NM_004562.3(PRKN):c.1180G>A (p.Asp394Asn)
|
rs1801334
|
0.02570
|
NM_004562.3(PRKN):c.*94A>G
|
rs62637702
|
0.02462
|
NM_004562.3(PRKN):c.934-142C>T
|
rs117828575
|
0.02130
|
NM_004562.3(PRKN):c.172-17dup
|
rs776880599
|
0.01724
|
NM_004562.3(PRKN):c.*1695G>A
|
rs77283740
|
0.01596
|
NM_004562.3(PRKN):c.934-206G>T
|
rs114928122
|
0.01432
|
NM_004562.3(PRKN):c.783A>G (p.Leu261=)
|
rs9456711
|
0.01329
|
NM_004562.3(PRKN):c.933+43A>G
|
rs77112335
|
0.01269
|
NM_004562.3(PRKN):c.933+67G>T
|
rs115979402
|
0.01194
|
NM_004562.3(PRKN):c.*1252C>T
|
rs77926621
|
0.01179
|
NM_004562.3(PRKN):c.1286-237C>T
|
rs78691111
|
0.01156
|
NM_004562.3(PRKN):c.933+101T>C
|
rs113114509
|
0.01133
|
NM_004562.3(PRKN):c.933+83G>A
|
rs75008325
|
0.01065
|
NM_004562.3(PRKN):c.934-195C>T
|
rs111675670
|
0.01039
|
NM_004562.3(PRKN):c.934-158G>A
|
rs148786996
|
0.01026
|
NM_004562.3(PRKN):c.957T>C (p.Gly319=)
|
rs144340740
|
0.01025
|
NM_004562.3(PRKN):c.1083+124C>T
|
rs182993010
|
0.01020
|
NM_004562.3(PRKN):c.*1462C>A
|
rs11961229
|
0.00787
|
NM_004562.3(PRKN):c.*1407C>T
|
rs11961237
|
0.00780
|
NM_004562.3(PRKN):c.933+237G>A
|
rs142648157
|
0.00774
|
NM_004562.3(PRKN):c.872-58A>G
|
rs143283042
|
0.00770
|
NM_004562.3(PRKN):c.933+93C>T
|
rs139796936
|
0.00770
|
NM_004562.3(PRKN):c.872-60G>C
|
rs150733619
|
0.00745
|
NM_004562.3(PRKN):c.*2187C>T
|
rs116309008
|
0.00713
|
NM_004562.3(PRKN):c.*2354C>T
|
rs191130749
|
0.00685
|
NM_004562.3(PRKN):c.*2217G>A
|
rs138660139
|
0.00678
|
NM_004562.3(PRKN):c.*1909G>A
|
rs148426411
|
0.00674
|
NM_004562.3(PRKN):c.171+62G>A
|
rs113698817
|
0.00654
|
NM_004562.3(PRKN):c.136G>A (p.Ala46Thr)
|
rs75860381
|
0.00621
|
NM_004562.3(PRKN):c.872-96G>A
|
rs73782939
|
0.00581
|
NM_004562.3(PRKN):c.735-333A>C
|
rs147645912
|
0.00572
|
NM_004562.3(PRKN):c.619-100T>C
|
rs139315438
|
0.00543
|
NM_004562.3(PRKN):c.735-99_735-97del
|
rs533492948
|
0.00536
|
NM_004562.3(PRKN):c.735-96_735-95insG
|
rs541050753
|
0.00535
|
NM_004562.3(PRKN):c.714C>T (p.Cys238=)
|
rs114974496
|
0.00357
|
NM_004562.3(PRKN):c.101A>G (p.Gln34Arg)
|
rs148851677
|
0.00303
|
NM_004562.3(PRKN):c.734+131C>A
|
rs533661719
|
0.00280
|
NM_004562.3(PRKN):c.1310C>T (p.Pro437Leu)
|
rs149953814
|
0.00223
|
NM_004562.3(PRKN):c.1204C>T (p.Arg402Cys)
|
rs55830907
|
0.00191
|
NM_004562.3(PRKN):c.*15C>A
|
rs35125035
|
0.00163
|
NM_004562.3(PRKN):c.919C>T (p.Leu307=)
|
rs138920699
|
0.00076
|
NM_004562.3(PRKN):c.52G>A (p.Asp18Asn)
|
rs146288080
|
0.00074
|
NM_004562.3(PRKN):c.1076G>A (p.Gly359Asp)
|
rs201300874
|
0.00059
|
NM_004562.3(PRKN):c.110C>T (p.Pro37Leu)
|
rs148990138
|
0.00024
|
NM_004562.3(PRKN):c.837C>T (p.His279=)
|
rs149433924
|
0.00014
|
NM_004562.3(PRKN):c.1096C>T (p.Arg366Trp)
|
rs56092260
|
0.00012
|
NM_004562.3(PRKN):c.1137C>T (p.Ala379=)
|
rs761813150
|
0.00011
|
NM_004562.3(PRKN):c.1372A>C (p.Met458Leu)
|
rs182893847
|
0.00011
|
NM_004562.3(PRKN):c.171+17G>A
|
rs370823431
|
0.00009
|
NM_004562.3(PRKN):c.735-14C>G
|
rs200157467
|
0.00009
|
NM_004562.3(PRKN):c.51C>T (p.Val17=)
|
rs148302761
|
0.00006
|
NM_004562.3(PRKN):c.744C>G (p.Val248=)
|
rs771437898
|
0.00006
|
NM_004562.3(PRKN):c.8-17C>A
|
rs552574625
|
0.00006
|
NM_004562.3(PRKN):c.228A>G (p.Lys76=)
|
rs370161857
|
0.00005
|
NM_004562.3(PRKN):c.270C>T (p.Asn90=)
|
rs767425151
|
0.00005
|
NM_004562.3(PRKN):c.1000C>T (p.Arg334Cys)
|
rs199657839
|
0.00004
|
NM_004562.3(PRKN):c.1186A>G (p.Arg396Gly)
|
rs539917500
|
0.00004
|
NM_004562.3(PRKN):c.171+16C>T
|
rs746375717
|
0.00004
|
NM_004562.3(PRKN):c.219G>A (p.Pro73=)
|
rs139083077
|
0.00004
|
NM_004562.3(PRKN):c.276G>A (p.Ala92=)
|
rs200256562
|
0.00004
|
NM_004562.3(PRKN):c.348T>C (p.Ser116=)
|
rs781149641
|
0.00004
|
NM_004562.3(PRKN):c.735-8C>T
|
rs765248676
|
0.00004
|
NM_004562.3(PRKN):c.741C>T (p.Pro247=)
|
rs149749354
|
0.00004
|
NM_004562.3(PRKN):c.814C>A (p.Leu272Ile)
|
rs141366047
|
0.00004
|
NM_004562.3(PRKN):c.1113G>A (p.Ala371=)
|
rs761535398
|
0.00002
|
NM_004562.3(PRKN):c.153G>A (p.Arg51=)
|
rs1309785126
|
0.00002
|
NM_004562.3(PRKN):c.255C>T (p.Gly85=)
|
rs769477007
|
0.00002
|
NM_004562.3(PRKN):c.720G>A (p.Thr240=)
|
rs769882260
|
0.00002
|
NM_004562.3(PRKN):c.816C>T (p.Leu272=)
|
rs143902760
|
0.00002
|
NM_004562.3(PRKN):c.1029G>A (p.Pro343=)
|
rs753655327
|
0.00001
|
NM_004562.3(PRKN):c.1119T>C (p.His373=)
|
rs1786276135
|
0.00001
|
NM_004562.3(PRKN):c.1158A>G (p.Thr386=)
|
rs756949723
|
0.00001
|
NM_004562.3(PRKN):c.1167+9T>A
|
rs771353933
|
0.00001
|
NM_004562.3(PRKN):c.124C>T (p.Arg42Cys)
|
rs577232474
|
0.00001
|
NM_004562.3(PRKN):c.1290C>T (p.Gly430=)
|
rs1267567025
|
0.00001
|
NM_004562.3(PRKN):c.1392C>T (p.Asp464=)
|
rs1371115187
|
0.00001
|
NM_004562.3(PRKN):c.273G>A (p.Ala91=)
|
rs781619606
|
0.00001
|
NM_004562.3(PRKN):c.412+15C>G
|
rs1008170274
|
0.00001
|
NM_004562.3(PRKN):c.535-5C>T
|
rs1777765086
|
0.00001
|
NM_004562.3(PRKN):c.618+7A>T
|
rs1582961958
|
0.00001
|
NM_004562.3(PRKN):c.663A>G (p.Glu221=)
|
rs551801791
|
0.00001
|
NM_004562.3(PRKN):c.735-9T>C
|
rs1218915916
|
0.00001
|
NM_004562.3(PRKN):c.742G>A (p.Val248Ile)
|
rs777074432
|
0.00001
|
GRCh37/hg19 6q26(chr6:161836241-162000352)x1
|
|
|
GRCh37/hg19 6q26(chr6:162125751-162347138)x1
|
|
|
GRCh37/hg19 6q26(chr6:162178475-162289828)x1
|
|
|
GRCh37/hg19 6q26(chr6:162412136-162546042)x1
|
|
|
GRCh37/hg19 6q26(chr6:162584753-162713427)x1
|
|
|
GRCh37/hg19 6q26(chr6:162724247-162914986)x3
|
|
|
GRCh38/hg38 6q26(chr6:162232971-162629368)x3
|
|
|
NM_004562.3(PRKN):c.*96GC[7]
|
rs544293869
|
|
NM_004562.3(PRKN):c.1041G>A (p.Gln347=)
|
rs766121894
|
|
NM_004562.3(PRKN):c.1071C>G (p.Gly357=)
|
rs878854707
|
|
NM_004562.3(PRKN):c.1083+11C>T
|
|
|
NM_004562.3(PRKN):c.1167+8A>G
|
rs1583004948
|
|
NM_004562.3(PRKN):c.1170C>A (p.Ala390=)
|
|
|
NM_004562.3(PRKN):c.1191C>T (p.Ala397=)
|
|
|
NM_004562.3(PRKN):c.1194C>T (p.Ala398=)
|
|
|
NM_004562.3(PRKN):c.1251C>T (p.Pro417=)
|
|
|
NM_004562.3(PRKN):c.125G>A (p.Arg42His)
|
rs368134308
|
|
NM_004562.3(PRKN):c.1269A>G (p.Val423=)
|
|
|
NM_004562.3(PRKN):c.1317C>A (p.Pro439=)
|
|
|
NM_004562.3(PRKN):c.1329C>T (p.Leu443=)
|
|
|
NM_004562.3(PRKN):c.135C>T (p.Phe45=)
|
|
|
NM_004562.3(PRKN):c.171+15G>A
|
rs997074952
|
|
NM_004562.3(PRKN):c.171+220GA[4]
|
rs199898133
|
|
NM_004562.3(PRKN):c.172-18T>A
|
rs778021436
|
|
NM_004562.3(PRKN):c.172-30_172-18del
|
rs751742289
|
|
NM_004562.3(PRKN):c.174T>C (p.Asn58=)
|
rs536687809
|
|
NM_004562.3(PRKN):c.245C>A (p.Ala82Glu)
|
rs55774500
|
|
NM_004562.3(PRKN):c.279A>G (p.Gly93=)
|
|
|
NM_004562.3(PRKN):c.279A>T (p.Gly93=)
|
|
|
NM_004562.3(PRKN):c.336C>A (p.Leu112=)
|
rs2128100054
|
|
NM_004562.3(PRKN):c.355C>T (p.Leu119=)
|
rs376992611
|
|
NM_004562.3(PRKN):c.534+30930_534+30933del
|
rs553344388
|
|
NM_004562.3(PRKN):c.591A>G (p.Gln197=)
|
|
|
NM_004562.3(PRKN):c.7+32919T>C
|
|
|
NM_004562.3(PRKN):c.734+13_734+15del
|
|
|
NM_004562.3(PRKN):c.734+9C>T
|
|
|
NM_004562.3(PRKN):c.741C>A (p.Pro247=)
|
rs149749354
|
|
NM_004562.3(PRKN):c.795C>T (p.His265=)
|
rs942973988
|
|
NM_004562.3(PRKN):c.8-14A>C
|
|
|
NM_004562.3(PRKN):c.823C>A (p.Arg275=)
|
|
|
NM_004562.3(PRKN):c.871+69692G>T
|
|
|
NM_004562.3(PRKN):c.933+19G>A
|
|
|
NM_004562.3(PRKN):c.933+20G>A
|
|
|
NM_004562.3(PRKN):c.942G>A (p.Arg314=)
|
|
|
NM_004562.3(PRKN):c.942G>T (p.Arg314=)
|
|
|
NM_004562.3(PRKN):c.993A>G (p.Leu331=)
|
|
|