NM_198578.4(LRRK2):c.6055G>A (p.Gly2019Ser)
|
rs34637584
|
0.00036
|
NM_003690.5(PRKRA):c.665C>T (p.Pro222Leu)
|
rs121434410
|
0.00009
|
NM_025243.4(SLC19A3):c.980-14A>G
|
rs200542114
|
0.00008
|
NM_022089.4(ATP13A2):c.3057del (p.Tyr1020fs)
|
rs765632065
|
0.00007
|
NM_025243.4(SLC19A3):c.541T>C (p.Ser181Pro)
|
rs773971505
|
0.00006
|
NM_025243.4(SLC19A3):c.337T>C (p.Tyr113His)
|
rs145999922
|
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_032409.3(PINK1):c.1474C>T (p.Arg492Ter)
|
rs34208370
|
0.00004
|
NM_203446.3(SYNJ1):c.-12G>T
|
rs1040540690
|
0.00004
|
NM_203446.3(SYNJ1):c.3865C>T (p.Arg1289Ter)
|
rs747261340
|
0.00004
|
NM_022089.4(ATP13A2):c.1903C>T (p.Gln635Ter)
|
rs773246271
|
0.00003
|
NM_025243.4(SLC19A3):c.854G>A (p.Trp285Ter)
|
rs373198092
|
0.00003
|
NM_198578.4(LRRK2):c.4321C>T (p.Arg1441Cys)
|
rs33939927
|
0.00003
|
NM_012179.4(FBXO7):c.961C>T (p.Arg321Ter)
|
rs369105683
|
0.00002
|
NM_025243.4(SLC19A3):c.68G>T (p.Gly23Val)
|
rs121917882
|
0.00002
|
NM_025243.4(SLC19A3):c.81_82dup (p.Met28fs)
|
rs775835429
|
0.00002
|
NM_032409.3(PINK1):c.502G>C (p.Ala168Pro)
|
rs768091663
|
0.00002
|
NM_032409.3(PINK1):c.665G>A (p.Trp222Ter)
|
rs777160388
|
0.00002
|
NM_001044.5(SLC6A3):c.1269+1G>A
|
rs431905504
|
0.00001
|
NM_002609.4(PDGFRB):c.1681C>T (p.Arg561Cys)
|
rs367543286
|
0.00001
|
NM_012179.4(FBXO7):c.1213G>T (p.Glu405Ter)
|
rs1342038737
|
0.00001
|
NM_022089.4(ATP13A2):c.1459C>T (p.Arg487Ter)
|
rs1303653650
|
0.00001
|
NM_022089.4(ATP13A2):c.2116C>T (p.Gln706Ter)
|
rs2076949269
|
0.00001
|
NM_022089.4(ATP13A2):c.2455C>T (p.Arg819Ter)
|
rs866035312
|
0.00001
|
NM_025243.4(SLC19A3):c.111del (p.Tyr38fs)
|
rs1559252723
|
0.00001
|
NM_025243.4(SLC19A3):c.1172+1G>A
|
rs1219632810
|
0.00001
|
NM_025243.4(SLC19A3):c.855G>A (p.Trp285Ter)
|
rs1695551164
|
0.00001
|
NM_032409.3(PINK1):c.13C>T (p.Gln5Ter)
|
rs1005937012
|
0.00001
|
NM_032409.3(PINK1):c.1488+1G>A
|
rs2053233432
|
0.00001
|
NM_032409.3(PINK1):c.273del (p.Cys92fs)
|
rs755000580
|
0.00001
|
NM_032409.3(PINK1):c.938C>T (p.Thr313Met)
|
rs74315359
|
0.00001
|
NM_203446.2(SYNJ1):c.12_13dup (p.Trp5Tyrfs)
|
rs1227986180
|
0.00001
|
NM_203446.3(SYNJ1):c.2791_2795delATAAG (p.Arg932fs)
|
rs778394516
|
0.00001
|
NM_203446.3(SYNJ1):c.656G>A (p.Arg219Gln)
|
rs398122403
|
0.00001
|
NC_000001.10:g.(?_17316166)_(17332293_?)del
|
|
|
NC_000001.10:g.(?_17330807)_(17332293_?)del
|
|
|
NC_000001.10:g.(?_20972033)_(20972236_?)del
|
|
|
NC_000001.10:g.(?_20972043)_(20972226_?)del
|
|
|
NC_000001.10:g.(?_8022846)_(8037818_?)del
|
|
|
NC_000001.11:g.(?_16991714)_(16992601_?)del
|
|
|
NC_000002.11:g.(?_228552113)_(228567034_?)del
|
|
|
NC_000002.12:g.(?_227687377)_(227702338_?)del
|
|
|
NC_000004.11:g.(?_90647315)_(90756828_?)dup
|
|
|
NC_000004.11:g.(?_90647315)_(90756838_?)dup
|
|
|
NC_000004.11:g.(?_90647779)_(90756818_?)dup
|
|
|
NC_000005.9:g.(?_1253823)_(1448148_?)del
|
|
|
NC_000005.9:g.(?_218471)_(1895829_?)del
|
|
|
NC_000006.11:g.(?_162206784)_(162206960_?)dup
|
|
|
NC_000006.11:g.(?_162394314)_(162475226_?)dup
|
|
|
NC_000006.11:g.(?_162864322)_(162864525_?)dup
|
|
|
NC_000006.12:g.(?_161569335)_(161569436_?)del
|
|
|
NC_000006.12:g.(?_161785752)_(161973437_?)del
|
|
|
NC_000006.12:g.(?_162054091)_(162054174_?)del
|
|
|
NC_000006.12:g.(?_162201111)_(162201272_?)del
|
|
|
NC_000006.12:g.(?_162201111)_(162262785_?)del
|
|
|
NC_000006.12:g.(?_162201131)_(162443473_?)del
|
|
|
NC_000006.12:g.(?_162262505)_(162262785_?)del
|
|
|
NC_000006.12:g.(?_162262505)_(162443493_?)del
|
|
|
NC_000006.12:g.(?_162262525)_(162275409_?)dup
|
|
|
NC_000019.10:g.(?_41968775)_(41970552_?)del
|
|
|
NC_000019.9:g.(?_42471089)_(42486278_?)del
|
|
|
NC_000019.9:g.(?_42479761)_(42492734_?)del
|
|
|
NC_000019.9:g.(?_42489050)_(42490401_?)del
|
|
|
NC_000021.8:g.(?_34011198)_(34100351_?)del
|
|
|
NC_000021.8:g.(?_34072128)_(34074377_?)del
|
|
|
NM_000345.4(SNCA):c.136G>A (p.Glu46Lys)
|
rs104893875
|
|
NM_000345.4(SNCA):c.157G>A (p.Ala53Thr)
|
rs104893877
|
|
NM_000345.4(SNCA):c.89C>G (p.Ala30Gly)
|
rs2110525413
|
|
NM_001044.5(SLC6A3):c.892del (p.Tyr297_Leu298insTer)
|
rs1756409749
|
|
NM_001256864.2(DNAJC6):c.2456dup (p.Gln820fs)
|
rs2101635447
|
|
NM_001256864.2(DNAJC6):c.454C>T (p.Arg152Ter)
|
rs864622011
|
|
NM_001256864.2(DNAJC6):c.677_678dup (p.Ala227fs)
|
rs1645848679
|
|
NM_002609.4(PDGFRB):c.1679C>T (p.Pro560Leu)
|
|
|
NM_002609.4(PDGFRB):c.2483C>A (p.Ala828Glu)
|
|
|
NM_004082.5(DCTN1):c.175G>A (p.Gly59Ser)
|
rs121909342
|
|
NM_004082.5(DCTN1):c.175G>C (p.Gly59Arg)
|
rs121909342
|
|
NM_004082.5(DCTN1):c.212G>A (p.Gly71Glu)
|
rs67586389
|
|
NM_004082.5(DCTN1):c.279+1G>A
|
rs1393363759
|
|
NM_004082.5(DCTN1):c.279+1G>C
|
rs1393363759
|
|
NM_004082.5(DCTN1):c.279+1G>T
|
rs1393363759
|
|
NM_004082.5(DCTN1):c.626dup (p.Leu210fs)
|
|
|
NM_004562.2(PRKN):c.8-?_171+?del
|
|
|
NM_007262.5(PARK7):c.105dup (p.Ala36fs)
|
rs781600849
|
|
NM_007262.5(PARK7):c.82C>T (p.Arg28Ter)
|
rs374429170
|
|
NM_012179.4(FBXO7):c.1033C>T (p.Arg345Ter)
|
|
|
NM_012179.4(FBXO7):c.1141C>T (p.Arg381Ter)
|
|
|
NM_012179.4(FBXO7):c.1188C>A (p.Tyr396Ter)
|
|
|
NM_012179.4(FBXO7):c.1206_1207dup (p.Arg403fs)
|
rs749019340
|
|
NM_012179.4(FBXO7):c.1220del (p.Pro407fs)
|
|
|
NM_012179.4(FBXO7):c.1268_1272dup (p.Tyr425fs)
|
rs749534144
|
|
NM_012179.4(FBXO7):c.133C>T (p.Arg45Ter)
|
|
|
NM_012179.4(FBXO7):c.1344T>A (p.Tyr448Ter)
|
|
|
NM_012179.4(FBXO7):c.1408G>T (p.Glu470Ter)
|
|
|
NM_012179.4(FBXO7):c.1451del (p.Pro484fs)
|
|
|
NM_012179.4(FBXO7):c.1492C>T (p.Arg498Ter)
|
rs121918304
|
|
NM_012179.4(FBXO7):c.156C>G (p.Tyr52Ter)
|
|
|
NM_012179.4(FBXO7):c.1A>C (p.Met1Leu)
|
|
|
NM_012179.4(FBXO7):c.1A>G (p.Met1Val)
|
|
|
NM_012179.4(FBXO7):c.269_270del (p.Ser90fs)
|
|
|
NM_012179.4(FBXO7):c.2T>A (p.Met1Lys)
|
|
|
NM_012179.4(FBXO7):c.2T>G (p.Met1Arg)
|
|
|
NM_012179.4(FBXO7):c.316_317del (p.Leu106fs)
|
|
|
NM_012179.4(FBXO7):c.377del (p.Gly126fs)
|
|
|
NM_012179.4(FBXO7):c.497C>G (p.Ser166Ter)
|
|
|
NM_012179.4(FBXO7):c.521C>A (p.Ser174Ter)
|
|
|
NM_012179.4(FBXO7):c.544dup (p.Ser182fs)
|
|
|
NM_012179.4(FBXO7):c.564_567del (p.Ser189fs)
|
|
|
NM_012179.4(FBXO7):c.575_576del (p.Cys192fs)
|
|
|
NM_012179.4(FBXO7):c.65C>T (p.Thr22Met)
|
rs121918305
|
|
NM_012179.4(FBXO7):c.709C>T (p.Gln237Ter)
|
|
|
NM_012179.4(FBXO7):c.726_727del (p.Cys243fs)
|
rs1290655316
|
|
NM_012179.4(FBXO7):c.821_822del (p.Val274fs)
|
|
|
NM_012179.4(FBXO7):c.893_894insT (p.Lys299fs)
|
|
|
NM_012179.4(FBXO7):c.915_916del (p.Arg306fs)
|
|
|
NM_012179.4(FBXO7):c.917_918del (p.Arg306fs)
|
|
|
NM_012179.4(FBXO7):c.925A>T (p.Lys309Ter)
|
|
|
NM_018206.6(VPS35):c.1858G>A (p.Asp620Asn)
|
rs188286943
|
|
NM_022089.4(ATP13A2):c.1033_1034del (p.Leu345fs)
|
|
|
NM_022089.4(ATP13A2):c.1113del (p.His372fs)
|
rs1377055875
|
|
NM_022089.4(ATP13A2):c.1296dup (p.Ser433fs)
|
|
|
NM_022089.4(ATP13A2):c.1306+5G>A
|
rs786205056
|
|
NM_022089.4(ATP13A2):c.1378del (p.Arg460fs)
|
|
|
NM_022089.4(ATP13A2):c.1825G>T (p.Glu609Ter)
|
|
|
NM_022089.4(ATP13A2):c.1932del (p.Ala646fs)
|
|
|
NM_022089.4(ATP13A2):c.2113C>T (p.Gln705Ter)
|
|
|
NM_022089.4(ATP13A2):c.213G>A (p.Trp71Ter)
|
|
|
NM_022089.4(ATP13A2):c.2146del (p.Asp715_Leu716insTer)
|
rs2100768788
|
|
NM_022089.4(ATP13A2):c.217del (p.Val73fs)
|
|
|
NM_022089.4(ATP13A2):c.217dup (p.Val73fs)
|
|
|
NM_022089.4(ATP13A2):c.2587del (p.Val863fs)
|
|
|
NM_022089.4(ATP13A2):c.3136G>T (p.Glu1046Ter)
|
rs1557666781
|
|
NM_022089.4(ATP13A2):c.3153dup (p.Ser1052fs)
|
|
|
NM_022089.4(ATP13A2):c.3157_3158del (p.Leu1053fs)
|
rs1570759415
|
|
NM_022089.4(ATP13A2):c.409del (p.Val137fs)
|
rs2077487643
|
|
NM_022089.4(ATP13A2):c.533_536dup (p.Gln179fs)
|
|
|
NM_022089.4(ATP13A2):c.572dup (p.Arg192fs)
|
|
|
NM_022089.4(ATP13A2):c.604del (p.His202fs)
|
|
|
NM_022089.4(ATP13A2):c.619C>T (p.Gln207Ter)
|
rs1483668823
|
|
NM_022089.4(ATP13A2):c.774G>A (p.Trp258Ter)
|
|
|
NM_022089.4(ATP13A2):c.965del (p.Gln322fs)
|
|
|
NM_025243.4(SLC19A3):c.1079dup (p.Leu360fs)
|
rs1559247315
|
|
NM_025243.4(SLC19A3):c.1164del (p.Thr388_Ile389insTer)
|
rs2106325859
|
|
NM_025243.4(SLC19A3):c.1212dup (p.Val406fs)
|
|
|
NM_025243.4(SLC19A3):c.1257del (p.Ile420fs)
|
rs2106318158
|
|
NM_025243.4(SLC19A3):c.125dup (p.Asp43fs)
|
|
|
NM_025243.4(SLC19A3):c.1264A>G (p.Thr422Ala)
|
rs121917884
|
|
NM_025243.4(SLC19A3):c.129dup (p.Lys44Ter)
|
|
|
NM_025243.4(SLC19A3):c.12C>G (p.Tyr4Ter)
|
|
|
NM_025243.4(SLC19A3):c.160G>T (p.Glu54Ter)
|
|
|
NM_025243.4(SLC19A3):c.171del (p.Val58fs)
|
rs2106329702
|
|
NM_025243.4(SLC19A3):c.177G>A (p.Trp59Ter)
|
|
|
NM_025243.4(SLC19A3):c.189C>A (p.Tyr63Ter)
|
rs1559250774
|
|
NM_025243.4(SLC19A3):c.36G>A (p.Trp12Ter)
|
rs778816786
|
|
NM_025243.4(SLC19A3):c.384C>G (p.Tyr128Ter)
|
rs746490830
|
|
NM_025243.4(SLC19A3):c.426del (p.Cys143fs)
|
rs2106329218
|
|
NM_025243.4(SLC19A3):c.475C>T (p.Gln159Ter)
|
|
|
NM_025243.4(SLC19A3):c.507C>G (p.Tyr169Ter)
|
|
|
NM_025243.4(SLC19A3):c.513C>A (p.Tyr171Ter)
|
|
|
NM_025243.4(SLC19A3):c.597del (p.His200fs)
|
|
|
NM_025243.4(SLC19A3):c.597dup (p.His200fs)
|
rs773140674
|
|
NM_025243.4(SLC19A3):c.623_626del (p.Lys208fs)
|
|
|
NM_025243.4(SLC19A3):c.701del (p.Thr234fs)
|
|
|
NM_025243.4(SLC19A3):c.74dup (p.Ser26fs)
|
rs786205213
|
|
NM_025243.4(SLC19A3):c.776_777del (p.Val259fs)
|
rs2106328737
|
|
NM_025243.4(SLC19A3):c.795G>A (p.Trp265Ter)
|
|
|
NM_025243.4(SLC19A3):c.816C>A (p.Cys272Ter)
|
|
|
NM_025243.4(SLC19A3):c.856del (p.Ala286fs)
|
|
|
NM_025243.4(SLC19A3):c.885_888dup (p.Asn297fs)
|
|
|
NM_032409.3(PINK1):c.1155_1156insTGCCCGCGTCCCTTTCTCCATAAAATTCTTCTTAGTAGCTA (p.Gly386delinsCysProArgProPheLeuHisLysIleLeuLeuSerSerTer)
|
|
|
NM_032409.3(PINK1):c.1252-1G>A
|
rs2053228483
|
|
NM_032409.3(PINK1):c.1329del (p.Tyr444fs)
|
rs775479526
|
|
NM_032409.3(PINK1):c.1501C>T (p.Arg501Ter)
|
|
|
NM_032409.3(PINK1):c.1600C>T (p.Gln534Ter)
|
|
|
NM_032409.3(PINK1):c.309del (p.Phe104fs)
|
|
|
NM_032409.3(PINK1):c.599del (p.Ala200fs)
|
rs1557561340
|
|
NM_032409.3(PINK1):c.666G>A (p.Trp222Ter)
|
rs2154533643
|
|
NM_032409.3(PINK1):c.710del (p.Met237fs)
|
|
|
NM_032409.3(PINK1):c.736C>T (p.Arg246Ter)
|
rs74315357
|
|
NM_032409.3(PINK1):c.85_106del (p.Tyr29fs)
|
rs1480758482
|
|
NM_152296.5(ATP1A3):c.1072G>A (p.Gly358Ser)
|
rs606231432
|
|
NM_152296.5(ATP1A3):c.1072G>T (p.Gly358Cys)
|
rs606231432
|
|
NM_152296.5(ATP1A3):c.1073G>A (p.Gly358Asp)
|
rs1555863693
|
|
NM_152296.5(ATP1A3):c.1088T>C (p.Ile363Thr)
|
rs2145972483
|
|
NM_152296.5(ATP1A3):c.1299del (p.Lys434fs)
|
|
|
NM_152296.5(ATP1A3):c.1429A>T (p.Lys477Ter)
|
rs2145971509
|
|
NM_152296.5(ATP1A3):c.1784_1792del (p.Lys595_Arg597del)
|
|
|
NM_152296.5(ATP1A3):c.1838C>T (p.Thr613Met)
|
|
|
NM_152296.5(ATP1A3):c.1930C>T (p.Gln644Ter)
|
rs1555861946
|
|
NM_152296.5(ATP1A3):c.1959C>A (p.Cys653Ter)
|
rs782105093
|
|
NM_152296.5(ATP1A3):c.2116G>A (p.Gly706Arg)
|
rs782175860
|
|
NM_152296.5(ATP1A3):c.2116G>C (p.Gly706Arg)
|
|
|
NM_152296.5(ATP1A3):c.2144T>C (p.Leu715Pro)
|
rs2075159021
|
|
NM_152296.5(ATP1A3):c.2153C>A (p.Ala718Asp)
|
rs2075158829
|
|
NM_152296.5(ATP1A3):c.2167G>C (p.Ala723Pro)
|
|
|
NM_152296.5(ATP1A3):c.2224GAC[1] (p.Asp743del)
|
|
|
NM_152296.5(ATP1A3):c.2263G>A (p.Gly755Ser)
|
rs557052809
|
|
NM_152296.5(ATP1A3):c.2263G>T (p.Gly755Cys)
|
rs557052809
|
|
NM_152296.5(ATP1A3):c.2264G>C (p.Gly755Ala)
|
rs606231434
|
|
NM_152296.5(ATP1A3):c.2266C>T (p.Arg756Cys)
|
rs1064797245
|
|
NM_152296.5(ATP1A3):c.2267G>A (p.Arg756His)
|
rs606231435
|
|
NM_152296.5(ATP1A3):c.2315G>A (p.Ser772Asn)
|
rs1064795234
|
|
NM_152296.5(ATP1A3):c.2318A>G (p.Asn773Ser)
|
rs606231437
|
|
NM_152296.5(ATP1A3):c.2324C>T (p.Pro775Leu)
|
rs886041396
|
|
NM_152296.5(ATP1A3):c.2401G>A (p.Asp801Asn)
|
|
|
NM_152296.5(ATP1A3):c.2401G>T (p.Asp801Tyr)
|
rs80356537
|
|
NM_152296.5(ATP1A3):c.2408G>A (p.Gly803Asp)
|
rs1555859571
|
|
NM_152296.5(ATP1A3):c.2415C>G (p.Asp805Glu)
|
rs606231439
|
|
NM_152296.5(ATP1A3):c.2431T>C (p.Ser811Pro)
|
rs387907282
|
|
NM_152296.5(ATP1A3):c.2443G>A (p.Glu815Lys)
|
rs387907281
|
|
NM_152296.5(ATP1A3):c.2452G>A (p.Glu818Lys)
|
rs587777771
|
|
NM_152296.5(ATP1A3):c.2542+1G>A
|
rs606231441
|
|
NM_152296.5(ATP1A3):c.2542+1G>C
|
rs606231441
|
|
NM_152296.5(ATP1A3):c.2652dup (p.Val885fs)
|
rs2145945849
|
|
NM_152296.5(ATP1A3):c.266G>C (p.Gly89Ala)
|
rs1599725621
|
|
NM_152296.5(ATP1A3):c.2673_2678del (p.Ser891_Gly893delinsArg)
|
rs2145945805
|
|
NM_152296.5(ATP1A3):c.2677G>A (p.Gly893Arg)
|
rs1568853466
|
|
NM_152296.5(ATP1A3):c.2752GTC[1] (p.Val919del)
|
rs606231443
|
|
NM_152296.5(ATP1A3):c.2759A>C (p.Gln920Pro)
|
|
|
NM_152296.5(ATP1A3):c.2763G>A (p.Trp921Ter)
|
rs1060500993
|
|
NM_152296.5(ATP1A3):c.2767G>A (p.Asp923Asn)
|
rs267606670
|
|
NM_152296.5(ATP1A3):c.2767G>T (p.Asp923Tyr)
|
rs267606670
|
|
NM_152296.5(ATP1A3):c.2768A>C (p.Asp923Ala)
|
rs2075071528
|
|
NM_152296.5(ATP1A3):c.2771T>C (p.Leu924Pro)
|
rs1555859157
|
|
NM_152296.5(ATP1A3):c.281T>C (p.Leu94Pro)
|
|
|
NM_152296.5(ATP1A3):c.2839G>A (p.Gly947Arg)
|
rs398122887
|
|
NM_152296.5(ATP1A3):c.2839G>C (p.Gly947Arg)
|
rs398122887
|
|
NM_152296.5(ATP1A3):c.2839G>T (p.Gly947Trp)
|
rs398122887
|
|
NM_152296.5(ATP1A3):c.2902del (p.Leu968fs)
|
|
|
NM_152296.5(ATP1A3):c.2966_2996del (p.Phe989fs)
|
|
|
NM_152296.5(ATP1A3):c.3013+1G>A
|
rs2145941195
|
|
NM_152296.5(ATP1A3):c.410C>A (p.Ser137Tyr)
|
rs542652468
|
|
NM_152296.5(ATP1A3):c.410C>T (p.Ser137Phe)
|
rs542652468
|
|
NM_152296.5(ATP1A3):c.562C>T (p.Arg188Ter)
|
rs2075282510
|
|
NM_152296.5(ATP1A3):c.829G>A (p.Glu277Lys)
|
rs80356533
|
|
NM_152296.5(ATP1A3):c.946G>A (p.Gly316Ser)
|
rs869320661
|
|
NM_152296.5(ATP1A3):c.954C>G (p.Ile318Met)
|
rs529241207
|
|
NM_152296.5(ATP1A3):c.958G>C (p.Ala320Pro)
|
rs879255368
|
|
NM_152296.5(ATP1A3):c.967C>T (p.Pro323Ser)
|
rs864309572
|
|
NM_152296.5(ATP1A3):c.977T>G (p.Leu326Arg)
|
rs1131691307
|
|
NM_198578.4(LRRK2):c.4321C>G (p.Arg1441Gly)
|
rs33939927
|
|
NM_203446.2(SYNJ1):c.24G>A (p.Trp8Ter)
|
rs1569147057
|
|
NM_203446.2(SYNJ1):c.7delA (p.Lys3Argfs)
|
|
|
NM_203446.3(SYNJ1):c.1066C>T (p.Gln356Ter)
|
|
|
NM_203446.3(SYNJ1):c.1093dup (p.Tyr365fs)
|
rs1419316294
|
|
NM_203446.3(SYNJ1):c.1213C>T (p.Gln405Ter)
|
|
|
NM_203446.3(SYNJ1):c.1279_1280dup (p.Met428fs)
|
rs2146047336
|
|
NM_203446.3(SYNJ1):c.1480C>T (p.Arg494Ter)
|
|
|
NM_203446.3(SYNJ1):c.1696_1699del (p.Pro566fs)
|
rs2145981153
|
|
NM_203446.3(SYNJ1):c.1918_1921del (p.Val640fs)
|
rs1488690709
|
|
NM_203446.3(SYNJ1):c.2125C>T (p.Arg709Ter)
|
|
|
NM_203446.3(SYNJ1):c.2242C>T (p.Gln748Ter)
|
|
|
NM_203446.3(SYNJ1):c.2619dup (p.Glu874Ter)
|
|
|
NM_203446.3(SYNJ1):c.2896_2897del (p.Ile966fs)
|
|
|
NM_203446.3(SYNJ1):c.295del (p.Thr99fs)
|
rs2146213651
|
|
NM_203446.3(SYNJ1):c.3126del (p.Ser1043fs)
|
rs1230133310
|
|
NM_203446.3(SYNJ1):c.3438dup (p.Ala1147fs)
|
rs2145756643
|
|
NM_203446.3(SYNJ1):c.3457del (p.Gly1152_Val1153insTer)
|
rs2039933328
|
|
NM_203446.3(SYNJ1):c.345del (p.Ile116fs)
|
rs2146213143
|
|
NM_203446.3(SYNJ1):c.3656dup (p.Thr1220fs)
|
|
|
NM_203446.3(SYNJ1):c.748C>T (p.Arg250Ter)
|
rs1160469053
|
|