|
|
|
NM_014946.4(SPAST):c.149T>C (p.Leu50Pro)
|
|
|
|
NM_014946.4(SPAST):c.1500C>G (p.Phe500Leu)
|
|
|
|
NM_014946.4(SPAST):c.1504A>G (p.Lys502Glu)
|
|
|
|
NM_014946.4(SPAST):c.1504A>T (p.Lys502Ter)
|
|
|
|
NM_014946.4(SPAST):c.1505A>C (p.Lys502Thr)
|
rs1558339891
|
|
|
NM_014946.4(SPAST):c.1506del (p.Lys502fs)
|
rs2148758252
|
|
|
NM_014946.4(SPAST):c.1507C>T (p.Arg503Trp)
|
rs864622162
|
|
|
NM_014946.4(SPAST):c.1508G>A (p.Arg503Gln)
|
|
|
|
NM_014946.4(SPAST):c.1512A>G (p.Val504=)
|
|
|
|
NM_014946.4(SPAST):c.1513_1528del (p.Tyr505fs)
|
|
|
|
NM_014946.4(SPAST):c.1514_1515del (p.Tyr505fs)
|
rs1679732948
|
|
|
NM_014946.4(SPAST):c.1515T>C (p.Tyr505=)
|
|
|
|
NM_014946.4(SPAST):c.1525C>A (p.Pro509Thr)
|
rs1553319092
|
|
|
NM_014946.4(SPAST):c.1525C>G (p.Pro509Ala)
|
rs1553319092
|
|
|
NM_014946.4(SPAST):c.1525C>T (p.Pro509Ser)
|
|
|
|
NM_014946.4(SPAST):c.1525_1530del (p.Pro509_Asn510del)
|
|
|
|
NM_014946.4(SPAST):c.1526C>T (p.Pro509Leu)
|
rs1443578852
|
|
|
NM_014946.4(SPAST):c.152A>G (p.Tyr51Cys)
|
rs1356486929
|
|
|
NM_014946.4(SPAST):c.1535_1536+1del
|
rs1558339948
|
|
|
NM_014946.4(SPAST):c.1536+17G>C
|
rs201026422
|
|
|
NM_014946.4(SPAST):c.1536+1G>A
|
|
|
|
NM_014946.4(SPAST):c.1536+27del
|
|
|
|
NM_014946.4(SPAST):c.1536+27dup
|
|
|
|
NM_014946.4(SPAST):c.1536+2T>C
|
|
|
|
NM_014946.4(SPAST):c.1536+2dup
|
rs1573165113
|
|
|
NM_014946.4(SPAST):c.1536+3A>G
|
|
|
|
NM_014946.4(SPAST):c.1536+5G>A
|
rs1679734284
|
|
|
NM_014946.4(SPAST):c.1536G>A (p.Glu512=)
|
rs1553319093
|
|
|
NM_014946.4(SPAST):c.1536G>T (p.Glu512Asp)
|
rs1553319093
|
|
|
NM_014946.4(SPAST):c.1537-10T>G
|
|
|
|
NM_014946.4(SPAST):c.1537-11A>G
|
rs549538513
|
|
|
NM_014946.4(SPAST):c.1537-1G>A
|
rs1553319280
|
|
|
NM_014946.4(SPAST):c.1537-2A>C
|
|
|
|
NM_014946.4(SPAST):c.1537-2A>T
|
|
|
|
NM_014946.4(SPAST):c.1537-3C>G
|
rs2148759356
|
|
|
NM_014946.4(SPAST):c.1537-8T>G
|
rs2148759354
|
|
|
NM_014946.4(SPAST):c.1537A>T (p.Thr513Ser)
|
rs1553319281
|
|
|
NM_014946.4(SPAST):c.1538C>A (p.Thr513Lys)
|
|
|
|
NM_014946.4(SPAST):c.1538C>T (p.Thr513Ile)
|
rs2148759367
|
|
|
NM_014946.4(SPAST):c.1539_1540del (p.Arg514fs)
|
rs2148759370
|
|
|
NM_014946.4(SPAST):c.153C>G (p.Tyr51Ter)
|
rs1462628095
|
|
|
NM_014946.4(SPAST):c.153C>T (p.Tyr51=)
|
|
|
|
NM_014946.4(SPAST):c.1540A>G (p.Arg514Gly)
|
rs1553319286
|
|
|
NM_014946.4(SPAST):c.1550T>C (p.Leu517Ser)
|
rs2148759388
|
|
|
NM_014946.4(SPAST):c.1550T>G (p.Leu517Trp)
|
|
|
|
NM_014946.4(SPAST):c.1550del (p.Leu517fs)
|
|
|
|
NM_014946.4(SPAST):c.1553T>C (p.Leu518Pro)
|
rs1553319290
|
|
|
NM_014946.4(SPAST):c.1560_1561insTT (p.Leu521fs)
|
rs2148759400
|
|
|
NM_014946.4(SPAST):c.1561_1564del (p.Leu521fs)
|
rs2148759407
|
|
|
NM_014946.4(SPAST):c.1562T>A (p.Leu521Gln)
|
|
|
|
NM_014946.4(SPAST):c.1562dup (p.Leu522fs)
|
rs2148759412
|
|
|
NM_014946.4(SPAST):c.1563del (p.Leu522fs)
|
|
|
|
NM_014946.4(SPAST):c.1565T>C (p.Leu522Ser)
|
|
|
|
NM_014946.4(SPAST):c.1567del (p.Cys523fs)
|
|
|
|
NM_014946.4(SPAST):c.156T>G (p.Tyr52Ter)
|
rs1553394497
|
|
|
NM_014946.4(SPAST):c.1573C>A (p.Gln525Lys)
|
|
|
|
NM_014946.4(SPAST):c.1573C>T (p.Gln525Ter)
|
rs1553319296
|
|
|
NM_014946.4(SPAST):c.1574A>G (p.Gln525Arg)
|
rs2148759426
|
|
|
NM_014946.4(SPAST):c.1577_1580del (p.Gly526fs)
|
rs1553319298
|
|
|
NM_014946.4(SPAST):c.157T>C (p.Phe53Leu)
|
rs200029938
|
|
|
NM_014946.4(SPAST):c.1583del (p.Pro528fs)
|
rs1573167562
|
|
|
NM_014946.4(SPAST):c.1591C>T (p.Gln531Ter)
|
rs2148759447
|
|
|
NM_014946.4(SPAST):c.1597_1598del (p.Glu533fs)
|
|
|
|
NM_014946.4(SPAST):c.1600C>A (p.Leu534Ile)
|
|
|
|
NM_014946.4(SPAST):c.1601T>C (p.Leu534Pro)
|
rs1553319317
|
|
|
NM_014946.4(SPAST):c.1601del (p.Leu534fs)
|
rs1553319318
|
|
|
NM_014946.4(SPAST):c.1606C>T (p.Gln536Ter)
|
rs2148759473
|
|
|
NM_014946.4(SPAST):c.1607_1609del (p.Gln536del)
|
rs2148759471
|
|
|
NM_014946.4(SPAST):c.1613C>A (p.Ala538Asp)
|
|
|
|
NM_014946.4(SPAST):c.1614T>G (p.Ala538=)
|
|
|
|
NM_014946.4(SPAST):c.1614dup (p.Arg539Ter)
|
|
|
|
NM_014946.4(SPAST):c.1616+19G>C
|
|
|
|
NM_014946.4(SPAST):c.1616+1G>A
|
rs1553319327
|
|
|
NM_014946.4(SPAST):c.1616+1G>C
|
rs1553319327
|
|
|
NM_014946.4(SPAST):c.1616+1G>T
|
|
|
|
NM_014946.4(SPAST):c.1616+5G>A
|
rs2148759485
|
|
|
NM_014946.4(SPAST):c.1617-15C>T
|
|
|
|
NM_014946.4(SPAST):c.1617-15_1624dup
|
rs2148760797
|
|
|
NM_014946.4(SPAST):c.1617-1G>A
|
rs1553319526
|
|
|
NM_014946.4(SPAST):c.1617-1G>T
|
|
|
|
NM_014946.4(SPAST):c.1617-2A>G
|
rs1553319524
|
|
|
NM_014946.4(SPAST):c.1617-2A>T
|
rs1553319524
|
|
|
NM_014946.4(SPAST):c.161C>G (p.Ser54Cys)
|
|
|
|
NM_014946.4(SPAST):c.1624G>C (p.Asp542His)
|
|
|
|
NM_014946.4(SPAST):c.1632C>A (p.Tyr544Ter)
|
|
|
|
NM_014946.4(SPAST):c.1632C>T (p.Tyr544=)
|
|
|
|
NM_014946.4(SPAST):c.1634C>T (p.Ser545Leu)
|
|
|
|
NM_014946.4(SPAST):c.1636G>A (p.Gly546Arg)
|
|
|
|
NM_014946.4(SPAST):c.1636G>C (p.Gly546Arg)
|
rs2148760843
|
|
|
NM_014946.4(SPAST):c.1637G>A (p.Gly546Glu)
|
rs786204057
|
|
|
NM_014946.4(SPAST):c.1637G>T (p.Gly546Val)
|
rs786204057
|
|
|
NM_014946.4(SPAST):c.163T>C (p.Tyr55His)
|
|
|
|
NM_014946.4(SPAST):c.1641T>C (p.Ser547=)
|
|
|
|
NM_014946.4(SPAST):c.1642G>C (p.Asp548His)
|
|
|
|
NM_014946.4(SPAST):c.1643A>T (p.Asp548Val)
|
|
|
|
NM_014946.4(SPAST):c.1646T>A (p.Leu549Gln)
|
|
|
|
NM_014946.4(SPAST):c.1646T>C (p.Leu549Pro)
|
rs1553319534
|
|
|
NM_014946.4(SPAST):c.1649C>T (p.Thr550Ile)
|
rs1553319537
|
|
|
NM_014946.4(SPAST):c.164A>C (p.Tyr55Ser)
|
|
|
|
NM_014946.4(SPAST):c.1650_1672del (p.Ala551fs)
|
|
|
|
NM_014946.4(SPAST):c.1651G>C (p.Ala551Pro)
|
|
|
|
NM_014946.4(SPAST):c.1656G>A (p.Leu552=)
|
|
|
|
NM_014946.4(SPAST):c.165C>A (p.Tyr55Ter)
|
rs368951498
|
|
|
NM_014946.4(SPAST):c.1663G>C (p.Asp555His)
|
|
|
|
NM_014946.4(SPAST):c.1664A>C (p.Asp555Ala)
|
|
|
|
NM_014946.4(SPAST):c.1664A>G (p.Asp555Gly)
|
|
|
|
NM_014946.4(SPAST):c.1664A>T (p.Asp555Val)
|
|
|
|
NM_014946.4(SPAST):c.1666G>A (p.Ala556Thr)
|
rs1558341948
|
|
|
NM_014946.4(SPAST):c.1666G>C (p.Ala556Pro)
|
rs1558341948
|
|
|
NM_014946.4(SPAST):c.1667C>T (p.Ala556Val)
|
rs2148760886
|
|
|
NM_014946.4(SPAST):c.166_175del (p.Tyr55_Pro56insTer)
|
rs1553394509
|
|
|
NM_014946.4(SPAST):c.1672C>G (p.Leu558Val)
|
|
|
|
NM_014946.4(SPAST):c.1673T>C (p.Leu558Pro)
|
|
|
|
NM_014946.4(SPAST):c.1675G>C (p.Gly559Arg)
|
rs878854992
|
|
|
NM_014946.4(SPAST):c.1676G>A (p.Gly559Asp)
|
rs864622179
|
|
|
NM_014946.4(SPAST):c.167C>G (p.Pro56Arg)
|
|
|
|
NM_014946.4(SPAST):c.167C>T (p.Pro56Leu)
|
rs1676399509
|
|
|
NM_014946.4(SPAST):c.167dup (p.Leu57fs)
|
|
|
|
NM_014946.4(SPAST):c.1684C>G (p.Arg562Gly)
|
rs121908518
|
|
|
NM_014946.4(SPAST):c.1684C>T (p.Arg562Ter)
|
rs121908518
|
|
|
NM_014946.4(SPAST):c.1687+10C>A
|
|
|
|
NM_014946.4(SPAST):c.1687+15G>A
|
rs1679842413
|
|
|
NM_014946.4(SPAST):c.1687+2T>A
|
|
|
|
NM_014946.4(SPAST):c.1688-1G>A
|
rs1573174147
|
|
|
NM_014946.4(SPAST):c.1688-1G>C
|
rs1573174147
|
|
|
NM_014946.4(SPAST):c.1688-2A>G
|
rs587777752
|
|
|
NM_014946.4(SPAST):c.1688-378_1728+1541del
|
|
|
|
NM_014946.4(SPAST):c.1688-3C>G
|
|
|
|
NM_014946.4(SPAST):c.1688-3C>T
|
rs1679915565
|
|
|
NM_014946.4(SPAST):c.1689_1690insACTAAAACC (p.Glu563_Leu564insThrLysThr)
|
rs2148762766
|
|
|
NM_014946.4(SPAST):c.168G>A (p.Pro56=)
|
|
|
|
NM_014946.4(SPAST):c.1691del (p.Leu564fs)
|
rs2148762771
|
|
|
NM_014946.4(SPAST):c.16G>T (p.Gly6Ter)
|
|
|
|
NM_014946.4(SPAST):c.1701dup (p.Gln568fs)
|
rs2148762787
|
|
|
NM_014946.4(SPAST):c.1714_1715del (p.Met572fs)
|
rs2148762813
|
|
|
NM_014946.4(SPAST):c.1715T>C (p.Met572Thr)
|
rs138146982
|
|
|
NM_014946.4(SPAST):c.1723del (p.Ser575fs)
|
|
|
|
NM_014946.4(SPAST):c.1724_1725insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCANNNNNNNNNNNNAAAAAAAAAAAAAAAAAAGAATATGTCTGCCAG (p.Ser575fs)
|
rs2148762802
|
|
|
NM_014946.4(SPAST):c.1728+12T>C
|
|
|
|
NM_014946.4(SPAST):c.1728+14_1728+15insTC
|
|
|
|
NM_014946.4(SPAST):c.1728+16A>C
|
|
|
|
NM_014946.4(SPAST):c.1728+18_1728+19insGCAG
|
|
|
|
NM_014946.4(SPAST):c.1728+1G>A
|
rs587777754
|
|
|
NM_014946.4(SPAST):c.1728+1G>C
|
rs587777754
|
|
|
NM_014946.4(SPAST):c.1728+1G>T
|
rs587777754
|
|
|
NM_014946.4(SPAST):c.1728+2T>C
|
|
|
|
NM_014946.4(SPAST):c.1728+2T>G
|
rs1553319874
|
|
|
NM_014946.4(SPAST):c.1728G>A (p.Glu576=)
|
rs1060502225
|
|
|
NM_014946.4(SPAST):c.1728G>T (p.Glu576Asp)
|
rs1060502225
|
|
|
NM_014946.4(SPAST):c.1729-1G>A
|
rs1064793976
|
|
|
NM_014946.4(SPAST):c.1729-1G>C
|
rs1064793976
|
|
|
NM_014946.4(SPAST):c.1729-20T>C
|
|
|
|
NM_014946.4(SPAST):c.1729-2A>G
|
rs1553321194
|
|
|
NM_014946.4(SPAST):c.1729-3331_*1641del
|
|
|
|
NM_014946.4(SPAST):c.1729-5T>A
|
|
|
|
NM_014946.4(SPAST):c.1729-884_*1715del
|
|
|
|
NM_014946.4(SPAST):c.1730T>G (p.Met577Arg)
|
rs1553321196
|
|
|
NM_014946.4(SPAST):c.1733_1736dup (p.Asn579fs)
|
|
|
|
NM_014946.4(SPAST):c.1739T>A (p.Ile580Asn)
|
|
|
|
NM_014946.4(SPAST):c.1740_1741delinsGT (p.Ile580_Arg581delinsMetTer)
|
|
|
|
NM_014946.4(SPAST):c.1740del (p.Arg581fs)
|
rs1680184249
|
|
|
NM_014946.4(SPAST):c.1741C>T (p.Arg581Ter)
|
rs778023258
|
|
|
NM_014946.4(SPAST):c.1742G>C (p.Arg581Pro)
|
rs749484350
|
|
|
NM_014946.4(SPAST):c.1744T>C (p.Leu582=)
|
rs886055962
|
|
|
NM_014946.4(SPAST):c.1752C>T (p.Asp584=)
|
|
|
|
NM_014946.4(SPAST):c.1754T>C (p.Phe585Ser)
|
rs2148769272
|
|
|
NM_014946.4(SPAST):c.1755C>A (p.Phe585Leu)
|
rs778602122
|
|
|
NM_014946.4(SPAST):c.1755C>T (p.Phe585=)
|
|
|
|
NM_014946.4(SPAST):c.1762T>C (p.Ser588Pro)
|
rs1131691972
|
|
|
NM_014946.4(SPAST):c.1762_1785del (p.Ser588_Ser595del)
|
|
|
|
NM_014946.4(SPAST):c.1767del (p.Lys591_Ile592insTer)
|
rs2148769284
|
|
|
NM_014946.4(SPAST):c.1768A>G (p.Lys590Glu)
|
|
|
|
NM_014946.4(SPAST):c.1774del (p.Lys591_Ile592insTer)
|
rs1680185365
|
|
|
NM_014946.4(SPAST):c.1774dup (p.Ile592fs)
|
rs1680185365
|
|
|
NM_014946.4(SPAST):c.1775T>A (p.Ile592Lys)
|
rs1553321237
|
|
|
NM_014946.4(SPAST):c.1775T>G (p.Ile592Arg)
|
|
|
|
NM_014946.4(SPAST):c.1775_1777del (p.Ile592del)
|
rs2148769305
|
|
|
NM_014946.4(SPAST):c.1775_1778del (p.Ile592fs)
|
rs1553321232
|
|
|
NM_014946.4(SPAST):c.1776A>G (p.Ile592Met)
|
|
|
|
NM_014946.4(SPAST):c.1780C>T (p.Arg594Cys)
|
rs1680185992
|
|
|
NM_014946.4(SPAST):c.1781del (p.Arg594fs)
|
rs2148769324
|
|
|
NM_014946.4(SPAST):c.1784G>A (p.Ser595Asn)
|
rs2148769328
|
|
|
NM_014946.4(SPAST):c.1785C>A (p.Ser595Arg)
|
rs145206063
|
|
|
NM_014946.4(SPAST):c.1785C>G (p.Ser595Arg)
|
rs145206063
|
|
|
NM_014946.4(SPAST):c.1796A>C (p.Gln599Pro)
|
|
|
|
NM_014946.4(SPAST):c.1797A>G (p.Gln599=)
|
|
|
|
NM_014946.4(SPAST):c.179G>A (p.Gly60Asp)
|
rs1558605758
|
|
|
NM_014946.4(SPAST):c.17G>A (p.Gly6Glu)
|
|
|
|
NM_014946.4(SPAST):c.1815_1816insGA (p.Arg606fs)
|
|
|
|
NM_014946.4(SPAST):c.1816C>T (p.Arg606Cys)
|
|
|
|
NM_014946.4(SPAST):c.1834G>A (p.Gly612Arg)
|
|
|
|
NM_014946.4(SPAST):c.1838A>G (p.Asp613Gly)
|
rs1553321269
|
|
|
NM_014946.4(SPAST):c.1839T>C (p.Asp613=)
|
|
|
|
NM_014946.4(SPAST):c.1840del (p.Thr614fs)
|
rs2148769396
|
|
|
NM_014946.4(SPAST):c.1840dup (p.Thr614fs)
|
|
|
|
NM_014946.4(SPAST):c.1841C>T (p.Thr614Ile)
|
rs1573186691
|
|
|
NM_014946.4(SPAST):c.1844C>T (p.Thr615Ile)
|
|
|
|
NM_014946.4(SPAST):c.1849T>C (p.Ter617Gln)
|
|
|
|
NM_014946.4(SPAST):c.1849T>G (p.Ter617Glu)
|
rs1553321270
|
|
|
NM_014946.4(SPAST):c.185dup (p.Leu63fs)
|
|
|
|
NM_014946.4(SPAST):c.188TGC[3] (p.Leu64_Arg65insLeu)
|
|
|
|
NM_014946.4(SPAST):c.189G>C (p.Leu63=)
|
|
|
|
NM_014946.4(SPAST):c.198G>C (p.Leu66Phe)
|
rs2148685510
|
|
|
NM_014946.4(SPAST):c.199_202delinsATCC (p.Val67_Ala68delinsIlePro)
|
rs1558605777
|
|
|
NM_014946.4(SPAST):c.19C>A (p.Arg7=)
|
rs779449573
|
|
|
NM_014946.4(SPAST):c.19C>T (p.Arg7Ter)
|
|
|
|
NM_014946.4(SPAST):c.1A>G (p.Met1Val)
|
|
|
|
NM_014946.4(SPAST):c.207C>T (p.Phe69=)
|
|
|
|
NM_014946.4(SPAST):c.207_222dup (p.Phe75fs)
|
|
|
|
NM_014946.4(SPAST):c.208C>A (p.His70Asn)
|
|
|
|
NM_014946.4(SPAST):c.209A>T (p.His70Leu)
|
|
|
|
NM_014946.4(SPAST):c.209_210dup (p.Leu71fs)
|
|
|
|
NM_014946.4(SPAST):c.20G>T (p.Arg7Leu)
|
rs750900931
|
|
|
NM_014946.4(SPAST):c.211C>T (p.Leu71=)
|
rs2148685540
|
|
|
NM_014946.4(SPAST):c.212del (p.Leu71fs)
|
rs2148685545
|
|
|
NM_014946.4(SPAST):c.217del (p.Leu73fs)
|
|
|
|
NM_014946.4(SPAST):c.219C>T (p.Leu73=)
|
|
|
|
NM_014946.4(SPAST):c.225C>A (p.Phe75Leu)
|
|
|
|
NM_014946.4(SPAST):c.225_226insCAC (p.Phe75_Val76insHis)
|
|
|
|
NM_014946.4(SPAST):c.226G>T (p.Val76Leu)
|
|
|
|
NM_014946.4(SPAST):c.232C>G (p.Leu78Val)
|
rs1558605868
|
|
|
NM_014946.4(SPAST):c.232C>T (p.Leu78Phe)
|
|
|
|
NM_014946.4(SPAST):c.234C>A (p.Leu78=)
|
|
|
|
NM_014946.4(SPAST):c.237C>A (p.Cys79Ter)
|
|
|
|
NM_014946.4(SPAST):c.238C>T (p.Gln80Ter)
|
rs1676403099
|
|
|
NM_014946.4(SPAST):c.23G>A (p.Gly8Glu)
|
|
|
|
NM_014946.4(SPAST):c.243C>A (p.Arg81=)
|
|
|
|
NM_014946.4(SPAST):c.24G>A (p.Gly8=)
|
|
|
|
NM_014946.4(SPAST):c.255C>T (p.Ala85=)
|
|
|
|
NM_014946.4(SPAST):c.259_260del (p.Met87fs)
|
rs2148685612
|
|
|
NM_014946.4(SPAST):c.263C>A (p.Ala88Glu)
|
|
|
|
NM_014946.4(SPAST):c.269A>G (p.Lys90Arg)
|
|
|
|
NM_014946.4(SPAST):c.26A>G (p.Lys9Arg)
|
|
|
|
NM_014946.4(SPAST):c.277T>C (p.Ser93Pro)
|
rs1156801351
|
|
|
NM_014946.4(SPAST):c.277T>G (p.Ser93Ala)
|
|
|
|
NM_014946.4(SPAST):c.27G>A (p.Lys9=)
|
|
|
|
NM_014946.4(SPAST):c.280G>A (p.Gly94Arg)
|
rs750218565
|
|
|
NM_014946.4(SPAST):c.284C>T (p.Ala95Val)
|
rs780016543
|
|
|
NM_014946.4(SPAST):c.285C>G (p.Ala95=)
|
rs754540160
|
|
|
NM_014946.4(SPAST):c.285C>T (p.Ala95=)
|
rs754540160
|
|
|
NM_014946.4(SPAST):c.286del (p.Ala96fs)
|
rs1573028017
|
|
|
NM_014946.4(SPAST):c.290C>G (p.Pro97Arg)
|
rs1314430315
|
|
|
NM_014946.4(SPAST):c.293C>T (p.Ala98Val)
|
|
|
|
NM_014946.4(SPAST):c.295C>T (p.Pro99Ser)
|
|
|
|
NM_014946.4(SPAST):c.296C>T (p.Pro99Leu)
|
|
|
|
NM_014946.4(SPAST):c.296_415+198del
|
rs2148685676
|
|
|
NM_014946.4(SPAST):c.301TCGGCC[3] (p.Ala104_Pro105insSerAla)
|
|
|
|
NM_014946.4(SPAST):c.302C>A (p.Ser101Ter)
|
rs746263735
|
|
|
NM_014946.4(SPAST):c.303G>A (p.Ser101=)
|
|
|
|
NM_014946.4(SPAST):c.306C>T (p.Ala102=)
|
|
|
|
NM_014946.4(SPAST):c.30G>C (p.Lys10Asn)
|
|
|
|
NM_014946.4(SPAST):c.311C>T (p.Ala104Val)
|
|
|
|
NM_014946.4(SPAST):c.312C>A (p.Ala104=)
|
|
|
|
NM_014946.4(SPAST):c.312C>T (p.Ala104=)
|
rs1198003195
|
|
|
NM_014946.4(SPAST):c.312_317del (p.104AP[1])
|
|
|
|
NM_014946.4(SPAST):c.312_317dup (p.104AP[3])
|
rs747993450
|
|
|
NM_014946.4(SPAST):c.314del (p.Pro105fs)
|
rs2148685718
|
|
|
NM_014946.4(SPAST):c.317C>T (p.Ala106Val)
|
rs1385218846
|
|
|
NM_014946.4(SPAST):c.320C>T (p.Pro107Leu)
|
rs776858496
|
|
|
NM_014946.4(SPAST):c.326C>G (p.Pro109Arg)
|
|
|
|
NM_014946.4(SPAST):c.326C>T (p.Pro109Leu)
|
|
|
|
NM_014946.4(SPAST):c.327G>A (p.Pro109=)
|
|
|
|
NM_014946.4(SPAST):c.328_340del (p.Gly110fs)
|
rs1410418105
|
|
|
NM_014946.4(SPAST):c.334G>T (p.Glu112Ter)
|
rs1553394603
|
|
|
NM_014946.4(SPAST):c.339C>T (p.Ala113=)
|
|
|
|
NM_014946.4(SPAST):c.340G>T (p.Glu114Ter)
|
rs1553394608
|
|
|
NM_014946.4(SPAST):c.344_353dup (p.Phe119fs)
|
rs1558606204
|
|
|
NM_014946.4(SPAST):c.358del (p.His120fs)
|
rs2148685798
|
|
|
NM_014946.4(SPAST):c.360C>T (p.His120=)
|
|
|
|
NM_014946.4(SPAST):c.361A>T (p.Lys121Ter)
|
rs1553394620
|
|
|
NM_014946.4(SPAST):c.369C>T (p.Ala123=)
|
rs959239665
|
|
|
NM_014946.4(SPAST):c.369dup (p.Phe124fs)
|
|
|
|
NM_014946.4(SPAST):c.371T>A (p.Phe124Tyr)
|
|
|
|
NM_014946.4(SPAST):c.372C>G (p.Phe124Leu)
|
rs754912349
|
|
|
NM_014946.4(SPAST):c.375G>A (p.Glu125=)
|
|
|
|
NM_014946.4(SPAST):c.377A>G (p.Tyr126Cys)
|
|
|
|
NM_014946.4(SPAST):c.377A>T (p.Tyr126Phe)
|
rs781065348
|
|
|
NM_014946.4(SPAST):c.379A>G (p.Ile127Val)
|
rs1395313104
|
|
|
NM_014946.4(SPAST):c.37T>A (p.Ser13Thr)
|
rs781222498
|
|
|
NM_014946.4(SPAST):c.381C>T (p.Ile127=)
|
|
|
|
NM_014946.4(SPAST):c.390C>G (p.Ala130=)
|
|
|
|
NM_014946.4(SPAST):c.390_391del (p.Leu131fs)
|
rs2148685848
|
|
|
NM_014946.4(SPAST):c.390_391delinsGGT (p.Leu131fs)
|
rs1060502230
|
|
|
NM_014946.4(SPAST):c.391C>T (p.Leu131=)
|
rs1440932106
|
|
|
NM_014946.4(SPAST):c.391_392insGGT (p.Ala130_Leu131insArg)
|
rs2148685859
|
|
|
NM_014946.4(SPAST):c.397A>G (p.Ile133Val)
|
|
|
|
NM_014946.4(SPAST):c.39C>T (p.Ser13=)
|
|
|
|
NM_014946.4(SPAST):c.3G>C (p.Met1Ile)
|
|
|
|
NM_014946.4(SPAST):c.402T>C (p.Asp134=)
|
|
|
|
NM_014946.4(SPAST):c.40G>A (p.Gly14Ser)
|
|
|
|
NM_014946.4(SPAST):c.410del (p.Glu137fs)
|
rs1060502229
|
|
|
NM_014946.4(SPAST):c.411_412dup (p.Lys138fs)
|
|
|
|
NM_014946.4(SPAST):c.415+10G>T
|
rs1354537232
|
|
|
NM_014946.4(SPAST):c.415+12G>C
|
rs539075273
|
|
|
NM_014946.4(SPAST):c.415+17G>C
|
|
|
|
NM_014946.4(SPAST):c.415+1G>A
|
rs1057521135
|
|
|
NM_014946.4(SPAST):c.415+1G>C
|
|
|
|
NM_014946.4(SPAST):c.415+1G>T
|
rs1057521135
|
|
|
NM_014946.4(SPAST):c.416-11T>C
|
|
|
|
NM_014946.4(SPAST):c.416-16A>T
|
|
|
|
NM_014946.4(SPAST):c.416-17_416-15del
|
|
|
|
NM_014946.4(SPAST):c.419G>T (p.Gly140Val)
|
|
|
|
NM_014946.4(SPAST):c.421C>G (p.Gln141Glu)
|
|
|
|
NM_014946.4(SPAST):c.422_425del (p.Gln141fs)
|
rs1553399472
|
|
|
NM_014946.4(SPAST):c.424_425del (p.Lys142fs)
|
|
|
|
NM_014946.4(SPAST):c.426G>A (p.Lys142=)
|
rs2148708873
|
|
|
NM_014946.4(SPAST):c.426G>C (p.Lys142Asn)
|
|
|
|
NM_014946.4(SPAST):c.427G>T (p.Glu143Ter)
|
|
|
|
NM_014946.4(SPAST):c.430C>T (p.Gln144Ter)
|
rs1553399476
|
|
|
NM_014946.4(SPAST):c.435del (p.Val146fs)
|
|
|
|
NM_014946.4(SPAST):c.443G>A (p.Trp148Ter)
|
rs1573068995
|
|
|
NM_014946.4(SPAST):c.443delinsTAC (p.Trp148fs)
|
|
|
|
NM_014946.4(SPAST):c.444G>A (p.Trp148Ter)
|
rs1553399493
|
|
|
NM_014946.4(SPAST):c.447T>A (p.Tyr149Ter)
|
rs1553399498
|
|
|
NM_014946.4(SPAST):c.451_454del (p.Lys151fs)
|
rs1677532829
|
|
|
NM_014946.4(SPAST):c.453A>G (p.Lys151=)
|
|
|
|
NM_014946.4(SPAST):c.453dup (p.Gly152fs)
|
rs587777753
|
|
|
NM_014946.4(SPAST):c.465del (p.Glu155fs)
|
rs863224514
|
|
|
NM_014946.4(SPAST):c.469G>T (p.Glu157Ter)
|
|
|
|
NM_014946.4(SPAST):c.474dup (p.Gly159fs)
|
rs1677533628
|
|
|
NM_014946.4(SPAST):c.476G>C (p.Gly159Ala)
|
|
|
|
NM_014946.4(SPAST):c.487dup (p.Ile163fs)
|
|
|
|
NM_014946.4(SPAST):c.493A>G (p.Thr165Ala)
|
rs770141489
|
|
|
NM_014946.4(SPAST):c.494C>T (p.Thr165Ile)
|
|
|
|
NM_014946.4(SPAST):c.494del (p.Thr165fs)
|
rs2148708949
|
|
|
NM_014946.4(SPAST):c.502+10T>C
|
|
|
|
NM_014946.4(SPAST):c.502+8T>C
|
|
|
|
NM_014946.4(SPAST):c.502+9G>A
|
rs1677536089
|
|
|
NM_014946.4(SPAST):c.502+9del
|
|
|
|
NM_014946.4(SPAST):c.503-19A>G
|
|
|
|
NM_014946.4(SPAST):c.503-8dup
|
|
|
|
NM_014946.4(SPAST):c.508C>T (p.Gln170Ter)
|
rs886039695
|
|
|
NM_014946.4(SPAST):c.511T>C (p.Cys171Arg)
|
rs746073001
|
|
|
NM_014946.4(SPAST):c.514G>T (p.Glu172Ter)
|
rs2148710558
|
|
|
NM_014946.4(SPAST):c.519A>G (p.Arg173=)
|
rs1677627735
|
|
|
NM_014946.4(SPAST):c.519dup (p.Ala174fs)
|
|
|
|
NM_014946.4(SPAST):c.521del (p.Ala174fs)
|
rs1677627829
|
|
|
NM_014946.4(SPAST):c.523A>G (p.Arg175Gly)
|
|
|
|
NM_014946.4(SPAST):c.526C>A (p.Arg176Ser)
|
rs775364035
|
|
|
NM_014946.4(SPAST):c.526C>T (p.Arg176Cys)
|
|
|
|
NM_014946.4(SPAST):c.528C>G (p.Arg176=)
|
|
|
|
NM_014946.4(SPAST):c.532C>T (p.Gln178Ter)
|
rs1677628649
|
|
|
NM_014946.4(SPAST):c.55C>G (p.Pro19Ala)
|
|
|
|
NM_014946.4(SPAST):c.562del (p.Ala188fs)
|
rs1553400002
|
|
|
NM_014946.4(SPAST):c.577C>T (p.Gln193Ter)
|
rs1553400013
|
|
|
NM_014946.4(SPAST):c.57G>C (p.Pro19=)
|
|
|
|
NM_014946.4(SPAST):c.580del (p.Leu194fs)
|
rs2148710617
|
|
|
NM_014946.4(SPAST):c.586+14T>C
|
|
|
|
NM_014946.4(SPAST):c.586+3A>G
|
rs1677631075
|
|
|
NM_014946.4(SPAST):c.586+7A>G
|
|
|
|
NM_014946.4(SPAST):c.586+9_586+12del
|
rs554544808
|
|
|
NM_014946.4(SPAST):c.587-14T>G
|
|
|
|
NM_014946.4(SPAST):c.587-17C>T
|
|
|
|
NM_014946.4(SPAST):c.587-4A>G
|
rs1400181900
|
|
|
NM_014946.4(SPAST):c.589A>G (p.Lys197Glu)
|
|
|
|
NM_014946.4(SPAST):c.601G>A (p.Val201Ile)
|
|
|
|
NM_014946.4(SPAST):c.606G>A (p.Leu202=)
|
|
|
|
NM_014946.4(SPAST):c.609A>G (p.Pro203=)
|
|
|
|
NM_014946.4(SPAST):c.60G>T (p.Val20=)
|
rs752272987
|
|
|
NM_014946.4(SPAST):c.638A>G (p.Asn213Ser)
|
|
|
|
NM_014946.4(SPAST):c.642C>A (p.Asp214Glu)
|
rs1678016729
|
|
|
NM_014946.4(SPAST):c.644G>A (p.Ser215Asn)
|
rs774722817
|
|
|
NM_014946.4(SPAST):c.651C>A (p.Asn217Lys)
|
|
|
|
NM_014946.4(SPAST):c.659G>A (p.Cys220Tyr)
|
|
|
|
NM_014946.4(SPAST):c.65C>A (p.Pro22His)
|
|
|
|
NM_014946.4(SPAST):c.660C>G (p.Cys220Trp)
|
|
|
|
NM_014946.4(SPAST):c.662G>A (p.Arg221His)
|
|
|
|
NM_014946.4(SPAST):c.662G>T (p.Arg221Leu)
|
|
|
|
NM_014946.4(SPAST):c.664A>G (p.Asn222Asp)
|
rs1354823029
|
|
|
NM_014946.4(SPAST):c.664A>T (p.Asn222Tyr)
|
|
|
|
NM_014946.4(SPAST):c.665A>G (p.Asn222Ser)
|
|
|
|
NM_014946.4(SPAST):c.67A>G (p.Arg23Gly)
|
|
|
|
NM_014946.4(SPAST):c.67_85dup (p.Leu29fs)
|
rs1676388641
|
|
|
NM_014946.4(SPAST):c.682+20C>T
|
|
|
|
NM_014946.4(SPAST):c.683-1277_870+399del
|
|
|
|
NM_014946.4(SPAST):c.683-12T>C
|
|
|
|
NM_014946.4(SPAST):c.683-13T>C
|
|
|
|
NM_014946.4(SPAST):c.683-15C>G
|
rs1678752312
|
|
|
NM_014946.4(SPAST):c.683-16A>G
|
|
|
|
NM_014946.4(SPAST):c.683-3C>G
|
|
|
|
NM_014946.4(SPAST):c.683-7033_1004+30del
|
|
|
|
NM_014946.4(SPAST):c.685A>G (p.Ser229Gly)
|
|
|
|
NM_014946.4(SPAST):c.68G>A (p.Arg23Lys)
|
rs558882317
|
|
|
NM_014946.4(SPAST):c.690_1099-4223del
|
|
|
|
NM_014946.4(SPAST):c.695_717dup (p.Thr240delinsPheGlnLysGluLysThrProTer)
|
rs1678753568
|
|
|
NM_014946.4(SPAST):c.698del (p.Pro233fs)
|
rs1573118105
|
|
|
NM_014946.4(SPAST):c.6_7del (p.Pro4fs)
|
rs1553394366
|
|
|
NM_014946.4(SPAST):c.70C>T (p.Pro24Ser)
|
|
|
|
NM_014946.4(SPAST):c.722A>G (p.His241Arg)
|
|
|
|
NM_014946.4(SPAST):c.724_725del (p.His241_Thr242insTer)
|
rs1558323426
|
|
|
NM_014946.4(SPAST):c.72_90dup (p.Pro31fs)
|
rs886800078
|
|
|
NM_014946.4(SPAST):c.734C>G (p.Ser245Ter)
|
rs1553314896
|
|
|
NM_014946.4(SPAST):c.73C>G (p.Pro25Ala)
|
|
|
|
NM_014946.4(SPAST):c.740C>G (p.Pro247Arg)
|
rs1316217696
|
|
|
NM_014946.4(SPAST):c.746C>G (p.Ser249Ter)
|
rs1553314902
|
|
|
NM_014946.4(SPAST):c.746dup (p.Thr251fs)
|
rs2148732927
|
|
|
NM_014946.4(SPAST):c.748A>T (p.Lys250Ter)
|
rs1318536893
|
|
|
NM_014946.4(SPAST):c.751dup (p.Thr251fs)
|
|
|
|
NM_014946.4(SPAST):c.753del (p.Val252fs)
|
rs1678756927
|
|
|
NM_014946.4(SPAST):c.757dup (p.Met253fs)
|
rs2148732951
|
|
|
NM_014946.4(SPAST):c.759G>A (p.Met253Ile)
|
|
|
|
NM_014946.4(SPAST):c.75G>A (p.Pro25=)
|
|
|
|
NM_014946.4(SPAST):c.760A>C (p.Lys254Gln)
|
|
|
|
NM_014946.4(SPAST):c.763dup (p.Thr255fs)
|
|
|
|
NM_014946.4(SPAST):c.768A>G (p.Gly256=)
|
rs2148732966
|
|
|
NM_014946.4(SPAST):c.768A>T (p.Gly256=)
|
|
|
|
NM_014946.4(SPAST):c.782C>A (p.Ser261Ter)
|
rs768241184
|
|
|
NM_014946.4(SPAST):c.782C>G (p.Ser261Ter)
|
|
|
|
NM_014946.4(SPAST):c.786C>T (p.Gly262=)
|
|
|
|
NM_014946.4(SPAST):c.78C>A (p.Pro26=)
|
|
|
|
NM_014946.4(SPAST):c.78C>T (p.Pro26=)
|
|
|
|
NM_014946.4(SPAST):c.796G>A (p.Ala266Thr)
|
|
|
|
NM_014946.4(SPAST):c.79C>A (p.Pro27Thr)
|
|
|
|
NM_014946.4(SPAST):c.800del (p.Pro267fs)
|
|
|
|
NM_014946.4(SPAST):c.803_806dup (p.Tyr269Ter)
|
|
|
|
NM_014946.4(SPAST):c.806dup (p.Tyr269Ter)
|
|
|
|
NM_014946.4(SPAST):c.807C>G (p.Tyr269Ter)
|
rs771388402
|
|
|
NM_014946.4(SPAST):c.808A>C (p.Ser270Arg)
|
|
|
|
NM_014946.4(SPAST):c.808A>G (p.Ser270Gly)
|
|
|
|
NM_014946.4(SPAST):c.80C>G (p.Pro27Arg)
|
|
|
|
NM_014946.4(SPAST):c.80_98dup (p.Pro34fs)
|
|
|
|
NM_014946.4(SPAST):c.811_817del (p.Gly271fs)
|
|
|
|
NM_014946.4(SPAST):c.816A>C (p.Leu272Phe)
|
|
|
|
NM_014946.4(SPAST):c.818C>A (p.Ser273Tyr)
|
|
|
|
NM_014946.4(SPAST):c.819_829del (p.Met274fs)
|
|
|
|
NM_014946.4(SPAST):c.820A>G (p.Met274Val)
|
|
|
|
NM_014946.4(SPAST):c.830G>T (p.Gly277Val)
|
rs1678761963
|
|
|
NM_014946.4(SPAST):c.830del (p.Gly277fs)
|
|
|
|
NM_014946.4(SPAST):c.832G>C (p.Val278Leu)
|
rs369908571
|
|
|
NM_014946.4(SPAST):c.838C>T (p.Gln280Ter)
|
rs1553314948
|
|
|
NM_014946.4(SPAST):c.839A>C (p.Gln280Pro)
|
|
|
|
NM_014946.4(SPAST):c.839_840del (p.Gln280fs)
|
rs1678762730
|
|
|
NM_014946.4(SPAST):c.83G>C (p.Cys28Ser)
|
rs1676390484
|
|
|
NM_014946.4(SPAST):c.842del (p.Gly281fs)
|
|
|
|
NM_014946.4(SPAST):c.843_846dup (p.Gly283fs)
|
rs2148733110
|
|
|
NM_014946.4(SPAST):c.845C>G (p.Ser282Cys)
|
|
|
|
NM_014946.4(SPAST):c.853G>A (p.Ala285Thr)
|
|
|
|
NM_014946.4(SPAST):c.857del (p.Pro286fs)
|
|
|
|
NM_014946.4(SPAST):c.863C>G (p.Thr288Ser)
|
|
|
|
NM_014946.4(SPAST):c.863C>T (p.Thr288Ile)
|
rs148680726
|
|
|
NM_014946.4(SPAST):c.867_868del (p.His289fs)
|
rs1558323659
|
|
|
NM_014946.4(SPAST):c.869A>G (p.Lys290Arg)
|
rs2148733158
|
|
|
NM_014946.4(SPAST):c.870+1G>A
|
rs1553314978
|
|
|
NM_014946.4(SPAST):c.870+1G>T
|
rs1553314978
|
|
|
NM_014946.4(SPAST):c.870+2T>C
|
|
|
|
NM_014946.4(SPAST):c.870+3A>G
|
rs1553314979
|
|
|
NM_014946.4(SPAST):c.870G>A (p.Lys290=)
|
rs1421791559
|
|
|
NM_014946.4(SPAST):c.870G>C (p.Lys290Asn)
|
|
|
|
NM_014946.4(SPAST):c.871-12G>A
|
rs764275621
|
|
|
NM_014946.4(SPAST):c.871-17del
|
|
|
|
NM_014946.4(SPAST):c.871-1G>A
|
rs1057524526
|
|
|
NM_014946.4(SPAST):c.871-1G>C
|
rs1057524526
|
|
|
NM_014946.4(SPAST):c.871-29_871-9del
|
|
|
|
NM_014946.4(SPAST):c.871-368_1098+4142del
|
|
|
|
NM_014946.4(SPAST):c.871G>T (p.Gly291Cys)
|
|
|
|
NM_014946.4(SPAST):c.872G>T (p.Gly291Val)
|
|
|
|
NM_014946.4(SPAST):c.872del
|
rs1678801811
|
|
|
NM_014946.4(SPAST):c.87G>A (p.Leu29=)
|
|
|
|
NM_014946.4(SPAST):c.883dup (p.Thr295fs)
|
rs1553315181
|
|
|
NM_014946.4(SPAST):c.899_900insTT (p.Lys300fs)
|
rs1678803263
|
|
|
NM_014946.4(SPAST):c.902_903dup (p.Ser302fs)
|
rs2148734025
|
|
|
NM_014946.4(SPAST):c.906dup (p.Thr303fs)
|
|
|
|
NM_014946.4(SPAST):c.909C>T (p.Thr303=)
|
|
|
|
NM_014946.4(SPAST):c.90C>G (p.Ala30=)
|
|
|
|
NM_014946.4(SPAST):c.910C>G (p.Pro304Ala)
|
|
|
|
NM_014946.4(SPAST):c.911C>G (p.Pro304Arg)
|
|
|
|
NM_014946.4(SPAST):c.911del (p.Pro304fs)
|
|
|
|
NM_014946.4(SPAST):c.913A>G (p.Thr305Ala)
|
|
|
|
NM_014946.4(SPAST):c.915A>G (p.Thr305=)
|
|
|
|
NM_014946.4(SPAST):c.916A>G (p.Thr306Ala)
|
|
|
|
NM_014946.4(SPAST):c.922A>C (p.Thr308Pro)
|
|
|
|
NM_014946.4(SPAST):c.923_927del (p.Thr308fs)
|
rs1678805683
|
|
|
NM_014946.4(SPAST):c.924dup (p.Arg309fs)
|
rs1678805865
|
|
|
NM_014946.4(SPAST):c.925del (p.Arg309fs)
|
rs863224515
|
|
|
NM_014946.4(SPAST):c.928A>T (p.Lys310Ter)
|
rs1678806430
|
|
|
NM_014946.4(SPAST):c.936dup (p.Asp313fs)
|
rs2148734097
|
|
|
NM_014946.4(SPAST):c.939_943del (p.Asp313fs)
|
|
|
|
NM_014946.4(SPAST):c.93dup (p.Ala32fs)
|
rs1676391139
|
|
|
NM_014946.4(SPAST):c.942dup (p.Lys315fs)
|
|
|
|
NM_014946.4(SPAST):c.945del (p.Asn316fs)
|
|
|
|
NM_014946.4(SPAST):c.949_950insA (p.Phe317fs)
|
|
|
|
NM_014946.4(SPAST):c.950T>G (p.Phe317Cys)
|
rs759832933
|
|
|
NM_014946.4(SPAST):c.955A>T (p.Asn319Tyr)
|
rs1678808584
|
|
|
NM_014946.4(SPAST):c.956dup (p.Asn319fs)
|
|
|
|
NM_014946.4(SPAST):c.962_974del (p.Asp321fs)
|
rs1553315223
|
|
|
NM_014946.4(SPAST):c.966C>A (p.Ser322Arg)
|
|
|
|
NM_014946.4(SPAST):c.966del (p.Ser322fs)
|
|
|
|
NM_014946.4(SPAST):c.968A>G (p.Asn323Ser)
|
|
|
|
NM_014946.4(SPAST):c.970del (p.Ala325fs)
|
rs1678809494
|
|
|
NM_014946.4(SPAST):c.975dup (p.Asn326Ter)
|
rs1678809927
|
|
|
NM_014946.4(SPAST):c.977dup (p.Asn326fs)
|
rs1678810039
|
|
|
NM_014946.4(SPAST):c.97C>T (p.Pro33Ser)
|
|
|
|
NM_014946.4(SPAST):c.97_105del (p.Pro33_Ala35del)
|
|
|
|
NM_014946.4(SPAST):c.982dup (p.Ile328fs)
|
|
|
|
NM_014946.4(SPAST):c.983T>C (p.Ile328Thr)
|
rs2148734189
|
|
|
NM_014946.4(SPAST):c.985A>G (p.Met329Val)
|
rs1314415557
|
|
|
NM_014946.4(SPAST):c.985dup (p.Met329fs)
|
|
|
|
NM_014946.4(SPAST):c.987G>A (p.Met329Ile)
|
rs1553315231
|
|
|
NM_014946.4(SPAST):c.99T>A (p.Pro33=)
|
rs1573027124
|
|
|
NM_015046.7(SETX):c.178-6C>A
|
rs2131558760
|
|
|
NM_015046.7(SETX):c.1840A>G (p.Ile614Val)
|
rs1318709540
|
|
|
NM_015046.7(SETX):c.3031G>A (p.Gly1011Arg)
|
rs1564542862
|
|
|
NM_015046.7(SETX):c.3057TGA[7] (p.Asp1024dup)
|
rs572772837
|
|
|
NM_015046.7(SETX):c.3981A>G (p.Lys1327=)
|
rs1308547907
|
|
|
NM_015046.7(SETX):c.43A>G (p.Ile15Val)
|
rs151040199
|
|
|
NM_015046.7(SETX):c.5375-18CTT[2]
|
rs201317659
|
|
|
NM_015046.7(SETX):c.5617G>A (p.Glu1873Lys)
|
rs775692275
|
|
|
NM_015046.7(SETX):c.60C>T (p.Arg20=)
|
rs553346505
|
|
|
NM_015046.7(SETX):c.6187A>G (p.Ser2063Gly)
|
rs1844076700
|
|
|
NM_015046.7(SETX):c.667C>A (p.Leu223Ile)
|
rs774068411
|
|
|
NM_015046.7(SETX):c.7143_7144insTTTCG (p.Lys2382fs)
|
rs2131148501
|
|
|
NM_015046.7(SETX):c.7200-10dup
|
rs531485265
|
|
|
NM_015046.7(SETX):c.7554T>G (p.Ile2518Met)
|
rs750466786
|
|
|
NM_015087.4(SPART):c.-249_-248TG[1]
|
rs886050138
|
|
|
NM_015087.5(SPART):c.*1165A>C
|
rs552064790
|
|
|
NM_015087.5(SPART):c.*1624C>T
|
rs149048779
|
|
|
NM_015087.5(SPART):c.*1645C>T
|
rs538969812
|
|
|
NM_015087.5(SPART):c.*1686G>A
|
rs932843231
|
|
|
NM_015087.5(SPART):c.*1908A>G
|
rs1011386098
|
|
|
NM_015087.5(SPART):c.*2071T>C
|
rs929009865
|
|
|
NM_015087.5(SPART):c.*2127_*2130del
|
rs150662490
|
|
|
NM_015087.5(SPART):c.*2150_*2154del
|
rs747194340
|
|
|
NM_015087.5(SPART):c.*2204C>T
|
rs564614485
|
|
|
NM_015087.5(SPART):c.*2456T>C
|
rs1880019584
|
|
|
NM_015087.5(SPART):c.*2717C>A
|
rs1879999493
|
|
|
NM_015087.5(SPART):c.*699GTATT[1]
|
rs886050136
|
|
|
NM_015087.5(SPART):c.-33C>T
|
rs886050137
|
|
|
NM_015087.5(SPART):c.1110del (p.Lys370fs)
|
rs1060499524
|
|
|
NM_015087.5(SPART):c.119A>C (p.Glu40Ala)
|
|
|
|
NM_015087.5(SPART):c.1227A>G (p.Pro409=)
|
rs1555261871
|
|
|
NM_015087.5(SPART):c.1294del (p.Ser432fs)
|
rs2137335988
|
|
|
NM_015087.5(SPART):c.1309G>T (p.Gly437Cys)
|
rs139819321
|
|
|
NM_015087.5(SPART):c.1324G>C (p.Ala442Pro)
|
|
|
|
NM_015087.5(SPART):c.1450dup (p.Thr484fs)
|
rs730882198
|
|
|
NM_015087.5(SPART):c.1470C>T (p.Val490=)
|
rs750472401
|
|
|
NM_015087.5(SPART):c.1474_1477del (p.Gln492fs)
|
rs777288668
|
|
|
NM_015087.5(SPART):c.1624G>A (p.Ala542Thr)
|
rs746153229
|
|
|
NM_015087.5(SPART):c.1643-2A>G
|
|
|
|
NM_015087.5(SPART):c.1795G>A (p.Val599Ile)
|
rs150163770
|
|
|
NM_015087.5(SPART):c.265C>T (p.Arg89Cys)
|
rs369491741
|
|
|
NM_015087.5(SPART):c.389A>T (p.Gln130Leu)
|
|
|
|
NM_015087.5(SPART):c.450A>G (p.Ala150=)
|
rs769396462
|
|
|
NM_015087.5(SPART):c.475_476del (p.Leu159fs)
|
rs1480709252
|
|
|
NM_015087.5(SPART):c.592G>T (p.Gly198Ter)
|
rs2137548824
|
|
|
NM_015087.5(SPART):c.686A>G (p.Gln229Arg)
|
rs570884857
|
|
|
NM_015087.5(SPART):c.696dup (p.Val233fs)
|
|
|
|
NM_015087.5(SPART):c.810+6C>T
|
rs1883821175
|
|
|
NM_015087.5(SPART):c.894_898del (p.Met299fs)
|
rs2137515973
|
|
|
NM_015087.5(SPART):c.918T>A (p.Phe306Leu)
|
rs2137515774
|
|
|
NM_015087.5(SPART):c.988A>G (p.Met330Val)
|
rs1399213398
|
|
|
NM_015161.3(ARL6IP1):c.112C>T (p.Arg38Ter)
|
|
|
|
NM_015161.3(ARL6IP1):c.113G>A (p.Arg38Gln)
|
|
|
|
NM_015161.3(ARL6IP1):c.168T>C (p.Phe56=)
|
|
|
|
NM_015161.3(ARL6IP1):c.170+15A>G
|
|
|
|
NM_015161.3(ARL6IP1):c.171-9T>A
|
|
|
|
NM_015161.3(ARL6IP1):c.17A>G (p.Asn6Ser)
|
|
|
|
NM_015161.3(ARL6IP1):c.190C>G (p.Pro64Ala)
|
|
|
|
NM_015161.3(ARL6IP1):c.207C>T (p.Gly69=)
|
|
|
|
NM_015161.3(ARL6IP1):c.260T>C (p.Leu87Pro)
|
|
|
|
NM_015161.3(ARL6IP1):c.263C>T (p.Ala88Val)
|
|
|
|
NM_015161.3(ARL6IP1):c.26C>G (p.Thr9Ser)
|
rs747185659
|
|
|
NM_015161.3(ARL6IP1):c.291-18G>A
|
|
|
|
NM_015161.3(ARL6IP1):c.306G>A (p.Gln102=)
|
|
|
|
NM_015161.3(ARL6IP1):c.324T>G (p.Ile108Met)
|
|
|
|
NM_015161.3(ARL6IP1):c.345T>C (p.Thr115=)
|
rs758452451
|
|
|
NM_015161.3(ARL6IP1):c.347G>A (p.Arg116Gln)
|
|
|
|
NM_015161.3(ARL6IP1):c.36+11G>C
|
|
|
|
NM_015161.3(ARL6IP1):c.36+13dup
|
rs2141875992
|
|
|
NM_015161.3(ARL6IP1):c.36+19T>A
|
|
|
|
NM_015161.3(ARL6IP1):c.36+20C>T
|
|
|
|
NM_015161.3(ARL6IP1):c.37-20T>G
|
|
|
|
NM_015161.3(ARL6IP1):c.390G>A (p.Lys130=)
|
|
|
|
NM_015161.3(ARL6IP1):c.391G>A (p.Glu131Lys)
|
|
|
|
NM_015161.3(ARL6IP1):c.408+12G>A
|
|
|
|
NM_015161.3(ARL6IP1):c.408+17G>T
|
rs202235339
|
|
|
NM_015161.3(ARL6IP1):c.408+4C>G
|
rs1596945553
|
|
|
NM_015161.3(ARL6IP1):c.42A>G (p.Ala14=)
|
|
|
|
NM_015161.3(ARL6IP1):c.430T>C (p.Ser144Pro)
|
|
|
|
NM_015161.3(ARL6IP1):c.433C>G (p.Leu145Val)
|
|
|
|
NM_015161.3(ARL6IP1):c.435T>G (p.Leu145=)
|
|
|
|
NM_015161.3(ARL6IP1):c.440C>T (p.Ala147Val)
|
|
|
|
NM_015161.3(ARL6IP1):c.489G>C (p.Leu163=)
|
|
|
|
NM_015161.3(ARL6IP1):c.493+5G>A
|
|
|
|
NM_015161.3(ARL6IP1):c.494-14T>C
|
|
|
|
NM_015161.3(ARL6IP1):c.494-17T>G
|
|
|
|
NM_015161.3(ARL6IP1):c.494-17dup
|
rs748985230
|
|
|
NM_015161.3(ARL6IP1):c.494-18G>T
|
|
|
|
NM_015161.3(ARL6IP1):c.494-9del
|
rs748985230
|
|
|
NM_015161.3(ARL6IP1):c.505C>T (p.Leu169=)
|
|
|
|
NM_015161.3(ARL6IP1):c.510G>A (p.Leu170=)
|
|
|
|
NM_015161.3(ARL6IP1):c.555A>G (p.Gly185=)
|
|
|
|
NM_015161.3(ARL6IP1):c.577_580del (p.Lys193fs)
|
rs879255572
|
|
|
NM_015161.3(ARL6IP1):c.6G>A (p.Ala2=)
|
rs1341666694
|
|
|
NM_015161.3(ARL6IP1):c.92T>C (p.Leu31Pro)
|
|
|
|
NM_015214.2(DDHD2):c.1249_1891del
|
|
|
|
NM_015214.3(DDHD2):c.1031G>A (p.Gly344Asp)
|
|
|
|
NM_015214.3(DDHD2):c.1039A>G (p.Ile347Val)
|
|
|
|
NM_015214.3(DDHD2):c.1057+5C>G
|
rs886037659
|
|
|
NM_015214.3(DDHD2):c.1057+9dup
|
|
|
|
NM_015214.3(DDHD2):c.1058-16_1058-14del
|
|
|
|
NM_015214.3(DDHD2):c.1058-17T>C
|
|
|
|
NM_015214.3(DDHD2):c.105C>G (p.Ser35Arg)
|
rs1358332959
|
|
|
NM_015214.3(DDHD2):c.1061C>T (p.Ser354Leu)
|
rs1585731793
|
|
|
NM_015214.3(DDHD2):c.1067T>C (p.Ile356Thr)
|
|
|
|
NM_015214.3(DDHD2):c.1067T>G (p.Ile356Arg)
|
rs1320383562
|
|
|
NM_015214.3(DDHD2):c.1126-2A>G
|
rs2130822605
|
|
|
NM_015214.3(DDHD2):c.1154G>A (p.Gly385Glu)
|
rs1805760221
|
|
|
NM_015214.3(DDHD2):c.1155A>G (p.Gly385=)
|
|
|
|
NM_015214.3(DDHD2):c.1159A>G (p.Thr387Ala)
|
|
|
|
NM_015214.3(DDHD2):c.1168C>A (p.Leu390Ile)
|
|
|
|
NM_015214.3(DDHD2):c.1176A>G (p.Glu392=)
|
|
|
|
NM_015214.3(DDHD2):c.1217_1218del (p.Ile405_Phe406insTer)
|
|
|
|
NM_015214.3(DDHD2):c.1249-20A>G
|
|
|
|
NM_015214.3(DDHD2):c.1299A>G (p.Pro433=)
|
|
|
|
NM_015214.3(DDHD2):c.1305G>A (p.Lys435=)
|
rs372509717
|
|
|
NM_015214.3(DDHD2):c.1305G>C (p.Lys435Asn)
|
|
|
|
NM_015214.3(DDHD2):c.1306A>C (p.Lys436Gln)
|
|
|
|
NM_015214.3(DDHD2):c.1317C>T (p.Asn439=)
|
rs1183091304
|
|
|
NM_015214.3(DDHD2):c.1342A>G (p.Met448Val)
|
|
|
|
NM_015214.3(DDHD2):c.1344+15C>T
|
|
|
|
NM_015214.3(DDHD2):c.1345-18C>T
|
|
|
|
NM_015214.3(DDHD2):c.1345-3T>C
|
|
|
|
NM_015214.3(DDHD2):c.1359_1364del (p.Ala454_Pro455del)
|
|
|
|
NM_015214.3(DDHD2):c.1359_1365delinsC (p.Ala454_Pro455del)
|
rs1585749613
|
|
|
NM_015214.3(DDHD2):c.1362C>G (p.Ala454=)
|
|
|
|
NM_015214.3(DDHD2):c.1365G>C (p.Pro455=)
|
|
|
|
NM_015214.3(DDHD2):c.1386dup (p.Ile463fs)
|
rs867389476
|
|
|
NM_015214.3(DDHD2):c.1387A>G (p.Ile463Val)
|
|
|
|
NM_015214.3(DDHD2):c.1396G>T (p.Glu466Ter)
|
|
|
|
NM_015214.3(DDHD2):c.1402G>A (p.Glu468Lys)
|
|
|
|
NM_015214.3(DDHD2):c.1404G>A (p.Glu468=)
|
|
|
|
NM_015214.3(DDHD2):c.1415G>T (p.Ser472Ile)
|
|
|
|
NM_015214.3(DDHD2):c.1424C>T (p.Thr475Ile)
|
rs2130847879
|
|
|
NM_015214.3(DDHD2):c.1455T>C (p.Ile485=)
|
|
|
|
NM_015214.3(DDHD2):c.1461+6T>C
|
|
|
|
NM_015214.3(DDHD2):c.1462-10C>T
|
|
|
|
NM_015214.3(DDHD2):c.1462-19T>C
|
|
|
|
NM_015214.3(DDHD2):c.1462-7del
|
|
|
|
NM_015214.3(DDHD2):c.1481G>A (p.Arg494Gln)
|
|
|
|
NM_015214.3(DDHD2):c.1499A>G (p.Glu500Gly)
|
|
|
|
NM_015214.3(DDHD2):c.1514T>G (p.Phe505Cys)
|
rs1396002402
|
|
|
NM_015214.3(DDHD2):c.1518A>T (p.Gly506=)
|
|
|
|
NM_015214.3(DDHD2):c.1528G>A (p.Gly510Arg)
|
rs1563311817
|
|
|
NM_015214.3(DDHD2):c.1529G>A (p.Gly510Glu)
|
rs2130848885
|
|
|
NM_015214.3(DDHD2):c.1587G>C (p.Thr529=)
|
rs141814412
|
|
|
NM_015214.3(DDHD2):c.1604A>G (p.Asn535Ser)
|
rs777500657
|
|
|
NM_015214.3(DDHD2):c.1617+1G>T
|
|
|
|
NM_015214.3(DDHD2):c.1618-11T>C
|
|
|
|
NM_015214.3(DDHD2):c.1618-6A>G
|
rs745477461
|
|
|
NM_015214.3(DDHD2):c.1618-9C>T
|
rs1189542712
|
|
|
NM_015214.3(DDHD2):c.1651G>C (p.Val551Leu)
|
|
|
|
NM_015214.3(DDHD2):c.1671T>C (p.Phe557=)
|
|
|
|
NM_015214.3(DDHD2):c.1673A>G (p.Glu558Gly)
|
|
|
|
NM_015214.3(DDHD2):c.1689A>G (p.Pro563=)
|
|
|
|
NM_015214.3(DDHD2):c.1720+18A>C
|
|
|
|
NM_015214.3(DDHD2):c.1721-11A>G
|
|
|
|
NM_015214.3(DDHD2):c.1721-9A>G
|
|
|
|
NM_015214.3(DDHD2):c.1770G>A (p.Leu590=)
|
|
|
|
NM_015214.3(DDHD2):c.1773A>G (p.Leu591=)
|
|
|
|
NM_015214.3(DDHD2):c.1783C>A (p.Arg595=)
|
|
|
|
NM_015214.3(DDHD2):c.1784G>A (p.Arg595Gln)
|
rs754698552
|
|
|
NM_015214.3(DDHD2):c.1803del (p.Phe601fs)
|
rs1312739762
|
|
|
NM_015214.3(DDHD2):c.1803dup (p.Thr602fs)
|
rs1312739762
|
|
|
NM_015214.3(DDHD2):c.1887_1890dup (p.Asp631Ter)
|
|
|
|
NM_015214.3(DDHD2):c.1891+19A>G
|
|
|
|
NM_015214.3(DDHD2):c.1891+20T>C
|
|
|
|
NM_015214.3(DDHD2):c.1892-16G>T
|
|
|
|
NM_015214.3(DDHD2):c.1901delinsTCTGTGGCAGTTAA (p.Thr634delinsIleCysGlySerTer)
|
|
|
|
NM_015214.3(DDHD2):c.1910C>T (p.Thr637Ile)
|
rs2130855471
|
|
|
NM_015214.3(DDHD2):c.196C>T (p.Gln66Ter)
|
|
|
|
NM_015214.3(DDHD2):c.1982_1983del (p.Tyr661fs)
|
rs398122837
|
|
|
NM_015214.3(DDHD2):c.2004T>C (p.Ile668=)
|
rs2130855859
|
|
|
NM_015214.3(DDHD2):c.2054+10_2054+12del
|
rs765220738
|
|
|
NM_015214.3(DDHD2):c.2055-17A>T
|
|
|
|
NM_015214.3(DDHD2):c.2055-2A>G
|
rs1806867348
|
|
|
NM_015214.3(DDHD2):c.2055-6_2055-5del
|
rs2130888276
|
|
|
NM_015214.3(DDHD2):c.2057del (p.Glu686fs)
|
rs1585774873
|
|
|
NM_015214.3(DDHD2):c.2070A>G (p.Thr690=)
|
|
|
|
NM_015214.3(DDHD2):c.2072T>C (p.Val691Ala)
|
|
|
|
NM_015214.3(DDHD2):c.2079C>T (p.Leu693=)
|
|
|
|
NM_015214.3(DDHD2):c.2096A>G (p.Tyr699Cys)
|
|
|
|
NM_015214.3(DDHD2):c.2124G>A (p.Gln708=)
|
rs1585775142
|
|
|
NM_015214.3(DDHD2):c.220+18C>T
|
rs2130733689
|
|
|
NM_015214.3(DDHD2):c.220+20T>G
|
|
|
|
NM_015214.3(DDHD2):c.221-19C>T
|
|
|
|
NM_015214.3(DDHD2):c.221-1_224del
|
rs759522859
|
|
|
NM_015214.3(DDHD2):c.226_227delinsTA (p.Gly76Tyr)
|
rs797045521
|
|
|
NM_015214.3(DDHD2):c.241G>A (p.Val81Ile)
|
rs1804537899
|
|
|
NM_015214.3(DDHD2):c.279G>T (p.Leu93Phe)
|
rs1003263082
|
|
|
NM_015214.3(DDHD2):c.280G>T (p.Gly94Trp)
|
rs202216406
|
|
|
NM_015214.3(DDHD2):c.296A>C (p.Tyr99Ser)
|
|
|
|
NM_015214.3(DDHD2):c.304T>C (p.Tyr102His)
|
|
|
|
NM_015214.3(DDHD2):c.30G>C (p.Gln10His)
|
|
|
|
NM_015214.3(DDHD2):c.321A>G (p.Ala107=)
|
|
|
|
NM_015214.3(DDHD2):c.335G>T (p.Arg112Leu)
|
|
|
|
NM_015214.3(DDHD2):c.338G>T (p.Cys113Phe)
|
|
|
|
NM_015214.3(DDHD2):c.342G>A (p.Thr114=)
|
rs774309381
|
|
|
NM_015214.3(DDHD2):c.344G>A (p.Trp115Ter)
|
|
|
|
NM_015214.3(DDHD2):c.368A>G (p.Asn123Ser)
|
|
|
|
NM_015214.3(DDHD2):c.371del (p.Lys124fs)
|
rs1475369039
|
|
|
NM_015214.3(DDHD2):c.386C>T (p.Ser129Leu)
|
|
|
|
NM_015214.3(DDHD2):c.390G>A (p.Glu130=)
|
|
|
|
NM_015214.3(DDHD2):c.411+21_411+22del
|
|
|
|
NM_015214.3(DDHD2):c.411+4T>C
|
|
|
|
NM_015214.3(DDHD2):c.412-11T>G
|
|
|
|
NM_015214.3(DDHD2):c.428C>T (p.Ala143Val)
|
rs1554512152
|
|
|
NM_015214.3(DDHD2):c.453G>A (p.Lys151=)
|
|
|
|
NM_015214.3(DDHD2):c.453_454del (p.Lys152fs)
|
|
|
|
NM_015214.3(DDHD2):c.455A>G (p.Lys152Arg)
|
|
|
|
NM_015214.3(DDHD2):c.467C>G (p.Pro156Arg)
|
rs1013939450
|
|
|
NM_015214.3(DDHD2):c.475G>A (p.Glu159Lys)
|
|
|
|
NM_015214.3(DDHD2):c.478ATT[2] (p.Ile162del)
|
|
|
|
NM_015214.3(DDHD2):c.502-19C>A
|
|
|
|
NM_015214.3(DDHD2):c.502-7G>T
|
|
|
|
NM_015214.3(DDHD2):c.508G>A (p.Val170Met)
|
|
|
|
NM_015214.3(DDHD2):c.540T>C (p.Asp180=)
|
|
|
|
NM_015214.3(DDHD2):c.556_557inv (p.Thr186Val)
|
|
|
|
NM_015214.3(DDHD2):c.588A>G (p.Arg196=)
|
|
|
|
NM_015214.3(DDHD2):c.58C>T (p.Pro20Ser)
|
rs1804416698
|
|
|
NM_015214.3(DDHD2):c.612C>T (p.Asp204=)
|
rs2130772829
|
|
|
NM_015214.3(DDHD2):c.618T>C (p.His206=)
|
|
|
|
NM_015214.3(DDHD2):c.622+13G>A
|
|
|
|
NM_015214.3(DDHD2):c.638T>C (p.Ile213Thr)
|
|
|
|
NM_015214.3(DDHD2):c.662A>G (p.His221Arg)
|
|
|
|
NM_015214.3(DDHD2):c.695G>A (p.Arg232Gln)
|
|
|
|
NM_015214.3(DDHD2):c.699C>T (p.Ser233=)
|
rs560050475
|
|
|
NM_015214.3(DDHD2):c.707A>C (p.Gln236Pro)
|
|
|
|
NM_015214.3(DDHD2):c.712+5G>A
|
|
|
|
NM_015214.3(DDHD2):c.815G>A (p.Trp272Ter)
|
|
|
|
NM_015214.3(DDHD2):c.819_820del (p.His273fs)
|
|
|
|
NM_015214.3(DDHD2):c.820A>G (p.Ser274Gly)
|
rs1805323544
|
|
|
NM_015214.3(DDHD2):c.825T>G (p.Pro275=)
|
rs2130795209
|
|
|
NM_015214.3(DDHD2):c.849-16T>C
|
|
|
|
NM_015214.3(DDHD2):c.856C>T (p.Gln286Ter)
|
rs764638887
|
|
|
NM_015214.3(DDHD2):c.868C>T (p.Leu290=)
|
|
|
|
NM_015214.3(DDHD2):c.966A>G (p.Thr322=)
|
|
|
|
NM_015214.3(DDHD2):c.986G>A (p.Arg329Gln)
|
|
|
|
NM_015214.3(DDHD2):c.996A>G (p.Thr332=)
|
rs2130812808
|
|
|
NM_015291.4(DNAJC16):c.718C>T (p.Gln240Ter)
|
rs746908478
|
|
|
NM_015346.3(ZFYVE26):c.-149C>T
|
rs1656903505
|
|
|
NM_015346.4(ZFYVE26):c.*1481G>T
|
rs1431529539
|
|
|
NM_015346.4(ZFYVE26):c.*1543G>T
|
rs755240265
|
|
|
NM_015346.4(ZFYVE26):c.*182A>C
|
rs550304997
|
|
|
NM_015346.4(ZFYVE26):c.*209G>A
|
rs755815597
|
|
|
NM_015346.4(ZFYVE26):c.*436C>A
|
rs554486638
|
|
|
NM_015346.4(ZFYVE26):c.*463T>A
|
rs886050650
|
|
|
NM_015346.4(ZFYVE26):c.*464C>A
|
rs2038527345
|
|
|
NM_015346.4(ZFYVE26):c.*477C>T
|
rs1012925455
|
|
|
NM_015346.4(ZFYVE26):c.*551G>A
|
rs886050649
|
|
|
NM_015346.4(ZFYVE26):c.*689T>C
|
rs2038521628
|
|
|
NM_015346.4(ZFYVE26):c.*751C>G
|
rs886050648
|
|
|
NM_015346.4(ZFYVE26):c.*783T>G
|
rs907778338
|
|
|
NM_015346.4(ZFYVE26):c.*786T>G
|
rs886050647
|
|
|
NM_015346.4(ZFYVE26):c.*787G>T
|
rs531905881
|
|
|
NM_015346.4(ZFYVE26):c.-120G>T
|
rs886050660
|
|
|
NM_015346.4(ZFYVE26):c.1020_1021del (p.Thr341fs)
|
|
|
|
NM_015346.4(ZFYVE26):c.1034del (p.Leu345fs)
|
|
|
|
NM_015346.4(ZFYVE26):c.1051_1052insCATTCCA (p.Phe351fs)
|
|
|
|
NM_015346.4(ZFYVE26):c.1054_1055insTGTCTCTTATACACAT (p.Pro352fs)
|
|
|
|
NM_015346.4(ZFYVE26):c.1064G>A (p.Gly355Asp)
|
|
|
|
NM_015346.4(ZFYVE26):c.1141G>C (p.Glu381Gln)
|
rs2040162265
|
|
|
NM_015346.4(ZFYVE26):c.1198G>T (p.Glu400Ter)
|
|
|
|
NM_015346.4(ZFYVE26):c.1201CTC[1] (p.Leu402del)
|
rs1555400034
|
|
|
NM_015346.4(ZFYVE26):c.1254dup (p.Cys419fs)
|
|
|
|
NM_015346.4(ZFYVE26):c.1277_1278delinsTTGAAATACAGT (p.Pro426fs)
|
|
|
|
NM_015346.4(ZFYVE26):c.1293T>A (p.Asp431Glu)
|
rs747236724
|
|
|
NM_015346.4(ZFYVE26):c.1328C>A (p.Ser443Ter)
|
|
|
|
NM_015346.4(ZFYVE26):c.1342C>T (p.Leu448Phe)
|
|
|
|
NM_015346.4(ZFYVE26):c.1356_1359del (p.Asn453fs)
|
|
|
|
NM_015346.4(ZFYVE26):c.1397T>A (p.Leu466Ter)
|
|
|
|
NM_015346.4(ZFYVE26):c.1436-1G>A
|
rs545219731
|
|
|
NM_015346.4(ZFYVE26):c.143dup (p.Arg49fs)
|
|
|
|
NM_015346.4(ZFYVE26):c.1477C>T (p.Gln493Ter)
|
rs118204050
|
|
|
NM_015346.4(ZFYVE26):c.1550_1551insCT (p.Gln517fs)
|
|
|
|
NM_015346.4(ZFYVE26):c.1557_1558delinsT (p.Gln520fs)
|
|
|
|
NM_015346.4(ZFYVE26):c.1564C>T (p.Gln522Ter)
|
rs2040089822
|
|
|
NM_015346.4(ZFYVE26):c.1574_1575insG (p.Asp526fs)
|
|
|
|
NM_015346.4(ZFYVE26):c.1617G>A (p.Ala539=)
|
rs771594278
|
|
|
NM_015346.4(ZFYVE26):c.1659A>C (p.Ser553=)
|
rs2140243482
|
|
|
NM_015346.4(ZFYVE26):c.1763_1765del (p.Asp588_Leu589delinsVal)
|
rs1555399428
|
|
|
NM_015346.4(ZFYVE26):c.1792del (p.Asp598fs)
|
rs748149642
|
|
|
NM_015346.4(ZFYVE26):c.1816G>T (p.Glu606Ter)
|
|
|
|
NM_015346.4(ZFYVE26):c.1838T>G (p.Leu613Trp)
|
rs758520387
|
|
|
NM_015346.4(ZFYVE26):c.1870G>A (p.Ala624Thr)
|
rs531152715
|
|
|
NM_015346.4(ZFYVE26):c.1879_1880del (p.Glu627fs)
|
|
|
|
NM_015346.4(ZFYVE26):c.1926_1941del (p.Tyr643fs)
|
|
|
|
NM_015346.4(ZFYVE26):c.1927del (p.Tyr643fs)
|
|
|
|
NM_015346.4(ZFYVE26):c.1928_1930delinsT (p.Tyr643fs)
|
|
|
|
NM_015346.4(ZFYVE26):c.1944T>C (p.His648=)
|
rs1466130502
|
|
|
NM_015346.4(ZFYVE26):c.1971C>G (p.Tyr657Ter)
|
rs2040001177
|
|
|
NM_015346.4(ZFYVE26):c.1980del (p.His661fs)
|
|
|
|
NM_015346.4(ZFYVE26):c.1986_1988delinsACACTCAG (p.Phe665fs)
|
|
|
|
NM_015346.4(ZFYVE26):c.1992del (p.Leu666fs)
|
|
|
|
NM_015346.4(ZFYVE26):c.2006_2007del (p.Lys669fs)
|
|
|
|
NM_015346.4(ZFYVE26):c.2025_2026del (p.Ile675fs)
|
|
|
|
NM_015346.4(ZFYVE26):c.2030del (p.Gly677fs)
|
|
|
|
NM_015346.4(ZFYVE26):c.2067C>T (p.Leu689=)
|
rs141880939
|
|
|
NM_015346.4(ZFYVE26):c.2074del (p.Leu692fs)
|
rs2039997846
|
|
|
NM_015346.4(ZFYVE26):c.2111C>T (p.Pro704Leu)
|
rs2039996922
|
|
|
NM_015346.4(ZFYVE26):c.2112_2115delinsCCC (p.Glu706fs)
|
|
|
|
NM_015346.4(ZFYVE26):c.2114dup (p.Pro705_Glu706insTer)
|
rs1279863038
|
|
|
NM_015346.4(ZFYVE26):c.2149G>T (p.Gly717Ter)
|
|
|
|
NM_015346.4(ZFYVE26):c.215del (p.Pro72fs)
|
|
|
|
NM_015346.4(ZFYVE26):c.2174G>T (p.Arg725Leu)
|
rs374310868
|
|
|
NM_015346.4(ZFYVE26):c.2196_2198del (p.Val733del)
|
rs1555399289
|
|
|
NM_015346.4(ZFYVE26):c.2222del (p.Lys741fs)
|
rs1555399288
|
|
|
NM_015346.4(ZFYVE26):c.2248+2T>C
|
rs1555399278
|
|
|
NM_015346.4(ZFYVE26):c.2254C>T (p.Gln752Ter)
|
rs1057518016
|
|
|
NM_015346.4(ZFYVE26):c.2263C>T (p.Arg755Ter)
|
rs1297072049
|
|
|
NM_015346.4(ZFYVE26):c.227C>A (p.Ala76Asp)
|
rs770415843
|
|
|
NM_015346.4(ZFYVE26):c.2338C>T (p.Arg780Ter)
|
rs941230062
|
|
|
NM_015346.4(ZFYVE26):c.2339G>A (p.Arg780Gln)
|
|
|
|
NM_015346.4(ZFYVE26):c.237G>A (p.Trp79Ter)
|
|
|
|
NM_015346.4(ZFYVE26):c.2401+1G>T
|
rs1555398778
|
|
|
NM_015346.4(ZFYVE26):c.2450del (p.Leu817fs)
|
rs768176054
|
|
|
NM_015346.4(ZFYVE26):c.253A>T (p.Lys85Ter)
|
|
|
|
NM_015346.4(ZFYVE26):c.2553+8G>A
|
rs1355900379
|
|
|
NM_015346.4(ZFYVE26):c.2554-1G>C
|
rs760559263
|
|
|
NM_015346.4(ZFYVE26):c.2554-2A>G
|
rs1186788102
|
|
|
NM_015346.4(ZFYVE26):c.2609_2633del (p.Met870fs)
|
rs2140234090
|
|
|
NM_015346.4(ZFYVE26):c.2615_2617delinsTGAA (p.Arg872fs)
|
rs2039789839
|
|
|
NM_015346.4(ZFYVE26):c.2618_2619del (p.Tyr873fs)
|
|
|
|
NM_015346.4(ZFYVE26):c.2619C>A (p.Tyr873Ter)
|
|
|
|
NM_015346.4(ZFYVE26):c.2625del (p.Glu875_Val876insTer)
|
rs1555398241
|
|
|
NM_015346.4(ZFYVE26):c.2639T>C (p.Leu880Pro)
|
rs2039789225
|
|
|
NM_015346.4(ZFYVE26):c.2644C>T (p.Gln882Ter)
|
|
|
|
NM_015346.4(ZFYVE26):c.266G>A (p.Arg89Gln)
|
rs138664542
|
|
|
NM_015346.4(ZFYVE26):c.266G>C (p.Arg89Pro)
|
rs138664542
|
|
|
NM_015346.4(ZFYVE26):c.2804_2805dup (p.Ser936fs)
|
|
|
|
NM_015346.4(ZFYVE26):c.2830C>T (p.Gln944Ter)
|
|
|
|
NM_015346.4(ZFYVE26):c.2833G>T (p.Glu945Ter)
|
|
|
|
NM_015346.4(ZFYVE26):c.2843_2844insTATAAGAGACAGT (p.Trp948fs)
|
|
|
|
NM_015346.4(ZFYVE26):c.3020-1G>A
|
rs1555397638
|
|
|
NM_015346.4(ZFYVE26):c.3022C>T (p.Arg1008Ter)
|
rs766888372
|
|
|
NM_015346.4(ZFYVE26):c.3038_3039delinsGAGTCCTGGG (p.Val1013fs)
|
|
|
|
NM_015346.4(ZFYVE26):c.3061C>T (p.Arg1021Ter)
|
rs2039651443
|
|
|
NM_015346.4(ZFYVE26):c.3070C>T (p.Pro1024Ser)
|
rs267604032
|
|
|
NM_015346.4(ZFYVE26):c.3077TTC[1] (p.Leu1027del)
|
rs1555397625
|
|
|
NM_015346.4(ZFYVE26):c.3119_3120del (p.Ser1040fs)
|
|
|
|
NM_015346.4(ZFYVE26):c.3129A>C (p.Gln1043His)
|
rs2140227998
|
|
|
NM_015346.4(ZFYVE26):c.3146_3147del (p.Val1049fs)
|
|
|
|
NM_015346.4(ZFYVE26):c.3163_3164insCATCTTTTCTCTTCCTT (p.Gly1055fs)
|
|
|
|
NM_015346.4(ZFYVE26):c.3179_3180insTGA (p.Ser1060_Ile1061insAsp)
|
rs1555397578
|
|
|
NM_015346.4(ZFYVE26):c.3210C>G (p.Pro1070=)
|
rs7156492
|
|
|
NM_015346.4(ZFYVE26):c.3210C>T (p.Pro1070=)
|
rs7156492
|
|
|
NM_015346.4(ZFYVE26):c.3248_3253del (p.Leu1083_Ser1084del)
|
rs761454264
|
|
|
NM_015346.4(ZFYVE26):c.3254delinsTTATACCTG (p.Gln1085fs)
|
|
|
|
NM_015346.4(ZFYVE26):c.3256C>T (p.Gln1086Ter)
|
rs2140227633
|
|
|
NM_015346.4(ZFYVE26):c.3282_3293del (p.Arg1095_Leu1098del)
|
rs753694248
|
|
|
NM_015346.4(ZFYVE26):c.3292_3294dup (p.Leu1098dup)
|
rs763823801
|
|
|
NM_015346.4(ZFYVE26):c.3304+1G>A
|
|
|
|
NM_015346.4(ZFYVE26):c.3314_3315delinsTTTCCTACCTTGA (p.Thr1105fs)
|
|
|
|
NM_015346.4(ZFYVE26):c.3366_3368delinsTGAGTCT (p.Ala1124fs)
|
|
|
|
NM_015346.4(ZFYVE26):c.3394C>T (p.Gln1132Ter)
|
|
|
|
NM_015346.4(ZFYVE26):c.3408_3409del (p.Asn1137fs)
|
|
|
|
NM_015346.4(ZFYVE26):c.3416del (p.Gly1139fs)
|
|
|
|
NM_015346.4(ZFYVE26):c.3447_3466del (p.Met1149fs)
|
rs2039613696
|
|
|
NM_015346.4(ZFYVE26):c.3463TTC[1] (p.Phe1156del)
|
rs1555397452
|
|
|
NM_015346.4(ZFYVE26):c.3524-2A>G
|
rs1555397331
|
|
|
NM_015346.4(ZFYVE26):c.3626+1G>C
|
rs1555397310
|
|
|
NM_015346.4(ZFYVE26):c.363+1G>A
|
rs935301743
|
|
|
NM_015346.4(ZFYVE26):c.363+2T>G
|
rs760001730
|
|
|
NM_015346.4(ZFYVE26):c.3634del (p.Ala1212fs)
|
|
|
|
NM_015346.4(ZFYVE26):c.3642_3643insCCACACTTAG (p.Ala1215fs)
|
rs773333879
|
|
|
NM_015346.4(ZFYVE26):c.3673C>T (p.Gln1225Ter)
|
|
|
|
NM_015346.4(ZFYVE26):c.3684_3688del (p.Ser1229fs)
|
|
|
|
NM_015346.4(ZFYVE26):c.36_37del (p.Gln13fs)
|
|
|
|
NM_015346.4(ZFYVE26):c.372T>A (p.Tyr124Ter)
|
|
|
|
NM_015346.4(ZFYVE26):c.375_376del (p.Glu125fs)
|
|
|
|
NM_015346.4(ZFYVE26):c.3777_3779delinsT (p.His1260fs)
|
|
|
|
NM_015346.4(ZFYVE26):c.3893del (p.Pro1298fs)
|
|
|
|
NM_015346.4(ZFYVE26):c.3912C>G (p.Ala1304=)
|
rs886050657
|
|
|
NM_015346.4(ZFYVE26):c.3925_3926del (p.Lys1309fs)
|
|
|
|
NM_015346.4(ZFYVE26):c.3929C>G (p.Ser1310Ter)
|
|
|
|
NM_015346.4(ZFYVE26):c.3960C>A (p.Cys1320Ter)
|
|
|
|
NM_015346.4(ZFYVE26):c.3G>T (p.Met1Ile)
|
rs1392868365
|
|
|
NM_015346.4(ZFYVE26):c.4024C>G (p.Arg1342Gly)
|
rs368778263
|
|
|
NM_015346.4(ZFYVE26):c.4061G>A (p.Arg1354Gln)
|
|
|
|
NM_015346.4(ZFYVE26):c.4096_4099del (p.Phe1366fs)
|
rs774867891
|
|
|
NM_015346.4(ZFYVE26):c.4103C>A (p.Ala1368Asp)
|
rs886050656
|
|
|
NM_015346.4(ZFYVE26):c.4122G>A (p.Trp1374Ter)
|
|
|
|
NM_015346.4(ZFYVE26):c.4132C>T (p.Arg1378Ter)
|
rs774809466
|
|
|
NM_015346.4(ZFYVE26):c.4153C>T (p.Gln1385Ter)
|
rs2039544464
|
|
|
NM_015346.4(ZFYVE26):c.4177_4178insA (p.Gly1393fs)
|
|
|
|
NM_015346.4(ZFYVE26):c.4197C>T (p.Thr1399=)
|
rs35018134
|
|
|
NM_015346.4(ZFYVE26):c.4262T>A (p.Leu1421Ter)
|
|
|
|
NM_015346.4(ZFYVE26):c.4282_4283delinsT (p.Arg1428fs)
|
|
|
|
NM_015346.4(ZFYVE26):c.4308C>G (p.Tyr1436Ter)
|
|
|
|
NM_015346.4(ZFYVE26):c.4338A>T (p.Ile1446=)
|
rs765803190
|
|
|
NM_015346.4(ZFYVE26):c.4339A>T (p.Lys1447Ter)
|
|
|
|
NM_015346.4(ZFYVE26):c.4341_4342delinsA (p.Asp1448fs)
|
|
|
|
NM_015346.4(ZFYVE26):c.4348G>T (p.Val1450Phe)
|
|
|
|
NM_015346.4(ZFYVE26):c.4359T>A (p.Cys1453Ter)
|
rs1594912625
|
|
|
NM_015346.4(ZFYVE26):c.4370G>A (p.Cys1457Tyr)
|
rs2235967
|
|
|
NM_015346.4(ZFYVE26):c.4372+1_4372+3del
|
rs1555396965
|
|
|
NM_015346.4(ZFYVE26):c.4409_4410insAAGA (p.Asp1470fs)
|
|
|
|
NM_015346.4(ZFYVE26):c.4428dup (p.Leu1477fs)
|
|
|
|
NM_015346.4(ZFYVE26):c.443G>C (p.Arg148Pro)
|
rs144919978
|
|
|
NM_015346.4(ZFYVE26):c.443G>T (p.Arg148Leu)
|
rs144919978
|
|
|
NM_015346.4(ZFYVE26):c.4455del (p.Trp1485fs)
|
rs1566881181
|
|
|
NM_015346.4(ZFYVE26):c.4522A>T (p.Lys1508Ter)
|
|
|
|
NM_015346.4(ZFYVE26):c.4540A>T (p.Lys1514Ter)
|
|
|
|
NM_015346.4(ZFYVE26):c.4569+1G>T
|
|
|
|
NM_015346.4(ZFYVE26):c.4592del (p.Pro1531fs)
|
|
|
|
NM_015346.4(ZFYVE26):c.4600_4602delinsA (p.Cys1534fs)
|
|
|
|
NM_015346.4(ZFYVE26):c.4606T>G (p.Trp1536Gly)
|
rs2039465379
|
|
|
NM_015346.4(ZFYVE26):c.4633G>T (p.Glu1545Ter)
|
rs763869212
|
|
|
NM_015346.4(ZFYVE26):c.4715_4716insCTATTAATGTC (p.Ile1572_Pro1573insTyrTer)
|
|
|
|
NM_015346.4(ZFYVE26):c.4783_4784del (p.Asp1595fs)
|
|
|
|
NM_015346.4(ZFYVE26):c.4798-1G>A
|
rs1555396303
|
|
|
NM_015346.4(ZFYVE26):c.4798-1G>T
|
rs1555396303
|
|
|
NM_015346.4(ZFYVE26):c.4846C>T (p.Gln1616Ter)
|
rs2140214976
|
|
|
NM_015346.4(ZFYVE26):c.484_485del (p.Arg162fs)
|
|
|
|
NM_015346.4(ZFYVE26):c.4962T>A (p.Tyr1654Ter)
|
|
|
|
NM_015346.4(ZFYVE26):c.4975-5A>G
|
rs2140212689
|
|
|
NM_015346.4(ZFYVE26):c.4982_4983del (p.Leu1661fs)
|
|
|
|
NM_015346.4(ZFYVE26):c.5036del (p.Leu1679fs)
|
rs753426920
|
|
|
NM_015346.4(ZFYVE26):c.5064C>T (p.Asn1688=)
|
rs886050655
|
|
|
NM_015346.4(ZFYVE26):c.5069del (p.Lys1690fs)
|
|
|
|
NM_015346.4(ZFYVE26):c.5073G>A (p.Val1691=)
|
rs2140212459
|
|
|
NM_015346.4(ZFYVE26):c.5080G>C (p.Ala1694Pro)
|
rs886050654
|
|
|
NM_015346.4(ZFYVE26):c.5112G>T (p.Leu1704=)
|
rs200196596
|
|
|
NM_015346.4(ZFYVE26):c.5125_5127del (p.Glu1709del)
|
rs1555396056
|
|
|
NM_015346.4(ZFYVE26):c.5179A>T (p.Lys1727Ter)
|
|
|
|
NM_015346.4(ZFYVE26):c.517del (p.Glu173fs)
|
|
|
|
NM_015346.4(ZFYVE26):c.5215C>T (p.Arg1739Ter)
|
rs1214483973
|
|
|
NM_015346.4(ZFYVE26):c.5216G>A (p.Arg1739Gln)
|
rs201566214
|
|
|
NM_015346.4(ZFYVE26):c.5239C>T (p.Gln1747Ter)
|
|
|
|
NM_015346.4(ZFYVE26):c.5303C>G (p.Ser1768Cys)
|
|
|
|
NM_015346.4(ZFYVE26):c.5321-2A>G
|
rs1555395560
|
|
|
NM_015346.4(ZFYVE26):c.5350del (p.Arg1784fs)
|
|
|
|
NM_015346.4(ZFYVE26):c.5422C>T (p.Gln1808Ter)
|
rs387907057
|
|
|
NM_015346.4(ZFYVE26):c.5428dup (p.Val1810fs)
|
rs2140207402
|
|
|
NM_015346.4(ZFYVE26):c.5431C>T (p.Pro1811Ser)
|
rs1012956419
|
|
|
NM_015346.4(ZFYVE26):c.5434G>A (p.Asp1812Asn)
|
rs2140207374
|
|
|
NM_015346.4(ZFYVE26):c.5483T>A (p.Met1828Lys)
|
rs2039223591
|
|
|
NM_015346.4(ZFYVE26):c.5484+1G>T
|
rs1555395524
|
|
|
NM_015346.4(ZFYVE26):c.5484+1del
|
rs1555395525
|
|
|
NM_015346.4(ZFYVE26):c.5485-1G>A
|
rs1594898627
|
|
|
NM_015346.4(ZFYVE26):c.5485-2A>G
|
rs1555395288
|
|
|
NM_015346.4(ZFYVE26):c.5559_5563del (p.Glu1854fs)
|
|
|
|
NM_015346.4(ZFYVE26):c.5568C>A (p.Cys1856Ter)
|
|
|
|
NM_015346.4(ZFYVE26):c.5581_5583del (p.Ala1861del)
|
rs1555395254
|
|
|
NM_015346.4(ZFYVE26):c.5585G>T (p.Arg1862Leu)
|
rs140471625
|
|
|
NM_015346.4(ZFYVE26):c.5590_5592delinsA (p.Cys1864fs)
|
|
|
|
NM_015346.4(ZFYVE26):c.5654-2A>G
|
|
|
|
NM_015346.4(ZFYVE26):c.5690C>A (p.Ser1897Ter)
|
|
|
|
NM_015346.4(ZFYVE26):c.5729G>A (p.Trp1910Ter)
|
|
|
|
NM_015346.4(ZFYVE26):c.5735dup (p.Leu1912fs)
|
|
|
|
NM_015346.4(ZFYVE26):c.5762_5763insCGTC (p.Arg1923fs)
|
|
|
|
NM_015346.4(ZFYVE26):c.5767_5790+3dup
|
rs1555394994
|
|
|
NM_015346.4(ZFYVE26):c.5771G>A (p.Ser1924Asn)
|
rs2039094968
|
|
|
NM_015346.4(ZFYVE26):c.5796C>T (p.Pro1932=)
|
rs2039062513
|
|
|
NM_015346.4(ZFYVE26):c.5941C>T (p.Gln1981Ter)
|
|
|
|
NM_015346.4(ZFYVE26):c.5996T>C (p.Leu1999Ser)
|
rs2039054589
|
|
|
NM_015346.4(ZFYVE26):c.6004dup (p.Cys2002fs)
|
|
|
|
NM_015346.4(ZFYVE26):c.6006dup (p.Asp2003Ter)
|
rs1555394824
|
|
|
NM_015346.4(ZFYVE26):c.6033G>A (p.Val2011=)
|
rs2140194830
|
|
|
NM_015346.4(ZFYVE26):c.6115del (p.Arg2039fs)
|
|
|
|
NM_015346.4(ZFYVE26):c.620_621del (p.Pro207fs)
|
|
|
|
NM_015346.4(ZFYVE26):c.6219C>A (p.Cys2073Ter)
|
|
|
|
NM_015346.4(ZFYVE26):c.6242_6243del (p.Ala2081fs)
|
|
|
|
NM_015346.4(ZFYVE26):c.6253_6255del (p.Lys2085del)
|
rs1555394387
|
|
|
NM_015346.4(ZFYVE26):c.6276_6278del (p.Pro2093del)
|
rs755756797
|
|
|
NM_015346.4(ZFYVE26):c.6331G>T (p.Glu2111Ter)
|
|
|
|
NM_015346.4(ZFYVE26):c.6335A>T (p.Tyr2112Phe)
|
rs2038950899
|
|
|
NM_015346.4(ZFYVE26):c.6390del (p.Thr2131fs)
|
rs2140192941
|
|
|
NM_015346.4(ZFYVE26):c.6397_6398del (p.Arg2133fs)
|
|
|
|
NM_015346.4(ZFYVE26):c.6422C>T (p.Thr2141Met)
|
|
|
|
NM_015346.4(ZFYVE26):c.6424C>T (p.Gln2142Ter)
|
|
|
|
NM_015346.4(ZFYVE26):c.6475TAC[1] (p.Tyr2160del)
|
rs1555394298
|
|
|
NM_015346.4(ZFYVE26):c.6486del (p.Glu2162fs)
|
rs886050653
|
|
|
NM_015346.4(ZFYVE26):c.6540C>T (p.Tyr2180=)
|
rs142224979
|
|
|
NM_015346.4(ZFYVE26):c.6589-2A>G
|
|
|
|
NM_015346.4(ZFYVE26):c.6595C>T (p.Pro2199Ser)
|
rs2038773649
|
|
|
NM_015346.4(ZFYVE26):c.6600delinsTG (p.Glu2201fs)
|
|
|
|
NM_015346.4(ZFYVE26):c.6610del (p.Phe2203_Ile2204insTer)
|
rs2140185555
|
|
|
NM_015346.4(ZFYVE26):c.6623del (p.Phe2208fs)
|
|
|
|
NM_015346.4(ZFYVE26):c.6659T>A (p.Leu2220Ter)
|
|
|
|
NM_015346.4(ZFYVE26):c.6692T>A (p.Leu2231Ter)
|
|
|
|
NM_015346.4(ZFYVE26):c.6702_6771del (p.Trp2234fs)
|
rs2140185342
|
|
|
NM_015346.4(ZFYVE26):c.6713T>A (p.Leu2238Ter)
|
|
|
|
NM_015346.4(ZFYVE26):c.6736C>T (p.Gln2246Ter)
|
|
|
|
NM_015346.4(ZFYVE26):c.6738GAA[2] (p.Lys2248del)
|
rs764479245
|
|
|
NM_015346.4(ZFYVE26):c.6790C>T (p.Gln2264Ter)
|
|
|
|
NM_015346.4(ZFYVE26):c.6850G>T (p.Glu2284Ter)
|
|
|
|
NM_015346.4(ZFYVE26):c.6884_6885del (p.Ala2295fs)
|
|
|
|
NM_015346.4(ZFYVE26):c.6897G>A (p.Leu2299=)
|
rs2140184412
|
|
|
NM_015346.4(ZFYVE26):c.6898_6900delinsC (p.Lys2300fs)
|
|
|
|
NM_015346.4(ZFYVE26):c.6905A>G (p.Tyr2302Cys)
|
rs199939197
|
|
|
NM_015346.4(ZFYVE26):c.6922C>T (p.Arg2308Cys)
|
|
|
|
NM_015346.4(ZFYVE26):c.6987-1G>A
|
rs1555393393
|
|
|
NM_015346.4(ZFYVE26):c.7020_7027dup (p.Phe2343Ter)
|
rs2140183172
|
|
|
NM_015346.4(ZFYVE26):c.7031T>A (p.Leu2344Ter)
|
|
|
|
NM_015346.4(ZFYVE26):c.7041C>A (p.Cys2347Ter)
|
rs370837940
|
|
|
NM_015346.4(ZFYVE26):c.7046del (p.Ser2349fs)
|
|
|
|
NM_015346.4(ZFYVE26):c.7075C>A (p.Pro2359Thr)
|
rs747029622
|
|
|
NM_015346.4(ZFYVE26):c.7129-19_7129-17dup
|
rs111465559
|
|
|
NM_015346.4(ZFYVE26):c.7129-2A>T
|
|
|
|
NM_015346.4(ZFYVE26):c.7188+1G>A
|
rs1555393338
|
|
|
NM_015346.4(ZFYVE26):c.7195C>T (p.Gln2399Ter)
|
rs869312914
|
|
|
NM_015346.4(ZFYVE26):c.7257del (p.Lys2418_Tyr2419insTer)
|
rs771393692
|
|
|
NM_015346.4(ZFYVE26):c.7270C>T (p.Gln2424Ter)
|
|
|
|
NM_015346.4(ZFYVE26):c.7347A>T (p.Glu2449Asp)
|
|
|
|
NM_015346.4(ZFYVE26):c.7350G>A (p.Ala2450=)
|
rs370775301
|
|
|
NM_015346.4(ZFYVE26):c.7371+1G>A
|
rs1555393181
|
|
|
NM_015346.4(ZFYVE26):c.7390C>T (p.Gln2464Ter)
|
rs1555393011
|
|
|
NM_015346.4(ZFYVE26):c.7416+2T>C
|
rs1555393005
|
|
|
NM_015346.4(ZFYVE26):c.741C>A (p.Cys247Ter)
|
|
|
|
NM_015346.4(ZFYVE26):c.7434_7435del (p.Ile2478fs)
|
rs1555392785
|
|
|
NM_015346.4(ZFYVE26):c.7617G>A (p.Lys2539=)
|
rs550301037
|
|
|
NM_015346.4(ZFYVE26):c.769G>A (p.Glu257Lys)
|
rs886050659
|
|
|
NM_015346.4(ZFYVE26):c.878C>A (p.Ser293Ter)
|
|
|
|
NM_015346.4(ZFYVE26):c.886+1G>C
|
rs752618765
|
|
|
NM_015346.4(ZFYVE26):c.887-1G>A
|
|
|
|
NM_015346.4(ZFYVE26):c.944del (p.Asn315fs)
|
|
|
|
NM_015375.3(DSTYK):c.1169G>A (p.Arg390His)
|
rs745365385
|
|
|
NM_015375.3(DSTYK):c.1317G>C (p.Glu439Asp)
|
|
|
|
NM_015375.3(DSTYK):c.1384C>T (p.Arg462Ter)
|
rs77626160
|
|
|
NM_015375.3(DSTYK):c.2467+930_*1895delinsTGTAGTCCTGCTCCTTGAGG
|
|
|
|
NM_015375.3(DSTYK):c.55G>A (p.Gly19Ser)
|
|
|
|
NM_015375.3(DSTYK):c.623T>C (p.Leu208Pro)
|
|
|
|
NM_015375.3(DSTYK):c.95G>A (p.Gly32Asp)
|
|
|
|
NM_015466.4(PTPN23):c.4719_4720delinsA (p.Ser1574fs)
|
rs2107730191
|
|
|
NM_015559.3(SETBP1):c.4771G>A (p.Glu1591Lys)
|
rs759235645
|
|
|
NM_015656.1(KIF26A):c.[1378delG];[4925C>T]
|
|
|
|
NM_015915.5(ATL1):c.*180A>C
|
rs2039592812
|
|
|
NM_015915.5(ATL1):c.*327A>G
|
rs1298751445
|
|
|
NM_015915.5(ATL1):c.1002G>A (p.Lys334=)
|
|
|
|
NM_015915.5(ATL1):c.1006T>C (p.Tyr336His)
|
|
|
|
NM_015915.5(ATL1):c.1008T>G (p.Tyr336Ter)
|
|
|
|
NM_015915.5(ATL1):c.1013G>A (p.Gly338Asp)
|
|
|
|
NM_015915.5(ATL1):c.1021_1023del (p.Leu341del)
|
|
|
|
NM_015915.5(ATL1):c.1024C>G (p.Pro342Ala)
|
rs1555365509
|
|
|
NM_015915.5(ATL1):c.1024C>T (p.Pro342Ser)
|
|
|
|
NM_015915.5(ATL1):c.1025C>A (p.Pro342Gln)
|
|
|
|
NM_015915.5(ATL1):c.1027C>G (p.His343Asp)
|
rs2140233521
|
|
|
NM_015915.5(ATL1):c.1030C>A (p.Pro344Thr)
|
rs2039470124
|
|
|
NM_015915.5(ATL1):c.1030C>T (p.Pro344Ser)
|
|
|
|
NM_015915.5(ATL1):c.1030_1040del (p.Pro344fs)
|
|
|
|
NM_015915.5(ATL1):c.1035A>G (p.Lys345=)
|
|
|
|
NM_015915.5(ATL1):c.1037C>T (p.Ser346Phe)
|
|
|
|
NM_015915.5(ATL1):c.1040T>C (p.Met347Thr)
|
rs1595620366
|
|
|
NM_015915.5(ATL1):c.1041G>A (p.Met347Ile)
|
rs1555365512
|
|
|
NM_015915.5(ATL1):c.1041G>T (p.Met347Ile)
|
|
|
|
NM_015915.5(ATL1):c.1047+10A>G
|
rs2140233560
|
|
|
NM_015915.5(ATL1):c.1047+20C>T
|
rs754774903
|
|
|
NM_015915.5(ATL1):c.1047+4T>C
|
|
|
|
NM_015915.5(ATL1):c.1048-20A>G
|
|
|
|
NM_015915.5(ATL1):c.1048-7T>C
|
|
|
|
NM_015915.5(ATL1):c.1048G>A (p.Ala350Thr)
|
rs1595621292
|
|
|
NM_015915.5(ATL1):c.1048G>T (p.Ala350Ser)
|
rs1595621292
|
|
|
NM_015915.5(ATL1):c.1051A>G (p.Thr351Ala)
|
rs2140234793
|
|
|
NM_015915.5(ATL1):c.1057G>A (p.Glu353Lys)
|
rs1555365595
|
|
|
NM_015915.5(ATL1):c.1064A>C (p.Asn355Thr)
|
|
|
|
NM_015915.5(ATL1):c.1065C>G (p.Asn355Lys)
|
rs1555365597
|
|
|
NM_015915.5(ATL1):c.1068T>A (p.Asn356Lys)
|
rs1595621335
|
|
|
NM_015915.5(ATL1):c.1070T>C (p.Leu357Ser)
|
|
|
|
NM_015915.5(ATL1):c.1074A>C (p.Ala358=)
|
rs1363756767
|
|
|
NM_015915.5(ATL1):c.1077C>T (p.Ala359=)
|
|
|
|
NM_015915.5(ATL1):c.1079T>G (p.Val360Gly)
|
|
|
|
NM_015915.5(ATL1):c.1097C>T (p.Thr366Ile)
|
|
|
|
NM_015915.5(ATL1):c.109G>C (p.Val37Leu)
|
|
|
|
NM_015915.5(ATL1):c.1101C>A (p.Tyr367Ter)
|
|
|
|
NM_015915.5(ATL1):c.1119+19A>G
|
|
|
|
NM_015915.5(ATL1):c.1119+7G>A
|
rs1487034076
|
|
|
NM_015915.5(ATL1):c.1119G>A (p.Glu373=)
|
rs2039485066
|
|
|
NM_015915.5(ATL1):c.111C>A (p.Val37=)
|
|
|
|
NM_015915.5(ATL1):c.1120-10T>C
|
|
|
|
NM_015915.5(ATL1):c.1120-11_1120-8del
|
|
|
|
NM_015915.5(ATL1):c.1129G>A (p.Gly377Ser)
|
|
|
|
NM_015915.5(ATL1):c.1134C>G (p.Asp378Glu)
|
|
|
|
NM_015915.5(ATL1):c.1137A>G (p.Lys379=)
|
rs2140238970
|
|
|
NM_015915.5(ATL1):c.1138C>A (p.Pro380Thr)
|
|
|
|
NM_015915.5(ATL1):c.1142T>A (p.Phe381Tyr)
|
rs2039538375
|
|
|
NM_015915.5(ATL1):c.1144C>G (p.Leu382Val)
|
|
|
|
NM_015915.5(ATL1):c.114C>T (p.Leu38=)
|
|
|
|
NM_015915.5(ATL1):c.1157A>G (p.Asp386Gly)
|
rs2039538543
|
|
|
NM_015915.5(ATL1):c.1158C>T (p.Asp386=)
|
rs2140238986
|
|
|
NM_015915.5(ATL1):c.1160T>C (p.Leu387Ser)
|
rs1595625010
|
|
|
NM_015915.5(ATL1):c.1173C>A (p.His391Gln)
|
|
|
|
NM_015915.5(ATL1):c.1173C>G (p.His391Gln)
|
rs149340140
|
|
|
NM_015915.5(ATL1):c.1189G>C (p.Glu397Gln)
|
rs148203226
|
|
|
NM_015915.5(ATL1):c.118G>T (p.Val40Phe)
|
rs2140201780
|
|
|
NM_015915.5(ATL1):c.1193C>A (p.Ser398Tyr)
|
rs864622083
|
|
|
NM_015915.5(ATL1):c.1193C>T (p.Ser398Phe)
|
|
|
|
NM_015915.5(ATL1):c.1197G>C (p.Val399=)
|
|
|
|
NM_015915.5(ATL1):c.11A>G (p.Asn4Ser)
|
|
|
|
NM_015915.5(ATL1):c.1201C>T (p.Leu401=)
|
|
|
|
NM_015915.5(ATL1):c.1203A>T (p.Leu401=)
|
|
|
|
NM_015915.5(ATL1):c.1204T>C (p.Phe402Leu)
|
rs1555365850
|
|
|
NM_015915.5(ATL1):c.1206C>A (p.Phe402Leu)
|
rs1566735714
|
|
|
NM_015915.5(ATL1):c.1207del (p.Arg403fs)
|
rs2140239030
|
|
|
NM_015915.5(ATL1):c.1208G>A (p.Arg403Gln)
|
|
|
|
NM_015915.5(ATL1):c.1208G>C (p.Arg403Pro)
|
|
|
|
NM_015915.5(ATL1):c.1214T>G (p.Val405Gly)
|
|
|
|
NM_015915.5(ATL1):c.1216A>C (p.Lys406Gln)
|
rs1595625104
|
|
|
NM_015915.5(ATL1):c.1216A>G (p.Lys406Glu)
|
rs1595625104
|
|
|
NM_015915.5(ATL1):c.1217AGA[1] (p.Lys407del)
|
rs1595625099
|
|
|
NM_015915.5(ATL1):c.1220A>T (p.Lys407Met)
|
rs2039539459
|
|
|
NM_015915.5(ATL1):c.1221G>C (p.Lys407Asn)
|
|
|
|
NM_015915.5(ATL1):c.1222A>G (p.Met408Val)
|
rs28939094
|
|
|
NM_015915.5(ATL1):c.1222A>T (p.Met408Leu)
|
rs28939094
|
|
|
NM_015915.5(ATL1):c.1223T>C (p.Met408Thr)
|
rs1595625113
|
|
|
NM_015915.5(ATL1):c.1225G>T (p.Gly409Cys)
|
rs1064795212
|
|
|
NM_015915.5(ATL1):c.1226G>A (p.Gly409Asp)
|
rs2039539644
|
|
|
NM_015915.5(ATL1):c.1228G>A (p.Gly410Arg)
|
rs1555365854
|
|
|
NM_015915.5(ATL1):c.1237T>C (p.Phe413Leu)
|
|
|
|
NM_015915.5(ATL1):c.1237T>G (p.Phe413Val)
|
|
|
|
NM_015915.5(ATL1):c.1243C>T (p.Arg415Trp)
|
rs119476050
|
|
|
NM_015915.5(ATL1):c.1244G>A (p.Arg415Gln)
|
rs397514712
|
|
|
NM_015915.5(ATL1):c.1256A>T (p.Gln419Leu)
|
rs752641587
|
|
|
NM_015915.5(ATL1):c.1259A>C (p.Gln420Pro)
|
|
|
|
NM_015915.5(ATL1):c.1259A>G (p.Gln420Arg)
|
rs143038913
|
|
|
NM_015915.5(ATL1):c.125A>T (p.Asp42Val)
|
rs2140201784
|
|
|
NM_015915.5(ATL1):c.1263G>C (p.Leu421Phe)
|
rs2140239106
|
|
|
NM_015915.5(ATL1):c.1266G>A (p.Glu422=)
|
rs1595625167
|
|
|
NM_015915.5(ATL1):c.1267A>G (p.Ser423Gly)
|
|
|
|
NM_015915.5(ATL1):c.126T>C (p.Asp42=)
|
|
|
|
NM_015915.5(ATL1):c.1288A>C (p.Ile430Leu)
|
rs1344787853
|
|
|
NM_015915.5(ATL1):c.1296T>C (p.Tyr432=)
|
rs2140239149
|
|
|
NM_015915.5(ATL1):c.129C>G (p.Asp43Glu)
|
rs17850684
|
|
|
NM_015915.5(ATL1):c.1306A>G (p.Asn436Asp)
|
rs2140239163
|
|
|
NM_015915.5(ATL1):c.1306_1308del (p.Asn436del)
|
rs1595625206
|
|
|
NM_015915.5(ATL1):c.1309G>A (p.Asp437Asn)
|
|
|
|
NM_015915.5(ATL1):c.1311T>C (p.Asp437=)
|
|
|
|
NM_015915.5(ATL1):c.1314C>G (p.Ser438Arg)
|
rs541087955
|
|
|
NM_015915.5(ATL1):c.1319A>C (p.Asn440Thr)
|
|
|
|
NM_015915.5(ATL1):c.1322T>G (p.Ile441Ser)
|
rs2039541164
|
|
|
NM_015915.5(ATL1):c.1323C>G (p.Ile441Met)
|
rs781364352
|
|
|
NM_015915.5(ATL1):c.1330G>T (p.Ala444Ser)
|
rs2039541394
|
|
|
NM_015915.5(ATL1):c.1332A>G (p.Ala444=)
|
rs778318620
|
|
|
NM_015915.5(ATL1):c.1334C>T (p.Ala445Val)
|
rs1595625262
|
|
|
NM_015915.5(ATL1):c.1336C>T (p.Arg446Cys)
|
|
|
|
NM_015915.5(ATL1):c.1337G>A (p.Arg446His)
|
|
|
|
NM_015915.5(ATL1):c.133T>G (p.Ser45Ala)
|
rs2140201804
|
|
|
NM_015915.5(ATL1):c.1341C>G (p.Thr447=)
|
|
|
|
NM_015915.5(ATL1):c.1341C>T (p.Thr447=)
|
rs2140239227
|
|
|
NM_015915.5(ATL1):c.1347C>T (p.Ala449=)
|
|
|
|
NM_015915.5(ATL1):c.1358T>C (p.Val453Ala)
|
|
|
|
NM_015915.5(ATL1):c.135C>T (p.Ser45=)
|
rs2039118124
|
|
|
NM_015915.5(ATL1):c.1369A>G (p.Ile457Val)
|
|
|
|
NM_015915.5(ATL1):c.1374A>G (p.Thr458=)
|
|
|
|
NM_015915.5(ATL1):c.1376A>G (p.Tyr459Cys)
|
|
|
|
NM_015915.5(ATL1):c.1379T>A (p.Val460Glu)
|
rs1555365871
|
|
|
NM_015915.5(ATL1):c.1392G>A (p.Val464=)
|
|
|
|
NM_015915.5(ATL1):c.1392G>C (p.Val464=)
|
|
|
|
NM_015915.5(ATL1):c.1415T>G (p.Ile472Ser)
|
|
|
|
NM_015915.5(ATL1):c.1423A>G (p.Ser475Gly)
|
|
|
|
NM_015915.5(ATL1):c.1426C>T (p.Leu476=)
|
|
|
|
NM_015915.5(ATL1):c.1430G>C (p.Cys477Ser)
|
|
|
|
NM_015915.5(ATL1):c.1434T>C (p.Asn478=)
|
rs1555365873
|
|
|
NM_015915.5(ATL1):c.1435A>T (p.Met479Leu)
|
|
|
|
NM_015915.5(ATL1):c.1449G>C (p.Leu483=)
|
|
|
|
NM_015915.5(ATL1):c.1460C>T (p.Thr487Ile)
|
rs778172917
|
|
|
NM_015915.5(ATL1):c.1465_1466dup (p.Thr490fs)
|
|
|
|
NM_015915.5(ATL1):c.1472G>A (p.Trp491Ter)
|
rs2039543082
|
|
|
NM_015915.5(ATL1):c.1474dup (p.Ala492fs)
|
|
|
|
NM_015915.5(ATL1):c.1484G>A (p.Arg495Gln)
|
|
|
|
NM_015915.5(ATL1):c.1485G>C (p.Arg495=)
|
|
|
|
NM_015915.5(ATL1):c.1488C>A (p.Tyr496Ter)
|
rs779304953
|
|
|
NM_015915.5(ATL1):c.1502G>C (p.Arg501Pro)
|
rs374795927
|
|
|
NM_015915.5(ATL1):c.1504dup (p.Glu502fs)
|
|
|
|
NM_015915.5(ATL1):c.1505_1506del (p.Glu502fs)
|
rs2140239392
|
|
|
NM_015915.5(ATL1):c.1511G>A (p.Gly504Glu)
|
rs1242753115
|
|
|
NM_015915.5(ATL1):c.1511del (p.Gly504fs)
|
rs1566735903
|
|
|
NM_015915.5(ATL1):c.1512A>G (p.Gly504=)
|
|
|
|
NM_015915.5(ATL1):c.1514C>G (p.Ala505Gly)
|
rs2039543855
|
|
|
NM_015915.5(ATL1):c.1516del (p.Ala505_Val506insTer)
|
rs2140239426
|
|
|
NM_015915.5(ATL1):c.1518A>C (p.Val506=)
|
|
|
|
NM_015915.5(ATL1):c.1519A>G (p.Ile507Val)
|
rs2140239435
|
|
|
NM_015915.5(ATL1):c.1519dup (p.Ile507fs)
|
rs863223314
|
|
|
NM_015915.5(ATL1):c.1523A>C (p.Asp508Ala)
|
|
|
|
NM_015915.5(ATL1):c.1543T>C (p.Trp515Arg)
|
rs2140239458
|
|
|
NM_015915.5(ATL1):c.1546G>A (p.Asp516Asn)
|
rs776441162
|
|
|
NM_015915.5(ATL1):c.1551+10C>T
|
|
|
|
NM_015915.5(ATL1):c.1552-24_1552-20del
|
rs202061961
|
|
|
NM_015915.5(ATL1):c.1552-68_1552-67insATA
|
rs3080581
|
|
|
NM_015915.5(ATL1):c.1552G>A (p.Gly518Arg)
|
|
|
|
NM_015915.5(ATL1):c.1566+10A>T
|
|
|
|
NM_015915.5(ATL1):c.1566+10dup
|
|
|
|
NM_015915.5(ATL1):c.1566+1G>C
|
|
|
|
NM_015915.5(ATL1):c.1566+2dup
|
rs2039564321
|
|
|
NM_015915.5(ATL1):c.1567-12del
|
|
|
|
NM_015915.5(ATL1):c.1567-13G>A
|
|
|
|
NM_015915.5(ATL1):c.1567-14T>C
|
rs886050532
|
|
|
NM_015915.5(ATL1):c.1567-18T>C
|
rs763509651
|
|
|
NM_015915.5(ATL1):c.1572G>C (p.Leu524Phe)
|
|
|
|
NM_015915.5(ATL1):c.1573T>C (p.Tyr525His)
|
rs766795888
|
|
|
NM_015915.5(ATL1):c.1602C>A (p.His534Gln)
|
|
|
|
NM_015915.5(ATL1):c.1605A>C (p.Arg535Ser)
|
|
|
|
NM_015915.5(ATL1):c.1611G>C (p.Leu537=)
|
|
|
|
NM_015915.5(ATL1):c.1612T>A (p.Tyr538Asn)
|
|
|
|
NM_015915.5(ATL1):c.1631C>T (p.Thr544Ile)
|
rs2140243100
|
|
|
NM_015915.5(ATL1):c.1637A>G (p.Lys546Arg)
|
|
|
|
NM_015915.5(ATL1):c.1638G>C (p.Lys546Asn)
|
rs141471168
|
|
|
NM_015915.5(ATL1):c.1639T>G (p.Ser547Ala)
|
|
|
|
NM_015915.5(ATL1):c.1650T>A (p.Thr550=)
|
rs1486848170
|
|
|
NM_015915.5(ATL1):c.1663A>G (p.Lys555Glu)
|
rs2039590846
|
|
|
NM_015915.5(ATL1):c.1665G>T (p.Lys555Asn)
|
|
|
|
NM_015915.5(ATL1):c.1673T>A (p.Met558Lys)
|
rs1351389277
|
|
|
NM_015915.5(ATL1):c.1673T>C (p.Met558Thr)
|
rs1351389277
|
|
|
NM_015915.5(ATL1):c.1673T>G (p.Met558Arg)
|
|
|
|
NM_015915.5(ATL1):c.1674G>A (p.Met558Ile)
|
|
|
|
NM_015915.5(ATL1):c.1676A>G (p.Ter559=)
|
rs1442353711
|
|
|
NM_015915.5(ATL1):c.177G>A (p.Ser59=)
|
|
|
|
NM_015915.5(ATL1):c.177G>C (p.Ser59=)
|
rs201580688
|
|
|
NM_015915.5(ATL1):c.178G>C (p.Glu60Gln)
|
rs2140201888
|
|
|
NM_015915.5(ATL1):c.179A>C (p.Glu60Ala)
|
|
|
|
NM_015915.5(ATL1):c.182C>T (p.Ala61Val)
|
|
|
|
NM_015915.5(ATL1):c.192C>T (p.Asp64=)
|
|
|
|
NM_015915.5(ATL1):c.196G>A (p.Glu66Lys)
|
rs200314808
|
|
|
NM_015915.5(ATL1):c.196G>C (p.Glu66Gln)
|
rs200314808
|
|
|
NM_015915.5(ATL1):c.206C>T (p.Ala69Val)
|
rs2140201934
|
|
|
NM_015915.5(ATL1):c.210A>G (p.Val70=)
|
|
|
|
NM_015915.5(ATL1):c.22A>C (p.Arg8=)
|
|
|
|
NM_015915.5(ATL1):c.249G>A (p.Leu83=)
|
|
|
|
NM_015915.5(ATL1):c.254A>G (p.Asp85Gly)
|
rs2140201974
|
|
|
NM_015915.5(ATL1):c.261G>A (p.Met87Ile)
|
|
|
|
NM_015915.5(ATL1):c.268T>C (p.Tyr90His)
|
|
|
|
NM_015915.5(ATL1):c.26A>G (p.Asn9Ser)
|
|
|
|
NM_015915.5(ATL1):c.271A>C (p.Met91Leu)
|
|
|
|
NM_015915.5(ATL1):c.271A>G (p.Met91Val)
|
|
|
|
NM_015915.5(ATL1):c.282+15C>G
|
rs764492146
|
|
|
NM_015915.5(ATL1):c.282+15C>T
|
|
|
|
NM_015915.5(ATL1):c.282+18T>G
|
|
|
|
NM_015915.5(ATL1):c.282G>A (p.Gln94=)
|
|
|
|
NM_015915.5(ATL1):c.282G>C (p.Gln94His)
|
rs2140202008
|
|
|
NM_015915.5(ATL1):c.283-16C>G
|
|
|
|
NM_015915.5(ATL1):c.283-20T>C
|
|
|
|
NM_015915.5(ATL1):c.283-20del
|
|
|
|
NM_015915.5(ATL1):c.283-8T>C
|
|
|
|
NM_015915.5(ATL1):c.293A>G (p.Asp98Gly)
|
rs2039150193
|
|
|
NM_015915.5(ATL1):c.298G>T (p.Val100Phe)
|
rs2039150272
|
|
|
NM_015915.5(ATL1):c.308A>G (p.Tyr103Cys)
|
|
|
|
NM_015915.5(ATL1):c.317C>G (p.Pro106Arg)
|
|
|
|
NM_015915.5(ATL1):c.318A>T (p.Pro106=)
|
rs2140204833
|
|
|
NM_015915.5(ATL1):c.336G>A (p.Trp112Ter)
|
|
|
|
NM_015915.5(ATL1):c.34+10A>G
|
rs2140173150
|
|
|
NM_015915.5(ATL1):c.34+16G>A
|
rs368925590
|
|
|
NM_015915.5(ATL1):c.34+16G>C
|
|
|
|
NM_015915.5(ATL1):c.34+16G>T
|
|
|
|
NM_015915.5(ATL1):c.34+3G>C
|
|
|
|
NM_015915.5(ATL1):c.34+6T>G
|
|
|
|
NM_015915.5(ATL1):c.341G>T (p.Gly114Val)
|
rs2140204855
|
|
|
NM_015915.5(ATL1):c.348T>C (p.Ser116=)
|
|
|
|
NM_015915.5(ATL1):c.349G>C (p.Glu117Gln)
|
|
|
|
NM_015915.5(ATL1):c.35-10T>C
|
rs2140201641
|
|
|
NM_015915.5(ATL1):c.35-11C>A
|
rs2039116866
|
|
|
NM_015915.5(ATL1):c.35-15T>C
|
|
|
|
NM_015915.5(ATL1):c.35-16C>T
|
|
|
|
NM_015915.5(ATL1):c.35-1G>A
|
|
|
|
NM_015915.5(ATL1):c.35-3C>T
|
rs1595597911
|
|
|
NM_015915.5(ATL1):c.35-8T>C
|
|
|
|
NM_015915.5(ATL1):c.353G>A (p.Arg118Gln)
|
rs606231265
|
|
|
NM_015915.5(ATL1):c.354A>G (p.Arg118=)
|
|
|
|
NM_015915.5(ATL1):c.35G>A (p.Gly12Asp)
|
|
|
|
NM_015915.5(ATL1):c.373A>G (p.Ile125Val)
|
rs1566723956
|
|
|
NM_015915.5(ATL1):c.375A>G (p.Ile125Met)
|
|
|
|
NM_015915.5(ATL1):c.38G>C (p.Gly13Ala)
|
rs2140201659
|
|
|
NM_015915.5(ATL1):c.391C>T (p.Leu131Phe)
|
rs1056287593
|
|
|
NM_015915.5(ATL1):c.409G>T (p.Gly137Cys)
|
rs772400647
|
|
|
NM_015915.5(ATL1):c.412A>G (p.Lys138Glu)
|
|
|
|
NM_015915.5(ATL1):c.417+23_417+27del
|
|
|
|
NM_015915.5(ATL1):c.417G>T (p.Lys139Asn)
|
|
|
|
NM_015915.5(ATL1):c.418-14C>G
|
|
|
|
NM_015915.5(ATL1):c.418-19G>A
|
|
|
|
NM_015915.5(ATL1):c.418-19G>T
|
rs2934684
|
|
|
NM_015915.5(ATL1):c.421G>T (p.Ala141Ser)
|
|
|
|
NM_015915.5(ATL1):c.426G>A (p.Val142=)
|
rs2140205389
|
|
|
NM_015915.5(ATL1):c.444G>A (p.Gln148=)
|
|
|
|
NM_015915.5(ATL1):c.450C>A (p.Thr150=)
|
|
|
|
NM_015915.5(ATL1):c.452T>C (p.Phe151Ser)
|
|
|
|
NM_015915.5(ATL1):c.458G>C (p.Ser153Thr)
|
|
|
|
NM_015915.5(ATL1):c.460C>G (p.Gln154Glu)
|
|
|
|
NM_015915.5(ATL1):c.461A>G (p.Gln154Arg)
|
rs1060502971
|
|
|
NM_015915.5(ATL1):c.463T>C (p.Ser155Pro)
|
|
|
|
NM_015915.5(ATL1):c.466A>C (p.Thr156Pro)
|
rs2140205433
|
|
|
NM_015915.5(ATL1):c.467C>T (p.Thr156Ile)
|
rs137852657
|
|
|
NM_015915.5(ATL1):c.470T>C (p.Leu157Ser)
|
rs119476051
|
|
|
NM_015915.5(ATL1):c.470T>G (p.Leu157Trp)
|
rs119476051
|
|
|
NM_015915.5(ATL1):c.471G>T (p.Leu157Phe)
|
rs2140205438
|
|
|
NM_015915.5(ATL1):c.473G>T (p.Arg158Ile)
|
rs2039158855
|
|
|
NM_015915.5(ATL1):c.478T>C (p.Ser160Pro)
|
rs886041897
|
|
|
NM_015915.5(ATL1):c.481G>T (p.Ala161Ser)
|
rs1555363969
|
|
|
NM_015915.5(ATL1):c.482C>T (p.Ala161Val)
|
rs2140205448
|
|
|
NM_015915.5(ATL1):c.488T>C (p.Val163Ala)
|
rs1595600383
|
|
|
NM_015915.5(ATL1):c.48A>C (p.Glu16Asp)
|
|
|
|
NM_015915.5(ATL1):c.521del (p.Gln174fs)
|
|
|
|
NM_015915.5(ATL1):c.522+10A>G
|
rs1238847891
|
|
|
NM_015915.5(ATL1):c.522+15C>T
|
rs2140205538
|
|
|
NM_015915.5(ATL1):c.522+19T>C
|
rs748226901
|
|
|
NM_015915.5(ATL1):c.522+19T>G
|
rs748226901
|
|
|
NM_015915.5(ATL1):c.522+1G>T
|
|
|
|
NM_015915.5(ATL1):c.522+25_522+27del
|
|
|
|
NM_015915.5(ATL1):c.522+5G>A
|
|
|
|
NM_015915.5(ATL1):c.531C>T (p.Asn177=)
|
|
|
|
NM_015915.5(ATL1):c.536C>A (p.Ser179Tyr)
|
rs1555364149
|
|
|
NM_015915.5(ATL1):c.540A>C (p.Gln180His)
|
rs1595602064
|
|
|
NM_015915.5(ATL1):c.54A>G (p.Thr18=)
|
|
|
|
NM_015915.5(ATL1):c.552G>A (p.Glu184=)
|
|
|
|
NM_015915.5(ATL1):c.55T>A (p.Tyr19Asn)
|
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|
|
NM_015915.5(ATL1):c.565C>G (p.His189Asp)
|
rs2140208127
|
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NM_015915.5(ATL1):c.568C>T (p.Leu190Phe)
|
rs2140208137
|
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NM_015915.5(ATL1):c.56_57del (p.Thr18_Tyr19insTer)
|
|
|
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NM_015915.5(ATL1):c.570C>A (p.Leu190=)
|
rs202173614
|
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NM_015915.5(ATL1):c.572A>G (p.Gln191Arg)
|
rs1566725003
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NM_015915.5(ATL1):c.573+14T>C
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NM_015915.5(ATL1):c.573+24dup
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NM_015915.5(ATL1):c.574-14A>G
|
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NM_015915.5(ATL1):c.574-19T>C
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NM_015915.5(ATL1):c.574-20G>A
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NM_015915.5(ATL1):c.574-57TC[11]
|
rs3834518
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NM_015915.5(ATL1):c.574-5del
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NM_015915.5(ATL1):c.574-6T>C
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NM_015915.5(ATL1):c.574C>A (p.Leu192Ile)
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NM_015915.5(ATL1):c.574C>G (p.Leu192Val)
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NM_015915.5(ATL1):c.574C>T (p.Leu192Phe)
|
rs2039208042
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NM_015915.5(ATL1):c.575T>A (p.Leu192His)
|
rs2140209847
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NM_015915.5(ATL1):c.576T>G (p.Leu192=)
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NM_015915.5(ATL1):c.578T>G (p.Phe193Cys)
|
rs17850683
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NM_015915.5(ATL1):c.582T>G (p.Thr194=)
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NM_015915.5(ATL1):c.583G>A (p.Glu195Lys)
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NM_015915.5(ATL1):c.584A>C (p.Glu195Ala)
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NM_015915.5(ATL1):c.587A>G (p.Tyr196Cys)
|
rs1555364246
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NM_015915.5(ATL1):c.594A>C (p.Arg198Ser)
|
rs1555364247
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NM_015915.5(ATL1):c.596T>A (p.Leu199Gln)
|
rs797045004
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NM_015915.5(ATL1):c.60A>G (p.Glu20=)
|
rs2039117245
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NM_015915.5(ATL1):c.61T>C (p.Trp21Arg)
|
rs1566722905
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NM_015915.5(ATL1):c.630+15A>T
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NM_015915.5(ATL1):c.630+6C>A
|
rs886050531
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NM_015915.5(ATL1):c.630+9G>A
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NM_015915.5(ATL1):c.631-20C>G
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NM_015915.5(ATL1):c.631-7T>G
|
rs186528086
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NM_015915.5(ATL1):c.631-9_631-7del
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NM_015915.5(ATL1):c.633T>C (p.Ser211=)
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NM_015915.5(ATL1):c.634C>T (p.Leu212=)
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NM_015915.5(ATL1):c.650G>A (p.Arg217Gln)
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rs119476049
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NM_015915.5(ATL1):c.656G>A (p.Trp219Ter)
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NM_015915.5(ATL1):c.701A>T (p.Lys234Ile)
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NM_015915.5(ATL1):c.709G>A (p.Glu237Lys)
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NM_015915.5(ATL1):c.70G>C (p.Glu24Gln)
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NM_015915.5(ATL1):c.710A>G (p.Glu237Gly)
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NM_015915.5(ATL1):c.715C>T (p.Arg239Cys)
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rs119476046
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NM_015915.5(ATL1):c.716G>A (p.Arg239His)
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rs1241621325
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NM_015915.5(ATL1):c.716G>T (p.Arg239Leu)
|
rs1241621325
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NM_015915.5(ATL1):c.723+10A>C
|
rs759370589
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NM_015915.5(ATL1):c.723+3_723+19del
|
rs1461170744
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NM_015915.5(ATL1):c.724-9T>G
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NM_015915.5(ATL1):c.731G>T (p.Gly244Val)
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rs2039394970
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NM_015915.5(ATL1):c.735C>T (p.Asn245=)
|
rs2140226881
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NM_015915.5(ATL1):c.740A>G (p.His247Arg)
|
rs2140226883
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NM_015915.5(ATL1):c.741T>G (p.His247Gln)
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NM_015915.5(ATL1):c.749T>C (p.Leu250Pro)
|
rs2140226894
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NM_015915.5(ATL1):c.749T>G (p.Leu250Arg)
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NM_015915.5(ATL1):c.751C>A (p.Gln251Lys)
|
rs1595615134
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NM_015915.5(ATL1):c.754A>C (p.Asn252His)
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rs2140226902
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NM_015915.5(ATL1):c.756C>A (p.Asn252Lys)
|
rs771031586
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NM_015915.5(ATL1):c.757G>A (p.Val253Ile)
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rs864622520
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NM_015915.5(ATL1):c.757G>C (p.Val253Leu)
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NM_015915.5(ATL1):c.757G>T (p.Val253Phe)
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NM_015915.5(ATL1):c.763A>G (p.Lys255Glu)
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NM_015915.5(ATL1):c.766C>G (p.His256Asp)
|
rs2140226921
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NM_015915.5(ATL1):c.773A>C (p.His258Pro)
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NM_015915.5(ATL1):c.773A>G (p.His258Arg)
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rs119476048
|
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NM_015915.5(ATL1):c.773A>T (p.His258Leu)
|
rs119476048
|
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NM_015915.5(ATL1):c.776C>A (p.Ser259Tyr)
|
rs119476047
|
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NM_015915.5(ATL1):c.776C>T (p.Ser259Phe)
|
rs119476047
|
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NM_015915.5(ATL1):c.781_782insA (p.Phe261fs)
|
rs1181733510
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NM_015915.5(ATL1):c.788A>G (p.Asn263Ser)
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NM_015915.5(ATL1):c.860A>G (p.Lys287Arg)
|
rs1324131690
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NM_015915.5(ATL1):c.862+15A>G
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NM_015915.5(ATL1):c.862+3T>G
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NM_015915.5(ATL1):c.862+4T>G
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NM_015915.5(ATL1):c.863-12T>C
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NM_015915.5(ATL1):c.863-3T>C
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NM_015915.5(ATL1):c.864A>C (p.Glu288Asp)
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NM_015915.5(ATL1):c.86T>C (p.Val29Ala)
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rs2140201745
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NM_015915.5(ATL1):c.874G>A (p.Glu292Lys)
|
rs1360619786
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NM_015915.5(ATL1):c.875A>G (p.Glu292Gly)
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NM_015915.5(ATL1):c.884A>G (p.Lys295Arg)
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NM_015915.5(ATL1):c.898C>A (p.Leu300Met)
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NM_015915.5(ATL1):c.916A>G (p.Ser306Gly)
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NM_015915.5(ATL1):c.918T>G (p.Ser306Arg)
|
rs2039458848
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NM_015915.5(ATL1):c.924G>C (p.Glu308Asp)
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NM_015915.5(ATL1):c.935T>C (p.Ile312Thr)
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NM_015915.5(ATL1):c.940G>T (p.Glu314Ter)
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NM_015915.5(ATL1):c.947A>G (p.Asn316Ser)
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NM_015915.5(ATL1):c.971G>A (p.Gly324Asp)
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rs368143849
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NM_015915.5(ATL1):c.988A>T (p.Lys330Ter)
|
rs786205487
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NM_015915.5(ATL1):c.990+14T>C
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NM_015915.5(ATL1):c.990+19G>C
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NM_015915.5(ATL1):c.990+20A>G
|
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NM_015915.5(ATL1):c.990+9C>G
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NM_015915.5(ATL1):c.991-12_991-11del
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NM_015915.5(ATL1):c.991-12_991-11insA
|
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NM_015915.5(ATL1):c.991-13dup
|
rs760671844
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NM_015915.5(ATL1):c.991-16T>C
|
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NM_015915.5(ATL1):c.991-19T>A
|
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NM_015915.5(ATL1):c.991-3del
|
rs753642042
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NM_015915.5(ATL1):c.991-3dup
|
rs753642042
|
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NM_015915.5(ATL1):c.995A>C (p.Tyr332Ser)
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NM_015915.5(ATL1):c.996T>C (p.Tyr332=)
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NM_016107.5(ZFR):c.2072A>C (p.His691Pro)
|
rs767783043
|
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NM_016525.5(UBAP1):c.1169C>T (p.Pro390Leu)
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NM_016525.5(UBAP1):c.1265A>G (p.Gln422Arg)
|
rs1227081826
|
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NM_016525.5(UBAP1):c.1364_1368delAAAAG (p.Glu455fs)
|
rs2131638399
|
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NM_016525.5(UBAP1):c.247_248insGTGAATTC (p.Ile83fs)
|
rs1587878722
|
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NM_016525.5(UBAP1):c.286_290dup (p.Glu97fs)
|
rs1563919973
|
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NM_016525.5(UBAP1):c.293del (p.Gly98fs)
|
rs2131620305
|
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NM_016525.5(UBAP1):c.295dup (p.Asp99fs)
|
rs1563920000
|
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NM_016525.5(UBAP1):c.304A>T (p.Met102Leu)
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NM_016525.5(UBAP1):c.316A>T (p.Lys106Ter)
|
rs1587878961
|
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NM_016525.5(UBAP1):c.361dup (p.Leu121fs)
|
rs1563920132
|
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NM_016525.5(UBAP1):c.373C>T (p.Gln125Ter)
|
rs1563920172
|
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NM_016525.5(UBAP1):c.426_427del (p.Lys143fs)
|
rs1563920252
|
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NM_016525.5(UBAP1):c.436_437insTGAG (p.Ser146fs)
|
rs1563920268
|
|
|
NM_016525.5(UBAP1):c.476_477del (p.Asp158_Phe159insTer)
|
|
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|
NM_016525.5(UBAP1):c.478_482dup (p.Cys161fs)
|
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|
NM_016525.5(UBAP1):c.487G>T (p.Glu163Ter)
|
|
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|
NM_016525.5(UBAP1):c.526G>T (p.Glu176Ter)
|
rs1587879449
|
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NM_016525.5(UBAP1):c.535G>T (p.Glu179Ter)
|
rs1833955862
|
|
|
NM_016630.7(SPG21):c.*19T>A
|
rs758089289
|
|
|
NM_016630.7(SPG21):c.*63C>T
|
rs567604932
|
|
|
NM_016630.7(SPG21):c.*75=
|
|
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|
NM_016630.7(SPG21):c.-110C>T
|
rs544121455
|
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|
NM_016630.7(SPG21):c.-117C>G
|
rs369356785
|
|
|
NM_016630.7(SPG21):c.-241G>A
|
rs879839698
|
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NM_016630.7(SPG21):c.-241G>C
|
rs879839698
|
|
|
NM_016630.7(SPG21):c.-25+7del
|
rs2140462357
|
|
|
NM_016630.7(SPG21):c.-260A>C
|
rs886051332
|
|
|
NM_016630.7(SPG21):c.114C>A (p.Gly38=)
|
rs752992250
|
|
|
NM_016630.7(SPG21):c.118del (p.Arg40fs)
|
|
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|
NM_016630.7(SPG21):c.126C>T (p.Ile42=)
|
rs943751413
|
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NM_016630.7(SPG21):c.137_138del (p.Leu46fs)
|
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|
NM_016630.7(SPG21):c.145C>T (p.Leu49=)
|
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|
NM_016630.7(SPG21):c.153del (p.Val52fs)
|
rs2140441397
|
|
|
NM_016630.7(SPG21):c.157A>G (p.Ser53Gly)
|
|
|
|
NM_016630.7(SPG21):c.177T>C (p.Phe59=)
|
rs2085872082
|
|
|
NM_016630.7(SPG21):c.199A>T (p.Thr67Ser)
|
rs2140441198
|
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|
NM_016630.7(SPG21):c.222C>T (p.Ile74=)
|
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|
NM_016630.7(SPG21):c.226-1G>A
|
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NM_016630.7(SPG21):c.226-8T>G
|
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|
NM_016630.7(SPG21):c.304A>G (p.Lys102Glu)
|
rs2140431580
|
|
|
NM_016630.7(SPG21):c.307-7T>C
|
|
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|
NM_016630.7(SPG21):c.321C>T (p.Gly107=)
|
rs566278586
|
|
|
NM_016630.7(SPG21):c.322G>C (p.Ala108Pro)
|
rs587777315
|
|
|
NM_016630.7(SPG21):c.345_346del (p.Gln116fs)
|
rs2140427422
|
|
|
NM_016630.7(SPG21):c.357T>C (p.Ala119=)
|
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|
|
NM_016630.7(SPG21):c.467C>G (p.Pro156Arg)
|
rs2085634952
|
|
|
NM_016630.7(SPG21):c.479T>C (p.Leu160Pro)
|
|
|
|
NM_016630.7(SPG21):c.487del (p.Lys162_Ile163insTer)
|
rs970163893
|
|
|
NM_016630.7(SPG21):c.509C>T (p.Ser170Phe)
|
|
|
|
NM_016630.7(SPG21):c.50T>G (p.Val17Gly)
|
|
|
|
NM_016630.7(SPG21):c.525T>C (p.Pro175=)
|
rs1595869510
|
|
|
NM_016630.7(SPG21):c.54C>T (p.Pro18=)
|
|
|
|
NM_016630.7(SPG21):c.613C>T (p.Gln205Ter)
|
rs2140415380
|
|
|
NM_016630.7(SPG21):c.625G>A (p.Val209Met)
|
rs1339771718
|
|
|
NM_016630.7(SPG21):c.63+3A>T
|
rs1202820000
|
|
|
NM_016630.7(SPG21):c.64-19_64-15del
|
|
|
|
NM_016630.7(SPG21):c.702T>C (p.Ala234=)
|
|
|
|
NM_016630.7(SPG21):c.740G>C (p.Arg247Thr)
|
rs1595866120
|
|
|
NM_016630.7(SPG21):c.810+12C>T
|
rs2140405781
|
|
|
NM_016630.7(SPG21):c.810+4A>C
|
|
|
|
NM_016630.7(SPG21):c.811-4A>T
|
rs772074615
|
|
|
NM_016630.7(SPG21):c.814C>A (p.His272Asn)
|
rs371953772
|
|
|
NM_016630.7(SPG21):c.819G>T (p.Leu273Phe)
|
rs2140402170
|
|
|
NM_016630.7(SPG21):c.820C>A (p.Leu274Met)
|
rs534496682
|
|
|
NM_016630.7(SPG21):c.82G>C (p.Asp28His)
|
rs886051330
|
|
|
NM_016630.7(SPG21):c.844G>A (p.Ala282Thr)
|
|
|
|
NM_016630.7(SPG21):c.99G>T (p.Ser33=)
|
|
|
|
NM_020408.6(LYRM4):c.-11_-10dup
|
rs561083109
|
|
|
NM_020431.4(TMEM63C):c.1216del (p.Trp406fs)
|
rs2140127185
|
|
|
NM_020431.4(TMEM63C):c.1572dup (p.Tyr525fs)
|
rs2140129677
|
|
|
NM_020431.4(TMEM63C):c.1641_1656delinsGGC (p.Asn547fs)
|
rs2140130724
|
|
|
NM_020431.4(TMEM63C):c.585C>G (p.Tyr195Ter)
|
rs2140122740
|
|
|
NM_020435.4(GJC2):c.*5G>T
|
rs78587210
|
|
|
NM_020435.4(GJC2):c.108C>G (p.Ile36Met)
|
rs75469429
|
|
|
NM_020435.4(GJC2):c.1134_1144del (p.Ala379fs)
|
rs1571908452
|
|
|
NM_020435.4(GJC2):c.1141_1151del (p.Ser381fs)
|
rs2124967068
|
|
|
NM_020435.4(GJC2):c.1162G>C (p.Gly388Arg)
|
|
|
|
NM_020435.4(GJC2):c.1191T>C (p.Ala397=)
|
rs1417076615
|
|
|
NM_020435.4(GJC2):c.1254_1258delinsCG (p.Lys418_Arg420delinsAsnGly)
|
rs1553262641
|
|
|
NM_020435.4(GJC2):c.174G>T (p.Thr58=)
|
rs757481205
|
|
|
NM_020435.4(GJC2):c.184G>C (p.Gly62Arg)
|
|
|
|
NM_020435.4(GJC2):c.400G>A (p.Gly134Ser)
|
|
|
|
NM_020435.4(GJC2):c.436_462del (p.Pro146_Glu154del)
|
rs779077705
|
|
|
NM_020435.4(GJC2):c.454GAG[8] (p.Glu158dup)
|
rs746050475
|
|
|
NM_020435.4(GJC2):c.550_566del (p.Ala184fs)
|
rs758571008
|
|
|
NM_020533.3(MCOLN1):c.877G>A (p.Gly293Arg)
|
rs1599254675
|
|
|
NM_020631.6(PLEKHG5):c.773C>T (p.Pro258Leu)
|
rs910474236
|
|
|
NM_020738.4(KIDINS220):c.1022A>G (p.Lys341Arg)
|
|
|
|
NM_020738.4(KIDINS220):c.1462G>A (p.Gly488Arg)
|
|
|
|
NM_020738.4(KIDINS220):c.2164C>T (p.Gln722Ter)
|
|
|
|
NM_020738.4(KIDINS220):c.2294A>G (p.Asn765Ser)
|
|
|
|
NM_020738.4(KIDINS220):c.2370+5G>A
|
|
|
|
NM_020738.4(KIDINS220):c.2428A>G (p.Ile810Val)
|
rs1671352434
|
|
|
NM_020738.4(KIDINS220):c.256A>T (p.Ile86Phe)
|
|
|
|
NM_020738.4(KIDINS220):c.2593G>A (p.Val865Ile)
|
|
|
|
NM_020738.4(KIDINS220):c.2987T>G (p.Met996Arg)
|
rs1376895839
|
|
|
NM_020738.4(KIDINS220):c.3395dup (p.His1133fs)
|
|
|
|
NM_020738.4(KIDINS220):c.3415-4A>G
|
rs1666821581
|
|
|
NM_020738.4(KIDINS220):c.346C>T (p.Arg116Cys)
|
|
|
|
NM_020738.4(KIDINS220):c.3529-5G>T
|
|
|
|
NM_020738.4(KIDINS220):c.3991G>T (p.Glu1331Ter)
|
rs1664428695
|
|
|
NM_020738.4(KIDINS220):c.3991delinsAGCCCTACACACTCAAC (p.Glu1331fs)
|
|
|
|
NM_020738.4(KIDINS220):c.4050G>A (p.Trp1350Ter)
|
rs1057519300
|
|
|
NM_020738.4(KIDINS220):c.4053+1G>A
|
|
|
|
NM_020738.4(KIDINS220):c.4053+1G>T
|
rs1664419023
|
|
|
NM_020738.4(KIDINS220):c.4096C>T (p.Gln1366Ter)
|
rs1057519301
|
|
|
NM_020738.4(KIDINS220):c.4138C>T (p.Gln1380Ter)
|
rs1553305080
|
|
|
NM_020738.4(KIDINS220):c.4169A>G (p.Tyr1390Cys)
|
|
|
|
NM_020738.4(KIDINS220):c.4213_4216dup (p.Ile1406fs)
|
|
|
|
NM_020738.4(KIDINS220):c.4388C>A (p.Ser1463Ter)
|
rs2147945457
|
|
|
NM_020738.4(KIDINS220):c.4389_4390del (p.Val1465fs)
|
rs2147945425
|
|
|
NM_020738.4(KIDINS220):c.4412delinsAAG (p.Ser1471Ter)
|
|
|
|
NM_020738.4(KIDINS220):c.4417dup (p.Leu1473fs)
|
rs34141362
|
|
|
NM_020738.4(KIDINS220):c.4520dup (p.Leu1507fs)
|
rs1057519302
|
|
|
NM_020738.4(KIDINS220):c.4549C>T (p.Gln1517Ter)
|
rs1664085645
|
|
|
NM_020738.4(KIDINS220):c.4550A>G (p.Gln1517Arg)
|
|
|
|
NM_020738.4(KIDINS220):c.4631A>G (p.Lys1544Arg)
|
|
|
|
NM_020738.4(KIDINS220):c.4654G>A (p.Val1552Met)
|
|
|
|
NM_020738.4(KIDINS220):c.4787A>G (p.Asn1596Ser)
|
rs2147943225
|
|
|
NM_020738.4(KIDINS220):c.4822C>T (p.Gln1608Ter)
|
|
|
|
NM_020738.4(KIDINS220):c.4835C>A (p.Ala1612Glu)
|
|
|
|
NM_020738.4(KIDINS220):c.4850T>C (p.Leu1617Pro)
|
rs1664034594
|
|
|
NM_020738.4(KIDINS220):c.5032C>T (p.Arg1678Ter)
|
|
|
|
NM_020738.4(KIDINS220):c.5079_5080del (p.Asn1693fs)
|
rs1131692229
|
|
|
NM_020738.4(KIDINS220):c.517C>T (p.Pro173Ser)
|
|
|
|
NM_020738.4(KIDINS220):c.560A>G (p.Lys187Arg)
|
|
|
|
NM_020738.4(KIDINS220):c.578_579delinsTT (p.Gly193Val)
|
rs1675445207
|
|
|
NM_020738.4(KIDINS220):c.856C>T (p.Arg286Ter)
|
|
|
|
NM_020738.4(KIDINS220):c.876T>G (p.Tyr292Ter)
|
|
|
|
NM_020738.4(KIDINS220):c.89A>T (p.Asp30Val)
|
|
|
|
NM_020738.4(KIDINS220):c.900+5G>A
|
rs772773265
|
|
|
NM_020738.4(KIDINS220):c.959A>G (p.Asp320Gly)
|
|
|
|
NM_020771.4(HACE1):c.1015A>G (p.Ser339Gly)
|
|
|
|
NM_020771.4(HACE1):c.1346C>G (p.Ala449Gly)
|
rs2114797044
|
|
|
NM_020771.4(HACE1):c.1351C>T (p.Arg451Trp)
|
rs1455900509
|
|
|
NM_020771.4(HACE1):c.1443C>A (p.Cys481Ter)
|
rs2114793034
|
|
|
NM_020771.4(HACE1):c.145CTA[1] (p.Leu50del)
|
|
|
|
NM_020771.4(HACE1):c.152C>G (p.Ser51Ter)
|
|
|
|
NM_020771.4(HACE1):c.1631T>C (p.Met544Thr)
|
|
|
|
NM_020771.4(HACE1):c.1712C>A (p.Ser571Ter)
|
rs1582418143
|
|
|
NM_020771.4(HACE1):c.1759del (p.His587fs)
|
|
|
|
NM_020771.4(HACE1):c.1852_1853del (p.Gln618fs)
|
rs751809418
|
|
|
NM_020771.4(HACE1):c.1865-2A>G
|
|
|
|
NM_020771.4(HACE1):c.2211+3_2211+6del
|
|
|
|
NM_020771.4(HACE1):c.2242C>T (p.Arg748Ter)
|
rs869025281
|
|
|
NM_020771.4(HACE1):c.2343+12del
|
|
|
|
NM_020771.4(HACE1):c.239G>A (p.Cys80Tyr)
|
rs1319508199
|
|
|
NM_020771.4(HACE1):c.240C>A (p.Cys80Ter)
|
rs761086584
|
|
|
NM_020771.4(HACE1):c.2443-5_2443-3del
|
rs72218235
|
|
|
NM_020771.4(HACE1):c.2487TCT[1] (p.Leu832del)
|
rs869025283
|
|
|
NM_020771.4(HACE1):c.281A>G (p.Gln94Arg)
|
|
|
|
NM_020771.4(HACE1):c.326+3A>C
|
|
|
|
NM_020771.4(HACE1):c.350T>C (p.Leu117Ser)
|
|
|
|
NM_020771.4(HACE1):c.355G>T (p.Glu119Ter)
|
rs2115167557
|
|
|
NM_020771.4(HACE1):c.402+5G>A
|
rs1316982922
|
|
|
NM_020771.4(HACE1):c.454C>T (p.Gln152Ter)
|
rs869025284
|
|
|
NM_020771.4(HACE1):c.535-686A>G
|
|
|
|
NM_020771.4(HACE1):c.77-17_77-16insTC
|
rs10635352
|
|
|
NM_020771.4(HACE1):c.859C>T (p.Gln287Ter)
|
|
|
|
NM_020919.4(ALS2):c.1145_1150del (p.His382_Ser383del)
|
rs750812960
|
|
|
NM_020919.4(ALS2):c.1359G>C (p.Gln453His)
|
rs796181791
|
|
|
NM_020919.4(ALS2):c.155A>G (p.His52Arg)
|
rs1694137525
|
|
|
NM_020919.4(ALS2):c.1855A>G (p.Arg619Gly)
|
rs773125812
|
|
|
NM_020919.4(ALS2):c.2583A>G (p.Ala861=)
|
rs1260262428
|
|
|
NM_020919.4(ALS2):c.802G>A (p.Ala268Thr)
|
rs2106088370
|
|
|
NM_020944.3(GBA2):c.-162G>A
|
rs2132025854
|
|
|
NM_020944.3(GBA2):c.1196G>C (p.Arg399Pro)
|
rs142607078
|
|
|
NM_020944.3(GBA2):c.1255T>G (p.Phe419Val)
|
|
|
|
NM_020944.3(GBA2):c.134G>C (p.Cys45Ser)
|
rs776346547
|
|
|
NM_020944.3(GBA2):c.1351C>T (p.Arg451Ter)
|
|
|
|
NM_020944.3(GBA2):c.1408del (p.Arg470fs)
|
|
|
|
NM_020944.3(GBA2):c.1471_1474dup (p.Thr492fs)
|
rs1588010939
|
|
|
NM_020944.3(GBA2):c.1507C>T (p.Pro503Ser)
|
|
|
|
NM_020944.3(GBA2):c.1602C>A (p.Tyr534Ter)
|
|
|
|
NM_020944.3(GBA2):c.1720C>T (p.Arg574Ter)
|
|
|
|
NM_020944.3(GBA2):c.1780G>C (p.Asp594His)
|
rs398123064
|
|
|
NM_020944.3(GBA2):c.2166_2176del (p.Gly722_Gln723insTer)
|
rs2131947494
|
|
|
NM_020944.3(GBA2):c.2248_2249del (p.Met750fs)
|
rs2131945469
|
|
|
NM_020944.3(GBA2):c.2506-2A>G
|
|
|
|
NM_020944.3(GBA2):c.2608C>T (p.Arg870Ter)
|
|
|
|
NM_020944.3(GBA2):c.2617C>T (p.Arg873Cys)
|
|
|
|
NM_020944.3(GBA2):c.2618G>A (p.Arg873His)
|
rs398123015
|
|
|
NM_020944.3(GBA2):c.363C>A (p.Tyr121Ter)
|
rs1588023668
|
|
|
NM_020944.3(GBA2):c.451+1G>A
|
rs769002624
|
|
|
NM_020944.3(GBA2):c.518G>A (p.Trp173Ter)
|
rs1588022768
|
|
|
NM_020944.3(GBA2):c.715dup (p.Tyr239fs)
|
|
|
|
NM_020944.3(GBA2):c.892G>A (p.Gly298Arg)
|
|
|
|
NM_021160.3(ABHD16A):c.1226T>G (p.Leu409Arg)
|
rs2151222951
|
|
|
NM_021160.3(ABHD16A):c.1307+1G>A
|
|
|
|
NM_021160.3(ABHD16A):c.260A>G (p.Tyr87Cys)
|
|
|
|
NM_021160.3(ABHD16A):c.340C>T (p.Arg114Ter)
|
rs2151256799
|
|
|
NM_021160.3(ABHD16A):c.362A>T (p.Asn121Ile)
|
rs1804466196
|
|
|
NM_021160.3(ABHD16A):c.835C>T (p.Gln279Ter)
|
rs2151231096
|
|
|
NM_021830.5(TWNK):c.1395A>C (p.Glu465Asp)
|
rs770345181
|
|
|
NM_021830.5(TWNK):c.1614C>T (p.Ile538=)
|
rs2133942190
|
|
|
NM_021830.5(TWNK):c.1711G>A (p.Ala571Thr)
|
rs2133942468
|
|
|
NM_021830.5(TWNK):c.1972G>A (p.Gly658Arg)
|
rs868535097
|
|
|
NM_021830.5(TWNK):c.2045G>A (p.Arg682His)
|
rs182559752
|
|
|
NM_021830.5(TWNK):c.478C>T (p.Arg160Ter)
|
rs1851660058
|
|
|
NM_021870.3(FGG):c.1201C>T (p.Arg401Trp)
|
|
|
|
NM_022089.4(ATP13A2):c.-171G>C
|
rs1350517492
|
|
|
NM_022089.4(ATP13A2):c.10+13T>C
|
|
|
|
NM_022089.4(ATP13A2):c.10+14C>T
|
|
|
|
NM_022089.4(ATP13A2):c.1023T>C (p.Asn341=)
|
|
|
|
NM_022089.4(ATP13A2):c.102C>T (p.Ser34=)
|
|
|
|
NM_022089.4(ATP13A2):c.1033_1034del (p.Leu345fs)
|
|
|
|
NM_022089.4(ATP13A2):c.1039+11A>G
|
rs2100994243
|
|
|
NM_022089.4(ATP13A2):c.1039+15C>G
|
|
|
|
NM_022089.4(ATP13A2):c.103G>A (p.Val35Met)
|
|
|
|
NM_022089.4(ATP13A2):c.1040-12G>A
|
|
|
|
NM_022089.4(ATP13A2):c.1040-13C>T
|
|
|
|
NM_022089.4(ATP13A2):c.1040-18C>T
|
|
|
|
NM_022089.4(ATP13A2):c.1040-1G>A
|
|
|
|
NM_022089.4(ATP13A2):c.1041A>T (p.Gly347=)
|
|
|
|
NM_022089.4(ATP13A2):c.1045_1046del (p.Ser349fs)
|
|
|
|
NM_022089.4(ATP13A2):c.106-13G>A
|
|
|
|
NM_022089.4(ATP13A2):c.106-20C>T
|
|
|
|
NM_022089.4(ATP13A2):c.1074G>A (p.Pro358=)
|
|
|
|
NM_022089.4(ATP13A2):c.1075G>A (p.Glu359Lys)
|
|
|
|
NM_022089.4(ATP13A2):c.1093T>C (p.Cys365Arg)
|
|
|
|
NM_022089.4(ATP13A2):c.1095T>C (p.Cys365=)
|
rs2100916560
|
|
|
NM_022089.4(ATP13A2):c.11-2A>G
|
|
|
|
NM_022089.4(ATP13A2):c.1105C>G (p.His369Asp)
|
rs2077158233
|
|
|
NM_022089.4(ATP13A2):c.1110G>T (p.Arg370=)
|
|
|
|
NM_022089.4(ATP13A2):c.1111C>T (p.Arg371Trp)
|
rs746292302
|
|
|
NM_022089.4(ATP13A2):c.1113del (p.His372fs)
|
rs1377055875
|
|
|
NM_022089.4(ATP13A2):c.1120C>A (p.Leu374Ile)
|
|
|
|
NM_022089.4(ATP13A2):c.1125C>T (p.Phe375=)
|
|
|
|
NM_022089.4(ATP13A2):c.1126T>C (p.Cys376Arg)
|
rs1570833382
|
|
|
NM_022089.4(ATP13A2):c.112A>G (p.Ser38Gly)
|
rs780883238
|
|
|
NM_022089.4(ATP13A2):c.1137C>G (p.Leu379=)
|
rs1026641789
|
|
|
NM_022089.4(ATP13A2):c.1145A>G (p.Gln382Arg)
|
|
|
|
NM_022089.4(ATP13A2):c.1157A>T (p.Tyr386Phe)
|
rs762628723
|
|
|
NM_022089.4(ATP13A2):c.1163G>A (p.Gly388Glu)
|
rs769588580
|
|
|
NM_022089.4(ATP13A2):c.1170C>A (p.His390Gln)
|
rs201661480
|
|
|
NM_022089.4(ATP13A2):c.1188C>T (p.Thr396=)
|
|
|
|
NM_022089.4(ATP13A2):c.1190G>A (p.Arg397His)
|
|
|
|
NM_022089.4(ATP13A2):c.1195+12G>C
|
|
|
|
NM_022089.4(ATP13A2):c.1195+19G>A
|
|
|
|
NM_022089.4(ATP13A2):c.1195+5G>A
|
|
|
|
NM_022089.4(ATP13A2):c.1195+7G>A
|
rs1407939803
|
|
|
NM_022089.4(ATP13A2):c.1196-17C>T
|
|
|
|
NM_022089.4(ATP13A2):c.1196G>A (p.Gly399Glu)
|
rs2100897670
|
|
|
NM_022089.4(ATP13A2):c.1208C>A (p.Ala403Glu)
|
rs373349384
|
|
|
NM_022089.4(ATP13A2):c.1215G>A (p.Gly405=)
|
|
|
|
NM_022089.4(ATP13A2):c.1215G>T (p.Gly405=)
|
rs763507619
|
|
|
NM_022089.4(ATP13A2):c.1218C>T (p.Gly406=)
|
rs796629683
|
|
|
NM_022089.4(ATP13A2):c.1219C>A (p.Leu407Met)
|
rs773702054
|
|
|
NM_022089.4(ATP13A2):c.1227C>G (p.Ser409Arg)
|
|
|
|
NM_022089.4(ATP13A2):c.1243C>A (p.Arg415=)
|
|
|
|
NM_022089.4(ATP13A2):c.1272C>A (p.His424Gln)
|
|
|
|
NM_022089.4(ATP13A2):c.1276A>G (p.Met426Val)
|
|
|
|
NM_022089.4(ATP13A2):c.1279A>G (p.Lys427Glu)
|
|
|
|
NM_022089.4(ATP13A2):c.1281G>A (p.Lys427=)
|
|
|
|
NM_022089.4(ATP13A2):c.1296dup (p.Ser433fs)
|
|
|
|
NM_022089.4(ATP13A2):c.1306+5G>A
|
rs786205056
|
|
|
NM_022089.4(ATP13A2):c.1306G>A (p.Ala436Thr)
|
rs1439546959
|
|
|
NM_022089.4(ATP13A2):c.1307-11T>C
|
|
|
|
NM_022089.4(ATP13A2):c.1307-20G>T
|
rs1161484444
|
|
|
NM_022089.4(ATP13A2):c.1307-8C>T
|
|
|
|
NM_022089.4(ATP13A2):c.1314C>T (p.Leu438=)
|
rs764435162
|
|
|
NM_022089.4(ATP13A2):c.1317C>T (p.Gly439=)
|
rs775625778
|
|
|
NM_022089.4(ATP13A2):c.1322T>C (p.Ile441Thr)
|
|
|
|
NM_022089.4(ATP13A2):c.1325_1333del (p.Tyr442_Ile444del)
|
|
|
|
NM_022089.4(ATP13A2):c.1346G>A (p.Arg449Gln)
|
|
|
|
NM_022089.4(ATP13A2):c.1351C>T (p.Arg451Trp)
|
|
|
|
NM_022089.4(ATP13A2):c.1353+16G>C
|
|
|
|
NM_022089.4(ATP13A2):c.1353+17G>T
|
|
|
|
NM_022089.4(ATP13A2):c.1353+18G>A
|
|
|
|
NM_022089.4(ATP13A2):c.1353G>A (p.Arg451=)
|
|
|
|
NM_022089.4(ATP13A2):c.1353_1353+1del
|
|
|
|
NM_022089.4(ATP13A2):c.1354-11C>T
|
|
|
|
NM_022089.4(ATP13A2):c.1354-12G>A
|
|
|
|
NM_022089.4(ATP13A2):c.1354-17A>C
|
|
|
|
NM_022089.4(ATP13A2):c.1354-7del
|
|
|
|
NM_022089.4(ATP13A2):c.1360C>G (p.Leu454Val)
|
rs2100884368
|
|
|
NM_022089.4(ATP13A2):c.1378del (p.Arg460fs)
|
|
|
|
NM_022089.4(ATP13A2):c.1380G>C (p.Arg460=)
|
|
|
|
NM_022089.4(ATP13A2):c.1382del (p.Ala461fs)
|
|
|
|
NM_022089.4(ATP13A2):c.1386C>T (p.Leu462=)
|
|
|
|
NM_022089.4(ATP13A2):c.13A>G (p.Ser5Gly)
|
rs2101131465
|
|
|
NM_022089.4(ATP13A2):c.1400T>A (p.Val467Glu)
|
|
|
|
NM_022089.4(ATP13A2):c.1422TGC[3] (p.Ala476_Met477insAla)
|
|
|
|
NM_022089.4(ATP13A2):c.1428C>T (p.Ala476=)
|
|
|
|
NM_022089.4(ATP13A2):c.1443G>A (p.Thr481=)
|
|
|
|
NM_022089.4(ATP13A2):c.1466G>A (p.Arg489Gln)
|
|
|
|
NM_022089.4(ATP13A2):c.1466G>T (p.Arg489Leu)
|
rs760567858
|
|
|
NM_022089.4(ATP13A2):c.1477A>C (p.Ile493Leu)
|
rs1570821678
|
|
|
NM_022089.4(ATP13A2):c.148T>C (p.Tyr50His)
|
rs2101123287
|
|
|
NM_022089.4(ATP13A2):c.1491C>T (p.His497=)
|
|
|
|
NM_022089.4(ATP13A2):c.1498C>T (p.Arg500Cys)
|
|
|
|
NM_022089.4(ATP13A2):c.1510G>C (p.Gly504Arg)
|
rs121918227
|
|
|
NM_022089.4(ATP13A2):c.1518G>A (p.Lys506=)
|
|
|
|
NM_022089.4(ATP13A2):c.1542+11A>G
|
rs1286184234
|
|
|
NM_022089.4(ATP13A2):c.1542+11A>T
|
|
|
|
NM_022089.4(ATP13A2):c.1542+13G>A
|
rs2100878532
|
|
|
NM_022089.4(ATP13A2):c.1542+13dup
|
rs1367928615
|
|
|
NM_022089.4(ATP13A2):c.1543-11G>A
|
|
|
|
NM_022089.4(ATP13A2):c.1543-14C>T
|
|
|
|
NM_022089.4(ATP13A2):c.1543-17C>A
|
|
|
|
NM_022089.4(ATP13A2):c.1543-17C>T
|
|
|
|
NM_022089.4(ATP13A2):c.1543-18C>T
|
|
|
|
NM_022089.4(ATP13A2):c.1543-7C>T
|
|
|
|
NM_022089.4(ATP13A2):c.1550C>T (p.Thr517Ile)
|
rs1057519291
|
|
|
NM_022089.4(ATP13A2):c.1564G>A (p.Gly522Ser)
|
|
|
|
NM_022089.4(ATP13A2):c.1570G>A (p.Asp524Asn)
|
|
|
|
NM_022089.4(ATP13A2):c.1589C>T (p.Pro530Leu)
|
rs2077019285
|
|
|
NM_022089.4(ATP13A2):c.1591C>G (p.Leu531Val)
|
rs2077019135
|
|
|
NM_022089.4(ATP13A2):c.1592T>C (p.Leu531Pro)
|
rs2100818906
|
|
|
NM_022089.4(ATP13A2):c.1594_1617dup (p.Lys532_Leu539dup)
|
rs766184032
|
|
|
NM_022089.4(ATP13A2):c.1609C>T (p.Leu537=)
|
|
|
|
NM_022089.4(ATP13A2):c.1621C>T (p.Pro541Ser)
|
|
|
|
NM_022089.4(ATP13A2):c.1649C>A (p.Pro550His)
|
rs1379076892
|
|
|
NM_022089.4(ATP13A2):c.165G>C (p.Trp55Cys)
|
|
|
|
NM_022089.4(ATP13A2):c.1662A>G (p.Ala554=)
|
|
|
|
NM_022089.4(ATP13A2):c.1662A>T (p.Ala554=)
|
rs1269279941
|
|
|
NM_022089.4(ATP13A2):c.1665G>A (p.Leu555=)
|
rs2100816612
|
|
|
NM_022089.4(ATP13A2):c.1668C>T (p.Ala556=)
|
|
|
|
NM_022089.4(ATP13A2):c.1685G>A (p.Ser562Asn)
|
rs2100815818
|
|
|
NM_022089.4(ATP13A2):c.1696G>A (p.Asp566Asn)
|
rs2100815502
|
|
|
NM_022089.4(ATP13A2):c.1701C>T (p.Thr567=)
|
|
|
|
NM_022089.4(ATP13A2):c.1705G>A (p.Val569Met)
|
|
|
|
NM_022089.4(ATP13A2):c.1713C>T (p.Asp571=)
|
|
|
|
NM_022089.4(ATP13A2):c.1720G>A (p.Asp574Asn)
|
|
|
|
NM_022089.4(ATP13A2):c.1749+12A>G
|
|
|
|
NM_022089.4(ATP13A2):c.1749+15C>G
|
|
|
|
NM_022089.4(ATP13A2):c.1749+5G>C
|
|
|
|
NM_022089.4(ATP13A2):c.1749+8G>T
|
|
|
|
NM_022089.4(ATP13A2):c.1750-11C>A
|
|
|
|
NM_022089.4(ATP13A2):c.1750-14T>C
|
|
|
|
NM_022089.4(ATP13A2):c.1750-20C>A
|
|
|
|
NM_022089.4(ATP13A2):c.1750-20C>G
|
rs1305686148
|
|
|
NM_022089.4(ATP13A2):c.1750-8C>T
|
|
|
|
NM_022089.4(ATP13A2):c.1762G>A (p.Glu588Lys)
|
rs1251315572
|
|
|
NM_022089.4(ATP13A2):c.1766C>A (p.Pro589Gln)
|
|
|
|
NM_022089.4(ATP13A2):c.1772C>T (p.Ala591Val)
|
rs758957419
|
|
|
NM_022089.4(ATP13A2):c.1780G>A (p.Ala594Thr)
|
|
|
|
NM_022089.4(ATP13A2):c.1795G>A (p.Val599Ile)
|
rs764411847
|
|
|
NM_022089.4(ATP13A2):c.1819C>G (p.Leu607Val)
|
|
|
|
NM_022089.4(ATP13A2):c.1825G>T (p.Glu609Ter)
|
|
|
|
NM_022089.4(ATP13A2):c.1837C>T (p.Gln613Ter)
|
rs2100785804
|
|
|
NM_022089.4(ATP13A2):c.1843A>G (p.Met615Val)
|
rs200529993
|
|
|
NM_022089.4(ATP13A2):c.1845+14G>A
|
|
|
|
NM_022089.4(ATP13A2):c.1845+15del
|
|
|
|
NM_022089.4(ATP13A2):c.1845+17C>T
|
rs912845832
|
|
|
NM_022089.4(ATP13A2):c.1846-2A>G
|
rs2100783138
|
|
|
NM_022089.4(ATP13A2):c.1853C>A (p.Pro618His)
|
|
|
|
NM_022089.4(ATP13A2):c.1859T>C (p.Val620Ala)
|
rs2100782693
|
|
|
NM_022089.4(ATP13A2):c.1887C>T (p.Pro629=)
|
|
|
|
NM_022089.4(ATP13A2):c.1893T>G (p.Ser631=)
|
|
|
|
NM_022089.4(ATP13A2):c.190C>T (p.Leu64Phe)
|
|
|
|
NM_022089.4(ATP13A2):c.1931C>G (p.Pro644Arg)
|
rs2100780847
|
|
|
NM_022089.4(ATP13A2):c.1932del (p.Ala646fs)
|
|
|
|
NM_022089.4(ATP13A2):c.1947C>G (p.Pro649=)
|
rs369722835
|
|
|
NM_022089.4(ATP13A2):c.1947C>T (p.Pro649=)
|
|
|
|
NM_022089.4(ATP13A2):c.1956C>T (p.Tyr652=)
|
|
|
|
NM_022089.4(ATP13A2):c.196C>G (p.Arg66Gly)
|
|
|
|
NM_022089.4(ATP13A2):c.1970del (p.Pro657fs)
|
|
|
|
NM_022089.4(ATP13A2):c.1971G>A (p.Pro657=)
|
|
|
|
NM_022089.4(ATP13A2):c.1989C>G (p.Leu663=)
|
|
|
|
NM_022089.4(ATP13A2):c.1999G>A (p.Glu667Lys)
|
|
|
|
NM_022089.4(ATP13A2):c.2005+10_2005+13dup
|
|
|
|
NM_022089.4(ATP13A2):c.2005+11A>G
|
|
|
|
NM_022089.4(ATP13A2):c.2005+13G>A
|
|
|
|
NM_022089.4(ATP13A2):c.2006-1G>C
|
|
|
|
NM_022089.4(ATP13A2):c.2006-20C>T
|
|
|
|
NM_022089.4(ATP13A2):c.2006-4G>T
|
|
|
|
NM_022089.4(ATP13A2):c.2006-7dup
|
|
|
|
NM_022089.4(ATP13A2):c.2006-9C>A
|
|
|
|
NM_022089.4(ATP13A2):c.2019C>T (p.Phe673=)
|
|
|
|
NM_022089.4(ATP13A2):c.2028G>T (p.Met676Ile)
|
|
|
|
NM_022089.4(ATP13A2):c.2045C>T (p.Ala682Val)
|
|
|
|
NM_022089.4(ATP13A2):c.2064G>C (p.Val688=)
|
|
|
|
NM_022089.4(ATP13A2):c.2082A>G (p.Pro694=)
|
rs1303061130
|
|
|
NM_022089.4(ATP13A2):c.2094G>A (p.Val698=)
|
|
|
|
NM_022089.4(ATP13A2):c.2097del (p.Ser700fs)
|
|
|
|
NM_022089.4(ATP13A2):c.20C>T (p.Pro7Leu)
|
rs2077535736
|
|
|
NM_022089.4(ATP13A2):c.2112C>T (p.Ala704=)
|
|
|
|
NM_022089.4(ATP13A2):c.2113C>T (p.Gln705Ter)
|
|
|
|
NM_022089.4(ATP13A2):c.2123C>T (p.Thr708Met)
|
|
|
|
NM_022089.4(ATP13A2):c.2126+11C>A
|
|
|
|
NM_022089.4(ATP13A2):c.2126+13C>T
|
|
|
|
NM_022089.4(ATP13A2):c.2126+19C>T
|
|
|
|
NM_022089.4(ATP13A2):c.2126+20C>T
|
rs2100772296
|
|
|
NM_022089.4(ATP13A2):c.2127-13G>A
|
|
|
|
NM_022089.4(ATP13A2):c.2127-2_2127-1delinsCC
|
|
|
|
NM_022089.4(ATP13A2):c.212G>C (p.Trp71Ser)
|
rs373607247
|
|
|
NM_022089.4(ATP13A2):c.2130C>A (p.Asp710Glu)
|
rs2076943011
|
|
|
NM_022089.4(ATP13A2):c.2134G>C (p.Val712Leu)
|
|
|
|
NM_022089.4(ATP13A2):c.2135_2136del (p.Val712fs)
|
rs2076942520
|
|
|
NM_022089.4(ATP13A2):c.2136G>A (p.Val712=)
|
rs1232417254
|
|
|
NM_022089.4(ATP13A2):c.213G>A (p.Trp71Ter)
|
|
|
|
NM_022089.4(ATP13A2):c.2146del (p.Asp715_Leu716insTer)
|
rs2100768788
|
|
|
NM_022089.4(ATP13A2):c.2147T>G (p.Leu716Arg)
|
|
|
|
NM_022089.4(ATP13A2):c.2151C>T (p.Ser717=)
|
rs544545629
|
|
|
NM_022089.4(ATP13A2):c.2178C>G (p.Asn726Lys)
|
|
|
|
NM_022089.4(ATP13A2):c.217del (p.Val73fs)
|
|
|
|
NM_022089.4(ATP13A2):c.217dup (p.Val73fs)
|
|
|
|
NM_022089.4(ATP13A2):c.2180T>C (p.Leu727Pro)
|
|
|
|
NM_022089.4(ATP13A2):c.2189C>T (p.Pro730Leu)
|
|
|
|
NM_022089.4(ATP13A2):c.218T>C (p.Val73Ala)
|
|
|
|
NM_022089.4(ATP13A2):c.2190G>A (p.Pro730=)
|
|
|
|
NM_022089.4(ATP13A2):c.2202A>G (p.Pro734=)
|
|
|
|
NM_022089.4(ATP13A2):c.2208C>G (p.Ile736Met)
|
rs1372021672
|
|
|
NM_022089.4(ATP13A2):c.2218C>G (p.Arg740Gly)
|
rs973767624
|
|
|
NM_022089.4(ATP13A2):c.2227C>T (p.Arg743Cys)
|
|
|
|
NM_022089.4(ATP13A2):c.2230A>G (p.Ile744Val)
|
rs1401459588
|
|
|
NM_022089.4(ATP13A2):c.2235C>T (p.Arg745=)
|
|
|
|
NM_022089.4(ATP13A2):c.2238C>T (p.Ala746=)
|
|
|
|
NM_022089.4(ATP13A2):c.2239G>A (p.Val747Ile)
|
|
|
|
NM_022089.4(ATP13A2):c.2251+11A>C
|
|
|
|
NM_022089.4(ATP13A2):c.2251+19G>A
|
|
|
|
NM_022089.4(ATP13A2):c.2251+20C>T
|
|
|
|
NM_022089.4(ATP13A2):c.2251+5A>G
|
|
|
|
NM_022089.4(ATP13A2):c.2252-12C>G
|
|
|
|
NM_022089.4(ATP13A2):c.2252-12C>T
|
|
|
|
NM_022089.4(ATP13A2):c.2252-18T>C
|
rs2076885723
|
|
|
NM_022089.4(ATP13A2):c.2252-7C>A
|
|
|
|
NM_022089.4(ATP13A2):c.2262G>A (p.Leu754=)
|
|
|
|
NM_022089.4(ATP13A2):c.227G>A (p.Arg76Gln)
|
|
|
|
NM_022089.4(ATP13A2):c.2305C>T (p.Pro769Ser)
|
|
|
|
NM_022089.4(ATP13A2):c.2309A>G (p.Gln770Arg)
|
rs77630788
|
|
|
NM_022089.4(ATP13A2):c.2310G>A (p.Gln770=)
|
|
|
|
NM_022089.4(ATP13A2):c.2325C>T (p.Ile775=)
|
|
|
|
NM_022089.4(ATP13A2):c.2326G>A (p.Val776Ile)
|
rs56170027
|
|
|
NM_022089.4(ATP13A2):c.2333C>G (p.Ala778Gly)
|
|
|
|
NM_022089.4(ATP13A2):c.2339A>C (p.His780Pro)
|
rs867014635
|
|
|
NM_022089.4(ATP13A2):c.2366_2367del (p.Leu789fs)
|
|
|
|
NM_022089.4(ATP13A2):c.2379G>A (p.Pro793=)
|
|
|
|
NM_022089.4(ATP13A2):c.2395G>A (p.Ala799Thr)
|
|
|
|
NM_022089.4(ATP13A2):c.2400G>C (p.Val800=)
|
|
|
|
NM_022089.4(ATP13A2):c.2400G>T (p.Val800=)
|
|
|
|
NM_022089.4(ATP13A2):c.2412+12C>G
|
|
|
|
NM_022089.4(ATP13A2):c.2413-1G>C
|
|
|
|
NM_022089.4(ATP13A2):c.2413-2A>G
|
|
|
|
NM_022089.4(ATP13A2):c.2417C>T (p.Pro806Leu)
|
rs2100727013
|
|
|
NM_022089.4(ATP13A2):c.2424G>A (p.Gln808=)
|
|
|
|
NM_022089.4(ATP13A2):c.2429C>T (p.Ala810Val)
|
|
|
|
NM_022089.4(ATP13A2):c.2451C>G (p.Asp817Glu)
|
|
|
|
NM_022089.4(ATP13A2):c.2454C>T (p.Pro818=)
|
rs2100725900
|
|
|
NM_022089.4(ATP13A2):c.2459C>G (p.Ser820Cys)
|
|
|
|
NM_022089.4(ATP13A2):c.2464C>T (p.His822Tyr)
|
rs2100725484
|
|
|
NM_022089.4(ATP13A2):c.2475C>G (p.Leu825=)
|
|
|
|
NM_022089.4(ATP13A2):c.2478C>G (p.Ser826Arg)
|
rs147611385
|
|
|
NM_022089.4(ATP13A2):c.2481G>T (p.Gly827=)
|
rs761620417
|
|
|
NM_022089.4(ATP13A2):c.2483C>T (p.Pro828Leu)
|
rs1235764815
|
|
|
NM_022089.4(ATP13A2):c.2488T>G (p.Phe830Val)
|
|
|
|
NM_022089.4(ATP13A2):c.24C>A (p.Leu8=)
|
rs1460426486
|
|
|
NM_022089.4(ATP13A2):c.2527A>C (p.Lys843Gln)
|
rs2100724045
|
|
|
NM_022089.4(ATP13A2):c.2529+10C>T
|
|
|
|
NM_022089.4(ATP13A2):c.2529+11C>T
|
|
|
|
NM_022089.4(ATP13A2):c.2529+13C>T
|
|
|
|
NM_022089.4(ATP13A2):c.2529+7C>T
|
rs2100723755
|
|
|
NM_022089.4(ATP13A2):c.2530-14C>A
|
rs759142662
|
|
|
NM_022089.4(ATP13A2):c.2538C>G (p.Val846=)
|
rs1365858933
|
|
|
NM_022089.4(ATP13A2):c.2539C>T (p.Gln847Ter)
|
|
|
|
NM_022089.4(ATP13A2):c.2544C>T (p.Gly848=)
|
rs769033175
|
|
|
NM_022089.4(ATP13A2):c.2548G>C (p.Val850Leu)
|
|
|
|
NM_022089.4(ATP13A2):c.2556C>T (p.Ala852=)
|
rs55889979
|
|
|
NM_022089.4(ATP13A2):c.2557C>G (p.Arg853Gly)
|
rs772243999
|
|
|
NM_022089.4(ATP13A2):c.256G>A (p.Glu86Lys)
|
|
|
|
NM_022089.4(ATP13A2):c.2580A>G (p.Thr860=)
|
rs1295653375
|
|
|
NM_022089.4(ATP13A2):c.2587del (p.Val863fs)
|
|
|
|
NM_022089.4(ATP13A2):c.258A>C (p.Glu86Asp)
|
|
|
|
NM_022089.4(ATP13A2):c.2593G>C (p.Glu865Gln)
|
|
|
|
NM_022089.4(ATP13A2):c.2609+11G>A
|
|
|
|
NM_022089.4(ATP13A2):c.2609+19G>T
|
|
|
|
NM_022089.4(ATP13A2):c.2609+1G>C
|
|
|
|
NM_022089.4(ATP13A2):c.2610-8C>T
|
|
|
|
NM_022089.4(ATP13A2):c.2621G>C (p.Gly874Ala)
|
|
|
|
NM_022089.4(ATP13A2):c.2652G>A (p.Gly884=)
|
|
|
|
NM_022089.4(ATP13A2):c.2652G>T (p.Gly884=)
|
|
|
|
NM_022089.4(ATP13A2):c.2664G>T (p.Ala888=)
|
|
|
|
NM_022089.4(ATP13A2):c.2675G>A (p.Gly892Asp)
|
|
|
|
NM_022089.4(ATP13A2):c.2682G>A (p.Ser894=)
|
rs767921922
|
|
|
NM_022089.4(ATP13A2):c.270C>T (p.Ile90=)
|
rs1348572920
|
|
|
NM_022089.4(ATP13A2):c.271G>A (p.Glu91Lys)
|
|
|
|
NM_022089.4(ATP13A2):c.2742G>A (p.Glu914=)
|
rs146234171
|
|
|
NM_022089.4(ATP13A2):c.2762+18C>T
|
|
|
|
NM_022089.4(ATP13A2):c.2762+19G>A
|
|
|
|
NM_022089.4(ATP13A2):c.2762+19G>C
|
rs779656439
|
|
|
NM_022089.4(ATP13A2):c.2762+9G>A
|
rs1570769698
|
|
|
NM_022089.4(ATP13A2):c.2763-4_2763-1del
|
|
|
|
NM_022089.4(ATP13A2):c.2763-8C>A
|
|
|
|
NM_022089.4(ATP13A2):c.2766G>T (p.Glu922Asp)
|
|
|
|
NM_022089.4(ATP13A2):c.2799C>T (p.Val933=)
|
|
|
|
NM_022089.4(ATP13A2):c.2805G>A (p.Lys935=)
|
|
|
|
NM_022089.4(ATP13A2):c.2829C>G (p.Thr943=)
|
|
|
|
NM_022089.4(ATP13A2):c.2835C>A (p.Phe945Leu)
|
|
|
|
NM_022089.4(ATP13A2):c.2841C>T (p.Ser947=)
|
|
|
|
NM_022089.4(ATP13A2):c.284A>G (p.Lys95Arg)
|
rs2101118952
|
|
|
NM_022089.4(ATP13A2):c.2858C>G (p.Thr953Arg)
|
rs148721722
|
|
|
NM_022089.4(ATP13A2):c.2858C>T (p.Thr953Met)
|
rs148721722
|
|
|
NM_022089.4(ATP13A2):c.2859G>T (p.Thr953=)
|
rs144557304
|
|
|
NM_022089.4(ATP13A2):c.2860-7G>A
|
rs2076770965
|
|
|
NM_022089.4(ATP13A2):c.2862C>A (p.Ile954=)
|
|
|
|
NM_022089.4(ATP13A2):c.2864A>G (p.Asn955Ser)
|
|
|
|
NM_022089.4(ATP13A2):c.2867C>G (p.Thr956Ser)
|
|
|
|
NM_022089.4(ATP13A2):c.2871C>T (p.Asn957=)
|
|
|
|
NM_022089.4(ATP13A2):c.288+12G>T
|
rs749064381
|
|
|
NM_022089.4(ATP13A2):c.288+13C>G
|
rs1300682662
|
|
|
NM_022089.4(ATP13A2):c.288+17G>T
|
|
|
|
NM_022089.4(ATP13A2):c.2888T>C (p.Phe963Ser)
|
rs2100659067
|
|
|
NM_022089.4(ATP13A2):c.289-12T>C
|
|
|
|
NM_022089.4(ATP13A2):c.289-13C>T
|
|
|
|
NM_022089.4(ATP13A2):c.289-3C>T
|
rs2101110558
|
|
|
NM_022089.4(ATP13A2):c.2898C>T (p.Ile966=)
|
|
|
|
NM_022089.4(ATP13A2):c.2899G>C (p.Asp967His)
|
rs772870846
|
|
|
NM_022089.4(ATP13A2):c.2905G>C (p.Val969Leu)
|
rs769445714
|
|
|
NM_022089.4(ATP13A2):c.2906T>C (p.Val969Ala)
|
|
|
|
NM_022089.4(ATP13A2):c.2907C>G (p.Val969=)
|
|
|
|
NM_022089.4(ATP13A2):c.2910CAC[2] (p.Thr973del)
|
|
|
|
NM_022089.4(ATP13A2):c.2927T>C (p.Val976Ala)
|
rs776148733
|
|
|
NM_022089.4(ATP13A2):c.2927T>G (p.Val976Gly)
|
rs776148733
|
|
|
NM_022089.4(ATP13A2):c.2954T>C (p.Leu985Pro)
|
|
|
|
NM_022089.4(ATP13A2):c.2958C>G (p.Val986=)
|
|
|
|
NM_022089.4(ATP13A2):c.2965C>T (p.Arg989Trp)
|
|
|
|
NM_022089.4(ATP13A2):c.2967G>A (p.Arg989=)
|
|
|
|
NM_022089.4(ATP13A2):c.2970_2971delinsAT (p.Arg991Trp)
|
rs2100656614
|
|
|
NM_022089.4(ATP13A2):c.2976A>C (p.Pro992=)
|
|
|
|
NM_022089.4(ATP13A2):c.2978C>G (p.Pro993Arg)
|
rs146559160
|
|
|
NM_022089.4(ATP13A2):c.2979G>A (p.Pro993=)
|
|
|
|
NM_022089.4(ATP13A2):c.2984C>T (p.Ala995Val)
|
|
|
|
NM_022089.4(ATP13A2):c.2991C>T (p.Leu997=)
|
|
|
|
NM_022089.4(ATP13A2):c.2T>G (p.Met1Arg)
|
rs1557729552
|
|
|
NM_022089.4(ATP13A2):c.3013C>T (p.Leu1005=)
|
|
|
|
NM_022089.4(ATP13A2):c.3039C>T (p.Thr1013=)
|
|
|
|
NM_022089.4(ATP13A2):c.3040G>C (p.Gly1014Arg)
|
|
|
|
NM_022089.4(ATP13A2):c.3041_3043dup (p.Gly1014dup)
|
rs2100654427
|
|
|
NM_022089.4(ATP13A2):c.3042C>T (p.Gly1014=)
|
rs1415173041
|
|
|
NM_022089.4(ATP13A2):c.3065T>C (p.Leu1022Pro)
|
rs2076761037
|
|
|
NM_022089.4(ATP13A2):c.3068C>T (p.Thr1023Ile)
|
rs951420437
|
|
|
NM_022089.4(ATP13A2):c.3080C>A (p.Pro1027Gln)
|
|
|
|
NM_022089.4(ATP13A2):c.3083+18dup
|
|
|
|
NM_022089.4(ATP13A2):c.3083+1G>C
|
|
|
|
NM_022089.4(ATP13A2):c.3083+2T>C
|
rs771581490
|
|
|
NM_022089.4(ATP13A2):c.3083+5G>A
|
|
|
|
NM_022089.4(ATP13A2):c.3084-10G>A
|
rs368908107
|
|
|
NM_022089.4(ATP13A2):c.3084-10G>T
|
rs368908107
|
|
|
NM_022089.4(ATP13A2):c.3084-20C>T
|
rs773787370
|
|
|
NM_022089.4(ATP13A2):c.3084-7C>A
|
|
|
|
NM_022089.4(ATP13A2):c.3084-7C>T
|
|
|
|
NM_022089.4(ATP13A2):c.3126G>C (p.Leu1042=)
|
|
|
|
NM_022089.4(ATP13A2):c.3135C>T (p.Tyr1045=)
|
|
|
|
NM_022089.4(ATP13A2):c.3136G>T (p.Glu1046Ter)
|
rs1557666781
|
|
|
NM_022089.4(ATP13A2):c.3144C>T (p.Thr1048=)
|
rs56126202
|
|
|
NM_022089.4(ATP13A2):c.3149TCT[1] (p.Phe1051del)
|
rs1057519290
|
|
|
NM_022089.4(ATP13A2):c.3151_3152del (p.Phe1051fs)
|
rs2076751251
|
|
|
NM_022089.4(ATP13A2):c.3153dup (p.Ser1052fs)
|
|
|
|
NM_022089.4(ATP13A2):c.3157_3158del (p.Leu1053fs)
|
rs1570759415
|
|
|
NM_022089.4(ATP13A2):c.3183G>A (p.Leu1061=)
|
|
|
|
NM_022089.4(ATP13A2):c.3184G>T (p.Ala1062Ser)
|
|
|
|
NM_022089.4(ATP13A2):c.3193G>T (p.Val1065Leu)
|
rs377431904
|
|
|
NM_022089.4(ATP13A2):c.3206C>A (p.Ala1069Glu)
|
rs764988645
|
|
|
NM_022089.4(ATP13A2):c.3206C>G (p.Ala1069Gly)
|
|
|
|
NM_022089.4(ATP13A2):c.3207G>T (p.Ala1069=)
|
|
|
|
NM_022089.4(ATP13A2):c.3222G>A (p.Pro1074=)
|
rs372993383
|
|
|
NM_022089.4(ATP13A2):c.3235+11G>C
|
|
|
|
NM_022089.4(ATP13A2):c.3235+14C>T
|
|
|
|
NM_022089.4(ATP13A2):c.3235+16_3235+21del
|
|
|
|
NM_022089.4(ATP13A2):c.3235+19G>A
|
|
|
|
NM_022089.4(ATP13A2):c.3236-13C>G
|
rs2076736733
|
|
|
NM_022089.4(ATP13A2):c.3236-19_3236-16del
|
|
|
|
NM_022089.4(ATP13A2):c.3239C>A (p.Pro1080His)
|
|
|
|
NM_022089.4(ATP13A2):c.3247G>C (p.Val1083Leu)
|
|
|
|
NM_022089.4(ATP13A2):c.3256G>A (p.Ala1086Thr)
|
|
|
|
NM_022089.4(ATP13A2):c.3270C>T (p.Ser1090=)
|
|
|
|
NM_022089.4(ATP13A2):c.3271G>A (p.Val1091Ile)
|
|
|
|
NM_022089.4(ATP13A2):c.3273C>G (p.Val1091=)
|
|
|
|
NM_022089.4(ATP13A2):c.3277G>C (p.Val1093Leu)
|
rs1057522952
|
|
|
NM_022089.4(ATP13A2):c.327T>C (p.Thr109=)
|
|
|
|
NM_022089.4(ATP13A2):c.3301C>T (p.Leu1101Phe)
|
rs886045577
|
|
|
NM_022089.4(ATP13A2):c.3314C>G (p.Pro1105Arg)
|
|
|
|
NM_022089.4(ATP13A2):c.3321G>A (p.Ala1107=)
|
rs751916254
|
|
|
NM_022089.4(ATP13A2):c.3343G>A (p.Gly1115Ser)
|
rs145674970
|
|
|
NM_022089.4(ATP13A2):c.3361C>T (p.Leu1121=)
|
|
|
|
NM_022089.4(ATP13A2):c.3399G>A (p.Met1133Ile)
|
|
|
|
NM_022089.4(ATP13A2):c.339C>T (p.Gly113=)
|
|
|
|
NM_022089.4(ATP13A2):c.3400C>T (p.Leu1134=)
|
|
|
|
NM_022089.4(ATP13A2):c.3405+19C>T
|
|
|
|
NM_022089.4(ATP13A2):c.3405+7C>T
|
rs758763354
|
|
|
NM_022089.4(ATP13A2):c.3406-13del
|
|
|
|
NM_022089.4(ATP13A2):c.3406-8del
|
|
|
|
NM_022089.4(ATP13A2):c.3408C>A (p.Ser1136Arg)
|
rs779310083
|
|
|
NM_022089.4(ATP13A2):c.3408C>T (p.Ser1136=)
|
|
|
|
NM_022089.4(ATP13A2):c.3411G>C (p.Val1137=)
|
rs2100629081
|
|
|
NM_022089.4(ATP13A2):c.3414A>G (p.Leu1138=)
|
|
|
|
NM_022089.4(ATP13A2):c.3418C>T (p.Gln1140Ter)
|
rs1057519289
|
|
|
NM_022089.4(ATP13A2):c.3422G>T (p.Cys1141Phe)
|
|
|
|
NM_022089.4(ATP13A2):c.3423C>T (p.Cys1141=)
|
|
|
|
NM_022089.4(ATP13A2):c.3426C>A (p.Leu1142=)
|
|
|
|
NM_022089.4(ATP13A2):c.3426C>G (p.Leu1142=)
|
|
|
|
NM_022089.4(ATP13A2):c.3435C>T (p.Cys1145=)
|
|
|
|
NM_022089.4(ATP13A2):c.3439C>A (p.Arg1147Ser)
|
|
|
|
NM_022089.4(ATP13A2):c.3448C>T (p.Arg1150Trp)
|
|
|
|
NM_022089.4(ATP13A2):c.3449G>A (p.Arg1150Gln)
|
|
|
|
NM_022089.4(ATP13A2):c.344G>T (p.Gly115Val)
|
|
|
|
NM_022089.4(ATP13A2):c.3457C>A (p.Arg1153=)
|
|
|
|
NM_022089.4(ATP13A2):c.3458G>C (p.Arg1153Pro)
|
rs772666861
|
|
|
NM_022089.4(ATP13A2):c.3462C>T (p.Ala1154=)
|
rs761171771
|
|
|
NM_022089.4(ATP13A2):c.347+12_347+13del
|
|
|
|
NM_022089.4(ATP13A2):c.347+17_347+18delinsAT
|
|
|
|
NM_022089.4(ATP13A2):c.3471G>T (p.Lys1157Asn)
|
rs2100626361
|
|
|
NM_022089.4(ATP13A2):c.3472C>A (p.Arg1158Ser)
|
rs201610681
|
|
|
NM_022089.4(ATP13A2):c.3476T>C (p.Phe1159Ser)
|
rs1553164387
|
|
|
NM_022089.4(ATP13A2):c.348-16T>C
|
rs2077491501
|
|
|
NM_022089.4(ATP13A2):c.348-17C>T
|
|
|
|
NM_022089.4(ATP13A2):c.348-9_351del
|
rs749798211
|
|
|
NM_022089.4(ATP13A2):c.348C>G (p.Ser116Arg)
|
rs2077491125
|
|
|
NM_022089.4(ATP13A2):c.3490C>A (p.Arg1164=)
|
rs373003359
|
|
|
NM_022089.4(ATP13A2):c.3490C>T (p.Arg1164Ter)
|
|
|
|
NM_022089.4(ATP13A2):c.349C>T (p.Leu117=)
|
|
|
|
NM_022089.4(ATP13A2):c.3501C>G (p.Ala1167=)
|
|
|
|
NM_022089.4(ATP13A2):c.3502G>A (p.Glu1168Lys)
|
|
|
|
NM_022089.4(ATP13A2):c.3503_3516dup (p.Pro1173fs)
|
rs779637529
|
|
|
NM_022089.4(ATP13A2):c.3525C>T (p.Pro1175=)
|
|
|
|
NM_022089.4(ATP13A2):c.3535del (p.Pro1178_Leu1179insTer)
|
rs1570752813
|
|
|
NM_022089.4(ATP13A2):c.3543G>A (p.Ter1181=)
|
|
|
|
NM_022089.4(ATP13A2):c.361C>T (p.Pro121Ser)
|
rs1421953227
|
|
|
NM_022089.4(ATP13A2):c.364C>T (p.Gln122Ter)
|
rs1057519292
|
|
|
NM_022089.4(ATP13A2):c.373G>C (p.Ala125Pro)
|
|
|
|
NM_022089.4(ATP13A2):c.374C>A (p.Ala125Glu)
|
|
|
|
NM_022089.4(ATP13A2):c.379del (p.Asp127fs)
|
|
|
|
NM_022089.4(ATP13A2):c.401T>C (p.Val134Ala)
|
rs2101102735
|
|
|
NM_022089.4(ATP13A2):c.408G>A (p.Ala136=)
|
|
|
|
NM_022089.4(ATP13A2):c.409del (p.Val137fs)
|
rs2077487643
|
|
|
NM_022089.4(ATP13A2):c.43G>A (p.Gly15Ser)
|
|
|
|
NM_022089.4(ATP13A2):c.44G>C (p.Gly15Ala)
|
rs1287774416
|
|
|
NM_022089.4(ATP13A2):c.469G>A (p.Val157Ile)
|
|
|
|
NM_022089.4(ATP13A2):c.477+12A>G
|
|
|
|
NM_022089.4(ATP13A2):c.477+15A>C
|
|
|
|
NM_022089.4(ATP13A2):c.477+18C>A
|
|
|
|
NM_022089.4(ATP13A2):c.478-13C>T
|
|
|
|
NM_022089.4(ATP13A2):c.478-15C>T
|
|
|
|
NM_022089.4(ATP13A2):c.478-7C>T
|
|
|
|
NM_022089.4(ATP13A2):c.482G>A (p.Arg161Gln)
|
|
|
|
NM_022089.4(ATP13A2):c.483G>A (p.Arg161=)
|
|
|
|
NM_022089.4(ATP13A2):c.484G>T (p.Val162Leu)
|
rs766714391
|
|
|
NM_022089.4(ATP13A2):c.498C>T (p.Tyr166=)
|
|
|
|
NM_022089.4(ATP13A2):c.4A>T (p.Ser2Cys)
|
rs2101432066
|
|
|
NM_022089.4(ATP13A2):c.508G>A (p.Gly170Ser)
|
rs762075619
|
|
|
NM_022089.4(ATP13A2):c.524G>T (p.Trp175Leu)
|
rs2077471676
|
|
|
NM_022089.4(ATP13A2):c.533_536dup (p.Gln179fs)
|
|
|
|
NM_022089.4(ATP13A2):c.557+1G>T
|
|
|
|
NM_022089.4(ATP13A2):c.557+7G>A
|
|
|
|
NM_022089.4(ATP13A2):c.558-11C>T
|
rs912183101
|
|
|
NM_022089.4(ATP13A2):c.558-15C>T
|
|
|
|
NM_022089.4(ATP13A2):c.558-1G>T
|
rs2077392348
|
|
|
NM_022089.4(ATP13A2):c.558-6C>T
|
|
|
|
NM_022089.4(ATP13A2):c.570T>C (p.His190=)
|
|
|
|
NM_022089.4(ATP13A2):c.572dup (p.Arg192fs)
|
|
|
|
NM_022089.4(ATP13A2):c.589G>A (p.Val197Ile)
|
|
|
|
NM_022089.4(ATP13A2):c.58A>C (p.Thr20Pro)
|
|
|
|
NM_022089.4(ATP13A2):c.598T>C (p.Ser200Pro)
|
|
|
|
NM_022089.4(ATP13A2):c.599C>G (p.Ser200Cys)
|
rs2101047661
|
|
|
NM_022089.4(ATP13A2):c.604del (p.His202fs)
|
|
|
|
NM_022089.4(ATP13A2):c.619C>T (p.Gln207Ter)
|
rs1483668823
|
|
|
NM_022089.4(ATP13A2):c.629T>A (p.Met210Lys)
|
|
|
|
NM_022089.4(ATP13A2):c.631G>T (p.Val211Leu)
|
|
|
|
NM_022089.4(ATP13A2):c.635+10G>C
|
|
|
|
NM_022089.4(ATP13A2):c.635+20G>A
|
|
|
|
NM_022089.4(ATP13A2):c.635+8C>T
|
|
|
|
NM_022089.4(ATP13A2):c.636-12C>A
|
|
|
|
NM_022089.4(ATP13A2):c.636-12C>T
|
|
|
|
NM_022089.4(ATP13A2):c.636-19G>A
|
rs1001030076
|
|
|
NM_022089.4(ATP13A2):c.642C>T (p.Ala214=)
|
rs2101043010
|
|
|
NM_022089.4(ATP13A2):c.657C>T (p.Asn219=)
|
|
|
|
NM_022089.4(ATP13A2):c.660G>A (p.Val220=)
|
|
|
|
NM_022089.4(ATP13A2):c.66G>A (p.Gly22=)
|
|
|
|
NM_022089.4(ATP13A2):c.688C>T (p.Gln230Ter)
|
rs2101042002
|
|
|
NM_022089.4(ATP13A2):c.702C>T (p.Asp234=)
|
|
|
|
NM_022089.4(ATP13A2):c.703G>A (p.Glu235Lys)
|
|
|
|
NM_022089.4(ATP13A2):c.705+11C>T
|
|
|
|
NM_022089.4(ATP13A2):c.706-13G>A
|
rs374468183
|
|
|
NM_022089.4(ATP13A2):c.706-13G>T
|
rs374468183
|
|
|
NM_022089.4(ATP13A2):c.706-16C>T
|
rs2101010699
|
|
|
NM_022089.4(ATP13A2):c.706-17T>A
|
|
|
|
NM_022089.4(ATP13A2):c.706-17T>C
|
|
|
|
NM_022089.4(ATP13A2):c.706-3C>T
|
rs753707797
|
|
|
NM_022089.4(ATP13A2):c.710T>C (p.Leu237Pro)
|
|
|
|
NM_022089.4(ATP13A2):c.716C>T (p.Pro239Leu)
|
|
|
|
NM_022089.4(ATP13A2):c.73A>G (p.Ile25Val)
|
|
|
|
NM_022089.4(ATP13A2):c.744C>T (p.Ile248=)
|
|
|
|
NM_022089.4(ATP13A2):c.747G>A (p.Ala249=)
|
|
|
|
NM_022089.4(ATP13A2):c.765C>T (p.His255=)
|
|
|
|
NM_022089.4(ATP13A2):c.774G>A (p.Trp258Ter)
|
|
|
|
NM_022089.4(ATP13A2):c.792C>T (p.Phe264=)
|
|
|
|
NM_022089.4(ATP13A2):c.811A>G (p.Ile271Val)
|
rs561097876
|
|
|
NM_022089.4(ATP13A2):c.813C>G (p.Ile271Met)
|
rs1557703924
|
|
|
NM_022089.4(ATP13A2):c.821C>T (p.Ser274Leu)
|
rs1213129765
|
|
|
NM_022089.4(ATP13A2):c.825G>C (p.Leu275=)
|
|
|
|
NM_022089.4(ATP13A2):c.835A>G (p.Arg279Gly)
|
|
|
|
NM_022089.4(ATP13A2):c.840+5G>A
|
|
|
|
NM_022089.4(ATP13A2):c.840G>T (p.Lys280Asn)
|
rs1326739914
|
|
|
NM_022089.4(ATP13A2):c.841-15G>T
|
|
|
|
NM_022089.4(ATP13A2):c.841-18C>T
|
|
|
|
NM_022089.4(ATP13A2):c.841-20C>T
|
|
|
|
NM_022089.4(ATP13A2):c.841C>G (p.Gln281Glu)
|
rs2077304764
|
|
|
NM_022089.4(ATP13A2):c.853C>T (p.Leu285=)
|
|
|
|
NM_022089.4(ATP13A2):c.864G>A (p.Met288Ile)
|
rs866353083
|
|
|
NM_022089.4(ATP13A2):c.888C>T (p.Cys296=)
|
|
|
|
NM_022089.4(ATP13A2):c.894C>T (p.Cys298=)
|
|
|
|
NM_022089.4(ATP13A2):c.896G>A (p.Arg299Gln)
|
|
|
|
NM_022089.4(ATP13A2):c.900A>C (p.Pro300=)
|
|
|
|
NM_022089.4(ATP13A2):c.904G>A (p.Gly302Arg)
|
rs948455777
|
|
|
NM_022089.4(ATP13A2):c.908-13T>G
|
|
|
|
NM_022089.4(ATP13A2):c.908-14C>T
|
rs536927284
|
|
|
NM_022089.4(ATP13A2):c.908-18T>A
|
|
|
|
NM_022089.4(ATP13A2):c.908-19C>T
|
|
|
|
NM_022089.4(ATP13A2):c.908-20C>T
|
rs2100997892
|
|
|
NM_022089.4(ATP13A2):c.908-8G>A
|
|
|
|
NM_022089.4(ATP13A2):c.919G>A (p.Val307Met)
|
|
|
|
NM_022089.4(ATP13A2):c.934C>T (p.Leu312=)
|
|
|
|
NM_022089.4(ATP13A2):c.940C>T (p.Pro314Ser)
|
rs752006308
|
|
|
NM_022089.4(ATP13A2):c.942C>G (p.Pro314=)
|
|
|
|
NM_022089.4(ATP13A2):c.942C>T (p.Pro314=)
|
rs551559306
|
|
|
NM_022089.4(ATP13A2):c.955G>C (p.Val319Leu)
|
rs1557702165
|
|
|
NM_022089.4(ATP13A2):c.965del (p.Gln322fs)
|
|
|
|
NM_022089.4(ATP13A2):c.966G>A (p.Gln322=)
|
|
|
|
NM_022089.4(ATP13A2):c.997C>T (p.Leu333=)
|
rs1570854476
|
|
|
NM_022455.5(NSD1):c.7976C>T (p.Ala2659Val)
|
rs1562312270
|
|
|
NM_022912.2(REEP1):c.106delG
|
|
|
|
NM_024306.4(FA2H):c.[117C>A];[150_159dupGCGGGCCAGG]
|
|
|
|
NM_024306.5(FA2H):c.*185G>T
|
rs1597535901
|
|
|
NM_024306.5(FA2H):c.*302G>A
|
rs532087618
|
|
|
NM_024306.5(FA2H):c.*404T>A
|
rs73614641
|
|
|
NM_024306.5(FA2H):c.*505G>T
|
rs930910226
|
|
|
NM_024306.5(FA2H):c.*59C>G
|
rs1961636870
|
|
|
NM_024306.5(FA2H):c.*637G>C
|
rs56033857
|
|
|
NM_024306.5(FA2H):c.*646T>G
|
rs886052288
|
|
|
NM_024306.5(FA2H):c.*885G>T
|
rs529743145
|
|
|
NM_024306.5(FA2H):c.1023T>A (p.Phe341Leu)
|
|
|
|
NM_024306.5(FA2H):c.102C>G (p.Tyr34Ter)
|
rs957683798
|
|
|
NM_024306.5(FA2H):c.103G>T (p.Asp35Tyr)
|
rs121918217
|
|
|
NM_024306.5(FA2H):c.1101C>G (p.Pro367=)
|
rs1961640707
|
|
|
NM_024306.5(FA2H):c.115_121del (p.Phe39fs)
|
rs2144672568
|
|
|
NM_024306.5(FA2H):c.131del (p.Pro44fs)
|
rs2144672539
|
|
|
NM_024306.5(FA2H):c.133G>A (p.Gly45Arg)
|
rs1247665387
|
|
|
NM_024306.5(FA2H):c.139G>A (p.Glu47Lys)
|
rs1057518032
|
|
|
NM_024306.5(FA2H):c.159_176del (p.Arg53_Ile58del)
|
rs759947457
|
|
|
NM_024306.5(FA2H):c.160_169del (p.Ala54fs)
|
rs794729214
|
|
|
NM_024306.5(FA2H):c.1A>G (p.Met1Val)
|
rs1962978958
|
|
|
NM_024306.5(FA2H):c.201C>G (p.His67Gln)
|
|
|
|
NM_024306.5(FA2H):c.205C>T (p.His69Tyr)
|
rs1057519235
|
|
|
NM_024306.5(FA2H):c.207C>G (p.His69Gln)
|
rs997310209
|
|
|
NM_024306.5(FA2H):c.227G>A (p.Trp76Ter)
|
rs1225330805
|
|
|
NM_024306.5(FA2H):c.266A>T (p.Gln89Leu)
|
rs1962971114
|
|
|
NM_024306.5(FA2H):c.271-106C>T
|
|
|
|
NM_024306.5(FA2H):c.340_363+8del
|
rs1597556143
|
|
|
NM_024306.5(FA2H):c.363+2T>C
|
|
|
|
NM_024306.5(FA2H):c.380G>T (p.Arg127Leu)
|
|
|
|
NM_024306.5(FA2H):c.385C>T (p.Pro129Ser)
|
rs886052291
|
|
|
NM_024306.5(FA2H):c.429G>A (p.Glu143=)
|
rs886052290
|
|
|
NM_024306.5(FA2H):c.443C>T (p.Pro148Leu)
|
rs372350326
|
|
|
NM_024306.5(FA2H):c.492_495del (p.Ser165fs)
|
|
|
|
NM_024306.5(FA2H):c.506+1G>C
|
rs753097023
|
|
|
NM_024306.5(FA2H):c.510_511del (p.Tyr170_Ser171delinsTer)
|
rs587776891
|
|
|
NM_024306.5(FA2H):c.517C>T (p.Pro173Ser)
|
rs863224870
|
|
|
NM_024306.5(FA2H):c.659T>A (p.Met220Lys)
|
|
|
|
NM_024306.5(FA2H):c.674T>C (p.Leu225Pro)
|
|
|
|
NM_024306.5(FA2H):c.688G>A (p.Glu230Lys)
|
|
|
|
NM_024306.5(FA2H):c.707T>C (p.Phe236Ser)
|
rs387907172
|
|
|
NM_024306.5(FA2H):c.716A>C (p.His239Pro)
|
|
|
|
NM_024306.5(FA2H):c.75C>G (p.Cys25Trp)
|
|
|
|
NM_024306.5(FA2H):c.782dup (p.His261fs)
|
rs2144606157
|
|
|
NM_024306.5(FA2H):c.785A>C (p.Lys262Thr)
|
|
|
|
NM_024306.5(FA2H):c.786+1G>A
|
rs1567633766
|
|
|
NM_024306.5(FA2H):c.786G>A (p.Lys262=)
|
|
|
|
NM_024306.5(FA2H):c.798C>G (p.Asp266Glu)
|
rs771402018
|
|
|
NM_024306.5(FA2H):c.817C>T (p.Pro273Ser)
|
|
|
|
NM_024306.5(FA2H):c.821C>A (p.Pro274His)
|
rs1263931890
|
|
|
NM_024306.5(FA2H):c.822del (p.Val275fs)
|
rs2144601954
|
|
|
NM_024306.5(FA2H):c.844G>C (p.Gly282Arg)
|
|
|
|
NM_024306.5(FA2H):c.910G>A (p.Gly304Ser)
|
rs1567632441
|
|
|
NM_024306.5(FA2H):c.910G>T (p.Gly304Cys)
|
|
|
|
NM_024306.5(FA2H):c.911dup (p.Leu305fs)
|
|
|
|
NM_024306.5(FA2H):c.934G>T (p.Asp312Tyr)
|
rs1274600570
|
|
|
NM_024306.5(FA2H):c.941_945del (p.Thr314fs)
|
rs1961700181
|
|
|
NM_024306.5(FA2H):c.94del (p.Arg32fs)
|
|
|
|
NM_024306.5(FA2H):c.956A>G (p.His319Arg)
|
rs2144601571
|
|
|
NM_024577.4(SH3TC2):c.1402_1403delinsTT (p.Ala468Phe)
|
rs863224780
|
|
|
NM_024989.4(PGAP1):c.1723T>C (p.Tyr575His)
|
rs1162811688
|
|
|
NM_024989.4(PGAP1):c.179G>A (p.Arg60His)
|
rs2125840414
|
|
|
NM_024989.4(PGAP1):c.492T>G (p.Ala164=)
|
rs1246230813
|
|
|
NM_024989.4(PGAP1):c.659C>G (p.Thr220Arg)
|
rs774987863
|
|
|
NM_024989.4(PGAP1):c.808-7_808-3del
|
rs570708925
|
|
|
NM_024989.4(PGAP1):c.84C>G (p.Val28=)
|
rs144502622
|
|
|
NM_024989.4(PGAP1):c.873G>A (p.Leu291=)
|
rs2125822923
|
|
|
NM_025137.3(SPG11):c.(2244+1_2245-1)_(2620+1_2621-1)del
|
|
|
|
NM_025137.3(SPG11):c.(?_-1)_3520+?del
|
|
|
|
NM_025137.3(SPG11):c.3145_3146insCA (p.Asp1049Alafs)
|
|
|
|
NM_025137.3(SPG11):c.5456_5457del (p.Glu1819Alafs)
|
rs312262764
|
|
|
NM_025137.3(SPG11):c.7151+4_7151+7dup
|
|
|
|
NM_025137.3(SPG11):c.[2316+5G>A];[6856C>T]
|
|
|
|
NM_025137.3:c.5898+5493_6509-491del
|
|
|
|
NM_025137.3:c.5987_5990dupCTCT
|
|
|
|
NM_025137.3:c.6754+4insTG
|
|
|
|
NM_025137.4(SPG11):c.1005T>C (p.Asp335=)
|
|
|
|
NM_025137.4(SPG11):c.1007+11T>C
|
|
|
|
NM_025137.4(SPG11):c.1007+19_1007+20insCAGAAACTTCCTTTTCTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCGGCGGCAAAGACTGAGACAGCTCCGCTGCCCGCTGAACTCCATCCTCCCGGCGGTCGGGCGGCGGCGGCTGC
|
rs2141107951
|
|
|
NM_025137.4(SPG11):c.1007+3A>G
|
|
|
|
NM_025137.4(SPG11):c.1007G>A (p.Arg336Lys)
|
rs892937993
|
|
|
NM_025137.4(SPG11):c.1008-11del
|
|
|
|
NM_025137.4(SPG11):c.1008-12C>T
|
|
|
|
NM_025137.4(SPG11):c.1008-18A>G
|
|
|
|
NM_025137.4(SPG11):c.1008-1G>A
|
rs2141107413
|
|
|
NM_025137.4(SPG11):c.1008-4C>G
|
|
|
|
NM_025137.4(SPG11):c.1008-5T>G
|
|
|
|
NM_025137.4(SPG11):c.1008-9del
|
|
|
|
NM_025137.4(SPG11):c.100C>T (p.Pro34Ser)
|
rs1060501172
|
|
|
NM_025137.4(SPG11):c.1013G>A (p.Trp338Ter)
|
|
|
|
NM_025137.4(SPG11):c.1021C>T (p.Gln341Ter)
|
|
|
|
NM_025137.4(SPG11):c.1024C>T (p.Leu342=)
|
|
|
|
NM_025137.4(SPG11):c.1028C>T (p.Ser343Leu)
|
rs2084792703
|
|
|
NM_025137.4(SPG11):c.1029A>G (p.Ser343=)
|
|
|
|
NM_025137.4(SPG11):c.102C>T (p.Pro34=)
|
|
|
|
NM_025137.4(SPG11):c.1032_1034del (p.Leu345del)
|
rs1555381612
|
|
|
NM_025137.4(SPG11):c.1033T>C (p.Leu345=)
|
|
|
|
NM_025137.4(SPG11):c.1049_1052del (p.Lys350fs)
|
|
|
|
NM_025137.4(SPG11):c.1050G>A (p.Lys350=)
|
rs2141107304
|
|
|
NM_025137.4(SPG11):c.1050_1052del (p.Lys350del)
|
|
|
|
NM_025137.4(SPG11):c.1055C>G (p.Ser352Cys)
|
rs2141107282
|
|
|
NM_025137.4(SPG11):c.105C>T (p.Ala35=)
|
rs1595945253
|
|
|
NM_025137.4(SPG11):c.1061T>G (p.Leu354Arg)
|
|
|
|
NM_025137.4(SPG11):c.106G>A (p.Glu36Lys)
|
rs1174925032
|
|
|
NM_025137.4(SPG11):c.1077T>C (p.Cys359=)
|
|
|
|
NM_025137.4(SPG11):c.107A>G (p.Glu36Gly)
|
rs1219891696
|
|
|
NM_025137.4(SPG11):c.1081C>T (p.Pro361Ser)
|
rs2084791008
|
|
|
NM_025137.4(SPG11):c.1082_1083del (p.Pro361fs)
|
|
|
|
NM_025137.4(SPG11):c.1083A>G (p.Pro361=)
|
|
|
|
NM_025137.4(SPG11):c.1089C>T (p.Phe363=)
|
|
|
|
NM_025137.4(SPG11):c.1090C>T (p.Gln364Ter)
|
rs2141107140
|
|
|
NM_025137.4(SPG11):c.1113A>C (p.Ser371=)
|
|
|
|
NM_025137.4(SPG11):c.111G>A (p.Ala37=)
|
rs2141138705
|
|
|
NM_025137.4(SPG11):c.111_150delinsTC (p.Met38fs)
|
rs2141138493
|
|
|
NM_025137.4(SPG11):c.1124G>A (p.Gly375Asp)
|
rs2141107015
|
|
|
NM_025137.4(SPG11):c.1124G>T (p.Gly375Val)
|
|
|
|
NM_025137.4(SPG11):c.1129C>G (p.His377Asp)
|
|
|
|
NM_025137.4(SPG11):c.1130del (p.His377fs)
|
rs2141106983
|
|
|
NM_025137.4(SPG11):c.1139G>A (p.Ser380Asn)
|
|
|
|
NM_025137.4(SPG11):c.1142T>G (p.Val381Gly)
|
rs2084787461
|
|
|
NM_025137.4(SPG11):c.1142_1143del (p.Val381fs)
|
rs2141106935
|
|
|
NM_025137.4(SPG11):c.1144C>T (p.Gln382Ter)
|
|
|
|
NM_025137.4(SPG11):c.1151G>A (p.Trp384Ter)
|
|
|
|
NM_025137.4(SPG11):c.1152G>A (p.Trp384Ter)
|
rs2084787275
|
|
|
NM_025137.4(SPG11):c.1152G>C (p.Trp384Cys)
|
|
|
|
NM_025137.4(SPG11):c.1155C>T (p.Ala385=)
|
|
|
|
NM_025137.4(SPG11):c.115G>A (p.Gly39Arg)
|
|
|
|
NM_025137.4(SPG11):c.1160T>C (p.Ile387Thr)
|
|
|
|
NM_025137.4(SPG11):c.1162C>G (p.Pro388Ala)
|
rs2141106847
|
|
|
NM_025137.4(SPG11):c.1170C>T (p.Asp390=)
|
|
|
|
NM_025137.4(SPG11):c.1175T>C (p.Met392Thr)
|
rs2084785700
|
|
|
NM_025137.4(SPG11):c.117G>A (p.Gly39=)
|
rs1253131194
|
|
|
NM_025137.4(SPG11):c.1184A>C (p.Gln395Pro)
|
rs758480359
|
|
|
NM_025137.4(SPG11):c.1184A>G (p.Gln395Arg)
|
rs758480359
|
|
|
NM_025137.4(SPG11):c.1185A>G (p.Gln395=)
|
|
|
|
NM_025137.4(SPG11):c.118C>T (p.Gln40Ter)
|
rs267607084
|
|
|
NM_025137.4(SPG11):c.1190A>T (p.Asn397Ile)
|
|
|
|
NM_025137.4(SPG11):c.1192G>A (p.Val398Ile)
|
|
|
|
NM_025137.4(SPG11):c.1194T>C (p.Val398=)
|
|
|
|
NM_025137.4(SPG11):c.1195C>T (p.Leu399=)
|
rs990876732
|
|
|
NM_025137.4(SPG11):c.1203del (p.Asp402fs)
|
rs312262722
|
|
|
NM_025137.4(SPG11):c.1222G>A (p.Asp408Asn)
|
rs1410107862
|
|
|
NM_025137.4(SPG11):c.1225C>T (p.Pro409Ser)
|
|
|
|
NM_025137.4(SPG11):c.1227A>G (p.Pro409=)
|
rs150909768
|
|
|
NM_025137.4(SPG11):c.122T>G (p.Leu41Arg)
|
rs1595945198
|
|
|
NM_025137.4(SPG11):c.1233A>G (p.Arg411=)
|
|
|
|
NM_025137.4(SPG11):c.1235C>G (p.Ser412Ter)
|
rs312262723
|
|
|
NM_025137.4(SPG11):c.1236A>T (p.Ser412=)
|
|
|
|
NM_025137.4(SPG11):c.123C>T (p.Leu41=)
|
rs776992288
|
|
|
NM_025137.4(SPG11):c.1251C>T (p.His417=)
|
|
|
|
NM_025137.4(SPG11):c.1254C>T (p.Ile418=)
|
rs2141106482
|
|
|
NM_025137.4(SPG11):c.1256G>A (p.Ser419Asn)
|
rs2084781481
|
|
|
NM_025137.4(SPG11):c.1261C>T (p.Gln421Ter)
|
|
|
|
NM_025137.4(SPG11):c.1275A>G (p.Ile425Met)
|
rs978081175
|
|
|
NM_025137.4(SPG11):c.1275del (p.Ile425fs)
|
|
|
|
NM_025137.4(SPG11):c.1275dup (p.Glu426fs)
|
rs2141106403
|
|
|
NM_025137.4(SPG11):c.1278G>A (p.Glu426=)
|
rs2084780424
|
|
|
NM_025137.4(SPG11):c.1282A>T (p.Lys428Ter)
|
rs312262724
|
|
|
NM_025137.4(SPG11):c.1288G>T (p.Val430Leu)
|
rs778937794
|
|
|
NM_025137.4(SPG11):c.1292C>T (p.Ser431Phe)
|
rs886051183
|
|
|
NM_025137.4(SPG11):c.1293_1294insTT (p.Val432fs)
|
rs2141106328
|
|
|
NM_025137.4(SPG11):c.1299A>G (p.Thr433=)
|
|
|
|
NM_025137.4(SPG11):c.12G>A (p.Glu4=)
|
|
|
|
NM_025137.4(SPG11):c.1302A>G (p.Gly434=)
|
|
|
|
NM_025137.4(SPG11):c.1308T>C (p.Thr436=)
|
|
|
|
NM_025137.4(SPG11):c.1311A>T (p.Ala437=)
|
|
|
|
NM_025137.4(SPG11):c.1312C>T (p.Leu438=)
|
|
|
|
NM_025137.4(SPG11):c.1313T>C (p.Leu438Pro)
|
|
|
|
NM_025137.4(SPG11):c.1314G>A (p.Leu438=)
|
|
|
|
NM_025137.4(SPG11):c.1321T>C (p.Trp441Arg)
|
rs1036385500
|
|
|
NM_025137.4(SPG11):c.1326dup (p.Val443fs)
|
|
|
|
NM_025137.4(SPG11):c.1329G>T (p.Val443=)
|
rs2141106230
|
|
|
NM_025137.4(SPG11):c.132G>A (p.Arg44=)
|
rs2141138590
|
|
|
NM_025137.4(SPG11):c.132G>C (p.Arg44=)
|
|
|
|
NM_025137.4(SPG11):c.1331A>G (p.Glu444Gly)
|
|
|
|
NM_025137.4(SPG11):c.1347_1348inv (p.Ile450Val)
|
|
|
|
NM_025137.4(SPG11):c.1352C>T (p.Thr451Ile)
|
rs1567190879
|
|
|
NM_025137.4(SPG11):c.1355T>C (p.Leu452Pro)
|
|
|
|
NM_025137.4(SPG11):c.1355T>G (p.Leu452Arg)
|
rs776275517
|
|
|
NM_025137.4(SPG11):c.1368G>A (p.Glu456=)
|
|
|
|
NM_025137.4(SPG11):c.136C>T (p.Gln46Ter)
|
|
|
|
NM_025137.4(SPG11):c.1371C>T (p.Thr457=)
|
rs2141106099
|
|
|
NM_025137.4(SPG11):c.1372C>T (p.Gln458Ter)
|
|
|
|
NM_025137.4(SPG11):c.1376G>T (p.Gly459Val)
|
rs1595927055
|
|
|
NM_025137.4(SPG11):c.1377C>T (p.Gly459=)
|
rs768183449
|
|
|
NM_025137.4(SPG11):c.1378A>G (p.Met460Val)
|
rs2141106039
|
|
|
NM_025137.4(SPG11):c.1380G>A (p.Met460Ile)
|
rs1296643524
|
|
|
NM_025137.4(SPG11):c.1393C>A (p.Leu465Ile)
|
rs2084776558
|
|
|
NM_025137.4(SPG11):c.1395T>C (p.Leu465=)
|
rs2141105955
|
|
|
NM_025137.4(SPG11):c.13G>A (p.Glu5Lys)
|
rs1247084532
|
|
|
NM_025137.4(SPG11):c.13del (p.Glu5fs)
|
|
|
|
NM_025137.4(SPG11):c.1400C>T (p.Thr467Ile)
|
|
|
|
NM_025137.4(SPG11):c.1407T>G (p.Cys469Trp)
|
rs2141105909
|
|
|
NM_025137.4(SPG11):c.1408A>G (p.Ile470Val)
|
rs2141105901
|
|
|
NM_025137.4(SPG11):c.1422T>A (p.Ser474Arg)
|
rs2084775958
|
|
|
NM_025137.4(SPG11):c.1422T>C (p.Ser474=)
|
|
|
|
NM_025137.4(SPG11):c.142dup (p.Arg48fs)
|
|
|
|
NM_025137.4(SPG11):c.1431C>T (p.Asp477=)
|
|
|
|
NM_025137.4(SPG11):c.1435C>A (p.Gln479Lys)
|
rs2141105806
|
|
|
NM_025137.4(SPG11):c.1435C>T (p.Gln479Ter)
|
rs2141105806
|
|
|
NM_025137.4(SPG11):c.1440G>T (p.Leu480=)
|
|
|
|
NM_025137.4(SPG11):c.1440del (p.Cys481fs)
|
|
|
|
NM_025137.4(SPG11):c.1446T>C (p.Phe482=)
|
|
|
|
NM_025137.4(SPG11):c.1456+11C>T
|
|
|
|
NM_025137.4(SPG11):c.1456+14G>C
|
|
|
|
NM_025137.4(SPG11):c.1456+16A>G
|
|
|
|
NM_025137.4(SPG11):c.1456+1G>T
|
|
|
|
NM_025137.4(SPG11):c.1456+4A>C
|
rs1311330812
|
|
|
NM_025137.4(SPG11):c.1456+9G>C
|
|
|
|
NM_025137.4(SPG11):c.1457-13A>G
|
|
|
|
NM_025137.4(SPG11):c.1457-15T>G
|
|
|
|
NM_025137.4(SPG11):c.1457-15_1457-14del
|
|
|
|
NM_025137.4(SPG11):c.1457-18C>G
|
|
|
|
NM_025137.4(SPG11):c.1457-19A>G
|
|
|
|
NM_025137.4(SPG11):c.1457-4A>C
|
|
|
|
NM_025137.4(SPG11):c.1457-7C>A
|
|
|
|
NM_025137.4(SPG11):c.1467C>G (p.Leu489=)
|
|
|
|
NM_025137.4(SPG11):c.1469C>G (p.Ser490Cys)
|
rs1384102732
|
|
|
NM_025137.4(SPG11):c.1471_1472del (p.Leu491fs)
|
rs312262727
|
|
|
NM_025137.4(SPG11):c.1473G>A (p.Leu491=)
|
rs1595923506
|
|
|
NM_025137.4(SPG11):c.1478T>A (p.Leu493Ter)
|
|
|
|
NM_025137.4(SPG11):c.1478_1482del (p.Leu493fs)
|
rs758015273
|
|
|
NM_025137.4(SPG11):c.1482del (p.Phe494fs)
|
|
|
|
NM_025137.4(SPG11):c.1494A>C (p.Gln498His)
|
rs760202776
|
|
|
NM_025137.4(SPG11):c.14A>G (p.Glu5Gly)
|
rs911119510
|
|
|
NM_025137.4(SPG11):c.1503T>G (p.Phe501Leu)
|
rs1060501175
|
|
|
NM_025137.4(SPG11):c.150G>A (p.Gln50=)
|
rs745498485
|
|
|
NM_025137.4(SPG11):c.1521C>T (p.Ile507=)
|
|
|
|
NM_025137.4(SPG11):c.1528A>C (p.Ser510Arg)
|
rs2084683038
|
|
|
NM_025137.4(SPG11):c.1529G>A (p.Ser510Asn)
|
rs1408459133
|
|
|
NM_025137.4(SPG11):c.1535G>A (p.Ser512Asn)
|
rs976041926
|
|
|
NM_025137.4(SPG11):c.1547C>T (p.Thr516Ile)
|
|
|
|
NM_025137.4(SPG11):c.1549_1550del (p.Cys518fs)
|
rs312262729
|
|
|
NM_025137.4(SPG11):c.154G>T (p.Glu52Ter)
|
|
|
|
NM_025137.4(SPG11):c.1551_1552del (p.Cys518fs)
|
rs312262730
|
|
|
NM_025137.4(SPG11):c.1558C>T (p.Leu520Phe)
|
rs557277528
|
|
|
NM_025137.4(SPG11):c.1565G>A (p.Gly522Asp)
|
|
|
|
NM_025137.4(SPG11):c.1570G>A (p.Gly524Arg)
|
rs1238362916
|
|
|
NM_025137.4(SPG11):c.1572A>G (p.Gly524=)
|
|
|
|
NM_025137.4(SPG11):c.1574G>C (p.Arg525Thr)
|
|
|
|
NM_025137.4(SPG11):c.1578C>T (p.Cys526=)
|
|
|
|
NM_025137.4(SPG11):c.1580C>G (p.Ser527Ter)
|
|
|
|
NM_025137.4(SPG11):c.1581A>T (p.Ser527=)
|
|
|
|
NM_025137.4(SPG11):c.1585C>T (p.Pro529Ser)
|
|
|
|
NM_025137.4(SPG11):c.1586C>T (p.Pro529Leu)
|
rs964345865
|
|
|
NM_025137.4(SPG11):c.1588A>G (p.Ile530Val)
|
rs746138256
|
|
|
NM_025137.4(SPG11):c.158C>T (p.Ala53Val)
|
rs1302243415
|
|
|
NM_025137.4(SPG11):c.1590A>C (p.Ile530=)
|
|
|
|
NM_025137.4(SPG11):c.1592A>G (p.His531Arg)
|
rs757589840
|
|
|
NM_025137.4(SPG11):c.1593dup (p.Ala532fs)
|
rs2141098660
|
|
|
NM_025137.4(SPG11):c.1596A>C (p.Ala532=)
|
|
|
|
NM_025137.4(SPG11):c.1599A>G (p.Leu533=)
|
rs2141098634
|
|
|
NM_025137.4(SPG11):c.1601A>G (p.Glu534Gly)
|
rs778355918
|
|
|
NM_025137.4(SPG11):c.1602+19C>G
|
|
|
|
NM_025137.4(SPG11):c.1602+1G>A
|
|
|
|
NM_025137.4(SPG11):c.1602+20A>C
|
|
|
|
NM_025137.4(SPG11):c.1602+7G>A
|
|
|
|
NM_025137.4(SPG11):c.1602+7_1602+8del
|
|
|
|
NM_025137.4(SPG11):c.1603-13C>T
|
|
|
|
NM_025137.4(SPG11):c.1603-1G>C
|
|
|
|
NM_025137.4(SPG11):c.1603-25_1690del
|
rs2141056788
|
|
|
NM_025137.4(SPG11):c.1603-5T>C
|
rs2084149728
|
|
|
NM_025137.4(SPG11):c.1603-8C>A
|
rs756665513
|
|
|
NM_025137.4(SPG11):c.1603-8C>T
|
|
|
|
NM_025137.4(SPG11):c.1605C>A (p.Ala535=)
|
|
|
|
NM_025137.4(SPG11):c.1607G>A (p.Gly536Glu)
|
rs200428589
|
|
|
NM_025137.4(SPG11):c.160C>T (p.Leu54=)
|
|
|
|
NM_025137.4(SPG11):c.1611A>G (p.Ile537Met)
|
|
|
|
NM_025137.4(SPG11):c.161T>G (p.Leu54Arg)
|
|
|
|
NM_025137.4(SPG11):c.1624C>T (p.Leu542=)
|
|
|
|
NM_025137.4(SPG11):c.162G>A (p.Leu54=)
|
|
|
|
NM_025137.4(SPG11):c.1636A>C (p.Asn546His)
|
rs1006002015
|
|
|
NM_025137.4(SPG11):c.1641C>T (p.Phe547=)
|
|
|
|
NM_025137.4(SPG11):c.1644T>C (p.Phe548=)
|
|
|
|
NM_025137.4(SPG11):c.1654_1655insGGAAAATCTTTTTTTTTTTTTTTTTTTTTNNNNNNNNGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGGA (p.Ser551_Lys552insArgLysIlePhePhePhePhePhePhePheXaaXaaXaaGlyGluGlyGluGlyGluGlyGluGlyGluGlyGluGlyGluGly)
|
rs2141056921
|
|
|
NM_025137.4(SPG11):c.1667T>C (p.Phe556Ser)
|
rs375399685
|
|
|
NM_025137.4(SPG11):c.1668_1669insSVAelement
|
|
|
|
NM_025137.4(SPG11):c.1668del (p.Phe556fs)
|
rs312262731
|
|
|
NM_025137.4(SPG11):c.1675T>A (p.Ser559Thr)
|
rs773680273
|
|
|
NM_025137.4(SPG11):c.1677C>T (p.Ser559=)
|
|
|
|
NM_025137.4(SPG11):c.1679C>G (p.Ser560Ter)
|
rs312262732
|
|
|
NM_025137.4(SPG11):c.167G>T (p.Ser56Ile)
|
rs1566838366
|
|
|
NM_025137.4(SPG11):c.1680A>G (p.Ser560=)
|
|
|
|
NM_025137.4(SPG11):c.1683A>G (p.Lys561=)
|
|
|
|
NM_025137.4(SPG11):c.168C>T (p.Ser56=)
|
|
|
|
NM_025137.4(SPG11):c.1696G>A (p.Asp566Asn)
|
rs2084145691
|
|
|
NM_025137.4(SPG11):c.1697_1710delinsTCATCCCAT (p.Asp566fs)
|
|
|
|
NM_025137.4(SPG11):c.1697_1711delinsTACTCCCA (p.Asp566fs)
|
rs312262733
|
|
|
NM_025137.4(SPG11):c.169C>T (p.Leu57=)
|
rs777780299
|
|
|
NM_025137.4(SPG11):c.1700A>C (p.Gln567Pro)
|
|
|
|
NM_025137.4(SPG11):c.1707T>C (p.Asp569=)
|
|
|
|
NM_025137.4(SPG11):c.1710C>G (p.His570Gln)
|
|
|
|
NM_025137.4(SPG11):c.1710C>T (p.His570=)
|
rs1040331008
|
|
|
NM_025137.4(SPG11):c.1716A>C (p.Ser572=)
|
|
|
|
NM_025137.4(SPG11):c.1719C>G (p.Ser573=)
|
|
|
|
NM_025137.4(SPG11):c.1719C>T (p.Ser573=)
|
|
|
|
NM_025137.4(SPG11):c.171G>A (p.Leu57=)
|
|
|
|
NM_025137.4(SPG11):c.1721A>G (p.His574Arg)
|
rs1555457572
|
|
|
NM_025137.4(SPG11):c.1725A>G (p.Leu575=)
|
rs1306125865
|
|
|
NM_025137.4(SPG11):c.1726T>G (p.Tyr576Asp)
|
rs185829887
|
|
|
NM_025137.4(SPG11):c.1727A>G (p.Tyr576Cys)
|
|
|
|
NM_025137.4(SPG11):c.1735+15G>A
|
|
|
|
NM_025137.4(SPG11):c.1735+18T>C
|
|
|
|
NM_025137.4(SPG11):c.1735+20C>T
|
rs1459986980
|
|
|
NM_025137.4(SPG11):c.1735+3_1735+6del
|
rs312262734
|
|
|
NM_025137.4(SPG11):c.1735+4A>G
|
rs2141056546
|
|
|
NM_025137.4(SPG11):c.1735+9A>G
|
|
|
|
NM_025137.4(SPG11):c.1736-11T>A
|
|
|
|
NM_025137.4(SPG11):c.1736-11T>C
|
|
|
|
NM_025137.4(SPG11):c.1736-7T>G
|
|
|
|
NM_025137.4(SPG11):c.173C>T (p.Thr58Met)
|
rs780151569
|
|
|
NM_025137.4(SPG11):c.1743A>C (p.Glu581Asp)
|
rs1276367363
|
|
|
NM_025137.4(SPG11):c.1755A>T (p.Pro585=)
|
rs2141045191
|
|
|
NM_025137.4(SPG11):c.1758A>G (p.Ala586=)
|
|
|
|
NM_025137.4(SPG11):c.1758A>T (p.Ala586=)
|
|
|
|
NM_025137.4(SPG11):c.1764T>C (p.Asp588=)
|
|
|
|
NM_025137.4(SPG11):c.17G>C (p.Gly6Ala)
|
rs1205261164
|
|
|
NM_025137.4(SPG11):c.1801C>G (p.Pro601Ala)
|
rs775799559
|
|
|
NM_025137.4(SPG11):c.1801C>T (p.Pro601Ser)
|
rs775799559
|
|
|
NM_025137.4(SPG11):c.1803C>T (p.Pro601=)
|
|
|
|
NM_025137.4(SPG11):c.1806A>G (p.Gln602=)
|
|
|
|
NM_025137.4(SPG11):c.180G>T (p.Ala60=)
|
|
|
|
NM_025137.4(SPG11):c.1813C>A (p.His605Asn)
|
|
|
|
NM_025137.4(SPG11):c.1818T>C (p.Phe606=)
|
|
|
|
NM_025137.4(SPG11):c.1818_1819del (p.Ser607fs)
|
rs1220982145
|
|
|
NM_025137.4(SPG11):c.1819T>G (p.Ser607Ala)
|
rs886051182
|
|
|
NM_025137.4(SPG11):c.1819_1822delinsAT (p.Ser607fs)
|
|
|
|
NM_025137.4(SPG11):c.1819del (p.Ser607fs)
|
rs1220982145
|
|
|
NM_025137.4(SPG11):c.1820C>G (p.Ser607Ter)
|
|
|
|
NM_025137.4(SPG11):c.1821A>C (p.Ser607=)
|
|
|
|
NM_025137.4(SPG11):c.1825C>T (p.Gln609Ter)
|
|
|
|
NM_025137.4(SPG11):c.1836T>C (p.Asn612=)
|
rs2083990565
|
|
|
NM_025137.4(SPG11):c.1837_1838insA (p.Leu613fs)
|
rs312262735
|
|
|
NM_025137.4(SPG11):c.1841del (p.Thr614fs)
|
|
|
|
NM_025137.4(SPG11):c.1842A>G (p.Thr614=)
|
|
|
|
NM_025137.4(SPG11):c.1845_1846del (p.Ser616fs)
|
rs312262736
|
|
|
NM_025137.4(SPG11):c.1845_1848del (p.Phe617fs)
|
|
|
|
NM_025137.4(SPG11):c.1854T>C (p.Leu618=)
|
|
|
|
NM_025137.4(SPG11):c.1857C>T (p.Asn619=)
|
rs2141044869
|
|
|
NM_025137.4(SPG11):c.1858A>G (p.Asn620Asp)
|
rs2141044861
|
|
|
NM_025137.4(SPG11):c.186C>T (p.Ser62=)
|
|
|
|
NM_025137.4(SPG11):c.1872G>C (p.Glu624Asp)
|
rs2141044804
|
|
|
NM_025137.4(SPG11):c.1874T>C (p.Leu625Pro)
|
rs1555456940
|
|
|
NM_025137.4(SPG11):c.1877del (p.Phe626fs)
|
rs2083989142
|
|
|
NM_025137.4(SPG11):c.1885A>T (p.Thr629Ser)
|
rs2083988991
|
|
|
NM_025137.4(SPG11):c.1886C>T (p.Thr629Ile)
|
|
|
|
NM_025137.4(SPG11):c.1891+10G>A
|
|
|
|
NM_025137.4(SPG11):c.1891+14C>G
|
|
|
|
NM_025137.4(SPG11):c.1891+15T>C
|
|
|
|
NM_025137.4(SPG11):c.1891+17G>A
|
|
|
|
NM_025137.4(SPG11):c.1891+18G>A
|
|
|
|
NM_025137.4(SPG11):c.1891+1G>T
|
rs532072204
|
|
|
NM_025137.4(SPG11):c.1891+4A>C
|
rs2141044751
|
|
|
NM_025137.4(SPG11):c.1891+9A>G
|
|
|
|
NM_025137.4(SPG11):c.1892-15T>G
|
rs1595898317
|
|
|
NM_025137.4(SPG11):c.1892-17A>G
|
|
|
|
NM_025137.4(SPG11):c.1892-4A>G
|
|
|
|
NM_025137.4(SPG11):c.1892-6C>T
|
|
|
|
NM_025137.4(SPG11):c.1892A>G (p.Glu631Gly)
|
|
|
|
NM_025137.4(SPG11):c.1893A>G (p.Glu631=)
|
|
|
|
NM_025137.4(SPG11):c.1896A>G (p.Leu632=)
|
rs1595898295
|
|
|
NM_025137.4(SPG11):c.18G>T (p.Gly6=)
|
|
|
|
NM_025137.4(SPG11):c.1902A>G (p.Glu634=)
|
|
|
|
NM_025137.4(SPG11):c.1908G>A (p.Leu636=)
|
|
|
|
NM_025137.4(SPG11):c.1909C>T (p.Gln637Ter)
|
|
|
|
NM_025137.4(SPG11):c.190C>G (p.Gln64Glu)
|
rs1566838280
|
|
|
NM_025137.4(SPG11):c.1910A>C (p.Gln637Pro)
|
rs2083975912
|
|
|
NM_025137.4(SPG11):c.1913A>G (p.Lys638Arg)
|
rs772835480
|
|
|
NM_025137.4(SPG11):c.1938C>T (p.Tyr646=)
|
|
|
|
NM_025137.4(SPG11):c.1939A>C (p.Ile647Leu)
|
rs375256495
|
|
|
NM_025137.4(SPG11):c.193G>A (p.Val65Met)
|
rs999651004
|
|
|
NM_025137.4(SPG11):c.1941T>A (p.Ile647=)
|
|
|
|
NM_025137.4(SPG11):c.194T>G (p.Val65Gly)
|
|
|
|
NM_025137.4(SPG11):c.1959C>T (p.Phe653=)
|
|
|
|
NM_025137.4(SPG11):c.1960A>G (p.Met654Val)
|
|
|
|
NM_025137.4(SPG11):c.1966_1967del (p.Lys656fs)
|
rs1303294230
|
|
|
NM_025137.4(SPG11):c.1970T>C (p.Phe657Ser)
|
rs2141043523
|
|
|
NM_025137.4(SPG11):c.1973C>T (p.Pro658Leu)
|
rs922368462
|
|
|
NM_025137.4(SPG11):c.1974T>C (p.Pro658=)
|
|
|
|
NM_025137.4(SPG11):c.1976G>C (p.Trp659Ser)
|
rs2141043511
|
|
|
NM_025137.4(SPG11):c.1978A>C (p.Lys660Gln)
|
rs2141043505
|
|
|
NM_025137.4(SPG11):c.1982T>C (p.Leu661Pro)
|
|
|
|
NM_025137.4(SPG11):c.1987_1988del (p.Asp663fs)
|
|
|
|
NM_025137.4(SPG11):c.1989T>A (p.Asp663Glu)
|
rs1321387321
|
|
|
NM_025137.4(SPG11):c.1992T>C (p.Ala664=)
|
|
|
|
NM_025137.4(SPG11):c.1999G>T (p.Glu667Ter)
|
|
|
|
NM_025137.4(SPG11):c.19G>A (p.Val7Ile)
|
rs774670657
|
|
|
NM_025137.4(SPG11):c.19G>T (p.Val7Phe)
|
rs774670657
|
|
|
NM_025137.4(SPG11):c.1A>T (p.Met1Leu)
|
rs2085195132
|
|
|
NM_025137.4(SPG11):c.2001A>G (p.Glu667=)
|
|
|
|
NM_025137.4(SPG11):c.2007T>C (p.Asp669=)
|
|
|
|
NM_025137.4(SPG11):c.200C>T (p.Ser67Phe)
|
rs985265616
|
|
|
NM_025137.4(SPG11):c.2013_2026dup (p.Lys676fs)
|
rs1595898078
|
|
|
NM_025137.4(SPG11):c.2014G>A (p.Glu672Lys)
|
rs2083972403
|
|
|
NM_025137.4(SPG11):c.2016A>G (p.Glu672=)
|
|
|
|
NM_025137.4(SPG11):c.201T>C (p.Ser67=)
|
|
|
|
NM_025137.4(SPG11):c.2022C>T (p.Val674=)
|
|
|
|
NM_025137.4(SPG11):c.2025C>T (p.Pro675=)
|
rs2141043340
|
|
|
NM_025137.4(SPG11):c.202_203dup (p.Leu68fs)
|
rs773773579
|
|
|
NM_025137.4(SPG11):c.2032A>G (p.Lys678Glu)
|
rs959317901
|
|
|
NM_025137.4(SPG11):c.2034G>T (p.Lys678Asn)
|
rs2083971691
|
|
|
NM_025137.4(SPG11):c.2038_2039dup (p.Ser680fs)
|
rs1595898055
|
|
|
NM_025137.4(SPG11):c.203T>C (p.Leu68Ser)
|
|
|
|
NM_025137.4(SPG11):c.2044A>G (p.Ile682Val)
|
|
|
|
NM_025137.4(SPG11):c.2048G>A (p.Trp683Ter)
|
rs1595898030
|
|
|
NM_025137.4(SPG11):c.2052_2055del (p.Lys684fs)
|
|
|
|
NM_025137.4(SPG11):c.2055A>G (p.Lys685=)
|
|
|
|
NM_025137.4(SPG11):c.2056C>T (p.Leu686Phe)
|
rs1160045630
|
|
|
NM_025137.4(SPG11):c.2057T>C (p.Leu686Pro)
|
|
|
|
NM_025137.4(SPG11):c.2058C>G (p.Leu686=)
|
|
|
|
NM_025137.4(SPG11):c.2061C>T (p.Ser687=)
|
|
|
|
NM_025137.4(SPG11):c.2065G>A (p.Glu689Lys)
|
rs2141043236
|
|
|
NM_025137.4(SPG11):c.2067+11A>C
|
|
|
|
NM_025137.4(SPG11):c.2067+11A>G
|
|
|
|
NM_025137.4(SPG11):c.2067+18_2067+20del
|
|
|
|
NM_025137.4(SPG11):c.2067+20A>C
|
|
|
|
NM_025137.4(SPG11):c.2067+5G>A
|
rs2141043201
|
|
|
NM_025137.4(SPG11):c.2067+7A>G
|
rs1360895808
|
|
|
NM_025137.4(SPG11):c.2067+8C>G
|
|
|
|
NM_025137.4(SPG11):c.2067+8C>T
|
rs374214706
|
|
|
NM_025137.4(SPG11):c.2068-12T>C
|
rs1409759425
|
|
|
NM_025137.4(SPG11):c.2068-16G>A
|
|
|
|
NM_025137.4(SPG11):c.2068-17C>G
|
|
|
|
NM_025137.4(SPG11):c.2068-17C>T
|
|
|
|
NM_025137.4(SPG11):c.2068-1G>A
|
|
|
|
NM_025137.4(SPG11):c.2068-3T>C
|
|
|
|
NM_025137.4(SPG11):c.2068-7T>A
|
|
|
|
NM_025137.4(SPG11):c.2068-7T>C
|
|
|
|
NM_025137.4(SPG11):c.2069A>G (p.Glu690Gly)
|
|
|
|
NM_025137.4(SPG11):c.2073T>G (p.Val691=)
|
|
|
|
NM_025137.4(SPG11):c.2079C>G (p.Ala693=)
|
|
|
|
NM_025137.4(SPG11):c.2081G>T (p.Ser694Ile)
|
|
|
|
NM_025137.4(SPG11):c.2086A>T (p.Ile696Phe)
|
|
|
|
NM_025137.4(SPG11):c.208C>A (p.Pro70Thr)
|
rs886051184
|
|
|
NM_025137.4(SPG11):c.20T>C (p.Val7Ala)
|
rs771083813
|
|
|
NM_025137.4(SPG11):c.2115G>A (p.Gln705=)
|
|
|
|
NM_025137.4(SPG11):c.2119T>G (p.Phe707Val)
|
rs2141038096
|
|
|
NM_025137.4(SPG11):c.2121C>A (p.Phe707Leu)
|
rs1239554492
|
|
|
NM_025137.4(SPG11):c.2121C>T (p.Phe707=)
|
|
|
|
NM_025137.4(SPG11):c.2123del (p.Phe708fs)
|
|
|
|
NM_025137.4(SPG11):c.2125A>C (p.Arg709=)
|
|
|
|
NM_025137.4(SPG11):c.2127G>A (p.Arg709=)
|
|
|
|
NM_025137.4(SPG11):c.2128A>G (p.Ile710Val)
|
rs779467011
|
|
|
NM_025137.4(SPG11):c.213C>T (p.Gly71=)
|
|
|
|
NM_025137.4(SPG11):c.213_241del (p.Ser72fs)
|
|
|
|
NM_025137.4(SPG11):c.2143G>T (p.Ala715Ser)
|
rs2083900209
|
|
|
NM_025137.4(SPG11):c.2146C>T (p.Gln716Ter)
|
rs312262737
|
|
|
NM_025137.4(SPG11):c.2147A>G (p.Gln716Arg)
|
rs2141037997
|
|
|
NM_025137.4(SPG11):c.214A>G (p.Ser72Gly)
|
rs2085179994
|
|
|
NM_025137.4(SPG11):c.2156A>G (p.Glu719Gly)
|
rs2141037979
|
|
|
NM_025137.4(SPG11):c.2157G>A (p.Glu719=)
|
|
|
|
NM_025137.4(SPG11):c.2163dup (p.Ile722fs)
|
rs312262738
|
|
|
NM_025137.4(SPG11):c.2170A>G (p.Ile724Val)
|
|
|
|
NM_025137.4(SPG11):c.2172A>T (p.Ile724=)
|
|
|
|
NM_025137.4(SPG11):c.2184G>C (p.Leu728Phe)
|
|
|
|
NM_025137.4(SPG11):c.218_221dup (p.Gly76fs)
|
rs2141138155
|
|
|
NM_025137.4(SPG11):c.2191G>A (p.Asp731Asn)
|
rs1327322138
|
|
|
NM_025137.4(SPG11):c.2193C>G (p.Asp731Glu)
|
|
|
|
NM_025137.4(SPG11):c.2196T>C (p.Asn732=)
|
rs2141037849
|
|
|
NM_025137.4(SPG11):c.2198T>G (p.Leu733Ter)
|
rs312262739
|
|
|
NM_025137.4(SPG11):c.2198del (p.Asn732_Leu733insTer)
|
|
|
|
NM_025137.4(SPG11):c.219G>A (p.Arg73=)
|
|
|
|
NM_025137.4(SPG11):c.21C>A (p.Val7=)
|
rs377135175
|
|
|
NM_025137.4(SPG11):c.21C>G (p.Val7=)
|
rs377135175
|
|
|
NM_025137.4(SPG11):c.21C>T (p.Val7=)
|
rs377135175
|
|
|
NM_025137.4(SPG11):c.2204A>G (p.Lys735Arg)
|
|
|
|
NM_025137.4(SPG11):c.220_221del (p.Gly74fs)
|
|
|
|
NM_025137.4(SPG11):c.2223C>T (p.Ala741=)
|
|
|
|
NM_025137.4(SPG11):c.2230del (p.Leu744fs)
|
|
|
|
NM_025137.4(SPG11):c.2233T>C (p.Leu745=)
|
|
|
|
NM_025137.4(SPG11):c.2238G>A (p.Lys746=)
|
|
|
|
NM_025137.4(SPG11):c.2244+10G>A
|
rs144314414
|
|
|
NM_025137.4(SPG11):c.2244+10G>T
|
rs144314414
|
|
|
NM_025137.4(SPG11):c.2244+5G>A
|
rs1330702477
|
|
|
NM_025137.4(SPG11):c.2244+8G>A
|
|
|
|
NM_025137.4(SPG11):c.2245-13A>C
|
|
|
|
NM_025137.4(SPG11):c.2245-13A>T
|
|
|
|
NM_025137.4(SPG11):c.2245-13_2245-12del
|
|
|
|
NM_025137.4(SPG11):c.2245-16del
|
|
|
|
NM_025137.4(SPG11):c.2246G>A (p.Gly749Glu)
|
|
|
|
NM_025137.4(SPG11):c.2247G>A (p.Gly749=)
|
|
|
|
NM_025137.4(SPG11):c.224G>C (p.Gly75Ala)
|
rs922561928
|
|
|
NM_025137.4(SPG11):c.224G>T (p.Gly75Val)
|
rs922561928
|
|
|
NM_025137.4(SPG11):c.2253T>C (p.Asp751=)
|
|
|
|
NM_025137.4(SPG11):c.2254G>T (p.Val752Leu)
|
rs1277935331
|
|
|
NM_025137.4(SPG11):c.225G>A (p.Gly75=)
|
|
|
|
NM_025137.4(SPG11):c.225G>C (p.Gly75=)
|
|
|
|
NM_025137.4(SPG11):c.2265del (p.Gln755fs)
|
rs1215058780
|
|
|
NM_025137.4(SPG11):c.2268G>A (p.Leu756=)
|
rs2083789720
|
|
|
NM_025137.4(SPG11):c.2278T>C (p.Cys760Arg)
|
|
|
|
NM_025137.4(SPG11):c.227G>A (p.Gly76Asp)
|
|
|
|
NM_025137.4(SPG11):c.2283C>T (p.Phe761=)
|
rs1595891619
|
|
|
NM_025137.4(SPG11):c.2289A>G (p.Thr763=)
|
rs1555455866
|
|
|
NM_025137.4(SPG11):c.228T>A (p.Gly76=)
|
|
|
|
NM_025137.4(SPG11):c.2295T>C (p.Asn765=)
|
rs2141030021
|
|
|
NM_025137.4(SPG11):c.2304A>G (p.Ile768Met)
|
rs1555455851
|
|
|
NM_025137.4(SPG11):c.2313T>C (p.Phe771=)
|
|
|
|
NM_025137.4(SPG11):c.2314T>G (p.Leu772Val)
|
|
|
|
NM_025137.4(SPG11):c.2316+10G>C
|
|
|
|
NM_025137.4(SPG11):c.2316+3A>C
|
rs2083787952
|
|
|
NM_025137.4(SPG11):c.2316+5G>A
|
rs879255274
|
|
|
NM_025137.4(SPG11):c.2316+7A>G
|
|
|
|
NM_025137.4(SPG11):c.2317-10T>C
|
|
|
|
NM_025137.4(SPG11):c.2317-12T>G
|
|
|
|
NM_025137.4(SPG11):c.2317-14A>T
|
|
|
|
NM_025137.4(SPG11):c.2317-17_2317-14del
|
|
|
|
NM_025137.4(SPG11):c.2317-8T>C
|
|
|
|
NM_025137.4(SPG11):c.2317-9T>C
|
|
|
|
NM_025137.4(SPG11):c.2317G>C (p.Val773Leu)
|
rs766696581
|
|
|
NM_025137.4(SPG11):c.2317G>T (p.Val773Phe)
|
rs766696581
|
|
|
NM_025137.4(SPG11):c.232T>G (p.Cys78Gly)
|
rs2141138095
|
|
|
NM_025137.4(SPG11):c.2331del (p.Glu778fs)
|
rs863224524
|
|
|
NM_025137.4(SPG11):c.2332G>A (p.Glu778Lys)
|
rs1231809811
|
|
|
NM_025137.4(SPG11):c.2336_2339del (p.Lys779fs)
|
rs1454768655
|
|
|
NM_025137.4(SPG11):c.2339del (p.Asn780fs)
|
|
|
|
NM_025137.4(SPG11):c.2339dup (p.Asn780fs)
|
rs1454768655
|
|
|
NM_025137.4(SPG11):c.233G>T (p.Cys78Phe)
|
|
|
|
NM_025137.4(SPG11):c.2343T>C (p.Tyr781=)
|
|
|
|
NM_025137.4(SPG11):c.2348C>T (p.Ser783Phe)
|
|
|
|
NM_025137.4(SPG11):c.2349T>C (p.Ser783=)
|
|
|
|
NM_025137.4(SPG11):c.234C>T (p.Cys78=)
|
|
|
|
NM_025137.4(SPG11):c.2356G>T (p.Glu786Ter)
|
|
|
|
NM_025137.4(SPG11):c.2358_2359del (p.Arg788fs)
|
rs312262741
|
|
|
NM_025137.4(SPG11):c.2362dup (p.Arg788fs)
|
rs2141029118
|
|
|
NM_025137.4(SPG11):c.2370A>C (p.Ile790=)
|
|
|
|
NM_025137.4(SPG11):c.2373C>T (p.Asp791=)
|
rs1294501977
|
|
|
NM_025137.4(SPG11):c.2377G>T (p.Val793Leu)
|
rs546601155
|
|
|
NM_025137.4(SPG11):c.2386G>C (p.Val796Leu)
|
|
|
|
NM_025137.4(SPG11):c.2387_2388dup (p.Glu797fs)
|
|
|
|
NM_025137.4(SPG11):c.2399del (p.Tyr800fs)
|
|
|
|
NM_025137.4(SPG11):c.23C>A (p.Ala8Glu)
|
rs200939573
|
|
|
NM_025137.4(SPG11):c.23C>T (p.Ala8Val)
|
rs200939573
|
|
|
NM_025137.4(SPG11):c.2400T>C (p.Tyr800=)
|
|
|
|
NM_025137.4(SPG11):c.240G>A (p.Leu80=)
|
|
|
|
NM_025137.4(SPG11):c.240G>C (p.Leu80=)
|
|
|
|
NM_025137.4(SPG11):c.240G>T (p.Leu80=)
|
|
|
|
NM_025137.4(SPG11):c.2414A>C (p.Gln805Pro)
|
rs2141028960
|
|
|
NM_025137.4(SPG11):c.2421T>C (p.Asn807=)
|
rs2083774098
|
|
|
NM_025137.4(SPG11):c.2423T>C (p.Met808Thr)
|
rs1020636809
|
|
|
NM_025137.4(SPG11):c.242A>G (p.Glu81Gly)
|
rs1555383956
|
|
|
NM_025137.4(SPG11):c.2436A>C (p.Ser812=)
|
rs2141028889
|
|
|
NM_025137.4(SPG11):c.2444+11dup
|
|
|
|
NM_025137.4(SPG11):c.2444+13G>A
|
|
|
|
NM_025137.4(SPG11):c.2444+15C>A
|
|
|
|
NM_025137.4(SPG11):c.2444+1G>A
|
rs312262743
|
|
|
NM_025137.4(SPG11):c.2444+1G>C
|
rs312262743
|
|
|
NM_025137.4(SPG11):c.2444+3A>T
|
rs1287398920
|
|
|
NM_025137.4(SPG11):c.2444+7T>C
|
|
|
|
NM_025137.4(SPG11):c.2444+8C>T
|
|
|
|
NM_025137.4(SPG11):c.2444+9A>G
|
rs2083772568
|
|
|
NM_025137.4(SPG11):c.2444G>A (p.Arg815Lys)
|
|
|
|
NM_025137.4(SPG11):c.2444G>T (p.Arg815Met)
|
rs312262742
|
|
|
NM_025137.4(SPG11):c.2445-14A>G
|
|
|
|
NM_025137.4(SPG11):c.2445-16A>G
|
|
|
|
NM_025137.4(SPG11):c.2445-18T>C
|
|
|
|
NM_025137.4(SPG11):c.2445-20del
|
rs374899647
|
|
|
NM_025137.4(SPG11):c.2445-32dup
|
rs374899647
|
|
|
NM_025137.4(SPG11):c.2445-7T>C
|
|
|
|
NM_025137.4(SPG11):c.2445-8G>C
|
rs777673463
|
|
|
NM_025137.4(SPG11):c.244G>A (p.Gly82Ser)
|
rs774004835
|
|
|
NM_025137.4(SPG11):c.2460A>G (p.Glu820=)
|
|
|
|
NM_025137.4(SPG11):c.2463A>G (p.Gln821=)
|
|
|
|
NM_025137.4(SPG11):c.246C>A (p.Gly82=)
|
|
|
|
NM_025137.4(SPG11):c.246C>T (p.Gly82=)
|
|
|
|
NM_025137.4(SPG11):c.2471dup (p.Lys825fs)
|
|
|
|
NM_025137.4(SPG11):c.2472_2473insT (p.Lys825Ter)
|
rs312262744
|
|
|
NM_025137.4(SPG11):c.2478C>T (p.His826=)
|
|
|
|
NM_025137.4(SPG11):c.2483C>T (p.Ser828Phe)
|
rs2141028113
|
|
|
NM_025137.4(SPG11):c.2486T>G (p.Val829Gly)
|
rs1555455561
|
|
|
NM_025137.4(SPG11):c.248C>G (p.Pro83Arg)
|
rs1465468992
|
|
|
NM_025137.4(SPG11):c.2490G>A (p.Leu830=)
|
rs2141028079
|
|
|
NM_025137.4(SPG11):c.2491G>A (p.Asp831Asn)
|
|
|
|
NM_025137.4(SPG11):c.2494T>G (p.Ser832Ala)
|
rs2083762073
|
|
|
NM_025137.4(SPG11):c.2496A>G (p.Ser832=)
|
|
|
|
NM_025137.4(SPG11):c.249C>G (p.Pro83=)
|
|
|
|
NM_025137.4(SPG11):c.24G>T (p.Ala8=)
|
|
|
|
NM_025137.4(SPG11):c.2505A>G (p.Lys835=)
|
|
|
|
NM_025137.4(SPG11):c.2508T>C (p.Tyr836=)
|
rs770468335
|
|
|
NM_025137.4(SPG11):c.2509G>T (p.Asp837Tyr)
|
|
|
|
NM_025137.4(SPG11):c.2517del (p.Asp840fs)
|
rs2141027980
|
|
|
NM_025137.4(SPG11):c.251T>G (p.Phe84Cys)
|
rs2085177672
|
|
|
NM_025137.4(SPG11):c.2523del (p.Glu841fs)
|
|
|
|
NM_025137.4(SPG11):c.2534A>G (p.Gln845Arg)
|
rs1313372102
|
|
|
NM_025137.4(SPG11):c.2535G>A (p.Gln845=)
|
rs2141027925
|
|
|
NM_025137.4(SPG11):c.2536dup (p.Asp846fs)
|
rs2141027919
|
|
|
NM_025137.4(SPG11):c.2546T>C (p.Ile849Thr)
|
rs779087194
|
|
|
NM_025137.4(SPG11):c.2565G>A (p.Leu855=)
|
|
|
|
NM_025137.4(SPG11):c.2565G>C (p.Leu855=)
|
|
|
|
NM_025137.4(SPG11):c.2568G>A (p.Trp856Ter)
|
|
|
|
NM_025137.4(SPG11):c.257+12G>A
|
|
|
|
NM_025137.4(SPG11):c.257+14G>A
|
|
|
|
NM_025137.4(SPG11):c.257+15A>G
|
rs538988623
|
|
|
NM_025137.4(SPG11):c.257+17A>G
|
rs201878138
|
|
|
NM_025137.4(SPG11):c.257+17A>T
|
rs201878138
|
|
|
NM_025137.4(SPG11):c.257+18G>A
|
|
|
|
NM_025137.4(SPG11):c.257+18G>T
|
|
|
|
NM_025137.4(SPG11):c.257+1G>A
|
|
|
|
NM_025137.4(SPG11):c.257+8C>A
|
rs769518000
|
|
|
NM_025137.4(SPG11):c.257+8C>T
|
|
|
|
NM_025137.4(SPG11):c.257+9T>G
|
|
|
|
NM_025137.4(SPG11):c.2570G>A (p.Trp857Ter)
|
rs2141027825
|
|
|
NM_025137.4(SPG11):c.258-12T>C
|
|
|
|
NM_025137.4(SPG11):c.258-16A>C
|
|
|
|
NM_025137.4(SPG11):c.258-22_258-19del
|
|
|
|
NM_025137.4(SPG11):c.258-2A>G
|
rs781665076
|
|
|
NM_025137.4(SPG11):c.258-6del
|
rs373234269
|
|
|
NM_025137.4(SPG11):c.258-8T>G
|
|
|
|
NM_025137.4(SPG11):c.2581A>G (p.Thr861Ala)
|
rs2083759221
|
|
|
NM_025137.4(SPG11):c.2583A>C (p.Thr861=)
|
rs2141027797
|
|
|
NM_025137.4(SPG11):c.2586A>C (p.Gln862His)
|
rs533427143
|
|
|
NM_025137.4(SPG11):c.258C>T (p.His86=)
|
|
|
|
NM_025137.4(SPG11):c.2592C>T (p.Ser864=)
|
|
|
|
NM_025137.4(SPG11):c.2601C>A (p.Leu867=)
|
|
|
|
NM_025137.4(SPG11):c.2604C>T (p.Pro868=)
|
|
|
|
NM_025137.4(SPG11):c.2606G>C (p.Arg869Thr)
|
|
|
|
NM_025137.4(SPG11):c.2608A>G (p.Ile870Val)
|
rs312262745
|
|
|
NM_025137.4(SPG11):c.2621-13T>C
|
rs1595889099
|
|
|
NM_025137.4(SPG11):c.2621-15T>C
|
rs188590034
|
|
|
NM_025137.4(SPG11):c.2621-15dup
|
rs577083743
|
|
|
NM_025137.4(SPG11):c.2621-16G>T
|
rs905019416
|
|
|
NM_025137.4(SPG11):c.2621-18G>A
|
|
|
|
NM_025137.4(SPG11):c.2621-1G>A
|
|
|
|
NM_025137.4(SPG11):c.2621-6A>G
|
|
|
|
NM_025137.4(SPG11):c.2621-7C>T
|
|
|
|
NM_025137.4(SPG11):c.2621-7dup
|
|
|
|
NM_025137.4(SPG11):c.2621-8del
|
rs577083743
|
|
|
NM_025137.4(SPG11):c.2621-9_2621-8dup
|
|
|
|
NM_025137.4(SPG11):c.2621A>C (p.Glu874Ala)
|
rs2083709845
|
|
|
NM_025137.4(SPG11):c.2625C>G (p.Tyr875Ter)
|
|
|
|
NM_025137.4(SPG11):c.2626A>G (p.Lys876Glu)
|
|
|
|
NM_025137.4(SPG11):c.2627A>G (p.Lys876Arg)
|
|
|
|
NM_025137.4(SPG11):c.2630C>T (p.Ser877Leu)
|
|
|
|
NM_025137.4(SPG11):c.2633A>T (p.Tyr878Phe)
|
rs748331814
|
|
|
NM_025137.4(SPG11):c.2637C>T (p.Ser879=)
|
|
|
|
NM_025137.4(SPG11):c.2638C>T (p.Pro880Ser)
|
|
|
|
NM_025137.4(SPG11):c.2640T>C (p.Pro880=)
|
|
|
|
NM_025137.4(SPG11):c.264A>G (p.Leu88=)
|
rs779845183
|
|
|
NM_025137.4(SPG11):c.2655A>G (p.Arg885=)
|
|
|
|
NM_025137.4(SPG11):c.2659C>T (p.Leu887Phe)
|
|
|
|
NM_025137.4(SPG11):c.2661C>T (p.Leu887=)
|
rs2141024751
|
|
|
NM_025137.4(SPG11):c.2664A>G (p.Thr888=)
|
|
|
|
NM_025137.4(SPG11):c.2669G>T (p.Arg890Leu)
|
rs376143651
|
|
|
NM_025137.4(SPG11):c.2670C>G (p.Arg890=)
|
|
|
|
NM_025137.4(SPG11):c.2670C>T (p.Arg890=)
|
|
|
|
NM_025137.4(SPG11):c.2672A>G (p.His891Arg)
|
rs1215566981
|
|
|
NM_025137.4(SPG11):c.2676T>C (p.Asp892=)
|
|
|
|
NM_025137.4(SPG11):c.2678G>A (p.Trp893Ter)
|
rs1555455266
|
|
|
NM_025137.4(SPG11):c.267G>A (p.Trp89Ter)
|
rs312262709
|
|
|
NM_025137.4(SPG11):c.2686A>G (p.Ile896Val)
|
|
|
|
NM_025137.4(SPG11):c.2686A>T (p.Ile896Phe)
|
rs753479999
|
|
|
NM_025137.4(SPG11):c.2689A>G (p.Ile897Val)
|
rs2083707431
|
|
|
NM_025137.4(SPG11):c.268G>T (p.Glu90Ter)
|
rs312262710
|
|
|
NM_025137.4(SPG11):c.2694A>G (p.Leu898=)
|
|
|
|
NM_025137.4(SPG11):c.2697G>A (p.Trp899Ter)
|
rs312262746
|
|
|
NM_025137.4(SPG11):c.2698A>T (p.Ile900Phe)
|
rs1239083839
|
|
|
NM_025137.4(SPG11):c.2703A>G (p.Gly901=)
|
|
|
|
NM_025137.4(SPG11):c.2704G>T (p.Glu902Ter)
|
|
|
|
NM_025137.4(SPG11):c.2710C>G (p.Gln904Glu)
|
rs760517153
|
|
|
NM_025137.4(SPG11):c.2714C>A (p.Thr905Asn)
|
|
|
|
NM_025137.4(SPG11):c.2716del (p.Gln906fs)
|
rs312262747
|
|
|
NM_025137.4(SPG11):c.2717A>C (p.Gln906Pro)
|
|
|
|
NM_025137.4(SPG11):c.2718G>A (p.Gln906=)
|
|
|
|
NM_025137.4(SPG11):c.271G>T (p.Asp91Tyr)
|
|
|
|
NM_025137.4(SPG11):c.2732C>T (p.Ser911Leu)
|
rs2141024543
|
|
|
NM_025137.4(SPG11):c.2737C>T (p.Gln913Ter)
|
rs1555455246
|
|
|
NM_025137.4(SPG11):c.2737CAG[1] (p.Gln914del)
|
rs763096648
|
|
|
NM_025137.4(SPG11):c.2751G>T (p.Trp917Cys)
|
rs2083705120
|
|
|
NM_025137.4(SPG11):c.275C>T (p.Ser92Phe)
|
rs749964630
|
|
|
NM_025137.4(SPG11):c.276_285del (p.Arg93fs)
|
rs747220413
|
|
|
NM_025137.4(SPG11):c.277C>A (p.Arg93Ser)
|
|
|
|
NM_025137.4(SPG11):c.277C>T (p.Arg93Cys)
|
rs764731214
|
|
|
NM_025137.4(SPG11):c.2781G>A (p.Gln927=)
|
rs373088911
|
|
|
NM_025137.4(SPG11):c.2781G>T (p.Gln927His)
|
rs373088911
|
|
|
NM_025137.4(SPG11):c.278G>A (p.Arg93His)
|
rs149254262
|
|
|
NM_025137.4(SPG11):c.278G>T (p.Arg93Leu)
|
|
|
|
NM_025137.4(SPG11):c.278del (p.Arg93fs)
|
rs2141130246
|
|
|
NM_025137.4(SPG11):c.2790del (p.Cys931fs)
|
rs1085307097
|
|
|
NM_025137.4(SPG11):c.27T>C (p.Ser9=)
|
|
|
|
NM_025137.4(SPG11):c.2802del (p.Asn933_Tyr934insTer)
|
|
|
|
NM_025137.4(SPG11):c.2808G>A (p.Arg936=)
|
|
|
|
NM_025137.4(SPG11):c.2808G>T (p.Arg936Ser)
|
rs2083702773
|
|
|
NM_025137.4(SPG11):c.2820A>G (p.Leu940=)
|
|
|
|
NM_025137.4(SPG11):c.2829G>A (p.Leu943=)
|
rs1555455226
|
|
|
NM_025137.4(SPG11):c.282C>G (p.Asn94Lys)
|
|
|
|
NM_025137.4(SPG11):c.2833A>G (p.Arg945Gly)
|
rs312262748
|
|
|
NM_025137.4(SPG11):c.2834+15G>A
|
|
|
|
NM_025137.4(SPG11):c.2834+15G>C
|
rs2141024220
|
|
|
NM_025137.4(SPG11):c.2834+15G>T
|
|
|
|
NM_025137.4(SPG11):c.2834+1G>A
|
|
|
|
NM_025137.4(SPG11):c.2834+20A>C
|
|
|
|
NM_025137.4(SPG11):c.2834+5_2834+7del
|
rs759910630
|
|
|
NM_025137.4(SPG11):c.2835-12A>G
|
|
|
|
NM_025137.4(SPG11):c.2842dup (p.Val948fs)
|
rs312262750
|
|
|
NM_025137.4(SPG11):c.2844T>A (p.Val948=)
|
rs2141015218
|
|
|
NM_025137.4(SPG11):c.2847T>C (p.Phe949=)
|
|
|
|
NM_025137.4(SPG11):c.2849del (p.Leu950fs)
|
rs1470463921
|
|
|
NM_025137.4(SPG11):c.2849dup (p.Leu950fs)
|
rs1470463921
|
|
|
NM_025137.4(SPG11):c.2851G>A (p.Ala951Thr)
|
rs1431880035
|
|
|
NM_025137.4(SPG11):c.2856T>C (p.Ser952=)
|
|
|
|
NM_025137.4(SPG11):c.2857G>A (p.Glu953Lys)
|
rs372906057
|
|
|
NM_025137.4(SPG11):c.2857G>C (p.Glu953Gln)
|
rs372906057
|
|
|
NM_025137.4(SPG11):c.2857G>T (p.Glu953Ter)
|
rs372906057
|
|
|
NM_025137.4(SPG11):c.2860C>T (p.Leu954=)
|
|
|
|
NM_025137.4(SPG11):c.2863G>T (p.Glu955Ter)
|
|
|
|
NM_025137.4(SPG11):c.2871T>C (p.Phe957=)
|
rs760820546
|
|
|
NM_025137.4(SPG11):c.2874A>G (p.Glu958=)
|
|
|
|
NM_025137.4(SPG11):c.2877C>A (p.Cys959Ter)
|
rs786204176
|
|
|
NM_025137.4(SPG11):c.2885T>C (p.Leu962Pro)
|
rs759969829
|
|
|
NM_025137.4(SPG11):c.2892G>A (p.Leu964=)
|
|
|
|
NM_025137.4(SPG11):c.2896C>A (p.Arg966Ser)
|
rs771538317
|
|
|
NM_025137.4(SPG11):c.2901T>C (p.Ile967=)
|
|
|
|
NM_025137.4(SPG11):c.2906G>A (p.Gly969Asp)
|
rs2083570700
|
|
|
NM_025137.4(SPG11):c.2910A>C (p.Val970=)
|
|
|
|
NM_025137.4(SPG11):c.2912T>G (p.Ile971Arg)
|
|
|
|
NM_025137.4(SPG11):c.2912_2914delinsGAT (p.Ile971_Gln972delinsArgTer)
|
rs1555454508
|
|
|
NM_025137.4(SPG11):c.2914C>T (p.Gln972Ter)
|
|
|
|
NM_025137.4(SPG11):c.2915A>G (p.Gln972Arg)
|
rs201282600
|
|
|
NM_025137.4(SPG11):c.2916G>A (p.Gln972=)
|
|
|
|
NM_025137.4(SPG11):c.2922C>T (p.Thr974=)
|
|
|
|
NM_025137.4(SPG11):c.2924T>C (p.Leu975Pro)
|
rs758207568
|
|
|
NM_025137.4(SPG11):c.2925C>T (p.Leu975=)
|
|
|
|
NM_025137.4(SPG11):c.2928T>A (p.Pro976=)
|
rs2141014954
|
|
|
NM_025137.4(SPG11):c.2933A>C (p.Gln978Pro)
|
rs2083569563
|
|
|
NM_025137.4(SPG11):c.2934A>G (p.Gln978=)
|
rs1595883979
|
|
|
NM_025137.4(SPG11):c.2938T>A (p.Tyr980Asn)
|
rs1595883966
|
|
|
NM_025137.4(SPG11):c.2946C>T (p.Thr982=)
|
|
|
|
NM_025137.4(SPG11):c.2950G>T (p.Glu984Ter)
|
|
|
|
NM_025137.4(SPG11):c.297T>C (p.Thr99=)
|
|
|
|
NM_025137.4(SPG11):c.2983dup (p.Tyr995fs)
|
|
|
|
NM_025137.4(SPG11):c.2984A>G (p.Tyr995Cys)
|
|
|
|
NM_025137.4(SPG11):c.2984_2985del (p.Tyr995fs)
|
|
|
|
NM_025137.4(SPG11):c.2985T>G (p.Tyr995Ter)
|
|
|
|
NM_025137.4(SPG11):c.2989T>C (p.Leu997=)
|
|
|
|
NM_025137.4(SPG11):c.2990T>A (p.Leu997Ter)
|
rs1060501176
|
|
|
NM_025137.4(SPG11):c.2994G>A (p.Glu998=)
|
|
|
|
NM_025137.4(SPG11):c.29C>G (p.Ala10Gly)
|
rs750165094
|
|
|
NM_025137.4(SPG11):c.29C>T (p.Ala10Val)
|
rs750165094
|
|
|
NM_025137.4(SPG11):c.3000del (p.Leu1001fs)
|
rs1555454488
|
|
|
NM_025137.4(SPG11):c.3005A>C (p.Gln1002Pro)
|
rs2141014746
|
|
|
NM_025137.4(SPG11):c.3013_3016del (p.Leu1005fs)
|
|
|
|
NM_025137.4(SPG11):c.3016dup (p.Tyr1006fs)
|
|
|
|
NM_025137.4(SPG11):c.3017A>G (p.Tyr1006Cys)
|
rs1374505304
|
|
|
NM_025137.4(SPG11):c.3019dup (p.Val1007fs)
|
|
|
|
NM_025137.4(SPG11):c.3021C>G (p.Val1007=)
|
rs1595883840
|
|
|
NM_025137.4(SPG11):c.3023A>C (p.Tyr1008Ser)
|
rs776158206
|
|
|
NM_025137.4(SPG11):c.3032G>A (p.Cys1011Tyr)
|
|
|
|
NM_025137.4(SPG11):c.3034del (p.Tyr1012fs)
|
rs2141014662
|
|
|
NM_025137.4(SPG11):c.3036C>A (p.Tyr1012Ter)
|
rs2083566245
|
|
|
NM_025137.4(SPG11):c.3036C>G (p.Tyr1012Ter)
|
|
|
|
NM_025137.4(SPG11):c.3037_3038+8del
|
|
|
|
NM_025137.4(SPG11):c.3038+12G>A
|
|
|
|
NM_025137.4(SPG11):c.3038+12G>C
|
|
|
|
NM_025137.4(SPG11):c.3038+18A>G
|
|
|
|
NM_025137.4(SPG11):c.3038+8C>G
|
|
|
|
NM_025137.4(SPG11):c.3039-10T>G
|
rs1567163243
|
|
|
NM_025137.4(SPG11):c.3039-13G>T
|
|
|
|
NM_025137.4(SPG11):c.3039-17G>C
|
|
|
|
NM_025137.4(SPG11):c.3039-1G>A
|
|
|
|
NM_025137.4(SPG11):c.3039-1G>T
|
|
|
|
NM_025137.4(SPG11):c.3039-20T>G
|
|
|
|
NM_025137.4(SPG11):c.3039-5T>C
|
rs763224175
|
|
|
NM_025137.4(SPG11):c.3039-5_3039-4delinsAT
|
rs2141011211
|
|
|
NM_025137.4(SPG11):c.3039-6A>G
|
|
|
|
NM_025137.4(SPG11):c.3039-6A>T
|
|
|
|
NM_025137.4(SPG11):c.3039-7T>C
|
|
|
|
NM_025137.4(SPG11):c.3039-8A>C
|
|
|
|
NM_025137.4(SPG11):c.3042dup (p.Ser1015Ter)
|
|
|
|
NM_025137.4(SPG11):c.3057T>A (p.Cys1019Ter)
|
|
|
|
NM_025137.4(SPG11):c.3059C>G (p.Pro1020Arg)
|
rs2141011170
|
|
|
NM_025137.4(SPG11):c.3067G>T (p.Glu1023Ter)
|
|
|
|
NM_025137.4(SPG11):c.3070A>T (p.Lys1024Ter)
|
rs1157530441
|
|
|
NM_025137.4(SPG11):c.3074A>T (p.Lys1025Ile)
|
rs1567163203
|
|
|
NM_025137.4(SPG11):c.3074_3077del (p.Lys1025fs)
|
rs746971952
|
|
|
NM_025137.4(SPG11):c.3075A>T (p.Lys1025Asn)
|
|
|
|
NM_025137.4(SPG11):c.3075dup (p.Glu1026fs)
|
rs312262752
|
|
|
NM_025137.4(SPG11):c.3077A>T (p.Glu1026Val)
|
rs1567163181
|
|
|
NM_025137.4(SPG11):c.3077_3078del (p.Glu1026fs)
|
|
|
|
NM_025137.4(SPG11):c.3080T>G (p.Leu1027Ter)
|
|
|
|
NM_025137.4(SPG11):c.3084T>C (p.His1028=)
|
|
|
|
NM_025137.4(SPG11):c.3092A>G (p.His1031Arg)
|
rs2141011065
|
|
|
NM_025137.4(SPG11):c.3094C>T (p.Pro1032Ser)
|
|
|
|
NM_025137.4(SPG11):c.3095C>G (p.Pro1032Arg)
|
rs141106870
|
|
|
NM_025137.4(SPG11):c.3098G>T (p.Trp1033Leu)
|
rs1595881991
|
|
|
NM_025137.4(SPG11):c.30T>C (p.Ala10=)
|
rs765190254
|
|
|
NM_025137.4(SPG11):c.3110dup (p.Leu1037fs)
|
rs2141011028
|
|
|
NM_025137.4(SPG11):c.3114_3145+45del
|
rs2083509815
|
|
|
NM_025137.4(SPG11):c.3122G>C (p.Arg1041Pro)
|
|
|
|
NM_025137.4(SPG11):c.3124C>G (p.Gln1042Glu)
|
|
|
|
NM_025137.4(SPG11):c.3132C>G (p.Ala1044=)
|
rs770666794
|
|
|
NM_025137.4(SPG11):c.3132C>T (p.Ala1044=)
|
|
|
|
NM_025137.4(SPG11):c.3138C>T (p.Asn1046=)
|
rs2083512162
|
|
|
NM_025137.4(SPG11):c.3140T>G (p.Leu1047Ter)
|
rs2141010951
|
|
|
NM_025137.4(SPG11):c.3143_3144dup (p.Asp1049fs)
|
|
|
|
NM_025137.4(SPG11):c.3145+11A>G
|
|
|
|
NM_025137.4(SPG11):c.3145+13T>C
|
|
|
|
NM_025137.4(SPG11):c.3145+15T>C
|
|
|
|
NM_025137.4(SPG11):c.3145+16A>G
|
|
|
|
NM_025137.4(SPG11):c.3145+19A>G
|
|
|
|
NM_025137.4(SPG11):c.3145+1G>T
|
rs956922949
|
|
|
NM_025137.4(SPG11):c.3145+3A>G
|
rs755042849
|
|
|
NM_025137.4(SPG11):c.3146-13T>C
|
|
|
|
NM_025137.4(SPG11):c.3146-16G>A
|
|
|
|
NM_025137.4(SPG11):c.3146-17T>C
|
rs770702010
|
|
|
NM_025137.4(SPG11):c.3146-19A>G
|
|
|
|
NM_025137.4(SPG11):c.3146-1G>C
|
|
|
|
NM_025137.4(SPG11):c.3146-20C>T
|
|
|
|
NM_025137.4(SPG11):c.3146-4C>T
|
rs747053234
|
|
|
NM_025137.4(SPG11):c.3146-5T>A
|
|
|
|
NM_025137.4(SPG11):c.3146A>T (p.Asp1049Val)
|
rs2083444672
|
|
|
NM_025137.4(SPG11):c.3148C>T (p.Pro1050Ser)
|
rs2083444609
|
|
|
NM_025137.4(SPG11):c.3151A>G (p.Lys1051Glu)
|
rs1595879028
|
|
|
NM_025137.4(SPG11):c.3153A>G (p.Lys1051=)
|
|
|
|
NM_025137.4(SPG11):c.3154C>T (p.Leu1052=)
|
|
|
|
NM_025137.4(SPG11):c.315C>T (p.Leu105=)
|
|
|
|
NM_025137.4(SPG11):c.315del (p.Ala106fs)
|
rs1595940106
|
|
|
NM_025137.4(SPG11):c.3164del (p.Gln1055fs)
|
|
|
|
NM_025137.4(SPG11):c.3168T>C (p.Ala1056=)
|
rs2083444214
|
|
|
NM_025137.4(SPG11):c.3175_3176delinsTG (p.Ala1059Ter)
|
|
|
|
NM_025137.4(SPG11):c.3184C>G (p.Gln1062Glu)
|
|
|
|
NM_025137.4(SPG11):c.3184C>T (p.Gln1062Ter)
|
rs370252831
|
|
|
NM_025137.4(SPG11):c.3185A>C (p.Gln1062Pro)
|
rs146520557
|
|
|
NM_025137.4(SPG11):c.3186G>C (p.Gln1062His)
|
rs11070430
|
|
|
NM_025137.4(SPG11):c.3192del (p.Ile1065fs)
|
rs1595878941
|
|
|
NM_025137.4(SPG11):c.3198C>T (p.Pro1066=)
|
rs1595878904
|
|
|
NM_025137.4(SPG11):c.3203A>G (p.Asn1068Ser)
|
rs1439670067
|
|
|
NM_025137.4(SPG11):c.3207G>A (p.Gln1069=)
|
|
|
|
NM_025137.4(SPG11):c.3208G>A (p.Ala1070Thr)
|
|
|
|
NM_025137.4(SPG11):c.3213_3214insCCCT (p.Val1072fs)
|
rs767798272
|
|
|
NM_025137.4(SPG11):c.3231G>A (p.Leu1077=)
|
|
|
|
NM_025137.4(SPG11):c.3237A>G (p.Gly1079=)
|
|
|
|
NM_025137.4(SPG11):c.3237A>T (p.Gly1079=)
|
|
|
|
NM_025137.4(SPG11):c.3244C>G (p.Leu1082Val)
|
rs1183035882
|
|
|
NM_025137.4(SPG11):c.3247C>A (p.Leu1083Met)
|
rs1595878796
|
|
|
NM_025137.4(SPG11):c.324T>A (p.Gly108=)
|
rs1555383447
|
|
|
NM_025137.4(SPG11):c.3250G>A (p.Ala1084Thr)
|
|
|
|
NM_025137.4(SPG11):c.3261T>G (p.Thr1087=)
|
|
|
|
NM_025137.4(SPG11):c.3262A>G (p.Thr1088Ala)
|
rs1221018693
|
|
|
NM_025137.4(SPG11):c.3266T>G (p.Met1089Arg)
|
rs1291491649
|
|
|
NM_025137.4(SPG11):c.3269A>G (p.Tyr1090Cys)
|
rs2083441234
|
|
|
NM_025137.4(SPG11):c.3282T>C (p.Gly1094=)
|
|
|
|
NM_025137.4(SPG11):c.3282T>G (p.Gly1094=)
|
|
|
|
NM_025137.4(SPG11):c.3285C>T (p.Val1095=)
|
rs2141004913
|
|
|
NM_025137.4(SPG11):c.3289C>T (p.Gln1097Ter)
|
|
|
|
NM_025137.4(SPG11):c.3291+13C>G
|
|
|
|
NM_025137.4(SPG11):c.3291+14T>C
|
|
|
|
NM_025137.4(SPG11):c.3291+16T>C
|
|
|
|
NM_025137.4(SPG11):c.3291+16T>G
|
|
|
|
NM_025137.4(SPG11):c.3291+1G>T
|
rs312262753
|
|
|
NM_025137.4(SPG11):c.3291+20A>G
|
|
|
|
NM_025137.4(SPG11):c.3291+8T>C
|
|
|
|
NM_025137.4(SPG11):c.3292-10_3292-9insG
|
|
|
|
NM_025137.4(SPG11):c.3292-12T>C
|
|
|
|
NM_025137.4(SPG11):c.3292-13T>C
|
|
|
|
NM_025137.4(SPG11):c.3292-16C>G
|
|
|
|
NM_025137.4(SPG11):c.3292-16C>T
|
|
|
|
NM_025137.4(SPG11):c.3292-1G>C
|
|
|
|
NM_025137.4(SPG11):c.3292-4T>G
|
|
|
|
NM_025137.4(SPG11):c.3292-5C>T
|
rs2140999966
|
|
|
NM_025137.4(SPG11):c.3292-6A>C
|
|
|
|
NM_025137.4(SPG11):c.3292-7del
|
|
|
|
NM_025137.4(SPG11):c.3292-7dup
|
|
|
|
NM_025137.4(SPG11):c.3292-8_3292-7dup
|
rs753333408
|
|
|
NM_025137.4(SPG11):c.3292G>T (p.Val1098Phe)
|
|
|
|
NM_025137.4(SPG11):c.3295G>A (p.Val1099Ile)
|
|
|
|
NM_025137.4(SPG11):c.3311dup (p.Asn1104fs)
|
rs753257469
|
|
|
NM_025137.4(SPG11):c.3315A>G (p.Glu1105=)
|
|
|
|
NM_025137.4(SPG11):c.331T>A (p.Tyr111Asn)
|
rs2085074518
|
|
|
NM_025137.4(SPG11):c.3320_3321del (p.Cys1107fs)
|
rs1366914385
|
|
|
NM_025137.4(SPG11):c.3321_3324del (p.Asn1106_Cys1107insTer)
|
rs768131119
|
|
|
NM_025137.4(SPG11):c.3322T>G (p.Leu1108Val)
|
|
|
|
NM_025137.4(SPG11):c.332A>T (p.Tyr111Phe)
|
rs2141130065
|
|
|
NM_025137.4(SPG11):c.3335A>G (p.Asp1112Gly)
|
rs950287511
|
|
|
NM_025137.4(SPG11):c.3338C>A (p.Pro1113His)
|
rs2083380998
|
|
|
NM_025137.4(SPG11):c.3340C>T (p.Gln1114Ter)
|
|
|
|
NM_025137.4(SPG11):c.3348G>A (p.Leu1116=)
|
|
|
|
NM_025137.4(SPG11):c.334G>T (p.Glu112Ter)
|
rs1595940058
|
|
|
NM_025137.4(SPG11):c.3357A>G (p.Ala1119=)
|
|
|
|
NM_025137.4(SPG11):c.3366T>C (p.Pro1122=)
|
rs774332666
|
|
|
NM_025137.4(SPG11):c.3369C>T (p.Tyr1123=)
|
|
|
|
NM_025137.4(SPG11):c.336A>G (p.Glu112=)
|
|
|
|
NM_025137.4(SPG11):c.3372del (p.Lys1125fs)
|
|
|
|
NM_025137.4(SPG11):c.3374A>G (p.Lys1125Arg)
|
rs1421555064
|
|
|
NM_025137.4(SPG11):c.337C>T (p.Leu113=)
|
rs878855128
|
|
|
NM_025137.4(SPG11):c.3388C>G (p.Leu1130Val)
|
|
|
|
NM_025137.4(SPG11):c.3390C>G (p.Leu1130=)
|
|
|
|
NM_025137.4(SPG11):c.3393C>T (p.Phe1131=)
|
|
|
|
NM_025137.4(SPG11):c.3399G>T (p.Gln1133His)
|
rs1051475016
|
|
|
NM_025137.4(SPG11):c.339G>C (p.Leu113=)
|
rs373238538
|
|
|
NM_025137.4(SPG11):c.339G>T (p.Leu113=)
|
rs373238538
|
|
|
NM_025137.4(SPG11):c.33T>A (p.Ala11=)
|
|
|
|
NM_025137.4(SPG11):c.3406C>T (p.Pro1136Ser)
|
|
|
|
NM_025137.4(SPG11):c.3408T>A (p.Pro1136=)
|
|
|
|
NM_025137.4(SPG11):c.3410dup (p.Pro1137_Ser1138insTer)
|
rs1470512931
|
|
|
NM_025137.4(SPG11):c.3417C>T (p.Val1139=)
|
|
|
|
NM_025137.4(SPG11):c.341T>C (p.Leu114Pro)
|
|
|
|
NM_025137.4(SPG11):c.3423A>G (p.Pro1141=)
|
|
|
|
NM_025137.4(SPG11):c.3433A>G (p.Thr1145Ala)
|
rs755490045
|
|
|
NM_025137.4(SPG11):c.3438C>T (p.Ile1146=)
|
rs1484117125
|
|
|
NM_025137.4(SPG11):c.3440A>G (p.Tyr1147Cys)
|
|
|
|
NM_025137.4(SPG11):c.3447T>C (p.Leu1149=)
|
|
|
|
NM_025137.4(SPG11):c.3447del (p.Ile1150fs)
|
rs2140999428
|
|
|
NM_025137.4(SPG11):c.3453+10T>C
|
rs2083377248
|
|
|
NM_025137.4(SPG11):c.3453+10T>G
|
|
|
|
NM_025137.4(SPG11):c.3453+17G>T
|
|
|
|
NM_025137.4(SPG11):c.3453+19C>G
|
|
|
|
NM_025137.4(SPG11):c.3453+19C>T
|
|
|
|
NM_025137.4(SPG11):c.3453+1G>T
|
|
|
|
NM_025137.4(SPG11):c.3453+6_3453+7insCT
|
|
|
|
NM_025137.4(SPG11):c.3453+8A>T
|
|
|
|
NM_025137.4(SPG11):c.3454-13T>C
|
|
|
|
NM_025137.4(SPG11):c.3454-16T>G
|
|
|
|
NM_025137.4(SPG11):c.3454-20T>C
|
|
|
|
NM_025137.4(SPG11):c.3454-28A>G
|
|
|
|
NM_025137.4(SPG11):c.3454-6T>C
|
rs2140994495
|
|
|
NM_025137.4(SPG11):c.3457T>G (p.Leu1153Val)
|
rs2140994487
|
|
|
NM_025137.4(SPG11):c.3458T>C (p.Leu1153Ser)
|
rs2083311354
|
|
|
NM_025137.4(SPG11):c.3459A>C (p.Leu1153Phe)
|
|
|
|
NM_025137.4(SPG11):c.3461C>T (p.Ser1154Leu)
|
rs2140994460
|
|
|
NM_025137.4(SPG11):c.3462A>G (p.Ser1154=)
|
|
|
|
NM_025137.4(SPG11):c.3465C>T (p.Pro1155=)
|
|
|
|
NM_025137.4(SPG11):c.3471T>C (p.Asp1157=)
|
|
|
|
NM_025137.4(SPG11):c.3472C>G (p.Pro1158Ala)
|
rs750011115
|
|
|
NM_025137.4(SPG11):c.3474T>G (p.Pro1158=)
|
|
|
|
NM_025137.4(SPG11):c.3476G>A (p.Ser1159Asn)
|
rs2083310810
|
|
|
NM_025137.4(SPG11):c.347A>G (p.Tyr116Cys)
|
rs1186964654
|
|
|
NM_025137.4(SPG11):c.3480A>G (p.Arg1160=)
|
|
|
|
NM_025137.4(SPG11):c.3488G>T (p.Gly1163Val)
|
rs376821867
|
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NM_025137.4(SPG11):c.348T>C (p.Tyr116=)
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NM_025137.4(SPG11):c.3492G>T (p.Trp1164Cys)
|
rs2083310287
|
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|
NM_025137.4(SPG11):c.349G>T (p.Glu117Ter)
|
rs312262711
|
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NM_025137.4(SPG11):c.34T>C (p.Ser12Pro)
|
rs753871631
|
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NM_025137.4(SPG11):c.3502A>G (p.Asn1168Asp)
|
rs763749443
|
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NM_025137.4(SPG11):c.3504C>A (p.Asn1168Lys)
|
rs199712393
|
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NM_025137.4(SPG11):c.3506C>T (p.Thr1169Ile)
|
rs2083309611
|
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NM_025137.4(SPG11):c.3508C>A (p.Leu1170Ile)
|
rs534771304
|
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|
NM_025137.4(SPG11):c.3514dup (p.Ile1172fs)
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NM_025137.4(SPG11):c.3516A>G (p.Ile1172Met)
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NM_025137.4(SPG11):c.3520+10C>G
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NM_025137.4(SPG11):c.3520+11A>G
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NM_025137.4(SPG11):c.3520+13G>T
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NM_025137.4(SPG11):c.3520+14G>A
|
rs1198359789
|
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NM_025137.4(SPG11):c.3520+17A>G
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NM_025137.4(SPG11):c.3520+1G>A
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NM_025137.4(SPG11):c.3520+20T>A
|
rs376883385
|
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NM_025137.4(SPG11):c.3521-2A>G
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NM_025137.4(SPG11):c.3521-4C>G
|
rs2140982563
|
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NM_025137.4(SPG11):c.3521-6C>T
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NM_025137.4(SPG11):c.3521-7C>G
|
rs2083161976
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NM_025137.4(SPG11):c.3521-7C>T
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NM_025137.4(SPG11):c.3521-9T>A
|
rs1395728939
|
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NM_025137.4(SPG11):c.3522T>G (p.Asp1174Glu)
|
rs777278944
|
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NM_025137.4(SPG11):c.3525A>C (p.Ala1175=)
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NM_025137.4(SPG11):c.3527G>A (p.Trp1176Ter)
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NM_025137.4(SPG11):c.3538C>G (p.Pro1180Ala)
|
rs747910594
|
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NM_025137.4(SPG11):c.3542A>G (p.His1181Arg)
|
rs912012668
|
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NM_025137.4(SPG11):c.3548C>G (p.Ser1183Cys)
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|
NM_025137.4(SPG11):c.354T>C (p.Phe118=)
|
rs1435339925
|
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NM_025137.4(SPG11):c.3552C>T (p.Ser1184=)
|
rs367780059
|
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NM_025137.4(SPG11):c.3558C>T (p.Asp1186=)
|
rs201902382
|
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NM_025137.4(SPG11):c.3571T>A (p.Tyr1191Asn)
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|
NM_025137.4(SPG11):c.3573dup (p.Ala1192fs)
|
rs2140982382
|
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NM_025137.4(SPG11):c.3592A>G (p.Asn1198Asp)
|
rs2083159214
|
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NM_025137.4(SPG11):c.3594T>C (p.Asn1198=)
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NM_025137.4(SPG11):c.3595T>G (p.Phe1199Val)
|
rs774716138
|
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NM_025137.4(SPG11):c.359T>G (p.Leu120Trp)
|
rs764858234
|
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NM_025137.4(SPG11):c.359del (p.Asn119_Leu120insTer)
|
rs312262712
|
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NM_025137.4(SPG11):c.3602_3603del (p.Tyr1201fs)
|
rs312262754
|
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NM_025137.4(SPG11):c.3609A>T (p.Leu1203Phe)
|
rs1390671994
|
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NM_025137.4(SPG11):c.3614A>G (p.Asn1205Ser)
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NM_025137.4(SPG11):c.3614A>T (p.Asn1205Ile)
|
rs1451774392
|
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NM_025137.4(SPG11):c.3619C>T (p.Arg1207Trp)
|
rs199986067
|
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NM_025137.4(SPG11):c.3624A>G (p.Pro1208=)
|
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NM_025137.4(SPG11):c.3624A>T (p.Pro1208=)
|
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NM_025137.4(SPG11):c.362A>G (p.Lys121Arg)
|
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|
NM_025137.4(SPG11):c.3633A>G (p.Ala1211=)
|
rs1464516168
|
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NM_025137.4(SPG11):c.3642T>A (p.Thr1214=)
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NM_025137.4(SPG11):c.3646C>G (p.Leu1216Val)
|
rs12902253
|
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NM_025137.4(SPG11):c.3651C>A (p.Val1217=)
|
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NM_025137.4(SPG11):c.3651C>T (p.Val1217=)
|
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NM_025137.4(SPG11):c.3657A>G (p.Glu1219=)
|
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NM_025137.4(SPG11):c.3662T>C (p.Ile1221Thr)
|
rs756274932
|
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NM_025137.4(SPG11):c.3662_3665del (p.Ile1221fs)
|
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|
NM_025137.4(SPG11):c.3670A>C (p.Lys1224Gln)
|
rs2140982065
|
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NM_025137.4(SPG11):c.3672G>A (p.Lys1224=)
|
rs752901786
|
|
|
NM_025137.4(SPG11):c.3677C>G (p.Pro1226Arg)
|
rs1478064859
|
|
|
NM_025137.4(SPG11):c.3677C>T (p.Pro1226Leu)
|
rs1478064859
|
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|
NM_025137.4(SPG11):c.3678C>G (p.Pro1226=)
|
rs2140982045
|
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NM_025137.4(SPG11):c.367G>A (p.Gly123Arg)
|
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NM_025137.4(SPG11):c.3681G>A (p.Lys1227=)
|
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NM_025137.4(SPG11):c.3686+14A>T
|
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NM_025137.4(SPG11):c.3686+16A>G
|
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NM_025137.4(SPG11):c.3686+17T>C
|
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NM_025137.4(SPG11):c.3686+20T>A
|
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NM_025137.4(SPG11):c.3686+2_3686+3del
|
rs1268481547
|
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NM_025137.4(SPG11):c.3686+4A>G
|
rs1595865855
|
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NM_025137.4(SPG11):c.3687-13C>G
|
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NM_025137.4(SPG11):c.3687-13_3687-9del
|
rs766788316
|
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NM_025137.4(SPG11):c.3687-14C>A
|
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NM_025137.4(SPG11):c.3687-14C>T
|
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NM_025137.4(SPG11):c.3687-1_3687delinsTA
|
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NM_025137.4(SPG11):c.3687-2A>G
|
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NM_025137.4(SPG11):c.3687-7T>G
|
rs1264219476
|
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NM_025137.4(SPG11):c.3687-8T>C
|
rs2083112248
|
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NM_025137.4(SPG11):c.3687-9C>G
|
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NM_025137.4(SPG11):c.3691C>T (p.Gln1231Ter)
|
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NM_025137.4(SPG11):c.3696A>G (p.Gln1232=)
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NM_025137.4(SPG11):c.3702C>A (p.Gly1234=)
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NM_025137.4(SPG11):c.3711dup (p.Tyr1238fs)
|
rs750663981
|
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NM_025137.4(SPG11):c.3719_3720del (p.Ile1240fs)
|
rs312262756
|
|
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NM_025137.4(SPG11):c.3725T>C (p.Leu1242Pro)
|
rs2083110455
|
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NM_025137.4(SPG11):c.3729C>T (p.Ser1243=)
|
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NM_025137.4(SPG11):c.3729del (p.Ser1244fs)
|
rs2140978326
|
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NM_025137.4(SPG11):c.3736_3746del (p.His1246fs)
|
rs2140978275
|
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|
NM_025137.4(SPG11):c.373T>C (p.Cys125Arg)
|
rs2141129973
|
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NM_025137.4(SPG11):c.3741dup (p.Pro1248fs)
|
rs312262757
|
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NM_025137.4(SPG11):c.3742C>A (p.Pro1248Thr)
|
rs2140978285
|
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NM_025137.4(SPG11):c.3748A>G (p.Ile1250Val)
|
rs2140978260
|
|
|
NM_025137.4(SPG11):c.3759A>G (p.Ala1253=)
|
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|
NM_025137.4(SPG11):c.3774A>G (p.Leu1258=)
|
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NM_025137.4(SPG11):c.3778T>G (p.Leu1260Val)
|
rs776154524
|
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|
NM_025137.4(SPG11):c.3783del (p.Gly1262fs)
|
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|
NM_025137.4(SPG11):c.3784G>T (p.Gly1262Cys)
|
rs2083108639
|
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NM_025137.4(SPG11):c.3785G>T (p.Gly1262Val)
|
rs1057518874
|
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|
NM_025137.4(SPG11):c.3789_3797del (p.Asp1264_Leu1266del)
|
rs2140978149
|
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|
NM_025137.4(SPG11):c.378T>C (p.Asp126=)
|
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|
NM_025137.4(SPG11):c.3798C>G (p.Leu1266=)
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NM_025137.4(SPG11):c.3804C>G (p.Leu1268=)
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NM_025137.4(SPG11):c.3808del (p.Val1270fs)
|
|
|
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NM_025137.4(SPG11):c.3809T>A (p.Val1270Asp)
|
rs1555451521
|
|
|
NM_025137.4(SPG11):c.380C>T (p.Ala127Val)
|
rs2085073055
|
|
|
NM_025137.4(SPG11):c.3814A>C (p.Met1272Leu)
|
|
|
|
NM_025137.4(SPG11):c.3814A>G (p.Met1272Val)
|
rs2083107613
|
|
|
NM_025137.4(SPG11):c.3816G>C (p.Met1272Ile)
|
|
|
|
NM_025137.4(SPG11):c.3818A>C (p.Lys1273Thr)
|
rs76389165
|
|
|
NM_025137.4(SPG11):c.3822G>C (p.Val1274=)
|
|
|
|
NM_025137.4(SPG11):c.3824C>A (p.Ala1275Asp)
|
|
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|
NM_025137.4(SPG11):c.3828T>C (p.Asn1276=)
|
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NM_025137.4(SPG11):c.3839G>C (p.Ser1280Thr)
|
|
|
|
NM_025137.4(SPG11):c.3846G>A (p.Lys1282=)
|
|
|
|
NM_025137.4(SPG11):c.384C>G (p.Thr128=)
|
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|
|
NM_025137.4(SPG11):c.3853A>G (p.Asn1285Asp)
|
rs1422320754
|
|
|
NM_025137.4(SPG11):c.3861T>C (p.Asp1287=)
|
|
|
|
NM_025137.4(SPG11):c.3873C>T (p.Ser1291=)
|
|
|
|
NM_025137.4(SPG11):c.3880A>G (p.Arg1294Gly)
|
rs1595863721
|
|
|
NM_025137.4(SPG11):c.3882A>G (p.Arg1294=)
|
|
|
|
NM_025137.4(SPG11):c.3889G>T (p.Val1297Leu)
|
|
|
|
NM_025137.4(SPG11):c.3892+10C>A
|
rs907855830
|
|
|
NM_025137.4(SPG11):c.3892+12T>G
|
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|
|
NM_025137.4(SPG11):c.3892+14T>C
|
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|
NM_025137.4(SPG11):c.3892+14del
|
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NM_025137.4(SPG11):c.3892+16T>C
|
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|
|
NM_025137.4(SPG11):c.3892+20G>T
|
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|
|
NM_025137.4(SPG11):c.3892+3dup
|
rs1265100911
|
|
|
NM_025137.4(SPG11):c.3892+7C>T
|
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|
|
NM_025137.4(SPG11):c.3892+9C>A
|
rs1567151053
|
|
|
NM_025137.4(SPG11):c.3893-11A>T
|
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|
|
NM_025137.4(SPG11):c.3893-13A>G
|
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|
NM_025137.4(SPG11):c.3893-14T>A
|
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|
NM_025137.4(SPG11):c.3893-14_3902inv
|
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|
NM_025137.4(SPG11):c.3893-17_3893-15del
|
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|
NM_025137.4(SPG11):c.3893-20_3893-9del
|
rs765375192
|
|
|
NM_025137.4(SPG11):c.3893-4A>C
|
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|
|
NM_025137.4(SPG11):c.3893-5T>A
|
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|
NM_025137.4(SPG11):c.3893-6T>C
|
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|
|
NM_025137.4(SPG11):c.3893-7C>T
|
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|
NM_025137.4(SPG11):c.3893-8T>A
|
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|
|
NM_025137.4(SPG11):c.3893-8T>C
|
|
|
|
NM_025137.4(SPG11):c.3893C>G (p.Ala1298Gly)
|
|
|
|
NM_025137.4(SPG11):c.3901C>A (p.Leu1301Ile)
|
rs2140977252
|
|
|
NM_025137.4(SPG11):c.3901C>T (p.Leu1301=)
|
|
|
|
NM_025137.4(SPG11):c.3902dup (p.Ser1302fs)
|
|
|
|
NM_025137.4(SPG11):c.3903A>G (p.Leu1301=)
|
|
|
|
NM_025137.4(SPG11):c.3905C>T (p.Ser1302Phe)
|
|
|
|
NM_025137.4(SPG11):c.3906T>C (p.Ser1302=)
|
|
|
|
NM_025137.4(SPG11):c.3909del (p.Lys1303fs)
|
rs2140977221
|
|
|
NM_025137.4(SPG11):c.390G>A (p.Leu130=)
|
|
|
|
NM_025137.4(SPG11):c.3914C>G (p.Ala1305Gly)
|
rs746116309
|
|
|
NM_025137.4(SPG11):c.3922G>A (p.Glu1308Lys)
|
rs779198786
|
|
|
NM_025137.4(SPG11):c.3930A>T (p.Thr1310=)
|
|
|
|
NM_025137.4(SPG11):c.3930_3932del (p.Thr1312del)
|
rs759504944
|
|
|
NM_025137.4(SPG11):c.3932C>T (p.Thr1311Ile)
|
|
|
|
NM_025137.4(SPG11):c.3934A>C (p.Thr1312Pro)
|
rs754276052
|
|
|
NM_025137.4(SPG11):c.3938A>T (p.Glu1313Val)
|
rs1567150790
|
|
|
NM_025137.4(SPG11):c.3943T>C (p.Leu1315=)
|
|
|
|
NM_025137.4(SPG11):c.3951T>C (p.Val1317=)
|
|
|
|
NM_025137.4(SPG11):c.3960A>G (p.Glu1320=)
|
|
|
|
NM_025137.4(SPG11):c.3967A>C (p.Thr1323Pro)
|
|
|
|
NM_025137.4(SPG11):c.396C>T (p.Ser132=)
|
|
|
|
NM_025137.4(SPG11):c.3976A>G (p.Ser1326Gly)
|
|
|
|
NM_025137.4(SPG11):c.3978C>T (p.Ser1326=)
|
|
|
|
NM_025137.4(SPG11):c.3980_3986del (p.Ile1327fs)
|
|
|
|
NM_025137.4(SPG11):c.3986A>G (p.Gln1329Arg)
|
rs2140976920
|
|
|
NM_025137.4(SPG11):c.3987A>G (p.Gln1329=)
|
rs2140976916
|
|
|
NM_025137.4(SPG11):c.398del (p.Cys133fs)
|
rs312262713
|
|
|
NM_025137.4(SPG11):c.3997A>T (p.Lys1333Ter)
|
rs2140976871
|
|
|
NM_025137.4(SPG11):c.3998del (p.Lys1333fs)
|
|
|
|
NM_025137.4(SPG11):c.399T>C (p.Cys133=)
|
rs2141129858
|
|
|
NM_025137.4(SPG11):c.4000_4001del (p.Arg1334fs)
|
|
|
|
NM_025137.4(SPG11):c.4001+13C>A
|
|
|
|
NM_025137.4(SPG11):c.4001+14A>G
|
|
|
|
NM_025137.4(SPG11):c.4001+15G>A
|
rs771279650
|
|
|
NM_025137.4(SPG11):c.4001+16T>A
|
|
|
|
NM_025137.4(SPG11):c.4001+7G>A
|
|
|
|
NM_025137.4(SPG11):c.4001G>A (p.Arg1334Lys)
|
|
|
|
NM_025137.4(SPG11):c.4002-16C>G
|
rs2083059720
|
|
|
NM_025137.4(SPG11):c.4002-18C>T
|
|
|
|
NM_025137.4(SPG11):c.4002-2A>C
|
|
|
|
NM_025137.4(SPG11):c.4002-2A>G
|
rs2140973951
|
|
|
NM_025137.4(SPG11):c.4002-7_4002-1del
|
|
|
|
NM_025137.4(SPG11):c.4008C>G (p.Ser1336=)
|
|
|
|
NM_025137.4(SPG11):c.4012G>C (p.Glu1338Gln)
|
rs1555451163
|
|
|
NM_025137.4(SPG11):c.4012G>T (p.Glu1338Ter)
|
|
|
|
NM_025137.4(SPG11):c.4014A>G (p.Glu1338=)
|
|
|
|
NM_025137.4(SPG11):c.4035A>G (p.Leu1345=)
|
rs2140973839
|
|
|
NM_025137.4(SPG11):c.4043dup (p.Phe1349fs)
|
rs2083058016
|
|
|
NM_025137.4(SPG11):c.4045T>A (p.Phe1349Ile)
|
|
|
|
NM_025137.4(SPG11):c.4046T>A (p.Phe1349Tyr)
|
rs312262758
|
|
|
NM_025137.4(SPG11):c.4047C>T (p.Phe1349=)
|
|
|
|
NM_025137.4(SPG11):c.4052G>A (p.Arg1351Lys)
|
rs564171625
|
|
|
NM_025137.4(SPG11):c.4056A>C (p.Leu1352=)
|
|
|
|
NM_025137.4(SPG11):c.4063A>G (p.Met1355Val)
|
rs2140973745
|
|
|
NM_025137.4(SPG11):c.4065dup (p.Lys1356fs)
|
|
|
|
NM_025137.4(SPG11):c.4072del (p.Ser1358fs)
|
|
|
|
NM_025137.4(SPG11):c.4075A>G (p.Ile1359Val)
|
|
|
|
NM_025137.4(SPG11):c.4077A>T (p.Ile1359=)
|
rs541172391
|
|
|
NM_025137.4(SPG11):c.4082A>C (p.Tyr1361Ser)
|
|
|
|
NM_025137.4(SPG11):c.4083C>T (p.Tyr1361=)
|
|
|
|
NM_025137.4(SPG11):c.408_428del (p.Glu136_Ile142del)
|
rs312262714
|
|
|
NM_025137.4(SPG11):c.4096G>A (p.Ala1366Thr)
|
rs1197681500
|
|
|
NM_025137.4(SPG11):c.4097C>G (p.Ala1366Gly)
|
rs774455763
|
|
|
NM_025137.4(SPG11):c.409G>A (p.Ala137Thr)
|
rs1218211158
|
|
|
NM_025137.4(SPG11):c.4107_4109delinsAG (p.Asn1369fs)
|
|
|
|
NM_025137.4(SPG11):c.4118A>G (p.Gln1373Arg)
|
rs2140973544
|
|
|
NM_025137.4(SPG11):c.4119G>A (p.Gln1373=)
|
|
|
|
NM_025137.4(SPG11):c.4122C>G (p.Phe1374Leu)
|
rs1194478318
|
|
|
NM_025137.4(SPG11):c.4137A>T (p.Gln1379His)
|
rs748617459
|
|
|
NM_025137.4(SPG11):c.4143C>T (p.His1381=)
|
|
|
|
NM_025137.4(SPG11):c.4146C>T (p.Asn1382=)
|
|
|
|
NM_025137.4(SPG11):c.4149C>T (p.Tyr1383=)
|
|
|
|
NM_025137.4(SPG11):c.4155A>C (p.Pro1385=)
|
rs1328264036
|
|
|
NM_025137.4(SPG11):c.415C>G (p.Gln139Glu)
|
|
|
|
NM_025137.4(SPG11):c.4161+14T>C
|
|
|
|
NM_025137.4(SPG11):c.4161+14T>G
|
|
|
|
NM_025137.4(SPG11):c.4161+9C>G
|
rs1555451101
|
|
|
NM_025137.4(SPG11):c.4162-10T>C
|
rs765557765
|
|
|
NM_025137.4(SPG11):c.4162-10T>G
|
|
|
|
NM_025137.4(SPG11):c.4162-11A>C
|
|
|
|
NM_025137.4(SPG11):c.4162-11A>G
|
|
|
|
NM_025137.4(SPG11):c.4162-13A>G
|
|
|
|
NM_025137.4(SPG11):c.4162-19C>T
|
|
|
|
NM_025137.4(SPG11):c.4162-4C>A
|
|
|
|
NM_025137.4(SPG11):c.4162-4C>T
|
rs777010404
|
|
|
NM_025137.4(SPG11):c.4164G>A (p.Val1388=)
|
|
|
|
NM_025137.4(SPG11):c.4164G>C (p.Val1388=)
|
|
|
|
NM_025137.4(SPG11):c.4173T>C (p.Leu1391=)
|
|
|
|
NM_025137.4(SPG11):c.4185C>T (p.Phe1395=)
|
|
|
|
NM_025137.4(SPG11):c.4187G>T (p.Ser1396Ile)
|
rs1390507027
|
|
|
NM_025137.4(SPG11):c.4188C>T (p.Ser1396=)
|
|
|
|
NM_025137.4(SPG11):c.4190C>T (p.Pro1397Leu)
|
rs1595860601
|
|
|
NM_025137.4(SPG11):c.4198C>A (p.Gln1400Lys)
|
|
|
|
NM_025137.4(SPG11):c.4198C>T (p.Gln1400Ter)
|
|
|
|
NM_025137.4(SPG11):c.419del (p.Lys140fs)
|
|
|
|
NM_025137.4(SPG11):c.4200A>G (p.Gln1400=)
|
|
|
|
NM_025137.4(SPG11):c.4204C>A (p.His1402Asn)
|
rs756973532
|
|
|
NM_025137.4(SPG11):c.4204C>T (p.His1402Tyr)
|
rs756973532
|
|
|
NM_025137.4(SPG11):c.4206C>T (p.His1402=)
|
|
|
|
NM_025137.4(SPG11):c.4207T>C (p.Leu1403=)
|
|
|
|
NM_025137.4(SPG11):c.420G>A (p.Lys140=)
|
rs1048849923
|
|
|
NM_025137.4(SPG11):c.4212G>A (p.Arg1404=)
|
rs2140972253
|
|
|
NM_025137.4(SPG11):c.4224G>C (p.Glu1408Asp)
|
|
|
|
NM_025137.4(SPG11):c.4227C>G (p.Asn1409Lys)
|
rs1377515652
|
|
|
NM_025137.4(SPG11):c.4230G>A (p.Leu1410=)
|
|
|
|
NM_025137.4(SPG11):c.4231C>T (p.Pro1411Ser)
|
rs755918798
|
|
|
NM_025137.4(SPG11):c.4232C>T (p.Pro1411Leu)
|
rs2140972200
|
|
|
NM_025137.4(SPG11):c.4233C>G (p.Pro1411=)
|
rs758004741
|
|
|
NM_025137.4(SPG11):c.4233C>T (p.Pro1411=)
|
rs758004741
|
|
|
NM_025137.4(SPG11):c.4237delinsTA (p.Val1413fs)
|
rs2083036101
|
|
|
NM_025137.4(SPG11):c.4239G>A (p.Val1413=)
|
|
|
|
NM_025137.4(SPG11):c.4245C>G (p.Thr1415=)
|
|
|
|
NM_025137.4(SPG11):c.4252del (p.Met1418fs)
|
|
|
|
NM_025137.4(SPG11):c.4253T>A (p.Met1418Lys)
|
rs1370792770
|
|
|
NM_025137.4(SPG11):c.4269C>G (p.Val1423=)
|
|
|
|
NM_025137.4(SPG11):c.4272C>T (p.Cys1424=)
|
|
|
|
NM_025137.4(SPG11):c.4276_4277del (p.Lys1426fs)
|
|
|
|
NM_025137.4(SPG11):c.4281C>G (p.Cys1427Trp)
|
|
|
|
NM_025137.4(SPG11):c.4281C>T (p.Cys1427=)
|
|
|
|
NM_025137.4(SPG11):c.4284C>A (p.Pro1428=)
|
rs1485815455
|
|
|
NM_025137.4(SPG11):c.4290dup (p.Leu1431fs)
|
rs2140972000
|
|
|
NM_025137.4(SPG11):c.4293T>G (p.Leu1431=)
|
|
|
|
NM_025137.4(SPG11):c.42C>A (p.Gly14=)
|
rs376542524
|
|
|
NM_025137.4(SPG11):c.42C>G (p.Gly14=)
|
|
|
|
NM_025137.4(SPG11):c.42C>T (p.Gly14=)
|
|
|
|
NM_025137.4(SPG11):c.4302_4308dup (p.Glu1437fs)
|
|
|
|
NM_025137.4(SPG11):c.4304A>G (p.Lys1435Arg)
|
rs2083034008
|
|
|
NM_025137.4(SPG11):c.430G>A (p.Asp144Asn)
|
|
|
|
NM_025137.4(SPG11):c.430G>T (p.Asp144Tyr)
|
rs747312770
|
|
|
NM_025137.4(SPG11):c.4311G>A (p.Glu1437=)
|
|
|
|
NM_025137.4(SPG11):c.4317C>T (p.Thr1439=)
|
rs1408703691
|
|
|
NM_025137.4(SPG11):c.4319A>T (p.Asp1440Val)
|
rs2140971917
|
|
|
NM_025137.4(SPG11):c.4325T>C (p.Phe1442Ser)
|
rs2140971902
|
|
|
NM_025137.4(SPG11):c.4327G>A (p.Glu1443Lys)
|
rs1338577311
|
|
|
NM_025137.4(SPG11):c.4329A>G (p.Glu1443=)
|
|
|
|
NM_025137.4(SPG11):c.4335G>A (p.Leu1445=)
|
|
|
|
NM_025137.4(SPG11):c.4338C>G (p.Leu1446=)
|
|
|
|
NM_025137.4(SPG11):c.4338C>T (p.Leu1446=)
|
rs1016759628
|
|
|
NM_025137.4(SPG11):c.4339C>T (p.Gln1447Ter)
|
|
|
|
NM_025137.4(SPG11):c.4339_4346del (p.Gln1447fs)
|
|
|
|
NM_025137.4(SPG11):c.433dup (p.Gln145fs)
|
rs780266075
|
|
|
NM_025137.4(SPG11):c.4341A>G (p.Gln1447=)
|
rs369058599
|
|
|
NM_025137.4(SPG11):c.434A>G (p.Gln145Arg)
|
rs780634621
|
|
|
NM_025137.4(SPG11):c.4353G>A (p.Glu1451=)
|
|
|
|
NM_025137.4(SPG11):c.4356A>C (p.Pro1452=)
|
|
|
|
NM_025137.4(SPG11):c.435A>C (p.Gln145His)
|
|
|
|
NM_025137.4(SPG11):c.4365G>A (p.Trp1455Ter)
|
rs138103656
|
|
|
NM_025137.4(SPG11):c.437A>C (p.Asp146Ala)
|
rs182535774
|
|
|
NM_025137.4(SPG11):c.437A>G (p.Asp146Gly)
|
rs182535774
|
|
|
NM_025137.4(SPG11):c.4383A>G (p.Glu1461=)
|
rs764466777
|
|
|
NM_025137.4(SPG11):c.4384G>A (p.Ala1462Thr)
|
rs2140971741
|
|
|
NM_025137.4(SPG11):c.4389G>C (p.Val1463=)
|
|
|
|
NM_025137.4(SPG11):c.438T>C (p.Asp146=)
|
|
|
|
NM_025137.4(SPG11):c.4392A>G (p.Lys1464=)
|
|
|
|
NM_025137.4(SPG11):c.4395A>G (p.Gln1465=)
|
|
|
|
NM_025137.4(SPG11):c.4401C>T (p.Ala1467=)
|
rs1266766497
|
|
|
NM_025137.4(SPG11):c.4402C>G (p.Pro1468Ala)
|
rs2083030697
|
|
|
NM_025137.4(SPG11):c.4404T>G (p.Pro1468=)
|
rs2140971681
|
|
|
NM_025137.4(SPG11):c.4404_4407del (p.Ile1469fs)
|
|
|
|
NM_025137.4(SPG11):c.4406_4407insTA (p.Leu1470fs)
|
rs2140971667
|
|
|
NM_025137.4(SPG11):c.440T>C (p.Ile147Thr)
|
rs547491883
|
|
|
NM_025137.4(SPG11):c.440T>G (p.Ile147Ser)
|
rs547491883
|
|
|
NM_025137.4(SPG11):c.4417C>G (p.Leu1473Val)
|
rs2140971629
|
|
|
NM_025137.4(SPG11):c.4417C>T (p.Leu1473=)
|
|
|
|
NM_025137.4(SPG11):c.4418T>G (p.Leu1473Arg)
|
|
|
|
NM_025137.4(SPG11):c.4419G>A (p.Leu1473=)
|
|
|
|
NM_025137.4(SPG11):c.442+12C>T
|
|
|
|
NM_025137.4(SPG11):c.442+15G>T
|
|
|
|
NM_025137.4(SPG11):c.442+17G>A
|
rs2141129638
|
|
|
NM_025137.4(SPG11):c.442+1G>A
|
|
|
|
NM_025137.4(SPG11):c.442+1G>C
|
rs312262715
|
|
|
NM_025137.4(SPG11):c.442+20C>T
|
|
|
|
NM_025137.4(SPG11):c.442+4_442+7del
|
|
|
|
NM_025137.4(SPG11):c.442+5G>A
|
rs752482400
|
|
|
NM_025137.4(SPG11):c.442+5G>T
|
rs752482400
|
|
|
NM_025137.4(SPG11):c.442+9C>A
|
rs2141129671
|
|
|
NM_025137.4(SPG11):c.4421C>T (p.Ala1474Val)
|
|
|
|
NM_025137.4(SPG11):c.443-12T>A
|
|
|
|
NM_025137.4(SPG11):c.443-13T>G
|
|
|
|
NM_025137.4(SPG11):c.443-14C>T
|
|
|
|
NM_025137.4(SPG11):c.443-1G>A
|
rs1040633382
|
|
|
NM_025137.4(SPG11):c.443-20A>T
|
rs2141126904
|
|
|
NM_025137.4(SPG11):c.443-5T>C
|
|
|
|
NM_025137.4(SPG11):c.443-5del
|
|
|
|
NM_025137.4(SPG11):c.443-6T>C
|
rs754758152
|
|
|
NM_025137.4(SPG11):c.4431C>T (p.Leu1477=)
|
|
|
|
NM_025137.4(SPG11):c.4432C>T (p.Gln1478Ter)
|
rs2140971559
|
|
|
NM_025137.4(SPG11):c.4434+10A>G
|
|
|
|
NM_025137.4(SPG11):c.4434+15A>G
|
|
|
|
NM_025137.4(SPG11):c.4434+1G>A
|
rs1567148391
|
|
|
NM_025137.4(SPG11):c.4434+3G>A
|
|
|
|
NM_025137.4(SPG11):c.4434+6_4434+7insGT
|
rs1374893382
|
|
|
NM_025137.4(SPG11):c.4434+8T>A
|
|
|
|
NM_025137.4(SPG11):c.4435-2A>G
|
rs1555450825
|
|
|
NM_025137.4(SPG11):c.4435-3C>T
|
rs1555450826
|
|
|
NM_025137.4(SPG11):c.4435-7G>A
|
rs199685245
|
|
|
NM_025137.4(SPG11):c.4435-7G>C
|
|
|
|
NM_025137.4(SPG11):c.4435-7G>T
|
|
|
|
NM_025137.4(SPG11):c.4436G>A (p.Gly1479Asp)
|
rs374303102
|
|
|
NM_025137.4(SPG11):c.4436G>T (p.Gly1479Val)
|
|
|
|
NM_025137.4(SPG11):c.4440C>T (p.Ala1480=)
|
|
|
|
NM_025137.4(SPG11):c.4453_4458delinsGAGGCCAGAACACTGAGGATAGGGGCCTGTTGTTTCACTGCTTCAACCAGAAGCCAGTGCCAGGAGTCTGGCTCCTCTGAGCATTGGAGCAGAATTTCAAATAAATCGGTCATCTCTTGTTTGCTTCCTTGAAGTTCCTGGGGGCACTTATTGCAGACTTGATCGCTGTCCATTTTGGAGGTGGGCACTGAGGGCAAGTTCTCAAAAGCCAGCCTTAAGTGGTCTTGAATGACTGGGCTGAAGTACTGGATAAGGGATTTCACCTAGAAGGCATATCAGATGATTAAACAGAAACCCAACTTTCAGTTTCAGCTGGAGCTGAAAATGTTAGAGAAAAGCATAGACAAAATTATGCTTTCTCACCCTGAACTAAGTCAGAGTGACTATTATGTAATTTTACAAAGCTGTA (p.Cys1485_Leu1486delinsGluAlaArgThrLeuArgIleGlyAlaCysCysPheThrAlaSerThrArgSerGlnCysGlnGluSerGlySerSerGluHisTrpSerArgIleSerAsnLysSerValIleSerCysLeuLeuProTer)
|
|
|
|
NM_025137.4(SPG11):c.4455T>G (p.Cys1485Trp)
|
rs2083010716
|
|
|
NM_025137.4(SPG11):c.4456C>A (p.Leu1486Ile)
|
rs2083010648
|
|
|
NM_025137.4(SPG11):c.4462_4463del (p.Val1488fs)
|
rs587777921
|
|
|
NM_025137.4(SPG11):c.446T>A (p.Ile149Asn)
|
rs1595938156
|
|
|
NM_025137.4(SPG11):c.4476T>C (p.Thr1492=)
|
|
|
|
NM_025137.4(SPG11):c.4487A>T (p.Asp1496Val)
|
rs2140970008
|
|
|
NM_025137.4(SPG11):c.4492_4493del (p.Val1498fs)
|
|
|
|
NM_025137.4(SPG11):c.4494T>C (p.Val1498=)
|
|
|
|
NM_025137.4(SPG11):c.4498A>T (p.Thr1500Ser)
|
rs758867131
|
|
|
NM_025137.4(SPG11):c.449C>T (p.Ser150Phe)
|
rs2085034168
|
|
|
NM_025137.4(SPG11):c.4500T>C (p.Thr1500=)
|
|
|
|
NM_025137.4(SPG11):c.4505C>T (p.Ala1502Val)
|
|
|
|
NM_025137.4(SPG11):c.4507A>G (p.Met1503Val)
|
|
|
|
NM_025137.4(SPG11):c.4511G>A (p.Gly1504Glu)
|
|
|
|
NM_025137.4(SPG11):c.4520A>G (p.Gln1507Arg)
|
rs1267260382
|
|
|
NM_025137.4(SPG11):c.4534dup (p.Asp1512fs)
|
|
|
|
NM_025137.4(SPG11):c.4548C>T (p.Asn1516=)
|
|
|
|
NM_025137.4(SPG11):c.4549C>G (p.Leu1517Val)
|
rs942704467
|
|
|
NM_025137.4(SPG11):c.454T>A (p.Leu152Met)
|
|
|
|
NM_025137.4(SPG11):c.4558C>A (p.Leu1520Ile)
|
|
|
|
NM_025137.4(SPG11):c.4562C>G (p.Ser1521Ter)
|
rs1337761270
|
|
|
NM_025137.4(SPG11):c.4566C>T (p.Val1522=)
|
|
|
|
NM_025137.4(SPG11):c.4577C>T (p.Thr1526Ile)
|
|
|
|
NM_025137.4(SPG11):c.4580del (p.Leu1527fs)
|
|
|
|
NM_025137.4(SPG11):c.458C>T (p.Ser153Phe)
|
|
|
|
NM_025137.4(SPG11):c.4591C>T (p.Gln1531Ter)
|
rs1362530862
|
|
|
NM_025137.4(SPG11):c.4592A>C (p.Gln1531Pro)
|
rs2140969699
|
|
|
NM_025137.4(SPG11):c.4593A>G (p.Gln1531=)
|
|
|
|
NM_025137.4(SPG11):c.4599C>G (p.Ser1533Arg)
|
rs758762845
|
|
|
NM_025137.4(SPG11):c.4599C>T (p.Ser1533=)
|
rs758762845
|
|
|
NM_025137.4(SPG11):c.459T>C (p.Ser153=)
|
rs2141126737
|
|
|
NM_025137.4(SPG11):c.45T>A (p.Gly15=)
|
|
|
|
NM_025137.4(SPG11):c.4608C>A (p.Leu1536=)
|
|
|
|
NM_025137.4(SPG11):c.460_461del (p.Leu154fs)
|
rs1595938132
|
|
|
NM_025137.4(SPG11):c.4621C>T (p.Gln1541Ter)
|
rs2140969609
|
|
|
NM_025137.4(SPG11):c.4625T>G (p.Leu1542Arg)
|
rs2083005246
|
|
|
NM_025137.4(SPG11):c.4632T>C (p.Phe1544=)
|
|
|
|
NM_025137.4(SPG11):c.4635+15T>C
|
rs1372156068
|
|
|
NM_025137.4(SPG11):c.4635+19C>T
|
|
|
|
NM_025137.4(SPG11):c.4635+7A>G
|
|
|
|
NM_025137.4(SPG11):c.4636-11C>G
|
|
|
|
NM_025137.4(SPG11):c.4636-11_4636-10del
|
rs765481566
|
|
|
NM_025137.4(SPG11):c.4636-18T>C
|
|
|
|
NM_025137.4(SPG11):c.4636-19T>C
|
|
|
|
NM_025137.4(SPG11):c.4636-20T>A
|
|
|
|
NM_025137.4(SPG11):c.4636-3A>G
|
rs1433545924
|
|
|
NM_025137.4(SPG11):c.4637_4638insATC (p.Asp1546delinsGluSer)
|
rs1595855150
|
|
|
NM_025137.4(SPG11):c.4644G>A (p.Pro1548=)
|
|
|
|
NM_025137.4(SPG11):c.4644G>T (p.Pro1548=)
|
rs1021717728
|
|
|
NM_025137.4(SPG11):c.4647A>G (p.Leu1549=)
|
|
|
|
NM_025137.4(SPG11):c.4648C>T (p.Leu1550=)
|
|
|
|
NM_025137.4(SPG11):c.4650A>G (p.Leu1550=)
|
rs2140963415
|
|
|
NM_025137.4(SPG11):c.4651C>A (p.Leu1551Met)
|
rs1595855125
|
|
|
NM_025137.4(SPG11):c.4659G>A (p.Met1553Ile)
|
|
|
|
NM_025137.4(SPG11):c.4661A>C (p.Glu1554Ala)
|
rs2082925039
|
|
|
NM_025137.4(SPG11):c.4664T>C (p.Met1555Thr)
|
rs2140963348
|
|
|
NM_025137.4(SPG11):c.4668T>A (p.Tyr1556Ter)
|
rs312262761
|
|
|
NM_025137.4(SPG11):c.4672C>T (p.Leu1558=)
|
rs2140963298
|
|
|
NM_025137.4(SPG11):c.4673del (p.Leu1558fs)
|
rs2140963289
|
|
|
NM_025137.4(SPG11):c.4675T>C (p.Cys1559Arg)
|
|
|
|
NM_025137.4(SPG11):c.4675T>G (p.Cys1559Gly)
|
rs757658545
|
|
|
NM_025137.4(SPG11):c.4680G>A (p.Met1560Ile)
|
rs1281792255
|
|
|
NM_025137.4(SPG11):c.4687del (p.Arg1563fs)
|
|
|
|
NM_025137.4(SPG11):c.4699_4700del (p.Glu1567fs)
|
rs2082923260
|
|
|
NM_025137.4(SPG11):c.4708G>C (p.Ala1570Pro)
|
rs2082922918
|
|
|
NM_025137.4(SPG11):c.4717C>G (p.Leu1573Val)
|
rs560868702
|
|
|
NM_025137.4(SPG11):c.4717C>T (p.Leu1573=)
|
rs560868702
|
|
|
NM_025137.4(SPG11):c.4718T>C (p.Leu1573Pro)
|
|
|
|
NM_025137.4(SPG11):c.4725T>G (p.Phe1575Leu)
|
|
|
|
NM_025137.4(SPG11):c.4725dup (p.Gln1576fs)
|
|
|
|
NM_025137.4(SPG11):c.4743+15T>C
|
|
|
|
NM_025137.4(SPG11):c.4743+17G>C
|
|
|
|
NM_025137.4(SPG11):c.4743+18T>C
|
|
|
|
NM_025137.4(SPG11):c.4743+19G>C
|
|
|
|
NM_025137.4(SPG11):c.4743+8G>A
|
rs2140963061
|
|
|
NM_025137.4(SPG11):c.4743+9G>C
|
|
|
|
NM_025137.4(SPG11):c.4743+9del
|
|
|
|
NM_025137.4(SPG11):c.4744-11T>C
|
|
|
|
NM_025137.4(SPG11):c.4744-15C>G
|
|
|
|
NM_025137.4(SPG11):c.4744-20C>T
|
|
|
|
NM_025137.4(SPG11):c.4744-7T>G
|
|
|
|
NM_025137.4(SPG11):c.4746T>G (p.Leu1582=)
|
rs1595851030
|
|
|
NM_025137.4(SPG11):c.4753_4761del (p.Ala1585_Thr1587del)
|
rs2082846485
|
|
|
NM_025137.4(SPG11):c.4756G>A (p.Ala1586Thr)
|
|
|
|
NM_025137.4(SPG11):c.4758C>A (p.Ala1586=)
|
|
|
|
NM_025137.4(SPG11):c.4761A>G (p.Thr1587=)
|
|
|
|
NM_025137.4(SPG11):c.4768del (p.His1590fs)
|
|
|
|
NM_025137.4(SPG11):c.4773dup (p.Val1592fs)
|
rs1064795062
|
|
|
NM_025137.4(SPG11):c.4776C>T (p.Val1592=)
|
|
|
|
NM_025137.4(SPG11):c.4777del (p.Ile1593fs)
|
rs1064797055
|
|
|
NM_025137.4(SPG11):c.4780C>G (p.Pro1594Ala)
|
rs771186100
|
|
|
NM_025137.4(SPG11):c.4794G>A (p.Leu1598=)
|
|
|
|
NM_025137.4(SPG11):c.4798dup (p.Asp1600fs)
|
|
|
|
NM_025137.4(SPG11):c.4804G>A (p.Val1602Met)
|
rs754536969
|
|
|
NM_025137.4(SPG11):c.4804G>T (p.Val1602Leu)
|
rs754536969
|
|
|
NM_025137.4(SPG11):c.4805T>A (p.Val1602Glu)
|
rs1452836790
|
|
|
NM_025137.4(SPG11):c.4811dup (p.Leu1605fs)
|
rs760618394
|
|
|
NM_025137.4(SPG11):c.4813del (p.Leu1605fs)
|
rs2082844329
|
|
|
NM_025137.4(SPG11):c.4814T>G (p.Leu1605Arg)
|
rs1260241430
|
|
|
NM_025137.4(SPG11):c.4817del (p.Leu1605_Leu1606insTer)
|
|
|
|
NM_025137.4(SPG11):c.4820A>G (p.Lys1607Arg)
|
rs2082844140
|
|
|
NM_025137.4(SPG11):c.4824T>C (p.Leu1608=)
|
|
|
|
NM_025137.4(SPG11):c.4826T>C (p.Met1609Thr)
|
rs2140956945
|
|
|
NM_025137.4(SPG11):c.4830dup (p.Gln1611fs)
|
|
|
|
NM_025137.4(SPG11):c.4834C>T (p.Gln1612Ter)
|
|
|
|
NM_025137.4(SPG11):c.4836G>A (p.Gln1612=)
|
|
|
|
NM_025137.4(SPG11):c.4837T>G (p.Cys1613Gly)
|
|
|
|
NM_025137.4(SPG11):c.4846C>T (p.Gln1616Ter)
|
rs312262762
|
|
|
NM_025137.4(SPG11):c.4851T>C (p.Tyr1617=)
|
|
|
|
NM_025137.4(SPG11):c.4852G>T (p.Glu1618Ter)
|
rs2082843264
|
|
|
NM_025137.4(SPG11):c.4860dup (p.Lys1621fs)
|
rs1418873962
|
|
|
NM_025137.4(SPG11):c.4868del (p.Leu1623fs)
|
|
|
|
NM_025137.4(SPG11):c.4868dup (p.Leu1623fs)
|
|
|
|
NM_025137.4(SPG11):c.486C>T (p.Asn162=)
|
|
|
|
NM_025137.4(SPG11):c.4870C>T (p.Gln1624Ter)
|
|
|
|
NM_025137.4(SPG11):c.4871del (p.Gln1624fs)
|
|
|
|
NM_025137.4(SPG11):c.4874dup (p.Phe1626fs)
|
|
|
|
NM_025137.4(SPG11):c.4875C>G (p.Leu1625=)
|
rs751776468
|
|
|
NM_025137.4(SPG11):c.4877_4878del (p.Phe1626fs)
|
rs2082842632
|
|
|
NM_025137.4(SPG11):c.4888G>C (p.Glu1630Gln)
|
rs368276916
|
|
|
NM_025137.4(SPG11):c.4896C>G (p.Leu1632=)
|
rs938056721
|
|
|
NM_025137.4(SPG11):c.4904A>G (p.Asp1635Gly)
|
|
|
|
NM_025137.4(SPG11):c.4906+10T>C
|
|
|
|
NM_025137.4(SPG11):c.4906+11C>G
|
|
|
|
NM_025137.4(SPG11):c.4906+16C>T
|
|
|
|
NM_025137.4(SPG11):c.4906+17A>G
|
|
|
|
NM_025137.4(SPG11):c.4906+1G>A
|
rs1567142780
|
|
|
NM_025137.4(SPG11):c.4906+2T>C
|
|
|
|
NM_025137.4(SPG11):c.4906+4_4906+6dup
|
|
|
|
NM_025137.4(SPG11):c.4907-10_4911del
|
rs2082751022
|
|
|
NM_025137.4(SPG11):c.4907-2A>C
|
|
|
|
NM_025137.4(SPG11):c.4907-5C>T
|
rs531032784
|
|
|
NM_025137.4(SPG11):c.4911A>G (p.Pro1637=)
|
|
|
|
NM_025137.4(SPG11):c.4915G>A (p.Val1639Met)
|
|
|
|
NM_025137.4(SPG11):c.4920A>G (p.Lys1640=)
|
rs2140950308
|
|
|
NM_025137.4(SPG11):c.4923G>A (p.Lys1641=)
|
rs150218102
|
|
|
NM_025137.4(SPG11):c.492A>G (p.Ser164=)
|
|
|
|
NM_025137.4(SPG11):c.4930A>G (p.Ile1644Val)
|
rs1240092659
|
|
|
NM_025137.4(SPG11):c.4932C>T (p.Ile1644=)
|
|
|
|
NM_025137.4(SPG11):c.4941G>A (p.Gln1647=)
|
|
|
|
NM_025137.4(SPG11):c.4950G>A (p.Lys1650=)
|
|
|
|
NM_025137.4(SPG11):c.4955C>A (p.Thr1652Lys)
|
|
|
|
NM_025137.4(SPG11):c.4956A>T (p.Thr1652=)
|
|
|
|
NM_025137.4(SPG11):c.4959C>T (p.Ser1653=)
|
|
|
|
NM_025137.4(SPG11):c.496C>T (p.Leu166=)
|
rs372037097
|
|
|
NM_025137.4(SPG11):c.4973A>G (p.His1658Arg)
|
|
|
|
NM_025137.4(SPG11):c.4978A>G (p.Ile1660Val)
|
|
|
|
NM_025137.4(SPG11):c.4982T>C (p.Ile1661Thr)
|
|
|
|
NM_025137.4(SPG11):c.4985C>A (p.Thr1662Asn)
|
|
|
|
NM_025137.4(SPG11):c.498G>A (p.Leu166=)
|
|
|
|
NM_025137.4(SPG11):c.4G>A (p.Ala2Thr)
|
rs1566838999
|
|
|
NM_025137.4(SPG11):c.5001G>T (p.Glu1667Asp)
|
rs1595845664
|
|
|
NM_025137.4(SPG11):c.5014G>T (p.Glu1672Ter)
|
|
|
|
NM_025137.4(SPG11):c.5017T>C (p.Cys1673Arg)
|
|
|
|
NM_025137.4(SPG11):c.501C>G (p.Phe167Leu)
|
rs771462279
|
|
|
NM_025137.4(SPG11):c.5031G>A (p.Leu1677=)
|
|
|
|
NM_025137.4(SPG11):c.5032G>A (p.Glu1678Lys)
|
|
|
|
NM_025137.4(SPG11):c.5032G>T (p.Glu1678Ter)
|
rs1277084672
|
|
|
NM_025137.4(SPG11):c.5052A>G (p.Gly1684=)
|
|
|
|
NM_025137.4(SPG11):c.5052A>T (p.Gly1684=)
|
|
|
|
NM_025137.4(SPG11):c.5055A>G (p.Gln1685=)
|
rs758497624
|
|
|
NM_025137.4(SPG11):c.5055A>T (p.Gln1685His)
|
|
|
|
NM_025137.4(SPG11):c.5058_5061del (p.Ala1687fs)
|
|
|
|
NM_025137.4(SPG11):c.5073G>A (p.Arg1691=)
|
rs2082747265
|
|
|
NM_025137.4(SPG11):c.5076A>G (p.Val1692=)
|
|
|
|
NM_025137.4(SPG11):c.5076A>T (p.Val1692=)
|
|
|
|
NM_025137.4(SPG11):c.5086G>A (p.Ala1696Thr)
|
rs2140949961
|
|
|
NM_025137.4(SPG11):c.5087C>G (p.Ala1696Gly)
|
|
|
|
NM_025137.4(SPG11):c.5091G>A (p.Glu1697=)
|
|
|
|
NM_025137.4(SPG11):c.5093T>A (p.Leu1698Ter)
|
rs1462607878
|
|
|
NM_025137.4(SPG11):c.50G>A (p.Trp17Ter)
|
rs1339135039
|
|
|
NM_025137.4(SPG11):c.5106C>G (p.Asn1702Lys)
|
rs762524521
|
|
|
NM_025137.4(SPG11):c.5109G>A (p.Leu1703=)
|
|
|
|
NM_025137.4(SPG11):c.5109_5115dup (p.Lys1706delinsGlyTyrTer)
|
|
|
|
NM_025137.4(SPG11):c.5110G>A (p.Val1704Ile)
|
rs931856984
|
|
|
NM_025137.4(SPG11):c.5110G>T (p.Val1704Phe)
|
rs931856984
|
|
|
NM_025137.4(SPG11):c.5115T>C (p.Ile1705=)
|
|
|
|
NM_025137.4(SPG11):c.5117_5118del (p.Lys1706fs)
|
|
|
|
NM_025137.4(SPG11):c.5121+10G>A
|
|
|
|
NM_025137.4(SPG11):c.5121+10G>T
|
|
|
|
NM_025137.4(SPG11):c.5121+11T>C
|
|
|
|
NM_025137.4(SPG11):c.5121+12C>A
|
|
|
|
NM_025137.4(SPG11):c.5121+12C>T
|
rs199766848
|
|
|
NM_025137.4(SPG11):c.5121+12del
|
|
|
|
NM_025137.4(SPG11):c.5121+13T>C
|
|
|
|
NM_025137.4(SPG11):c.5121+15T>C
|
rs1567139953
|
|
|
NM_025137.4(SPG11):c.5121+19T>G
|
|
|
|
NM_025137.4(SPG11):c.5121+2T>G
|
|
|
|
NM_025137.4(SPG11):c.5121+8C>A
|
rs779071284
|
|
|
NM_025137.4(SPG11):c.5121+8C>T
|
rs779071284
|
|
|
NM_025137.4(SPG11):c.5121+8_5121+9insTCT
|
rs1555449193
|
|
|
NM_025137.4(SPG11):c.5121+9G>A
|
|
|
|
NM_025137.4(SPG11):c.5122-11A>C
|
|
|
|
NM_025137.4(SPG11):c.5122-12T>G
|
|
|
|
NM_025137.4(SPG11):c.5122-18C>T
|
|
|
|
NM_025137.4(SPG11):c.5122-1G>A
|
rs2140947703
|
|
|
NM_025137.4(SPG11):c.5122-5C>A
|
rs749419579
|
|
|
NM_025137.4(SPG11):c.5122-5C>T
|
rs749419579
|
|
|
NM_025137.4(SPG11):c.5122-6T>C
|
rs2140947711
|
|
|
NM_025137.4(SPG11):c.5122-6del
|
rs1379359957
|
|
|
NM_025137.4(SPG11):c.5135T>G (p.Met1712Arg)
|
rs1555448989
|
|
|
NM_025137.4(SPG11):c.5136G>A (p.Met1712Ile)
|
|
|
|
NM_025137.4(SPG11):c.5148dup (p.His1717fs)
|
rs1422477670
|
|
|
NM_025137.4(SPG11):c.5150A>G (p.His1717Arg)
|
|
|
|
NM_025137.4(SPG11):c.5161_5176del (p.Trp1721fs)
|
|
|
|
NM_025137.4(SPG11):c.5167C>T (p.Leu1723=)
|
|
|
|
NM_025137.4(SPG11):c.5172A>G (p.Lys1724=)
|
rs748433681
|
|
|
NM_025137.4(SPG11):c.5175del (p.Ala1726fs)
|
rs1060499768
|
|
|
NM_025137.4(SPG11):c.5175dup (p.Ala1726fs)
|
|
|
|
NM_025137.4(SPG11):c.5177C>G (p.Ala1726Gly)
|
rs1252919994
|
|
|
NM_025137.4(SPG11):c.5193G>A (p.Trp1731Ter)
|
|
|
|
NM_025137.4(SPG11):c.5199del (p.Lys1733fs)
|
rs779268551
|
|
|
NM_025137.4(SPG11):c.5199dup (p.Cys1734fs)
|
|
|
|
NM_025137.4(SPG11):c.519C>A (p.Ile173=)
|
|
|
|
NM_025137.4(SPG11):c.5208G>T (p.Glu1736Asp)
|
rs2082717835
|
|
|
NM_025137.4(SPG11):c.5211T>A (p.Asn1737Lys)
|
rs1024346199
|
|
|
NM_025137.4(SPG11):c.5211T>C (p.Asn1737=)
|
rs1024346199
|
|
|
NM_025137.4(SPG11):c.5215A>C (p.Lys1739Gln)
|
|
|
|
NM_025137.4(SPG11):c.5220_5224del (p.Lys1740fs)
|
|
|
|
NM_025137.4(SPG11):c.5227A>G (p.Ile1743Val)
|
rs1419267108
|
|
|
NM_025137.4(SPG11):c.5234G>A (p.Ser1745Asn)
|
|
|
|
NM_025137.4(SPG11):c.5243C>G (p.Ala1748Gly)
|
rs2082716750
|
|
|
NM_025137.4(SPG11):c.5246C>T (p.Ser1749Phe)
|
rs1555448970
|
|
|
NM_025137.4(SPG11):c.5248del (p.Ser1750fs)
|
rs2140947448
|
|
|
NM_025137.4(SPG11):c.5249_5252del (p.Ser1750fs)
|
|
|
|
NM_025137.4(SPG11):c.524A>G (p.His175Arg)
|
rs895170417
|
|
|
NM_025137.4(SPG11):c.5255del (p.Phe1752fs)
|
rs312262763
|
|
|
NM_025137.4(SPG11):c.5256C>G (p.Phe1752Leu)
|
rs2140947410
|
|
|
NM_025137.4(SPG11):c.5258C>A (p.Ser1753Ter)
|
|
|
|
NM_025137.4(SPG11):c.5262C>T (p.Thr1754=)
|
|
|
|
NM_025137.4(SPG11):c.5263C>T (p.Gln1755Ter)
|
|
|
|
NM_025137.4(SPG11):c.5266G>A (p.Ala1756Thr)
|
|
|
|
NM_025137.4(SPG11):c.5268C>T (p.Ala1756=)
|
rs1488363389
|
|
|
NM_025137.4(SPG11):c.5271T>C (p.His1757=)
|
rs2082715909
|
|
|
NM_025137.4(SPG11):c.5277A>G (p.Ala1759=)
|
|
|
|
NM_025137.4(SPG11):c.5277A>T (p.Ala1759=)
|
|
|
|
NM_025137.4(SPG11):c.527T>C (p.Ile176Thr)
|
rs2085031500
|
|
|
NM_025137.4(SPG11):c.5280T>C (p.Cys1760=)
|
|
|
|
NM_025137.4(SPG11):c.5289A>C (p.Pro1763=)
|
|
|
|
NM_025137.4(SPG11):c.5290dup (p.Thr1764fs)
|
|
|
|
NM_025137.4(SPG11):c.5294G>A (p.Gly1765Glu)
|
|
|
|
NM_025137.4(SPG11):c.529A>G (p.Ile177Val)
|
|
|
|
NM_025137.4(SPG11):c.529_533del (p.Ile177fs)
|
rs312262716
|
|
|
NM_025137.4(SPG11):c.5301C>T (p.Ser1767=)
|
rs2082715269
|
|
|
NM_025137.4(SPG11):c.5303G>A (p.Ser1768Asn)
|
|
|
|
NM_025137.4(SPG11):c.5305_5316del (p.Met1769_Arg1772del)
|
rs2140947284
|
|
|
NM_025137.4(SPG11):c.530T>C (p.Ile177Thr)
|
|
|
|
NM_025137.4(SPG11):c.5314C>T (p.Arg1772Cys)
|
|
|
|
NM_025137.4(SPG11):c.5316C>T (p.Arg1772=)
|
|
|
|
NM_025137.4(SPG11):c.5322G>A (p.Leu1774=)
|
|
|
|
NM_025137.4(SPG11):c.5326C>T (p.Leu1776Phe)
|
|
|
|
NM_025137.4(SPG11):c.5328C>T (p.Leu1776=)
|
|
|
|
NM_025137.4(SPG11):c.5330C>G (p.Thr1777Ser)
|
|
|
|
NM_025137.4(SPG11):c.5330_5333del (p.Thr1777fs)
|
|
|
|
NM_025137.4(SPG11):c.5334G>A (p.Leu1778=)
|
rs369354037
|
|
|
NM_025137.4(SPG11):c.5335del (p.Ala1779fs)
|
|
|
|
NM_025137.4(SPG11):c.5337A>G (p.Ala1779=)
|
|
|
|
NM_025137.4(SPG11):c.5340G>A (p.Gly1780=)
|
|
|
|
NM_025137.4(SPG11):c.5354A>C (p.Gln1785Pro)
|
rs1050403502
|
|
|
NM_025137.4(SPG11):c.5367G>A (p.Val1789=)
|
|
|
|
NM_025137.4(SPG11):c.5370C>T (p.Pro1790=)
|
|
|
|
NM_025137.4(SPG11):c.5371T>C (p.Leu1791=)
|
rs2140947185
|
|
|
NM_025137.4(SPG11):c.5386_5394del (p.Glu1796_Glu1798del)
|
rs765129142
|
|
|
NM_025137.4(SPG11):c.5386_5394dup (p.Glu1798_Lys1799insGluLeuGlu)
|
|
|
|
NM_025137.4(SPG11):c.5391G>A (p.Leu1797=)
|
|
|
|
NM_025137.4(SPG11):c.5397G>T (p.Lys1799Asn)
|
|
|
|
NM_025137.4(SPG11):c.5398C>T (p.Gln1800Ter)
|
rs1287370710
|
|
|
NM_025137.4(SPG11):c.5399_5402delinsTGGAGGAG (p.Gln1800fs)
|
rs312262765
|
|
|
NM_025137.4(SPG11):c.53dup (p.Thr19fs)
|
|
|
|
NM_025137.4(SPG11):c.5403C>A (p.Ile1801=)
|
|
|
|
NM_025137.4(SPG11):c.5409G>A (p.Leu1803=)
|
|
|
|
NM_025137.4(SPG11):c.5410_5411del (p.Cys1804fs)
|
rs312262766
|
|
|
NM_025137.4(SPG11):c.5413C>T (p.Arg1805Cys)
|
|
|
|
NM_025137.4(SPG11):c.5414G>C (p.Arg1805Pro)
|
|
|
|
NM_025137.4(SPG11):c.541A>C (p.Arg181=)
|
|
|
|
NM_025137.4(SPG11):c.5422C>T (p.Gln1808Ter)
|
|
|
|
NM_025137.4(SPG11):c.5426A>G (p.His1809Arg)
|
rs1555448900
|
|
|
NM_025137.4(SPG11):c.5428A>T (p.Thr1810Ser)
|
rs1404988525
|
|
|
NM_025137.4(SPG11):c.5432T>C (p.Leu1811Pro)
|
|
|
|
NM_025137.4(SPG11):c.5433T>C (p.Leu1811=)
|
|
|
|
NM_025137.4(SPG11):c.5437A>G (p.Arg1813Gly)
|
rs1595843157
|
|
|
NM_025137.4(SPG11):c.5443C>T (p.Gln1815Ter)
|
|
|
|
NM_025137.4(SPG11):c.5448G>A (p.Glu1816=)
|
|
|
|
NM_025137.4(SPG11):c.5450A>G (p.Glu1817Gly)
|
rs2082711302
|
|
|
NM_025137.4(SPG11):c.5452del (p.Thr1818fs)
|
|
|
|
NM_025137.4(SPG11):c.5454A>G (p.Thr1818=)
|
rs2140946988
|
|
|
NM_025137.4(SPG11):c.545A>C (p.Asp182Ala)
|
rs143636318
|
|
|
NM_025137.4(SPG11):c.545A>T (p.Asp182Val)
|
|
|
|
NM_025137.4(SPG11):c.5462G>A (p.Arg1821Lys)
|
rs777449266
|
|
|
NM_025137.4(SPG11):c.5465_5477del (p.Phe1822fs)
|
rs1567138536
|
|
|
NM_025137.4(SPG11):c.5476A>G (p.Ile1826Val)
|
rs1251056690
|
|
|
NM_025137.4(SPG11):c.5482A>G (p.Thr1828Ala)
|
rs2082710576
|
|
|
NM_025137.4(SPG11):c.5489G>C (p.Gly1830Ala)
|
rs529748787
|
|
|
NM_025137.4(SPG11):c.5492A>G (p.Glu1831Gly)
|
rs2140946907
|
|
|
NM_025137.4(SPG11):c.5497T>C (p.Ser1833Pro)
|
rs766375553
|
|
|
NM_025137.4(SPG11):c.5497T>G (p.Ser1833Ala)
|
rs766375553
|
|
|
NM_025137.4(SPG11):c.5499C>G (p.Ser1833=)
|
rs2140946879
|
|
|
NM_025137.4(SPG11):c.54C>A (p.Gly18=)
|
|
|
|
NM_025137.4(SPG11):c.54C>T (p.Gly18=)
|
|
|
|
NM_025137.4(SPG11):c.5512G>C (p.Ala1838Pro)
|
rs761774708
|
|
|
NM_025137.4(SPG11):c.5528del (p.Phe1843fs)
|
|
|
|
NM_025137.4(SPG11):c.5529C>T (p.Phe1843=)
|
|
|
|
NM_025137.4(SPG11):c.5532_5533del (p.Lys1845fs)
|
rs312262768
|
|
|
NM_025137.4(SPG11):c.5536T>C (p.Leu1846=)
|
|
|
|
NM_025137.4(SPG11):c.5537T>C (p.Leu1846Ser)
|
rs760831525
|
|
|
NM_025137.4(SPG11):c.5550C>G (p.Asn1850Lys)
|
|
|
|
NM_025137.4(SPG11):c.5551A>C (p.Thr1851Pro)
|
|
|
|
NM_025137.4(SPG11):c.5553A>G (p.Thr1851=)
|
|
|
|
NM_025137.4(SPG11):c.5553A>T (p.Thr1851=)
|
|
|
|
NM_025137.4(SPG11):c.5557A>G (p.Lys1853Glu)
|
|
|
|
NM_025137.4(SPG11):c.5565A>G (p.Leu1855=)
|
|
|
|
NM_025137.4(SPG11):c.5566G>C (p.Glu1856Gln)
|
|
|
|
NM_025137.4(SPG11):c.5570T>G (p.Leu1857Arg)
|
rs1425480106
|
|
|
NM_025137.4(SPG11):c.5571_5572insTCT (p.Leu1857_Asn1858insSer)
|
rs1185237931
|
|
|
NM_025137.4(SPG11):c.5583A>C (p.Pro1861=)
|
|
|
|
NM_025137.4(SPG11):c.5592_5593del (p.Glu1864fs)
|
|
|
|
NM_025137.4(SPG11):c.5595A>C (p.Thr1865=)
|
|
|
|
NM_025137.4(SPG11):c.5596T>C (p.Cys1866Arg)
|
|
|
|
NM_025137.4(SPG11):c.5598C>A (p.Cys1866Ter)
|
|
|
|
NM_025137.4(SPG11):c.5599del (p.Glu1867fs)
|
|
|
|
NM_025137.4(SPG11):c.5604T>C (p.Asn1868=)
|
|
|
|
NM_025137.4(SPG11):c.5607del (p.Arg1869fs)
|
|
|
|
NM_025137.4(SPG11):c.560T>C (p.Val187Ala)
|
rs2085030329
|
|
|
NM_025137.4(SPG11):c.5615G>C (p.Trp1872Ser)
|
rs1567138385
|
|
|
NM_025137.4(SPG11):c.5618A>G (p.Lys1873Arg)
|
|
|
|
NM_025137.4(SPG11):c.5628G>A (p.Glu1876=)
|
rs758313148
|
|
|
NM_025137.4(SPG11):c.5630C>T (p.Ser1877Leu)
|
|
|
|
NM_025137.4(SPG11):c.5634A>C (p.Leu1878=)
|
|
|
|
NM_025137.4(SPG11):c.5634A>G (p.Leu1878=)
|
|
|
|
NM_025137.4(SPG11):c.5641T>C (p.Leu1881=)
|
|
|
|
NM_025137.4(SPG11):c.5644A>T (p.Ile1882Phe)
|
rs200645188
|
|
|
NM_025137.4(SPG11):c.5645T>G (p.Ile1882Ser)
|
|
|
|
NM_025137.4(SPG11):c.5651G>A (p.Arg1884His)
|
rs767776590
|
|
|
NM_025137.4(SPG11):c.5652C>T (p.Arg1884=)
|
|
|
|
NM_025137.4(SPG11):c.5655A>G (p.Leu1885=)
|
|
|
|
NM_025137.4(SPG11):c.5664T>C (p.Asp1888=)
|
rs886051181
|
|
|
NM_025137.4(SPG11):c.5670T>C (p.Cys1890=)
|
|
|
|
NM_025137.4(SPG11):c.5677G>T (p.Glu1893Ter)
|
|
|
|
NM_025137.4(SPG11):c.5689G>A (p.Val1897Ile)
|
|
|
|
NM_025137.4(SPG11):c.5694C>T (p.Cys1898=)
|
rs1217386610
|
|
|
NM_025137.4(SPG11):c.5697_5706del (p.Tyr1900fs)
|
|
|
|
NM_025137.4(SPG11):c.5703del (p.His1902fs)
|
rs312262769
|
|
|
NM_025137.4(SPG11):c.5719G>A (p.Asp1907Asn)
|
|
|
|
NM_025137.4(SPG11):c.5727C>T (p.Ala1909=)
|
|
|
|
NM_025137.4(SPG11):c.5735T>G (p.Leu1912Trp)
|
|
|
|
NM_025137.4(SPG11):c.5738A>G (p.His1913Arg)
|
rs2082704823
|
|
|
NM_025137.4(SPG11):c.5743A>C (p.Arg1915=)
|
|
|
|
NM_025137.4(SPG11):c.5747C>T (p.Ala1916Val)
|
rs2140946431
|
|
|
NM_025137.4(SPG11):c.5749C>T (p.Leu1917=)
|
|
|
|
NM_025137.4(SPG11):c.5755T>A (p.Ser1919Thr)
|
|
|
|
NM_025137.4(SPG11):c.5756C>T (p.Ser1919Leu)
|
rs1555448839
|
|
|
NM_025137.4(SPG11):c.5759G>A (p.Gly1920Glu)
|
rs1445593607
|
|
|
NM_025137.4(SPG11):c.5760G>A (p.Gly1920=)
|
|
|
|
NM_025137.4(SPG11):c.5767A>T (p.Ser1923Cys)
|
rs1555448836
|
|
|
NM_025137.4(SPG11):c.5769T>C (p.Ser1923=)
|
rs1313485862
|
|
|
NM_025137.4(SPG11):c.5769del (p.Ser1923fs)
|
rs312262770
|
|
|
NM_025137.4(SPG11):c.5769dup (p.Met1924fs)
|
rs1595842556
|
|
|
NM_025137.4(SPG11):c.576A>C (p.Thr192=)
|
rs2141126286
|
|
|
NM_025137.4(SPG11):c.5775G>C (p.Glu1925Asp)
|
rs1567138139
|
|
|
NM_025137.4(SPG11):c.577del (p.Leu193fs)
|
|
|
|
NM_025137.4(SPG11):c.5784C>T (p.His1928=)
|
|
|
|
NM_025137.4(SPG11):c.5794del (p.His1932fs)
|
|
|
|
NM_025137.4(SPG11):c.5798del (p.Ala1933fs)
|
rs312262771
|
|
|
NM_025137.4(SPG11):c.57C>G (p.Thr19=)
|
rs1380799323
|
|
|
NM_025137.4(SPG11):c.57C>T (p.Thr19=)
|
|
|
|
NM_025137.4(SPG11):c.5803C>G (p.Leu1935Val)
|
rs746663514
|
|
|
NM_025137.4(SPG11):c.5805A>G (p.Leu1935=)
|
|
|
|
NM_025137.4(SPG11):c.5806C>T (p.Gln1936Ter)
|
|
|
|
NM_025137.4(SPG11):c.5815G>T (p.Glu1939Ter)
|
rs2082702986
|
|
|
NM_025137.4(SPG11):c.5820G>A (p.Leu1940=)
|
|
|
|
NM_025137.4(SPG11):c.5826G>A (p.Glu1942=)
|
rs2140946251
|
|
|
NM_025137.4(SPG11):c.5827G>A (p.Glu1943Lys)
|
|
|
|
NM_025137.4(SPG11):c.5829A>G (p.Glu1943=)
|
|
|
|
NM_025137.4(SPG11):c.582C>T (p.Pro194=)
|
|
|
|
NM_025137.4(SPG11):c.5838C>G (p.Pro1946=)
|
|
|
|
NM_025137.4(SPG11):c.5839G>T (p.Asp1947Tyr)
|
rs751801619
|
|
|
NM_025137.4(SPG11):c.5842dup (p.Ile1948fs)
|
rs1555448810
|
|
|
NM_025137.4(SPG11):c.5844del (p.Pro1949_Leu1950insTer)
|
rs1323156960
|
|
|
NM_025137.4(SPG11):c.5854dup (p.Arg1952fs)
|
|
|
|
NM_025137.4(SPG11):c.5861A>C (p.His1954Pro)
|
rs954248015
|
|
|
NM_025137.4(SPG11):c.5861A>G (p.His1954Arg)
|
rs954248015
|
|
|
NM_025137.4(SPG11):c.5862C>T (p.His1954=)
|
rs2140946181
|
|
|
NM_025137.4(SPG11):c.5864G>A (p.Ser1955Asn)
|
|
|
|
NM_025137.4(SPG11):c.5864del (p.Ser1955fs)
|
|
|
|
NM_025137.4(SPG11):c.5866+11G>A
|
|
|
|
NM_025137.4(SPG11):c.5866+16C>A
|
rs530748278
|
|
|
NM_025137.4(SPG11):c.5866+16C>G
|
|
|
|
NM_025137.4(SPG11):c.5866+5G>A
|
rs1256036525
|
|
|
NM_025137.4(SPG11):c.5866+5G>C
|
rs1256036525
|
|
|
NM_025137.4(SPG11):c.5866+7G>A
|
|
|
|
NM_025137.4(SPG11):c.5866_5866+4del
|
rs771346977
|
|
|
NM_025137.4(SPG11):c.5867-13T>C
|
|
|
|
NM_025137.4(SPG11):c.5867-13T>G
|
|
|
|
NM_025137.4(SPG11):c.5867-17C>T
|
|
|
|
NM_025137.4(SPG11):c.5867-1G>A
|
rs1060501168
|
|
|
NM_025137.4(SPG11):c.5867-1G>T
|
rs1060501168
|
|
|
NM_025137.4(SPG11):c.5867-3237_6478-451del
|
|
|
|
NM_025137.4(SPG11):c.5867-6T>G
|
|
|
|
NM_025137.4(SPG11):c.5867-8G>C
|
|
|
|
NM_025137.4(SPG11):c.5870C>G (p.Ser1957Ter)
|
rs312262772
|
|
|
NM_025137.4(SPG11):c.5876dup (p.Asp1960fs)
|
|
|
|
NM_025137.4(SPG11):c.5878G>A (p.Asp1960Asn)
|
rs761271386
|
|
|
NM_025137.4(SPG11):c.5880_5881dup (p.Ser1961fs)
|
|
|
|
NM_025137.4(SPG11):c.5881A>G (p.Ser1961Gly)
|
|
|
|
NM_025137.4(SPG11):c.5895G>A (p.Val1965=)
|
|
|
|
NM_025137.4(SPG11):c.5898A>C (p.Thr1966=)
|
|
|
|
NM_025137.4(SPG11):c.5898A>G (p.Thr1966=)
|
rs1464906163
|
|
|
NM_025137.4(SPG11):c.5900_5901dup (p.Pro1968fs)
|
rs2140931516
|
|
|
NM_025137.4(SPG11):c.5901G>T (p.Val1967=)
|
|
|
|
NM_025137.4(SPG11):c.5911A>G (p.Asn1971Asp)
|
|
|
|
NM_025137.4(SPG11):c.5913T>C (p.Asn1971=)
|
|
|
|
NM_025137.4(SPG11):c.5918T>C (p.Val1973Ala)
|
rs2082504085
|
|
|
NM_025137.4(SPG11):c.591A>G (p.Ala197=)
|
|
|
|
NM_025137.4(SPG11):c.592C>T (p.Gln198Ter)
|
rs863225440
|
|
|
NM_025137.4(SPG11):c.5946C>G (p.Ser1982Arg)
|
rs1567132752
|
|
|
NM_025137.4(SPG11):c.5948A>G (p.Lys1983Arg)
|
|
|
|
NM_025137.4(SPG11):c.5948A>T (p.Lys1983Ile)
|
|
|
|
NM_025137.4(SPG11):c.5949A>G (p.Lys1983=)
|
|
|
|
NM_025137.4(SPG11):c.5955C>A (p.Leu1985=)
|
|
|
|
NM_025137.4(SPG11):c.5959G>C (p.Gly1987Arg)
|
rs2140931439
|
|
|
NM_025137.4(SPG11):c.5960G>C (p.Gly1987Ala)
|
rs370519546
|
|
|
NM_025137.4(SPG11):c.5966ACT[1] (p.Tyr1990del)
|
rs2140931403
|
|
|
NM_025137.4(SPG11):c.5970C>G (p.Tyr1990Ter)
|
rs312262773
|
|
|
NM_025137.4(SPG11):c.5972del (p.Cys1991fs)
|
rs2082503070
|
|
|
NM_025137.4(SPG11):c.5977C>T (p.Gln1993Ter)
|
rs312262774
|
|
|
NM_025137.4(SPG11):c.597A>G (p.Ala199=)
|
|
|
|
NM_025137.4(SPG11):c.5980G>T (p.Val1994Phe)
|
|
|
|
NM_025137.4(SPG11):c.5982C>T (p.Val1994=)
|
|
|
|
NM_025137.4(SPG11):c.5985_5986del (p.Cys1996fs)
|
rs1555447724
|
|
|
NM_025137.4(SPG11):c.5989_5992del (p.Leu1997fs)
|
rs312262776
|
|
|
NM_025137.4(SPG11):c.5990T>A (p.Leu1997Gln)
|
rs879367729
|
|
|
NM_025137.4(SPG11):c.5992_5995del (p.Tyr1998fs)
|
|
|
|
NM_025137.4(SPG11):c.5992dup (p.Tyr1998fs)
|
rs312262777
|
|
|
NM_025137.4(SPG11):c.59C>A (p.Ala20Glu)
|
|
|
|
NM_025137.4(SPG11):c.59C>T (p.Ala20Val)
|
rs1453437368
|
|
|
NM_025137.4(SPG11):c.6003C>G (p.Ala2001=)
|
|
|
|
NM_025137.4(SPG11):c.6006+10A>C
|
rs2140931300
|
|
|
NM_025137.4(SPG11):c.6006+12G>C
|
|
|
|
NM_025137.4(SPG11):c.6006+15dup
|
rs758198610
|
|
|
NM_025137.4(SPG11):c.6006+17G>A
|
|
|
|
NM_025137.4(SPG11):c.6006+19G>A
|
|
|
|
NM_025137.4(SPG11):c.6006+1_6006+5del
|
|
|
|
NM_025137.4(SPG11):c.6006+4T>C
|
rs2140931302
|
|
|
NM_025137.4(SPG11):c.6006+8C>T
|
|
|
|
NM_025137.4(SPG11):c.6007-13G>A
|
|
|
|
NM_025137.4(SPG11):c.6007-13G>C
|
rs914339608
|
|
|
NM_025137.4(SPG11):c.6007-18G>A
|
|
|
|
NM_025137.4(SPG11):c.6007-18G>C
|
|
|
|
NM_025137.4(SPG11):c.6007-3C>G
|
rs1410926036
|
|
|
NM_025137.4(SPG11):c.6007-6T>C
|
rs886051180
|
|
|
NM_025137.4(SPG11):c.6007-8C>T
|
|
|
|
NM_025137.4(SPG11):c.6010T>C (p.Leu2004=)
|
rs200220848
|
|
|
NM_025137.4(SPG11):c.6012G>A (p.Leu2004=)
|
rs2140929232
|
|
|
NM_025137.4(SPG11):c.6014G>C (p.Gly2005Ala)
|
rs2140929215
|
|
|
NM_025137.4(SPG11):c.6016T>G (p.Cys2006Gly)
|
rs2082475892
|
|
|
NM_025137.4(SPG11):c.6018T>C (p.Cys2006=)
|
|
|
|
NM_025137.4(SPG11):c.6021del (p.Tyr2008fs)
|
rs886051179
|
|
|
NM_025137.4(SPG11):c.6038C>T (p.Ala2013Val)
|
rs745997529
|
|
|
NM_025137.4(SPG11):c.6039T>C (p.Ala2013=)
|
|
|
|
NM_025137.4(SPG11):c.6045T>C (p.Asp2015=)
|
rs749530648
|
|
|
NM_025137.4(SPG11):c.6048T>C (p.Gly2016=)
|
|
|
|
NM_025137.4(SPG11):c.6056T>C (p.Met2019Thr)
|
rs1268897921
|
|
|
NM_025137.4(SPG11):c.6067dup (p.Ile2023fs)
|
|
|
|
NM_025137.4(SPG11):c.6069C>T (p.Ile2023=)
|
rs753141662
|
|
|
NM_025137.4(SPG11):c.606G>C (p.Met202Ile)
|
rs1555383185
|
|
|
NM_025137.4(SPG11):c.6070T>C (p.Leu2024=)
|
|
|
|
NM_025137.4(SPG11):c.6075C>A (p.Ala2025=)
|
|
|
|
NM_025137.4(SPG11):c.6075C>G (p.Ala2025=)
|
rs1430809185
|
|
|
NM_025137.4(SPG11):c.6078T>G (p.Ser2026=)
|
|
|
|
NM_025137.4(SPG11):c.6090C>T (p.Asp2030=)
|
|
|
|
NM_025137.4(SPG11):c.6091C>T (p.Arg2031Ter)
|
rs147713329
|
|
|
NM_025137.4(SPG11):c.6092G>C (p.Arg2031Pro)
|
rs1365555358
|
|
|
NM_025137.4(SPG11):c.6098A>G (p.Lys2033Arg)
|
|
|
|
NM_025137.4(SPG11):c.609T>C (p.Ile203=)
|
|
|
|
NM_025137.4(SPG11):c.60G>A (p.Ala20=)
|
rs544136842
|
|
|
NM_025137.4(SPG11):c.60G>C (p.Ala20=)
|
rs544136842
|
|
|
NM_025137.4(SPG11):c.6100C>G (p.Arg2034Gly)
|
rs118203963
|
|
|
NM_025137.4(SPG11):c.6105C>T (p.Ala2035=)
|
rs1595828430
|
|
|
NM_025137.4(SPG11):c.6111C>G (p.Ala2037=)
|
|
|
|
NM_025137.4(SPG11):c.6114C>T (p.Phe2038=)
|
|
|
|
NM_025137.4(SPG11):c.6120C>T (p.Ser2040=)
|
|
|
|
NM_025137.4(SPG11):c.6121A>G (p.Thr2041Ala)
|
|
|
|
NM_025137.4(SPG11):c.6122C>T (p.Thr2041Ile)
|
|
|
|
NM_025137.4(SPG11):c.6123dup (p.Gln2042fs)
|
rs2140928964
|
|
|
NM_025137.4(SPG11):c.6124_6125del (p.Gln2042fs)
|
|
|
|
NM_025137.4(SPG11):c.6130C>A (p.Leu2044Ile)
|
rs886051178
|
|
|
NM_025137.4(SPG11):c.6134_6135dup (p.Pro2046fs)
|
rs2140928925
|
|
|
NM_025137.4(SPG11):c.6142A>G (p.Thr2048Ala)
|
rs2082471967
|
|
|
NM_025137.4(SPG11):c.6150T>C (p.Ala2050=)
|
rs2140928897
|
|
|
NM_025137.4(SPG11):c.6151G>T (p.Glu2051Ter)
|
rs771057519
|
|
|
NM_025137.4(SPG11):c.6157G>C (p.Val2053Leu)
|
|
|
|
NM_025137.4(SPG11):c.6158T>G (p.Val2053Gly)
|
rs2140928866
|
|
|
NM_025137.4(SPG11):c.6158_6163del (p.Val2053_Ala2054del)
|
|
|
|
NM_025137.4(SPG11):c.6159G>A (p.Val2053=)
|
|
|
|
NM_025137.4(SPG11):c.6174A>G (p.Thr2058=)
|
|
|
|
NM_025137.4(SPG11):c.6174dup (p.Arg2059fs)
|
|
|
|
NM_025137.4(SPG11):c.6175C>A (p.Arg2059=)
|
|
|
|
NM_025137.4(SPG11):c.6175C>G (p.Arg2059Gly)
|
rs755438310
|
|
|
NM_025137.4(SPG11):c.6176G>T (p.Arg2059Leu)
|
rs757619567
|
|
|
NM_025137.4(SPG11):c.6187A>G (p.Thr2063Ala)
|
|
|
|
NM_025137.4(SPG11):c.6187_6188del (p.Thr2063fs)
|
|
|
|
NM_025137.4(SPG11):c.618G>A (p.Thr206=)
|
|
|
|
NM_025137.4(SPG11):c.6194C>A (p.Ser2065Ter)
|
|
|
|
NM_025137.4(SPG11):c.6198G>A (p.Gln2066=)
|
|
|
|
NM_025137.4(SPG11):c.6200G>A (p.Gly2067Glu)
|
rs1339436003
|
|
|
NM_025137.4(SPG11):c.6200del (p.Gly2067fs)
|
|
|
|
NM_025137.4(SPG11):c.6201A>T (p.Gly2067=)
|
rs764991726
|
|
|
NM_025137.4(SPG11):c.6203dup (p.Gly2069fs)
|
|
|
|
NM_025137.4(SPG11):c.6204A>G (p.Thr2068=)
|
|
|
|
NM_025137.4(SPG11):c.6205+10C>A
|
rs548551204
|
|
|
NM_025137.4(SPG11):c.6205+10C>G
|
rs548551204
|
|
|
NM_025137.4(SPG11):c.6205+13C>T
|
|
|
|
NM_025137.4(SPG11):c.6205+14C>G
|
|
|
|
NM_025137.4(SPG11):c.6205+14del
|
|
|
|
NM_025137.4(SPG11):c.6205+15G>A
|
|
|
|
NM_025137.4(SPG11):c.6205+15G>C
|
|
|
|
NM_025137.4(SPG11):c.6205+18G>A
|
rs770008849
|
|
|
NM_025137.4(SPG11):c.6205+18G>C
|
|
|
|
NM_025137.4(SPG11):c.6205+6C>T
|
rs1595828225
|
|
|
NM_025137.4(SPG11):c.6205+7T>C
|
rs1555447556
|
|
|
NM_025137.4(SPG11):c.6205+8A>C
|
rs763990388
|
|
|
NM_025137.4(SPG11):c.6205+9C>A
|
|
|
|
NM_025137.4(SPG11):c.6205+9C>T
|
|
|
|
NM_025137.4(SPG11):c.6205+9dup
|
rs775165218
|
|
|
NM_025137.4(SPG11):c.6206-12C>G
|
|
|
|
NM_025137.4(SPG11):c.6206-13_6206-12insGTG
|
|
|
|
NM_025137.4(SPG11):c.6206-15C>T
|
|
|
|
NM_025137.4(SPG11):c.6206-1G>C
|
rs312262778
|
|
|
NM_025137.4(SPG11):c.6206-20C>A
|
|
|
|
NM_025137.4(SPG11):c.6206-2A>G
|
|
|
|
NM_025137.4(SPG11):c.6206-4A>T
|
rs1444531163
|
|
|
NM_025137.4(SPG11):c.6206-6G>C
|
|
|
|
NM_025137.4(SPG11):c.6206-6G>T
|
rs1298829081
|
|
|
NM_025137.4(SPG11):c.6219G>A (p.Met2073Ile)
|
rs778428857
|
|
|
NM_025137.4(SPG11):c.6223_6224insGAA (p.Phe2074_Asn2075insArg)
|
rs773225085
|
|
|
NM_025137.4(SPG11):c.6224A>C (p.Asn2075Thr)
|
rs140824939
|
|
|
NM_025137.4(SPG11):c.6225C>T (p.Asn2075=)
|
|
|
|
NM_025137.4(SPG11):c.6226_6230del (p.Pro2076fs)
|
|
|
|
NM_025137.4(SPG11):c.622C>T (p.Leu208Phe)
|
|
|
|
NM_025137.4(SPG11):c.6230_6231del (p.Thr2077fs)
|
rs1555447459
|
|
|
NM_025137.4(SPG11):c.6231A>C (p.Thr2077=)
|
rs2082450015
|
|
|
NM_025137.4(SPG11):c.6233A>C (p.Glu2078Ala)
|
rs1302238562
|
|
|
NM_025137.4(SPG11):c.6246A>G (p.Thr2082=)
|
|
|
|
NM_025137.4(SPG11):c.6253C>T (p.Gln2085Ter)
|
|
|
|
NM_025137.4(SPG11):c.6256C>T (p.Leu2086=)
|
|
|
|
NM_025137.4(SPG11):c.6261del (p.Thr2088fs)
|
rs2140927039
|
|
|
NM_025137.4(SPG11):c.6263C>T (p.Thr2088Ile)
|
rs1283621415
|
|
|
NM_025137.4(SPG11):c.6264T>G (p.Thr2088=)
|
|
|
|
NM_025137.4(SPG11):c.6266dup (p.Cys2090fs)
|
|
|
|
NM_025137.4(SPG11):c.6269_6270del (p.Cys2090fs)
|
rs749705821
|
|
|
NM_025137.4(SPG11):c.6271C>T (p.Gln2091Ter)
|
|
|
|
NM_025137.4(SPG11):c.6279C>G (p.Arg2093=)
|
|
|
|
NM_025137.4(SPG11):c.6281C>G (p.Thr2094Arg)
|
|
|
|
NM_025137.4(SPG11):c.6283T>C (p.Leu2095=)
|
rs2082448894
|
|
|
NM_025137.4(SPG11):c.6284T>A (p.Leu2095Ter)
|
|
|
|
NM_025137.4(SPG11):c.6285G>A (p.Leu2095=)
|
|
|
|
NM_025137.4(SPG11):c.6289G>A (p.Gly2097Ser)
|
|
|
|
NM_025137.4(SPG11):c.6291C>T (p.Gly2097=)
|
|
|
|
NM_025137.4(SPG11):c.6293T>C (p.Met2098Thr)
|
rs2082448645
|
|
|
NM_025137.4(SPG11):c.6299T>C (p.Leu2100Ser)
|
|
|
|
NM_025137.4(SPG11):c.62C>G (p.Ala21Gly)
|
rs1178130732
|
|
|
NM_025137.4(SPG11):c.6301T>G (p.Leu2101Val)
|
|
|
|
NM_025137.4(SPG11):c.6305A>G (p.Asp2102Gly)
|
|
|
|
NM_025137.4(SPG11):c.6305A>T (p.Asp2102Val)
|
rs531345715
|
|
|
NM_025137.4(SPG11):c.6306T>C (p.Asp2102=)
|
|
|
|
NM_025137.4(SPG11):c.6306_6307insC (p.Lys2103fs)
|
|
|
|
NM_025137.4(SPG11):c.6308A>G (p.Lys2103Arg)
|
rs1555447440
|
|
|
NM_025137.4(SPG11):c.6317_6335del (p.Ser2106fs)
|
rs1439018038
|
|
|
NM_025137.4(SPG11):c.6318C>T (p.Ser2106=)
|
|
|
|
NM_025137.4(SPG11):c.6326_6327insCTTTTACACTGTTGGTGGGACTGTAAACTAGTTCAACCATTGTGGAAGTCAGTGTGGCGATTCCTCAGGGATCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAGATTTCCTCCGTTCCCCA (p.His2109_Gly2110insPheTyrThrValGlyGlyThrValAsnTer)
|
|
|
|
NM_025137.4(SPG11):c.6327T>A (p.His2109Gln)
|
rs754787719
|
|
|
NM_025137.4(SPG11):c.6327T>C (p.His2109=)
|
rs754787719
|
|
|
NM_025137.4(SPG11):c.6328G>A (p.Gly2110Arg)
|
|
|
|
NM_025137.4(SPG11):c.6331del (p.Glu2111fs)
|
rs2140926873
|
|
|
NM_025137.4(SPG11):c.6333A>G (p.Glu2111=)
|
|
|
|
NM_025137.4(SPG11):c.6334C>T (p.Leu2112=)
|
|
|
|
NM_025137.4(SPG11):c.6343+12A>T
|
|
|
|
NM_025137.4(SPG11):c.6343+14del
|
|
|
|
NM_025137.4(SPG11):c.6343+17T>C
|
|
|
|
NM_025137.4(SPG11):c.6343+19T>G
|
|
|
|
NM_025137.4(SPG11):c.6343+1G>T
|
rs1555447432
|
|
|
NM_025137.4(SPG11):c.6343+2T>C
|
|
|
|
NM_025137.4(SPG11):c.6343+5G>T
|
rs756302161
|
|
|
NM_025137.4(SPG11):c.6343+8A>T
|
|
|
|
NM_025137.4(SPG11):c.6343+9T>C
|
|
|
|
NM_025137.4(SPG11):c.6344-13C>A
|
|
|
|
NM_025137.4(SPG11):c.6344-16G>T
|
|
|
|
NM_025137.4(SPG11):c.6344-17A>G
|
|
|
|
NM_025137.4(SPG11):c.6344-18C>T
|
|
|
|
NM_025137.4(SPG11):c.6344-19C>T
|
|
|
|
NM_025137.4(SPG11):c.6344-20A>C
|
rs1595824228
|
|
|
NM_025137.4(SPG11):c.6344-24_6344-20del
|
|
|
|
NM_025137.4(SPG11):c.6344-9C>T
|
|
|
|
NM_025137.4(SPG11):c.6345C>A (p.Thr2115=)
|
|
|
|
NM_025137.4(SPG11):c.6345C>T (p.Thr2115=)
|
|
|
|
NM_025137.4(SPG11):c.6347C>G (p.Thr2116Arg)
|
rs751929116
|
|
|
NM_025137.4(SPG11):c.6347_6348del (p.Thr2116fs)
|
|
|
|
NM_025137.4(SPG11):c.6354C>A (p.Leu2118=)
|
|
|
|
NM_025137.4(SPG11):c.6354C>T (p.Leu2118=)
|
|
|
|
NM_025137.4(SPG11):c.6359T>C (p.Ile2120Thr)
|
rs1236437265
|
|
|
NM_025137.4(SPG11):c.6365_6387del (p.Ala2122fs)
|
rs2140923165
|
|
|
NM_025137.4(SPG11):c.6366C>G (p.Ala2122=)
|
|
|
|
NM_025137.4(SPG11):c.6367C>T (p.His2123Tyr)
|
rs1567129561
|
|
|
NM_025137.4(SPG11):c.6372T>C (p.His2124=)
|
rs1595824110
|
|
|
NM_025137.4(SPG11):c.6375C>T (p.Cys2125=)
|
rs1432114741
|
|
|
NM_025137.4(SPG11):c.637C>A (p.Leu213Ile)
|
|
|
|
NM_025137.4(SPG11):c.6382C>G (p.Leu2128Val)
|
rs1302560163
|
|
|
NM_025137.4(SPG11):c.6384G>C (p.Leu2128=)
|
|
|
|
NM_025137.4(SPG11):c.6387G>C (p.Thr2129=)
|
rs150121550
|
|
|
NM_025137.4(SPG11):c.6391C>A (p.His2131Asn)
|
rs775209503
|
|
|
NM_025137.4(SPG11):c.6391C>T (p.His2131Tyr)
|
|
|
|
NM_025137.4(SPG11):c.6401G>T (p.Gly2134Val)
|
|
|
|
NM_025137.4(SPG11):c.6406A>C (p.Ile2136Leu)
|
|
|
|
NM_025137.4(SPG11):c.6418C>T (p.Gln2140Ter)
|
rs1567129475
|
|
|
NM_025137.4(SPG11):c.641T>G (p.Phe214Cys)
|
rs2141126013
|
|
|
NM_025137.4(SPG11):c.6421G>A (p.Ala2141Thr)
|
|
|
|
NM_025137.4(SPG11):c.6423_6433dup (p.Leu2145fs)
|
|
|
|
NM_025137.4(SPG11):c.6424G>T (p.Ala2142Ser)
|
|
|
|
NM_025137.4(SPG11):c.6424dup (p.Ala2142fs)
|
|
|
|
NM_025137.4(SPG11):c.642del (p.Phe214fs)
|
rs312262717
|
|
|
NM_025137.4(SPG11):c.6437_6438del (p.Thr2146fs)
|
rs2082401685
|
|
|
NM_025137.4(SPG11):c.6438A>G (p.Thr2146=)
|
|
|
|
NM_025137.4(SPG11):c.6443A>C (p.Asn2148Thr)
|
|
|
|
NM_025137.4(SPG11):c.6448C>G (p.Leu2150Val)
|
rs1403957064
|
|
|
NM_025137.4(SPG11):c.6449_6455del (p.Leu2150fs)
|
rs1304713296
|
|
|
NM_025137.4(SPG11):c.6451del (p.Ala2151fs)
|
rs312262779
|
|
|
NM_025137.4(SPG11):c.6460G>A (p.Glu2154Lys)
|
|
|
|
NM_025137.4(SPG11):c.6460GAG[1] (p.Glu2155del)
|
|
|
|
NM_025137.4(SPG11):c.6461A>G (p.Glu2154Gly)
|
rs771827244
|
|
|
NM_025137.4(SPG11):c.6462G>A (p.Glu2154=)
|
|
|
|
NM_025137.4(SPG11):c.6467A>G (p.Tyr2156Cys)
|
|
|
|
NM_025137.4(SPG11):c.6477+12C>A
|
|
|
|
NM_025137.4(SPG11):c.6477+13del
|
rs574960359
|
|
|
NM_025137.4(SPG11):c.6477+19C>T
|
|
|
|
NM_025137.4(SPG11):c.6477+1G>C
|
|
|
|
NM_025137.4(SPG11):c.6477+4A>G
|
rs312262780
|
|
|
NM_025137.4(SPG11):c.6477+5G>A
|
|
|
|
NM_025137.4(SPG11):c.6477+5G>C
|
|
|
|
NM_025137.4(SPG11):c.6477+5G>T
|
rs2140922964
|
|
|
NM_025137.4(SPG11):c.6477+6T>G
|
|
|
|
NM_025137.4(SPG11):c.6477+6_6477+8del
|
rs748324376
|
|
|
NM_025137.4(SPG11):c.6477G>A (p.Val2159=)
|
|
|
|
NM_025137.4(SPG11):c.6478-10C>A
|
|
|
|
NM_025137.4(SPG11):c.6478-16T>A
|
rs2140921097
|
|
|
NM_025137.4(SPG11):c.6478-17G>A
|
|
|
|
NM_025137.4(SPG11):c.6478-2A>C
|
rs2082374687
|
|
|
NM_025137.4(SPG11):c.6478-2A>G
|
|
|
|
NM_025137.4(SPG11):c.6478-7T>G
|
|
|
|
NM_025137.4(SPG11):c.6478-9A>G
|
|
|
|
NM_025137.4(SPG11):c.6480A>T (p.Val2160=)
|
|
|
|
NM_025137.4(SPG11):c.6482G>A (p.Arg2161Gln)
|
|
|
|
NM_025137.4(SPG11):c.6483G>A (p.Arg2161=)
|
|
|
|
NM_025137.4(SPG11):c.6483G>C (p.Arg2161=)
|
|
|
|
NM_025137.4(SPG11):c.6484C>A (p.Leu2162Ile)
|
rs770769595
|
|
|
NM_025137.4(SPG11):c.6491C>T (p.Thr2164Ile)
|
rs1362623682
|
|
|
NM_025137.4(SPG11):c.6493G>A (p.Gly2165Ser)
|
|
|
|
NM_025137.4(SPG11):c.6495C>T (p.Gly2165=)
|
|
|
|
NM_025137.4(SPG11):c.6498T>C (p.Ile2166=)
|
|
|
|
NM_025137.4(SPG11):c.6500del (p.Gly2167fs)
|
rs2140921013
|
|
|
NM_025137.4(SPG11):c.6507C>A (p.Tyr2169Ter)
|
|
|
|
NM_025137.4(SPG11):c.6507C>T (p.Tyr2169=)
|
rs1476614745
|
|
|
NM_025137.4(SPG11):c.6508_6510del (p.Asn2170del)
|
rs757237014
|
|
|
NM_025137.4(SPG11):c.6510C>G (p.Asn2170Lys)
|
|
|
|
NM_025137.4(SPG11):c.6510C>T (p.Asn2170=)
|
|
|
|
NM_025137.4(SPG11):c.6523A>C (p.Ile2175Leu)
|
rs1567128530
|
|
|
NM_025137.4(SPG11):c.6523del (p.Ile2175fs)
|
|
|
|
NM_025137.4(SPG11):c.6530_6534del (p.Asp2177fs)
|
|
|
|
NM_025137.4(SPG11):c.6540del (p.His2180fs)
|
rs2140920898
|
|
|
NM_025137.4(SPG11):c.6548ACT[1] (p.Tyr2184del)
|
|
|
|
NM_025137.4(SPG11):c.6549C>T (p.His2183=)
|
|
|
|
NM_025137.4(SPG11):c.654_655delinsG (p.Ser218fs)
|
rs312262718
|
|
|
NM_025137.4(SPG11):c.6552C>T (p.Tyr2184=)
|
|
|
|
NM_025137.4(SPG11):c.6554T>C (p.Phe2185Ser)
|
rs2140920863
|
|
|
NM_025137.4(SPG11):c.6555T>A (p.Phe2185Leu)
|
rs2140920859
|
|
|
NM_025137.4(SPG11):c.6558A>G (p.Glu2186=)
|
|
|
|
NM_025137.4(SPG11):c.6568A>C (p.Arg2190=)
|
rs1383809148
|
|
|
NM_025137.4(SPG11):c.6585+15A>G
|
|
|
|
NM_025137.4(SPG11):c.6585+15dup
|
|
|
|
NM_025137.4(SPG11):c.6585+2T>G
|
rs2140920796
|
|
|
NM_025137.4(SPG11):c.6585+9A>C
|
|
|
|
NM_025137.4(SPG11):c.6586-16C>T
|
|
|
|
NM_025137.4(SPG11):c.6586-16del
|
|
|
|
NM_025137.4(SPG11):c.6586-19del
|
|
|
|
NM_025137.4(SPG11):c.6586-1G>A
|
rs1060501174
|
|
|
NM_025137.4(SPG11):c.6586-1G>T
|
rs1060501174
|
|
|
NM_025137.4(SPG11):c.6586-20T>C
|
|
|
|
NM_025137.4(SPG11):c.6586-7T>C
|
rs1057524222
|
|
|
NM_025137.4(SPG11):c.6590G>A (p.Gly2197Asp)
|
rs756548501
|
|
|
NM_025137.4(SPG11):c.6590G>C (p.Gly2197Ala)
|
|
|
|
NM_025137.4(SPG11):c.6594C>G (p.Thr2198=)
|
|
|
|
NM_025137.4(SPG11):c.6595del (p.Thr2198_Leu2199insTer)
|
|
|
|
NM_025137.4(SPG11):c.6596T>C (p.Leu2199Pro)
|
|
|
|
NM_025137.4(SPG11):c.65T>C (p.Met22Thr)
|
rs779434840
|
|
|
NM_025137.4(SPG11):c.6602C>T (p.Thr2201Ile)
|
rs2140917223
|
|
|
NM_025137.4(SPG11):c.6607C>G (p.Leu2203Val)
|
|
|
|
NM_025137.4(SPG11):c.6607C>T (p.Leu2203=)
|
|
|
|
NM_025137.4(SPG11):c.6610C>A (p.Leu2204Met)
|
|
|
|
NM_025137.4(SPG11):c.6615C>T (p.Asp2205=)
|
|
|
|
NM_025137.4(SPG11):c.6621C>A (p.Ile2207=)
|
|
|
|
NM_025137.4(SPG11):c.6631C>A (p.Arg2211Ser)
|
rs148260507
|
|
|
NM_025137.4(SPG11):c.6632G>T (p.Arg2211Leu)
|
|
|
|
NM_025137.4(SPG11):c.6632dup (p.Pro2212fs)
|
rs863225439
|
|
|
NM_025137.4(SPG11):c.6639A>G (p.Gly2213=)
|
|
|
|
NM_025137.4(SPG11):c.6656A>G (p.Asn2219Ser)
|
|
|
|
NM_025137.4(SPG11):c.6656A>T (p.Asn2219Ile)
|
|
|
|
NM_025137.4(SPG11):c.6657T>C (p.Asn2219=)
|
rs2140917127
|
|
|
NM_025137.4(SPG11):c.6658_6659del (p.Met2220fs)
|
|
|
|
NM_025137.4(SPG11):c.6667C>A (p.Leu2223Met)
|
rs2140917102
|
|
|
NM_025137.4(SPG11):c.667+12G>A
|
|
|
|
NM_025137.4(SPG11):c.667+12_667+14del
|
|
|
|
NM_025137.4(SPG11):c.667+13G>T
|
|
|
|
NM_025137.4(SPG11):c.667+18A>G
|
|
|
|
NM_025137.4(SPG11):c.667+18A>T
|
|
|
|
NM_025137.4(SPG11):c.667+19G>A
|
|
|
|
NM_025137.4(SPG11):c.667+1G>A
|
|
|
|
NM_025137.4(SPG11):c.6677G>T (p.Ser2226Ile)
|
rs2082334964
|
|
|
NM_025137.4(SPG11):c.668-10T>C
|
|
|
|
NM_025137.4(SPG11):c.668-10_668-9insTTA
|
rs1595935403
|
|
|
NM_025137.4(SPG11):c.668-11C>T
|
|
|
|
NM_025137.4(SPG11):c.668-13C>T
|
|
|
|
NM_025137.4(SPG11):c.668-14del
|
|
|
|
NM_025137.4(SPG11):c.668-1G>A
|
|
|
|
NM_025137.4(SPG11):c.668-1G>T
|
rs2141121333
|
|
|
NM_025137.4(SPG11):c.668-28G>A
|
rs749231608
|
|
|
NM_025137.4(SPG11):c.668-6T>G
|
|
|
|
NM_025137.4(SPG11):c.668-7_668-4del
|
rs1272830874
|
|
|
NM_025137.4(SPG11):c.6681G>A (p.Met2227Ile)
|
|
|
|
NM_025137.4(SPG11):c.6684C>T (p.Cys2228=)
|
|
|
|
NM_025137.4(SPG11):c.6685C>A (p.Arg2229=)
|
rs751245734
|
|
|
NM_025137.4(SPG11):c.6690G>A (p.Glu2230=)
|
rs768025841
|
|
|
NM_025137.4(SPG11):c.6692T>C (p.Ile2231Thr)
|
rs1363230897
|
|
|
NM_025137.4(SPG11):c.669C>T (p.Tyr223=)
|
|
|
|
NM_025137.4(SPG11):c.6705C>T (p.His2235=)
|
|
|
|
NM_025137.4(SPG11):c.6706G>C (p.Glu2236Gln)
|
|
|
|
NM_025137.4(SPG11):c.6709G>A (p.Ala2237Thr)
|
|
|
|
NM_025137.4(SPG11):c.670A>G (p.Ile224Val)
|
rs2084969218
|
|
|
NM_025137.4(SPG11):c.6725A>C (p.Gln2242Pro)
|
rs2140916949
|
|
|
NM_025137.4(SPG11):c.6735G>A (p.Leu2245=)
|
rs1555446716
|
|
|
NM_025137.4(SPG11):c.6737_6740del (p.Ile2246fs)
|
rs312262781
|
|
|
NM_025137.4(SPG11):c.6738del (p.Ile2246fs)
|
rs1555446712
|
|
|
NM_025137.4(SPG11):c.6738dup (p.Glu2247Ter)
|
|
|
|
NM_025137.4(SPG11):c.6739_6742del (p.Glu2247fs)
|
rs312262782
|
|
|
NM_025137.4(SPG11):c.6743C>G (p.Ser2248Cys)
|
rs1567127087
|
|
|
NM_025137.4(SPG11):c.6750C>G (p.Pro2250=)
|
|
|
|
NM_025137.4(SPG11):c.6751T>C (p.Trp2251Arg)
|
|
|
|
NM_025137.4(SPG11):c.6753G>A (p.Trp2251Ter)
|
rs2082333064
|
|
|
NM_025137.4(SPG11):c.6754+14C>G
|
|
|
|
NM_025137.4(SPG11):c.6754+17C>A
|
|
|
|
NM_025137.4(SPG11):c.6754+2_6754+3dup
|
rs759090170
|
|
|
NM_025137.4(SPG11):c.6754+3_6754+4delinsAG
|
rs2140916862
|
|
|
NM_025137.4(SPG11):c.6754G>A (p.Glu2252Lys)
|
rs2140916872
|
|
|
NM_025137.4(SPG11):c.6755-12T>C
|
|
|
|
NM_025137.4(SPG11):c.6755-13_6755-12del
|
|
|
|
NM_025137.4(SPG11):c.6755-16_6755-14del
|
|
|
|
NM_025137.4(SPG11):c.6755-17_6755-14del
|
|
|
|
NM_025137.4(SPG11):c.6755-17_6755-15del
|
rs143026515
|
|
|
NM_025137.4(SPG11):c.6755-19T>A
|
|
|
|
NM_025137.4(SPG11):c.6755-1G>A
|
|
|
|
NM_025137.4(SPG11):c.6755-3C>G
|
rs1177654504
|
|
|
NM_025137.4(SPG11):c.6755-6C>G
|
rs2140914474
|
|
|
NM_025137.4(SPG11):c.6755-7C>T
|
rs1459468329
|
|
|
NM_025137.4(SPG11):c.6755-8C>T
|
|
|
|
NM_025137.4(SPG11):c.6758A>G (p.Asp2253Gly)
|
rs761230564
|
|
|
NM_025137.4(SPG11):c.6768G>A (p.Lys2256=)
|
|
|
|
NM_025137.4(SPG11):c.676G>C (p.Asp226His)
|
rs971078676
|
|
|
NM_025137.4(SPG11):c.676G>T (p.Asp226Tyr)
|
|
|
|
NM_025137.4(SPG11):c.6773_6783del (p.Gly2258fs)
|
|
|
|
NM_025137.4(SPG11):c.6774G>A (p.Gly2258=)
|
|
|
|
NM_025137.4(SPG11):c.6774G>C (p.Gly2258=)
|
|
|
|
NM_025137.4(SPG11):c.6775C>G (p.His2259Asp)
|
rs2082307117
|
|
|
NM_025137.4(SPG11):c.6778C>T (p.Gln2260Ter)
|
rs2140914403
|
|
|
NM_025137.4(SPG11):c.6780G>A (p.Gln2260=)
|
rs770643416
|
|
|
NM_025137.4(SPG11):c.6780G>C (p.Gln2260His)
|
rs770643416
|
|
|
NM_025137.4(SPG11):c.6783G>C (p.Leu2261=)
|
|
|
|
NM_025137.4(SPG11):c.6784A>G (p.Lys2262Glu)
|
rs2140914382
|
|
|
NM_025137.4(SPG11):c.6787C>T (p.Gln2263Ter)
|
|
|
|
NM_025137.4(SPG11):c.6788_6789delinsTG (p.Gln2263Leu)
|
|
|
|
NM_025137.4(SPG11):c.6789A>G (p.Gln2263=)
|
|
|
|
NM_025137.4(SPG11):c.6790C>T (p.Leu2264=)
|
|
|
|
NM_025137.4(SPG11):c.6790dup (p.Leu2264fs)
|
rs312262783
|
|
|
NM_025137.4(SPG11):c.6798G>A (p.Leu2266=)
|
rs1414442001
|
|
|
NM_025137.4(SPG11):c.6803C>T (p.Ala2268Val)
|
rs2082306504
|
|
|
NM_025137.4(SPG11):c.6807G>T (p.Leu2269=)
|
|
|
|
NM_025137.4(SPG11):c.6811_6812del (p.Leu2271fs)
|
rs1268815918
|
|
|
NM_025137.4(SPG11):c.6813G>C (p.Leu2271=)
|
|
|
|
NM_025137.4(SPG11):c.6826_6843+8del
|
rs1595817498
|
|
|
NM_025137.4(SPG11):c.6831del (p.Ser2278fs)
|
|
|
|
NM_025137.4(SPG11):c.6832_6833del (p.Ser2278fs)
|
rs312262784
|
|
|
NM_025137.4(SPG11):c.6837T>C (p.Tyr2279=)
|
|
|
|
NM_025137.4(SPG11):c.6840C>G (p.Ala2280=)
|
rs760995829
|
|
|
NM_025137.4(SPG11):c.6843+18T>C
|
|
|
|
NM_025137.4(SPG11):c.6843+2_6843+7dup
|
|
|
|
NM_025137.4(SPG11):c.6844-10T>C
|
|
|
|
NM_025137.4(SPG11):c.6844-12C>G
|
|
|
|
NM_025137.4(SPG11):c.6844-13C>T
|
|
|
|
NM_025137.4(SPG11):c.6844-14C>T
|
|
|
|
NM_025137.4(SPG11):c.6844-15A>G
|
|
|
|
NM_025137.4(SPG11):c.6844-19C>A
|
rs539232104
|
|
|
NM_025137.4(SPG11):c.6844-19del
|
|
|
|
NM_025137.4(SPG11):c.6844-2A>G
|
rs2140913822
|
|
|
NM_025137.4(SPG11):c.6844-5del
|
|
|
|
NM_025137.4(SPG11):c.6844-9G>T
|
|
|
|
NM_025137.4(SPG11):c.6844G>A (p.Asp2282Asn)
|
|
|
|
NM_025137.4(SPG11):c.6849C>T (p.Ser2283=)
|
rs566330854
|
|
|
NM_025137.4(SPG11):c.6855G>A (p.Val2285=)
|
|
|
|
NM_025137.4(SPG11):c.6857G>C (p.Arg2286Pro)
|
|
|
|
NM_025137.4(SPG11):c.6859C>T (p.Gln2287Ter)
|
|
|
|
NM_025137.4(SPG11):c.6861G>A (p.Gln2287=)
|
|
|
|
NM_025137.4(SPG11):c.6867G>C (p.Gln2289His)
|
rs762598343
|
|
|
NM_025137.4(SPG11):c.6867G>T (p.Gln2289His)
|
|
|
|
NM_025137.4(SPG11):c.6871dup (p.Cys2291fs)
|
|
|
|
NM_025137.4(SPG11):c.6876G>A (p.Gln2292=)
|
|
|
|
NM_025137.4(SPG11):c.6879G>A (p.Arg2293=)
|
|
|
|
NM_025137.4(SPG11):c.6879G>C (p.Arg2293=)
|
|
|
|
NM_025137.4(SPG11):c.6882C>T (p.Leu2294=)
|
|
|
|
NM_025137.4(SPG11):c.6884_6886del (p.Thr2295del)
|
rs1060501169
|
|
|
NM_025137.4(SPG11):c.6887A>C (p.Lys2296Thr)
|
rs889145962
|
|
|
NM_025137.4(SPG11):c.6889T>C (p.Leu2297=)
|
|
|
|
NM_025137.4(SPG11):c.6891G>A (p.Leu2297=)
|
rs2140913726
|
|
|
NM_025137.4(SPG11):c.6896C>A (p.Thr2299Asn)
|
rs780006264
|
|
|
NM_025137.4(SPG11):c.6896C>T (p.Thr2299Ile)
|
|
|
|
NM_025137.4(SPG11):c.6898_6899del (p.Leu2300fs)
|
rs312262786
|
|
|
NM_025137.4(SPG11):c.6899T>G (p.Leu2300Arg)
|
rs371334506
|
|
|
NM_025137.4(SPG11):c.6906T>A (p.Ile2302=)
|
|
|
|
NM_025137.4(SPG11):c.6907C>T (p.His2303Tyr)
|
rs777915558
|
|
|
NM_025137.4(SPG11):c.6912T>C (p.Phe2304=)
|
rs146914461
|
|
|
NM_025137.4(SPG11):c.6912T>G (p.Phe2304Leu)
|
rs146914461
|
|
|
NM_025137.4(SPG11):c.6915G>C (p.Leu2305=)
|
|
|
|
NM_025137.4(SPG11):c.6918C>T (p.Asn2306=)
|
|
|
|
NM_025137.4(SPG11):c.6921T>G (p.Thr2307=)
|
|
|
|
NM_025137.4(SPG11):c.6925C>T (p.Gln2309Ter)
|
rs1595817021
|
|
|
NM_025137.4(SPG11):c.6927G>C (p.Gln2309His)
|
rs1555446429
|
|
|
NM_025137.4(SPG11):c.6928A>C (p.Asn2310His)
|
rs2140913625
|
|
|
NM_025137.4(SPG11):c.6930C>T (p.Asn2310=)
|
|
|
|
NM_025137.4(SPG11):c.6933A>C (p.Thr2311=)
|
|
|
|
NM_025137.4(SPG11):c.6934A>G (p.Met2312Val)
|
rs892306308
|
|
|
NM_025137.4(SPG11):c.6936G>C (p.Met2312Ile)
|
|
|
|
NM_025137.4(SPG11):c.693A>G (p.Thr231=)
|
|
|
|
NM_025137.4(SPG11):c.6945C>G (p.Asn2315Lys)
|
rs1322340631
|
|
|
NM_025137.4(SPG11):c.6946T>C (p.Leu2316=)
|
|
|
|
NM_025137.4(SPG11):c.6954C>T (p.Arg2318=)
|
|
|
|
NM_025137.4(SPG11):c.6961C>T (p.Leu2321=)
|
|
|
|
NM_025137.4(SPG11):c.6965T>C (p.Met2322Thr)
|
rs2082297271
|
|
|
NM_025137.4(SPG11):c.6967dup (p.Asp2323fs)
|
|
|
|
NM_025137.4(SPG11):c.696T>A (p.Tyr232Ter)
|
|
|
|
NM_025137.4(SPG11):c.6971_6972del (p.Cys2324fs)
|
rs780301639
|
|
|
NM_025137.4(SPG11):c.6971_6972dup (p.Ile2325fs)
|
|
|
|
NM_025137.4(SPG11):c.6976C>G (p.Leu2326Val)
|
|
|
|
NM_025137.4(SPG11):c.6976C>T (p.Leu2326=)
|
rs1437826237
|
|
|
NM_025137.4(SPG11):c.6977T>C (p.Leu2326Pro)
|
rs2082296961
|
|
|
NM_025137.4(SPG11):c.6981C>T (p.Ala2327=)
|
|
|
|
NM_025137.4(SPG11):c.6984A>G (p.Leu2328=)
|
rs1314352745
|
|
|
NM_025137.4(SPG11):c.6985C>T (p.Pro2329Ser)
|
rs1399660300
|
|
|
NM_025137.4(SPG11):c.6987T>A (p.Pro2329=)
|
|
|
|
NM_025137.4(SPG11):c.6993C>T (p.Phe2331=)
|
|
|
|
NM_025137.4(SPG11):c.6999+13G>A
|
rs948770162
|
|
|
NM_025137.4(SPG11):c.6999+17A>T
|
|
|
|
NM_025137.4(SPG11):c.6999+19T>C
|
|
|
|
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.6999+3G>A
|
|
|
|
NM_025137.4(SPG11):c.6999+8A>C
|
|
|
|
NM_025137.4(SPG11):c.6999+8A>G
|
rs2140913450
|
|
|
NM_025137.4(SPG11):c.69G>T (p.Gly23=)
|
rs771750618
|
|
|
NM_025137.4(SPG11):c.69del (p.Arg24fs)
|
|
|
|
NM_025137.4(SPG11):c.7000-10T>G
|
rs1419777882
|
|
|
NM_025137.4(SPG11):c.7000-13C>T
|
|
|
|
NM_025137.4(SPG11):c.7000-15A>G
|
|
|
|
NM_025137.4(SPG11):c.7000-16C>T
|
|
|
|
NM_025137.4(SPG11):c.7000-18_7000-16del
|
rs777704346
|
|
|
NM_025137.4(SPG11):c.7000-1G>A
|
|
|
|
NM_025137.4(SPG11):c.7000-20_7000-17dup
|
|
|
|
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.7000-8C>G
|
rs886051177
|
|
|
NM_025137.4(SPG11):c.7000-8C>T
|
rs886051177
|
|
|
NM_025137.4(SPG11):c.7000-8_7000-4del
|
|
|
|
NM_025137.4(SPG11):c.7000-8del
|
|
|
|
NM_025137.4(SPG11):c.7000-9C>T
|
|
|
|
NM_025137.4(SPG11):c.7000-9_7000-7del
|
rs2140911633
|
|
|
NM_025137.4(SPG11):c.7000G>C (p.Ala2334Pro)
|
|
|
|
NM_025137.4(SPG11):c.7002T>C (p.Ala2334=)
|
rs1555446158
|
|
|
NM_025137.4(SPG11):c.7006A>C (p.Ile2336Leu)
|
|
|
|
NM_025137.4(SPG11):c.7006A>G (p.Ile2336Val)
|
|
|
|
NM_025137.4(SPG11):c.7014T>C (p.Ala2338=)
|
rs1366630590
|
|
|
NM_025137.4(SPG11):c.7015G>A (p.Glu2339Lys)
|
rs753466044
|
|
|
NM_025137.4(SPG11):c.7017G>A (p.Glu2339=)
|
|
|
|
NM_025137.4(SPG11):c.7018G>A (p.Ala2340Thr)
|
|
|
|
NM_025137.4(SPG11):c.7018G>T (p.Ala2340Ser)
|
rs1375685761
|
|
|
NM_025137.4(SPG11):c.7023C>A (p.Tyr2341Ter)
|
rs80338869
|
|
|
NM_025137.4(SPG11):c.7023C>G (p.Tyr2341Ter)
|
|
|
|
NM_025137.4(SPG11):c.7024G>A (p.Asp2342Asn)
|
rs529842519
|
|
|
NM_025137.4(SPG11):c.7024G>T (p.Asp2342Tyr)
|
rs529842519
|
|
|
NM_025137.4(SPG11):c.7029dup (p.Val2344fs)
|
rs312262788
|
|
|
NM_025137.4(SPG11):c.7033C>T (p.Pro2345Ser)
|
|
|
|
NM_025137.4(SPG11):c.7038T>C (p.Asp2346=)
|
|
|
|
NM_025137.4(SPG11):c.7040G>C (p.Trp2347Ser)
|
|
|
|
NM_025137.4(SPG11):c.7043del (p.Ala2348fs)
|
|
|
|
NM_025137.4(SPG11):c.7048A>G (p.Ile2350Val)
|
rs780550991
|
|
|
NM_025137.4(SPG11):c.704A>G (p.His235Arg)
|
|
|
|
NM_025137.4(SPG11):c.7051T>C (p.Leu2351=)
|
|
|
|
NM_025137.4(SPG11):c.7055_7058dup (p.Gln2354fs)
|
rs2140911440
|
|
|
NM_025137.4(SPG11):c.7056C>A (p.Tyr2352Ter)
|
rs746329317
|
|
|
NM_025137.4(SPG11):c.7056C>T (p.Tyr2352=)
|
|
|
|
NM_025137.4(SPG11):c.7063_7073dup (p.Lys2358_Gly2359insTer)
|
rs2082272406
|
|
|
NM_025137.4(SPG11):c.7065G>C (p.Val2355=)
|
|
|
|
NM_025137.4(SPG11):c.7067_7071dup (p.Lys2358fs)
|
|
|
|
NM_025137.4(SPG11):c.7068T>C (p.Ile2356=)
|
|
|
|
NM_025137.4(SPG11):c.7071T>C (p.Leu2357=)
|
|
|
|
NM_025137.4(SPG11):c.7079A>C (p.Asp2360Ala)
|
rs373463137
|
|
|
NM_025137.4(SPG11):c.7083del (p.Phe2361fs)
|
|
|
|
NM_025137.4(SPG11):c.7083dup (p.Asn2362Ter)
|
|
|
|
NM_025137.4(SPG11):c.7085_7088dup (p.Tyr2363Ter)
|
rs312262789
|
|
|
NM_025137.4(SPG11):c.7087_7115inv (p.Tyr2363_Leu2372delinsAsnLeuCysCysLeuAsnSerSerLysTer)
|
|
|
|
NM_025137.4(SPG11):c.7093_7094insCTT (p.Glu2365delinsAlaTer)
|
rs2140911376
|
|
|
NM_025137.4(SPG11):c.7096G>T (p.Glu2366Ter)
|
|
|
|
NM_025137.4(SPG11):c.7098A>G (p.Glu2366=)
|
|
|
|
NM_025137.4(SPG11):c.70C>A (p.Arg24=)
|
|
|
|
NM_025137.4(SPG11):c.70C>G (p.Arg24Gly)
|
|
|
|
NM_025137.4(SPG11):c.7101dup (p.Lys2368Ter)
|
rs312262790
|
|
|
NM_025137.4(SPG11):c.7105C>T (p.Gln2369Ter)
|
rs1397432412
|
|
|
NM_025137.4(SPG11):c.7111A>C (p.Arg2371=)
|
|
|
|
NM_025137.4(SPG11):c.7112G>A (p.Arg2371Lys)
|
rs1595815301
|
|
|
NM_025137.4(SPG11):c.7116A>G (p.Leu2372=)
|
rs1595815286
|
|
|
NM_025137.4(SPG11):c.7119A>G (p.Leu2373=)
|
|
|
|
NM_025137.4(SPG11):c.7142T>C (p.Ile2381Thr)
|
rs2082271089
|
|
|
NM_025137.4(SPG11):c.7145C>A (p.Ser2382Tyr)
|
rs1595815245
|
|
|
NM_025137.4(SPG11):c.7146C>A (p.Ser2382=)
|
|
|
|
NM_025137.4(SPG11):c.7148A>C (p.Lys2383Thr)
|
|
|
|
NM_025137.4(SPG11):c.7150A>T (p.Lys2384Ter)
|
rs1555446078
|
|
|
NM_025137.4(SPG11):c.7151+11A>C
|
rs779150349
|
|
|
NM_025137.4(SPG11):c.7151+11A>G
|
|
|
|
NM_025137.4(SPG11):c.7151+14G>A
|
|
|
|
NM_025137.4(SPG11):c.7151+14_7151+15insC
|
|
|
|
NM_025137.4(SPG11):c.7151+19C>G
|
|
|
|
NM_025137.4(SPG11):c.7151+4_7151+7del
|
rs312262791
|
|
|
NM_025137.4(SPG11):c.7151+6T>C
|
|
|
|
NM_025137.4(SPG11):c.7151+7A>T
|
|
|
|
NM_025137.4(SPG11):c.7151+8T>C
|
rs772301782
|
|
|
NM_025137.4(SPG11):c.7152-10C>T
|
|
|
|
NM_025137.4(SPG11):c.7152-16_7152-14dup
|
|
|
|
NM_025137.4(SPG11):c.7152-16_7152-15del
|
rs755786903
|
|
|
NM_025137.4(SPG11):c.7152-17T>G
|
|
|
|
NM_025137.4(SPG11):c.7152-19A>C
|
|
|
|
NM_025137.4(SPG11):c.7152-2A>G
|
|
|
|
NM_025137.4(SPG11):c.7152-6A>G
|
rs2082233766
|
|
|
NM_025137.4(SPG11):c.7152-9_7152-8insGTTTC
|
rs2140908346
|
|
|
NM_025137.4(SPG11):c.7153T>C (p.Tyr2385His)
|
rs1386550783
|
|
|
NM_025137.4(SPG11):c.7155T>A (p.Tyr2385Ter)
|
rs778305085
|
|
|
NM_025137.4(SPG11):c.7155T>G (p.Tyr2385Ter)
|
rs778305085
|
|
|
NM_025137.4(SPG11):c.7158ACA[1] (p.Gln2387del)
|
rs376599651
|
|
|
NM_025137.4(SPG11):c.7158_7159insACAA (p.Gln2387fs)
|
rs312262792
|
|
|
NM_025137.4(SPG11):c.7158_7161dup (p.His2388fs)
|
rs1567123492
|
|
|
NM_025137.4(SPG11):c.7159C>T (p.Gln2387Ter)
|
|
|
|
NM_025137.4(SPG11):c.7162C>A (p.His2388Asn)
|
rs1567123486
|
|
|
NM_025137.4(SPG11):c.7168C>T (p.Pro2390Ser)
|
|
|
|
NM_025137.4(SPG11):c.7169dup (p.Thr2391fs)
|
rs2140908233
|
|
|
NM_025137.4(SPG11):c.7187_7211dup (p.Tyr2404Ter)
|
rs1595812586
|
|
|
NM_025137.4(SPG11):c.71G>A (p.Arg24Gln)
|
rs1239788614
|
|
|
NM_025137.4(SPG11):c.7201_7218del (p.Leu2401_Glu2406del)
|
rs1490325672
|
|
|
NM_025137.4(SPG11):c.7203A>G (p.Leu2401=)
|
rs886051176
|
|
|
NM_025137.4(SPG11):c.7203dup (p.Leu2402fs)
|
|
|
|
NM_025137.4(SPG11):c.7205_7208del (p.Leu2402fs)
|
|
|
|
NM_025137.4(SPG11):c.7209A>G (p.Thr2403=)
|
|
|
|
NM_025137.4(SPG11):c.7221T>C (p.Asp2407=)
|
|
|
|
NM_025137.4(SPG11):c.7228C>T (p.Leu2410=)
|
|
|
|
NM_025137.4(SPG11):c.722A>T (p.His241Leu)
|
rs993836774
|
|
|
NM_025137.4(SPG11):c.7231T>A (p.Tyr2411Asn)
|
|
|
|
NM_025137.4(SPG11):c.7237A>G (p.Lys2413Glu)
|
|
|
|
NM_025137.4(SPG11):c.7240T>C (p.Leu2414=)
|
|
|
|
NM_025137.4(SPG11):c.7244C>A (p.Ala2415Glu)
|
rs1060501177
|
|
|
NM_025137.4(SPG11):c.7248C>T (p.Tyr2416=)
|
rs763259072
|
|
|
NM_025137.4(SPG11):c.7249G>T (p.Glu2417Ter)
|
rs371313584
|
|
|
NM_025137.4(SPG11):c.7249_7251delinsCTGTT (p.Glu2417fs)
|
rs864622190
|
|
|
NM_025137.4(SPG11):c.7253A>G (p.His2418Arg)
|
rs1555445707
|
|
|
NM_025137.4(SPG11):c.7254C>T (p.His2418=)
|
rs2082229551
|
|
|
NM_025137.4(SPG11):c.7255_7258dup (p.Phe2420Ter)
|
|
|
|
NM_025137.4(SPG11):c.7258T>C (p.Phe2420Leu)
|
rs779900397
|
|
|
NM_025137.4(SPG11):c.7266A>C (p.Glu2422Asp)
|
rs1229173974
|
|
|
NM_025137.4(SPG11):c.7266A>G (p.Glu2422=)
|
rs1229173974
|
|
|
NM_025137.4(SPG11):c.7268T>G (p.Ile2423Ser)
|
|
|
|
NM_025137.4(SPG11):c.726A>C (p.Lys242Asn)
|
rs1369058889
|
|
|
NM_025137.4(SPG11):c.7276G>A (p.Val2426Met)
|
rs1358019293
|
|
|
NM_025137.4(SPG11):c.727del (p.Glu243fs)
|
|
|
|
NM_025137.4(SPG11):c.7281T>G (p.Leu2427=)
|
|
|
|
NM_025137.4(SPG11):c.7284G>A (p.Leu2428=)
|
|
|
|
NM_025137.4(SPG11):c.7292dup (p.Gln2432fs)
|
rs2140907988
|
|
|
NM_025137.4(SPG11):c.72G>C (p.Arg24=)
|
|
|
|
NM_025137.4(SPG11):c.72G>T (p.Arg24=)
|
|
|
|
NM_025137.4(SPG11):c.7300G>A (p.Gly2434Ser)
|
rs2082228032
|
|
|
NM_025137.4(SPG11):c.7301G>C (p.Gly2434Ala)
|
rs755064786
|
|
|
NM_025137.4(SPG11):c.7302T>G (p.Gly2434=)
|
|
|
|
NM_025137.4(SPG11):c.7311A>G (p.Leu2437=)
|
|
|
|
NM_025137.4(SPG11):c.7313A>G (p.Lys2438Arg)
|
rs766552088
|
|
|
NM_025137.4(SPG11):c.7318A>C (p.Met2440Leu)
|
rs1595812352
|
|
|
NM_025137.4(SPG11):c.7321_7328del (p.Ala2442fs)
|
rs2140907903
|
|
|
NM_025137.4(SPG11):c.7323A>G (p.Leu2441=)
|
|
|
|
NM_025137.4(SPG11):c.7324G>A (p.Ala2442Thr)
|
rs765644977
|
|
|
NM_025137.4(SPG11):c.7324G>C (p.Ala2442Pro)
|
rs765644977
|
|
|
NM_025137.4(SPG11):c.7325C>T (p.Ala2442Val)
|
rs762374689
|
|
|
NM_025137.4(SPG11):c.733A>C (p.Met245Leu)
|
|
|
|
NM_025137.4(SPG11):c.734T>G (p.Met245Arg)
|
|
|
|
NM_025137.4(SPG11):c.739A>G (p.Asn247Asp)
|
rs1483558811
|
|
|
NM_025137.4(SPG11):c.749_750insCTG (p.Gln250delinsHisTer)
|
|
|
|
NM_025137.4(SPG11):c.75T>C (p.Val25=)
|
rs1566838661
|
|
|
NM_025137.4(SPG11):c.76C>G (p.Leu26Val)
|
|
|
|
NM_025137.4(SPG11):c.772T>C (p.Ser258Pro)
|
rs1555382900
|
|
|
NM_025137.4(SPG11):c.773dup (p.Phe259fs)
|
rs2141121011
|
|
|
NM_025137.4(SPG11):c.782C>A (p.Ser261Ter)
|
rs765477482
|
|
|
NM_025137.4(SPG11):c.784C>T (p.Leu262=)
|
rs2141120986
|
|
|
NM_025137.4(SPG11):c.786G>C (p.Leu262=)
|
rs754239754
|
|
|
NM_025137.4(SPG11):c.792T>G (p.Val264=)
|
rs1595935176
|
|
|
NM_025137.4(SPG11):c.793del (p.Ser265fs)
|
|
|
|
NM_025137.4(SPG11):c.798A>G (p.Gln266=)
|
rs1451442272
|
|
|
NM_025137.4(SPG11):c.7G>A (p.Ala3Thr)
|
rs1450340724
|
|
|
NM_025137.4(SPG11):c.801C>T (p.Asp267=)
|
rs1555382889
|
|
|
NM_025137.4(SPG11):c.813A>G (p.Ala271=)
|
|
|
|
NM_025137.4(SPG11):c.814G>A (p.Val272Met)
|
|
|
|
NM_025137.4(SPG11):c.817A>G (p.Ile273Val)
|
|
|
|
NM_025137.4(SPG11):c.819T>G (p.Ile273Met)
|
rs1232225260
|
|
|
NM_025137.4(SPG11):c.819dup (p.Val274fs)
|
|
|
|
NM_025137.4(SPG11):c.81G>A (p.Pro27=)
|
|
|
|
NM_025137.4(SPG11):c.81G>T (p.Pro27=)
|
|
|
|
NM_025137.4(SPG11):c.821T>C (p.Val274Ala)
|
rs1050146375
|
|
|
NM_025137.4(SPG11):c.824G>A (p.Ser275Asn)
|
rs769608648
|
|
|
NM_025137.4(SPG11):c.827C>G (p.Ser276Cys)
|
rs1595935078
|
|
|
NM_025137.4(SPG11):c.831C>T (p.Ser277=)
|
rs1595935061
|
|
|
NM_025137.4(SPG11):c.833A>G (p.Asn278Ser)
|
rs75309308
|
|
|
NM_025137.4(SPG11):c.833A>T (p.Asn278Ile)
|
rs75309308
|
|
|
NM_025137.4(SPG11):c.834C>T (p.Asn278=)
|
|
|
|
NM_025137.4(SPG11):c.846T>A (p.Ala282=)
|
|
|
|
NM_025137.4(SPG11):c.846T>C (p.Ala282=)
|
|
|
|
NM_025137.4(SPG11):c.852C>T (p.Asn284=)
|
|
|
|
NM_025137.4(SPG11):c.852_856del (p.Asn284fs)
|
rs1595935001
|
|
|
NM_025137.4(SPG11):c.856_857dup (p.Asn286fs)
|
|
|
|
NM_025137.4(SPG11):c.857A>G (p.Asn286Ser)
|
rs2084961885
|
|
|
NM_025137.4(SPG11):c.859T>C (p.Leu287=)
|
|
|
|
NM_025137.4(SPG11):c.85C>T (p.Leu29=)
|
|
|
|
NM_025137.4(SPG11):c.861G>T (p.Leu287Phe)
|
|
|
|
NM_025137.4(SPG11):c.863A>T (p.Tyr288Phe)
|
|
|
|
NM_025137.4(SPG11):c.869+10T>A
|
|
|
|
NM_025137.4(SPG11):c.869+11G>A
|
|
|
|
NM_025137.4(SPG11):c.869+12A>C
|
|
|
|
NM_025137.4(SPG11):c.869+13C>G
|
|
|
|
NM_025137.4(SPG11):c.869+1G>A
|
rs312262721
|
|
|
NM_025137.4(SPG11):c.869+3A>G
|
|
|
|
NM_025137.4(SPG11):c.870-13T>C
|
|
|
|
NM_025137.4(SPG11):c.870-4dup
|
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|
|
NM_025137.4(SPG11):c.870-5T>C
|
|
|
|
NM_025137.4(SPG11):c.870-9T>G
|
|
|
|
NM_025137.4(SPG11):c.877C>T (p.Pro293Ser)
|
rs919363085
|
|
|
NM_025137.4(SPG11):c.87G>A (p.Leu29=)
|
|
|
|
NM_025137.4(SPG11):c.881G>T (p.Gly294Val)
|
|
|
|
NM_025137.4(SPG11):c.885C>T (p.His295=)
|
|
|
|
NM_025137.4(SPG11):c.888A>G (p.Leu296=)
|
rs2084804985
|
|
|
NM_025137.4(SPG11):c.889C>G (p.Leu297Val)
|
rs751101312
|
|
|
NM_025137.4(SPG11):c.891G>T (p.Leu297=)
|
|
|
|
NM_025137.4(SPG11):c.894T>C (p.Cys298=)
|
|
|
|
NM_025137.4(SPG11):c.896A>G (p.Glu299Gly)
|
|
|
|
NM_025137.4(SPG11):c.898A>C (p.Arg300=)
|
|
|
|
NM_025137.4(SPG11):c.8C>T (p.Ala3Val)
|
|
|
|
NM_025137.4(SPG11):c.902T>A (p.Ile301Lys)
|
rs1032246775
|
|
|
NM_025137.4(SPG11):c.902T>C (p.Ile301Thr)
|
rs1032246775
|
|
|
NM_025137.4(SPG11):c.903A>C (p.Ile301=)
|
rs2141108395
|
|
|
NM_025137.4(SPG11):c.90G>A (p.Leu30=)
|
|
|
|
NM_025137.4(SPG11):c.916C>T (p.Pro306Ser)
|
rs776413713
|
|
|
NM_025137.4(SPG11):c.918T>A (p.Pro306=)
|
rs147614121
|
|
|
NM_025137.4(SPG11):c.918T>C (p.Pro306=)
|
|
|
|
NM_025137.4(SPG11):c.925G>T (p.Gly309Ter)
|
rs760659950
|
|
|
NM_025137.4(SPG11):c.929C>T (p.Pro310Leu)
|
|
|
|
NM_025137.4(SPG11):c.935G>T (p.Gly312Val)
|
|
|
|
NM_025137.4(SPG11):c.936C>G (p.Gly312=)
|
|
|
|
NM_025137.4(SPG11):c.939A>G (p.Val313=)
|
|
|
|
NM_025137.4(SPG11):c.939A>T (p.Val313=)
|
rs2141108255
|
|
|
NM_025137.4(SPG11):c.949G>A (p.Asp317Asn)
|
rs773433816
|
|
|
NM_025137.4(SPG11):c.953del (p.Pro318fs)
|
rs2141108180
|
|
|
NM_025137.4(SPG11):c.959A>G (p.Asn320Ser)
|
rs2084802198
|
|
|
NM_025137.4(SPG11):c.962C>G (p.Ser321Cys)
|
rs2141108155
|
|
|
NM_025137.4(SPG11):c.965C>T (p.Ala322Val)
|
|
|
|
NM_025137.4(SPG11):c.96A>G (p.Pro32=)
|
|
|
|
NM_025137.4(SPG11):c.970A>C (p.Asn324His)
|
rs997623054
|
|
|
NM_025137.4(SPG11):c.973A>G (p.Met325Val)
|
|
|
|
NM_025137.4(SPG11):c.979C>T (p.Leu327=)
|
|
|
|
NM_025137.4(SPG11):c.981G>C (p.Leu327=)
|
|
|
|
NM_025137.4(SPG11):c.986A>G (p.Lys329Arg)
|
rs2084801193
|
|
|
NM_025137.4(SPG11):c.987G>A (p.Lys329=)
|
|
|
|
NM_025137.4(SPG11):c.98T>C (p.Val33Ala)
|
rs1555384018
|
|
|
NM_025137.4(SPG11):c.992C>T (p.Ser331Phe)
|
|
|
|
NM_025137.4(SPG11):c.996C>T (p.Phe332=)
|
|
|
|
NM_025137.4(SPG11):c.999A>G (p.Gln333=)
|
rs753613456
|
|
|
NM_025137.4(SPG11):c.99C>G (p.Val33=)
|
|
|
|
NM_025137.4(SPG11):c.99C>T (p.Val33=)
|
rs1162532550
|
|
|
NM_025137.4:c.(5866+1_5867-1)_(6477+1_6478-1)del
|
|
|
|
NM_030954.4(RNF170):c.304T>C (p.Cys102Arg)
|
rs1183403793
|
|
|
NM_030954.4(RNF170):c.321T>G (p.Cys107Trp)
|
rs2128934252
|
|
|
NM_030954.4(RNF170):c.346C>T (p.Arg116Ter)
|
rs756602672
|
|
|
NM_030954.4(RNF170):c.396G>A (p.Thr132=)
|
rs766110198
|
|
|
NM_030954.4(RNF170):c.518_519del (p.Arg173fs)
|
rs2128922898
|
|
|
NM_030954.4(RNF170):c.595C>T (p.Arg199Cys)
|
rs397514478
|
|
|
NM_031448.6(C19orf12):c.-11+197T>G
|
|
|
|
NM_031448.6(C19orf12):c.-11+199G>A
|
|
|
|
NM_031448.6(C19orf12):c.-11+204G>A
|
rs2145662090
|
|
|
NM_031448.6(C19orf12):c.-11+214C>T
|
|
|
|
NM_031448.6(C19orf12):c.-11+237A>G
|
|
|
|
NM_031448.6(C19orf12):c.102C>T (p.Val34=)
|
|
|
|
NM_031448.6(C19orf12):c.105_106del (p.Ala37fs)
|
|
|
|
NM_031448.6(C19orf12):c.10A>G (p.Met4Val)
|
|
|
|
NM_031448.6(C19orf12):c.118T>G (p.Phe40Val)
|
|
|
|
NM_031448.6(C19orf12):c.120C>T (p.Phe40=)
|
|
|
|
NM_031448.6(C19orf12):c.128G>C (p.Gly43Ala)
|
|
|
|
NM_031448.6(C19orf12):c.138C>T (p.Gly46=)
|
rs552916460
|
|
|
NM_031448.6(C19orf12):c.141C>A (p.Gly47=)
|
|
|
|
NM_031448.6(C19orf12):c.147G>A (p.Pro49=)
|
|
|
|
NM_031448.6(C19orf12):c.152T>C (p.Leu51Pro)
|
rs2145639419
|
|
|
NM_031448.6(C19orf12):c.153C>T (p.Leu51=)
|
|
|
|
NM_031448.6(C19orf12):c.154G>A (p.Ala52Thr)
|
rs376103979
|
|
|
NM_031448.6(C19orf12):c.157G>A (p.Val53Ile)
|
|
|
|
NM_031448.6(C19orf12):c.157G>C (p.Val53Leu)
|
|
|
|
NM_031448.6(C19orf12):c.160+9A>G
|
rs771382701
|
|
|
NM_031448.6(C19orf12):c.161-13C>T
|
|
|
|
NM_031448.6(C19orf12):c.161-17G>A
|
rs749345042
|
|
|
NM_031448.6(C19orf12):c.161-1G>T
|
|
|
|
NM_031448.6(C19orf12):c.161-2A>T
|
|
|
|
NM_031448.6(C19orf12):c.161-9G>A
|
|
|
|
NM_031448.6(C19orf12):c.161G>A (p.Gly54Glu)
|
rs752450983
|
|
|
NM_031448.6(C19orf12):c.161G>C (p.Gly54Ala)
|
rs752450983
|
|
|
NM_031448.6(C19orf12):c.161_170dup (p.Leu60fs)
|
|
|
|
NM_031448.6(C19orf12):c.163G>C (p.Gly55Arg)
|
rs1972192000
|
|
|
NM_031448.6(C19orf12):c.165G>A (p.Gly55=)
|
rs201194487
|
|
|
NM_031448.6(C19orf12):c.165G>C (p.Gly55=)
|
|
|
|
NM_031448.6(C19orf12):c.165G>T (p.Gly55=)
|
rs201194487
|
|
|
NM_031448.6(C19orf12):c.166del
|
rs398122409
|
|
|
NM_031448.6(C19orf12):c.171_181del (p.Gly58fs)
|
rs515726204
|
|
|
NM_031448.6(C19orf12):c.174G>A (p.Gly58=)
|
|
|
|
NM_031448.6(C19orf12):c.174G>T (p.Gly58=)
|
|
|
|
NM_031448.6(C19orf12):c.177G>T (p.Gly59=)
|
|
|
|
NM_031448.6(C19orf12):c.189C>T (p.Ala63=)
|
|
|
|
NM_031448.6(C19orf12):c.1A>G (p.Met1Val)
|
|
|
|
NM_031448.6(C19orf12):c.204A>T (p.Gly68=)
|
rs1555714878
|
|
|
NM_031448.6(C19orf12):c.211_212dup (p.Pro72fs)
|
rs1972186898
|
|
|
NM_031448.6(C19orf12):c.215C>A (p.Pro72Gln)
|
|
|
|
NM_031448.6(C19orf12):c.240G>T (p.Leu80=)
|
rs766024250
|
|
|
NM_031448.6(C19orf12):c.244C>A (p.Pro82Thr)
|
|
|
|
NM_031448.6(C19orf12):c.250G>T (p.Glu84Ter)
|
|
|
|
NM_031448.6(C19orf12):c.260G>A (p.Arg87Lys)
|
|
|
|
NM_031448.6(C19orf12):c.268A>G (p.Asn90Asp)
|
rs1972180871
|
|
|
NM_031448.6(C19orf12):c.270C>G (p.Asn90Lys)
|
|
|
|
NM_031448.6(C19orf12):c.270C>T (p.Asn90=)
|
|
|
|
NM_031448.6(C19orf12):c.270del (p.Asn90fs)
|
rs1555714836
|
|
|
NM_031448.6(C19orf12):c.271G>A (p.Glu91Lys)
|
|
|
|
NM_031448.6(C19orf12):c.277G>T (p.Ala93Ser)
|
|
|
|
NM_031448.6(C19orf12):c.279del (p.Ala94fs)
|
rs2145622361
|
|
|
NM_031448.6(C19orf12):c.282dup (p.Ile95fs)
|
rs1555714827
|
|
|
NM_031448.6(C19orf12):c.283A>G (p.Ile95Val)
|
|
|
|
NM_031448.6(C19orf12):c.286A>G (p.Ile96Val)
|
|
|
|
NM_031448.6(C19orf12):c.286A>T (p.Ile96Phe)
|
|
|
|
NM_031448.6(C19orf12):c.294C>G (p.His98Gln)
|
rs2145622256
|
|
|
NM_031448.6(C19orf12):c.2T>C (p.Met1Thr)
|
rs764309455
|
|
|
NM_031448.6(C19orf12):c.304A>T (p.Thr102Ser)
|
|
|
|
NM_031448.6(C19orf12):c.310G>A (p.Ala104Thr)
|
|
|
|
NM_031448.6(C19orf12):c.325G>A (p.Ala109Thr)
|
|
|
|
NM_031448.6(C19orf12):c.325dup (p.Ala109fs)
|
|
|
|
NM_031448.6(C19orf12):c.334A>G (p.Met112Val)
|
|
|
|
NM_031448.6(C19orf12):c.33G>C (p.Leu11=)
|
|
|
|
NM_031448.6(C19orf12):c.342C>T (p.Ser114=)
|
|
|
|
NM_031448.6(C19orf12):c.347C>A (p.Ala116Asp)
|
|
|
|
NM_031448.6(C19orf12):c.349del (p.Leu117fs)
|
|
|
|
NM_031448.6(C19orf12):c.356A>G (p.Gln119Arg)
|
|
|
|
NM_031448.6(C19orf12):c.36_40del (p.Cys13fs)
|
|
|
|
NM_031448.6(C19orf12):c.394G>C (p.Glu132Gln)
|
|
|
|
NM_031448.6(C19orf12):c.405C>T (p.Ala135=)
|
|
|
|
NM_031448.6(C19orf12):c.406G>A (p.Glu136Lys)
|
|
|
|
NM_031448.6(C19orf12):c.408G>A (p.Glu136=)
|
rs1485597261
|
|
|
NM_031448.6(C19orf12):c.412C>A (p.Gln138Lys)
|
|
|
|
NM_031448.6(C19orf12):c.4A>G (p.Thr2Ala)
|
rs2145640278
|
|
|
NM_031448.6(C19orf12):c.57del (p.Lys20fs)
|
|
|
|
NM_031448.6(C19orf12):c.68C>A (p.Ala23Glu)
|
rs544395324
|
|
|
NM_031448.6(C19orf12):c.72T>C (p.Ala24=)
|
|
|
|
NM_031448.6(C19orf12):c.7A>G (p.Ile3Val)
|
|
|
|
NM_031448.6(C19orf12):c.97C>T (p.Leu33=)
|
rs924400456
|
|
|
NM_032756.4(HPDL):c.1066G>C (p.Ala356Pro)
|
|
|
|
NM_032756.4(HPDL):c.862T>C (p.Tyr288His)
|
|
|
|
NM_033505.4(SELENOI):c.1019C>T (p.Ser340Phe)
|
|
|
|
NM_033505.4(SELENOI):c.126G>A (p.Lys42=)
|
|
|
|
NM_033505.4(SELENOI):c.134C>T (p.Pro45Leu)
|
|
|
|
NM_033505.4(SELENOI):c.335G>C (p.Arg112Pro)
|
rs933233143
|
|
|
NM_033505.4(SELENOI):c.732-2A>G
|
rs1572337800
|
|
|
NM_058004.4(PI4KA):c.1015A>G (p.Ile339Val)
|
|
|
|
NM_058004.4(PI4KA):c.1062T>C (p.Ser354=)
|
|
|
|
NM_058004.4(PI4KA):c.1076A>G (p.Asn359Ser)
|
rs1935729656
|
|
|
NM_058004.4(PI4KA):c.1185T>C (p.Phe395=)
|
|
|
|
NM_058004.4(PI4KA):c.156+5C>G
|
|
|
|
NM_058004.4(PI4KA):c.1687G>T (p.Glu563Ter)
|
|
|
|
NM_058004.4(PI4KA):c.1820+6C>T
|
|
|
|
NM_058004.4(PI4KA):c.1852C>T (p.Arg618Ter)
|
rs201395198
|
|
|
NM_058004.4(PI4KA):c.2005-4C>T
|
|
|
|
NM_058004.4(PI4KA):c.2041C>A (p.Gln681Lys)
|
|
|
|
NM_058004.4(PI4KA):c.210A>G (p.Leu70=)
|
|
|
|
NM_058004.4(PI4KA):c.2236C>T (p.Arg746Ter)
|
|
|
|
NM_058004.4(PI4KA):c.2329-14T>A
|
rs73161000
|
|
|
NM_058004.4(PI4KA):c.2330T>C (p.Leu777Pro)
|
rs1490645147
|
|
|
NM_058004.4(PI4KA):c.2386del (p.Arg796fs)
|
rs1932452329
|
|
|
NM_058004.4(PI4KA):c.2421C>T (p.Phe807=)
|
|
|
|
NM_058004.4(PI4KA):c.24AGGCGG[2] (p.Gly15_Gly18del)
|
|
|
|
NM_058004.4(PI4KA):c.2575-8C>A
|
|
|
|
NM_058004.4(PI4KA):c.2624dup (p.Pro876fs)
|
rs747391554
|
|
|
NM_058004.4(PI4KA):c.2684C>T (p.Ser895Phe)
|
rs1932362121
|
|
|
NM_058004.4(PI4KA):c.2708+6C>T
|
|
|
|
NM_058004.4(PI4KA):c.274-21A>G
|
rs5760899
|
|
|
NM_058004.4(PI4KA):c.274-3dup
|
|
|
|
NM_058004.4(PI4KA):c.2751del (p.Cys918fs)
|
|
|
|
NM_058004.4(PI4KA):c.2802_2863-40del
|
|
|
|
NM_058004.4(PI4KA):c.2819C>T (p.Ala940Val)
|
|
|
|
NM_058004.4(PI4KA):c.2856G>A (p.Ala952=)
|
|
|
|
NM_058004.4(PI4KA):c.2970A>G (p.Leu990=)
|
|
|
|
NM_058004.4(PI4KA):c.2977del (p.Leu993fs)
|
|
|
|
NM_058004.4(PI4KA):c.2987+8C>T
|
|
|
|
NM_058004.4(PI4KA):c.2988-2A>G
|
|
|
|
NM_058004.4(PI4KA):c.3009C>T (p.Ser1003=)
|
|
|
|
NM_058004.4(PI4KA):c.3033G>A (p.Leu1011=)
|
rs11552980
|
|
|
NM_058004.4(PI4KA):c.3033G>C (p.Leu1011=)
|
rs11552980
|
|
|
NM_058004.4(PI4KA):c.3109G>A (p.Ala1037Thr)
|
rs1568988215
|
|
|
NM_058004.4(PI4KA):c.3126G>A (p.Thr1042=)
|
|
|
|
NM_058004.4(PI4KA):c.3153+8C>T
|
|
|
|
NM_058004.4(PI4KA):c.3275C>A (p.Ser1092Ter)
|
rs144933467
|
|
|
NM_058004.4(PI4KA):c.3294G>A (p.Thr1098=)
|
|
|
|
NM_058004.4(PI4KA):c.3372G>A (p.Gln1124=)
|
|
|
|
NM_058004.4(PI4KA):c.3378C>T (p.Ser1126=)
|
|
|
|
NM_058004.4(PI4KA):c.351A>G (p.Thr117=)
|
|
|
|
NM_058004.4(PI4KA):c.3571C>T (p.Gln1191Ter)
|
rs2147287553
|
|
|
NM_058004.4(PI4KA):c.3592G>A (p.Ala1198Thr)
|
rs1929601378
|
|
|
NM_058004.4(PI4KA):c.3646T>C (p.Trp1216Arg)
|
|
|
|
NM_058004.4(PI4KA):c.3757G>A (p.Ala1253Thr)
|
|
|
|
NM_058004.4(PI4KA):c.3868C>G (p.Pro1290Ala)
|
|
|
|
NM_058004.4(PI4KA):c.3918dup (p.Glu1307Ter)
|
|
|
|
NM_058004.4(PI4KA):c.3976C>T (p.Arg1326Cys)
|
|
|
|
NM_058004.4(PI4KA):c.405G>A (p.Leu135=)
|
|
|
|
NM_058004.4(PI4KA):c.4156T>G (p.Phe1386Val)
|
|
|
|
NM_058004.4(PI4KA):c.4489G>A (p.Ala1497Thr)
|
|
|
|
NM_058004.4(PI4KA):c.4539G>A (p.Pro1513=)
|
|
|
|
NM_058004.4(PI4KA):c.4682+10C>T
|
|
|
|
NM_058004.4(PI4KA):c.4773+6G>A
|
|
|
|
NM_058004.4(PI4KA):c.4901del (p.Thr1634fs)
|
|
|
|
NM_058004.4(PI4KA):c.4995+3A>G
|
|
|
|
NM_058004.4(PI4KA):c.5031G>A (p.Ala1677=)
|
|
|
|
NM_058004.4(PI4KA):c.5116C>G (p.Pro1706Ala)
|
|
|
|
NM_058004.4(PI4KA):c.5159C>T (p.Thr1720Ile)
|
rs2147194890
|
|
|
NM_058004.4(PI4KA):c.5456AAG[1] (p.Glu1820del)
|
rs1925715512
|
|
|
NM_058004.4(PI4KA):c.5645T>C (p.Phe1882Ser)
|
rs1925470890
|
|
|
NM_058004.4(PI4KA):c.5653C>T (p.Arg1885Cys)
|
|
|
|
NM_058004.4(PI4KA):c.574C>T (p.Arg192Ter)
|
|
|
|
NM_058004.4(PI4KA):c.5774G>A (p.Gly1925Glu)
|
rs2147171210
|
|
|
NM_058004.4(PI4KA):c.5821C>T (p.Arg1941Ter)
|
rs767451281
|
|
|
NM_058004.4(PI4KA):c.5860C>G (p.Gln1954Glu)
|
|
|
|
NM_058004.4(PI4KA):c.5974C>T (p.Pro1992Ser)
|
rs2147164417
|
|
|
NM_058004.4(PI4KA):c.6065del (p.Arg2022fs)
|
rs1419816068
|
|
|
NM_058004.4(PI4KA):c.6142T>A (p.Cys2048Ser)
|
|
|
|
NM_058004.4(PI4KA):c.6156_6159del (p.Thr2053fs)
|
rs139598272
|
|
|
NM_058004.4(PI4KA):c.712del (p.Leu238fs)
|
|
|
|
NM_058004.4(PI4KA):c.735C>A (p.Val245=)
|
|
|
|
NM_058004.4(PI4KA):c.786T>C (p.Ser262=)
|
|
|
|
NM_058004.4(PI4KA):c.789+9G>A
|
|
|
|
NM_058004.4(PI4KA):c.870C>T (p.Pro290=)
|
|
|
|
NM_058004.4(PI4KA):c.911T>A (p.Ile304Asn)
|
rs752196534
|
|
|
NM_058004.4(PI4KA):c.984G>A (p.Met328Ile)
|
|
|
|
NM_058004.4(PI4KA):c.9G>C (p.Ala3=)
|
|
|
|
NM_058004.4(PI4KA):c.[1414A>C;355C>T]
|
|
|
|
NM_133443.4(GPT2):c.1035C>T (p.Gly345=)
|
|
|
|
NM_133443.4(GPT2):c.1120C>T (p.Arg374Cys)
|
|
|
|
NM_133443.4(GPT2):c.1172C>T (p.Pro391Leu)
|
rs140993544
|
|
|
NM_133443.4(GPT2):c.1177dup (p.Val393fs)
|
|
|
|
NM_133443.4(GPT2):c.1210C>T (p.Arg404Ter)
|
rs115352435
|
|
|
NM_133443.4(GPT2):c.1432_1433del (p.Val478fs)
|
rs1961429340
|
|
|
NM_133443.4(GPT2):c.1435G>A (p.Val479Met)
|
rs1372862248
|
|
|
NM_133443.4(GPT2):c.1441G>A (p.Gly481Ser)
|
rs745565332
|
|
|
NM_133443.4(GPT2):c.1481+3del
|
|
|
|
NM_133443.4(GPT2):c.217G>A (p.Gly73Ser)
|
|
|
|
NM_133443.4(GPT2):c.306del (p.Gln103fs)
|
|
|
|
NM_133443.4(GPT2):c.328C>T (p.Arg110Trp)
|
|
|
|
NM_133443.4(GPT2):c.333+2T>G
|
|
|
|
NM_133443.4(GPT2):c.400C>T (p.Arg134Cys)
|
rs1420397443
|
|
|
NM_133443.4(GPT2):c.459C>G (p.Ser153Arg)
|
rs786203999
|
|
|
NM_133443.4(GPT2):c.487G>A (p.Val163Met)
|
rs1452698180
|
|
|
NM_133443.4(GPT2):c.518G>C (p.Gly173Ala)
|
|
|
|
NM_133443.4(GPT2):c.545A>T (p.Tyr182Phe)
|
|
|
|
NM_133443.4(GPT2):c.589A>G (p.Ile197Val)
|
rs748267502
|
|
|
NM_133443.4(GPT2):c.58del (p.Trp20fs)
|
|
|
|
NM_133443.4(GPT2):c.812A>C (p.Asn271Thr)
|
rs1961013082
|
|
|
NM_133443.4(GPT2):c.815C>T (p.Pro272Leu)
|
rs886038199
|
|
|
NM_133443.4(GPT2):c.839A>G (p.Lys280Arg)
|
|
|
|
NM_133443.4(GPT2):c.886C>T (p.Leu296Phe)
|
|
|
|
NM_133443.4(GPT2):c.924_925del (p.Pro309fs)
|
|
|
|
NM_133443.4(GPT2):c.935G>C (p.Arg312Thr)
|
|
|
|
NM_133443.4(GPT2):c.971G>A (p.Gly324Glu)
|
|
|
|
NM_138288.4(SPTSSA):c.152C>T (p.Thr51Ile)
|
|
|
|
NM_138288.4(SPTSSA):c.171_172del (p.Gln58fs)
|
|
|
|
NM_138368.5(AP5B1):c.1791G>C (p.Gln597His)
|
rs375914619
|
|
|
NM_138368.5(AP5B1):c.2089T>C (p.Phe697Leu)
|
rs1555023306
|
|
|
NM_138927.4(SON):c.5753_5756del (p.Val1918fs)
|
rs886039773
|
|
|
NM_144599.5(NIPA1):c.*1176T>C
|
rs1326921965
|
|
|
NM_144599.5(NIPA1):c.*2106T>C
|
rs886050998
|
|
|
NM_144599.5(NIPA1):c.*2209T>C
|
rs886050996
|
|
|
NM_144599.5(NIPA1):c.*2246G>A
|
rs1595649611
|
|
|
NM_144599.5(NIPA1):c.*2398A>G
|
rs188278999
|
|
|
NM_144599.5(NIPA1):c.*2515G>C
|
rs6606820
|
|
|
NM_144599.5(NIPA1):c.*2723A>C
|
rs1895664677
|
|
|
NM_144599.5(NIPA1):c.*2781G>T
|
rs192859420
|
|
|
NM_144599.5(NIPA1):c.*3110C>T
|
rs568699524
|
|
|
NM_144599.5(NIPA1):c.*3169A>G
|
rs886050991
|
|
|
NM_144599.5(NIPA1):c.*3705C>T
|
rs866431669
|
|
|
NM_144599.5(NIPA1):c.*37A>T
|
rs886051007
|
|
|
NM_144599.5(NIPA1):c.*3838G>A
|
rs752012233
|
|
|
NM_144599.5(NIPA1):c.*3885C>T
|
rs972270077
|
|
|
NM_144599.5(NIPA1):c.*4199A>G
|
rs1895693174
|
|
|
NM_144599.5(NIPA1):c.*4510T>C
|
rs528249723
|
|
|
NM_144599.5(NIPA1):c.*4519T>C
|
rs1895698772
|
|
|
NM_144599.5(NIPA1):c.*4870T>G
|
rs886050988
|
|
|
NM_144599.5(NIPA1):c.*4914G>T
|
rs1022149490
|
|
|
NM_144599.5(NIPA1):c.*5430T>G
|
rs886050986
|
|
|
NM_144599.5(NIPA1):c.*548A>C
|
rs886051005
|
|
|
NM_144599.5(NIPA1):c.*647A>G
|
rs1895618258
|
|
|
NM_144599.5(NIPA1):c.*709G>A
|
rs922263881
|
|
|
NM_144599.5(NIPA1):c.106G>T (p.Val36Phe)
|
rs772941328
|
|
|
NM_144599.5(NIPA1):c.11C>T (p.Ala4Val)
|
rs1158637890
|
|
|
NM_144599.5(NIPA1):c.121G>A (p.Val41Met)
|
rs2140841479
|
|
|
NM_144599.5(NIPA1):c.126C>T (p.Asn42=)
|
|
|
|
NM_144599.5(NIPA1):c.12_17del (p.Ala15_Ala16del)
|
rs1192699698
|
|
|
NM_144599.5(NIPA1):c.130T>G (p.Ser44Ala)
|
rs1595626779
|
|
|
NM_144599.5(NIPA1):c.134C>G (p.Thr45Arg)
|
rs104894496
|
|
|
NM_144599.5(NIPA1):c.139G>A (p.Val47Met)
|
|
|
|
NM_144599.5(NIPA1):c.14C>T (p.Ala5Val)
|
|
|
|
NM_144599.5(NIPA1):c.15_23del (p.Ala14_Ala16del)
|
rs1204568027
|
|
|
NM_144599.5(NIPA1):c.160G>A (p.Val54Met)
|
|
|
|
NM_144599.5(NIPA1):c.166G>A (p.Ala56Thr)
|
|
|
|
NM_144599.5(NIPA1):c.178+9G>A
|
rs1259857257
|
|
|
NM_144599.5(NIPA1):c.179-11A>C
|
|
|
|
NM_144599.5(NIPA1):c.179-4A>G
|
|
|
|
NM_144599.5(NIPA1):c.179-5T>C
|
rs774341557
|
|
|
NM_144599.5(NIPA1):c.179-9T>C
|
|
|
|
NM_144599.5(NIPA1):c.17C>A (p.Ala6Glu)
|
rs944860201
|
|
|
NM_144599.5(NIPA1):c.17C>G (p.Ala6Gly)
|
rs944860201
|
|
|
NM_144599.5(NIPA1):c.17C>T (p.Ala6Val)
|
|
|
|
NM_144599.5(NIPA1):c.18_20dup (p.Ala16_Gly17insAla)
|
|
|
|
NM_144599.5(NIPA1):c.19G>A (p.Ala7Thr)
|
rs1894707917
|
|
|
NM_144599.5(NIPA1):c.1A>G (p.Met1Val)
|
rs1310579113
|
|
|
NM_144599.5(NIPA1):c.204G>A (p.Val68=)
|
|
|
|
NM_144599.5(NIPA1):c.20C>T (p.Ala7Val)
|
rs1416457811
|
|
|
NM_144599.5(NIPA1):c.216C>G (p.Gly72=)
|
|
|
|
NM_144599.5(NIPA1):c.217A>C (p.Thr73Pro)
|
|
|
|
NM_144599.5(NIPA1):c.21_23del (p.Ala16del)
|
rs769916931
|
|
|
NM_144599.5(NIPA1):c.21_26del (p.Ala15_Ala16del)
|
rs1555371600
|
|
|
NM_144599.5(NIPA1):c.21_26dup (p.Ala15_Ala16dup)
|
rs1555371600
|
|
|
NM_144599.5(NIPA1):c.21_29del (p.Ala14_Ala16del)
|
rs1555371599
|
|
|
NM_144599.5(NIPA1):c.21_35del (p.Ala12_Ala16del)
|
|
|
|
NM_144599.5(NIPA1):c.21_38del (p.Ala11_Ala16del)
|
|
|
|
NM_144599.5(NIPA1):c.21_47del (p.Ala8_Ala16del)
|
|
|
|
NM_144599.5(NIPA1):c.222C>T (p.Ile74=)
|
rs778472114
|
|
|
NM_144599.5(NIPA1):c.226+19G>A
|
|
|
|
NM_144599.5(NIPA1):c.226A>G (p.Met76Val)
|
|
|
|
NM_144599.5(NIPA1):c.227-5G>C
|
|
|
|
NM_144599.5(NIPA1):c.227T>C (p.Met76Thr)
|
|
|
|
NM_144599.5(NIPA1):c.228G>A (p.Met76Ile)
|
|
|
|
NM_144599.5(NIPA1):c.24G>T (p.Ala8=)
|
|
|
|
NM_144599.5(NIPA1):c.24GGC[10] (p.Ala15_Ala16dup)
|
rs531550505
|
|
|
NM_144599.5(NIPA1):c.24GGC[11] (p.Ala14_Ala16dup)
|
rs531550505
|
|
|
NM_144599.5(NIPA1):c.24GGC[12] (p.Ala13_Ala16dup)
|
rs531550505
|
|
|
NM_144599.5(NIPA1):c.24GGC[1] (p.Ala10_Ala16del)
|
|
|
|
NM_144599.5(NIPA1):c.24GGC[2] (p.Ala11_Ala16del)
|
|
|
|
NM_144599.5(NIPA1):c.24GGC[3] (p.Ala12_Ala16del)
|
rs531550505
|
|
|
NM_144599.5(NIPA1):c.24GGC[4] (p.Ala13_Ala16del)
|
rs531550505
|
|
|
NM_144599.5(NIPA1):c.24GGC[5] (p.Ala14_Ala16del)
|
rs531550505
|
|
|
NM_144599.5(NIPA1):c.24GGC[6] (p.Ala15_Ala16del)
|
rs531550505
|
|
|
NM_144599.5(NIPA1):c.24GGC[7] (p.Ala16del)
|
rs531550505
|
|
|
NM_144599.5(NIPA1):c.24GGC[9] (p.Ala16dup)
|
rs531550505
|
|
|
NM_144599.5(NIPA1):c.257C>G (p.Ala86Gly)
|
|
|
|
NM_144599.5(NIPA1):c.264G>A (p.Thr88=)
|
|
|
|
NM_144599.5(NIPA1):c.28G>A (p.Ala10Thr)
|
|
|
|
NM_144599.5(NIPA1):c.291C>A (p.Pro97=)
|
rs199818530
|
|
|
NM_144599.5(NIPA1):c.291C>T (p.Pro97=)
|
rs199818530
|
|
|
NM_144599.5(NIPA1):c.292C>A (p.Leu98Met)
|
rs1235395631
|
|
|
NM_144599.5(NIPA1):c.299C>T (p.Ala100Val)
|
rs1356799862
|
|
|
NM_144599.5(NIPA1):c.29_30insAGCGGC (p.Ala16_Gly17insAlaAla)
|
|
|
|
NM_144599.5(NIPA1):c.311C>T (p.Pro104Leu)
|
|
|
|
NM_144599.5(NIPA1):c.316G>A (p.Gly106Arg)
|
rs104894490
|
|
|
NM_144599.5(NIPA1):c.316G>C (p.Gly106Arg)
|
rs104894490
|
|
|
NM_144599.5(NIPA1):c.317+13A>G
|
rs372614917
|
|
|
NM_144599.5(NIPA1):c.318-12T>G
|
|
|
|
NM_144599.5(NIPA1):c.318-6A>G
|
|
|
|
NM_144599.5(NIPA1):c.32C>G (p.Ala11Gly)
|
|
|
|
NM_144599.5(NIPA1):c.32C>T (p.Ala11Val)
|
|
|
|
NM_144599.5(NIPA1):c.403G>A (p.Val135Met)
|
rs763295984
|
|
|
NM_144599.5(NIPA1):c.40G>A (p.Ala14Thr)
|
rs1346667835
|
|
|
NM_144599.5(NIPA1):c.411T>C (p.Ile137=)
|
rs1202986314
|
|
|
NM_144599.5(NIPA1):c.417C>T (p.His139=)
|
rs2140874968
|
|
|
NM_144599.5(NIPA1):c.427T>G (p.Ser143Ala)
|
rs886051008
|
|
|
NM_144599.5(NIPA1):c.432G>A (p.Glu144=)
|
|
|
|
NM_144599.5(NIPA1):c.45G>A (p.Ala15=)
|
rs1555371616
|
|
|
NM_144599.5(NIPA1):c.471C>G (p.Thr157=)
|
|
|
|
NM_144599.5(NIPA1):c.477A>G (p.Pro159=)
|
rs2140875018
|
|
|
NM_144599.5(NIPA1):c.479-11C>T
|
rs2140877624
|
|
|
NM_144599.5(NIPA1):c.479-7G>A
|
rs758551462
|
|
|
NM_144599.5(NIPA1):c.480G>A (p.Val160=)
|
|
|
|
NM_144599.5(NIPA1):c.49G>A (p.Gly17Arg)
|
rs780312828
|
|
|
NM_144599.5(NIPA1):c.501C>T (p.Ile167=)
|
|
|
|
NM_144599.5(NIPA1):c.502G>A (p.Val168Met)
|
|
|
|
NM_144599.5(NIPA1):c.508C>G (p.Leu170Val)
|
rs1895592461
|
|
|
NM_144599.5(NIPA1):c.511A>T (p.Met171Leu)
|
rs762651676
|
|
|
NM_144599.5(NIPA1):c.51G>C (p.Gly17=)
|
rs1252900673
|
|
|
NM_144599.5(NIPA1):c.549T>C (p.His183=)
|
|
|
|
NM_144599.5(NIPA1):c.562A>G (p.Ile188Val)
|
|
|
|
NM_144599.5(NIPA1):c.573C>T (p.Tyr191=)
|
|
|
|
NM_144599.5(NIPA1):c.606C>T (p.Thr202=)
|
|
|
|
NM_144599.5(NIPA1):c.642A>C (p.Gln214His)
|
rs1240373706
|
|
|
NM_144599.5(NIPA1):c.646A>G (p.Ile216Val)
|
|
|
|
NM_144599.5(NIPA1):c.67C>T (p.Pro23Ser)
|
|
|
|
NM_144599.5(NIPA1):c.6G>C (p.Gly2=)
|
|
|
|
NM_144599.5(NIPA1):c.701T>C (p.Leu234Pro)
|
|
|
|
NM_144599.5(NIPA1):c.702G>A (p.Leu234=)
|
|
|
|
NM_144599.5(NIPA1):c.706G>A (p.Val236Met)
|
|
|
|
NM_144599.5(NIPA1):c.70A>G (p.Ser24Gly)
|
|
|
|
NM_144599.5(NIPA1):c.731A>G (p.Gln244Arg)
|
rs1895598333
|
|
|
NM_144599.5(NIPA1):c.748A>C (p.Lys250Gln)
|
rs1489382661
|
|
|
NM_144599.5(NIPA1):c.765C>T (p.Phe255=)
|
rs369533629
|
|
|
NM_144599.5(NIPA1):c.768C>T (p.Asp256=)
|
|
|
|
NM_144599.5(NIPA1):c.774G>T (p.Ser258=)
|
rs371993191
|
|
|
NM_144599.5(NIPA1):c.795C>T (p.Tyr265=)
|
|
|
|
NM_144599.5(NIPA1):c.796G>A (p.Val266Ile)
|
|
|
|
NM_144599.5(NIPA1):c.797T>A (p.Val266Asp)
|
|
|
|
NM_144599.5(NIPA1):c.801G>A (p.Val267=)
|
|
|
|
NM_144599.5(NIPA1):c.806C>T (p.Thr269Ile)
|
rs2140877924
|
|
|
NM_144599.5(NIPA1):c.837C>T (p.Leu279=)
|
rs376319442
|
|
|
NM_144599.5(NIPA1):c.853A>G (p.Asn285Asp)
|
|
|
|
NM_144599.5(NIPA1):c.894C>T (p.Phe298=)
|
rs1555374032
|
|
|
NM_144599.5(NIPA1):c.896C>T (p.Thr299Met)
|
rs756976675
|
|
|
NM_144599.5(NIPA1):c.897G>T (p.Thr299=)
|
rs368507906
|
|
|
NM_144599.5(NIPA1):c.907G>C (p.Val303Leu)
|
|
|
|
NM_144599.5(NIPA1):c.99C>T (p.Gly33=)
|
rs1370367415
|
|
|
NM_152269.5(MTRFR):c.110C>T (p.Ala37Val)
|
rs2138792701
|
|
|
NM_152269.5(MTRFR):c.127_146del (p.Met43fs)
|
rs2048145654
|
|
|
NM_152269.5(MTRFR):c.215G>C (p.Gly72Ala)
|
rs1207537130
|
|
|
NM_152269.5(MTRFR):c.234C>A (p.Thr78=)
|
rs140942886
|
|
|
NM_152269.5(MTRFR):c.246G>A (p.Val82=)
|
rs1593287730
|
|
|
NM_152269.5(MTRFR):c.248del (p.Val83fs)
|
rs587776508
|
|
|
NM_152269.5(MTRFR):c.282+2T>A
|
rs587777668
|
|
|
NM_152269.5(MTRFR):c.346del (p.Lys115_Val116insTer)
|
rs398122972
|
|
|
NM_152269.5(MTRFR):c.413_417del (p.Lys138fs)
|
rs587777667
|
|
|
NM_152269.5(MTRFR):c.415C>T (p.Gln139Ter)
|
rs398122365
|
|
|
NM_152415.3(VPS37A):c.1053C>G (p.Asp351Glu)
|
rs2285269
|
|
|
NM_152415.3(VPS37A):c.1081G>A (p.Asp361Asn)
|
|
|
|
NM_152415.3(VPS37A):c.1113+13C>T
|
|
|
|
NM_152415.3(VPS37A):c.1114-18C>T
|
|
|
|
NM_152415.3(VPS37A):c.1114-5T>C
|
|
|
|
NM_152415.3(VPS37A):c.1145A>C (p.Lys382Thr)
|
rs1554498242
|
|
|
NM_152415.3(VPS37A):c.1146A>T (p.Lys382Asn)
|
rs211694394
|
|
|
NM_152415.3(VPS37A):c.1157C>T (p.Ala386Val)
|
|
|
|
NM_152415.3(VPS37A):c.1158G>A (p.Ala386=)
|
|
|
|
NM_152415.3(VPS37A):c.1165A>G (p.Met389Val)
|
|
|
|
NM_152415.3(VPS37A):c.1165A>T (p.Met389Leu)
|
rs773370398
|
|
|
NM_152415.3(VPS37A):c.1168C>T (p.His390Tyr)
|
|
|
|
NM_152415.3(VPS37A):c.1191A>G (p.Leu397=)
|
|
|
|
NM_152415.3(VPS37A):c.125+11_125+15del
|
|
|
|
NM_152415.3(VPS37A):c.125+15C>T
|
|
|
|
NM_152415.3(VPS37A):c.126-14A>C
|
|
|
|
NM_152415.3(VPS37A):c.126-16A>C
|
|
|
|
NM_152415.3(VPS37A):c.126-1G>C
|
|
|
|
NM_152415.3(VPS37A):c.131C>A (p.Ala44Asp)
|
|
|
|
NM_152415.3(VPS37A):c.157A>C (p.Arg53=)
|
|
|
|
NM_152415.3(VPS37A):c.159A>G (p.Arg53=)
|
|
|
|
NM_152415.3(VPS37A):c.163C>A (p.Pro55Thr)
|
|
|
|
NM_152415.3(VPS37A):c.201-10C>T
|
|
|
|
NM_152415.3(VPS37A):c.215A>G (p.Gln72Arg)
|
|
|
|
NM_152415.3(VPS37A):c.258A>G (p.Ile86Met)
|
|
|
|
NM_152415.3(VPS37A):c.261A>G (p.Arg87=)
|
|
|
|
NM_152415.3(VPS37A):c.296C>A (p.Thr99Asn)
|
rs1813663437
|
|
|
NM_152415.3(VPS37A):c.315+11G>A
|
|
|
|
NM_152415.3(VPS37A):c.315+4T>G
|
|
|
|
NM_152415.3(VPS37A):c.316-19C>T
|
|
|
|
NM_152415.3(VPS37A):c.31G>T (p.Ala11Ser)
|
|
|
|
NM_152415.3(VPS37A):c.32C>G (p.Ala11Gly)
|
|
|
|
NM_152415.3(VPS37A):c.350A>G (p.Gln117Arg)
|
|
|
|
NM_152415.3(VPS37A):c.361G>A (p.Asp121Asn)
|
rs1020184933
|
|
|
NM_152415.3(VPS37A):c.404C>T (p.Thr135Ile)
|
|
|
|
NM_152415.3(VPS37A):c.416+3A>G
|
rs1813723711
|
|
|
NM_152415.3(VPS37A):c.417-17_417-15del
|
|
|
|
NM_152415.3(VPS37A):c.417-20T>C
|
|
|
|
NM_152415.3(VPS37A):c.417-2A>G
|
rs752142940
|
|
|
NM_152415.3(VPS37A):c.417-8C>T
|
|
|
|
NM_152415.3(VPS37A):c.417-9T>C
|
|
|
|
NM_152415.3(VPS37A):c.424A>T (p.Ser142Cys)
|
rs371463914
|
|
|
NM_152415.3(VPS37A):c.438G>A (p.Gly146=)
|
|
|
|
NM_152415.3(VPS37A):c.446C>T (p.Pro149Leu)
|
rs560097044
|
|
|
NM_152415.3(VPS37A):c.512C>T (p.Thr171Ile)
|
|
|
|
NM_152415.3(VPS37A):c.526G>A (p.Ala176Thr)
|
rs1346953622
|
|
|
NM_152415.3(VPS37A):c.526G>T (p.Ala176Ser)
|
rs1346953622
|
|
|
NM_152415.3(VPS37A):c.532A>C (p.Thr178Pro)
|
rs1814361607
|
|
|
NM_152415.3(VPS37A):c.533C>G (p.Thr178Ser)
|
|
|
|
NM_152415.3(VPS37A):c.545CAA[2] (p.Thr184del)
|
|
|
|
NM_152415.3(VPS37A):c.571C>G (p.Pro191Ala)
|
|
|
|
NM_152415.3(VPS37A):c.577G>A (p.Ala193Thr)
|
|
|
|
NM_152415.3(VPS37A):c.577G>T (p.Ala193Ser)
|
rs374964443
|
|
|
NM_152415.3(VPS37A):c.600A>T (p.Ser200=)
|
|
|
|
NM_152415.3(VPS37A):c.606G>T (p.Leu202=)
|
rs1814370834
|
|
|
NM_152415.3(VPS37A):c.623C>T (p.Thr208Ile)
|
rs757586403
|
|
|
NM_152415.3(VPS37A):c.625G>A (p.Val209Met)
|
rs1284443376
|
|
|
NM_152415.3(VPS37A):c.641C>T (p.Pro214Leu)
|
|
|
|
NM_152415.3(VPS37A):c.642+19C>G
|
|
|
|
NM_152415.3(VPS37A):c.642+7A>G
|
|
|
|
NM_152415.3(VPS37A):c.642G>A (p.Pro214=)
|
rs747596394
|
|
|
NM_152415.3(VPS37A):c.643-11C>T
|
|
|
|
NM_152415.3(VPS37A):c.644C>G (p.Thr215Arg)
|
|
|
|
NM_152415.3(VPS37A):c.656G>A (p.Gly219Asp)
|
|
|
|
NM_152415.3(VPS37A):c.660T>C (p.Phe220=)
|
|
|
|
NM_152415.3(VPS37A):c.676G>C (p.Asp226His)
|
|
|
|
NM_152415.3(VPS37A):c.685G>T (p.Asp229Tyr)
|
|
|
|
NM_152415.3(VPS37A):c.699A>G (p.Glu233=)
|
|
|
|
NM_152415.3(VPS37A):c.702C>T (p.Leu234=)
|
|
|
|
NM_152415.3(VPS37A):c.718T>A (p.Ser240Thr)
|
|
|
|
NM_152415.3(VPS37A):c.72C>T (p.Ser24=)
|
rs977660903
|
|
|
NM_152415.3(VPS37A):c.735G>A (p.Met245Ile)
|
|
|
|
NM_152415.3(VPS37A):c.737A>T (p.Asn246Ile)
|
|
|
|
NM_152415.3(VPS37A):c.751G>A (p.Val251Ile)
|
|
|
|
NM_152415.3(VPS37A):c.75C>G (p.Leu25=)
|
|
|
|
NM_152415.3(VPS37A):c.777G>A (p.Leu259=)
|
|
|
|
NM_152415.3(VPS37A):c.791A>G (p.Gln264Arg)
|
rs1164015467
|
|
|
NM_152415.3(VPS37A):c.801C>T (p.Thr267=)
|
|
|
|
NM_152415.3(VPS37A):c.817G>A (p.Val273Ile)
|
|
|
|
NM_152415.3(VPS37A):c.821A>G (p.Lys274Arg)
|
|
|
|
NM_152415.3(VPS37A):c.827T>C (p.Ile276Thr)
|
|
|
|
NM_152415.3(VPS37A):c.834A>G (p.Glu278=)
|
rs541623528
|
|
|
NM_152415.3(VPS37A):c.841+12C>T
|
|
|
|
NM_152415.3(VPS37A):c.841+16C>T
|
|
|
|
NM_152415.3(VPS37A):c.841+19G>T
|
|
|
|
NM_152415.3(VPS37A):c.852C>A (p.Leu284=)
|
|
|
|
NM_152415.3(VPS37A):c.865A>C (p.Ser289Arg)
|
|
|
|
NM_152415.3(VPS37A):c.874G>T (p.Ala292Ser)
|
rs776392994
|
|
|
NM_152415.3(VPS37A):c.882A>G (p.Arg294=)
|
|
|
|
NM_152415.3(VPS37A):c.898A>C (p.Lys300Gln)
|
|
|
|
NM_152415.3(VPS37A):c.901-18T>C
|
|
|
|
NM_152415.3(VPS37A):c.904G>A (p.Glu302Lys)
|
|
|
|
NM_152415.3(VPS37A):c.912T>C (p.Leu304=)
|
|
|
|
NM_152415.3(VPS37A):c.915A>G (p.Thr305=)
|
|
|
|
NM_152415.3(VPS37A):c.950G>C (p.Arg317Thr)
|
|
|
|
NM_152415.3(VPS37A):c.96G>T (p.Leu32=)
|
rs199577037
|
|
|
NM_152415.3(VPS37A):c.975T>C (p.Cys325=)
|
|
|
|
NM_152415.3(VPS37A):c.989T>G (p.Leu330Arg)
|
|
|
|
NM_178014.4(TUBB):c.[58-574C>A;58-593_58-575del]
|
|
|
|
NM_178554.6(KY):c.51_52insTATCGACATGTGCTGTATCTATCGACAT (p.Val18fs)
|
rs1085307110
|
|
|
NM_181882.3(PRX):c.4059GGA[6] (p.Glu1361del)
|
rs139624657
|
|
|
NM_183075.3(CYP2U1):c.*132G>T
|
rs80203932
|
|
|
NM_183075.3(CYP2U1):c.1001del (p.Asn334fs)
|
|
|
|
NM_183075.3(CYP2U1):c.1084_1088del (p.Leu362fs)
|
|
|
|
NM_183075.3(CYP2U1):c.1139A>G (p.Glu380Gly)
|
rs397514514
|
|
|
NM_183075.3(CYP2U1):c.1168C>T (p.Arg390Ter)
|
rs772400670
|
|
|
NM_183075.3(CYP2U1):c.1172C>T (p.Ala391Val)
|
rs868605672
|
|
|
NM_183075.3(CYP2U1):c.118T>C (p.Cys40Arg)
|
rs1274337276
|
|
|
NM_183075.3(CYP2U1):c.1210_1211del (p.Glu404fs)
|
rs767024102
|
|
|
NM_183075.3(CYP2U1):c.1281G>T (p.Glu427Asp)
|
rs2126201147
|
|
|
NM_183075.3(CYP2U1):c.1288+1G>A
|
rs781551534
|
|
|
NM_183075.3(CYP2U1):c.1348C>A (p.His450Asn)
|
rs2126202687
|
|
|
NM_183075.3(CYP2U1):c.1355A>T (p.Asp452Val)
|
|
|
|
NM_183075.3(CYP2U1):c.1391C>G (p.Pro464Arg)
|
rs2126202736
|
|
|
NM_183075.3(CYP2U1):c.1459A>G (p.Lys487Glu)
|
rs2126203302
|
|
|
NM_183075.3(CYP2U1):c.1463G>A (p.Arg488Gln)
|
rs762873672
|
|
|
NM_183075.3(CYP2U1):c.1469G>A (p.Cys490Tyr)
|
rs1468917268
|
|
|
NM_183075.3(CYP2U1):c.1547del (p.Pro516fs)
|
|
|
|
NM_183075.3(CYP2U1):c.1586G>A (p.Gly529Asp)
|
|
|
|
NM_183075.3(CYP2U1):c.1A>C (p.Met1Leu)
|
rs773841071
|
|
|
NM_183075.3(CYP2U1):c.311_336dup (p.Val113delinsArgCysSerTrpLeuThrTer)
|
rs1733002976
|
|
|
NM_183075.3(CYP2U1):c.343G>C (p.Gly115Arg)
|
|
|
|
NM_183075.3(CYP2U1):c.367_375del (p.Gly123_Tyr125del)
|
rs2126188525
|
|
|
NM_183075.3(CYP2U1):c.41del (p.Pro14fs)
|
rs2126187981
|
|
|
NM_183075.3(CYP2U1):c.426G>T (p.Gln142His)
|
rs771474750
|
|
|
NM_183075.3(CYP2U1):c.452C>T (p.Pro151Leu)
|
rs761575210
|
|
|
NM_183075.3(CYP2U1):c.471del (p.Ile158fs)
|
rs768640920
|
|
|
NM_183075.3(CYP2U1):c.488A>T (p.Lys163Met)
|
rs1382348931
|
|
|
NM_183075.3(CYP2U1):c.533G>C (p.Arg178Thr)
|
|
|
|
NM_183075.3(CYP2U1):c.61_73del (p.Leu21fs)
|
|
|
|
NM_183075.3(CYP2U1):c.640G>T (p.Gly214Ter)
|
|
|
|
NM_183075.3(CYP2U1):c.739_742del (p.Glu247fs)
|
rs1248632205
|
|
|
NM_183075.3(CYP2U1):c.784T>C (p.Cys262Arg)
|
rs397514515
|
|
|
NM_183075.3(CYP2U1):c.808dup (p.Val270fs)
|
rs2126199411
|
|
|
NM_183075.3(CYP2U1):c.898_899insCA (p.Lys300fs)
|
|
|
|
NM_183075.3(CYP2U1):c.913C>T (p.His305Tyr)
|
|
|
|
NM_183075.3(CYP2U1):c.925C>T (p.Leu309=)
|
rs2126199509
|
|
|
NM_183075.3(CYP2U1):c.943C>T (p.Gln315Ter)
|
rs1553937522
|
|
|
NM_183075.3(CYP2U1):c.947A>T (p.Asp316Val)
|
rs397514513
|
|
|
NM_183075.3(CYP2U1):c.986G>T (p.Arg329Met)
|
rs778415352
|
|
|
Single allele
|
|
|
|
g.96677_99386del2710
|
|
|