NM_004562.3(PRKN):c.823C>T (p.Arg275Trp)
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rs34424986
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0.00226
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NM_004562.3(PRKN):c.101_102del (p.Gln34fs)
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rs55777503
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0.00027
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NM_004562.3(PRKN):c.110C>T (p.Pro37Leu)
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rs148990138
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0.00024
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NM_004562.3(PRKN):c.337_376del (p.Pro113fs)
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rs771529549
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0.00016
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NM_004562.3(PRKN):c.719C>T (p.Thr240Met)
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rs137853054
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0.00016
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NM_004562.3(PRKN):c.1289G>A (p.Gly430Asp)
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rs191486604
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0.00013
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NM_004562.3(PRKN):c.167T>A (p.Val56Glu)
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rs137853059
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0.00006
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NM_004562.3(PRKN):c.98G>A (p.Arg33Gln)
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rs147757966
|
0.00006
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NM_004562.3(PRKN):c.1321T>C (p.Cys441Arg)
|
rs778305273
|
0.00005
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NM_004562.3(PRKN):c.633A>T (p.Lys211Asn)
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rs137853060
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0.00002
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NM_004562.3(PRKN):c.758G>A (p.Cys253Tyr)
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rs747427602
|
0.00002
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NM_004562.3(PRKN):c.635G>A (p.Cys212Tyr)
|
rs137853058
|
0.00001
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NM_004562.3(PRKN):c.850G>C (p.Gly284Arg)
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rs751037529
|
0.00001
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NM_004562.3(PRKN):c.872-1G>C
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rs772074730
|
0.00001
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NM_004562.3(PRKN):c.97C>T (p.Arg33Ter)
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rs770591350
|
0.00001
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GRCh37/hg19 6q26(chr6:161969922-161990424)
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GRCh37/hg19 6q26(chr6:162137107-162137163)
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GRCh37/hg19 6q26(chr6:162394320-162475157)
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GRCh37/hg19 6q26(chr6:162394334-162622284)x1
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GRCh37/hg19 6q26(chr6:162614287-162660066)x1
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GRCh37/hg19 6q26(chr6:162622150-162622256)
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GRCh37/hg19 6q26(chr6:162622150-162683772)
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GRCh37/hg19 6q26(chr6:162622163-162864505)x1
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GRCh37/hg19 6q26(chr6:162638345-162754162)x0
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GRCh37/hg19 6q26(chr6:162683557-162683797)x0
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GRCh37/hg19 6q26(chr6:162864342-162864505)x1
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GRCh37/hg19 6q26(chr6:162864400-162864441)
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NC_000006.11:g.(?_161771131)_(161807929_?)del
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NC_000006.11:g.(?_161969866)_(161990468_?)del
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NC_000006.11:g.(?_162206784)_(162206960_?)dup
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NC_000006.11:g.(?_162206794)_(162206950_?)del
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NC_000006.11:g.(?_162206794)_(162206950_?)dup
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NC_000006.11:g.(?_162394314)_(162394469_?)del
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NC_000006.11:g.(?_162394314)_(162475226_?)dup
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NC_000006.11:g.(?_162394314)_(162683817_?)del
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NC_000006.11:g.(?_162394314)_(162864525_?)del
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NC_000006.11:g.(?_162394324)_(162475216_?)dup
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NC_000006.11:g.(?_162474785)_(162475494_?)del
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NC_000006.11:g.(?_162475113)_(162864519_?)del
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NC_000006.11:g.(?_162622143)_(162864525_?)del
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NC_000006.11:g.(?_162622143)_(162864525_?)dup
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NC_000006.11:g.(?_162683537)_(162683817_?)dup
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NC_000006.11:g.(?_162683547)_(162683807_?)dup
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NC_000006.11:g.(?_162864322)_(162864525_?)dup
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NC_000006.11:g.(?_162864322)_(162868359_?)del
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NC_000006.11:g.(?_162864332)_(162864519_?)del
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NC_000006.11:g.(?_162864332)_(162864519_?)dup
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NC_000006.12:g.(?_161548844)_(161569426_?)del
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NC_000006.12:g.(?_161569335)_(161569436_?)del
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NC_000006.12:g.(?_161785752)_(161973437_?)del
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NC_000006.12:g.(?_161973292)_(161973427_?)del
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NC_000006.12:g.(?_161973292)_(161973427_?)dup
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NC_000006.12:g.(?_162054091)_(162054174_?)del
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NC_000006.12:g.(?_162201121)_(162201262_?)del
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NC_000006.12:g.(?_162201121)_(162443487_?)del
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NC_000006.12:g.(?_162262505)_(162262785_?)del
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NC_000006.12:g.(?_162262505)_(162443493_?)del
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NC_000006.12:g.(?_162262515)_(162262775_?)del
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NC_000006.12:g.(?_162262515)_(162443487_?)del
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NC_000006.12:g.(?_162262525)_(162275409_?)dup
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NM_004562.2(PRKN):c.735-?_871+?del
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NM_004562.2(PRKN):c.8-?_171+?del
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NM_004562.2(PRKN):c.872-?_1083+?del
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NM_004562.3(PRKN):c.101del (p.Gln34fs)
|
rs748142049
|
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NM_004562.3(PRKN):c.1046_1047del (p.Lys349fs)
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NM_004562.3(PRKN):c.1083+1del
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rs2115426221
|
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NM_004562.3(PRKN):c.125G>C (p.Arg42Pro)
|
rs368134308
|
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NM_004562.3(PRKN):c.1286-3C>G
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|
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NM_004562.3(PRKN):c.1292G>T (p.Cys431Phe)
|
rs397514694
|
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NM_004562.3(PRKN):c.1334G>A (p.Trp445Ter)
|
rs961239925
|
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NM_004562.3(PRKN):c.1352del (p.Cys451fs)
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|
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NM_004562.3(PRKN):c.1358G>A (p.Trp453Ter)
|
rs137853056
|
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NM_004562.3(PRKN):c.1359G>A (p.Trp453Ter)
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|
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NM_004562.3(PRKN):c.155del (p.Asn52fs)
|
rs754809877
|
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NM_004562.3(PRKN):c.220_221dup (p.Trp74fs)
|
rs746646126
|
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NM_004562.3(PRKN):c.245C>A (p.Ala82Glu)
|
rs55774500
|
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NM_004562.3(PRKN):c.560T>G (p.Leu187Ter)
|
rs1562485799
|
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NM_004562.3(PRKN):c.601_602insA (p.Cys201Ter)
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|
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NM_004562.3(PRKN):c.618+7842_618+7934inv
|
|
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NM_004562.3(PRKN):c.719C>G (p.Thr240Arg)
|
rs137853054
|
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NM_004562.3(PRKN):c.73C>T (p.Gln25Ter)
|
rs1440010564
|
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NM_004562.3(PRKN):c.743del (p.Val248fs)
|
rs1790398941
|
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NM_004562.3(PRKN):c.804T>A (p.Cys268Ter)
|
rs377554392
|
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NM_004562.3(PRKN):c.844C>T (p.Gln282Ter)
|
|
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NM_004562.3(PRKN):c.931C>T (p.Gln311Ter)
|
rs137853055
|
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NM_004562.3(PRKN):c.971del (p.Val324fs)
|
rs1562519380
|
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NM_004562.3:c.536_735del
|
|
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NM_013988.3:c.(?_171+24726)_(424+11283_?)del
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