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_198578.4(LRRK2):c.867= (p.Asn289=)
|
rs17490713
|
0.98818
|
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_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_198578.4(LRRK2):c.4872C>A (p.Gly1624=)
|
rs1427263
|
0.70218
|
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_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_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_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_198578.4(LRRK2):c.7190= (p.Met2397=)
|
rs3761863
|
0.38176
|
NM_004562.3(PRKN):c.*2480C>A
|
rs68121389
|
0.37695
|
NM_198578.4(LRRK2):c.1102-10C>A
|
rs7955902
|
0.31995
|
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_001256864.2(DNAJC6):c.544-9C>T
|
rs2296481
|
0.25003
|
NM_022089.4(ATP13A2):c.3084-3C>T
|
rs7531163
|
0.23688
|
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_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_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_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_198578.4(LRRK2):c.1653C>G (p.Asn551Lys)
|
rs7308720
|
0.10004
|
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_001103146.3(GIGYF2):c.1554G>A (p.Glu518=)
|
rs2305138
|
0.07960
|
NM_203446.3(SYNJ1):c.3721C>T (p.Leu1241=)
|
rs2230766
|
0.07370
|
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_019851.3(FGF20):c.*182C>T
|
rs12720208
|
0.05484
|
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_000345.4(SNCA):c.*501C>T
|
rs17016074
|
0.04776
|
NM_198578.4(LRRK2):c.2167A>G (p.Ile723Val)
|
rs10878307
|
0.04677
|
NM_032409.3(PINK1):c.1018G>A (p.Ala340Thr)
|
rs3738136
|
0.04637
|
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_004562.3(PRKN):c.*2492A>G
|
rs117341007
|
0.04051
|
NM_022089.4(ATP13A2):c.1005C>T (p.Ala335=)
|
rs56290406
|
0.04044
|
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_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_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_004562.3(PRKN):c.1180G>A (p.Asp394Asn)
|
rs1801334
|
0.02570
|
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_032409.3(PINK1):c.*490A>C
|
rs16824318
|
0.02268
|
NM_032603.5(LOXL3):c.*237G>T
|
rs71640295
|
0.02253
|
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_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_004562.3(PRKN):c.*1695G>A
|
rs77283740
|
0.01596
|
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_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_198578.4(LRRK2):c.5509+20A>C
|
rs11564134
|
0.01309
|
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_032409.3(PINK1):c.1426G>A (p.Glu476Lys)
|
rs115477764
|
0.01222
|
NM_004562.3(PRKN):c.*1694C>T
|
rs16892481
|
0.01212
|
NM_022089.4(ATP13A2):c.881G>A (p.Arg294Gln)
|
rs56367069
|
0.01203
|
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_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_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_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_000157.4(GBA1):c.762-18T>A
|
rs140335079
|
0.00896
|
NM_020821.3(VPS13C):c.1929A>C (p.Ala643=)
|
rs115871350
|
0.00801
|
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_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_012179.4(FBXO7):c.1125A>G (p.Leu375=)
|
rs147911892
|
0.00660
|
NM_022089.4(ATP13A2):c.3430G>A (p.Ala1144Thr)
|
rs151181674
|
0.00646
|
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_004562.3(PRKN):c.*2475A>C
|
rs868117815
|
0.00611
|
NM_203446.3(SYNJ1):c.*611C>T
|
rs76056543
|
0.00609
|
NM_022089.4(ATP13A2):c.1195+10G>A
|
rs55689004
|
0.00585
|
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_198578.4(LRRK2):c.4541G>A (p.Arg1514Gln)
|
rs35507033
|
0.00526
|
NM_022089.4(ATP13A2):c.*140C>G
|
rs557545457
|
0.00509
|
NM_022089.4(ATP13A2):c.453C>T (p.Ser151=)
|
rs55979991
|
0.00505
|
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_203446.3(SYNJ1):c.1119-8G>T
|
rs138882423
|
0.00462
|
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_022089.4(ATP13A2):c.*120A>T
|
rs41273151
|
0.00422
|
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_015268.4(DNAJC13):c.3872A>G (p.Glu1291Gly)
|
rs61748101
|
0.00396
|
NM_004181.5(UCHL1):c.*294G>A
|
rs116700032
|
0.00381
|
NM_032409.3(PINK1):c.948C>T (p.Leu316=)
|
rs142183624
|
0.00363
|
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_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_006186.4(NR4A2):c.*352C>A
|
rs115393922
|
0.00316
|
NM_004562.3(PRKN):c.*2194G>A
|
rs149239597
|
0.00310
|
NM_004562.3(PRKN):c.101A>G (p.Gln34Arg)
|
rs148851677
|
0.00303
|
NM_198578.4(LRRK2):c.*1181C>T
|
rs147956597
|
0.00296
|
NM_198578.4(LRRK2):c.5163A>G (p.Ser1721=)
|
rs79909111
|
0.00293
|
NM_203446.3(SYNJ1):c.*728C>T
|
rs2230767
|
0.00284
|
NM_012179.4(FBXO7):c.693C>T (p.Ser231=)
|
rs61752254
|
0.00283
|
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_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_032409.3(PINK1):c.*807T>C
|
rs78349864
|
0.00250
|
NM_203446.3(SYNJ1):c.2943G>T (p.Met981Ile)
|
rs115683257
|
0.00245
|
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_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_203446.3(SYNJ1):c.1546G>A (p.Val516Ile)
|
rs113708828
|
0.00230
|
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_022089.4(ATP13A2):c.*130C>T
|
rs189334432
|
0.00217
|
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_000157.4(GBA1):c.1226A>G (p.Asn409Ser)
|
rs76763715
|
0.00191
|
NM_004562.3(PRKN):c.1204C>T (p.Arg402Cys)
|
rs55830907
|
0.00191
|
NM_203446.3(SYNJ1):c.3369A>G (p.Pro1123=)
|
rs368850131
|
0.00183
|
NM_001256864.2(DNAJC6):c.996-9T>C
|
rs187965193
|
0.00178
|
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_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_032409.3(PINK1):c.1231G>A (p.Gly411Ser)
|
rs45478900
|
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_198578.4(LRRK2):c.736A>C (p.Asn246His)
|
rs150050676
|
0.00141
|
NM_198578.4(LRRK2):c.356T>C (p.Leu119Pro)
|
rs33995463
|
0.00140
|
NM_203446.3(SYNJ1):c.*223A>G
|
rs113978322
|
0.00139
|
NM_198578.4(LRRK2):c.1740A>T (p.Leu580Phe)
|
rs145906734
|
0.00132
|
NM_022089.4(ATP13A2):c.706-14C>T
|
rs371532404
|
0.00128
|
NM_022089.4(ATP13A2):c.2859G>A (p.Thr953=)
|
rs144557304
|
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_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_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_004562.3(PRKN):c.522C>T (p.Leu174=)
|
rs147121590
|
0.00115
|
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_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_198578.4(LRRK2):c.3777+7C>T
|
rs41286480
|
0.00097
|
NM_000157.4(GBA1):c.1473C>T (p.Pro491=)
|
rs149257166
|
0.00094
|
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_022089.4(ATP13A2):c.841-4A>G
|
rs112549590
|
0.00090
|
NM_203446.3(SYNJ1):c.2346G>A (p.Pro782=)
|
rs61753644
|
0.00088
|
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_004181.5(UCHL1):c.370A>C (p.Met124Leu)
|
rs150601238
|
0.00081
|
NM_022089.4(ATP13A2):c.1309C>G (p.Leu437Val)
|
rs149372969
|
0.00081
|
NM_018206.6(VPS35):c.*422C>A
|
rs181198454
|
0.00079
|
NM_001256864.2(DNAJC6):c.1266A>T (p.Leu422=)
|
rs61758427
|
0.00078
|
NM_013247.5(HTRA2):c.627A>G (p.Arg209=)
|
rs149169879
|
0.00078
|
NM_001256864.2(DNAJC6):c.2451T>G (p.Pro817=)
|
rs61733018
|
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_022089.4(ATP13A2):c.3529G>A (p.Gly1177Ser)
|
rs547860186
|
0.00072
|
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_203446.3(SYNJ1):c.*732C>T
|
rs148676465
|
0.00068
|
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_203446.3(SYNJ1):c.*552G>A
|
rs146425050
|
0.00064
|
NM_002693.3(POLG):c.3131T>C (p.Val1044Ala)
|
rs150233690
|
0.00062
|
NM_007262.5(PARK7):c.446A>C (p.Asp149Ala)
|
rs74315352
|
0.00061
|
NM_198578.4(LRRK2):c.5606T>C (p.Met1869Thr)
|
rs35602796
|
0.00060
|
NM_198578.4(LRRK2):c.7153G>A (p.Gly2385Arg)
|
rs34778348
|
0.00058
|
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_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_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_013247.5(HTRA2):c.510C>T (p.His170=)
|
rs200747610
|
0.00053
|
NM_018206.6(VPS35):c.2145A>G (p.Leu715=)
|
rs145033509
|
0.00052
|
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_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_004562.3(PRKN):c.766C>T (p.Arg256Cys)
|
rs150562946
|
0.00046
|
NM_032409.3(PINK1):c.1147G>A (p.Ala383Thr)
|
rs45515602
|
0.00046
|
NM_001256864.2(DNAJC6):c.829G>A (p.Ala277Thr)
|
rs146050826
|
0.00045
|
NM_022089.4(ATP13A2):c.3235+20C>T
|
rs376475762
|
0.00044
|
NM_022089.4(ATP13A2):c.746C>T (p.Ala249Val)
|
rs145515028
|
0.00044
|
NM_022089.4(ATP13A2):c.2160G>T (p.Gly720=)
|
rs61999317
|
0.00043
|
NM_004562.3(PRKN):c.-42T>C
|
rs112850281
|
0.00042
|
NM_181575.5(AUP1):c.-17C>T
|
rs757541077
|
0.00041
|
NM_198578.4(LRRK2):c.825T>C (p.His275=)
|
rs72546315
|
0.00041
|
NM_003560.4(PLA2G6):c.101C>T (p.Ser34Leu)
|
rs147948449
|
0.00040
|
NM_203446.3(SYNJ1):c.705+7A>G
|
rs187016397
|
0.00040
|
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_004562.3(PRKN):c.535-9T>A
|
rs201039350
|
0.00038
|
NM_198578.4(LRRK2):c.2481T>C (p.Ser827=)
|
rs76890302
|
0.00038
|
NM_022089.4(ATP13A2):c.2020G>A (p.Ala674Thr)
|
rs143834546
|
0.00037
|
NM_203446.3(SYNJ1):c.*443G>A
|
rs532034867
|
0.00037
|
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_198578.4(LRRK2):c.6055G>A (p.Gly2019Ser)
|
rs34637584
|
0.00036
|
NM_203446.3(SYNJ1):c.*312C>T
|
rs149199429
|
0.00036
|
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_012179.4(FBXO7):c.110C>G (p.Thr37Ser)
|
rs773027248
|
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_001103146.3(GIGYF2):c.167A>G (p.Asn56Ser)
|
rs72554080
|
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_012179.4(FBXO7):c.277T>G (p.Ser93Ala)
|
rs143041875
|
0.00032
|
NM_203446.3(SYNJ1):c.1081T>A (p.Tyr361Asn)
|
rs533216340
|
0.00032
|
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_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_003285.3(TNR):c.1774A>G (p.Thr592Ala)
|
rs140481433
|
0.00029
|
NM_003560.4(PLA2G6):c.956C>T (p.Thr319Met)
|
rs149653983
|
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_018206.6(VPS35):c.151G>A (p.Gly51Ser)
|
rs193077277
|
0.00028
|
NM_022089.4(ATP13A2):c.*243A>C
|
rs777596557
|
0.00028
|
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_198578.4(LRRK2):c.319A>G (p.Asn107Asp)
|
rs141177841
|
0.00027
|
NM_198578.4(LRRK2):c.4536+3A>G
|
rs41286476
|
0.00027
|
NM_022089.4(ATP13A2):c.2610-9T>C
|
rs376189607
|
0.00026
|
NM_032409.3(PINK1):c.*702G>A
|
rs922209796
|
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_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_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_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_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_001256864.2(DNAJC6):c.1113G>A (p.Lys371=)
|
rs144924736
|
0.00022
|
NM_020821.3(VPS13C):c.387C>T (p.Gly129=)
|
rs139665824
|
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_003560.4(PLA2G6):c.2417C>G (p.Pro806Arg)
|
rs140758033
|
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_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_003560.4(PLA2G6):c.439G>A (p.Ala147Thr)
|
rs138672490
|
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_003560.4(PLA2G6):c.1381C>T (p.Arg461Trp)
|
rs76718524
|
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_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_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_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_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_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_001103146.3(GIGYF2):c.1262A>G (p.Lys421Arg)
|
rs115735611
|
0.00016
|
NM_003560.4(PLA2G6):c.2234G>A (p.Arg745Gln)
|
rs368514303
|
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_022089.4(ATP13A2):c.2592C>T (p.Cys864=)
|
rs777472886
|
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_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_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_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_004181.5(UCHL1):c.457C>T (p.Arg153Trp)
|
rs139583787
|
0.00014
|
NM_004562.3(PRKN):c.837C>T (p.His279=)
|
rs149433924
|
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_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_001256864.2(DNAJC6):c.216G>A (p.Glu72=)
|
rs146062011
|
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_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_001256864.2(DNAJC6):c.1039A>G (p.Ile347Val)
|
rs200712827
|
0.00012
|
NM_003560.4(PLA2G6):c.16C>T (p.Arg6Cys)
|
rs143250889
|
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_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_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_001256864.2(DNAJC6):c.1832C>T (p.Ala611Val)
|
rs375368522
|
0.00011
|
NM_003560.4(PLA2G6):c.447C>T (p.Asn149=)
|
rs368631309
|
0.00011
|
NM_004562.3(PRKN):c.-46C>T
|
rs369389244
|
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_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_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_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_001256864.2(DNAJC6):c.2298G>A (p.Ser766=)
|
rs540477402
|
0.00010
|
NM_001377265.1(MAPT):c.1115C>T (p.Ala372Val)
|
rs377402921
|
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_032409.3(PINK1):c.*18G>A
|
rs369117599
|
0.00010
|
NM_032409.3(PINK1):c.942G>A (p.Leu314=)
|
rs145990823
|
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_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_003560.4(PLA2G6):c.1799G>A (p.Arg600Gln)
|
rs149712244
|
0.00009
|
NM_003560.4(PLA2G6):c.2222G>A (p.Arg741Gln)
|
rs121908686
|
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_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_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_032409.3(PINK1):c.1719C>T (p.Leu573=)
|
rs201936304
|
0.00009
|
NM_032409.3(PINK1):c.745T>G (p.Leu249Val)
|
rs145650643
|
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
|
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_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_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_001256864.2(DNAJC6):c.1715C>T (p.Ala572Val)
|
rs141779215
|
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_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_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_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_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_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_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_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_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_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_001103146.3(GIGYF2):c.2378C>T (p.Ala793Val)
|
rs748538823
|
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_001382273.1(TNK2):c.1088T>C (p.Val363Ala)
|
rs370013968
|
0.00005
|
NM_003560.4(PLA2G6):c.1649G>A (p.Arg550Gln)
|
rs376051062
|
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_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_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_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_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_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_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_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_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_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_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_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_001377265.1(MAPT):c.1042T>C (p.Ser348Pro)
|
rs753640366
|
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_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_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_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_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_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_001377265.1(MAPT):c.2392C>T (p.Arg798Trp)
|
rs63750424
|
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_020821.3(VPS13C):c.1111C>T (p.Arg371Ter)
|
rs752457309
|
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_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_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_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_001377265.1(MAPT):c.89C>T (p.Thr30Ile)
|
rs374996228
|
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_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_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_020821.3(VPS13C):c.8806C>T (p.Arg2936Ter)
|
rs148074630
|
0.00001
|
NM_020821.3(VPS13C):c.9020G>A (p.Arg3007Gln)
|
rs778287890
|
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_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_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
|
|
|
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_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_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_000016.9:g.(?_46694384)_(46782105_?)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
|
|
|
NG_008165.1:g.12526CAR[46_?]
|
|
|
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_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_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_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_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_002973.4(ATXN2):c.16CAG[33_?] (p.6Gln[33_?])
|
rs1885090126
|
|
NM_003285.3(TNR):c.1732C>T (p.Arg578Ter)
|
rs869312899
|
|
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_003895.4(SYNJ1):c.13T>C (p.Trp5Arg)
|
rs1255271636
|
|
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_004993.6(ATXN3):c.892CAG[8_36]
|
rs193922928
|
|
NM_005216.4(DDOST):c.*807_*5409del
|
|
|
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_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_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_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_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_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
|
|
|
m.12397A>G
|
rs1556424100
|
|
m.14319T>C
|
rs199476110
|
|
m.15950G>A
|
rs118203890
|
|
m.15965A>G
|
rs199474700
|
|
m.3397A>G
|
rs199476120
|
|
m.8344A>G
|
rs118192098
|
|
nsv513788
|
|
|