NM_001256864.2(DNAJC6):c.194-20_194-19insG
|
rs111346712
|
0.03019
|
NM_012179.4(FBXO7):c.122+9G>A
|
rs192327462
|
0.00407
|
NM_001256864.2(DNAJC6):c.194-5G>T
|
rs753576283
|
0.00359
|
NM_203446.3(SYNJ1):c.*728C>T
|
rs2230767
|
0.00284
|
NM_203446.3(SYNJ1):c.1030G>A (p.Ala344Thr)
|
rs114942253
|
0.00255
|
NM_001256864.2(DNAJC6):c.1492T>A (p.Cys498Ser)
|
rs145329294
|
0.00237
|
NM_001256864.2(DNAJC6):c.2254A>T (p.Thr752Ser)
|
rs113143702
|
0.00201
|
NM_203446.3(SYNJ1):c.3590C>T (p.Thr1197Met)
|
rs145937537
|
0.00200
|
NM_012179.4(FBXO7):c.601G>A (p.Val201Met)
|
rs61730783
|
0.00163
|
NM_032409.3(PINK1):c.165G>A (p.Glu55=)
|
rs537679886
|
0.00162
|
NM_203446.3(SYNJ1):c.*4G>A
|
rs115648918
|
0.00158
|
NM_203446.3(SYNJ1):c.*761C>T
|
rs111516740
|
0.00143
|
NM_198578.4(LRRK2):c.356T>C (p.Leu119Pro)
|
rs33995463
|
0.00140
|
NM_203446.3(SYNJ1):c.*223A>G
|
rs113978322
|
0.00139
|
NM_032409.3(PINK1):c.67G>A (p.Gly23Ser)
|
rs551542832
|
0.00125
|
NM_022089.4(ATP13A2):c.7G>C (p.Ala3Pro)
|
rs549839037
|
0.00122
|
NM_001256864.2(DNAJC6):c.194-16T>G
|
rs772643958
|
0.00119
|
NM_001256864.2(DNAJC6):c.2159C>T (p.Ser720Leu)
|
rs143504255
|
0.00116
|
NM_022089.4(ATP13A2):c.2348G>A (p.Arg783Gln)
|
rs137955309
|
0.00108
|
NM_203446.3(SYNJ1):c.3205A>G (p.Ser1069Gly)
|
rs149817769
|
0.00105
|
NM_022089.4(ATP13A2):c.2836A>T (p.Ile946Phe)
|
rs55708915
|
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.347A>G (p.Gln116Arg)
|
rs144883021
|
0.00085
|
NM_198578.4(LRRK2):c.347+2T>C
|
rs141221000
|
0.00084
|
NM_022089.4(ATP13A2):c.1309C>G (p.Leu437Val)
|
rs149372969
|
0.00081
|
NM_022089.4(ATP13A2):c.106-8G>A
|
rs200587951
|
0.00075
|
NM_203446.3(SYNJ1):c.2120T>C (p.Ile707Thr)
|
rs147929290
|
0.00074
|
NM_022089.4(ATP13A2):c.2942C>T (p.Thr981Met)
|
rs148201608
|
0.00070
|
NM_032409.3(PINK1):c.1075G>A (p.Ala359Thr)
|
rs76753586
|
0.00066
|
NM_203446.3(SYNJ1):c.*552G>A
|
rs146425050
|
0.00064
|
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_032409.3(PINK1):c.1488+17C>T
|
rs140025459
|
0.00055
|
NM_198578.4(LRRK2):c.6566A>G (p.Tyr2189Cys)
|
rs35658131
|
0.00055
|
NM_022089.4(ATP13A2):c.2331C>T (p.His777=)
|
rs144708504
|
0.00050
|
NM_198578.4(LRRK2):c.4111A>G (p.Ile1371Val)
|
rs17466213
|
0.00050
|
NM_018206.6(VPS35):c.1368+17G>A
|
rs183091274
|
0.00048
|
NM_198578.4(LRRK2):c.1383T>C (p.Ser461=)
|
rs35847451
|
0.00047
|
NM_032409.3(PINK1):c.1147G>A (p.Ala383Thr)
|
rs45515602
|
0.00046
|
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_032409.3(PINK1):c.1605G>A (p.Ser535=)
|
rs149070918
|
0.00039
|
NM_198578.4(LRRK2):c.2697A>C (p.Glu899Asp)
|
rs148113070
|
0.00039
|
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_203446.3(SYNJ1):c.*312C>T
|
rs149199429
|
0.00036
|
NM_022089.4(ATP13A2):c.1203C>T (p.Cys401=)
|
rs148026506
|
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_032409.3(PINK1):c.1251+9C>T
|
rs369834644
|
0.00033
|
NM_032409.3(PINK1):c.1728A>G (p.Ser576=)
|
rs149994404
|
0.00033
|
NM_012179.4(FBXO7):c.277T>G (p.Ser93Ala)
|
rs143041875
|
0.00032
|
NM_022089.4(ATP13A2):c.3207G>A (p.Ala1069=)
|
rs137877665
|
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_203446.3(SYNJ1):c.1830C>G (p.Leu610=)
|
rs115658799
|
0.00030
|
NM_012179.4(FBXO7):c.303T>C (p.Asn101=)
|
rs373293691
|
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_198578.4(LRRK2):c.364C>T (p.Leu122=)
|
rs41286468
|
0.00026
|
NM_203446.3(SYNJ1):c.909A>G (p.Gly303=)
|
rs145522240
|
0.00026
|
NM_022089.4(ATP13A2):c.472G>A (p.Gly158Arg)
|
rs113643181
|
0.00025
|
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.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_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.6801C>T (p.Thr2267=)
|
rs148143226
|
0.00023
|
NM_203446.3(SYNJ1):c.*333C>T
|
rs548047319
|
0.00023
|
NM_000345.4(SNCA):c.121+11C>T
|
rs35135226
|
0.00022
|
NM_198578.4(LRRK2):c.1324C>T (p.His442Tyr)
|
rs568593066
|
0.00022
|
NM_000345.4(SNCA):c.216G>A (p.Thr72=)
|
rs144758871
|
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.5799A>T (p.Ile1933=)
|
rs139746572
|
0.00021
|
NM_198578.4(LRRK2):c.7036T>C (p.Tyr2346His)
|
rs138264225
|
0.00021
|
NM_203446.3(SYNJ1):c.2875-5G>A
|
rs376206541
|
0.00021
|
NM_022089.4(ATP13A2):c.2685G>A (p.Leu895=)
|
rs138437271
|
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_198578.4(LRRK2):c.45T>C (p.Thr15=)
|
rs142399623
|
0.00019
|
NM_203446.3(SYNJ1):c.1726+18T>C
|
rs780148215
|
0.00019
|
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.1953-10T>C
|
rs368736353
|
0.00018
|
NM_203446.3(SYNJ1):c.2937A>G (p.Glu979=)
|
rs574473408
|
0.00018
|
NM_022089.4(ATP13A2):c.1353+8T>C
|
rs369680614
|
0.00017
|
NM_203446.3(SYNJ1):c.3591G>A (p.Thr1197=)
|
rs764207431
|
0.00017
|
NM_007262.5(PARK7):c.410-9A>G
|
rs143947415
|
0.00016
|
NM_012179.4(FBXO7):c.155A>G (p.Tyr52Cys)
|
rs550610502
|
0.00016
|
NM_022089.4(ATP13A2):c.2592C>T (p.Cys864=)
|
rs777472886
|
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.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.1182A>G (p.Leu394=)
|
rs148145327
|
0.00015
|
NM_001256864.2(DNAJC6):c.1577A>G (p.Asn526Ser)
|
rs191459935
|
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_018206.6(VPS35):c.1881C>T (p.Ala627=)
|
rs138794859
|
0.00014
|
NM_022089.4(ATP13A2):c.1449C>T (p.Tyr483=)
|
rs750600448
|
0.00014
|
NM_032409.3(PINK1):c.177C>T (p.Val59=)
|
rs766471374
|
0.00014
|
NM_203446.3(SYNJ1):c.-34C>T
|
rs968709804
|
0.00014
|
NM_001256864.2(DNAJC6):c.216G>A (p.Glu72=)
|
rs146062011
|
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.3235+13G>A
|
rs369278996
|
0.00013
|
NM_203446.3(SYNJ1):c.1257T>G (p.Thr419=)
|
rs76972835
|
0.00013
|
NM_203446.3(SYNJ1):c.2739C>T (p.Ala913=)
|
rs267606107
|
0.00013
|
NM_012179.4(FBXO7):c.291A>C (p.Ser97=)
|
rs369892815
|
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_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.5217C>T (p.Tyr1739=)
|
rs200107211
|
0.00012
|
NM_203446.3(SYNJ1):c.3753T>G (p.Ser1251=)
|
rs150595970
|
0.00012
|
NM_012179.4(FBXO7):c.1182+18T>G
|
rs201875880
|
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_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.2655C>T (p.Ala885=)
|
rs371975975
|
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_203446.3(SYNJ1):c.2795+16T>A
|
rs533093953
|
0.00011
|
NM_001256864.2(DNAJC6):c.2298G>A (p.Ser766=)
|
rs540477402
|
0.00010
|
NM_022089.4(ATP13A2):c.2709C>G (p.Val903=)
|
rs145455452
|
0.00010
|
NM_022089.4(ATP13A2):c.844A>T (p.Ser282Cys)
|
rs538497077
|
0.00010
|
NM_032409.3(PINK1):c.942G>A (p.Leu314=)
|
rs145990823
|
0.00010
|
NM_198578.4(LRRK2):c.66G>A (p.Arg22=)
|
rs151283507
|
0.00010
|
NM_203446.3(SYNJ1):c.38T>C (p.Leu13Ser)
|
rs779059079
|
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_012179.4(FBXO7):c.319G>A (p.Ala107Thr)
|
rs138222812
|
0.00009
|
NM_022089.4(ATP13A2):c.255C>T (p.Ala85=)
|
rs369906056
|
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.588C>T (p.Asp196=)
|
rs147384248
|
0.00009
|
NM_032409.3(PINK1):c.1719C>T (p.Leu573=)
|
rs201936304
|
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_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_012179.4(FBXO7):c.1441C>T (p.Arg481Cys)
|
rs148272407
|
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_032409.3(PINK1):c.426G>A (p.Pro142=)
|
rs151146709
|
0.00008
|
NM_203446.3(SYNJ1):c.2304+20A>G
|
rs142813430
|
0.00008
|
NM_203446.3(SYNJ1):c.2795+10T>C
|
rs756959605
|
0.00008
|
NM_203446.3(SYNJ1):c.462T>A (p.Thr154=)
|
rs369978981
|
0.00008
|
NM_022089.4(ATP13A2):c.197G>A (p.Arg66His)
|
rs367745335
|
0.00007
|
NM_022089.4(ATP13A2):c.3297C>T (p.Pro1099=)
|
rs756650754
|
0.00007
|
NM_022089.4(ATP13A2):c.3473G>A (p.Arg1158His)
|
rs544885605
|
0.00007
|
NM_022089.4(ATP13A2):c.528C>T (p.Ile176=)
|
rs371992028
|
0.00007
|
NM_032409.3(PINK1):c.1017C>T (p.Ala339=)
|
rs1476223950
|
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_000345.4(SNCA):c.391-16A>G
|
rs371014092
|
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_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.2994C>T (p.Ser998=)
|
rs369590596
|
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.823C>T (p.Leu275=)
|
rs767056514
|
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.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_198578.4(LRRK2):c.344A>C (p.His115Pro)
|
rs201439315
|
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.4943A>G (p.Gln1648Arg)
|
rs200143418
|
0.00006
|
NM_198578.4(LRRK2):c.5657-9T>C
|
rs201705389
|
0.00006
|
NM_198578.4(LRRK2):c.699G>A (p.Ala233=)
|
rs577327683
|
0.00006
|
NM_203446.3(SYNJ1):c.*411C>T
|
rs369666497
|
0.00006
|
NM_203446.3(SYNJ1):c.-31G>C
|
rs751083536
|
0.00006
|
NM_203446.3(SYNJ1):c.1045A>G (p.Ser349Gly)
|
rs202234473
|
0.00006
|
NM_203446.3(SYNJ1):c.1245T>C (p.Pro415=)
|
rs111655347
|
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.2909G>C (p.Ser970Thr)
|
rs537389515
|
0.00006
|
NM_203446.3(SYNJ1):c.2955A>G (p.Lys985=)
|
rs534726886
|
0.00006
|
NM_203446.3(SYNJ1):c.3392-5A>G
|
rs776721216
|
0.00006
|
NM_203446.3(SYNJ1):c.3697+12T>G
|
rs763338383
|
0.00006
|
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_012179.4(FBXO7):c.1221G>A (p.Pro407=)
|
rs201127594
|
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.3084-16A>T
|
rs56299881
|
0.00005
|
NM_022089.4(ATP13A2):c.3378C>T (p.Leu1126=)
|
rs773914880
|
0.00005
|
NM_022089.4(ATP13A2):c.822G>A (p.Ser274=)
|
rs138649639
|
0.00005
|
NM_032409.3(PINK1):c.1065A>G (p.Gln355=)
|
rs370470902
|
0.00005
|
NM_198578.4(LRRK2):c.4881G>A (p.Ser1627=)
|
rs767307387
|
0.00005
|
NM_203446.3(SYNJ1):c.*618A>G
|
rs139212871
|
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.2976A>G (p.Ser992=)
|
rs115204185
|
0.00005
|
NM_203446.3(SYNJ1):c.3378T>A (p.Pro1126=)
|
rs376132504
|
0.00005
|
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.186C>T (p.Asp62=)
|
rs371984320
|
0.00004
|
NM_001256864.2(DNAJC6):c.2310G>A (p.Ala770=)
|
rs113490907
|
0.00004
|
NM_001256864.2(DNAJC6):c.2526A>G (p.Leu842=)
|
rs753691766
|
0.00004
|
NM_007262.5(PARK7):c.429G>A (p.Glu143=)
|
rs140517273
|
0.00004
|
NM_007262.5(PARK7):c.91-5C>T
|
rs539876064
|
0.00004
|
NM_012179.4(FBXO7):c.1535G>A (p.Gly512Asp)
|
rs142471722
|
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.2640C>T (p.Ala880=)
|
rs567287489
|
0.00004
|
NM_022089.4(ATP13A2):c.2745C>T (p.Cys915=)
|
rs372361807
|
0.00004
|
NM_022089.4(ATP13A2):c.2763-17C>T
|
rs367638044
|
0.00004
|
NM_022089.4(ATP13A2):c.2952G>A (p.Ala984=)
|
rs138212767
|
0.00004
|
NM_022089.4(ATP13A2):c.3205G>A (p.Ala1069Thr)
|
rs774238872
|
0.00004
|
NM_022089.4(ATP13A2):c.3235+16C>T
|
rs373315947
|
0.00004
|
NM_022089.4(ATP13A2):c.407C>T (p.Ala136Val)
|
rs562519835
|
0.00004
|
NM_022089.4(ATP13A2):c.993C>T (p.Ala331=)
|
rs568367953
|
0.00004
|
NM_032409.3(PINK1):c.429G>A (p.Leu143=)
|
rs554567650
|
0.00004
|
NM_198578.4(LRRK2):c.2689+17A>G
|
rs938086487
|
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.3969A>G (p.Gln1323=)
|
rs372245035
|
0.00004
|
NM_198578.4(LRRK2):c.3993T>G (p.Pro1331=)
|
rs141293633
|
0.00004
|
NM_198578.4(LRRK2):c.5154C>T (p.Tyr1718=)
|
rs150450334
|
0.00004
|
NM_198578.4(LRRK2):c.6900G>A (p.Leu2300=)
|
rs906855468
|
0.00004
|
NM_198578.4(LRRK2):c.750T>C (p.Tyr250=)
|
rs139971538
|
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.2586C>T (p.Val862=)
|
rs771973400
|
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.3392-20A>G
|
rs375300586
|
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_000345.4(SNCA):c.121+13C>T
|
rs763539470
|
0.00003
|
NM_000345.4(SNCA):c.225A>T (p.Thr75=)
|
rs149401968
|
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_007262.5(PARK7):c.91-4G>A
|
rs756040385
|
0.00003
|
NM_012179.4(FBXO7):c.465G>A (p.Ala155=)
|
rs765523844
|
0.00003
|
NM_018206.6(VPS35):c.4-15T>C
|
rs767613585
|
0.00003
|
NM_022089.4(ATP13A2):c.1104A>G (p.Thr368=)
|
rs762728165
|
0.00003
|
NM_022089.4(ATP13A2):c.1398C>T (p.Thr466=)
|
rs768482207
|
0.00003
|
NM_022089.4(ATP13A2):c.1688G>A (p.Arg563Gln)
|
rs541385523
|
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.2796C>T (p.Ser932=)
|
rs755542233
|
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.558-20C>T
|
rs749500132
|
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_198578.4(LRRK2):c.1446A>G (p.Ala482=)
|
rs757454147
|
0.00003
|
NM_198578.4(LRRK2):c.1517G>A (p.Arg506Gln)
|
rs202009639
|
0.00003
|
NM_198578.4(LRRK2):c.2191T>C (p.Leu731=)
|
rs201126499
|
0.00003
|
NM_198578.4(LRRK2):c.4077A>G (p.Lys1359=)
|
rs1333671057
|
0.00003
|
NM_198578.4(LRRK2):c.5166G>A (p.Gly1722=)
|
rs200905003
|
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.7062C>T (p.Ile2354=)
|
rs768811495
|
0.00003
|
NM_203446.3(SYNJ1):c.*666A>G
|
rs763776246
|
0.00003
|
NM_203446.3(SYNJ1):c.*729G>A
|
rs771278245
|
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.1002C>T (p.Asp334=)
|
rs763601982
|
0.00003
|
NM_203446.3(SYNJ1):c.125-13del
|
rs763797914
|
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.2146-8G>A
|
rs759701632
|
0.00003
|
NM_203446.3(SYNJ1):c.243C>T (p.Val81=)
|
rs769645055
|
0.00003
|
NM_203446.3(SYNJ1):c.2520G>A (p.Thr840=)
|
rs746832641
|
0.00003
|
NM_203446.3(SYNJ1):c.2587G>A (p.Val863Ile)
|
rs377350366
|
0.00003
|
NM_203446.3(SYNJ1):c.3037+18A>G
|
rs780721031
|
0.00003
|
NM_203446.3(SYNJ1):c.324C>T (p.Ile108=)
|
rs551070196
|
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.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_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.2151C>T (p.Thr717=)
|
rs145501615
|
0.00002
|
NM_012179.4(FBXO7):c.1530C>T (p.Ser510=)
|
rs1057521329
|
0.00002
|
NM_012179.4(FBXO7):c.646-10C>T
|
rs367584088
|
0.00002
|
NM_012179.4(FBXO7):c.999C>T (p.Val333=)
|
rs1191841298
|
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.648G>A (p.Leu216=)
|
rs763697798
|
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.1341C>T (p.Leu447=)
|
rs1032082452
|
0.00002
|
NM_022089.4(ATP13A2):c.1704C>T (p.Pro568=)
|
rs200868484
|
0.00002
|
NM_022089.4(ATP13A2):c.1900C>G (p.Leu634Val)
|
rs543531903
|
0.00002
|
NM_022089.4(ATP13A2):c.2285G>A (p.Arg762Gln)
|
rs766899425
|
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.3405+10G>A
|
rs375485447
|
0.00002
|
NM_022089.4(ATP13A2):c.585C>T (p.Asp195=)
|
rs765706877
|
0.00002
|
NM_022089.4(ATP13A2):c.777C>T (p.Tyr259=)
|
rs780133367
|
0.00002
|
NM_022089.4(ATP13A2):c.975G>A (p.Gly325=)
|
rs915404570
|
0.00002
|
NM_032409.3(PINK1):c.1077G>A (p.Ala359=)
|
rs144550985
|
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.414G>A (p.Pro138=)
|
rs773637957
|
0.00002
|
NM_032409.3(PINK1):c.564C>T (p.Thr188=)
|
rs754328101
|
0.00002
|
NM_198578.4(LRRK2):c.1092G>A (p.Lys364=)
|
rs200462425
|
0.00002
|
NM_198578.4(LRRK2):c.1891C>T (p.Leu631=)
|
rs757654557
|
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.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.6582T>C (p.Val2194=)
|
rs773085638
|
0.00002
|
NM_198578.4(LRRK2):c.839-4T>G
|
rs748213808
|
0.00002
|
NM_203446.3(SYNJ1):c.*148A>C
|
rs777068962
|
0.00002
|
NM_203446.3(SYNJ1):c.*720T>C
|
rs1016040846
|
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.-64C>T
|
rs869206401
|
0.00002
|
NM_203446.3(SYNJ1):c.-73C>G
|
rs772641102
|
0.00002
|
NM_203446.3(SYNJ1):c.1176T>C (p.Ser392=)
|
rs779977140
|
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.1959T>G (p.Val653=)
|
rs747138067
|
0.00002
|
NM_203446.3(SYNJ1):c.2025A>G (p.Arg675=)
|
rs987102051
|
0.00002
|
NM_203446.3(SYNJ1):c.2145+13T>C
|
rs779562990
|
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.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.3327G>A (p.Pro1109=)
|
rs1436978655
|
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.3693G>A (p.Ser1231=)
|
rs755437097
|
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.41A>G (p.Asp14Gly)
|
rs565807712
|
0.00002
|
NM_203446.3(SYNJ1):c.480-18T>G
|
rs1242153000
|
0.00002
|
NM_203446.3(SYNJ1):c.684C>T (p.Ala228=)
|
rs376985894
|
0.00002
|
NM_203446.3(SYNJ1):c.930G>A (p.Met310Ile)
|
rs749045961
|
0.00002
|
NM_000345.4(SNCA):c.246G>A (p.Val82=)
|
rs775179895
|
0.00001
|
NM_000345.4(SNCA):c.306+8T>C
|
rs758513669
|
0.00001
|
NM_001256864.2(DNAJC6):c.1755T>C (p.Phe585=)
|
rs1412214392
|
0.00001
|
NM_001256864.2(DNAJC6):c.2223A>T (p.Thr741=)
|
rs879255554
|
0.00001
|
NM_001256864.2(DNAJC6):c.751T>C (p.Leu251=)
|
rs755098010
|
0.00001
|
NM_001256864.2(DNAJC6):c.897C>G (p.Pro299=)
|
rs371261372
|
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.1183-15T>G
|
rs534389109
|
0.00001
|
NM_012179.4(FBXO7):c.1183-4del
|
rs1399849415
|
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.418-7T>C
|
rs1191875613
|
0.00001
|
NM_012179.4(FBXO7):c.447G>A (p.Glu149=)
|
rs1012166328
|
0.00001
|
NM_012179.4(FBXO7):c.522G>A (p.Ser174=)
|
rs772581980
|
0.00001
|
NM_012179.4(FBXO7):c.646-9G>A
|
rs1205866315
|
0.00001
|
NM_018206.6(VPS35):c.1290C>T (p.Tyr430=)
|
rs368876504
|
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.1557T>C (p.Ala519=)
|
rs1463376876
|
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_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.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.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.1437G>A (p.Val479=)
|
rs367695021
|
0.00001
|
NM_022089.4(ATP13A2):c.1543-15_1543-12del
|
rs753702273
|
0.00001
|
NM_022089.4(ATP13A2):c.1563C>T (p.Asp521=)
|
rs777948791
|
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.1755G>A (p.Leu585=)
|
rs200184146
|
0.00001
|
NM_022089.4(ATP13A2):c.1845+15G>A
|
rs750975658
|
0.00001
|
NM_022089.4(ATP13A2):c.1857G>A (p.Pro619=)
|
rs1187762774
|
0.00001
|
NM_022089.4(ATP13A2):c.1869C>T (p.Ser623=)
|
rs757800272
|
0.00001
|
NM_022089.4(ATP13A2):c.2013C>T (p.Thr671=)
|
rs1176219513
|
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.2119C>T (p.Leu707=)
|
rs762570626
|
0.00001
|
NM_022089.4(ATP13A2):c.2133T>C (p.Thr711=)
|
rs751346349
|
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.2340C>T (p.His780=)
|
rs769392537
|
0.00001
|
NM_022089.4(ATP13A2):c.2397C>T (p.Ala799=)
|
rs772920644
|
0.00001
|
NM_022089.4(ATP13A2):c.24C>T (p.Leu8=)
|
rs1460426486
|
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.264C>T (p.Leu88=)
|
rs554781874
|
0.00001
|
NM_022089.4(ATP13A2):c.2673C>T (p.Val891=)
|
rs764639673
|
0.00001
|
NM_022089.4(ATP13A2):c.2820C>T (p.Tyr940=)
|
rs765560804
|
0.00001
|
NM_022089.4(ATP13A2):c.288+16A>T
|
rs1385104135
|
0.00001
|
NM_022089.4(ATP13A2):c.2919A>G (p.Thr973=)
|
rs149403933
|
0.00001
|
NM_022089.4(ATP13A2):c.2943G>A (p.Thr981=)
|
rs746372968
|
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.3174C>T (p.Tyr1058=)
|
rs777045615
|
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.471C>T (p.Val157=)
|
rs762608323
|
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.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.786C>T (p.Cys262=)
|
rs1237741171
|
0.00001
|
NM_022089.4(ATP13A2):c.846C>T (p.Ser282=)
|
rs762440899
|
0.00001
|
NM_032409.3(PINK1):c.1123+19A>G
|
rs762129771
|
0.00001
|
NM_032409.3(PINK1):c.1125C>T (p.Asp375=)
|
rs531300037
|
0.00001
|
NM_032409.3(PINK1):c.1251+19A>G
|
rs758065542
|
0.00001
|
NM_032409.3(PINK1):c.141C>G (p.Gly47=)
|
rs1167601739
|
0.00001
|
NM_032409.3(PINK1):c.1530C>T (p.Ser510=)
|
rs367949045
|
0.00001
|
NM_032409.3(PINK1):c.1689G>A (p.Glu563=)
|
rs752317048
|
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.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.960-17T>C
|
rs768609926
|
0.00001
|
NM_198578.4(LRRK2):c.1182-5G>A
|
rs898586557
|
0.00001
|
NM_198578.4(LRRK2):c.2382G>T (p.Leu794=)
|
rs1171219491
|
0.00001
|
NM_198578.4(LRRK2):c.2690-14C>A
|
rs1276064023
|
0.00001
|
NM_198578.4(LRRK2):c.2809-18T>C
|
rs1453324975
|
0.00001
|
NM_198578.4(LRRK2):c.2878+14T>C
|
rs1944322347
|
0.00001
|
NM_198578.4(LRRK2):c.3028T>C (p.Leu1010=)
|
rs199635806
|
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.3867G>A (p.Gly1289=)
|
rs200798306
|
0.00001
|
NM_198578.4(LRRK2):c.3960-5A>G
|
rs764870651
|
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.4337C>T (p.Pro1446Leu)
|
rs74681492
|
0.00001
|
NM_198578.4(LRRK2):c.4401T>C (p.Ser1467=)
|
rs370239119
|
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.4845G>A (p.Val1615=)
|
rs774887321
|
0.00001
|
NM_198578.4(LRRK2):c.5171-9A>G
|
rs78243554
|
0.00001
|
NM_198578.4(LRRK2):c.5454T>C (p.Asp1818=)
|
rs968750174
|
0.00001
|
NM_198578.4(LRRK2):c.572-14C>T
|
rs202012106
|
0.00001
|
NM_198578.4(LRRK2):c.5948+8G>C
|
rs756480297
|
0.00001
|
NM_198578.4(LRRK2):c.6012A>G (p.Thr2004=)
|
rs758448437
|
0.00001
|
NM_198578.4(LRRK2):c.6702G>A (p.Lys2234=)
|
rs1265078699
|
0.00001
|
NM_198578.4(LRRK2):c.959-5T>C
|
rs202079711
|
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.*120G>A
|
rs377721268
|
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.*21C>A
|
rs756737216
|
0.00001
|
NM_203446.3(SYNJ1):c.*270C>T
|
rs748033451
|
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.*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.*665C>G
|
rs150753892
|
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.*798T>C
|
rs1007414965
|
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.-37G>A
|
rs1297512201
|
0.00001
|
NM_203446.3(SYNJ1):c.-61C>T
|
rs932881262
|
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.1281A>G (p.Ser427=)
|
rs1256463338
|
0.00001
|
NM_203446.3(SYNJ1):c.1290C>T (p.Ser430=)
|
rs919941488
|
0.00001
|
NM_203446.3(SYNJ1):c.156A>G (p.Thr52=)
|
rs144728528
|
0.00001
|
NM_203446.3(SYNJ1):c.1641A>G (p.Gln547=)
|
rs753893833
|
0.00001
|
NM_203446.3(SYNJ1):c.1671A>G (p.Thr557=)
|
rs1461901564
|
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.1848G>A (p.Gln616=)
|
rs1601348530
|
0.00001
|
NM_203446.3(SYNJ1):c.2146-14C>G
|
rs775638018
|
0.00001
|
NM_203446.3(SYNJ1):c.2202A>C (p.Arg734=)
|
rs924156740
|
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.2403C>T (p.Thr801=)
|
rs755696516
|
0.00001
|
NM_203446.3(SYNJ1):c.2795+7T>C
|
rs780616248
|
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.303T>C (p.Thr101=)
|
rs1445704945
|
0.00001
|
NM_203446.3(SYNJ1):c.3195C>T (p.Pro1065=)
|
rs763564076
|
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.3324G>A (p.Pro1108=)
|
rs757804939
|
0.00001
|
NM_203446.3(SYNJ1):c.3333C>G (p.Pro1111=)
|
rs372510070
|
0.00001
|
NM_203446.3(SYNJ1):c.3391+15T>A
|
rs754412906
|
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.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.3588+15G>A
|
rs540863552
|
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.3765G>A (p.Pro1255=)
|
rs781500048
|
0.00001
|
NM_203446.3(SYNJ1):c.3786G>A (p.Glu1262=)
|
rs750931400
|
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.480-7C>T
|
rs748707134
|
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.747C>T (p.Ile249=)
|
rs766187063
|
0.00001
|
NM_203446.3(SYNJ1):c.790-18A>G
|
rs764219821
|
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.873C>T (p.Asn291=)
|
rs1326451805
|
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.981T>C (p.Asp327=)
|
rs759120326
|
0.00001
|
NM_000345.4(SNCA):c.105G>A (p.Glu35=)
|
|
|
NM_000345.4(SNCA):c.121+9A>C
|
|
|
NM_000345.4(SNCA):c.163+7T>G
|
rs1578405610
|
|
NM_000345.4(SNCA):c.164-16T>A
|
|
|
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.349C>T (p.Pro117Ser)
|
|
|
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.396G>T (p.Gly132=)
|
|
|
NM_000345.4(SNCA):c.99A>G (p.Thr33=)
|
|
|
NM_000345.4(SNCA):c.9A>G (p.Val3=)
|
|
|
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.1383A>G (p.Leu461=)
|
|
|
NM_001256864.2(DNAJC6):c.1431C>T (p.Tyr477=)
|
|
|
NM_001256864.2(DNAJC6):c.1569G>A (p.Pro523=)
|
|
|
NM_001256864.2(DNAJC6):c.156A>G (p.Arg52=)
|
|
|
NM_001256864.2(DNAJC6):c.1662G>A (p.Val554=)
|
|
|
NM_001256864.2(DNAJC6):c.1824T>C (p.Ser608=)
|
|
|
NM_001256864.2(DNAJC6):c.1845A>G (p.Ser615=)
|
rs2101614479
|
|
NM_001256864.2(DNAJC6):c.194-13T>G
|
rs765899995
|
|
NM_001256864.2(DNAJC6):c.194-15T>G
|
|
|
NM_001256864.2(DNAJC6):c.1974C>T (p.Asn658=)
|
|
|
NM_001256864.2(DNAJC6):c.2025G>T (p.Ser675=)
|
rs185245369
|
|
NM_001256864.2(DNAJC6):c.2039-4G>T
|
|
|
NM_001256864.2(DNAJC6):c.2107+11G>T
|
|
|
NM_001256864.2(DNAJC6):c.210C>T (p.Asp70=)
|
|
|
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.2370A>C (p.Pro790=)
|
|
|
NM_001256864.2(DNAJC6):c.2634+18C>T
|
|
|
NM_001256864.2(DNAJC6):c.2643A>G (p.Glu881=)
|
|
|
NM_001256864.2(DNAJC6):c.270C>T (p.Leu90=)
|
|
|
NM_001256864.2(DNAJC6):c.2790C>T (p.Val930=)
|
|
|
NM_001256864.2(DNAJC6):c.2799G>A (p.Val933=)
|
rs764156036
|
|
NM_001256864.2(DNAJC6):c.344+12C>T
|
|
|
NM_001256864.2(DNAJC6):c.507A>G (p.Ser169=)
|
rs2101558882
|
|
NM_001256864.2(DNAJC6):c.543+10T>G
|
|
|
NM_001256864.2(DNAJC6):c.666+10C>G
|
rs373591833
|
|
NM_001256864.2(DNAJC6):c.750A>T (p.Arg250=)
|
rs2101597985
|
|
NM_001256864.2(DNAJC6):c.789A>T (p.Pro263=)
|
|
|
NM_001256864.2(DNAJC6):c.801-14A>C
|
rs758557034
|
|
NM_001256864.2(DNAJC6):c.876G>A (p.Ser292=)
|
|
|
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_007262.5(PARK7):c.193-17G>A
|
rs2151431064
|
|
NM_007262.5(PARK7):c.252+8A>G
|
|
|
NM_007262.5(PARK7):c.252+8dup
|
rs781094807
|
|
NM_007262.5(PARK7):c.273A>C (p.Ile91=)
|
|
|
NM_007262.5(PARK7):c.300C>T (p.Gly100=)
|
|
|
NM_007262.5(PARK7):c.309C>T (p.Ala103=)
|
|
|
NM_007262.5(PARK7):c.322+12G>A
|
rs1640453503
|
|
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.409+18TTTG[3]
|
rs751547694
|
|
NM_007262.5(PARK7):c.409+18TTTG[5]
|
rs751547694
|
|
NM_007262.5(PARK7):c.534G>A (p.Ala178=)
|
|
|
NM_007262.5(PARK7):c.54G>A (p.Glu18=)
|
|
|
NM_007262.5(PARK7):c.91-4G>C
|
|
|
NM_007262.5(PARK7):c.96G>A (p.Lys32=)
|
|
|
NM_012179.4(FBXO7):c.100C>T (p.Leu34=)
|
|
|
NM_012179.4(FBXO7):c.1026G>C (p.Arg342=)
|
|
|
NM_012179.4(FBXO7):c.1041G>A (p.Leu347=)
|
|
|
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.1144+10G>A
|
|
|
NM_012179.4(FBXO7):c.1144+10G>T
|
|
|
NM_012179.4(FBXO7):c.1144+19T>C
|
|
|
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.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.1183-7T>C
|
|
|
NM_012179.4(FBXO7):c.1183-9T>C
|
|
|
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+7dup
|
|
|
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.1269A>G (p.Pro423=)
|
|
|
NM_012179.4(FBXO7):c.1278C>T (p.Pro426=)
|
|
|
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.1314C>T (p.Arg438=)
|
|
|
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.1392C>T (p.Leu464=)
|
|
|
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.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.1494A>G (p.Arg498=)
|
|
|
NM_012179.4(FBXO7):c.1497C>A (p.Gly499=)
|
|
|
NM_012179.4(FBXO7):c.156C>T (p.Tyr52=)
|
|
|
NM_012179.4(FBXO7):c.174A>C (p.Gly58=)
|
|
|
NM_012179.4(FBXO7):c.249A>G (p.Pro83=)
|
|
|
NM_012179.4(FBXO7):c.252G>A (p.Ala84=)
|
|
|
NM_012179.4(FBXO7):c.306G>A (p.Glu102=)
|
rs905363046
|
|
NM_012179.4(FBXO7):c.30G>A (p.Arg10=)
|
|
|
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.354A>G (p.Glu118=)
|
|
|
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.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.426T>C (p.Pro142=)
|
|
|
NM_012179.4(FBXO7):c.432A>G (p.Gln144=)
|
|
|
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.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.4A>C (p.Arg2=)
|
|
|
NM_012179.4(FBXO7):c.531G>A (p.Gly177=)
|
|
|
NM_012179.4(FBXO7):c.537G>A (p.Val179=)
|
|
|
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.573C>T (p.Asp191=)
|
|
|
NM_012179.4(FBXO7):c.579T>C (p.Ser193=)
|
|
|
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.666G>C (p.Leu222=)
|
|
|
NM_012179.4(FBXO7):c.675G>A (p.Pro225=)
|
|
|
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.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.873G>A (p.Gly291=)
|
|
|
NM_012179.4(FBXO7):c.879T>C (p.Asn293=)
|
|
|
NM_012179.4(FBXO7):c.894C>T (p.Tyr298=)
|
|
|
NM_012179.4(FBXO7):c.909A>G (p.Lys303=)
|
|
|
NM_012179.4(FBXO7):c.90G>A (p.Leu30=)
|
|
|
NM_012179.4(FBXO7):c.912C>T (p.Leu304=)
|
|
|
NM_012179.4(FBXO7):c.921C>T (p.Leu307=)
|
|
|
NM_012179.4(FBXO7):c.930C>T (p.Asp310=)
|
|
|
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.968-16_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_018206.6(VPS35):c.1002A>G (p.Thr334=)
|
rs1966115698
|
|
NM_018206.6(VPS35):c.100C>T (p.Leu34=)
|
|
|
NM_018206.6(VPS35):c.103-17T>C
|
|
|
NM_018206.6(VPS35):c.1035G>A (p.Glu345=)
|
rs563975281
|
|
NM_018206.6(VPS35):c.1119A>G (p.Leu373=)
|
|
|
NM_018206.6(VPS35):c.1191A>G (p.Glu397=)
|
|
|
NM_018206.6(VPS35):c.1194C>T (p.Leu398=)
|
|
|
NM_018206.6(VPS35):c.1369-12C>T
|
|
|
NM_018206.6(VPS35):c.1369-5T>C
|
|
|
NM_018206.6(VPS35):c.144T>C (p.Asn48=)
|
|
|
NM_018206.6(VPS35):c.1482C>T (p.Phe494=)
|
|
|
NM_018206.6(VPS35):c.1803A>G (p.Thr601=)
|
|
|
NM_018206.6(VPS35):c.199+14G>T
|
|
|
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.2316C>T (p.Asn772=)
|
rs752414695
|
|
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.4-18G>A
|
|
|
NM_018206.6(VPS35):c.507-14C>G
|
|
|
NM_018206.6(VPS35):c.721-16G>A
|
|
|
NM_018206.6(VPS35):c.762G>A (p.Arg254=)
|
|
|
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.915-17G>T
|
|
|
NM_018206.6(VPS35):c.942T>C (p.Asp314=)
|
|
|
NM_018206.6(VPS35):c.978T>C (p.Asp326=)
|
|
|
NM_018206.6(VPS35):c.9A>C (p.Thr3=)
|
rs1364157460
|
|
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.1039+11A>G
|
rs2100994243
|
|
NM_022089.4(ATP13A2):c.1039+15C>G
|
|
|
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.1041A>T (p.Gly347=)
|
|
|
NM_022089.4(ATP13A2):c.106-20C>T
|
|
|
NM_022089.4(ATP13A2):c.1095T>C (p.Cys365=)
|
rs2100916560
|
|
NM_022089.4(ATP13A2):c.1110G>T (p.Arg370=)
|
|
|
NM_022089.4(ATP13A2):c.1125C>T (p.Phe375=)
|
|
|
NM_022089.4(ATP13A2):c.1137C>G (p.Leu379=)
|
rs1026641789
|
|
NM_022089.4(ATP13A2):c.1163G>A (p.Gly388Glu)
|
rs769588580
|
|
NM_022089.4(ATP13A2):c.1188C>T (p.Thr396=)
|
|
|
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.1215G>T (p.Gly405=)
|
rs763507619
|
|
NM_022089.4(ATP13A2):c.1218C>T (p.Gly406=)
|
rs796629683
|
|
NM_022089.4(ATP13A2):c.1281G>A (p.Lys427=)
|
|
|
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.1353+16G>C
|
|
|
NM_022089.4(ATP13A2):c.1353+17G>T
|
|
|
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.1380G>C (p.Arg460=)
|
|
|
NM_022089.4(ATP13A2):c.1443G>A (p.Thr481=)
|
|
|
NM_022089.4(ATP13A2):c.1491C>T (p.His497=)
|
|
|
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.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.1609C>T (p.Leu537=)
|
|
|
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.1701C>T (p.Thr567=)
|
|
|
NM_022089.4(ATP13A2):c.1749+12A>G
|
|
|
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.1845+14G>A
|
|
|
NM_022089.4(ATP13A2):c.1845+17C>T
|
rs912845832
|
|
NM_022089.4(ATP13A2):c.1887C>T (p.Pro629=)
|
|
|
NM_022089.4(ATP13A2):c.1893T>G (p.Ser631=)
|
|
|
NM_022089.4(ATP13A2):c.1947C>T (p.Pro649=)
|
|
|
NM_022089.4(ATP13A2):c.1956C>T (p.Tyr652=)
|
|
|
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.2006-20C>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.2082A>G (p.Pro694=)
|
rs1303061130
|
|
NM_022089.4(ATP13A2):c.2094G>A (p.Val698=)
|
|
|
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.2136G>A (p.Val712=)
|
rs1232417254
|
|
NM_022089.4(ATP13A2):c.2190G>A (p.Pro730=)
|
|
|
NM_022089.4(ATP13A2):c.2202A>G (p.Pro734=)
|
|
|
NM_022089.4(ATP13A2):c.2235C>T (p.Arg745=)
|
|
|
NM_022089.4(ATP13A2):c.2238C>T (p.Ala746=)
|
|
|
NM_022089.4(ATP13A2):c.2251+19G>A
|
|
|
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.2310G>A (p.Gln770=)
|
|
|
NM_022089.4(ATP13A2):c.2325C>T (p.Ile775=)
|
|
|
NM_022089.4(ATP13A2):c.2379G>A (p.Pro793=)
|
|
|
NM_022089.4(ATP13A2):c.2400G>C (p.Val800=)
|
|
|
NM_022089.4(ATP13A2):c.2412+12C>G
|
|
|
NM_022089.4(ATP13A2):c.2454C>T (p.Pro818=)
|
rs2100725900
|
|
NM_022089.4(ATP13A2):c.2481G>T (p.Gly827=)
|
rs761620417
|
|
NM_022089.4(ATP13A2):c.24C>A (p.Leu8=)
|
rs1460426486
|
|
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.2556C>T (p.Ala852=)
|
rs55889979
|
|
NM_022089.4(ATP13A2):c.2580A>G (p.Thr860=)
|
rs1295653375
|
|
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.2682G>A (p.Ser894=)
|
rs767921922
|
|
NM_022089.4(ATP13A2):c.270C>T (p.Ile90=)
|
rs1348572920
|
|
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.2763-8C>A
|
|
|
NM_022089.4(ATP13A2):c.2799C>T (p.Val933=)
|
|
|
NM_022089.4(ATP13A2):c.2829C>G (p.Thr943=)
|
|
|
NM_022089.4(ATP13A2):c.2841C>T (p.Ser947=)
|
|
|
NM_022089.4(ATP13A2):c.2860-7G>A
|
rs2076770965
|
|
NM_022089.4(ATP13A2):c.2862C>A (p.Ile954=)
|
|
|
NM_022089.4(ATP13A2):c.2871C>T (p.Asn957=)
|
|
|
NM_022089.4(ATP13A2):c.288+12G>T
|
rs749064381
|
|
NM_022089.4(ATP13A2):c.288+17G>T
|
|
|
NM_022089.4(ATP13A2):c.289-12T>C
|
|
|
NM_022089.4(ATP13A2):c.289-13C>T
|
|
|
NM_022089.4(ATP13A2):c.2898C>T (p.Ile966=)
|
|
|
NM_022089.4(ATP13A2):c.2958C>G (p.Val986=)
|
|
|
NM_022089.4(ATP13A2):c.2967G>A (p.Arg989=)
|
|
|
NM_022089.4(ATP13A2):c.2976A>C (p.Pro992=)
|
|
|
NM_022089.4(ATP13A2):c.2979G>A (p.Pro993=)
|
|
|
NM_022089.4(ATP13A2):c.2991C>T (p.Leu997=)
|
|
|
NM_022089.4(ATP13A2):c.3013C>T (p.Leu1005=)
|
|
|
NM_022089.4(ATP13A2):c.3039C>T (p.Thr1013=)
|
|
|
NM_022089.4(ATP13A2):c.3042C>T (p.Gly1014=)
|
rs1415173041
|
|
NM_022089.4(ATP13A2):c.3083+18dup
|
|
|
NM_022089.4(ATP13A2):c.3084-10G>A
|
rs368908107
|
|
NM_022089.4(ATP13A2):c.3084-20C>T
|
rs773787370
|
|
NM_022089.4(ATP13A2):c.3084-7C>T
|
|
|
NM_022089.4(ATP13A2):c.3126G>C (p.Leu1042=)
|
|
|
NM_022089.4(ATP13A2):c.3135C>T (p.Tyr1045=)
|
|
|
NM_022089.4(ATP13A2):c.3144C>T (p.Thr1048=)
|
rs56126202
|
|
NM_022089.4(ATP13A2):c.3183G>A (p.Leu1061=)
|
|
|
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+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.3270C>T (p.Ser1090=)
|
|
|
NM_022089.4(ATP13A2):c.3273C>G (p.Val1091=)
|
|
|
NM_022089.4(ATP13A2):c.327T>C (p.Thr109=)
|
|
|
NM_022089.4(ATP13A2):c.3321G>A (p.Ala1107=)
|
rs751916254
|
|
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>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.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.3457C>A (p.Arg1153=)
|
|
|
NM_022089.4(ATP13A2):c.3462C>T (p.Ala1154=)
|
rs761171771
|
|
NM_022089.4(ATP13A2):c.347+12_347+13del
|
|
|
NM_022089.4(ATP13A2):c.348-16T>C
|
rs2077491501
|
|
NM_022089.4(ATP13A2):c.348-17C>T
|
|
|
NM_022089.4(ATP13A2):c.3490C>A (p.Arg1164=)
|
rs373003359
|
|
NM_022089.4(ATP13A2):c.349C>T (p.Leu117=)
|
|
|
NM_022089.4(ATP13A2):c.3501C>G (p.Ala1167=)
|
|
|
NM_022089.4(ATP13A2):c.3525C>T (p.Pro1175=)
|
|
|
NM_022089.4(ATP13A2):c.408G>A (p.Ala136=)
|
|
|
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.483G>A (p.Arg161=)
|
|
|
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.558-6C>T
|
|
|
NM_022089.4(ATP13A2):c.570T>C (p.His190=)
|
|
|
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.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.747G>A (p.Ala249=)
|
|
|
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.853C>T (p.Leu285=)
|
|
|
NM_022089.4(ATP13A2):c.888C>T (p.Cys296=)
|
|
|
NM_022089.4(ATP13A2):c.894C>T (p.Cys298=)
|
|
|
NM_022089.4(ATP13A2):c.900A>C (p.Pro300=)
|
|
|
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.934C>T (p.Leu312=)
|
|
|
NM_022089.4(ATP13A2):c.942C>G (p.Pro314=)
|
|
|
NM_022089.4(ATP13A2):c.942C>T (p.Pro314=)
|
rs551559306
|
|
NM_032409.3(PINK1):c.1047C>A (p.Gly349=)
|
rs2053170671
|
|
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.1252-18C>T
|
|
|
NM_032409.3(PINK1):c.1252-20C>A
|
|
|
NM_032409.3(PINK1):c.129G>A (p.Gly43=)
|
|
|
NM_032409.3(PINK1):c.1398C>T (p.Tyr466=)
|
|
|
NM_032409.3(PINK1):c.1488+14C>T
|
|
|
NM_032409.3(PINK1):c.1488+20C>T
|
|
|
NM_032409.3(PINK1):c.1560G>A (p.Lys520=)
|
|
|
NM_032409.3(PINK1):c.24C>T (p.Gly8=)
|
|
|
NM_032409.3(PINK1):c.285T>G (p.Pro95=)
|
|
|
NM_032409.3(PINK1):c.315G>A (p.Gly105=)
|
rs1247730138
|
|
NM_032409.3(PINK1):c.384C>A (p.Ile128=)
|
|
|
NM_032409.3(PINK1):c.387+15G>A
|
|
|
NM_032409.3(PINK1):c.388-18A>G
|
|
|
NM_032409.3(PINK1):c.388-5C>T
|
|
|
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.531A>G (p.Thr177=)
|
|
|
NM_032409.3(PINK1):c.606A>G (p.Gly202=)
|
|
|
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.639C>T (p.Ala213=)
|
|
|
NM_032409.3(PINK1):c.63C>T (p.Phe21=)
|
|
|
NM_032409.3(PINK1):c.654C>T (p.Ile218=)
|
|
|
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.736C>A (p.Arg246=)
|
rs74315357
|
|
NM_032409.3(PINK1):c.741G>A (p.Val247=)
|
|
|
NM_032409.3(PINK1):c.776+18G>A
|
|
|
NM_032409.3(PINK1):c.776+7G>A
|
|
|
NM_032409.3(PINK1):c.837C>T (p.Arg279=)
|
|
|
NM_032409.3(PINK1):c.88G>A (p.Gly30Ser)
|
|
|
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.966C>G (p.Pro322=)
|
|
|
NM_198578.4(LRRK2):c.1044T>C (p.Phe348=)
|
|
|
NM_198578.4(LRRK2):c.114C>A (p.Ile38=)
|
rs1592124610
|
|
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.1299A>G (p.Arg433=)
|
rs2136507752
|
|
NM_198578.4(LRRK2):c.1404T>C (p.His468=)
|
rs745971400
|
|
NM_198578.4(LRRK2):c.1470T>C (p.Val490=)
|
|
|
NM_198578.4(LRRK2):c.1497A>C (p.Pro499=)
|
|
|
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.1657-20G>A
|
|
|
NM_198578.4(LRRK2):c.1845A>T (p.Thr615=)
|
|
|
NM_198578.4(LRRK2):c.186G>A (p.Val62=)
|
|
|
NM_198578.4(LRRK2):c.1902C>T (p.Ser634=)
|
|
|
NM_198578.4(LRRK2):c.1941+15T>C
|
|
|
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.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.2148G>A (p.Ala716=)
|
|
|
NM_198578.4(LRRK2):c.2269T>C (p.Leu757=)
|
|
|
NM_198578.4(LRRK2):c.2271G>A (p.Leu757=)
|
|
|
NM_198578.4(LRRK2):c.2292T>C (p.Ser764=)
|
|
|
NM_198578.4(LRRK2):c.2373A>G (p.Leu791=)
|
|
|
NM_198578.4(LRRK2):c.2385C>T (p.Ala795=)
|
|
|
NM_198578.4(LRRK2):c.2500+9C>T
|
|
|
NM_198578.4(LRRK2):c.2501-13C>T
|
rs2136674340
|
|
NM_198578.4(LRRK2):c.2517A>G (p.Leu839=)
|
rs1592226567
|
|
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.2689+12A>G
|
rs200290369
|
|
NM_198578.4(LRRK2):c.2689+12A>T
|
rs200290369
|
|
NM_198578.4(LRRK2):c.2689+20A>C
|
|
|
NM_198578.4(LRRK2):c.2760C>T (p.Ala920=)
|
|
|
NM_198578.4(LRRK2):c.2774G>A (p.Cys925Tyr)
|
|
|
NM_198578.4(LRRK2):c.2778A>G (p.Ser926=)
|
rs937911118
|
|
NM_198578.4(LRRK2):c.2811G>A (p.Gly937=)
|
|
|
NM_198578.4(LRRK2):c.2873C>T (p.Ser958Leu)
|
|
|
NM_198578.4(LRRK2):c.2874A>T (p.Ser958=)
|
rs2136715656
|
|
NM_198578.4(LRRK2):c.2880G>A (p.Arg960=)
|
rs199847386
|
|
NM_198578.4(LRRK2):c.3156T>A (p.Ser1052=)
|
|
|
NM_198578.4(LRRK2):c.3348-20A>T
|
rs1459763604
|
|
NM_198578.4(LRRK2):c.3432A>G (p.Leu1144=)
|
rs201121016
|
|
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.3496+18G>A
|
|
|
NM_198578.4(LRRK2):c.3591-14G>C
|
|
|
NM_198578.4(LRRK2):c.3777+13T>C
|
|
|
NM_198578.4(LRRK2):c.3777+9A>G
|
|
|
NM_198578.4(LRRK2):c.3870A>G (p.Lys1290=)
|
|
|
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.3959+9A>T
|
|
|
NM_198578.4(LRRK2):c.3973C>A (p.Arg1325=)
|
|
|
NM_198578.4(LRRK2):c.4101C>T (p.Ala1367=)
|
rs2136815209
|
|
NM_198578.4(LRRK2):c.4167C>T (p.Val1389=)
|
|
|
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.4347C>T (p.Leu1449=)
|
|
|
NM_198578.4(LRRK2):c.4383A>G (p.Gln1461=)
|
|
|
NM_198578.4(LRRK2):c.438T>C (p.Gly146=)
|
|
|
NM_198578.4(LRRK2):c.4447C>A (p.Arg1483=)
|
rs114908017
|
|
NM_198578.4(LRRK2):c.4537-17C>A
|
|
|
NM_198578.4(LRRK2):c.4548G>A (p.Gln1516=)
|
|
|
NM_198578.4(LRRK2):c.4638C>T (p.Pro1546=)
|
|
|
NM_198578.4(LRRK2):c.4713C>T (p.His1571=)
|
|
|
NM_198578.4(LRRK2):c.4739-4A>G
|
|
|
NM_198578.4(LRRK2):c.4739-5T>C
|
|
|
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.4883G>A (p.Arg1628His)
|
rs33949390
|
|
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.5318-4G>A
|
|
|
NM_198578.4(LRRK2):c.5550T>C (p.Ile1850=)
|
rs2136894844
|
|
NM_198578.4(LRRK2):c.5658T>G (p.Gly1886=)
|
|
|
NM_198578.4(LRRK2):c.5676A>G (p.Ser1892=)
|
|
|
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.571+18del
|
|
|
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.5820T>C (p.Ile1940=)
|
|
|
NM_198578.4(LRRK2):c.5838G>A (p.Val1946=)
|
rs2136938127
|
|
NM_198578.4(LRRK2):c.5943T>C (p.Gly1981=)
|
|
|
NM_198578.4(LRRK2):c.606C>T (p.Asn202=)
|
rs199854074
|
|
NM_198578.4(LRRK2):c.6109+14T>C
|
|
|
NM_198578.4(LRRK2):c.6109+19C>T
|
rs2136954887
|
|
NM_198578.4(LRRK2):c.6110-8A>G
|
|
|
NM_198578.4(LRRK2):c.6171T>C (p.Tyr2057=)
|
|
|
NM_198578.4(LRRK2):c.6280+14T>C
|
|
|
NM_198578.4(LRRK2):c.6336A>G (p.Lys2112=)
|
|
|
NM_198578.4(LRRK2):c.63C>A (p.Val21=)
|
|
|
NM_198578.4(LRRK2):c.6423G>A (p.Thr2141=)
|
rs369306296
|
|
NM_198578.4(LRRK2):c.6522C>T (p.Thr2174=)
|
|
|
NM_198578.4(LRRK2):c.6621T>C (p.Leu2207=)
|
|
|
NM_198578.4(LRRK2):c.6711C>G (p.Thr2237=)
|
|
|
NM_198578.4(LRRK2):c.6714A>T (p.Leu2238=)
|
rs202244108
|
|
NM_198578.4(LRRK2):c.6771-15del
|
|
|
NM_198578.4(LRRK2):c.67C>T (p.Leu23=)
|
|
|
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.6898T>C (p.Leu2300=)
|
|
|
NM_198578.4(LRRK2):c.6930G>A (p.Thr2310=)
|
|
|
NM_198578.4(LRRK2):c.693C>T (p.Ser231=)
|
rs1592146379
|
|
NM_198578.4(LRRK2):c.7029-10T>C
|
|
|
NM_198578.4(LRRK2):c.7029-16T>A
|
|
|
NM_198578.4(LRRK2):c.7029-4G>T
|
|
|
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.7089C>T (p.Leu2363=)
|
|
|
NM_198578.4(LRRK2):c.7296C>G (p.Gly2432=)
|
rs199964631
|
|
NM_198578.4(LRRK2):c.7463-8T>C
|
|
|
NM_198578.4(LRRK2):c.7482C>T (p.Thr2494=)
|
|
|
NM_198578.4(LRRK2):c.7521A>G (p.Leu2507=)
|
|
|
NM_198578.4(LRRK2):c.75T>C (p.Asn25=)
|
rs1592124542
|
|
NM_198578.4(LRRK2):c.838+10T>A
|
|
|
NM_198578.4(LRRK2):c.909A>G (p.Pro303=)
|
|
|
NM_198578.4(LRRK2):c.959-13A>C
|
|
|
NM_198578.4(LRRK2):c.972C>T (p.Phe324=)
|
|
|
NM_203446.2(SYNJ1):c.18C>T (p.Ala6=)
|
|
|
NM_203446.2(SYNJ1):c.6G>A (p.Arg2=)
|
|
|
NM_203446.3(SYNJ1):c.*117A>G
|
|
|
NM_203446.3(SYNJ1):c.*135C>T
|
|
|
NM_203446.3(SYNJ1):c.*168T>C
|
|
|
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.*210A>C
|
|
|
NM_203446.3(SYNJ1):c.*234G>A
|
|
|
NM_203446.3(SYNJ1):c.*234G>T
|
rs777299829
|
|
NM_203446.3(SYNJ1):c.*291C>G
|
|
|
NM_203446.3(SYNJ1):c.*303T>G
|
rs2145657976
|
|
NM_203446.3(SYNJ1):c.*321T>C
|
|
|
NM_203446.3(SYNJ1):c.*345C>T
|
|
|
NM_203446.3(SYNJ1):c.*363G>A
|
|
|
NM_203446.3(SYNJ1):c.*387A>G
|
|
|
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.*453A>G
|
|
|
NM_203446.3(SYNJ1):c.*459A>G
|
rs2039318354
|
|
NM_203446.3(SYNJ1):c.*474G>A
|
rs767728958
|
|
NM_203446.3(SYNJ1):c.*576A>G
|
|
|
NM_203446.3(SYNJ1):c.*60A>C
|
rs1020861731
|
|
NM_203446.3(SYNJ1):c.*60A>G
|
rs1020861731
|
|
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.*669T>C
|
|
|
NM_203446.3(SYNJ1):c.*677_*679del
|
rs528030561
|
|
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.*750A>G
|
|
|
NM_203446.3(SYNJ1):c.*753T>C
|
rs2145654435
|
|
NM_203446.3(SYNJ1):c.*762G>C
|
|
|
NM_203446.3(SYNJ1):c.*783A>G
|
|
|
NM_203446.3(SYNJ1):c.*801A>G
|
|
|
NM_203446.3(SYNJ1):c.-22-19C>G
|
|
|
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+8A>G
|
|
|
NM_203446.3(SYNJ1):c.-25G>A
|
rs2146446925
|
|
NM_203446.3(SYNJ1):c.-40G>A
|
|
|
NM_203446.3(SYNJ1):c.-4G>A
|
|
|
NM_203446.3(SYNJ1):c.-51A>C
|
rs1394751497
|
|
NM_203446.3(SYNJ1):c.-58C>T
|
|
|
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.-70C>T
|
|
|
NM_203446.3(SYNJ1):c.-73C>A
|
|
|
NM_203446.3(SYNJ1):c.-76C>A
|
|
|
NM_203446.3(SYNJ1):c.-79T>G
|
|
|
NM_203446.3(SYNJ1):c.1017T>C (p.Val339=)
|
rs2146090232
|
|
NM_203446.3(SYNJ1):c.102G>A (p.Glu34=)
|
|
|
NM_203446.3(SYNJ1):c.1047T>C (p.Ser349=)
|
rs2041819587
|
|
NM_203446.3(SYNJ1):c.1101T>C (p.Asn367=)
|
|
|
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.1150T>C (p.Leu384=)
|
rs1382405019
|
|
NM_203446.3(SYNJ1):c.1179G>T (p.Val393=)
|
rs1179626154
|
|
NM_203446.3(SYNJ1):c.1200+19A>G
|
|
|
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.1227T>C (p.Leu409=)
|
|
|
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.1249T>C (p.Leu417=)
|
|
|
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.1311T>C (p.Ser437=)
|
rs969673470
|
|
NM_203446.3(SYNJ1):c.1323A>G (p.Ala441=)
|
rs1468223961
|
|
NM_203446.3(SYNJ1):c.1335T>C (p.Ala445=)
|
rs964382126
|
|
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+7C>T
|
|
|
NM_203446.3(SYNJ1):c.1389T>A (p.Ile463=)
|
|
|
NM_203446.3(SYNJ1):c.1404T>C (p.Phe468=)
|
rs2146025354
|
|
NM_203446.3(SYNJ1):c.1425C>G (p.Ala475=)
|
|
|
NM_203446.3(SYNJ1):c.150G>A (p.Lys50=)
|
rs2042422021
|
|
NM_203446.3(SYNJ1):c.1510+14A>G
|
|
|
NM_203446.3(SYNJ1):c.1511-16_1511-14del
|
|
|
NM_203446.3(SYNJ1):c.1534+9T>C
|
rs754756374
|
|
NM_203446.3(SYNJ1):c.1535-18G>A
|
rs1170021366
|
|
NM_203446.3(SYNJ1):c.1605A>G (p.Val535=)
|
|
|
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.162C>T (p.Ser54=)
|
rs745320827
|
|
NM_203446.3(SYNJ1):c.1659T>C (p.Phe553=)
|
rs1374033047
|
|
NM_203446.3(SYNJ1):c.1698C>A (p.Pro566=)
|
|
|
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.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.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.1842A>G (p.Glu614=)
|
|
|
NM_203446.3(SYNJ1):c.1845T>A (p.Leu615=)
|
|
|
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.1878G>A (p.Val626=)
|
rs1601348321
|
|
NM_203446.3(SYNJ1):c.1929A>G (p.Arg643=)
|
rs2145926496
|
|
NM_203446.3(SYNJ1):c.1950C>A (p.Ile650=)
|
|
|
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.2037T>C (p.His679=)
|
rs2145923461
|
|
NM_203446.3(SYNJ1):c.2043C>G (p.Thr681=)
|
rs780909870
|
|
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.2091C>G (p.Val697=)
|
|
|
NM_203446.3(SYNJ1):c.2091C>T (p.Val697=)
|
|
|
NM_203446.3(SYNJ1):c.2106A>G (p.Glu702=)
|
|
|
NM_203446.3(SYNJ1):c.211+11C>T
|
|
|
NM_203446.3(SYNJ1):c.212-13T>C
|
|
|
NM_203446.3(SYNJ1):c.212-15C>A
|
|
|
NM_203446.3(SYNJ1):c.2131T>C (p.Leu711=)
|
|
|
NM_203446.3(SYNJ1):c.2145+14G>A
|
|
|
NM_203446.3(SYNJ1):c.2145+18G>A
|
|
|
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.2211C>G (p.Leu737=)
|
|
|
NM_203446.3(SYNJ1):c.2211C>T (p.Leu737=)
|
|
|
NM_203446.3(SYNJ1):c.2277A>G (p.Gln759=)
|
|
|
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.231T>C (p.Tyr77=)
|
|
|
NM_203446.3(SYNJ1):c.2337C>G (p.Thr779=)
|
rs367656251
|
|
NM_203446.3(SYNJ1):c.2385C>G (p.Thr795=)
|
|
|
NM_203446.3(SYNJ1):c.2400C>T (p.Arg800=)
|
rs1429532362
|
|
NM_203446.3(SYNJ1):c.2406T>C (p.Pro802=)
|
|
|
NM_203446.3(SYNJ1):c.2421T>C (p.Arg807=)
|
|
|
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.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.2529A>C (p.Pro843=)
|
|
|
NM_203446.3(SYNJ1):c.2541_2542delinsTT (p.His848Tyr)
|
rs1601309236
|
|
NM_203446.3(SYNJ1):c.2547T>C (p.Tyr849=)
|
rs61756207
|
|
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.258T>C (p.Ser86=)
|
|
|
NM_203446.3(SYNJ1):c.258T>G (p.Ser86=)
|
|
|
NM_203446.3(SYNJ1):c.2607T>C (p.Asp869=)
|
rs2145851928
|
|
NM_203446.3(SYNJ1):c.2658T>C (p.Ile886=)
|
|
|
NM_203446.3(SYNJ1):c.2685A>T (p.Thr895=)
|
rs939655575
|
|
NM_203446.3(SYNJ1):c.2733T>C (p.Asp911=)
|
|
|
NM_203446.3(SYNJ1):c.2736T>C (p.Asp912=)
|
|
|
NM_203446.3(SYNJ1):c.2757G>T (p.Leu919=)
|
rs2145850907
|
|
NM_203446.3(SYNJ1):c.2766T>C (p.Phe922=)
|
rs1479701930
|
|
NM_203446.3(SYNJ1):c.2781A>G (p.Glu927=)
|
rs1350091132
|
|
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.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.297T>C (p.Thr99=)
|
|
|
NM_203446.3(SYNJ1):c.2991C>T (p.Thr997=)
|
|
|
NM_203446.3(SYNJ1):c.2994G>A (p.Leu998=)
|
rs2145809247
|
|
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.3038-12G>A
|
|
|
NM_203446.3(SYNJ1):c.3054T>C (p.Tyr1018=)
|
|
|
NM_203446.3(SYNJ1):c.3060T>A (p.Ala1020=)
|
|
|
NM_203446.3(SYNJ1):c.319C>A (p.Arg107=)
|
|
|
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.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.3252T>G (p.Ser1084=)
|
|
|
NM_203446.3(SYNJ1):c.3270A>C (p.Pro1090=)
|
|
|
NM_203446.3(SYNJ1):c.3273A>G (p.Ala1091=)
|
|
|
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.3303G>A (p.Gln1101=)
|
|
|
NM_203446.3(SYNJ1):c.3357C>T (p.Arg1119=)
|
rs1601259728
|
|
NM_203446.3(SYNJ1):c.3360G>A (p.Pro1120=)
|
|
|
NM_203446.3(SYNJ1):c.3363T>C (p.Ala1121=)
|
|
|
NM_203446.3(SYNJ1):c.3369A>C (p.Pro1123=)
|
rs368850131
|
|
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.3396T>C (p.Ala1132=)
|
rs1220663745
|
|
NM_203446.3(SYNJ1):c.3411C>T (p.Pro1137=)
|
rs1162976890
|
|
NM_203446.3(SYNJ1):c.3431-11del
|
|
|
NM_203446.3(SYNJ1):c.3431-6A>G
|
rs1017765033
|
|
NM_203446.3(SYNJ1):c.3456G>C (p.Gly1152=)
|
rs2145756410
|
|
NM_203446.3(SYNJ1):c.3459A>G (p.Val1153=)
|
|
|
NM_203446.3(SYNJ1):c.345C>T (p.Arg115=)
|
|
|
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+9A>T
|
|
|
NM_203446.3(SYNJ1):c.3479-14T>C
|
rs2039869790
|
|
NM_203446.3(SYNJ1):c.3479-18T>C
|
|
|
NM_203446.3(SYNJ1):c.3489C>T (p.Ser1163=)
|
rs2039868331
|
|
NM_203446.3(SYNJ1):c.3507A>G (p.Lys1169=)
|
|
|
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.3558A>T (p.Pro1186=)
|
rs755614050
|
|
NM_203446.3(SYNJ1):c.3585A>G (p.Arg1195=)
|
rs1404447301
|
|
NM_203446.3(SYNJ1):c.3588+15G>C
|
|
|
NM_203446.3(SYNJ1):c.3588+7A>G
|
rs990106590
|
|
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.3589-4G>A
|
|
|
NM_203446.3(SYNJ1):c.3589-8A>T
|
rs2145726735
|
|
NM_203446.3(SYNJ1):c.3657G>A (p.Leu1219=)
|
|
|
NM_203446.3(SYNJ1):c.3663T>G (p.Pro1221=)
|
|
|
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.3714T>G (p.Pro1238=)
|
rs2145720898
|
|
NM_203446.3(SYNJ1):c.3721C>A (p.Leu1241Met)
|
rs2230766
|
|
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.3756T>C (p.Ser1252=)
|
|
|
NM_203446.3(SYNJ1):c.3783A>G (p.Gln1261=)
|
rs1601231568
|
|
NM_203446.3(SYNJ1):c.3846C>G (p.Thr1282=)
|
|
|
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.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+7C>G
|
rs2145719045
|
|
NM_203446.3(SYNJ1):c.393A>G (p.Ala131=)
|
|
|
NM_203446.3(SYNJ1):c.429T>C (p.Leu143=)
|
rs2146212579
|
|
NM_203446.3(SYNJ1):c.435G>T (p.Ala145=)
|
rs151248057
|
|
NM_203446.3(SYNJ1):c.450A>G (p.Gln150=)
|
|
|
NM_203446.3(SYNJ1):c.453A>G (p.Glu151=)
|
|
|
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.516C>T (p.Gly172=)
|
|
|
NM_203446.3(SYNJ1):c.537A>G (p.Leu179=)
|
rs2146174688
|
|
NM_203446.3(SYNJ1):c.540A>G (p.Leu180=)
|
|
|
NM_203446.3(SYNJ1):c.552T>C (p.Cys184=)
|
|
|
NM_203446.3(SYNJ1):c.561A>G (p.Val187=)
|
|
|
NM_203446.3(SYNJ1):c.576T>A (p.Ile192=)
|
|
|
NM_203446.3(SYNJ1):c.609C>T (p.Leu203=)
|
|
|
NM_203446.3(SYNJ1):c.63A>T (p.Ile21=)
|
|
|
NM_203446.3(SYNJ1):c.654C>G (p.Val218=)
|
|
|
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.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.783G>A (p.Gly261=)
|
|
|
NM_203446.3(SYNJ1):c.789+10T>C
|
rs1601446146
|
|
NM_203446.3(SYNJ1):c.789+20T>C
|
|
|
NM_203446.3(SYNJ1):c.789+8_789+11del
|
rs751922511
|
|
NM_203446.3(SYNJ1):c.790-14T>G
|
|
|
NM_203446.3(SYNJ1):c.807C>G (p.Val269=)
|
|
|
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.876A>G (p.Leu292=)
|
|
|
NM_203446.3(SYNJ1):c.883A>C (p.Lys295Gln)
|
rs554456240
|
|
NM_203446.3(SYNJ1):c.918A>G (p.Glu306=)
|
|
|
NM_203446.3(SYNJ1):c.942T>G (p.Ala314=)
|
|
|
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.969A>G (p.Glu323=)
|
rs1601418926
|
|