NM_198578.4(LRRK2):c.3021= (p.Ser1007=)
|
rs55783828
|
0.99994
|
NM_198578.4(LRRK2):c.364= (p.Leu122=)
|
rs41286468
|
0.99974
|
NM_198578.4(LRRK2):c.825= (p.His275=)
|
rs72546315
|
0.99959
|
NM_198578.4(LRRK2):c.1383= (p.Ser461=)
|
rs35847451
|
0.99953
|
NM_025243.4(SLC19A3):c.*2109C>T
|
rs7593437
|
0.99641
|
NM_198578.4(LRRK2):c.867= (p.Asn289=)
|
rs17490713
|
0.98818
|
NM_001044.5(SLC6A3):c.1498+14A>G
|
rs429699
|
0.98180
|
NM_018206.6(VPS35):c.1938C>T (p.His646=)
|
rs168745
|
0.97484
|
NM_198578.4(LRRK2):c.149G>A (p.Arg50His)
|
rs2256408
|
0.96952
|
NM_003054.6(SLC18A2):c.-15-39A>C
|
rs2619094
|
0.94938
|
NM_020702.5(MYORG):c.159C>G (p.Asp53Glu)
|
rs4879781
|
0.94274
|
NM_152296.5(ATP1A3):c.666T>G (p.Thr222=)
|
rs2217342
|
0.93139
|
NM_003054.6(SLC18A2):c.700+15C>T
|
rs2072362
|
0.90152
|
NM_018713.3(SLC30A10):c.*744G>T
|
rs2275707
|
0.85264
|
NM_032409.3(PINK1):c.*181C>G
|
rs513414
|
0.84999
|
NM_032409.3(PINK1):c.*37A>T
|
rs686658
|
0.84751
|
NM_032409.3(PINK1):c.960-5G>A
|
rs3131713
|
0.83971
|
NM_032409.3(PINK1):c.388-7A>G
|
rs2298298
|
0.83839
|
NM_198241.3(EIF4G1):c.1294A>G (p.Met432Val)
|
rs2178403
|
0.80731
|
NM_022089.4(ATP13A2):c.1195+66A>G
|
rs9435736
|
0.80687
|
NM_198241.3(EIF4G1):c.3953+9A>G
|
rs939317
|
0.80145
|
NM_021074.5(NDUFV2):c.86T>C (p.Val29Ala)
|
rs906807
|
0.78836
|
NM_003054.6(SLC18A2):c.791-42C>A
|
rs363343
|
0.74530
|
NM_003719.5(PDE8B):c.1764A>G (p.Glu588=)
|
rs335614
|
0.70706
|
NM_198578.4(LRRK2):c.4872C>A (p.Gly1624=)
|
rs1427263
|
0.70218
|
NM_152296.5(ATP1A3):c.*39C>G
|
rs919390
|
0.69962
|
NM_001256864.2(DNAJC6):c.2010A>C (p.Pro670=)
|
rs4582839
|
0.69474
|
NM_001103146.3(GIGYF2):c.2940A>G (p.Gln980=)
|
rs3816334
|
0.69457
|
NM_001103146.3(GIGYF2):c.3684+15G>A
|
rs6437074
|
0.69433
|
NM_001135674.2(SMIM19):c.-517C>T
|
rs2923444
|
0.68776
|
NM_020821.3(VPS13C):c.2921G>A (p.Arg974Lys)
|
rs3784634
|
0.66808
|
NM_007262.5(PARK7):c.-99T>C
|
rs226249
|
0.66453
|
NM_001103146.3(GIGYF2):c.3461-9G>A
|
rs2305137
|
0.66032
|
NM_001103146.3(GIGYF2):c.3630_3632del (p.Gln1216del)
|
rs10555297
|
0.62170
|
NM_003719.5(PDE8B):c.*64G>A
|
rs40594
|
0.61909
|
NM_198578.4(LRRK2):c.*979T>C
|
rs10784548
|
0.61859
|
NM_198578.4(LRRK2):c.*736G>C
|
rs1365770
|
0.61834
|
NM_198578.4(LRRK2):c.7190T>C (p.Met2397Thr)
|
rs3761863
|
0.61824
|
NM_198578.4(LRRK2):c.*384C>T
|
rs3886747
|
0.61718
|
NM_198578.4(LRRK2):c.*364A>C
|
rs10878441
|
0.61691
|
NM_020821.3(VPS13C):c.7638+38C>T
|
rs963024
|
0.61010
|
NM_001256864.2(DNAJC6):c.194-21G>T
|
rs2296478
|
0.58031
|
NM_001256864.2(DNAJC6):c.194-19T>G
|
rs2296479
|
0.57220
|
NM_198578.4(LRRK2):c.4911A>G (p.Lys1637=)
|
rs11176013
|
0.56443
|
NM_020821.3(VPS13C):c.6038+16G>A
|
rs9788670
|
0.56416
|
NM_198578.4(LRRK2):c.5457T>C (p.Gly1819=)
|
rs10878371
|
0.56374
|
NM_032409.3(PINK1):c.*265G>T
|
rs512550
|
0.56246
|
NM_022089.4(ATP13A2):c.705+228A>G
|
rs2871776
|
0.56136
|
NM_022089.4(ATP13A2):c.1815C>T (p.Pro605=)
|
rs2076603
|
0.55111
|
NM_020821.3(VPS13C):c.10338+34C>T
|
rs12708469
|
0.54085
|
NM_020821.3(VPS13C):c.8738G>A (p.Ser2913Asn)
|
rs10851704
|
0.54075
|
NM_020821.3(VPS13C):c.283+29A>G
|
rs2414758
|
0.53243
|
NM_198578.4(LRRK2):c.5949-2490G>A
|
rs6581668
|
0.50703
|
NM_198578.4(LRRK2):c.457T>C (p.Leu153=)
|
rs10878245
|
0.50692
|
NM_002609.4(PDGFRB):c.364+44C>T
|
rs740750
|
0.47472
|
NM_003719.5(PDE8B):c.*512T>C
|
rs460267
|
0.45685
|
NM_001256864.2(DNAJC6):c.1500G>A (p.Glu500=)
|
rs4325172
|
0.44325
|
NM_022089.4(ATP13A2):c.2970G>A (p.Val990=)
|
rs761421
|
0.41522
|
NM_022089.4(ATP13A2):c.3236-30C>T
|
rs2076605
|
0.41484
|
NM_012179.4(FBXO7):c.345G>A (p.Met115Ile)
|
rs11107
|
0.40992
|
NM_012179.4(FBXO7):c.949C>T (p.Leu317=)
|
rs9726
|
0.40979
|
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_022089.4(ATP13A2):c.2637C>T (p.Gly879=)
|
rs9435662
|
0.40757
|
NM_006186.4(NR4A2):c.*331T>G
|
rs12803
|
0.39211
|
NM_025243.4(SLC19A3):c.*1815A>C
|
rs34020562
|
0.38247
|
NM_198578.4(LRRK2):c.7190= (p.Met2397=)
|
rs3761863
|
0.38176
|
NM_002609.4(PDGFRB):c.3137+4A>G
|
rs246391
|
0.38064
|
NM_004562.3(PRKN):c.*2480C>A
|
rs68121389
|
0.37695
|
NM_002609.4(PDGFRB):c.3252A>G (p.Pro1084=)
|
rs246388
|
0.36918
|
NM_001044.5(SLC6A3):c.1215A>G (p.Ser405=)
|
rs6347
|
0.32752
|
NM_198578.4(LRRK2):c.1102-10C>A
|
rs7955902
|
0.31995
|
NM_001044.5(SLC6A3):c.*35T>C
|
rs1042098
|
0.31144
|
NM_001044.5(SLC6A3):c.419-12C>A
|
rs460000
|
0.30619
|
NM_203446.3(SYNJ1):c.884A>G (p.Lys295Arg)
|
rs2254562
|
0.29094
|
NM_203446.3(SYNJ1):c.3518-7G>T
|
rs2833929
|
0.28042
|
NM_032409.3(PINK1):c.*672T>C
|
rs2078073
|
0.27437
|
NM_032409.3(PINK1):c.*564T>G
|
rs1043502
|
0.27404
|
NM_032409.3(PINK1):c.1562A>C (p.Asn521Thr)
|
rs1043424
|
0.27338
|
NM_032409.3(PINK1):c.*196T>C
|
rs1043443
|
0.27336
|
NM_198578.4(LRRK2):c.4939T>A (p.Ser1647Thr)
|
rs11564148
|
0.26687
|
NM_198578.4(LRRK2):c.6324G>A (p.Glu2108=)
|
rs10878405
|
0.26650
|
NM_002609.4(PDGFRB):c.2601A>G (p.Leu867=)
|
rs246395
|
0.26470
|
NM_001256864.2(DNAJC6):c.544-9C>T
|
rs2296481
|
0.25003
|
NM_022089.4(ATP13A2):c.3084-3C>T
|
rs7531163
|
0.23688
|
NM_003719.5(PDE8B):c.*516A>G
|
rs459366
|
0.23685
|
NM_020702.5(MYORG):c.1154T>A (p.Phe385Tyr)
|
rs7852399
|
0.22664
|
NM_003690.5(PRKRA):c.*313G>A
|
rs3997879
|
0.22352
|
NM_003690.5(PRKRA):c.*158A>G
|
rs3997877
|
0.22348
|
NM_003690.5(PRKRA):c.685C>T (p.Leu229=)
|
rs62176107
|
0.22118
|
NM_003690.5(PRKRA):c.*553A>G
|
rs3997881
|
0.21501
|
NM_003690.5(PRKRA):c.*198C>T
|
rs3997878
|
0.21384
|
NM_003690.5(PRKRA):c.*3C>T
|
rs3997876
|
0.21371
|
NM_001256864.2(DNAJC6):c.2183G>A (p.Ser728Asn)
|
rs4915691
|
0.20494
|
NM_022089.4(ATP13A2):c.2790G>A (p.Ser930=)
|
rs3738815
|
0.20463
|
NM_001257180.2(SLC20A2):c.*1057C>G
|
rs6841
|
0.20257
|
NM_012179.4(FBXO7):c.122+272T>G
|
rs8137714
|
0.19102
|
NM_001103146.3(GIGYF2):c.3651G>A (p.Pro1217=)
|
rs12328151
|
0.17959
|
NM_001256864.2(DNAJC6):c.1983T>C (p.Ser661=)
|
rs12077111
|
0.17885
|
NM_001256864.2(DNAJC6):c.1506C>T (p.His502=)
|
rs11208644
|
0.17883
|
NM_203446.3(SYNJ1):c.3588+14C>T
|
rs11702774
|
0.16837
|
NM_003690.5(PRKRA):c.-24G>A
|
rs62176113
|
0.15636
|
NM_004181.5(UCHL1):c.53C>A (p.Ser18Tyr)
|
rs5030732
|
0.15471
|
NM_032409.3(PINK1):c.189C>T (p.Leu63=)
|
rs45530340
|
0.15436
|
NM_012179.4(FBXO7):c.-184C>T
|
rs11538371
|
0.15154
|
NM_001377265.1(MAPT):c.220+2535A>G
|
rs1800547
|
0.14618
|
NM_032409.3(PINK1):c.*415C>G
|
rs8064
|
0.14517
|
NM_198578.4(LRRK2):c.*96T>C
|
rs66737902
|
0.13862
|
NM_003690.5(PRKRA):c.677T>A (p.Ile226Asn)
|
rs77419724
|
0.13676
|
NM_004562.3(PRKN):c.*2021G>A
|
rs1122470
|
0.12415
|
NM_004562.3(PRKN):c.*652C>T
|
rs71653629
|
0.11674
|
NM_004181.5(UCHL1):c.-24A>G
|
rs11556271
|
0.11322
|
NM_198578.4(LRRK2):c.7155A>G (p.Gly2385=)
|
rs33962975
|
0.11278
|
NM_181575.5(AUP1):c.129C>G (p.Leu43=)
|
rs1183739
|
0.11203
|
NM_003719.5(PDE8B):c.*63C>T
|
rs62362531
|
0.11095
|
NM_198578.4(LRRK2):c.1653C>G (p.Asn551Lys)
|
rs7308720
|
0.10004
|
NM_004082.5(DCTN1):c.3610-20C>G
|
rs2268427
|
0.09345
|
NM_002609.4(PDGFRB):c.3090C>T (p.Pro1030=)
|
rs2228440
|
0.09078
|
NM_001257180.2(SLC20A2):c.*570G>T
|
rs1803657
|
0.09069
|
NM_001044.5(SLC6A3):c.286+20C>G
|
rs8179023
|
0.09016
|
NM_025243.4(SLC19A3):c.1049T>C (p.Val350Ala)
|
rs34507036
|
0.09001
|
NM_198578.4(LRRK2):c.2857T>C (p.Leu953=)
|
rs7966550
|
0.08994
|
NM_198241.3(EIF4G1):c.3325+16C>T
|
rs2293605
|
0.08976
|
NM_203446.3(SYNJ1):c.1201-3A>T
|
rs844988
|
0.08382
|
NM_004562.3(PRKN):c.*1296A>G
|
rs3734464
|
0.08312
|
NM_025243.4(SLC19A3):c.*1090G>A
|
rs78560894
|
0.08018
|
NM_025243.4(SLC19A3):c.*1996T>C
|
rs111409314
|
0.08003
|
NM_001103146.3(GIGYF2):c.1554G>A (p.Glu518=)
|
rs2305138
|
0.07960
|
NM_025243.4(SLC19A3):c.*203C>T
|
rs80307329
|
0.07960
|
NM_025243.4(SLC19A3):c.*1427T>C
|
rs12105610
|
0.07956
|
NM_025243.4(SLC19A3):c.*1000A>G
|
rs111467219
|
0.07952
|
NM_025243.4(SLC19A3):c.*1684A>G
|
rs12105737
|
0.07950
|
NM_025243.4(SLC19A3):c.*1813A>G
|
rs76100632
|
0.07950
|
NM_025243.4(SLC19A3):c.*1839G>A
|
rs74372767
|
0.07948
|
NM_025243.4(SLC19A3):c.*1974G>T
|
rs1134282
|
0.07946
|
NM_025243.4(SLC19A3):c.*2130T>C
|
rs114055204
|
0.07935
|
NM_025243.4(SLC19A3):c.*2132T>C
|
rs115320284
|
0.07932
|
NM_025243.4(SLC19A3):c.*1953G>A
|
rs113979210
|
0.07926
|
NM_025243.4(SLC19A3):c.*1963C>T
|
rs1134281
|
0.07914
|
NM_001044.5(SLC6A3):c.810C>T (p.Ala270=)
|
rs6348
|
0.07818
|
NM_203446.3(SYNJ1):c.3721C>T (p.Leu1241=)
|
rs2230766
|
0.07370
|
NM_001257180.2(SLC20A2):c.*361A>G
|
rs3763510
|
0.07343
|
NM_025243.4(SLC19A3):c.*1740G>C
|
rs12105323
|
0.07249
|
NM_002609.4(PDGFRB):c.85A>T (p.Ile29Phe)
|
rs17110944
|
0.07088
|
NM_003690.5(PRKRA):c.*655T>C
|
rs4533501
|
0.06663
|
NM_003719.5(PDE8B):c.*456A>G
|
rs16874261
|
0.06538
|
NM_198578.4(LRRK2):c.4269G>A (p.Lys1423=)
|
rs11175964
|
0.05959
|
NM_020821.3(VPS13C):c.3905A>G (p.Tyr1302Cys)
|
rs2303405
|
0.05935
|
NM_007262.5(PARK7):c.323-14A>G
|
rs72854882
|
0.05780
|
NM_001044.5(SLC6A3):c.114C>T (p.Asn38=)
|
rs6350
|
0.05616
|
NM_019851.3(FGF20):c.*182C>T
|
rs12720208
|
0.05484
|
NM_001257180.2(SLC20A2):c.910G>A (p.Gly304Ser)
|
rs73675069
|
0.05347
|
NM_003690.5(PRKRA):c.173A>G (p.Asp58Gly)
|
rs61999302
|
0.05287
|
NM_004562.3(PRKN):c.500G>A (p.Ser167Asn)
|
rs1801474
|
0.05277
|
NM_004181.5(UCHL1):c.45+6T>C
|
rs11556273
|
0.05228
|
NM_007262.5(PARK7):c.-70C>T
|
rs11121064
|
0.05022
|
NM_003690.5(PRKRA):c.549T>C (p.Asn183=)
|
rs61746229
|
0.04819
|
NM_000345.4(SNCA):c.*501C>T
|
rs17016074
|
0.04776
|
NM_198578.4(LRRK2):c.2167A>G (p.Ile723Val)
|
rs10878307
|
0.04677
|
NM_003690.5(PRKRA):c.1A>C (p.Met1Leu)
|
rs9406386
|
0.04659
|
NM_032409.3(PINK1):c.1018G>A (p.Ala340Thr)
|
rs3738136
|
0.04637
|
NM_025243.4(SLC19A3):c.435C>T (p.Ser145=)
|
rs76517176
|
0.04500
|
NM_025243.4(SLC19A3):c.549T>C (p.Ala183=)
|
rs74693100
|
0.04490
|
NM_198578.4(LRRK2):c.-124G>C
|
rs112643657
|
0.04210
|
NM_007262.5(PARK7):c.-22C>T
|
rs11548933
|
0.04157
|
NM_022089.4(ATP13A2):c.*124C>T
|
rs15786
|
0.04122
|
NM_004082.5(DCTN1):c.1605A>G (p.Thr535=)
|
rs13429423
|
0.04117
|
NM_001044.5(SLC6A3):c.150G>T (p.Pro50=)
|
rs6346
|
0.04096
|
NM_004562.3(PRKN):c.*2492A>G
|
rs117341007
|
0.04051
|
NM_022089.4(ATP13A2):c.1005C>T (p.Ala335=)
|
rs56290406
|
0.04044
|
NM_025243.4(SLC19A3):c.-2-10A>G
|
rs6728344
|
0.03969
|
NM_004082.5(DCTN1):c.859C>A (p.Leu287Met)
|
rs13420401
|
0.03855
|
NM_001377265.1(MAPT):c.914A>G (p.Gln305Arg)
|
rs63750072
|
0.03830
|
NM_004562.3(PRKN):c.*320C>A
|
rs71653628
|
0.03819
|
NM_022089.4(ATP13A2):c.3144C>G (p.Thr1048=)
|
rs56126202
|
0.03793
|
NM_032409.3(PINK1):c.344A>T (p.Gln115Leu)
|
rs148871409
|
0.03666
|
NM_025243.4(SLC19A3):c.*2104T>C
|
rs1055957
|
0.03534
|
NM_007262.5(PARK7):c.234C>T (p.Gly78=)
|
rs11548937
|
0.03501
|
NM_004562.3(PRKN):c.111G>A (p.Pro37=)
|
rs77795533
|
0.03342
|
NM_013247.5(HTRA2):c.*94C>T
|
rs79220020
|
0.03334
|
NM_012179.4(FBXO7):c.540A>G (p.Pro180=)
|
rs41311141
|
0.03327
|
NM_203446.3(SYNJ1):c.479+9A>G
|
rs76502784
|
0.03297
|
NM_025243.4(SLC19A3):c.520G>A (p.Val174Ile)
|
rs59736804
|
0.03276
|
NM_003719.5(PDE8B):c.*70C>T
|
rs78676901
|
0.03231
|
NM_012084.4(GLUD2):c.1492T>G (p.Ser498Ala)
|
rs9697983
|
0.03160
|
NM_198578.4(LRRK2):c.4624C>T (p.Pro1542Ser)
|
rs33958906
|
0.03091
|
NM_198578.3(LRRK2):c.149A>G (p.His50Arg)
|
rs2256408
|
0.03048
|
NM_001256864.2(DNAJC6):c.194-20_194-19insG
|
rs111346712
|
0.03019
|
NM_198578.4(LRRK2):c.*1446T>A
|
rs12422278
|
0.02939
|
NM_001044.5(SLC6A3):c.1731C>T (p.Ala577=)
|
rs6349
|
0.02926
|
NM_025243.4(SLC19A3):c.*506C>T
|
rs115182620
|
0.02815
|
NM_001044.5(SLC6A3):c.1527G>A (p.Gln509=)
|
rs6880875
|
0.02803
|
NM_025243.4(SLC19A3):c.*1925A>G
|
rs76014609
|
0.02668
|
NM_002609.4(PDGFRB):c.1391C>T (p.Thr464Met)
|
rs74943037
|
0.02595
|
NM_004562.3(PRKN):c.1180G>A (p.Asp394Asn)
|
rs1801334
|
0.02570
|
NM_003719.5(PDE8B):c.1366-5G>A
|
rs79008179
|
0.02537
|
NM_018206.6(VPS35):c.1938= (p.His646=)
|
rs168745
|
0.02516
|
NM_004562.3(PRKN):c.*94A>G
|
rs62637702
|
0.02462
|
NM_022089.4(ATP13A2):c.3235+17G>A
|
rs56146840
|
0.02453
|
NM_004562.3(PRKN):c.*820A>T
|
rs74701717
|
0.02439
|
NM_002609.4(PDGFRB):c.1854G>A (p.Thr618=)
|
rs56072663
|
0.02433
|
NM_001135674.2(SMIM19):c.-288T>A
|
rs113755761
|
0.02320
|
NM_004082.5(DCTN1):c.*21C>T
|
rs11555696
|
0.02286
|
NM_032409.3(PINK1):c.*490A>C
|
rs16824318
|
0.02268
|
NM_032603.5(LOXL3):c.*237G>T
|
rs71640295
|
0.02253
|
NM_018713.3(SLC30A10):c.*276C>T
|
rs138571819
|
0.02157
|
NM_003690.5(PRKRA):c.609+20A>G
|
rs73973115
|
0.02096
|
NM_003690.5(PRKRA):c.*200G>A
|
rs141995027
|
0.01989
|
NM_002609.4(PDGFRB):c.1453G>A (p.Glu485Lys)
|
rs41287110
|
0.01976
|
NM_003719.5(PDE8B):c.*480T>G
|
rs72769019
|
0.01962
|
NM_001257180.2(SLC20A2):c.1011C>A (p.Thr337=)
|
rs116359869
|
0.01957
|
NM_001257180.2(SLC20A2):c.1254C>T (p.Gly418=)
|
rs115234947
|
0.01931
|
NM_003719.5(PDE8B):c.*437A>G
|
rs3733953
|
0.01915
|
NM_004082.5(DCTN1):c.2448A>G (p.Ala816=)
|
rs1130484
|
0.01851
|
NM_004562.3(PRKN):c.574A>C (p.Met192Leu)
|
rs9456735
|
0.01850
|
NM_001256864.2(DNAJC6):c.678G>A (p.Ala226=)
|
rs61753391
|
0.01829
|
NM_013247.5(HTRA2):c.480C>G (p.Ala160=)
|
rs2231248
|
0.01771
|
NM_003719.5(PDE8B):c.*1128A>G
|
rs55841084
|
0.01768
|
NM_018713.3(SLC30A10):c.-54C>A
|
rs115645353
|
0.01743
|
NM_013247.5(HTRA2):c.421G>T (p.Ala141Ser)
|
rs72470544
|
0.01709
|
NM_012179.4(FBXO7):c.968-14T>G
|
rs77327421
|
0.01681
|
NM_198578.4(LRRK2):c.6844-14_6844-13insA
|
rs150964683
|
0.01681
|
NM_032409.3(PINK1):c.*40G>A
|
rs115768147
|
0.01678
|
NM_025243.4(SLC19A3):c.42C>T (p.Tyr14=)
|
rs34080459
|
0.01664
|
NM_152296.5(ATP1A3):c.994-20T>G
|
rs138485069
|
0.01603
|
NM_004562.3(PRKN):c.*1695G>A
|
rs77283740
|
0.01596
|
NM_003719.5(PDE8B):c.552T>C (p.His184=)
|
rs971647
|
0.01569
|
NM_006186.4(NR4A2):c.-223C>T
|
rs114461423
|
0.01558
|
NM_004562.3(PRKN):c.*2518A>G
|
rs16892479
|
0.01555
|
NM_198578.4(LRRK2):c.1182-4A>G
|
rs7135747
|
0.01555
|
NM_001257180.2(SLC20A2):c.*380C>T
|
rs72643203
|
0.01547
|
NM_001257180.2(SLC20A2):c.1438G>A (p.Ala480Thr)
|
rs79577461
|
0.01539
|
NM_198578.4(LRRK2):c.4317+12del
|
rs200829235
|
0.01470
|
NM_198241.3(EIF4G1):c.4251C>T (p.Val1417=)
|
rs76779558
|
0.01418
|
NM_032603.5(LOXL3):c.*90T>C
|
rs114661282
|
0.01397
|
NM_198578.4(LRRK2):c.3778-9C>T
|
rs114948984
|
0.01375
|
NM_203446.3(SYNJ1):c.3915+5G>T
|
rs61750220
|
0.01369
|
NM_001256864.2(DNAJC6):c.1710G>A (p.Pro570=)
|
rs7551930
|
0.01341
|
NM_004562.3(PRKN):c.783A>G (p.Leu261=)
|
rs9456711
|
0.01329
|
NM_004082.5(DCTN1):c.1484G>A (p.Arg495Gln)
|
rs17721059
|
0.01316
|
NM_198578.4(LRRK2):c.5509+20A>C
|
rs11564134
|
0.01309
|
NM_152296.5(ATP1A3):c.*106T>C
|
rs180885057
|
0.01288
|
NM_004082.5(DCTN1):c.1288-3C>T
|
rs72466490
|
0.01285
|
NM_198578.4(LRRK2):c.6241A>G (p.Asn2081Asp)
|
rs33995883
|
0.01276
|
NM_022089.4(ATP13A2):c.1617G>T (p.Leu539=)
|
rs61739752
|
0.01259
|
NM_001257180.2(SLC20A2):c.290-13C>A
|
rs114824268
|
0.01256
|
NM_152296.5(ATP1A3):c.2319T>C (p.Asn773=)
|
rs61733017
|
0.01238
|
NM_032409.3(PINK1):c.1426G>A (p.Glu476Lys)
|
rs115477764
|
0.01222
|
NM_004082.5(DCTN1):c.34-11G>T
|
rs73948789
|
0.01216
|
NM_004562.3(PRKN):c.*1694C>T
|
rs16892481
|
0.01212
|
NM_022089.4(ATP13A2):c.881G>A (p.Arg294Gln)
|
rs56367069
|
0.01203
|
NM_152296.5(ATP1A3):c.2264-16C>T
|
rs149116776
|
0.01189
|
NM_198578.4(LRRK2):c.867C>T (p.Asn289=)
|
rs17490713
|
0.01182
|
NM_004562.3(PRKN):c.*1252C>T
|
rs77926621
|
0.01179
|
NM_032409.3(PINK1):c.*349G>C
|
rs114112086
|
0.01178
|
NM_032409.3(PINK1):c.1173T>C (p.Asp391=)
|
rs45499398
|
0.01177
|
NM_001256864.2(DNAJC6):c.1456C>T (p.Leu486Phe)
|
rs78141380
|
0.01170
|
NM_025243.4(SLC19A3):c.979+19A>G
|
rs112669453
|
0.01129
|
NM_001382273.1(TNK2):c.2675G>A (p.Arg892His)
|
rs112384084
|
0.01127
|
NM_000157.4(GBA1):c.1093G>A (p.Glu365Lys)
|
rs2230288
|
0.01061
|
NM_198578.4(LRRK2):c.4937T>C (p.Met1646Thr)
|
rs35303786
|
0.01047
|
NM_022089.4(ATP13A2):c.2763-16G>A
|
rs114407349
|
0.01044
|
NM_003690.5(PRKRA):c.*159T>C
|
rs115244185
|
0.01037
|
NM_198578.4(LRRK2):c.*1464T>G
|
rs17491828
|
0.01033
|
NM_198578.4(LRRK2):c.*1482A>G
|
rs17491835
|
0.01032
|
NM_004562.3(PRKN):c.957T>C (p.Gly319=)
|
rs144340740
|
0.01025
|
NM_003719.5(PDE8B):c.1267A>G (p.Ile423Val)
|
rs61999348
|
0.01007
|
NM_001044.5(SLC6A3):c.653+13C>T
|
rs16878300
|
0.00986
|
NM_003690.5(PRKRA):c.861C>T (p.Ser287=)
|
rs116833881
|
0.00976
|
NM_032409.3(PINK1):c.1502G>A (p.Arg501Gln)
|
rs61744200
|
0.00956
|
NM_203446.3(SYNJ1):c.*329G>A
|
rs61750217
|
0.00954
|
NM_000669.5(ADH1C):c.232G>T (p.Gly78Ter)
|
rs283413
|
0.00935
|
NM_018713.3(SLC30A10):c.640+10G>A
|
rs79328219
|
0.00931
|
NM_002609.4(PDGFRB):c.1761G>A (p.Leu587=)
|
rs56078873
|
0.00930
|
NM_025243.4(SLC19A3):c.*103C>A
|
rs116590386
|
0.00909
|
NM_003719.5(PDE8B):c.362G>A (p.Arg121His)
|
rs115599001
|
0.00904
|
NM_000157.4(GBA1):c.762-18T>A
|
rs140335079
|
0.00896
|
NM_025243.4(SLC19A3):c.756G>A (p.Leu252=)
|
rs12185721
|
0.00883
|
NM_025243.4(SLC19A3):c.*1792C>T
|
rs181948693
|
0.00872
|
NM_002609.4(PDGFRB):c.102C>T (p.Val34=)
|
rs17708515
|
0.00869
|
NM_001135674.2(SMIM19):c.-230G>A
|
rs145711927
|
0.00840
|
NM_002609.4(PDGFRB):c.1033C>T (p.Pro345Ser)
|
rs2229558
|
0.00834
|
NM_152296.5(ATP1A3):c.2610C>T (p.Pro870=)
|
rs35272495
|
0.00802
|
NM_020821.3(VPS13C):c.1929A>C (p.Ala643=)
|
rs115871350
|
0.00801
|
NM_002609.4(PDGFRB):c.1149G>C (p.Leu383=)
|
rs2228439
|
0.00793
|
NM_004562.3(PRKN):c.*1462C>A
|
rs11961229
|
0.00787
|
NM_004562.3(PRKN):c.*1407C>T
|
rs11961237
|
0.00780
|
NM_018206.6(VPS35):c.*283C>A
|
rs199765664
|
0.00772
|
NM_152296.5(ATP1A3):c.2487G>A (p.Pro829=)
|
rs45606534
|
0.00759
|
NM_198578.4(LRRK2):c.3784C>G (p.Pro1262Ala)
|
rs4640000
|
0.00717
|
NM_004562.3(PRKN):c.*2187C>T
|
rs116309008
|
0.00713
|
NM_000345.4(SNCA):c.*139T>G
|
rs10024743
|
0.00703
|
NM_007262.5(PARK7):c.293G>A (p.Arg98Gln)
|
rs71653619
|
0.00688
|
NM_004562.3(PRKN):c.*2354C>T
|
rs191130749
|
0.00685
|
NM_022089.4(ATP13A2):c.145G>A (p.Gly49Ser)
|
rs56379718
|
0.00681
|
NM_004562.3(PRKN):c.*2217G>A
|
rs138660139
|
0.00678
|
NM_004562.3(PRKN):c.*1909G>A
|
rs148426411
|
0.00674
|
NM_004562.3(PRKN):c.-30T>C
|
rs200065081
|
0.00671
|
NM_003690.5(PRKRA):c.795C>T (p.Ser265=)
|
rs150679361
|
0.00662
|
NM_012179.4(FBXO7):c.1125A>G (p.Leu375=)
|
rs147911892
|
0.00660
|
NM_022089.4(ATP13A2):c.3430G>A (p.Ala1144Thr)
|
rs151181674
|
0.00646
|
NM_004082.5(DCTN1):c.3529+5G>A
|
rs72466494
|
0.00644
|
NM_000157.4(GBA1):c.1223C>T (p.Thr408Met)
|
rs75548401
|
0.00627
|
NM_004562.3(PRKN):c.136G>A (p.Ala46Thr)
|
rs75860381
|
0.00621
|
NM_198578.4(LRRK2):c.4229C>T (p.Thr1410Met)
|
rs72546327
|
0.00621
|
NM_025243.4(SLC19A3):c.309G>A (p.Val103=)
|
rs142837989
|
0.00618
|
NM_004562.3(PRKN):c.*2475A>C
|
rs868117815
|
0.00611
|
NM_203446.3(SYNJ1):c.*611C>T
|
rs76056543
|
0.00609
|
NM_001044.5(SLC6A3):c.162C>T (p.Pro54=)
|
rs6351
|
0.00589
|
NM_001257180.2(SLC20A2):c.*113A>T
|
rs115989387
|
0.00586
|
NM_001257180.2(SLC20A2):c.*112G>T
|
rs114729286
|
0.00585
|
NM_022089.4(ATP13A2):c.1195+10G>A
|
rs55689004
|
0.00585
|
NM_002609.4(PDGFRB):c.365-4G>T
|
rs139448702
|
0.00583
|
NM_025243.4(SLC19A3):c.421G>A (p.Gly141Ser)
|
rs148144444
|
0.00577
|
NM_003719.5(PDE8B):c.*1590T>A
|
rs1580
|
0.00565
|
NM_198578.4(LRRK2):c.*346A>G
|
rs17520676
|
0.00565
|
NM_004181.5(UCHL1):c.558C>T (p.Gly186=)
|
rs116680633
|
0.00540
|
NM_004181.5(UCHL1):c.*309T>C
|
rs78683791
|
0.00537
|
NM_001257180.2(SLC20A2):c.909G>A (p.Ala303=)
|
rs75248974
|
0.00528
|
NM_198578.4(LRRK2):c.4541G>A (p.Arg1514Gln)
|
rs35507033
|
0.00526
|
NM_002609.4(PDGFRB):c.3119G>T (p.Gly1040Val)
|
rs149417689
|
0.00523
|
NM_022089.4(ATP13A2):c.*140C>G
|
rs557545457
|
0.00509
|
NM_022089.4(ATP13A2):c.453C>T (p.Ser151=)
|
rs55979991
|
0.00505
|
NM_001257180.2(SLC20A2):c.1008C>T (p.His336=)
|
rs111553899
|
0.00499
|
NM_198241.3(EIF4G1):c.4510C>T (p.Leu1504=)
|
rs74627110
|
0.00490
|
NM_022089.4(ATP13A2):c.2093T>C (p.Val698Ala)
|
rs61734958
|
0.00485
|
NM_007262.5(PARK7):c.*124C>T
|
rs147437667
|
0.00484
|
NM_004181.5(UCHL1):c.*276T>A
|
rs116336893
|
0.00483
|
NM_018206.6(VPS35):c.1145A>G (p.Lys382Arg)
|
rs116254156
|
0.00480
|
NM_022089.4(ATP13A2):c.132A>G (p.Pro44=)
|
rs200816691
|
0.00471
|
NM_001256864.2(DNAJC6):c.1320A>T (p.Thr440=)
|
rs142136708
|
0.00462
|
NM_004082.5(DCTN1):c.586A>G (p.Ile196Val)
|
rs55862001
|
0.00462
|
NM_203446.3(SYNJ1):c.1119-8G>T
|
rs138882423
|
0.00462
|
NM_001257180.2(SLC20A2):c.1812C>T (p.Ala604=)
|
rs116401889
|
0.00456
|
NM_004562.3(PRKN):c.458C>G (p.Pro153Arg)
|
rs55654276
|
0.00452
|
NM_203446.3(SYNJ1):c.6G>A (p.Ala2=)
|
rs61750221
|
0.00452
|
NM_007262.5(PARK7):c.166G>A (p.Ala56Thr)
|
rs114601558
|
0.00448
|
NM_203446.3(SYNJ1):c.43C>T (p.Pro15Ser)
|
rs61755328
|
0.00441
|
NM_003719.5(PDE8B):c.*1606T>C
|
rs565137946
|
0.00440
|
NM_003719.5(PDE8B):c.63C>T (p.Asp21=)
|
rs201411330
|
0.00439
|
NM_001044.5(SLC6A3):c.1413C>G (p.Val471=)
|
rs8179035
|
0.00436
|
NM_002609.4(PDGFRB):c.1376G>A (p.Arg459His)
|
rs149274963
|
0.00426
|
NM_002609.4(PDGFRB):c.1393C>T (p.Leu465=)
|
rs116171826
|
0.00425
|
NM_022089.4(ATP13A2):c.*120A>T
|
rs41273151
|
0.00422
|
NM_001257180.2(SLC20A2):c.345G>A (p.Thr115=)
|
rs34124953
|
0.00417
|
NM_003690.5(PRKRA):c.32C>T (p.Pro11Leu)
|
rs62176112
|
0.00410
|
NM_022089.4(ATP13A2):c.*231G>A
|
rs76298930
|
0.00409
|
NM_003285.3(TNR):c.496A>G (p.Thr166Ala)
|
rs147204644
|
0.00407
|
NM_012179.4(FBXO7):c.122+9G>A
|
rs192327462
|
0.00407
|
NM_203446.3(SYNJ1):c.573A>G (p.Thr191=)
|
rs61756694
|
0.00406
|
NM_001257180.2(SLC20A2):c.*263A>C
|
rs145543019
|
0.00402
|
NM_025243.4(SLC19A3):c.*1995G>A
|
rs185496445
|
0.00400
|
NM_001044.5(SLC6A3):c.546C>T (p.Asn182=)
|
rs28364996
|
0.00396
|
NM_015268.4(DNAJC13):c.3872A>G (p.Glu1291Gly)
|
rs61748101
|
0.00396
|
NM_004181.5(UCHL1):c.*294G>A
|
rs116700032
|
0.00381
|
NM_025243.4(SLC19A3):c.*348A>C
|
rs112957132
|
0.00364
|
NM_032409.3(PINK1):c.948C>T (p.Leu316=)
|
rs142183624
|
0.00363
|
NM_015836.4(WARS2):c.37T>G (p.Trp13Gly)
|
rs139548132
|
0.00360
|
NM_001256864.2(DNAJC6):c.194-5G>T
|
rs753576283
|
0.00359
|
NM_001256864.2(DNAJC6):c.745A>G (p.Ile249Val)
|
rs149588872
|
0.00357
|
NM_004562.3(PRKN):c.714C>T (p.Cys238=)
|
rs114974496
|
0.00357
|
NM_018713.3(SLC30A10):c.*847G>A
|
rs143476893
|
0.00353
|
NM_022089.4(ATP13A2):c.2724G>A (p.Ser908=)
|
rs79724242
|
0.00341
|
NM_032409.3(PINK1):c.*655T>C
|
rs141140099
|
0.00341
|
NM_198578.4(LRRK2):c.4318-6C>T
|
rs56082834
|
0.00339
|
NM_005460.4(SNCAIP):c.1861C>T (p.Arg621Cys)
|
rs28937592
|
0.00334
|
NM_003285.3(TNR):c.538A>C (p.Asn180His)
|
rs61731112
|
0.00326
|
NM_022089.4(ATP13A2):c.1614C>T (p.Pro538=)
|
rs56351817
|
0.00324
|
NM_003719.5(PDE8B):c.2274C>T (p.Cys758=)
|
rs116781254
|
0.00318
|
NM_006186.4(NR4A2):c.*352C>A
|
rs115393922
|
0.00316
|
NM_018713.3(SLC30A10):c.-87A>T
|
rs531545790
|
0.00315
|
NM_004562.3(PRKN):c.*2194G>A
|
rs149239597
|
0.00310
|
NM_004562.3(PRKN):c.101A>G (p.Gln34Arg)
|
rs148851677
|
0.00303
|
NM_002609.4(PDGFRB):c.590G>A (p.Arg197Lys)
|
rs116642123
|
0.00302
|
NM_003690.5(PRKRA):c.784+6A>T
|
rs188208530
|
0.00302
|
NM_198578.4(LRRK2):c.*1181C>T
|
rs147956597
|
0.00296
|
NM_198578.4(LRRK2):c.5163A>G (p.Ser1721=)
|
rs79909111
|
0.00293
|
NM_001257180.2(SLC20A2):c.933C>T (p.Tyr311=)
|
rs115902470
|
0.00289
|
NM_002609.4(PDGFRB):c.946G>A (p.Val316Met)
|
rs41287112
|
0.00287
|
NM_004082.5(DCTN1):c.3746C>T (p.Thr1249Ile)
|
rs72466496
|
0.00287
|
NM_203446.3(SYNJ1):c.*728C>T
|
rs2230767
|
0.00284
|
NM_012179.4(FBXO7):c.693C>T (p.Ser231=)
|
rs61752254
|
0.00283
|
NM_152296.5(ATP1A3):c.2819+20G>A
|
rs148592392
|
0.00279
|
NM_012179.4(FBXO7):c.*82G>A
|
rs147661976
|
0.00276
|
NM_007262.5(PARK7):c.252+18A>G
|
rs147308281
|
0.00275
|
NM_018206.6(VPS35):c.1398G>A (p.Thr466=)
|
rs150810185
|
0.00274
|
NM_018206.6(VPS35):c.*289C>T
|
rs145606241
|
0.00272
|
NM_004562.3(PRKN):c.48G>A (p.Glu16=)
|
rs143477190
|
0.00270
|
NM_198578.4(LRRK2):c.1000G>A (p.Glu334Lys)
|
rs78501232
|
0.00266
|
NM_025243.4(SLC19A3):c.546G>A (p.Val182=)
|
rs143188189
|
0.00263
|
NM_001257180.2(SLC20A2):c.58T>C (p.Leu20=)
|
rs115993270
|
0.00262
|
NM_002609.4(PDGFRB):c.3287C>T (p.Ala1096Val)
|
rs114435947
|
0.00259
|
NM_203446.3(SYNJ1):c.1030G>A (p.Ala344Thr)
|
rs114942253
|
0.00255
|
NM_000345.4(SNCA):c.408C>T (p.Tyr136=)
|
rs76642636
|
0.00252
|
NM_001256864.2(DNAJC6):c.194-18T>G
|
rs201249130
|
0.00252
|
NM_198578.4(LRRK2):c.5510-9A>G
|
rs41286460
|
0.00252
|
NM_004082.5(DCTN1):c.3594C>T (p.Thr1198=)
|
rs115689748
|
0.00250
|
NM_032409.3(PINK1):c.*807T>C
|
rs78349864
|
0.00250
|
NM_003719.5(PDE8B):c.-23G>T
|
rs574193520
|
0.00249
|
NM_002609.4(PDGFRB):c.945C>T (p.Tyr315=)
|
rs56069016
|
0.00247
|
NM_018713.3(SLC30A10):c.*945C>T
|
rs115277486
|
0.00246
|
NM_203446.3(SYNJ1):c.2943G>T (p.Met981Ile)
|
rs115683257
|
0.00245
|
NM_005765.3(ATP6AP2):c.38-5T>C
|
rs190477001
|
0.00243
|
NM_152296.5(ATP1A3):c.2334G>A (p.Thr778=)
|
rs145374789
|
0.00243
|
NM_003719.5(PDE8B):c.1698C>A (p.Ala566=)
|
rs140381860
|
0.00242
|
NM_203446.3(SYNJ1):c.*315G>A
|
rs145347648
|
0.00241
|
NM_001256864.2(DNAJC6):c.1492T>A (p.Cys498Ser)
|
rs145329294
|
0.00237
|
NM_000157.4(GBA1):c.1444G>A (p.Asp482Asn)
|
rs75671029
|
0.00236
|
NM_002609.4(PDGFRB):c.2523G>A (p.Lys841=)
|
rs41287108
|
0.00236
|
NM_001257180.2(SLC20A2):c.*120C>G
|
rs569568894
|
0.00235
|
NM_004562.3(PRKN):c.*1386A>G
|
rs140107485
|
0.00235
|
NM_032409.3(PINK1):c.387+14G>A
|
rs117438827
|
0.00234
|
NM_013247.5(HTRA2):c.1195G>A (p.Gly399Ser)
|
rs72470545
|
0.00231
|
NM_152296.5(ATP1A3):c.2921+11C>T
|
rs190570469
|
0.00230
|
NM_203446.3(SYNJ1):c.1546G>A (p.Val516Ile)
|
rs113708828
|
0.00230
|
NM_001044.5(SLC6A3):c.1692C>T (p.Ile564=)
|
rs28364998
|
0.00228
|
NM_022089.4(ATP13A2):c.3342C>T (p.Thr1114=)
|
rs115985012
|
0.00228
|
NM_022089.4(ATP13A2):c.1195+9C>T
|
rs117758987
|
0.00227
|
NM_004562.3(PRKN):c.823C>T (p.Arg275Trp)
|
rs34424986
|
0.00226
|
NM_004562.3(PRKN):c.*1997G>A
|
rs75529362
|
0.00224
|
NM_004562.3(PRKN):c.1310C>T (p.Pro437Leu)
|
rs149953814
|
0.00223
|
NM_025243.4(SLC19A3):c.*2139G>A
|
rs554398899
|
0.00218
|
NM_022089.4(ATP13A2):c.*130C>T
|
rs189334432
|
0.00217
|
NM_003690.5(PRKRA):c.*31G>A
|
rs372585947
|
0.00216
|
NM_152296.5(ATP1A3):c.1944-20G>T
|
rs200665663
|
0.00216
|
NM_004082.5(DCTN1):c.1617A>G (p.Glu539=)
|
rs139061654
|
0.00215
|
NM_001257180.2(SLC20A2):c.1134G>T (p.Arg378=)
|
rs114636687
|
0.00212
|
NM_001257180.2(SLC20A2):c.761G>A (p.Arg254Gln)
|
rs138816265
|
0.00210
|
NM_004082.5(DCTN1):c.2761-18C>T
|
rs549475401
|
0.00209
|
NM_001256864.2(DNAJC6):c.2254A>T (p.Thr752Ser)
|
rs113143702
|
0.00201
|
NM_013247.5(HTRA2):c.215T>C (p.Leu72Pro)
|
rs150047108
|
0.00200
|
NM_203446.3(SYNJ1):c.3590C>T (p.Thr1197Met)
|
rs145937537
|
0.00200
|
NM_022089.4(ATP13A2):c.2367C>T (p.Leu789=)
|
rs140048110
|
0.00195
|
NM_001044.5(SLC6A3):c.1398C>T (p.Asn466=)
|
rs2270912
|
0.00194
|
NM_000157.4(GBA1):c.1226A>G (p.Asn409Ser)
|
rs76763715
|
0.00191
|
NM_004562.3(PRKN):c.1204C>T (p.Arg402Cys)
|
rs55830907
|
0.00191
|
NM_152296.5(ATP1A3):c.154-5C>G
|
rs191645384
|
0.00188
|
NM_203446.3(SYNJ1):c.3369A>G (p.Pro1123=)
|
rs368850131
|
0.00183
|
NM_004082.5(DCTN1):c.2258C>T (p.Thr753Met)
|
rs143763184
|
0.00179
|
NM_001256864.2(DNAJC6):c.996-9T>C
|
rs187965193
|
0.00178
|
NM_152296.5(ATP1A3):c.2976C>T (p.Asp992=)
|
rs146199765
|
0.00177
|
NM_004606.5(TAF1):c.4708C>T (p.Leu1570=)
|
rs142496099
|
0.00176
|
NM_003690.5(PRKRA):c.-104G>A
|
rs545506202
|
0.00168
|
NM_003690.5(PRKRA):c.65+16G>A
|
rs565738732
|
0.00168
|
NM_002609.4(PDGFRB):c.1872T>C (p.His624=)
|
rs141371542
|
0.00166
|
NM_004082.5(DCTN1):c.3146G>A (p.Arg1049Gln)
|
rs72659383
|
0.00166
|
NM_004562.3(PRKN):c.*2486C>A
|
rs867195540
|
0.00164
|
NM_004562.3(PRKN):c.*15C>A
|
rs35125035
|
0.00163
|
NM_012179.4(FBXO7):c.601G>A (p.Val201Met)
|
rs61730783
|
0.00163
|
NM_022089.4(ATP13A2):c.3406-14C>T
|
rs139088170
|
0.00163
|
NM_032409.3(PINK1):c.165G>A (p.Glu55=)
|
rs537679886
|
0.00162
|
NM_002609.4(PDGFRB):c.1505G>A (p.Arg502Gln)
|
rs148974733
|
0.00159
|
NM_018206.6(VPS35):c.2241C>T (p.Ile747=)
|
rs140543776
|
0.00159
|
NM_198578.4(LRRK2):c.*123A>C
|
rs73277568
|
0.00159
|
NM_203446.3(SYNJ1):c.*4G>A
|
rs115648918
|
0.00158
|
NM_025243.4(SLC19A3):c.*231G>A
|
rs192321676
|
0.00153
|
NM_001044.5(SLC6A3):c.1839+9G>A
|
rs184515054
|
0.00152
|
NM_001044.5(SLC6A3):c.1356C>T (p.Ile452=)
|
rs115529609
|
0.00150
|
NM_025243.4(SLC19A3):c.621A>G (p.Ile207Met)
|
rs145804755
|
0.00150
|
NM_004082.5(DCTN1):c.*167C>T
|
rs142053202
|
0.00147
|
NM_032409.3(PINK1):c.1231G>A (p.Gly411Ser)
|
rs45478900
|
0.00146
|
NM_152296.5(ATP1A3):c.1943+12A>T
|
rs201197776
|
0.00146
|
NM_198578.4(LRRK2):c.225G>A (p.Ala75=)
|
rs75054132
|
0.00146
|
NM_203446.3(SYNJ1):c.*761C>T
|
rs111516740
|
0.00143
|
NM_005765.3(ATP6AP2):c.1050T>C (p.Asp350=)
|
rs79790275
|
0.00141
|
NM_198578.4(LRRK2):c.736A>C (p.Asn246His)
|
rs150050676
|
0.00141
|
NM_003719.5(PDE8B):c.*1213C>T
|
rs187090647
|
0.00140
|
NM_152296.5(ATP1A3):c.816G>A (p.Thr272=)
|
rs149898088
|
0.00140
|
NM_198578.4(LRRK2):c.356T>C (p.Leu119Pro)
|
rs33995463
|
0.00140
|
NM_025243.4(SLC19A3):c.*1696G>T
|
rs148557151
|
0.00139
|
NM_203446.3(SYNJ1):c.*223A>G
|
rs113978322
|
0.00139
|
NM_198578.4(LRRK2):c.1740A>T (p.Leu580Phe)
|
rs145906734
|
0.00132
|
NM_002609.4(PDGFRB):c.581T>C (p.Ile194Thr)
|
rs2229560
|
0.00130
|
NM_004082.5(DCTN1):c.2649C>T (p.Ser883=)
|
rs140986485
|
0.00130
|
NM_002609.4(PDGFRB):c.12G>A (p.Pro4=)
|
rs138641101
|
0.00128
|
NM_022089.4(ATP13A2):c.706-14C>T
|
rs371532404
|
0.00128
|
NM_022089.4(ATP13A2):c.2859G>A (p.Thr953=)
|
rs144557304
|
0.00127
|
NM_025243.4(SLC19A3):c.*499C>T
|
rs182183617
|
0.00127
|
NM_032409.3(PINK1):c.67G>A (p.Gly23Ser)
|
rs551542832
|
0.00125
|
NM_198578.4(LRRK2):c.5015+13T>A
|
rs142483656
|
0.00124
|
NM_025243.4(SLC19A3):c.-52T>C
|
rs572061835
|
0.00123
|
NM_022089.4(ATP13A2):c.7G>C (p.Ala3Pro)
|
rs549839037
|
0.00122
|
NM_032409.3(PINK1):c.387+20A>G
|
rs368222506
|
0.00122
|
NM_013247.5(HTRA2):c.354G>A (p.Leu118=)
|
rs199735424
|
0.00121
|
NM_198578.4(LRRK2):c.3333G>T (p.Gln1111His)
|
rs78365431
|
0.00121
|
NM_001256864.2(DNAJC6):c.194-16T>G
|
rs772643958
|
0.00119
|
NM_025243.4(SLC19A3):c.*803G>A
|
rs186279191
|
0.00118
|
NM_198578.4(LRRK2):c.2022A>C (p.Val674=)
|
rs72546319
|
0.00117
|
NM_001256864.2(DNAJC6):c.2159C>T (p.Ser720Leu)
|
rs143504255
|
0.00116
|
NM_001377265.1(MAPT):c.2074G>A (p.Val692Ile)
|
rs116733906
|
0.00116
|
NM_022089.4(ATP13A2):c.-170C>T
|
rs150122517
|
0.00116
|
NM_003719.5(PDE8B):c.1152T>C (p.Thr384=)
|
rs114017128
|
0.00115
|
NM_004562.3(PRKN):c.522C>T (p.Leu174=)
|
rs147121590
|
0.00115
|
NM_025243.4(SLC19A3):c.*1320C>T
|
rs536282437
|
0.00113
|
NM_181575.5(AUP1):c.90C>G (p.Leu30=)
|
rs376231592
|
0.00111
|
NM_006186.4(NR4A2):c.732C>A (p.Leu244=)
|
rs16840266
|
0.00110
|
NM_004181.4(UCHL1):c.-71C>G
|
rs201100258
|
0.00108
|
NM_022089.4(ATP13A2):c.2348G>A (p.Arg783Gln)
|
rs137955309
|
0.00108
|
NM_152296.5(ATP1A3):c.357C>T (p.Asn119=)
|
rs143547136
|
0.00108
|
NM_198578.4(LRRK2):c.*1402G>T
|
rs201559861
|
0.00107
|
NM_012179.4(FBXO7):c.1144+9C>T
|
rs199954341
|
0.00106
|
NM_203446.3(SYNJ1):c.3205A>G (p.Ser1069Gly)
|
rs149817769
|
0.00105
|
NM_001256864.2(DNAJC6):c.513G>A (p.Lys171=)
|
rs148204207
|
0.00101
|
NM_004562.3(PRKN):c.*106G>A
|
rs573670651
|
0.00101
|
NM_198578.4(LRRK2):c.6510C>A (p.Gly2170=)
|
rs34869625
|
0.00101
|
NM_007262.5(PARK7):c.501A>G (p.Ala167=)
|
rs71653621
|
0.00099
|
NM_004562.3(PRKN):c.*1685A>G
|
rs187134044
|
0.00098
|
NM_025243.4(SLC19A3):c.1056C>G (p.Phe352Leu)
|
rs149806390
|
0.00097
|
NM_198578.4(LRRK2):c.3777+7C>T
|
rs41286480
|
0.00097
|
NM_025243.4(SLC19A3):c.*1905G>A
|
rs140032700
|
0.00096
|
NM_000157.4(GBA1):c.1473C>T (p.Pro491=)
|
rs149257166
|
0.00094
|
NM_004082.5(DCTN1):c.280-3C>T
|
rs114364621
|
0.00094
|
NM_002609.4(PDGFRB):c.2844G>A (p.Arg948=)
|
rs55647240
|
0.00093
|
NM_018206.6(VPS35):c.834T>C (p.Thr278=)
|
rs148572750
|
0.00093
|
NM_032409.3(PINK1):c.952A>T (p.Met318Leu)
|
rs139226733
|
0.00093
|
NM_003560.4(PLA2G6):c.1615G>A (p.Gly539Ser)
|
rs143826762
|
0.00092
|
NM_000157.4(GBA1):c.1200G>A (p.Met400Ile)
|
rs149487315
|
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_032409.3(PINK1):c.936G>A (p.Arg312=)
|
rs56200357
|
0.00091
|
NM_198578.4(LRRK2):c.4827+9C>A
|
rs113735323
|
0.00091
|
NM_001044.5(SLC6A3):c.1032-18C>T
|
rs8179028
|
0.00090
|
NM_022089.4(ATP13A2):c.841-4A>G
|
rs112549590
|
0.00090
|
NM_025243.4(SLC19A3):c.*1339C>T
|
rs540235103
|
0.00090
|
NM_002609.4(PDGFRB):c.2502C>T (p.Ile834=)
|
rs143375423
|
0.00088
|
NM_203446.3(SYNJ1):c.2346G>A (p.Pro782=)
|
rs61753644
|
0.00088
|
NM_002609.4(PDGFRB):c.714C>T (p.Ile238=)
|
rs41287114
|
0.00087
|
NM_004082.5(DCTN1):c.3498G>A (p.Thr1166=)
|
rs142030960
|
0.00086
|
NM_003719.5(PDE8B):c.*1265G>A
|
rs138511945
|
0.00085
|
NM_198578.4(LRRK2):c.2378G>T (p.Arg793Met)
|
rs35173587
|
0.00085
|
NM_198578.4(LRRK2):c.347A>G (p.Gln116Arg)
|
rs144883021
|
0.00085
|
NM_198578.4(LRRK2):c.347+2T>C
|
rs141221000
|
0.00084
|
NM_003719.5(PDE8B):c.*439C>T
|
rs564968394
|
0.00083
|
NM_003719.5(PDE8B):c.2622A>G (p.Leu874=)
|
rs61735409
|
0.00081
|
NM_004181.5(UCHL1):c.370A>C (p.Met124Leu)
|
rs150601238
|
0.00081
|
NM_022089.4(ATP13A2):c.1309C>G (p.Leu437Val)
|
rs149372969
|
0.00081
|
NM_001044.5(SLC6A3):c.499C>T (p.Leu167Phe)
|
rs71653633
|
0.00080
|
NM_152296.5(ATP1A3):c.1260C>T (p.Arg420=)
|
rs113909283
|
0.00080
|
NM_018206.6(VPS35):c.*422C>A
|
rs181198454
|
0.00079
|
NM_001256864.2(DNAJC6):c.1266A>T (p.Leu422=)
|
rs61758427
|
0.00078
|
NM_003719.5(PDE8B):c.672G>A (p.Ala224=)
|
rs138641918
|
0.00078
|
NM_013247.5(HTRA2):c.627A>G (p.Arg209=)
|
rs149169879
|
0.00078
|
NM_025243.4(SLC19A3):c.*2050C>T
|
rs112640330
|
0.00078
|
NM_001256864.2(DNAJC6):c.2451T>G (p.Pro817=)
|
rs61733018
|
0.00076
|
NM_003719.5(PDE8B):c.*1575G>A
|
rs146195825
|
0.00076
|
NM_004562.3(PRKN):c.919C>T (p.Leu307=)
|
rs138920699
|
0.00076
|
NM_022089.4(ATP13A2):c.106-8G>A
|
rs200587951
|
0.00075
|
NM_032409.3(PINK1):c.1015G>A (p.Ala339Thr)
|
rs55831733
|
0.00074
|
NM_203446.3(SYNJ1):c.2120T>C (p.Ile707Thr)
|
rs147929290
|
0.00074
|
NM_025243.4(SLC19A3):c.1145G>A (p.Ser382Asn)
|
rs145288025
|
0.00073
|
NM_152296.5(ATP1A3):c.*315G>A
|
rs571857150
|
0.00073
|
NM_022089.4(ATP13A2):c.3529G>A (p.Gly1177Ser)
|
rs547860186
|
0.00072
|
NM_025243.4(SLC19A3):c.*2159G>A
|
rs537737062
|
0.00071
|
NM_003719.5(PDE8B):c.*831T>C
|
rs538996177
|
0.00070
|
NM_004082.5(DCTN1):c.1504C>A (p.Arg502Ser)
|
rs145958900
|
0.00070
|
NM_022089.4(ATP13A2):c.2942C>T (p.Thr981Met)
|
rs148201608
|
0.00070
|
NM_032409.3(PINK1):c.218C>T (p.Ser73Leu)
|
rs202048763
|
0.00070
|
NM_001044.5(SLC6A3):c.1080C>T (p.Ser360=)
|
rs142241083
|
0.00069
|
NM_002609.4(PDGFRB):c.1504C>T (p.Arg502Trp)
|
rs142992960
|
0.00069
|
NM_203446.3(SYNJ1):c.*732C>T
|
rs148676465
|
0.00068
|
NM_025243.4(SLC19A3):c.801A>G (p.Gln267=)
|
rs147205930
|
0.00067
|
NM_001257180.2(SLC20A2):c.*926C>T
|
rs575143642
|
0.00066
|
NM_003690.4(PRKRA):c.-149T>C
|
rs559331370
|
0.00066
|
NM_032409.3(PINK1):c.1075G>A (p.Ala359Thr)
|
rs76753586
|
0.00066
|
NM_198578.4(LRRK2):c.2322G>A (p.Ala774=)
|
rs146103273
|
0.00066
|
NM_152296.5(ATP1A3):c.2838C>T (p.Phe946=)
|
rs141421692
|
0.00065
|
NM_025243.4(SLC19A3):c.*1256C>T
|
rs191669498
|
0.00064
|
NM_203446.3(SYNJ1):c.*552G>A
|
rs146425050
|
0.00064
|
NM_001257180.2(SLC20A2):c.290-5T>C
|
rs371924916
|
0.00063
|
NM_002693.3(POLG):c.3131T>C (p.Val1044Ala)
|
rs150233690
|
0.00062
|
NM_025243.4(SLC19A3):c.*1800C>T
|
rs144735324
|
0.00062
|
NM_025243.4(SLC19A3):c.1132A>G (p.Ile378Val)
|
rs117864472
|
0.00062
|
NM_004082.5(DCTN1):c.1998G>A (p.Thr666=)
|
rs149900553
|
0.00061
|
NM_007262.5(PARK7):c.446A>C (p.Asp149Ala)
|
rs74315352
|
0.00061
|
NM_025243.4(SLC19A3):c.987G>A (p.Val329=)
|
rs146636922
|
0.00061
|
NM_152296.5(ATP1A3):c.192G>A (p.Arg64=)
|
rs146053862
|
0.00061
|
NM_003690.5(PRKRA):c.-124C>A
|
rs186454714
|
0.00060
|
NM_003690.5(PRKRA):c.-125G>A
|
rs190533045
|
0.00060
|
NM_018713.3(SLC30A10):c.284C>T (p.Thr95Ile)
|
rs188273166
|
0.00060
|
NM_198578.4(LRRK2):c.5606T>C (p.Met1869Thr)
|
rs35602796
|
0.00060
|
NM_001044.5(SLC6A3):c.1676C>T (p.Ala559Val)
|
rs28364997
|
0.00059
|
NM_025243.4(SLC19A3):c.187T>C (p.Tyr63His)
|
rs144817990
|
0.00059
|
NM_003719.5(PDE8B):c.2145G>A (p.Thr715=)
|
rs112049153
|
0.00058
|
NM_152296.5(ATP1A3):c.2653G>A (p.Val885Ile)
|
rs149600313
|
0.00058
|
NM_198578.4(LRRK2):c.7153G>A (p.Gly2385Arg)
|
rs34778348
|
0.00058
|
NM_001044.5(SLC6A3):c.60G>A (p.Glu20=)
|
rs115160598
|
0.00057
|
NM_001044.5(SLC6A3):c.78G>A (p.Pro26=)
|
rs144264359
|
0.00057
|
NM_001257180.2(SLC20A2):c.-89A>G
|
rs185590768
|
0.00057
|
NM_198241.3(EIF4G1):c.2979C>T (p.Arg993=)
|
rs11918961
|
0.00057
|
NM_032409.3(PINK1):c.851C>A (p.Ser284Tyr)
|
rs113092523
|
0.00056
|
NM_004562.3(PRKN):c.799T>C (p.Tyr267His)
|
rs114696251
|
0.00055
|
NM_018713.3(SLC30A10):c.*630G>A
|
rs750495262
|
0.00055
|
NM_025243.4(SLC19A3):c.18T>A (p.Thr6=)
|
rs141093593
|
0.00055
|
NM_032409.3(PINK1):c.1488+17C>T
|
rs140025459
|
0.00055
|
NM_032409.3(PINK1):c.558G>C (p.Lys186Asn)
|
rs143204084
|
0.00055
|
NM_198578.4(LRRK2):c.6566A>G (p.Tyr2189Cys)
|
rs35658131
|
0.00055
|
NM_002609.4(PDGFRB):c.2616G>A (p.Pro872=)
|
rs148709288
|
0.00054
|
NM_012179.4(FBXO7):c.1453G>A (p.Val485Ile)
|
rs141286570
|
0.00054
|
NM_018206.6(VPS35):c.-35C>T
|
rs189775907
|
0.00054
|
NM_022089.4(ATP13A2):c.106-14C>T
|
rs199706883
|
0.00054
|
NM_003719.5(PDE8B):c.1309C>T (p.Arg437Cys)
|
rs201363586
|
0.00053
|
NM_013247.5(HTRA2):c.510C>T (p.His170=)
|
rs200747610
|
0.00053
|
NM_018206.6(VPS35):c.2145A>G (p.Leu715=)
|
rs145033509
|
0.00052
|
NM_001135674.2(SMIM19):c.-433C>T
|
rs574357175
|
0.00051
|
NM_004082.5(DCTN1):c.3643C>G (p.Pro1215Ala)
|
rs184147813
|
0.00051
|
NM_022089.4(ATP13A2):c.3405+9C>T
|
rs374766933
|
0.00051
|
NM_203446.3(SYNJ1):c.3431G>A (p.Gly1144Asp)
|
rs142964720
|
0.00051
|
NM_013247.5(HTRA2):c.1155C>T (p.Pro385=)
|
rs150357486
|
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_032409.3(PINK1):c.*532G>A
|
rs190393061
|
0.00050
|
NM_152296.5(ATP1A3):c.1387C>T (p.Arg463Cys)
|
rs150785666
|
0.00050
|
NM_198578.4(LRRK2):c.*1035T>C
|
rs201488873
|
0.00050
|
NM_198578.4(LRRK2):c.4111A>G (p.Ile1371Val)
|
rs17466213
|
0.00050
|
NM_006186.4(NR4A2):c.*1249A>G
|
rs564495914
|
0.00049
|
NM_203446.3(SYNJ1):c.706-11T>C
|
rs150213884
|
0.00049
|
NM_007262.5(PARK7):c.535G>A (p.Ala179Thr)
|
rs71653622
|
0.00048
|
NM_018206.6(VPS35):c.1368+17G>A
|
rs183091274
|
0.00048
|
NM_198578.4(LRRK2):c.1383T>C (p.Ser461=)
|
rs35847451
|
0.00047
|
NM_001256864.2(DNAJC6):c.397A>T (p.Met133Leu)
|
rs61757223
|
0.00046
|
NM_004082.5(DCTN1):c.279+8C>T
|
rs376401397
|
0.00046
|
NM_004562.3(PRKN):c.766C>T (p.Arg256Cys)
|
rs150562946
|
0.00046
|
NM_032409.3(PINK1):c.1147G>A (p.Ala383Thr)
|
rs45515602
|
0.00046
|
NM_152296.5(ATP1A3):c.994-3C>G
|
rs377256877
|
0.00046
|
NM_001256864.2(DNAJC6):c.829G>A (p.Ala277Thr)
|
rs146050826
|
0.00045
|
NM_004606.5(TAF1):c.422C>T (p.Pro141Leu)
|
rs141145230
|
0.00045
|
NM_001044.5(SLC6A3):c.1155C>T (p.Asp385=)
|
rs145114326
|
0.00044
|
NM_003719.5(PDE8B):c.*741A>T
|
rs189940792
|
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_152296.5(ATP1A3):c.*236T>C
|
rs199854166
|
0.00044
|
NM_002609.4(PDGFRB):c.2655C>T (p.Asp885=)
|
rs144234864
|
0.00043
|
NM_003719.5(PDE8B):c.2055G>A (p.Glu685=)
|
rs146449408
|
0.00043
|
NM_022089.4(ATP13A2):c.2160G>T (p.Gly720=)
|
rs61999317
|
0.00043
|
NM_004562.3(PRKN):c.-42T>C
|
rs112850281
|
0.00042
|
NM_003690.5(PRKRA):c.-64C>G
|
rs576729883
|
0.00041
|
NM_025243.4(SLC19A3):c.613A>G (p.Arg205Gly)
|
rs199558186
|
0.00041
|
NM_181575.5(AUP1):c.-17C>T
|
rs757541077
|
0.00041
|
NM_198578.4(LRRK2):c.825T>C (p.His275=)
|
rs72546315
|
0.00041
|
NM_001257180.2(SLC20A2):c.*482T>C
|
rs558754799
|
0.00040
|
NM_003560.4(PLA2G6):c.101C>T (p.Ser34Leu)
|
rs147948449
|
0.00040
|
NM_203446.3(SYNJ1):c.705+7A>G
|
rs187016397
|
0.00040
|
NM_001044.5(SLC6A3):c.1470C>T (p.Ile490=)
|
rs8179034
|
0.00039
|
NM_004082.5(DCTN1):c.2334A>C (p.Thr778=)
|
rs144256653
|
0.00039
|
NM_022089.4(ATP13A2):c.3087C>T (p.Phe1029=)
|
rs184878897
|
0.00039
|
NM_032409.3(PINK1):c.1605G>A (p.Ser535=)
|
rs149070918
|
0.00039
|
NM_032603.5(LOXL3):c.*178A>T
|
rs71640296
|
0.00039
|
NM_198578.4(LRRK2):c.2697A>C (p.Glu899Asp)
|
rs148113070
|
0.00039
|
NM_198578.4(LRRK2):c.7320A>G (p.Ser2440=)
|
rs144027504
|
0.00039
|
NM_203446.3(SYNJ1):c.*186_*187insAATAC
|
rs869265580
|
0.00039
|
NM_003560.4(PLA2G6):c.416G>A (p.Arg139His)
|
rs141825182
|
0.00038
|
NM_004082.5(DCTN1):c.3610-14C>T
|
rs757854575
|
0.00038
|
NM_004562.3(PRKN):c.535-9T>A
|
rs201039350
|
0.00038
|
NM_198578.4(LRRK2):c.2481T>C (p.Ser827=)
|
rs76890302
|
0.00038
|
NM_002609.4(PDGFRB):c.2889C>T (p.Gly963=)
|
rs139623802
|
0.00037
|
NM_022089.4(ATP13A2):c.2020G>A (p.Ala674Thr)
|
rs143834546
|
0.00037
|
NM_203446.3(SYNJ1):c.*443G>A
|
rs532034867
|
0.00037
|
NM_003690.5(PRKRA):c.*79G>A
|
rs9678530
|
0.00036
|
NM_004181.5(UCHL1):c.*84C>G
|
rs959534314
|
0.00036
|
NM_004181.5(UCHL1):c.175-5C>T
|
rs373327947
|
0.00036
|
NM_004181.5(UCHL1):c.513C>T (p.His171=)
|
rs145093131
|
0.00036
|
NM_025243.4(SLC19A3):c.436G>A (p.Val146Ile)
|
rs147502239
|
0.00036
|
NM_198578.4(LRRK2):c.6055G>A (p.Gly2019Ser)
|
rs34637584
|
0.00036
|
NM_203446.3(SYNJ1):c.*312C>T
|
rs149199429
|
0.00036
|
NM_001044.5(SLC6A3):c.1086C>T (p.Phe362=)
|
rs28363072
|
0.00035
|
NM_001044.5(SLC6A3):c.1600-17G>A
|
rs370345490
|
0.00035
|
NM_003560.4(PLA2G6):c.91G>A (p.Asp31Asn)
|
rs150024227
|
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_198578.4(LRRK2):c.7429C>T (p.Arg2477Trp)
|
rs138780308
|
0.00035
|
NM_001044.5(SLC6A3):c.456C>T (p.Val152=)
|
rs147399016
|
0.00034
|
NM_001044.5(SLC6A3):c.70G>A (p.Val24Met)
|
rs201800694
|
0.00034
|
NM_001257180.2(SLC20A2):c.846C>T (p.Asp282=)
|
rs116122164
|
0.00034
|
NM_003719.5(PDE8B):c.2263G>A (p.Asp755Asn)
|
rs116027371
|
0.00034
|
NM_004082.5(DCTN1):c.*122A>C
|
rs777649011
|
0.00034
|
NM_012179.4(FBXO7):c.110C>G (p.Thr37Ser)
|
rs773027248
|
0.00034
|
NM_018713.3(SLC30A10):c.719-6T>C
|
rs61832076
|
0.00034
|
NM_018713.3(SLC30A10):c.789T>C (p.Tyr263=)
|
rs138025172
|
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_025243.4(SLC19A3):c.1112C>T (p.Ala371Val)
|
rs142166552
|
0.00034
|
NM_001044.5(SLC6A3):c.1498+10G>A
|
rs759848180
|
0.00033
|
NM_001103146.3(GIGYF2):c.167A>G (p.Asn56Ser)
|
rs72554080
|
0.00033
|
NM_001257180.2(SLC20A2):c.1101C>G (p.Pro367=)
|
rs199935692
|
0.00033
|
NM_002609.4(PDGFRB):c.263C>T (p.Thr88Ile)
|
rs147303614
|
0.00033
|
NM_004606.5(TAF1):c.4698G>A (p.Arg1566=)
|
rs148007434
|
0.00033
|
NM_032409.3(PINK1):c.*586T>C
|
rs184877436
|
0.00033
|
NM_032409.3(PINK1):c.1251+9C>T
|
rs369834644
|
0.00033
|
NM_032409.3(PINK1):c.1728A>G (p.Ser576=)
|
rs149994404
|
0.00033
|
NM_001103146.3(GIGYF2):c.1370A>C (p.Asn457Thr)
|
rs116074753
|
0.00032
|
NM_001256864.2(DNAJC6):c.194-17T>G
|
rs372128441
|
0.00032
|
NM_002609.4(PDGFRB):c.1119G>A (p.Ser373=)
|
rs200225593
|
0.00032
|
NM_002609.4(PDGFRB):c.2199C>T (p.Thr733=)
|
rs192355633
|
0.00032
|
NM_012179.4(FBXO7):c.277T>G (p.Ser93Ala)
|
rs143041875
|
0.00032
|
NM_203446.3(SYNJ1):c.1081T>A (p.Tyr361Asn)
|
rs533216340
|
0.00032
|
NM_001257180.2(SLC20A2):c.849C>T (p.Ser283=)
|
rs114218633
|
0.00031
|
NM_002609.4(PDGFRB):c.1279C>T (p.Pro427Ser)
|
rs199873101
|
0.00031
|
NM_003719.5(PDE8B):c.435C>T (p.Ser145=)
|
rs76299136
|
0.00031
|
NM_004181.5(UCHL1):c.609A>G (p.Glu203=)
|
rs147661219
|
0.00031
|
NM_004562.3(PRKN):c.*1550A>G
|
rs567890129
|
0.00031
|
NM_004562.3(PRKN):c.*2474A>C
|
rs886061228
|
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_025243.4(SLC19A3):c.*1630G>T
|
rs186778173
|
0.00031
|
NM_181575.5(AUP1):c.-15C>T
|
rs371791263
|
0.00031
|
NM_001256864.2(DNAJC6):c.198C>T (p.Ala66=)
|
rs374727491
|
0.00030
|
NM_018206.6(VPS35):c.1020A>G (p.Gln340=)
|
rs188883365
|
0.00030
|
NM_022089.4(ATP13A2):c.2619G>C (p.Val873=)
|
rs199994961
|
0.00030
|
NM_198578.4(LRRK2):c.*1069A>G
|
rs199823070
|
0.00030
|
NM_203446.3(SYNJ1):c.1830C>G (p.Leu610=)
|
rs115658799
|
0.00030
|
NM_001044.5(SLC6A3):c.1118A>G (p.Gln373Arg)
|
rs115282473
|
0.00029
|
NM_001044.5(SLC6A3):c.1390G>A (p.Val464Ile)
|
rs140401978
|
0.00029
|
NM_002609.4(PDGFRB):c.2463C>T (p.Asn821=)
|
rs78336563
|
0.00029
|
NM_003285.3(TNR):c.1774A>G (p.Thr592Ala)
|
rs140481433
|
0.00029
|
NM_003560.4(PLA2G6):c.956C>T (p.Thr319Met)
|
rs149653983
|
0.00029
|
NM_004082.5(DCTN1):c.2805C>G (p.Ile935Met)
|
rs145130328
|
0.00029
|
NM_004082.5(DCTN1):c.3029+6G>T
|
rs754143116
|
0.00029
|
NM_004082.5(DCTN1):c.597G>A (p.Pro199=)
|
rs143607419
|
0.00029
|
NM_004606.5(TAF1):c.4754-4A>G
|
rs370696191
|
0.00029
|
NM_018206.6(VPS35):c.*346G>A
|
rs545755034
|
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_198578.4(LRRK2):c.*1018G>T
|
rs200782338
|
0.00029
|
NM_004082.5(DCTN1):c.558G>A (p.Pro186=)
|
rs201078804
|
0.00028
|
NM_018206.6(VPS35):c.151G>A (p.Gly51Ser)
|
rs193077277
|
0.00028
|
NM_022089.4(ATP13A2):c.*243A>C
|
rs777596557
|
0.00028
|
NM_025243.4(SLC19A3):c.*1889T>C
|
rs1040331392
|
0.00028
|
NM_001044.5(SLC6A3):c.1805A>G (p.Glu602Gly)
|
rs147837176
|
0.00027
|
NM_004562.3(PRKN):c.101_102del (p.Gln34fs)
|
rs55777503
|
0.00027
|
NM_012179.4(FBXO7):c.303T>C (p.Asn101=)
|
rs373293691
|
0.00027
|
NM_013247.5(HTRA2):c.*267C>T
|
rs184230827
|
0.00027
|
NM_025243.4(SLC19A3):c.*1121G>A
|
rs539114374
|
0.00027
|
NM_152296.5(ATP1A3):c.1503C>T (p.Pro501=)
|
rs143904999
|
0.00027
|
NM_198578.4(LRRK2):c.319A>G (p.Asn107Asp)
|
rs141177841
|
0.00027
|
NM_198578.4(LRRK2):c.4536+3A>G
|
rs41286476
|
0.00027
|
NM_001044.5(SLC6A3):c.1767+13A>G
|
rs28363130
|
0.00026
|
NM_001044.5(SLC6A3):c.1857G>C (p.Lys619Asn)
|
rs200712598
|
0.00026
|
NM_001257180.2(SLC20A2):c.1572C>T (p.Gly524=)
|
rs116795654
|
0.00026
|
NM_001257180.2(SLC20A2):c.1911C>T (p.Ser637=)
|
rs141545390
|
0.00026
|
NM_003690.5(PRKRA):c.*151A>T
|
rs886055203
|
0.00026
|
NM_003719.5(PDE8B):c.591-7A>G
|
rs200516880
|
0.00026
|
NM_022089.4(ATP13A2):c.2610-9T>C
|
rs376189607
|
0.00026
|
NM_025243.4(SLC19A3):c.562C>G (p.Leu188Val)
|
rs146949876
|
0.00026
|
NM_032409.3(PINK1):c.*702G>A
|
rs922209796
|
0.00026
|
NM_152296.5(ATP1A3):c.-148T>G
|
rs769525784
|
0.00026
|
NM_152296.5(ATP1A3):c.1192+6C>T
|
rs367771319
|
0.00026
|
NM_152296.5(ATP1A3):c.597C>T (p.His199=)
|
rs139145792
|
0.00026
|
NM_198578.4(LRRK2):c.364C>T (p.Leu122=)
|
rs41286468
|
0.00026
|
NM_203446.3(SYNJ1):c.909A>G (p.Gly303=)
|
rs145522240
|
0.00026
|
NM_001044.5(SLC6A3):c.1269+12G>A
|
rs367687282
|
0.00025
|
NM_001257180.2(SLC20A2):c.*409A>G
|
rs190717111
|
0.00025
|
NM_006186.4(NR4A2):c.*933G>A
|
rs563505935
|
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_198578.4(LRRK2):c.1256C>T (p.Ala419Val)
|
rs34594498
|
0.00025
|
NM_198578.4(LRRK2):c.7067C>T (p.Thr2356Ile)
|
rs113511708
|
0.00025
|
NM_198578.4(LRRK2):c.7462+15G>C
|
rs200420425
|
0.00025
|
NM_001044.5(SLC6A3):c.1089C>T (p.Val363=)
|
rs114461544
|
0.00024
|
NM_002609.4(PDGFRB):c.1223C>G (p.Ser408Cys)
|
rs200203294
|
0.00024
|
NM_003690.5(PRKRA):c.66-10G>T
|
rs375307696
|
0.00024
|
NM_004082.5(DCTN1):c.3490A>G (p.Thr1164Ala)
|
rs72466493
|
0.00024
|
NM_004562.3(PRKN):c.110C>T (p.Pro37Leu)
|
rs148990138
|
0.00024
|
NM_012179.4(FBXO7):c.1505A>G (p.Asn502Ser)
|
rs144538200
|
0.00024
|
NM_018206.6(VPS35):c.89T>A (p.Met30Lys)
|
rs145147781
|
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_198578.4(LRRK2):c.*405C>T
|
rs200503610
|
0.00024
|
NM_198578.4(LRRK2):c.5467C>A (p.Gln1823Lys)
|
rs72547980
|
0.00024
|
NM_203446.3(SYNJ1):c.125-17A>G
|
rs113560074
|
0.00024
|
NM_203446.3(SYNJ1):c.2874+5G>A
|
rs371765751
|
0.00024
|
NM_203446.3(SYNJ1):c.2997T>C (p.Leu999=)
|
rs111774827
|
0.00024
|
NM_002609.4(PDGFRB):c.17C>T (p.Ala6Val)
|
rs150173975
|
0.00023
|
NM_004082.5(DCTN1):c.1095G>A (p.Glu365=)
|
rs115088049
|
0.00023
|
NM_004562.3(PRKN):c.*2451G>A
|
rs371405899
|
0.00023
|
NM_018206.6(VPS35):c.945A>T (p.Gly315=)
|
rs144346159
|
0.00023
|
NM_022089.4(ATP13A2):c.2198C>T (p.Thr733Met)
|
rs201883464
|
0.00023
|
NM_152296.5(ATP1A3):c.1193-4C>G
|
rs200111818
|
0.00023
|
NM_198578.4(LRRK2):c.2264C>T (p.Pro755Leu)
|
rs34410987
|
0.00023
|
NM_198578.4(LRRK2):c.2594C>T (p.Ser865Phe)
|
rs142700458
|
0.00023
|
NM_198578.4(LRRK2):c.6801C>T (p.Thr2267=)
|
rs148143226
|
0.00023
|
NM_198578.4(LRRK2):c.856C>G (p.Leu286Val)
|
rs200437744
|
0.00023
|
NM_203446.3(SYNJ1):c.*333C>T
|
rs548047319
|
0.00023
|
NM_000157.4(GBA1):c.1224G>A (p.Thr408=)
|
rs138498426
|
0.00022
|
NM_000345.4(SNCA):c.121+11C>T
|
rs35135226
|
0.00022
|
NM_001044.5(SLC6A3):c.1143C>T (p.Asp381=)
|
rs8179027
|
0.00022
|
NM_001256864.2(DNAJC6):c.1113G>A (p.Lys371=)
|
rs144924736
|
0.00022
|
NM_003719.5(PDE8B):c.*1254T>G
|
rs1045802081
|
0.00022
|
NM_020821.3(VPS13C):c.387C>T (p.Gly129=)
|
rs139665824
|
0.00022
|
NM_025243.4(SLC19A3):c.1370G>A (p.Ser457Asn)
|
rs138839321
|
0.00022
|
NM_025243.4(SLC19A3):c.382T>C (p.Tyr128His)
|
rs1423798302
|
0.00022
|
NM_025243.4(SLC19A3):c.387C>T (p.Ser129=)
|
rs143579160
|
0.00022
|
NM_152296.5(ATP1A3):c.7-17G>A
|
rs201253471
|
0.00022
|
NM_198578.4(LRRK2):c.1324C>T (p.His442Tyr)
|
rs568593066
|
0.00022
|
NM_198578.4(LRRK2):c.5822G>A (p.Arg1941His)
|
rs77428810
|
0.00022
|
NM_000345.4(SNCA):c.216G>A (p.Thr72=)
|
rs144758871
|
0.00021
|
NM_001044.5(SLC6A3):c.1032-14T>C
|
rs375742593
|
0.00021
|
NM_003560.4(PLA2G6):c.2417C>G (p.Pro806Arg)
|
rs140758033
|
0.00021
|
NM_003690.5(PRKRA):c.*265A>C
|
rs886055201
|
0.00021
|
NM_003719.5(PDE8B):c.*1520T>C
|
rs558413983
|
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_152296.5(ATP1A3):c.1695C>T (p.Asp565=)
|
rs375255226
|
0.00021
|
NM_152296.5(ATP1A3):c.756C>T (p.Gly252=)
|
rs150070299
|
0.00021
|
NM_198578.4(LRRK2):c.3974G>A (p.Arg1325Gln)
|
rs72546338
|
0.00021
|
NM_198578.4(LRRK2):c.5799A>T (p.Ile1933=)
|
rs139746572
|
0.00021
|
NM_198578.4(LRRK2):c.7036T>C (p.Tyr2346His)
|
rs138264225
|
0.00021
|
NM_203446.3(SYNJ1):c.2597T>C (p.Ile866Thr)
|
rs114053718
|
0.00021
|
NM_203446.3(SYNJ1):c.2875-5G>A
|
rs376206541
|
0.00021
|
NM_000157.4(GBA1):c.1342G>C (p.Asp448His)
|
rs1064651
|
0.00020
|
NM_002609.4(PDGFRB):c.499G>A (p.Val167Ile)
|
rs144857517
|
0.00020
|
NM_003560.4(PLA2G6):c.439G>A (p.Ala147Thr)
|
rs138672490
|
0.00020
|
NM_004082.5(DCTN1):c.2605C>T (p.Leu869=)
|
rs148511573
|
0.00020
|
NM_004082.5(DCTN1):c.837G>A (p.Ala279=)
|
rs72466489
|
0.00020
|
NM_004562.2(PRKN):c.-107G>A
|
rs886061239
|
0.00020
|
NM_022089.4(ATP13A2):c.2685G>A (p.Leu895=)
|
rs138437271
|
0.00020
|
NM_032409.3(PINK1):c.626C>T (p.Pro209Leu)
|
rs34677717
|
0.00020
|
NM_198578.4(LRRK2):c.*1388T>C
|
rs200410756
|
0.00020
|
NM_198578.4(LRRK2):c.2769G>C (p.Gln923His)
|
rs58559150
|
0.00020
|
NM_000345.4(SNCA):c.156G>T (p.Val52=)
|
rs148108612
|
0.00019
|
NM_001044.5(SLC6A3):c.1035C>T (p.Asp345=)
|
rs369288905
|
0.00019
|
NM_001044.5(SLC6A3):c.1137C>T (p.Ile379=)
|
rs201605046
|
0.00019
|
NM_001044.5(SLC6A3):c.605C>G (p.Ser202Trp)
|
rs149444784
|
0.00019
|
NM_001257180.2(SLC20A2):c.1580C>T (p.Thr527Met)
|
rs145970823
|
0.00019
|
NM_002609.4(PDGFRB):c.2466C>T (p.Cys822=)
|
rs55830572
|
0.00019
|
NM_002609.4(PDGFRB):c.43G>A (p.Glu15Lys)
|
rs148853962
|
0.00019
|
NM_003560.4(PLA2G6):c.1381C>T (p.Arg461Trp)
|
rs76718524
|
0.00019
|
NM_004082.5(DCTN1):c.3127C>T (p.Arg1043Cys)
|
rs140066692
|
0.00019
|
NM_004181.5(UCHL1):c.*125C>T
|
rs886059408
|
0.00019
|
NM_004562.3(PRKN):c.*1470G>A
|
rs886061231
|
0.00019
|
NM_018206.6(VPS35):c.*401G>A
|
rs553790361
|
0.00019
|
NM_025243.4(SLC19A3):c.106A>G (p.Ile36Val)
|
rs372637185
|
0.00019
|
NM_025243.4(SLC19A3):c.557T>C (p.Phe186Ser)
|
rs116533505
|
0.00019
|
NM_025243.4(SLC19A3):c.870A>G (p.Ala290=)
|
rs141190841
|
0.00019
|
NM_032409.3(PINK1):c.858G>A (p.Pro286=)
|
rs148144773
|
0.00019
|
NM_198578.4(LRRK2):c.3429C>T (p.Ser1143=)
|
rs142989436
|
0.00019
|
NM_198578.4(LRRK2):c.3683G>C (p.Ser1228Thr)
|
rs60185966
|
0.00019
|
NM_198578.4(LRRK2):c.45T>C (p.Thr15=)
|
rs142399623
|
0.00019
|
NM_203446.3(SYNJ1):c.1726+18T>C
|
rs780148215
|
0.00019
|
NM_203446.3(SYNJ1):c.3580G>C (p.Ala1194Pro)
|
rs77164494
|
0.00019
|
NM_001044.5(SLC6A3):c.1515C>T (p.Ser505=)
|
rs114563841
|
0.00018
|
NM_003719.5(PDE8B):c.*341C>T
|
rs559578439
|
0.00018
|
NM_004082.5(DCTN1):c.3029+19G>A
|
rs201665169
|
0.00018
|
NM_004562.3(PRKN):c.930G>C (p.Glu310Asp)
|
rs72480423
|
0.00018
|
NM_022089.4(ATP13A2):c.1543-9C>T
|
rs563459900
|
0.00018
|
NM_032409.3(PINK1):c.153A>G (p.Gly51=)
|
rs967760539
|
0.00018
|
NM_152296.5(ATP1A3):c.94-16A>C
|
rs782612422
|
0.00018
|
NM_203446.3(SYNJ1):c.-23+15G>A
|
rs546859861
|
0.00018
|
NM_203446.3(SYNJ1):c.1953-10T>C
|
rs368736353
|
0.00018
|
NM_203446.3(SYNJ1):c.2937A>G (p.Glu979=)
|
rs574473408
|
0.00018
|
NM_002609.4(PDGFRB):c.3276G>A (p.Ser1092=)
|
rs774197688
|
0.00017
|
NM_003560.4(PLA2G6):c.1427C>T (p.Thr476Ile)
|
rs146684391
|
0.00017
|
NM_006186.4(NR4A2):c.585C>T (p.Asp195=)
|
rs143064317
|
0.00017
|
NM_012179.4(FBXO7):c.1552C>T (p.Arg518Trp)
|
rs374363283
|
0.00017
|
NM_022089.4(ATP13A2):c.1353+8T>C
|
rs369680614
|
0.00017
|
NM_032409.3(PINK1):c.587C>T (p.Pro196Leu)
|
rs138302371
|
0.00017
|
NM_152296.5(ATP1A3):c.2856G>A (p.Thr952=)
|
rs148292376
|
0.00017
|
NM_203446.3(SYNJ1):c.3591G>A (p.Thr1197=)
|
rs764207431
|
0.00017
|
NM_000157.4(GBA1):c.222_224del (p.Thr75del)
|
rs761621516
|
0.00016
|
NM_000345.4(SNCA):c.349C>A (p.Pro117Thr)
|
rs145138372
|
0.00016
|
NM_001044.5(SLC6A3):c.1036G>A (p.Ala346Thr)
|
rs375720650
|
0.00016
|
NM_001103146.3(GIGYF2):c.1262A>G (p.Lys421Arg)
|
rs115735611
|
0.00016
|
NM_001204.7(BMPR2):c.545G>A (p.Gly182Asp)
|
rs137852754
|
0.00016
|
NM_001257180.2(SLC20A2):c.138G>A (p.Gln46=)
|
rs116068659
|
0.00016
|
NM_002609.4(PDGFRB):c.1108C>T (p.Arg370Cys)
|
rs200684708
|
0.00016
|
NM_003560.4(PLA2G6):c.2234G>A (p.Arg745Gln)
|
rs368514303
|
0.00016
|
NM_004082.5(DCTN1):c.2019C>T (p.Ala673=)
|
rs372482596
|
0.00016
|
NM_004082.5(DCTN1):c.570G>A (p.Pro190=)
|
rs528908728
|
0.00016
|
NM_004562.3(PRKN):c.337_376del (p.Pro113fs)
|
rs771529549
|
0.00016
|
NM_004562.3(PRKN):c.719C>T (p.Thr240Met)
|
rs137853054
|
0.00016
|
NM_006186.4(NR4A2):c.-339C>A
|
rs1055625772
|
0.00016
|
NM_007262.5(PARK7):c.410-9A>G
|
rs143947415
|
0.00016
|
NM_012179.4(FBXO7):c.155A>G (p.Tyr52Cys)
|
rs550610502
|
0.00016
|
NM_012179.4(FBXO7):c.274G>C (p.Asp92His)
|
rs139135860
|
0.00016
|
NM_013247.5(HTRA2):c.1046-5C>G
|
rs374529449
|
0.00016
|
NM_018713.3(SLC30A10):c.*315G>A
|
rs1009314082
|
0.00016
|
NM_022089.4(ATP13A2):c.2592C>T (p.Cys864=)
|
rs777472886
|
0.00016
|
NM_025243.4(SLC19A3):c.*575G>A
|
rs528139519
|
0.00016
|
NM_025243.4(SLC19A3):c.977G>T (p.Gly326Val)
|
rs747823282
|
0.00016
|
NM_032409.3(PINK1):c.1219C>T (p.Arg407Trp)
|
rs145876364
|
0.00016
|
NM_032409.3(PINK1):c.695C>T (p.Ala232Val)
|
rs144071530
|
0.00016
|
NM_152296.5(ATP1A3):c.2419-7C>T
|
rs187436315
|
0.00016
|
NM_152296.5(ATP1A3):c.6+3A>G
|
rs369853936
|
0.00016
|
NM_198241.3(EIF4G1):c.3614G>A (p.Arg1205His)
|
rs112176450
|
0.00016
|
NM_198578.4(LRRK2):c.*769T>G
|
rs201106361
|
0.00016
|
NM_198578.4(LRRK2):c.1561A>G (p.Arg521Gly)
|
rs35328937
|
0.00016
|
NM_198578.4(LRRK2):c.3342A>G (p.Leu1114=)
|
rs35808389
|
0.00016
|
NM_203446.3(SYNJ1):c.3517+13G>C
|
rs370311881
|
0.00016
|
NM_203446.3(SYNJ1):c.3697+10C>G
|
rs548819939
|
0.00016
|
NM_203446.3(SYNJ1):c.3746C>T (p.Pro1249Leu)
|
rs149288077
|
0.00016
|
NM_203446.3(SYNJ1):c.421T>C (p.Leu141=)
|
rs140461566
|
0.00016
|
NM_203446.3(SYNJ1):c.435G>A (p.Ala145=)
|
rs151248057
|
0.00016
|
NM_203446.3(SYNJ1):c.831C>T (p.Ala277=)
|
rs148732160
|
0.00016
|
NM_000345.4(SNCA):c.147G>A (p.Val49=)
|
rs141859659
|
0.00015
|
NM_001256864.2(DNAJC6):c.1070T>C (p.Met357Thr)
|
rs201840876
|
0.00015
|
NM_001256864.2(DNAJC6):c.1182A>G (p.Leu394=)
|
rs148145327
|
0.00015
|
NM_001256864.2(DNAJC6):c.1577A>G (p.Asn526Ser)
|
rs191459935
|
0.00015
|
NM_002609.4(PDGFRB):c.3270G>A (p.Pro1090=)
|
rs183852315
|
0.00015
|
NM_003719.5(PDE8B):c.*30G>A
|
rs201812762
|
0.00015
|
NM_003719.5(PDE8B):c.400-7G>T
|
rs201875450
|
0.00015
|
NM_004562.3(PRKN):c.*1601G>A
|
rs779851186
|
0.00015
|
NM_006186.3(NR4A2):c.*1311A>G
|
rs886054974
|
0.00015
|
NM_013247.5(HTRA2):c.77G>A (p.Gly26Glu)
|
rs145946172
|
0.00015
|
NM_018713.3(SLC30A10):c.-19G>A
|
rs199933401
|
0.00015
|
NM_018713.3(SLC30A10):c.-68C>T
|
rs886046004
|
0.00015
|
NM_022089.4(ATP13A2):c.*58A>G
|
rs369126613
|
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_198578.4(LRRK2):c.6054C>T (p.Tyr2018=)
|
rs150219613
|
0.00015
|
NM_000345.4(SNCA):c.298T>C (p.Leu100=)
|
rs138969470
|
0.00014
|
NM_002609.4(PDGFRB):c.2023+5C>T
|
rs369842668
|
0.00014
|
NM_003719.5(PDE8B):c.*1204C>T
|
rs573820883
|
0.00014
|
NM_004082.5(DCTN1):c.3003C>T (p.Thr1001=)
|
rs376031920
|
0.00014
|
NM_004181.5(UCHL1):c.457C>T (p.Arg153Trp)
|
rs139583787
|
0.00014
|
NM_004562.3(PRKN):c.837C>T (p.His279=)
|
rs149433924
|
0.00014
|
NM_004606.5(TAF1):c.235+3G>A
|
rs368024152
|
0.00014
|
NM_012179.4(FBXO7):c.1070C>T (p.Ala357Val)
|
rs141068487
|
0.00014
|
NM_016139.4(CHCHD2):c.101C>T (p.Pro34Leu)
|
rs371198317
|
0.00014
|
NM_018206.6(VPS35):c.1881C>T (p.Ala627=)
|
rs138794859
|
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_025243.4(SLC19A3):c.99A>G (p.Pro33=)
|
rs17853011
|
0.00014
|
NM_032409.3(PINK1):c.177C>T (p.Val59=)
|
rs766471374
|
0.00014
|
NM_181575.5(AUP1):c.-54C>T
|
rs374306906
|
0.00014
|
NM_198578.4(LRRK2):c.784A>G (p.Met262Val)
|
rs182233369
|
0.00014
|
NM_203446.3(SYNJ1):c.-34C>T
|
rs968709804
|
0.00014
|
NM_203446.3(SYNJ1):c.3139C>G (p.Arg1047Gly)
|
rs147931121
|
0.00014
|
NM_001044.5(SLC6A3):c.1296C>T (p.Thr432=)
|
rs115254960
|
0.00013
|
NM_001044.5(SLC6A3):c.34T>C (p.Ser12Pro)
|
rs149180162
|
0.00013
|
NM_001256864.2(DNAJC6):c.216G>A (p.Glu72=)
|
rs146062011
|
0.00013
|
NM_002609.4(PDGFRB):c.1368-15C>T
|
rs777941214
|
0.00013
|
NM_002609.4(PDGFRB):c.1818C>T (p.Leu606=)
|
rs199649903
|
0.00013
|
NM_002609.4(PDGFRB):c.3204C>T (p.Asp1068=)
|
rs141511317
|
0.00013
|
NM_003719.5(PDE8B):c.*1050T>C
|
rs777820113
|
0.00013
|
NM_003719.5(PDE8B):c.156C>T (p.Ala52=)
|
rs886060755
|
0.00013
|
NM_003719.5(PDE8B):c.999A>G (p.Thr333=)
|
rs886060757
|
0.00013
|
NM_004082.5(DCTN1):c.*49G>A
|
rs368049781
|
0.00013
|
NM_004082.5(DCTN1):c.1573G>A (p.Ala525Thr)
|
rs376564889
|
0.00013
|
NM_004082.5(DCTN1):c.2990G>A (p.Arg997Gln)
|
rs200580530
|
0.00013
|
NM_004082.5(DCTN1):c.3128G>A (p.Arg1043His)
|
rs776489779
|
0.00013
|
NM_004082.5(DCTN1):c.3345+13C>T
|
rs376707439
|
0.00013
|
NM_004181.4(UCHL1):c.-51C>A
|
rs371943957
|
0.00013
|
NM_004562.3(PRKN):c.*60C>A
|
rs553007666
|
0.00013
|
NM_004562.3(PRKN):c.1289G>A (p.Gly430Asp)
|
rs191486604
|
0.00013
|
NM_007262.5(PARK7):c.310G>A (p.Ala104Thr)
|
rs774005786
|
0.00013
|
NM_018206.6(VPS35):c.959C>T (p.Ala320Val)
|
rs747944333
|
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.2951C>T (p.Ala984Val)
|
rs375552345
|
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_025243.4(SLC19A3):c.*204G>A
|
rs560082192
|
0.00013
|
NM_152296.5(ATP1A3):c.1500C>T (p.Ala500=)
|
rs146606627
|
0.00013
|
NM_152296.5(ATP1A3):c.2493G>A (p.Thr831=)
|
rs374157034
|
0.00013
|
NM_198241.3(EIF4G1):c.1505C>T (p.Ala502Val)
|
rs111290936
|
0.00013
|
NM_198578.4(LRRK2):c.*470G>T
|
rs200678400
|
0.00013
|
NM_198578.4(LRRK2):c.478T>A (p.Phe160Ile)
|
rs746884528
|
0.00013
|
NM_203446.3(SYNJ1):c.1257T>G (p.Thr419=)
|
rs76972835
|
0.00013
|
NM_203446.3(SYNJ1):c.1603G>A (p.Val535Ile)
|
rs145712835
|
0.00013
|
NM_203446.3(SYNJ1):c.2739C>T (p.Ala913=)
|
rs267606107
|
0.00013
|
NM_203446.3(SYNJ1):c.3638G>A (p.Arg1213Gln)
|
rs144048853
|
0.00013
|
NM_001044.5(SLC6A3):c.653+14G>A
|
rs374067917
|
0.00012
|
NM_001044.5(SLC6A3):c.898G>A (p.Val300Ile)
|
rs145782788
|
0.00012
|
NM_001256864.2(DNAJC6):c.1039A>G (p.Ile347Val)
|
rs200712827
|
0.00012
|
NM_003560.4(PLA2G6):c.16C>T (p.Arg6Cys)
|
rs143250889
|
0.00012
|
NM_004082.5(DCTN1):c.1480G>A (p.Ala494Thr)
|
rs113980038
|
0.00012
|
NM_004082.5(DCTN1):c.2015+3A>G
|
rs200057343
|
0.00012
|
NM_004082.5(DCTN1):c.3501C>T (p.His1167=)
|
rs569997015
|
0.00012
|
NM_004181.5(UCHL1):c.69C>T (p.Ala23=)
|
rs753720793
|
0.00012
|
NM_004562.3(PRKN):c.*1243C>A
|
rs961026516
|
0.00012
|
NM_004562.3(PRKN):c.1096C>T (p.Arg366Trp)
|
rs56092260
|
0.00012
|
NM_012179.4(FBXO7):c.291A>C (p.Ser97=)
|
rs369892815
|
0.00012
|
NM_012452.3(TNFRSF13B):c.58C>T (p.Arg20Cys)
|
rs200013015
|
0.00012
|
NM_018206.6(VPS35):c.1268C>T (p.Pro423Leu)
|
rs373075116
|
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.356C>T (p.Pro119Leu)
|
rs752619582
|
0.00012
|
NM_025243.4(SLC19A3):c.865A>G (p.Thr289Ala)
|
rs746272588
|
0.00012
|
NM_025243.4(SLC19A3):c.883G>A (p.Val295Ile)
|
rs754406086
|
0.00012
|
NM_032409.3(PINK1):c.1251+10G>A
|
rs192131551
|
0.00012
|
NM_198578.4(LRRK2):c.177T>A (p.Asn59Lys)
|
rs150422099
|
0.00012
|
NM_198578.4(LRRK2):c.3643G>A (p.Ala1215Thr)
|
rs143710836
|
0.00012
|
NM_198578.4(LRRK2):c.5217C>T (p.Tyr1739=)
|
rs200107211
|
0.00012
|
NM_203446.3(SYNJ1):c.3753T>G (p.Ser1251=)
|
rs150595970
|
0.00012
|
NM_000157.4(GBA1):c.680A>G (p.Asn227Ser)
|
rs364897
|
0.00011
|
NM_001044.5(SLC6A3):c.385G>A (p.Ala129Thr)
|
rs780852886
|
0.00011
|
NM_001044.5(SLC6A3):c.710G>A (p.Arg237Gln)
|
rs6345
|
0.00011
|
NM_001135674.2(SMIM19):c.-450A>G
|
rs997866933
|
0.00011
|
NM_001256864.2(DNAJC6):c.1832C>T (p.Ala611Val)
|
rs375368522
|
0.00011
|
NM_001257180.2(SLC20A2):c.186A>G (p.Leu62=)
|
rs201586836
|
0.00011
|
NM_002609.4(PDGFRB):c.1114G>A (p.Val372Met)
|
rs371975483
|
0.00011
|
NM_002609.4(PDGFRB):c.1520G>A (p.Arg507His)
|
rs145823245
|
0.00011
|
NM_003560.4(PLA2G6):c.447C>T (p.Asn149=)
|
rs368631309
|
0.00011
|
NM_003719.5(PDE8B):c.*57C>T
|
rs566925510
|
0.00011
|
NM_003719.5(PDE8B):c.*648T>G
|
rs184498073
|
0.00011
|
NM_004082.5(DCTN1):c.*251T>G
|
rs756362040
|
0.00011
|
NM_004082.5(DCTN1):c.2588T>C (p.Val863Ala)
|
rs150798076
|
0.00011
|
NM_004082.5(DCTN1):c.2967G>A (p.Glu989=)
|
rs372554051
|
0.00011
|
NM_004082.5(DCTN1):c.3334A>G (p.Ser1112Gly)
|
rs187434401
|
0.00011
|
NM_004562.3(PRKN):c.-46C>T
|
rs369389244
|
0.00011
|
NM_005765.3(ATP6AP2):c.490G>A (p.Val164Ile)
|
rs142013283
|
0.00011
|
NM_012179.4(FBXO7):c.*170C>G
|
rs186797068
|
0.00011
|
NM_012179.4(FBXO7):c.1100A>G (p.Asn367Ser)
|
rs764006085
|
0.00011
|
NM_012179.4(FBXO7):c.1182+18T>G
|
rs201875880
|
0.00011
|
NM_012179.4(FBXO7):c.1272C>T (p.Phe424=)
|
rs577160947
|
0.00011
|
NM_012179.4(FBXO7):c.1495G>A (p.Gly499Ser)
|
rs369612645
|
0.00011
|
NM_012179.4(FBXO7):c.213G>A (p.Gly71=)
|
rs149180516
|
0.00011
|
NM_018206.6(VPS35):c.*575A>T
|
rs768759859
|
0.00011
|
NM_018713.3(SLC30A10):c.*70G>A
|
rs748772564
|
0.00011
|
NM_020702.5(MYORG):c.1634G>A (p.Gly545Asp)
|
rs199770930
|
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_025243.4(SLC19A3):c.*1517T>C
|
rs575955380
|
0.00011
|
NM_025243.4(SLC19A3):c.*975G>T
|
rs371001817
|
0.00011
|
NM_032409.3(PINK1):c.*121G>A
|
rs570308715
|
0.00011
|
NM_032409.3(PINK1):c.*352G>A
|
rs1020810162
|
0.00011
|
NM_032409.3(PINK1):c.1362C>T (p.Tyr454=)
|
rs56383368
|
0.00011
|
NM_032409.3(PINK1):c.1419A>G (p.Ala473=)
|
rs544964252
|
0.00011
|
NM_152296.5(ATP1A3):c.147T>C (p.Cys49=)
|
rs376960579
|
0.00011
|
NM_152296.5(ATP1A3):c.2115C>T (p.Thr705=)
|
rs371962113
|
0.00011
|
NM_152296.5(ATP1A3):c.2226C>T (p.Asp742=)
|
rs146600566
|
0.00011
|
NM_152296.5(ATP1A3):c.2419-17C>T
|
rs541464159
|
0.00011
|
NM_152296.5(ATP1A3):c.288C>T (p.Ile96=)
|
rs142806181
|
0.00011
|
NM_152296.5(ATP1A3):c.531C>T (p.Val177=)
|
rs141696210
|
0.00011
|
NM_198578.4(LRRK2):c.2229T>G (p.Ser743=)
|
rs200425243
|
0.00011
|
NM_198578.4(LRRK2):c.3451G>A (p.Ala1151Thr)
|
rs74985840
|
0.00011
|
NM_198578.4(LRRK2):c.4165G>A (p.Val1389Ile)
|
rs140743795
|
0.00011
|
NM_198578.4(LRRK2):c.632C>T (p.Ala211Val)
|
rs112794616
|
0.00011
|
NM_198578.4(LRRK2):c.7483G>A (p.Val2495Ile)
|
rs150062967
|
0.00011
|
NM_203446.3(SYNJ1):c.1701G>C (p.Lys567Asn)
|
rs147684005
|
0.00011
|
NM_203446.3(SYNJ1):c.2795+16T>A
|
rs533093953
|
0.00011
|
NM_203446.3(SYNJ1):c.3097T>C (p.Ser1033Pro)
|
rs61752559
|
0.00011
|
NM_203446.3(SYNJ1):c.3403C>T (p.Pro1135Ser)
|
rs151126056
|
0.00011
|
NM_203446.3(SYNJ1):c.83A>C (p.Glu28Ala)
|
rs199750187
|
0.00011
|
NM_203446.3(SYNJ1):c.856T>C (p.Phe286Leu)
|
rs752120549
|
0.00011
|
NM_001044.5(SLC6A3):c.792+7C>T
|
rs370881183
|
0.00010
|
NM_001256864.2(DNAJC6):c.2298G>A (p.Ser766=)
|
rs540477402
|
0.00010
|
NM_001257180.2(SLC20A2):c.935-12A>C
|
rs144236532
|
0.00010
|
NM_001377265.1(MAPT):c.1115C>T (p.Ala372Val)
|
rs377402921
|
0.00010
|
NM_002609.4(PDGFRB):c.2960G>A (p.Arg987Gln)
|
rs35731372
|
0.00010
|
NM_002609.4(PDGFRB):c.2972G>A (p.Arg991His)
|
rs75748462
|
0.00010
|
NM_003719.5(PDE8B):c.1299G>A (p.Leu433=)
|
rs376289812
|
0.00010
|
NM_003719.5(PDE8B):c.1317G>A (p.Pro439=)
|
rs754763694
|
0.00010
|
NM_003719.5(PDE8B):c.2235G>A (p.Lys745=)
|
rs774632534
|
0.00010
|
NM_004082.5(DCTN1):c.1997C>T (p.Thr666Met)
|
rs143914684
|
0.00010
|
NM_004082.5(DCTN1):c.2213A>G (p.Gln738Arg)
|
rs143800457
|
0.00010
|
NM_004082.5(DCTN1):c.2353C>T (p.Arg785Trp)
|
rs121909344
|
0.00010
|
NM_004082.5(DCTN1):c.3212-10G>A
|
rs201516838
|
0.00010
|
NM_004082.5(DCTN1):c.3543G>A (p.Pro1181=)
|
rs745853966
|
0.00010
|
NM_004082.5(DCTN1):c.40A>G (p.Ser14Gly)
|
rs758320436
|
0.00010
|
NM_004082.5(DCTN1):c.424G>C (p.Ala142Pro)
|
rs372096285
|
0.00010
|
NM_004082.5(DCTN1):c.788G>T (p.Ser263Ile)
|
rs368273709
|
0.00010
|
NM_004562.3(PRKN):c.*121A>C
|
rs557142572
|
0.00010
|
NM_004562.3(PRKN):c.247A>G (p.Thr83Ala)
|
rs141825163
|
0.00010
|
NM_004562.3(PRKN):c.531C>A (p.Thr177=)
|
rs140590552
|
0.00010
|
NM_007262.5(PARK7):c.*125G>A
|
rs779587926
|
0.00010
|
NM_012179.4(FBXO7):c.803A>G (p.Asn268Ser)
|
rs188111542
|
0.00010
|
NM_022089.4(ATP13A2):c.233G>A (p.Arg78Gln)
|
rs773087322
|
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_025243.4(SLC19A3):c.*1818T>A
|
rs189430957
|
0.00010
|
NM_025243.4(SLC19A3):c.680G>A (p.Gly227Asp)
|
rs139464512
|
0.00010
|
NM_032409.3(PINK1):c.*18G>A
|
rs369117599
|
0.00010
|
NM_032409.3(PINK1):c.942G>A (p.Leu314=)
|
rs145990823
|
0.00010
|
NM_152296.5(ATP1A3):c.2489G>A (p.Arg830Gln)
|
rs368371895
|
0.00010
|
NM_152296.5(ATP1A3):c.2559C>T (p.Leu853=)
|
rs369555293
|
0.00010
|
NM_152296.5(ATP1A3):c.2616C>A (p.Asn872Lys)
|
rs782057287
|
0.00010
|
NM_152296.5(ATP1A3):c.93+5G>A
|
rs372694213
|
0.00010
|
NM_198578.4(LRRK2):c.5270A>G (p.Asn1757Ser)
|
rs368762897
|
0.00010
|
NM_198578.4(LRRK2):c.66G>A (p.Arg22=)
|
rs151283507
|
0.00010
|
NM_203446.3(SYNJ1):c.-47G>C
|
rs1018405878
|
0.00010
|
NM_203446.3(SYNJ1):c.-57T>G
|
rs921606190
|
0.00010
|
NM_203446.3(SYNJ1):c.1182G>A (p.Gln394=)
|
rs540183181
|
0.00010
|
NM_203446.3(SYNJ1):c.2254G>T (p.Asp752Tyr)
|
rs145978776
|
0.00010
|
NM_203446.3(SYNJ1):c.38T>C (p.Leu13Ser)
|
rs779059079
|
0.00010
|
NM_203446.3(SYNJ1):c.583G>A (p.Ala195Thr)
|
rs774367309
|
0.00010
|
NM_001044.5(SLC6A3):c.1641C>G (p.His547Gln)
|
rs140639546
|
0.00009
|
NM_001044.5(SLC6A3):c.1763G>A (p.Arg588Gln)
|
rs376797072
|
0.00009
|
NM_001044.5(SLC6A3):c.1766A>T (p.Glu589Val)
|
rs757597222
|
0.00009
|
NM_001044.5(SLC6A3):c.33G>C (p.Met11Ile)
|
rs143342582
|
0.00009
|
NM_001044.5(SLC6A3):c.792+10G>A
|
rs199702486
|
0.00009
|
NM_001256864.2(DNAJC6):c.2463C>T (p.Asn821=)
|
rs193114909
|
0.00009
|
NM_001256864.2(DNAJC6):c.2697C>T (p.Thr899=)
|
rs149097758
|
0.00009
|
NM_001256864.2(DNAJC6):c.992T>C (p.Met331Thr)
|
rs760136045
|
0.00009
|
NM_002609.4(PDGFRB):c.1083C>T (p.Ser361=)
|
rs146064275
|
0.00009
|
NM_002609.4(PDGFRB):c.2058C>T (p.Tyr686=)
|
rs753622898
|
0.00009
|
NM_002609.4(PDGFRB):c.2464-3C>T
|
rs571983343
|
0.00009
|
NM_002609.4(PDGFRB):c.334G>A (p.Glu112Lys)
|
rs749932332
|
0.00009
|
NM_002609.4(PDGFRB):c.486G>A (p.Glu162=)
|
rs147141808
|
0.00009
|
NM_003560.4(PLA2G6):c.1799G>A (p.Arg600Gln)
|
rs149712244
|
0.00009
|
NM_003560.4(PLA2G6):c.2222G>A (p.Arg741Gln)
|
rs121908686
|
0.00009
|
NM_003690.5(PRKRA):c.-65C>G
|
rs557426364
|
0.00009
|
NM_003690.5(PRKRA):c.665C>T (p.Pro222Leu)
|
rs121434410
|
0.00009
|
NM_003719.5(PDE8B):c.*436C>T
|
rs144907726
|
0.00009
|
NM_003719.5(PDE8B):c.*496A>G
|
rs369658924
|
0.00009
|
NM_004082.5(DCTN1):c.1266C>T (p.Thr422=)
|
rs368742342
|
0.00009
|
NM_004082.5(DCTN1):c.1447C>T (p.Leu483=)
|
rs145369076
|
0.00009
|
NM_004082.5(DCTN1):c.3558G>A (p.Met1186Ile)
|
rs200834352
|
0.00009
|
NM_004082.5(DCTN1):c.3573G>A (p.Gln1191=)
|
rs137966704
|
0.00009
|
NM_004562.3(PRKN):c.727G>A (p.Asp243Asn)
|
rs146173584
|
0.00009
|
NM_004562.3(PRKN):c.735-14C>G
|
rs200157467
|
0.00009
|
NM_004606.5(TAF1):c.4155G>A (p.Thr1385=)
|
rs202158967
|
0.00009
|
NM_007262.5(PARK7):c.-30G>C
|
rs886046544
|
0.00009
|
NM_012179.4(FBXO7):c.-168A>G
|
rs886057417
|
0.00009
|
NM_012179.4(FBXO7):c.319G>A (p.Ala107Thr)
|
rs138222812
|
0.00009
|
NM_013247.5(HTRA2):c.1046-13C>T
|
rs542851656
|
0.00009
|
NM_018206.6(VPS35):c.946C>T (p.Pro316Ser)
|
rs770029606
|
0.00009
|
NM_018713.3(SLC30A10):c.*117G>C
|
rs917343883
|
0.00009
|
NM_018713.3(SLC30A10):c.1118C>A (p.Ala373Glu)
|
rs202111121
|
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_025243.4(SLC19A3):c.*1842T>A
|
rs561263131
|
0.00009
|
NM_025243.4(SLC19A3):c.*300G>A
|
rs886055760
|
0.00009
|
NM_025243.4(SLC19A3):c.1339G>A (p.Ala447Thr)
|
rs754794859
|
0.00009
|
NM_025243.4(SLC19A3):c.325G>A (p.Val109Ile)
|
rs780569649
|
0.00009
|
NM_032409.3(PINK1):c.1719C>T (p.Leu573=)
|
rs201936304
|
0.00009
|
NM_032409.3(PINK1):c.745T>G (p.Leu249Val)
|
rs145650643
|
0.00009
|
NM_152296.5(ATP1A3):c.1131A>G (p.Thr377=)
|
rs143242360
|
0.00009
|
NM_152296.5(ATP1A3):c.1776G>A (p.Ala592=)
|
rs2288507
|
0.00009
|
NM_152296.5(ATP1A3):c.1968C>T (p.His656=)
|
rs142297106
|
0.00009
|
NM_152296.5(ATP1A3):c.2367G>A (p.Pro789=)
|
rs372737275
|
0.00009
|
NM_152296.5(ATP1A3):c.2419-16G>A
|
rs199926456
|
0.00009
|
NM_152296.5(ATP1A3):c.2451C>T (p.Ala817=)
|
rs148392240
|
0.00009
|
NM_152296.5(ATP1A3):c.607-7C>A
|
rs782819736
|
0.00009
|
NM_152296.5(ATP1A3):c.993+9A>T
|
rs376821676
|
0.00009
|
NM_198578.4(LRRK2):c.1073C>T (p.Thr358Met)
|
rs141262110
|
0.00009
|
NM_198578.4(LRRK2):c.2200G>A (p.Asp734Asn)
|
rs771754289
|
0.00009
|
NM_198578.4(LRRK2):c.3741A>G (p.Val1247=)
|
rs759427195
|
0.00009
|
NM_198578.4(LRRK2):c.3960G>T (p.Arg1320Ser)
|
rs77018758
|
0.00009
|
NM_198578.4(LRRK2):c.5412A>G (p.Gly1804=)
|
rs200951081
|
0.00009
|
NM_198578.4(LRRK2):c.6428G>A (p.Arg2143His)
|
rs201271001
|
0.00009
|
NM_203446.3(SYNJ1):c.1555A>G (p.Ser519Gly)
|
rs148901211
|
0.00009
|
NM_203446.3(SYNJ1):c.2205C>T (p.Ile735=)
|
rs149236383
|
0.00009
|
NM_203446.3(SYNJ1):c.2325A>G (p.Glu775=)
|
rs547415470
|
0.00009
|
NM_203446.3(SYNJ1):c.3762C>T (p.Pro1254=)
|
rs201117151
|
0.00009
|
NM_203446.3(SYNJ1):c.3908A>G (p.Gln1303Arg)
|
rs546986773
|
0.00009
|
NR_104387.1(TAF1):n.5894C>T
|
rs397509359
|
0.00009
|
NM_001044.5(SLC6A3):c.1600-18C>T
|
rs761610559
|
0.00008
|
NM_001044.5(SLC6A3):c.77C>T (p.Pro26Leu)
|
rs757417973
|
0.00008
|
NM_001257180.2(SLC20A2):c.*798G>A
|
rs767551448
|
0.00008
|
NM_002609.4(PDGFRB):c.2053C>T (p.Arg685Cys)
|
rs763239423
|
0.00008
|
NM_002609.4(PDGFRB):c.42C>T (p.Gly14=)
|
rs145316660
|
0.00008
|
NM_003690.5(PRKRA):c.233C>A (p.Thr78Lys)
|
rs189979808
|
0.00008
|
NM_003719.5(PDE8B):c.*1150A>G
|
rs867337066
|
0.00008
|
NM_004082.5(DCTN1):c.100G>C (p.Glu34Gln)
|
rs151052060
|
0.00008
|
NM_004082.5(DCTN1):c.1422G>A (p.Leu474=)
|
rs149184538
|
0.00008
|
NM_004082.5(DCTN1):c.3197-8G>A
|
rs371393698
|
0.00008
|
NM_004082.5(DCTN1):c.3546G>A (p.Ser1182=)
|
rs149440626
|
0.00008
|
NM_004082.5(DCTN1):c.358+18A>T
|
rs771340635
|
0.00008
|
NM_004562.3(PRKN):c.2T>C (p.Met1Thr)
|
rs771586218
|
0.00008
|
NM_007262.5(PARK7):c.83G>A (p.Arg28Gln)
|
rs142405016
|
0.00008
|
NM_012179.4(FBXO7):c.-97C>T
|
rs531209490
|
0.00008
|
NM_012179.4(FBXO7):c.1441C>T (p.Arg481Cys)
|
rs148272407
|
0.00008
|
NM_012179.4(FBXO7):c.917G>A (p.Arg306His)
|
rs771599282
|
0.00008
|
NM_013247.5(HTRA2):c.1131A>G (p.Leu377=)
|
rs758108369
|
0.00008
|
NM_018206.6(VPS35):c.*34A>G
|
rs779980787
|
0.00008
|
NM_018206.6(VPS35):c.*617A>G
|
rs746602580
|
0.00008
|
NM_020821.3(VPS13C):c.1126T>C (p.Tyr376His)
|
rs373559813
|
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.3320C>T (p.Ala1107Val)
|
rs755307953
|
0.00008
|
NM_025243.4(SLC19A3):c.1441G>A (p.Val481Met)
|
rs368717276
|
0.00008
|
NM_025243.4(SLC19A3):c.373G>A (p.Ala125Thr)
|
rs996377339
|
0.00008
|
NM_025243.4(SLC19A3):c.980-14A>G
|
rs200542114
|
0.00008
|
NM_032409.3(PINK1):c.1475G>A (p.Arg492Gln)
|
rs143620063
|
0.00008
|
NM_032409.3(PINK1):c.426G>A (p.Pro142=)
|
rs151146709
|
0.00008
|
NM_032409.3(PINK1):c.804A>G (p.Leu268=)
|
rs200708848
|
0.00008
|
NM_032409.3(PINK1):c.835C>T (p.Arg279Cys)
|
rs61735932
|
0.00008
|
NM_032409.3(PINK1):c.949G>A (p.Val317Ile)
|
rs200949139
|
0.00008
|
NM_032409.3(PINK1):c.968G>A (p.Cys323Tyr)
|
rs373417787
|
0.00008
|
NM_152296.5(ATP1A3):c.63C>T (p.Asp21=)
|
rs367930558
|
0.00008
|
NM_198578.4(LRRK2):c.1477C>T (p.Arg493Cys)
|
rs199954611
|
0.00008
|
NM_198578.4(LRRK2):c.2352C>A (p.Ser784Arg)
|
rs398124660
|
0.00008
|
NM_198578.4(LRRK2):c.2771G>A (p.Arg924His)
|
rs200795874
|
0.00008
|
NM_198578.4(LRRK2):c.309G>C (p.Gln103His)
|
rs200926937
|
0.00008
|
NM_198578.4(LRRK2):c.683G>C (p.Cys228Ser)
|
rs56108242
|
0.00008
|
NM_203446.3(SYNJ1):c.2304+20A>G
|
rs142813430
|
0.00008
|
NM_203446.3(SYNJ1):c.2691G>A (p.Leu897=)
|
rs115263361
|
0.00008
|
NM_203446.3(SYNJ1):c.2795+10T>C
|
rs756959605
|
0.00008
|
NM_203446.3(SYNJ1):c.2874+6G>A
|
rs368204504
|
0.00008
|
NM_203446.3(SYNJ1):c.462T>A (p.Thr154=)
|
rs369978981
|
0.00008
|
NM_000345.4(SNCA):c.150T>G (p.His50Gln)
|
rs201106962
|
0.00007
|
NM_001044.5(SLC6A3):c.1728G>A (p.Ala576=)
|
rs769456530
|
0.00007
|
NM_001044.5(SLC6A3):c.969C>T (p.Gly323=)
|
rs369950427
|
0.00007
|
NM_001135674.2(SMIM19):c.-411G>A
|
rs886574926
|
0.00007
|
NM_001256864.2(DNAJC6):c.1715C>T (p.Ala572Val)
|
rs141779215
|
0.00007
|
NM_002609.4(PDGFRB):c.963G>A (p.Glu321=)
|
rs773441060
|
0.00007
|
NM_004082.5(DCTN1):c.1490G>A (p.Arg497His)
|
rs369086889
|
0.00007
|
NM_004082.5(DCTN1):c.2278A>G (p.Met760Val)
|
rs754780894
|
0.00007
|
NM_004082.5(DCTN1):c.2426A>T (p.Asp809Val)
|
rs781268909
|
0.00007
|
NM_004082.5(DCTN1):c.3228G>A (p.Gln1076=)
|
rs202237523
|
0.00007
|
NM_004082.5(DCTN1):c.3529+3A>G
|
rs370727908
|
0.00007
|
NM_004082.5(DCTN1):c.394-16C>G
|
rs371506967
|
0.00007
|
NM_004082.5(DCTN1):c.460C>T (p.Arg154Cys)
|
rs141670992
|
0.00007
|
NM_006186.4(NR4A2):c.*192C>G
|
rs747113198
|
0.00007
|
NM_006186.4(NR4A2):c.1158+13C>T
|
rs372468197
|
0.00007
|
NM_018206.6(VPS35):c.1151A>G (p.Asn384Ser)
|
rs762573165
|
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_022168.4(IFIH1):c.1853G>A (p.Arg618Gln)
|
rs200017837
|
0.00007
|
NM_025243.4(SLC19A3):c.481T>C (p.Leu161=)
|
rs375099581
|
0.00007
|
NM_025243.4(SLC19A3):c.901A>G (p.Ile301Val)
|
rs199513368
|
0.00007
|
NM_025243.4(SLC19A3):c.914A>G (p.Tyr305Cys)
|
rs189540672
|
0.00007
|
NM_032409.3(PINK1):c.*571C>T
|
rs1003457823
|
0.00007
|
NM_032409.3(PINK1):c.1017C>T (p.Ala339=)
|
rs1476223950
|
0.00007
|
NM_032409.3(PINK1):c.1488G>A (p.Lys496=)
|
rs56217826
|
0.00007
|
NM_032409.3(PINK1):c.1609G>A (p.Ala537Thr)
|
rs771032673
|
0.00007
|
NM_032409.3(PINK1):c.565G>A (p.Gly189Arg)
|
rs757581951
|
0.00007
|
NM_032409.3(PINK1):c.836G>A (p.Arg279His)
|
rs74315358
|
0.00007
|
NM_152296.5(ATP1A3):c.1086C>T (p.Thr362=)
|
rs186453162
|
0.00007
|
NM_152296.5(ATP1A3):c.1281G>A (p.Gln427=)
|
rs116979196
|
0.00007
|
NM_152296.5(ATP1A3):c.915C>T (p.Tyr305=)
|
rs199711612
|
0.00007
|
NM_198578.4(LRRK2):c.4348G>A (p.Val1450Ile)
|
rs111501952
|
0.00007
|
NM_198578.4(LRRK2):c.5178A>G (p.Ala1726=)
|
rs200185983
|
0.00007
|
NM_203446.3(SYNJ1):c.1906G>A (p.Val636Ile)
|
rs373820739
|
0.00007
|
NM_203446.3(SYNJ1):c.2439G>A (p.Arg813=)
|
rs143244716
|
0.00007
|
NM_203446.3(SYNJ1):c.3588+20G>A
|
rs1001527639
|
0.00007
|
NM_000157.4(GBA1):c.115+1G>A
|
rs104886460
|
0.00006
|
NM_000157.4(GBA1):c.1495G>A (p.Val499Met)
|
rs369068553
|
0.00006
|
NM_000157.4(GBA1):c.1504C>T (p.Arg502Cys)
|
rs80356771
|
0.00006
|
NM_000157.4(GBA1):c.1604G>A (p.Arg535His)
|
rs75822236
|
0.00006
|
NM_000157.4(GBA1):c.84dup (p.Leu29fs)
|
rs387906315
|
0.00006
|
NM_000345.4(SNCA):c.391-16A>G
|
rs371014092
|
0.00006
|
NM_001044.5(SLC6A3):c.1038G>A (p.Ala346=)
|
rs111362222
|
0.00006
|
NM_001044.5(SLC6A3):c.1446G>A (p.Thr482=)
|
rs750649054
|
0.00006
|
NM_001044.5(SLC6A3):c.149C>T (p.Pro50Leu)
|
rs146798197
|
0.00006
|
NM_001044.5(SLC6A3):c.1767+19C>T
|
rs751182754
|
0.00006
|
NM_001044.5(SLC6A3):c.1839+8C>T
|
rs533644928
|
0.00006
|
NM_001044.5(SLC6A3):c.330G>A (p.Gly110=)
|
rs112801202
|
0.00006
|
NM_001044.5(SLC6A3):c.418+9C>T
|
rs528589234
|
0.00006
|
NM_001103146.3(GIGYF2):c.832A>G (p.Ile278Val)
|
rs118203904
|
0.00006
|
NM_001256864.2(DNAJC6):c.1607A>G (p.Lys536Arg)
|
rs376992397
|
0.00006
|
NM_001256864.2(DNAJC6):c.674G>A (p.Arg225Gln)
|
rs772437036
|
0.00006
|
NM_001257180.2(SLC20A2):c.*1069G>C
|
rs1010204441
|
0.00006
|
NM_001257180.2(SLC20A2):c.542G>A (p.Arg181Gln)
|
rs140059610
|
0.00006
|
NM_002609.4(PDGFRB):c.1526C>T (p.Thr509Met)
|
rs766614995
|
0.00006
|
NM_002609.4(PDGFRB):c.18G>A (p.Ala6=)
|
rs201570042
|
0.00006
|
NM_002609.4(PDGFRB):c.2126G>A (p.Arg709His)
|
rs759436020
|
0.00006
|
NM_002609.4(PDGFRB):c.2705C>T (p.Thr902Ile)
|
rs200865355
|
0.00006
|
NM_002609.4(PDGFRB):c.377G>A (p.Gly126Asp)
|
rs371293050
|
0.00006
|
NM_003285.3(TNR):c.463T>A (p.Cys155Ser)
|
rs150331590
|
0.00006
|
NM_003560.4(PLA2G6):c.1849G>A (p.Val617Ile)
|
rs139579057
|
0.00006
|
NM_003560.4(PLA2G6):c.2240G>A (p.Arg747Gln)
|
rs376144077
|
0.00006
|
NM_003560.4(PLA2G6):c.2370T>G (p.Tyr790Ter)
|
rs121908680
|
0.00006
|
NM_003560.4(PLA2G6):c.901C>T (p.Arg301Cys)
|
rs367854265
|
0.00006
|
NM_003690.5(PRKRA):c.235+11A>G
|
rs753131558
|
0.00006
|
NM_003690.5(PRKRA):c.54T>C (p.Ser18=)
|
rs1235471739
|
0.00006
|
NM_003690.5(PRKRA):c.796G>A (p.Ala266Thr)
|
rs148050153
|
0.00006
|
NM_003719.5(PDE8B):c.2130G>A (p.Arg710=)
|
rs186052720
|
0.00006
|
NM_004082.5(DCTN1):c.1393-6T>C
|
rs72466491
|
0.00006
|
NM_004082.5(DCTN1):c.1470C>T (p.Asp490=)
|
rs199751168
|
0.00006
|
NM_004082.5(DCTN1):c.2002C>T (p.His668Tyr)
|
rs764443534
|
0.00006
|
NM_004082.5(DCTN1):c.2551C>G (p.Leu851Val)
|
rs72659379
|
0.00006
|
NM_004082.5(DCTN1):c.3010C>G (p.Leu1004Val)
|
rs758387062
|
0.00006
|
NM_004082.5(DCTN1):c.3132G>C (p.Thr1044=)
|
rs375157202
|
0.00006
|
NM_004082.5(DCTN1):c.336T>G (p.Ser112=)
|
rs371005095
|
0.00006
|
NM_004082.5(DCTN1):c.3557T>C (p.Met1186Thr)
|
rs145819459
|
0.00006
|
NM_004082.5(DCTN1):c.3623A>G (p.Lys1208Arg)
|
rs758026180
|
0.00006
|
NM_004082.5(DCTN1):c.3699+12C>T
|
rs372930172
|
0.00006
|
NM_004082.5(DCTN1):c.3728T>C (p.Val1243Ala)
|
rs762752851
|
0.00006
|
NM_004082.5(DCTN1):c.3776G>A (p.Arg1259Gln)
|
rs573184955
|
0.00006
|
NM_004082.5(DCTN1):c.394-10C>A
|
rs541163314
|
0.00006
|
NM_004082.5(DCTN1):c.420G>A (p.Pro140=)
|
rs375040197
|
0.00006
|
NM_004562.3(PRKN):c.*2488A>G
|
rs924577572
|
0.00006
|
NM_004562.3(PRKN):c.167T>A (p.Val56Glu)
|
rs137853059
|
0.00006
|
NM_004562.3(PRKN):c.744C>G (p.Val248=)
|
rs771437898
|
0.00006
|
NM_004562.3(PRKN):c.98G>A (p.Arg33Gln)
|
rs147757966
|
0.00006
|
NM_004736.4(XPR1):c.1887C>A (p.Ile629=)
|
rs761801981
|
0.00006
|
NM_006186.4(NR4A2):c.-227C>G
|
rs886054980
|
0.00006
|
NM_006186.4(NR4A2):c.360T>G (p.Val120=)
|
rs201399912
|
0.00006
|
NM_006186.4(NR4A2):c.657T>C (p.Ala219=)
|
rs769677341
|
0.00006
|
NM_007262.5(PARK7):c.328A>G (p.Thr110Ala)
|
rs45577037
|
0.00006
|
NM_012179.4(FBXO7):c.123-10T>G
|
rs200664364
|
0.00006
|
NM_012179.4(FBXO7):c.1506T>C (p.Asn502=)
|
rs765344006
|
0.00006
|
NM_012179.4(FBXO7):c.169A>G (p.Thr57Ala)
|
rs760306475
|
0.00006
|
NM_012179.4(FBXO7):c.839T>C (p.Leu280Pro)
|
rs776439796
|
0.00006
|
NM_013247.5(HTRA2):c.1056C>T (p.Ser352=)
|
rs781540048
|
0.00006
|
NM_018206.6(VPS35):c.1420C>G (p.Gln474Glu)
|
rs370401767
|
0.00006
|
NM_018206.6(VPS35):c.1912A>T (p.Met638Leu)
|
rs144997996
|
0.00006
|
NM_018206.6(VPS35):c.2320C>A (p.Leu774Met)
|
rs192419029
|
0.00006
|
NM_018206.6(VPS35):c.678C>T (p.Arg226=)
|
rs376845827
|
0.00006
|
NM_018713.3(SLC30A10):c.*172T>C
|
rs1383718158
|
0.00006
|
NM_018713.3(SLC30A10):c.1248C>T (p.Pro416=)
|
rs781687046
|
0.00006
|
NM_018713.3(SLC30A10):c.516C>G (p.Gly172=)
|
rs539271108
|
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.1895C>T (p.Ser632Leu)
|
rs376070950
|
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.6598A>T (p.Lys2200Ter)
|
rs141263564
|
0.00006
|
NM_025243.4(SLC19A3):c.*685G>A
|
rs886055759
|
0.00006
|
NM_025243.4(SLC19A3):c.1343T>C (p.Val448Ala)
|
rs201544540
|
0.00006
|
NM_025243.4(SLC19A3):c.335T>C (p.Phe112Ser)
|
rs200971390
|
0.00006
|
NM_025243.4(SLC19A3):c.494C>A (p.Ala165Glu)
|
rs144223086
|
0.00006
|
NM_025243.4(SLC19A3):c.522C>A (p.Val174=)
|
rs766224051
|
0.00006
|
NM_025243.4(SLC19A3):c.541T>C (p.Ser181Pro)
|
rs773971505
|
0.00006
|
NM_025243.4(SLC19A3):c.781G>A (p.Val261Ile)
|
rs779016400
|
0.00006
|
NM_025243.4(SLC19A3):c.941T>C (p.Ile314Thr)
|
rs746794574
|
0.00006
|
NM_032409.3(PINK1):c.*534A>G
|
rs553977557
|
0.00006
|
NM_032409.3(PINK1):c.1011C>T (p.Arg337=)
|
rs149187537
|
0.00006
|
NM_032409.3(PINK1):c.1023G>A (p.Met341Ile)
|
rs35813094
|
0.00006
|
NM_032409.3(PINK1):c.1096G>A (p.Asp366Asn)
|
rs200729715
|
0.00006
|
NM_032409.3(PINK1):c.1382T>G (p.Leu461Arg)
|
rs144440543
|
0.00006
|
NM_032409.3(PINK1):c.1488+15G>A
|
rs377527008
|
0.00006
|
NM_032409.3(PINK1):c.267C>T (p.Ala89=)
|
rs770933972
|
0.00006
|
NM_032409.3(PINK1):c.852C>T (p.Ser284=)
|
rs368453193
|
0.00006
|
NM_152296.4(ATP1A3):c.-186G>A
|
rs886054478
|
0.00006
|
NM_152296.5(ATP1A3):c.*13C>A
|
rs781878302
|
0.00006
|
NM_152296.5(ATP1A3):c.-64A>G
|
rs373531937
|
0.00006
|
NM_152296.5(ATP1A3):c.1368C>T (p.Ser456=)
|
rs782325595
|
0.00006
|
NM_152296.5(ATP1A3):c.191G>A (p.Arg64Gln)
|
rs201573515
|
0.00006
|
NM_152296.5(ATP1A3):c.1923C>T (p.Pro641=)
|
rs370996990
|
0.00006
|
NM_152296.5(ATP1A3):c.1959C>T (p.Cys653=)
|
rs782105093
|
0.00006
|
NM_152296.5(ATP1A3):c.2139C>G (p.Pro713=)
|
rs141362710
|
0.00006
|
NM_152296.5(ATP1A3):c.2542+11G>A
|
rs78146024
|
0.00006
|
NM_152296.5(ATP1A3):c.2819+10G>A
|
rs782236178
|
0.00006
|
NM_152296.5(ATP1A3):c.2886C>T (p.Pro962=)
|
rs141412861
|
0.00006
|
NM_152296.5(ATP1A3):c.357+9C>G
|
rs782403205
|
0.00006
|
NM_152296.5(ATP1A3):c.55C>T (p.Arg19Cys)
|
rs782229302
|
0.00006
|
NM_152296.5(ATP1A3):c.739G>A (p.Val247Met)
|
rs782227665
|
0.00006
|
NM_152296.5(ATP1A3):c.753G>A (p.Thr251=)
|
rs782459932
|
0.00006
|
NM_181575.5(AUP1):c.141C>T (p.Ile47=)
|
rs71640291
|
0.00006
|
NM_198241.3(EIF4G1):c.3824T>A (p.Leu1275His)
|
rs550525876
|
0.00006
|
NM_198578.4(LRRK2):c.344A>C (p.His115Pro)
|
rs201439315
|
0.00006
|
NM_198578.4(LRRK2):c.382A>G (p.Ser128Gly)
|
rs187299177
|
0.00006
|
NM_198578.4(LRRK2):c.4162C>A (p.Leu1388Ile)
|
rs201453370
|
0.00006
|
NM_198578.4(LRRK2):c.4323C>T (p.Arg1441=)
|
rs112998035
|
0.00006
|
NM_198578.4(LRRK2):c.4627A>G (p.Ile1543Val)
|
rs201540075
|
0.00006
|
NM_198578.4(LRRK2):c.4943A>G (p.Gln1648Arg)
|
rs200143418
|
0.00006
|
NM_198578.4(LRRK2):c.546A>G (p.Lys182=)
|
rs35517158
|
0.00006
|
NM_198578.4(LRRK2):c.5657-9T>C
|
rs201705389
|
0.00006
|
NM_198578.4(LRRK2):c.6928A>G (p.Thr2310Ala)
|
rs202179802
|
0.00006
|
NM_198578.4(LRRK2):c.699G>A (p.Ala233=)
|
rs577327683
|
0.00006
|
NM_203446.3(SYNJ1):c.*257G>T
|
rs112469776
|
0.00006
|
NM_203446.3(SYNJ1):c.*411C>T
|
rs369666497
|
0.00006
|
NM_203446.3(SYNJ1):c.*709C>T
|
rs912535820
|
0.00006
|
NM_203446.3(SYNJ1):c.-31G>C
|
rs751083536
|
0.00006
|
NM_203446.3(SYNJ1):c.-42A>G
|
rs988950141
|
0.00006
|
NM_203446.3(SYNJ1):c.1045A>G (p.Ser349Gly)
|
rs202234473
|
0.00006
|
NM_203446.3(SYNJ1):c.1106G>A (p.Ser369Asn)
|
rs147544792
|
0.00006
|
NM_203446.3(SYNJ1):c.1245T>C (p.Pro415=)
|
rs111655347
|
0.00006
|
NM_203446.3(SYNJ1):c.1508G>A (p.Arg503His)
|
rs756697570
|
0.00006
|
NM_203446.3(SYNJ1):c.1968T>C (p.Asp656=)
|
rs140112176
|
0.00006
|
NM_203446.3(SYNJ1):c.2157A>G (p.Leu719=)
|
rs112875942
|
0.00006
|
NM_203446.3(SYNJ1):c.2580-20A>G
|
rs770095122
|
0.00006
|
NM_203446.3(SYNJ1):c.2885G>A (p.Arg962Gln)
|
rs371117480
|
0.00006
|
NM_203446.3(SYNJ1):c.2909G>C (p.Ser970Thr)
|
rs537389515
|
0.00006
|
NM_203446.3(SYNJ1):c.2955A>G (p.Lys985=)
|
rs534726886
|
0.00006
|
NM_203446.3(SYNJ1):c.3340G>A (p.Val1114Ile)
|
rs527362526
|
0.00006
|
NM_203446.3(SYNJ1):c.3392-5A>G
|
rs776721216
|
0.00006
|
NM_203446.3(SYNJ1):c.3587C>T (p.Pro1196Leu)
|
rs61752550
|
0.00006
|
NM_203446.3(SYNJ1):c.3697+12T>G
|
rs763338383
|
0.00006
|
NM_203446.3(SYNJ1):c.3764C>T (p.Pro1255Leu)
|
rs141785091
|
0.00006
|
NM_203446.3(SYNJ1):c.3767C>T (p.Pro1256Leu)
|
rs147025577
|
0.00006
|
NM_203446.3(SYNJ1):c.517G>A (p.Val173Met)
|
rs756663722
|
0.00006
|
NM_001044.5(SLC6A3):c.1269C>T (p.Ala423=)
|
rs200757674
|
0.00005
|
NM_001044.5(SLC6A3):c.822C>T (p.Tyr274=)
|
rs777377892
|
0.00005
|
NM_001044.5(SLC6A3):c.895A>G (p.Ser299Gly)
|
rs571552841
|
0.00005
|
NM_001044.5(SLC6A3):c.928-18C>T
|
rs373449776
|
0.00005
|
NM_001103146.3(GIGYF2):c.2378C>T (p.Ala793Val)
|
rs748538823
|
0.00005
|
NM_001135674.2(SMIM19):c.-407C>T
|
rs879904962
|
0.00005
|
NM_001256864.2(DNAJC6):c.1194-9C>G
|
rs370864885
|
0.00005
|
NM_001256864.2(DNAJC6):c.264G>A (p.Gly88=)
|
rs139946043
|
0.00005
|
NM_001256864.2(DNAJC6):c.2838C>T (p.Tyr946=)
|
rs148209150
|
0.00005
|
NM_001256864.2(DNAJC6):c.844C>T (p.Arg282Cys)
|
rs141833490
|
0.00005
|
NM_001257180.2(SLC20A2):c.1897G>T (p.Ala633Ser)
|
rs147025172
|
0.00005
|
NM_001382273.1(TNK2):c.1088T>C (p.Val363Ala)
|
rs370013968
|
0.00005
|
NM_002609.4(PDGFRB):c.1437C>T (p.Asn479=)
|
rs371550567
|
0.00005
|
NM_002609.4(PDGFRB):c.968G>A (p.Gly323Asp)
|
rs374208706
|
0.00005
|
NM_003560.4(PLA2G6):c.1649G>A (p.Arg550Gln)
|
rs376051062
|
0.00005
|
NM_003690.5(PRKRA):c.380C>T (p.Pro127Leu)
|
rs75862065
|
0.00005
|
NM_003690.5(PRKRA):c.851G>T (p.Cys284Phe)
|
rs199725025
|
0.00005
|
NM_003719.5(PDE8B):c.1107-6T>A
|
rs367814038
|
0.00005
|
NM_004082.5(DCTN1):c.159C>T (p.Ala53=)
|
rs759530214
|
0.00005
|
NM_004082.5(DCTN1):c.2318G>T (p.Gly773Val)
|
rs754657052
|
0.00005
|
NM_004082.5(DCTN1):c.2559C>T (p.Ala853=)
|
rs770872113
|
0.00005
|
NM_004082.5(DCTN1):c.2628+18G>A
|
rs770747593
|
0.00005
|
NM_004082.5(DCTN1):c.3137A>G (p.Glu1046Gly)
|
rs145857843
|
0.00005
|
NM_004082.5(DCTN1):c.3158C>T (p.Pro1053Leu)
|
rs752079233
|
0.00005
|
NM_004082.5(DCTN1):c.3215C>G (p.Ala1072Gly)
|
rs780875333
|
0.00005
|
NM_004082.5(DCTN1):c.35C>T (p.Thr12Met)
|
rs72659364
|
0.00005
|
NM_004082.5(DCTN1):c.393+7G>A
|
rs778904039
|
0.00005
|
NM_004082.5(DCTN1):c.446G>A (p.Arg149Gln)
|
rs149447433
|
0.00005
|
NM_004082.5(DCTN1):c.450C>T (p.Pro150=)
|
rs762745227
|
0.00005
|
NM_004082.5(DCTN1):c.60G>A (p.Ala20=)
|
rs150204862
|
0.00005
|
NM_004181.5(UCHL1):c.533G>A (p.Arg178Gln)
|
rs768996179
|
0.00005
|
NM_004562.3(PRKN):c.1321T>C (p.Cys441Arg)
|
rs778305273
|
0.00005
|
NM_004606.5(TAF1):c.4521G>A (p.Ala1507=)
|
rs758753633
|
0.00005
|
NM_004736.4(XPR1):c.2018G>A (p.Arg673His)
|
rs368909346
|
0.00005
|
NM_012179.4(FBXO7):c.1221G>A (p.Pro407=)
|
rs201127594
|
0.00005
|
NM_018206.6(VPS35):c.*345T>G
|
rs1006640513
|
0.00005
|
NM_018206.6(VPS35):c.*380G>A
|
rs886052004
|
0.00005
|
NM_020821.3(VPS13C):c.1409G>A (p.Arg470His)
|
rs142155201
|
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_025243.4(SLC19A3):c.*176A>G
|
rs886055761
|
0.00005
|
NM_025243.4(SLC19A3):c.*2129A>G
|
rs561270970
|
0.00005
|
NM_025243.4(SLC19A3):c.-60C>T
|
rs372251558
|
0.00005
|
NM_025243.4(SLC19A3):c.1355T>C (p.Ile452Thr)
|
rs140706520
|
0.00005
|
NM_025243.4(SLC19A3):c.400G>A (p.Glu134Lys)
|
rs755314399
|
0.00005
|
NM_025243.4(SLC19A3):c.482T>C (p.Leu161Ser)
|
rs749604833
|
0.00005
|
NM_025243.4(SLC19A3):c.980G>A (p.Gly327Glu)
|
rs1248803297
|
0.00005
|
NM_032409.3(PINK1):c.1065A>G (p.Gln355=)
|
rs370470902
|
0.00005
|
NM_032409.3(PINK1):c.770C>T (p.Thr257Ile)
|
rs370906995
|
0.00005
|
NM_032409.3(PINK1):c.802C>G (p.Leu268Val)
|
rs372280083
|
0.00005
|
NM_152296.5(ATP1A3):c.1005G>A (p.Thr335=)
|
rs781976856
|
0.00005
|
NM_152296.5(ATP1A3):c.1437+17G>A
|
rs371469761
|
0.00005
|
NM_152296.5(ATP1A3):c.1924G>A (p.Val642Ile)
|
rs201391210
|
0.00005
|
NM_152296.5(ATP1A3):c.2325G>A (p.Pro775=)
|
rs150943961
|
0.00005
|
NM_152296.5(ATP1A3):c.2689-19C>G
|
rs781881227
|
0.00005
|
NM_152296.5(ATP1A3):c.3014-11T>C
|
rs868980016
|
0.00005
|
NM_152296.5(ATP1A3):c.357+15C>A
|
rs782291161
|
0.00005
|
NM_152296.5(ATP1A3):c.472-13C>T
|
rs557984701
|
0.00005
|
NM_152296.5(ATP1A3):c.786C>T (p.Thr262=)
|
rs74581050
|
0.00005
|
NM_152296.5(ATP1A3):c.858C>T (p.Thr286=)
|
rs368998149
|
0.00005
|
NM_152296.5(ATP1A3):c.994-4C>G
|
rs373698149
|
0.00005
|
NM_198578.4(LRRK2):c.1473G>T (p.Met491Ile)
|
rs200955457
|
0.00005
|
NM_198578.4(LRRK2):c.1476A>G (p.Lys492=)
|
rs748115010
|
0.00005
|
NM_198578.4(LRRK2):c.1829T>C (p.Ile610Thr)
|
rs566811888
|
0.00005
|
NM_198578.4(LRRK2):c.1874A>G (p.His625Arg)
|
rs200787476
|
0.00005
|
NM_198578.4(LRRK2):c.2159A>G (p.Asn720Ser)
|
rs71653639
|
0.00005
|
NM_198578.4(LRRK2):c.2714A>T (p.Lys905Ile)
|
rs140851697
|
0.00005
|
NM_198578.4(LRRK2):c.3939T>A (p.Cys1313Ter)
|
rs183902574
|
0.00005
|
NM_198578.4(LRRK2):c.4881G>A (p.Ser1627=)
|
rs767307387
|
0.00005
|
NM_198578.4(LRRK2):c.5827C>T (p.Arg1943Trp)
|
rs756387719
|
0.00005
|
NM_198578.4(LRRK2):c.6422C>T (p.Thr2141Met)
|
rs111691891
|
0.00005
|
NM_203446.3(SYNJ1):c.*618A>G
|
rs139212871
|
0.00005
|
NM_203446.3(SYNJ1):c.*690G>A
|
rs559102258
|
0.00005
|
NM_203446.3(SYNJ1):c.*721C>T
|
rs748387512
|
0.00005
|
NM_203446.3(SYNJ1):c.1119-7G>C
|
rs562245468
|
0.00005
|
NM_203446.3(SYNJ1):c.1510+20T>C
|
rs112067922
|
0.00005
|
NM_203446.3(SYNJ1):c.1535C>T (p.Ala512Val)
|
rs115989459
|
0.00005
|
NM_203446.3(SYNJ1):c.2172T>C (p.Tyr724=)
|
rs144454116
|
0.00005
|
NM_203446.3(SYNJ1):c.2250T>A (p.Asn750Lys)
|
rs570501803
|
0.00005
|
NM_203446.3(SYNJ1):c.2884C>T (p.Arg962Trp)
|
rs149147152
|
0.00005
|
NM_203446.3(SYNJ1):c.2976A>G (p.Ser992=)
|
rs115204185
|
0.00005
|
NM_203446.3(SYNJ1):c.3370C>G (p.Gln1124Glu)
|
rs768503724
|
0.00005
|
NM_203446.3(SYNJ1):c.3378T>A (p.Pro1126=)
|
rs376132504
|
0.00005
|
NM_000157.4(GBA1):c.887G>A (p.Arg296Gln)
|
rs78973108
|
0.00004
|
NM_000157.4(GBA1):c.928A>G (p.Ser310Gly)
|
rs1057942
|
0.00004
|
NM_001044.5(SLC6A3):c.1037C>T (p.Ala346Val)
|
rs202173303
|
0.00004
|
NM_001044.5(SLC6A3):c.1157-15C>T
|
rs375416292
|
0.00004
|
NM_001044.5(SLC6A3):c.1269+20C>T
|
rs951684585
|
0.00004
|
NM_001044.5(SLC6A3):c.1364C>T (p.Ala455Val)
|
rs370907238
|
0.00004
|
NM_001044.5(SLC6A3):c.1410C>T (p.Tyr470=)
|
rs777317571
|
0.00004
|
NM_001044.5(SLC6A3):c.1440C>T (p.Ala480=)
|
rs766191360
|
0.00004
|
NM_001044.5(SLC6A3):c.1602C>T (p.Phe534=)
|
rs138475489
|
0.00004
|
NM_001044.5(SLC6A3):c.1829G>A (p.Arg610His)
|
rs200431667
|
0.00004
|
NM_001044.5(SLC6A3):c.1dup (p.Met1fs)
|
rs755504692
|
0.00004
|
NM_001044.5(SLC6A3):c.360C>T (p.Leu120=)
|
rs148447720
|
0.00004
|
NM_001044.5(SLC6A3):c.444C>A (p.Ile148=)
|
rs186229286
|
0.00004
|
NM_001044.5(SLC6A3):c.495C>T (p.His165=)
|
rs1052784707
|
0.00004
|
NM_001044.5(SLC6A3):c.498T>C (p.Tyr166=)
|
rs376593673
|
0.00004
|
NM_001044.5(SLC6A3):c.580C>T (p.Pro194Ser)
|
rs756042082
|
0.00004
|
NM_001044.5(SLC6A3):c.924G>A (p.Ala308=)
|
rs530952208
|
0.00004
|
NM_001135674.2(SMIM19):c.-386G>A
|
rs969584653
|
0.00004
|
NM_001256864.2(DNAJC6):c.119G>T (p.Arg40Ile)
|
rs754115488
|
0.00004
|
NM_001256864.2(DNAJC6):c.1350T>C (p.Ser450=)
|
rs202109326
|
0.00004
|
NM_001256864.2(DNAJC6):c.1374G>A (p.Thr458=)
|
rs148673423
|
0.00004
|
NM_001256864.2(DNAJC6):c.1852C>T (p.Arg618Cys)
|
rs377366345
|
0.00004
|
NM_001256864.2(DNAJC6):c.186C>T (p.Asp62=)
|
rs371984320
|
0.00004
|
NM_001256864.2(DNAJC6):c.2212G>A (p.Asp738Asn)
|
rs140156759
|
0.00004
|
NM_001256864.2(DNAJC6):c.2310G>A (p.Ala770=)
|
rs113490907
|
0.00004
|
NM_001256864.2(DNAJC6):c.2443G>T (p.Ala815Ser)
|
rs369274494
|
0.00004
|
NM_001256864.2(DNAJC6):c.2526A>G (p.Leu842=)
|
rs753691766
|
0.00004
|
NM_001256864.2(DNAJC6):c.2839G>A (p.Ala947Thr)
|
rs755391548
|
0.00004
|
NM_001257180.2(SLC20A2):c.1849C>T (p.Arg617Cys)
|
rs537867998
|
0.00004
|
NM_001377265.1(MAPT):c.10C>A (p.Pro4Thr)
|
rs974837695
|
0.00004
|
NM_001377265.1(MAPT):c.1807C>T (p.Arg603Cys)
|
rs770274373
|
0.00004
|
NM_001377265.1(MAPT):c.1881G>A (p.Ser627=)
|
rs115142761
|
0.00004
|
NM_001382273.1(TNK2):c.2981C>T (p.Ala994Val)
|
rs571171423
|
0.00004
|
NM_002609.4(PDGFRB):c.1243+18C>T
|
rs199897509
|
0.00004
|
NM_002609.4(PDGFRB):c.1536C>T (p.Asn512=)
|
rs186555112
|
0.00004
|
NM_002609.4(PDGFRB):c.2268C>T (p.Asp756=)
|
rs56112987
|
0.00004
|
NM_002609.4(PDGFRB):c.2463+4C>T
|
rs557338313
|
0.00004
|
NM_002609.4(PDGFRB):c.2484G>A (p.Ala828=)
|
rs143342011
|
0.00004
|
NM_002609.4(PDGFRB):c.2919G>A (p.Val973=)
|
rs370594710
|
0.00004
|
NM_002609.4(PDGFRB):c.3033C>T (p.Ala1011=)
|
rs375836509
|
0.00004
|
NM_002609.4(PDGFRB):c.3102C>T (p.Asp1034=)
|
rs569140859
|
0.00004
|
NM_002609.4(PDGFRB):c.330C>T (p.Thr110=)
|
rs755333624
|
0.00004
|
NM_002609.4(PDGFRB):c.331G>A (p.Asp111Asn)
|
rs558122968
|
0.00004
|
NM_003560.4(PLA2G6):c.2221C>T (p.Arg741Trp)
|
rs530348521
|
0.00004
|
NM_003560.4(PLA2G6):c.395G>A (p.Arg132His)
|
rs763734863
|
0.00004
|
NM_003560.4(PLA2G6):c.481C>T (p.Arg161Cys)
|
rs767260174
|
0.00004
|
NM_003560.4(PLA2G6):c.854G>A (p.Arg285His)
|
rs372511574
|
0.00004
|
NM_003560.4(PLA2G6):c.898G>A (p.Ala300Thr)
|
rs528966598
|
0.00004
|
NM_003690.5(PRKRA):c.261G>A (p.Ala87=)
|
rs778921785
|
0.00004
|
NM_003690.5(PRKRA):c.65+10C>T
|
rs535076601
|
0.00004
|
NM_003719.5(PDE8B):c.*1011A>G
|
rs560626172
|
0.00004
|
NM_003719.5(PDE8B):c.2343C>T (p.Asp781=)
|
rs558853134
|
0.00004
|
NM_004082.5(DCTN1):c.-162G>A
|
rs1292504283
|
0.00004
|
NM_004082.5(DCTN1):c.122G>A (p.Arg41Gln)
|
rs752399708
|
0.00004
|
NM_004082.5(DCTN1):c.1324A>G (p.Met442Val)
|
rs763480310
|
0.00004
|
NM_004082.5(DCTN1):c.1822G>A (p.Val608Met)
|
rs780858230
|
0.00004
|
NM_004082.5(DCTN1):c.1936G>T (p.Ala646Ser)
|
rs146865209
|
0.00004
|
NM_004082.5(DCTN1):c.2090G>A (p.Arg697His)
|
rs758712765
|
0.00004
|
NM_004082.5(DCTN1):c.2184+18G>T
|
rs376497087
|
0.00004
|
NM_004082.5(DCTN1):c.2209G>A (p.Glu737Lys)
|
rs377183051
|
0.00004
|
NM_004082.5(DCTN1):c.2339T>C (p.Ile780Thr)
|
rs374163967
|
0.00004
|
NM_004082.5(DCTN1):c.2467-17T>A
|
rs371136234
|
0.00004
|
NM_004082.5(DCTN1):c.259A>G (p.Ile87Val)
|
rs969750631
|
0.00004
|
NM_004082.5(DCTN1):c.2646C>T (p.Ser882=)
|
rs191073199
|
0.00004
|
NM_004082.5(DCTN1):c.2647A>T (p.Ser883Cys)
|
rs747769504
|
0.00004
|
NM_004082.5(DCTN1):c.2747G>A (p.Arg916Gln)
|
rs375079576
|
0.00004
|
NM_004082.5(DCTN1):c.2952C>G (p.Ala984=)
|
rs371241720
|
0.00004
|
NM_004082.5(DCTN1):c.3075G>A (p.Gln1025=)
|
rs367898436
|
0.00004
|
NM_004082.5(DCTN1):c.3212-6C>A
|
rs750104562
|
0.00004
|
NM_004082.5(DCTN1):c.3353A>T (p.Gln1118Leu)
|
rs1357089479
|
0.00004
|
NM_004082.5(DCTN1):c.3518G>A (p.Arg1173His)
|
rs980920477
|
0.00004
|
NM_004082.5(DCTN1):c.3533C>T (p.Ala1178Val)
|
rs775442446
|
0.00004
|
NM_004082.5(DCTN1):c.3597C>T (p.Val1199=)
|
rs767954436
|
0.00004
|
NM_004082.5(DCTN1):c.3640C>T (p.Arg1214Cys)
|
rs759373031
|
0.00004
|
NM_004082.5(DCTN1):c.3654A>G (p.Thr1218=)
|
rs774374037
|
0.00004
|
NM_004082.5(DCTN1):c.3758C>T (p.Ala1253Val)
|
rs1026036256
|
0.00004
|
NM_004082.5(DCTN1):c.3782G>A (p.Arg1261Gln)
|
rs553822174
|
0.00004
|
NM_004082.5(DCTN1):c.45C>T (p.Gly15=)
|
rs72466483
|
0.00004
|
NM_004082.5(DCTN1):c.559G>T (p.Ala187Ser)
|
rs960727301
|
0.00004
|
NM_004082.5(DCTN1):c.654G>A (p.Glu218=)
|
rs758731839
|
0.00004
|
NM_004082.5(DCTN1):c.673C>T (p.Arg225Trp)
|
rs371723224
|
0.00004
|
NM_004082.5(DCTN1):c.824G>A (p.Arg275His)
|
rs375266113
|
0.00004
|
NM_004181.5(UCHL1):c.-26C>T
|
rs746877403
|
0.00004
|
NM_004562.3(PRKN):c.*2214C>T
|
rs967885779
|
0.00004
|
NM_004562.3(PRKN):c.-85G>A
|
rs556535340
|
0.00004
|
NM_004562.3(PRKN):c.1000C>T (p.Arg334Cys)
|
rs199657839
|
0.00004
|
NM_004562.3(PRKN):c.1364G>A (p.Arg455His)
|
rs748955949
|
0.00004
|
NM_004562.3(PRKN):c.219G>A (p.Pro73=)
|
rs139083077
|
0.00004
|
NM_004562.3(PRKN):c.276G>A (p.Ala92=)
|
rs200256562
|
0.00004
|
NM_004562.3(PRKN):c.353G>C (p.Gly118Ala)
|
rs144001694
|
0.00004
|
NM_004562.3(PRKN):c.761A>G (p.Asn254Ser)
|
rs139600787
|
0.00004
|
NM_004562.3(PRKN):c.814C>A (p.Leu272Ile)
|
rs141366047
|
0.00004
|
NM_004562.3(PRKN):c.838G>A (p.Asp280Asn)
|
rs72480422
|
0.00004
|
NM_006186.4(NR4A2):c.1163A>T (p.Gln388Leu)
|
rs767330388
|
0.00004
|
NM_007262.5(PARK7):c.-80T>A
|
rs140230911
|
0.00004
|
NM_007262.5(PARK7):c.429G>A (p.Glu143=)
|
rs140517273
|
0.00004
|
NM_007262.5(PARK7):c.471_473del (p.Pro158del)
|
rs764877312
|
0.00004
|
NM_007262.5(PARK7):c.91-5C>T
|
rs539876064
|
0.00004
|
NM_012179.4(FBXO7):c.1385G>T (p.Ser462Ile)
|
rs149552421
|
0.00004
|
NM_012179.4(FBXO7):c.1535G>A (p.Gly512Asp)
|
rs142471722
|
0.00004
|
NM_015268.4(DNAJC13):c.2564A>G (p.Asn855Ser)
|
rs387907571
|
0.00004
|
NM_018206.6(VPS35):c.*276A>C
|
rs886052009
|
0.00004
|
NM_018206.6(VPS35):c.110A>G (p.Asn37Ser)
|
rs777006799
|
0.00004
|
NM_018206.6(VPS35):c.1142A>G (p.Asn381Ser)
|
rs754978683
|
0.00004
|
NM_018713.3(SLC30A10):c.1399G>A (p.Gly467Arg)
|
rs372826011
|
0.00004
|
NM_018713.3(SLC30A10):c.676A>G (p.Met226Val)
|
rs199783843
|
0.00004
|
NM_020821.3(VPS13C):c.7274C>T (p.Thr2425Met)
|
rs547200034
|
0.00004
|
NM_022089.4(ATP13A2):c.*155C>T
|
rs762111359
|
0.00004
|
NM_022089.4(ATP13A2):c.-151C>T
|
rs886045583
|
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.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.2629G>A (p.Gly877Arg)
|
rs144701072
|
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_025243.4(SLC19A3):c.*1072A>C
|
rs886055755
|
0.00004
|
NM_025243.4(SLC19A3):c.*1264A>G
|
rs553308770
|
0.00004
|
NM_025243.4(SLC19A3):c.*59T>C
|
rs991975369
|
0.00004
|
NM_025243.4(SLC19A3):c.1314+11A>G
|
rs985701788
|
0.00004
|
NM_025243.4(SLC19A3):c.1442T>C (p.Val481Ala)
|
rs779422483
|
0.00004
|
NM_025243.4(SLC19A3):c.172G>A (p.Val58Ile)
|
rs200412423
|
0.00004
|
NM_025243.4(SLC19A3):c.337T>C (p.Tyr113His)
|
rs145999922
|
0.00004
|
NM_025243.4(SLC19A3):c.745C>T (p.Leu249=)
|
rs143662945
|
0.00004
|
NM_032409.3(PINK1):c.1003A>G (p.Ser335Gly)
|
rs144330127
|
0.00004
|
NM_032409.3(PINK1):c.1040T>C (p.Leu347Pro)
|
rs28940285
|
0.00004
|
NM_032409.3(PINK1):c.1121C>G (p.Pro374Arg)
|
rs1200609271
|
0.00004
|
NM_032409.3(PINK1):c.1153T>C (p.Phe385Leu)
|
rs763416852
|
0.00004
|
NM_032409.3(PINK1):c.1366C>T (p.Gln456Ter)
|
rs45539432
|
0.00004
|
NM_032409.3(PINK1):c.139G>C (p.Gly47Arg)
|
rs746940423
|
0.00004
|
NM_032409.3(PINK1):c.1474C>T (p.Arg492Ter)
|
rs34208370
|
0.00004
|
NM_032409.3(PINK1):c.1544A>G (p.His515Arg)
|
rs141363209
|
0.00004
|
NM_032409.3(PINK1):c.199C>T (p.Leu67Phe)
|
rs763142730
|
0.00004
|
NM_032409.3(PINK1):c.429G>A (p.Leu143=)
|
rs554567650
|
0.00004
|
NM_032409.3(PINK1):c.620G>A (p.Arg207Gln)
|
rs759468742
|
0.00004
|
NM_032409.3(PINK1):c.865C>A (p.Pro289Thr)
|
rs777088052
|
0.00004
|
NM_152296.5(ATP1A3):c.1017G>A (p.Lys339=)
|
rs140106872
|
0.00004
|
NM_152296.5(ATP1A3):c.1134C>T (p.Val378=)
|
rs180710845
|
0.00004
|
NM_152296.5(ATP1A3):c.1438-10C>T
|
rs200271372
|
0.00004
|
NM_152296.5(ATP1A3):c.1467C>T (p.Asn489=)
|
rs138797500
|
0.00004
|
NM_152296.5(ATP1A3):c.1527C>T (p.Ser509=)
|
rs199625170
|
0.00004
|
NM_152296.5(ATP1A3):c.1821C>T (p.Thr607=)
|
rs782381694
|
0.00004
|
NM_152296.5(ATP1A3):c.1824C>T (p.Gly608=)
|
rs782288263
|
0.00004
|
NM_152296.5(ATP1A3):c.1884C>T (p.Asn628=)
|
rs144130986
|
0.00004
|
NM_152296.5(ATP1A3):c.1974C>T (p.Thr658=)
|
rs145869619
|
0.00004
|
NM_152296.5(ATP1A3):c.2040C>T (p.Phe680=)
|
rs372836589
|
0.00004
|
NM_152296.5(ATP1A3):c.204C>T (p.Asn68=)
|
rs148043407
|
0.00004
|
NM_152296.5(ATP1A3):c.2094+15C>T
|
rs782378908
|
0.00004
|
NM_152296.5(ATP1A3):c.2094+9C>T
|
rs369771087
|
0.00004
|
NM_152296.5(ATP1A3):c.2190C>T (p.Asp730=)
|
rs202060210
|
0.00004
|
NM_152296.5(ATP1A3):c.2221C>T (p.Leu741=)
|
rs1302739794
|
0.00004
|
NM_152296.5(ATP1A3):c.2439G>A (p.Ala813=)
|
rs189555627
|
0.00004
|
NM_152296.5(ATP1A3):c.243G>A (p.Lys81=)
|
rs782433549
|
0.00004
|
NM_152296.5(ATP1A3):c.2634G>A (p.Leu878=)
|
rs782293282
|
0.00004
|
NM_152296.5(ATP1A3):c.2689-17G>T
|
rs370286197
|
0.00004
|
NM_152296.5(ATP1A3):c.2885C>A (p.Pro962His)
|
rs145179304
|
0.00004
|
NM_152296.5(ATP1A3):c.2895C>T (p.Asp965=)
|
rs782437931
|
0.00004
|
NM_152296.5(ATP1A3):c.472-5C>G
|
rs372041397
|
0.00004
|
NM_152296.5(ATP1A3):c.861C>T (p.Gly287=)
|
rs539729675
|
0.00004
|
NM_152296.5(ATP1A3):c.994-13G>A
|
rs372105495
|
0.00004
|
NM_152296.5(ATP1A3):c.99G>A (p.Glu33=)
|
rs35429923
|
0.00004
|
NM_198578.4(LRRK2):c.-74C>A
|
rs1422910994
|
0.00004
|
NM_198578.4(LRRK2):c.1289-6del
|
rs758855054
|
0.00004
|
NM_198578.4(LRRK2):c.1546A>G (p.Met516Val)
|
rs746747483
|
0.00004
|
NM_198578.4(LRRK2):c.155C>T (p.Ser52Phe)
|
rs72546335
|
0.00004
|
NM_198578.4(LRRK2):c.2025A>G (p.Ile675Met)
|
rs201162329
|
0.00004
|
NM_198578.4(LRRK2):c.2689+17A>G
|
rs938086487
|
0.00004
|
NM_198578.4(LRRK2):c.2758G>A (p.Ala920Thr)
|
rs201184634
|
0.00004
|
NM_198578.4(LRRK2):c.2761G>A (p.Val921Ile)
|
rs145926545
|
0.00004
|
NM_198578.4(LRRK2):c.2809-19A>G
|
rs747106690
|
0.00004
|
NM_198578.4(LRRK2):c.3018A>G (p.Ile1006Met)
|
rs113217062
|
0.00004
|
NM_198578.4(LRRK2):c.3574A>G (p.Ile1192Val)
|
rs281865047
|
0.00004
|
NM_198578.4(LRRK2):c.3595C>T (p.Arg1199Trp)
|
rs746433333
|
0.00004
|
NM_198578.4(LRRK2):c.3846A>T (p.Arg1282Ser)
|
rs886344692
|
0.00004
|
NM_198578.4(LRRK2):c.3969A>G (p.Gln1323=)
|
rs372245035
|
0.00004
|
NM_198578.4(LRRK2):c.3993T>G (p.Pro1331=)
|
rs141293633
|
0.00004
|
NM_198578.4(LRRK2):c.4959A>G (p.Leu1653=)
|
rs111503579
|
0.00004
|
NM_198578.4(LRRK2):c.5154C>T (p.Tyr1718=)
|
rs150450334
|
0.00004
|
NM_198578.4(LRRK2):c.6688G>A (p.Glu2230Lys)
|
rs201317931
|
0.00004
|
NM_198578.4(LRRK2):c.6900G>A (p.Leu2300=)
|
rs906855468
|
0.00004
|
NM_198578.4(LRRK2):c.6929C>T (p.Thr2310Met)
|
rs200002022
|
0.00004
|
NM_198578.4(LRRK2):c.750T>C (p.Tyr250=)
|
rs139971538
|
0.00004
|
NM_203446.2(SYNJ1):c.7A>C (p.Lys3Gln)
|
rs1037328706
|
0.00004
|
NM_203446.3(SYNJ1):c.*41C>T
|
rs570298309
|
0.00004
|
NM_203446.3(SYNJ1):c.*541G>A
|
rs770188528
|
0.00004
|
NM_203446.3(SYNJ1):c.*793G>T
|
rs536572904
|
0.00004
|
NM_203446.3(SYNJ1):c.-12G>T
|
rs1040540690
|
0.00004
|
NM_203446.3(SYNJ1):c.1744A>G (p.Thr582Ala)
|
rs370817503
|
0.00004
|
NM_203446.3(SYNJ1):c.1914G>A (p.Leu638=)
|
rs534908601
|
0.00004
|
NM_203446.3(SYNJ1):c.211+19A>G
|
rs553611765
|
0.00004
|
NM_203446.3(SYNJ1):c.2217C>T (p.Asn739=)
|
rs753774552
|
0.00004
|
NM_203446.3(SYNJ1):c.2396G>C (p.Cys799Ser)
|
rs148265063
|
0.00004
|
NM_203446.3(SYNJ1):c.2461+4G>A
|
rs538934316
|
0.00004
|
NM_203446.3(SYNJ1):c.2586C>T (p.Val862=)
|
rs771973400
|
0.00004
|
NM_203446.3(SYNJ1):c.2814G>A (p.Met938Ile)
|
rs546854566
|
0.00004
|
NM_203446.3(SYNJ1):c.2861T>G (p.Leu954Arg)
|
rs755535504
|
0.00004
|
NM_203446.3(SYNJ1):c.3248-18C>T
|
rs538157711
|
0.00004
|
NM_203446.3(SYNJ1):c.3261C>T (p.Asp1087=)
|
rs923667676
|
0.00004
|
NM_203446.3(SYNJ1):c.3391+6A>C
|
rs745914222
|
0.00004
|
NM_203446.3(SYNJ1):c.3392-20A>G
|
rs375300586
|
0.00004
|
NM_203446.3(SYNJ1):c.359G>A (p.Arg120Gln)
|
rs768435291
|
0.00004
|
NM_203446.3(SYNJ1):c.3602G>A (p.Arg1201His)
|
rs376836481
|
0.00004
|
NM_203446.3(SYNJ1):c.3811A>G (p.Met1271Val)
|
rs751069566
|
0.00004
|
NM_203446.3(SYNJ1):c.3865C>T (p.Arg1289Ter)
|
rs747261340
|
0.00004
|
NM_203446.3(SYNJ1):c.480-17A>C
|
rs1030947495
|
0.00004
|
NM_203446.3(SYNJ1):c.597G>A (p.Ala199=)
|
rs763090745
|
0.00004
|
NM_203446.3(SYNJ1):c.842C>T (p.Ala281Val)
|
rs1046699971
|
0.00004
|
NM_000157.4(GBA1):c.762-1G>C
|
rs1237637353
|
0.00003
|
NM_000345.4(SNCA):c.121+13C>T
|
rs763539470
|
0.00003
|
NM_000345.4(SNCA):c.225A>T (p.Thr75=)
|
rs149401968
|
0.00003
|
NM_000345.4(SNCA):c.287A>G (p.Lys96Arg)
|
rs548523899
|
0.00003
|
NM_001001557.4(GDF6):c.1271A>G (p.Lys424Arg)
|
rs121909353
|
0.00003
|
NM_001044.5(SLC6A3):c.1050C>T (p.Thr350=)
|
rs777700658
|
0.00003
|
NM_001044.5(SLC6A3):c.1067C>T (p.Thr356Met)
|
rs577802449
|
0.00003
|
NM_001044.5(SLC6A3):c.1269+16C>T
|
rs750007484
|
0.00003
|
NM_001044.5(SLC6A3):c.1843C>T (p.Arg615Cys)
|
rs763131939
|
0.00003
|
NM_001044.5(SLC6A3):c.201C>T (p.Ile67=)
|
rs191426052
|
0.00003
|
NM_001044.5(SLC6A3):c.384C>T (p.Ala128=)
|
rs771177632
|
0.00003
|
NM_001044.5(SLC6A3):c.939C>T (p.Asp313=)
|
rs774707412
|
0.00003
|
NM_001256864.2(DNAJC6):c.144G>T (p.Arg48=)
|
rs779540362
|
0.00003
|
NM_001256864.2(DNAJC6):c.1904-12A>G
|
rs774888599
|
0.00003
|
NM_001256864.2(DNAJC6):c.2331C>T (p.Gly777=)
|
rs370155769
|
0.00003
|
NM_001256864.2(DNAJC6):c.677C>T (p.Ala226Val)
|
rs776225529
|
0.00003
|
NM_001256864.2(DNAJC6):c.926G>A (p.Arg309His)
|
rs757458350
|
0.00003
|
NM_001257180.2(SLC20A2):c.*124G>T
|
rs948433091
|
0.00003
|
NM_001257180.2(SLC20A2):c.*289A>C
|
rs892436898
|
0.00003
|
NM_001257180.2(SLC20A2):c.1803G>A (p.Ser601=)
|
rs761069656
|
0.00003
|
NM_001257180.2(SLC20A2):c.678C>T (p.Phe226=)
|
rs116687117
|
0.00003
|
NM_001377265.1(MAPT):c.1042T>C (p.Ser348Pro)
|
rs753640366
|
0.00003
|
NM_002609.4(PDGFRB):c.1217A>G (p.Gln406Arg)
|
rs374802057
|
0.00003
|
NM_002609.4(PDGFRB):c.1539T>C (p.Ala513=)
|
rs150562879
|
0.00003
|
NM_002609.4(PDGFRB):c.164C>T (p.Ser55Leu)
|
rs147952898
|
0.00003
|
NM_002609.4(PDGFRB):c.1971C>T (p.His657=)
|
rs138486655
|
0.00003
|
NM_002609.4(PDGFRB):c.2997A>T (p.Arg999=)
|
rs776113877
|
0.00003
|
NM_002609.4(PDGFRB):c.3030T>G (p.Thr1010=)
|
rs182175304
|
0.00003
|
NM_002609.4(PDGFRB):c.729C>T (p.Val243=)
|
rs758566697
|
0.00003
|
NM_003560.4(PLA2G6):c.116G>A (p.Arg39Gln)
|
rs144910769
|
0.00003
|
NM_003560.4(PLA2G6):c.2239C>T (p.Arg747Trp)
|
rs121908687
|
0.00003
|
NM_003560.4(PLA2G6):c.2370_2371del (p.Tyr790_Glu791delinsTer)
|
rs587784353
|
0.00003
|
NM_003690.5(PRKRA):c.638G>T (p.Cys213Phe)
|
rs752452731
|
0.00003
|
NM_003690.5(PRKRA):c.654G>A (p.Leu218=)
|
rs763093482
|
0.00003
|
NM_003690.5(PRKRA):c.784+15T>C
|
rs367606024
|
0.00003
|
NM_003690.5(PRKRA):c.85G>A (p.Ala29Thr)
|
rs1293335092
|
0.00003
|
NM_003719.5(PDE8B):c.280A>G (p.Arg94Gly)
|
rs886060756
|
0.00003
|
NM_003719.5(PDE8B):c.796C>T (p.Arg266Trp)
|
rs375768747
|
0.00003
|
NM_004082.5(DCTN1):c.1226G>A (p.Arg409Gln)
|
rs142318791
|
0.00003
|
NM_004082.5(DCTN1):c.1482G>A (p.Ala494=)
|
rs372546194
|
0.00003
|
NM_004082.5(DCTN1):c.1595G>A (p.Arg532Gln)
|
rs759306485
|
0.00003
|
NM_004082.5(DCTN1):c.1868G>A (p.Arg623Gln)
|
rs763378572
|
0.00003
|
NM_004082.5(DCTN1):c.2005C>T (p.Arg669Cys)
|
rs150746209
|
0.00003
|
NM_004082.5(DCTN1):c.2136T>C (p.Asp712=)
|
rs147297927
|
0.00003
|
NM_004082.5(DCTN1):c.2253+20G>A
|
rs1446016270
|
0.00003
|
NM_004082.5(DCTN1):c.2397G>A (p.Lys799=)
|
rs145150561
|
0.00003
|
NM_004082.5(DCTN1):c.2633A>G (p.Tyr878Cys)
|
rs778201974
|
0.00003
|
NM_004082.5(DCTN1):c.2761-13G>A
|
rs531275207
|
0.00003
|
NM_004082.5(DCTN1):c.2823G>A (p.Leu941=)
|
rs550195526
|
0.00003
|
NM_004082.5(DCTN1):c.2954A>G (p.Lys985Arg)
|
rs751782015
|
0.00003
|
NM_004082.5(DCTN1):c.33+3A>G
|
rs1397714640
|
0.00003
|
NM_004082.5(DCTN1):c.332C>G (p.Ser111Cys)
|
rs374419252
|
0.00003
|
NM_004082.5(DCTN1):c.3382C>G (p.Pro1128Ala)
|
rs757510484
|
0.00003
|
NM_004082.5(DCTN1):c.3444G>A (p.Leu1148=)
|
rs139241420
|
0.00003
|
NM_004082.5(DCTN1):c.3529+11G>C
|
rs772782095
|
0.00003
|
NM_004082.5(DCTN1):c.3721G>A (p.Asp1241Asn)
|
rs184429549
|
0.00003
|
NM_004082.5(DCTN1):c.3733A>G (p.Met1245Val)
|
rs969899022
|
0.00003
|
NM_004082.5(DCTN1):c.3796C>A (p.Gln1266Lys)
|
rs538932463
|
0.00003
|
NM_004082.5(DCTN1):c.414+1G>A
|
rs576198476
|
0.00003
|
NM_004082.5(DCTN1):c.418C>A (p.Pro140Thr)
|
rs771966365
|
0.00003
|
NM_004082.5(DCTN1):c.439A>G (p.Thr147Ala)
|
rs371437767
|
0.00003
|
NM_004082.5(DCTN1):c.442C>T (p.Arg148Trp)
|
rs148810193
|
0.00003
|
NM_004082.5(DCTN1):c.613G>C (p.Gly205Arg)
|
rs770153273
|
0.00003
|
NM_004082.5(DCTN1):c.645+10G>A
|
rs776017204
|
0.00003
|
NM_004082.5(DCTN1):c.72C>T (p.Ala24=)
|
rs368633620
|
0.00003
|
NM_004082.5(DCTN1):c.73C>T (p.Arg25Trp)
|
rs756611519
|
0.00003
|
NM_004181.5(UCHL1):c.-17C>T
|
rs367935445
|
0.00003
|
NM_004562.3(PRKN):c.*1016C>T
|
rs886061234
|
0.00003
|
NM_004562.3(PRKN):c.*1158T>C
|
rs1459030812
|
0.00003
|
NM_004562.3(PRKN):c.*2443A>G
|
rs886061229
|
0.00003
|
NM_004562.3(PRKN):c.*314C>A
|
rs886061236
|
0.00003
|
NM_004562.3(PRKN):c.1001G>A (p.Arg334His)
|
rs746215864
|
0.00003
|
NM_004562.3(PRKN):c.614G>A (p.Ser205Asn)
|
rs200985148
|
0.00003
|
NM_006186.4(NR4A2):c.-166C>G
|
rs755057457
|
0.00003
|
NM_006186.4(NR4A2):c.-325C>G
|
rs886054981
|
0.00003
|
NM_006186.4(NR4A2):c.1659C>G (p.Ser553=)
|
rs886054977
|
0.00003
|
NM_006186.4(NR4A2):c.1746G>A (p.Val582=)
|
rs886054976
|
0.00003
|
NM_007262.5(PARK7):c.502A>G (p.Ile168Val)
|
rs374962638
|
0.00003
|
NM_007262.5(PARK7):c.56C>T (p.Thr19Met)
|
rs758016497
|
0.00003
|
NM_007262.5(PARK7):c.73G>A (p.Val25Ile)
|
rs781346135
|
0.00003
|
NM_007262.5(PARK7):c.91-4G>A
|
rs756040385
|
0.00003
|
NM_012179.4(FBXO7):c.*47A>T
|
rs367714958
|
0.00003
|
NM_012179.4(FBXO7):c.-93G>A
|
rs886057419
|
0.00003
|
NM_012179.4(FBXO7):c.1312C>T (p.Arg438Cys)
|
rs757568839
|
0.00003
|
NM_012179.4(FBXO7):c.1490G>C (p.Gly497Ala)
|
rs769453042
|
0.00003
|
NM_012179.4(FBXO7):c.465G>A (p.Ala155=)
|
rs765523844
|
0.00003
|
NM_013247.5(HTRA2):c.618C>G (p.Val206=)
|
rs186272815
|
0.00003
|
NM_018206.6(VPS35):c.1495C>T (p.Arg499Cys)
|
rs747325352
|
0.00003
|
NM_018206.6(VPS35):c.1576C>T (p.Arg526Cys)
|
rs398124658
|
0.00003
|
NM_018206.6(VPS35):c.4-15T>C
|
rs767613585
|
0.00003
|
NM_018206.6(VPS35):c.506+4A>C
|
rs760012192
|
0.00003
|
NM_018206.6(VPS35):c.851G>A (p.Arg284Gln)
|
rs771276024
|
0.00003
|
NM_018713.3(SLC30A10):c.-70C>T
|
rs886046005
|
0.00003
|
NM_018713.3(SLC30A10):c.907G>A (p.Ala303Thr)
|
rs34097842
|
0.00003
|
NM_020702.5(MYORG):c.1300G>C (p.Asp434His)
|
rs916933188
|
0.00003
|
NM_020702.5(MYORG):c.1967T>C (p.Ile656Thr)
|
rs370944350
|
0.00003
|
NM_021219.4(JAM2):c.323G>A (p.Arg108His)
|
rs1383641309
|
0.00003
|
NM_022089.4(ATP13A2):c.*24C>T
|
rs375521810
|
0.00003
|
NM_022089.4(ATP13A2):c.1103C>T (p.Thr368Ile)
|
rs1033088325
|
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.1545G>A (p.Thr515=)
|
rs373005131
|
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.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.3329A>G (p.Asn1110Ser)
|
rs758675397
|
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_025243.4(SLC19A3):c.*1355G>A
|
rs1247435862
|
0.00003
|
NM_025243.4(SLC19A3):c.1024G>A (p.Asp342Asn)
|
rs376305641
|
0.00003
|
NM_025243.4(SLC19A3):c.1054T>C (p.Phe352Leu)
|
rs757809128
|
0.00003
|
NM_025243.4(SLC19A3):c.1113G>A (p.Ala371=)
|
rs573958395
|
0.00003
|
NM_025243.4(SLC19A3):c.1166T>C (p.Ile389Thr)
|
rs149282475
|
0.00003
|
NM_025243.4(SLC19A3):c.1364T>G (p.Met455Arg)
|
rs1308805272
|
0.00003
|
NM_025243.4(SLC19A3):c.228T>C (p.Tyr76=)
|
rs745370201
|
0.00003
|
NM_025243.4(SLC19A3):c.366C>T (p.Ala122=)
|
rs548635197
|
0.00003
|
NM_025243.4(SLC19A3):c.624G>T (p.Lys208Asn)
|
rs201274864
|
0.00003
|
NM_025243.4(SLC19A3):c.854G>A (p.Trp285Ter)
|
rs373198092
|
0.00003
|
NM_025243.4(SLC19A3):c.982G>A (p.Ala328Thr)
|
rs764278369
|
0.00003
|
NM_032409.3(PINK1):c.1260G>A (p.Thr420=)
|
rs746182917
|
0.00003
|
NM_032409.3(PINK1):c.1580T>C (p.Met527Thr)
|
rs751012180
|
0.00003
|
NM_032409.3(PINK1):c.627G>A (p.Pro209=)
|
rs775620019
|
0.00003
|
NM_032409.3(PINK1):c.960-11C>T
|
rs371943401
|
0.00003
|
NM_032603.5(LOXL3):c.*108A>T
|
rs886056348
|
0.00003
|
NM_152296.5(ATP1A3):c.*298C>T
|
rs781980860
|
0.00003
|
NM_152296.5(ATP1A3):c.1520G>A (p.Arg507His)
|
rs782370873
|
0.00003
|
NM_152296.5(ATP1A3):c.1623C>T (p.Arg541=)
|
rs370771508
|
0.00003
|
NM_152296.5(ATP1A3):c.1653C>G (p.Pro551=)
|
rs782493144
|
0.00003
|
NM_152296.5(ATP1A3):c.1714A>G (p.Asn572Asp)
|
rs782415633
|
0.00003
|
NM_152296.5(ATP1A3):c.1728G>A (p.Val576=)
|
rs370436157
|
0.00003
|
NM_152296.5(ATP1A3):c.1773C>T (p.Asp591=)
|
rs782220233
|
0.00003
|
NM_152296.5(ATP1A3):c.1806+14T>C
|
rs377372631
|
0.00003
|
NM_152296.5(ATP1A3):c.2004C>T (p.Ile668=)
|
rs782209649
|
0.00003
|
NM_152296.5(ATP1A3):c.2418+18C>T
|
rs369674143
|
0.00003
|
NM_152296.5(ATP1A3):c.2419-6G>A
|
rs180749411
|
0.00003
|
NM_152296.5(ATP1A3):c.2652C>T (p.Thr884=)
|
rs1156548474
|
0.00003
|
NM_152296.5(ATP1A3):c.3013+12C>T
|
rs782424595
|
0.00003
|
NM_152296.5(ATP1A3):c.3014G>A (p.Gly1005Asp)
|
rs1428514255
|
0.00003
|
NM_152296.5(ATP1A3):c.303C>T (p.Cys101=)
|
rs781801187
|
0.00003
|
NM_152296.5(ATP1A3):c.327G>A (p.Ala109=)
|
rs781907306
|
0.00003
|
NM_152296.5(ATP1A3):c.708C>T (p.Ser236=)
|
rs145171914
|
0.00003
|
NM_152296.5(ATP1A3):c.724+8G>A
|
rs781886157
|
0.00003
|
NM_152296.5(ATP1A3):c.994-9G>A
|
rs201175414
|
0.00003
|
NM_198578.4(LRRK2):c.1154A>G (p.His385Arg)
|
rs201929195
|
0.00003
|
NM_198578.4(LRRK2):c.137C>T (p.Thr46Met)
|
rs781394575
|
0.00003
|
NM_198578.4(LRRK2):c.1446A>G (p.Ala482=)
|
rs757454147
|
0.00003
|
NM_198578.4(LRRK2):c.1464A>T (p.Leu488=)
|
rs75711334
|
0.00003
|
NM_198578.4(LRRK2):c.1517G>A (p.Arg506Gln)
|
rs202009639
|
0.00003
|
NM_198578.4(LRRK2):c.1825C>G (p.Leu609Val)
|
rs142717718
|
0.00003
|
NM_198578.4(LRRK2):c.1987T>C (p.Ser663Pro)
|
rs78154388
|
0.00003
|
NM_198578.4(LRRK2):c.2124A>T (p.Leu708Phe)
|
rs760381722
|
0.00003
|
NM_198578.4(LRRK2):c.2191T>C (p.Leu731=)
|
rs201126499
|
0.00003
|
NM_198578.4(LRRK2):c.2314C>T (p.Arg772Ter)
|
rs376015112
|
0.00003
|
NM_198578.4(LRRK2):c.2818T>G (p.Phe940Val)
|
rs953836925
|
0.00003
|
NM_198578.4(LRRK2):c.2900A>G (p.His967Arg)
|
rs533409083
|
0.00003
|
NM_198578.4(LRRK2):c.3033G>T (p.Glu1011Asp)
|
rs141252946
|
0.00003
|
NM_198578.4(LRRK2):c.3087G>T (p.Gln1029His)
|
rs1022834404
|
0.00003
|
NM_198578.4(LRRK2):c.3091T>C (p.Cys1031Arg)
|
rs201552816
|
0.00003
|
NM_198578.4(LRRK2):c.3199C>A (p.Arg1067=)
|
rs146948714
|
0.00003
|
NM_198578.4(LRRK2):c.3287C>G (p.Ser1096Cys)
|
rs76535406
|
0.00003
|
NM_198578.4(LRRK2):c.4077A>G (p.Lys1359=)
|
rs1333671057
|
0.00003
|
NM_198578.4(LRRK2):c.4290C>T (p.Ala1430=)
|
rs111435410
|
0.00003
|
NM_198578.4(LRRK2):c.4321C>T (p.Arg1441Cys)
|
rs33939927
|
0.00003
|
NM_198578.4(LRRK2):c.5080C>T (p.Leu1694=)
|
rs746878736
|
0.00003
|
NM_198578.4(LRRK2):c.5166G>A (p.Gly1722=)
|
rs200905003
|
0.00003
|
NM_198578.4(LRRK2):c.5183G>A (p.Arg1728His)
|
rs145364431
|
0.00003
|
NM_198578.4(LRRK2):c.526G>C (p.Val176Leu)
|
rs200861326
|
0.00003
|
NM_198578.4(LRRK2):c.539G>C (p.Gly180Ala)
|
rs199807643
|
0.00003
|
NM_198578.4(LRRK2):c.5870G>T (p.Arg1957Leu)
|
rs201012950
|
0.00003
|
NM_198578.4(LRRK2):c.5931C>T (p.His1977=)
|
rs201119482
|
0.00003
|
NM_198578.4(LRRK2):c.6382-8T>C
|
rs199695835
|
0.00003
|
NM_198578.4(LRRK2):c.6384C>G (p.Val2128=)
|
rs145225800
|
0.00003
|
NM_198578.4(LRRK2):c.6752A>C (p.Asn2251Thr)
|
rs200419481
|
0.00003
|
NM_198578.4(LRRK2):c.7062C>T (p.Ile2354=)
|
rs768811495
|
0.00003
|
NM_198578.4(LRRK2):c.7168G>A (p.Val2390Met)
|
rs79546190
|
0.00003
|
NM_198578.4(LRRK2):c.7224G>A (p.Met2408Ile)
|
rs60545352
|
0.00003
|
NM_198578.4(LRRK2):c.7300A>G (p.Ile2434Val)
|
rs398124661
|
0.00003
|
NM_198578.4(LRRK2):c.7315C>A (p.Leu2439Ile)
|
rs72547983
|
0.00003
|
NM_198578.4(LRRK2):c.7382C>T (p.Ala2461Val)
|
rs201037550
|
0.00003
|
NM_198578.4(LRRK2):c.7570A>G (p.Thr2524Ala)
|
rs748739318
|
0.00003
|
NM_203446.3(SYNJ1):c.*598C>A
|
rs770865984
|
0.00003
|
NM_203446.3(SYNJ1):c.*666A>G
|
rs763776246
|
0.00003
|
NM_203446.3(SYNJ1):c.*704C>G
|
rs367591704
|
0.00003
|
NM_203446.3(SYNJ1):c.*707C>T
|
rs1210163373
|
0.00003
|
NM_203446.3(SYNJ1):c.*729G>A
|
rs771278245
|
0.00003
|
NM_203446.3(SYNJ1):c.*733G>A
|
rs758953009
|
0.00003
|
NM_203446.3(SYNJ1):c.*738C>T
|
rs747245690
|
0.00003
|
NM_203446.3(SYNJ1):c.-22-10G>A
|
rs375719186
|
0.00003
|
NM_203446.3(SYNJ1):c.-23+11C>T
|
rs1000113626
|
0.00003
|
NM_203446.3(SYNJ1):c.-83A>G
|
rs775805673
|
0.00003
|
NM_203446.3(SYNJ1):c.1002C>T (p.Asp334=)
|
rs763601982
|
0.00003
|
NM_203446.3(SYNJ1):c.125-13del
|
rs763797914
|
0.00003
|
NM_203446.3(SYNJ1):c.1402T>G (p.Phe468Val)
|
rs376762817
|
0.00003
|
NM_203446.3(SYNJ1):c.1511-4A>G
|
rs533995497
|
0.00003
|
NM_203446.3(SYNJ1):c.1534+16T>A
|
rs1244807022
|
0.00003
|
NM_203446.3(SYNJ1):c.1611C>T (p.Val537=)
|
rs150180190
|
0.00003
|
NM_203446.3(SYNJ1):c.165A>G (p.Lys55=)
|
rs141138675
|
0.00003
|
NM_203446.3(SYNJ1):c.1868A>G (p.Asn623Ser)
|
rs1298315820
|
0.00003
|
NM_203446.3(SYNJ1):c.20T>A (p.Phe7Tyr)
|
rs748690832
|
0.00003
|
NM_203446.3(SYNJ1):c.2146-8G>A
|
rs759701632
|
0.00003
|
NM_203446.3(SYNJ1):c.2171A>G (p.Tyr724Cys)
|
rs201485861
|
0.00003
|
NM_203446.3(SYNJ1):c.2226T>A (p.Val742=)
|
rs566533509
|
0.00003
|
NM_203446.3(SYNJ1):c.243C>T (p.Val81=)
|
rs769645055
|
0.00003
|
NM_203446.3(SYNJ1):c.2519C>T (p.Thr840Met)
|
rs560413403
|
0.00003
|
NM_203446.3(SYNJ1):c.2520G>A (p.Thr840=)
|
rs746832641
|
0.00003
|
NM_203446.3(SYNJ1):c.2524A>G (p.Thr842Ala)
|
rs779943757
|
0.00003
|
NM_203446.3(SYNJ1):c.2587G>A (p.Val863Ile)
|
rs377350366
|
0.00003
|
NM_203446.3(SYNJ1):c.2685A>G (p.Thr895=)
|
rs939655575
|
0.00003
|
NM_203446.3(SYNJ1):c.2792T>C (p.Ile931Thr)
|
rs932390799
|
0.00003
|
NM_203446.3(SYNJ1):c.3037+18A>G
|
rs780721031
|
0.00003
|
NM_203446.3(SYNJ1):c.3209G>A (p.Arg1070Gln)
|
rs141107054
|
0.00003
|
NM_203446.3(SYNJ1):c.324C>T (p.Ile108=)
|
rs551070196
|
0.00003
|
NM_203446.3(SYNJ1):c.3301C>G (p.Gln1101Glu)
|
rs763783154
|
0.00003
|
NM_203446.3(SYNJ1):c.3320G>A (p.Arg1107Gln)
|
rs917502531
|
0.00003
|
NM_203446.3(SYNJ1):c.3392-8A>T
|
rs533064963
|
0.00003
|
NM_203446.3(SYNJ1):c.3431-8C>A
|
rs369584002
|
0.00003
|
NM_203446.3(SYNJ1):c.3581C>G (p.Ala1194Gly)
|
rs779766895
|
0.00003
|
NM_203446.3(SYNJ1):c.3595C>T (p.Pro1199Ser)
|
rs760863245
|
0.00003
|
NM_203446.3(SYNJ1):c.3634G>A (p.Ala1212Thr)
|
rs769125182
|
0.00003
|
NM_203446.3(SYNJ1):c.3691T>C (p.Ser1231Pro)
|
rs767695759
|
0.00003
|
NM_203446.3(SYNJ1):c.407G>A (p.Gly136Asp)
|
rs771507886
|
0.00003
|
NM_203446.3(SYNJ1):c.470G>C (p.Arg157Thr)
|
rs375831365
|
0.00003
|
NM_203446.3(SYNJ1):c.542G>A (p.Arg181His)
|
rs763977309
|
0.00003
|
NM_203446.3(SYNJ1):c.630A>T (p.Glu210Asp)
|
rs1377390036
|
0.00003
|
NM_203446.3(SYNJ1):c.705+17A>G
|
rs751404810
|
0.00003
|
NM_203446.3(SYNJ1):c.706-19A>G
|
rs544943206
|
0.00003
|
NM_203446.3(SYNJ1):c.790-20A>G
|
rs754054175
|
0.00003
|
NM_000157.4(GBA1):c.1346C>T (p.Thr449Met)
|
rs757930613
|
0.00002
|
NM_000157.4(GBA1):c.247C>T (p.Arg83Cys)
|
rs1141812
|
0.00002
|
NM_000157.4(GBA1):c.721G>A (p.Gly241Arg)
|
rs409652
|
0.00002
|
NM_000157.4(GBA1):c.946C>T (p.Arg316Cys)
|
rs1264734195
|
0.00002
|
NM_000345.4(SNCA):c.*464C>A
|
rs183204610
|
0.00002
|
NM_000345.4(SNCA):c.390+11A>C
|
rs546366532
|
0.00002
|
NM_001044.5(SLC6A3):c.1087G>A (p.Val363Ile)
|
rs750843353
|
0.00002
|
NM_001044.5(SLC6A3):c.1138G>A (p.Gly380Arg)
|
rs368954324
|
0.00002
|
NM_001044.5(SLC6A3):c.1270-10C>T
|
rs756737267
|
0.00002
|
NM_001044.5(SLC6A3):c.1386C>T (p.Phe462=)
|
rs765211329
|
0.00002
|
NM_001044.5(SLC6A3):c.1499-12C>G
|
rs1048125664
|
0.00002
|
NM_001044.5(SLC6A3):c.151C>T (p.Arg51Trp)
|
rs778617693
|
0.00002
|
NM_001044.5(SLC6A3):c.1644C>T (p.Tyr548=)
|
rs1264236301
|
0.00002
|
NM_001044.5(SLC6A3):c.1663G>A (p.Asp555Asn)
|
rs750854317
|
0.00002
|
NM_001044.5(SLC6A3):c.1736A>G (p.Lys579Arg)
|
rs373070875
|
0.00002
|
NM_001044.5(SLC6A3):c.1838C>T (p.Thr613Met)
|
rs372722904
|
0.00002
|
NM_001044.5(SLC6A3):c.287-16C>A
|
rs752277056
|
0.00002
|
NM_001044.5(SLC6A3):c.42G>T (p.Val14=)
|
rs767919132
|
0.00002
|
NM_001044.5(SLC6A3):c.471C>T (p.Asn157=)
|
rs755940757
|
0.00002
|
NM_001044.5(SLC6A3):c.615C>T (p.Asn205=)
|
rs764540812
|
0.00002
|
NM_001044.5(SLC6A3):c.642C>T (p.Ala214=)
|
rs369766460
|
0.00002
|
NM_001044.5(SLC6A3):c.661G>A (p.Val221Met)
|
rs138948519
|
0.00002
|
NM_001199107.2(TBC1D24):c.1078C>T (p.Arg360Cys)
|
rs1057519629
|
0.00002
|
NM_001256864.2(DNAJC6):c.1533G>A (p.Glu511=)
|
rs773744229
|
0.00002
|
NM_001256864.2(DNAJC6):c.1709C>T (p.Pro570Leu)
|
rs751850074
|
0.00002
|
NM_001256864.2(DNAJC6):c.175A>G (p.Ser59Gly)
|
rs1296532855
|
0.00002
|
NM_001256864.2(DNAJC6):c.1990A>G (p.Ser664Gly)
|
rs986073706
|
0.00002
|
NM_001256864.2(DNAJC6):c.2044A>G (p.Ser682Gly)
|
rs145175543
|
0.00002
|
NM_001256864.2(DNAJC6):c.2072A>G (p.Asp691Gly)
|
rs747034717
|
0.00002
|
NM_001256864.2(DNAJC6):c.2151C>T (p.Thr717=)
|
rs145501615
|
0.00002
|
NM_001256864.2(DNAJC6):c.344+4C>T
|
rs561389842
|
0.00002
|
NM_001256864.2(DNAJC6):c.518A>G (p.Tyr173Cys)
|
rs1428381539
|
0.00002
|
NM_001257180.2(SLC20A2):c.119G>A (p.Gly40Asp)
|
rs1268071663
|
0.00002
|
NM_001257180.2(SLC20A2):c.1282C>T (p.Leu428=)
|
rs199804961
|
0.00002
|
NM_001257180.2(SLC20A2):c.1701G>A (p.Thr567=)
|
rs771290596
|
0.00002
|
NM_001288705.3(CSF1R):c.647G>A (p.Arg216Gln)
|
rs750413238
|
0.00002
|
NM_001377265.1(MAPT):c.2392C>T (p.Arg798Trp)
|
rs63750424
|
0.00002
|
NM_002609.4(PDGFRB):c.1450G>A (p.Glu484Lys)
|
rs765124485
|
0.00002
|
NM_002609.4(PDGFRB):c.168T>A (p.Gly56=)
|
rs532483221
|
0.00002
|
NM_002609.4(PDGFRB):c.1810C>T (p.Arg604Cys)
|
rs541926152
|
0.00002
|
NM_002609.4(PDGFRB):c.3297G>A (p.Ala1099=)
|
rs376978985
|
0.00002
|
NM_002609.4(PDGFRB):c.541G>A (p.Gly181Ser)
|
rs574853772
|
0.00002
|
NM_002609.4(PDGFRB):c.657C>T (p.Asn219=)
|
rs745467275
|
0.00002
|
NM_003690.5(PRKRA):c.335C>G (p.Pro112Arg)
|
rs151157679
|
0.00002
|
NM_003690.5(PRKRA):c.704G>C (p.Ser235Thr)
|
rs756005650
|
0.00002
|
NM_003719.5(PDE8B):c.*179G>A
|
rs886060761
|
0.00002
|
NM_003719.5(PDE8B):c.1560G>A (p.Glu520=)
|
rs199820842
|
0.00002
|
NM_003719.5(PDE8B):c.1831T>G (p.Ser611Ala)
|
rs201596222
|
0.00002
|
NM_003719.5(PDE8B):c.1881C>T (p.Thr627=)
|
rs143919281
|
0.00002
|
NM_003719.5(PDE8B):c.1921G>A (p.Asp641Asn)
|
rs539447103
|
0.00002
|
NM_003719.5(PDE8B):c.2139T>C (p.Tyr713=)
|
rs374692260
|
0.00002
|
NM_003719.5(PDE8B):c.593C>T (p.Ser198Leu)
|
rs377536938
|
0.00002
|
NM_003719.5(PDE8B):c.876+15C>T
|
rs756229238
|
0.00002
|
NM_004082.5(DCTN1):c.1082A>G (p.Lys361Arg)
|
rs1299296008
|
0.00002
|
NM_004082.5(DCTN1):c.1225C>T (p.Arg409Trp)
|
rs150368544
|
0.00002
|
NM_004082.5(DCTN1):c.1255G>A (p.Ala419Thr)
|
rs922032527
|
0.00002
|
NM_004082.5(DCTN1):c.1288-10C>T
|
rs72659375
|
0.00002
|
NM_004082.5(DCTN1):c.1398G>A (p.Ala466=)
|
rs371253917
|
0.00002
|
NM_004082.5(DCTN1):c.1486G>C (p.Val496Leu)
|
rs773897036
|
0.00002
|
NM_004082.5(DCTN1):c.1561C>T (p.Arg521Cys)
|
rs756634587
|
0.00002
|
NM_004082.5(DCTN1):c.167A>G (p.Lys56Arg)
|
rs566433112
|
0.00002
|
NM_004082.5(DCTN1):c.1702-7C>T
|
rs554887316
|
0.00002
|
NM_004082.5(DCTN1):c.1802G>C (p.Gly601Ala)
|
rs370192633
|
0.00002
|
NM_004082.5(DCTN1):c.1926G>A (p.Leu642=)
|
rs758298791
|
0.00002
|
NM_004082.5(DCTN1):c.1947A>G (p.Gln649=)
|
rs756173900
|
0.00002
|
NM_004082.5(DCTN1):c.2006G>A (p.Arg669His)
|
rs140523637
|
0.00002
|
NM_004082.5(DCTN1):c.21C>T (p.His7=)
|
rs373040626
|
0.00002
|
NM_004082.5(DCTN1):c.2244C>G (p.Asp748Glu)
|
rs751069902
|
0.00002
|
NM_004082.5(DCTN1):c.2290G>A (p.Val764Ile)
|
rs753618444
|
0.00002
|
NM_004082.5(DCTN1):c.2303G>A (p.Arg768His)
|
rs368869853
|
0.00002
|
NM_004082.5(DCTN1):c.2373C>T (p.Cys791=)
|
rs759688608
|
0.00002
|
NM_004082.5(DCTN1):c.2383C>T (p.Arg795Cys)
|
rs771231109
|
0.00002
|
NM_004082.5(DCTN1):c.246T>C (p.Asp82=)
|
rs1323483918
|
0.00002
|
NM_004082.5(DCTN1):c.2477C>T (p.Thr826Met)
|
rs766585070
|
0.00002
|
NM_004082.5(DCTN1):c.2544T>C (p.Ala848=)
|
rs1371265373
|
0.00002
|
NM_004082.5(DCTN1):c.2736T>C (p.Tyr912=)
|
rs72659381
|
0.00002
|
NM_004082.5(DCTN1):c.2753C>A (p.Pro918His)
|
rs771075973
|
0.00002
|
NM_004082.5(DCTN1):c.280-19A>G
|
rs747687955
|
0.00002
|
NM_004082.5(DCTN1):c.2814T>C (p.Ala938=)
|
rs1475285679
|
0.00002
|
NM_004082.5(DCTN1):c.2872T>G (p.Ser958Ala)
|
rs753405772
|
0.00002
|
NM_004082.5(DCTN1):c.2925C>T (p.Leu975=)
|
rs1185611985
|
0.00002
|
NM_004082.5(DCTN1):c.3030-11C>G
|
rs770969863
|
0.00002
|
NM_004082.5(DCTN1):c.3107G>A (p.Arg1036His)
|
rs762382952
|
0.00002
|
NM_004082.5(DCTN1):c.3145C>T (p.Arg1049Trp)
|
rs573012389
|
0.00002
|
NM_004082.5(DCTN1):c.3217A>G (p.Ile1073Val)
|
rs757034536
|
0.00002
|
NM_004082.5(DCTN1):c.33+9C>T
|
rs775298728
|
0.00002
|
NM_004082.5(DCTN1):c.3302G>A (p.Arg1101Lys)
|
rs121909345
|
0.00002
|
NM_004082.5(DCTN1):c.3497C>T (p.Thr1166Met)
|
rs376549770
|
0.00002
|
NM_004082.5(DCTN1):c.3519C>T (p.Arg1173=)
|
rs146094433
|
0.00002
|
NM_004082.5(DCTN1):c.3545C>T (p.Ser1182Leu)
|
rs975026607
|
0.00002
|
NM_004082.5(DCTN1):c.359-4A>G
|
rs754070367
|
0.00002
|
NM_004082.5(DCTN1):c.3699+16G>A
|
rs747490958
|
0.00002
|
NM_004082.5(DCTN1):c.36G>A (p.Thr12=)
|
rs1394864492
|
0.00002
|
NM_004082.5(DCTN1):c.3726A>G (p.Thr1242=)
|
rs377745224
|
0.00002
|
NM_004082.5(DCTN1):c.3810C>A (p.His1270Gln)
|
rs755013572
|
0.00002
|
NM_004082.5(DCTN1):c.3824G>A (p.Arg1275His)
|
rs560344779
|
0.00002
|
NM_004082.5(DCTN1):c.395G>A (p.Arg132Gln)
|
rs753892865
|
0.00002
|
NM_004082.5(DCTN1):c.632C>T (p.Pro211Leu)
|
rs763427780
|
0.00002
|
NM_004181.4(UCHL1):c.-59C>G
|
rs577696101
|
0.00002
|
NM_004181.5(UCHL1):c.412-4G>A
|
rs765745344
|
0.00002
|
NM_004562.3(PRKN):c.*2192G>A
|
rs1273156810
|
0.00002
|
NM_004562.3(PRKN):c.*98G>A
|
rs771094906
|
0.00002
|
NM_004562.3(PRKN):c.255C>T (p.Gly85=)
|
rs769477007
|
0.00002
|
NM_004562.3(PRKN):c.633A>T (p.Lys211Asn)
|
rs137853060
|
0.00002
|
NM_004562.3(PRKN):c.758G>A (p.Cys253Tyr)
|
rs747427602
|
0.00002
|
NM_006186.3(NR4A2):c.-384T>C
|
rs886054982
|
0.00002
|
NM_006186.4(NR4A2):c.*1198C>T
|
rs577905348
|
0.00002
|
NM_007262.5(PARK7):c.448G>A (p.Gly150Ser)
|
rs368420490
|
0.00002
|
NM_012179.4(FBXO7):c.1054G>A (p.Val352Ile)
|
rs762037477
|
0.00002
|
NM_012179.4(FBXO7):c.1264A>T (p.Ile422Phe)
|
rs1555884880
|
0.00002
|
NM_012179.4(FBXO7):c.1530C>T (p.Ser510=)
|
rs1057521329
|
0.00002
|
NM_012179.4(FBXO7):c.364G>A (p.Asp122Asn)
|
rs772662803
|
0.00002
|
NM_012179.4(FBXO7):c.646-10C>T
|
rs367584088
|
0.00002
|
NM_012179.4(FBXO7):c.661G>C (p.Ala221Pro)
|
rs901331947
|
0.00002
|
NM_012179.4(FBXO7):c.961C>T (p.Arg321Ter)
|
rs369105683
|
0.00002
|
NM_012179.4(FBXO7):c.999C>T (p.Val333=)
|
rs1191841298
|
0.00002
|
NM_013247.5(HTRA2):c.873T>C (p.Asn291=)
|
rs775948550
|
0.00002
|
NM_016139.4(CHCHD2):c.300+5G>A
|
rs750014782
|
0.00002
|
NM_018206.6(VPS35):c.1317T>C (p.Tyr439=)
|
rs187425753
|
0.00002
|
NM_018206.6(VPS35):c.1809A>T (p.Ala603=)
|
rs142063738
|
0.00002
|
NM_018206.6(VPS35):c.1893C>T (p.Ile631=)
|
rs1183192271
|
0.00002
|
NM_018206.6(VPS35):c.2210C>T (p.Ala737Val)
|
rs749516404
|
0.00002
|
NM_018206.6(VPS35):c.2339G>A (p.Arg780Gln)
|
rs910938026
|
0.00002
|
NM_018206.6(VPS35):c.648G>A (p.Leu216=)
|
rs763697798
|
0.00002
|
NM_018713.3(SLC30A10):c.*466A>T
|
rs972827342
|
0.00002
|
NM_018713.3(SLC30A10):c.1272C>T (p.His424=)
|
rs544895572
|
0.00002
|
NM_018713.3(SLC30A10):c.624G>A (p.Val208=)
|
rs760889956
|
0.00002
|
NM_020702.5(MYORG):c.103A>G (p.Met35Val)
|
rs765483979
|
0.00002
|
NM_020821.3(VPS13C):c.1111C>T (p.Arg371Ter)
|
rs752457309
|
0.00002
|
NM_021219.4(JAM2):c.685C>T (p.Arg229Ter)
|
rs781261918
|
0.00002
|
NM_022089.4(ATP13A2):c.1099G>A (p.Glu367Lys)
|
rs770576740
|
0.00002
|
NM_022089.4(ATP13A2):c.1112G>A (p.Arg371Gln)
|
rs779347442
|
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_025243.4(SLC19A3):c.-2-11C>A
|
rs759915200
|
0.00002
|
NM_025243.4(SLC19A3):c.1205G>A (p.Arg402His)
|
rs779378165
|
0.00002
|
NM_025243.4(SLC19A3):c.1225A>C (p.Ile409Leu)
|
rs749551153
|
0.00002
|
NM_025243.4(SLC19A3):c.1306A>C (p.Ser436Arg)
|
rs772754355
|
0.00002
|
NM_025243.4(SLC19A3):c.259G>T (p.Gly87Cys)
|
rs200102807
|
0.00002
|
NM_025243.4(SLC19A3):c.275T>C (p.Ile92Thr)
|
rs537995579
|
0.00002
|
NM_025243.4(SLC19A3):c.448G>A (p.Ala150Thr)
|
rs117013375
|
0.00002
|
NM_025243.4(SLC19A3):c.488C>T (p.Ser163Phe)
|
rs898880170
|
0.00002
|
NM_025243.4(SLC19A3):c.539T>C (p.Val180Ala)
|
rs761311668
|
0.00002
|
NM_025243.4(SLC19A3):c.607C>T (p.Pro203Ser)
|
rs767146802
|
0.00002
|
NM_025243.4(SLC19A3):c.679G>A (p.Gly227Ser)
|
rs987409474
|
0.00002
|
NM_025243.4(SLC19A3):c.68G>T (p.Gly23Val)
|
rs121917882
|
0.00002
|
NM_025243.4(SLC19A3):c.81_82dup (p.Met28fs)
|
rs775835429
|
0.00002
|
NM_032409.3(PINK1):c.1009C>T (p.Arg337Cys)
|
rs748041977
|
0.00002
|
NM_032409.3(PINK1):c.1010G>A (p.Arg337His)
|
rs184043309
|
0.00002
|
NM_032409.3(PINK1):c.1077G>A (p.Ala359=)
|
rs144550985
|
0.00002
|
NM_032409.3(PINK1):c.1167G>A (p.Leu389=)
|
rs534505756
|
0.00002
|
NM_032409.3(PINK1):c.1391G>A (p.Arg464His)
|
rs764328076
|
0.00002
|
NM_032409.3(PINK1):c.1512A>C (p.Ala504=)
|
rs527565484
|
0.00002
|
NM_032409.3(PINK1):c.1549C>T (p.Leu517=)
|
rs149466252
|
0.00002
|
NM_032409.3(PINK1):c.311T>G (p.Phe104Cys)
|
rs762698585
|
0.00002
|
NM_032409.3(PINK1):c.414G>A (p.Pro138=)
|
rs773637957
|
0.00002
|
NM_032409.3(PINK1):c.434C>T (p.Thr145Met)
|
rs45604240
|
0.00002
|
NM_032409.3(PINK1):c.439C>T (p.Arg147Cys)
|
rs889189102
|
0.00002
|
NM_032409.3(PINK1):c.502G>C (p.Ala168Pro)
|
rs768091663
|
0.00002
|
NM_032409.3(PINK1):c.564C>T (p.Thr188=)
|
rs754328101
|
0.00002
|
NM_032409.3(PINK1):c.665G>A (p.Trp222Ter)
|
rs777160388
|
0.00002
|
NM_032409.3(PINK1):c.838G>A (p.Ala280Thr)
|
rs772510148
|
0.00002
|
NM_032409.3(PINK1):c.857C>T (p.Pro286Leu)
|
rs146691996
|
0.00002
|
NM_032409.3(PINK1):c.935G>A (p.Arg312Gln)
|
rs202128685
|
0.00002
|
NM_032409.3(PINK1):c.959+4A>T
|
rs758604046
|
0.00002
|
NM_032409.3(PINK1):c.962A>G (p.Tyr321Cys)
|
rs755060576
|
0.00002
|
NM_152296.5(ATP1A3):c.1176C>T (p.Thr392=)
|
rs1353417724
|
0.00002
|
NM_152296.5(ATP1A3):c.1192+15C>T
|
rs782209602
|
0.00002
|
NM_152296.5(ATP1A3):c.1192+3G>A
|
rs374542368
|
0.00002
|
NM_152296.5(ATP1A3):c.1215G>A (p.Ser405=)
|
rs374534881
|
0.00002
|
NM_152296.5(ATP1A3):c.1242C>T (p.Ile414=)
|
rs1309536843
|
0.00002
|
NM_152296.5(ATP1A3):c.1296G>T (p.Val432=)
|
rs781928217
|
0.00002
|
NM_152296.5(ATP1A3):c.156T>C (p.Gly52=)
|
rs1213410717
|
0.00002
|
NM_152296.5(ATP1A3):c.1605C>T (p.Leu535=)
|
rs148097195
|
0.00002
|
NM_152296.5(ATP1A3):c.1807-19T>C
|
rs782302598
|
0.00002
|
NM_152296.5(ATP1A3):c.1910G>A (p.Arg637Gln)
|
rs1555861967
|
0.00002
|
NM_152296.5(ATP1A3):c.1995C>T (p.Ser665=)
|
rs374107131
|
0.00002
|
NM_152296.5(ATP1A3):c.207A>T (p.Ala69=)
|
rs200616931
|
0.00002
|
NM_152296.5(ATP1A3):c.2154C>T (p.Ala718=)
|
rs782463652
|
0.00002
|
NM_152296.5(ATP1A3):c.2178C>T (p.Ile726=)
|
rs782806766
|
0.00002
|
NM_152296.5(ATP1A3):c.2277C>T (p.Phe759=)
|
rs782305663
|
0.00002
|
NM_152296.5(ATP1A3):c.2418+3G>A
|
rs782778060
|
0.00002
|
NM_152296.5(ATP1A3):c.2457C>T (p.Ser819=)
|
rs374697524
|
0.00002
|
NM_152296.5(ATP1A3):c.2492C>T (p.Thr831Met)
|
rs782674903
|
0.00002
|
NM_152296.5(ATP1A3):c.2500T>C (p.Leu834=)
|
rs782648382
|
0.00002
|
NM_152296.5(ATP1A3):c.251G>A (p.Arg84Gln)
|
rs782194114
|
0.00002
|
NM_152296.5(ATP1A3):c.2592A>T (p.Ala864=)
|
rs879984755
|
0.00002
|
NM_152296.5(ATP1A3):c.2676C>T (p.Tyr892=)
|
rs782625641
|
0.00002
|
NM_152296.5(ATP1A3):c.2689-11C>T
|
rs782509039
|
0.00002
|
NM_152296.5(ATP1A3):c.2819+12G>A
|
rs782653272
|
0.00002
|
NM_152296.5(ATP1A3):c.2819+3G>A
|
rs782555113
|
0.00002
|
NM_152296.5(ATP1A3):c.2896G>A (p.Val966Met)
|
rs782665893
|
0.00002
|
NM_152296.5(ATP1A3):c.2907C>T (p.Arg969=)
|
rs782611500
|
0.00002
|
NM_152296.5(ATP1A3):c.2973C>T (p.Tyr991=)
|
rs372919447
|
0.00002
|
NM_152296.5(ATP1A3):c.3011G>T (p.Gly1004Val)
|
rs782204932
|
0.00002
|
NM_152296.5(ATP1A3):c.54G>A (p.Glu18=)
|
rs541121307
|
0.00002
|
NM_152296.5(ATP1A3):c.657C>T (p.Pro219=)
|
rs181074193
|
0.00002
|
NM_152296.5(ATP1A3):c.669C>T (p.His223=)
|
rs201584925
|
0.00002
|
NM_152296.5(ATP1A3):c.675C>T (p.Asn225=)
|
rs1226907239
|
0.00002
|
NM_152296.5(ATP1A3):c.7-18C>T
|
rs782562097
|
0.00002
|
NM_152296.5(ATP1A3):c.729G>A (p.Thr243=)
|
rs374578592
|
0.00002
|
NM_152296.5(ATP1A3):c.741G>C (p.Val247=)
|
rs767234141
|
0.00002
|
NM_152296.5(ATP1A3):c.759C>T (p.Asp253=)
|
rs369131791
|
0.00002
|
NM_152296.5(ATP1A3):c.852C>T (p.Leu284=)
|
rs781983476
|
0.00002
|
NM_152296.5(ATP1A3):c.897C>T (p.Leu299=)
|
rs1485886227
|
0.00002
|
NM_152296.5(ATP1A3):c.904A>G (p.Ile302Val)
|
rs782326264
|
0.00002
|
NM_198578.4(LRRK2):c.1092G>A (p.Lys364=)
|
rs200462425
|
0.00002
|
NM_198578.4(LRRK2):c.1132C>T (p.Leu378Phe)
|
rs200870486
|
0.00002
|
NM_198578.4(LRRK2):c.1201G>A (p.Val401Met)
|
rs1479574336
|
0.00002
|
NM_198578.4(LRRK2):c.1224T>G (p.His408Gln)
|
rs1161551642
|
0.00002
|
NM_198578.4(LRRK2):c.1891C>T (p.Leu631=)
|
rs757654557
|
0.00002
|
NM_198578.4(LRRK2):c.1910G>A (p.Arg637Gln)
|
rs775900740
|
0.00002
|
NM_198578.4(LRRK2):c.2017T>C (p.Leu673=)
|
rs1218456602
|
0.00002
|
NM_198578.4(LRRK2):c.2070+9T>A
|
rs201389324
|
0.00002
|
NM_198578.4(LRRK2):c.237+20T>A
|
rs201200707
|
0.00002
|
NM_198578.4(LRRK2):c.2915A>G (p.Asp972Gly)
|
rs201718451
|
0.00002
|
NM_198578.4(LRRK2):c.3026A>C (p.His1009Pro)
|
rs375146075
|
0.00002
|
NM_198578.4(LRRK2):c.3200G>A (p.Arg1067Gln)
|
rs111341148
|
0.00002
|
NM_198578.4(LRRK2):c.436+15T>C
|
rs200953980
|
0.00002
|
NM_198578.4(LRRK2):c.4473C>T (p.Thr1491=)
|
rs144754773
|
0.00002
|
NM_198578.4(LRRK2):c.4608G>A (p.Ser1536=)
|
rs202073944
|
0.00002
|
NM_198578.4(LRRK2):c.4894G>C (p.Glu1632Gln)
|
rs200580973
|
0.00002
|
NM_198578.4(LRRK2):c.4934A>G (p.Tyr1645Cys)
|
rs759886320
|
0.00002
|
NM_198578.4(LRRK2):c.5385G>A (p.Leu1795=)
|
rs111910483
|
0.00002
|
NM_198578.4(LRRK2):c.5554A>G (p.Ile1852Val)
|
rs147442556
|
0.00002
|
NM_198578.4(LRRK2):c.6582T>C (p.Val2194=)
|
rs773085638
|
0.00002
|
NM_198578.4(LRRK2):c.7186_7187dup (p.Val2396_Met2397insTer)
|
rs281865056
|
0.00002
|
NM_198578.4(LRRK2):c.7226C>G (p.Ser2409Cys)
|
rs1222262387
|
0.00002
|
NM_198578.4(LRRK2):c.839-4T>G
|
rs748213808
|
0.00002
|
NM_198578.4(LRRK2):c.868G>A (p.Glu290Lys)
|
rs201159244
|
0.00002
|
NM_203446.3(SYNJ1):c.*110C>T
|
rs959757570
|
0.00002
|
NM_203446.3(SYNJ1):c.*119C>T
|
rs547772465
|
0.00002
|
NM_203446.3(SYNJ1):c.*148A>C
|
rs777068962
|
0.00002
|
NM_203446.3(SYNJ1):c.*152T>C
|
rs982743558
|
0.00002
|
NM_203446.3(SYNJ1):c.*233G>A
|
rs765410501
|
0.00002
|
NM_203446.3(SYNJ1):c.*278T>G
|
rs61750218
|
0.00002
|
NM_203446.3(SYNJ1):c.*491A>C
|
rs776115769
|
0.00002
|
NM_203446.3(SYNJ1):c.*602G>A
|
rs375352780
|
0.00002
|
NM_203446.3(SYNJ1):c.*613A>G
|
rs769954720
|
0.00002
|
NM_203446.3(SYNJ1):c.*720T>C
|
rs1016040846
|
0.00002
|
NM_203446.3(SYNJ1):c.*737C>G
|
rs746226206
|
0.00002
|
NM_203446.3(SYNJ1):c.*762G>A
|
rs763042220
|
0.00002
|
NM_203446.3(SYNJ1):c.*9A>G
|
rs758118019
|
0.00002
|
NM_203446.3(SYNJ1):c.-49A>G
|
rs780877494
|
0.00002
|
NM_203446.3(SYNJ1):c.-59G>A
|
rs771338654
|
0.00002
|
NM_203446.3(SYNJ1):c.-64C>T
|
rs869206401
|
0.00002
|
NM_203446.3(SYNJ1):c.-68G>A
|
rs746182035
|
0.00002
|
NM_203446.3(SYNJ1):c.-73C>G
|
rs772641102
|
0.00002
|
NM_203446.3(SYNJ1):c.1100A>G (p.Asn367Ser)
|
rs562660511
|
0.00002
|
NM_203446.3(SYNJ1):c.1176T>C (p.Ser392=)
|
rs779977140
|
0.00002
|
NM_203446.3(SYNJ1):c.1195T>G (p.Leu399Val)
|
rs1302356872
|
0.00002
|
NM_203446.3(SYNJ1):c.1228G>C (p.Gly410Arg)
|
rs745972290
|
0.00002
|
NM_203446.3(SYNJ1):c.1306A>G (p.Ile436Val)
|
rs763870801
|
0.00002
|
NM_203446.3(SYNJ1):c.1346A>G (p.Lys449Arg)
|
rs772361584
|
0.00002
|
NM_203446.3(SYNJ1):c.1566G>A (p.Glu522=)
|
rs1314584710
|
0.00002
|
NM_203446.3(SYNJ1):c.1707T>G (p.Ala569=)
|
rs1384171922
|
0.00002
|
NM_203446.3(SYNJ1):c.1867A>G (p.Asn623Asp)
|
rs377719553
|
0.00002
|
NM_203446.3(SYNJ1):c.1959T>G (p.Val653=)
|
rs747138067
|
0.00002
|
NM_203446.3(SYNJ1):c.199C>T (p.Arg67Trp)
|
rs372488661
|
0.00002
|
NM_203446.3(SYNJ1):c.2025A>G (p.Arg675=)
|
rs987102051
|
0.00002
|
NM_203446.3(SYNJ1):c.2113A>G (p.Ile705Val)
|
rs761614356
|
0.00002
|
NM_203446.3(SYNJ1):c.2145+13T>C
|
rs779562990
|
0.00002
|
NM_203446.3(SYNJ1):c.2236A>C (p.Ile746Leu)
|
rs2040867077
|
0.00002
|
NM_203446.3(SYNJ1):c.2264T>C (p.Ile755Thr)
|
rs766613161
|
0.00002
|
NM_203446.3(SYNJ1):c.2302C>G (p.Gln768Glu)
|
rs200612458
|
0.00002
|
NM_203446.3(SYNJ1):c.2352T>C (p.Tyr784=)
|
rs766117241
|
0.00002
|
NM_203446.3(SYNJ1):c.2373C>T (p.Asp791=)
|
rs374390032
|
0.00002
|
NM_203446.3(SYNJ1):c.2399G>A (p.Arg800His)
|
rs748767686
|
0.00002
|
NM_203446.3(SYNJ1):c.2609T>C (p.Ile870Thr)
|
rs753305423
|
0.00002
|
NM_203446.3(SYNJ1):c.2715A>G (p.Pro905=)
|
rs771107718
|
0.00002
|
NM_203446.3(SYNJ1):c.2844C>T (p.Ala948=)
|
rs1432339434
|
0.00002
|
NM_203446.3(SYNJ1):c.2958T>C (p.Ile986=)
|
rs879835661
|
0.00002
|
NM_203446.3(SYNJ1):c.2981C>A (p.Thr994Lys)
|
rs776726487
|
0.00002
|
NM_203446.3(SYNJ1):c.29A>G (p.Tyr10Cys)
|
rs967674859
|
0.00002
|
NM_203446.3(SYNJ1):c.3179C>G (p.Pro1060Arg)
|
rs1430500307
|
0.00002
|
NM_203446.3(SYNJ1):c.3215C>A (p.Pro1072Gln)
|
rs771524798
|
0.00002
|
NM_203446.3(SYNJ1):c.3327G>A (p.Pro1109=)
|
rs1436978655
|
0.00002
|
NM_203446.3(SYNJ1):c.3347C>T (p.Pro1116Leu)
|
rs765746949
|
0.00002
|
NM_203446.3(SYNJ1):c.343C>T (p.Arg115Cys)
|
rs370189840
|
0.00002
|
NM_203446.3(SYNJ1):c.3520C>T (p.Arg1174Cys)
|
rs1367145848
|
0.00002
|
NM_203446.3(SYNJ1):c.3550G>C (p.Ala1184Pro)
|
rs772565258
|
0.00002
|
NM_203446.3(SYNJ1):c.3633C>T (p.His1211=)
|
rs771394723
|
0.00002
|
NM_203446.3(SYNJ1):c.3636G>A (p.Ala1212=)
|
rs576444776
|
0.00002
|
NM_203446.3(SYNJ1):c.3652A>G (p.Arg1218Gly)
|
rs139146760
|
0.00002
|
NM_203446.3(SYNJ1):c.3689C>T (p.Thr1230Met)
|
rs752805765
|
0.00002
|
NM_203446.3(SYNJ1):c.3693G>A (p.Ser1231=)
|
rs755437097
|
0.00002
|
NM_203446.3(SYNJ1):c.3722T>C (p.Leu1241Pro)
|
rs548516848
|
0.00002
|
NM_203446.3(SYNJ1):c.3732G>A (p.Gln1244=)
|
rs765653482
|
0.00002
|
NM_203446.3(SYNJ1):c.3807A>C (p.Ala1269=)
|
rs759164699
|
0.00002
|
NM_203446.3(SYNJ1):c.409A>G (p.Ile137Val)
|
rs780191673
|
0.00002
|
NM_203446.3(SYNJ1):c.41A>G (p.Asp14Gly)
|
rs565807712
|
0.00002
|
NM_203446.3(SYNJ1):c.480-18T>G
|
rs1242153000
|
0.00002
|
NM_203446.3(SYNJ1):c.601G>T (p.Ala201Ser)
|
rs371958110
|
0.00002
|
NM_203446.3(SYNJ1):c.684C>T (p.Ala228=)
|
rs376985894
|
0.00002
|
NM_203446.3(SYNJ1):c.685A>C (p.Asn229His)
|
rs1430187026
|
0.00002
|
NM_203446.3(SYNJ1):c.803G>A (p.Arg268His)
|
rs201796096
|
0.00002
|
NM_203446.3(SYNJ1):c.851+5G>A
|
rs758443410
|
0.00002
|
NM_203446.3(SYNJ1):c.889A>G (p.Ile297Val)
|
rs775110785
|
0.00002
|
NM_203446.3(SYNJ1):c.930G>A (p.Met310Ile)
|
rs749045961
|
0.00002
|
NM_000157.4(GBA1):c.1043C>G (p.Ala348Gly)
|
rs78396650
|
0.00001
|
NM_000157.4(GBA1):c.104C>T (p.Ser35Leu)
|
rs757041827
|
0.00001
|
NM_000157.4(GBA1):c.1085C>T (p.Thr362Ile)
|
rs76539814
|
0.00001
|
NM_000157.4(GBA1):c.1090G>A (p.Gly364Arg)
|
rs121908305
|
0.00001
|
NM_000157.4(GBA1):c.1246G>A (p.Gly416Ser)
|
rs121908311
|
0.00001
|
NM_000157.4(GBA1):c.1297G>T (p.Val433Leu)
|
rs80356769
|
0.00001
|
NM_000157.4(GBA1):c.259C>T (p.Arg87Trp)
|
rs1141814
|
0.00001
|
NM_000157.4(GBA1):c.595_596del (p.Leu199fs)
|
rs749714463
|
0.00001
|
NM_000157.4(GBA1):c.604C>T (p.Arg202Ter)
|
rs1009850780
|
0.00001
|
NM_000157.4(GBA1):c.703T>C (p.Ser235Pro)
|
rs1064644
|
0.00001
|
NM_000157.4(GBA1):c.754T>A (p.Phe252Ile)
|
rs381737
|
0.00001
|
NM_000157.4(GBA1):c.764T>A (p.Phe255Tyr)
|
rs74500255
|
0.00001
|
NM_000157.4(GBA1):c.896T>C (p.Ile299Thr)
|
rs794727908
|
0.00001
|
NM_000345.4(SNCA):c.246G>A (p.Val82=)
|
rs775179895
|
0.00001
|
NM_000345.4(SNCA):c.306+8T>C
|
rs758513669
|
0.00001
|
NM_000345.4(SNCA):c.359C>T (p.Pro120Leu)
|
rs1024288001
|
0.00001
|
NM_000345.4(SNCA):c.382C>A (p.Pro128Thr)
|
rs750899874
|
0.00001
|
NM_000345.4(SNCA):c.44T>C (p.Val15Ala)
|
rs1739238968
|
0.00001
|
NM_000345.4(SNCA):c.71A>G (p.Gln24Arg)
|
rs1739236610
|
0.00001
|
NM_001044.5(SLC6A3):c.1081G>A (p.Gly361Ser)
|
rs766875221
|
0.00001
|
NM_001044.5(SLC6A3):c.1110C>T (p.Tyr370=)
|
rs146814731
|
0.00001
|
NM_001044.5(SLC6A3):c.1184C>T (p.Pro395Leu)
|
rs267607069
|
0.00001
|
NM_001044.5(SLC6A3):c.1185G>A (p.Pro395=)
|
rs372175437
|
0.00001
|
NM_001044.5(SLC6A3):c.1200G>A (p.Thr400=)
|
rs199564835
|
0.00001
|
NM_001044.5(SLC6A3):c.1269+1G>A
|
rs431905504
|
0.00001
|
NM_001044.5(SLC6A3):c.129C>T (p.Thr43=)
|
rs1179801580
|
0.00001
|
NM_001044.5(SLC6A3):c.1335T>G (p.Arg445=)
|
rs762754512
|
0.00001
|
NM_001044.5(SLC6A3):c.1350C>T (p.Leu450=)
|
rs1373372460
|
0.00001
|
NM_001044.5(SLC6A3):c.1398+4C>T
|
rs567904721
|
0.00001
|
NM_001044.5(SLC6A3):c.1411G>A (p.Val471Ile)
|
rs75916702
|
0.00001
|
NM_001044.5(SLC6A3):c.1479C>T (p.Ile493=)
|
rs764518683
|
0.00001
|
NM_001044.5(SLC6A3):c.1499-14C>T
|
rs774641284
|
0.00001
|
NM_001044.5(SLC6A3):c.152G>A (p.Arg51Gln)
|
rs774827862
|
0.00001
|
NM_001044.5(SLC6A3):c.1544G>A (p.Arg515Gln)
|
rs1236294203
|
0.00001
|
NM_001044.5(SLC6A3):c.1561C>T (p.Arg521Trp)
|
rs431905516
|
0.00001
|
NM_001044.5(SLC6A3):c.1599+13G>A
|
rs763612604
|
0.00001
|
NM_001044.5(SLC6A3):c.1603G>A (p.Val535Met)
|
rs553219765
|
0.00001
|
NM_001044.5(SLC6A3):c.163G>A (p.Val55Met)
|
rs751986313
|
0.00001
|
NM_001044.5(SLC6A3):c.1771C>T (p.Leu591=)
|
rs376015219
|
0.00001
|
NM_001044.5(SLC6A3):c.1783A>G (p.Ile595Val)
|
rs758010586
|
0.00001
|
NM_001044.5(SLC6A3):c.1825G>A (p.Val609Met)
|
rs1176423145
|
0.00001
|
NM_001044.5(SLC6A3):c.1844G>A (p.Arg615His)
|
rs750470875
|
0.00001
|
NM_001044.5(SLC6A3):c.216C>T (p.Ser72=)
|
rs373050350
|
0.00001
|
NM_001044.5(SLC6A3):c.285C>T (p.Gly95=)
|
rs201707183
|
0.00001
|
NM_001044.5(SLC6A3):c.375G>A (p.Arg125=)
|
rs772708278
|
0.00001
|
NM_001044.5(SLC6A3):c.40G>A (p.Val14Met)
|
rs190367530
|
0.00001
|
NM_001044.5(SLC6A3):c.419-6C>T
|
rs540824168
|
0.00001
|
NM_001044.5(SLC6A3):c.431C>T (p.Thr144Met)
|
rs746715018
|
0.00001
|
NM_001044.5(SLC6A3):c.448C>G (p.Leu150Val)
|
rs778416596
|
0.00001
|
NM_001044.5(SLC6A3):c.450G>A (p.Leu150=)
|
rs757203667
|
0.00001
|
NM_001044.5(SLC6A3):c.472G>A (p.Val158Ile)
|
rs543317006
|
0.00001
|
NM_001044.5(SLC6A3):c.48C>A (p.Ala16=)
|
rs762569986
|
0.00001
|
NM_001044.5(SLC6A3):c.569C>T (p.Ser190Leu)
|
rs1483254325
|
0.00001
|
NM_001044.5(SLC6A3):c.574G>A (p.Ala192Thr)
|
rs200132776
|
0.00001
|
NM_001044.5(SLC6A3):c.594T>G (p.Ser198Arg)
|
rs780048733
|
0.00001
|
NM_001044.5(SLC6A3):c.625G>A (p.Gly209Arg)
|
rs372788698
|
0.00001
|
NM_001044.5(SLC6A3):c.656G>A (p.Arg219His)
|
rs753109365
|
0.00001
|
NM_001044.5(SLC6A3):c.707C>T (p.Pro236Leu)
|
rs760467074
|
0.00001
|
NM_001044.5(SLC6A3):c.732G>C (p.Leu244=)
|
rs771007893
|
0.00001
|
NM_001044.5(SLC6A3):c.742A>G (p.Ile248Val)
|
rs1365255948
|
0.00001
|
NM_001044.5(SLC6A3):c.82G>C (p.Glu28Gln)
|
rs866199902
|
0.00001
|
NM_001044.5(SLC6A3):c.911G>A (p.Arg304Gln)
|
rs748308614
|
0.00001
|
NM_001044.5(SLC6A3):c.915C>A (p.Leu305=)
|
rs200732142
|
0.00001
|
NM_001044.5(SLC6A3):c.918C>T (p.Cys306=)
|
rs746199611
|
0.00001
|
NM_001044.5(SLC6A3):c.935T>C (p.Ile312Thr)
|
rs1756287215
|
0.00001
|
NM_001135674.2(SMIM19):c.-254G>T
|
rs1003849503
|
0.00001
|
NM_001135674.2(SMIM19):c.-365C>A
|
rs1206770675
|
0.00001
|
NM_001135674.2(SMIM19):c.-456A>C
|
rs1335860382
|
0.00001
|
NM_001135674.2(SMIM19):c.-543G>A
|
rs1813220345
|
0.00001
|
NM_001256864.2(DNAJC6):c.101G>C (p.Gly34Ala)
|
rs956622990
|
0.00001
|
NM_001256864.2(DNAJC6):c.154C>G (p.Arg52Gly)
|
rs547312338
|
0.00001
|
NM_001256864.2(DNAJC6):c.1646C>T (p.Pro549Leu)
|
rs1230286867
|
0.00001
|
NM_001256864.2(DNAJC6):c.170G>T (p.Arg57Leu)
|
rs747115530
|
0.00001
|
NM_001256864.2(DNAJC6):c.1716G>A (p.Ala572=)
|
rs201766287
|
0.00001
|
NM_001256864.2(DNAJC6):c.1755T>C (p.Phe585=)
|
rs1412214392
|
0.00001
|
NM_001256864.2(DNAJC6):c.1877C>T (p.Ala626Val)
|
rs761922985
|
0.00001
|
NM_001256864.2(DNAJC6):c.2003T>A (p.Leu668His)
|
rs1363537326
|
0.00001
|
NM_001256864.2(DNAJC6):c.2020C>T (p.Pro674Ser)
|
rs749594846
|
0.00001
|
NM_001256864.2(DNAJC6):c.2086T>C (p.Trp696Arg)
|
rs1462099424
|
0.00001
|
NM_001256864.2(DNAJC6):c.2107+3A>G
|
rs371583880
|
0.00001
|
NM_001256864.2(DNAJC6):c.2223A>T (p.Thr741=)
|
rs879255554
|
0.00001
|
NM_001256864.2(DNAJC6):c.2228-3T>C
|
rs753885398
|
0.00001
|
NM_001256864.2(DNAJC6):c.224A>G (p.Tyr75Cys)
|
rs1394529150
|
0.00001
|
NM_001256864.2(DNAJC6):c.2290C>T (p.Leu764Phe)
|
rs917235831
|
0.00001
|
NM_001256864.2(DNAJC6):c.2468G>A (p.Arg823His)
|
rs201984806
|
0.00001
|
NM_001256864.2(DNAJC6):c.2687C>T (p.Thr896Met)
|
rs200138922
|
0.00001
|
NM_001256864.2(DNAJC6):c.2762A>T (p.Gln921Leu)
|
rs1203943853
|
0.00001
|
NM_001256864.2(DNAJC6):c.2873G>T (p.Trp958Leu)
|
rs1380186979
|
0.00001
|
NM_001256864.2(DNAJC6):c.521G>A (p.Arg174Gln)
|
rs895749847
|
0.00001
|
NM_001256864.2(DNAJC6):c.751T>C (p.Leu251=)
|
rs755098010
|
0.00001
|
NM_001256864.2(DNAJC6):c.833A>G (p.Asp278Gly)
|
rs368290134
|
0.00001
|
NM_001256864.2(DNAJC6):c.897C>G (p.Pro299=)
|
rs371261372
|
0.00001
|
NM_001257180.2(SLC20A2):c.*539G>A
|
rs1404962993
|
0.00001
|
NM_001257180.2(SLC20A2):c.*925G>T
|
rs1466633393
|
0.00001
|
NM_001257180.2(SLC20A2):c.-264-4A>G
|
rs1030242859
|
0.00001
|
NM_001257180.2(SLC20A2):c.1197C>T (p.His399=)
|
rs767994782
|
0.00001
|
NM_001257180.2(SLC20A2):c.1377G>T (p.Glu459Asp)
|
rs144428935
|
0.00001
|
NM_001257180.2(SLC20A2):c.1439C>T (p.Ala480Val)
|
rs748282424
|
0.00001
|
NM_001257180.2(SLC20A2):c.1703C>T (p.Pro568Leu)
|
rs763252801
|
0.00001
|
NM_001257180.2(SLC20A2):c.1794+1G>C
|
rs1052304545
|
0.00001
|
NM_001257180.2(SLC20A2):c.568A>G (p.Thr190Ala)
|
rs1272921798
|
0.00001
|
NM_001257180.2(SLC20A2):c.679G>A (p.Ala227Thr)
|
rs140978915
|
0.00001
|
NM_001257180.2(SLC20A2):c.883C>T (p.Leu295=)
|
rs1212922301
|
0.00001
|
NM_001377265.1(MAPT):c.89C>T (p.Thr30Ile)
|
rs374996228
|
0.00001
|
NM_002608.4(PDGFB):c.433C>T (p.Gln145Ter)
|
rs397515631
|
0.00001
|
NM_002609.4(PDGFRB):c.1378G>A (p.Glu460Lys)
|
rs202179598
|
0.00001
|
NM_002609.4(PDGFRB):c.1472T>C (p.Val491Ala)
|
rs540480924
|
0.00001
|
NM_002609.4(PDGFRB):c.1681C>T (p.Arg561Cys)
|
rs367543286
|
0.00001
|
NM_002609.4(PDGFRB):c.1687G>A (p.Glu563Lys)
|
rs1483057981
|
0.00001
|
NM_002609.4(PDGFRB):c.1777T>C (p.Trp593Arg)
|
rs770027941
|
0.00001
|
NM_002609.4(PDGFRB):c.1804del (p.Leu602fs)
|
rs771859820
|
0.00001
|
NM_002609.4(PDGFRB):c.1853C>T (p.Thr618Met)
|
rs139554380
|
0.00001
|
NM_002609.4(PDGFRB):c.1884G>A (p.Thr628=)
|
rs201518972
|
0.00001
|
NM_002609.4(PDGFRB):c.1978C>A (p.Pro660Thr)
|
rs144050370
|
0.00001
|
NM_002609.4(PDGFRB):c.2238C>T (p.Asp746=)
|
rs555800957
|
0.00001
|
NM_002609.4(PDGFRB):c.2326G>A (p.Asp776Asn)
|
rs751904503
|
0.00001
|
NM_002609.4(PDGFRB):c.2467G>A (p.Val823Ile)
|
rs377442091
|
0.00001
|
NM_002609.4(PDGFRB):c.2587-5T>C
|
rs758524703
|
0.00001
|
NM_002609.4(PDGFRB):c.2588C>A (p.Thr863Asn)
|
rs750896639
|
0.00001
|
NM_002609.4(PDGFRB):c.2890G>A (p.Glu964Lys)
|
rs747398617
|
0.00001
|
NM_002609.4(PDGFRB):c.2954T>C (p.Ile985Thr)
|
rs753367645
|
0.00001
|
NM_002609.4(PDGFRB):c.2959C>T (p.Arg987Trp)
|
rs397509382
|
0.00001
|
NM_002609.4(PDGFRB):c.3292C>T (p.Arg1098Trp)
|
rs267600485
|
0.00001
|
NM_002609.4(PDGFRB):c.419C>T (p.Thr140Met)
|
rs138830253
|
0.00001
|
NM_002609.4(PDGFRB):c.438C>A (p.Thr146=)
|
rs764023871
|
0.00001
|
NM_002609.4(PDGFRB):c.615T>C (p.Tyr205=)
|
rs756283680
|
0.00001
|
NM_002609.4(PDGFRB):c.646G>A (p.Val216Ile)
|
rs370817438
|
0.00001
|
NM_002609.4(PDGFRB):c.726G>C (p.Val242=)
|
rs149027530
|
0.00001
|
NM_002609.4(PDGFRB):c.783G>A (p.Val261=)
|
rs142649064
|
0.00001
|
NM_002609.4(PDGFRB):c.858G>A (p.Ser286=)
|
rs778116813
|
0.00001
|
NM_002609.4(PDGFRB):c.875A>G (p.Asn292Ser)
|
rs1175765188
|
0.00001
|
NM_002609.4(PDGFRB):c.937A>G (p.Ser313Gly)
|
rs1580808180
|
0.00001
|
NM_002609.4(PDGFRB):c.94G>A (p.Gly32Ser)
|
rs761286709
|
0.00001
|
NM_002778.4(PSAP):c.470A>G (p.Asn157Ser)
|
rs756379007
|
0.00001
|
NM_003560.4(PLA2G6):c.1061T>C (p.Leu354Pro)
|
rs1403125636
|
0.00001
|
NM_003560.4(PLA2G6):c.1077G>A (p.Ser359=)
|
rs368497893
|
0.00001
|
NM_003560.4(PLA2G6):c.1427+1G>A
|
rs750939090
|
0.00001
|
NM_003560.4(PLA2G6):c.1531C>G (p.Leu511Val)
|
rs886057503
|
0.00001
|
NM_003560.4(PLA2G6):c.2233C>T (p.Arg745Trp)
|
rs587784350
|
0.00001
|
NM_003560.4(PLA2G6):c.2236G>T (p.Ala746Ser)
|
rs563222818
|
0.00001
|
NM_003560.4(PLA2G6):c.238G>A (p.Ala80Thr)
|
rs121908685
|
0.00001
|
NM_003560.4(PLA2G6):c.68G>A (p.Arg23Gln)
|
rs372291638
|
0.00001
|
NM_003690.5(PRKRA):c.-117C>T
|
rs886055204
|
0.00001
|
NM_003690.5(PRKRA):c.-141C>A
|
rs1395280729
|
0.00001
|
NM_003690.5(PRKRA):c.397-3T>C
|
rs200249113
|
0.00001
|
NM_003690.5(PRKRA):c.397-6T>G
|
rs1031316165
|
0.00001
|
NM_003690.5(PRKRA):c.40G>A (p.Glu14Lys)
|
rs933550231
|
0.00001
|
NM_003690.5(PRKRA):c.611C>G (p.Thr204Arg)
|
rs1351253817
|
0.00001
|
NM_003690.5(PRKRA):c.766A>G (p.Ile256Val)
|
rs769913085
|
0.00001
|
NM_003690.5(PRKRA):c.77T>A (p.Met26Lys)
|
rs755656753
|
0.00001
|
NM_003690.5(PRKRA):c.792G>C (p.Leu264=)
|
rs750650286
|
0.00001
|
NM_003690.5(PRKRA):c.800A>G (p.Asn267Ser)
|
rs557879457
|
0.00001
|
NM_003690.5(PRKRA):c.80T>C (p.Ile27Thr)
|
rs780703241
|
0.00001
|
NM_003690.5(PRKRA):c.902A>G (p.Asn301Ser)
|
rs778511975
|
0.00001
|
NM_003719.5(PDE8B):c.*445G>A
|
rs1347915203
|
0.00001
|
NM_003719.5(PDE8B):c.*865G>A
|
rs202157206
|
0.00001
|
NM_003719.5(PDE8B):c.125G>C (p.Gly42Ala)
|
rs886060754
|
0.00001
|
NM_003719.5(PDE8B):c.1447C>T (p.Arg483Trp)
|
rs1441711806
|
0.00001
|
NM_003719.5(PDE8B):c.570C>T (p.Phe190=)
|
rs770115784
|
0.00001
|
NM_004082.5(DCTN1):c.*57C>T
|
rs567051449
|
0.00001
|
NM_004082.5(DCTN1):c.1002G>A (p.Glu334=)
|
rs757723673
|
0.00001
|
NM_004082.5(DCTN1):c.1022T>G (p.Ile341Ser)
|
rs1674769234
|
0.00001
|
NM_004082.5(DCTN1):c.102G>A (p.Glu34=)
|
rs1207116898
|
0.00001
|
NM_004082.5(DCTN1):c.1059C>T (p.Gly353=)
|
rs771325809
|
0.00001
|
NM_004082.5(DCTN1):c.1105C>T (p.Arg369Cys)
|
rs149499018
|
0.00001
|
NM_004082.5(DCTN1):c.1128-3C>G
|
rs914567815
|
0.00001
|
NM_004082.5(DCTN1):c.1155G>A (p.Lys385=)
|
rs763048243
|
0.00001
|
NM_004082.5(DCTN1):c.1171C>A (p.Leu391Ile)
|
rs1282851211
|
0.00001
|
NM_004082.5(DCTN1):c.1217G>A (p.Arg406Lys)
|
rs1040712616
|
0.00001
|
NM_004082.5(DCTN1):c.1238A>G (p.Gln413Arg)
|
rs745458066
|
0.00001
|
NM_004082.5(DCTN1):c.1261A>G (p.Ser421Gly)
|
rs1417901024
|
0.00001
|
NM_004082.5(DCTN1):c.1288-18A>G
|
rs770601874
|
0.00001
|
NM_004082.5(DCTN1):c.1288-6A>G
|
rs1236101222
|
0.00001
|
NM_004082.5(DCTN1):c.1364G>A (p.Arg455His)
|
rs763277715
|
0.00001
|
NM_004082.5(DCTN1):c.1420C>T (p.Leu474=)
|
rs139100051
|
0.00001
|
NM_004082.5(DCTN1):c.1430A>G (p.Asn477Ser)
|
rs756081164
|
0.00001
|
NM_004082.5(DCTN1):c.1456C>T (p.Arg486Trp)
|
rs759801622
|
0.00001
|
NM_004082.5(DCTN1):c.1479C>T (p.Gly493=)
|
rs754282487
|
0.00001
|
NM_004082.5(DCTN1):c.1481C>T (p.Ala494Val)
|
rs761331951
|
0.00001
|
NM_004082.5(DCTN1):c.1483C>T (p.Arg495Trp)
|
rs184840910
|
0.00001
|
NM_004082.5(DCTN1):c.1489C>T (p.Arg497Cys)
|
rs1327106238
|
0.00001
|
NM_004082.5(DCTN1):c.1505G>A (p.Arg502His)
|
rs780066070
|
0.00001
|
NM_004082.5(DCTN1):c.1526C>T (p.Thr509Met)
|
rs967117932
|
0.00001
|
NM_004082.5(DCTN1):c.1527G>A (p.Thr509=)
|
rs777762235
|
0.00001
|
NM_004082.5(DCTN1):c.153G>A (p.Leu51=)
|
rs765144648
|
0.00001
|
NM_004082.5(DCTN1):c.1585-10C>T
|
rs1573159255
|
0.00001
|
NM_004082.5(DCTN1):c.1585-5C>G
|
rs762445148
|
0.00001
|
NM_004082.5(DCTN1):c.1594C>G (p.Arg532Gly)
|
rs563630664
|
0.00001
|
NM_004082.5(DCTN1):c.1610A>G (p.Gln537Arg)
|
rs4994503
|
0.00001
|
NM_004082.5(DCTN1):c.1692C>T (p.Ala564=)
|
rs886043620
|
0.00001
|
NM_004082.5(DCTN1):c.1701+15T>G
|
rs375345080
|
0.00001
|
NM_004082.5(DCTN1):c.1702-8C>T
|
rs1223678248
|
0.00001
|
NM_004082.5(DCTN1):c.1712T>C (p.Met571Thr)
|
rs121909343
|
0.00001
|
NM_004082.5(DCTN1):c.1770C>T (p.Ala590=)
|
rs373649455
|
0.00001
|
NM_004082.5(DCTN1):c.1774A>G (p.Met592Val)
|
rs778331682
|
0.00001
|
NM_004082.5(DCTN1):c.177C>T (p.Gly59=)
|
rs72466484
|
0.00001
|
NM_004082.5(DCTN1):c.1780G>C (p.Asp594His)
|
rs1200525088
|
0.00001
|
NM_004082.5(DCTN1):c.1784G>A (p.Ser595Asn)
|
rs1243051229
|
0.00001
|
NM_004082.5(DCTN1):c.1793G>A (p.Arg598Gln)
|
rs779723221
|
0.00001
|
NM_004082.5(DCTN1):c.1816G>A (p.Val606Ile)
|
rs375778151
|
0.00001
|
NM_004082.5(DCTN1):c.1837C>T (p.Pro613Ser)
|
rs372808221
|
0.00001
|
NM_004082.5(DCTN1):c.1867C>T (p.Arg623Trp)
|
rs764568642
|
0.00001
|
NM_004082.5(DCTN1):c.1944G>T (p.Glu648Asp)
|
rs1674555206
|
0.00001
|
NM_004082.5(DCTN1):c.1977G>A (p.Ser659=)
|
rs750553689
|
0.00001
|
NM_004082.5(DCTN1):c.2054T>G (p.Val685Gly)
|
rs774272417
|
0.00001
|
NM_004082.5(DCTN1):c.2083C>T (p.His695Tyr)
|
rs756952260
|
0.00001
|
NM_004082.5(DCTN1):c.2103C>G (p.Phe701Leu)
|
rs1309359471
|
0.00001
|
NM_004082.5(DCTN1):c.2205T>G (p.Leu735=)
|
rs773099597
|
0.00001
|
NM_004082.5(DCTN1):c.2253+4A>T
|
rs1674495774
|
0.00001
|
NM_004082.5(DCTN1):c.2254-10A>G
|
rs954787850
|
0.00001
|
NM_004082.5(DCTN1):c.2254-5C>T
|
rs746514094
|
0.00001
|
NM_004082.5(DCTN1):c.2269C>T (p.Leu757=)
|
rs778632270
|
0.00001
|
NM_004082.5(DCTN1):c.228G>A (p.Arg76=)
|
rs1480799137
|
0.00001
|
NM_004082.5(DCTN1):c.2296C>T (p.Arg766Trp)
|
rs766338463
|
0.00001
|
NM_004082.5(DCTN1):c.2297G>A (p.Arg766Gln)
|
rs200611961
|
0.00001
|
NM_004082.5(DCTN1):c.2315A>G (p.Gln772Arg)
|
rs1648520142
|
0.00001
|
NM_004082.5(DCTN1):c.2341G>T (p.Ala781Ser)
|
rs1266701728
|
0.00001
|
NM_004082.5(DCTN1):c.2357A>G (p.Asp786Gly)
|
rs752889408
|
0.00001
|
NM_004082.5(DCTN1):c.2384G>A (p.Arg795His)
|
rs377530504
|
0.00001
|
NM_004082.5(DCTN1):c.2396A>G (p.Lys799Arg)
|
rs773793200
|
0.00001
|
NM_004082.5(DCTN1):c.2411G>A (p.Arg804Gln)
|
rs1443384895
|
0.00001
|
NM_004082.5(DCTN1):c.2439C>G (p.Ile813Met)
|
rs1313684238
|
0.00001
|
NM_004082.5(DCTN1):c.2466+16T>G
|
rs892038213
|
0.00001
|
NM_004082.5(DCTN1):c.2467-14G>C
|
rs369260205
|
0.00001
|
NM_004082.5(DCTN1):c.2467-16C>G
|
rs984523563
|
0.00001
|
NM_004082.5(DCTN1):c.2467-6A>G
|
rs150222185
|
0.00001
|
NM_004082.5(DCTN1):c.2467-8G>T
|
rs779001284
|
0.00001
|
NM_004082.5(DCTN1):c.2467G>A (p.Val823Ile)
|
rs753992154
|
0.00001
|
NM_004082.5(DCTN1):c.2478G>A (p.Thr826=)
|
rs1473795697
|
0.00001
|
NM_004082.5(DCTN1):c.2499C>T (p.His833=)
|
rs750731203
|
0.00001
|
NM_004082.5(DCTN1):c.2505G>A (p.Thr835=)
|
rs767877041
|
0.00001
|
NM_004082.5(DCTN1):c.2511C>T (p.Val837=)
|
rs377519506
|
0.00001
|
NM_004082.5(DCTN1):c.2523G>T (p.Leu841=)
|
rs199501797
|
0.00001
|
NM_004082.5(DCTN1):c.2532G>C (p.Val844=)
|
rs775122005
|
0.00001
|
NM_004082.5(DCTN1):c.2545G>A (p.Ala849Thr)
|
rs769512188
|
0.00001
|
NM_004082.5(DCTN1):c.2585T>C (p.Leu862Pro)
|
rs777542005
|
0.00001
|
NM_004082.5(DCTN1):c.258C>T (p.Gly86=)
|
rs140054458
|
0.00001
|
NM_004082.5(DCTN1):c.260T>C (p.Ile87Thr)
|
rs72466488
|
0.00001
|
NM_004082.5(DCTN1):c.2622C>T (p.Ser874=)
|
rs1367060889
|
0.00001
|
NM_004082.5(DCTN1):c.2629-4G>A
|
rs201090138
|
0.00001
|
NM_004082.5(DCTN1):c.2639C>T (p.Thr880Ile)
|
rs758789274
|
0.00001
|
NM_004082.5(DCTN1):c.2640C>T (p.Thr880=)
|
rs1453065894
|
0.00001
|
NM_004082.5(DCTN1):c.2660A>C (p.Glu887Ala)
|
rs1166896176
|
0.00001
|
NM_004082.5(DCTN1):c.2668C>T (p.Arg890Cys)
|
rs767379191
|
0.00001
|
NM_004082.5(DCTN1):c.2679C>T (p.Cys893=)
|
rs1253918840
|
0.00001
|
NM_004082.5(DCTN1):c.2686C>G (p.Leu896Val)
|
rs545910781
|
0.00001
|
NM_004082.5(DCTN1):c.2760+20G>T
|
rs371973468
|
0.00001
|
NM_004082.5(DCTN1):c.2761-5C>T
|
rs749706596
|
0.00001
|
NM_004082.5(DCTN1):c.2779C>T (p.Arg927Trp)
|
rs758168607
|
0.00001
|
NM_004082.5(DCTN1):c.279+10C>T
|
rs1433805841
|
0.00001
|
NM_004082.5(DCTN1):c.2795G>A (p.Arg932His)
|
rs767725965
|
0.00001
|
NM_004082.5(DCTN1):c.2836G>A (p.Glu946Lys)
|
rs780644304
|
0.00001
|
NM_004082.5(DCTN1):c.2883T>G (p.Ile961Met)
|
rs754893423
|
0.00001
|
NM_004082.5(DCTN1):c.2914C>T (p.Arg972Trp)
|
rs756183069
|
0.00001
|
NM_004082.5(DCTN1):c.2938T>C (p.Leu980=)
|
rs370060938
|
0.00001
|
NM_004082.5(DCTN1):c.2969G>A (p.Arg990His)
|
rs369129714
|
0.00001
|
NM_004082.5(DCTN1):c.3009A>G (p.Ala1003=)
|
rs781233291
|
0.00001
|
NM_004082.5(DCTN1):c.3029+20G>A
|
rs1263362778
|
0.00001
|
NM_004082.5(DCTN1):c.3051T>C (p.Asp1017=)
|
rs1573147984
|
0.00001
|
NM_004082.5(DCTN1):c.3069C>T (p.Ile1023=)
|
rs780292959
|
0.00001
|
NM_004082.5(DCTN1):c.3123C>G (p.Ser1041=)
|
rs769629500
|
0.00001
|
NM_004082.5(DCTN1):c.3152C>T (p.Pro1051Leu)
|
rs746148076
|
0.00001
|
NM_004082.5(DCTN1):c.3185G>A (p.Gly1062Asp)
|
rs764918482
|
0.00001
|
NM_004082.5(DCTN1):c.3187A>G (p.Ile1063Val)
|
rs759276455
|
0.00001
|
NM_004082.5(DCTN1):c.3196+8C>T
|
rs1288930704
|
0.00001
|
NM_004082.5(DCTN1):c.3197-13A>G
|
rs374049568
|
0.00001
|
NM_004082.5(DCTN1):c.3199G>T (p.Glu1067Ter)
|
rs376996779
|
0.00001
|
NM_004082.5(DCTN1):c.3211+17G>A
|
rs373651754
|
0.00001
|
NM_004082.5(DCTN1):c.3241G>A (p.Val1081Met)
|
rs764028925
|
0.00001
|
NM_004082.5(DCTN1):c.3250C>T (p.Pro1084Ser)
|
rs201918007
|
0.00001
|
NM_004082.5(DCTN1):c.3254G>A (p.Gly1085Glu)
|
rs1274754432
|
0.00001
|
NM_004082.5(DCTN1):c.3291C>T (p.Ile1097=)
|
rs769145486
|
0.00001
|
NM_004082.5(DCTN1):c.3292T>G (p.Ser1098Ala)
|
rs749776779
|
0.00001
|
NM_004082.5(DCTN1):c.32G>A (p.Arg11Gln)
|
rs749196418
|
0.00001
|
NM_004082.5(DCTN1):c.3309C>T (p.His1103=)
|
rs756911555
|
0.00001
|
NM_004082.5(DCTN1):c.3312C>T (p.Ile1104=)
|
rs777452161
|
0.00001
|
NM_004082.5(DCTN1):c.3322C>G (p.Gln1108Glu)
|
rs374567374
|
0.00001
|
NM_004082.5(DCTN1):c.3373T>A (p.Ser1125Thr)
|
rs1191490257
|
0.00001
|
NM_004082.5(DCTN1):c.3440C>T (p.Ala1147Val)
|
rs534309303
|
0.00001
|
NM_004082.5(DCTN1):c.3441G>A (p.Ala1147=)
|
rs760282295
|
0.00001
|
NM_004082.5(DCTN1):c.3448C>T (p.Arg1150Cys)
|
rs1194029274
|
0.00001
|
NM_004082.5(DCTN1):c.3449G>A (p.Arg1150His)
|
rs771822061
|
0.00001
|
NM_004082.5(DCTN1):c.3478A>C (p.Asn1160His)
|
rs747831061
|
0.00001
|
NM_004082.5(DCTN1):c.3502G>A (p.Val1168Ile)
|
rs373550911
|
0.00001
|
NM_004082.5(DCTN1):c.358+12C>T
|
rs759791002
|
0.00001
|
NM_004082.5(DCTN1):c.358+15C>T
|
rs753119702
|
0.00001
|
NM_004082.5(DCTN1):c.359-10C>T
|
rs568747765
|
0.00001
|
NM_004082.5(DCTN1):c.3610-6C>T
|
rs751068198
|
0.00001
|
NM_004082.5(DCTN1):c.3611A>G (p.Asp1204Gly)
|
rs1180149480
|
0.00001
|
NM_004082.5(DCTN1):c.3621C>T (p.Leu1207=)
|
rs1032786897
|
0.00001
|
NM_004082.5(DCTN1):c.3641G>A (p.Arg1214His)
|
rs554008879
|
0.00001
|
NM_004082.5(DCTN1):c.3660C>G (p.Pro1220=)
|
rs1346257186
|
0.00001
|
NM_004082.5(DCTN1):c.3666C>T (p.Asp1222=)
|
rs1573138492
|
0.00001
|
NM_004082.5(DCTN1):c.3712C>G (p.Gln1238Glu)
|
rs778307537
|
0.00001
|
NM_004082.5(DCTN1):c.3718G>T (p.Asp1240Tyr)
|
rs748860016
|
0.00001
|
NM_004082.5(DCTN1):c.373A>G (p.Thr125Ala)
|
rs745657856
|
0.00001
|
NM_004082.5(DCTN1):c.3742G>A (p.Val1248Met)
|
rs752784218
|
0.00001
|
NM_004082.5(DCTN1):c.3755G>A (p.Cys1252Tyr)
|
rs773727370
|
0.00001
|
NM_004082.5(DCTN1):c.3759G>A (p.Ala1253=)
|
rs886056328
|
0.00001
|
NM_004082.5(DCTN1):c.3760G>T (p.Ala1254Ser)
|
rs772655253
|
0.00001
|
NM_004082.5(DCTN1):c.3781C>T (p.Arg1261Trp)
|
rs768025820
|
0.00001
|
NM_004082.5(DCTN1):c.3823C>T (p.Arg1275Cys)
|
rs766653950
|
0.00001
|
NM_004082.5(DCTN1):c.384T>C (p.Thr128=)
|
rs751553167
|
0.00001
|
NM_004082.5(DCTN1):c.396G>C (p.Arg132=)
|
rs1335450210
|
0.00001
|
NM_004082.5(DCTN1):c.414+6G>A
|
rs767853891
|
0.00001
|
NM_004082.5(DCTN1):c.426C>T (p.Ala142=)
|
rs766656845
|
0.00001
|
NM_004082.5(DCTN1):c.427C>T (p.Arg143Ter)
|
rs781290307
|
0.00001
|
NM_004082.5(DCTN1):c.42C>T (p.Ser14=)
|
rs535554555
|
0.00001
|
NM_004082.5(DCTN1):c.43G>A (p.Gly15Ser)
|
rs72466482
|
0.00001
|
NM_004082.5(DCTN1):c.443G>A (p.Arg148Gln)
|
rs1359633006
|
0.00001
|
NM_004082.5(DCTN1):c.458C>T (p.Thr153Met)
|
rs1052858105
|
0.00001
|
NM_004082.5(DCTN1):c.459G>A (p.Thr153=)
|
rs773422770
|
0.00001
|
NM_004082.5(DCTN1):c.461G>A (p.Arg154His)
|
rs1398619239
|
0.00001
|
NM_004082.5(DCTN1):c.521C>T (p.Ser174Leu)
|
rs1064797035
|
0.00001
|
NM_004082.5(DCTN1):c.557C>T (p.Pro186Leu)
|
rs916359967
|
0.00001
|
NM_004082.5(DCTN1):c.569C>T (p.Pro190Leu)
|
rs765192491
|
0.00001
|
NM_004082.5(DCTN1):c.585C>T (p.Ile195=)
|
rs1016485773
|
0.00001
|
NM_004082.5(DCTN1):c.59C>T (p.Ala20Val)
|
rs773420384
|
0.00001
|
NM_004082.5(DCTN1):c.623C>T (p.Pro208Leu)
|
rs1461654392
|
0.00001
|
NM_004082.5(DCTN1):c.645+10G>C
|
rs776017204
|
0.00001
|
NM_004082.5(DCTN1):c.646-15G>A
|
rs201438504
|
0.00001
|
NM_004082.5(DCTN1):c.674G>A (p.Arg225Gln)
|
rs1411382364
|
0.00001
|
NM_004082.5(DCTN1):c.676G>A (p.Asp226Asn)
|
rs539287431
|
0.00001
|
NM_004082.5(DCTN1):c.702G>T (p.Leu234=)
|
rs758500443
|
0.00001
|
NM_004082.5(DCTN1):c.759C>T (p.Ile253=)
|
rs1553465355
|
0.00001
|
NM_004082.5(DCTN1):c.81G>A (p.Leu27=)
|
rs780626071
|
0.00001
|
NM_004082.5(DCTN1):c.821G>A (p.Arg274Gln)
|
rs1379544377
|
0.00001
|
NM_004082.5(DCTN1):c.823C>T (p.Arg275Cys)
|
rs775294408
|
0.00001
|
NM_004082.5(DCTN1):c.843+5G>T
|
rs757238618
|
0.00001
|
NM_004082.5(DCTN1):c.843+9C>T
|
rs1031141306
|
0.00001
|
NM_004082.5(DCTN1):c.844-5C>G
|
rs1435999777
|
0.00001
|
NM_004082.5(DCTN1):c.864G>C (p.Glu288Asp)
|
rs1042083899
|
0.00001
|
NM_004082.5(DCTN1):c.90C>T (p.Gly30=)
|
rs932576887
|
0.00001
|
NM_004082.5(DCTN1):c.94C>T (p.Arg32Cys)
|
rs751177222
|
0.00001
|
NM_004181.5(UCHL1):c.-25T>C
|
rs1780982671
|
0.00001
|
NM_004181.5(UCHL1):c.175-4G>A
|
rs778240876
|
0.00001
|
NM_004181.5(UCHL1):c.527-3C>T
|
rs749663332
|
0.00001
|
NM_004562.3(PRKN):c.*1383T>C
|
rs1289507934
|
0.00001
|
NM_004562.3(PRKN):c.*1576C>T
|
rs1401264418
|
0.00001
|
NM_004562.3(PRKN):c.*2232G>A
|
rs541135564
|
0.00001
|
NM_004562.3(PRKN):c.*2259T>C
|
rs1163661606
|
0.00001
|
NM_004562.3(PRKN):c.*623T>C
|
rs530999210
|
0.00001
|
NM_004562.3(PRKN):c.*722G>A
|
rs1784435392
|
0.00001
|
NM_004562.3(PRKN):c.-57G>C
|
rs750626864
|
0.00001
|
NM_004562.3(PRKN):c.1288G>A (p.Gly430Ser)
|
rs1226997153
|
0.00001
|
NM_004562.3(PRKN):c.1366G>A (p.Val456Ile)
|
rs755627153
|
0.00001
|
NM_004562.3(PRKN):c.1A>G (p.Met1Val)
|
rs772786691
|
0.00001
|
NM_004562.3(PRKN):c.310C>T (p.Arg104Trp)
|
rs769099303
|
0.00001
|
NM_004562.3(PRKN):c.551A>T (p.Asp184Val)
|
rs142383136
|
0.00001
|
NM_004562.3(PRKN):c.635G>A (p.Cys212Tyr)
|
rs137853058
|
0.00001
|
NM_004562.3(PRKN):c.706A>G (p.Ile236Val)
|
rs886061238
|
0.00001
|
NM_004562.3(PRKN):c.850G>C (p.Gly284Arg)
|
rs751037529
|
0.00001
|
NM_004562.3(PRKN):c.904C>T (p.His302Tyr)
|
rs755749488
|
0.00001
|
NM_004562.3(PRKN):c.987C>T (p.Gly329=)
|
rs768652293
|
0.00001
|
NM_004736.4(XPR1):c.1954G>A (p.Val652Ile)
|
rs748681314
|
0.00001
|
NM_006186.4(NR4A2):c.*1017T>C
|
rs986511917
|
0.00001
|
NM_006186.4(NR4A2):c.*599T>G
|
rs1268567400
|
0.00001
|
NM_006186.4(NR4A2):c.-253C>T
|
rs1242736877
|
0.00001
|
NM_006186.4(NR4A2):c.-304C>T
|
rs1003135527
|
0.00001
|
NM_006186.4(NR4A2):c.1230G>A (p.Leu410=)
|
rs139491338
|
0.00001
|
NM_006186.4(NR4A2):c.1273C>T (p.Pro425Ser)
|
rs371624401
|
0.00001
|
NM_006186.4(NR4A2):c.1548C>T (p.His516=)
|
rs1343095735
|
0.00001
|
NM_006186.4(NR4A2):c.325C>G (p.Gln109Glu)
|
rs747551776
|
0.00001
|
NM_006186.4(NR4A2):c.372C>T (p.Pro124=)
|
rs943205037
|
0.00001
|
NM_007262.5(PARK7):c.*49A>G
|
rs371482698
|
0.00001
|
NM_007262.5(PARK7):c.16G>T (p.Ala6Ser)
|
rs767539467
|
0.00001
|
NM_007262.5(PARK7):c.192G>C (p.Glu64Asp)
|
rs74315353
|
0.00001
|
NM_007262.5(PARK7):c.198A>G (p.Pro66=)
|
rs201258798
|
0.00001
|
NM_007262.5(PARK7):c.28C>G (p.Leu10Val)
|
rs1309873819
|
0.00001
|
NM_007262.5(PARK7):c.395A>G (p.Lys132Arg)
|
rs1640614977
|
0.00001
|
NM_007262.5(PARK7):c.437T>G (p.Val146Gly)
|
rs761919138
|
0.00001
|
NM_007262.5(PARK7):c.460A>G (p.Thr154Ala)
|
rs1472900688
|
0.00001
|
NM_007262.5(PARK7):c.59T>C (p.Val20Ala)
|
rs370430693
|
0.00001
|
NM_007262.5(PARK7):c.91-11C>T
|
rs1306465390
|
0.00001
|
NM_012179.4(FBXO7):c.*198T>G
|
rs951733600
|
0.00001
|
NM_012179.4(FBXO7):c.*263A>G
|
rs886057422
|
0.00001
|
NM_012179.4(FBXO7):c.*282A>T
|
rs886057423
|
0.00001
|
NM_012179.4(FBXO7):c.-130C>T
|
rs1399012413
|
0.00001
|
NM_012179.4(FBXO7):c.1009T>C (p.Leu337=)
|
rs754811367
|
0.00001
|
NM_012179.4(FBXO7):c.1089T>C (p.Phe363=)
|
rs1250777790
|
0.00001
|
NM_012179.4(FBXO7):c.1145-8C>T
|
rs751528878
|
0.00001
|
NM_012179.4(FBXO7):c.114G>C (p.Trp38Cys)
|
rs1315592404
|
0.00001
|
NM_012179.4(FBXO7):c.1183-15T>G
|
rs534389109
|
0.00001
|
NM_012179.4(FBXO7):c.1183-4del
|
rs1399849415
|
0.00001
|
NM_012179.4(FBXO7):c.1213G>T (p.Glu405Ter)
|
rs1342038737
|
0.00001
|
NM_012179.4(FBXO7):c.1388C>T (p.Ser463Leu)
|
rs1182785309
|
0.00001
|
NM_012179.4(FBXO7):c.1497C>T (p.Gly499=)
|
rs373124830
|
0.00001
|
NM_012179.4(FBXO7):c.1527C>A (p.Pro509=)
|
rs758609287
|
0.00001
|
NM_012179.4(FBXO7):c.32C>T (p.Thr11Ile)
|
rs1233525301
|
0.00001
|
NM_012179.4(FBXO7):c.358C>T (p.Pro120Ser)
|
rs191469599
|
0.00001
|
NM_012179.4(FBXO7):c.418-7T>C
|
rs1191875613
|
0.00001
|
NM_012179.4(FBXO7):c.447G>A (p.Glu149=)
|
rs1012166328
|
0.00001
|
NM_012179.4(FBXO7):c.521C>T (p.Ser174Leu)
|
rs376455464
|
0.00001
|
NM_012179.4(FBXO7):c.522G>A (p.Ser174=)
|
rs772581980
|
0.00001
|
NM_012179.4(FBXO7):c.571G>C (p.Asp191His)
|
rs1021814487
|
0.00001
|
NM_012179.4(FBXO7):c.646-9G>A
|
rs1205866315
|
0.00001
|
NM_012179.4(FBXO7):c.745A>G (p.Thr249Ala)
|
rs749742547
|
0.00001
|
NM_013247.4(HTRA2):c.-136C>T
|
rs886056343
|
0.00001
|
NM_013247.4(HTRA2):c.-146G>A
|
rs569404179
|
0.00001
|
NM_013247.4(HTRA2):c.-236G>C
|
rs886056341
|
0.00001
|
NM_013247.5(HTRA2):c.*249G>C
|
rs775428682
|
0.00001
|
NM_013247.5(HTRA2):c.427C>G (p.Pro143Ala)
|
rs387906942
|
0.00001
|
NM_013247.5(HTRA2):c.937C>T (p.Leu313=)
|
rs766035905
|
0.00001
|
NM_018206.6(VPS35):c.*354G>C
|
rs572048744
|
0.00001
|
NM_018206.6(VPS35):c.1262T>A (p.Phe421Tyr)
|
rs375087873
|
0.00001
|
NM_018206.6(VPS35):c.1290C>T (p.Tyr430=)
|
rs368876504
|
0.00001
|
NM_018206.6(VPS35):c.1313G>A (p.Cys438Tyr)
|
rs745893720
|
0.00001
|
NM_018206.6(VPS35):c.1369-9A>G
|
rs762973568
|
0.00001
|
NM_018206.6(VPS35):c.1371G>A (p.Val457=)
|
rs1009455831
|
0.00001
|
NM_018206.6(VPS35):c.1488T>C (p.His496=)
|
rs776877370
|
0.00001
|
NM_018206.6(VPS35):c.1520A>T (p.Tyr507Phe)
|
rs1555465749
|
0.00001
|
NM_018206.6(VPS35):c.1557T>C (p.Ala519=)
|
rs1463376876
|
0.00001
|
NM_018206.6(VPS35):c.1570C>T (p.Arg524Trp)
|
rs184277092
|
0.00001
|
NM_018206.6(VPS35):c.1679T>C (p.Ile560Thr)
|
rs760128592
|
0.00001
|
NM_018206.6(VPS35):c.171G>A (p.Met57Ile)
|
rs183554824
|
0.00001
|
NM_018206.6(VPS35):c.1895T>C (p.Ile632Thr)
|
rs756550058
|
0.00001
|
NM_018206.6(VPS35):c.2049G>A (p.Thr683=)
|
rs757523799
|
0.00001
|
NM_018206.6(VPS35):c.2068-18C>G
|
rs369864421
|
0.00001
|
NM_018206.6(VPS35):c.2073C>T (p.His691=)
|
rs542139125
|
0.00001
|
NM_018206.6(VPS35):c.2074G>A (p.Gly692Arg)
|
rs1247681468
|
0.00001
|
NM_018206.6(VPS35):c.2122A>C (p.Asn708His)
|
rs199940967
|
0.00001
|
NM_018206.6(VPS35):c.2211+11T>C
|
rs375273548
|
0.00001
|
NM_018713.3(SLC30A10):c.*1188T>C
|
rs535541750
|
0.00001
|
NM_018713.3(SLC30A10):c.*452T>G
|
rs1230409448
|
0.00001
|
NM_018713.3(SLC30A10):c.-20C>A
|
rs886046003
|
0.00001
|
NM_018713.3(SLC30A10):c.440G>C (p.Gly147Ala)
|
rs886046002
|
0.00001
|
NM_018713.3(SLC30A10):c.482G>T (p.Gly161Val)
|
rs1441035788
|
0.00001
|
NM_018713.3(SLC30A10):c.66C>G (p.Phe22Leu)
|
rs747984224
|
0.00001
|
NM_018713.3(SLC30A10):c.76C>G (p.Leu26Val)
|
rs774149422
|
0.00001
|
NM_020702.5(MYORG):c.1865T>C (p.Leu622Pro)
|
rs1239594469
|
0.00001
|
NM_020702.5(MYORG):c.225G>A (p.Trp75Ter)
|
rs760451348
|
0.00001
|
NM_020702.5(MYORG):c.747G>C (p.Trp249Cys)
|
rs1356560096
|
0.00001
|
NM_020821.3(VPS13C):c.8806C>T (p.Arg2936Ter)
|
rs148074630
|
0.00001
|
NM_020821.3(VPS13C):c.9020G>A (p.Arg3007Gln)
|
rs778287890
|
0.00001
|
NM_021219.4(JAM2):c.395-1dup
|
rs751103286
|
0.00001
|
NM_022089.4(ATP13A2):c.*182C>T
|
rs970274162
|
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.1065G>A (p.Thr355=)
|
rs750819290
|
0.00001
|
NM_022089.4(ATP13A2):c.1102A>G (p.Thr368Ala)
|
rs1236275703
|
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.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.2440G>A (p.Val814Met)
|
rs748454159
|
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.2770C>T (p.Arg924Cys)
|
rs567866687
|
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.515G>A (p.Arg172His)
|
rs776601823
|
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_025243.4(SLC19A3):c.*1059C>G
|
rs886055756
|
0.00001
|
NM_025243.4(SLC19A3):c.*106A>G
|
rs886055762
|
0.00001
|
NM_025243.4(SLC19A3):c.*289A>G
|
rs1695043276
|
0.00001
|
NM_025243.4(SLC19A3):c.100T>G (p.Phe34Val)
|
rs201603239
|
0.00001
|
NM_025243.4(SLC19A3):c.1070C>T (p.Ala357Val)
|
rs778139709
|
0.00001
|
NM_025243.4(SLC19A3):c.1071C>T (p.Ala357=)
|
rs957778131
|
0.00001
|
NM_025243.4(SLC19A3):c.1099G>A (p.Ala367Thr)
|
rs1233252115
|
0.00001
|
NM_025243.4(SLC19A3):c.10T>A (p.Tyr4Asn)
|
rs1319391961
|
0.00001
|
NM_025243.4(SLC19A3):c.1104T>C (p.Asn368=)
|
rs767338710
|
0.00001
|
NM_025243.4(SLC19A3):c.1118A>G (p.Tyr373Cys)
|
rs1131691470
|
0.00001
|
NM_025243.4(SLC19A3):c.111del (p.Tyr38fs)
|
rs1559252723
|
0.00001
|
NM_025243.4(SLC19A3):c.1137C>T (p.Phe379=)
|
rs1465499049
|
0.00001
|
NM_025243.4(SLC19A3):c.1140G>A (p.Lys380=)
|
rs769558150
|
0.00001
|
NM_025243.4(SLC19A3):c.1143C>T (p.Ser381=)
|
rs745347172
|
0.00001
|
NM_025243.4(SLC19A3):c.1154T>C (p.Leu385Pro)
|
rs563607795
|
0.00001
|
NM_025243.4(SLC19A3):c.1172+1G>A
|
rs1219632810
|
0.00001
|
NM_025243.4(SLC19A3):c.1183G>T (p.Ala395Ser)
|
rs747446540
|
0.00001
|
NM_025243.4(SLC19A3):c.1215G>T (p.Leu405Phe)
|
rs755120020
|
0.00001
|
NM_025243.4(SLC19A3):c.1245G>A (p.Leu415=)
|
rs1213616391
|
0.00001
|
NM_025243.4(SLC19A3):c.1252C>G (p.Gln418Glu)
|
rs368364131
|
0.00001
|
NM_025243.4(SLC19A3):c.127G>A (p.Asp43Asn)
|
rs773678018
|
0.00001
|
NM_025243.4(SLC19A3):c.1280A>G (p.Asp427Gly)
|
rs1287180895
|
0.00001
|
NM_025243.4(SLC19A3):c.1314+1G>A
|
rs141957107
|
0.00001
|
NM_025243.4(SLC19A3):c.1315-4C>A
|
rs758218592
|
0.00001
|
NM_025243.4(SLC19A3):c.1382C>A (p.Thr461Asn)
|
rs1695061518
|
0.00001
|
NM_025243.4(SLC19A3):c.1383C>T (p.Thr461=)
|
rs770099619
|
0.00001
|
NM_025243.4(SLC19A3):c.1406A>T (p.Asp469Val)
|
rs1373661310
|
0.00001
|
NM_025243.4(SLC19A3):c.1409T>G (p.Val470Gly)
|
rs1049927448
|
0.00001
|
NM_025243.4(SLC19A3):c.1412A>G (p.Gln471Arg)
|
rs1201780335
|
0.00001
|
NM_025243.4(SLC19A3):c.1439A>G (p.Asp480Gly)
|
rs754918776
|
0.00001
|
NM_025243.4(SLC19A3):c.1457A>G (p.Glu486Gly)
|
rs1338153783
|
0.00001
|
NM_025243.4(SLC19A3):c.1461G>A (p.Glu487=)
|
rs750094260
|
0.00001
|
NM_025243.4(SLC19A3):c.1463G>C (p.Ser488Thr)
|
rs540774490
|
0.00001
|
NM_025243.4(SLC19A3):c.1467T>C (p.Asn489=)
|
rs761383691
|
0.00001
|
NM_025243.4(SLC19A3):c.151-5T>G
|
rs757762751
|
0.00001
|
NM_025243.4(SLC19A3):c.151A>G (p.Ile51Val)
|
rs764398318
|
0.00001
|
NM_025243.4(SLC19A3):c.168C>A (p.Phe56Leu)
|
rs769102876
|
0.00001
|
NM_025243.4(SLC19A3):c.193G>C (p.Val65Leu)
|
rs1695591331
|
0.00001
|
NM_025243.4(SLC19A3):c.222C>T (p.Thr74=)
|
rs1311796221
|
0.00001
|
NM_025243.4(SLC19A3):c.225T>C (p.Asp75=)
|
rs886044447
|
0.00001
|
NM_025243.4(SLC19A3):c.232C>T (p.Arg78Cys)
|
rs1329744665
|
0.00001
|
NM_025243.4(SLC19A3):c.242C>T (p.Pro81Leu)
|
rs752029795
|
0.00001
|
NM_025243.4(SLC19A3):c.26G>A (p.Ser9Asn)
|
rs1373557684
|
0.00001
|
NM_025243.4(SLC19A3):c.291G>C (p.Leu97=)
|
rs774166957
|
0.00001
|
NM_025243.4(SLC19A3):c.316A>G (p.Met106Val)
|
rs769548199
|
0.00001
|
NM_025243.4(SLC19A3):c.327A>G (p.Val109=)
|
rs961855863
|
0.00001
|
NM_025243.4(SLC19A3):c.351C>T (p.Thr117=)
|
rs754025610
|
0.00001
|
NM_025243.4(SLC19A3):c.355G>A (p.Ala119Thr)
|
rs367620430
|
0.00001
|
NM_025243.4(SLC19A3):c.383A>G (p.Tyr128Cys)
|
rs770685804
|
0.00001
|
NM_025243.4(SLC19A3):c.412A>G (p.Arg138Gly)
|
rs201318094
|
0.00001
|
NM_025243.4(SLC19A3):c.447C>G (p.Ala149=)
|
rs1574559863
|
0.00001
|
NM_025243.4(SLC19A3):c.461G>A (p.Gly154Glu)
|
rs202145913
|
0.00001
|
NM_025243.4(SLC19A3):c.484G>A (p.Val162Ile)
|
rs1468039885
|
0.00001
|
NM_025243.4(SLC19A3):c.4G>A (p.Asp2Asn)
|
rs747378211
|
0.00001
|
NM_025243.4(SLC19A3):c.518A>G (p.Asn173Ser)
|
rs1279277694
|
0.00001
|
NM_025243.4(SLC19A3):c.519C>T (p.Asn173=)
|
rs765070607
|
0.00001
|
NM_025243.4(SLC19A3):c.532G>A (p.Ala178Thr)
|
rs766950682
|
0.00001
|
NM_025243.4(SLC19A3):c.544G>A (p.Val182Met)
|
rs758707665
|
0.00001
|
NM_025243.4(SLC19A3):c.551T>C (p.Phe184Ser)
|
rs1329180844
|
0.00001
|
NM_025243.4(SLC19A3):c.587G>A (p.Ser196Asn)
|
rs892057479
|
0.00001
|
NM_025243.4(SLC19A3):c.591G>A (p.Met197Ile)
|
rs1035879074
|
0.00001
|
NM_025243.4(SLC19A3):c.611G>A (p.Ser204Asn)
|
rs773705000
|
0.00001
|
NM_025243.4(SLC19A3):c.670G>A (p.Glu224Lys)
|
rs756104687
|
0.00001
|
NM_025243.4(SLC19A3):c.697C>G (p.Pro233Ala)
|
rs756864477
|
0.00001
|
NM_025243.4(SLC19A3):c.737A>C (p.Lys246Thr)
|
rs548559478
|
0.00001
|
NM_025243.4(SLC19A3):c.738G>C (p.Lys246Asn)
|
rs369214674
|
0.00001
|
NM_025243.4(SLC19A3):c.825A>C (p.Ser275=)
|
rs757058630
|
0.00001
|
NM_025243.4(SLC19A3):c.835T>C (p.Phe279Leu)
|
rs377709852
|
0.00001
|
NM_025243.4(SLC19A3):c.850T>C (p.Trp284Arg)
|
rs1553571227
|
0.00001
|
NM_025243.4(SLC19A3):c.855G>A (p.Trp285Ter)
|
rs1695551164
|
0.00001
|
NM_025243.4(SLC19A3):c.861C>T (p.Phe287=)
|
rs764867524
|
0.00001
|
NM_025243.4(SLC19A3):c.862G>A (p.Ala288Thr)
|
rs542566978
|
0.00001
|
NM_025243.4(SLC19A3):c.869C>T (p.Ala290Val)
|
rs1289482106
|
0.00001
|
NM_025243.4(SLC19A3):c.893A>G (p.Tyr298Cys)
|
rs370104837
|
0.00001
|
NM_025243.4(SLC19A3):c.917A>G (p.Lys306Arg)
|
rs1453716517
|
0.00001
|
NM_025243.4(SLC19A3):c.924A>G (p.Pro308=)
|
rs1251453438
|
0.00001
|
NM_025243.4(SLC19A3):c.955G>A (p.Val319Ile)
|
rs372511010
|
0.00001
|
NM_025243.4(SLC19A3):c.972C>A (p.Thr324=)
|
rs1695542867
|
0.00001
|
NM_025243.4(SLC19A3):c.979+15C>T
|
rs753469461
|
0.00001
|
NM_025243.4(SLC19A3):c.980-8T>C
|
rs1202536336
|
0.00001
|
NM_025243.4(SLC19A3):c.998C>T (p.Ala333Val)
|
rs773023992
|
0.00001
|
NM_025243.4(SLC19A3):c.999A>G (p.Ala333=)
|
rs772110523
|
0.00001
|
NM_032409.3(PINK1):c.*340C>T
|
rs1469982205
|
0.00001
|
NM_032409.3(PINK1):c.101C>G (p.Pro34Arg)
|
rs1006830855
|
0.00001
|
NM_032409.3(PINK1):c.1095C>T (p.Ser365=)
|
rs559921009
|
0.00001
|
NM_032409.3(PINK1):c.1123+19A>G
|
rs762129771
|
0.00001
|
NM_032409.3(PINK1):c.1123+4G>C
|
rs760845466
|
0.00001
|
NM_032409.3(PINK1):c.1125C>T (p.Asp375=)
|
rs531300037
|
0.00001
|
NM_032409.3(PINK1):c.116G>T (p.Gly39Val)
|
rs2053015980
|
0.00001
|
NM_032409.3(PINK1):c.1194G>A (p.Leu398=)
|
rs1214490830
|
0.00001
|
NM_032409.3(PINK1):c.1196C>T (p.Pro399Leu)
|
rs119451946
|
0.00001
|
NM_032409.3(PINK1):c.124C>T (p.Arg42Cys)
|
rs1255530845
|
0.00001
|
NM_032409.3(PINK1):c.1251+19A>G
|
rs758065542
|
0.00001
|
NM_032409.3(PINK1):c.1251+5G>A
|
rs756873744
|
0.00001
|
NM_032409.3(PINK1):c.1311G>A (p.Trp437Ter)
|
rs74315356
|
0.00001
|
NM_032409.3(PINK1):c.13C>T (p.Gln5Ter)
|
rs1005937012
|
0.00001
|
NM_032409.3(PINK1):c.141C>G (p.Gly47=)
|
rs1167601739
|
0.00001
|
NM_032409.3(PINK1):c.1442A>T (p.Asp481Val)
|
rs376829940
|
0.00001
|
NM_032409.3(PINK1):c.1481C>T (p.Ala494Val)
|
rs542258150
|
0.00001
|
NM_032409.3(PINK1):c.1488+1G>A
|
rs2053233432
|
0.00001
|
NM_032409.3(PINK1):c.1530C>T (p.Ser510=)
|
rs367949045
|
0.00001
|
NM_032409.3(PINK1):c.1573G>A (p.Asp525Asn)
|
rs531477772
|
0.00001
|
NM_032409.3(PINK1):c.1578G>C (p.Lys526Asn)
|
rs886045848
|
0.00001
|
NM_032409.3(PINK1):c.1579A>G (p.Met527Val)
|
rs779798626
|
0.00001
|
NM_032409.3(PINK1):c.1606G>T (p.Ala536Ser)
|
rs1265322947
|
0.00001
|
NM_032409.3(PINK1):c.161C>A (p.Ala54Glu)
|
rs867771554
|
0.00001
|
NM_032409.3(PINK1):c.1689G>A (p.Glu563=)
|
rs752317048
|
0.00001
|
NM_032409.3(PINK1):c.1698G>A (p.Thr566=)
|
rs777232150
|
0.00001
|
NM_032409.3(PINK1):c.1729T>C (p.Trp577Arg)
|
rs747133533
|
0.00001
|
NM_032409.3(PINK1):c.273del (p.Cys92fs)
|
rs755000580
|
0.00001
|
NM_032409.3(PINK1):c.322del (p.Leu108fs)
|
rs1557559393
|
0.00001
|
NM_032409.3(PINK1):c.371C>T (p.Ala124Val)
|
rs1274588239
|
0.00001
|
NM_032409.3(PINK1):c.388-10C>G
|
rs763983499
|
0.00001
|
NM_032409.3(PINK1):c.417G>T (p.Gly139=)
|
rs749670160
|
0.00001
|
NM_032409.3(PINK1):c.435G>A (p.Thr145=)
|
rs370346526
|
0.00001
|
NM_032409.3(PINK1):c.449G>A (p.Gly150Asp)
|
rs2053073251
|
0.00001
|
NM_032409.3(PINK1):c.454C>T (p.Arg152Trp)
|
rs45608139
|
0.00001
|
NM_032409.3(PINK1):c.488G>A (p.Gly163Asp)
|
rs1252036117
|
0.00001
|
NM_032409.3(PINK1):c.537C>T (p.Pro179=)
|
rs773064713
|
0.00001
|
NM_032409.3(PINK1):c.546G>A (p.Leu182=)
|
rs751763774
|
0.00001
|
NM_032409.3(PINK1):c.690C>T (p.Ser230=)
|
rs367947092
|
0.00001
|
NM_032409.3(PINK1):c.805G>A (p.Ala269Thr)
|
rs2053151793
|
0.00001
|
NM_032409.3(PINK1):c.826C>T (p.Arg276Trp)
|
rs778009684
|
0.00001
|
NM_032409.3(PINK1):c.887C>T (p.Pro296Leu)
|
rs779060308
|
0.00001
|
NM_032409.3(PINK1):c.938C>T (p.Thr313Met)
|
rs74315359
|
0.00001
|
NM_032409.3(PINK1):c.960-17T>C
|
rs768609926
|
0.00001
|
NM_058246.4(DNAJB6):c.577A>G (p.Thr193Ala)
|
rs770053224
|
0.00001
|
NM_152296.5(ATP1A3):c.1027C>T (p.Arg343Trp)
|
rs782423325
|
0.00001
|
NM_152296.5(ATP1A3):c.1051C>T (p.Leu351=)
|
rs782341271
|
0.00001
|
NM_152296.5(ATP1A3):c.1080G>A (p.Thr360=)
|
rs370511776
|
0.00001
|
NM_152296.5(ATP1A3):c.1110C>G (p.Thr370=)
|
rs1555863662
|
0.00001
|
NM_152296.5(ATP1A3):c.1164C>T (p.His388=)
|
rs201446077
|
0.00001
|
NM_152296.5(ATP1A3):c.1193-5C>T
|
rs782633348
|
0.00001
|
NM_152296.5(ATP1A3):c.1197C>T (p.Thr399=)
|
rs781903799
|
0.00001
|
NM_152296.5(ATP1A3):c.1206C>T (p.Asp402=)
|
rs572012327
|
0.00001
|
NM_152296.5(ATP1A3):c.1218C>T (p.His406=)
|
rs1238469762
|
0.00001
|
NM_152296.5(ATP1A3):c.1258C>T (p.Arg420Cys)
|
rs1318364500
|
0.00001
|
NM_152296.5(ATP1A3):c.1261G>A (p.Ala421Thr)
|
rs782154735
|
0.00001
|
NM_152296.5(ATP1A3):c.128G>A (p.Arg43Gln)
|
rs782453913
|
0.00001
|
NM_152296.5(ATP1A3):c.1303-15C>A
|
rs782749835
|
0.00001
|
NM_152296.5(ATP1A3):c.1312G>A (p.Ala438Thr)
|
rs782711218
|
0.00001
|
NM_152296.5(ATP1A3):c.1333G>T (p.Ala445Ser)
|
rs1555863376
|
0.00001
|
NM_152296.5(ATP1A3):c.1344G>A (p.Lys448=)
|
rs149547406
|
0.00001
|
NM_152296.5(ATP1A3):c.1350C>T (p.Ile450=)
|
rs559103129
|
0.00001
|
NM_152296.5(ATP1A3):c.1388G>A (p.Arg463His)
|
rs782499746
|
0.00001
|
NM_152296.5(ATP1A3):c.1437+16C>T
|
rs369870482
|
0.00001
|
NM_152296.5(ATP1A3):c.1455C>T (p.Thr485=)
|
rs372153087
|
0.00001
|
NM_152296.5(ATP1A3):c.1472A>G (p.Asn491Ser)
|
rs782775696
|
0.00001
|
NM_152296.5(ATP1A3):c.1474C>G (p.Arg492Gly)
|
rs1254049182
|
0.00001
|
NM_152296.5(ATP1A3):c.1519C>T (p.Arg507Cys)
|
rs749776123
|
0.00001
|
NM_152296.5(ATP1A3):c.153+7C>T
|
rs782082118
|
0.00001
|
NM_152296.5(ATP1A3):c.154-20G>T
|
rs782526131
|
0.00001
|
NM_152296.5(ATP1A3):c.1563C>A (p.Asp521Glu)
|
rs368551273
|
0.00001
|
NM_152296.5(ATP1A3):c.1631-12C>T
|
rs1555862173
|
0.00001
|
NM_152296.5(ATP1A3):c.1654G>C (p.Glu552Gln)
|
rs367904817
|
0.00001
|
NM_152296.5(ATP1A3):c.165C>T (p.His55=)
|
rs781881410
|
0.00001
|
NM_152296.5(ATP1A3):c.1683C>T (p.Phe561=)
|
rs781866390
|
0.00001
|
NM_152296.5(ATP1A3):c.1698G>A (p.Val566=)
|
rs2075193265
|
0.00001
|
NM_152296.5(ATP1A3):c.1705A>G (p.Thr569Ala)
|
rs1555862136
|
0.00001
|
NM_152296.5(ATP1A3):c.1707C>A (p.Thr569=)
|
rs782081809
|
0.00001
|
NM_152296.5(ATP1A3):c.1710G>A (p.Thr570=)
|
rs781840505
|
0.00001
|
NM_152296.5(ATP1A3):c.1746C>T (p.Ile582=)
|
rs781992944
|
0.00001
|
NM_152296.5(ATP1A3):c.1758G>C (p.Arg586=)
|
rs977103188
|
0.00001
|
NM_152296.5(ATP1A3):c.1794C>T (p.Ser598=)
|
rs782409824
|
0.00001
|
NM_152296.5(ATP1A3):c.1806+10G>A
|
rs782300402
|
0.00001
|
NM_152296.5(ATP1A3):c.1806+12G>A
|
rs1555862070
|
0.00001
|
NM_152296.5(ATP1A3):c.1807-14A>C
|
rs1477588682
|
0.00001
|
NM_152296.5(ATP1A3):c.1839G>A (p.Thr613=)
|
rs376852509
|
0.00001
|
NM_152296.5(ATP1A3):c.1905C>T (p.Ala635=)
|
rs781822752
|
0.00001
|
NM_152296.5(ATP1A3):c.1906G>A (p.Ala636Thr)
|
rs782744167
|
0.00001
|
NM_152296.5(ATP1A3):c.190C>T (p.Arg64Trp)
|
rs1203339638
|
0.00001
|
NM_152296.5(ATP1A3):c.1930C>G (p.Gln644Glu)
|
rs1555861946
|
0.00001
|
NM_152296.5(ATP1A3):c.1942C>T (p.Arg648Trp)
|
rs1555861935
|
0.00001
|
NM_152296.5(ATP1A3):c.1944-19C>A
|
rs1555861379
|
0.00001
|
NM_152296.5(ATP1A3):c.1973C>T (p.Thr658Ile)
|
rs1241113172
|
0.00001
|
NM_152296.5(ATP1A3):c.2007C>T (p.Asp669=)
|
rs782626986
|
0.00001
|
NM_152296.5(ATP1A3):c.2009A>G (p.Glu670Gly)
|
rs2075172328
|
0.00001
|
NM_152296.5(ATP1A3):c.201T>C (p.Pro67=)
|
rs782752541
|
0.00001
|
NM_152296.5(ATP1A3):c.2025C>T (p.His675=)
|
rs1394039204
|
0.00001
|
NM_152296.5(ATP1A3):c.2028C>T (p.Thr676=)
|
rs782556831
|
0.00001
|
NM_152296.5(ATP1A3):c.2052C>T (p.Ser684=)
|
rs1461401586
|
0.00001
|
NM_152296.5(ATP1A3):c.2095-6C>T
|
rs1555860861
|
0.00001
|
NM_152296.5(ATP1A3):c.2130C>T (p.Asn710=)
|
rs1394454178
|
0.00001
|
NM_152296.5(ATP1A3):c.2171T>C (p.Met724Thr)
|
rs1329568831
|
0.00001
|
NM_152296.5(ATP1A3):c.219G>A (p.Pro73=)
|
rs567997976
|
0.00001
|
NM_152296.5(ATP1A3):c.2244C>T (p.Ile748=)
|
rs143307687
|
0.00001
|
NM_152296.5(ATP1A3):c.2263+9G>A
|
rs372897787
|
0.00001
|
NM_152296.5(ATP1A3):c.2307C>T (p.Thr769=)
|
rs886054473
|
0.00001
|
NM_152296.5(ATP1A3):c.2343G>T (p.Leu781=)
|
rs1216939281
|
0.00001
|
NM_152296.5(ATP1A3):c.2400C>T (p.Ile800=)
|
rs782552524
|
0.00001
|
NM_152296.5(ATP1A3):c.2418+9T>A
|
rs950336124
|
0.00001
|
NM_152296.5(ATP1A3):c.2442C>T (p.Tyr814=)
|
rs367659803
|
0.00001
|
NM_152296.5(ATP1A3):c.2445G>A (p.Glu815=)
|
rs781915542
|
0.00001
|
NM_152296.5(ATP1A3):c.2523C>T (p.Ser841=)
|
rs1236093021
|
0.00001
|
NM_152296.5(ATP1A3):c.2532C>T (p.Tyr844=)
|
rs782485793
|
0.00001
|
NM_152296.5(ATP1A3):c.2553G>A (p.Gln851=)
|
rs782151853
|
0.00001
|
NM_152296.5(ATP1A3):c.2688+11C>A
|
rs782430886
|
0.00001
|
NM_152296.5(ATP1A3):c.2694C>T (p.Tyr898=)
|
rs1036805125
|
0.00001
|
NM_152296.5(ATP1A3):c.2703G>A (p.Arg901=)
|
rs1347375704
|
0.00001
|
NM_152296.5(ATP1A3):c.2730G>A (p.Thr910=)
|
rs377758618
|
0.00001
|
NM_152296.5(ATP1A3):c.2748C>T (p.Ile916=)
|
rs782390447
|
0.00001
|
NM_152296.5(ATP1A3):c.274A>G (p.Ile92Val)
|
rs933392084
|
0.00001
|
NM_152296.5(ATP1A3):c.2790G>A (p.Arg930=)
|
rs782317175
|
0.00001
|
NM_152296.5(ATP1A3):c.2819+9C>T
|
rs976302465
|
0.00001
|
NM_152296.5(ATP1A3):c.2859C>T (p.Ala953=)
|
rs1555858949
|
0.00001
|
NM_152296.5(ATP1A3):c.2887G>A (p.Gly963Ser)
|
rs200582951
|
0.00001
|
NM_152296.5(ATP1A3):c.2937C>T (p.Phe979=)
|
rs965301142
|
0.00001
|
NM_152296.5(ATP1A3):c.2943C>T (p.Ala981=)
|
rs1439299124
|
0.00001
|
NM_152296.5(ATP1A3):c.2946C>T (p.Phe982=)
|
rs182309368
|
0.00001
|
NM_152296.5(ATP1A3):c.2968G>A (p.Val990Ile)
|
rs781786336
|
0.00001
|
NM_152296.5(ATP1A3):c.2997G>T (p.Leu999=)
|
rs1172518925
|
0.00001
|
NM_152296.5(ATP1A3):c.3006C>T (p.Asn1002=)
|
rs782086452
|
0.00001
|
NM_152296.5(ATP1A3):c.3013+10C>G
|
rs782023293
|
0.00001
|
NM_152296.5(ATP1A3):c.3014-5T>C
|
rs782325963
|
0.00001
|
NM_152296.5(ATP1A3):c.315C>T (p.Tyr105=)
|
rs782717865
|
0.00001
|
NM_152296.5(ATP1A3):c.333C>T (p.Thr111=)
|
rs782779392
|
0.00001
|
NM_152296.5(ATP1A3):c.339C>T (p.Asp113=)
|
rs1555865976
|
0.00001
|
NM_152296.5(ATP1A3):c.358-6C>T
|
rs1395827738
|
0.00001
|
NM_152296.5(ATP1A3):c.363C>T (p.Tyr121=)
|
rs373180830
|
0.00001
|
NM_152296.5(ATP1A3):c.376C>T (p.Leu126=)
|
rs1167271636
|
0.00001
|
NM_152296.5(ATP1A3):c.381G>A (p.Ala127=)
|
rs782313754
|
0.00001
|
NM_152296.5(ATP1A3):c.384C>G (p.Ala128=)
|
rs782662538
|
0.00001
|
NM_152296.5(ATP1A3):c.399T>A (p.Thr133=)
|
rs782428386
|
0.00001
|
NM_152296.5(ATP1A3):c.468C>G (p.Pro156=)
|
rs1035085048
|
0.00001
|
NM_152296.5(ATP1A3):c.472-10C>T
|
rs1318002472
|
0.00001
|
NM_152296.5(ATP1A3):c.513C>T (p.Asn171=)
|
rs782560151
|
0.00001
|
NM_152296.5(ATP1A3):c.598G>A (p.Gly200Ser)
|
rs1555865238
|
0.00001
|
NM_152296.5(ATP1A3):c.59G>A (p.Arg20Gln)
|
rs949169436
|
0.00001
|
NM_152296.5(ATP1A3):c.6+17C>A
|
rs782567963
|
0.00001
|
NM_152296.5(ATP1A3):c.607-10C>G
|
rs1250683183
|
0.00001
|
NM_152296.5(ATP1A3):c.630C>T (p.Gly210=)
|
rs199906040
|
0.00001
|
NM_152296.5(ATP1A3):c.636C>T (p.Ser212=)
|
rs146476476
|
0.00001
|
NM_152296.5(ATP1A3):c.658G>A (p.Asp220Asn)
|
rs1396898460
|
0.00001
|
NM_152296.5(ATP1A3):c.672C>T (p.Asp224=)
|
rs954153137
|
0.00001
|
NM_152296.5(ATP1A3):c.678C>G (p.Pro226=)
|
rs782427535
|
0.00001
|
NM_152296.5(ATP1A3):c.69T>C (p.Asp23=)
|
rs1178257393
|
0.00001
|
NM_152296.5(ATP1A3):c.7-12G>A
|
rs369150627
|
0.00001
|
NM_152296.5(ATP1A3):c.7-2A>C
|
rs1555866356
|
0.00001
|
NM_152296.5(ATP1A3):c.804G>A (p.Glu268=)
|
rs781831563
|
0.00001
|
NM_152296.5(ATP1A3):c.822C>T (p.Ile274=)
|
rs558011104
|
0.00001
|
NM_152296.5(ATP1A3):c.879T>C (p.Gly293=)
|
rs782184674
|
0.00001
|
NM_152296.5(ATP1A3):c.891C>T (p.Phe297=)
|
rs921400561
|
0.00001
|
NM_152296.5(ATP1A3):c.93+10G>A
|
rs377023306
|
0.00001
|
NM_152296.5(ATP1A3):c.93+9C>T
|
rs369684003
|
0.00001
|
NM_152296.5(ATP1A3):c.936C>A (p.Ile312=)
|
rs782140994
|
0.00001
|
NM_152296.5(ATP1A3):c.945C>T (p.Ile315=)
|
rs782718686
|
0.00001
|
NM_152296.5(ATP1A3):c.994-10C>T
|
rs781783591
|
0.00001
|
NM_171998.4(RAB39B):c.386C>T (p.Thr129Ile)
|
rs1557314226
|
0.00001
|
NM_181575.5(AUP1):c.-19C>T
|
rs886056340
|
0.00001
|
NM_181575.5(AUP1):c.-64C>T
|
rs377647662
|
0.00001
|
NM_181575.5(AUP1):c.25C>T (p.Pro9Ser)
|
rs777371915
|
0.00001
|
NM_181575.5(AUP1):c.51-4C>T
|
rs769713877
|
0.00001
|
NM_198578.4(LRRK2):c.*1095C>T
|
rs1204413722
|
0.00001
|
NM_198578.4(LRRK2):c.*1186C>T
|
rs886049368
|
0.00001
|
NM_198578.4(LRRK2):c.*308A>C
|
rs1946932213
|
0.00001
|
NM_198578.4(LRRK2):c.*497C>T
|
rs775191024
|
0.00001
|
NM_198578.4(LRRK2):c.*615T>A
|
rs201422404
|
0.00001
|
NM_198578.4(LRRK2):c.*721G>T
|
rs886049365
|
0.00001
|
NM_198578.4(LRRK2):c.*84G>A
|
rs201671072
|
0.00001
|
NM_198578.4(LRRK2):c.*971C>A
|
rs200935645
|
0.00001
|
NM_198578.4(LRRK2):c.-44G>A
|
rs765232448
|
0.00001
|
NM_198578.4(LRRK2):c.102G>C (p.Thr34=)
|
rs1179163564
|
0.00001
|
NM_198578.4(LRRK2):c.1096G>A (p.Val366Met)
|
rs113065049
|
0.00001
|
NM_198578.4(LRRK2):c.1182-5G>A
|
rs898586557
|
0.00001
|
NM_198578.4(LRRK2):c.1310T>C (p.Leu437Ser)
|
rs200035812
|
0.00001
|
NM_198578.4(LRRK2):c.158A>G (p.Lys53Arg)
|
rs202157354
|
0.00001
|
NM_198578.4(LRRK2):c.1630A>G (p.Lys544Glu)
|
rs79996249
|
0.00001
|
NM_198578.4(LRRK2):c.1656+6T>C
|
rs1490357320
|
0.00001
|
NM_198578.4(LRRK2):c.1847A>G (p.Lys616Arg)
|
rs281865042
|
0.00001
|
NM_198578.4(LRRK2):c.212A>G (p.Tyr71Cys)
|
rs1442049869
|
0.00001
|
NM_198578.4(LRRK2):c.215T>C (p.Met72Thr)
|
rs750946093
|
0.00001
|
NM_198578.4(LRRK2):c.2204C>A (p.Ala735Asp)
|
rs1943543236
|
0.00001
|
NM_198578.4(LRRK2):c.2333G>A (p.Ser778Asn)
|
rs1356461363
|
0.00001
|
NM_198578.4(LRRK2):c.2382G>T (p.Leu794=)
|
rs1171219491
|
0.00001
|
NM_198578.4(LRRK2):c.2384C>T (p.Ala795Val)
|
rs1402390466
|
0.00001
|
NM_198578.4(LRRK2):c.2443C>A (p.Pro815Thr)
|
rs1484372271
|
0.00001
|
NM_198578.4(LRRK2):c.2579G>A (p.Ser860Asn)
|
rs747546304
|
0.00001
|
NM_198578.4(LRRK2):c.2611A>G (p.Lys871Glu)
|
rs281865044
|
0.00001
|
NM_198578.4(LRRK2):c.2690-14C>A
|
rs1276064023
|
0.00001
|
NM_198578.4(LRRK2):c.2752C>T (p.Arg918Ter)
|
rs957794216
|
0.00001
|
NM_198578.4(LRRK2):c.2809-18T>C
|
rs1453324975
|
0.00001
|
NM_198578.4(LRRK2):c.2826T>C (p.His942=)
|
rs886049357
|
0.00001
|
NM_198578.4(LRRK2):c.2830G>T (p.Asp944Tyr)
|
rs17519916
|
0.00001
|
NM_198578.4(LRRK2):c.2842C>T (p.Arg948Ter)
|
rs766809708
|
0.00001
|
NM_198578.4(LRRK2):c.2864C>T (p.Ser955Leu)
|
rs189460764
|
0.00001
|
NM_198578.4(LRRK2):c.2878+14T>C
|
rs1944322347
|
0.00001
|
NM_198578.4(LRRK2):c.2906G>A (p.Arg969Lys)
|
rs200577947
|
0.00001
|
NM_198578.4(LRRK2):c.2964C>A (p.Asp988Glu)
|
rs201980459
|
0.00001
|
NM_198578.4(LRRK2):c.2987A>T (p.Asp996Val)
|
rs886049358
|
0.00001
|
NM_198578.4(LRRK2):c.3028T>C (p.Leu1010=)
|
rs199635806
|
0.00001
|
NM_198578.4(LRRK2):c.3184A>C (p.Asn1062His)
|
rs201935017
|
0.00001
|
NM_198578.4(LRRK2):c.334C>T (p.Leu112Phe)
|
rs761514485
|
0.00001
|
NM_198578.4(LRRK2):c.3435A>G (p.Ser1145=)
|
rs886049359
|
0.00001
|
NM_198578.4(LRRK2):c.347+11T>C
|
rs181145872
|
0.00001
|
NM_198578.4(LRRK2):c.3496+9T>G
|
rs560559629
|
0.00001
|
NM_198578.4(LRRK2):c.3721G>A (p.Ala1241Thr)
|
rs767609721
|
0.00001
|
NM_198578.4(LRRK2):c.3864G>A (p.Met1288Ile)
|
rs747301221
|
0.00001
|
NM_198578.4(LRRK2):c.3867G>A (p.Gly1289=)
|
rs200798306
|
0.00001
|
NM_198578.4(LRRK2):c.3935G>A (p.Gly1312Glu)
|
rs758688913
|
0.00001
|
NM_198578.4(LRRK2):c.3946A>G (p.Lys1316Glu)
|
rs1944808301
|
0.00001
|
NM_198578.4(LRRK2):c.3960-5A>G
|
rs764870651
|
0.00001
|
NM_198578.4(LRRK2):c.4117G>A (p.Val1373Met)
|
rs756381499
|
0.00001
|
NM_198578.4(LRRK2):c.4168C>T (p.Leu1390=)
|
rs762465056
|
0.00001
|
NM_198578.4(LRRK2):c.4189+14T>C
|
rs1324322233
|
0.00001
|
NM_198578.4(LRRK2):c.4235G>A (p.Arg1412Gln)
|
rs751263185
|
0.00001
|
NM_198578.4(LRRK2):c.4317+3G>A
|
rs747703290
|
0.00001
|
NM_198578.4(LRRK2):c.4322G>A (p.Arg1441His)
|
rs34995376
|
0.00001
|
NM_198578.4(LRRK2):c.4327T>G (p.Ser1443Ala)
|
rs763128299
|
0.00001
|
NM_198578.4(LRRK2):c.4337C>T (p.Pro1446Leu)
|
rs74681492
|
0.00001
|
NM_198578.4(LRRK2):c.4391C>G (p.Ala1464Gly)
|
rs1040765034
|
0.00001
|
NM_198578.4(LRRK2):c.4401T>C (p.Ser1467=)
|
rs370239119
|
0.00001
|
NM_198578.4(LRRK2):c.4448G>A (p.Arg1483Gln)
|
rs113431708
|
0.00001
|
NM_198578.4(LRRK2):c.4537-6T>C
|
rs779382508
|
0.00001
|
NM_198578.4(LRRK2):c.4611G>A (p.Glu1537=)
|
rs575429866
|
0.00001
|
NM_198578.4(LRRK2):c.4827+6T>A
|
rs550610903
|
0.00001
|
NM_198578.4(LRRK2):c.4828-11G>A
|
rs202211993
|
0.00001
|
NM_198578.4(LRRK2):c.4828-9A>T
|
rs199843206
|
0.00001
|
NM_198578.4(LRRK2):c.4845G>A (p.Val1615=)
|
rs774887321
|
0.00001
|
NM_198578.4(LRRK2):c.4985T>C (p.Ile1662Thr)
|
rs778418727
|
0.00001
|
NM_198578.4(LRRK2):c.500T>G (p.Met167Arg)
|
rs201411683
|
0.00001
|
NM_198578.4(LRRK2):c.5105T>C (p.Met1702Thr)
|
rs200008981
|
0.00001
|
NM_198578.4(LRRK2):c.5171-9A>G
|
rs78243554
|
0.00001
|
NM_198578.4(LRRK2):c.5174G>A (p.Arg1725Gln)
|
rs72547979
|
0.00001
|
NM_198578.4(LRRK2):c.5182C>T (p.Arg1728Cys)
|
rs201292708
|
0.00001
|
NM_198578.4(LRRK2):c.5363T>C (p.Met1788Thr)
|
rs376533552
|
0.00001
|
NM_198578.4(LRRK2):c.5454T>C (p.Asp1818=)
|
rs968750174
|
0.00001
|
NM_198578.4(LRRK2):c.5684G>A (p.Arg1895Gln)
|
rs774140537
|
0.00001
|
NM_198578.4(LRRK2):c.572-14C>T
|
rs202012106
|
0.00001
|
NM_198578.4(LRRK2):c.5828G>A (p.Arg1943Gln)
|
rs780057140
|
0.00001
|
NM_198578.4(LRRK2):c.5896C>T (p.Leu1966Phe)
|
rs375022337
|
0.00001
|
NM_198578.4(LRRK2):c.5948+8G>C
|
rs756480297
|
0.00001
|
NM_198578.4(LRRK2):c.5982C>T (p.Asp1994=)
|
rs1329710738
|
0.00001
|
NM_198578.4(LRRK2):c.6012A>G (p.Thr2004=)
|
rs758448437
|
0.00001
|
NM_198578.4(LRRK2):c.6035T>C (p.Ile2012Thr)
|
rs34015634
|
0.00001
|
NM_198578.4(LRRK2):c.605A>G (p.Asn202Ser)
|
rs377550083
|
0.00001
|
NM_198578.4(LRRK2):c.6091A>T (p.Thr2031Ser)
|
rs78029637
|
0.00001
|
NM_198578.4(LRRK2):c.6175T>C (p.Phe2059Leu)
|
rs528838140
|
0.00001
|
NM_198578.4(LRRK2):c.620T>C (p.Ile207Thr)
|
rs1458896948
|
0.00001
|
NM_198578.4(LRRK2):c.6220G>A (p.Val2074Ile)
|
rs200498558
|
0.00001
|
NM_198578.4(LRRK2):c.6563G>C (p.Gly2188Ala)
|
rs202072135
|
0.00001
|
NM_198578.4(LRRK2):c.6702G>A (p.Lys2234=)
|
rs1265078699
|
0.00001
|
NM_198578.4(LRRK2):c.691T>C (p.Ser231Pro)
|
rs201332859
|
0.00001
|
NM_198578.4(LRRK2):c.7028+2T>C
|
rs199567279
|
0.00001
|
NM_198578.4(LRRK2):c.713A>T (p.Asn238Ile)
|
rs28365216
|
0.00001
|
NM_198578.4(LRRK2):c.7324C>T (p.Arg2442Cys)
|
rs199893519
|
0.00001
|
NM_198578.4(LRRK2):c.7328G>A (p.Arg2443Gln)
|
rs774151010
|
0.00001
|
NM_198578.4(LRRK2):c.7397T>A (p.Leu2466His)
|
rs281865057
|
0.00001
|
NM_198578.4(LRRK2):c.7435A>G (p.Asn2479Asp)
|
rs55633591
|
0.00001
|
NM_198578.4(LRRK2):c.834A>G (p.Thr278=)
|
rs199626996
|
0.00001
|
NM_198578.4(LRRK2):c.851A>G (p.Asn284Ser)
|
rs745619837
|
0.00001
|
NM_198578.4(LRRK2):c.959-5T>C
|
rs202079711
|
0.00001
|
NM_203446.2(SYNJ1):c.12_13dup (p.Trp5Tyrfs)
|
rs1227986180
|
0.00001
|
NM_203446.2(SYNJ1):c.9G>A (p.Lys3=)
|
rs1250657533
|
0.00001
|
NM_203446.3(SYNJ1):c.*108A>G
|
rs371381727
|
0.00001
|
NM_203446.3(SYNJ1):c.*109T>C
|
rs766434591
|
0.00001
|
NM_203446.3(SYNJ1):c.*120G>A
|
rs377721268
|
0.00001
|
NM_203446.3(SYNJ1):c.*124C>T
|
rs770180376
|
0.00001
|
NM_203446.3(SYNJ1):c.*127G>C
|
rs1342453394
|
0.00001
|
NM_203446.3(SYNJ1):c.*132C>A
|
rs373469623
|
0.00001
|
NM_203446.3(SYNJ1):c.*174G>A
|
rs745464855
|
0.00001
|
NM_203446.3(SYNJ1):c.*187T>C
|
rs748722673
|
0.00001
|
NM_203446.3(SYNJ1):c.*195T>G
|
rs1323976540
|
0.00001
|
NM_203446.3(SYNJ1):c.*212C>T
|
rs754791304
|
0.00001
|
NM_203446.3(SYNJ1):c.*21C>A
|
rs756737216
|
0.00001
|
NM_203446.3(SYNJ1):c.*232C>T
|
rs373563239
|
0.00001
|
NM_203446.3(SYNJ1):c.*235A>C
|
rs769099271
|
0.00001
|
NM_203446.3(SYNJ1):c.*253A>G
|
rs1398328287
|
0.00001
|
NM_203446.3(SYNJ1):c.*256C>T
|
rs565341830
|
0.00001
|
NM_203446.3(SYNJ1):c.*265C>A
|
rs769312346
|
0.00001
|
NM_203446.3(SYNJ1):c.*270C>T
|
rs748033451
|
0.00001
|
NM_203446.3(SYNJ1):c.*277A>G
|
rs781139343
|
0.00001
|
NM_203446.3(SYNJ1):c.*319G>C
|
rs565075239
|
0.00001
|
NM_203446.3(SYNJ1):c.*320C>T
|
rs116810192
|
0.00001
|
NM_203446.3(SYNJ1):c.*347A>G
|
rs1245095366
|
0.00001
|
NM_203446.3(SYNJ1):c.*388G>A
|
rs1283277174
|
0.00001
|
NM_203446.3(SYNJ1):c.*390G>A
|
rs769253550
|
0.00001
|
NM_203446.3(SYNJ1):c.*393C>T
|
rs140696929
|
0.00001
|
NM_203446.3(SYNJ1):c.*469T>C
|
rs753264526
|
0.00001
|
NM_203446.3(SYNJ1):c.*513T>C
|
rs373455294
|
0.00001
|
NM_203446.3(SYNJ1):c.*519C>T
|
rs2039314679
|
0.00001
|
NM_203446.3(SYNJ1):c.*522G>A
|
rs777945782
|
0.00001
|
NM_203446.3(SYNJ1):c.*540C>T
|
rs141012977
|
0.00001
|
NM_203446.3(SYNJ1):c.*638C>T
|
rs755473642
|
0.00001
|
NM_203446.3(SYNJ1):c.*644A>G
|
rs1358594027
|
0.00001
|
NM_203446.3(SYNJ1):c.*665C>G
|
rs150753892
|
0.00001
|
NM_203446.3(SYNJ1):c.*689C>T
|
rs766938091
|
0.00001
|
NM_203446.3(SYNJ1):c.*741C>T
|
rs1281984634
|
0.00001
|
NM_203446.3(SYNJ1):c.*75A>G
|
rs756090874
|
0.00001
|
NM_203446.3(SYNJ1):c.*763A>G
|
rs778073626
|
0.00001
|
NM_203446.3(SYNJ1):c.*798T>C
|
rs1007414965
|
0.00001
|
NM_203446.3(SYNJ1):c.*806G>A
|
rs772562248
|
0.00001
|
NM_203446.3(SYNJ1):c.-19T>A
|
rs1447119337
|
0.00001
|
NM_203446.3(SYNJ1):c.-23+19G>A
|
rs2043549128
|
0.00001
|
NM_203446.3(SYNJ1):c.-23+20G>A
|
rs1022879813
|
0.00001
|
NM_203446.3(SYNJ1):c.-23G>C
|
rs1195858283
|
0.00001
|
NM_203446.3(SYNJ1):c.-37G>A
|
rs1297512201
|
0.00001
|
NM_203446.3(SYNJ1):c.-56G>T
|
rs1486511197
|
0.00001
|
NM_203446.3(SYNJ1):c.-61C>T
|
rs932881262
|
0.00001
|
NM_203446.3(SYNJ1):c.-62G>A
|
rs984402214
|
0.00001
|
NM_203446.3(SYNJ1):c.-63G>A
|
rs779276328
|
0.00001
|
NM_203446.3(SYNJ1):c.-7_-5del
|
rs1463472857
|
0.00001
|
NM_203446.3(SYNJ1):c.-81G>T
|
rs907760868
|
0.00001
|
NM_203446.3(SYNJ1):c.-86G>A
|
rs768854034
|
0.00001
|
NM_203446.3(SYNJ1):c.1004A>C (p.Tyr335Ser)
|
rs1469620917
|
0.00001
|
NM_203446.3(SYNJ1):c.1118+7C>T
|
rs752329632
|
0.00001
|
NM_203446.3(SYNJ1):c.1118+9G>A
|
rs1241098561
|
0.00001
|
NM_203446.3(SYNJ1):c.1167A>G (p.Arg389=)
|
rs747274485
|
0.00001
|
NM_203446.3(SYNJ1):c.1201-20T>G
|
rs1421070500
|
0.00001
|
NM_203446.3(SYNJ1):c.1201-2A>G
|
rs1569086116
|
0.00001
|
NM_203446.3(SYNJ1):c.121C>T (p.Leu41Phe)
|
rs745374780
|
0.00001
|
NM_203446.3(SYNJ1):c.124+3A>G
|
rs1348650614
|
0.00001
|
NM_203446.3(SYNJ1):c.1281A>G (p.Ser427=)
|
rs1256463338
|
0.00001
|
NM_203446.3(SYNJ1):c.1290C>T (p.Ser430=)
|
rs919941488
|
0.00001
|
NM_203446.3(SYNJ1):c.1291G>A (p.Val431Met)
|
rs749980859
|
0.00001
|
NM_203446.3(SYNJ1):c.1315A>G (p.Ile439Val)
|
rs1569085743
|
0.00001
|
NM_203446.3(SYNJ1):c.1318T>C (p.Tyr440His)
|
rs1454342974
|
0.00001
|
NM_203446.3(SYNJ1):c.1369C>T (p.Arg457Cys)
|
rs2041512386
|
0.00001
|
NM_203446.3(SYNJ1):c.1370G>A (p.Arg457His)
|
rs1453138219
|
0.00001
|
NM_203446.3(SYNJ1):c.1400T>A (p.Phe467Tyr)
|
rs922232672
|
0.00001
|
NM_203446.3(SYNJ1):c.1427T>C (p.Ile476Thr)
|
rs771070426
|
0.00001
|
NM_203446.3(SYNJ1):c.1481G>A (p.Arg494Gln)
|
rs781599934
|
0.00001
|
NM_203446.3(SYNJ1):c.1507C>T (p.Arg503Cys)
|
rs115061921
|
0.00001
|
NM_203446.3(SYNJ1):c.1554G>C (p.Lys518Asn)
|
rs371301276
|
0.00001
|
NM_203446.3(SYNJ1):c.156A>G (p.Thr52=)
|
rs144728528
|
0.00001
|
NM_203446.3(SYNJ1):c.1601G>A (p.Arg534Gln)
|
rs750585610
|
0.00001
|
NM_203446.3(SYNJ1):c.1641A>G (p.Gln547=)
|
rs753893833
|
0.00001
|
NM_203446.3(SYNJ1):c.1645C>T (p.Arg549Cys)
|
rs2041280422
|
0.00001
|
NM_203446.3(SYNJ1):c.1671A>G (p.Thr557=)
|
rs1461901564
|
0.00001
|
NM_203446.3(SYNJ1):c.1697C>T (p.Pro566Leu)
|
rs141001350
|
0.00001
|
NM_203446.3(SYNJ1):c.177A>G (p.Ala59=)
|
rs749212329
|
0.00001
|
NM_203446.3(SYNJ1):c.1824G>A (p.Gln608=)
|
rs371628726
|
0.00001
|
NM_203446.3(SYNJ1):c.1825A>C (p.Lys609Gln)
|
rs760221186
|
0.00001
|
NM_203446.3(SYNJ1):c.1832G>T (p.Trp611Leu)
|
rs1481650772
|
0.00001
|
NM_203446.3(SYNJ1):c.1848G>A (p.Gln616=)
|
rs1601348530
|
0.00001
|
NM_203446.3(SYNJ1):c.1880T>C (p.Leu627Pro)
|
rs1425713908
|
0.00001
|
NM_203446.3(SYNJ1):c.1886C>T (p.Ala629Val)
|
rs773372851
|
0.00001
|
NM_203446.3(SYNJ1):c.193G>A (p.Val65Ile)
|
rs375254567
|
0.00001
|
NM_203446.3(SYNJ1):c.1971T>C (p.Thr657=)
|
rs574400482
|
0.00001
|
NM_203446.3(SYNJ1):c.200G>A (p.Arg67Gln)
|
rs969446324
|
0.00001
|
NM_203446.3(SYNJ1):c.2050T>G (p.Cys684Gly)
|
rs751110096
|
0.00001
|
NM_203446.3(SYNJ1):c.2090T>C (p.Val697Ala)
|
rs764946363
|
0.00001
|
NM_203446.3(SYNJ1):c.211G>C (p.Gly71Arg)
|
rs1569113660
|
0.00001
|
NM_203446.3(SYNJ1):c.2126G>A (p.Arg709Gln)
|
rs142478967
|
0.00001
|
NM_203446.3(SYNJ1):c.2146-14C>G
|
rs775638018
|
0.00001
|
NM_203446.3(SYNJ1):c.2165A>C (p.His722Pro)
|
rs867547488
|
0.00001
|
NM_203446.3(SYNJ1):c.2201G>A (p.Arg734Gln)
|
rs1404522896
|
0.00001
|
NM_203446.3(SYNJ1):c.2202A>C (p.Arg734=)
|
rs924156740
|
0.00001
|
NM_203446.3(SYNJ1):c.220A>G (p.Met74Val)
|
rs762562029
|
0.00001
|
NM_203446.3(SYNJ1):c.2223A>G (p.Glu741=)
|
rs2040867289
|
0.00001
|
NM_203446.3(SYNJ1):c.2295T>C (p.Asn765=)
|
rs142455194
|
0.00001
|
NM_203446.3(SYNJ1):c.2304+9A>G
|
rs1569062470
|
0.00001
|
NM_203446.3(SYNJ1):c.2332G>A (p.Val778Ile)
|
rs762956275
|
0.00001
|
NM_203446.3(SYNJ1):c.2372A>G (p.Asp791Gly)
|
rs1195357077
|
0.00001
|
NM_203446.3(SYNJ1):c.2378A>G (p.Tyr793Cys)
|
rs1283151166
|
0.00001
|
NM_203446.3(SYNJ1):c.2403C>T (p.Thr801=)
|
rs755696516
|
0.00001
|
NM_203446.3(SYNJ1):c.2446C>T (p.Pro816Ser)
|
rs1473591033
|
0.00001
|
NM_203446.3(SYNJ1):c.2453A>G (p.Asp818Gly)
|
rs1204628755
|
0.00001
|
NM_203446.3(SYNJ1):c.2505C>A (p.Ser835Arg)
|
rs748032685
|
0.00001
|
NM_203446.3(SYNJ1):c.255G>T (p.Met85Ile)
|
rs1198340069
|
0.00001
|
NM_203446.3(SYNJ1):c.2567C>A (p.Thr856Asn)
|
rs1191504880
|
0.00001
|
NM_203446.3(SYNJ1):c.25A>G (p.Ile9Val)
|
rs757895747
|
0.00001
|
NM_203446.3(SYNJ1):c.2603T>C (p.Ile868Thr)
|
rs542283936
|
0.00001
|
NM_203446.3(SYNJ1):c.2604A>G (p.Ile868Met)
|
rs377165480
|
0.00001
|
NM_203446.3(SYNJ1):c.2713C>A (p.Pro905Thr)
|
rs2040473157
|
0.00001
|
NM_203446.3(SYNJ1):c.2720A>G (p.Asn907Ser)
|
rs542405957
|
0.00001
|
NM_203446.3(SYNJ1):c.2744T>C (p.Ile915Thr)
|
rs867564053
|
0.00001
|
NM_203446.3(SYNJ1):c.2782G>A (p.Val928Ile)
|
rs1327987813
|
0.00001
|
NM_203446.3(SYNJ1):c.2786T>C (p.Ile929Thr)
|
rs755258923
|
0.00001
|
NM_203446.3(SYNJ1):c.2791_2795delATAAG (p.Arg932fs)
|
rs778394516
|
0.00001
|
NM_203446.3(SYNJ1):c.2795+7T>C
|
rs780616248
|
0.00001
|
NM_203446.3(SYNJ1):c.2818G>T (p.Val940Phe)
|
rs890538025
|
0.00001
|
NM_203446.3(SYNJ1):c.2860C>T (p.Leu954=)
|
rs374794895
|
0.00001
|
NM_203446.3(SYNJ1):c.2875-20T>C
|
rs187333014
|
0.00001
|
NM_203446.3(SYNJ1):c.2875-4C>A
|
rs1231504349
|
0.00001
|
NM_203446.3(SYNJ1):c.2875-6C>T
|
rs183558612
|
0.00001
|
NM_203446.3(SYNJ1):c.2882A>G (p.Asn961Ser)
|
rs754401787
|
0.00001
|
NM_203446.3(SYNJ1):c.2896A>G (p.Ile966Val)
|
rs1601283648
|
0.00001
|
NM_203446.3(SYNJ1):c.2902T>G (p.Leu968Val)
|
rs1372258834
|
0.00001
|
NM_203446.3(SYNJ1):c.290G>A (p.Arg97Gln)
|
rs758406227
|
0.00001
|
NM_203446.3(SYNJ1):c.2954A>G (p.Lys985Arg)
|
rs1325187801
|
0.00001
|
NM_203446.3(SYNJ1):c.2996T>A (p.Leu999His)
|
rs1601283152
|
0.00001
|
NM_203446.3(SYNJ1):c.3007G>A (p.Ala1003Thr)
|
rs911362591
|
0.00001
|
NM_203446.3(SYNJ1):c.303T>C (p.Thr101=)
|
rs1445704945
|
0.00001
|
NM_203446.3(SYNJ1):c.3042T>A (p.Asp1014Glu)
|
rs115353088
|
0.00001
|
NM_203446.3(SYNJ1):c.3049G>T (p.Asp1017Tyr)
|
rs2040081654
|
0.00001
|
NM_203446.3(SYNJ1):c.3187T>C (p.Ser1063Pro)
|
rs767636058
|
0.00001
|
NM_203446.3(SYNJ1):c.3195C>T (p.Pro1065=)
|
rs763564076
|
0.00001
|
NM_203446.3(SYNJ1):c.3196A>G (p.Ile1066Val)
|
rs773437219
|
0.00001
|
NM_203446.3(SYNJ1):c.320G>A (p.Arg107Gln)
|
rs757734263
|
0.00001
|
NM_203446.3(SYNJ1):c.3266A>G (p.Gln1089Arg)
|
rs779932426
|
0.00001
|
NM_203446.3(SYNJ1):c.3270A>G (p.Pro1090=)
|
rs1299635688
|
0.00001
|
NM_203446.3(SYNJ1):c.3273A>C (p.Ala1091=)
|
rs1282370368
|
0.00001
|
NM_203446.3(SYNJ1):c.3304C>T (p.Pro1102Ser)
|
rs1368672974
|
0.00001
|
NM_203446.3(SYNJ1):c.3318G>C (p.Lys1106Asn)
|
rs1172188985
|
0.00001
|
NM_203446.3(SYNJ1):c.3324G>A (p.Pro1108=)
|
rs757804939
|
0.00001
|
NM_203446.3(SYNJ1):c.3333C>G (p.Pro1111=)
|
rs372510070
|
0.00001
|
NM_203446.3(SYNJ1):c.3364C>T (p.Pro1122Ser)
|
rs1274970038
|
0.00001
|
NM_203446.3(SYNJ1):c.3391+15T>A
|
rs754412906
|
0.00001
|
NM_203446.3(SYNJ1):c.3410C>T (p.Pro1137Leu)
|
rs569046864
|
0.00001
|
NM_203446.3(SYNJ1):c.3430+12C>T
|
rs1468489631
|
0.00001
|
NM_203446.3(SYNJ1):c.3431-10C>T
|
rs774777679
|
0.00001
|
NM_203446.3(SYNJ1):c.3475G>A (p.Glu1159Lys)
|
rs561276644
|
0.00001
|
NM_203446.3(SYNJ1):c.3481C>G (p.Pro1161Ala)
|
rs1473250864
|
0.00001
|
NM_203446.3(SYNJ1):c.3517+10C>T
|
rs1373208718
|
0.00001
|
NM_203446.3(SYNJ1):c.3518-17T>C
|
rs773319067
|
0.00001
|
NM_203446.3(SYNJ1):c.351A>G (p.Ser117=)
|
rs144142216
|
0.00001
|
NM_203446.3(SYNJ1):c.3584G>C (p.Arg1195Thr)
|
rs1336877948
|
0.00001
|
NM_203446.3(SYNJ1):c.3588+15G>A
|
rs540863552
|
0.00001
|
NM_203446.3(SYNJ1):c.3588+5G>A
|
rs1050566897
|
0.00001
|
NM_203446.3(SYNJ1):c.3598C>T (p.Pro1200Ser)
|
rs1339413028
|
0.00001
|
NM_203446.3(SYNJ1):c.3601C>T (p.Arg1201Cys)
|
rs114994257
|
0.00001
|
NM_203446.3(SYNJ1):c.3604G>T (p.Ala1202Ser)
|
rs543639398
|
0.00001
|
NM_203446.3(SYNJ1):c.3635C>T (p.Ala1212Val)
|
rs386352368
|
0.00001
|
NM_203446.3(SYNJ1):c.3639G>A (p.Arg1213=)
|
rs745882722
|
0.00001
|
NM_203446.3(SYNJ1):c.3680C>G (p.Thr1227Arg)
|
rs1275854378
|
0.00001
|
NM_203446.3(SYNJ1):c.3703A>G (p.Thr1235Ala)
|
rs781066636
|
0.00001
|
NM_203446.3(SYNJ1):c.3765G>A (p.Pro1255=)
|
rs781500048
|
0.00001
|
NM_203446.3(SYNJ1):c.3766C>T (p.Pro1256Ser)
|
rs138334718
|
0.00001
|
NM_203446.3(SYNJ1):c.3786G>A (p.Glu1262=)
|
rs750931400
|
0.00001
|
NM_203446.3(SYNJ1):c.3797C>G (p.Pro1266Arg)
|
rs767170641
|
0.00001
|
NM_203446.3(SYNJ1):c.3840G>A (p.Leu1280=)
|
rs2039703499
|
0.00001
|
NM_203446.3(SYNJ1):c.3915+10A>G
|
rs1167944043
|
0.00001
|
NM_203446.3(SYNJ1):c.409A>T (p.Ile137Phe)
|
rs780191673
|
0.00001
|
NM_203446.3(SYNJ1):c.434C>T (p.Ala145Val)
|
rs111886678
|
0.00001
|
NM_203446.3(SYNJ1):c.437A>G (p.His146Arg)
|
rs2042338087
|
0.00001
|
NM_203446.3(SYNJ1):c.439C>T (p.Arg147Cys)
|
rs1462349719
|
0.00001
|
NM_203446.3(SYNJ1):c.440G>A (p.Arg147His)
|
rs749741780
|
0.00001
|
NM_203446.3(SYNJ1):c.480-7C>T
|
rs748707134
|
0.00001
|
NM_203446.3(SYNJ1):c.549G>A (p.Met183Ile)
|
rs760573856
|
0.00001
|
NM_203446.3(SYNJ1):c.550T>A (p.Cys184Ser)
|
rs903887015
|
0.00001
|
NM_203446.3(SYNJ1):c.564A>C (p.Glu188Asp)
|
rs1423467857
|
0.00001
|
NM_203446.3(SYNJ1):c.592C>A (p.Gln198Lys)
|
rs771210989
|
0.00001
|
NM_203446.3(SYNJ1):c.614C>T (p.Ser205Leu)
|
rs747414228
|
0.00001
|
NM_203446.3(SYNJ1):c.656G>A (p.Arg219Gln)
|
rs398122403
|
0.00001
|
NM_203446.3(SYNJ1):c.706-7T>C
|
rs1482528429
|
0.00001
|
NM_203446.3(SYNJ1):c.706-8T>C
|
rs752261171
|
0.00001
|
NM_203446.3(SYNJ1):c.711G>A (p.Val237=)
|
rs780954414
|
0.00001
|
NM_203446.3(SYNJ1):c.727G>T (p.Val243Phe)
|
rs754917573
|
0.00001
|
NM_203446.3(SYNJ1):c.741A>G (p.Ile247Met)
|
rs1477089702
|
0.00001
|
NM_203446.3(SYNJ1):c.747C>T (p.Ile249=)
|
rs766187063
|
0.00001
|
NM_203446.3(SYNJ1):c.790-18A>G
|
rs764219821
|
0.00001
|
NM_203446.3(SYNJ1):c.808C>T (p.Arg270Cys)
|
rs547450707
|
0.00001
|
NM_203446.3(SYNJ1):c.834T>C (p.Asn278=)
|
rs776217239
|
0.00001
|
NM_203446.3(SYNJ1):c.843T>C (p.Ala281=)
|
rs372016074
|
0.00001
|
NM_203446.3(SYNJ1):c.851+20G>C
|
rs778826127
|
0.00001
|
NM_203446.3(SYNJ1):c.862A>C (p.Thr288Pro)
|
rs571120951
|
0.00001
|
NM_203446.3(SYNJ1):c.873C>T (p.Asn291=)
|
rs1326451805
|
0.00001
|
NM_203446.3(SYNJ1):c.877T>C (p.Tyr293His)
|
rs763234456
|
0.00001
|
NM_203446.3(SYNJ1):c.885A>G (p.Lys295=)
|
rs1219063833
|
0.00001
|
NM_203446.3(SYNJ1):c.93C>G (p.Leu31=)
|
rs201322530
|
0.00001
|
NM_203446.3(SYNJ1):c.948+7A>G
|
rs777999783
|
0.00001
|
NM_203446.3(SYNJ1):c.96G>A (p.Met32Ile)
|
rs770096593
|
0.00001
|
NM_203446.3(SYNJ1):c.981T>C (p.Asp327=)
|
rs759120326
|
0.00001
|
NM_203446.3(SYNJ1):c.988A>T (p.Met330Leu)
|
rs1438694992
|
0.00001
|
(AAGGG)exp
|
|
|
GRCh37/hg19 1q22(chr1:155188179-155209868)
|
|
|
GRCh37/hg19 4q22.1(chr4:90647764-90758128)
|
|
|
GRCh37/hg19 4q22.1(chr4:90647779-90756863)x3
|
|
|
GRCh37/hg19 6q26(chr6:161969922-161990424)
|
|
|
GRCh37/hg19 6q26(chr6:162137107-162137163)
|
|
|
GRCh37/hg19 6q26(chr6:162206818-162206900)
|
|
|
GRCh37/hg19 6q26(chr6:162394320-162475157)
|
|
|
GRCh37/hg19 6q26(chr6:162475128-162475157)
|
|
|
GRCh37/hg19 6q26(chr6:162622150-162622256)
|
|
|
GRCh37/hg19 6q26(chr6:162622150-162683772)
|
|
|
GRCh37/hg19 6q26(chr6:162683576-162683772)
|
|
|
GRCh37/hg19 6q26(chr6:162864400-162864441)
|
|
|
GRCh38/hg38 4q22.1(chr4:88504598-90127832)x3
|
|
|
I655T
|
|
|
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.(?_19199339)_(22987879_?)dup
|
|
|
NC_000001.10:g.(?_20972033)_(20972236_?)del
|
|
|
NC_000001.10:g.(?_20972043)_(20972226_?)del
|
|
|
NC_000001.10:g.(?_20974682)_(20975609_?)del
|
|
|
NC_000001.10:g.(?_65849856)_(65855330_?)dup
|
|
|
NC_000001.10:g.(?_8022836)_(8031035_?)dup
|
|
|
NC_000001.10:g.(?_8022846)_(8037818_?)del
|
|
|
NC_000001.10:g.155183259_(155210558_155210826)del
|
|
|
NC_000001.11:g.(?_16991714)_(16992601_?)del
|
|
|
NC_000001.11:g.(?_7969325)_(7969424_?)del
|
|
|
NC_000002.11:g.(228560798_228563451)_228563704del
|
|
|
NC_000002.11:g.(?_179296804)_(179456251_?)dup
|
|
|
NC_000002.11:g.(?_228552093)_(228567054_?)dup
|
|
|
NC_000002.11:g.(?_228552113)_(228567034_?)del
|
|
|
NC_000002.11:g.(?_228552113)_(228567034_?)dup
|
|
|
NC_000002.11:g.(?_228566865)_(228567034_?)dup
|
|
|
NC_000002.11:g.(?_74588271)_(74607174_?)del
|
|
|
NC_000002.11:g.(?_74588626)_(74607164_?)dup
|
|
|
NC_000002.11:g.(?_74597072)_(74607164_?)dup
|
|
|
NC_000002.12:g.(?_227616600)_(227744395_?)del
|
|
|
NC_000002.12:g.(?_227687377)_(227702338_?)del
|
|
|
NC_000002.12:g.74371167CCT[3]
|
|
|
NC_000004.11:g.(?_90647315)_(90756828_?)del
|
|
|
NC_000004.11:g.(?_90647315)_(90756828_?)dup
|
|
|
NC_000004.11:g.(?_90647315)_(90756838_?)dup
|
|
|
NC_000004.11:g.(?_90647779)_(90756818_?)dup
|
|
|
NC_000004.11:g.39350045_39350099delinsAAGGG[(141_831)]
|
|
|
NC_000004.12:g.(?_89724098)_(89927969_89934809)dup
|
|
|
NC_000005.9:g.(?_1253823)_(1448148_?)del
|
|
|
NC_000005.9:g.(?_1394830)_(1394893_?)dup
|
|
|
NC_000005.9:g.(?_149503793)_(149516630_?)dup
|
|
|
NC_000005.9:g.(?_218471)_(1895829_?)del
|
|
|
NC_000006.11:g.(162683798_162864341)_(162864506_163148693)dup
|
|
|
NC_000006.11:g.(?_161768590)_(162475206_?)dup
|
|
|
NC_000006.11:g.(?_161969866)_(161970055_?)dup
|
|
|
NC_000006.11:g.(?_162206784)_(162206960_?)dup
|
|
|
NC_000006.11:g.(?_162394314)_(162475226_?)dup
|
|
|
NC_000006.11:g.(?_162474785)_(162475494_?)del
|
|
|
NC_000006.11:g.(?_162622143)_(163148721_?)dup
|
|
|
NC_000006.11:g.(?_162622163)_(162622284_?)dup
|
|
|
NC_000006.11:g.(?_162683537)_(162683817_?)dup
|
|
|
NC_000006.11:g.(?_162683537)_(162864525_?)dup
|
|
|
NC_000006.11:g.(?_162864322)_(162864525_?)dup
|
|
|
NC_000006.12:g.(?_161569335)_(161569436_?)del
|
|
|
NC_000006.12:g.(?_161785752)_(161973437_?)del
|
|
|
NC_000006.12:g.(?_162054091)_(162054174_?)del
|
|
|
NC_000006.12:g.(?_162201111)_(162201272_?)del
|
|
|
NC_000006.12:g.(?_162201111)_(162262785_?)del
|
|
|
NC_000006.12:g.(?_162201131)_(162443473_?)del
|
|
|
NC_000006.12:g.(?_162262505)_(162262785_?)del
|
|
|
NC_000006.12:g.(?_162262505)_(162443493_?)del
|
|
|
NC_000006.12:g.(?_162262525)_(162275409_?)dup
|
|
|
NC_000008.10:g.(42297172_42302163)_(42302281_42317413)del
|
|
|
NC_000008.10:g.(?_42275320)_(42297172_42302163)del
|
|
|
NC_000016.9:g.(?_46694384)_(46782105_?)dup
|
|
|
NC_000017.11:g.45982995A>G
|
|
|
NC_000019.10:g.(?_41966917)_(41978818_?)dup
|
|
|
NC_000019.10:g.(?_41968775)_(41970552_?)del
|
|
|
NC_000019.9:g.(?_42471089)_(42486278_?)del
|
|
|
NC_000019.9:g.(?_42479761)_(42492734_?)del
|
|
|
NC_000019.9:g.(?_42482078)_(42498228_?)dup
|
|
|
NC_000019.9:g.(?_42489050)_(42490401_?)del
|
|
|
NC_000019.9:g.(?_42489996)_(42492734_?)dup
|
|
|
NC_000021.8:g.(?_32439271)_(37133458_?)dup
|
|
|
NC_000021.8:g.(?_33974153)_(34074377_?)dup
|
|
|
NC_000021.8:g.(?_33974153)_(34100371_?)dup
|
|
|
NC_000021.8:g.(?_34000069)_(34101351_?)dup
|
|
|
NC_000021.8:g.(?_34011198)_(34100351_?)del
|
|
|
NC_000021.8:g.(?_34029319)_(34031816_?)del
|
|
|
NC_000021.8:g.(?_34072128)_(34074377_?)del
|
|
|
NC_000021.9:g.(?_32601843)_(32634904_?)dup
|
|
|
NC_000022.10:g.(?_32870990)_(32875282_?)dup
|
|
|
NC_000023.11:g.(155246216_?)_(?_155288781)del
|
|
|
NC_000023.11:g.155264167_155265545del
|
|
|
NG_008165.1:g.12526CAR[46_?]
|
|
|
NG_032161.2:g.(87059_102191)_(118197_128986)del
|
|
|
NG_050658.1:g.(5235_69181)_(69440_100126)del
|
|
|
NM_000157.4(GBA1):c.*92G>A
|
|
|
NM_000157.4(GBA1):c.1052G>C (p.Trp351Ser)
|
rs1553217294
|
|
NM_000157.4(GBA1):c.10T>C (p.Ser4Pro)
|
rs2148083300
|
|
NM_000157.4(GBA1):c.1192C>T (p.Arg398Ter)
|
rs121908309
|
|
NM_000157.4(GBA1):c.1220T>C (p.Ile407Thr)
|
rs1057519358
|
|
NM_000157.4(GBA1):c.1249T>G (p.Trp417Gly)
|
rs1450426641
|
|
NM_000157.4(GBA1):c.1265_1319del (p.Leu422fs)
|
rs80356768
|
|
NM_000157.4(GBA1):c.1277C>T (p.Pro426Leu)
|
rs1057519357
|
|
NM_000157.4(GBA1):c.1294T>A (p.Trp432Arg)
|
rs1557901552
|
|
NM_000157.4(GBA1):c.1312G>C (p.Asp438His)
|
rs1553217009
|
|
NM_000157.4(GBA1):c.1388G>C (p.Ser463Thr)
|
rs1571965884
|
|
NM_000157.4(GBA1):c.1440G>C (p.Lys480Asn)
|
rs1057519356
|
|
NM_000157.4(GBA1):c.1448T>C (p.Leu483Pro)
|
rs421016
|
|
NM_000157.4(GBA1):c.1506-10_1506-9delinsGA
|
rs1557900564
|
|
NM_000157.4(GBA1):c.1586A>G (p.His529Arg)
|
rs1571964031
|
|
NM_000157.4(GBA1):c.203dup (p.Thr69fs)
|
rs1170895261
|
|
NM_000157.4(GBA1):c.221G>C (p.Gly74Ala)
|
rs371592589
|
|
NM_000157.4(GBA1):c.232C>T (p.Arg78Cys)
|
|
|
NM_000157.4(GBA1):c.635C>G (p.Ser212Ter)
|
rs1671872221
|
|
NM_000157.4(GBA1):c.653G>A (p.Trp218Ter)
|
rs867929413
|
|
NM_000157.4(GBA1):c.661C>A (p.Pro221Thr)
|
rs866075757
|
|
NM_000157.4(GBA1):c.896T>A (p.Ile299Asn)
|
|
|
NM_000157.4(GBA1):c.914del (p.Pro305fs)
|
rs1366567865
|
|
NM_000345.4(SNCA):c.*77C>A
|
rs145304567
|
|
NM_000345.4(SNCA):c.100A>G (p.Lys34Glu)
|
rs1330229174
|
|
NM_000345.4(SNCA):c.105G>A (p.Glu35=)
|
|
|
NM_000345.4(SNCA):c.121+9A>C
|
|
|
NM_000345.4(SNCA):c.122-2A>C
|
rs2110488615
|
|
NM_000345.4(SNCA):c.136G>A (p.Glu46Lys)
|
rs104893875
|
|
NM_000345.4(SNCA):c.152G>A (p.Gly51Asp)
|
rs431905511
|
|
NM_000345.4(SNCA):c.157G>A (p.Ala53Thr)
|
rs104893877
|
|
NM_000345.4(SNCA):c.158C>T (p.Ala53Val)
|
rs542171324
|
|
NM_000345.4(SNCA):c.163+6C>A
|
rs2110488377
|
|
NM_000345.4(SNCA):c.163+7T>G
|
rs1578405610
|
|
NM_000345.4(SNCA):c.164-16T>A
|
|
|
NM_000345.4(SNCA):c.174G>C (p.Lys58Asn)
|
|
|
NM_000345.4(SNCA):c.203G>A (p.Gly68Glu)
|
|
|
NM_000345.4(SNCA):c.217G>A (p.Gly73Ser)
|
|
|
NM_000345.4(SNCA):c.243A>G (p.Thr81=)
|
rs568436589
|
|
NM_000345.4(SNCA):c.247G>C (p.Glu83Gln)
|
rs2110460484
|
|
NM_000345.4(SNCA):c.306+20G>A
|
|
|
NM_000345.4(SNCA):c.306+7C>T
|
rs2110460139
|
|
NM_000345.4(SNCA):c.307-13C>T
|
|
|
NM_000345.4(SNCA):c.31G>T (p.Ala11Ser)
|
|
|
NM_000345.4(SNCA):c.342A>C (p.Glu114Asp)
|
|
|
NM_000345.4(SNCA):c.349C>T (p.Pro117Ser)
|
|
|
NM_000345.4(SNCA):c.367G>A (p.Glu123Lys)
|
|
|
NM_000345.4(SNCA):c.375T>C (p.Tyr125=)
|
|
|
NM_000345.4(SNCA):c.381G>A (p.Met127Ile)
|
|
|
NM_000345.4(SNCA):c.390+7G>C
|
|
|
NM_000345.4(SNCA):c.391-14T>C
|
|
|
NM_000345.4(SNCA):c.391-7A>G
|
rs2110065158
|
|
NM_000345.4(SNCA):c.396G>T (p.Gly132=)
|
|
|
NM_000345.4(SNCA):c.401A>G (p.Gln134Arg)
|
|
|
NM_000345.4(SNCA):c.47T>C (p.Val16Ala)
|
rs1289802008
|
|
NM_000345.4(SNCA):c.88G>C (p.Ala30Pro)
|
rs104893878
|
|
NM_000345.4(SNCA):c.89C>G (p.Ala30Gly)
|
rs2110525413
|
|
NM_000345.4(SNCA):c.99A>G (p.Thr33=)
|
|
|
NM_000345.4(SNCA):c.9A>G (p.Val3=)
|
|
|
NM_000669.5(ADH1C):c.1066A>G (p.Ile356Val)
|
|
|
NM_001005741.2(GBA1):c.[1448T>C;1483G>C;1497G>C]
|
|
|
NM_001013663.2(PTRHD1):c.155G>A (p.Cys52Tyr)
|
rs781442277
|
|
NM_001018111.3(PODXL):c.1214G>A (p.Ser405Asn)
|
rs869312171
|
|
NM_001018111.3(PODXL):c.1381C>A (p.Pro461Thr)
|
rs869312170
|
|
NM_001018111.3(PODXL):c.89_90insGTCGCCCC (p.Gln32fs)
|
rs1554391082
|
|
NM_001018111.3(PODXL):c.977G>A (p.Arg326Gln)
|
rs869312172
|
|
NM_001029896.2(WDR45):c.69_75del (p.Cys23fs)
|
rs1602540581
|
|
NM_001040142.2(SCN2A):c.3972G>A (p.Arg1324=)
|
rs1057518117
|
|
NM_001044.5(SLC6A3):c.1031+1G>A
|
rs431905514
|
|
NM_001044.5(SLC6A3):c.1031+6C>T
|
rs767925756
|
|
NM_001044.5(SLC6A3):c.1031+71G>T
|
rs40358
|
|
NM_001044.5(SLC6A3):c.1032-17G>A
|
|
|
NM_001044.5(SLC6A3):c.1032-20G>A
|
rs200430075
|
|
NM_001044.5(SLC6A3):c.1032-20G>C
|
rs200430075
|
|
NM_001044.5(SLC6A3):c.1032-5T>C
|
rs1208452818
|
|
NM_001044.5(SLC6A3):c.1042G>C (p.Val348Leu)
|
rs1756241093
|
|
NM_001044.5(SLC6A3):c.1068G>A (p.Thr356=)
|
rs562538093
|
|
NM_001044.5(SLC6A3):c.1083C>G (p.Gly361=)
|
|
|
NM_001044.5(SLC6A3):c.1084T>C (p.Phe362Leu)
|
|
|
NM_001044.5(SLC6A3):c.1087G>C (p.Val363Leu)
|
|
|
NM_001044.5(SLC6A3):c.1090G>A (p.Val364Ile)
|
|
|
NM_001044.5(SLC6A3):c.1103T>A (p.Leu368Gln)
|
rs267607068
|
|
NM_001044.5(SLC6A3):c.1104G>A (p.Leu368=)
|
|
|
NM_001044.5(SLC6A3):c.1107G>A (p.Gly369=)
|
rs759094634
|
|
NM_001044.5(SLC6A3):c.1111A>C (p.Met371Leu)
|
|
|
NM_001044.5(SLC6A3):c.1131G>T (p.Val377=)
|
|
|
NM_001044.5(SLC6A3):c.114C>G (p.Asn38Lys)
|
rs6350
|
|
NM_001044.5(SLC6A3):c.1156+9C>T
|
rs921062478
|
|
NM_001044.5(SLC6A3):c.1156G>A (p.Gly386Arg)
|
|
|
NM_001044.5(SLC6A3):c.1157-20C>G
|
rs2126344195
|
|
NM_001044.5(SLC6A3):c.1161A>G (p.Pro387=)
|
|
|
NM_001044.5(SLC6A3):c.117A>G (p.Gly39=)
|
|
|
NM_001044.5(SLC6A3):c.1197C>G (p.Ala399=)
|
rs1171195804
|
|
NM_001044.5(SLC6A3):c.1216G>A (p.Ala406Thr)
|
rs1402133250
|
|
NM_001044.5(SLC6A3):c.1225G>A (p.Val409Met)
|
|
|
NM_001044.5(SLC6A3):c.1248C>T (p.Leu416=)
|
rs1553985998
|
|
NM_001044.5(SLC6A3):c.1251C>T (p.Thr417=)
|
|
|
NM_001044.5(SLC6A3):c.1260C>T (p.Ile420=)
|
|
|
NM_001044.5(SLC6A3):c.1266C>T (p.Ser422=)
|
|
|
NM_001044.5(SLC6A3):c.1267G>A (p.Ala423Thr)
|
rs1170256759
|
|
NM_001044.5(SLC6A3):c.1269+12G>T
|
|
|
NM_001044.5(SLC6A3):c.1269+17G>A
|
rs374618829
|
|
NM_001044.5(SLC6A3):c.1269+5G>A
|
rs2126343796
|
|
NM_001044.5(SLC6A3):c.1270-12C>T
|
|
|
NM_001044.5(SLC6A3):c.1270-19C>T
|
|
|
NM_001044.5(SLC6A3):c.1270-4G>A
|
|
|
NM_001044.5(SLC6A3):c.1293C>T (p.Ile431=)
|
rs2126340135
|
|
NM_001044.5(SLC6A3):c.1299G>T (p.Gly433=)
|
rs1480967154
|
|
NM_001044.5(SLC6A3):c.1305C>A (p.Ile435=)
|
|
|
NM_001044.5(SLC6A3):c.1305C>G (p.Ile435Met)
|
rs760545154
|
|
NM_001044.5(SLC6A3):c.1305C>T (p.Ile435=)
|
rs760545154
|
|
NM_001044.5(SLC6A3):c.1311G>C (p.Glu437Asp)
|
rs752558131
|
|
NM_001044.5(SLC6A3):c.132C>T (p.Ser44=)
|
|
|
NM_001044.5(SLC6A3):c.1347G>T (p.Thr449=)
|
rs759854756
|
|
NM_001044.5(SLC6A3):c.1359C>T (p.Val453=)
|
rs1399414786
|
|
NM_001044.5(SLC6A3):c.1371C>T (p.Phe457=)
|
rs770479961
|
|
NM_001044.5(SLC6A3):c.1379C>G (p.Ser460Cys)
|
|
|
NM_001044.5(SLC6A3):c.1398+12C>T
|
|
|
NM_001044.5(SLC6A3):c.1398+13G>A
|
|
|
NM_001044.5(SLC6A3):c.1398+16G>A
|
|
|
NM_001044.5(SLC6A3):c.1398+5G>A
|
rs1756068240
|
|
NM_001044.5(SLC6A3):c.1398+5_1398+6dup
|
rs2126339779
|
|
NM_001044.5(SLC6A3):c.1399-11C>T
|
|
|
NM_001044.5(SLC6A3):c.1399-11del
|
|
|
NM_001044.5(SLC6A3):c.1399-19A>G
|
|
|
NM_001044.5(SLC6A3):c.1408_1409delinsAG (p.Tyr470Ser)
|
rs2126338512
|
|
NM_001044.5(SLC6A3):c.1419G>A (p.Thr473=)
|
|
|
NM_001044.5(SLC6A3):c.1441G>A (p.Gly481Ser)
|
|
|
NM_001044.5(SLC6A3):c.1443C>T (p.Gly481=)
|
|
|
NM_001044.5(SLC6A3):c.1459G>A (p.Gly487Arg)
|
rs2126338372
|
|
NM_001044.5(SLC6A3):c.147C>T (p.Asn49=)
|
|
|
NM_001044.5(SLC6A3):c.1485G>A (p.Val495=)
|
rs1756052542
|
|
NM_001044.5(SLC6A3):c.1498+13_1498+14delinsTG
|
rs2126338242
|
|
NM_001044.5(SLC6A3):c.1498+8C>T
|
|
|
NM_001044.5(SLC6A3):c.1504G>A (p.Gly502Arg)
|
|
|
NM_001044.5(SLC6A3):c.150G>A (p.Pro50=)
|
rs6346
|
|
NM_001044.5(SLC6A3):c.1527G>C (p.Gln509His)
|
rs6880875
|
|
NM_001044.5(SLC6A3):c.1536C>T (p.Thr512=)
|
|
|
NM_001044.5(SLC6A3):c.1548C>T (p.Pro516=)
|
|
|
NM_001044.5(SLC6A3):c.1552C>G (p.Leu518Val)
|
|
|
NM_001044.5(SLC6A3):c.1554G>A (p.Leu518=)
|
|
|
NM_001044.5(SLC6A3):c.1569_1592delinsA (p.Cys523_Phe531delinsTer)
|
|
|
NM_001044.5(SLC6A3):c.1596C>T (p.Leu532=)
|
|
|
NM_001044.5(SLC6A3):c.1599+12C>G
|
rs150170183
|
|
NM_001044.5(SLC6A3):c.1600-9_1600-8delinsCT
|
rs2126324656
|
|
NM_001044.5(SLC6A3):c.1601T>G (p.Phe534Cys)
|
|
|
NM_001044.5(SLC6A3):c.1609G>A (p.Val537Met)
|
|
|
NM_001044.5(SLC6A3):c.1619T>C (p.Ile540Thr)
|
|
|
NM_001044.5(SLC6A3):c.1629C>T (p.Phe543=)
|
|
|
NM_001044.5(SLC6A3):c.162C>A (p.Pro54=)
|
|
|
NM_001044.5(SLC6A3):c.162C>G (p.Pro54=)
|
rs6351
|
|
NM_001044.5(SLC6A3):c.1633C>T (p.Pro545Ser)
|
|
|
NM_001044.5(SLC6A3):c.1639C>A (p.His547Asn)
|
rs781299950
|
|
NM_001044.5(SLC6A3):c.163G>T (p.Val55Leu)
|
|
|
NM_001044.5(SLC6A3):c.1648G>A (p.Ala550Thr)
|
rs1423226570
|
|
NM_001044.5(SLC6A3):c.1653C>T (p.Tyr551=)
|
|
|
NM_001044.5(SLC6A3):c.1674C>T (p.Asn558=)
|
|
|
NM_001044.5(SLC6A3):c.1675G>A (p.Ala559Thr)
|
|
|
NM_001044.5(SLC6A3):c.1676C>G (p.Ala559Gly)
|
|
|
NM_001044.5(SLC6A3):c.1677G>A (p.Ala559=)
|
rs767241571
|
|
NM_001044.5(SLC6A3):c.1693G>T (p.Ala565Ser)
|
|
|
NM_001044.5(SLC6A3):c.1698A>G (p.Thr566=)
|
|
|
NM_001044.5(SLC6A3):c.1725T>C (p.Tyr575=)
|
rs2126324184
|
|
NM_001044.5(SLC6A3):c.1767+14C>T
|
|
|
NM_001044.5(SLC6A3):c.1767+15G>A
|
|
|
NM_001044.5(SLC6A3):c.1767+16G>A
|
|
|
NM_001044.5(SLC6A3):c.1767+2T>C
|
rs2126324037
|
|
NM_001044.5(SLC6A3):c.1768-12T>C
|
|
|
NM_001044.5(SLC6A3):c.1768-7C>T
|
rs2126319630
|
|
NM_001044.5(SLC6A3):c.1768-7_1768-6del
|
rs781468421
|
|
NM_001044.5(SLC6A3):c.1775C>T (p.Ala592Val)
|
|
|
NM_001044.5(SLC6A3):c.1776C>G (p.Ala592=)
|
|
|
NM_001044.5(SLC6A3):c.178C>T (p.Arg60Trp)
|
rs1579729357
|
|
NM_001044.5(SLC6A3):c.1791C>T (p.Pro597=)
|
rs1310047234
|
|
NM_001044.5(SLC6A3):c.1792G>A (p.Glu598Lys)
|
|
|
NM_001044.5(SLC6A3):c.1794G>A (p.Glu598=)
|
|
|
NM_001044.5(SLC6A3):c.1806G>A (p.Glu602=)
|
rs2126319427
|
|
NM_001044.5(SLC6A3):c.180G>T (p.Arg60=)
|
|
|
NM_001044.5(SLC6A3):c.1812G>A (p.Val604=)
|
|
|
NM_001044.5(SLC6A3):c.1817G>A (p.Arg606Lys)
|
rs1755834750
|
|
NM_001044.5(SLC6A3):c.1839+15C>T
|
|
|
NM_001044.5(SLC6A3):c.1839+9_1839+14del
|
|
|
NM_001044.5(SLC6A3):c.1840-8C>A
|
rs755204020
|
|
NM_001044.5(SLC6A3):c.213G>A (p.Leu71=)
|
|
|
NM_001044.5(SLC6A3):c.215C>T (p.Ser72Phe)
|
rs1560928848
|
|
NM_001044.5(SLC6A3):c.217G>A (p.Val73Ile)
|
|
|
NM_001044.5(SLC6A3):c.21C>T (p.Ser7=)
|
|
|
NM_001044.5(SLC6A3):c.231T>C (p.Ala77=)
|
|
|
NM_001044.5(SLC6A3):c.246C>T (p.Asn82=)
|
|
|
NM_001044.5(SLC6A3):c.247G>A (p.Val83Ile)
|
|
|
NM_001044.5(SLC6A3):c.24G>A (p.Val8=)
|
|
|
NM_001044.5(SLC6A3):c.267G>A (p.Leu89=)
|
|
|
NM_001044.5(SLC6A3):c.286+10A>T
|
|
|
NM_001044.5(SLC6A3):c.286+16G>C
|
|
|
NM_001044.5(SLC6A3):c.286+18C>T
|
|
|
NM_001044.5(SLC6A3):c.286+6T>A
|
|
|
NM_001044.5(SLC6A3):c.286+8C>T
|
|
|
NM_001044.5(SLC6A3):c.287-13T>C
|
rs2126412495
|
|
NM_001044.5(SLC6A3):c.287-20G>C
|
|
|
NM_001044.5(SLC6A3):c.287-5C>G
|
|
|
NM_001044.5(SLC6A3):c.287-5C>T
|
|
|
NM_001044.5(SLC6A3):c.287-6C>T
|
|
|
NM_001044.5(SLC6A3):c.310C>A (p.Leu104Ile)
|
rs141740642
|
|
NM_001044.5(SLC6A3):c.366G>C (p.Gln122His)
|
rs1733660991
|
|
NM_001044.5(SLC6A3):c.376G>C (p.Glu126Gln)
|
rs746351989
|
|
NM_001044.5(SLC6A3):c.409A>G (p.Ile137Val)
|
rs1733660279
|
|
NM_001044.5(SLC6A3):c.418+16C>A
|
|
|
NM_001044.5(SLC6A3):c.418G>C (p.Gly140Arg)
|
rs1014165579
|
|
NM_001044.5(SLC6A3):c.419-12C>G
|
|
|
NM_001044.5(SLC6A3):c.419-16del
|
|
|
NM_001044.5(SLC6A3):c.419-5G>A
|
|
|
NM_001044.5(SLC6A3):c.419-5G>T
|
|
|
NM_001044.5(SLC6A3):c.432G>A (p.Thr144=)
|
|
|
NM_001044.5(SLC6A3):c.444C>T (p.Ile148=)
|
rs186229286
|
|
NM_001044.5(SLC6A3):c.457G>A (p.Gly153Ser)
|
|
|
NM_001044.5(SLC6A3):c.480C>T (p.Ile160=)
|
|
|
NM_001044.5(SLC6A3):c.493C>T (p.His165Tyr)
|
|
|
NM_001044.5(SLC6A3):c.50C>A (p.Pro17Gln)
|
|
|
NM_001044.5(SLC6A3):c.554A>G (p.Asn185Ser)
|
|
|
NM_001044.5(SLC6A3):c.57G>A (p.Lys19=)
|
rs1733721886
|
|
NM_001044.5(SLC6A3):c.584G>T (p.Gly195Val)
|
|
|
NM_001044.5(SLC6A3):c.586G>A (p.Asp196Asn)
|
rs2126394511
|
|
NM_001044.5(SLC6A3):c.605C>T (p.Ser202Leu)
|
rs149444784
|
|
NM_001044.5(SLC6A3):c.616G>C (p.Asp206His)
|
|
|
NM_001044.5(SLC6A3):c.625G>T (p.Gly209Trp)
|
|
|
NM_001044.5(SLC6A3):c.641C>T (p.Ala214Val)
|
|
|
NM_001044.5(SLC6A3):c.653+11G>A
|
|
|
NM_001044.5(SLC6A3):c.653+12T>C
|
|
|
NM_001044.5(SLC6A3):c.653+5G>A
|
rs1756726188
|
|
NM_001044.5(SLC6A3):c.654-17C>A
|
|
|
NM_001044.5(SLC6A3):c.654-18G>A
|
|
|
NM_001044.5(SLC6A3):c.654-3C>T
|
|
|
NM_001044.5(SLC6A3):c.654-8C>T
|
|
|
NM_001044.5(SLC6A3):c.660C>T (p.Gly220=)
|
|
|
NM_001044.5(SLC6A3):c.671T>C (p.Leu224Pro)
|
rs431905515
|
|
NM_001044.5(SLC6A3):c.678G>A (p.Gln226=)
|
|
|
NM_001044.5(SLC6A3):c.693C>T (p.Asp231=)
|
|
|
NM_001044.5(SLC6A3):c.69C>T (p.Ala23=)
|
|
|
NM_001044.5(SLC6A3):c.701G>T (p.Gly234Val)
|
|
|
NM_001044.5(SLC6A3):c.708G>A (p.Pro236=)
|
|
|
NM_001044.5(SLC6A3):c.71T>G (p.Val24Gly)
|
rs2126415795
|
|
NM_001044.5(SLC6A3):c.732G>A (p.Leu244=)
|
|
|
NM_001044.5(SLC6A3):c.741C>T (p.Val247=)
|
|
|
NM_001044.5(SLC6A3):c.744C>T (p.Ile248=)
|
|
|
NM_001044.5(SLC6A3):c.774C>T (p.Gly258=)
|
|
|
NM_001044.5(SLC6A3):c.792+18C>T
|
|
|
NM_001044.5(SLC6A3):c.792+4A>T
|
|
|
NM_001044.5(SLC6A3):c.792+9C>T
|
|
|
NM_001044.5(SLC6A3):c.793-16C>G
|
rs1756412005
|
|
NM_001044.5(SLC6A3):c.793-7C>T
|
|
|
NM_001044.5(SLC6A3):c.810C>G (p.Ala270=)
|
|
|
NM_001044.5(SLC6A3):c.81G>C (p.Lys27Asn)
|
rs915327713
|
|
NM_001044.5(SLC6A3):c.823G>A (p.Val275Met)
|
rs141056632
|
|
NM_001044.5(SLC6A3):c.837C>G (p.Ala279=)
|
rs2126368210
|
|
NM_001044.5(SLC6A3):c.84G>A (p.Glu28=)
|
|
|
NM_001044.5(SLC6A3):c.870C>T (p.Ala290=)
|
|
|
NM_001044.5(SLC6A3):c.875A>G (p.Asp292Gly)
|
|
|
NM_001044.5(SLC6A3):c.876C>A (p.Asp292Glu)
|
rs146615804
|
|
NM_001044.5(SLC6A3):c.876C>T (p.Asp292=)
|
rs146615804
|
|
NM_001044.5(SLC6A3):c.886G>A (p.Ala296Thr)
|
|
|
NM_001044.5(SLC6A3):c.892del (p.Tyr297_Leu298insTer)
|
rs1756409749
|
|
NM_001044.5(SLC6A3):c.897C>T (p.Ser299=)
|
|
|
NM_001044.5(SLC6A3):c.923C>T (p.Ala308Val)
|
rs373667971
|
|
NM_001044.5(SLC6A3):c.927+11T>A
|
|
|
NM_001044.5(SLC6A3):c.927+8_927+9del
|
|
|
NM_001044.5(SLC6A3):c.928-12C>G
|
|
|
NM_001044.5(SLC6A3):c.928-16C>T
|
|
|
NM_001044.5(SLC6A3):c.942G>A (p.Ala314=)
|
|
|
NM_001044.5(SLC6A3):c.960C>T (p.Phe320=)
|
rs1260915789
|
|
NM_001044.5(SLC6A3):c.963C>T (p.Ser321=)
|
|
|
NM_001044.5(SLC6A3):c.970G>A (p.Val324Met)
|
rs779887018
|
|
NM_001044.5(SLC6A3):c.990C>T (p.Ile330=)
|
|
|
NM_001044.5(SLC6A3):c.991G>C (p.Ala331Pro)
|
rs1756285412
|
|
NM_001044.5(SLC6A3):c.997T>G (p.Ser333Ala)
|
rs1756285211
|
|
NM_001103146.3(GIGYF2):c.1818C>G (p.Asp606Glu)
|
rs118203903
|
|
NM_001103146.3(GIGYF2):c.2146A>G (p.Thr716Ala)
|
rs1700885234
|
|
NM_001103146.3(GIGYF2):c.2489A>T (p.Glu830Val)
|
rs1327472255
|
|
NM_001103146.3(GIGYF2):c.3629_3630insGC (p.Gln1211fs)
|
rs371622656
|
|
NM_001127222.2(CACNA1A):c.7266_7271del (p.Ser2423_Gly2424del)
|
rs775428832
|
|
NM_001135674.2(SMIM19):c.-412G>A
|
rs1813237071
|
|
NM_001135674.2(SMIM19):c.-472A>C
|
rs1813229018
|
|
NM_001135674.2(SMIM19):c.-534C>G
|
rs1554579510
|
|
NM_001135674.2(SMIM19):c.-560dup
|
rs1554579488
|
|
NM_001135674.2(SMIM19):c.-564dup
|
rs1554579481
|
|
NM_001139517.1(PRKRA):c.27_28ins57 (p.?)
|
|
|
NM_001190836.2(DCTN1):c.-18-2073C>T
|
rs566961027
|
|
NM_001199107.2(TBC1D24):c.404C>T (p.Pro135Leu)
|
rs1057519630
|
|
NM_001256864.2(DNAJC6):c.1012G>C (p.Asp338His)
|
|
|
NM_001256864.2(DNAJC6):c.1041C>A (p.Ile347=)
|
|
|
NM_001256864.2(DNAJC6):c.117G>A (p.Gln39=)
|
|
|
NM_001256864.2(DNAJC6):c.1185G>A (p.Lys395=)
|
|
|
NM_001256864.2(DNAJC6):c.1269G>A (p.Gln423=)
|
rs2101607355
|
|
NM_001256864.2(DNAJC6):c.128C>T (p.Ala43Val)
|
|
|
NM_001256864.2(DNAJC6):c.1348T>G (p.Ser450Ala)
|
rs1645902989
|
|
NM_001256864.2(DNAJC6):c.1383A>G (p.Leu461=)
|
|
|
NM_001256864.2(DNAJC6):c.1388-18G>A
|
|
|
NM_001256864.2(DNAJC6):c.1431C>T (p.Tyr477=)
|
|
|
NM_001256864.2(DNAJC6):c.1446C>A (p.Phe482Leu)
|
rs1645906223
|
|
NM_001256864.2(DNAJC6):c.149C>T (p.Pro50Leu)
|
|
|
NM_001256864.2(DNAJC6):c.1504C>T (p.His502Tyr)
|
|
|
NM_001256864.2(DNAJC6):c.1569G>A (p.Pro523=)
|
|
|
NM_001256864.2(DNAJC6):c.156A>G (p.Arg52=)
|
|
|
NM_001256864.2(DNAJC6):c.164C>A (p.Pro55Gln)
|
rs916872480
|
|
NM_001256864.2(DNAJC6):c.1651C>A (p.Pro551Thr)
|
rs377495314
|
|
NM_001256864.2(DNAJC6):c.1662G>A (p.Val554=)
|
|
|
NM_001256864.2(DNAJC6):c.1666C>T (p.Leu556Phe)
|
rs1262741318
|
|
NM_001256864.2(DNAJC6):c.1741C>G (p.Leu581Val)
|
|
|
NM_001256864.2(DNAJC6):c.1794G>C (p.Gln598His)
|
rs2101614376
|
|
NM_001256864.2(DNAJC6):c.1817A>C (p.His606Pro)
|
rs199937139
|
|
NM_001256864.2(DNAJC6):c.1819C>A (p.Pro607Thr)
|
|
|
NM_001256864.2(DNAJC6):c.1824T>C (p.Ser608=)
|
|
|
NM_001256864.2(DNAJC6):c.1831G>A (p.Ala611Thr)
|
rs1015326337
|
|
NM_001256864.2(DNAJC6):c.1841A>G (p.Gln614Arg)
|
|
|
NM_001256864.2(DNAJC6):c.1845A>G (p.Ser615=)
|
rs2101614479
|
|
NM_001256864.2(DNAJC6):c.1856G>A (p.Arg619His)
|
rs139509177
|
|
NM_001256864.2(DNAJC6):c.1894G>C (p.Val632Leu)
|
|
|
NM_001256864.2(DNAJC6):c.194-13T>G
|
rs765899995
|
|
NM_001256864.2(DNAJC6):c.194-15T>G
|
|
|
NM_001256864.2(DNAJC6):c.194-6del
|
rs58549467
|
|
NM_001256864.2(DNAJC6):c.194-7_194-6del
|
|
|
NM_001256864.2(DNAJC6):c.1974C>T (p.Asn658=)
|
|
|
NM_001256864.2(DNAJC6):c.1982G>A (p.Ser661Asn)
|
rs2101618114
|
|
NM_001256864.2(DNAJC6):c.2025G>A (p.Ser675=)
|
|
|
NM_001256864.2(DNAJC6):c.2025G>T (p.Ser675=)
|
rs185245369
|
|
NM_001256864.2(DNAJC6):c.2038+3A>G
|
rs961974767
|
|
NM_001256864.2(DNAJC6):c.2039-4G>T
|
|
|
NM_001256864.2(DNAJC6):c.2106A>G (p.Pro702=)
|
|
|
NM_001256864.2(DNAJC6):c.2107+11G>T
|
|
|
NM_001256864.2(DNAJC6):c.2107+8_2107+10del
|
rs1199919797
|
|
NM_001256864.2(DNAJC6):c.210C>T (p.Asp70=)
|
|
|
NM_001256864.2(DNAJC6):c.2119A>G (p.Met707Val)
|
|
|
NM_001256864.2(DNAJC6):c.2130G>A (p.Lys710=)
|
|
|
NM_001256864.2(DNAJC6):c.2205T>G (p.Pro735=)
|
|
|
NM_001256864.2(DNAJC6):c.2228-17T>A
|
rs2101634939
|
|
NM_001256864.2(DNAJC6):c.2235T>C (p.Ser745=)
|
|
|
NM_001256864.2(DNAJC6):c.2255C>T (p.Thr752Ile)
|
rs2101635055
|
|
NM_001256864.2(DNAJC6):c.2309C>T (p.Ala770Val)
|
|
|
NM_001256864.2(DNAJC6):c.2351C>T (p.Ala784Val)
|
|
|
NM_001256864.2(DNAJC6):c.2365C>T (p.Gln789Ter)
|
rs2101635253
|
|
NM_001256864.2(DNAJC6):c.2370A>C (p.Pro790=)
|
|
|
NM_001256864.2(DNAJC6):c.2410C>T (p.Gln804Ter)
|
rs398122405
|
|
NM_001256864.2(DNAJC6):c.2416C>T (p.Arg806Ter)
|
rs1646073230
|
|
NM_001256864.2(DNAJC6):c.2456dup (p.Gln820fs)
|
rs2101635447
|
|
NM_001256864.2(DNAJC6):c.2468G>C (p.Arg823Pro)
|
rs201984806
|
|
NM_001256864.2(DNAJC6):c.2476G>A (p.Gly826Arg)
|
|
|
NM_001256864.2(DNAJC6):c.2506G>T (p.Ala836Ser)
|
|
|
NM_001256864.2(DNAJC6):c.2536C>T (p.Gln846Ter)
|
rs886039854
|
|
NM_001256864.2(DNAJC6):c.2553C>G (p.His851Gln)
|
|
|
NM_001256864.2(DNAJC6):c.2570del (p.Pro857fs)
|
|
|
NM_001256864.2(DNAJC6):c.2594A>G (p.Lys865Arg)
|
|
|
NM_001256864.2(DNAJC6):c.2634+18C>T
|
|
|
NM_001256864.2(DNAJC6):c.2643A>G (p.Glu881=)
|
|
|
NM_001256864.2(DNAJC6):c.2689A>T (p.Met897Leu)
|
|
|
NM_001256864.2(DNAJC6):c.270C>T (p.Leu90=)
|
|
|
NM_001256864.2(DNAJC6):c.2715G>C (p.Glu905Asp)
|
rs201708707
|
|
NM_001256864.2(DNAJC6):c.2779A>G (p.Arg927Gly)
|
rs879255630
|
|
NM_001256864.2(DNAJC6):c.2790C>T (p.Val930=)
|
|
|
NM_001256864.2(DNAJC6):c.2799G>A (p.Val933=)
|
rs764156036
|
|
NM_001256864.2(DNAJC6):c.2846T>C (p.Met949Thr)
|
|
|
NM_001256864.2(DNAJC6):c.32C>T (p.Thr11Ile)
|
rs2101357416
|
|
NM_001256864.2(DNAJC6):c.344+12C>T
|
|
|
NM_001256864.2(DNAJC6):c.344+6C>T
|
|
|
NM_001256864.2(DNAJC6):c.454C>T (p.Arg152Ter)
|
rs864622011
|
|
NM_001256864.2(DNAJC6):c.49G>T (p.Glu17Ter)
|
rs1219237924
|
|
NM_001256864.2(DNAJC6):c.507A>G (p.Ser169=)
|
rs2101558882
|
|
NM_001256864.2(DNAJC6):c.542G>A (p.Arg181Gln)
|
|
|
NM_001256864.2(DNAJC6):c.543+10T>G
|
|
|
NM_001256864.2(DNAJC6):c.544-20C>T
|
|
|
NM_001256864.2(DNAJC6):c.666+10C>G
|
rs373591833
|
|
NM_001256864.2(DNAJC6):c.666+1G>A
|
|
|
NM_001256864.2(DNAJC6):c.677_678dup (p.Ala227fs)
|
rs1645848679
|
|
NM_001256864.2(DNAJC6):c.700G>A (p.Ala234Thr)
|
|
|
NM_001256864.2(DNAJC6):c.750A>T (p.Arg250=)
|
rs2101597985
|
|
NM_001256864.2(DNAJC6):c.766C>T (p.Arg256Ter)
|
rs745630837
|
|
NM_001256864.2(DNAJC6):c.789A>T (p.Pro263=)
|
|
|
NM_001256864.2(DNAJC6):c.79G>T (p.Asp27Tyr)
|
|
|
NM_001256864.2(DNAJC6):c.801-14A>C
|
rs758557034
|
|
NM_001256864.2(DNAJC6):c.801-2A>G
|
rs398122404
|
|
NM_001256864.2(DNAJC6):c.809G>A (p.Gly270Asp)
|
rs1645865223
|
|
NM_001256864.2(DNAJC6):c.839C>T (p.Pro280Leu)
|
rs774319050
|
|
NM_001256864.2(DNAJC6):c.83T>C (p.Leu28Ser)
|
|
|
NM_001256864.2(DNAJC6):c.845G>A (p.Arg282His)
|
|
|
NM_001256864.2(DNAJC6):c.876G>A (p.Ser292=)
|
|
|
NM_001256864.2(DNAJC6):c.973T>C (p.Cys325Arg)
|
rs1436860964
|
|
NM_001256864.2(DNAJC6):c.988C>T (p.Arg330Ter)
|
rs1645867120
|
|
NM_001256864.2(DNAJC6):c.995+16T>C
|
rs1254823370
|
|
NM_001256864.2(DNAJC6):c.996-14G>T
|
|
|
NM_001256864.2(DNAJC6):c.996-15G>T
|
|
|
NM_001257180.2(SLC20A2):c.*1320C>T
|
rs963612970
|
|
NM_001257180.2(SLC20A2):c.*171G>A
|
rs908206225
|
|
NM_001257180.2(SLC20A2):c.*538C>T
|
rs746914329
|
|
NM_001257180.2(SLC20A2):c.*660T>C
|
rs1211116059
|
|
NM_001257180.2(SLC20A2):c.*70C>T
|
rs371247567
|
|
NM_001257180.2(SLC20A2):c.-181T>A
|
rs780358007
|
|
NM_001257180.2(SLC20A2):c.1090G>A (p.Asp364Asn)
|
rs748895007
|
|
NM_001257180.2(SLC20A2):c.1144C>T (p.Arg382Ter)
|
rs2131006903
|
|
NM_001257180.2(SLC20A2):c.1158C>G (p.Tyr386Ter)
|
|
|
NM_001257180.2(SLC20A2):c.1196A>C (p.His399Pro)
|
rs1563453866
|
|
NM_001257180.2(SLC20A2):c.1274AGA[1] (p.Lys426del)
|
|
|
NM_001257180.2(SLC20A2):c.1338G>C (p.Glu446Asp)
|
rs374973821
|
|
NM_001257180.2(SLC20A2):c.136C>T (p.Gln46Ter)
|
rs751093906
|
|
NM_001257180.2(SLC20A2):c.1375G>T (p.Glu459Ter)
|
rs1563452941
|
|
NM_001257180.2(SLC20A2):c.1438_1439del (p.Ala480fs)
|
|
|
NM_001257180.2(SLC20A2):c.1492G>A (p.Gly498Arg)
|
rs1586022262
|
|
NM_001257180.2(SLC20A2):c.1520_1521del (p.Val507fs)
|
rs1563452322
|
|
NM_001257180.2(SLC20A2):c.1576G>T (p.Val526Leu)
|
rs1420760497
|
|
NM_001257180.2(SLC20A2):c.1637_1638del (p.Thr546fs)
|
|
|
NM_001257180.2(SLC20A2):c.165_169del (p.Glu55fs)
|
rs2131227624
|
|
NM_001257180.2(SLC20A2):c.1723G>A (p.Glu575Lys)
|
rs387906653
|
|
NM_001257180.2(SLC20A2):c.1723G>T (p.Glu575Ter)
|
rs387906653
|
|
NM_001257180.2(SLC20A2):c.1784C>T (p.Thr595Met)
|
rs387906654
|
|
NM_001257180.2(SLC20A2):c.1795-1G>A
|
rs1563431044
|
|
NM_001257180.2(SLC20A2):c.1802C>G (p.Ser601Trp)
|
rs387906652
|
|
NM_001257180.2(SLC20A2):c.1802C>T (p.Ser601Leu)
|
rs387906652
|
|
NM_001257180.2(SLC20A2):c.1828_1831del (p.Ser610fs)
|
rs398122396
|
|
NM_001257180.2(SLC20A2):c.1845C>G (p.Asp615Glu)
|
rs2130905407
|
|
NM_001257180.2(SLC20A2):c.185T>C (p.Leu62Pro)
|
|
|
NM_001257180.2(SLC20A2):c.187G>A (p.Gly63Ser)
|
rs1563497719
|
|
NM_001257180.2(SLC20A2):c.188G>A (p.Gly63Asp)
|
rs1563497714
|
|
NM_001257180.2(SLC20A2):c.1933A>G (p.Met645Val)
|
|
|
NM_001257180.2(SLC20A2):c.218G>T (p.Gly73Val)
|
rs200620922
|
|
NM_001257180.2(SLC20A2):c.21del (p.Leu7fs)
|
rs1563498184
|
|
NM_001257180.2(SLC20A2):c.290-1G>A
|
rs2131192653
|
|
NM_001257180.2(SLC20A2):c.290-8A>G
|
|
|
NM_001257180.2(SLC20A2):c.303del (p.Trp101fs)
|
rs1563490467
|
|
NM_001257180.2(SLC20A2):c.344C>A (p.Thr115Lys)
|
|
|
NM_001257180.2(SLC20A2):c.509del (p.Ile169_Leu170insTer)
|
rs398122395
|
|
NM_001257180.2(SLC20A2):c.553G>C (p.Val185Leu)
|
rs188325552
|
|
NM_001257180.2(SLC20A2):c.583_584del (p.Val195fs)
|
rs398122397
|
|
NM_001257180.2(SLC20A2):c.58_62del (p.Ala21fs)
|
|
|
NM_001257180.2(SLC20A2):c.601A>G (p.Thr201Ala)
|
|
|
NM_001257180.2(SLC20A2):c.69T>A (p.Ser23=)
|
rs556568855
|
|
NM_001257180.2(SLC20A2):c.731-18_738del
|
rs1234999465
|
|
NM_001257180.2(SLC20A2):c.787G>A (p.Val263Ile)
|
rs369823081
|
|
NM_001257180.2(SLC20A2):c.80_92del (p.Asn27fs)
|
rs2131228068
|
|
NM_001257180.2(SLC20A2):c.834G>A (p.Lys278=)
|
rs778920007
|
|
NM_001257180.2(SLC20A2):c.852del (p.Ile285fs)
|
|
|
NM_001257180.2(SLC20A2):c.857C>G (p.Pro286Arg)
|
rs781554326
|
|
NM_001257180.2(SLC20A2):c.935-2A>G
|
rs1586025869
|
|
NM_001257180.2(SLC20A2):c.971C>T (p.Ser324Leu)
|
rs886041752
|
|
NM_001257180.2(SLC20A2):c.99del (p.Phe33fs)
|
rs1807706006
|
|
NM_001363711.2(DUOX2):c.3596T>C (p.Leu1199Pro)
|
rs997825421
|
|
NM_001376929.1(SLC30A10):c.254C>T (p.Thr85Ile)
|
|
|
NM_001377265.1(MAPT):c.2013T>G (p.Asn671Lys)
|
rs63750756
|
|
NM_001377265.1(MAPT):c.2060ATA[1] (p.Asn688del)
|
rs63751392
|
|
NM_001377265.1(MAPT):c.2078C>T (p.Pro693Leu)
|
rs63751273
|
|
NM_001377265.1(MAPT):c.47G>T (p.Gly16Val)
|
rs755131800
|
|
NM_001382273.1(TNK2):c.1957G>A (p.Val653Met)
|
rs201407161
|
|
NM_002087.4(GRN):c.52A>G (p.Thr18Ala)
|
rs1003823098
|
|
NM_002608.4(PDGFB):c.-318C>T
|
|
|
NM_002608.4(PDGFB):c.-373C>G
|
|
|
NM_002608.4(PDGFB):c.1A>G (p.Met1Val)
|
rs1932632616
|
|
NM_002608.4(PDGFB):c.298C>T (p.Arg100Cys)
|
rs1180781773
|
|
NM_002608.4(PDGFB):c.356T>C (p.Leu119Pro)
|
rs397515632
|
|
NM_002608.4(PDGFB):c.3G>A (p.Met1Ile)
|
rs398122399
|
|
NM_002608.4(PDGFB):c.434A>C (p.Gln145Pro)
|
|
|
NM_002608.4(PDGFB):c.445C>T (p.Arg149Ter)
|
rs397515633
|
|
NM_002608.4(PDGFB):c.598C>T (p.Arg200Ter)
|
rs1932260742
|
|
NM_002608.4(PDGFB):c.70C>A (p.Pro24Thr)
|
|
|
NM_002608.4(PDGFB):c.71C>A (p.Pro24His)
|
rs1242118984
|
|
NM_002608.4(PDGFB):c.726G>C (p.Ter242Tyr)
|
rs398122398
|
|
NM_002609.4(PDGFRB):c.1008G>A (p.Leu336=)
|
|
|
NM_002609.4(PDGFRB):c.1034C>T (p.Pro345Leu)
|
|
|
NM_002609.4(PDGFRB):c.1057G>C (p.Asp353His)
|
|
|
NM_002609.4(PDGFRB):c.1063C>T (p.Arg355Cys)
|
|
|
NM_002609.4(PDGFRB):c.1089C>T (p.Gly363=)
|
|
|
NM_002609.4(PDGFRB):c.1096G>A (p.Ala366Thr)
|
|
|
NM_002609.4(PDGFRB):c.1109G>A (p.Arg370His)
|
|
|
NM_002609.4(PDGFRB):c.1127+17C>G
|
|
|
NM_002609.4(PDGFRB):c.1127+7A>G
|
|
|
NM_002609.4(PDGFRB):c.1127G>A (p.Arg376Gln)
|
|
|
NM_002609.4(PDGFRB):c.1155C>T (p.Arg385=)
|
|
|
NM_002609.4(PDGFRB):c.1156G>C (p.Val386Leu)
|
|
|
NM_002609.4(PDGFRB):c.1176C>T (p.Gly392=)
|
|
|
NM_002609.4(PDGFRB):c.1189C>T (p.Arg397Trp)
|
|
|
NM_002609.4(PDGFRB):c.11C>T (p.Pro4Leu)
|
|
|
NM_002609.4(PDGFRB):c.1243+12G>A
|
|
|
NM_002609.4(PDGFRB):c.1244-4G>A
|
rs1580805805
|
|
NM_002609.4(PDGFRB):c.1244-5T>C
|
|
|
NM_002609.4(PDGFRB):c.1253G>A (p.Arg418Gln)
|
|
|
NM_002609.4(PDGFRB):c.1278C>A (p.His426Gln)
|
|
|
NM_002609.4(PDGFRB):c.1302C>G (p.Val434=)
|
|
|
NM_002609.4(PDGFRB):c.1332G>A (p.Pro444=)
|
|
|
NM_002609.4(PDGFRB):c.1332G>C (p.Pro444=)
|
|
|
NM_002609.4(PDGFRB):c.1346C>T (p.Ser449Phe)
|
rs1312583190
|
|
NM_002609.4(PDGFRB):c.1360C>T (p.Leu454Phe)
|
|
|
NM_002609.4(PDGFRB):c.1367+20A>G
|
|
|
NM_002609.4(PDGFRB):c.1368-14G>A
|
|
|
NM_002609.4(PDGFRB):c.1399G>A (p.Gly467Arg)
|
|
|
NM_002609.4(PDGFRB):c.1438G>A (p.Val480Met)
|
|
|
NM_002609.4(PDGFRB):c.1442C>T (p.Thr481Met)
|
|
|
NM_002609.4(PDGFRB):c.1487G>A (p.Arg496His)
|
|
|
NM_002609.4(PDGFRB):c.1494G>A (p.Gln498=)
|
|
|
NM_002609.4(PDGFRB):c.1497C>T (p.His499=)
|
|
|
NM_002609.4(PDGFRB):c.1527G>A (p.Thr509=)
|
|
|
NM_002609.4(PDGFRB):c.1527G>T (p.Thr509=)
|
rs750725462
|
|
NM_002609.4(PDGFRB):c.1531C>T (p.Arg511Cys)
|
|
|
NM_002609.4(PDGFRB):c.1535A>G (p.Asn512Ser)
|
|
|
NM_002609.4(PDGFRB):c.1537G>A (p.Ala513Thr)
|
|
|
NM_002609.4(PDGFRB):c.1540G>A (p.Val514Met)
|
|
|
NM_002609.4(PDGFRB):c.1553C>T (p.Thr518Met)
|
|
|
NM_002609.4(PDGFRB):c.1554G>A (p.Thr518=)
|
|
|
NM_002609.4(PDGFRB):c.1554G>T (p.Thr518=)
|
rs371192118
|
|
NM_002609.4(PDGFRB):c.1563C>T (p.Val521=)
|
rs1580804718
|
|
NM_002609.4(PDGFRB):c.1566C>T (p.Ile522=)
|
|
|
NM_002609.4(PDGFRB):c.1567G>A (p.Val523Met)
|
|
|
NM_002609.4(PDGFRB):c.1579+10C>T
|
rs571420039
|
|
NM_002609.4(PDGFRB):c.1580-8G>A
|
|
|
NM_002609.4(PDGFRB):c.1629G>A (p.Val543=)
|
|
|
NM_002609.4(PDGFRB):c.1630C>T (p.Leu544Phe)
|
rs2113898287
|
|
NM_002609.4(PDGFRB):c.1660A>G (p.Met554Val)
|
|
|
NM_002609.4(PDGFRB):c.1663C>G (p.Leu555Val)
|
|
|
NM_002609.4(PDGFRB):c.1674+9C>G
|
rs1231443369
|
|
NM_002609.4(PDGFRB):c.1675-14G>T
|
|
|
NM_002609.4(PDGFRB):c.1675-17T>G
|
|
|
NM_002609.4(PDGFRB):c.1675-4C>T
|
|
|
NM_002609.4(PDGFRB):c.1679C>T (p.Pro560Leu)
|
|
|
NM_002609.4(PDGFRB):c.1686C>G (p.Tyr562Ter)
|
rs570202484
|
|
NM_002609.4(PDGFRB):c.1714G>A (p.Val572Met)
|
rs2113897117
|
|
NM_002609.4(PDGFRB):c.1734G>A (p.Glu578=)
|
rs2113897064
|
|
NM_002609.4(PDGFRB):c.1762C>T (p.Pro588Ser)
|
|
|
NM_002609.4(PDGFRB):c.1766A>G (p.Tyr589Cys)
|
rs1760269359
|
|
NM_002609.4(PDGFRB):c.176C>T (p.Pro59Leu)
|
rs202213873
|
|
NM_002609.4(PDGFRB):c.1775C>A (p.Thr592Lys)
|
|
|
NM_002609.4(PDGFRB):c.1775C>T (p.Thr592Met)
|
|
|
NM_002609.4(PDGFRB):c.1776G>A (p.Thr592=)
|
rs367951719
|
|
NM_002609.4(PDGFRB):c.1776G>T (p.Thr592=)
|
|
|
NM_002609.4(PDGFRB):c.177G>A (p.Pro59=)
|
|
|
NM_002609.4(PDGFRB):c.1788G>A (p.Pro596=)
|
|
|
NM_002609.4(PDGFRB):c.1788G>T (p.Pro596=)
|
|
|
NM_002609.4(PDGFRB):c.17C>G (p.Ala6Gly)
|
|
|
NM_002609.4(PDGFRB):c.1842G>A (p.Val614=)
|
|
|
NM_002609.4(PDGFRB):c.1883C>T (p.Thr628Met)
|
|
|
NM_002609.4(PDGFRB):c.1896C>T (p.Ala632=)
|
|
|
NM_002609.4(PDGFRB):c.1913-10T>A
|
|
|
NM_002609.4(PDGFRB):c.1913-16C>G
|
|
|
NM_002609.4(PDGFRB):c.191G>A (p.Arg64Gln)
|
|
|
NM_002609.4(PDGFRB):c.1938A>G (p.Gln646=)
|
|
|
NM_002609.4(PDGFRB):c.1958A>G (p.Lys653Arg)
|
|
|
NM_002609.4(PDGFRB):c.1973T>C (p.Leu658Pro)
|
rs397509381
|
|
NM_002609.4(PDGFRB):c.1989C>T (p.Asn663=)
|
|
|
NM_002609.4(PDGFRB):c.2023+16C>T
|
|
|
NM_002609.4(PDGFRB):c.2023+6G>A
|
|
|
NM_002609.4(PDGFRB):c.2054G>A (p.Arg685His)
|
|
|
NM_002609.4(PDGFRB):c.2062G>C (p.Asp688His)
|
|
|
NM_002609.4(PDGFRB):c.2070G>A (p.Val690=)
|
|
|
NM_002609.4(PDGFRB):c.2083C>T (p.Arg695Cys)
|
rs138008832
|
|
NM_002609.4(PDGFRB):c.2084G>A (p.Arg695His)
|
|
|
NM_002609.4(PDGFRB):c.2094dup (p.Thr699fs)
|
|
|
NM_002609.4(PDGFRB):c.2115C>T (p.Ser705=)
|
|
|
NM_002609.4(PDGFRB):c.2116G>T (p.Asp706Tyr)
|
rs770635073
|
|
NM_002609.4(PDGFRB):c.2122C>T (p.Arg708Cys)
|
|
|
NM_002609.4(PDGFRB):c.2129C>T (p.Pro710Leu)
|
|
|
NM_002609.4(PDGFRB):c.2163C>T (p.Pro721=)
|
|
|
NM_002609.4(PDGFRB):c.2164G>A (p.Val722Ile)
|
|
|
NM_002609.4(PDGFRB):c.2164G>T (p.Val722Phe)
|
rs142689325
|
|
NM_002609.4(PDGFRB):c.2169G>T (p.Gly723=)
|
rs961398213
|
|
NM_002609.4(PDGFRB):c.2183+18A>G
|
|
|
NM_002609.4(PDGFRB):c.2183+19G>A
|
|
|
NM_002609.4(PDGFRB):c.2184-7C>T
|
|
|
NM_002609.4(PDGFRB):c.2191T>G (p.Ser731Ala)
|
|
|
NM_002609.4(PDGFRB):c.2200G>A (p.Gly734Arg)
|
|
|
NM_002609.4(PDGFRB):c.2208C>T (p.Ser736=)
|
|
|
NM_002609.4(PDGFRB):c.2212G>A (p.Gly738Ser)
|
|
|
NM_002609.4(PDGFRB):c.2235G>C (p.Lys745Asn)
|
rs1760151971
|
|
NM_002609.4(PDGFRB):c.2243C>T (p.Ser748Leu)
|
|
|
NM_002609.4(PDGFRB):c.225G>A (p.Lys75=)
|
|
|
NM_002609.4(PDGFRB):c.2270T>C (p.Met757Thr)
|
|
|
NM_002609.4(PDGFRB):c.2276G>A (p.Gly759Glu)
|
|
|
NM_002609.4(PDGFRB):c.2280C>T (p.Asp760=)
|
|
|
NM_002609.4(PDGFRB):c.2281G>A (p.Val761Ile)
|
|
|
NM_002609.4(PDGFRB):c.2281G>C (p.Val761Leu)
|
|
|
NM_002609.4(PDGFRB):c.2298C>T (p.Ile766=)
|
|
|
NM_002609.4(PDGFRB):c.2328T>A (p.Asp776Glu)
|
|
|
NM_002609.4(PDGFRB):c.2345-18C>T
|
|
|
NM_002609.4(PDGFRB):c.2360G>A (p.Cys787Tyr)
|
rs2113890060
|
|
NM_002609.4(PDGFRB):c.2380G>A (p.Glu794Lys)
|
|
|
NM_002609.4(PDGFRB):c.2386C>T (p.Pro796Ser)
|
|
|
NM_002609.4(PDGFRB):c.2394A>C (p.Leu798=)
|
|
|
NM_002609.4(PDGFRB):c.2402T>C (p.Met801Thr)
|
rs1760125256
|
|
NM_002609.4(PDGFRB):c.2464-19C>G
|
|
|
NM_002609.4(PDGFRB):c.2483C>A (p.Ala828Glu)
|
|
|
NM_002609.4(PDGFRB):c.2483C>T (p.Ala828Val)
|
|
|
NM_002609.4(PDGFRB):c.2499C>A (p.Leu833=)
|
|
|
NM_002609.4(PDGFRB):c.250G>A (p.Val84Met)
|
|
|
NM_002609.4(PDGFRB):c.2557C>A (p.Arg853=)
|
|
|
NM_002609.4(PDGFRB):c.2559G>A (p.Arg853=)
|
|
|
NM_002609.4(PDGFRB):c.2586+13C>T
|
|
|
NM_002609.4(PDGFRB):c.2586+20C>A
|
|
|
NM_002609.4(PDGFRB):c.2586+20C>G
|
|
|
NM_002609.4(PDGFRB):c.259C>T (p.Leu87=)
|
|
|
NM_002609.4(PDGFRB):c.2635C>A (p.Leu879Ile)
|
|
|
NM_002609.4(PDGFRB):c.2653G>A (p.Asp885Asn)
|
|
|
NM_002609.4(PDGFRB):c.2667C>T (p.Phe889=)
|
|
|
NM_002609.4(PDGFRB):c.2698+1G>T
|
|
|
NM_002609.4(PDGFRB):c.2714C>T (p.Pro905Leu)
|
|
|
NM_002609.4(PDGFRB):c.2741A>G (p.Tyr914Cys)
|
|
|
NM_002609.4(PDGFRB):c.2756G>A (p.Arg919Gln)
|
|
|
NM_002609.4(PDGFRB):c.2791G>A (p.Asp931Asn)
|
|
|
NM_002609.4(PDGFRB):c.2798+10G>A
|
|
|
NM_002609.4(PDGFRB):c.2811G>A (p.Met937Ile)
|
|
|
NM_002609.4(PDGFRB):c.2855C>G (p.Ser952Cys)
|
|
|
NM_002609.4(PDGFRB):c.285G>A (p.Thr95=)
|
|
|
NM_002609.4(PDGFRB):c.2872C>G (p.Leu958Val)
|
rs1321037719
|
|
NM_002609.4(PDGFRB):c.2874C>T (p.Leu958=)
|
rs773161073
|
|
NM_002609.4(PDGFRB):c.2904+15G>A
|
|
|
NM_002609.4(PDGFRB):c.2905-19C>G
|
|
|
NM_002609.4(PDGFRB):c.2905-1G>T
|
|
|
NM_002609.4(PDGFRB):c.2905-8G>A
|
rs201866603
|
|
NM_002609.4(PDGFRB):c.2905-8G>C
|
|
|
NM_002609.4(PDGFRB):c.2909A>C (p.Tyr970Ser)
|
|
|
NM_002609.4(PDGFRB):c.2939G>A (p.Ser980Asn)
|
rs1561984983
|
|
NM_002609.4(PDGFRB):c.2970C>T (p.Ala990=)
|
|
|
NM_002609.4(PDGFRB):c.2971C>T (p.Arg991Cys)
|
|
|
NM_002609.4(PDGFRB):c.2976G>A (p.Leu992=)
|
|
|
NM_002609.4(PDGFRB):c.3018C>T (p.Ser1006=)
|
|
|
NM_002609.4(PDGFRB):c.3026A>G (p.Tyr1009Cys)
|
|
|
NM_002609.4(PDGFRB):c.3029C>T (p.Thr1010Ile)
|
|
|
NM_002609.4(PDGFRB):c.3057C>T (p.Asn1019=)
|
|
|
NM_002609.4(PDGFRB):c.3058G>A (p.Asp1020Asn)
|
|
|
NM_002609.4(PDGFRB):c.3069C>T (p.Ile1023=)
|
rs2113883671
|
|
NM_002609.4(PDGFRB):c.3126C>A (p.Pro1042=)
|
|
|
NM_002609.4(PDGFRB):c.3137+13G>T
|
rs2113883431
|
|
NM_002609.4(PDGFRB):c.3137+15C>T
|
|
|
NM_002609.4(PDGFRB):c.3138-11C>G
|
|
|
NM_002609.4(PDGFRB):c.3139T>C (p.Ser1047Pro)
|
|
|
NM_002609.4(PDGFRB):c.3145C>T (p.Leu1049=)
|
|
|
NM_002609.4(PDGFRB):c.3165C>T (p.Ser1055=)
|
|
|
NM_002609.4(PDGFRB):c.3181G>A (p.Asp1061Asn)
|
|
|
NM_002609.4(PDGFRB):c.3187C>A (p.Pro1063Thr)
|
|
|
NM_002609.4(PDGFRB):c.3205G>A (p.Glu1069Lys)
|
|
|
NM_002609.4(PDGFRB):c.3241G>A (p.Glu1081Lys)
|
rs1554107047
|
|
NM_002609.4(PDGFRB):c.3256_3257insCGGAGC (p.Glu1085_Leu1086insProGlu)
|
|
|
NM_002609.4(PDGFRB):c.3274T>A (p.Ser1092Thr)
|
|
|
NM_002609.4(PDGFRB):c.3275C>T (p.Ser1092Leu)
|
|
|
NM_002609.4(PDGFRB):c.3279G>T (p.Gly1093=)
|
|
|
NM_002609.4(PDGFRB):c.3288G>A (p.Ala1096=)
|
|
|
NM_002609.4(PDGFRB):c.3296C>T (p.Ala1099Val)
|
|
|
NM_002609.4(PDGFRB):c.337C>T (p.Arg113Trp)
|
|
|
NM_002609.4(PDGFRB):c.338G>A (p.Arg113Gln)
|
|
|
NM_002609.4(PDGFRB):c.344G>A (p.Arg115Gln)
|
|
|
NM_002609.4(PDGFRB):c.351C>T (p.Tyr117=)
|
|
|
NM_002609.4(PDGFRB):c.360G>T (p.Val120=)
|
|
|
NM_002609.4(PDGFRB):c.364+15C>G
|
|
|
NM_002609.4(PDGFRB):c.365-13C>T
|
|
|
NM_002609.4(PDGFRB):c.365-5G>C
|
|
|
NM_002609.4(PDGFRB):c.370A>G (p.Thr124Ala)
|
|
|
NM_002609.4(PDGFRB):c.373G>A (p.Val125Met)
|
|
|
NM_002609.4(PDGFRB):c.377G>C (p.Gly126Ala)
|
|
|
NM_002609.4(PDGFRB):c.390T>C (p.Asn130=)
|
|
|
NM_002609.4(PDGFRB):c.396C>T (p.Ala132=)
|
rs751600349
|
|
NM_002609.4(PDGFRB):c.40+16A>G
|
|
|
NM_002609.4(PDGFRB):c.40+19_40+23del
|
|
|
NM_002609.4(PDGFRB):c.449G>A (p.Arg150Gln)
|
|
|
NM_002609.4(PDGFRB):c.460C>T (p.Pro154Ser)
|
|
|
NM_002609.4(PDGFRB):c.461C>G (p.Pro154Arg)
|
|
|
NM_002609.4(PDGFRB):c.462A>G (p.Pro154=)
|
|
|
NM_002609.4(PDGFRB):c.468G>A (p.Leu156=)
|
|
|
NM_002609.4(PDGFRB):c.483C>T (p.His161=)
|
|
|
NM_002609.4(PDGFRB):c.484G>A (p.Glu162Lys)
|
rs1562011077
|
|
NM_002609.4(PDGFRB):c.48G>A (p.Leu16=)
|
|
|
NM_002609.4(PDGFRB):c.4C>T (p.Arg2Trp)
|
|
|
NM_002609.4(PDGFRB):c.511G>T (p.Val171Phe)
|
|
|
NM_002609.4(PDGFRB):c.529C>T (p.Arg177Cys)
|
|
|
NM_002609.4(PDGFRB):c.542G>C (p.Gly181Ala)
|
|
|
NM_002609.4(PDGFRB):c.575C>G (p.Thr192Ser)
|
|
|
NM_002609.4(PDGFRB):c.575C>T (p.Thr192Ile)
|
|
|
NM_002609.4(PDGFRB):c.624A>C (p.Arg208Ser)
|
|
|
NM_002609.4(PDGFRB):c.631+1G>A
|
rs111491260
|
|
NM_002609.4(PDGFRB):c.645C>T (p.Asn215=)
|
|
|
NM_002609.4(PDGFRB):c.646G>C (p.Val216Leu)
|
|
|
NM_002609.4(PDGFRB):c.735C>T (p.Phe245=)
|
rs765554311
|
|
NM_002609.4(PDGFRB):c.745T>C (p.Tyr249His)
|
|
|
NM_002609.4(PDGFRB):c.760-10G>T
|
|
|
NM_002609.4(PDGFRB):c.779C>T (p.Pro260Leu)
|
|
|
NM_002609.4(PDGFRB):c.805C>G (p.Pro269Ala)
|
|
|
NM_002609.4(PDGFRB):c.817C>T (p.Arg273Cys)
|
|
|
NM_002609.4(PDGFRB):c.843C>T (p.Ala281=)
|
|
|
NM_002609.4(PDGFRB):c.844G>A (p.Glu282Lys)
|
|
|
NM_002609.4(PDGFRB):c.882G>A (p.Thr294=)
|
|
|
NM_002609.4(PDGFRB):c.882G>T (p.Thr294=)
|
|
|
NM_002609.4(PDGFRB):c.921C>T (p.Asn307=)
|
|
|
NM_002609.4(PDGFRB):c.935-15G>A
|
|
|
NM_002609.4(PDGFRB):c.935-5T>C
|
|
|
NM_002609.4(PDGFRB):c.935-9C>T
|
|
|
NM_002609.4(PDGFRB):c.938G>A (p.Ser313Asn)
|
|
|
NM_002609.4(PDGFRB):c.949C>T (p.Arg317Trp)
|
|
|
NM_002609.4(PDGFRB):c.950G>A (p.Arg317Gln)
|
|
|
NM_002609.4(PDGFRB):c.971C>T (p.Thr324Ile)
|
|
|
NM_002609.4(PDGFRB):c.991C>T (p.His331Tyr)
|
|
|
NM_002609.4(PDGFRB):c.994C>T (p.Arg332Trp)
|
|
|
NM_002973.4(ATXN2):c.16CAG[33_?] (p.6Gln[33_?])
|
rs1885090126
|
|
NM_003054.6(SLC18A2):c.1160C>T (p.Pro387Leu)
|
rs1392638187
|
|
NM_003054.6(SLC18A2):c.1196A>C (p.Asp399Ala)
|
|
|
NM_003054.6(SLC18A2):c.1306+43G>A
|
rs363272
|
|
NM_003054.6(SLC18A2):c.216dup (p.Asp73fs)
|
|
|
NM_003054.6(SLC18A2):c.240_244del (p.Ser80_Tyr81insTer)
|
|
|
NM_003054.6(SLC18A2):c.33G>A (p.Trp11Ter)
|
rs2133723906
|
|
NM_003054.6(SLC18A2):c.590C>T (p.Ser197Phe)
|
|
|
NM_003054.6(SLC18A2):c.710C>A (p.Pro237His)
|
rs767337086
|
|
NM_003054.6(SLC18A2):c.946C>G (p.Pro316Ala)
|
rs1589981178
|
|
NM_003285.3(TNR):c.1732C>T (p.Arg578Ter)
|
rs869312899
|
|
NM_003365.3(UQCRC1):c.279G>C (p.Leu93Phe)
|
|
|
NM_003365.3(UQCRC1):c.359T>C (p.Leu120Pro)
|
|
|
NM_003365.3(UQCRC1):c.376C>T (p.Arg126Trp)
|
|
|
NM_003365.3(UQCRC1):c.931A>C (p.Ile311Leu)
|
rs2107843274
|
|
NM_003365.3(UQCRC1):c.941A>C (p.Tyr314Ser)
|
rs780978963
|
|
NM_003365.3(UQCRC1):c.964G>A (p.Val322Met)
|
|
|
NM_003365.3(UQCRC1):c.[70-1G>A;73dup]
|
|
|
NM_003560.4(PLA2G6):c.1354C>T (p.Gln452Ter)
|
rs387906864
|
|
NM_003560.4(PLA2G6):c.1634A>C (p.Lys545Thr)
|
rs121908681
|
|
NM_003560.4(PLA2G6):c.1674del (p.Leu560fs)
|
rs587784336
|
|
NM_003560.4(PLA2G6):c.1685A>G (p.Glu562Gly)
|
rs751508677
|
|
NM_003560.4(PLA2G6):c.1786C>T (p.Leu596Phe)
|
rs2087181118
|
|
NM_003560.4(PLA2G6):c.1904G>A (p.Arg635Gln)
|
rs387906863
|
|
NM_003560.4(PLA2G6):c.216C>A (p.Phe72Leu)
|
rs774631197
|
|
NM_003560.4(PLA2G6):c.29C>A (p.Thr10Asn)
|
rs1323819447
|
|
NM_003560.4(PLA2G6):c.797G>C (p.Gly266Ala)
|
rs764286950
|
|
NM_003560.4(PLA2G6):c.991G>T (p.Asp331Tyr)
|
rs199935023
|
|
NM_003690.5(PRKRA):c.*180C>T
|
rs886055202
|
|
NM_003690.5(PRKRA):c.*576G>A
|
rs1696648689
|
|
NM_003690.5(PRKRA):c.-11C>T
|
rs767401214
|
|
NM_003690.5(PRKRA):c.-133C>G
|
rs80197731
|
|
NM_003690.5(PRKRA):c.-14C>T
|
rs181793341
|
|
NM_003690.5(PRKRA):c.109C>G (p.Gln37Glu)
|
rs2154125583
|
|
NM_003690.5(PRKRA):c.131T>C (p.Met44Thr)
|
rs1553599437
|
|
NM_003690.5(PRKRA):c.15G>A (p.Arg5=)
|
|
|
NM_003690.5(PRKRA):c.161G>T (p.Cys54Phe)
|
|
|
NM_003690.5(PRKRA):c.180A>G (p.Gln60=)
|
|
|
NM_003690.5(PRKRA):c.1A>G (p.Met1Val)
|
rs9406386
|
|
NM_003690.5(PRKRA):c.203T>A (p.Phe68Tyr)
|
|
|
NM_003690.5(PRKRA):c.228C>G (p.Thr76=)
|
|
|
NM_003690.5(PRKRA):c.22_23del (p.Ala8fs)
|
rs141354030
|
|
NM_003690.5(PRKRA):c.230G>C (p.Cys77Ser)
|
rs2154125572
|
|
NM_003690.5(PRKRA):c.235+20C>G
|
|
|
NM_003690.5(PRKRA):c.250AAG[3] (p.Lys85_Leu86insLys)
|
|
|
NM_003690.5(PRKRA):c.256C>G (p.Leu86Val)
|
rs1311237497
|
|
NM_003690.5(PRKRA):c.25G>A (p.Glu9Lys)
|
|
|
NM_003690.5(PRKRA):c.267_268del (p.His89fs)
|
rs730880307
|
|
NM_003690.5(PRKRA):c.270A>C (p.Arg90Ser)
|
|
|
NM_003690.5(PRKRA):c.285C>A (p.Ala95=)
|
rs546281621
|
|
NM_003690.5(PRKRA):c.286A>G (p.Ile96Val)
|
|
|
NM_003690.5(PRKRA):c.308C>T (p.Ala103Val)
|
rs2154125404
|
|
NM_003690.5(PRKRA):c.309A>C (p.Ala103=)
|
|
|
NM_003690.5(PRKRA):c.317+14C>T
|
|
|
NM_003690.5(PRKRA):c.318-20C>G
|
|
|
NM_003690.5(PRKRA):c.319T>C (p.Phe107Leu)
|
rs1369422271
|
|
NM_003690.5(PRKRA):c.32C>G (p.Pro11Arg)
|
rs62176112
|
|
NM_003690.5(PRKRA):c.348C>T (p.Asp116=)
|
rs752108367
|
|
NM_003690.5(PRKRA):c.377A>G (p.Asn126Ser)
|
rs1553597653
|
|
NM_003690.5(PRKRA):c.397-19C>T
|
|
|
NM_003690.5(PRKRA):c.435T>C (p.Tyr145=)
|
|
|
NM_003690.5(PRKRA):c.500C>T (p.Ser167Leu)
|
rs747134851
|
|
NM_003690.5(PRKRA):c.514+13T>C
|
|
|
NM_003690.5(PRKRA):c.514+15C>A
|
|
|
NM_003690.5(PRKRA):c.514+2T>A
|
|
|
NM_003690.5(PRKRA):c.515-11del
|
rs199996045
|
|
NM_003690.5(PRKRA):c.535C>T (p.Gln179Ter)
|
|
|
NM_003690.5(PRKRA):c.578G>C (p.Ser193Thr)
|
|
|
NM_003690.5(PRKRA):c.581A>G (p.Asn194Ser)
|
|
|
NM_003690.5(PRKRA):c.610-11_610-10del
|
rs138320145
|
|
NM_003690.5(PRKRA):c.610-18T>G
|
|
|
NM_003690.5(PRKRA):c.610-1_610insGAATGCTGCTGAGAAATTTCTTGCCAAATTTAGTAATATTTCTCCAGAGAACCACATTTCTTTA
|
rs775832077
|
|
NM_003690.5(PRKRA):c.616G>A (p.Val206Ile)
|
|
|
NM_003690.5(PRKRA):c.637T>C (p.Cys213Arg)
|
rs1575088174
|
|
NM_003690.5(PRKRA):c.65+12G>A
|
|
|
NM_003690.5(PRKRA):c.65+15A>C
|
rs2154125656
|
|
NM_003690.5(PRKRA):c.65+18C>T
|
|
|
NM_003690.5(PRKRA):c.65+20G>A
|
|
|
NM_003690.5(PRKRA):c.66-4_66-3insTCCCAGAGCAGGCACCGCCGAGGCCCTGCCGCTGGAGCGCGAGGACAGTGGGACCTT
|
rs1553599483
|
|
NM_003690.5(PRKRA):c.680A>G (p.Asn227Ser)
|
rs1158107453
|
|
NM_003690.5(PRKRA):c.699C>T (p.Leu233=)
|
|
|
NM_003690.5(PRKRA):c.71G>C (p.Gly24Ala)
|
|
|
NM_003690.5(PRKRA):c.784+14T>A
|
rs748087429
|
|
NM_003690.5(PRKRA):c.784+15del
|
rs200581051
|
|
NM_003690.5(PRKRA):c.784+15dup
|
|
|
NM_003690.5(PRKRA):c.785-14A>C
|
|
|
NM_003690.5(PRKRA):c.785-2_785-1insATATTTGGATAT
|
rs751875722
|
|
NM_003690.5(PRKRA):c.795C>A (p.Ser265Arg)
|
rs150679361
|
|
NM_003690.5(PRKRA):c.840C>T (p.Pro280=)
|
rs1176724773
|
|
NM_003690.5(PRKRA):c.84A>G (p.Thr28=)
|
rs1336241160
|
|
NM_003690.5(PRKRA):c.854A>G (p.His285Arg)
|
|
|
NM_003690.5(PRKRA):c.861C>A (p.Ser287=)
|
|
|
NM_003690.5(PRKRA):c.870C>T (p.Ser290=)
|
rs537898766
|
|
NM_003690.5(PRKRA):c.891T>C (p.Asp297=)
|
rs2154124431
|
|
NM_003690.5(PRKRA):c.923T>C (p.Ile308Thr)
|
|
|
NM_003719.5(PDE8B):c.*1139A>G
|
rs757476371
|
|
NM_003719.5(PDE8B):c.*1304G>T
|
rs1798423516
|
|
NM_003719.5(PDE8B):c.*287C>T
|
rs886060762
|
|
NM_003719.5(PDE8B):c.*28C>G
|
rs886060760
|
|
NM_003719.5(PDE8B):c.*498C>A
|
rs1061405
|
|
NM_003719.5(PDE8B):c.*921A>G
|
rs867519671
|
|
NM_003719.5(PDE8B):c.-19G>T
|
rs754321620
|
|
NM_003719.5(PDE8B):c.-24C>T
|
rs760305316
|
|
NM_003719.5(PDE8B):c.-44C>T
|
rs1450863356
|
|
NM_003719.5(PDE8B):c.1001G>A (p.Cys334Tyr)
|
rs973608754
|
|
NM_003719.5(PDE8B):c.1031T>G (p.Val344Gly)
|
rs767230883
|
|
NM_003719.5(PDE8B):c.1207A>G (p.Thr403Ala)
|
rs1791984017
|
|
NM_003719.5(PDE8B):c.1211A>T (p.Glu404Val)
|
rs1793075763
|
|
NM_003719.5(PDE8B):c.1276C>T (p.Arg426Ter)
|
|
|
NM_003719.5(PDE8B):c.1461G>A (p.Leu487=)
|
rs1794031371
|
|
NM_003719.5(PDE8B):c.1576+4A>G
|
rs1794602797
|
|
NM_003719.5(PDE8B):c.2115C>T (p.Phe705=)
|
rs886060758
|
|
NM_003719.5(PDE8B):c.211C>T (p.Arg71Cys)
|
rs764380392
|
|
NM_003719.5(PDE8B):c.2545G>A (p.Asp849Asn)
|
rs886060759
|
|
NM_003719.5(PDE8B):c.2649dup (p.Asp884Ter)
|
rs1798184496
|
|
NM_003719.5(PDE8B):c.304G>T (p.Glu102Ter)
|
rs878853158
|
|
NM_003719.5(PDE8B):c.52C>A (p.Arg18=)
|
rs886060753
|
|
NM_003719.5(PDE8B):c.79del (p.Arg27fs)
|
rs878853157
|
|
NM_003719.5(PDE8B):c.858C>T (p.Ser286=)
|
rs575049091
|
|
NM_003719.5(PDE8B):c.878A>G (p.Tyr293Cys)
|
rs1780697407
|
|
NM_003719.5(PDE8B):c.94_95delinsC (p.Val32fs)
|
rs2149371451
|
|
NM_003895.4(SYNJ1):c.13T>C (p.Trp5Arg)
|
rs1255271636
|
|
NM_004082.5(DCTN1):c.*111C>T
|
rs1673974256
|
|
NM_004082.5(DCTN1):c.-167del
|
rs886056335
|
|
NM_004082.5(DCTN1):c.-262A>G
|
rs886056336
|
|
NM_004082.5(DCTN1):c.-263C>G
|
rs1013222986
|
|
NM_004082.5(DCTN1):c.-72C>G
|
rs886056334
|
|
NM_004082.5(DCTN1):c.1000G>A (p.Glu334Lys)
|
|
|
NM_004082.5(DCTN1):c.1000G>T (p.Glu334Ter)
|
|
|
NM_004082.5(DCTN1):c.1008T>C (p.Thr336=)
|
|
|
NM_004082.5(DCTN1):c.1009A>G (p.Thr337Ala)
|
rs2103659798
|
|
NM_004082.5(DCTN1):c.1016T>C (p.Leu339Ser)
|
|
|
NM_004082.5(DCTN1):c.1023C>T (p.Ile341=)
|
rs1211302208
|
|
NM_004082.5(DCTN1):c.1026C>T (p.Leu342=)
|
|
|
NM_004082.5(DCTN1):c.1048+10C>T
|
rs2103659237
|
|
NM_004082.5(DCTN1):c.1048+17T>C
|
|
|
NM_004082.5(DCTN1):c.1048+20T>A
|
rs1674765824
|
|
NM_004082.5(DCTN1):c.1048+3A>C
|
rs1674767158
|
|
NM_004082.5(DCTN1):c.1048+4A>G
|
rs1309897356
|
|
NM_004082.5(DCTN1):c.1048+6G>A
|
|
|
NM_004082.5(DCTN1):c.1048+8G>A
|
rs1335279632
|
|
NM_004082.5(DCTN1):c.1049-13_1049-12del
|
|
|
NM_004082.5(DCTN1):c.1054G>C (p.Asp352His)
|
|
|
NM_004082.5(DCTN1):c.1062T>C (p.Ala354=)
|
|
|
NM_004082.5(DCTN1):c.1065A>T (p.Ala355=)
|
rs886056333
|
|
NM_004082.5(DCTN1):c.1086G>T (p.Gln362His)
|
|
|
NM_004082.5(DCTN1):c.1093G>T (p.Glu365Ter)
|
|
|
NM_004082.5(DCTN1):c.1102G>A (p.Ala368Thr)
|
rs1034996844
|
|
NM_004082.5(DCTN1):c.1106G>A (p.Arg369His)
|
|
|
NM_004082.5(DCTN1):c.1125G>T (p.Val375=)
|
|
|
NM_004082.5(DCTN1):c.1127+14T>C
|
|
|
NM_004082.5(DCTN1):c.1127+16C>T
|
|
|
NM_004082.5(DCTN1):c.1127+6G>A
|
rs951022782
|
|
NM_004082.5(DCTN1):c.1127+8C>G
|
rs2103657565
|
|
NM_004082.5(DCTN1):c.1128-10A>G
|
|
|
NM_004082.5(DCTN1):c.1128-13C>G
|
|
|
NM_004082.5(DCTN1):c.1128-13C>T
|
|
|
NM_004082.5(DCTN1):c.1128-15C>G
|
|
|
NM_004082.5(DCTN1):c.1128-16C>T
|
rs2103656711
|
|
NM_004082.5(DCTN1):c.1129A>C (p.Met377Leu)
|
rs570863800
|
|
NM_004082.5(DCTN1):c.1132C>T (p.Arg378Trp)
|
|
|
NM_004082.5(DCTN1):c.1133G>A (p.Arg378Gln)
|
|
|
NM_004082.5(DCTN1):c.1140T>G (p.Leu380=)
|
rs886056332
|
|
NM_004082.5(DCTN1):c.1161G>A (p.Glu387=)
|
rs72659373
|
|
NM_004082.5(DCTN1):c.1165G>A (p.Val389Met)
|
|
|
NM_004082.5(DCTN1):c.1170G>A (p.Lys390=)
|
rs1674741348
|
|
NM_004082.5(DCTN1):c.1179G>C (p.Lys393Asn)
|
rs1674740605
|
|
NM_004082.5(DCTN1):c.1199A>C (p.Gln400Pro)
|
|
|
NM_004082.5(DCTN1):c.11G>A (p.Ser4Asn)
|
|
|
NM_004082.5(DCTN1):c.1200A>G (p.Gln400=)
|
|
|
NM_004082.5(DCTN1):c.1203G>T (p.Glu401Asp)
|
rs2103655781
|
|
NM_004082.5(DCTN1):c.121C>T (p.Arg41Ter)
|
rs2103723456
|
|
NM_004082.5(DCTN1):c.1227G>C (p.Arg409=)
|
rs2103655320
|
|
NM_004082.5(DCTN1):c.1231C>T (p.Arg411Cys)
|
|
|
NM_004082.5(DCTN1):c.1232G>A (p.Arg411His)
|
|
|
NM_004082.5(DCTN1):c.1232G>T (p.Arg411Leu)
|
rs186892779
|
|
NM_004082.5(DCTN1):c.1248A>G (p.Leu416=)
|
rs2103655091
|
|
NM_004082.5(DCTN1):c.1251C>T (p.Ser417=)
|
rs1553465163
|
|
NM_004082.5(DCTN1):c.1259A>G (p.Glu420Gly)
|
rs1674734372
|
|
NM_004082.5(DCTN1):c.1270G>C (p.Asp424His)
|
rs1553465143
|
|
NM_004082.5(DCTN1):c.1274A>C (p.Glu425Ala)
|
rs2103654759
|
|
NM_004082.5(DCTN1):c.1284G>A (p.Glu428=)
|
|
|
NM_004082.5(DCTN1):c.1287+12C>T
|
|
|
NM_004082.5(DCTN1):c.1287+5G>A
|
|
|
NM_004082.5(DCTN1):c.1288-10C>G
|
rs72659375
|
|
NM_004082.5(DCTN1):c.1288-12C>T
|
|
|
NM_004082.5(DCTN1):c.1288-19T>C
|
rs2103653681
|
|
NM_004082.5(DCTN1):c.1288-1G>A
|
rs2103653438
|
|
NM_004082.5(DCTN1):c.1288-20C>T
|
|
|
NM_004082.5(DCTN1):c.1288-7_1289del
|
rs1674719585
|
|
NM_004082.5(DCTN1):c.1288G>A (p.Val430Met)
|
|
|
NM_004082.5(DCTN1):c.1292A>G (p.Asp431Gly)
|
|
|
NM_004082.5(DCTN1):c.1316T>C (p.Met439Thr)
|
rs1573161529
|
|
NM_004082.5(DCTN1):c.1333G>C (p.Asp445His)
|
|
|
NM_004082.5(DCTN1):c.1335T>C (p.Asp445=)
|
|
|
NM_004082.5(DCTN1):c.1340A>G (p.Asn447Ser)
|
|
|
NM_004082.5(DCTN1):c.1347T>A (p.Asn449Lys)
|
rs2103652994
|
|
NM_004082.5(DCTN1):c.1356G>A (p.Glu452=)
|
|
|
NM_004082.5(DCTN1):c.1366G>A (p.Glu456Lys)
|
rs2103652794
|
|
NM_004082.5(DCTN1):c.1388A>G (p.Asp463Gly)
|
rs1558941192
|
|
NM_004082.5(DCTN1):c.1392+13C>T
|
rs2103652491
|
|
NM_004082.5(DCTN1):c.1392+7G>A
|
|
|
NM_004082.5(DCTN1):c.1392+8_1392+9del
|
rs1573161311
|
|
NM_004082.5(DCTN1):c.1393-13T>C
|
|
|
NM_004082.5(DCTN1):c.1393-17_1393-16del
|
|
|
NM_004082.5(DCTN1):c.1393-4C>T
|
|
|
NM_004082.5(DCTN1):c.1393-4del
|
|
|
NM_004082.5(DCTN1):c.1393-7G>A
|
rs886056330
|
|
NM_004082.5(DCTN1):c.1393-7G>T
|
rs886056330
|
|
NM_004082.5(DCTN1):c.1393-8T>C
|
rs886056331
|
|
NM_004082.5(DCTN1):c.1393-9_1393-7del
|
rs1452712153
|
|
NM_004082.5(DCTN1):c.1396G>A (p.Ala466Thr)
|
|
|
NM_004082.5(DCTN1):c.1397C>T (p.Ala466Val)
|
|
|
NM_004082.5(DCTN1):c.1398G>C (p.Ala466=)
|
|
|
NM_004082.5(DCTN1):c.1408A>G (p.Met470Val)
|
|
|
NM_004082.5(DCTN1):c.1414G>A (p.Asp472Asn)
|
|
|
NM_004082.5(DCTN1):c.1425G>A (p.Gln475=)
|
|
|
NM_004082.5(DCTN1):c.142_143delinsAT (p.Gly48Ile)
|
rs1573179028
|
|
NM_004082.5(DCTN1):c.1435C>T (p.Arg479Cys)
|
rs1558940606
|
|
NM_004082.5(DCTN1):c.1436G>T (p.Arg479Leu)
|
|
|
NM_004082.5(DCTN1):c.1447C>A (p.Leu483Met)
|
|
|
NM_004082.5(DCTN1):c.1461G>A (p.Glu487=)
|
rs758555575
|
|
NM_004082.5(DCTN1):c.1481C>A (p.Ala494Glu)
|
|
|
NM_004082.5(DCTN1):c.1499A>G (p.Gln500Arg)
|
|
|
NM_004082.5(DCTN1):c.1504C>T (p.Arg502Cys)
|
rs145958900
|
|
NM_004082.5(DCTN1):c.150A>G (p.Thr50=)
|
rs1295226562
|
|
NM_004082.5(DCTN1):c.1514C>T (p.Ala505Val)
|
|
|
NM_004082.5(DCTN1):c.153G>C (p.Leu51=)
|
rs765144648
|
|
NM_004082.5(DCTN1):c.1542G>A (p.Gln514=)
|
rs2103646064
|
|
NM_004082.5(DCTN1):c.1552AAG[1] (p.Lys519del)
|
rs2103645875
|
|
NM_004082.5(DCTN1):c.155T>C (p.Phe52Ser)
|
rs2103723246
|
|
NM_004082.5(DCTN1):c.1562G>A (p.Arg521His)
|
|
|
NM_004082.5(DCTN1):c.156T>G (p.Phe52Leu)
|
rs886039227
|
|
NM_004082.5(DCTN1):c.1572C>T (p.Thr524=)
|
|
|
NM_004082.5(DCTN1):c.1581A>G (p.Leu527=)
|
|
|
NM_004082.5(DCTN1):c.1584+12C>T
|
|
|
NM_004082.5(DCTN1):c.1584+18G>A
|
|
|
NM_004082.5(DCTN1):c.1584+19C>A
|
|
|
NM_004082.5(DCTN1):c.1584+20T>C
|
rs1441516485
|
|
NM_004082.5(DCTN1):c.1584+2T>C
|
|
|
NM_004082.5(DCTN1):c.1584+5A>G
|
rs1283119090
|
|
NM_004082.5(DCTN1):c.1584+9C>T
|
rs751116557
|
|
NM_004082.5(DCTN1):c.1585-11T>C
|
rs2103645005
|
|
NM_004082.5(DCTN1):c.1585-12C>T
|
|
|
NM_004082.5(DCTN1):c.1585-13TC[2]
|
rs777190760
|
|
NM_004082.5(DCTN1):c.1585-14G>C
|
|
|
NM_004082.5(DCTN1):c.1585-16C>T
|
|
|
NM_004082.5(DCTN1):c.1585-17A>G
|
|
|
NM_004082.5(DCTN1):c.1585-20T>C
|
|
|
NM_004082.5(DCTN1):c.1585-4C>G
|
|
|
NM_004082.5(DCTN1):c.1585-6T>C
|
rs2103644864
|
|
NM_004082.5(DCTN1):c.1592A>G (p.Asn531Ser)
|
rs367910524
|
|
NM_004082.5(DCTN1):c.1594C>T (p.Arg532Trp)
|
|
|
NM_004082.5(DCTN1):c.1595G>T (p.Arg532Leu)
|
rs759306485
|
|
NM_004082.5(DCTN1):c.1602G>C (p.Leu534=)
|
|
|
NM_004082.5(DCTN1):c.1606A>C (p.Asn536His)
|
rs1553464927
|
|
NM_004082.5(DCTN1):c.1615G>A (p.Glu539Lys)
|
|
|
NM_004082.5(DCTN1):c.1616A>G (p.Glu539Gly)
|
|
|
NM_004082.5(DCTN1):c.1618G>A (p.Ala540Thr)
|
|
|
NM_004082.5(DCTN1):c.161C>T (p.Thr54Ile)
|
|
|
NM_004082.5(DCTN1):c.1626G>A (p.Val542=)
|
rs2103644312
|
|
NM_004082.5(DCTN1):c.1629G>A (p.Glu543=)
|
|
|
NM_004082.5(DCTN1):c.1635A>G (p.Gln545=)
|
|
|
NM_004082.5(DCTN1):c.1636C>T (p.Gln546Ter)
|
|
|
NM_004082.5(DCTN1):c.1649C>T (p.Pro550Leu)
|
rs2103644049
|
|
NM_004082.5(DCTN1):c.1659T>C (p.Phe553=)
|
|
|
NM_004082.5(DCTN1):c.1662C>T (p.Asp554=)
|
rs188566922
|
|
NM_004082.5(DCTN1):c.1667A>G (p.Lys556Arg)
|
|
|
NM_004082.5(DCTN1):c.1671C>T (p.Ile557=)
|
|
|
NM_004082.5(DCTN1):c.1679C>A (p.Ala560Asp)
|
|
|
NM_004082.5(DCTN1):c.1683G>A (p.Glu561=)
|
rs1573158885
|
|
NM_004082.5(DCTN1):c.1684A>T (p.Thr562Ser)
|
|
|
NM_004082.5(DCTN1):c.1685C>T (p.Thr562Ile)
|
|
|
NM_004082.5(DCTN1):c.1697C>G (p.Ala566Gly)
|
|
|
NM_004082.5(DCTN1):c.1701+10G>C
|
rs2103643570
|
|
NM_004082.5(DCTN1):c.1702-19C>T
|
|
|
NM_004082.5(DCTN1):c.1702-20C>T
|
|
|
NM_004082.5(DCTN1):c.1702-3C>A
|
|
|
NM_004082.5(DCTN1):c.1702-7C>G
|
|
|
NM_004082.5(DCTN1):c.1702G>A (p.Ala568Thr)
|
|
|
NM_004082.5(DCTN1):c.1706T>A (p.Ile569Asn)
|
rs1553464828
|
|
NM_004082.5(DCTN1):c.1706T>C (p.Ile569Thr)
|
|
|
NM_004082.5(DCTN1):c.1707T>C (p.Ile569=)
|
rs765410716
|
|
NM_004082.5(DCTN1):c.1719G>T (p.Leu573Phe)
|
|
|
NM_004082.5(DCTN1):c.1727T>C (p.Met576Thr)
|
rs2103640952
|
|
NM_004082.5(DCTN1):c.1741G>T (p.Ala581Ser)
|
|
|
NM_004082.5(DCTN1):c.1747C>G (p.Arg583Gly)
|
rs1288295388
|
|
NM_004082.5(DCTN1):c.1750C>A (p.His584Asn)
|
rs2103640754
|
|
NM_004082.5(DCTN1):c.1752C>A (p.His584Gln)
|
rs1345909454
|
|
NM_004082.5(DCTN1):c.1758C>A (p.Ser586=)
|
rs773517017
|
|
NM_004082.5(DCTN1):c.175G>A (p.Gly59Ser)
|
rs121909342
|
|
NM_004082.5(DCTN1):c.175G>C (p.Gly59Arg)
|
rs121909342
|
|
NM_004082.5(DCTN1):c.1761G>C (p.Leu587=)
|
|
|
NM_004082.5(DCTN1):c.1774A>C (p.Met592Leu)
|
|
|
NM_004082.5(DCTN1):c.1777C>T (p.Pro593Ser)
|
|
|
NM_004082.5(DCTN1):c.1788C>A (p.Phe596Leu)
|
|
|
NM_004082.5(DCTN1):c.178G>A (p.Val60Met)
|
rs74768853
|
|
NM_004082.5(DCTN1):c.1799G>A (p.Gly600Asp)
|
|
|
NM_004082.5(DCTN1):c.1807C>A (p.His603Asn)
|
rs1558939544
|
|
NM_004082.5(DCTN1):c.1808A>G (p.His603Arg)
|
|
|
NM_004082.5(DCTN1):c.1813T>G (p.Cys605Gly)
|
rs1674611581
|
|
NM_004082.5(DCTN1):c.1814G>A (p.Cys605Tyr)
|
|
|
NM_004082.5(DCTN1):c.1827G>A (p.Leu609=)
|
|
|
NM_004082.5(DCTN1):c.1834A>T (p.Met612Leu)
|
|
|
NM_004082.5(DCTN1):c.1840C>T (p.Arg614Cys)
|
rs1674609133
|
|
NM_004082.5(DCTN1):c.1841G>A (p.Arg614His)
|
|
|
NM_004082.5(DCTN1):c.1844T>A (p.Leu615His)
|
rs1674608736
|
|
NM_004082.5(DCTN1):c.1854+10A>G
|
|
|
NM_004082.5(DCTN1):c.1854+18C>T
|
|
|
NM_004082.5(DCTN1):c.1854+20T>A
|
rs369606521
|
|
NM_004082.5(DCTN1):c.1854+9A>G
|
|
|
NM_004082.5(DCTN1):c.1855-7C>T
|
rs2103634309
|
|
NM_004082.5(DCTN1):c.1863G>C (p.Leu621=)
|
rs2103634135
|
|
NM_004082.5(DCTN1):c.1867C>A (p.Arg623=)
|
rs764568642
|
|
NM_004082.5(DCTN1):c.1873C>T (p.Gln625Ter)
|
rs1674561364
|
|
NM_004082.5(DCTN1):c.187G>A (p.Asp63Asn)
|
|
|
NM_004082.5(DCTN1):c.187G>T (p.Asp63Tyr)
|
|
|
NM_004082.5(DCTN1):c.1882_1884del (p.Glu628del)
|
|
|
NM_004082.5(DCTN1):c.1902G>T (p.Glu634Asp)
|
|
|
NM_004082.5(DCTN1):c.1904A>G (p.Asn635Ser)
|
|
|
NM_004082.5(DCTN1):c.1912G>A (p.Glu638Lys)
|
|
|
NM_004082.5(DCTN1):c.1912G>C (p.Glu638Gln)
|
|
|
NM_004082.5(DCTN1):c.1915C>T (p.Arg639Trp)
|
|
|
NM_004082.5(DCTN1):c.1916G>A (p.Arg639Gln)
|
|
|
NM_004082.5(DCTN1):c.1916G>T (p.Arg639Leu)
|
rs201095249
|
|
NM_004082.5(DCTN1):c.1927C>T (p.Arg643Ter)
|
rs866457869
|
|
NM_004082.5(DCTN1):c.1928G>A (p.Arg643Gln)
|
rs555733849
|
|
NM_004082.5(DCTN1):c.1931G>T (p.Gly644Val)
|
|
|
NM_004082.5(DCTN1):c.1982G>T (p.Ser661Ile)
|
rs1558938711
|
|
NM_004082.5(DCTN1):c.1983C>A (p.Ser661Arg)
|
rs2103632771
|
|
NM_004082.5(DCTN1):c.1986G>A (p.Leu662=)
|
rs1409478361
|
|
NM_004082.5(DCTN1):c.1995C>A (p.Ala665=)
|
rs767698839
|
|
NM_004082.5(DCTN1):c.2004C>T (p.His668=)
|
|
|
NM_004082.5(DCTN1):c.2009A>T (p.Tyr670Phe)
|
rs765819985
|
|
NM_004082.5(DCTN1):c.200G>A (p.Gly67Asp)
|
rs886039228
|
|
NM_004082.5(DCTN1):c.200G>T (p.Gly67Val)
|
rs886039228
|
|
NM_004082.5(DCTN1):c.2014C>G (p.His672Asp)
|
|
|
NM_004082.5(DCTN1):c.2015+19C>A
|
|
|
NM_004082.5(DCTN1):c.2015+1G>C
|
rs2103632452
|
|
NM_004082.5(DCTN1):c.2015+5G>A
|
rs770696267
|
|
NM_004082.5(DCTN1):c.2016-12T>C
|
|
|
NM_004082.5(DCTN1):c.2016-3T>C
|
|
|
NM_004082.5(DCTN1):c.2016-6C>A
|
rs1573155729
|
|
NM_004082.5(DCTN1):c.2020C>A (p.Leu674Ile)
|
|
|
NM_004082.5(DCTN1):c.2020C>T (p.Leu674Phe)
|
rs368531137
|
|
NM_004082.5(DCTN1):c.2024C>G (p.Ser675Cys)
|
|
|
NM_004082.5(DCTN1):c.2026C>T (p.Gln676Ter)
|
|
|
NM_004082.5(DCTN1):c.202A>G (p.Lys68Glu)
|
|
|
NM_004082.5(DCTN1):c.2031C>T (p.Cys677=)
|
rs112930313
|
|
NM_004082.5(DCTN1):c.2033G>C (p.Ser678Thr)
|
|
|
NM_004082.5(DCTN1):c.2034T>C (p.Ser678=)
|
|
|
NM_004082.5(DCTN1):c.2039A>G (p.Asp680Gly)
|
rs2103630948
|
|
NM_004082.5(DCTN1):c.2060G>C (p.Ser687Thr)
|
|
|
NM_004082.5(DCTN1):c.2065T>A (p.Tyr689Asn)
|
rs72659377
|
|
NM_004082.5(DCTN1):c.2069C>T (p.Pro690Leu)
|
|
|
NM_004082.5(DCTN1):c.2071G>C (p.Glu691Gln)
|
rs1674536343
|
|
NM_004082.5(DCTN1):c.2080G>A (p.Ala694Thr)
|
rs2103630505
|
|
NM_004082.5(DCTN1):c.2088G>A (p.Glu696=)
|
|
|
NM_004082.5(DCTN1):c.2089C>T (p.Arg697Cys)
|
rs1674533703
|
|
NM_004082.5(DCTN1):c.2091C>G (p.Arg697=)
|
|
|
NM_004082.5(DCTN1):c.2093C>T (p.Ser698Phe)
|
|
|
NM_004082.5(DCTN1):c.2103C>T (p.Phe701=)
|
|
|
NM_004082.5(DCTN1):c.2104C>T (p.Leu702Phe)
|
rs374500944
|
|
NM_004082.5(DCTN1):c.211G>A (p.Gly71Arg)
|
rs72466485
|
|
NM_004082.5(DCTN1):c.212G>A (p.Gly71Glu)
|
rs67586389
|
|
NM_004082.5(DCTN1):c.212G>C (p.Gly71Ala)
|
rs67586389
|
|
NM_004082.5(DCTN1):c.2140A>G (p.Thr714Ala)
|
|
|
NM_004082.5(DCTN1):c.2142T>C (p.Thr714=)
|
|
|
NM_004082.5(DCTN1):c.2147A>C (p.Asn716Thr)
|
|
|
NM_004082.5(DCTN1):c.214A>C (p.Thr72Pro)
|
rs72466486
|
|
NM_004082.5(DCTN1):c.2154G>A (p.Glu718=)
|
|
|
NM_004082.5(DCTN1):c.2161A>G (p.Thr721Ala)
|
|
|
NM_004082.5(DCTN1):c.2163C>T (p.Thr721=)
|
|
|
NM_004082.5(DCTN1):c.2165A>C (p.Lys722Thr)
|
|
|
NM_004082.5(DCTN1):c.2180A>G (p.Tyr727Cys)
|
rs1287560245
|
|
NM_004082.5(DCTN1):c.2184+16T>C
|
|
|
NM_004082.5(DCTN1):c.2184+19G>A
|
rs1349408124
|
|
NM_004082.5(DCTN1):c.2185-15G>C
|
|
|
NM_004082.5(DCTN1):c.2185-17_2185-14del
|
|
|
NM_004082.5(DCTN1):c.2185-3C>T
|
|
|
NM_004082.5(DCTN1):c.2186A>G (p.His729Arg)
|
|
|
NM_004082.5(DCTN1):c.2194A>G (p.Ser732Gly)
|
|
|
NM_004082.5(DCTN1):c.2202C>T (p.His734=)
|
rs2103626323
|
|
NM_004082.5(DCTN1):c.2206G>A (p.Ala736Thr)
|
|
|
NM_004082.5(DCTN1):c.2208C>G (p.Ala736=)
|
|
|
NM_004082.5(DCTN1):c.2214G>T (p.Gln738His)
|
|
|
NM_004082.5(DCTN1):c.2217T>G (p.Pro739=)
|
rs1553464448
|
|
NM_004082.5(DCTN1):c.221A>C (p.Gln74Pro)
|
rs72466487
|
|
NM_004082.5(DCTN1):c.221A>G (p.Gln74Arg)
|
|
|
NM_004082.5(DCTN1):c.2221G>A (p.Asp741Asn)
|
|
|
NM_004082.5(DCTN1):c.2221G>C (p.Asp741His)
|
|
|
NM_004082.5(DCTN1):c.2230A>G (p.Met744Val)
|
|
|
NM_004082.5(DCTN1):c.2238G>A (p.Leu746=)
|
rs1553464441
|
|
NM_004082.5(DCTN1):c.223G>A (p.Gly75Ser)
|
rs2103722715
|
|
NM_004082.5(DCTN1):c.2253+13G>A
|
|
|
NM_004082.5(DCTN1):c.2253+14G>T
|
rs2103625486
|
|
NM_004082.5(DCTN1):c.2253+16C>T
|
|
|
NM_004082.5(DCTN1):c.2254-18A>G
|
|
|
NM_004082.5(DCTN1):c.2254-8C>T
|
rs1674478166
|
|
NM_004082.5(DCTN1):c.2254T>C (p.Phe752Leu)
|
|
|
NM_004082.5(DCTN1):c.2259G>A (p.Thr753=)
|
|
|
NM_004082.5(DCTN1):c.2259G>C (p.Thr753=)
|
rs200275059
|
|
NM_004082.5(DCTN1):c.2264dup (p.Ser755fs)
|
|
|
NM_004082.5(DCTN1):c.2267C>T (p.Ala756Val)
|
|
|
NM_004082.5(DCTN1):c.2275T>C (p.Cys759Arg)
|
rs2104418971
|
|
NM_004082.5(DCTN1):c.2283T>C (p.Ser761=)
|
rs879630850
|
|
NM_004082.5(DCTN1):c.2292A>G (p.Val764=)
|
rs1290529283
|
|
NM_004082.5(DCTN1):c.2294G>A (p.Gly765Glu)
|
rs1410846987
|
|
NM_004082.5(DCTN1):c.2301G>A (p.Leu767=)
|
|
|
NM_004082.5(DCTN1):c.2302C>T (p.Arg768Cys)
|
|
|
NM_004082.5(DCTN1):c.2316+15A>G
|
|
|
NM_004082.5(DCTN1):c.2316+5G>A
|
rs913439751
|
|
NM_004082.5(DCTN1):c.2317-15C>G
|
|
|
NM_004082.5(DCTN1):c.2317-16T>C
|
rs1674462194
|
|
NM_004082.5(DCTN1):c.2317-19T>C
|
|
|
NM_004082.5(DCTN1):c.2317-20A>G
|
|
|
NM_004082.5(DCTN1):c.2317-2A>T
|
rs980571603
|
|
NM_004082.5(DCTN1):c.231G>A (p.Lys77=)
|
|
|
NM_004082.5(DCTN1):c.2320G>A (p.Gly774Arg)
|
|
|
NM_004082.5(DCTN1):c.2328G>A (p.Glu776=)
|
rs2104417915
|
|
NM_004082.5(DCTN1):c.232T>C (p.Tyr78His)
|
rs1558948987
|
|
NM_004082.5(DCTN1):c.2332A>G (p.Thr778Ala)
|
|
|
NM_004082.5(DCTN1):c.2338A>G (p.Ile780Val)
|
rs1558937413
|
|
NM_004082.5(DCTN1):c.233A>G (p.Tyr78Cys)
|
rs886039229
|
|
NM_004082.5(DCTN1):c.2344C>G (p.Leu782Val)
|
rs2104417734
|
|
NM_004082.5(DCTN1):c.2354G>A (p.Arg785Gln)
|
|
|
NM_004082.5(DCTN1):c.2359C>G (p.Leu787Val)
|
rs2104417597
|
|
NM_004082.5(DCTN1):c.2367T>G (p.Thr789=)
|
rs994669046
|
|
NM_004082.5(DCTN1):c.2367_2368del (p.Ser790fs)
|
|
|
NM_004082.5(DCTN1):c.2371T>C (p.Cys791Arg)
|
rs1297844991
|
|
NM_004082.5(DCTN1):c.2377G>A (p.Asp793Asn)
|
|
|
NM_004082.5(DCTN1):c.2382C>A (p.Ile794=)
|
rs142107482
|
|
NM_004082.5(DCTN1):c.2387A>G (p.Gln796Arg)
|
rs1674452900
|
|
NM_004082.5(DCTN1):c.2389T>C (p.Phe797Leu)
|
|
|
NM_004082.5(DCTN1):c.2401A>G (p.Ile801Val)
|
rs573330919
|
|
NM_004082.5(DCTN1):c.2405G>A (p.Arg802Gln)
|
|
|
NM_004082.5(DCTN1):c.2410C>T (p.Arg804Ter)
|
rs1674450649
|
|
NM_004082.5(DCTN1):c.2418A>G (p.Pro806=)
|
rs2104417117
|
|
NM_004082.5(DCTN1):c.2427T>G (p.Asp809Glu)
|
rs1573152954
|
|
NM_004082.5(DCTN1):c.2429C>G (p.Ala810Gly)
|
rs372500630
|
|
NM_004082.5(DCTN1):c.2432C>G (p.Pro811Arg)
|
rs150928856
|
|
NM_004082.5(DCTN1):c.2432C>T (p.Pro811Leu)
|
|
|
NM_004082.5(DCTN1):c.2442A>G (p.Pro814=)
|
rs2104416925
|
|
NM_004082.5(DCTN1):c.2454C>G (p.Ala818=)
|
rs766673794
|
|
NM_004082.5(DCTN1):c.2462C>G (p.Pro821Arg)
|
|
|
NM_004082.5(DCTN1):c.2466+17G>C
|
rs2104416659
|
|
NM_004082.5(DCTN1):c.2467-17T>C
|
|
|
NM_004082.5(DCTN1):c.2467-7C>G
|
|
|
NM_004082.5(DCTN1):c.2467-8G>A
|
|
|
NM_004082.5(DCTN1):c.2469A>G (p.Val823=)
|
|
|
NM_004082.5(DCTN1):c.2480T>C (p.Leu827Pro)
|
rs1470946965
|
|
NM_004082.5(DCTN1):c.2493G>C (p.Arg831Ser)
|
|
|
NM_004082.5(DCTN1):c.2496A>G (p.Lys832=)
|
|
|
NM_004082.5(DCTN1):c.24G>A (p.Val8=)
|
|
|
NM_004082.5(DCTN1):c.2504C>T (p.Thr835Met)
|
|
|
NM_004082.5(DCTN1):c.2512G>A (p.Val838Met)
|
|
|
NM_004082.5(DCTN1):c.2520G>A (p.Val840=)
|
rs2104415505
|
|
NM_004082.5(DCTN1):c.2525A>G (p.Gln842Arg)
|
rs2104415444
|
|
NM_004082.5(DCTN1):c.2549A>T (p.Gln850Leu)
|
rs75213803
|
|
NM_004082.5(DCTN1):c.2550G>C (p.Gln850His)
|
rs2104415238
|
|
NM_004082.5(DCTN1):c.2575G>A (p.Glu859Lys)
|
|
|
NM_004082.5(DCTN1):c.2596C>G (p.Leu866Val)
|
|
|
NM_004082.5(DCTN1):c.2608G>A (p.Ala870Thr)
|
rs1267339489
|
|
NM_004082.5(DCTN1):c.2612T>C (p.Phe871Ser)
|
|
|
NM_004082.5(DCTN1):c.2623G>A (p.Glu875Lys)
|
|
|
NM_004082.5(DCTN1):c.2628+11A>G
|
|
|
NM_004082.5(DCTN1):c.2628+3G>A
|
|
|
NM_004082.5(DCTN1):c.2628+5G>T
|
|
|
NM_004082.5(DCTN1):c.2629-13T>C
|
|
|
NM_004082.5(DCTN1):c.2629-18T>C
|
|
|
NM_004082.5(DCTN1):c.2629-7C>A
|
rs1278207608
|
|
NM_004082.5(DCTN1):c.2642C>G (p.Pro881Arg)
|
|
|
NM_004082.5(DCTN1):c.2676A>G (p.Ser892=)
|
|
|
NM_004082.5(DCTN1):c.2677T>A (p.Cys893Ser)
|
|
|
NM_004082.5(DCTN1):c.2680A>G (p.Asn894Asp)
|
rs1437825772
|
|
NM_004082.5(DCTN1):c.2681A>G (p.Asn894Ser)
|
rs1207333910
|
|
NM_004082.5(DCTN1):c.2688C>T (p.Leu896=)
|
|
|
NM_004082.5(DCTN1):c.269G>A (p.Arg90His)
|
|
|
NM_004082.5(DCTN1):c.2705A>G (p.Lys902Arg)
|
|
|
NM_004082.5(DCTN1):c.2706G>A (p.Lys902=)
|
|
|
NM_004082.5(DCTN1):c.2711C>T (p.Ala904Val)
|
|
|
NM_004082.5(DCTN1):c.2719A>G (p.Met907Val)
|
rs1459064982
|
|
NM_004082.5(DCTN1):c.2731dup (p.Glu911fs)
|
rs1573151165
|
|
NM_004082.5(DCTN1):c.2738A>G (p.Asp913Gly)
|
|
|
NM_004082.5(DCTN1):c.2749C>T (p.Pro917Ser)
|
|
|
NM_004082.5(DCTN1):c.2760+10G>C
|
rs2104413368
|
|
NM_004082.5(DCTN1):c.2760+11A>G
|
|
|
NM_004082.5(DCTN1):c.2760+18T>C
|
|
|
NM_004082.5(DCTN1):c.2760+8G>A
|
|
|
NM_004082.5(DCTN1):c.2761-13_2761-10dup
|
rs1308261864
|
|
NM_004082.5(DCTN1):c.2761-14C>T
|
|
|
NM_004082.5(DCTN1):c.2761-16A>C
|
|
|
NM_004082.5(DCTN1):c.2761-16A>G
|
|
|
NM_004082.5(DCTN1):c.2761-19C>G
|
rs200545447
|
|
NM_004082.5(DCTN1):c.2761-19C>T
|
|
|
NM_004082.5(DCTN1):c.2761-20C>G
|
|
|
NM_004082.5(DCTN1):c.2761C>G (p.Pro921Ala)
|
|
|
NM_004082.5(DCTN1):c.2768C>T (p.Pro923Leu)
|
|
|
NM_004082.5(DCTN1):c.2769G>A (p.Pro923=)
|
|
|
NM_004082.5(DCTN1):c.2782G>A (p.Ala928Thr)
|
rs1674377455
|
|
NM_004082.5(DCTN1):c.279+11C>A
|
|
|
NM_004082.5(DCTN1):c.279+1G>A
|
rs1393363759
|
|
NM_004082.5(DCTN1):c.279+1G>C
|
rs1393363759
|
|
NM_004082.5(DCTN1):c.279+1G>T
|
rs1393363759
|
|
NM_004082.5(DCTN1):c.279+20G>T
|
|
|
NM_004082.5(DCTN1):c.279+2T>C
|
|
|
NM_004082.5(DCTN1):c.2793dup (p.Arg932fs)
|
rs1674376535
|
|
NM_004082.5(DCTN1):c.2794C>T (p.Arg932Cys)
|
rs373818927
|
|
NM_004082.5(DCTN1):c.2795G>T (p.Arg932Leu)
|
|
|
NM_004082.5(DCTN1):c.279G>A (p.Gln93=)
|
rs1675325580
|
|
NM_004082.5(DCTN1):c.279G>C (p.Gln93His)
|
|
|
NM_004082.5(DCTN1):c.280-14del
|
|
|
NM_004082.5(DCTN1):c.280-34_280-12del
|
rs762313810
|
|
NM_004082.5(DCTN1):c.280-34_280-12dup
|
rs762313810
|
|
NM_004082.5(DCTN1):c.280-5C>T
|
rs1675307447
|
|
NM_004082.5(DCTN1):c.2802G>C (p.Glu934Asp)
|
rs1674375862
|
|
NM_004082.5(DCTN1):c.2808del (p.Asp937fs)
|
rs1674375059
|
|
NM_004082.5(DCTN1):c.2809G>A (p.Asp937Asn)
|
rs2104411784
|
|
NM_004082.5(DCTN1):c.280A>G (p.Ile94Val)
|
|
|
NM_004082.5(DCTN1):c.282C>A (p.Ile94=)
|
|
|
NM_004082.5(DCTN1):c.2835C>A (p.Leu945=)
|
rs138305126
|
|
NM_004082.5(DCTN1):c.2835C>T (p.Leu945=)
|
rs138305126
|
|
NM_004082.5(DCTN1):c.2871G>A (p.Lys957=)
|
|
|
NM_004082.5(DCTN1):c.2879A>G (p.Lys960Arg)
|
rs1354697657
|
|
NM_004082.5(DCTN1):c.287T>C (p.Val96Ala)
|
rs1675306520
|
|
NM_004082.5(DCTN1):c.2886+18T>C
|
rs1409532126
|
|
NM_004082.5(DCTN1):c.2886+19C>T
|
rs1417650041
|
|
NM_004082.5(DCTN1):c.2887-14C>G
|
|
|
NM_004082.5(DCTN1):c.2887-2A>G
|
|
|
NM_004082.5(DCTN1):c.2887-5T>A
|
|
|
NM_004082.5(DCTN1):c.2887-8T>A
|
|
|
NM_004082.5(DCTN1):c.2887G>C (p.Gly963Arg)
|
|
|
NM_004082.5(DCTN1):c.288A>G (p.Val96=)
|
rs1553466396
|
|
NM_004082.5(DCTN1):c.2895G>T (p.Glu965Asp)
|
|
|
NM_004082.5(DCTN1):c.2909A>G (p.Asn970Ser)
|
rs568812456
|
|
NM_004082.5(DCTN1):c.2926C>A (p.Leu976Met)
|
rs2104409827
|
|
NM_004082.5(DCTN1):c.2927T>C (p.Leu976Pro)
|
|
|
NM_004082.5(DCTN1):c.2932AAG[1] (p.Lys979del)
|
rs1371339798
|
|
NM_004082.5(DCTN1):c.2937G>A (p.Lys979=)
|
|
|
NM_004082.5(DCTN1):c.2938T>A (p.Leu980Met)
|
|
|
NM_004082.5(DCTN1):c.2951C>T (p.Ala984Val)
|
|
|
NM_004082.5(DCTN1):c.2963A>T (p.Asp988Val)
|
|
|
NM_004082.5(DCTN1):c.2964T>A (p.Asp988Glu)
|
rs1674344495
|
|
NM_004082.5(DCTN1):c.2964T>G (p.Asp988Glu)
|
|
|
NM_004082.5(DCTN1):c.2968C>T (p.Arg990Cys)
|
|
|
NM_004082.5(DCTN1):c.2973C>G (p.Ile991Met)
|
rs140969689
|
|
NM_004082.5(DCTN1):c.2973C>T (p.Ile991=)
|
|
|
NM_004082.5(DCTN1):c.2974G>A (p.Glu992Lys)
|
rs768409522
|
|
NM_004082.5(DCTN1):c.2986A>G (p.Thr996Ala)
|
rs1558935430
|
|
NM_004082.5(DCTN1):c.2989C>T (p.Arg997Trp)
|
rs1030053524
|
|
NM_004082.5(DCTN1):c.2991G>C (p.Arg997=)
|
|
|
NM_004082.5(DCTN1):c.2992C>T (p.Leu998=)
|
|
|
NM_004082.5(DCTN1):c.3012G>T (p.Leu1004=)
|
|
|
NM_004082.5(DCTN1):c.3017G>A (p.Arg1006Gln)
|
rs752882353
|
|
NM_004082.5(DCTN1):c.3024G>A (p.Lys1008=)
|
|
|
NM_004082.5(DCTN1):c.3029+12T>G
|
|
|
NM_004082.5(DCTN1):c.3029+16T>C
|
|
|
NM_004082.5(DCTN1):c.3029+19G>T
|
rs201665169
|
|
NM_004082.5(DCTN1):c.3029+5G>A
|
|
|
NM_004082.5(DCTN1):c.3030-20G>A
|
|
|
NM_004082.5(DCTN1):c.3034T>C (p.Phe1012Leu)
|
rs1674319515
|
|
NM_004082.5(DCTN1):c.3045A>G (p.Thr1015=)
|
|
|
NM_004082.5(DCTN1):c.3046A>G (p.Met1016Val)
|
|
|
NM_004082.5(DCTN1):c.305A>G (p.Asp102Gly)
|
|
|
NM_004082.5(DCTN1):c.3067A>G (p.Ile1023Val)
|
|
|
NM_004082.5(DCTN1):c.3070G>A (p.Asp1024Asn)
|
rs1558935068
|
|
NM_004082.5(DCTN1):c.3096A>G (p.Glu1032=)
|
|
|
NM_004082.5(DCTN1):c.3106C>T (p.Arg1036Cys)
|
|
|
NM_004082.5(DCTN1):c.310A>G (p.Thr104Ala)
|
|
|
NM_004082.5(DCTN1):c.3125A>G (p.Lys1042Arg)
|
|
|
NM_004082.5(DCTN1):c.3129C>T (p.Arg1043=)
|
rs1354118647
|
|
NM_004082.5(DCTN1):c.3131C>T (p.Thr1044Met)
|
|
|
NM_004082.5(DCTN1):c.3132G>A (p.Thr1044=)
|
rs375157202
|
|
NM_004082.5(DCTN1):c.3133A>T (p.Ile1045Phe)
|
|
|
NM_004082.5(DCTN1):c.3134T>C (p.Ile1045Thr)
|
rs1187766749
|
|
NM_004082.5(DCTN1):c.3157C>G (p.Pro1053Ala)
|
|
|
NM_004082.5(DCTN1):c.3157C>T (p.Pro1053Ser)
|
|
|
NM_004082.5(DCTN1):c.316C>G (p.Pro106Ala)
|
|
|
NM_004082.5(DCTN1):c.3172A>T (p.Thr1058Ser)
|
rs1470101332
|
|
NM_004082.5(DCTN1):c.3174T>G (p.Thr1058=)
|
rs2104406793
|
|
NM_004082.5(DCTN1):c.3175C>G (p.Leu1059Val)
|
rs752323459
|
|
NM_004082.5(DCTN1):c.3177G>A (p.Leu1059=)
|
rs1213472053
|
|
NM_004082.5(DCTN1):c.3196+16T>C
|
rs773177686
|
|
NM_004082.5(DCTN1):c.3196+19G>A
|
rs1371299263
|
|
NM_004082.5(DCTN1):c.3197-11C>G
|
rs374292466
|
|
NM_004082.5(DCTN1):c.3197-16G>T
|
|
|
NM_004082.5(DCTN1):c.3197-19T>C
|
rs1258376234
|
|
NM_004082.5(DCTN1):c.3197-20A>G
|
|
|
NM_004082.5(DCTN1):c.3197-6G>A
|
|
|
NM_004082.5(DCTN1):c.3197-9C>T
|
|
|
NM_004082.5(DCTN1):c.31C>T (p.Arg11Trp)
|
|
|
NM_004082.5(DCTN1):c.3209G>A (p.Arg1070Gln)
|
|
|
NM_004082.5(DCTN1):c.3211+13T>G
|
|
|
NM_004082.5(DCTN1):c.3211+14C>G
|
|
|
NM_004082.5(DCTN1):c.3211+19C>G
|
rs377261118
|
|
NM_004082.5(DCTN1):c.3211+19C>T
|
|
|
NM_004082.5(DCTN1):c.3211+20G>A
|
|
|
NM_004082.5(DCTN1):c.3211+9C>G
|
|
|
NM_004082.5(DCTN1):c.3212-14dup
|
|
|
NM_004082.5(DCTN1):c.3212-20A>T
|
|
|
NM_004082.5(DCTN1):c.3212-2A>G
|
rs1674169667
|
|
NM_004082.5(DCTN1):c.3212-3C>T
|
|
|
NM_004082.5(DCTN1):c.3219C>T (p.Ile1073=)
|
|
|
NM_004082.5(DCTN1):c.3236G>A (p.Gly1079Glu)
|
|
|
NM_004082.5(DCTN1):c.3259G>C (p.Val1087Leu)
|
|
|
NM_004082.5(DCTN1):c.325C>A (p.Pro109Thr)
|
|
|
NM_004082.5(DCTN1):c.325_327dup (p.Pro109_Asp110insPro)
|
|
|
NM_004082.5(DCTN1):c.3279G>T (p.Leu1093=)
|
|
|
NM_004082.5(DCTN1):c.3280C>T (p.Leu1094Phe)
|
rs762263842
|
|
NM_004082.5(DCTN1):c.3286C>A (p.Gln1096Lys)
|
rs1246390551
|
|
NM_004082.5(DCTN1):c.3294T>C (p.Ser1098=)
|
|
|
NM_004082.5(DCTN1):c.3296C>T (p.Ala1099Val)
|
|
|
NM_004082.5(DCTN1):c.33+16C>G
|
|
|
NM_004082.5(DCTN1):c.33+16C>T
|
|
|
NM_004082.5(DCTN1):c.3303G>A (p.Arg1101=)
|
|
|
NM_004082.5(DCTN1):c.3310A>G (p.Ile1104Val)
|
|
|
NM_004082.5(DCTN1):c.3326A>G (p.His1109Arg)
|
rs1244901384
|
|
NM_004082.5(DCTN1):c.3328G>A (p.Glu1110Lys)
|
rs765267495
|
|
NM_004082.5(DCTN1):c.332C>A (p.Ser111Tyr)
|
rs374419252
|
|
NM_004082.5(DCTN1):c.332C>T (p.Ser111Phe)
|
|
|
NM_004082.5(DCTN1):c.3333C>T (p.Asn1111=)
|
|
|
NM_004082.5(DCTN1):c.3335G>C (p.Ser1112Thr)
|
|
|
NM_004082.5(DCTN1):c.3339C>A (p.Ile1113=)
|
|
|
NM_004082.5(DCTN1):c.3345+10C>T
|
rs1558932839
|
|
NM_004082.5(DCTN1):c.3345+17G>A
|
|
|
NM_004082.5(DCTN1):c.3345G>A (p.Lys1115=)
|
|
|
NM_004082.5(DCTN1):c.3346-17T>C
|
|
|
NM_004082.5(DCTN1):c.3350C>G (p.Ala1117Gly)
|
|
|
NM_004082.5(DCTN1):c.3375C>G (p.Ser1125=)
|
rs921121555
|
|
NM_004082.5(DCTN1):c.3378G>A (p.Leu1126=)
|
|
|
NM_004082.5(DCTN1):c.3391G>T (p.Val1131Phe)
|
rs1296558175
|
|
NM_004082.5(DCTN1):c.3397A>G (p.Lys1133Glu)
|
rs1064797254
|
|
NM_004082.5(DCTN1):c.34-13C>A
|
|
|
NM_004082.5(DCTN1):c.34-1G>C
|
|
|
NM_004082.5(DCTN1):c.34-20T>C
|
|
|
NM_004082.5(DCTN1):c.3400C>G (p.Leu1134Val)
|
|
|
NM_004082.5(DCTN1):c.3407A>G (p.His1136Arg)
|
rs1674138994
|
|
NM_004082.5(DCTN1):c.3408T>C (p.His1136=)
|
|
|
NM_004082.5(DCTN1):c.3417T>C (p.Pro1139=)
|
|
|
NM_004082.5(DCTN1):c.3420C>G (p.Gly1140=)
|
|
|
NM_004082.5(DCTN1):c.3422G>A (p.Ser1141Asn)
|
|
|
NM_004082.5(DCTN1):c.3425A>G (p.Glu1142Gly)
|
rs1573142045
|
|
NM_004082.5(DCTN1):c.3430C>A (p.Pro1144Thr)
|
rs1399568739
|
|
NM_004082.5(DCTN1):c.3434C>G (p.Ala1145Gly)
|
|
|
NM_004082.5(DCTN1):c.3445T>C (p.Tyr1149His)
|
|
|
NM_004082.5(DCTN1):c.345A>G (p.Lys115=)
|
rs1675303256
|
|
NM_004082.5(DCTN1):c.3461A>G (p.Gln1154Arg)
|
rs1674134327
|
|
NM_004082.5(DCTN1):c.3490A>T (p.Thr1164Ser)
|
rs72466493
|
|
NM_004082.5(DCTN1):c.3497C>G (p.Thr1166Arg)
|
rs376549770
|
|
NM_004082.5(DCTN1):c.3499C>A (p.His1167Asn)
|
rs2104395345
|
|
NM_004082.5(DCTN1):c.3511A>G (p.Ile1171Val)
|
|
|
NM_004082.5(DCTN1):c.3516T>G (p.Thr1172=)
|
|
|
NM_004082.5(DCTN1):c.3517C>T (p.Arg1173Cys)
|
rs1442881228
|
|
NM_004082.5(DCTN1):c.3529+13C>T
|
rs1674126281
|
|
NM_004082.5(DCTN1):c.3529+15A>G
|
|
|
NM_004082.5(DCTN1):c.3529+20C>T
|
rs890924549
|
|
NM_004082.5(DCTN1):c.3529+8C>G
|
|
|
NM_004082.5(DCTN1):c.3529+8C>T
|
rs547520298
|
|
NM_004082.5(DCTN1):c.3530-18A>G
|
rs767080798
|
|
NM_004082.5(DCTN1):c.3530-1G>A
|
rs2104393432
|
|
NM_004082.5(DCTN1):c.3537G>A (p.Lys1179=)
|
rs148146325
|
|
NM_004082.5(DCTN1):c.3537G>C (p.Lys1179Asn)
|
rs148146325
|
|
NM_004082.5(DCTN1):c.3540C>T (p.Ser1180=)
|
|
|
NM_004082.5(DCTN1):c.3542C>G (p.Pro1181Arg)
|
rs1403208705
|
|
NM_004082.5(DCTN1):c.3542C>T (p.Pro1181Leu)
|
rs1403208705
|
|
NM_004082.5(DCTN1):c.3547G>T (p.Ala1183Ser)
|
rs886056329
|
|
NM_004082.5(DCTN1):c.3556A>G (p.Met1186Val)
|
rs1477782343
|
|
NM_004082.5(DCTN1):c.3559G>C (p.Glu1187Gln)
|
rs1485769288
|
|
NM_004082.5(DCTN1):c.3564A>G (p.Gln1188=)
|
rs1674099395
|
|
NM_004082.5(DCTN1):c.3571C>A (p.Gln1191Lys)
|
|
|
NM_004082.5(DCTN1):c.358+17_358+18insGA
|
rs2103719288
|
|
NM_004082.5(DCTN1):c.3580T>G (p.Ser1194Ala)
|
|
|
NM_004082.5(DCTN1):c.3584T>G (p.Leu1195Arg)
|
|
|
NM_004082.5(DCTN1):c.359-6C>T
|
|
|
NM_004082.5(DCTN1):c.3595G>A (p.Val1199Ile)
|
rs538291598
|
|
NM_004082.5(DCTN1):c.3609+17dup
|
|
|
NM_004082.5(DCTN1):c.3609+20C>T
|
|
|
NM_004082.5(DCTN1):c.3610-13_3612del
|
rs2104389854
|
|
NM_004082.5(DCTN1):c.3610-16C>T
|
|
|
NM_004082.5(DCTN1):c.3610-17C>G
|
rs2104390002
|
|
NM_004082.5(DCTN1):c.3610-20C>T
|
|
|
NM_004082.5(DCTN1):c.3610-5C>G
|
|
|
NM_004082.5(DCTN1):c.3610-5C>T
|
|
|
NM_004082.5(DCTN1):c.3615G>T (p.Glu1205Asp)
|
|
|
NM_004082.5(DCTN1):c.3629C>G (p.Thr1210Arg)
|
rs565866230
|
|
NM_004082.5(DCTN1):c.3638_3640del (p.Gln1213del)
|
rs1364182022
|
|
NM_004082.5(DCTN1):c.3643C>T (p.Pro1215Ser)
|
rs184147813
|
|
NM_004082.5(DCTN1):c.3645T>C (p.Pro1215=)
|
|
|
NM_004082.5(DCTN1):c.3650C>G (p.Ala1217Gly)
|
|
|
NM_004082.5(DCTN1):c.3652A>G (p.Thr1218Ala)
|
rs886070472
|
|
NM_004082.5(DCTN1):c.3659C>A (p.Pro1220His)
|
rs1276978486
|
|
NM_004082.5(DCTN1):c.3664G>A (p.Asp1222Asn)
|
|
|
NM_004082.5(DCTN1):c.3683C>T (p.Ser1228Leu)
|
|
|
NM_004082.5(DCTN1):c.3684A>G (p.Ser1228=)
|
|
|
NM_004082.5(DCTN1):c.3693C>T (p.Phe1231=)
|
rs1573138460
|
|
NM_004082.5(DCTN1):c.3694C>G (p.Leu1232Val)
|
|
|
NM_004082.5(DCTN1):c.3699+11G>A
|
|
|
NM_004082.5(DCTN1):c.3699+12_3699+23del
|
rs769645845
|
|
NM_004082.5(DCTN1):c.3699+18_3699+29del
|
rs780978911
|
|
NM_004082.5(DCTN1):c.3699+18del
|
|
|
NM_004082.5(DCTN1):c.3699+8_3699+9dup
|
|
|
NM_004082.5(DCTN1):c.3699+9dup
|
rs542984299
|
|
NM_004082.5(DCTN1):c.3700-18C>A
|
|
|
NM_004082.5(DCTN1):c.3700-18C>T
|
|
|
NM_004082.5(DCTN1):c.3700-20T>C
|
|
|
NM_004082.5(DCTN1):c.3700-3C>G
|
|
|
NM_004082.5(DCTN1):c.3700-3C>T
|
rs747435830
|
|
NM_004082.5(DCTN1):c.3700-4C>T
|
rs1182597936
|
|
NM_004082.5(DCTN1):c.3700-6C>A
|
|
|
NM_004082.5(DCTN1):c.3700-6C>T
|
rs371163273
|
|
NM_004082.5(DCTN1):c.3701C>T (p.Ala1234Val)
|
rs1200946425
|
|
NM_004082.5(DCTN1):c.3709G>A (p.Glu1237Lys)
|
|
|
NM_004082.5(DCTN1):c.3711G>A (p.Glu1237=)
|
|
|
NM_004082.5(DCTN1):c.371C>G (p.Thr124Arg)
|
rs769430160
|
|
NM_004082.5(DCTN1):c.3726A>T (p.Thr1242=)
|
|
|
NM_004082.5(DCTN1):c.3731A>G (p.Tyr1244Cys)
|
rs752422008
|
|
NM_004082.5(DCTN1):c.3741A>C (p.Lys1247Asn)
|
rs2104386809
|
|
NM_004082.5(DCTN1):c.3747C>G (p.Thr1249=)
|
rs759710617
|
|
NM_004082.5(DCTN1):c.3747C>T (p.Thr1249=)
|
rs759710617
|
|
NM_004082.5(DCTN1):c.374C>T (p.Thr125Ile)
|
rs1275593815
|
|
NM_004082.5(DCTN1):c.3750C>G (p.Phe1250Leu)
|
rs1673994728
|
|
NM_004082.5(DCTN1):c.3751T>G (p.Ser1251Ala)
|
rs766778493
|
|
NM_004082.5(DCTN1):c.3752C>T (p.Ser1251Leu)
|
|
|
NM_004082.5(DCTN1):c.3754T>C (p.Cys1252Arg)
|
rs1238095268
|
|
NM_004082.5(DCTN1):c.376G>A (p.Ala126Thr)
|
rs1553466338
|
|
NM_004082.5(DCTN1):c.3778C>T (p.His1260Tyr)
|
rs1375787578
|
|
NM_004082.5(DCTN1):c.3780C>T (p.His1260=)
|
|
|
NM_004082.5(DCTN1):c.3783G>T (p.Arg1261=)
|
rs779676968
|
|
NM_004082.5(DCTN1):c.3787G>A (p.Val1263Met)
|
rs2104386411
|
|
NM_004082.5(DCTN1):c.378A>G (p.Ala126=)
|
|
|
NM_004082.5(DCTN1):c.3797A>G (p.Gln1266Arg)
|
|
|
NM_004082.5(DCTN1):c.3799G>A (p.Glu1267Lys)
|
rs146083590
|
|
NM_004082.5(DCTN1):c.3799G>C (p.Glu1267Gln)
|
rs146083590
|
|
NM_004082.5(DCTN1):c.3803A>G (p.Gln1268Arg)
|
rs751431467
|
|
NM_004082.5(DCTN1):c.3811C>G (p.Gln1271Glu)
|
rs1673987624
|
|
NM_004082.5(DCTN1):c.3820A>C (p.Ser1274Arg)
|
|
|
NM_004082.5(DCTN1):c.3828C>T (p.Leu1276=)
|
rs374006190
|
|
NM_004082.5(DCTN1):c.3830T>C (p.Ile1277Thr)
|
|
|
NM_004082.5(DCTN1):c.3834C>T (p.Ser1278=)
|
|
|
NM_004082.5(DCTN1):c.391C>G (p.Leu131Val)
|
|
|
NM_004082.5(DCTN1):c.393+15G>A
|
|
|
NM_004082.5(DCTN1):c.393+15G>T
|
rs535614130
|
|
NM_004082.5(DCTN1):c.393+16del
|
rs529200706
|
|
NM_004082.5(DCTN1):c.393G>A (p.Leu131=)
|
|
|
NM_004082.5(DCTN1):c.394-10C>T
|
rs541163314
|
|
NM_004082.5(DCTN1):c.394-17dup
|
rs771736182
|
|
NM_004082.5(DCTN1):c.394-20C>T
|
|
|
NM_004082.5(DCTN1):c.394-2dup
|
rs1403988786
|
|
NM_004082.5(DCTN1):c.394-3C>T
|
|
|
NM_004082.5(DCTN1):c.394-9_394-7del
|
rs932190621
|
|
NM_004082.5(DCTN1):c.394C>T (p.Arg132Trp)
|
|
|
NM_004082.5(DCTN1):c.403A>C (p.Lys135Gln)
|
rs1675250026
|
|
NM_004082.5(DCTN1):c.414+12A>C
|
|
|
NM_004082.5(DCTN1):c.414+1G>T
|
rs576198476
|
|
NM_004082.5(DCTN1):c.415-5G>A
|
rs2103694423
|
|
NM_004082.5(DCTN1):c.419C>A (p.Pro140Gln)
|
|
|
NM_004082.5(DCTN1):c.419C>T (p.Pro140Leu)
|
rs147939455
|
|
NM_004082.5(DCTN1):c.41G>T (p.Ser14Ile)
|
|
|
NM_004082.5(DCTN1):c.422C>G (p.Thr141Arg)
|
rs2103694207
|
|
NM_004082.5(DCTN1):c.425C>T (p.Ala142Val)
|
|
|
NM_004082.5(DCTN1):c.427C>G (p.Arg143Gly)
|
rs781290307
|
|
NM_004082.5(DCTN1):c.428G>A (p.Arg143Gln)
|
rs764615912
|
|
NM_004082.5(DCTN1):c.428G>C (p.Arg143Pro)
|
|
|
NM_004082.5(DCTN1):c.432+10C>T
|
rs758964727
|
|
NM_004082.5(DCTN1):c.432+14C>T
|
|
|
NM_004082.5(DCTN1):c.432+18C>A
|
rs201820150
|
|
NM_004082.5(DCTN1):c.432+18C>T
|
rs201820150
|
|
NM_004082.5(DCTN1):c.432+19G>A
|
rs375037820
|
|
NM_004082.5(DCTN1):c.432+19G>C
|
|
|
NM_004082.5(DCTN1):c.432+19G>T
|
|
|
NM_004082.5(DCTN1):c.432+1G>T
|
rs1235693710
|
|
NM_004082.5(DCTN1):c.433-17T>A
|
|
|
NM_004082.5(DCTN1):c.433-3C>T
|
rs375832615
|
|
NM_004082.5(DCTN1):c.433-9C>T
|
|
|
NM_004082.5(DCTN1):c.434C>G (p.Thr145Ser)
|
|
|
NM_004082.5(DCTN1):c.442C>G (p.Arg148Gly)
|
rs148810193
|
|
NM_004082.5(DCTN1):c.453+14C>A
|
|
|
NM_004082.5(DCTN1):c.453+15C>T
|
|
|
NM_004082.5(DCTN1):c.453+6A>G
|
|
|
NM_004082.5(DCTN1):c.454-12C>T
|
|
|
NM_004082.5(DCTN1):c.454-17C>T
|
|
|
NM_004082.5(DCTN1):c.454-7T>C
|
rs1275843862
|
|
NM_004082.5(DCTN1):c.475G>T (p.Gly159Trp)
|
|
|
NM_004082.5(DCTN1):c.487G>T (p.Ala163Ser)
|
rs746429168
|
|
NM_004082.5(DCTN1):c.495C>T (p.Ser165=)
|
|
|
NM_004082.5(DCTN1):c.518C>G (p.Ala173Gly)
|
rs1445980252
|
|
NM_004082.5(DCTN1):c.518C>T (p.Ala173Val)
|
rs1445980252
|
|
NM_004082.5(DCTN1):c.519G>A (p.Ala173=)
|
rs376565787
|
|
NM_004082.5(DCTN1):c.51G>T (p.Arg17Ser)
|
|
|
NM_004082.5(DCTN1):c.524C>T (p.Ala175Val)
|
|
|
NM_004082.5(DCTN1):c.528T>G (p.Gly176=)
|
|
|
NM_004082.5(DCTN1):c.537C>T (p.Ser179=)
|
|
|
NM_004082.5(DCTN1):c.539G>A (p.Ser180Asn)
|
rs1365948671
|
|
NM_004082.5(DCTN1):c.540C>T (p.Ser180=)
|
|
|
NM_004082.5(DCTN1):c.546G>A (p.Glu182=)
|
|
|
NM_004082.5(DCTN1):c.547C>T (p.Pro183Ser)
|
rs1674861180
|
|
NM_004082.5(DCTN1):c.549C>T (p.Pro183=)
|
|
|
NM_004082.5(DCTN1):c.557C>G (p.Pro186Arg)
|
|
|
NM_004082.5(DCTN1):c.562C>G (p.Gln188Glu)
|
|
|
NM_004082.5(DCTN1):c.570G>T (p.Pro190=)
|
rs528908728
|
|
NM_004082.5(DCTN1):c.577G>A (p.Ala193Thr)
|
|
|
NM_004082.5(DCTN1):c.581C>T (p.Pro194Leu)
|
rs1057518814
|
|
NM_004082.5(DCTN1):c.588C>T (p.Ile196=)
|
rs761974691
|
|
NM_004082.5(DCTN1):c.589C>T (p.Pro197Ser)
|
|
|
NM_004082.5(DCTN1):c.593C>T (p.Thr198Met)
|
|
|
NM_004082.5(DCTN1):c.5C>T (p.Ala2Val)
|
rs1675439973
|
|
NM_004082.5(DCTN1):c.605C>T (p.Thr202Ile)
|
|
|
NM_004082.5(DCTN1):c.606C>G (p.Thr202=)
|
|
|
NM_004082.5(DCTN1):c.611C>T (p.Pro204Leu)
|
|
|
NM_004082.5(DCTN1):c.622C>T (p.Pro208Ser)
|
rs770302677
|
|
NM_004082.5(DCTN1):c.626C>A (p.Pro209Gln)
|
rs112725508
|
|
NM_004082.5(DCTN1):c.626C>G (p.Pro209Arg)
|
rs112725508
|
|
NM_004082.5(DCTN1):c.626C>T (p.Pro209Leu)
|
rs112725508
|
|
NM_004082.5(DCTN1):c.626dup (p.Leu210fs)
|
|
|
NM_004082.5(DCTN1):c.627G>A (p.Pro209=)
|
rs147673066
|
|
NM_004082.5(DCTN1):c.627G>C (p.Pro209=)
|
|
|
NM_004082.5(DCTN1):c.627G>T (p.Pro209=)
|
rs147673066
|
|
NM_004082.5(DCTN1):c.629T>G (p.Leu210Arg)
|
rs1558943273
|
|
NM_004082.5(DCTN1):c.638C>T (p.Pro213Leu)
|
rs754827026
|
|
NM_004082.5(DCTN1):c.645+11G>T
|
|
|
NM_004082.5(DCTN1):c.645+19G>A
|
|
|
NM_004082.5(DCTN1):c.645+8C>T
|
rs1170361781
|
|
NM_004082.5(DCTN1):c.646-20G>A
|
|
|
NM_004082.5(DCTN1):c.646-9C>T
|
rs771722291
|
|
NM_004082.5(DCTN1):c.660A>G (p.Leu220=)
|
|
|
NM_004082.5(DCTN1):c.663G>A (p.Arg221=)
|
rs1573164850
|
|
NM_004082.5(DCTN1):c.694G>C (p.Glu232Gln)
|
rs1573164746
|
|
NM_004082.5(DCTN1):c.69C>T (p.Ser23=)
|
|
|
NM_004082.5(DCTN1):c.70G>A (p.Ala24Thr)
|
rs372733713
|
|
NM_004082.5(DCTN1):c.70G>T (p.Ala24Ser)
|
|
|
NM_004082.5(DCTN1):c.713G>A (p.Arg238Gln)
|
|
|
NM_004082.5(DCTN1):c.714G>T (p.Arg238=)
|
|
|
NM_004082.5(DCTN1):c.727G>T (p.Ala243Ser)
|
rs1674806644
|
|
NM_004082.5(DCTN1):c.742C>G (p.Leu248Val)
|
rs112475795
|
|
NM_004082.5(DCTN1):c.74G>A (p.Arg25Gln)
|
|
|
NM_004082.5(DCTN1):c.786G>A (p.Lys262=)
|
rs1573164518
|
|
NM_004082.5(DCTN1):c.793A>C (p.Met265Leu)
|
|
|
NM_004082.5(DCTN1):c.793A>T (p.Met265Leu)
|
rs2103663572
|
|
NM_004082.5(DCTN1):c.809C>T (p.Ala270Val)
|
|
|
NM_004082.5(DCTN1):c.810C>G (p.Ala270=)
|
rs569011011
|
|
NM_004082.5(DCTN1):c.820C>T (p.Arg274Trp)
|
|
|
NM_004082.5(DCTN1):c.82C>T (p.Arg28Trp)
|
|
|
NM_004082.5(DCTN1):c.833A>T (p.Glu278Val)
|
rs1553465344
|
|
NM_004082.5(DCTN1):c.835G>A (p.Ala279Thr)
|
rs1674798940
|
|
NM_004082.5(DCTN1):c.840A>G (p.Arg280=)
|
|
|
NM_004082.5(DCTN1):c.843+13A>G
|
|
|
NM_004082.5(DCTN1):c.843+14T>G
|
|
|
NM_004082.5(DCTN1):c.843+18G>A
|
|
|
NM_004082.5(DCTN1):c.843+19G>A
|
rs556822905
|
|
NM_004082.5(DCTN1):c.843+19G>C
|
|
|
NM_004082.5(DCTN1):c.843+19G>T
|
rs556822905
|
|
NM_004082.5(DCTN1):c.843+7C>T
|
|
|
NM_004082.5(DCTN1):c.844-17C>T
|
|
|
NM_004082.5(DCTN1):c.844-2A>G
|
rs2103661242
|
|
NM_004082.5(DCTN1):c.851A>G (p.Lys284Arg)
|
rs755017882
|
|
NM_004082.5(DCTN1):c.852G>A (p.Lys284=)
|
|
|
NM_004082.5(DCTN1):c.857C>T (p.Ala286Val)
|
rs896989123
|
|
NM_004082.5(DCTN1):c.858G>A (p.Ala286=)
|
rs151107870
|
|
NM_004082.5(DCTN1):c.858G>T (p.Ala286=)
|
rs151107870
|
|
NM_004082.5(DCTN1):c.874C>T (p.Arg292Cys)
|
rs1200414397
|
|
NM_004082.5(DCTN1):c.879T>C (p.Tyr293=)
|
|
|
NM_004082.5(DCTN1):c.885G>A (p.Glu295=)
|
rs1219824885
|
|
NM_004082.5(DCTN1):c.900T>A (p.Thr300=)
|
|
|
NM_004082.5(DCTN1):c.903T>C (p.Ala301=)
|
rs2103660730
|
|
NM_004082.5(DCTN1):c.909C>T (p.Ala303=)
|
rs1206939326
|
|
NM_004082.5(DCTN1):c.920C>G (p.Ala307Gly)
|
rs759253635
|
|
NM_004082.5(DCTN1):c.921C>T (p.Ala307=)
|
|
|
NM_004082.5(DCTN1):c.949C>T (p.Arg317Trp)
|
|
|
NM_004082.5(DCTN1):c.954T>C (p.Ala318=)
|
|
|
NM_004082.5(DCTN1):c.95G>A (p.Arg32His)
|
|
|
NM_004082.5(DCTN1):c.969G>A (p.Gln323=)
|
|
|
NM_004082.5(DCTN1):c.986A>G (p.Lys329Arg)
|
rs760539371
|
|
NM_004082.5(DCTN1):c.990G>A (p.Glu330=)
|
rs2103660210
|
|
NM_004082.5(DCTN1):c.991C>T (p.Arg331Trp)
|
rs1064797256
|
|
NM_004082.5(DCTN1):c.992G>A (p.Arg331Gln)
|
|
|
NM_004082.5(DCTN1):c.999C>A (p.Asp333Glu)
|
|
|
NM_004082.5(DCTN1):c.999C>G (p.Asp333Glu)
|
rs200952455
|
|
NM_004082.5(DCTN1):c.999C>T (p.Asp333=)
|
rs200952455
|
|
NM_004181.5(UCHL1):c.*250T>C
|
rs564857603
|
|
NM_004181.5(UCHL1):c.-16C>T
|
rs9321
|
|
NM_004181.5(UCHL1):c.-46T>C
|
rs901082145
|
|
NM_004181.5(UCHL1):c.-47C>T
|
rs752001613
|
|
NM_004181.5(UCHL1):c.174+6G>A
|
rs1379113927
|
|
NM_004181.5(UCHL1):c.223G>A (p.Val75Ile)
|
rs148096293
|
|
NM_004181.5(UCHL1):c.279C>G (p.Ile93Met)
|
rs121917767
|
|
NM_004181.5(UCHL1):c.326-4del
|
rs3214812
|
|
NM_004181.5(UCHL1):c.33+5G>C
|
rs886059407
|
|
NM_004181.5(UCHL1):c.586-4C>A
|
rs1431899503
|
|
NM_004562.2(PRKN):c.172-?_871+?del
|
|
|
NM_004562.2(PRKN):c.413-?_534+?del
|
|
|
NM_004562.2(PRKN):c.735-?_871+?del
|
|
|
NM_004562.2(PRKN):c.8-?_171+?del
|
|
|
NM_004562.2(PRKN):c.872-?_1083+?del
|
|
|
NM_004562.3(PRKN):c.*1024TC[2]
|
rs886061233
|
|
NM_004562.3(PRKN):c.*108AC[5]
|
rs575581029
|
|
NM_004562.3(PRKN):c.*1102C>G
|
rs924908743
|
|
NM_004562.3(PRKN):c.*1156C>G
|
rs886061232
|
|
NM_004562.3(PRKN):c.*1281C>T
|
rs571904443
|
|
NM_004562.3(PRKN):c.*140A>G
|
rs1182122095
|
|
NM_004562.3(PRKN):c.*1500C>T
|
rs1784415095
|
|
NM_004562.3(PRKN):c.*2022T>C
|
rs886061230
|
|
NM_004562.3(PRKN):c.*2363C>A
|
rs12215447
|
|
NM_004562.3(PRKN):c.*2524CA[1]
|
rs761920927
|
|
NM_004562.3(PRKN):c.*301G>C
|
rs576586040
|
|
NM_004562.3(PRKN):c.*372C>G
|
rs764753874
|
|
NM_004562.3(PRKN):c.*433C>G
|
rs1784443204
|
|
NM_004562.3(PRKN):c.*472T>C
|
rs886061235
|
|
NM_004562.3(PRKN):c.*887_*890del
|
rs572345942
|
|
NM_004562.3(PRKN):c.-78C>A
|
rs765761156
|
|
NM_004562.3(PRKN):c.101del (p.Gln34fs)
|
rs748142049
|
|
NM_004562.3(PRKN):c.1041G>A (p.Gln347=)
|
rs766121894
|
|
NM_004562.3(PRKN):c.1056C>T (p.Cys352=)
|
rs780996466
|
|
NM_004562.3(PRKN):c.1083+1del
|
rs2115426221
|
|
NM_004562.3(PRKN):c.1138G>C (p.Val380Leu)
|
rs1801582
|
|
NM_004562.3(PRKN):c.1193C>T (p.Ala398Val)
|
rs1784919731
|
|
NM_004562.3(PRKN):c.1205G>A (p.Arg402His)
|
rs766915327
|
|
NM_004562.3(PRKN):c.1213G>A (p.Ala405Thr)
|
rs886061237
|
|
NM_004562.3(PRKN):c.125G>A (p.Arg42His)
|
rs368134308
|
|
NM_004562.3(PRKN):c.1292G>T (p.Cys431Phe)
|
rs397514694
|
|
NM_004562.3(PRKN):c.1301T>C (p.Met434Thr)
|
rs1582953433
|
|
NM_004562.3(PRKN):c.1302G>A (p.Met434Ile)
|
rs949479970
|
|
NM_004562.3(PRKN):c.1358G>A (p.Trp453Ter)
|
rs137853056
|
|
NM_004562.3(PRKN):c.155del (p.Asn52fs)
|
rs754809877
|
|
NM_004562.3(PRKN):c.172-38dup
|
rs751742289
|
|
NM_004562.3(PRKN):c.174T>C (p.Asn58=)
|
rs536687809
|
|
NM_004562.3(PRKN):c.220_221dup (p.Trp74fs)
|
rs746646126
|
|
NM_004562.3(PRKN):c.245C>A (p.Ala82Glu)
|
rs55774500
|
|
NM_004562.3(PRKN):c.44T>C (p.Val15Ala)
|
|
|
NM_004562.3(PRKN):c.483A>T (p.Lys161Asn)
|
rs137853057
|
|
NM_004562.3(PRKN):c.488G>A (p.Arg163Lys)
|
|
|
NM_004562.3(PRKN):c.491del (p.Val164fs)
|
rs2128330405
|
|
NM_004562.3(PRKN):c.594C>T (p.Ser198=)
|
rs1777760361
|
|
NM_004562.3(PRKN):c.600C>T (p.His200=)
|
rs72480421
|
|
NM_004562.3(PRKN):c.618+7842_618+7934inv
|
|
|
NM_004562.3(PRKN):c.7+1G>T
|
rs397518439
|
|
NM_004562.3(PRKN):c.7+4C>T
|
rs749081702
|
|
NM_004562.3(PRKN):c.719C>G (p.Thr240Arg)
|
rs137853054
|
|
NM_004562.3(PRKN):c.73C>T (p.Gln25Ter)
|
rs1440010564
|
|
NM_004562.3(PRKN):c.892A>T (p.Ile298Phe)
|
rs1273010274
|
|
NM_004562.3(PRKN):c.915G>T (p.Arg305Ser)
|
rs2115480005
|
|
NM_004562.3(PRKN):c.931C>T (p.Gln311Ter)
|
rs137853055
|
|
NM_004562.3(PRKN):c.971del (p.Val324fs)
|
rs1562519380
|
|
NM_004562.3:c.536_735del
|
|
|
NM_004606.5(TAF1):c.1474A>T (p.Met492Leu)
|
rs2033909793
|
|
NM_004606.5(TAF1):c.1632G>T (p.Gly544=)
|
|
|
NM_004606.5(TAF1):c.2551G>A (p.Ala851Thr)
|
|
|
NM_004606.5(TAF1):c.3796G>A (p.Gly1266Arg)
|
rs2148443174
|
|
NM_004606.5(TAF1):c.4427A>C (p.Asp1476Ala)
|
rs1060499594
|
|
NM_004736.4(XPR1):c.1135-8dup
|
rs113553362
|
|
NM_004736.4(XPR1):c.1811G>A (p.Arg604Gln)
|
rs2102226595
|
|
NM_004736.4(XPR1):c.407G>A (p.Ser136Asn)
|
rs786205902
|
|
NM_004736.4(XPR1):c.419T>C (p.Leu140Pro)
|
rs786205903
|
|
NM_004736.4(XPR1):c.434T>C (p.Leu145Pro)
|
rs786205901
|
|
NM_004736.4(XPR1):c.653T>C (p.Leu218Ser)
|
rs786205904
|
|
NM_004736.4(XPR1):c.66T>C (p.Tyr22=)
|
|
|
NM_004993.6(ATXN3):c.892CAG[8_36]
|
rs193922928
|
|
NM_005216.4(DDOST):c.*807_*5409del
|
|
|
NM_005324.5(H3-3B):c.354C>A (p.Val118=)
|
rs766432479
|
|
NM_005765.3(ATP6AP2):c.345C>T (p.Ser115=)
|
rs397518480
|
|
NM_006186.3(NR4A2):c.-437A>G
|
rs1686993973
|
|
NM_006186.4(NR4A2):c.*822A>C
|
rs886054975
|
|
NM_006186.4(NR4A2):c.-144G>A
|
rs886054979
|
|
NM_006186.4(NR4A2):c.-241C>G
|
rs536532102
|
|
NM_006186.4(NR4A2):c.-245T>G
|
rs2105626807
|
|
NM_006186.4(NR4A2):c.-291del
|
|
|
NM_006186.4(NR4A2):c.1170C>A (p.Asn390Lys)
|
rs1486481129
|
|
NM_006186.4(NR4A2):c.1588A>C (p.Lys530Gln)
|
rs1686624142
|
|
NM_006186.4(NR4A2):c.1635G>T (p.Gly545=)
|
rs886054978
|
|
NM_006186.4(NR4A2):c.1638G>A (p.Leu546=)
|
rs528222526
|
|
NM_006186.4(NR4A2):c.325C>A (p.Gln109Lys)
|
rs747551776
|
|
NM_006186.4(NR4A2):c.591C>A (p.Pro197=)
|
rs769738246
|
|
NM_006186.4(NR4A2):c.881dup (p.Asn294fs)
|
rs1686760554
|
|
NM_006186.4(NR4A2):c.896G>T (p.Cys299Phe)
|
rs2105605264
|
|
NM_007262.4(PARK7):c.[-24+75_-24+92dup;487G>A]
|
|
|
NM_007262.5(PARK7):c.*185T>A
|
rs1640796249
|
|
NM_007262.5(PARK7):c.101C>T (p.Thr34Ile)
|
rs772272696
|
|
NM_007262.5(PARK7):c.103G>A (p.Val35Ile)
|
|
|
NM_007262.5(PARK7):c.105dup (p.Ala36fs)
|
rs781600849
|
|
NM_007262.5(PARK7):c.142C>T (p.Arg48Cys)
|
|
|
NM_007262.5(PARK7):c.191_192del (p.Glu64fs)
|
rs1553122929
|
|
NM_007262.5(PARK7):c.193-13dup
|
rs768623509
|
|
NM_007262.5(PARK7):c.193-17G>A
|
rs2151431064
|
|
NM_007262.5(PARK7):c.223G>A (p.Gly75Ser)
|
rs886046545
|
|
NM_007262.5(PARK7):c.233G>A (p.Gly78Asp)
|
rs2151431134
|
|
NM_007262.5(PARK7):c.252+8A>G
|
|
|
NM_007262.5(PARK7):c.252+8dup
|
rs781094807
|
|
NM_007262.5(PARK7):c.253T>C (p.Ser85Pro)
|
rs2151432344
|
|
NM_007262.5(PARK7):c.271A>G (p.Ile91Val)
|
rs2151432369
|
|
NM_007262.5(PARK7):c.273A>C (p.Ile91=)
|
|
|
NM_007262.5(PARK7):c.300C>T (p.Gly100=)
|
|
|
NM_007262.5(PARK7):c.302T>C (p.Leu101Pro)
|
rs2151432401
|
|
NM_007262.5(PARK7):c.309C>T (p.Ala103=)
|
|
|
NM_007262.5(PARK7):c.322+12G>A
|
rs1640453503
|
|
NM_007262.5(PARK7):c.322+6G>A
|
|
|
NM_007262.5(PARK7):c.322G>A (p.Gly108Ser)
|
rs1252815484
|
|
NM_007262.5(PARK7):c.323-10T>A
|
|
|
NM_007262.5(PARK7):c.323-16T>C
|
|
|
NM_007262.5(PARK7):c.323-20C>A
|
|
|
NM_007262.5(PARK7):c.399G>C (p.Met133Ile)
|
rs398124657
|
|
NM_007262.5(PARK7):c.409+18TTTG[3]
|
rs751547694
|
|
NM_007262.5(PARK7):c.409+18TTTG[5]
|
rs751547694
|
|
NM_007262.5(PARK7):c.425C>T (p.Ser142Phe)
|
rs1640786376
|
|
NM_007262.5(PARK7):c.444dup (p.Asp149fs)
|
|
|
NM_007262.5(PARK7):c.482G>C (p.Ser161Thr)
|
|
|
NM_007262.5(PARK7):c.494C>T (p.Ala165Val)
|
|
|
NM_007262.5(PARK7):c.497T>C (p.Leu166Pro)
|
rs28938172
|
|
NM_007262.5(PARK7):c.500C>G (p.Ala167Gly)
|
rs886046546
|
|
NM_007262.5(PARK7):c.511G>T (p.Ala171Ser)
|
rs777026628
|
|
NM_007262.5(PARK7):c.515T>A (p.Leu172Gln)
|
|
|
NM_007262.5(PARK7):c.534G>A (p.Ala178=)
|
|
|
NM_007262.5(PARK7):c.54G>A (p.Glu18=)
|
|
|
NM_007262.5(PARK7):c.78G>A (p.Met26Ile)
|
rs74315351
|
|
NM_007262.5(PARK7):c.82C>T (p.Arg28Ter)
|
rs374429170
|
|
NM_007262.5(PARK7):c.90+1dup
|
rs1578089802
|
|
NM_007262.5(PARK7):c.91-4G>C
|
|
|
NM_007262.5(PARK7):c.91A>G (p.Ile31Val)
|
rs749054218
|
|
NM_007262.5(PARK7):c.96G>A (p.Lys32=)
|
|
|
NM_012084.4(GLUD2):c.256G>A (p.Val86Met)
|
|
|
NM_012179.3(FBXO7):c.[274G>C];[520T>A]
|
|
|
NM_012179.4(FBXO7):c.*104T>C
|
rs1601521158
|
|
NM_012179.4(FBXO7):c.-118T>G
|
rs886057418
|
|
NM_012179.4(FBXO7):c.100C>T (p.Leu34=)
|
|
|
NM_012179.4(FBXO7):c.1026G>C (p.Arg342=)
|
|
|
NM_012179.4(FBXO7):c.1033C>T (p.Arg345Ter)
|
|
|
NM_012179.4(FBXO7):c.1041G>A (p.Leu347=)
|
|
|
NM_012179.4(FBXO7):c.1048C>T (p.Arg350Cys)
|
|
|
NM_012179.4(FBXO7):c.1053C>T (p.Ser351=)
|
|
|
NM_012179.4(FBXO7):c.1062T>G (p.Ser354=)
|
|
|
NM_012179.4(FBXO7):c.1071G>A (p.Ala357=)
|
|
|
NM_012179.4(FBXO7):c.1082A>G (p.Asp361Gly)
|
|
|
NM_012179.4(FBXO7):c.1086C>T (p.Leu362=)
|
rs1348830671
|
|
NM_012179.4(FBXO7):c.1132C>G (p.Arg378Gly)
|
rs71799110
|
|
NM_012179.4(FBXO7):c.1141C>T (p.Arg381Ter)
|
|
|
NM_012179.4(FBXO7):c.1144+10G>A
|
|
|
NM_012179.4(FBXO7):c.1144+10G>T
|
|
|
NM_012179.4(FBXO7):c.1144+19T>C
|
|
|
NM_012179.4(FBXO7):c.1144+1G>T
|
rs730880272
|
|
NM_012179.4(FBXO7):c.1145-14C>A
|
|
|
NM_012179.4(FBXO7):c.1145-20T>G
|
|
|
NM_012179.4(FBXO7):c.1145-8del
|
|
|
NM_012179.4(FBXO7):c.1145-9C>A
|
|
|
NM_012179.4(FBXO7):c.1155C>G (p.Val385=)
|
|
|
NM_012179.4(FBXO7):c.117G>T (p.Gly39=)
|
|
|
NM_012179.4(FBXO7):c.1181_1182+1del
|
rs2057568606
|
|
NM_012179.4(FBXO7):c.1182+12T>A
|
|
|
NM_012179.4(FBXO7):c.1182+7A>G
|
|
|
NM_012179.4(FBXO7):c.1183-10T>A
|
|
|
NM_012179.4(FBXO7):c.1183-11T>G
|
|
|
NM_012179.4(FBXO7):c.1183-19_1183-16del
|
|
|
NM_012179.4(FBXO7):c.1183-20T>C
|
|
|
NM_012179.4(FBXO7):c.1183-2_1183-1del
|
|
|
NM_012179.4(FBXO7):c.1183-7T>C
|
|
|
NM_012179.4(FBXO7):c.1183-7del
|
|
|
NM_012179.4(FBXO7):c.1183-9T>C
|
|
|
NM_012179.4(FBXO7):c.1183C>T (p.Leu395=)
|
|
|
NM_012179.4(FBXO7):c.1188C>A (p.Tyr396Ter)
|
|
|
NM_012179.4(FBXO7):c.1198C>A (p.His400Asn)
|
rs2057587664
|
|
NM_012179.4(FBXO7):c.1206_1207dup (p.Arg403fs)
|
rs749019340
|
|
NM_012179.4(FBXO7):c.120C>T (p.Tyr40=)
|
|
|
NM_012179.4(FBXO7):c.1215A>G (p.Glu405=)
|
|
|
NM_012179.4(FBXO7):c.1218C>T (p.Ser406=)
|
|
|
NM_012179.4(FBXO7):c.122+10G>T
|
|
|
NM_012179.4(FBXO7):c.122+13C>T
|
|
|
NM_012179.4(FBXO7):c.122+14G>C
|
|
|
NM_012179.4(FBXO7):c.122+16G>A
|
|
|
NM_012179.4(FBXO7):c.122+17G>A
|
|
|
NM_012179.4(FBXO7):c.122+3A>G
|
|
|
NM_012179.4(FBXO7):c.122+7dup
|
|
|
NM_012179.4(FBXO7):c.1220del (p.Pro407fs)
|
|
|
NM_012179.4(FBXO7):c.1221G>T (p.Pro407=)
|
|
|
NM_012179.4(FBXO7):c.123-12C>T
|
|
|
NM_012179.4(FBXO7):c.123-20T>C
|
|
|
NM_012179.4(FBXO7):c.123-20T>G
|
|
|
NM_012179.4(FBXO7):c.1236G>A (p.Val412=)
|
|
|
NM_012179.4(FBXO7):c.1236G>T (p.Val412=)
|
|
|
NM_012179.4(FBXO7):c.1248A>G (p.Pro416=)
|
|
|
NM_012179.4(FBXO7):c.1251G>A (p.Ser417=)
|
|
|
NM_012179.4(FBXO7):c.1266T>G (p.Ile422Met)
|
rs2057588908
|
|
NM_012179.4(FBXO7):c.1268_1272dup (p.Tyr425fs)
|
rs749534144
|
|
NM_012179.4(FBXO7):c.1269A>G (p.Pro423=)
|
|
|
NM_012179.4(FBXO7):c.1271_1272delinsAT (p.Phe424Tyr)
|
rs1601520476
|
|
NM_012179.4(FBXO7):c.1278C>T (p.Pro426=)
|
|
|
NM_012179.4(FBXO7):c.127A>G (p.Asn43Asp)
|
|
|
NM_012179.4(FBXO7):c.1299A>G (p.Pro433=)
|
|
|
NM_012179.4(FBXO7):c.1302T>C (p.Phe434=)
|
|
|
NM_012179.4(FBXO7):c.1308C>T (p.Ser436=)
|
|
|
NM_012179.4(FBXO7):c.1309T>A (p.Ser437Thr)
|
|
|
NM_012179.4(FBXO7):c.1314C>T (p.Arg438=)
|
|
|
NM_012179.4(FBXO7):c.1332C>G (p.Ile444Met)
|
rs755248108
|
|
NM_012179.4(FBXO7):c.133C>T (p.Arg45Ter)
|
|
|
NM_012179.4(FBXO7):c.1344T>A (p.Tyr448Ter)
|
|
|
NM_012179.4(FBXO7):c.1345_1347delinsTAA (p.Asp449Ter)
|
rs2146009225
|
|
NM_012179.4(FBXO7):c.135A>G (p.Arg45=)
|
|
|
NM_012179.4(FBXO7):c.1362T>C (p.Leu454=)
|
|
|
NM_012179.4(FBXO7):c.1365C>G (p.Pro455=)
|
|
|
NM_012179.4(FBXO7):c.1368T>C (p.Tyr456=)
|
|
|
NM_012179.4(FBXO7):c.1371T>G (p.Val457=)
|
|
|
NM_012179.4(FBXO7):c.1380A>G (p.Pro460=)
|
|
|
NM_012179.4(FBXO7):c.1386T>G (p.Ser462Arg)
|
rs1837515279
|
|
NM_012179.4(FBXO7):c.1392C>T (p.Leu464=)
|
|
|
NM_012179.4(FBXO7):c.1408G>T (p.Glu470Ter)
|
|
|
NM_012179.4(FBXO7):c.1413G>A (p.Thr471=)
|
|
|
NM_012179.4(FBXO7):c.1416C>T (p.Pro472=)
|
|
|
NM_012179.4(FBXO7):c.1419C>T (p.Ser473=)
|
|
|
NM_012179.4(FBXO7):c.1451del (p.Pro484fs)
|
|
|
NM_012179.4(FBXO7):c.1453G>C (p.Val485Leu)
|
rs141286570
|
|
NM_012179.4(FBXO7):c.1467A>G (p.Pro489=)
|
|
|
NM_012179.4(FBXO7):c.1470A>G (p.Gly490=)
|
|
|
NM_012179.4(FBXO7):c.1476C>T (p.Asn492=)
|
|
|
NM_012179.4(FBXO7):c.1491G>A (p.Gly497=)
|
|
|
NM_012179.4(FBXO7):c.1492C>T (p.Arg498Ter)
|
rs121918304
|
|
NM_012179.4(FBXO7):c.1494A>G (p.Arg498=)
|
|
|
NM_012179.4(FBXO7):c.1497C>A (p.Gly499=)
|
|
|
NM_012179.4(FBXO7):c.152del (p.Asn51fs)
|
rs1228608709
|
|
NM_012179.4(FBXO7):c.1536_1539del (p.Arg513fs)
|
rs772175765
|
|
NM_012179.4(FBXO7):c.1537C>T (p.Arg513Trp)
|
|
|
NM_012179.4(FBXO7):c.1541del (p.Pro514fs)
|
rs2146009781
|
|
NM_012179.4(FBXO7):c.1546G>C (p.Asp516His)
|
rs34316445
|
|
NM_012179.4(FBXO7):c.1546G>T (p.Asp516Tyr)
|
rs34316445
|
|
NM_012179.4(FBXO7):c.1553G>A (p.Arg518Gln)
|
rs771304029
|
|
NM_012179.4(FBXO7):c.1566G>C (p.Met522Ile)
|
|
|
NM_012179.4(FBXO7):c.156C>G (p.Tyr52Ter)
|
|
|
NM_012179.4(FBXO7):c.156C>T (p.Tyr52=)
|
|
|
NM_012179.4(FBXO7):c.174A>C (p.Gly58=)
|
|
|
NM_012179.4(FBXO7):c.185C>A (p.Thr62Asn)
|
|
|
NM_012179.4(FBXO7):c.195A>G (p.Ser65=)
|
|
|
NM_012179.4(FBXO7):c.1A>C (p.Met1Leu)
|
|
|
NM_012179.4(FBXO7):c.1A>G (p.Met1Val)
|
|
|
NM_012179.4(FBXO7):c.249A>G (p.Pro83=)
|
|
|
NM_012179.4(FBXO7):c.251C>T (p.Ala84Val)
|
|
|
NM_012179.4(FBXO7):c.252G>A (p.Ala84=)
|
|
|
NM_012179.4(FBXO7):c.256A>G (p.Asn86Asp)
|
|
|
NM_012179.4(FBXO7):c.260T>C (p.Ile87Thr)
|
rs780055842
|
|
NM_012179.4(FBXO7):c.269_270del (p.Ser90fs)
|
|
|
NM_012179.4(FBXO7):c.284A>T (p.His95Leu)
|
rs771482489
|
|
NM_012179.4(FBXO7):c.2T>A (p.Met1Lys)
|
|
|
NM_012179.4(FBXO7):c.2T>G (p.Met1Arg)
|
|
|
NM_012179.4(FBXO7):c.306G>A (p.Glu102=)
|
rs905363046
|
|
NM_012179.4(FBXO7):c.30G>A (p.Arg10=)
|
|
|
NM_012179.4(FBXO7):c.316_317del (p.Leu106fs)
|
|
|
NM_012179.4(FBXO7):c.330C>T (p.Ser110=)
|
|
|
NM_012179.4(FBXO7):c.33C>G (p.Thr11=)
|
|
|
NM_012179.4(FBXO7):c.33C>T (p.Thr11=)
|
|
|
NM_012179.4(FBXO7):c.345G>C (p.Met115Ile)
|
|
|
NM_012179.4(FBXO7):c.349G>T (p.Asp117Tyr)
|
|
|
NM_012179.4(FBXO7):c.354A>G (p.Glu118=)
|
|
|
NM_012179.4(FBXO7):c.367T>G (p.Ser123Ala)
|
rs2057448381
|
|
NM_012179.4(FBXO7):c.377del (p.Gly126fs)
|
|
|
NM_012179.4(FBXO7):c.378A>G (p.Gly126=)
|
|
|
NM_012179.4(FBXO7):c.384A>G (p.Ala128=)
|
|
|
NM_012179.4(FBXO7):c.393T>C (p.Ser131=)
|
|
|
NM_012179.4(FBXO7):c.400T>G (p.Trp134Gly)
|
|
|
NM_012179.4(FBXO7):c.408C>T (p.Asp136=)
|
|
|
NM_012179.4(FBXO7):c.40C>T (p.Leu14=)
|
|
|
NM_012179.4(FBXO7):c.411C>T (p.Asp137=)
|
|
|
NM_012179.4(FBXO7):c.417+18A>G
|
|
|
NM_012179.4(FBXO7):c.417+20A>G
|
|
|
NM_012179.4(FBXO7):c.417+7A>G
|
|
|
NM_012179.4(FBXO7):c.418-11T>C
|
|
|
NM_012179.4(FBXO7):c.418-16T>C
|
|
|
NM_012179.4(FBXO7):c.418-1G>C
|
|
|
NM_012179.4(FBXO7):c.418-2A>G
|
|
|
NM_012179.4(FBXO7):c.418-2A>T
|
|
|
NM_012179.4(FBXO7):c.426T>C (p.Pro142=)
|
|
|
NM_012179.4(FBXO7):c.430C>G (p.Gln144Glu)
|
rs2057480636
|
|
NM_012179.4(FBXO7):c.432A>G (p.Gln144=)
|
|
|
NM_012179.4(FBXO7):c.437T>C (p.Phe146Ser)
|
|
|
NM_012179.4(FBXO7):c.444T>C (p.Ala148=)
|
|
|
NM_012179.4(FBXO7):c.45G>A (p.Glu15=)
|
|
|
NM_012179.4(FBXO7):c.462T>C (p.Asn154=)
|
|
|
NM_012179.4(FBXO7):c.464C>A (p.Ala155Glu)
|
rs61730784
|
|
NM_012179.4(FBXO7):c.465G>T (p.Ala155=)
|
|
|
NM_012179.4(FBXO7):c.468T>C (p.His156=)
|
|
|
NM_012179.4(FBXO7):c.48G>A (p.Val16=)
|
|
|
NM_012179.4(FBXO7):c.497C>G (p.Ser166Ter)
|
|
|
NM_012179.4(FBXO7):c.49C>G (p.Pro17Ala)
|
rs886057420
|
|
NM_012179.4(FBXO7):c.4A>C (p.Arg2=)
|
|
|
NM_012179.4(FBXO7):c.521C>A (p.Ser174Ter)
|
|
|
NM_012179.4(FBXO7):c.52G>A (p.Glu18Lys)
|
|
|
NM_012179.4(FBXO7):c.531G>A (p.Gly177=)
|
|
|
NM_012179.4(FBXO7):c.537G>A (p.Val179=)
|
|
|
NM_012179.4(FBXO7):c.544dup (p.Ser182fs)
|
|
|
NM_012179.4(FBXO7):c.546A>G (p.Ser182=)
|
|
|
NM_012179.4(FBXO7):c.555C>T (p.Thr185=)
|
|
|
NM_012179.4(FBXO7):c.564A>G (p.Gln188=)
|
|
|
NM_012179.4(FBXO7):c.564_567del (p.Ser189fs)
|
|
|
NM_012179.4(FBXO7):c.573C>T (p.Asp191=)
|
|
|
NM_012179.4(FBXO7):c.575_576del (p.Cys192fs)
|
|
|
NM_012179.4(FBXO7):c.579T>C (p.Ser193=)
|
|
|
NM_012179.4(FBXO7):c.587A>G (p.Asn196Ser)
|
|
|
NM_012179.4(FBXO7):c.593C>G (p.Ala198Gly)
|
rs2057482701
|
|
NM_012179.4(FBXO7):c.595T>C (p.Leu199=)
|
|
|
NM_012179.4(FBXO7):c.603G>A (p.Val201=)
|
|
|
NM_012179.4(FBXO7):c.622T>C (p.Leu208=)
|
|
|
NM_012179.4(FBXO7):c.630A>G (p.Ser210=)
|
|
|
NM_012179.4(FBXO7):c.645+12A>G
|
|
|
NM_012179.4(FBXO7):c.645+13A>G
|
|
|
NM_012179.4(FBXO7):c.645+19A>T
|
|
|
NM_012179.4(FBXO7):c.645+22_645+23del
|
|
|
NM_012179.4(FBXO7):c.646-15C>T
|
|
|
NM_012179.4(FBXO7):c.646-20C>G
|
|
|
NM_012179.4(FBXO7):c.651C>T (p.Thr217=)
|
|
|
NM_012179.4(FBXO7):c.652G>A (p.Glu218Lys)
|
|
|
NM_012179.4(FBXO7):c.65C>T (p.Thr22Met)
|
rs121918305
|
|
NM_012179.4(FBXO7):c.665T>G (p.Leu222Arg)
|
|
|
NM_012179.4(FBXO7):c.666G>C (p.Leu222=)
|
|
|
NM_012179.4(FBXO7):c.674C>G (p.Pro225Arg)
|
rs112660869
|
|
NM_012179.4(FBXO7):c.674C>T (p.Pro225Leu)
|
rs112660869
|
|
NM_012179.4(FBXO7):c.675G>A (p.Pro225=)
|
|
|
NM_012179.4(FBXO7):c.697G>A (p.Val233Met)
|
rs1388222868
|
|
NM_012179.4(FBXO7):c.709C>T (p.Gln237Ter)
|
|
|
NM_012179.4(FBXO7):c.726_727del (p.Cys243fs)
|
rs1290655316
|
|
NM_012179.4(FBXO7):c.729C>T (p.Cys243=)
|
|
|
NM_012179.4(FBXO7):c.72G>A (p.Gly24=)
|
|
|
NM_012179.4(FBXO7):c.741C>T (p.Ser247=)
|
|
|
NM_012179.4(FBXO7):c.744T>C (p.Ala248=)
|
|
|
NM_012179.4(FBXO7):c.787+11A>G
|
|
|
NM_012179.4(FBXO7):c.787+13C>T
|
|
|
NM_012179.4(FBXO7):c.787+14A>G
|
|
|
NM_012179.4(FBXO7):c.787+17G>A
|
|
|
NM_012179.4(FBXO7):c.788-11T>C
|
|
|
NM_012179.4(FBXO7):c.788-12_788-9del
|
|
|
NM_012179.4(FBXO7):c.788-15T>A
|
|
|
NM_012179.4(FBXO7):c.788-15_788-13del
|
|
|
NM_012179.4(FBXO7):c.788-16_788-13del
|
|
|
NM_012179.4(FBXO7):c.788-17_788-13del
|
|
|
NM_012179.4(FBXO7):c.788-8A>G
|
|
|
NM_012179.4(FBXO7):c.788-9dup
|
|
|
NM_012179.4(FBXO7):c.792A>G (p.Thr264=)
|
|
|
NM_012179.4(FBXO7):c.795A>G (p.Leu265=)
|
|
|
NM_012179.4(FBXO7):c.801C>A (p.Ile267=)
|
|
|
NM_012179.4(FBXO7):c.812T>C (p.Ile271Thr)
|
|
|
NM_012179.4(FBXO7):c.821_822del (p.Val274fs)
|
|
|
NM_012179.4(FBXO7):c.846A>G (p.Glu282=)
|
|
|
NM_012179.4(FBXO7):c.84G>A (p.Ser28=)
|
|
|
NM_012179.4(FBXO7):c.871+15_871+17del
|
rs2145996802
|
|
NM_012179.4(FBXO7):c.872-15T>C
|
|
|
NM_012179.4(FBXO7):c.872-19A>G
|
|
|
NM_012179.4(FBXO7):c.872-4C>A
|
|
|
NM_012179.4(FBXO7):c.872-7A>T
|
|
|
NM_012179.4(FBXO7):c.872-9dup
|
|
|
NM_012179.4(FBXO7):c.873G>A (p.Gly291=)
|
|
|
NM_012179.4(FBXO7):c.879T>C (p.Asn293=)
|
|
|
NM_012179.4(FBXO7):c.893_894insT (p.Lys299fs)
|
|
|
NM_012179.4(FBXO7):c.894C>T (p.Tyr298=)
|
|
|
NM_012179.4(FBXO7):c.899A>T (p.Asp300Val)
|
rs2146000180
|
|
NM_012179.4(FBXO7):c.909A>G (p.Lys303=)
|
|
|
NM_012179.4(FBXO7):c.90G>A (p.Leu30=)
|
|
|
NM_012179.4(FBXO7):c.911T>A (p.Leu304His)
|
|
|
NM_012179.4(FBXO7):c.912C>T (p.Leu304=)
|
|
|
NM_012179.4(FBXO7):c.915_916del (p.Arg306fs)
|
|
|
NM_012179.4(FBXO7):c.917_918del (p.Arg306fs)
|
|
|
NM_012179.4(FBXO7):c.921C>T (p.Leu307=)
|
|
|
NM_012179.4(FBXO7):c.925A>T (p.Lys309Ter)
|
|
|
NM_012179.4(FBXO7):c.930C>T (p.Asp310=)
|
|
|
NM_012179.4(FBXO7):c.944C>T (p.Pro315Leu)
|
|
|
NM_012179.4(FBXO7):c.957T>C (p.Phe319=)
|
rs2057532824
|
|
NM_012179.4(FBXO7):c.967+14T>C
|
|
|
NM_012179.4(FBXO7):c.967+17T>C
|
|
|
NM_012179.4(FBXO7):c.967+18G>C
|
|
|
NM_012179.4(FBXO7):c.967+9T>C
|
|
|
NM_012179.4(FBXO7):c.968-10_968-9del
|
|
|
NM_012179.4(FBXO7):c.968-16_968-14del
|
|
|
NM_012179.4(FBXO7):c.968-17T>C
|
|
|
NM_012179.4(FBXO7):c.968-18C>G
|
|
|
NM_012179.4(FBXO7):c.968-9T>G
|
|
|
NM_012179.4(FBXO7):c.969A>G (p.Ala323=)
|
|
|
NM_012179.4(FBXO7):c.970C>T (p.Leu324=)
|
|
|
NM_012179.4(FBXO7):c.978A>G (p.Leu326=)
|
|
|
NM_012179.4(FBXO7):c.987A>G (p.Val329=)
|
|
|
NM_012179.4(FBXO7):c.993G>T (p.Gly331=)
|
rs766700888
|
|
NM_013247.4(HTRA2):c.-136C>G
|
rs886056343
|
|
NM_013247.4(HTRA2):c.-216G>A
|
rs886056342
|
|
NM_013247.4(HTRA2):c.-86G>C
|
rs886056344
|
|
NM_013247.5(HTRA2):c.*265C>T
|
rs1016550488
|
|
NM_013247.5(HTRA2):c.*291G>A
|
rs886056347
|
|
NM_013247.5(HTRA2):c.1079G>A (p.Arg360His)
|
rs1475151932
|
|
NM_013247.5(HTRA2):c.1346C>T (p.Thr449Ile)
|
rs886056346
|
|
NM_013247.5(HTRA2):c.241G>A (p.Ala81Thr)
|
rs886056345
|
|
NM_013247.5(HTRA2):c.507-10T>A
|
rs747756166
|
|
NM_013247.5(HTRA2):c.507-9C>A
|
rs151291127
|
|
NM_013247.5(HTRA2):c.825T>C (p.Val275=)
|
rs777650346
|
|
NM_015836.4(WARS2):c.148G>T (p.Gly50Cys)
|
rs11552864
|
|
NM_015836.4(WARS2):c.149G>A (p.Gly50Asp)
|
rs1571323203
|
|
NM_015836.4(WARS2):c.295CTT[1] (p.Leu100del)
|
rs772867219
|
|
NM_015836.4(WARS2):c.368T>G (p.Leu123Ter)
|
|
|
NM_015836.4(WARS2):c.622G>T (p.Glu208Ter)
|
rs137890886
|
|
NM_015836.4(WARS2):c.683C>G (p.Ser228Trp)
|
rs1647600390
|
|
NM_015836.4(WARS2):c.797del (p.Pro266fs)
|
rs746478253
|
|
NM_015836.4(WARS2):c.882C>A (p.Ser294Arg)
|
|
|
NM_016139.4(CHCHD2):c.182C>T (p.Thr61Ile)
|
rs864309650
|
|
NM_016139.4(CHCHD2):c.434G>A (p.Arg145Gln)
|
rs752169833
|
|
NM_018206.6(VPS35):c.*161C>T
|
rs1965892398
|
|
NM_018206.6(VPS35):c.-19C>T
|
rs573920049
|
|
NM_018206.6(VPS35):c.-34G>A
|
rs3743928
|
|
NM_018206.6(VPS35):c.-35C>G
|
rs189775907
|
|
NM_018206.6(VPS35):c.1002A>G (p.Thr334=)
|
rs1966115698
|
|
NM_018206.6(VPS35):c.100C>T (p.Leu34=)
|
|
|
NM_018206.6(VPS35):c.102+4A>G
|
|
|
NM_018206.6(VPS35):c.103-17T>C
|
|
|
NM_018206.6(VPS35):c.1035G>A (p.Glu345=)
|
rs563975281
|
|
NM_018206.6(VPS35):c.106A>G (p.Lys36Glu)
|
|
|
NM_018206.6(VPS35):c.1119A>G (p.Leu373=)
|
|
|
NM_018206.6(VPS35):c.1120G>A (p.Glu374Lys)
|
|
|
NM_018206.6(VPS35):c.1191A>G (p.Glu397=)
|
|
|
NM_018206.6(VPS35):c.1194C>T (p.Leu398=)
|
|
|
NM_018206.6(VPS35):c.1226dup (p.Tyr409Ter)
|
|
|
NM_018206.6(VPS35):c.1277A>C (p.Glu426Ala)
|
|
|
NM_018206.6(VPS35):c.1291_1292delinsTT (p.Glu431Leu)
|
|
|
NM_018206.6(VPS35):c.1304G>A (p.Ser435Asn)
|
|
|
NM_018206.6(VPS35):c.1331T>C (p.Val444Ala)
|
|
|
NM_018206.6(VPS35):c.1368+15A>G
|
|
|
NM_018206.6(VPS35):c.1369-12C>T
|
|
|
NM_018206.6(VPS35):c.1369-5T>C
|
|
|
NM_018206.6(VPS35):c.1391T>C (p.Val464Ala)
|
rs1555465774
|
|
NM_018206.6(VPS35):c.13C>T (p.Gln5Ter)
|
rs2143009092
|
|
NM_018206.6(VPS35):c.1427T>C (p.Val476Ala)
|
|
|
NM_018206.6(VPS35):c.144T>C (p.Asn48=)
|
|
|
NM_018206.6(VPS35):c.1477C>T (p.Arg493Cys)
|
|
|
NM_018206.6(VPS35):c.1480T>A (p.Phe494Ile)
|
rs141253289
|
|
NM_018206.6(VPS35):c.1482C>T (p.Phe494=)
|
|
|
NM_018206.6(VPS35):c.1525-5G>T
|
rs1966030456
|
|
NM_018206.6(VPS35):c.1537G>C (p.Ala513Pro)
|
|
|
NM_018206.6(VPS35):c.1538C>A (p.Ala513Glu)
|
|
|
NM_018206.6(VPS35):c.1541G>A (p.Arg514Gln)
|
|
|
NM_018206.6(VPS35):c.1550T>G (p.Phe517Cys)
|
rs1567264486
|
|
NM_018206.6(VPS35):c.1586T>A (p.Leu529Gln)
|
|
|
NM_018206.6(VPS35):c.1642A>G (p.Lys548Glu)
|
|
|
NM_018206.6(VPS35):c.1795C>G (p.His599Asp)
|
|
|
NM_018206.6(VPS35):c.1796A>G (p.His599Arg)
|
rs1434487321
|
|
NM_018206.6(VPS35):c.1803A>G (p.Thr601=)
|
|
|
NM_018206.6(VPS35):c.1804G>A (p.Val602Ile)
|
rs896243488
|
|
NM_018206.6(VPS35):c.1819A>G (p.Met607Val)
|
rs1555523076
|
|
NM_018206.6(VPS35):c.1858G>A (p.Asp620Asn)
|
rs188286943
|
|
NM_018206.6(VPS35):c.1900A>G (p.Thr634Ala)
|
rs1965927007
|
|
NM_018206.6(VPS35):c.199+14G>T
|
|
|
NM_018206.6(VPS35):c.199+8T>C
|
|
|
NM_018206.6(VPS35):c.2060G>A (p.Gly687Glu)
|
rs2143005842
|
|
NM_018206.6(VPS35):c.2061G>C (p.Gly687=)
|
|
|
NM_018206.6(VPS35):c.2067+14T>C
|
|
|
NM_018206.6(VPS35):c.2068-19C>T
|
|
|
NM_018206.6(VPS35):c.2181T>C (p.Tyr727=)
|
|
|
NM_018206.6(VPS35):c.2212-10dup
|
|
|
NM_018206.6(VPS35):c.222G>A (p.Leu74=)
|
rs2143008798
|
|
NM_018206.6(VPS35):c.2295G>C (p.Gln765His)
|
|
|
NM_018206.6(VPS35):c.2316C>T (p.Asn772=)
|
rs752414695
|
|
NM_018206.6(VPS35):c.2350C>A (p.Pro784Thr)
|
rs1965895979
|
|
NM_018206.6(VPS35):c.2353G>C (p.Glu785Gln)
|
rs1965895878
|
|
NM_018206.6(VPS35):c.2359G>A (p.Glu787Lys)
|
rs777050595
|
|
NM_018206.6(VPS35):c.2364G>T (p.Gly788=)
|
|
|
NM_018206.6(VPS35):c.267G>A (p.Arg89=)
|
|
|
NM_018206.6(VPS35):c.285C>T (p.Tyr95=)
|
|
|
NM_018206.6(VPS35):c.3+17C>T
|
|
|
NM_018206.6(VPS35):c.340G>A (p.Val114Ile)
|
|
|
NM_018206.6(VPS35):c.4-18G>A
|
|
|
NM_018206.6(VPS35):c.505G>C (p.Asp169His)
|
rs1434089382
|
|
NM_018206.6(VPS35):c.507-14C>G
|
|
|
NM_018206.6(VPS35):c.721-16G>A
|
|
|
NM_018206.6(VPS35):c.723T>G (p.Ile241Met)
|
rs192783364
|
|
NM_018206.6(VPS35):c.755A>G (p.Asn252Ser)
|
|
|
NM_018206.6(VPS35):c.762G>A (p.Arg254=)
|
|
|
NM_018206.6(VPS35):c.883G>A (p.Val295Met)
|
|
|
NM_018206.6(VPS35):c.894A>C (p.Ile298=)
|
|
|
NM_018206.6(VPS35):c.914+11C>A
|
rs1966155977
|
|
NM_018206.6(VPS35):c.914+16A>G
|
|
|
NM_018206.6(VPS35):c.915-16T>G
|
rs757051230
|
|
NM_018206.6(VPS35):c.915-17G>T
|
|
|
NM_018206.6(VPS35):c.915-3del
|
rs569369937
|
|
NM_018206.6(VPS35):c.935G>T (p.Arg312Leu)
|
|
|
NM_018206.6(VPS35):c.942T>C (p.Asp314=)
|
|
|
NM_018206.6(VPS35):c.977A>T (p.Asp326Val)
|
rs2143007770
|
|
NM_018206.6(VPS35):c.978T>C (p.Asp326=)
|
|
|
NM_018206.6(VPS35):c.993G>T (p.Gln331His)
|
rs1483697832
|
|
NM_018206.6(VPS35):c.9A>C (p.Thr3=)
|
rs1364157460
|
|
NM_018713.3(SLC30A10):c.*1088G>A
|
rs2275706
|
|
NM_018713.3(SLC30A10):c.*1088G>C
|
rs2275706
|
|
NM_018713.3(SLC30A10):c.*1128del
|
rs59755757
|
|
NM_018713.3(SLC30A10):c.*115C>G
|
rs2231736
|
|
NM_018713.3(SLC30A10):c.*239A>G
|
rs886046000
|
|
NM_018713.3(SLC30A10):c.*356G>A
|
rs1659501427
|
|
NM_018713.3(SLC30A10):c.*397C>T
|
rs747429986
|
|
NM_018713.3(SLC30A10):c.1006C>T (p.His336Tyr)
|
rs770740586
|
|
NM_018713.3(SLC30A10):c.1046T>C (p.Leu349Pro)
|
rs281860291
|
|
NM_018713.3(SLC30A10):c.1068C>T (p.Asp356=)
|
rs886046001
|
|
NM_018713.3(SLC30A10):c.1235del (p.Gln412fs)
|
rs281860292
|
|
NM_018713.3(SLC30A10):c.1249C>G (p.Pro417Ala)
|
rs757737775
|
|
NM_018713.3(SLC30A10):c.1449G>A (p.Thr483=)
|
rs148203711
|
|
NM_018713.3(SLC30A10):c.266T>C (p.Leu89Pro)
|
rs281860284
|
|
NM_018713.3(SLC30A10):c.292_402del (p.Val98_Phe134del)
|
rs1553313839
|
|
NM_018713.3(SLC30A10):c.314_322del (p.Ala105_Pro107del)
|
rs281860285
|
|
NM_018713.3(SLC30A10):c.392T>G (p.Leu131Arg)
|
|
|
NM_018713.3(SLC30A10):c.460C>T (p.Gln154Ter)
|
rs1057519589
|
|
NM_018713.3(SLC30A10):c.492del (p.Gly165fs)
|
rs1057519590
|
|
NM_018713.3(SLC30A10):c.496_553del (p.Ala166fs)
|
rs1553313783
|
|
NM_018713.3(SLC30A10):c.500T>C (p.Phe167Ser)
|
rs281860286
|
|
NM_018713.3(SLC30A10):c.507del (p.Pro170fs)
|
rs281860287
|
|
NM_018713.3(SLC30A10):c.585del (p.Thr196fs)
|
rs281860288
|
|
NM_018713.3(SLC30A10):c.765_767del (p.Val256del)
|
rs281860289
|
|
NM_018713.3(SLC30A10):c.922C>T (p.Gln308Ter)
|
rs281860290
|
|
NM_018897.3(DNAH7):c.10753T>C (p.Phe3585Leu)
|
rs1057519439
|
|
NM_020702.5(MYORG):c.1057GAC[1] (p.Asp354del)
|
rs1180204613
|
|
NM_020702.5(MYORG):c.1086CTTCGA[1] (p.363FD[1])
|
rs1398218251
|
|
NM_020702.5(MYORG):c.1118C>A (p.Ala373Asp)
|
rs1588004082
|
|
NM_020702.5(MYORG):c.1233del (p.Phe411fs)
|
rs1563981857
|
|
NM_020702.5(MYORG):c.1321C>G (p.Arg441Gly)
|
rs749427106
|
|
NM_020702.5(MYORG):c.1328G>A (p.Trp443Ter)
|
rs868530644
|
|
NM_020702.5(MYORG):c.1333C>T (p.Gln445Ter)
|
rs1563981743
|
|
NM_020702.5(MYORG):c.1427C>A (p.Thr476Asn)
|
rs769099047
|
|
NM_020702.5(MYORG):c.1431C>A (p.Tyr477Ter)
|
rs1588003652
|
|
NM_020702.5(MYORG):c.1469A>G (p.Tyr490Cys)
|
rs2131878793
|
|
NM_020702.5(MYORG):c.1607C>T (p.Pro536Leu)
|
rs1820592071
|
|
NM_020702.5(MYORG):c.1788C>G (p.Tyr596Ter)
|
|
|
NM_020702.5(MYORG):c.1831C>T (p.Arg611Trp)
|
rs536187898
|
|
NM_020702.5(MYORG):c.1873G>T (p.Glu625Ter)
|
|
|
NM_020702.5(MYORG):c.191G>A (p.Gly64Glu)
|
rs756514041
|
|
NM_020702.5(MYORG):c.1979T>A (p.Leu660Gln)
|
rs1588002920
|
|
NM_020702.5(MYORG):c.1991C>T (p.Pro664Leu)
|
rs771434563
|
|
NM_020702.5(MYORG):c.337_348dup (p.Leu113_Arg116dup)
|
rs775762093
|
|
NM_020702.5(MYORG):c.338T>G (p.Leu113Arg)
|
rs753277260
|
|
NM_020702.5(MYORG):c.428_442del (p.Leu143_Ile147del)
|
rs1588005063
|
|
NM_020702.5(MYORG):c.607C>T (p.Gln203Ter)
|
rs1563982489
|
|
NM_020702.5(MYORG):c.687G>C (p.Trp229Cys)
|
rs1588004637
|
|
NM_020702.5(MYORG):c.695C>T (p.Ser232Leu)
|
rs757434146
|
|
NM_020702.5(MYORG):c.701_702del (p.Ala234fs)
|
|
|
NM_020702.5(MYORG):c.782_783delinsTT (p.Arg261Leu)
|
rs1563982307
|
|
NM_020702.5(MYORG):c.841T>C (p.Tyr281His)
|
|
|
NM_020702.5(MYORG):c.954G>T (p.Trp318Cys)
|
|
|
NM_020821.3(VPS13C):c.10060G>T (p.Glu3354Ter)
|
rs199723460
|
|
NM_020821.3(VPS13C):c.10576C>T (p.Arg3526Ter)
|
|
|
NM_020821.3(VPS13C):c.10786_10792del (p.Pro3596fs)
|
rs2140867780
|
|
NM_020821.3(VPS13C):c.10863+1553C>T
|
|
|
NM_020821.3(VPS13C):c.1193_1194del (p.Ile398fs)
|
|
|
NM_020821.3(VPS13C):c.1304C>T (p.Thr435Ile)
|
|
|
NM_020821.3(VPS13C):c.1483+1G>A
|
rs2046226928
|
|
NM_020821.3(VPS13C):c.3329A>G (p.Gln1110Arg)
|
|
|
NM_020821.3(VPS13C):c.4165G>C (p.Gly1389Arg)
|
rs369100678
|
|
NM_020821.3(VPS13C):c.4760-44T>A
|
rs113403713
|
|
NM_020821.3(VPS13C):c.4777del (p.Gln1593fs)
|
rs869312811
|
|
NM_020821.3(VPS13C):c.5386G>C (p.Glu1796Gln)
|
|
|
NM_020821.3(VPS13C):c.5842_5843insATGA (p.Ile1948fs)
|
rs2140234163
|
|
NM_020821.3(VPS13C):c.5971G>A (p.Val1991Ile)
|
|
|
NM_020821.3(VPS13C):c.7199A>G (p.Asn2400Ser)
|
|
|
NM_020821.3(VPS13C):c.802_805dup (p.Arg269fs)
|
rs869320761
|
|
NM_020821.3(VPS13C):c.806_807insCAGA (p.Arg269fs)
|
rs879253853
|
|
NM_020821.3(VPS13C):c.8445+2T>G
|
rs869312809
|
|
NM_020821.3(VPS13C):c.8845-10del
|
rs35201581
|
|
NM_020821.3(VPS13C):c.9481G>T (p.Glu3161Ter)
|
|
|
NM_020821.3(VPS13C):c.9568G>T (p.Glu3190Ter)
|
rs869312810
|
|
NM_021219.4(JAM2):c.143del (p.Ile47_Leu48insTer)
|
rs1601038626
|
|
NM_021219.4(JAM2):c.177_180del (p.Ser59_Arg60insTer)
|
rs1601038704
|
|
NM_021219.4(JAM2):c.1A>G (p.Met1Val)
|
rs1600978441
|
|
NM_021219.4(JAM2):c.504G>C (p.Trp168Cys)
|
rs1230941179
|
|
NM_021219.4:(67+1_68-1)_(394+1_395-1)del
|
|
|
NM_022089.4(ATP13A2):c.*158T>C
|
rs185521359
|
|
NM_022089.4(ATP13A2):c.*251A>G
|
rs535432261
|
|
NM_022089.4(ATP13A2):c.*9C>A
|
rs773484997
|
|
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.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.1040-6C>T
|
rs886045582
|
|
NM_022089.4(ATP13A2):c.1041A>T (p.Gly347=)
|
|
|
NM_022089.4(ATP13A2):c.106-13G>A
|
|
|
NM_022089.4(ATP13A2):c.106-20C>T
|
|
|
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.1101_1102dup (p.Thr368fs)
|
rs762033589
|
|
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>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.1298_1299del (p.Ser433fs)
|
|
|
NM_022089.4(ATP13A2):c.1306+1G>C
|
|
|
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.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.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.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.1387G>C (p.Asp463His)
|
rs776550207
|
|
NM_022089.4(ATP13A2):c.13A>G (p.Ser5Gly)
|
rs2101131465
|
|
NM_022089.4(ATP13A2):c.1400T>A (p.Val467Glu)
|
|
|
NM_022089.4(ATP13A2):c.1407_1428dup (p.Met477fs)
|
|
|
NM_022089.4(ATP13A2):c.1422TGC[3] (p.Ala476_Met477insAla)
|
|
|
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+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.1543-18C>T
|
|
|
NM_022089.4(ATP13A2):c.1543-7C>T
|
|
|
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.1633_1654dup (p.Leu552fs)
|
rs2100817106
|
|
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.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.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+2T>G
|
rs74058364
|
|
NM_022089.4(ATP13A2):c.1749+442_2251+512del
|
|
|
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.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.1777_1778del (p.Ala594fs)
|
rs1557683241
|
|
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.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.1971G>A (p.Pro657=)
|
|
|
NM_022089.4(ATP13A2):c.1989C>G (p.Leu663=)
|
|
|
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.2006-7dup
|
|
|
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.2082A>G (p.Pro694=)
|
rs1303061130
|
|
NM_022089.4(ATP13A2):c.2094G>A (p.Val698=)
|
|
|
NM_022089.4(ATP13A2):c.20C>T (p.Pro7Leu)
|
rs2077535736
|
|
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+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+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.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.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.2412+12C>G
|
|
|
NM_022089.4(ATP13A2):c.2413-1G>C
|
|
|
NM_022089.4(ATP13A2):c.2417C>T (p.Pro806Leu)
|
rs2100727013
|
|
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.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.2517G>C (p.Lys839Asn)
|
rs2076866081
|
|
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+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.2540_2550del (p.Gln847fs)
|
|
|
NM_022089.4(ATP13A2):c.2544C>T (p.Gly848=)
|
rs769033175
|
|
NM_022089.4(ATP13A2):c.2548G>C (p.Val850Leu)
|
|
|
NM_022089.4(ATP13A2):c.2552_2553del (p.Phe851fs)
|
rs587776890
|
|
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.2561T>G (p.Met854Arg)
|
rs587777053
|
|
NM_022089.4(ATP13A2):c.2563G>A (p.Ala855Thr)
|
rs886045579
|
|
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+19G>T
|
|
|
NM_022089.4(ATP13A2):c.2610-8C>T
|
|
|
NM_022089.4(ATP13A2):c.2652G>A (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>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.2808C>T (p.Tyr936=)
|
rs886045578
|
|
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.2896A>G (p.Ile966Val)
|
|
|
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.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.2983del (p.Ala995fs)
|
rs1414662479
|
|
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+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.3111C>T (p.Ala1037=)
|
rs538236343
|
|
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.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+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.3258G>C (p.Ala1086=)
|
rs377253172
|
|
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.3399G>A (p.Met1133Ile)
|
|
|
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.373G>C (p.Ala125Pro)
|
|
|
NM_022089.4(ATP13A2):c.374C>A (p.Ala125Glu)
|
|
|
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+18C>A
|
|
|
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.514C>T (p.Arg172Cys)
|
|
|
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.636-19G>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.66G>A (p.Gly22=)
|
|
|
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>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.747G>A (p.Ala249=)
|
|
|
NM_022089.4(ATP13A2):c.774G>A (p.Trp258Ter)
|
|
|
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.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.859G>A (p.Asp287Asn)
|
rs764560082
|
|
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_022168.4(IFIH1):c.229C>T (p.Arg77Trp)
|
rs147278787
|
|
NM_022168.4(IFIH1):c.2336G>A (p.Arg779His)
|
rs587777446
|
|
NM_022168.4(IFIH1):c.2947A>G (p.Lys983Glu)
|
|
|
NM_025243.3(SLC19A3):c.-4404_-3+408del
|
|
|
NM_025243.4(SLC19A3):c.*1003G>T
|
rs886055757
|
|
NM_025243.4(SLC19A3):c.*1044G>A
|
rs1695015092
|
|
NM_025243.4(SLC19A3):c.*1094C>T
|
rs111724178
|
|
NM_025243.4(SLC19A3):c.*1104T>C
|
rs886055754
|
|
NM_025243.4(SLC19A3):c.*115C>G
|
rs549546166
|
|
NM_025243.4(SLC19A3):c.*1207C>T
|
rs1427276202
|
|
NM_025243.4(SLC19A3):c.*1463G>A
|
rs555334820
|
|
NM_025243.4(SLC19A3):c.*1859C>T
|
rs78796362
|
|
NM_025243.4(SLC19A3):c.*2033A>G
|
rs886055753
|
|
NM_025243.4(SLC19A3):c.*33A>G
|
rs886055763
|
|
NM_025243.4(SLC19A3):c.*570T>A
|
rs1461906570
|
|
NM_025243.4(SLC19A3):c.*713C>T
|
rs1574539152
|
|
NM_025243.4(SLC19A3):c.*778G>C
|
rs886055758
|
|
NM_025243.4(SLC19A3):c.*8G>A
|
rs188532608
|
|
NM_025243.4(SLC19A3):c.*924C>T
|
rs957030750
|
|
NM_025243.4(SLC19A3):c.1002G>T (p.Val334=)
|
rs2106326071
|
|
NM_025243.4(SLC19A3):c.1005T>C (p.Gly335=)
|
|
|
NM_025243.4(SLC19A3):c.1015G>A (p.Val339Ile)
|
rs1316990129
|
|
NM_025243.4(SLC19A3):c.1019A>G (p.Asn340Ser)
|
rs1695423219
|
|
NM_025243.4(SLC19A3):c.1020C>T (p.Asn340=)
|
|
|
NM_025243.4(SLC19A3):c.102C>T (p.Phe34=)
|
|
|
NM_025243.4(SLC19A3):c.1038G>T (p.Glu346Asp)
|
|
|
NM_025243.4(SLC19A3):c.103C>T (p.Leu35Phe)
|
|
|
NM_025243.4(SLC19A3):c.1049_1050inv (p.Val350Ala)
|
|
|
NM_025243.4(SLC19A3):c.1051G>T (p.Val351Phe)
|
rs1574553914
|
|
NM_025243.4(SLC19A3):c.1053C>T (p.Val351=)
|
|
|
NM_025243.4(SLC19A3):c.105T>C (p.Leu35=)
|
rs1193993220
|
|
NM_025243.4(SLC19A3):c.1070C>A (p.Ala357Asp)
|
rs778139709
|
|
NM_025243.4(SLC19A3):c.1070C>G (p.Ala357Gly)
|
rs778139709
|
|
NM_025243.4(SLC19A3):c.1073G>A (p.Gly358Asp)
|
rs1344961969
|
|
NM_025243.4(SLC19A3):c.1079dup (p.Leu360fs)
|
rs1559247315
|
|
NM_025243.4(SLC19A3):c.1080A>G (p.Leu360=)
|
|
|
NM_025243.4(SLC19A3):c.1089G>A (p.Met363Ile)
|
rs1559247288
|
|
NM_025243.4(SLC19A3):c.1090C>T (p.His364Tyr)
|
|
|
NM_025243.4(SLC19A3):c.1101C>A (p.Ala367=)
|
|
|
NM_025243.4(SLC19A3):c.1103A>G (p.Asn368Ser)
|
|
|
NM_025243.4(SLC19A3):c.110C>T (p.Pro37Leu)
|
|
|
NM_025243.4(SLC19A3):c.1116C>G (p.Cys372Trp)
|
rs201899804
|
|
NM_025243.4(SLC19A3):c.111A>G (p.Pro37=)
|
|
|
NM_025243.4(SLC19A3):c.1129T>C (p.Leu377=)
|
|
|
NM_025243.4(SLC19A3):c.1131G>A (p.Leu377=)
|
|
|
NM_025243.4(SLC19A3):c.1150A>T (p.Met384Leu)
|
rs1473191700
|
|
NM_025243.4(SLC19A3):c.1154T>G (p.Leu385Arg)
|
rs563607795
|
|
NM_025243.4(SLC19A3):c.1164del (p.Thr388_Ile389insTer)
|
rs2106325859
|
|
NM_025243.4(SLC19A3):c.1170A>C (p.Ala390=)
|
|
|
NM_025243.4(SLC19A3):c.1172+14A>G
|
|
|
NM_025243.4(SLC19A3):c.1172+2T>G
|
rs2106325851
|
|
NM_025243.4(SLC19A3):c.1172+9T>A
|
rs1553570424
|
|
NM_025243.4(SLC19A3):c.1173-12G>A
|
|
|
NM_025243.4(SLC19A3):c.1173-14A>G
|
|
|
NM_025243.4(SLC19A3):c.1173-17T>C
|
|
|
NM_025243.4(SLC19A3):c.1173-19T>A
|
|
|
NM_025243.4(SLC19A3):c.1173-1G>A
|
|
|
NM_025243.4(SLC19A3):c.1173-4A>G
|
rs367737262
|
|
NM_025243.4(SLC19A3):c.1173-4A>T
|
rs367737262
|
|
NM_025243.4(SLC19A3):c.1173-6T>C
|
|
|
NM_025243.4(SLC19A3):c.1173-8A>G
|
|
|
NM_025243.4(SLC19A3):c.117A>G (p.Leu39=)
|
|
|
NM_025243.4(SLC19A3):c.1183G>A (p.Ala395Thr)
|
rs747446540
|
|
NM_025243.4(SLC19A3):c.1193T>G (p.Leu398Arg)
|
rs1559242521
|
|
NM_025243.4(SLC19A3):c.1197T>C (p.Asn399=)
|
|
|
NM_025243.4(SLC19A3):c.1204C>G (p.Arg402Gly)
|
rs150523975
|
|
NM_025243.4(SLC19A3):c.1204C>T (p.Arg402Cys)
|
rs150523975
|
|
NM_025243.4(SLC19A3):c.1212dup (p.Val406fs)
|
|
|
NM_025243.4(SLC19A3):c.1216G>A (p.Val406Ile)
|
rs1165860726
|
|
NM_025243.4(SLC19A3):c.1217T>C (p.Val406Ala)
|
rs1695095166
|
|
NM_025243.4(SLC19A3):c.1230C>T (p.Asn410=)
|
rs1574542050
|
|
NM_025243.4(SLC19A3):c.1232C>T (p.Thr411Ile)
|
|
|
NM_025243.4(SLC19A3):c.1233C>T (p.Thr411=)
|
|
|
NM_025243.4(SLC19A3):c.1236T>C (p.Phe412=)
|
|
|
NM_025243.4(SLC19A3):c.1245G>T (p.Leu415Phe)
|
rs1213616391
|
|
NM_025243.4(SLC19A3):c.1253A>C (p.Gln418Pro)
|
|
|
NM_025243.4(SLC19A3):c.1253A>G (p.Gln418Arg)
|
rs1064795112
|
|
NM_025243.4(SLC19A3):c.1254G>A (p.Gln418=)
|
rs1559242391
|
|
NM_025243.4(SLC19A3):c.1256C>A (p.Thr419Asn)
|
rs1559242384
|
|
NM_025243.4(SLC19A3):c.1257del (p.Ile420fs)
|
rs2106318158
|
|
NM_025243.4(SLC19A3):c.1258A>G (p.Ile420Val)
|
|
|
NM_025243.4(SLC19A3):c.125dup (p.Asp43fs)
|
|
|
NM_025243.4(SLC19A3):c.1261A>T (p.Met421Leu)
|
|
|
NM_025243.4(SLC19A3):c.1263G>A (p.Met421Ile)
|
rs2106318142
|
|
NM_025243.4(SLC19A3):c.1264A>C (p.Thr422Pro)
|
|
|
NM_025243.4(SLC19A3):c.1264A>G (p.Thr422Ala)
|
rs121917884
|
|
NM_025243.4(SLC19A3):c.1272T>C (p.Ile424=)
|
|
|
NM_025243.4(SLC19A3):c.1274TAG[1] (p.Val426del)
|
rs1553568249
|
|
NM_025243.4(SLC19A3):c.1297T>C (p.Leu433=)
|
|
|
NM_025243.4(SLC19A3):c.129dup (p.Lys44Ter)
|
|
|
NM_025243.4(SLC19A3):c.12C>G (p.Tyr4Ter)
|
|
|
NM_025243.4(SLC19A3):c.1300C>T (p.Pro434Ser)
|
rs760162924
|
|
NM_025243.4(SLC19A3):c.1302A>G (p.Pro434=)
|
|
|
NM_025243.4(SLC19A3):c.1309A>T (p.Ile437Phe)
|
rs1245174999
|
|
NM_025243.4(SLC19A3):c.130A>G (p.Lys44Glu)
|
rs137852957
|
|
NM_025243.4(SLC19A3):c.1314+20T>C
|
rs2106318065
|
|
NM_025243.4(SLC19A3):c.1314+3A>G
|
rs2106318085
|
|
NM_025243.4(SLC19A3):c.1314+7T>C
|
|
|
NM_025243.4(SLC19A3):c.1314+9C>T
|
rs2106318081
|
|
NM_025243.4(SLC19A3):c.1315-14T>C
|
|
|
NM_025243.4(SLC19A3):c.1315-16A>G
|
|
|
NM_025243.4(SLC19A3):c.1315-7T>C
|
rs781452199
|
|
NM_025243.4(SLC19A3):c.1328G>T (p.Gly443Val)
|
rs1695064805
|
|
NM_025243.4(SLC19A3):c.1329G>A (p.Gly443=)
|
|
|
NM_025243.4(SLC19A3):c.1335T>C (p.Tyr445=)
|
|
|
NM_025243.4(SLC19A3):c.1347T>C (p.Ile449=)
|
|
|
NM_025243.4(SLC19A3):c.1349C>G (p.Ala450Gly)
|
rs767080667
|
|
NM_025243.4(SLC19A3):c.1352G>A (p.Gly451Glu)
|
rs1559241677
|
|
NM_025243.4(SLC19A3):c.1365G>A (p.Met455Ile)
|
rs762173287
|
|
NM_025243.4(SLC19A3):c.1370_1371delinsAA (p.Ser457Lys)
|
|
|
NM_025243.4(SLC19A3):c.1374del (p.Met458fs)
|
rs1406230125
|
|
NM_025243.4(SLC19A3):c.1378A>C (p.Ile460Leu)
|
rs1574540571
|
|
NM_025243.4(SLC19A3):c.1379_1381dup (p.Ile460dup)
|
rs756676536
|
|
NM_025243.4(SLC19A3):c.137T>C (p.Leu46Pro)
|
|
|
NM_025243.4(SLC19A3):c.1380T>A (p.Ile460=)
|
|
|
NM_025243.4(SLC19A3):c.1383C>G (p.Thr461=)
|
rs770099619
|
|
NM_025243.4(SLC19A3):c.1385dup (p.Tyr462Ter)
|
|
|
NM_025243.4(SLC19A3):c.1392C>A (p.Thr464=)
|
|
|
NM_025243.4(SLC19A3):c.1398C>T (p.Ser466=)
|
|
|
NM_025243.4(SLC19A3):c.1403del (p.Lys468fs)
|
|
|
NM_025243.4(SLC19A3):c.1407T>C (p.Asp469=)
|
|
|
NM_025243.4(SLC19A3):c.1410A>T (p.Val470=)
|
|
|
NM_025243.4(SLC19A3):c.141C>A (p.Thr47=)
|
rs145710386
|
|
NM_025243.4(SLC19A3):c.141C>T (p.Thr47=)
|
rs145710386
|
|
NM_025243.4(SLC19A3):c.1425A>C (p.Pro475=)
|
|
|
NM_025243.4(SLC19A3):c.1425A>G (p.Pro475=)
|
|
|
NM_025243.4(SLC19A3):c.1440T>C (p.Asp480=)
|
rs1695058030
|
|
NM_025243.4(SLC19A3):c.1443_1444del (p.His483fs)
|
rs2106317211
|
|
NM_025243.4(SLC19A3):c.1444_1445delinsCT (p.Ser482Leu)
|
|
|
NM_025243.4(SLC19A3):c.1448A>G (p.His483Arg)
|
rs1574540386
|
|
NM_025243.4(SLC19A3):c.1449C>T (p.His483=)
|
rs1574540382
|
|
NM_025243.4(SLC19A3):c.1451C>T (p.Pro484Leu)
|
rs1574540362
|
|
NM_025243.4(SLC19A3):c.1464T>C (p.Ser488=)
|
|
|
NM_025243.4(SLC19A3):c.1475_1482dup (p.Lys495fs)
|
rs1387251145
|
|
NM_025243.4(SLC19A3):c.1476G>C (p.Met492Ile)
|
rs764642918
|
|
NM_025243.4(SLC19A3):c.1482A>C (p.Thr494=)
|
|
|
NM_025243.4(SLC19A3):c.1488C>T (p.Leu496=)
|
|
|
NM_025243.4(SLC19A3):c.150+11A>G
|
|
|
NM_025243.4(SLC19A3):c.150+15A>G
|
|
|
NM_025243.4(SLC19A3):c.150+19A>G
|
rs1369870143
|
|
NM_025243.4(SLC19A3):c.150+2T>C
|
rs780157041
|
|
NM_025243.4(SLC19A3):c.151-17A>G
|
|
|
NM_025243.4(SLC19A3):c.151-1G>C
|
|
|
NM_025243.4(SLC19A3):c.151-20G>C
|
|
|
NM_025243.4(SLC19A3):c.151-7T>C
|
|
|
NM_025243.4(SLC19A3):c.158A>C (p.Asn53Thr)
|
rs2106329724
|
|
NM_025243.4(SLC19A3):c.160G>T (p.Glu54Ter)
|
|
|
NM_025243.4(SLC19A3):c.169C>A (p.Pro57Thr)
|
rs1695593996
|
|
NM_025243.4(SLC19A3):c.171C>G (p.Pro57=)
|
rs765236061
|
|
NM_025243.4(SLC19A3):c.171C>T (p.Pro57=)
|
rs765236061
|
|
NM_025243.4(SLC19A3):c.171del (p.Val58fs)
|
rs2106329702
|
|
NM_025243.4(SLC19A3):c.172G>T (p.Val58Phe)
|
rs200412423
|
|
NM_025243.4(SLC19A3):c.175T>C (p.Trp59Arg)
|
|
|
NM_025243.4(SLC19A3):c.177G>A (p.Trp59Ter)
|
|
|
NM_025243.4(SLC19A3):c.17C>A (p.Thr6Asn)
|
rs773766196
|
|
NM_025243.4(SLC19A3):c.17C>G (p.Thr6Ser)
|
|
|
NM_025243.4(SLC19A3):c.180A>G (p.Thr60=)
|
|
|
NM_025243.4(SLC19A3):c.183C>T (p.Tyr61=)
|
|
|
NM_025243.4(SLC19A3):c.185C>T (p.Ser62Phe)
|
rs1266097365
|
|
NM_025243.4(SLC19A3):c.186C>G (p.Ser62=)
|
|
|
NM_025243.4(SLC19A3):c.189C>A (p.Tyr63Ter)
|
rs1559250774
|
|
NM_025243.4(SLC19A3):c.18T>C (p.Thr6=)
|
rs141093593
|
|
NM_025243.4(SLC19A3):c.190C>T (p.Leu64=)
|
|
|
NM_025243.4(SLC19A3):c.197T>C (p.Leu66Pro)
|
rs1553571813
|
|
NM_025243.4(SLC19A3):c.198G>A (p.Leu66=)
|
|
|
NM_025243.4(SLC19A3):c.1A>C (p.Met1Leu)
|
|
|
NM_025243.4(SLC19A3):c.202C>G (p.Leu68Val)
|
|
|
NM_025243.4(SLC19A3):c.20C>A (p.Ser7Ter)
|
rs713993048
|
|
NM_025243.4(SLC19A3):c.210G>A (p.Val70=)
|
|
|
NM_025243.4(SLC19A3):c.21A>T (p.Ser7=)
|
|
|
NM_025243.4(SLC19A3):c.223G>A (p.Asp75Asn)
|
rs980641322
|
|
NM_025243.4(SLC19A3):c.233G>A (p.Arg78His)
|
|
|
NM_025243.4(SLC19A3):c.243A>G (p.Pro81=)
|
|
|
NM_025243.4(SLC19A3):c.24A>T (p.Leu8=)
|
rs150295425
|
|
NM_025243.4(SLC19A3):c.253T>C (p.Leu85=)
|
|
|
NM_025243.4(SLC19A3):c.265A>C (p.Ser89Arg)
|
rs759807393
|
|
NM_025243.4(SLC19A3):c.280T>C (p.Trp94Arg)
|
rs1695586409
|
|
NM_025243.4(SLC19A3):c.306A>C (p.Gly102=)
|
|
|
NM_025243.4(SLC19A3):c.307dup (p.Val103fs)
|
rs2106329494
|
|
NM_025243.4(SLC19A3):c.312G>T (p.Lys104Asn)
|
|
|
NM_025243.4(SLC19A3):c.324T>C (p.Val108=)
|
|
|
NM_025243.4(SLC19A3):c.327A>C (p.Val109=)
|
rs961855863
|
|
NM_025243.4(SLC19A3):c.330G>A (p.Glu110=)
|
|
|
NM_025243.4(SLC19A3):c.334T>G (p.Phe112Val)
|
|
|
NM_025243.4(SLC19A3):c.346G>A (p.Val116Ile)
|
rs779294877
|
|
NM_025243.4(SLC19A3):c.347T>G (p.Val116Gly)
|
|
|
NM_025243.4(SLC19A3):c.354C>T (p.Ala118=)
|
|
|
NM_025243.4(SLC19A3):c.356C>T (p.Ala119Val)
|
|
|
NM_025243.4(SLC19A3):c.357C>A (p.Ala119=)
|
rs753565626
|
|
NM_025243.4(SLC19A3):c.357C>T (p.Ala119=)
|
rs753565626
|
|
NM_025243.4(SLC19A3):c.360G>A (p.Glu120=)
|
rs566837952
|
|
NM_025243.4(SLC19A3):c.368A>G (p.Tyr123Cys)
|
|
|
NM_025243.4(SLC19A3):c.36G>A (p.Trp12Ter)
|
rs778816786
|
|
NM_025243.4(SLC19A3):c.372C>T (p.Tyr124=)
|
|
|
NM_025243.4(SLC19A3):c.375C>T (p.Ala125=)
|
rs1405387596
|
|
NM_025243.4(SLC19A3):c.378C>T (p.Tyr126=)
|
|
|
NM_025243.4(SLC19A3):c.384C>G (p.Tyr128Ter)
|
rs746490830
|
|
NM_025243.4(SLC19A3):c.388G>A (p.Val130Met)
|
rs1247579454
|
|
NM_025243.4(SLC19A3):c.390G>A (p.Val130=)
|
|
|
NM_025243.4(SLC19A3):c.390G>T (p.Val130=)
|
rs376187918
|
|
NM_025243.4(SLC19A3):c.396C>A (p.Ser132Arg)
|
rs1695578483
|
|
NM_025243.4(SLC19A3):c.398C>T (p.Pro133Leu)
|
|
|
NM_025243.4(SLC19A3):c.399C>G (p.Pro133=)
|
rs138363524
|
|
NM_025243.4(SLC19A3):c.399C>T (p.Pro133=)
|
rs138363524
|
|
NM_025243.4(SLC19A3):c.402G>C (p.Glu134Asp)
|
rs1695577939
|
|
NM_025243.4(SLC19A3):c.403C>A (p.His135Asn)
|
rs2106329285
|
|
NM_025243.4(SLC19A3):c.405C>T (p.His135=)
|
|
|
NM_025243.4(SLC19A3):c.406T>C (p.Tyr136His)
|
rs2106329282
|
|
NM_025243.4(SLC19A3):c.416T>A (p.Val139Glu)
|
rs1574560025
|
|
NM_025243.4(SLC19A3):c.417G>C (p.Val139=)
|
rs1044896328
|
|
NM_025243.4(SLC19A3):c.420C>T (p.Ser140=)
|
rs1269159709
|
|
NM_025243.4(SLC19A3):c.421G>T (p.Gly141Cys)
|
rs148144444
|
|
NM_025243.4(SLC19A3):c.426del (p.Cys143fs)
|
rs2106329218
|
|
NM_025243.4(SLC19A3):c.447C>T (p.Ala149=)
|
|
|
NM_025243.4(SLC19A3):c.456A>G (p.Thr152=)
|
|
|
NM_025243.4(SLC19A3):c.457G>A (p.Ala153Thr)
|
|
|
NM_025243.4(SLC19A3):c.45C>G (p.Pro15=)
|
|
|
NM_025243.4(SLC19A3):c.466G>A (p.Val156Met)
|
rs774845903
|
|
NM_025243.4(SLC19A3):c.466G>T (p.Val156Leu)
|
rs774845903
|
|
NM_025243.4(SLC19A3):c.475C>T (p.Gln159Ter)
|
|
|
NM_025243.4(SLC19A3):c.482_483del (p.Leu161fs)
|
rs1271884981
|
|
NM_025243.4(SLC19A3):c.486A>G (p.Val162=)
|
|
|
NM_025243.4(SLC19A3):c.491T>C (p.Leu164Pro)
|
|
|
NM_025243.4(SLC19A3):c.493G>C (p.Ala165Pro)
|
|
|
NM_025243.4(SLC19A3):c.499A>G (p.Met167Val)
|
|
|
NM_025243.4(SLC19A3):c.503C>T (p.Ser168Leu)
|
|
|
NM_025243.4(SLC19A3):c.503_505del (p.Ser168del)
|
rs763130915
|
|
NM_025243.4(SLC19A3):c.504G>A (p.Ser168=)
|
|
|
NM_025243.4(SLC19A3):c.507C>G (p.Tyr169Ter)
|
|
|
NM_025243.4(SLC19A3):c.510T>C (p.Phe170=)
|
|
|
NM_025243.4(SLC19A3):c.513C>A (p.Tyr171Ter)
|
|
|
NM_025243.4(SLC19A3):c.513C>T (p.Tyr171=)
|
rs1353757275
|
|
NM_025243.4(SLC19A3):c.516C>G (p.Leu172=)
|
|
|
NM_025243.4(SLC19A3):c.523A>G (p.Ile175Val)
|
|
|
NM_025243.4(SLC19A3):c.52A>G (p.Ile18Val)
|
rs1574565534
|
|
NM_025243.4(SLC19A3):c.530T>C (p.Leu177Ser)
|
rs1414881891
|
|
NM_025243.4(SLC19A3):c.534C>A (p.Ala178=)
|
|
|
NM_025243.4(SLC19A3):c.534C>T (p.Ala178=)
|
|
|
NM_025243.4(SLC19A3):c.542C>T (p.Ser181Phe)
|
|
|
NM_025243.4(SLC19A3):c.543C>T (p.Ser181=)
|
rs1695567958
|
|
NM_025243.4(SLC19A3):c.548C>T (p.Ala183Val)
|
rs199970847
|
|
NM_025243.4(SLC19A3):c.54C>T (p.Ile18=)
|
rs2106332696
|
|
NM_025243.4(SLC19A3):c.552C>T (p.Phe184=)
|
|
|
NM_025243.4(SLC19A3):c.553C>A (p.Leu185Ile)
|
rs1695567093
|
|
NM_025243.4(SLC19A3):c.558C>G (p.Phe186Leu)
|
rs2106329006
|
|
NM_025243.4(SLC19A3):c.564T>C (p.Leu188=)
|
|
|
NM_025243.4(SLC19A3):c.574A>G (p.Met192Val)
|
|
|
NM_025243.4(SLC19A3):c.577C>T (p.Pro193Ser)
|
rs1695566021
|
|
NM_025243.4(SLC19A3):c.57C>G (p.Leu19=)
|
rs1553572684
|
|
NM_025243.4(SLC19A3):c.582G>A (p.Lys194=)
|
rs754828557
|
|
NM_025243.4(SLC19A3):c.586A>G (p.Ser196Gly)
|
rs1457858397
|
|
NM_025243.4(SLC19A3):c.597del (p.His200fs)
|
|
|
NM_025243.4(SLC19A3):c.597dup (p.His200fs)
|
rs773140674
|
|
NM_025243.4(SLC19A3):c.59G>A (p.Cys20Tyr)
|
rs1695727249
|
|
NM_025243.4(SLC19A3):c.612C>G (p.Ser204Arg)
|
|
|
NM_025243.4(SLC19A3):c.622A>C (p.Lys208Gln)
|
rs770488061
|
|
NM_025243.4(SLC19A3):c.622A>G (p.Lys208Glu)
|
rs770488061
|
|
NM_025243.4(SLC19A3):c.623_626del (p.Lys208fs)
|
|
|
NM_025243.4(SLC19A3):c.636C>A (p.Ser212Arg)
|
rs372767819
|
|
NM_025243.4(SLC19A3):c.636C>T (p.Ser212=)
|
|
|
NM_025243.4(SLC19A3):c.637G>C (p.Val213Leu)
|
rs534012377
|
|
NM_025243.4(SLC19A3):c.639G>C (p.Val213=)
|
|
|
NM_025243.4(SLC19A3):c.63A>G (p.Leu21=)
|
|
|
NM_025243.4(SLC19A3):c.644C>T (p.Pro215Leu)
|
|
|
NM_025243.4(SLC19A3):c.645A>G (p.Pro215=)
|
|
|
NM_025243.4(SLC19A3):c.648A>G (p.Val216=)
|
|
|
NM_025243.4(SLC19A3):c.651A>G (p.Leu217=)
|
|
|
NM_025243.4(SLC19A3):c.662A>C (p.His221Pro)
|
rs863224203
|
|
NM_025243.4(SLC19A3):c.663C>T (p.His221=)
|
|
|
NM_025243.4(SLC19A3):c.675A>G (p.Ala225=)
|
|
|
NM_025243.4(SLC19A3):c.67G>C (p.Gly23Arg)
|
|
|
NM_025243.4(SLC19A3):c.690G>A (p.Glu230=)
|
rs2106328841
|
|
NM_025243.4(SLC19A3):c.69T>C (p.Gly23=)
|
|
|
NM_025243.4(SLC19A3):c.701del (p.Thr234fs)
|
|
|
NM_025243.4(SLC19A3):c.705A>G (p.Ser235=)
|
|
|
NM_025243.4(SLC19A3):c.712C>T (p.Leu238Phe)
|
rs762519804
|
|
NM_025243.4(SLC19A3):c.715A>G (p.Ser239Gly)
|
rs2106328822
|
|
NM_025243.4(SLC19A3):c.717C>T (p.Ser239=)
|
|
|
NM_025243.4(SLC19A3):c.723A>G (p.Ser241=)
|
|
|
NM_025243.4(SLC19A3):c.730C>T (p.Leu244=)
|
|
|
NM_025243.4(SLC19A3):c.732G>A (p.Leu244=)
|
|
|
NM_025243.4(SLC19A3):c.744G>A (p.Gln248=)
|
|
|
NM_025243.4(SLC19A3):c.74dup (p.Ser26fs)
|
rs786205213
|
|
NM_025243.4(SLC19A3):c.751A>G (p.Ser251Gly)
|
|
|
NM_025243.4(SLC19A3):c.752G>A (p.Ser251Asn)
|
|
|
NM_025243.4(SLC19A3):c.754C>T (p.Leu252=)
|
|
|
NM_025243.4(SLC19A3):c.761C>G (p.Pro254Arg)
|
rs1574558960
|
|
NM_025243.4(SLC19A3):c.765C>T (p.Ser255=)
|
|
|
NM_025243.4(SLC19A3):c.766A>G (p.Asn256Asp)
|
rs2106328758
|
|
NM_025243.4(SLC19A3):c.769G>A (p.Val257Met)
|
|
|
NM_025243.4(SLC19A3):c.771G>C (p.Val257=)
|
|
|
NM_025243.4(SLC19A3):c.776_777del (p.Val259fs)
|
rs2106328737
|
|
NM_025243.4(SLC19A3):c.779A>G (p.Asp260Gly)
|
rs371155923
|
|
NM_025243.4(SLC19A3):c.779A>T (p.Asp260Val)
|
rs371155923
|
|
NM_025243.4(SLC19A3):c.780C>T (p.Asp260=)
|
|
|
NM_025243.4(SLC19A3):c.785T>C (p.Phe262Ser)
|
rs769689872
|
|
NM_025243.4(SLC19A3):c.786T>C (p.Phe262=)
|
|
|
NM_025243.4(SLC19A3):c.78C>G (p.Ser26=)
|
rs2106332666
|
|
NM_025243.4(SLC19A3):c.78C>T (p.Ser26=)
|
rs2106332666
|
|
NM_025243.4(SLC19A3):c.795G>A (p.Trp265Ter)
|
|
|
NM_025243.4(SLC19A3):c.805T>C (p.Leu269=)
|
rs2106328713
|
|
NM_025243.4(SLC19A3):c.80TGA[1] (p.Met28del)
|
|
|
NM_025243.4(SLC19A3):c.816C>A (p.Cys272Ter)
|
|
|
NM_025243.4(SLC19A3):c.816C>T (p.Cys272=)
|
rs2106328711
|
|
NM_025243.4(SLC19A3):c.819C>T (p.Tyr273=)
|
rs1574558841
|
|
NM_025243.4(SLC19A3):c.825A>G (p.Ser275=)
|
rs757058630
|
|
NM_025243.4(SLC19A3):c.826A>C (p.Lys276Gln)
|
|
|
NM_025243.4(SLC19A3):c.849A>C (p.Leu283=)
|
|
|
NM_025243.4(SLC19A3):c.84G>A (p.Met28Ile)
|
|
|
NM_025243.4(SLC19A3):c.856del (p.Ala286fs)
|
|
|
NM_025243.4(SLC19A3):c.859T>C (p.Phe287Leu)
|
|
|
NM_025243.4(SLC19A3):c.862G>C (p.Ala288Pro)
|
rs542566978
|
|
NM_025243.4(SLC19A3):c.870A>C (p.Ala290=)
|
|
|
NM_025243.4(SLC19A3):c.876T>C (p.Phe292=)
|
rs1695549459
|
|
NM_025243.4(SLC19A3):c.881A>G (p.Gln294Arg)
|
|
|
NM_025243.4(SLC19A3):c.885_888dup (p.Asn297fs)
|
|
|
NM_025243.4(SLC19A3):c.88C>A (p.Pro30Thr)
|
rs2106332649
|
|
NM_025243.4(SLC19A3):c.892T>G (p.Tyr298Asp)
|
rs2106328613
|
|
NM_025243.4(SLC19A3):c.894T>C (p.Tyr298=)
|
|
|
NM_025243.4(SLC19A3):c.894T>G (p.Tyr298Ter)
|
rs1474448985
|
|
NM_025243.4(SLC19A3):c.905T>C (p.Leu302Pro)
|
rs1695547539
|
|
NM_025243.4(SLC19A3):c.906G>C (p.Leu302=)
|
|
|
NM_025243.4(SLC19A3):c.919G>C (p.Ala307Pro)
|
|
|
NM_025243.4(SLC19A3):c.919G>T (p.Ala307Ser)
|
|
|
NM_025243.4(SLC19A3):c.921G>A (p.Ala307=)
|
|
|
NM_025243.4(SLC19A3):c.923C>T (p.Pro308Leu)
|
rs2106328576
|
|
NM_025243.4(SLC19A3):c.931G>T (p.Asp311Tyr)
|
rs1257911380
|
|
NM_025243.4(SLC19A3):c.942C>A (p.Ile314=)
|
|
|
NM_025243.4(SLC19A3):c.948T>G (p.Asn316Lys)
|
rs1258302828
|
|
NM_025243.4(SLC19A3):c.951G>A (p.Gly317=)
|
|
|
NM_025243.4(SLC19A3):c.955G>C (p.Val319Leu)
|
|
|
NM_025243.4(SLC19A3):c.957A>G (p.Val319=)
|
rs1230756352
|
|
NM_025243.4(SLC19A3):c.958G>C (p.Glu320Gln)
|
rs137852958
|
|
NM_025243.4(SLC19A3):c.961G>A (p.Ala321Thr)
|
rs2106328516
|
|
NM_025243.4(SLC19A3):c.962C>T (p.Ala321Val)
|
rs1282844765
|
|
NM_025243.4(SLC19A3):c.968C>G (p.Ala323Gly)
|
|
|
NM_025243.4(SLC19A3):c.972C>T (p.Thr324=)
|
|
|
NM_025243.4(SLC19A3):c.979+10T>C
|
|
|
NM_025243.4(SLC19A3):c.979+11G>A
|
|
|
NM_025243.4(SLC19A3):c.979+15C>G
|
|
|
NM_025243.4(SLC19A3):c.979+8A>C
|
|
|
NM_025243.4(SLC19A3):c.979+9A>G
|
rs1553571168
|
|
NM_025243.4(SLC19A3):c.980-10T>C
|
rs750918156
|
|
NM_025243.4(SLC19A3):c.980-10T>G
|
|
|
NM_025243.4(SLC19A3):c.980-14A>T
|
|
|
NM_025243.4(SLC19A3):c.980-15A>G
|
|
|
NM_025243.4(SLC19A3):c.980-19C>T
|
|
|
NM_025243.4(SLC19A3):c.980-21_980-17dup
|
|
|
NM_025243.4(SLC19A3):c.980-4del
|
rs11334205
|
|
NM_025243.4(SLC19A3):c.980-5_980-4del
|
|
|
NM_025243.4(SLC19A3):c.980-9T>G
|
|
|
NM_025243.4(SLC19A3):c.981G>T (p.Gly327=)
|
|
|
NM_025243.4(SLC19A3):c.989C>A (p.Ala330Asp)
|
rs1211013989
|
|
NM_025243.4(SLC19A3):c.98C>T (p.Pro33Leu)
|
rs2106332628
|
|
NM_025243.4(SLC19A3):c.990T>G (p.Ala330=)
|
|
|
NM_025243.4(SLC19A3):c.993C>T (p.Ala331=)
|
|
|
NM_025243.4(SLC19A3):c.997G>A (p.Ala333Thr)
|
rs2106326082
|
|
NM_032409.3(PINK1):c.*113G>A
|
rs926301568
|
|
NM_032409.3(PINK1):c.*263C>A
|
rs1339739201
|
|
NM_032409.3(PINK1):c.*510G>A
|
rs886045850
|
|
NM_032409.3(PINK1):c.*519G>A
|
rs1054458936
|
|
NM_032409.3(PINK1):c.*542G>A
|
rs1161485879
|
|
NM_032409.3(PINK1):c.*579C>T
|
rs2053270701
|
|
NM_032409.3(PINK1):c.*613A>G
|
rs886045852
|
|
NM_032409.3(PINK1):c.*64G>A
|
rs1171595625
|
|
NM_032409.3(PINK1):c.*817C>A
|
rs2053279238
|
|
NM_032409.3(PINK1):c.1024A>G (p.Met342Val)
|
rs753186891
|
|
NM_032409.3(PINK1):c.1047C>A (p.Gly349=)
|
rs2053170671
|
|
NM_032409.3(PINK1):c.1099A>C (p.Asn367His)
|
|
|
NM_032409.3(PINK1):c.1099A>G (p.Asn367Asp)
|
|
|
NM_032409.3(PINK1):c.1107T>C (p.Leu369=)
|
|
|
NM_032409.3(PINK1):c.1123+11G>A
|
|
|
NM_032409.3(PINK1):c.1123+12C>G
|
|
|
NM_032409.3(PINK1):c.1123+15C>T
|
|
|
NM_032409.3(PINK1):c.1124-10T>C
|
|
|
NM_032409.3(PINK1):c.1130G>T (p.Cys377Phe)
|
|
|
NM_032409.3(PINK1):c.113C>T (p.Ala38Val)
|
|
|
NM_032409.3(PINK1):c.1155_1156insTGCCCGCGTCCCTTTCTCCATAAAATTCTTCTTAGTAGCTA (p.Gly386delinsCysProArgProPheLeuHisLysIleLeuLeuSerSerTer)
|
|
|
NM_032409.3(PINK1):c.1176G>C (p.Glu392Asp)
|
|
|
NM_032409.3(PINK1):c.1212C>G (p.Tyr404Ter)
|
rs747239996
|
|
NM_032409.3(PINK1):c.1220G>A (p.Arg407Gln)
|
rs556540177
|
|
NM_032409.3(PINK1):c.1252-18C>T
|
|
|
NM_032409.3(PINK1):c.1252-1G>A
|
rs2053228483
|
|
NM_032409.3(PINK1):c.1252-20C>A
|
|
|
NM_032409.3(PINK1):c.1252-2_1272del
|
|
|
NM_032409.3(PINK1):c.1252G>A (p.Val418Met)
|
rs777895210
|
|
NM_032409.3(PINK1):c.1264C>T (p.Arg422Cys)
|
rs374167096
|
|
NM_032409.3(PINK1):c.1265G>A (p.Arg422His)
|
|
|
NM_032409.3(PINK1):c.1271G>A (p.Gly424Asp)
|
|
|
NM_032409.3(PINK1):c.1273C>T (p.Pro425Ser)
|
|
|
NM_032409.3(PINK1):c.1291T>C (p.Tyr431His)
|
rs74315361
|
|
NM_032409.3(PINK1):c.129G>A (p.Gly43=)
|
|
|
NM_032409.3(PINK1):c.1329del (p.Tyr444fs)
|
rs775479526
|
|
NM_032409.3(PINK1):c.1352A>T (p.Asn451Ile)
|
|
|
NM_032409.3(PINK1):c.1356C>T (p.Pro452=)
|
|
|
NM_032409.3(PINK1):c.1367A>G (p.Gln456Arg)
|
|
|
NM_032409.3(PINK1):c.1398C>T (p.Tyr466=)
|
|
|
NM_032409.3(PINK1):c.1488+14C>T
|
|
|
NM_032409.3(PINK1):c.1488+14del
|
|
|
NM_032409.3(PINK1):c.1488+20C>T
|
|
|
NM_032409.3(PINK1):c.1499C>G (p.Ala500Gly)
|
|
|
NM_032409.3(PINK1):c.1501C>T (p.Arg501Ter)
|
|
|
NM_032409.3(PINK1):c.1510G>A (p.Ala504Thr)
|
|
|
NM_032409.3(PINK1):c.1527_1530dup (p.Leu511fs)
|
|
|
NM_032409.3(PINK1):c.1560G>A (p.Lys520=)
|
|
|
NM_032409.3(PINK1):c.1570_1573dup (p.Asp525fs)
|
rs730880302
|
|
NM_032409.3(PINK1):c.158G>A (p.Gly53Asp)
|
|
|
NM_032409.3(PINK1):c.1597CAA[3] (p.Gln534dup)
|
rs750664040
|
|
NM_032409.3(PINK1):c.1600C>T (p.Gln534Ter)
|
|
|
NM_032409.3(PINK1):c.1627A>G (p.Arg543Gly)
|
rs2154534076
|
|
NM_032409.3(PINK1):c.1631_1632delinsCT (p.Leu544Pro)
|
|
|
NM_032409.3(PINK1):c.170_175dup (p.Arg58_Val59insGlyArg)
|
|
|
NM_032409.3(PINK1):c.1719C>G (p.Leu573=)
|
rs201936304
|
|
NM_032409.3(PINK1):c.173G>A (p.Arg58Lys)
|
|
|
NM_032409.3(PINK1):c.184G>C (p.Gly62Arg)
|
|
|
NM_032409.3(PINK1):c.202C>T (p.Arg68Cys)
|
|
|
NM_032409.3(PINK1):c.203_204delinsCT (p.Arg68Pro)
|
|
|
NM_032409.3(PINK1):c.24C>T (p.Gly8=)
|
|
|
NM_032409.3(PINK1):c.25C>G (p.Arg9Gly)
|
rs2154533488
|
|
NM_032409.3(PINK1):c.279G>C (p.Ala93=)
|
rs1224246757
|
|
NM_032409.3(PINK1):c.285T>G (p.Pro95=)
|
|
|
NM_032409.3(PINK1):c.288C>G (p.Cys96Trp)
|
|
|
NM_032409.3(PINK1):c.309del (p.Phe104fs)
|
|
|
NM_032409.3(PINK1):c.314G>T (p.Gly105Val)
|
|
|
NM_032409.3(PINK1):c.315G>A (p.Gly105=)
|
rs1247730138
|
|
NM_032409.3(PINK1):c.328C>A (p.Leu110Ile)
|
|
|
NM_032409.3(PINK1):c.338_346del (p.Glu113_Gln115del)
|
rs2154533504
|
|
NM_032409.3(PINK1):c.364G>C (p.Val122Leu)
|
|
|
NM_032409.3(PINK1):c.377A>C (p.Gln126Pro)
|
|
|
NM_032409.3(PINK1):c.384C>A (p.Ile128=)
|
|
|
NM_032409.3(PINK1):c.385C>G (p.Gln129Glu)
|
|
|
NM_032409.3(PINK1):c.385C>T (p.Gln129Ter)
|
|
|
NM_032409.3(PINK1):c.387+15G>A
|
|
|
NM_032409.3(PINK1):c.387+5G>C
|
|
|
NM_032409.3(PINK1):c.388-18A>G
|
|
|
NM_032409.3(PINK1):c.388-3C>A
|
|
|
NM_032409.3(PINK1):c.388-3C>T
|
rs371971165
|
|
NM_032409.3(PINK1):c.388-5C>T
|
|
|
NM_032409.3(PINK1):c.398C>T (p.Thr133Ile)
|
|
|
NM_032409.3(PINK1):c.413C>A (p.Pro138Gln)
|
|
|
NM_032409.3(PINK1):c.413C>G (p.Pro138Arg)
|
|
|
NM_032409.3(PINK1):c.425C>T (p.Pro142Leu)
|
|
|
NM_032409.3(PINK1):c.426G>C (p.Pro142=)
|
|
|
NM_032409.3(PINK1):c.47C>T (p.Ala16Val)
|
rs897203855
|
|
NM_032409.3(PINK1):c.504T>C (p.Ala168=)
|
rs1030921349
|
|
NM_032409.3(PINK1):c.512A>G (p.Tyr171Cys)
|
|
|
NM_032409.3(PINK1):c.531A>G (p.Thr177=)
|
|
|
NM_032409.3(PINK1):c.556A>G (p.Lys186Glu)
|
|
|
NM_032409.3(PINK1):c.599C>T (p.Ala200Val)
|
|
|
NM_032409.3(PINK1):c.599del (p.Ala200fs)
|
rs1557561340
|
|
NM_032409.3(PINK1):c.606A>G (p.Gly202=)
|
|
|
NM_032409.3(PINK1):c.616G>A (p.Glu206Lys)
|
|
|
NM_032409.3(PINK1):c.620del (p.Arg207fs)
|
rs756677845
|
|
NM_032409.3(PINK1):c.624T>C (p.Ala208=)
|
rs2154533639
|
|
NM_032409.3(PINK1):c.630G>A (p.Gly210=)
|
|
|
NM_032409.3(PINK1):c.630G>T (p.Gly210=)
|
rs2154533640
|
|
NM_032409.3(PINK1):c.634C>T (p.Pro212Ser)
|
rs1159680235
|
|
NM_032409.3(PINK1):c.639C>T (p.Ala213=)
|
|
|
NM_032409.3(PINK1):c.63C>T (p.Phe21=)
|
|
|
NM_032409.3(PINK1):c.644C>G (p.Pro215Arg)
|
rs371854396
|
|
NM_032409.3(PINK1):c.644C>T (p.Pro215Leu)
|
rs371854396
|
|
NM_032409.3(PINK1):c.648G>T (p.Leu216Phe)
|
rs2154533641
|
|
NM_032409.3(PINK1):c.650C>A (p.Ala217Asp)
|
rs74315360
|
|
NM_032409.3(PINK1):c.654C>T (p.Ile218=)
|
|
|
NM_032409.3(PINK1):c.65C>T (p.Thr22Met)
|
|
|
NM_032409.3(PINK1):c.666G>A (p.Trp222Ter)
|
rs2154533643
|
|
NM_032409.3(PINK1):c.668A>T (p.Asn223Ile)
|
|
|
NM_032409.3(PINK1):c.675+8C>T
|
rs1306229464
|
|
NM_032409.3(PINK1):c.675+9C>A
|
|
|
NM_032409.3(PINK1):c.676-17C>G
|
|
|
NM_032409.3(PINK1):c.69C>G (p.Gly23=)
|
rs1364669661
|
|
NM_032409.3(PINK1):c.710del (p.Met237fs)
|
|
|
NM_032409.3(PINK1):c.736C>A (p.Arg246=)
|
rs74315357
|
|
NM_032409.3(PINK1):c.736C>T (p.Arg246Ter)
|
rs74315357
|
|
NM_032409.3(PINK1):c.737G>A (p.Arg246Gln)
|
|
|
NM_032409.3(PINK1):c.741G>A (p.Val247=)
|
|
|
NM_032409.3(PINK1):c.754G>A (p.Glu252Lys)
|
|
|
NM_032409.3(PINK1):c.76G>C (p.Gly26Arg)
|
rs2053015141
|
|
NM_032409.3(PINK1):c.774C>A (p.Tyr258Ter)
|
rs756783990
|
|
NM_032409.3(PINK1):c.776+18G>A
|
|
|
NM_032409.3(PINK1):c.776+1G>A
|
|
|
NM_032409.3(PINK1):c.776+2032G>A
|
|
|
NM_032409.3(PINK1):c.776+2110G>A
|
|
|
NM_032409.3(PINK1):c.776+7G>A
|
|
|
NM_032409.3(PINK1):c.788G>A (p.Arg263Lys)
|
|
|
NM_032409.3(PINK1):c.799C>T (p.Gln267Ter)
|
rs730882053
|
|
NM_032409.3(PINK1):c.813C>A (p.His271Gln)
|
rs28940284
|
|
NM_032409.3(PINK1):c.813C>T (p.His271=)
|
rs28940284
|
|
NM_032409.3(PINK1):c.827G>A (p.Arg276Gln)
|
rs548506734
|
|
NM_032409.3(PINK1):c.837C>T (p.Arg279=)
|
|
|
NM_032409.3(PINK1):c.853G>A (p.Val285Met)
|
|
|
NM_032409.3(PINK1):c.85_106del (p.Tyr29fs)
|
rs1480758482
|
|
NM_032409.3(PINK1):c.864_865delinsAA (p.Pro289Thr)
|
|
|
NM_032409.3(PINK1):c.88G>A (p.Gly30Ser)
|
|
|
NM_032409.3(PINK1):c.88G>C (p.Gly30Arg)
|
rs569753606
|
|
NM_032409.3(PINK1):c.898C>T (p.Pro300Ser)
|
rs2154533833
|
|
NM_032409.3(PINK1):c.902C>T (p.Ser301Leu)
|
rs570833319
|
|
NM_032409.3(PINK1):c.905G>A (p.Arg302His)
|
rs201940147
|
|
NM_032409.3(PINK1):c.913C>G (p.Pro305Ala)
|
|
|
NM_032409.3(PINK1):c.923T>A (p.Leu308Gln)
|
rs398124659
|
|
NM_032409.3(PINK1):c.926G>A (p.Gly309Asp)
|
rs74315355
|
|
NM_032409.3(PINK1):c.960-11C>G
|
rs371943401
|
|
NM_032409.3(PINK1):c.960-12C>A
|
rs2053168832
|
|
NM_032409.3(PINK1):c.960-13C>G
|
rs2053168811
|
|
NM_032409.3(PINK1):c.960-18del
|
rs754009779
|
|
NM_032409.3(PINK1):c.960-4C>T
|
|
|
NM_032409.3(PINK1):c.960-8T>A
|
|
|
NM_032409.3(PINK1):c.966C>G (p.Pro322=)
|
|
|
NM_032603.5(LOXL3):c.*84C>T
|
rs886056349
|
|
NM_152296.5(ATP1A3):c.*206T>C
|
rs1197209551
|
|
NM_152296.5(ATP1A3):c.*247C>T
|
rs565195548
|
|
NM_152296.5(ATP1A3):c.*280T>A
|
rs886054472
|
|
NM_152296.5(ATP1A3):c.*99C>G
|
rs1555858636
|
|
NM_152296.5(ATP1A3):c.-130GACG[3]
|
rs879996553
|
|
NM_152296.5(ATP1A3):c.1006C>T (p.Leu336=)
|
rs1555863734
|
|
NM_152296.5(ATP1A3):c.1011C>A (p.Thr337=)
|
|
|
NM_152296.5(ATP1A3):c.1011C>G (p.Thr337=)
|
rs782312004
|
|
NM_152296.5(ATP1A3):c.1011C>T (p.Thr337=)
|
rs782312004
|
|
NM_152296.5(ATP1A3):c.1012G>A (p.Ala338Thr)
|
rs2145972624
|
|
NM_152296.5(ATP1A3):c.1013C>A (p.Ala338Asp)
|
rs2075238567
|
|
NM_152296.5(ATP1A3):c.1018C>T (p.Arg340Cys)
|
|
|
NM_152296.5(ATP1A3):c.1036T>C (p.Cys346Arg)
|
rs1599719534
|
|
NM_152296.5(ATP1A3):c.1050C>A (p.Asn350Lys)
|
|
|
NM_152296.5(ATP1A3):c.1071G>A (p.Leu357=)
|
rs2075237640
|
|
NM_152296.5(ATP1A3):c.1072G>A (p.Gly358Ser)
|
rs606231432
|
|
NM_152296.5(ATP1A3):c.1072G>T (p.Gly358Cys)
|
rs606231432
|
|
NM_152296.5(ATP1A3):c.1073G>A (p.Gly358Asp)
|
rs1555863693
|
|
NM_152296.5(ATP1A3):c.1073G>C (p.Gly358Ala)
|
rs1555863693
|
|
NM_152296.5(ATP1A3):c.1073G>T (p.Gly358Val)
|
rs1555863693
|
|
NM_152296.5(ATP1A3):c.1079C>G (p.Thr360Arg)
|
|
|
NM_152296.5(ATP1A3):c.1088T>A (p.Ile363Asn)
|
rs2145972483
|
|
NM_152296.5(ATP1A3):c.1088T>C (p.Ile363Thr)
|
rs2145972483
|
|
NM_152296.5(ATP1A3):c.108G>A (p.Met36Ile)
|
rs1599725994
|
|
NM_152296.5(ATP1A3):c.1096G>A (p.Asp366Asn)
|
rs2145972473
|
|
NM_152296.5(ATP1A3):c.1103C>T (p.Thr368Ile)
|
rs1599719492
|
|
NM_152296.5(ATP1A3):c.1107G>A (p.Gly369=)
|
|
|
NM_152296.5(ATP1A3):c.1108A>G (p.Thr370Ala)
|
rs2145972442
|
|
NM_152296.5(ATP1A3):c.1109C>T (p.Thr370Ile)
|
|
|
NM_152296.5(ATP1A3):c.1111C>G (p.Leu371Val)
|
|
|
NM_152296.5(ATP1A3):c.111A>C (p.Ser37=)
|
rs1555866210
|
|
NM_152296.5(ATP1A3):c.1122C>T (p.Asn374=)
|
|
|
NM_152296.5(ATP1A3):c.1124G>A (p.Arg375His)
|
rs200891944
|
|
NM_152296.5(ATP1A3):c.1133T>C (p.Val378Ala)
|
rs2145972381
|
|
NM_152296.5(ATP1A3):c.1137C>T (p.Ala379=)
|
|
|
NM_152296.5(ATP1A3):c.113T>C (p.Val38Ala)
|
rs886044790
|
|
NM_152296.5(ATP1A3):c.1161C>T (p.Ile387=)
|
rs2075236406
|
|
NM_152296.5(ATP1A3):c.1164C>A (p.His388Gln)
|
rs201446077
|
|
NM_152296.5(ATP1A3):c.1185C>T (p.Asp395=)
|
|
|
NM_152296.5(ATP1A3):c.1186C>G (p.Gln396Glu)
|
|
|
NM_152296.5(ATP1A3):c.1192+10G>A
|
rs2145972233
|
|
NM_152296.5(ATP1A3):c.1192+12_1192+23del
|
rs2145972211
|
|
NM_152296.5(ATP1A3):c.1192+16G>A
|
|
|
NM_152296.5(ATP1A3):c.1192+16G>C
|
|
|
NM_152296.5(ATP1A3):c.1192+18G>C
|
|
|
NM_152296.5(ATP1A3):c.1192+3G>C
|
|
|
NM_152296.5(ATP1A3):c.1192+7G>A
|
rs374826826
|
|
NM_152296.5(ATP1A3):c.1192+7G>C
|
rs374826826
|
|
NM_152296.5(ATP1A3):c.1193-13A>T
|
|
|
NM_152296.5(ATP1A3):c.1197C>A (p.Thr399=)
|
rs781903799
|
|
NM_152296.5(ATP1A3):c.1207A>G (p.Lys403Glu)
|
|
|
NM_152296.5(ATP1A3):c.1222T>C (p.Trp408Arg)
|
|
|
NM_152296.5(ATP1A3):c.1230C>T (p.Ala410=)
|
|
|
NM_152296.5(ATP1A3):c.1232T>C (p.Leu411Pro)
|
rs1568862410
|
|
NM_152296.5(ATP1A3):c.1238A>G (p.His413Arg)
|
|
|
NM_152296.5(ATP1A3):c.1242C>A (p.Ile414=)
|
|
|
NM_152296.5(ATP1A3):c.1243G>C (p.Ala415Pro)
|
|
|
NM_152296.5(ATP1A3):c.124T>C (p.Cys42Arg)
|
rs2075305399
|
|
NM_152296.5(ATP1A3):c.1260C>G (p.Arg420=)
|
rs113909283
|
|
NM_152296.5(ATP1A3):c.1269C>T (p.Phe423=)
|
|
|
NM_152296.5(ATP1A3):c.126C>T (p.Cys42=)
|
|
|
NM_152296.5(ATP1A3):c.1279C>G (p.Gln427Glu)
|
rs2075234284
|
|
NM_152296.5(ATP1A3):c.127C>T (p.Arg43Trp)
|
|
|
NM_152296.5(ATP1A3):c.1288A>G (p.Ile430Val)
|
rs1555863472
|
|
NM_152296.5(ATP1A3):c.1290C>G (p.Ile430Met)
|
|
|
NM_152296.5(ATP1A3):c.1290C>T (p.Ile430=)
|
|
|
NM_152296.5(ATP1A3):c.1299del (p.Lys434fs)
|
|
|
NM_152296.5(ATP1A3):c.1302+1G>A
|
rs1599719130
|
|
NM_152296.5(ATP1A3):c.1303-12T>G
|
|
|
NM_152296.5(ATP1A3):c.1303-14C>G
|
rs1555863411
|
|
NM_152296.5(ATP1A3):c.1303-19C>A
|
|
|
NM_152296.5(ATP1A3):c.1303-20A>T
|
|
|
NM_152296.5(ATP1A3):c.1303-5T>G
|
rs782123500
|
|
NM_152296.5(ATP1A3):c.1304G>A (p.Arg435Lys)
|
|
|
NM_152296.5(ATP1A3):c.1314T>C (p.Ala438=)
|
|
|
NM_152296.5(ATP1A3):c.1322C>T (p.Ala441Val)
|
rs2075232659
|
|
NM_152296.5(ATP1A3):c.1323G>A (p.Ala441=)
|
rs34578730
|
|
NM_152296.5(ATP1A3):c.1323G>T (p.Ala441=)
|
rs34578730
|
|
NM_152296.5(ATP1A3):c.1326T>C (p.Ser442=)
|
|
|
NM_152296.5(ATP1A3):c.1336C>G (p.Leu446Val)
|
rs2075232387
|
|
NM_152296.5(ATP1A3):c.1338G>A (p.Leu446=)
|
rs1555863367
|
|
NM_152296.5(ATP1A3):c.1351G>A (p.Glu451Lys)
|
|
|
NM_152296.5(ATP1A3):c.1354C>T (p.Leu452=)
|
rs1555863355
|
|
NM_152296.5(ATP1A3):c.1356G>T (p.Leu452=)
|
|
|
NM_152296.5(ATP1A3):c.1357T>G (p.Ser453Ala)
|
rs1480822980
|
|
NM_152296.5(ATP1A3):c.1369G>C (p.Val457Leu)
|
rs2145971610
|
|
NM_152296.5(ATP1A3):c.1377G>A (p.Leu459=)
|
|
|
NM_152296.5(ATP1A3):c.1384G>A (p.Glu462Lys)
|
rs2075231792
|
|
NM_152296.5(ATP1A3):c.1392C>T (p.Asn464=)
|
|
|
NM_152296.5(ATP1A3):c.13A>G (p.Lys5Glu)
|
rs2145984238
|
|
NM_152296.5(ATP1A3):c.1401G>A (p.Val467=)
|
|
|
NM_152296.5(ATP1A3):c.1416C>T (p.Phe472=)
|
|
|
NM_152296.5(ATP1A3):c.141A>G (p.Thr47=)
|
|
|
NM_152296.5(ATP1A3):c.1429A>T (p.Lys477Ter)
|
rs2145971509
|
|
NM_152296.5(ATP1A3):c.1437+4C>T
|
rs2145971500
|
|
NM_152296.5(ATP1A3):c.1437+5T>A
|
|
|
NM_152296.5(ATP1A3):c.1438-2A>G
|
rs2075199553
|
|
NM_152296.5(ATP1A3):c.1454C>T (p.Thr485Ile)
|
rs1555862366
|
|
NM_152296.5(ATP1A3):c.1456G>A (p.Glu486Lys)
|
rs1599716048
|
|
NM_152296.5(ATP1A3):c.1462C>T (p.Pro488Ser)
|
|
|
NM_152296.5(ATP1A3):c.1466A>G (p.Asn489Ser)
|
rs2075199183
|
|
NM_152296.5(ATP1A3):c.1468G>A (p.Asp490Asn)
|
|
|
NM_152296.5(ATP1A3):c.1483C>T (p.Leu495=)
|
rs1555862344
|
|
NM_152296.5(ATP1A3):c.1485G>A (p.Leu495=)
|
rs1555862341
|
|
NM_152296.5(ATP1A3):c.1491G>C (p.Met497Ile)
|
rs2075198787
|
|
NM_152296.5(ATP1A3):c.1494G>A (p.Lys498=)
|
rs1555862337
|
|
NM_152296.5(ATP1A3):c.1495G>A (p.Gly499Ser)
|
rs2145966073
|
|
NM_152296.5(ATP1A3):c.1499C>G (p.Ala500Gly)
|
|
|
NM_152296.5(ATP1A3):c.1500C>A (p.Ala500=)
|
rs146606627
|
|
NM_152296.5(ATP1A3):c.1512C>A (p.Ile504=)
|
rs2145966048
|
|
NM_152296.5(ATP1A3):c.1525T>G (p.Ser509Ala)
|
|
|
NM_152296.5(ATP1A3):c.153+20T>C
|
|
|
NM_152296.5(ATP1A3):c.1538T>A (p.Leu513Gln)
|
|
|
NM_152296.5(ATP1A3):c.154-13C>A
|
|
|
NM_152296.5(ATP1A3):c.154-13C>G
|
|
|
NM_152296.5(ATP1A3):c.154-14C>T
|
|
|
NM_152296.5(ATP1A3):c.154-20G>A
|
rs782526131
|
|
NM_152296.5(ATP1A3):c.1541A>C (p.Gln514Pro)
|
rs2145965993
|
|
NM_152296.5(ATP1A3):c.1542G>C (p.Gln514His)
|
|
|
NM_152296.5(ATP1A3):c.1548G>A (p.Lys516=)
|
|
|
NM_152296.5(ATP1A3):c.1549G>C (p.Glu517Gln)
|
rs782583311
|
|
NM_152296.5(ATP1A3):c.1552C>G (p.Gln518Glu)
|
|
|
NM_152296.5(ATP1A3):c.1555C>A (p.Pro519Thr)
|
|
|
NM_152296.5(ATP1A3):c.1563C>T (p.Asp521=)
|
rs368551273
|
|
NM_152296.5(ATP1A3):c.1564G>A (p.Glu522Lys)
|
rs782769181
|
|
NM_152296.5(ATP1A3):c.15A>G (p.Lys5=)
|
rs886054476
|
|
NM_152296.5(ATP1A3):c.1609G>A (p.Gly537Ser)
|
rs2145965881
|
|
NM_152296.5(ATP1A3):c.1621C>T (p.Arg541Cys)
|
rs1555862292
|
|
NM_152296.5(ATP1A3):c.1624G>T (p.Val542Leu)
|
|
|
NM_152296.5(ATP1A3):c.1629T>C (p.Leu543=)
|
|
|
NM_152296.5(ATP1A3):c.1630+13C>G
|
|
|
NM_152296.5(ATP1A3):c.1630+13C>T
|
|
|
NM_152296.5(ATP1A3):c.1630+17C>A
|
rs782259548
|
|
NM_152296.5(ATP1A3):c.1630+17C>T
|
|
|
NM_152296.5(ATP1A3):c.1630+18G>A
|
|
|
NM_152296.5(ATP1A3):c.1630+2T>C
|
rs2145965854
|
|
NM_152296.5(ATP1A3):c.1630+4C>T
|
|
|
NM_152296.5(ATP1A3):c.1631-16C>G
|
|
|
NM_152296.5(ATP1A3):c.1631-8G>A
|
|
|
NM_152296.5(ATP1A3):c.1651C>T (p.Pro551Ser)
|
rs2075193911
|
|
NM_152296.5(ATP1A3):c.1653C>T (p.Pro551=)
|
rs782493144
|
|
NM_152296.5(ATP1A3):c.1657G>A (p.Glu553Lys)
|
rs2075193714
|
|
NM_152296.5(ATP1A3):c.1672G>A (p.Gly558Ser)
|
|
|
NM_152296.5(ATP1A3):c.1673G>A (p.Gly558Asp)
|
rs2075193579
|
|
NM_152296.5(ATP1A3):c.1716C>G (p.Asn572Lys)
|
rs782017635
|
|
NM_152296.5(ATP1A3):c.1719C>A (p.Leu573=)
|
rs886054474
|
|
NM_152296.5(ATP1A3):c.1740C>G (p.Ser580=)
|
|
|
NM_152296.5(ATP1A3):c.1740C>T (p.Ser580=)
|
|
|
NM_152296.5(ATP1A3):c.1747G>A (p.Asp583Asn)
|
rs2145964907
|
|
NM_152296.5(ATP1A3):c.1755C>G (p.Pro585=)
|
|
|
NM_152296.5(ATP1A3):c.1755C>T (p.Pro585=)
|
|
|
NM_152296.5(ATP1A3):c.1764C>T (p.Ala588=)
|
|
|
NM_152296.5(ATP1A3):c.1775C>A (p.Ala592Glu)
|
rs1599715351
|
|
NM_152296.5(ATP1A3):c.1775C>T (p.Ala592Val)
|
rs1599715351
|
|
NM_152296.5(ATP1A3):c.1784_1792del (p.Lys595_Arg597del)
|
|
|
NM_152296.5(ATP1A3):c.1789C>T (p.Arg597Cys)
|
rs2075192084
|
|
NM_152296.5(ATP1A3):c.1790G>A (p.Arg597His)
|
rs1599715341
|
|
NM_152296.5(ATP1A3):c.1795G>A (p.Ala599Thr)
|
rs1057519113
|
|
NM_152296.5(ATP1A3):c.1795G>C (p.Ala599Pro)
|
|
|
NM_152296.5(ATP1A3):c.1801A>T (p.Ile601Phe)
|
rs1599715325
|
|
NM_152296.5(ATP1A3):c.1803C>T (p.Ile601=)
|
|
|
NM_152296.5(ATP1A3):c.1806+12G>C
|
rs1555862070
|
|
NM_152296.5(ATP1A3):c.1807-14A>T
|
|
|
NM_152296.5(ATP1A3):c.1807-2A>G
|
|
|
NM_152296.5(ATP1A3):c.1807-5T>C
|
rs2145964609
|
|
NM_152296.5(ATP1A3):c.1807-7C>A
|
|
|
NM_152296.5(ATP1A3):c.1812C>A (p.Ile604=)
|
|
|
NM_152296.5(ATP1A3):c.1820C>T (p.Thr607Ile)
|
rs2145964580
|
|
NM_152296.5(ATP1A3):c.1825G>A (p.Asp609Asn)
|
rs2075190697
|
|
NM_152296.5(ATP1A3):c.1830C>T (p.His610=)
|
|
|
NM_152296.5(ATP1A3):c.1838C>T (p.Thr613Met)
|
|
|
NM_152296.5(ATP1A3):c.1839G>C (p.Thr613=)
|
rs376852509
|
|
NM_152296.5(ATP1A3):c.1843A>G (p.Lys615Glu)
|
|
|
NM_152296.5(ATP1A3):c.1853C>A (p.Ala618Asp)
|
|
|
NM_152296.5(ATP1A3):c.1853C>T (p.Ala618Val)
|
|
|
NM_152296.5(ATP1A3):c.1854C>T (p.Ala618=)
|
|
|
NM_152296.5(ATP1A3):c.1872C>T (p.Ile624=)
|
rs1599715179
|
|
NM_152296.5(ATP1A3):c.1881C>T (p.Gly627=)
|
|
|
NM_152296.5(ATP1A3):c.1884C>A (p.Asn628Lys)
|
rs144130986
|
|
NM_152296.5(ATP1A3):c.18T>C (p.Asp6=)
|
|
|
NM_152296.5(ATP1A3):c.1902C>T (p.Ile634=)
|
|
|
NM_152296.5(ATP1A3):c.1906G>T (p.Ala636Ser)
|
|
|
NM_152296.5(ATP1A3):c.1917C>T (p.Asn639=)
|
rs2145964395
|
|
NM_152296.5(ATP1A3):c.1923C>G (p.Pro641=)
|
rs370996990
|
|
NM_152296.5(ATP1A3):c.1928G>A (p.Ser643Asn)
|
rs2145964356
|
|
NM_152296.5(ATP1A3):c.1928G>C (p.Ser643Thr)
|
|
|
NM_152296.5(ATP1A3):c.1930C>T (p.Gln644Ter)
|
rs1555861946
|
|
NM_152296.5(ATP1A3):c.1931A>T (p.Gln644Leu)
|
rs1060500992
|
|
NM_152296.5(ATP1A3):c.1932G>A (p.Gln644=)
|
rs1599715062
|
|
NM_152296.5(ATP1A3):c.1932G>C (p.Gln644His)
|
|
|
NM_152296.5(ATP1A3):c.1943+7C>T
|
rs2145964292
|
|
NM_152296.5(ATP1A3):c.1944-16T>A
|
|
|
NM_152296.5(ATP1A3):c.1944-19C>T
|
|
|
NM_152296.5(ATP1A3):c.1947T>C (p.Asp649=)
|
|
|
NM_152296.5(ATP1A3):c.1954G>C (p.Ala652Pro)
|
rs2075173086
|
|
NM_152296.5(ATP1A3):c.1959C>A (p.Cys653Ter)
|
rs782105093
|
|
NM_152296.5(ATP1A3):c.196G>A (p.Gly66Arg)
|
rs2145983320
|
|
NM_152296.5(ATP1A3):c.1971C>A (p.Gly657=)
|
|
|
NM_152296.5(ATP1A3):c.1975G>T (p.Asp659Tyr)
|
rs375193034
|
|
NM_152296.5(ATP1A3):c.1980C>G (p.Leu660=)
|
rs1281745816
|
|
NM_152296.5(ATP1A3):c.1992C>T (p.Thr664=)
|
|
|
NM_152296.5(ATP1A3):c.2010G>A (p.Glu670=)
|
|
|
NM_152296.5(ATP1A3):c.2016G>A (p.Leu672=)
|
rs2145961560
|
|
NM_152296.5(ATP1A3):c.2019G>A (p.Gln673=)
|
|
|
NM_152296.5(ATP1A3):c.2027C>T (p.Thr676Ile)
|
|
|
NM_152296.5(ATP1A3):c.2034C>T (p.Ile678=)
|
rs2145961533
|
|
NM_152296.5(ATP1A3):c.2035G>A (p.Val679Ile)
|
rs781854249
|
|
NM_152296.5(ATP1A3):c.2035G>T (p.Val679Phe)
|
rs781854249
|
|
NM_152296.5(ATP1A3):c.2036T>C (p.Val679Ala)
|
|
|
NM_152296.5(ATP1A3):c.2049A>T (p.Thr683=)
|
|
|
NM_152296.5(ATP1A3):c.2051C>A (p.Ser684Tyr)
|
|
|
NM_152296.5(ATP1A3):c.2051C>T (p.Ser684Phe)
|
rs397515577
|
|
NM_152296.5(ATP1A3):c.2088G>A (p.Gln696=)
|
|
|
NM_152296.5(ATP1A3):c.2094+10G>A
|
|
|
NM_152296.5(ATP1A3):c.2094+10G>T
|
|
|
NM_152296.5(ATP1A3):c.2094+11C>A
|
|
|
NM_152296.5(ATP1A3):c.2094+15C>G
|
|
|
NM_152296.5(ATP1A3):c.2094+16G>A
|
|
|
NM_152296.5(ATP1A3):c.2094+2_2094+3del
|
|
|
NM_152296.5(ATP1A3):c.2094G>A (p.Gln698=)
|
rs782060744
|
|
NM_152296.5(ATP1A3):c.2095-10C>T
|
rs201423892
|
|
NM_152296.5(ATP1A3):c.2095-12C>G
|
rs781875807
|
|
NM_152296.5(ATP1A3):c.2095-17A>C
|
|
|
NM_152296.5(ATP1A3):c.2095-1G>A
|
rs2145959709
|
|
NM_152296.5(ATP1A3):c.2095-3C>T
|
rs782736392
|
|
NM_152296.5(ATP1A3):c.2095-4C>T
|
|
|
NM_152296.5(ATP1A3):c.2095-5_2095-4insCCCTTACCCTGCA
|
rs782804502
|
|
NM_152296.5(ATP1A3):c.2095-7C>T
|
rs1599712675
|
|
NM_152296.5(ATP1A3):c.2096G>A (p.Gly699Asp)
|
rs2075159832
|
|
NM_152296.5(ATP1A3):c.2100A>G (p.Ala700=)
|
|
|
NM_152296.5(ATP1A3):c.2109T>G (p.Ala703=)
|
|
|
NM_152296.5(ATP1A3):c.2116G>A (p.Gly706Arg)
|
rs782175860
|
|
NM_152296.5(ATP1A3):c.2116G>C (p.Gly706Arg)
|
|
|
NM_152296.5(ATP1A3):c.2122G>A (p.Gly708Ser)
|
rs782288524
|
|
NM_152296.5(ATP1A3):c.2124T>G (p.Gly708=)
|
|
|
NM_152296.5(ATP1A3):c.2128A>C (p.Asn710His)
|
|
|
NM_152296.5(ATP1A3):c.2131G>A (p.Asp711Asn)
|
|
|
NM_152296.5(ATP1A3):c.2136C>T (p.Ser712=)
|
rs2075159123
|
|
NM_152296.5(ATP1A3):c.2139C>T (p.Pro713=)
|
rs141362710
|
|
NM_152296.5(ATP1A3):c.213G>A (p.Thr71=)
|
rs1555866049
|
|
NM_152296.5(ATP1A3):c.213G>T (p.Thr71=)
|
rs1555866049
|
|
NM_152296.5(ATP1A3):c.2140G>A (p.Ala714Thr)
|
rs2145959562
|
|
NM_152296.5(ATP1A3):c.2144T>C (p.Leu715Pro)
|
rs2075159021
|
|
NM_152296.5(ATP1A3):c.2153C>A (p.Ala718Asp)
|
rs2075158829
|
|
NM_152296.5(ATP1A3):c.2167G>C (p.Ala723Pro)
|
|
|
NM_152296.5(ATP1A3):c.2191G>A (p.Val731Ile)
|
rs1131691813
|
|
NM_152296.5(ATP1A3):c.2195C>A (p.Ser732Tyr)
|
rs1599712523
|
|
NM_152296.5(ATP1A3):c.2203G>A (p.Ala735Thr)
|
rs2075158274
|
|
NM_152296.5(ATP1A3):c.2205A>G (p.Ala735=)
|
|
|
NM_152296.5(ATP1A3):c.2208T>C (p.Ala736=)
|
rs1599712506
|
|
NM_152296.5(ATP1A3):c.2224GAC[1] (p.Asp743del)
|
|
|
NM_152296.5(ATP1A3):c.2225A>T (p.Asp742Val)
|
rs2145959393
|
|
NM_152296.5(ATP1A3):c.2227G>A (p.Asp743Asn)
|
rs1555860790
|
|
NM_152296.5(ATP1A3):c.2227G>T (p.Asp743Tyr)
|
|
|
NM_152296.5(ATP1A3):c.2232C>A (p.Asn744Lys)
|
|
|
NM_152296.5(ATP1A3):c.2240C>A (p.Ser747Tyr)
|
|
|
NM_152296.5(ATP1A3):c.2244C>A (p.Ile748=)
|
|
|
NM_152296.5(ATP1A3):c.2245G>A (p.Val749Ile)
|
rs2075157919
|
|
NM_152296.5(ATP1A3):c.2251G>A (p.Gly751Arg)
|
rs1599712463
|
|
NM_152296.5(ATP1A3):c.2252G>A (p.Gly751Glu)
|
rs1599712456
|
|
NM_152296.5(ATP1A3):c.2256G>A (p.Val752=)
|
rs2075157702
|
|
NM_152296.5(ATP1A3):c.2258A>G (p.Glu753Gly)
|
|
|
NM_152296.5(ATP1A3):c.225C>G (p.Thr75=)
|
|
|
NM_152296.5(ATP1A3):c.2263+10C>A
|
rs1339140939
|
|
NM_152296.5(ATP1A3):c.2263+20C>A
|
|
|
NM_152296.5(ATP1A3):c.2263+8G>A
|
rs1568858162
|
|
NM_152296.5(ATP1A3):c.2263G>A (p.Gly755Ser)
|
rs557052809
|
|
NM_152296.5(ATP1A3):c.2263G>T (p.Gly755Cys)
|
rs557052809
|
|
NM_152296.5(ATP1A3):c.2264-20T>A
|
|
|
NM_152296.5(ATP1A3):c.2264-8T>C
|
|
|
NM_152296.5(ATP1A3):c.2264G>C (p.Gly755Ala)
|
rs606231434
|
|
NM_152296.5(ATP1A3):c.2265C>T (p.Gly755=)
|
|
|
NM_152296.5(ATP1A3):c.2266C>T (p.Arg756Cys)
|
rs1064797245
|
|
NM_152296.5(ATP1A3):c.2267G>A (p.Arg756His)
|
rs606231435
|
|
NM_152296.5(ATP1A3):c.2267G>T (p.Arg756Leu)
|
rs606231435
|
|
NM_152296.5(ATP1A3):c.2273T>G (p.Ile758Ser)
|
rs80356535
|
|
NM_152296.5(ATP1A3):c.227C>T (p.Thr76Ile)
|
rs2145983246
|
|
NM_152296.5(ATP1A3):c.2280C>T (p.Asp760=)
|
|
|
NM_152296.5(ATP1A3):c.2303A>G (p.Tyr768Cys)
|
rs1599706613
|
|
NM_152296.5(ATP1A3):c.2309T>G (p.Leu770Arg)
|
|
|
NM_152296.5(ATP1A3):c.2315G>A (p.Ser772Asn)
|
rs1064795234
|
|
NM_152296.5(ATP1A3):c.2318A>G (p.Asn773Ser)
|
rs606231437
|
|
NM_152296.5(ATP1A3):c.2324C>T (p.Pro775Leu)
|
rs886041396
|
|
NM_152296.5(ATP1A3):c.2325G>C (p.Pro775=)
|
rs150943961
|
|
NM_152296.5(ATP1A3):c.2331C>T (p.Ile777=)
|
rs782443507
|
|
NM_152296.5(ATP1A3):c.2332A>C (p.Thr778Pro)
|
rs1599706511
|
|
NM_152296.5(ATP1A3):c.2338T>C (p.Phe780Leu)
|
rs80356536
|
|
NM_152296.5(ATP1A3):c.2340C>T (p.Phe780=)
|
rs1351846628
|
|
NM_152296.5(ATP1A3):c.2353A>G (p.Met785Val)
|
|
|
NM_152296.5(ATP1A3):c.2354T>A (p.Met785Lys)
|
rs2075091235
|
|
NM_152296.5(ATP1A3):c.2364C>A (p.Ile788=)
|
|
|
NM_152296.5(ATP1A3):c.2364C>T (p.Ile788=)
|
rs1555859582
|
|
NM_152296.5(ATP1A3):c.2366C>T (p.Pro789Leu)
|
|
|
NM_152296.5(ATP1A3):c.2371C>T (p.Pro791Ser)
|
rs1599706459
|
|
NM_152296.5(ATP1A3):c.2382C>T (p.Thr794=)
|
|
|
NM_152296.5(ATP1A3):c.2393T>C (p.Leu798Pro)
|
rs1568854359
|
|
NM_152296.5(ATP1A3):c.2401G>A (p.Asp801Asn)
|
|
|
NM_152296.5(ATP1A3):c.2401G>T (p.Asp801Tyr)
|
rs80356537
|
|
NM_152296.5(ATP1A3):c.2403T>A (p.Asp801Glu)
|
rs1568854338
|
|
NM_152296.5(ATP1A3):c.2406G>A (p.Leu802=)
|
|
|
NM_152296.5(ATP1A3):c.2407G>C (p.Gly803Arg)
|
rs2075090666
|
|
NM_152296.5(ATP1A3):c.2408G>A (p.Gly803Asp)
|
rs1555859571
|
|
NM_152296.5(ATP1A3):c.2415C>G (p.Asp805Glu)
|
rs606231439
|
|
NM_152296.5(ATP1A3):c.2417T>G (p.Met806Arg)
|
rs549006436
|
|
NM_152296.5(ATP1A3):c.2418+13A>T
|
|
|
NM_152296.5(ATP1A3):c.2418+16C>T
|
rs2145947877
|
|
NM_152296.5(ATP1A3):c.2418+19C>A
|
|
|
NM_152296.5(ATP1A3):c.2418+8C>T
|
|
|
NM_152296.5(ATP1A3):c.2418+9T>G
|
rs950336124
|
|
NM_152296.5(ATP1A3):c.2419-14C>A
|
rs2075089174
|
|
NM_152296.5(ATP1A3):c.2419-14C>T
|
rs2075089174
|
|
NM_152296.5(ATP1A3):c.2419-15G>T
|
|
|
NM_152296.5(ATP1A3):c.2419G>A (p.Val807Ile)
|
|
|
NM_152296.5(ATP1A3):c.2428A>G (p.Ile810Val)
|
|
|
NM_152296.5(ATP1A3):c.2431T>C (p.Ser811Pro)
|
rs387907282
|
|
NM_152296.5(ATP1A3):c.2434C>G (p.Leu812Val)
|
|
|
NM_152296.5(ATP1A3):c.2438C>T (p.Ala813Val)
|
|
|
NM_152296.5(ATP1A3):c.2443G>A (p.Glu815Lys)
|
rs387907281
|
|
NM_152296.5(ATP1A3):c.2447C>G (p.Ala816Gly)
|
|
|
NM_152296.5(ATP1A3):c.2452G>A (p.Glu818Lys)
|
rs587777771
|
|
NM_152296.5(ATP1A3):c.2456G>A (p.Ser819Asn)
|
rs2075088473
|
|
NM_152296.5(ATP1A3):c.2461A>C (p.Ile821Leu)
|
rs2145947547
|
|
NM_152296.5(ATP1A3):c.2469G>A (p.Lys823=)
|
rs782260220
|
|
NM_152296.5(ATP1A3):c.2481G>A (p.Arg827=)
|
|
|
NM_152296.5(ATP1A3):c.2488C>A (p.Arg830=)
|
|
|
NM_152296.5(ATP1A3):c.2491A>T (p.Thr831Ser)
|
|
|
NM_152296.5(ATP1A3):c.2493G>C (p.Thr831=)
|
rs374157034
|
|
NM_152296.5(ATP1A3):c.2496C>T (p.Asp832=)
|
|
|
NM_152296.5(ATP1A3):c.24G>T (p.Lys8Asn)
|
|
|
NM_152296.5(ATP1A3):c.2509G>A (p.Glu837Lys)
|
rs2075087967
|
|
NM_152296.5(ATP1A3):c.250C>G (p.Arg84Gly)
|
rs1555866028
|
|
NM_152296.5(ATP1A3):c.2514A>G (p.Arg838=)
|
|
|
NM_152296.5(ATP1A3):c.2525T>C (p.Met842Thr)
|
|
|
NM_152296.5(ATP1A3):c.2531A>G (p.Tyr844Cys)
|
|
|
NM_152296.5(ATP1A3):c.2533G>A (p.Gly845Arg)
|
|
|
NM_152296.5(ATP1A3):c.2542+10C>G
|
rs782693337
|
|
NM_152296.5(ATP1A3):c.2542+10C>T
|
|
|
NM_152296.5(ATP1A3):c.2542+13G>C
|
|
|
NM_152296.5(ATP1A3):c.2542+17T>C
|
|
|
NM_152296.5(ATP1A3):c.2542+1G>A
|
rs606231441
|
|
NM_152296.5(ATP1A3):c.2542+1G>C
|
rs606231441
|
|
NM_152296.5(ATP1A3):c.2543-10C>T
|
|
|
NM_152296.5(ATP1A3):c.2543-13C>T
|
|
|
NM_152296.5(ATP1A3):c.2543-18C>T
|
|
|
NM_152296.5(ATP1A3):c.2543-6T>A
|
rs1599705282
|
|
NM_152296.5(ATP1A3):c.2543-9T>C
|
rs2145946094
|
|
NM_152296.5(ATP1A3):c.2560G>A (p.Gly854Ser)
|
rs2075079968
|
|
NM_152296.5(ATP1A3):c.2562T>G (p.Gly854=)
|
rs2145946002
|
|
NM_152296.5(ATP1A3):c.2563_2565del (p.Gly855del)
|
rs2075079909
|
|
NM_152296.5(ATP1A3):c.2580T>C (p.Phe860=)
|
|
|
NM_152296.5(ATP1A3):c.2582T>C (p.Val861Ala)
|
|
|
NM_152296.5(ATP1A3):c.258C>T (p.Leu86=)
|
|
|
NM_152296.5(ATP1A3):c.2600G>A (p.Gly867Asp)
|
rs606231442
|
|
NM_152296.5(ATP1A3):c.2610C>G (p.Pro870=)
|
rs35272495
|
|
NM_152296.5(ATP1A3):c.2611G>A (p.Gly871Ser)
|
|
|
NM_152296.5(ATP1A3):c.2616C>G (p.Asn872Lys)
|
rs782057287
|
|
NM_152296.5(ATP1A3):c.261C>T (p.Phe87=)
|
|
|
NM_152296.5(ATP1A3):c.2629C>T (p.Arg877Trp)
|
|
|
NM_152296.5(ATP1A3):c.262G>A (p.Gly88Arg)
|
|
|
NM_152296.5(ATP1A3):c.2631dup (p.Leu878fs)
|
rs2145945887
|
|
NM_152296.5(ATP1A3):c.2647C>A (p.Arg883Ser)
|
|
|
NM_152296.5(ATP1A3):c.2647C>T (p.Arg883Cys)
|
rs1555859299
|
|
NM_152296.5(ATP1A3):c.2649C>T (p.Arg883=)
|
|
|
NM_152296.5(ATP1A3):c.264G>A (p.Gly88=)
|
rs782670995
|
|
NM_152296.5(ATP1A3):c.2652dup (p.Val885fs)
|
rs2145945849
|
|
NM_152296.5(ATP1A3):c.2664G>A (p.Leu888=)
|
|
|
NM_152296.5(ATP1A3):c.266G>C (p.Gly89Ala)
|
rs1599725621
|
|
NM_152296.5(ATP1A3):c.2673_2678del (p.Ser891_Gly893delinsArg)
|
rs2145945805
|
|
NM_152296.5(ATP1A3):c.2677G>A (p.Gly893Arg)
|
rs1568853466
|
|
NM_152296.5(ATP1A3):c.2677G>C (p.Gly893Arg)
|
rs1568853466
|
|
NM_152296.5(ATP1A3):c.2688+16T>G
|
|
|
NM_152296.5(ATP1A3):c.2688+17del
|
|
|
NM_152296.5(ATP1A3):c.2688+6T>C
|
rs2075078801
|
|
NM_152296.5(ATP1A3):c.2688+9G>A
|
|
|
NM_152296.5(ATP1A3):c.2689-10G>A
|
|
|
NM_152296.5(ATP1A3):c.2689-11C>G
|
rs782509039
|
|
NM_152296.5(ATP1A3):c.2689-11del
|
|
|
NM_152296.5(ATP1A3):c.2689-1G>T
|
rs2145944794
|
|
NM_152296.5(ATP1A3):c.2689-20C>T
|
|
|
NM_152296.5(ATP1A3):c.2689-4G>A
|
rs2145944806
|
|
NM_152296.5(ATP1A3):c.2691A>G (p.Thr897=)
|
|
|
NM_152296.5(ATP1A3):c.2691A>T (p.Thr897=)
|
|
|
NM_152296.5(ATP1A3):c.2707G>T (p.Val903Leu)
|
|
|
NM_152296.5(ATP1A3):c.270C>T (p.Phe90=)
|
rs782539594
|
|
NM_152296.5(ATP1A3):c.2718C>T (p.Phe906=)
|
|
|
NM_152296.5(ATP1A3):c.2723G>C (p.Cys908Ser)
|
rs2075072029
|
|
NM_152296.5(ATP1A3):c.2733CTT[1] (p.Phe913del)
|
|
|
NM_152296.5(ATP1A3):c.2746A>T (p.Ile916Phe)
|
|
|
NM_152296.5(ATP1A3):c.2752GTC[1] (p.Val919del)
|
rs606231443
|
|
NM_152296.5(ATP1A3):c.2754C>T (p.Val918=)
|
|
|
NM_152296.5(ATP1A3):c.2755G>A (p.Val919Ile)
|
|
|
NM_152296.5(ATP1A3):c.2757C>T (p.Val919=)
|
rs2145944643
|
|
NM_152296.5(ATP1A3):c.2759A>C (p.Gln920Pro)
|
|
|
NM_152296.5(ATP1A3):c.2763G>A (p.Trp921Ter)
|
rs1060500993
|
|
NM_152296.5(ATP1A3):c.2766C>T (p.Ala922=)
|
|
|
NM_152296.5(ATP1A3):c.2767G>A (p.Asp923Asn)
|
rs267606670
|
|
NM_152296.5(ATP1A3):c.2767G>C (p.Asp923His)
|
rs267606670
|
|
NM_152296.5(ATP1A3):c.2767G>T (p.Asp923Tyr)
|
rs267606670
|
|
NM_152296.5(ATP1A3):c.2768A>C (p.Asp923Ala)
|
rs2075071528
|
|
NM_152296.5(ATP1A3):c.2771T>C (p.Leu924Pro)
|
rs1555859157
|
|
NM_152296.5(ATP1A3):c.2773A>G (p.Ile925Val)
|
rs2145944590
|
|
NM_152296.5(ATP1A3):c.2777T>G (p.Ile926Ser)
|
rs2075071439
|
|
NM_152296.5(ATP1A3):c.2786C>T (p.Thr929Ile)
|
rs2075071279
|
|
NM_152296.5(ATP1A3):c.2788C>T (p.Arg930Trp)
|
rs1555859150
|
|
NM_152296.5(ATP1A3):c.2789G>A (p.Arg930Gln)
|
rs2145944562
|
|
NM_152296.5(ATP1A3):c.2790G>T (p.Arg930=)
|
|
|
NM_152296.5(ATP1A3):c.2796C>T (p.Asn932=)
|
|
|
NM_152296.5(ATP1A3):c.2798C>T (p.Ser933Leu)
|
rs2145944540
|
|
NM_152296.5(ATP1A3):c.2799G>A (p.Ser933=)
|
|
|
NM_152296.5(ATP1A3):c.2799G>C (p.Ser933=)
|
rs150417636
|
|
NM_152296.5(ATP1A3):c.2801T>C (p.Val934Ala)
|
rs2075071034
|
|
NM_152296.5(ATP1A3):c.2819+14G>A
|
|
|
NM_152296.5(ATP1A3):c.2819+17_2819+18del
|
|
|
NM_152296.5(ATP1A3):c.2819+7G>T
|
rs1599704395
|
|
NM_152296.5(ATP1A3):c.281T>C (p.Leu94Pro)
|
|
|
NM_152296.5(ATP1A3):c.2820-12C>T
|
rs2145942473
|
|
NM_152296.5(ATP1A3):c.2829C>A (p.Ile943=)
|
|
|
NM_152296.5(ATP1A3):c.2829C>G (p.Ile943Met)
|
rs1330371427
|
|
NM_152296.5(ATP1A3):c.2835C>A (p.Ile945=)
|
rs2075059472
|
|
NM_152296.5(ATP1A3):c.2839G>A (p.Gly947Arg)
|
rs398122887
|
|
NM_152296.5(ATP1A3):c.2839G>C (p.Gly947Arg)
|
rs398122887
|
|
NM_152296.5(ATP1A3):c.2839G>T (p.Gly947Trp)
|
rs398122887
|
|
NM_152296.5(ATP1A3):c.2841G>T (p.Gly947=)
|
|
|
NM_152296.5(ATP1A3):c.2845T>C (p.Phe949Leu)
|
rs2145942388
|
|
NM_152296.5(ATP1A3):c.2851G>A (p.Glu951Lys)
|
rs2145942372
|
|
NM_152296.5(ATP1A3):c.2855C>T (p.Thr952Met)
|
|
|
NM_152296.5(ATP1A3):c.2856G>C (p.Thr952=)
|
|
|
NM_152296.5(ATP1A3):c.2859C>A (p.Ala953=)
|
|
|
NM_152296.5(ATP1A3):c.2860C>T (p.Leu954=)
|
|
|
NM_152296.5(ATP1A3):c.2872C>T (p.Leu958=)
|
|
|
NM_152296.5(ATP1A3):c.2877C>T (p.Ser959=)
|
|
|
NM_152296.5(ATP1A3):c.2880C>T (p.Tyr960=)
|
rs534301907
|
|
NM_152296.5(ATP1A3):c.2896G>T (p.Val966Leu)
|
|
|
NM_152296.5(ATP1A3):c.2898G>A (p.Val966=)
|
rs1555858932
|
|
NM_152296.5(ATP1A3):c.2902del (p.Leu968fs)
|
|
|
NM_152296.5(ATP1A3):c.2906G>A (p.Arg969His)
|
rs1555858925
|
|
NM_152296.5(ATP1A3):c.2908A>C (p.Met970Leu)
|
|
|
NM_152296.5(ATP1A3):c.291G>A (p.Gly97=)
|
|
|
NM_152296.5(ATP1A3):c.2921+12G>A
|
|
|
NM_152296.5(ATP1A3):c.2921+13C>T
|
|
|
NM_152296.5(ATP1A3):c.2921+17C>G
|
|
|
NM_152296.5(ATP1A3):c.2921+18C>T
|
|
|
NM_152296.5(ATP1A3):c.2921+1G>C
|
rs2075058462
|
|
NM_152296.5(ATP1A3):c.2922-17T>G
|
|
|
NM_152296.5(ATP1A3):c.2922-3C>G
|
|
|
NM_152296.5(ATP1A3):c.2922-6C>G
|
rs1185127716
|
|
NM_152296.5(ATP1A3):c.2922-6C>T
|
rs1185127716
|
|
NM_152296.5(ATP1A3):c.2922-8C>A
|
rs1555858851
|
|
NM_152296.5(ATP1A3):c.2939G>T (p.Cys980Phe)
|
|
|
NM_152296.5(ATP1A3):c.2940T>A (p.Cys980Ter)
|
|
|
NM_152296.5(ATP1A3):c.2953_2973del (p.Ser985_Tyr991del)
|
|
|
NM_152296.5(ATP1A3):c.295A>G (p.Ile99Val)
|
rs958239123
|
|
NM_152296.5(ATP1A3):c.2962A>G (p.Ile988Val)
|
|
|
NM_152296.5(ATP1A3):c.2966_2996del (p.Phe989fs)
|
|
|
NM_152296.5(ATP1A3):c.2967C>T (p.Phe989=)
|
|
|
NM_152296.5(ATP1A3):c.2969T>C (p.Val990Ala)
|
rs2145941354
|
|
NM_152296.5(ATP1A3):c.2971_2976del (p.Tyr991_Asp992del)
|
rs2145941324
|
|
NM_152296.5(ATP1A3):c.2972A>T (p.Tyr991Phe)
|
|
|
NM_152296.5(ATP1A3):c.2974G>A (p.Asp992Asn)
|
rs606231447
|
|
NM_152296.5(ATP1A3):c.2974G>C (p.Asp992His)
|
rs606231447
|
|
NM_152296.5(ATP1A3):c.2977_2982dup (p.Ile994_Arg995insGluIle)
|
|
|
NM_152296.5(ATP1A3):c.2977_2994del (p.Glu993_Ile998del)
|
|
|
NM_152296.5(ATP1A3):c.2980A>G (p.Ile994Val)
|
|
|
NM_152296.5(ATP1A3):c.2983C>T (p.Arg995Cys)
|
|
|
NM_152296.5(ATP1A3):c.2994C>T (p.Ile998=)
|
rs1555858831
|
|
NM_152296.5(ATP1A3):c.2996T>C (p.Leu999Pro)
|
rs2145941265
|
|
NM_152296.5(ATP1A3):c.2998C>T (p.Arg1000Cys)
|
rs782778986
|
|
NM_152296.5(ATP1A3):c.3008C>T (p.Pro1003Leu)
|
rs2075053042
|
|
NM_152296.5(ATP1A3):c.3011G>C (p.Gly1004Ala)
|
rs782204932
|
|
NM_152296.5(ATP1A3):c.3013+13G>A
|
|
|
NM_152296.5(ATP1A3):c.3013+13G>C
|
|
|
NM_152296.5(ATP1A3):c.3013+17A>G
|
|
|
NM_152296.5(ATP1A3):c.3013+1G>A
|
rs2145941195
|
|
NM_152296.5(ATP1A3):c.3014-18C>T
|
|
|
NM_152296.5(ATP1A3):c.3019G>A (p.Val1007Met)
|
|
|
NM_152296.5(ATP1A3):c.3022G>A (p.Glu1008Lys)
|
|
|
NM_152296.5(ATP1A3):c.3024G>A (p.Glu1008=)
|
|
|
NM_152296.5(ATP1A3):c.3027G>A (p.Lys1009=)
|
|
|
NM_152296.5(ATP1A3):c.3027G>T (p.Lys1009Asn)
|
|
|
NM_152296.5(ATP1A3):c.3035ACT[3] (p.Tyr1013dup)
|
rs397515382
|
|
NM_152296.5(ATP1A3):c.324G>A (p.Gln108=)
|
|
|
NM_152296.5(ATP1A3):c.326C>T (p.Ala109Val)
|
rs1568866568
|
|
NM_152296.5(ATP1A3):c.336G>A (p.Glu112=)
|
|
|
NM_152296.5(ATP1A3):c.354C>T (p.Asp118=)
|
|
|
NM_152296.5(ATP1A3):c.357+13A>G
|
|
|
NM_152296.5(ATP1A3):c.357+14C>T
|
|
|
NM_152296.5(ATP1A3):c.357+16C>G
|
|
|
NM_152296.5(ATP1A3):c.357+19C>T
|
|
|
NM_152296.5(ATP1A3):c.357+7G>A
|
|
|
NM_152296.5(ATP1A3):c.357+9C>T
|
|
|
NM_152296.5(ATP1A3):c.358-12A>C
|
|
|
NM_152296.5(ATP1A3):c.358-13C>A
|
|
|
NM_152296.5(ATP1A3):c.358-13C>T
|
|
|
NM_152296.5(ATP1A3):c.358-17C>A
|
rs1555865438
|
|
NM_152296.5(ATP1A3):c.358-7C>G
|
rs1555865427
|
|
NM_152296.5(ATP1A3):c.36GAA[1] (p.Lys13del)
|
|
|
NM_152296.5(ATP1A3):c.372C>T (p.Ile124=)
|
|
|
NM_152296.5(ATP1A3):c.376_387del (p.Leu126_Val129del)
|
rs2145980132
|
|
NM_152296.5(ATP1A3):c.384C>T (p.Ala128=)
|
rs782662538
|
|
NM_152296.5(ATP1A3):c.385G>A (p.Val129Met)
|
rs1555865401
|
|
NM_152296.5(ATP1A3):c.388G>T (p.Val130Leu)
|
rs1555865397
|
|
NM_152296.5(ATP1A3):c.408C>T (p.Phe136=)
|
rs2145980107
|
|
NM_152296.5(ATP1A3):c.410C>A (p.Ser137Tyr)
|
rs542652468
|
|
NM_152296.5(ATP1A3):c.410C>T (p.Ser137Phe)
|
rs542652468
|
|
NM_152296.5(ATP1A3):c.410_412del (p.Ser137del)
|
rs1555865385
|
|
NM_152296.5(ATP1A3):c.42C>G (p.Asn14Lys)
|
|
|
NM_152296.5(ATP1A3):c.459C>T (p.Asn153=)
|
|
|
NM_152296.5(ATP1A3):c.46G>A (p.Gly16Ser)
|
rs559227917
|
|
NM_152296.5(ATP1A3):c.471+18A>C
|
|
|
NM_152296.5(ATP1A3):c.471+3G>A
|
|
|
NM_152296.5(ATP1A3):c.472-11T>C
|
|
|
NM_152296.5(ATP1A3):c.472-15T>G
|
|
|
NM_152296.5(ATP1A3):c.472-17A>C
|
|
|
NM_152296.5(ATP1A3):c.472-19T>A
|
|
|
NM_152296.5(ATP1A3):c.472-5C>T
|
|
|
NM_152296.5(ATP1A3):c.480G>C (p.Leu160=)
|
|
|
NM_152296.5(ATP1A3):c.480G>T (p.Leu160=)
|
rs1599723659
|
|
NM_152296.5(ATP1A3):c.488G>A (p.Arg163Gln)
|
|
|
NM_152296.5(ATP1A3):c.4G>C (p.Gly2Arg)
|
rs2145995411
|
|
NM_152296.5(ATP1A3):c.507G>A (p.Gln169=)
|
|
|
NM_152296.5(ATP1A3):c.531C>A (p.Val177=)
|
|
|
NM_152296.5(ATP1A3):c.54G>C (p.Glu18Asp)
|
rs541121307
|
|
NM_152296.5(ATP1A3):c.551A>G (p.Lys184Arg)
|
|
|
NM_152296.5(ATP1A3):c.55C>A (p.Arg19Ser)
|
|
|
NM_152296.5(ATP1A3):c.562C>T (p.Arg188Ter)
|
rs2075282510
|
|
NM_152296.5(ATP1A3):c.569C>T (p.Pro190Leu)
|
rs1599723609
|
|
NM_152296.5(ATP1A3):c.571G>T (p.Ala191Ser)
|
rs1568865274
|
|
NM_152296.5(ATP1A3):c.577C>T (p.Leu193=)
|
|
|
NM_152296.5(ATP1A3):c.58C>T (p.Arg20Trp)
|
|
|
NM_152296.5(ATP1A3):c.594C>T (p.Ala198=)
|
rs1555865244
|
|
NM_152296.5(ATP1A3):c.597C>A (p.His199Gln)
|
|
|
NM_152296.5(ATP1A3):c.6+14C>G
|
|
|
NM_152296.5(ATP1A3):c.6+7G>A
|
rs2145995390
|
|
NM_152296.5(ATP1A3):c.606+14T>C
|
rs2075281972
|
|
NM_152296.5(ATP1A3):c.607-10C>T
|
rs1250683183
|
|
NM_152296.5(ATP1A3):c.607-13C>A
|
|
|
NM_152296.5(ATP1A3):c.607-3C>T
|
rs886054475
|
|
NM_152296.5(ATP1A3):c.607-3del
|
rs781995257
|
|
NM_152296.5(ATP1A3):c.607-4C>G
|
rs2145978840
|
|
NM_152296.5(ATP1A3):c.612C>T (p.Asp204=)
|
rs2145978813
|
|
NM_152296.5(ATP1A3):c.633A>T (p.Glu211Asp)
|
|
|
NM_152296.5(ATP1A3):c.637G>A (p.Glu213Lys)
|
|
|
NM_152296.5(ATP1A3):c.64C>T (p.Leu22=)
|
|
|
NM_152296.5(ATP1A3):c.665_666delinsTG (p.Thr222Met)
|
rs2145978673
|
|
NM_152296.5(ATP1A3):c.666T>A (p.Thr222=)
|
rs2217342
|
|
NM_152296.5(ATP1A3):c.688C>T (p.Arg230Trp)
|
|
|
NM_152296.5(ATP1A3):c.6G>A (p.Gly2=)
|
|
|
NM_152296.5(ATP1A3):c.7-10_7-3del
|
|
|
NM_152296.5(ATP1A3):c.7-13C>T
|
|
|
NM_152296.5(ATP1A3):c.7-18C>G
|
rs782562097
|
|
NM_152296.5(ATP1A3):c.7-4G>A
|
rs375990668
|
|
NM_152296.5(ATP1A3):c.7-4G>C
|
|
|
NM_152296.5(ATP1A3):c.7-5C>T
|
|
|
NM_152296.5(ATP1A3):c.7-6T>A
|
|
|
NM_152296.5(ATP1A3):c.705T>G (p.Phe235Leu)
|
rs782230953
|
|
NM_152296.5(ATP1A3):c.709A>G (p.Thr237Ala)
|
|
|
NM_152296.5(ATP1A3):c.714C>T (p.Asn238=)
|
|
|
NM_152296.5(ATP1A3):c.719T>C (p.Val240Ala)
|
rs2075276205
|
|
NM_152296.5(ATP1A3):c.724+10G>A
|
|
|
NM_152296.5(ATP1A3):c.724+12G>A
|
|
|
NM_152296.5(ATP1A3):c.724+1G>T
|
rs2075276177
|
|
NM_152296.5(ATP1A3):c.724+7C>T
|
rs1213902675
|
|
NM_152296.5(ATP1A3):c.725-15C>T
|
|
|
NM_152296.5(ATP1A3):c.725-16C>T
|
|
|
NM_152296.5(ATP1A3):c.725-3C>T
|
|
|
NM_152296.5(ATP1A3):c.725-6C>T
|
rs782647558
|
|
NM_152296.5(ATP1A3):c.725-8G>C
|
|
|
NM_152296.5(ATP1A3):c.728C>T (p.Thr243Met)
|
rs2075274884
|
|
NM_152296.5(ATP1A3):c.753G>T (p.Thr251=)
|
|
|
NM_152296.5(ATP1A3):c.760C>T (p.Arg254Cys)
|
|
|
NM_152296.5(ATP1A3):c.761G>A (p.Arg254His)
|
rs1315342682
|
|
NM_152296.5(ATP1A3):c.762C>T (p.Arg254=)
|
|
|
NM_152296.5(ATP1A3):c.768C>T (p.Val256=)
|
rs1555864895
|
|
NM_152296.5(ATP1A3):c.775C>T (p.Arg259Cys)
|
rs2145978147
|
|
NM_152296.5(ATP1A3):c.793T>A (p.Ser265Thr)
|
|
|
NM_152296.5(ATP1A3):c.797G>T (p.Gly266Val)
|
|
|
NM_152296.5(ATP1A3):c.798G>A (p.Gly266=)
|
rs2145978100
|
|
NM_152296.5(ATP1A3):c.809G>A (p.Gly270Asp)
|
rs1555864875
|
|
NM_152296.5(ATP1A3):c.819C>A (p.Pro273=)
|
|
|
NM_152296.5(ATP1A3):c.819C>T (p.Pro273=)
|
|
|
NM_152296.5(ATP1A3):c.821T>C (p.Ile274Thr)
|
rs80356532
|
|
NM_152296.5(ATP1A3):c.828C>T (p.Ile276=)
|
|
|
NM_152296.5(ATP1A3):c.829G>A (p.Glu277Lys)
|
rs80356533
|
|
NM_152296.5(ATP1A3):c.834T>C (p.Ile278=)
|
rs2145977982
|
|
NM_152296.5(ATP1A3):c.838C>T (p.His280Tyr)
|
rs2075273663
|
|
NM_152296.5(ATP1A3):c.841T>G (p.Phe281Val)
|
rs2145977959
|
|
NM_152296.5(ATP1A3):c.859G>A (p.Gly287Ser)
|
|
|
NM_152296.5(ATP1A3):c.859G>T (p.Gly287Cys)
|
|
|
NM_152296.5(ATP1A3):c.862G>A (p.Val288Met)
|
|
|
NM_152296.5(ATP1A3):c.882C>G (p.Val294=)
|
rs1555864832
|
|
NM_152296.5(ATP1A3):c.886TTC[1] (p.Phe297del)
|
rs1555864827
|
|
NM_152296.5(ATP1A3):c.893T>C (p.Ile298Thr)
|
rs2075272973
|
|
NM_152296.5(ATP1A3):c.8A>G (p.Asp3Gly)
|
|
|
NM_152296.5(ATP1A3):c.902T>G (p.Leu301Arg)
|
|
|
NM_152296.5(ATP1A3):c.909C>G (p.Leu303=)
|
rs782266448
|
|
NM_152296.5(ATP1A3):c.909C>T (p.Leu303=)
|
rs782266448
|
|
NM_152296.5(ATP1A3):c.910G>A (p.Gly304Arg)
|
rs1032312899
|
|
NM_152296.5(ATP1A3):c.918C>G (p.Thr306=)
|
rs1555864811
|
|
NM_152296.5(ATP1A3):c.927G>A (p.Glu309=)
|
|
|
NM_152296.5(ATP1A3):c.92T>C (p.Met31Thr)
|
|
|
NM_152296.5(ATP1A3):c.93+12_93+15dup
|
|
|
NM_152296.5(ATP1A3):c.93+20C>T
|
|
|
NM_152296.5(ATP1A3):c.93+4A>G
|
rs782545260
|
|
NM_152296.5(ATP1A3):c.94-19C>A
|
|
|
NM_152296.5(ATP1A3):c.94-5C>T
|
rs1599726017
|
|
NM_152296.5(ATP1A3):c.942C>T (p.Leu314=)
|
rs143797324
|
|
NM_152296.5(ATP1A3):c.946G>A (p.Gly316Ser)
|
rs869320661
|
|
NM_152296.5(ATP1A3):c.954C>A (p.Ile318=)
|
rs529241207
|
|
NM_152296.5(ATP1A3):c.954C>G (p.Ile318Met)
|
rs529241207
|
|
NM_152296.5(ATP1A3):c.954C>T (p.Ile318=)
|
|
|
NM_152296.5(ATP1A3):c.958G>C (p.Ala320Pro)
|
rs879255368
|
|
NM_152296.5(ATP1A3):c.962A>G (p.Asn321Ser)
|
|
|
NM_152296.5(ATP1A3):c.962A>T (p.Asn321Ile)
|
rs1176093601
|
|
NM_152296.5(ATP1A3):c.967C>T (p.Pro323Ser)
|
rs864309572
|
|
NM_152296.5(ATP1A3):c.968C>T (p.Pro323Leu)
|
rs1085307933
|
|
NM_152296.5(ATP1A3):c.973G>C (p.Gly325Arg)
|
rs2145977694
|
|
NM_152296.5(ATP1A3):c.977T>C (p.Leu326Pro)
|
|
|
NM_152296.5(ATP1A3):c.977T>G (p.Leu326Arg)
|
rs1131691307
|
|
NM_152296.5(ATP1A3):c.990C>T (p.Val330=)
|
rs2145977662
|
|
NM_152296.5(ATP1A3):c.992C>T (p.Thr331Ile)
|
rs2075272037
|
|
NM_152296.5(ATP1A3):c.993+11G>C
|
|
|
NM_152296.5(ATP1A3):c.993+8C>G
|
|
|
NM_152296.5(ATP1A3):c.994-16C>A
|
|
|
NM_152296.5(ATP1A3):c.994-1G>A
|
|
|
NM_171998.4(RAB39B):c.503C>A (p.Thr168Lys)
|
rs587777874
|
|
NM_171998.4(RAB39B):c.574G>A (p.Gly192Arg)
|
rs864309527
|
|
NM_178000.3(PTPA):c.407C>A (p.Ala136Asp)
|
|
|
NM_178000.3(PTPA):c.788T>G (p.Met263Arg)
|
|
|
NM_198241.3(EIF4G1):c.1570A>G (p.Lys524Glu)
|
|
|
NM_198241.3(EIF4G1):c.3188C>T (p.Pro1063Leu)
|
|
|
NM_198241.3(EIF4G1):c.536C>T (p.Thr179Met)
|
rs981309467
|
|
NM_198241.3(EIF4G1):c.956C>G (p.Pro319Arg)
|
|
|
NM_198578.4(LRRK2):c.*1042A>G
|
rs1356131541
|
|
NM_198578.4(LRRK2):c.*1140A>T
|
rs886049367
|
|
NM_198578.4(LRRK2):c.*1165C>T
|
rs200135922
|
|
NM_198578.4(LRRK2):c.*1182C>T
|
rs376228552
|
|
NM_198578.4(LRRK2):c.*1279T>C
|
rs886049369
|
|
NM_198578.4(LRRK2):c.*131del
|
rs572544182
|
|
NM_198578.4(LRRK2):c.*1429C>G
|
rs142051987
|
|
NM_198578.4(LRRK2):c.*148T>C
|
rs202205832
|
|
NM_198578.4(LRRK2):c.*223C>T
|
rs886049364
|
|
NM_198578.4(LRRK2):c.*277A>G
|
rs1946931443
|
|
NM_198578.4(LRRK2):c.*751C>A
|
rs199692050
|
|
NM_198578.4(LRRK2):c.*908A>C
|
rs1946946858
|
|
NM_198578.4(LRRK2):c.*934_*936dup
|
rs367772598
|
|
NM_198578.4(LRRK2):c.*935_*936dup
|
rs367772598
|
|
NM_198578.4(LRRK2):c.*936del
|
rs367772598
|
|
NM_198578.4(LRRK2):c.*936dup
|
rs367772598
|
|
NM_198578.4(LRRK2):c.*942T>C
|
rs182229935
|
|
NM_198578.4(LRRK2):c.-91C>T
|
rs957511525
|
|
NM_198578.4(LRRK2):c.1015G>C (p.Asp339His)
|
rs2136478027
|
|
NM_198578.4(LRRK2):c.1030G>A (p.Glu344Lys)
|
rs1942259532
|
|
NM_198578.4(LRRK2):c.1044T>C (p.Phe348=)
|
|
|
NM_198578.4(LRRK2):c.1078C>T (p.His360Tyr)
|
|
|
NM_198578.4(LRRK2):c.1088A>G (p.Asn363Ser)
|
rs72546336
|
|
NM_198578.4(LRRK2):c.1093C>A (p.His365Asn)
|
rs765509204
|
|
NM_198578.4(LRRK2):c.1095C>T (p.His365=)
|
|
|
NM_198578.4(LRRK2):c.1101+3A>G
|
|
|
NM_198578.4(LRRK2):c.1102-15del
|
|
|
NM_198578.4(LRRK2):c.1135A>G (p.Met379Val)
|
|
|
NM_198578.4(LRRK2):c.114C>A (p.Ile38=)
|
rs1592124610
|
|
NM_198578.4(LRRK2):c.1181A>T (p.His394Leu)
|
|
|
NM_198578.4(LRRK2):c.1207C>G (p.Leu403Val)
|
|
|
NM_198578.4(LRRK2):c.1211C>T (p.Ser404Phe)
|
rs1942343374
|
|
NM_198578.4(LRRK2):c.1240G>A (p.Val414Ile)
|
rs1565682626
|
|
NM_198578.4(LRRK2):c.1260T>C (p.Asn420=)
|
rs1942345799
|
|
NM_198578.4(LRRK2):c.1288+12G>A
|
|
|
NM_198578.4(LRRK2):c.1288+17G>A
|
|
|
NM_198578.4(LRRK2):c.1288+9T>A
|
rs2136486183
|
|
NM_198578.4(LRRK2):c.1288G>A (p.Val430Ile)
|
rs878853305
|
|
NM_198578.4(LRRK2):c.1289-13T>A
|
|
|
NM_198578.4(LRRK2):c.1289-3C>T
|
|
|
NM_198578.4(LRRK2):c.1289T>C (p.Val430Ala)
|
|
|
NM_198578.4(LRRK2):c.1299A>G (p.Arg433=)
|
rs2136507752
|
|
NM_198578.4(LRRK2):c.1306C>T (p.Leu436=)
|
|
|
NM_198578.4(LRRK2):c.1339G>A (p.Glu447Lys)
|
|
|
NM_198578.4(LRRK2):c.1352A>G (p.Lys451Arg)
|
rs1592172389
|
|
NM_198578.4(LRRK2):c.1356T>G (p.His452Gln)
|
|
|
NM_198578.4(LRRK2):c.1361A>G (p.His454Arg)
|
|
|
NM_198578.4(LRRK2):c.1363T>C (p.Ser455Pro)
|
|
|
NM_198578.4(LRRK2):c.1373T>C (p.Val458Ala)
|
|
|
NM_198578.4(LRRK2):c.1379_1388del (p.Glu460fs)
|
rs1429161625
|
|
NM_198578.4(LRRK2):c.1382G>T (p.Ser461Ile)
|
rs372415323
|
|
NM_198578.4(LRRK2):c.1404T>C (p.His468=)
|
rs745971400
|
|
NM_198578.4(LRRK2):c.1409T>C (p.Phe470Ser)
|
|
|
NM_198578.4(LRRK2):c.1450G>T (p.Val484Phe)
|
|
|
NM_198578.4(LRRK2):c.1453C>T (p.Pro485Ser)
|
|
|
NM_198578.4(LRRK2):c.1470T>C (p.Val490=)
|
|
|
NM_198578.4(LRRK2):c.1493T>C (p.Leu498Ser)
|
|
|
NM_198578.4(LRRK2):c.1497A>C (p.Pro499=)
|
|
|
NM_198578.4(LRRK2):c.1503G>C (p.Gln501His)
|
|
|
NM_198578.4(LRRK2):c.151+19A>G
|
rs2136364549
|
|
NM_198578.4(LRRK2):c.151+20C>T
|
|
|
NM_198578.4(LRRK2):c.1512G>A (p.Ala504=)
|
|
|
NM_198578.4(LRRK2):c.1566G>A (p.Glu522=)
|
|
|
NM_198578.4(LRRK2):c.1568A>T (p.Asp523Val)
|
|
|
NM_198578.4(LRRK2):c.1607A>T (p.Gln536Leu)
|
|
|
NM_198578.4(LRRK2):c.1616A>G (p.Lys539Arg)
|
|
|
NM_198578.4(LRRK2):c.1655G>A (p.Arg552Lys)
|
rs1942888332
|
|
NM_198578.4(LRRK2):c.1656+12A>G
|
|
|
NM_198578.4(LRRK2):c.1657-20G>A
|
|
|
NM_198578.4(LRRK2):c.1674= (p.Gly558=)
|
rs77424631
|
|
NM_198578.4(LRRK2):c.1721del (p.Pro574fs)
|
rs1943372260
|
|
NM_198578.4(LRRK2):c.1735A>G (p.Met579Val)
|
rs1272594530
|
|
NM_198578.4(LRRK2):c.1787A>G (p.Tyr596Cys)
|
rs2136605311
|
|
NM_198578.4(LRRK2):c.17G>C (p.Cys6Ser)
|
|
|
NM_198578.4(LRRK2):c.1802-11del
|
rs200529791
|
|
NM_198578.4(LRRK2):c.1802-11dup
|
rs200529791
|
|
NM_198578.4(LRRK2):c.181_198del (p.His61_Ile66del)
|
|
|
NM_198578.4(LRRK2):c.1845A>T (p.Thr615=)
|
|
|
NM_198578.4(LRRK2):c.1851G>A (p.Lys617=)
|
|
|
NM_198578.4(LRRK2):c.1865G>C (p.Gly622Ala)
|
rs1592203496
|
|
NM_198578.4(LRRK2):c.186G>A (p.Val62=)
|
|
|
NM_198578.4(LRRK2):c.1870G>A (p.Gly624Arg)
|
|
|
NM_198578.4(LRRK2):c.1902C>T (p.Ser634=)
|
|
|
NM_198578.4(LRRK2):c.1937_1940del (p.Thr646fs)
|
rs775290585
|
|
NM_198578.4(LRRK2):c.1941+15T>C
|
|
|
NM_198578.4(LRRK2):c.1941+5G>A
|
|
|
NM_198578.4(LRRK2):c.1970A>T (p.Lys657Ile)
|
|
|
NM_198578.4(LRRK2):c.1975T>A (p.Ser659Thr)
|
rs2136624204
|
|
NM_198578.4(LRRK2):c.1980A>G (p.Ala660=)
|
rs1014317397
|
|
NM_198578.4(LRRK2):c.1993C>T (p.Leu665=)
|
|
|
NM_198578.4(LRRK2):c.201C>T (p.Val67=)
|
rs2136366558
|
|
NM_198578.4(LRRK2):c.2029C>T (p.His677Tyr)
|
|
|
NM_198578.4(LRRK2):c.2050A>G (p.Met684Val)
|
rs1943532621
|
|
NM_198578.4(LRRK2):c.2070+3A>C
|
|
|
NM_198578.4(LRRK2):c.2070+4C>T
|
|
|
NM_198578.4(LRRK2):c.2079C>T (p.Asn693=)
|
|
|
NM_198578.4(LRRK2):c.2097T>C (p.Phe699=)
|
|
|
NM_198578.4(LRRK2):c.2121C>T (p.Tyr707=)
|
|
|
NM_198578.4(LRRK2):c.2127A>C (p.Lys709Asn)
|
|
|
NM_198578.4(LRRK2):c.2134A>G (p.Met712Val)
|
rs199566791
|
|
NM_198578.4(LRRK2):c.213T>A (p.Tyr71Ter)
|
|
|
NM_198578.4(LRRK2):c.2144G>C (p.Arg715Thr)
|
|
|
NM_198578.4(LRRK2):c.2147C>T (p.Ala716Val)
|
rs281865043
|
|
NM_198578.4(LRRK2):c.2148G>A (p.Ala716=)
|
|
|
NM_198578.4(LRRK2):c.214A>G (p.Met72Val)
|
|
|
NM_198578.4(LRRK2):c.2162A>G (p.Asn721Ser)
|
|
|
NM_198578.4(LRRK2):c.2165G>A (p.Ser722Asn)
|
|
|
NM_198578.4(LRRK2):c.2166_2167delinsAG (p.Ser722_Ile723delinsArgVal)
|
|
|
NM_198578.4(LRRK2):c.2174T>C (p.Val725Ala)
|
|
|
NM_198578.4(LRRK2):c.21G>T (p.Gln7His)
|
|
|
NM_198578.4(LRRK2):c.2234T>C (p.Ile745Thr)
|
rs2136626522
|
|
NM_198578.4(LRRK2):c.2241+1G>A
|
|
|
NM_198578.4(LRRK2):c.2262T>A (p.Ser754Arg)
|
|
|
NM_198578.4(LRRK2):c.2269T>C (p.Leu757=)
|
|
|
NM_198578.4(LRRK2):c.2271G>A (p.Leu757=)
|
|
|
NM_198578.4(LRRK2):c.2282T>C (p.Leu761Ser)
|
rs1276618177
|
|
NM_198578.4(LRRK2):c.2284C>G (p.Leu762Val)
|
|
|
NM_198578.4(LRRK2):c.228T>C (p.Ser76=)
|
rs1940834579
|
|
NM_198578.4(LRRK2):c.2292T>C (p.Ser764=)
|
|
|
NM_198578.4(LRRK2):c.22G>A (p.Gly8Arg)
|
|
|
NM_198578.4(LRRK2):c.2356A>T (p.Ile786Phe)
|
|
|
NM_198578.4(LRRK2):c.2357T>C (p.Ile786Thr)
|
rs1592220766
|
|
NM_198578.4(LRRK2):c.2373A>G (p.Leu791=)
|
|
|
NM_198578.4(LRRK2):c.2385C>T (p.Ala795=)
|
|
|
NM_198578.4(LRRK2):c.2405G>A (p.Ser802Asn)
|
|
|
NM_198578.4(LRRK2):c.2428A>G (p.Ile810Val)
|
rs72546337
|
|
NM_198578.4(LRRK2):c.2500+5_2500+8del
|
rs753165266
|
|
NM_198578.4(LRRK2):c.2500+6T>C
|
rs1943818293
|
|
NM_198578.4(LRRK2):c.2500+9C>T
|
|
|
NM_198578.4(LRRK2):c.2501-13C>T
|
rs2136674340
|
|
NM_198578.4(LRRK2):c.2501-9dup
|
rs36220740
|
|
NM_198578.4(LRRK2):c.2513C>A (p.Thr838Lys)
|
rs1943969628
|
|
NM_198578.4(LRRK2):c.2517A>G (p.Leu839=)
|
rs1592226567
|
|
NM_198578.4(LRRK2):c.2519C>T (p.Ala840Val)
|
|
|
NM_198578.4(LRRK2):c.2543T>G (p.Met848Arg)
|
|
|
NM_198578.4(LRRK2):c.2553T>C (p.Ala851=)
|
|
|
NM_198578.4(LRRK2):c.255G>A (p.Leu85=)
|
|
|
NM_198578.4(LRRK2):c.2571C>T (p.Ala857=)
|
|
|
NM_198578.4(LRRK2):c.2577C>A (p.Gly859=)
|
|
|
NM_198578.4(LRRK2):c.2583T>C (p.Asp861=)
|
|
|
NM_198578.4(LRRK2):c.2588A>G (p.Asn863Ser)
|
rs555679009
|
|
NM_198578.4(LRRK2):c.2600A>T (p.Asp867Val)
|
|
|
NM_198578.4(LRRK2):c.2653A>G (p.Ser885Gly)
|
rs1458719728
|
|
NM_198578.4(LRRK2):c.2689+12A>G
|
rs200290369
|
|
NM_198578.4(LRRK2):c.2689+12A>T
|
rs200290369
|
|
NM_198578.4(LRRK2):c.2689+19_2689+20del
|
|
|
NM_198578.4(LRRK2):c.2689+19_2689+20dup
|
rs66810434
|
|
NM_198578.4(LRRK2):c.2689+20A>C
|
|
|
NM_198578.4(LRRK2):c.2689+20del
|
|
|
NM_198578.4(LRRK2):c.2689+20dup
|
rs66810434
|
|
NM_198578.4(LRRK2):c.2693G>A (p.Ser898Asn)
|
|
|
NM_198578.4(LRRK2):c.2698G>A (p.Gly900Ser)
|
|
|
NM_198578.4(LRRK2):c.2699G>C (p.Gly900Ala)
|
rs2136706126
|
|
NM_198578.4(LRRK2):c.269_280del (p.Glu90_Pro93del)
|
rs2136395885
|
|
NM_198578.4(LRRK2):c.2701_2702delinsCT (p.Ser901Leu)
|
rs1555184069
|
|
NM_198578.4(LRRK2):c.2731A>G (p.Ile911Val)
|
|
|
NM_198578.4(LRRK2):c.2760C>T (p.Ala920=)
|
|
|
NM_198578.4(LRRK2):c.2774G>A (p.Cys925Tyr)
|
|
|
NM_198578.4(LRRK2):c.2777C>T (p.Ser926Leu)
|
|
|
NM_198578.4(LRRK2):c.2778A>G (p.Ser926=)
|
rs937911118
|
|
NM_198578.4(LRRK2):c.2789A>G (p.Gln930Arg)
|
rs281865045
|
|
NM_198578.4(LRRK2):c.2811G>A (p.Gly937=)
|
|
|
NM_198578.4(LRRK2):c.2821G>T (p.Asp941Tyr)
|
rs943421158
|
|
NM_198578.4(LRRK2):c.2842C>G (p.Arg948Gly)
|
|
|
NM_198578.4(LRRK2):c.2873C>T (p.Ser958Leu)
|
|
|
NM_198578.4(LRRK2):c.2874A>T (p.Ser958=)
|
rs2136715656
|
|
NM_198578.4(LRRK2):c.2875C>G (p.Leu959Val)
|
|
|
NM_198578.4(LRRK2):c.2879-1G>C
|
|
|
NM_198578.4(LRRK2):c.2879-9del
|
rs766368406
|
|
NM_198578.4(LRRK2):c.2880G>A (p.Arg960=)
|
rs199847386
|
|
NM_198578.4(LRRK2):c.28G>A (p.Glu10Lys)
|
rs281865040
|
|
NM_198578.4(LRRK2):c.2900A>T (p.His967Leu)
|
|
|
NM_198578.4(LRRK2):c.2918G>A (p.Ser973Asn)
|
rs75148313
|
|
NM_198578.4(LRRK2):c.2948A>G (p.Tyr983Cys)
|
|
|
NM_198578.4(LRRK2):c.3014G>A (p.Cys1005Tyr)
|
|
|
NM_198578.4(LRRK2):c.3016A>G (p.Ile1006Val)
|
|
|
NM_198578.4(LRRK2):c.3071C>T (p.Thr1024Met)
|
rs568157731
|
|
NM_198578.4(LRRK2):c.3138A>T (p.Lys1046Asn)
|
|
|
NM_198578.4(LRRK2):c.3156T>A (p.Ser1052=)
|
|
|
NM_198578.4(LRRK2):c.3184A>G (p.Asn1062Asp)
|
rs201935017
|
|
NM_198578.4(LRRK2):c.3187C>T (p.Leu1063Phe)
|
rs878853306
|
|
NM_198578.4(LRRK2):c.3244T>C (p.Cys1082Arg)
|
|
|
NM_198578.4(LRRK2):c.3268C>A (p.Leu1090Met)
|
|
|
NM_198578.4(LRRK2):c.3275A>G (p.Tyr1092Cys)
|
|
|
NM_198578.4(LRRK2):c.3316G>C (p.Val1106Leu)
|
|
|
NM_198578.4(LRRK2):c.3347+6A>T
|
rs201853545
|
|
NM_198578.4(LRRK2):c.3348-20A>T
|
rs1459763604
|
|
NM_198578.4(LRRK2):c.3364A>G (p.Ile1122Val)
|
rs34805604
|
|
NM_198578.4(LRRK2):c.3368G>T (p.Cys1123Phe)
|
rs2136749679
|
|
NM_198578.4(LRRK2):c.3371C>T (p.Ser1124Phe)
|
|
|
NM_198578.4(LRRK2):c.3391C>A (p.Leu1131Met)
|
rs1236580747
|
|
NM_198578.4(LRRK2):c.3432A>G (p.Leu1144=)
|
rs201121016
|
|
NM_198578.4(LRRK2):c.3435A>C (p.Ser1145=)
|
rs886049359
|
|
NM_198578.4(LRRK2):c.3443T>C (p.Phe1148Ser)
|
rs774993871
|
|
NM_198578.4(LRRK2):c.347+13G>A
|
|
|
NM_198578.4(LRRK2):c.347+16A>G
|
|
|
NM_198578.4(LRRK2):c.347+20A>G
|
|
|
NM_198578.4(LRRK2):c.3490T>G (p.Phe1164Val)
|
|
|
NM_198578.4(LRRK2):c.3494T>C (p.Leu1165Pro)
|
rs281865046
|
|
NM_198578.4(LRRK2):c.3496+18G>A
|
|
|
NM_198578.4(LRRK2):c.3497-8del
|
rs201739149
|
|
NM_198578.4(LRRK2):c.3497-8dup
|
rs201739149
|
|
NM_198578.4(LRRK2):c.350T>G (p.Leu117Trp)
|
rs1941415538
|
|
NM_198578.4(LRRK2):c.3568G>A (p.Glu1190Lys)
|
|
|
NM_198578.4(LRRK2):c.3589C>T (p.His1197Tyr)
|
|
|
NM_198578.4(LRRK2):c.3590A>G (p.His1197Arg)
|
|
|
NM_198578.4(LRRK2):c.3591-14G>C
|
|
|
NM_198578.4(LRRK2):c.3595C>A (p.Arg1199=)
|
rs746433333
|
|
NM_198578.4(LRRK2):c.3596G>A (p.Arg1199Gln)
|
|
|
NM_198578.4(LRRK2):c.3615C>G (p.Ser1205Arg)
|
rs1944717503
|
|
NM_198578.4(LRRK2):c.3647A>G (p.His1216Arg)
|
rs72546324
|
|
NM_198578.4(LRRK2):c.3678A>C (p.Leu1226Phe)
|
rs746701556
|
|
NM_198578.4(LRRK2):c.3683G>T (p.Ser1228Ile)
|
rs60185966
|
|
NM_198578.4(LRRK2):c.3686A>G (p.His1229Arg)
|
|
|
NM_198578.4(LRRK2):c.368C>G (p.Thr123Arg)
|
rs1182341950
|
|
NM_198578.4(LRRK2):c.368C>T (p.Thr123Ile)
|
rs1182341950
|
|
NM_198578.4(LRRK2):c.3701T>C (p.Ile1234Thr)
|
|
|
NM_198578.4(LRRK2):c.3737G>A (p.Arg1246Lys)
|
|
|
NM_198578.4(LRRK2):c.3777+13T>C
|
|
|
NM_198578.4(LRRK2):c.3777+9A>G
|
|
|
NM_198578.4(LRRK2):c.3778-10dup
|
|
|
NM_198578.4(LRRK2):c.3778-6A>T
|
|
|
NM_198578.4(LRRK2):c.3782C>T (p.Pro1261Leu)
|
|
|
NM_198578.4(LRRK2):c.3800T>C (p.Leu1267Pro)
|
|
|
NM_198578.4(LRRK2):c.3812C>T (p.Thr1271Ile)
|
rs2136793898
|
|
NM_198578.4(LRRK2):c.3823G>A (p.Val1275Ile)
|
rs2136794000
|
|
NM_198578.4(LRRK2):c.3870A>G (p.Lys1290=)
|
|
|
NM_198578.4(LRRK2):c.388A>C (p.Asn130His)
|
|
|
NM_198578.4(LRRK2):c.3892C>G (p.Pro1298Ala)
|
|
|
NM_198578.4(LRRK2):c.3901G>A (p.Glu1301Lys)
|
rs1944805160
|
|
NM_198578.4(LRRK2):c.3906G>A (p.Leu1302=)
|
rs144488089
|
|
NM_198578.4(LRRK2):c.3906G>T (p.Leu1302=)
|
|
|
NM_198578.4(LRRK2):c.3936A>T (p.Gly1312=)
|
|
|
NM_198578.4(LRRK2):c.3943G>T (p.Ala1315Ser)
|
|
|
NM_198578.4(LRRK2):c.3959+9A>T
|
|
|
NM_198578.4(LRRK2):c.3973C>A (p.Arg1325=)
|
|
|
NM_198578.4(LRRK2):c.3999C>A (p.Asn1333Lys)
|
rs2136814191
|
|
NM_198578.4(LRRK2):c.4001G>A (p.Arg1334Gln)
|
|
|
NM_198578.4(LRRK2):c.4037del (p.Gly1346fs)
|
rs1565737297
|
|
NM_198578.4(LRRK2):c.4046C>T (p.Thr1349Ile)
|
rs1042592521
|
|
NM_198578.4(LRRK2):c.4057C>A (p.Gln1353Lys)
|
|
|
NM_198578.4(LRRK2):c.4099G>T (p.Ala1367Ser)
|
|
|
NM_198578.4(LRRK2):c.4101C>T (p.Ala1367=)
|
rs2136815209
|
|
NM_198578.4(LRRK2):c.4125C>A (p.Asp1375Glu)
|
rs28365226
|
|
NM_198578.4(LRRK2):c.4132A>G (p.Ile1378Val)
|
rs1447241100
|
|
NM_198578.4(LRRK2):c.4167C>T (p.Val1389=)
|
|
|
NM_198578.4(LRRK2):c.4174G>A (p.Val1392Met)
|
|
|
NM_198578.4(LRRK2):c.4188A>G (p.Ala1396=)
|
|
|
NM_198578.4(LRRK2):c.4193G>A (p.Arg1398His)
|
rs7133914
|
|
NM_198578.4(LRRK2):c.4193G>T (p.Arg1398Leu)
|
|
|
NM_198578.4(LRRK2):c.4200A>G (p.Glu1400=)
|
|
|
NM_198578.4(LRRK2):c.4203C>T (p.Phe1401=)
|
rs2136818823
|
|
NM_198578.4(LRRK2):c.4230G>A (p.Thr1410=)
|
|
|
NM_198578.4(LRRK2):c.4238C>A (p.Ala1413Glu)
|
|
|
NM_198578.4(LRRK2):c.4258G>A (p.Asp1420Asn)
|
rs113589830
|
|
NM_198578.4(LRRK2):c.4289C>T (p.Ala1430Val)
|
|
|
NM_198578.4(LRRK2):c.4306T>C (p.Phe1436Leu)
|
rs1009030976
|
|
NM_198578.4(LRRK2):c.4309A>C (p.Asn1437His)
|
rs74163686
|
|
NM_198578.4(LRRK2):c.4314A>G (p.Ile1438Met)
|
rs878853307
|
|
NM_198578.4(LRRK2):c.4317+4A>T
|
|
|
NM_198578.4(LRRK2):c.4321C>A (p.Arg1441Ser)
|
rs33939927
|
|
NM_198578.4(LRRK2):c.4321C>G (p.Arg1441Gly)
|
rs33939927
|
|
NM_198578.4(LRRK2):c.4322G>C (p.Arg1441Pro)
|
|
|
NM_198578.4(LRRK2):c.4324G>C (p.Ala1442Pro)
|
rs281865048
|
|
NM_198578.4(LRRK2):c.4328C>T (p.Ser1443Phe)
|
|
|
NM_198578.4(LRRK2):c.4347C>T (p.Leu1449=)
|
|
|
NM_198578.4(LRRK2):c.4358A>G (p.His1453Arg)
|
rs878853308
|
|
NM_198578.4(LRRK2):c.4364_4365del (p.Asp1455fs)
|
rs281865049
|
|
NM_198578.4(LRRK2):c.4373A>C (p.Asp1458Ala)
|
|
|
NM_198578.4(LRRK2):c.4383A>G (p.Gln1461=)
|
|
|
NM_198578.4(LRRK2):c.438T>C (p.Gly146=)
|
|
|
NM_198578.4(LRRK2):c.4402A>G (p.Lys1468Glu)
|
rs281865050
|
|
NM_198578.4(LRRK2):c.4417C>T (p.Leu1473Phe)
|
rs1555187766
|
|
NM_198578.4(LRRK2):c.4441G>A (p.Ala1481Thr)
|
rs878853309
|
|
NM_198578.4(LRRK2):c.4447C>A (p.Arg1483=)
|
rs114908017
|
|
NM_198578.4(LRRK2):c.4453T>G (p.Tyr1485Asp)
|
rs199626271
|
|
NM_198578.4(LRRK2):c.4468G>A (p.Ala1490Thr)
|
rs201154630
|
|
NM_198578.4(LRRK2):c.446C>G (p.Thr149Ser)
|
|
|
NM_198578.4(LRRK2):c.4519G>A (p.Glu1507Lys)
|
|
|
NM_198578.4(LRRK2):c.4536+20G>A
|
rs1174977133
|
|
NM_198578.4(LRRK2):c.4537-17C>A
|
|
|
NM_198578.4(LRRK2):c.4548G>A (p.Gln1516=)
|
|
|
NM_198578.4(LRRK2):c.4555G>T (p.Val1519Phe)
|
|
|
NM_198578.4(LRRK2):c.4607C>T (p.Ser1536Leu)
|
|
|
NM_198578.4(LRRK2):c.4613G>A (p.Arg1538His)
|
|
|
NM_198578.4(LRRK2):c.4613G>T (p.Arg1538Leu)
|
|
|
NM_198578.4(LRRK2):c.4615A>G (p.Lys1539Glu)
|
|
|
NM_198578.4(LRRK2):c.4617A>T (p.Lys1539Asn)
|
rs1945124851
|
|
NM_198578.4(LRRK2):c.4638C>T (p.Pro1546=)
|
|
|
NM_198578.4(LRRK2):c.4648C>T (p.Arg1550Trp)
|
|
|
NM_198578.4(LRRK2):c.4666C>A (p.Leu1556Ile)
|
rs17491187
|
|
NM_198578.4(LRRK2):c.4669G>A (p.Val1557Met)
|
|
|
NM_198578.4(LRRK2):c.4696G>A (p.Glu1566Lys)
|
|
|
NM_198578.4(LRRK2):c.4713C>T (p.His1571=)
|
|
|
NM_198578.4(LRRK2):c.4722C>A (p.His1574Gln)
|
|
|
NM_198578.4(LRRK2):c.4738+3_4738+6del
|
rs2136849213
|
|
NM_198578.4(LRRK2):c.4739-4A>G
|
|
|
NM_198578.4(LRRK2):c.4739-5T>C
|
|
|
NM_198578.4(LRRK2):c.4777A>G (p.Ser1593Gly)
|
|
|
NM_198578.4(LRRK2):c.4792G>A (p.Val1598Met)
|
|
|
NM_198578.4(LRRK2):c.4793T>A (p.Val1598Glu)
|
rs721710
|
|
NM_198578.4(LRRK2):c.4802A>G (p.Lys1601Arg)
|
|
|
NM_198578.4(LRRK2):c.4821G>A (p.Met1607Ile)
|
rs1565744159
|
|
NM_198578.4(LRRK2):c.4827+5G>T
|
|
|
NM_198578.4(LRRK2):c.4827+9C>T
|
|
|
NM_198578.4(LRRK2):c.4828-17T>C
|
|
|
NM_198578.4(LRRK2):c.4831T>C (p.Leu1611=)
|
rs2136879452
|
|
NM_198578.4(LRRK2):c.4838T>C (p.Val1613Ala)
|
rs281865051
|
|
NM_198578.4(LRRK2):c.483G>A (p.Met161Ile)
|
|
|
NM_198578.4(LRRK2):c.4862_4863delinsTA (p.His1621Leu)
|
rs2136879702
|
|
NM_198578.4(LRRK2):c.4883G>A (p.Arg1628His)
|
rs33949390
|
|
NM_198578.4(LRRK2):c.4883G>C (p.Arg1628Pro)
|
rs33949390
|
|
NM_198578.4(LRRK2):c.491T>C (p.Phe164Ser)
|
rs2136421740
|
|
NM_198578.4(LRRK2):c.4930A>G (p.Asn1644Asp)
|
rs886049361
|
|
NM_198578.4(LRRK2):c.4954C>G (p.Leu1652Val)
|
|
|
NM_198578.4(LRRK2):c.5020_5023del (p.Ser1674fs)
|
|
|
NM_198578.4(LRRK2):c.5096A>G (p.Tyr1699Cys)
|
rs35801418
|
|
NM_198578.4(LRRK2):c.5104A>G (p.Met1702Val)
|
|
|
NM_198578.4(LRRK2):c.5163A>C (p.Ser1721=)
|
rs79909111
|
|
NM_198578.4(LRRK2):c.5170+14_5170+28del
|
rs771022342
|
|
NM_198578.4(LRRK2):c.5173C>A (p.Arg1725=)
|
|
|
NM_198578.4(LRRK2):c.5173C>T (p.Arg1725Ter)
|
rs11564176
|
|
NM_198578.4(LRRK2):c.5183G>T (p.Arg1728Leu)
|
rs145364431
|
|
NM_198578.4(LRRK2):c.5225G>C (p.Trp1742Ser)
|
|
|
NM_198578.4(LRRK2):c.5237C>A (p.Ala1746Asp)
|
|
|
NM_198578.4(LRRK2):c.5240A>G (p.Tyr1747Cys)
|
|
|
NM_198578.4(LRRK2):c.5273A>C (p.His1758Pro)
|
rs878853310
|
|
NM_198578.4(LRRK2):c.5308T>C (p.Cys1770Arg)
|
|
|
NM_198578.4(LRRK2):c.5318-4G>A
|
|
|
NM_198578.4(LRRK2):c.531G>C (p.Gln177His)
|
rs2136421998
|
|
NM_198578.4(LRRK2):c.5338G>T (p.Val1780Phe)
|
|
|
NM_198578.4(LRRK2):c.5381G>T (p.Gly1794Val)
|
|
|
NM_198578.4(LRRK2):c.5385G>T (p.Leu1795Phe)
|
rs111910483
|
|
NM_198578.4(LRRK2):c.5393T>C (p.Ile1798Thr)
|
|
|
NM_198578.4(LRRK2):c.5402G>T (p.Cys1801Phe)
|
rs2136891322
|
|
NM_198578.4(LRRK2):c.5417C>T (p.Thr1806Ile)
|
rs201930496
|
|
NM_198578.4(LRRK2):c.5457_5458inv (p.Glu1820Lys)
|
|
|
NM_198578.4(LRRK2):c.546A>T (p.Lys182Asn)
|
|
|
NM_198578.4(LRRK2):c.5509G>A (p.Gly1837Arg)
|
rs201459392
|
|
NM_198578.4(LRRK2):c.5550T>C (p.Ile1850=)
|
rs2136894844
|
|
NM_198578.4(LRRK2):c.5594C>G (p.Pro1865Arg)
|
rs905690564
|
|
NM_198578.4(LRRK2):c.5605A>G (p.Met1869Val)
|
rs281865052
|
|
NM_198578.4(LRRK2):c.5610G>T (p.Leu1870Phe)
|
rs281865053
|
|
NM_198578.4(LRRK2):c.5615A>G (p.Asn1872Ser)
|
|
|
NM_198578.4(LRRK2):c.5620G>T (p.Glu1874Ter)
|
rs281865054
|
|
NM_198578.4(LRRK2):c.563T>A (p.Phe188Tyr)
|
|
|
NM_198578.4(LRRK2):c.5658T>G (p.Gly1886=)
|
|
|
NM_198578.4(LRRK2):c.5676A>G (p.Ser1892=)
|
|
|
NM_198578.4(LRRK2):c.5690C>G (p.Ala1897Gly)
|
|
|
NM_198578.4(LRRK2):c.5691C>G (p.Ala1897=)
|
|
|
NM_198578.4(LRRK2):c.5691C>T (p.Ala1897=)
|
rs200436043
|
|
NM_198578.4(LRRK2):c.5697A>G (p.Glu1899=)
|
|
|
NM_198578.4(LRRK2):c.5699G>A (p.Gly1900Glu)
|
|
|
NM_198578.4(LRRK2):c.5702AAG[1] (p.Glu1902del)
|
|
|
NM_198578.4(LRRK2):c.570A>T (p.Arg190Ser)
|
rs2136422298
|
|
NM_198578.4(LRRK2):c.571+18del
|
|
|
NM_198578.4(LRRK2):c.5713G>C (p.Val1905Leu)
|
rs754436306
|
|
NM_198578.4(LRRK2):c.5749T>C (p.Leu1917=)
|
|
|
NM_198578.4(LRRK2):c.5758-10A>G
|
|
|
NM_198578.4(LRRK2):c.5758-11G>A
|
|
|
NM_198578.4(LRRK2):c.5764G>A (p.Val1922Met)
|
rs2136937875
|
|
NM_198578.4(LRRK2):c.5817G>T (p.Gly1939=)
|
rs2136938036
|
|
NM_198578.4(LRRK2):c.5820T>C (p.Ile1940=)
|
|
|
NM_198578.4(LRRK2):c.5821C>A (p.Arg1941Ser)
|
|
|
NM_198578.4(LRRK2):c.5838G>A (p.Val1946=)
|
rs2136938127
|
|
NM_198578.4(LRRK2):c.5857G>C (p.Gly1953Arg)
|
|
|
NM_198578.4(LRRK2):c.5870G>A (p.Arg1957His)
|
|
|
NM_198578.4(LRRK2):c.5875C>A (p.Leu1959Ile)
|
|
|
NM_198578.4(LRRK2):c.5882A>G (p.Gln1961Arg)
|
|
|
NM_198578.4(LRRK2):c.589A>C (p.Thr197Pro)
|
|
|
NM_198578.4(LRRK2):c.5943T>C (p.Gly1981=)
|
|
|
NM_198578.4(LRRK2):c.5966T>G (p.Met1989Arg)
|
|
|
NM_198578.4(LRRK2):c.596T>G (p.Phe199Cys)
|
|
|
NM_198578.4(LRRK2):c.6004C>G (p.Leu2002Val)
|
rs1946002614
|
|
NM_198578.4(LRRK2):c.6016T>C (p.Tyr2006His)
|
rs281865055
|
|
NM_198578.4(LRRK2):c.6028G>A (p.Ala2010Thr)
|
|
|
NM_198578.4(LRRK2):c.6047C>T (p.Ala2016Val)
|
|
|
NM_198578.4(LRRK2):c.6059T>C (p.Ile2020Thr)
|
rs35870237
|
|
NM_198578.4(LRRK2):c.606C>T (p.Asn202=)
|
rs199854074
|
|
NM_198578.4(LRRK2):c.6087A>G (p.Ile2029Met)
|
rs761177119
|
|
NM_198578.4(LRRK2):c.6108A>G (p.Pro2036=)
|
|
|
NM_198578.4(LRRK2):c.6109+14T>C
|
|
|
NM_198578.4(LRRK2):c.6109+19C>T
|
rs2136954887
|
|
NM_198578.4(LRRK2):c.6109+6del
|
|
|
NM_198578.4(LRRK2):c.6110-8A>G
|
|
|
NM_198578.4(LRRK2):c.6141T>C (p.Asn2047=)
|
|
|
NM_198578.4(LRRK2):c.614A>G (p.Tyr205Cys)
|
|
|
NM_198578.4(LRRK2):c.6171T>C (p.Tyr2057=)
|
|
|
NM_198578.4(LRRK2):c.6187_6191del (p.Leu2062_Leu2063insTer)
|
rs111739194
|
|
NM_198578.4(LRRK2):c.6206C>G (p.Thr2069Ser)
|
|
|
NM_198578.4(LRRK2):c.6212G>A (p.Gly2071Asp)
|
|
|
NM_198578.4(LRRK2):c.6242A>T (p.Asn2081Ile)
|
|
|
NM_198578.4(LRRK2):c.6280+14T>C
|
|
|
NM_198578.4(LRRK2):c.6281-18T>A
|
|
|
NM_198578.4(LRRK2):c.6281-3dup
|
rs780258764
|
|
NM_198578.4(LRRK2):c.6336A>G (p.Lys2112=)
|
|
|
NM_198578.4(LRRK2):c.6347A>G (p.Lys2116Arg)
|
rs1592321778
|
|
NM_198578.4(LRRK2):c.6356C>T (p.Pro2119Leu)
|
rs12423862
|
|
NM_198578.4(LRRK2):c.6382-20T>C
|
|
|
NM_198578.4(LRRK2):c.6382-2A>G
|
rs1565772858
|
|
NM_198578.4(LRRK2):c.63C>A (p.Val21=)
|
|
|
NM_198578.4(LRRK2):c.6415T>A (p.Cys2139Ser)
|
rs112048985
|
|
NM_198578.4(LRRK2):c.6423G>A (p.Thr2141=)
|
rs369306296
|
|
NM_198578.4(LRRK2):c.6427C>T (p.Arg2143Cys)
|
|
|
NM_198578.4(LRRK2):c.6439C>A (p.Pro2147Thr)
|
|
|
NM_198578.4(LRRK2):c.6448G>C (p.Val2150Leu)
|
rs755564073
|
|
NM_198578.4(LRRK2):c.6461G>T (p.Cys2154Phe)
|
|
|
NM_198578.4(LRRK2):c.6463A>G (p.Met2155Val)
|
|
|
NM_198578.4(LRRK2):c.6463A>T (p.Met2155Leu)
|
|
|
NM_198578.4(LRRK2):c.6499A>G (p.Ile2167Val)
|
|
|
NM_198578.4(LRRK2):c.651T>G (p.Asp217Glu)
|
|
|
NM_198578.4(LRRK2):c.6522C>T (p.Thr2174=)
|
|
|
NM_198578.4(LRRK2):c.6523G>C (p.Asp2175His)
|
rs72547981
|
|
NM_198578.4(LRRK2):c.6533A>G (p.Gln2178Arg)
|
|
|
NM_198578.4(LRRK2):c.6557C>T (p.Thr2186Ile)
|
|
|
NM_198578.4(LRRK2):c.6583G>T (p.Ala2195Ser)
|
rs1946461726
|
|
NM_198578.4(LRRK2):c.6584C>T (p.Ala2195Val)
|
|
|
NM_198578.4(LRRK2):c.6584_6586del (p.Ala2195del)
|
rs773490625
|
|
NM_198578.4(LRRK2):c.6589A>G (p.Ser2197Gly)
|
rs1946461955
|
|
NM_198578.4(LRRK2):c.6621T>C (p.Leu2207=)
|
|
|
NM_198578.4(LRRK2):c.6694G>A (p.Gly2232Arg)
|
|
|
NM_198578.4(LRRK2):c.6707A>T (p.His2236Leu)
|
|
|
NM_198578.4(LRRK2):c.6711C>G (p.Thr2237=)
|
|
|
NM_198578.4(LRRK2):c.6714A>T (p.Leu2238=)
|
rs202244108
|
|
NM_198578.4(LRRK2):c.6764A>T (p.Lys2255Met)
|
|
|
NM_198578.4(LRRK2):c.6770+1G>C
|
|
|
NM_198578.4(LRRK2):c.6771-15del
|
|
|
NM_198578.4(LRRK2):c.6771C>A (p.Ser2257Arg)
|
|
|
NM_198578.4(LRRK2):c.6782A>T (p.Asn2261Ile)
|
rs12581902
|
|
NM_198578.4(LRRK2):c.67C>T (p.Leu23=)
|
|
|
NM_198578.4(LRRK2):c.6806A>G (p.Asp2269Gly)
|
rs922038810
|
|
NM_198578.4(LRRK2):c.6822T>G (p.Ile2274Met)
|
|
|
NM_198578.4(LRRK2):c.6843+12A>G
|
|
|
NM_198578.4(LRRK2):c.6843+8T>C
|
|
|
NM_198578.4(LRRK2):c.6844-15_6844-14insC
|
|
|
NM_198578.4(LRRK2):c.6844-8dup
|
rs72546334
|
|
NM_198578.4(LRRK2):c.6844-9_6844-8dup
|
rs72546334
|
|
NM_198578.4(LRRK2):c.6898T>C (p.Leu2300=)
|
|
|
NM_198578.4(LRRK2):c.6919A>C (p.Thr2307Pro)
|
|
|
NM_198578.4(LRRK2):c.6930G>A (p.Thr2310=)
|
|
|
NM_198578.4(LRRK2):c.6938A>G (p.Asn2313Ser)
|
|
|
NM_198578.4(LRRK2):c.693C>T (p.Ser231=)
|
rs1592146379
|
|
NM_198578.4(LRRK2):c.698C>T (p.Ala233Val)
|
|
|
NM_198578.4(LRRK2):c.7006A>G (p.Ile2336Val)
|
rs878853311
|
|
NM_198578.4(LRRK2):c.7015A>G (p.Arg2339Gly)
|
|
|
NM_198578.4(LRRK2):c.7029-10T>C
|
|
|
NM_198578.4(LRRK2):c.7029-16T>A
|
|
|
NM_198578.4(LRRK2):c.7029-16T>C
|
|
|
NM_198578.4(LRRK2):c.7029-3T>G
|
|
|
NM_198578.4(LRRK2):c.7029-4G>T
|
|
|
NM_198578.4(LRRK2):c.7029-9del
|
rs11317573
|
|
NM_198578.4(LRRK2):c.7043C>G (p.Ala2348Gly)
|
|
|
NM_198578.4(LRRK2):c.706+10A>C
|
|
|
NM_198578.4(LRRK2):c.707-13T>C
|
rs1368131495
|
|
NM_198578.4(LRRK2):c.707-14C>T
|
rs777734222
|
|
NM_198578.4(LRRK2):c.707-15T>A
|
|
|
NM_198578.4(LRRK2):c.7070T>C (p.Val2357Ala)
|
|
|
NM_198578.4(LRRK2):c.7089C>T (p.Leu2363=)
|
|
|
NM_198578.4(LRRK2):c.709AAT[1] (p.Asn238del)
|
rs886049355
|
|
NM_198578.4(LRRK2):c.7146A>C (p.Lys2382Asn)
|
rs919570241
|
|
NM_198578.4(LRRK2):c.7182-8G>A
|
|
|
NM_198578.4(LRRK2):c.7182G>A (p.Arg2394=)
|
|
|
NM_198578.4(LRRK2):c.7183G>A (p.Glu2395Lys)
|
rs78964014
|
|
NM_198578.4(LRRK2):c.71A>G (p.Asn24Ser)
|
|
|
NM_198578.4(LRRK2):c.724C>T (p.Leu242Phe)
|
|
|
NM_198578.4(LRRK2):c.7267A>T (p.Thr2423Ser)
|
rs1060499538
|
|
NM_198578.4(LRRK2):c.727A>T (p.Met243Leu)
|
|
|
NM_198578.4(LRRK2):c.7280T>C (p.Ile2427Thr)
|
|
|
NM_198578.4(LRRK2):c.7296C>G (p.Gly2432=)
|
rs199964631
|
|
NM_198578.4(LRRK2):c.7337G>A (p.Arg2446His)
|
|
|
NM_198578.4(LRRK2):c.7366A>G (p.Arg2456Gly)
|
rs1447385518
|
|
NM_198578.4(LRRK2):c.7375A>T (p.Met2459Leu)
|
|
|
NM_198578.4(LRRK2):c.7376T>C (p.Met2459Thr)
|
|
|
NM_198578.4(LRRK2):c.7384C>T (p.Gln2462Ter)
|
rs765894452
|
|
NM_198578.4(LRRK2):c.7390+20A>G
|
|
|
NM_198578.4(LRRK2):c.7430G>A (p.Arg2477Gln)
|
rs146428335
|
|
NM_198578.4(LRRK2):c.7463-8T>C
|
|
|
NM_198578.4(LRRK2):c.7468del (p.Gln2490fs)
|
rs281865058
|
|
NM_198578.4(LRRK2):c.7475G>T (p.Cys2492Phe)
|
rs774904977
|
|
NM_198578.4(LRRK2):c.7482C>T (p.Thr2494=)
|
|
|
NM_198578.4(LRRK2):c.7493T>A (p.Ile2498Asn)
|
|
|
NM_198578.4(LRRK2):c.7496A>G (p.Asn2499Ser)
|
|
|
NM_198578.4(LRRK2):c.751A>G (p.Asn251Asp)
|
|
|
NM_198578.4(LRRK2):c.7521A>G (p.Leu2507=)
|
|
|
NM_198578.4(LRRK2):c.7563G>A (p.Met2521Ile)
|
|
|
NM_198578.4(LRRK2):c.7573T>C (p.Ser2525Pro)
|
rs200418197
|
|
NM_198578.4(LRRK2):c.75T>C (p.Asn25=)
|
rs1592124542
|
|
NM_198578.4(LRRK2):c.775G>T (p.Ala259Ser)
|
|
|
NM_198578.4(LRRK2):c.819G>T (p.Leu273Phe)
|
|
|
NM_198578.4(LRRK2):c.838+10T>A
|
|
|
NM_198578.4(LRRK2):c.862T>G (p.Leu288Val)
|
|
|
NM_198578.4(LRRK2):c.867C>A (p.Asn289Lys)
|
|
|
NM_198578.4(LRRK2):c.894T>C (p.Ala298=)
|
rs57355477
|
|
NM_198578.4(LRRK2):c.909A>G (p.Pro303=)
|
|
|
NM_198578.4(LRRK2):c.921A>G (p.Ala307=)
|
rs1942177952
|
|
NM_198578.4(LRRK2):c.936G>T (p.Ala312=)
|
rs41286466
|
|
NM_198578.4(LRRK2):c.93_94del (p.Gln31fs)
|
rs2136364047
|
|
NM_198578.4(LRRK2):c.94A>T (p.Ile32Leu)
|
|
|
NM_198578.4(LRRK2):c.952C>T (p.Leu318Phe)
|
|
|
NM_198578.4(LRRK2):c.959-13A>C
|
|
|
NM_198578.4(LRRK2):c.959-19T>G
|
|
|
NM_198578.4(LRRK2):c.972C>T (p.Phe324=)
|
|
|
NM_198578.4(LRRK2):c.996_997del (p.Lys332_Asn333insTer)
|
|
|
NM_203446.2(SYNJ1):c.12A>T (p.Arg4Ser)
|
rs1456208463
|
|
NM_203446.2(SYNJ1):c.17C>G (p.Ala6Gly)
|
|
|
NM_203446.2(SYNJ1):c.18C>T (p.Ala6=)
|
|
|
NM_203446.2(SYNJ1):c.20G>A (p.Cys7Tyr)
|
|
|
NM_203446.2(SYNJ1):c.20G>C (p.Cys7Ser)
|
|
|
NM_203446.2(SYNJ1):c.24G>A (p.Trp8Ter)
|
rs1569147057
|
|
NM_203446.2(SYNJ1):c.24G>C (p.Trp8Cys)
|
|
|
NM_203446.2(SYNJ1):c.2T>G (p.Met1Arg)
|
|
|
NM_203446.2(SYNJ1):c.6G>A (p.Arg2=)
|
|
|
NM_203446.2(SYNJ1):c.7delA (p.Lys3Argfs)
|
|
|
NM_203446.3(SYNJ1):c.*100G>T
|
rs2039335923
|
|
NM_203446.3(SYNJ1):c.*104A>G
|
|
|
NM_203446.3(SYNJ1):c.*117A>G
|
|
|
NM_203446.3(SYNJ1):c.*134C>A
|
|
|
NM_203446.3(SYNJ1):c.*135C>T
|
|
|
NM_203446.3(SYNJ1):c.*14A>G
|
rs1274914337
|
|
NM_203446.3(SYNJ1):c.*158A>G
|
rs1340359289
|
|
NM_203446.3(SYNJ1):c.*162G>T
|
|
|
NM_203446.3(SYNJ1):c.*163C>T
|
|
|
NM_203446.3(SYNJ1):c.*168T>C
|
|
|
NM_203446.3(SYNJ1):c.*173C>T
|
rs1341548536
|
|
NM_203446.3(SYNJ1):c.*182A>G
|
rs1272633166
|
|
NM_203446.3(SYNJ1):c.*186_*187insAATACT
|
rs57257560
|
|
NM_203446.3(SYNJ1):c.*186_*187insATTACT
|
rs57257560
|
|
NM_203446.3(SYNJ1):c.*188T>C
|
rs866258846
|
|
NM_203446.3(SYNJ1):c.*189G>A
|
|
|
NM_203446.3(SYNJ1):c.*18A>G
|
|
|
NM_203446.3(SYNJ1):c.*195T>C
|
rs1323976540
|
|
NM_203446.3(SYNJ1):c.*196G>C
|
|
|
NM_203446.3(SYNJ1):c.*210A>C
|
|
|
NM_203446.3(SYNJ1):c.*227C>T
|
|
|
NM_203446.3(SYNJ1):c.*227_*244dup
|
rs1332100317
|
|
NM_203446.3(SYNJ1):c.*230C>T
|
|
|
NM_203446.3(SYNJ1):c.*234G>A
|
|
|
NM_203446.3(SYNJ1):c.*234G>T
|
rs777299829
|
|
NM_203446.3(SYNJ1):c.*251A>T
|
rs2145658543
|
|
NM_203446.3(SYNJ1):c.*255G>T
|
rs2039328082
|
|
NM_203446.3(SYNJ1):c.*257G>A
|
rs112469776
|
|
NM_203446.3(SYNJ1):c.*276del
|
rs1324658792
|
|
NM_203446.3(SYNJ1):c.*283G>A
|
|
|
NM_203446.3(SYNJ1):c.*284G>C
|
rs2039326240
|
|
NM_203446.3(SYNJ1):c.*291C>G
|
|
|
NM_203446.3(SYNJ1):c.*295A>G
|
rs2039325513
|
|
NM_203446.3(SYNJ1):c.*303T>G
|
rs2145657976
|
|
NM_203446.3(SYNJ1):c.*309T>G
|
rs750670440
|
|
NM_203446.3(SYNJ1):c.*316del
|
rs1569014970
|
|
NM_203446.3(SYNJ1):c.*321T>C
|
|
|
NM_203446.3(SYNJ1):c.*325C>T
|
|
|
NM_203446.3(SYNJ1):c.*345C>T
|
|
|
NM_203446.3(SYNJ1):c.*347A>T
|
|
|
NM_203446.3(SYNJ1):c.*349T>C
|
|
|
NM_203446.3(SYNJ1):c.*363G>A
|
|
|
NM_203446.3(SYNJ1):c.*367A>G
|
rs2145657513
|
|
NM_203446.3(SYNJ1):c.*387A>G
|
|
|
NM_203446.3(SYNJ1):c.*394G>A
|
|
|
NM_203446.3(SYNJ1):c.*396T>C
|
rs776168774
|
|
NM_203446.3(SYNJ1):c.*4-10T>C
|
|
|
NM_203446.3(SYNJ1):c.*4-17C>T
|
rs2145660723
|
|
NM_203446.3(SYNJ1):c.*4-18G>A
|
|
|
NM_203446.3(SYNJ1):c.*4-19T>C
|
|
|
NM_203446.3(SYNJ1):c.*412C>G
|
rs1012542243
|
|
NM_203446.3(SYNJ1):c.*431G>A
|
rs2145657162
|
|
NM_203446.3(SYNJ1):c.*442A>G
|
rs1443131725
|
|
NM_203446.3(SYNJ1):c.*449C>A
|
rs758233799
|
|
NM_203446.3(SYNJ1):c.*453A>G
|
|
|
NM_203446.3(SYNJ1):c.*459A>G
|
rs2039318354
|
|
NM_203446.3(SYNJ1):c.*474G>A
|
rs767728958
|
|
NM_203446.3(SYNJ1):c.*482T>C
|
rs2145656729
|
|
NM_203446.3(SYNJ1):c.*485A>T
|
rs764848521
|
|
NM_203446.3(SYNJ1):c.*521C>G
|
rs749527882
|
|
NM_203446.3(SYNJ1):c.*521C>T
|
rs749527882
|
|
NM_203446.3(SYNJ1):c.*526G>A
|
rs1304102538
|
|
NM_203446.3(SYNJ1):c.*527G>A
|
|
|
NM_203446.3(SYNJ1):c.*530G>A
|
rs779923204
|
|
NM_203446.3(SYNJ1):c.*536C>T
|
rs1173883015
|
|
NM_203446.3(SYNJ1):c.*54T>G
|
|
|
NM_203446.3(SYNJ1):c.*560del
|
rs2145656120
|
|
NM_203446.3(SYNJ1):c.*574T>A
|
rs138122167
|
|
NM_203446.3(SYNJ1):c.*576A>G
|
|
|
NM_203446.3(SYNJ1):c.*576_*584del
|
rs769088554
|
|
NM_203446.3(SYNJ1):c.*594C>G
|
rs759611619
|
|
NM_203446.3(SYNJ1):c.*602G>T
|
|
|
NM_203446.3(SYNJ1):c.*604A>C
|
|
|
NM_203446.3(SYNJ1):c.*60A>C
|
rs1020861731
|
|
NM_203446.3(SYNJ1):c.*60A>G
|
rs1020861731
|
|
NM_203446.3(SYNJ1):c.*613A>C
|
rs769954720
|
|
NM_203446.3(SYNJ1):c.*626G>A
|
|
|
NM_203446.3(SYNJ1):c.*628T>A
|
rs2145655637
|
|
NM_203446.3(SYNJ1):c.*633C>T
|
rs2145655621
|
|
NM_203446.3(SYNJ1):c.*634C>T
|
|
|
NM_203446.3(SYNJ1):c.*639A>G
|
|
|
NM_203446.3(SYNJ1):c.*641dup
|
rs913236256
|
|
NM_203446.3(SYNJ1):c.*643A>C
|
rs1245480307
|
|
NM_203446.3(SYNJ1):c.*661G>A
|
|
|
NM_203446.3(SYNJ1):c.*668A>C
|
rs2039305821
|
|
NM_203446.3(SYNJ1):c.*669T>C
|
|
|
NM_203446.3(SYNJ1):c.*676T>C
|
rs2039305600
|
|
NM_203446.3(SYNJ1):c.*677_*679del
|
rs528030561
|
|
NM_203446.3(SYNJ1):c.*678C>G
|
rs760299495
|
|
NM_203446.3(SYNJ1):c.*679T>A
|
rs2145655207
|
|
NM_203446.3(SYNJ1):c.*681T>C
|
|
|
NM_203446.3(SYNJ1):c.*684G>A
|
|
|
NM_203446.3(SYNJ1):c.*690G>T
|
|
|
NM_203446.3(SYNJ1):c.*703C>T
|
|
|
NM_203446.3(SYNJ1):c.*704C>T
|
|
|
NM_203446.3(SYNJ1):c.*712C>T
|
rs2039303366
|
|
NM_203446.3(SYNJ1):c.*719C>G
|
|
|
NM_203446.3(SYNJ1):c.*719CT[1]
|
rs1236484854
|
|
NM_203446.3(SYNJ1):c.*731C>T
|
|
|
NM_203446.3(SYNJ1):c.*740G>A
|
|
|
NM_203446.3(SYNJ1):c.*743C>A
|
|
|
NM_203446.3(SYNJ1):c.*750A>G
|
|
|
NM_203446.3(SYNJ1):c.*753T>C
|
rs2145654435
|
|
NM_203446.3(SYNJ1):c.*755C>T
|
rs2039299981
|
|
NM_203446.3(SYNJ1):c.*762G>C
|
|
|
NM_203446.3(SYNJ1):c.*767T>G
|
rs764949465
|
|
NM_203446.3(SYNJ1):c.*769G>A
|
|
|
NM_203446.3(SYNJ1):c.*770C>T
|
rs2039298283
|
|
NM_203446.3(SYNJ1):c.*778G>A
|
|
|
NM_203446.3(SYNJ1):c.*783A>G
|
|
|
NM_203446.3(SYNJ1):c.*797T>A
|
rs2145653931
|
|
NM_203446.3(SYNJ1):c.*7A>G
|
|
|
NM_203446.3(SYNJ1):c.*801A>G
|
|
|
NM_203446.3(SYNJ1):c.*806G>C
|
rs772562248
|
|
NM_203446.3(SYNJ1):c.*807A>G
|
rs2039296175
|
|
NM_203446.3(SYNJ1):c.*88G>C
|
rs2145660026
|
|
NM_203446.3(SYNJ1):c.*89C>T
|
rs2039336435
|
|
NM_203446.3(SYNJ1):c.*92T>C
|
|
|
NM_203446.3(SYNJ1):c.-22-19C>G
|
|
|
NM_203446.3(SYNJ1):c.-22-3C>T
|
|
|
NM_203446.3(SYNJ1):c.-22-4G>A
|
rs771283717
|
|
NM_203446.3(SYNJ1):c.-22-4G>T
|
|
|
NM_203446.3(SYNJ1):c.-22-5C>T
|
|
|
NM_203446.3(SYNJ1):c.-23+11C>A
|
|
|
NM_203446.3(SYNJ1):c.-23+12_-23+13dup
|
|
|
NM_203446.3(SYNJ1):c.-23+16G>A
|
|
|
NM_203446.3(SYNJ1):c.-23+16G>C
|
rs905741954
|
|
NM_203446.3(SYNJ1):c.-23+16G>T
|
|
|
NM_203446.3(SYNJ1):c.-23+3G>A
|
rs779813770
|
|
NM_203446.3(SYNJ1):c.-23+8A>G
|
|
|
NM_203446.3(SYNJ1):c.-23G>A
|
rs1195858283
|
|
NM_203446.3(SYNJ1):c.-25G>A
|
rs2146446925
|
|
NM_203446.3(SYNJ1):c.-27A>G
|
|
|
NM_203446.3(SYNJ1):c.-29G>A
|
rs2043550944
|
|
NM_203446.3(SYNJ1):c.-30A>G
|
rs2043551030
|
|
NM_203446.3(SYNJ1):c.-33C>T
|
|
|
NM_203446.3(SYNJ1):c.-40G>A
|
|
|
NM_203446.3(SYNJ1):c.-43G>C
|
rs2043552321
|
|
NM_203446.3(SYNJ1):c.-46GAG[5]
|
|
|
NM_203446.3(SYNJ1):c.-4G>A
|
|
|
NM_203446.3(SYNJ1):c.-51A>C
|
rs1394751497
|
|
NM_203446.3(SYNJ1):c.-55C>G
|
rs1569146878
|
|
NM_203446.3(SYNJ1):c.-56_-55delinsAT
|
rs2043553723
|
|
NM_203446.3(SYNJ1):c.-58C>T
|
|
|
NM_203446.3(SYNJ1):c.-60G>T
|
rs535611172
|
|
NM_203446.3(SYNJ1):c.-61C>A
|
rs932881262
|
|
NM_203446.3(SYNJ1):c.-64C>A
|
rs869206401
|
|
NM_203446.3(SYNJ1):c.-64C>G
|
rs869206401
|
|
NM_203446.3(SYNJ1):c.-64_-53del
|
|
|
NM_203446.3(SYNJ1):c.-64_-53dup
|
rs1427487040
|
|
NM_203446.3(SYNJ1):c.-67_-56del
|
rs1035093736
|
|
NM_203446.3(SYNJ1):c.-70C>T
|
|
|
NM_203446.3(SYNJ1):c.-73C>A
|
|
|
NM_203446.3(SYNJ1):c.-75G>A
|
rs2043555401
|
|
NM_203446.3(SYNJ1):c.-76C>A
|
|
|
NM_203446.3(SYNJ1):c.-77C>T
|
|
|
NM_203446.3(SYNJ1):c.-78C>T
|
rs1441295192
|
|
NM_203446.3(SYNJ1):c.-79T>G
|
|
|
NM_203446.3(SYNJ1):c.-89G>T
|
rs1339841336
|
|
NM_203446.3(SYNJ1):c.1001A>G (p.Asp334Gly)
|
rs2146090425
|
|
NM_203446.3(SYNJ1):c.1005TCA[3] (p.His336_Gln337insHis)
|
rs760622908
|
|
NM_203446.3(SYNJ1):c.100G>A (p.Glu34Lys)
|
|
|
NM_203446.3(SYNJ1):c.1017T>C (p.Val339=)
|
rs2146090232
|
|
NM_203446.3(SYNJ1):c.102G>A (p.Glu34=)
|
|
|
NM_203446.3(SYNJ1):c.1042C>A (p.His348Asn)
|
rs2041820050
|
|
NM_203446.3(SYNJ1):c.1046G>T (p.Ser349Ile)
|
rs748368610
|
|
NM_203446.3(SYNJ1):c.1047T>C (p.Ser349=)
|
rs2041819587
|
|
NM_203446.3(SYNJ1):c.1055A>C (p.Lys352Thr)
|
rs1339451929
|
|
NM_203446.3(SYNJ1):c.1066C>T (p.Gln356Ter)
|
|
|
NM_203446.3(SYNJ1):c.1093dup (p.Tyr365fs)
|
rs1419316294
|
|
NM_203446.3(SYNJ1):c.109G>T (p.Ala37Ser)
|
|
|
NM_203446.3(SYNJ1):c.1101T>C (p.Asn367=)
|
|
|
NM_203446.3(SYNJ1):c.1111G>A (p.Val371Ile)
|
|
|
NM_203446.3(SYNJ1):c.1114C>G (p.Gln372Glu)
|
|
|
NM_203446.3(SYNJ1):c.1116A>G (p.Gln372=)
|
|
|
NM_203446.3(SYNJ1):c.1118+11T>G
|
|
|
NM_203446.3(SYNJ1):c.1118+14G>A
|
|
|
NM_203446.3(SYNJ1):c.1119-8G>A
|
|
|
NM_203446.3(SYNJ1):c.1126A>G (p.Ser376Gly)
|
rs1163151498
|
|
NM_203446.3(SYNJ1):c.1150T>C (p.Leu384=)
|
rs1382405019
|
|
NM_203446.3(SYNJ1):c.1157G>A (p.Cys386Tyr)
|
rs2041732521
|
|
NM_203446.3(SYNJ1):c.1175G>C (p.Ser392Thr)
|
|
|
NM_203446.3(SYNJ1):c.1179G>T (p.Val393=)
|
rs1179626154
|
|
NM_203446.3(SYNJ1):c.1183G>A (p.Ala395Thr)
|
rs746354059
|
|
NM_203446.3(SYNJ1):c.1200+19A>G
|
|
|
NM_203446.3(SYNJ1):c.1200+2dup
|
rs2146072160
|
|
NM_203446.3(SYNJ1):c.1200+6A>C
|
rs754273455
|
|
NM_203446.3(SYNJ1):c.1201-16_1201-15del
|
rs2041629073
|
|
NM_203446.3(SYNJ1):c.1201-17C>A
|
|
|
NM_203446.3(SYNJ1):c.1201-8T>G
|
|
|
NM_203446.3(SYNJ1):c.1208C>T (p.Ala403Val)
|
rs2146048014
|
|
NM_203446.3(SYNJ1):c.1213C>T (p.Gln405Ter)
|
|
|
NM_203446.3(SYNJ1):c.1227T>C (p.Leu409=)
|
|
|
NM_203446.3(SYNJ1):c.1228G>A (p.Gly410Ser)
|
|
|
NM_203446.3(SYNJ1):c.124+12G>T
|
|
|
NM_203446.3(SYNJ1):c.124+19C>G
|
|
|
NM_203446.3(SYNJ1):c.124+19C>T
|
|
|
NM_203446.3(SYNJ1):c.124+20C>T
|
rs2043472963
|
|
NM_203446.3(SYNJ1):c.1244C>T (p.Pro415Leu)
|
rs2146047706
|
|
NM_203446.3(SYNJ1):c.1249T>C (p.Leu417=)
|
|
|
NM_203446.3(SYNJ1):c.125-6_125-5del
|
rs769191151
|
|
NM_203446.3(SYNJ1):c.1259G>A (p.Arg420His)
|
rs1060499619
|
|
NM_203446.3(SYNJ1):c.1259G>C (p.Arg420Pro)
|
rs1060499619
|
|
NM_203446.3(SYNJ1):c.1265A>C (p.Gln422Pro)
|
rs1474918219
|
|
NM_203446.3(SYNJ1):c.1269A>G (p.Glu423=)
|
|
|
NM_203446.3(SYNJ1):c.126A>G (p.Ser42=)
|
rs1286622528
|
|
NM_203446.3(SYNJ1):c.126A>T (p.Ser42=)
|
rs1286622528
|
|
NM_203446.3(SYNJ1):c.1277G>A (p.Arg426Gln)
|
rs1601403500
|
|
NM_203446.3(SYNJ1):c.1279_1280dup (p.Met428fs)
|
rs2146047336
|
|
NM_203446.3(SYNJ1):c.1282A>G (p.Met428Val)
|
|
|
NM_203446.3(SYNJ1):c.1301A>G (p.Asp434Gly)
|
|
|
NM_203446.3(SYNJ1):c.130G>T (p.Ala44Ser)
|
rs771635470
|
|
NM_203446.3(SYNJ1):c.1311T>C (p.Ser437=)
|
rs969673470
|
|
NM_203446.3(SYNJ1):c.1323A>G (p.Ala441=)
|
rs1468223961
|
|
NM_203446.3(SYNJ1):c.1334C>T (p.Ala445Val)
|
|
|
NM_203446.3(SYNJ1):c.1335T>C (p.Ala445=)
|
rs964382126
|
|
NM_203446.3(SYNJ1):c.133G>A (p.Glu45Lys)
|
rs2042422640
|
|
NM_203446.3(SYNJ1):c.1349C>A (p.Ala450Glu)
|
rs1416896181
|
|
NM_203446.3(SYNJ1):c.1349C>T (p.Ala450Val)
|
|
|
NM_203446.3(SYNJ1):c.1350G>A (p.Ala450=)
|
|
|
NM_203446.3(SYNJ1):c.1353+15A>C
|
rs372526476
|
|
NM_203446.3(SYNJ1):c.1353+15A>G
|
|
|
NM_203446.3(SYNJ1):c.1353+20A>G
|
|
|
NM_203446.3(SYNJ1):c.1353+5A>G
|
rs376825246
|
|
NM_203446.3(SYNJ1):c.1353+7C>T
|
|
|
NM_203446.3(SYNJ1):c.1367C>A (p.Ala456Asp)
|
rs2041512501
|
|
NM_203446.3(SYNJ1):c.1389T>A (p.Ile463=)
|
|
|
NM_203446.3(SYNJ1):c.1399T>C (p.Phe467Leu)
|
rs2041510835
|
|
NM_203446.3(SYNJ1):c.1404T>C (p.Phe468=)
|
rs2146025354
|
|
NM_203446.3(SYNJ1):c.1415A>G (p.Lys472Arg)
|
rs2146025295
|
|
NM_203446.3(SYNJ1):c.1425C>G (p.Ala475=)
|
|
|
NM_203446.3(SYNJ1):c.1426A>G (p.Ile476Val)
|
|
|
NM_203446.3(SYNJ1):c.1448A>G (p.Asn483Ser)
|
rs1200169091
|
|
NM_203446.3(SYNJ1):c.1449T>G (p.Asn483Lys)
|
rs1490214505
|
|
NM_203446.3(SYNJ1):c.1465T>G (p.Leu489Val)
|
rs1261158817
|
|
NM_203446.3(SYNJ1):c.1466T>C (p.Leu489Ser)
|
rs1238065971
|
|
NM_203446.3(SYNJ1):c.1468G>C (p.Ala490Pro)
|
rs2146025005
|
|
NM_203446.3(SYNJ1):c.1480C>T (p.Arg494Ter)
|
|
|
NM_203446.3(SYNJ1):c.1483G>A (p.Ala495Thr)
|
|
|
NM_203446.3(SYNJ1):c.150G>A (p.Lys50=)
|
rs2042422021
|
|
NM_203446.3(SYNJ1):c.1510+13T>A
|
rs75688000
|
|
NM_203446.3(SYNJ1):c.1510+14A>G
|
|
|
NM_203446.3(SYNJ1):c.1510+16_1510+17del
|
rs138729271
|
|
NM_203446.3(SYNJ1):c.1511-14T>G
|
|
|
NM_203446.3(SYNJ1):c.1511-16_1511-14del
|
|
|
NM_203446.3(SYNJ1):c.1511-5C>A
|
rs2041408513
|
|
NM_203446.3(SYNJ1):c.1533A>G (p.Ser511=)
|
|
|
NM_203446.3(SYNJ1):c.1534+4C>G
|
|
|
NM_203446.3(SYNJ1):c.1534+5A>G
|
rs367718431
|
|
NM_203446.3(SYNJ1):c.1534+9T>C
|
rs754756374
|
|
NM_203446.3(SYNJ1):c.1535-18G>A
|
rs1170021366
|
|
NM_203446.3(SYNJ1):c.1550T>G (p.Leu517Arg)
|
|
|
NM_203446.3(SYNJ1):c.1559T>C (p.Met520Thr)
|
|
|
NM_203446.3(SYNJ1):c.1605A>G (p.Val535=)
|
|
|
NM_203446.3(SYNJ1):c.1609G>A (p.Val537Ile)
|
rs1555898799
|
|
NM_203446.3(SYNJ1):c.1611C>G (p.Val537=)
|
rs150180190
|
|
NM_203446.3(SYNJ1):c.1617C>A (p.Thr539=)
|
rs2145981618
|
|
NM_203446.3(SYNJ1):c.161C>T (p.Ser54Phe)
|
rs2042421673
|
|
NM_203446.3(SYNJ1):c.162C>T (p.Ser54=)
|
rs745320827
|
|
NM_203446.3(SYNJ1):c.1646G>A (p.Arg549His)
|
rs1363168296
|
|
NM_203446.3(SYNJ1):c.1659T>C (p.Phe553=)
|
rs1374033047
|
|
NM_203446.3(SYNJ1):c.1696_1699del (p.Pro566fs)
|
rs2145981153
|
|
NM_203446.3(SYNJ1):c.1698C>A (p.Pro566=)
|
|
|
NM_203446.3(SYNJ1):c.1699A>C (p.Lys567Gln)
|
rs2145981132
|
|
NM_203446.3(SYNJ1):c.1711A>G (p.Ile571Val)
|
rs2145981059
|
|
NM_203446.3(SYNJ1):c.1717G>C (p.Glu573Gln)
|
rs1057062132
|
|
NM_203446.3(SYNJ1):c.1719G>A (p.Glu573=)
|
rs2041277581
|
|
NM_203446.3(SYNJ1):c.1726+10_1726+11insA
|
rs2145980880
|
|
NM_203446.3(SYNJ1):c.1726+6C>T
|
rs1225388121
|
|
NM_203446.3(SYNJ1):c.1727-11C>T
|
|
|
NM_203446.3(SYNJ1):c.1727-19C>T
|
|
|
NM_203446.3(SYNJ1):c.1728T>C (p.Asp576=)
|
rs761358064
|
|
NM_203446.3(SYNJ1):c.1745C>T (p.Thr582Ile)
|
|
|
NM_203446.3(SYNJ1):c.1762G>A (p.Gly588Ser)
|
|
|
NM_203446.3(SYNJ1):c.1777G>A (p.Val593Ile)
|
|
|
NM_203446.3(SYNJ1):c.1789G>A (p.Ala597Thr)
|
rs1601363222
|
|
NM_203446.3(SYNJ1):c.1797C>T (p.Asn599=)
|
|
|
NM_203446.3(SYNJ1):c.1800T>C (p.Ile600=)
|
rs1449222569
|
|
NM_203446.3(SYNJ1):c.1811+12A>G
|
|
|
NM_203446.3(SYNJ1):c.1811+8A>G
|
rs900904083
|
|
NM_203446.3(SYNJ1):c.1811+8_1811+9insCTT
|
rs1780660901
|
|
NM_203446.3(SYNJ1):c.1811+9G>A
|
rs772164147
|
|
NM_203446.3(SYNJ1):c.1812-10T>A
|
rs2040942245
|
|
NM_203446.3(SYNJ1):c.1812-16T>G
|
rs1165805994
|
|
NM_203446.3(SYNJ1):c.1812-16del
|
|
|
NM_203446.3(SYNJ1):c.1835C>A (p.Ala612Asp)
|
rs2040941103
|
|
NM_203446.3(SYNJ1):c.1842A>G (p.Glu614=)
|
|
|
NM_203446.3(SYNJ1):c.1845T>A (p.Leu615=)
|
|
|
NM_203446.3(SYNJ1):c.1846C>A (p.Gln616Lys)
|
rs2040940591
|
|
NM_203446.3(SYNJ1):c.1851G>A (p.Lys617=)
|
rs2145927066
|
|
NM_203446.3(SYNJ1):c.1854A>G (p.Thr618=)
|
|
|
NM_203446.3(SYNJ1):c.186C>T (p.Leu62=)
|
|
|
NM_203446.3(SYNJ1):c.1876G>A (p.Val626Met)
|
rs2040938849
|
|
NM_203446.3(SYNJ1):c.1878G>A (p.Val626=)
|
rs1601348321
|
|
NM_203446.3(SYNJ1):c.1918_1921del (p.Val640fs)
|
rs1488690709
|
|
NM_203446.3(SYNJ1):c.1929A>G (p.Arg643=)
|
rs2145926496
|
|
NM_203446.3(SYNJ1):c.1933_1934delinsAG (p.Gln645Arg)
|
rs1555896707
|
|
NM_203446.3(SYNJ1):c.1942C>T (p.Pro648Ser)
|
|
|
NM_203446.3(SYNJ1):c.1950C>A (p.Ile650=)
|
|
|
NM_203446.3(SYNJ1):c.1951A>G (p.Arg651Gly)
|
|
|
NM_203446.3(SYNJ1):c.1952+17C>T
|
|
|
NM_203446.3(SYNJ1):c.1952+19C>T
|
rs2145926225
|
|
NM_203446.3(SYNJ1):c.1953-16A>C
|
|
|
NM_203446.3(SYNJ1):c.1953-9G>T
|
|
|
NM_203446.3(SYNJ1):c.1957G>A (p.Val653Ile)
|
rs1456047190
|
|
NM_203446.3(SYNJ1):c.1961C>T (p.Ala654Val)
|
rs2040918972
|
|
NM_203446.3(SYNJ1):c.1996A>G (p.Thr666Ala)
|
rs746423709
|
|
NM_203446.3(SYNJ1):c.2037T>C (p.His679=)
|
rs2145923461
|
|
NM_203446.3(SYNJ1):c.2043C>G (p.Thr681=)
|
rs780909870
|
|
NM_203446.3(SYNJ1):c.2045G>A (p.Ser682Asn)
|
rs754395543
|
|
NM_203446.3(SYNJ1):c.2047C>T (p.Leu683Phe)
|
rs2040916269
|
|
NM_203446.3(SYNJ1):c.2055C>T (p.Phe685=)
|
rs765857459
|
|
NM_203446.3(SYNJ1):c.2076A>T (p.Ala692=)
|
rs1411849491
|
|
NM_203446.3(SYNJ1):c.2079G>A (p.Gly693=)
|
rs2145923177
|
|
NM_203446.3(SYNJ1):c.2081A>C (p.Gln694Pro)
|
|
|
NM_203446.3(SYNJ1):c.2091C>G (p.Val697=)
|
|
|
NM_203446.3(SYNJ1):c.2091C>T (p.Val697=)
|
|
|
NM_203446.3(SYNJ1):c.2096A>G (p.Glu699Gly)
|
rs2145923109
|
|
NM_203446.3(SYNJ1):c.2106A>G (p.Glu702=)
|
|
|
NM_203446.3(SYNJ1):c.211+11C>T
|
|
|
NM_203446.3(SYNJ1):c.2111T>G (p.Phe704Cys)
|
|
|
NM_203446.3(SYNJ1):c.2113A>T (p.Ile705Leu)
|
rs761614356
|
|
NM_203446.3(SYNJ1):c.212-13T>C
|
|
|
NM_203446.3(SYNJ1):c.212-15C>A
|
|
|
NM_203446.3(SYNJ1):c.2125C>G (p.Arg709Gly)
|
rs2040913777
|
|
NM_203446.3(SYNJ1):c.2125C>T (p.Arg709Ter)
|
|
|
NM_203446.3(SYNJ1):c.212G>A (p.Gly71Asp)
|
rs1438911029
|
|
NM_203446.3(SYNJ1):c.2131T>C (p.Leu711=)
|
|
|
NM_203446.3(SYNJ1):c.2143A>C (p.Met715Leu)
|
rs540251156
|
|
NM_203446.3(SYNJ1):c.2145+14G>A
|
|
|
NM_203446.3(SYNJ1):c.2145+18G>A
|
|
|
NM_203446.3(SYNJ1):c.2145+6C>T
|
|
|
NM_203446.3(SYNJ1):c.2145+8C>A
|
|
|
NM_203446.3(SYNJ1):c.2145+8C>G
|
|
|
NM_203446.3(SYNJ1):c.2146-12C>G
|
|
|
NM_203446.3(SYNJ1):c.2169C>T (p.Asp723=)
|
|
|
NM_203446.3(SYNJ1):c.2196C>T (p.Asn732=)
|
|
|
NM_203446.3(SYNJ1):c.219T>A (p.Thr73=)
|
|
|
NM_203446.3(SYNJ1):c.219T>C (p.Thr73=)
|
|
|
NM_203446.3(SYNJ1):c.2209C>T (p.Leu737Phe)
|
|
|
NM_203446.3(SYNJ1):c.2211C>G (p.Leu737=)
|
|
|
NM_203446.3(SYNJ1):c.2211C>T (p.Leu737=)
|
|
|
NM_203446.3(SYNJ1):c.2213C>A (p.Pro738His)
|
|
|
NM_203446.3(SYNJ1):c.2242C>T (p.Gln748Ter)
|
|
|
NM_203446.3(SYNJ1):c.2254del (p.Asp752fs)
|
rs2040866242
|
|
NM_203446.3(SYNJ1):c.225A>C (p.Leu75Phe)
|
rs2042346717
|
|
NM_203446.3(SYNJ1):c.2260C>T (p.Leu754Phe)
|
rs2145915558
|
|
NM_203446.3(SYNJ1):c.2277A>G (p.Gln759=)
|
|
|
NM_203446.3(SYNJ1):c.2281A>G (p.Ile761Val)
|
|
|
NM_203446.3(SYNJ1):c.2282T>C (p.Ile761Thr)
|
rs373953139
|
|
NM_203446.3(SYNJ1):c.2296G>T (p.Ala766Ser)
|
rs2040864240
|
|
NM_203446.3(SYNJ1):c.2298T>C (p.Ala766=)
|
|
|
NM_203446.3(SYNJ1):c.2304+15G>C
|
|
|
NM_203446.3(SYNJ1):c.2304+17_2304+20del
|
|
|
NM_203446.3(SYNJ1):c.2305-15A>G
|
|
|
NM_203446.3(SYNJ1):c.2305-17G>C
|
|
|
NM_203446.3(SYNJ1):c.2314G>A (p.Gly772Arg)
|
|
|
NM_203446.3(SYNJ1):c.231T>C (p.Tyr77=)
|
|
|
NM_203446.3(SYNJ1):c.2337C>G (p.Thr779=)
|
rs367656251
|
|
NM_203446.3(SYNJ1):c.2364G>C (p.Leu788Phe)
|
rs2040517909
|
|
NM_203446.3(SYNJ1):c.2383A>G (p.Thr795Ala)
|
|
|
NM_203446.3(SYNJ1):c.2385C>G (p.Thr795=)
|
|
|
NM_203446.3(SYNJ1):c.2386A>G (p.Ser796Gly)
|
rs2145858327
|
|
NM_203446.3(SYNJ1):c.2390A>C (p.Glu797Ala)
|
|
|
NM_203446.3(SYNJ1):c.2398C>T (p.Arg800Cys)
|
|
|
NM_203446.3(SYNJ1):c.2400C>T (p.Arg800=)
|
rs1429532362
|
|
NM_203446.3(SYNJ1):c.2405C>G (p.Pro802Arg)
|
|
|
NM_203446.3(SYNJ1):c.2406T>C (p.Pro802=)
|
|
|
NM_203446.3(SYNJ1):c.2421T>C (p.Arg807=)
|
|
|
NM_203446.3(SYNJ1):c.242T>G (p.Val81Gly)
|
|
|
NM_203446.3(SYNJ1):c.244A>T (p.Thr82Ser)
|
rs2042346087
|
|
NM_203446.3(SYNJ1):c.2461+2T>C
|
|
|
NM_203446.3(SYNJ1):c.2461+5G>T
|
|
|
NM_203446.3(SYNJ1):c.2462-10C>G
|
rs775703634
|
|
NM_203446.3(SYNJ1):c.2462-19T>C
|
rs2145854148
|
|
NM_203446.3(SYNJ1):c.2462-5T>C
|
|
|
NM_203446.3(SYNJ1):c.2462-6C>A
|
rs1601309850
|
|
NM_203446.3(SYNJ1):c.2472A>C (p.Leu824=)
|
rs1601309726
|
|
NM_203446.3(SYNJ1):c.2473G>T (p.Asp825Tyr)
|
rs2145853930
|
|
NM_203446.3(SYNJ1):c.2475TCT[1] (p.Leu827del)
|
rs769856515
|
|
NM_203446.3(SYNJ1):c.2494C>G (p.Gln832Glu)
|
|
|
NM_203446.3(SYNJ1):c.249A>T (p.Gly83=)
|
|
|
NM_203446.3(SYNJ1):c.24G>T (p.Arg8=)
|
rs2146433761
|
|
NM_203446.3(SYNJ1):c.2514G>C (p.Leu838=)
|
rs1367273913
|
|
NM_203446.3(SYNJ1):c.2519C>G (p.Thr840Arg)
|
|
|
NM_203446.3(SYNJ1):c.2523G>T (p.Trp841Cys)
|
rs2145853599
|
|
NM_203446.3(SYNJ1):c.2525C>A (p.Thr842Asn)
|
rs370346211
|
|
NM_203446.3(SYNJ1):c.2525C>T (p.Thr842Ile)
|
rs370346211
|
|
NM_203446.3(SYNJ1):c.2527C>G (p.Pro843Ala)
|
|
|
NM_203446.3(SYNJ1):c.2529A>C (p.Pro843=)
|
|
|
NM_203446.3(SYNJ1):c.2541_2542delinsTT (p.His848Tyr)
|
rs1601309236
|
|
NM_203446.3(SYNJ1):c.2546A>G (p.Tyr849Cys)
|
rs1057524877
|
|
NM_203446.3(SYNJ1):c.2547T>C (p.Tyr849=)
|
rs61756207
|
|
NM_203446.3(SYNJ1):c.254T>A (p.Met85Lys)
|
rs2042345500
|
|
NM_203446.3(SYNJ1):c.2554G>A (p.Ala852Thr)
|
|
|
NM_203446.3(SYNJ1):c.2579+14C>G
|
|
|
NM_203446.3(SYNJ1):c.2579+14_2579+15del
|
rs2040484641
|
|
NM_203446.3(SYNJ1):c.2580-14C>T
|
rs2145852326
|
|
NM_203446.3(SYNJ1):c.2580-20A>C
|
|
|
NM_203446.3(SYNJ1):c.2580-7C>T
|
rs2040478967
|
|
NM_203446.3(SYNJ1):c.2580-9T>C
|
rs1601308461
|
|
NM_203446.3(SYNJ1):c.2586C>G (p.Val862=)
|
|
|
NM_203446.3(SYNJ1):c.2587G>C (p.Val863Leu)
|
|
|
NM_203446.3(SYNJ1):c.258T>C (p.Ser86=)
|
|
|
NM_203446.3(SYNJ1):c.258T>G (p.Ser86=)
|
|
|
NM_203446.3(SYNJ1):c.2596A>G (p.Ile866Val)
|
|
|
NM_203446.3(SYNJ1):c.2607T>C (p.Asp869=)
|
rs2145851928
|
|
NM_203446.3(SYNJ1):c.2608A>G (p.Ile870Val)
|
rs2040476929
|
|
NM_203446.3(SYNJ1):c.2619dup (p.Glu874Ter)
|
|
|
NM_203446.3(SYNJ1):c.2631G>C (p.Glu877Asp)
|
rs375526059
|
|
NM_203446.3(SYNJ1):c.2653G>A (p.Val885Ile)
|
rs763757097
|
|
NM_203446.3(SYNJ1):c.2658T>C (p.Ile886=)
|
|
|
NM_203446.3(SYNJ1):c.2663T>G (p.Val888Gly)
|
rs2040474456
|
|
NM_203446.3(SYNJ1):c.2668G>C (p.Gly890Arg)
|
rs1187688126
|
|
NM_203446.3(SYNJ1):c.2678A>C (p.Asp893Ala)
|
|
|
NM_203446.3(SYNJ1):c.2685A>T (p.Thr895=)
|
rs939655575
|
|
NM_203446.3(SYNJ1):c.2686G>T (p.Val896Leu)
|
|
|
NM_203446.3(SYNJ1):c.2696C>T (p.Ser899Leu)
|
rs2145851319
|
|
NM_203446.3(SYNJ1):c.2702A>G (p.Lys901Arg)
|
|
|
NM_203446.3(SYNJ1):c.2704A>G (p.Ser902Gly)
|
|
|
NM_203446.3(SYNJ1):c.2708C>A (p.Ser903Tyr)
|
rs373328306
|
|
NM_203446.3(SYNJ1):c.2708C>G (p.Ser903Cys)
|
rs373328306
|
|
NM_203446.3(SYNJ1):c.2725T>C (p.Phe909Leu)
|
|
|
NM_203446.3(SYNJ1):c.2733T>C (p.Asp911=)
|
|
|
NM_203446.3(SYNJ1):c.2736T>C (p.Asp912=)
|
|
|
NM_203446.3(SYNJ1):c.2744T>G (p.Ile915Ser)
|
rs867564053
|
|
NM_203446.3(SYNJ1):c.274_276del (p.Glu92del)
|
|
|
NM_203446.3(SYNJ1):c.2757G>T (p.Leu919=)
|
rs2145850907
|
|
NM_203446.3(SYNJ1):c.2760G>C (p.Gln920His)
|
rs777815557
|
|
NM_203446.3(SYNJ1):c.2766T>C (p.Phe922=)
|
rs1479701930
|
|
NM_203446.3(SYNJ1):c.2774T>A (p.Phe925Tyr)
|
rs2145850802
|
|
NM_203446.3(SYNJ1):c.2777G>A (p.Gly926Asp)
|
rs2145850761
|
|
NM_203446.3(SYNJ1):c.2781A>G (p.Glu927=)
|
rs1350091132
|
|
NM_203446.3(SYNJ1):c.2785A>G (p.Ile929Val)
|
|
|
NM_203446.3(SYNJ1):c.2786T>G (p.Ile929Arg)
|
rs755258923
|
|
NM_203446.3(SYNJ1):c.2788_2793del (p.Leu930_Ile931del)
|
rs747135111
|
|
NM_203446.3(SYNJ1):c.2793A>G (p.Ile931Met)
|
rs2040469812
|
|
NM_203446.3(SYNJ1):c.2795+16T>C
|
|
|
NM_203446.3(SYNJ1):c.2795+20A>G
|
|
|
NM_203446.3(SYNJ1):c.2802A>G (p.Val934=)
|
rs1250410568
|
|
NM_203446.3(SYNJ1):c.2849A>G (p.Asn950Ser)
|
rs753487763
|
|
NM_203446.3(SYNJ1):c.2875-15_2875-14del
|
|
|
NM_203446.3(SYNJ1):c.2875-17C>G
|
|
|
NM_203446.3(SYNJ1):c.2877A>G (p.Leu959=)
|
|
|
NM_203446.3(SYNJ1):c.2896_2897del (p.Ile966fs)
|
|
|
NM_203446.3(SYNJ1):c.2897T>A (p.Ile966Asn)
|
|
|
NM_203446.3(SYNJ1):c.2900C>T (p.Ala967Val)
|
|
|
NM_203446.3(SYNJ1):c.2959A>G (p.Ser987Gly)
|
|
|
NM_203446.3(SYNJ1):c.295A>G (p.Thr99Ala)
|
rs1225677302
|
|
NM_203446.3(SYNJ1):c.295del (p.Thr99fs)
|
rs2146213651
|
|
NM_203446.3(SYNJ1):c.2977T>C (p.Ser993Pro)
|
|
|
NM_203446.3(SYNJ1):c.297T>C (p.Thr99=)
|
|
|
NM_203446.3(SYNJ1):c.2983A>C (p.Ser995Arg)
|
rs1370000213
|
|
NM_203446.3(SYNJ1):c.2991C>T (p.Thr997=)
|
|
|
NM_203446.3(SYNJ1):c.2994G>A (p.Leu998=)
|
rs2145809247
|
|
NM_203446.3(SYNJ1):c.3004G>C (p.Asp1002His)
|
rs772671612
|
|
NM_203446.3(SYNJ1):c.3008C>G (p.Ala1003Gly)
|
|
|
NM_203446.3(SYNJ1):c.300C>T (p.Ser100=)
|
|
|
NM_203446.3(SYNJ1):c.3015T>C (p.Val1005=)
|
rs2145809068
|
|
NM_203446.3(SYNJ1):c.3018A>G (p.Ala1006=)
|
|
|
NM_203446.3(SYNJ1):c.301A>T (p.Thr101Ser)
|
rs750481793
|
|
NM_203446.3(SYNJ1):c.3036A>C (p.Glu1012Asp)
|
rs2040223517
|
|
NM_203446.3(SYNJ1):c.3037+11_3037+12insGGAAGGTTTGTTTCTTTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNACTCGGGATCCTCCCGCCTCTGCCTCCCAATGAGCTGGGATTACAGGCGAGAGCCACGTCGCCCGGCC
|
rs2145808853
|
|
NM_203446.3(SYNJ1):c.3038-12G>A
|
|
|
NM_203446.3(SYNJ1):c.3054T>C (p.Tyr1018=)
|
|
|
NM_203446.3(SYNJ1):c.3057T>G (p.Ser1019Arg)
|
rs767760891
|
|
NM_203446.3(SYNJ1):c.3060T>A (p.Ala1020=)
|
|
|
NM_203446.3(SYNJ1):c.3088C>T (p.Leu1030Phe)
|
|
|
NM_203446.3(SYNJ1):c.3109G>A (p.Gly1037Ser)
|
|
|
NM_203446.3(SYNJ1):c.311T>C (p.Ile104Thr)
|
rs779426150
|
|
NM_203446.3(SYNJ1):c.3122C>G (p.Ser1041Cys)
|
|
|
NM_203446.3(SYNJ1):c.3124C>T (p.Pro1042Ser)
|
rs1361089216
|
|
NM_203446.3(SYNJ1):c.3126del (p.Ser1043fs)
|
rs1230133310
|
|
NM_203446.3(SYNJ1):c.313T>C (p.Ser105Pro)
|
rs1458389261
|
|
NM_203446.3(SYNJ1):c.3145_3147dup (p.Ser1049_Pro1050insSer)
|
rs2040075484
|
|
NM_203446.3(SYNJ1):c.3166A>C (p.Ile1056Leu)
|
rs1484714011
|
|
NM_203446.3(SYNJ1):c.3175G>A (p.Gly1059Ser)
|
rs2040073930
|
|
NM_203446.3(SYNJ1):c.3181G>C (p.Val1061Leu)
|
rs753032623
|
|
NM_203446.3(SYNJ1):c.319C>A (p.Arg107=)
|
|
|
NM_203446.3(SYNJ1):c.319C>T (p.Arg107Ter)
|
|
|
NM_203446.3(SYNJ1):c.3202C>G (p.Pro1068Ala)
|
rs1374696982
|
|
NM_203446.3(SYNJ1):c.3216G>A (p.Pro1072=)
|
|
|
NM_203446.3(SYNJ1):c.3237C>G (p.Pro1079=)
|
|
|
NM_203446.3(SYNJ1):c.3237C>T (p.Pro1079=)
|
|
|
NM_203446.3(SYNJ1):c.3246G>A (p.Gln1082=)
|
|
|
NM_203446.3(SYNJ1):c.3247+11del
|
|
|
NM_203446.3(SYNJ1):c.3247+2T>G
|
|
|
NM_203446.3(SYNJ1):c.3248-12T>C
|
|
|
NM_203446.3(SYNJ1):c.3248-15C>A
|
|
|
NM_203446.3(SYNJ1):c.3248-16_3248-14del
|
|
|
NM_203446.3(SYNJ1):c.3248-19C>T
|
rs2145777077
|
|
NM_203446.3(SYNJ1):c.3248-21_3248-19del
|
|
|
NM_203446.3(SYNJ1):c.3248-4T>C
|
|
|
NM_203446.3(SYNJ1):c.3248-6T>C
|
|
|
NM_203446.3(SYNJ1):c.3248-6T>G
|
rs567223330
|
|
NM_203446.3(SYNJ1):c.3248-9G>A
|
|
|
NM_203446.3(SYNJ1):c.3249T>G (p.Ser1083Arg)
|
rs1396229702
|
|
NM_203446.3(SYNJ1):c.3252T>G (p.Ser1084=)
|
|
|
NM_203446.3(SYNJ1):c.3257T>C (p.Ile1086Thr)
|
|
|
NM_203446.3(SYNJ1):c.3262G>A (p.Ala1088Thr)
|
|
|
NM_203446.3(SYNJ1):c.3263C>G (p.Ala1088Gly)
|
rs1381129608
|
|
NM_203446.3(SYNJ1):c.326A>T (p.Asp109Val)
|
rs764528223
|
|
NM_203446.3(SYNJ1):c.3270A>C (p.Pro1090=)
|
|
|
NM_203446.3(SYNJ1):c.3273A>G (p.Ala1091=)
|
|
|
NM_203446.3(SYNJ1):c.3275CGC[3] (p.Pro1093_Leu1094insPro)
|
rs2145776402
|
|
NM_203446.3(SYNJ1):c.3278C>T (p.Pro1093Leu)
|
rs1326671091
|
|
NM_203446.3(SYNJ1):c.3281_3286del (p.Leu1094_Pro1095del)
|
rs1283379982
|
|
NM_203446.3(SYNJ1):c.3284C>T (p.Pro1095Leu)
|
|
|
NM_203446.3(SYNJ1):c.3285G>A (p.Pro1095=)
|
rs376395608
|
|
NM_203446.3(SYNJ1):c.3285G>T (p.Pro1095=)
|
rs376395608
|
|
NM_203446.3(SYNJ1):c.3287A>G (p.Gln1096Arg)
|
rs979154699
|
|
NM_203446.3(SYNJ1):c.3290A>G (p.Lys1097Arg)
|
rs946267411
|
|
NM_203446.3(SYNJ1):c.3296C>T (p.Pro1099Leu)
|
rs1447192933
|
|
NM_203446.3(SYNJ1):c.3303G>A (p.Gln1101=)
|
|
|
NM_203446.3(SYNJ1):c.3304C>G (p.Pro1102Ala)
|
|
|
NM_203446.3(SYNJ1):c.3323C>T (p.Pro1108Leu)
|
|
|
NM_203446.3(SYNJ1):c.3352A>G (p.Thr1118Ala)
|
rs1189796802
|
|
NM_203446.3(SYNJ1):c.3355C>A (p.Arg1119Ser)
|
rs1157846436
|
|
NM_203446.3(SYNJ1):c.3355C>T (p.Arg1119Cys)
|
rs1157846436
|
|
NM_203446.3(SYNJ1):c.3357C>T (p.Arg1119=)
|
rs1601259728
|
|
NM_203446.3(SYNJ1):c.3359C>T (p.Pro1120Leu)
|
rs773242399
|
|
NM_203446.3(SYNJ1):c.3360G>A (p.Pro1120=)
|
|
|
NM_203446.3(SYNJ1):c.3363T>C (p.Ala1121=)
|
|
|
NM_203446.3(SYNJ1):c.3368C>A (p.Pro1123Gln)
|
rs748154988
|
|
NM_203446.3(SYNJ1):c.3369A>C (p.Pro1123=)
|
rs368850131
|
|
NM_203446.3(SYNJ1):c.3376C>A (p.Pro1126Thr)
|
rs1485482944
|
|
NM_203446.3(SYNJ1):c.3378TCC[1] (p.Pro1129del)
|
rs2145775202
|
|
NM_203446.3(SYNJ1):c.3383C>G (p.Pro1128Arg)
|
|
|
NM_203446.3(SYNJ1):c.3391+8C>T
|
rs779010105
|
|
NM_203446.3(SYNJ1):c.3392-10G>C
|
rs2145769480
|
|
NM_203446.3(SYNJ1):c.3392-12A>G
|
|
|
NM_203446.3(SYNJ1):c.3392-13T>C
|
|
|
NM_203446.3(SYNJ1):c.3392-4T>C
|
|
|
NM_203446.3(SYNJ1):c.3392-5A>T
|
rs776721216
|
|
NM_203446.3(SYNJ1):c.3393G>A (p.Gly1131=)
|
rs1057304410
|
|
NM_203446.3(SYNJ1):c.3394G>T (p.Ala1132Ser)
|
|
|
NM_203446.3(SYNJ1):c.3396T>C (p.Ala1132=)
|
rs1220663745
|
|
NM_203446.3(SYNJ1):c.33C>G (p.His11Gln)
|
rs750372776
|
|
NM_203446.3(SYNJ1):c.3409C>T (p.Pro1137Ser)
|
rs1461988082
|
|
NM_203446.3(SYNJ1):c.3411C>T (p.Pro1137=)
|
rs1162976890
|
|
NM_203446.3(SYNJ1):c.3430+1G>A
|
rs2145769010
|
|
NM_203446.3(SYNJ1):c.3431-11del
|
|
|
NM_203446.3(SYNJ1):c.3431-6A>G
|
rs1017765033
|
|
NM_203446.3(SYNJ1):c.3438dup (p.Ala1147fs)
|
rs2145756643
|
|
NM_203446.3(SYNJ1):c.3439G>A (p.Ala1147Thr)
|
|
|
NM_203446.3(SYNJ1):c.3440C>T (p.Ala1147Val)
|
|
|
NM_203446.3(SYNJ1):c.3448A>C (p.Ser1150Arg)
|
rs373387769
|
|
NM_203446.3(SYNJ1):c.344G>A (p.Arg115His)
|
rs951976946
|
|
NM_203446.3(SYNJ1):c.344G>T (p.Arg115Leu)
|
rs951976946
|
|
NM_203446.3(SYNJ1):c.3456G>C (p.Gly1152=)
|
rs2145756410
|
|
NM_203446.3(SYNJ1):c.3457del (p.Gly1152_Val1153insTer)
|
rs2039933328
|
|
NM_203446.3(SYNJ1):c.3459A>G (p.Val1153=)
|
|
|
NM_203446.3(SYNJ1):c.345C>T (p.Arg115=)
|
|
|
NM_203446.3(SYNJ1):c.345del (p.Ile116fs)
|
rs2146213143
|
|
NM_203446.3(SYNJ1):c.3463A>G (p.Arg1155Gly)
|
|
|
NM_203446.3(SYNJ1):c.3474G>A (p.Met1158Ile)
|
|
|
NM_203446.3(SYNJ1):c.3476A>T (p.Glu1159Val)
|
rs2039931880
|
|
NM_203446.3(SYNJ1):c.3477A>C (p.Glu1159Asp)
|
|
|
NM_203446.3(SYNJ1):c.3478+12C>T
|
rs2145756030
|
|
NM_203446.3(SYNJ1):c.3478+13T>C
|
|
|
NM_203446.3(SYNJ1):c.3478+16C>G
|
|
|
NM_203446.3(SYNJ1):c.3478+17A>G
|
|
|
NM_203446.3(SYNJ1):c.3478+1G>A
|
rs1085307987
|
|
NM_203446.3(SYNJ1):c.3478+9A>T
|
|
|
NM_203446.3(SYNJ1):c.3479-14T>C
|
rs2039869790
|
|
NM_203446.3(SYNJ1):c.3479-18T>C
|
|
|
NM_203446.3(SYNJ1):c.3479-18del
|
rs555916409
|
|
NM_203446.3(SYNJ1):c.3479-18dup
|
|
|
NM_203446.3(SYNJ1):c.3484A>G (p.Lys1162Glu)
|
|
|
NM_203446.3(SYNJ1):c.3489C>T (p.Ser1163=)
|
rs2039868331
|
|
NM_203446.3(SYNJ1):c.3490C>T (p.Pro1164Ser)
|
rs773329386
|
|
NM_203446.3(SYNJ1):c.3497C>G (p.Thr1166Arg)
|
|
|
NM_203446.3(SYNJ1):c.3507A>G (p.Lys1169=)
|
|
|
NM_203446.3(SYNJ1):c.3515T>C (p.Ile1172Thr)
|
|
|
NM_203446.3(SYNJ1):c.3517+6A>C
|
rs2039866076
|
|
NM_203446.3(SYNJ1):c.3517+7A>G
|
rs2145744971
|
|
NM_203446.3(SYNJ1):c.3518-18A>G
|
|
|
NM_203446.3(SYNJ1):c.3518-20A>G
|
|
|
NM_203446.3(SYNJ1):c.3518-9T>C
|
rs2039859473
|
|
NM_203446.3(SYNJ1):c.3524G>C (p.Ser1175Thr)
|
rs994115947
|
|
NM_203446.3(SYNJ1):c.3547C>G (p.Leu1183Val)
|
rs2039857400
|
|
NM_203446.3(SYNJ1):c.3551_3552insGCA (p.Ala1184_Gly1185insGln)
|
rs779358822
|
|
NM_203446.3(SYNJ1):c.3554G>A (p.Gly1185Asp)
|
rs1569030684
|
|
NM_203446.3(SYNJ1):c.3558A>T (p.Pro1186=)
|
rs755614050
|
|
NM_203446.3(SYNJ1):c.3560G>A (p.Gly1187Glu)
|
rs1601244421
|
|
NM_203446.3(SYNJ1):c.3568G>A (p.Gly1190Arg)
|
rs2145743118
|
|
NM_203446.3(SYNJ1):c.356T>C (p.Val119Ala)
|
rs2042341669
|
|
NM_203446.3(SYNJ1):c.3572A>T (p.Tyr1191Phe)
|
rs923063240
|
|
NM_203446.3(SYNJ1):c.3575G>T (p.Ser1192Ile)
|
rs780730508
|
|
NM_203446.3(SYNJ1):c.3578C>G (p.Thr1193Arg)
|
rs1308363849
|
|
NM_203446.3(SYNJ1):c.3585A>G (p.Arg1195=)
|
rs1404447301
|
|
NM_203446.3(SYNJ1):c.3587C>A (p.Pro1196Gln)
|
rs61752550
|
|
NM_203446.3(SYNJ1):c.3587C>G (p.Pro1196Arg)
|
rs61752550
|
|
NM_203446.3(SYNJ1):c.3588+15G>C
|
|
|
NM_203446.3(SYNJ1):c.3588+7A>G
|
rs990106590
|
|
NM_203446.3(SYNJ1):c.3588G>A (p.Pro1196=)
|
rs1160685381
|
|
NM_203446.3(SYNJ1):c.3589-16T>C
|
rs369384628
|
|
NM_203446.3(SYNJ1):c.3589-16T>G
|
rs369384628
|
|
NM_203446.3(SYNJ1):c.3589-17dup
|
|
|
NM_203446.3(SYNJ1):c.3589-1G>A
|
|
|
NM_203446.3(SYNJ1):c.3589-3T>A
|
|
|
NM_203446.3(SYNJ1):c.3589-4G>A
|
|
|
NM_203446.3(SYNJ1):c.3589-8A>T
|
rs2145726735
|
|
NM_203446.3(SYNJ1):c.35A>G (p.Lys12Arg)
|
rs2043479501
|
|
NM_203446.3(SYNJ1):c.3601C>G (p.Arg1201Gly)
|
rs114994257
|
|
NM_203446.3(SYNJ1):c.3607G>A (p.Gly1203Arg)
|
rs2145726317
|
|
NM_203446.3(SYNJ1):c.3610G>A (p.Val1204Ile)
|
rs1569027714
|
|
NM_203446.3(SYNJ1):c.3617G>A (p.Ser1206Asn)
|
|
|
NM_203446.3(SYNJ1):c.3626A>G (p.Gln1209Arg)
|
|
|
NM_203446.3(SYNJ1):c.3632A>G (p.His1211Arg)
|
|
|
NM_203446.3(SYNJ1):c.3637C>G (p.Arg1213Gly)
|
rs779662077
|
|
NM_203446.3(SYNJ1):c.3637C>T (p.Arg1213Trp)
|
rs779662077
|
|
NM_203446.3(SYNJ1):c.3656dup (p.Thr1220fs)
|
|
|
NM_203446.3(SYNJ1):c.3657G>A (p.Leu1219=)
|
|
|
NM_203446.3(SYNJ1):c.3663T>G (p.Pro1221=)
|
|
|
NM_203446.3(SYNJ1):c.3665A>G (p.Glu1222Gly)
|
rs2145725689
|
|
NM_203446.3(SYNJ1):c.3673A>T (p.Ser1225Cys)
|
rs2039744699
|
|
NM_203446.3(SYNJ1):c.3675C>G (p.Ser1225Arg)
|
rs2145725639
|
|
NM_203446.3(SYNJ1):c.3688A>C (p.Thr1230Pro)
|
rs2039743427
|
|
NM_203446.3(SYNJ1):c.3690G>A (p.Thr1230=)
|
rs1446522492
|
|
NM_203446.3(SYNJ1):c.3697+15G>A
|
|
|
NM_203446.3(SYNJ1):c.3697+8C>T
|
rs2145725329
|
|
NM_203446.3(SYNJ1):c.3698-12C>T
|
|
|
NM_203446.3(SYNJ1):c.3698-13A>G
|
|
|
NM_203446.3(SYNJ1):c.3698-15C>T
|
|
|
NM_203446.3(SYNJ1):c.3698-19A>G
|
|
|
NM_203446.3(SYNJ1):c.3698-3del
|
|
|
NM_203446.3(SYNJ1):c.3698G>A (p.Gly1233Asp)
|
|
|
NM_203446.3(SYNJ1):c.3709C>T (p.Leu1237Phe)
|
|
|
NM_203446.3(SYNJ1):c.3714T>G (p.Pro1238=)
|
rs2145720898
|
|
NM_203446.3(SYNJ1):c.3721C>A (p.Leu1241Met)
|
rs2230766
|
|
NM_203446.3(SYNJ1):c.3733G>A (p.Ala1245Thr)
|
|
|
NM_203446.3(SYNJ1):c.3747G>A (p.Pro1249=)
|
rs138579227
|
|
NM_203446.3(SYNJ1):c.3747G>C (p.Pro1249=)
|
|
|
NM_203446.3(SYNJ1):c.3747G>T (p.Pro1249=)
|
rs138579227
|
|
NM_203446.3(SYNJ1):c.3749A>T (p.Gln1250Leu)
|
rs1433204750
|
|
NM_203446.3(SYNJ1):c.3756T>C (p.Ser1252=)
|
|
|
NM_203446.3(SYNJ1):c.3770C>G (p.Ala1257Gly)
|
rs780163347
|
|
NM_203446.3(SYNJ1):c.3780G>T (p.Leu1260Phe)
|
rs758900160
|
|
NM_203446.3(SYNJ1):c.3783A>G (p.Gln1261=)
|
rs1601231568
|
|
NM_203446.3(SYNJ1):c.3788C>G (p.Pro1263Arg)
|
rs757637208
|
|
NM_203446.3(SYNJ1):c.3796C>T (p.Pro1266Ser)
|
rs2039706224
|
|
NM_203446.3(SYNJ1):c.3803C>T (p.Ala1268Val)
|
rs1601231363
|
|
NM_203446.3(SYNJ1):c.3806C>G (p.Ala1269Gly)
|
rs2039705571
|
|
NM_203446.3(SYNJ1):c.3823G>A (p.Gly1275Ser)
|
rs1601231173
|
|
NM_203446.3(SYNJ1):c.3824G>A (p.Gly1275Asp)
|
|
|
NM_203446.3(SYNJ1):c.3827C>G (p.Pro1276Arg)
|
rs375902516
|
|
NM_203446.3(SYNJ1):c.3829dup (p.Gln1277fs)
|
rs1555888341
|
|
NM_203446.3(SYNJ1):c.3832C>A (p.Pro1278Thr)
|
rs371076175
|
|
NM_203446.3(SYNJ1):c.3837T>A (p.Asn1279Lys)
|
rs1555888329
|
|
NM_203446.3(SYNJ1):c.3846C>G (p.Thr1282=)
|
|
|
NM_203446.3(SYNJ1):c.3866G>A (p.Arg1289Gln)
|
|
|
NM_203446.3(SYNJ1):c.3866G>C (p.Arg1289Pro)
|
rs780038881
|
|
NM_203446.3(SYNJ1):c.3873G>T (p.Arg1291Ser)
|
rs141669628
|
|
NM_203446.3(SYNJ1):c.3879C>G (p.Ser1293=)
|
rs1601230798
|
|
NM_203446.3(SYNJ1):c.387T>C (p.Tyr129=)
|
rs2042340576
|
|
NM_203446.3(SYNJ1):c.3880C>T (p.His1294Tyr)
|
|
|
NM_203446.3(SYNJ1):c.3882T>G (p.His1294Gln)
|
rs1569025711
|
|
NM_203446.3(SYNJ1):c.3912G>A (p.Pro1304=)
|
rs372695378
|
|
NM_203446.3(SYNJ1):c.3912G>T (p.Pro1304=)
|
rs372695378
|
|
NM_203446.3(SYNJ1):c.3915+18C>A
|
|
|
NM_203446.3(SYNJ1):c.3915+20C>G
|
|
|
NM_203446.3(SYNJ1):c.3915+20C>T
|
|
|
NM_203446.3(SYNJ1):c.3915+5G>A
|
rs61750220
|
|
NM_203446.3(SYNJ1):c.3915+7C>G
|
rs2145719045
|
|
NM_203446.3(SYNJ1):c.393A>G (p.Ala131=)
|
|
|
NM_203446.3(SYNJ1):c.395G>A (p.Trp132Ter)
|
rs1555907463
|
|
NM_203446.3(SYNJ1):c.406G>A (p.Gly136Ser)
|
rs2146212752
|
|
NM_203446.3(SYNJ1):c.425G>A (p.Ser142Asn)
|
rs2146212631
|
|
NM_203446.3(SYNJ1):c.429T>C (p.Leu143=)
|
rs2146212579
|
|
NM_203446.3(SYNJ1):c.431A>C (p.Asn144Thr)
|
rs1333594220
|
|
NM_203446.3(SYNJ1):c.434C>G (p.Ala145Gly)
|
rs111886678
|
|
NM_203446.3(SYNJ1):c.435G>T (p.Ala145=)
|
rs151248057
|
|
NM_203446.3(SYNJ1):c.443G>A (p.Ser148Asn)
|
rs2042337641
|
|
NM_203446.3(SYNJ1):c.447G>T (p.Met149Ile)
|
rs2146212303
|
|
NM_203446.3(SYNJ1):c.450A>G (p.Gln150=)
|
|
|
NM_203446.3(SYNJ1):c.453A>G (p.Glu151=)
|
|
|
NM_203446.3(SYNJ1):c.455A>G (p.Gln152Arg)
|
rs766091867
|
|
NM_203446.3(SYNJ1):c.463G>A (p.Asp155Asn)
|
rs2146212159
|
|
NM_203446.3(SYNJ1):c.46C>T (p.Pro16Ser)
|
rs1487423508
|
|
NM_203446.3(SYNJ1):c.479+13T>A
|
rs1684291610
|
|
NM_203446.3(SYNJ1):c.479+17C>T
|
|
|
NM_203446.3(SYNJ1):c.480-18T>A
|
|
|
NM_203446.3(SYNJ1):c.480-5A>G
|
rs1001176616
|
|
NM_203446.3(SYNJ1):c.494A>G (p.His165Arg)
|
rs2042161467
|
|
NM_203446.3(SYNJ1):c.4G>A (p.Ala2Thr)
|
rs2043481026
|
|
NM_203446.3(SYNJ1):c.515G>A (p.Gly172Asp)
|
|
|
NM_203446.3(SYNJ1):c.516C>T (p.Gly172=)
|
|
|
NM_203446.3(SYNJ1):c.528T>A (p.Asp176Glu)
|
rs1277503442
|
|
NM_203446.3(SYNJ1):c.537A>G (p.Leu179=)
|
rs2146174688
|
|
NM_203446.3(SYNJ1):c.53T>A (p.Phe18Tyr)
|
rs2043478146
|
|
NM_203446.3(SYNJ1):c.540A>G (p.Leu180=)
|
|
|
NM_203446.3(SYNJ1):c.549G>T (p.Met183Ile)
|
rs760573856
|
|
NM_203446.3(SYNJ1):c.552T>C (p.Cys184=)
|
|
|
NM_203446.3(SYNJ1):c.559G>A (p.Val187Ile)
|
rs2146174430
|
|
NM_203446.3(SYNJ1):c.561A>G (p.Val187=)
|
|
|
NM_203446.3(SYNJ1):c.574A>G (p.Ile192Val)
|
rs2042159051
|
|
NM_203446.3(SYNJ1):c.576T>A (p.Ile192=)
|
|
|
NM_203446.3(SYNJ1):c.577T>C (p.Tyr193His)
|
rs2042158818
|
|
NM_203446.3(SYNJ1):c.58C>T (p.Leu20Phe)
|
|
|
NM_203446.3(SYNJ1):c.594G>C (p.Gln198His)
|
|
|
NM_203446.3(SYNJ1):c.596C>T (p.Ala199Val)
|
|
|
NM_203446.3(SYNJ1):c.601G>C (p.Ala201Pro)
|
rs371958110
|
|
NM_203446.3(SYNJ1):c.609C>T (p.Leu203=)
|
|
|
NM_203446.3(SYNJ1):c.622A>G (p.Ser208Gly)
|
rs1601449471
|
|
NM_203446.3(SYNJ1):c.63A>G (p.Ile21Met)
|
rs759604797
|
|
NM_203446.3(SYNJ1):c.63A>T (p.Ile21=)
|
|
|
NM_203446.3(SYNJ1):c.652G>A (p.Val218Ile)
|
rs2146173743
|
|
NM_203446.3(SYNJ1):c.654C>G (p.Val218=)
|
|
|
NM_203446.3(SYNJ1):c.655C>T (p.Arg219Trp)
|
|
|
NM_203446.3(SYNJ1):c.686A>G (p.Asn229Ser)
|
|
|
NM_203446.3(SYNJ1):c.690T>G (p.Phe230Leu)
|
rs1382349474
|
|
NM_203446.3(SYNJ1):c.691G>T (p.Val231Leu)
|
rs2042154653
|
|
NM_203446.3(SYNJ1):c.702A>G (p.Glu234=)
|
|
|
NM_203446.3(SYNJ1):c.705+8T>C
|
|
|
NM_203446.3(SYNJ1):c.705+9A>G
|
rs2042154034
|
|
NM_203446.3(SYNJ1):c.706-13T>A
|
|
|
NM_203446.3(SYNJ1):c.706-15T>C
|
|
|
NM_203446.3(SYNJ1):c.706-16del
|
|
|
NM_203446.3(SYNJ1):c.706-7del
|
rs202044634
|
|
NM_203446.3(SYNJ1):c.706-7dup
|
rs202044634
|
|
NM_203446.3(SYNJ1):c.721G>A (p.Asp241Asn)
|
|
|
NM_203446.3(SYNJ1):c.748C>T (p.Arg250Ter)
|
rs1160469053
|
|
NM_203446.3(SYNJ1):c.749G>A (p.Arg250Gln)
|
rs762909719
|
|
NM_203446.3(SYNJ1):c.750A>G (p.Arg250=)
|
|
|
NM_203446.3(SYNJ1):c.759T>G (p.Val253=)
|
rs111290161
|
|
NM_203446.3(SYNJ1):c.762A>G (p.Pro254=)
|
rs2146165828
|
|
NM_203446.3(SYNJ1):c.768C>G (p.Phe256Leu)
|
rs1456955061
|
|
NM_203446.3(SYNJ1):c.783G>A (p.Gly261=)
|
|
|
NM_203446.3(SYNJ1):c.786G>T (p.Leu262Phe)
|
rs2146165594
|
|
NM_203446.3(SYNJ1):c.789+10T>C
|
rs1601446146
|
|
NM_203446.3(SYNJ1):c.789+1G>A
|
rs2042124608
|
|
NM_203446.3(SYNJ1):c.789+20T>C
|
|
|
NM_203446.3(SYNJ1):c.789+4T>A
|
rs2146165562
|
|
NM_203446.3(SYNJ1):c.789+8_789+11del
|
rs751922511
|
|
NM_203446.3(SYNJ1):c.790-14T>G
|
|
|
NM_203446.3(SYNJ1):c.790-6T>G
|
rs2041904445
|
|
NM_203446.3(SYNJ1):c.7T>C (p.Phe3Leu)
|
|
|
NM_203446.3(SYNJ1):c.802C>T (p.Arg268Cys)
|
rs2146108619
|
|
NM_203446.3(SYNJ1):c.807C>G (p.Val269=)
|
|
|
NM_203446.3(SYNJ1):c.809G>A (p.Arg270His)
|
rs532075408
|
|
NM_203446.3(SYNJ1):c.809G>T (p.Arg270Leu)
|
rs532075408
|
|
NM_203446.3(SYNJ1):c.841G>C (p.Ala281Pro)
|
rs2041902084
|
|
NM_203446.3(SYNJ1):c.842C>G (p.Ala281Gly)
|
rs1046699971
|
|
NM_203446.3(SYNJ1):c.846T>G (p.Phe282Leu)
|
rs1461469693
|
|
NM_203446.3(SYNJ1):c.851+10T>C
|
rs745840084
|
|
NM_203446.3(SYNJ1):c.851+15A>G
|
|
|
NM_203446.3(SYNJ1):c.851G>A (p.Arg284Lys)
|
rs565013600
|
|
NM_203446.3(SYNJ1):c.852-10_852-7del
|
rs764989740
|
|
NM_203446.3(SYNJ1):c.852-16T>C
|
|
|
NM_203446.3(SYNJ1):c.852-20T>C
|
rs1436283724
|
|
NM_203446.3(SYNJ1):c.864A>G (p.Thr288=)
|
|
|
NM_203446.3(SYNJ1):c.868A>G (p.Lys290Glu)
|
rs2146099258
|
|
NM_203446.3(SYNJ1):c.876A>G (p.Leu292=)
|
|
|
NM_203446.3(SYNJ1):c.883A>C (p.Lys295Gln)
|
rs554456240
|
|
NM_203446.3(SYNJ1):c.887A>G (p.Gln296Arg)
|
rs2041858912
|
|
NM_203446.3(SYNJ1):c.901T>A (p.Leu301Met)
|
|
|
NM_203446.3(SYNJ1):c.914A>C (p.Lys305Thr)
|
rs2146098903
|
|
NM_203446.3(SYNJ1):c.918A>G (p.Glu306=)
|
|
|
NM_203446.3(SYNJ1):c.924A>G (p.Glu308=)
|
rs2041857984
|
|
NM_203446.3(SYNJ1):c.942T>G (p.Ala314=)
|
|
|
NM_203446.3(SYNJ1):c.948G>C (p.Gln316His)
|
rs1569093889
|
|
NM_203446.3(SYNJ1):c.949-15C>T
|
rs371013716
|
|
NM_203446.3(SYNJ1):c.949-31_949-2del
|
rs1281313151
|
|
NM_203446.3(SYNJ1):c.949-7C>T
|
|
|
NM_203446.3(SYNJ1):c.949-9del
|
rs776238595
|
|
NM_203446.3(SYNJ1):c.952C>A (p.His318Asn)
|
rs2041822657
|
|
NM_203446.3(SYNJ1):c.969A>G (p.Glu323=)
|
rs1601418926
|
|
NM_203446.3(SYNJ1):c.976G>T (p.Ala326Ser)
|
rs2146090569
|
|
NM_203446.3(SYNJ1):c.983T>C (p.Ile328Thr)
|
|
|
NM_203446.3(SYNJ1):c.99C>G (p.Phe33Leu)
|
rs746651449
|
|
NR_002717.2(ATXN8OS):n.1103CTG[(107_127)]
|
|
|
NUBPL, 240-KB DEL AND 130-KB DUP
|
|
|
Single allele
|
|
|
TAF1, SVA RETROTRANSPOSON INSERTION
|
|
|
m.12397A>G
|
rs1556424100
|
|
m.14319T>C
|
rs199476110
|
|
m.15950G>A
|
rs118203890
|
|
m.15965A>G
|
rs199474700
|
|
m.3397A>G
|
rs199476120
|
|
m.8344A>G
|
rs118192098
|
|
nsv1067840
|
|
|
nsv513788
|
|
|