NM_015836.4(WARS2):c.37T>G (p.Trp13Gly)
|
rs139548132
|
0.00360
|
NM_004562.3(PRKN):c.823C>T (p.Arg275Trp)
|
rs34424986
|
0.00226
|
NM_007262.5(PARK7):c.446A>C (p.Asp149Ala)
|
rs74315352
|
0.00061
|
NM_198578.4(LRRK2):c.6055G>A (p.Gly2019Ser)
|
rs34637584
|
0.00036
|
NM_004562.3(PRKN):c.719C>T (p.Thr240Met)
|
rs137853054
|
0.00016
|
NM_003560.4(PLA2G6):c.2222G>A (p.Arg741Gln)
|
rs121908686
|
0.00009
|
NM_003690.5(PRKRA):c.665C>T (p.Pro222Leu)
|
rs121434410
|
0.00009
|
NM_000345.4(SNCA):c.150T>G (p.His50Gln)
|
rs201106962
|
0.00007
|
NM_022089.4(ATP13A2):c.3057del (p.Tyr1020fs)
|
rs765632065
|
0.00007
|
NM_032409.3(PINK1):c.836G>A (p.Arg279His)
|
rs74315358
|
0.00007
|
NM_004562.3(PRKN):c.167T>A (p.Val56Glu)
|
rs137853059
|
0.00006
|
NM_022089.4(ATP13A2):c.2629G>A (p.Gly877Arg)
|
rs144701072
|
0.00004
|
NM_032409.3(PINK1):c.1040T>C (p.Leu347Pro)
|
rs28940285
|
0.00004
|
NM_032409.3(PINK1):c.1366C>T (p.Gln456Ter)
|
rs45539432
|
0.00004
|
NM_003560.4(PLA2G6):c.2239C>T (p.Arg747Trp)
|
rs121908687
|
0.00003
|
NM_021219.4(JAM2):c.323G>A (p.Arg108His)
|
rs1383641309
|
0.00003
|
NM_198578.4(LRRK2):c.4321C>T (p.Arg1441Cys)
|
rs33939927
|
0.00003
|
NM_004562.3(PRKN):c.633A>T (p.Lys211Asn)
|
rs137853060
|
0.00002
|
NM_016139.4(CHCHD2):c.300+5G>A
|
rs750014782
|
0.00002
|
NM_021219.4(JAM2):c.685C>T (p.Arg229Ter)
|
rs781261918
|
0.00002
|
NM_001044.5(SLC6A3):c.1184C>T (p.Pro395Leu)
|
rs267607069
|
0.00001
|
NM_001044.5(SLC6A3):c.1269+1G>A
|
rs431905504
|
0.00001
|
NM_001044.5(SLC6A3):c.1561C>T (p.Arg521Trp)
|
rs431905516
|
0.00001
|
NM_001256864.2(DNAJC6):c.2223A>T (p.Thr741=)
|
rs879255554
|
0.00001
|
NM_002608.4(PDGFB):c.433C>T (p.Gln145Ter)
|
rs397515631
|
0.00001
|
NM_002609.4(PDGFRB):c.2959C>T (p.Arg987Trp)
|
rs397509382
|
0.00001
|
NM_004562.3(PRKN):c.635G>A (p.Cys212Tyr)
|
rs137853058
|
0.00001
|
NM_007262.5(PARK7):c.192G>C (p.Glu64Asp)
|
rs74315353
|
0.00001
|
NM_020702.5(MYORG):c.225G>A (p.Trp75Ter)
|
rs760451348
|
0.00001
|
NM_021219.4(JAM2):c.395-1dup
|
rs751103286
|
0.00001
|
NM_032409.3(PINK1):c.1311G>A (p.Trp437Ter)
|
rs74315356
|
0.00001
|
NM_032409.3(PINK1):c.938C>T (p.Thr313Met)
|
rs74315359
|
0.00001
|
NM_198578.4(LRRK2):c.4322G>A (p.Arg1441His)
|
rs34995376
|
0.00001
|
NM_203446.3(SYNJ1):c.656G>A (p.Arg219Gln)
|
rs398122403
|
0.00001
|
GRCh38/hg38 4q22.1(chr4:88504598-90127832)x3
|
|
|
I655T
|
|
|
NC_000004.12:g.(?_89724098)_(89927969_89934809)dup
|
|
|
NG_032161.2:g.(87059_102191)_(118197_128986)del
|
|
|
NG_050658.1:g.(5235_69181)_(69440_100126)del
|
|
|
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.88G>C (p.Ala30Pro)
|
rs104893878
|
|
NM_001044.5(SLC6A3):c.1031+1G>A
|
rs431905514
|
|
NM_001044.5(SLC6A3):c.1103T>A (p.Leu368Gln)
|
rs267607068
|
|
NM_001044.5(SLC6A3):c.671T>C (p.Leu224Pro)
|
rs431905515
|
|
NM_001256864.2(DNAJC6):c.2410C>T (p.Gln804Ter)
|
rs398122405
|
|
NM_001256864.2(DNAJC6):c.2536C>T (p.Gln846Ter)
|
rs886039854
|
|
NM_001256864.2(DNAJC6):c.2779A>G (p.Arg927Gly)
|
rs879255630
|
|
NM_001256864.2(DNAJC6):c.801-2A>G
|
rs398122404
|
|
NM_001257180.2(SLC20A2):c.1492G>A (p.Gly498Arg)
|
rs1586022262
|
|
NM_001257180.2(SLC20A2):c.1723G>A (p.Glu575Lys)
|
rs387906653
|
|
NM_001257180.2(SLC20A2):c.1784C>T (p.Thr595Met)
|
rs387906654
|
|
NM_001257180.2(SLC20A2):c.1802C>G (p.Ser601Trp)
|
rs387906652
|
|
NM_001257180.2(SLC20A2):c.1802C>T (p.Ser601Leu)
|
rs387906652
|
|
NM_001257180.2(SLC20A2):c.1828_1831del (p.Ser610fs)
|
rs398122396
|
|
NM_001257180.2(SLC20A2):c.509del (p.Ile169_Leu170insTer)
|
rs398122395
|
|
NM_001257180.2(SLC20A2):c.583_584del (p.Val195fs)
|
rs398122397
|
|
NM_002608.4(PDGFB):c.356T>C (p.Leu119Pro)
|
rs397515632
|
|
NM_002608.4(PDGFB):c.3G>A (p.Met1Ile)
|
rs398122399
|
|
NM_002608.4(PDGFB):c.445C>T (p.Arg149Ter)
|
rs397515633
|
|
NM_002608.4(PDGFB):c.726G>C (p.Ter242Tyr)
|
rs398122398
|
|
NM_002609.4(PDGFRB):c.1973T>C (p.Leu658Pro)
|
rs397509381
|
|
NM_003054.6(SLC18A2):c.1160C>T (p.Pro387Leu)
|
rs1392638187
|
|
NM_003054.6(SLC18A2):c.216dup (p.Asp73fs)
|
|
|
NM_003054.6(SLC18A2):c.240_244del (p.Ser80_Tyr81insTer)
|
|
|
NM_003054.6(SLC18A2):c.33G>A (p.Trp11Ter)
|
rs2133723906
|
|
NM_003054.6(SLC18A2):c.710C>A (p.Pro237His)
|
rs767337086
|
|
NM_003054.6(SLC18A2):c.946C>G (p.Pro316Ala)
|
rs1589981178
|
|
NM_003365.3(UQCRC1):c.931A>C (p.Ile311Leu)
|
rs2107843274
|
|
NM_003365.3(UQCRC1):c.941A>C (p.Tyr314Ser)
|
rs780978963
|
|
NM_003365.3(UQCRC1):c.[70-1G>A;73dup]
|
|
|
NM_003560.4(PLA2G6):c.1354C>T (p.Gln452Ter)
|
rs387906864
|
|
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.991G>T (p.Asp331Tyr)
|
rs199935023
|
|
NM_003690.5(PRKRA):c.267_268del (p.His89fs)
|
rs730880307
|
|
NM_003719.5(PDE8B):c.94_95delinsC (p.Val32fs)
|
rs2149371451
|
|
NM_004082.5(DCTN1):c.211G>A (p.Gly71Arg)
|
rs72466485
|
|
NM_004082.5(DCTN1):c.212G>A (p.Gly71Glu)
|
rs67586389
|
|
NM_004082.5(DCTN1):c.221A>C (p.Gln74Pro)
|
rs72466487
|
|
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.101del (p.Gln34fs)
|
rs748142049
|
|
NM_004562.3(PRKN):c.1292G>T (p.Cys431Phe)
|
rs397514694
|
|
NM_004562.3(PRKN):c.1358G>A (p.Trp453Ter)
|
rs137853056
|
|
NM_004562.3(PRKN):c.155del (p.Asn52fs)
|
rs754809877
|
|
NM_004562.3(PRKN):c.245C>A (p.Ala82Glu)
|
rs55774500
|
|
NM_004562.3(PRKN):c.483A>T (p.Lys161Asn)
|
rs137853057
|
|
NM_004562.3(PRKN):c.7+1G>T
|
rs397518439
|
|
NM_004562.3(PRKN):c.719C>G (p.Thr240Arg)
|
rs137853054
|
|
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_004736.4(XPR1):c.407G>A (p.Ser136Asn)
|
rs786205902
|
|
NM_004736.4(XPR1):c.419T>C (p.Leu140Pro)
|
rs786205903
|
|
NM_004736.4(XPR1):c.434T>C (p.Leu145Pro)
|
rs786205901
|
|
NM_004736.4(XPR1):c.653T>C (p.Leu218Ser)
|
rs786205904
|
|
NM_005216.4(DDOST):c.*807_*5409del
|
|
|
NM_005765.3(ATP6AP2):c.345C>T (p.Ser115=)
|
rs397518480
|
|
NM_007262.4(PARK7):c.[-24+75_-24+92dup;487G>A]
|
|
|
NM_007262.5(PARK7):c.497T>C (p.Leu166Pro)
|
rs28938172
|
|
NM_007262.5(PARK7):c.78G>A (p.Met26Ile)
|
rs74315351
|
|
NM_012179.4(FBXO7):c.1132C>G (p.Arg378Gly)
|
rs71799110
|
|
NM_012179.4(FBXO7):c.1144+1G>T
|
rs730880272
|
|
NM_012179.4(FBXO7):c.1492C>T (p.Arg498Ter)
|
rs121918304
|
|
NM_012179.4(FBXO7):c.65C>T (p.Thr22Met)
|
rs121918305
|
|
NM_015836.4(WARS2):c.149G>A (p.Gly50Asp)
|
rs1571323203
|
|
NM_015836.4(WARS2):c.295CTT[1] (p.Leu100del)
|
rs772867219
|
|
NM_015836.4(WARS2):c.622G>T (p.Glu208Ter)
|
rs137890886
|
|
NM_015836.4(WARS2):c.683C>G (p.Ser228Trp)
|
rs1647600390
|
|
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.1858G>A (p.Asp620Asn)
|
rs188286943
|
|
NM_018713.3(SLC30A10):c.1235del (p.Gln412fs)
|
rs281860292
|
|
NM_018713.3(SLC30A10):c.266T>C (p.Leu89Pro)
|
rs281860284
|
|
NM_018713.3(SLC30A10):c.314_322del (p.Ala105_Pro107del)
|
rs281860285
|
|
NM_018713.3(SLC30A10):c.507del (p.Pro170fs)
|
rs281860287
|
|
NM_018713.3(SLC30A10):c.585del (p.Thr196fs)
|
rs281860288
|
|
NM_020702.5(MYORG):c.1057GAC[1] (p.Asp354del)
|
rs1180204613
|
|
NM_020702.5(MYORG):c.1233del (p.Phe411fs)
|
rs1563981857
|
|
NM_020702.5(MYORG):c.1321C>G (p.Arg441Gly)
|
rs749427106
|
|
NM_020702.5(MYORG):c.1333C>T (p.Gln445Ter)
|
rs1563981743
|
|
NM_020702.5(MYORG):c.607C>T (p.Gln203Ter)
|
rs1563982489
|
|
NM_020702.5(MYORG):c.695C>T (p.Ser232Leu)
|
rs757434146
|
|
NM_020702.5(MYORG):c.782_783delinsTT (p.Arg261Leu)
|
rs1563982307
|
|
NM_020821.3(VPS13C):c.4165G>C (p.Gly1389Arg)
|
rs369100678
|
|
NM_020821.3(VPS13C):c.4777del (p.Gln1593fs)
|
rs869312811
|
|
NM_020821.3(VPS13C):c.802_805dup (p.Arg269fs)
|
rs869320761
|
|
NM_020821.3(VPS13C):c.8445+2T>G
|
rs869312809
|
|
NM_020821.3(VPS13C):c.9568G>T (p.Glu3190Ter)
|
rs869312810
|
|
NM_021219.4(JAM2):c.143del (p.Ile47_Leu48insTer)
|
rs1601038626
|
|
NM_021219.4(JAM2):c.177_180del (p.Ser59_Arg60insTer)
|
rs1601038704
|
|
NM_021219.4(JAM2):c.1A>G (p.Met1Val)
|
rs1600978441
|
|
NM_021219.4(JAM2):c.504G>C (p.Trp168Cys)
|
rs1230941179
|
|
NM_021219.4:(67+1_68-1)_(394+1_395-1)del
|
|
|
NM_022089.4(ATP13A2):c.1101_1102dup (p.Thr368fs)
|
rs762033589
|
|
NM_022089.4(ATP13A2):c.1306+5G>A
|
rs786205056
|
|
NM_022089.4(ATP13A2):c.1510G>C (p.Gly504Arg)
|
rs121918227
|
|
NM_022089.4(ATP13A2):c.1633_1654dup (p.Leu552fs)
|
rs2100817106
|
|
NM_022089.4(ATP13A2):c.2552_2553del (p.Phe851fs)
|
rs587776890
|
|
NM_022089.4(ATP13A2):c.2561T>G (p.Met854Arg)
|
rs587777053
|
|
NM_032409.3(PINK1):c.1570_1573dup (p.Asp525fs)
|
rs730880302
|
|
NM_032409.3(PINK1):c.1597CAA[3] (p.Gln534dup)
|
rs750664040
|
|
NM_032409.3(PINK1):c.650C>A (p.Ala217Asp)
|
rs74315360
|
|
NM_032409.3(PINK1):c.736C>T (p.Arg246Ter)
|
rs74315357
|
|
NM_032409.3(PINK1):c.813C>A (p.His271Gln)
|
rs28940284
|
|
NM_032409.3(PINK1):c.926G>A (p.Gly309Asp)
|
rs74315355
|
|
NM_152296.5(ATP1A3):c.1838C>T (p.Thr613Met)
|
|
|
NM_152296.5(ATP1A3):c.2273T>G (p.Ile758Ser)
|
rs80356535
|
|
NM_152296.5(ATP1A3):c.2338T>C (p.Phe780Leu)
|
rs80356536
|
|
NM_152296.5(ATP1A3):c.2401G>T (p.Asp801Tyr)
|
rs80356537
|
|
NM_152296.5(ATP1A3):c.2767G>A (p.Asp923Asn)
|
rs267606670
|
|
NM_152296.5(ATP1A3):c.3035ACT[3] (p.Tyr1013dup)
|
rs397515382
|
|
NM_152296.5(ATP1A3):c.821T>C (p.Ile274Thr)
|
rs80356532
|
|
NM_152296.5(ATP1A3):c.829G>A (p.Glu277Lys)
|
rs80356533
|
|
NM_152296.5(ATP1A3):c.946G>A (p.Gly316Ser)
|
rs869320661
|
|
NM_171998.4(RAB39B):c.503C>A (p.Thr168Lys)
|
rs587777874
|
|
NM_171998.4(RAB39B):c.574G>A (p.Gly192Arg)
|
rs864309527
|
|
NM_178000.3(PTPA):c.407C>A (p.Ala136Asp)
|
|
|
NM_178000.3(PTPA):c.788T>G (p.Met263Arg)
|
|
|
NM_198578.4(LRRK2):c.3364A>G (p.Ile1122Val)
|
rs34805604
|
|
NM_198578.4(LRRK2):c.4321C>G (p.Arg1441Gly)
|
rs33939927
|
|
NM_198578.4(LRRK2):c.5096A>G (p.Tyr1699Cys)
|
rs35801418
|
|
NM_198578.4(LRRK2):c.6059T>C (p.Ile2020Thr)
|
rs35870237
|
|
NM_203446.3(SYNJ1):c.1259G>C (p.Arg420Pro)
|
rs1060499619
|
|
TAF1, SVA RETROTRANSPOSON INSERTION
|
|
|
m.3397A>G
|
rs199476120
|
|
m.8344A>G
|
rs118192098
|
|
nsv513788
|
|
|