NM_004562.3(PRKN):c.934-196A>T
|
rs509495
|
0.85881
|
NM_004562.3(PRKN):c.872-68C>G
|
rs3765475
|
0.67020
|
NM_004562.3(PRKN):c.872-230G>A
|
rs3765476
|
0.58773
|
NM_004562.3(PRKN):c.871+90882A>T
|
rs969759
|
0.56947
|
NM_004562.3(PRKN):c.872-35G>A
|
rs3765474
|
0.54760
|
NM_004562.3(PRKN):c.8-3854C>G
|
rs12193297
|
0.45732
|
NM_004562.3(PRKN):c.172-79G>A
|
rs7744798
|
0.41970
|
NM_004562.3(PRKN):c.171+25T>C
|
rs2075923
|
0.28900
|
NM_004562.3(PRKN):c.871+69657G>A
|
rs77332950
|
0.21089
|
NM_004562.3(PRKN):c.618+230T>C
|
rs9456734
|
0.18752
|
NM_004562.3(PRKN):c.535-77C>T
|
rs41268561
|
0.12680
|
NM_004562.3(PRKN):c.172-19T>A
|
rs771310483
|
0.07440
|
NM_004562.3(PRKN):c.735-58C>T
|
rs9458372
|
0.07096
|
NM_004562.3(PRKN):c.412+317G>C
|
rs77531763
|
0.06107
|
NM_004562.3(PRKN):c.1286-169A>G
|
rs80033990
|
0.04279
|
NM_004562.3(PRKN):c.*320C>A
|
rs71653628
|
0.03819
|
NM_004562.3(PRKN):c.171+248C>T
|
rs112942853
|
0.03364
|
NM_004562.3(PRKN):c.111G>A (p.Pro37=)
|
rs77795533
|
0.03342
|
NM_004562.3(PRKN):c.172-211T>G
|
rs80315562
|
0.03028
|
NM_004562.3(PRKN):c.1167+174G>T
|
rs61498215
|
0.02992
|
NM_004562.3(PRKN):c.1083+125A>G
|
rs115564174
|
0.02792
|
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.574A>C (p.Met192Leu)
|
rs9456735
|
0.01850
|
NM_004562.3(PRKN):c.1083+173A>C
|
rs79128468
|
0.01765
|
NM_004562.3(PRKN):c.1168-165C>T
|
rs2314127
|
0.01735
|
NM_004562.3(PRKN):c.172-17dup
|
rs776880599
|
0.01724
|
NM_004562.3(PRKN):c.1084-202A>G
|
rs73606906
|
0.01511
|
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.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.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.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.48G>A (p.Glu16=)
|
rs143477190
|
0.00270
|
NM_004562.3(PRKN):c.823C>T (p.Arg275Trp)
|
rs34424986
|
0.00226
|
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.799T>C (p.Tyr267His)
|
rs114696251
|
0.00055
|
NM_004562.3(PRKN):c.766C>T (p.Arg256Cys)
|
rs150562946
|
0.00046
|
NM_004562.3(PRKN):c.535-9T>A
|
rs201039350
|
0.00038
|
NM_004562.3(PRKN):c.101_102del (p.Gln34fs)
|
rs55777503
|
0.00027
|
NM_004562.3(PRKN):c.110C>T (p.Pro37Leu)
|
rs148990138
|
0.00024
|
NM_004562.3(PRKN):c.930G>C (p.Glu310Asp)
|
rs72480423
|
0.00018
|
NM_004562.3(PRKN):c.337_376del (p.Pro113fs)
|
rs771529549
|
0.00016
|
NM_004562.3(PRKN):c.719C>T (p.Thr240Met)
|
rs137853054
|
0.00016
|
NM_004562.3(PRKN):c.837C>T (p.His279=)
|
rs149433924
|
0.00014
|
NM_004562.3(PRKN):c.1289G>A (p.Gly430Asp)
|
rs191486604
|
0.00013
|
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.247A>G (p.Thr83Ala)
|
rs141825163
|
0.00010
|
NM_004562.3(PRKN):c.701G>A (p.Arg234Gln)
|
rs144032774
|
0.00010
|
NM_004562.3(PRKN):c.171+17G>A
|
rs370823431
|
0.00009
|
NM_004562.3(PRKN):c.727G>A (p.Asp243Asn)
|
rs146173584
|
0.00009
|
NM_004562.3(PRKN):c.735-14C>G
|
rs200157467
|
0.00009
|
NM_004562.3(PRKN):c.1083+18C>T
|
rs777171316
|
0.00006
|
NM_004562.3(PRKN):c.1112C>T (p.Ala371Val)
|
rs375036403
|
0.00006
|
NM_004562.3(PRKN):c.167T>A (p.Val56Glu)
|
rs137853059
|
0.00006
|
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.98G>A (p.Arg33Gln)
|
rs147757966
|
0.00006
|
NM_004562.3(PRKN):c.1321T>C (p.Cys441Arg)
|
rs778305273
|
0.00005
|
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.1364G>A (p.Arg455His)
|
rs748955949
|
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.272C>T (p.Ala91Val)
|
rs528661586
|
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.353G>C (p.Gly118Ala)
|
rs144001694
|
0.00004
|
NM_004562.3(PRKN):c.730G>A (p.Val244Ile)
|
rs771259513
|
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.761A>G (p.Asn254Ser)
|
rs139600787
|
0.00004
|
NM_004562.3(PRKN):c.814C>A (p.Leu272Ile)
|
rs141366047
|
0.00004
|
NM_004562.3(PRKN):c.838G>A (p.Asp280Asn)
|
rs72480422
|
0.00004
|
NM_004562.3(PRKN):c.859C>G (p.Leu287Val)
|
rs762130249
|
0.00004
|
NM_004562.3(PRKN):c.988G>A (p.Val330Met)
|
rs749768565
|
0.00004
|
NM_004562.3(PRKN):c.1001G>A (p.Arg334His)
|
rs746215864
|
0.00003
|
NM_004562.3(PRKN):c.1017G>A (p.Ala339=)
|
rs546676036
|
0.00003
|
NM_004562.3(PRKN):c.1097G>A (p.Arg366Gln)
|
rs761213043
|
0.00003
|
NM_004562.3(PRKN):c.1192G>A (p.Ala398Thr)
|
rs571092914
|
0.00003
|
NM_004562.3(PRKN):c.614G>A (p.Ser205Asn)
|
rs200985148
|
0.00003
|
NM_004562.3(PRKN):c.8-14A>G
|
rs769722629
|
0.00003
|
NM_004562.3(PRKN):c.848T>C (p.Leu283Pro)
|
rs56154308
|
0.00003
|
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.172-9C>G
|
rs758769558
|
0.00002
|
NM_004562.3(PRKN):c.255C>T (p.Gly85=)
|
rs769477007
|
0.00002
|
NM_004562.3(PRKN):c.633A>T (p.Lys211Asn)
|
rs137853060
|
0.00002
|
NM_004562.3(PRKN):c.720G>A (p.Thr240=)
|
rs769882260
|
0.00002
|
NM_004562.3(PRKN):c.758G>A (p.Cys253Tyr)
|
rs747427602
|
0.00002
|
NM_004562.3(PRKN):c.775A>G (p.Ile259Val)
|
rs750325162
|
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.1117C>A (p.His373Asn)
|
rs1240306663
|
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.117C>G (p.Asp39Glu)
|
rs756595206
|
0.00001
|
NM_004562.3(PRKN):c.1244C>A (p.Thr415Asn)
|
rs778125254
|
0.00001
|
NM_004562.3(PRKN):c.124C>T (p.Arg42Cys)
|
rs577232474
|
0.00001
|
NM_004562.3(PRKN):c.1259G>A (p.Arg420His)
|
rs531247345
|
0.00001
|
NM_004562.3(PRKN):c.1286-4A>G
|
rs202021008
|
0.00001
|
NM_004562.3(PRKN):c.1288G>A (p.Gly430Ser)
|
rs1226997153
|
0.00001
|
NM_004562.3(PRKN):c.1290C>T (p.Gly430=)
|
rs1267567025
|
0.00001
|
NM_004562.3(PRKN):c.1330G>C (p.Glu444Gln)
|
rs772592654
|
0.00001
|
NM_004562.3(PRKN):c.1366G>A (p.Val456Ile)
|
rs755627153
|
0.00001
|
NM_004562.3(PRKN):c.1392C>T (p.Asp464=)
|
rs1371115187
|
0.00001
|
NM_004562.3(PRKN):c.194G>A (p.Ser65Asn)
|
rs754604402
|
0.00001
|
NM_004562.3(PRKN):c.205A>G (p.Ile69Val)
|
rs766391627
|
0.00001
|
NM_004562.3(PRKN):c.273G>A (p.Ala91=)
|
rs781619606
|
0.00001
|
NM_004562.3(PRKN):c.310C>T (p.Arg104Trp)
|
rs769099303
|
0.00001
|
NM_004562.3(PRKN):c.311G>A (p.Arg104Gln)
|
rs748892763
|
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.549G>T (p.Trp183Cys)
|
rs1582962161
|
0.00001
|
NM_004562.3(PRKN):c.551A>T (p.Asp184Val)
|
rs142383136
|
0.00001
|
NM_004562.3(PRKN):c.618+7A>T
|
rs1582961958
|
0.00001
|
NM_004562.3(PRKN):c.635G>A (p.Cys212Tyr)
|
rs137853058
|
0.00001
|
NM_004562.3(PRKN):c.663A>G (p.Glu221=)
|
rs551801791
|
0.00001
|
NM_004562.3(PRKN):c.700C>T (p.Arg234Trp)
|
rs373822092
|
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
|
NM_004562.3(PRKN):c.755A>T (p.Gln252Leu)
|
rs1790398298
|
0.00001
|
NM_004562.3(PRKN):c.765C>T (p.Ser255=)
|
rs778612938
|
0.00001
|
NM_004562.3(PRKN):c.850G>C (p.Gly284Arg)
|
rs751037529
|
0.00001
|
NM_004562.3(PRKN):c.872-1G>C
|
rs772074730
|
0.00001
|
NM_004562.3(PRKN):c.904C>T (p.His302Tyr)
|
rs755749488
|
0.00001
|
NM_004562.3(PRKN):c.97C>T (p.Arg33Ter)
|
rs770591350
|
0.00001
|
GRCh37/hg19 6q26(chr6:161810908-161813159)x1
|
|
|
GRCh37/hg19 6q26(chr6:161815583-161855785)x1
|
|
|
GRCh37/hg19 6q26(chr6:161815583-161859655)x1
|
|
|
GRCh37/hg19 6q26(chr6:161815583-161860424)x1
|
|
|
GRCh37/hg19 6q26(chr6:161816660-161849789)x1
|
|
|
GRCh37/hg19 6q26(chr6:161816660-161859655)x1
|
|
|
GRCh37/hg19 6q26(chr6:161836241-162000352)x1
|
|
|
GRCh37/hg19 6q26(chr6:161904718-162038722)x1
|
|
|
GRCh37/hg19 6q26(chr6:161963572-162131676)x1
|
|
|
GRCh37/hg19 6q26(chr6:162064527-162456523)x1
|
|
|
GRCh37/hg19 6q26(chr6:162125751-162347138)x1
|
|
|
GRCh37/hg19 6q26(chr6:162178475-162289828)x1
|
|
|
GRCh37/hg19 6q26(chr6:162182126-162288538)x1
|
|
|
GRCh37/hg19 6q26(chr6:162192855-162287747)x1
|
|
|
GRCh37/hg19 6q26(chr6:162203626-162305145)x1
|
|
|
GRCh37/hg19 6q26(chr6:162212864-162530432)x1
|
|
|
GRCh37/hg19 6q26(chr6:162236075-162336354)x3
|
|
|
GRCh37/hg19 6q26(chr6:162238814-162439952)x1
|
|
|
GRCh37/hg19 6q26(chr6:162250682-162555068)x3
|
|
|
GRCh37/hg19 6q26(chr6:162283948-162735264)x1
|
|
|
GRCh37/hg19 6q26(chr6:162317097-162969924)x1
|
|
|
GRCh37/hg19 6q26(chr6:162335175-162612003)x1
|
|
|
GRCh37/hg19 6q26(chr6:162341941-162408937)x1
|
|
|
GRCh37/hg19 6q26(chr6:162358262-162702832)x3
|
|
|
GRCh37/hg19 6q26(chr6:162369855-162680559)x1
|
|
|
GRCh37/hg19 6q26(chr6:162394334-162622284)x1
|
|
|
GRCh37/hg19 6q26(chr6:162412136-162546042)x1
|
|
|
GRCh37/hg19 6q26(chr6:162422086-162651797)x1
|
|
|
GRCh37/hg19 6q26(chr6:162422242-162643440)x3
|
|
|
GRCh37/hg19 6q26(chr6:162434342-162551099)x1
|
|
|
GRCh37/hg19 6q26(chr6:162442895-162966685)x1
|
|
|
GRCh37/hg19 6q26(chr6:162442896-162716261)x1
|
|
|
GRCh37/hg19 6q26(chr6:162462926-162821421)x3
|
|
|
GRCh37/hg19 6q26(chr6:162472025-162504377)x1
|
|
|
GRCh37/hg19 6q26(chr6:162489533-162534642)x1
|
|
|
GRCh37/hg19 6q26(chr6:162496034-162770009)x3
|
|
|
GRCh37/hg19 6q26(chr6:162496914-162507690)x1
|
|
|
GRCh37/hg19 6q26(chr6:162511253-162793290)x1
|
|
|
GRCh37/hg19 6q26(chr6:162513435-162799405)x1
|
|
|
GRCh37/hg19 6q26(chr6:162520918-162729381)x1
|
|
|
GRCh37/hg19 6q26(chr6:162529119-162681967)x1
|
|
|
GRCh37/hg19 6q26(chr6:162542083-162802027)x1
|
|
|
GRCh37/hg19 6q26(chr6:162545871-163112949)x3
|
|
|
GRCh37/hg19 6q26(chr6:162559497-162618048)x1
|
|
|
GRCh37/hg19 6q26(chr6:162565718-162592807)x1
|
|
|
GRCh37/hg19 6q26(chr6:162565718-162621262)x1
|
|
|
GRCh37/hg19 6q26(chr6:162573253-162693547)x1
|
|
|
GRCh37/hg19 6q26(chr6:162578611-162580207)x1
|
|
|
GRCh37/hg19 6q26(chr6:162584161-162587892)x1
|
|
|
GRCh37/hg19 6q26(chr6:162584753-162713427)x1
|
|
|
GRCh37/hg19 6q26(chr6:162587891-162838225)x3
|
|
|
GRCh37/hg19 6q26(chr6:162597463-162627290)x1
|
|
|
GRCh37/hg19 6q26(chr6:162605984-162664335)x1
|
|
|
GRCh37/hg19 6q26(chr6:162609552-162674093)x1
|
|
|
GRCh37/hg19 6q26(chr6:162614287-162660066)x1
|
|
|
GRCh37/hg19 6q26(chr6:162615960-162895692)x1
|
|
|
GRCh37/hg19 6q26(chr6:162622163-162683797)x1
|
|
|
GRCh37/hg19 6q26(chr6:162622163-162864505)x1
|
|
|
GRCh37/hg19 6q26(chr6:162626625-162782074)x1
|
|
|
GRCh37/hg19 6q26(chr6:162632171-163044269)x3
|
|
|
GRCh37/hg19 6q26(chr6:162633118-163017170)x3
|
|
|
GRCh37/hg19 6q26(chr6:162638367-162727465)x3
|
|
|
GRCh37/hg19 6q26(chr6:162639214-162738804)x1
|
|
|
GRCh37/hg19 6q26(chr6:162658972-162754606)x3
|
|
|
GRCh37/hg19 6q26(chr6:162660989-162871297)x1
|
|
|
GRCh37/hg19 6q26(chr6:162666841-162833215)x1
|
|
|
GRCh37/hg19 6q26(chr6:162672820-163007394)x1
|
|
|
GRCh37/hg19 6q26(chr6:162672821-162958851)x1
|
|
|
GRCh37/hg19 6q26(chr6:162672841-162917677)x3
|
|
|
GRCh37/hg19 6q26(chr6:162672841-162928416)x1
|
|
|
GRCh37/hg19 6q26(chr6:162672841-163008515)x1
|
|
|
GRCh37/hg19 6q26(chr6:162673130-163007394)x1
|
|
|
GRCh37/hg19 6q26(chr6:162683557-162683797)x0
|
|
|
GRCh37/hg19 6q26(chr6:162683557-162683797)x3
|
|
|
GRCh37/hg19 6q26(chr6:162683876-163078039)x3
|
|
|
GRCh37/hg19 6q26(chr6:162686408-162912388)x1
|
|
|
GRCh37/hg19 6q26(chr6:162690884-162904764)x3
|
|
|
GRCh37/hg19 6q26(chr6:162702831-163001286)x4
|
|
|
GRCh37/hg19 6q26(chr6:162708066-162947278)x3
|
|
|
GRCh37/hg19 6q26(chr6:162713427-162914986)x3
|
|
|
GRCh37/hg19 6q26(chr6:162716260-162917677)x3
|
|
|
GRCh37/hg19 6q26(chr6:162716501-162912831)x3
|
|
|
GRCh37/hg19 6q26(chr6:162716501-162917677)x3
|
|
|
GRCh37/hg19 6q26(chr6:162716501-162918976)x3
|
|
|
GRCh37/hg19 6q26(chr6:162716501-162919714)x3
|
|
|
GRCh37/hg19 6q26(chr6:162719416-162914986)x3
|
|
|
GRCh37/hg19 6q26(chr6:162722580-162895752)x1
|
|
|
GRCh37/hg19 6q26(chr6:162724247-162914986)x3
|
|
|
GRCh37/hg19 6q26(chr6:162724247-162917942)x3
|
|
|
GRCh37/hg19 6q26(chr6:162729381-162838024)x3
|
|
|
GRCh37/hg19 6q26(chr6:162741184-162927803)x3
|
|
|
GRCh37/hg19 6q26(chr6:162745744-163117879)x1
|
|
|
GRCh37/hg19 6q26(chr6:162750426-162980498)x1
|
|
|
GRCh37/hg19 6q26(chr6:162767682-162839745)x3
|
|
|
GRCh37/hg19 6q26(chr6:162771917-162875706)x1
|
|
|
GRCh37/hg19 6q26(chr6:162779151-163036511)x1
|
|
|
GRCh37/hg19 6q26(chr6:162780995-162899631)x3
|
|
|
GRCh37/hg19 6q26(chr6:162788575-162995604)x3
|
|
|
GRCh37/hg19 6q26(chr6:162802027-162990128)x1
|
|
|
GRCh37/hg19 6q26(chr6:162813663-162928416)x1
|
|
|
GRCh37/hg19 6q26(chr6:162832167-162997423)x3
|
|
|
GRCh37/hg19 6q26(chr6:162838224-163036171)x1
|
|
|
GRCh37/hg19 6q26(chr6:162841880-162982289)x1
|
|
|
GRCh37/hg19 6q26(chr6:162847889-162982051)x1
|
|
|
GRCh37/hg19 6q26(chr6:162854370-162940238)x1
|
|
|
GRCh37/hg19 6q26(chr6:162864093-162889514)x1
|
|
|
GRCh37/hg19 6q26(chr6:162864342-162864505)x1
|
|
|
GRCh37/hg19 6q26(chr6:162912514-162962262)x1
|
|
|
GRCh37/hg19 6q26(chr6:162914986-162987588)x1
|
|
|
GRCh37/hg19 6q26(chr6:162914986-162989826)x1
|
|
|
GRCh37/hg19 6q26(chr6:162936958-162980498)x1
|
|
|
GRCh37/hg19 6q26(chr6:162976142-162996562)x1
|
|
|
GRCh37/hg19 6q26(chr6:162980498-163098794)x1
|
|
|
NC_000006.11:g.(?_161771125)_(162475212_?)dup
|
|
|
NC_000006.11:g.(?_161771131)_(161807929_?)del
|
|
|
NC_000006.11:g.(?_161771131)_(161807929_?)dup
|
|
|
NC_000006.11:g.(?_161771131)_(162864525_?)dup
|
|
|
NC_000006.11:g.(?_161969866)_(161990468_?)del
|
|
|
NC_000006.11:g.(?_161969866)_(161990468_?)dup
|
|
|
NC_000006.11:g.(?_162206794)_(162206950_?)del
|
|
|
NC_000006.11:g.(?_162206794)_(162206950_?)dup
|
|
|
NC_000006.11:g.(?_162394314)_(162394469_?)del
|
|
|
NC_000006.11:g.(?_162394314)_(162683817_?)del
|
|
|
NC_000006.11:g.(?_162394314)_(162683817_?)dup
|
|
|
NC_000006.11:g.(?_162394314)_(162864525_?)del
|
|
|
NC_000006.11:g.(?_162394324)_(162475216_?)dup
|
|
|
NC_000006.11:g.(?_162475113)_(162864519_?)del
|
|
|
NC_000006.11:g.(?_162622143)_(162622304_?)dup
|
|
|
NC_000006.11:g.(?_162622143)_(162864525_?)del
|
|
|
NC_000006.11:g.(?_162622143)_(162864525_?)dup
|
|
|
NC_000006.11:g.(?_162622178)_(162623926_?)del
|
|
|
NC_000006.11:g.(?_162683537)_(162683817_?)dup
|
|
|
NC_000006.11:g.(?_162683537)_(162864525_?)dup
|
|
|
NC_000006.11:g.(?_162683547)_(162683807_?)dup
|
|
|
NC_000006.11:g.(?_162864322)_(162864525_?)dup
|
|
|
NC_000006.11:g.(?_162864322)_(162868359_?)del
|
|
|
NC_000006.11:g.(?_162864332)_(162864519_?)del
|
|
|
NC_000006.11:g.(?_162864332)_(162864519_?)dup
|
|
|
NC_000006.12:g.(?_161386784)_(161973427_?)dup
|
|
|
NC_000006.12:g.(?_161548844)_(161549013_?)dup
|
|
|
NC_000006.12:g.(?_161548844)_(161569426_?)del
|
|
|
NC_000006.12:g.(?_161569335)_(161569436_?)del
|
|
|
NC_000006.12:g.(?_161785752)_(161973437_?)del
|
|
|
NC_000006.12:g.(?_161785762)_(162054184_?)dup
|
|
|
NC_000006.12:g.(?_161973292)_(161973427_?)del
|
|
|
NC_000006.12:g.(?_161973292)_(161973427_?)dup
|
|
|
NC_000006.12:g.(?_161973292)_(162201262_?)dup
|
|
|
NC_000006.12:g.(?_162201121)_(162201262_?)del
|
|
|
NC_000006.12:g.(?_162201121)_(162443487_?)del
|
|
|
NC_000006.12:g.(?_162262505)_(162262785_?)del
|
|
|
NC_000006.12:g.(?_162262505)_(162443493_?)del
|
|
|
NC_000006.12:g.(?_162262515)_(162262775_?)del
|
|
|
NC_000006.12:g.(?_162262515)_(162443487_?)del
|
|
|
NC_000006.12:g.(?_162262515)_(162443487_?)dup
|
|
|
NM_004562.3(PRKN):c.*96GC[7]
|
rs544293869
|
|
NM_004562.3(PRKN):c.1019G>A (p.Gly340Glu)
|
rs1318163167
|
|
NM_004562.3(PRKN):c.1028C>T (p.Pro343Leu)
|
|
|
NM_004562.3(PRKN):c.1041G>A (p.Gln347=)
|
rs766121894
|
|
NM_004562.3(PRKN):c.1046_1047del (p.Lys349fs)
|
|
|
NM_004562.3(PRKN):c.1052C>T (p.Thr351Ile)
|
|
|
NM_004562.3(PRKN):c.1057G>A (p.Glu353Lys)
|
|
|
NM_004562.3(PRKN):c.1060G>A (p.Gly354Arg)
|
rs2115426337
|
|
NM_004562.3(PRKN):c.1071C>G (p.Gly357=)
|
rs878854707
|
|
NM_004562.3(PRKN):c.1083+11C>T
|
|
|
NM_004562.3(PRKN):c.1083+1del
|
rs2115426221
|
|
NM_004562.3(PRKN):c.1129T>C (p.Cys377Arg)
|
|
|
NM_004562.3(PRKN):c.1138G>A (p.Val380Ile)
|
|
|
NM_004562.3(PRKN):c.1138G>C (p.Val380Leu)
|
rs1801582
|
|
NM_004562.3(PRKN):c.1138G>T (p.Val380Leu)
|
rs1801582
|
|
NM_004562.3(PRKN):c.1166A>G (p.Gln389Arg)
|
|
|
NM_004562.3(PRKN):c.1167+162C>G
|
rs9347504
|
|
NM_004562.3(PRKN):c.1167+8A>G
|
rs1583004948
|
|
NM_004562.3(PRKN):c.1168G>T (p.Ala390Ser)
|
rs777708182
|
|
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.1205G>A (p.Arg402His)
|
rs766915327
|
|
NM_004562.3(PRKN):c.1216G>A (p.Ala406Thr)
|
|
|
NM_004562.3(PRKN):c.1251C>T (p.Pro417=)
|
|
|
NM_004562.3(PRKN):c.1252T>C (p.Cys418Arg)
|
rs1554252200
|
|
NM_004562.3(PRKN):c.125G>A (p.Arg42His)
|
rs368134308
|
|
NM_004562.3(PRKN):c.125G>C (p.Arg42Pro)
|
rs368134308
|
|
NM_004562.3(PRKN):c.1269A>G (p.Val423=)
|
|
|
NM_004562.3(PRKN):c.1286-118A>G
|
rs74497568
|
|
NM_004562.3(PRKN):c.1286-3C>G
|
|
|
NM_004562.3(PRKN):c.1286G>A (p.Gly429Glu)
|
|
|
NM_004562.3(PRKN):c.1309C>G (p.Pro437Ala)
|
|
|
NM_004562.3(PRKN):c.1317C>A (p.Pro439=)
|
|
|
NM_004562.3(PRKN):c.1329C>T (p.Leu443=)
|
|
|
NM_004562.3(PRKN):c.1334G>A (p.Trp445Ter)
|
rs961239925
|
|
NM_004562.3(PRKN):c.1338C>G (p.Cys446Trp)
|
|
|
NM_004562.3(PRKN):c.1352del (p.Cys451fs)
|
|
|
NM_004562.3(PRKN):c.1358G>A (p.Trp453Ter)
|
rs137853056
|
|
NM_004562.3(PRKN):c.1359G>A (p.Trp453Ter)
|
|
|
NM_004562.3(PRKN):c.135C>T (p.Phe45=)
|
|
|
NM_004562.3(PRKN):c.136G>T (p.Ala46Ser)
|
rs75860381
|
|
NM_004562.3(PRKN):c.141G>T (p.Gly47=)
|
|
|
NM_004562.3(PRKN):c.141_153del (p.Lys48fs)
|
rs1790151629
|
|
NM_004562.3(PRKN):c.147G>C (p.Glu49Asp)
|
rs199762783
|
|
NM_004562.3(PRKN):c.155del (p.Asn52fs)
|
rs754809877
|
|
NM_004562.3(PRKN):c.171+15G>A
|
rs997074952
|
|
NM_004562.3(PRKN):c.171+20del
|
rs529531705
|
|
NM_004562.3(PRKN):c.171+220GA[4]
|
rs199898133
|
|
NM_004562.3(PRKN):c.172-18T>A
|
rs778021436
|
|
NM_004562.3(PRKN):c.172-18del
|
|
|
NM_004562.3(PRKN):c.172-28_172-18del
|
rs751742289
|
|
NM_004562.3(PRKN):c.172-30_172-18del
|
rs751742289
|
|
NM_004562.3(PRKN):c.172-38dup
|
rs751742289
|
|
NM_004562.3(PRKN):c.174T>C (p.Asn58=)
|
rs536687809
|
|
NM_004562.3(PRKN):c.208G>A (p.Val70Met)
|
rs899299169
|
|
NM_004562.3(PRKN):c.220_221dup (p.Trp74fs)
|
rs746646126
|
|
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.290G>A (p.Arg97Gln)
|
|
|
NM_004562.3(PRKN):c.300G>C (p.Gln100His)
|
rs1256316516
|
|
NM_004562.3(PRKN):c.308C>G (p.Thr103Ser)
|
rs2128100081
|
|
NM_004562.3(PRKN):c.317A>G (p.Asp106Gly)
|
rs1288568218
|
|
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.394CCA[3] (p.Pro133dup)
|
rs747624684
|
|
NM_004562.3(PRKN):c.409C>G (p.Pro137Ala)
|
rs1779933576
|
|
NM_004562.3(PRKN):c.412+6T>C
|
rs1779933448
|
|
NM_004562.3(PRKN):c.534+30930_534+30933del
|
rs553344388
|
|
NM_004562.3(PRKN):c.535-228T>G
|
rs9365364
|
|
NM_004562.3(PRKN):c.536G>A (p.Gly179Asp)
|
rs370479735
|
|
NM_004562.3(PRKN):c.560T>G (p.Leu187Ter)
|
rs1562485799
|
|
NM_004562.3(PRKN):c.562A>G (p.Ile188Val)
|
|
|
NM_004562.3(PRKN):c.571C>T (p.Arg191Trp)
|
|
|
NM_004562.3(PRKN):c.572G>A (p.Arg191Gln)
|
|
|
NM_004562.3(PRKN):c.591A>G (p.Gln197=)
|
|
|
NM_004562.3(PRKN):c.601_602insA (p.Cys201Ter)
|
|
|
NM_004562.3(PRKN):c.632A>T (p.Lys211Ile)
|
rs1583425462
|
|
NM_004562.3(PRKN):c.636T>G (p.Cys212Trp)
|
rs1780901583
|
|
NM_004562.3(PRKN):c.644A>C (p.His215Pro)
|
rs1780900959
|
|
NM_004562.3(PRKN):c.666A>G (p.Thr222=)
|
rs1780899722
|
|
NM_004562.3(PRKN):c.674C>G (p.Ala225Gly)
|
rs1356263061
|
|
NM_004562.3(PRKN):c.686T>C (p.Ile229Thr)
|
rs1562430302
|
|
NM_004562.3(PRKN):c.689C>A (p.Ala230Glu)
|
rs571490973
|
|
NM_004562.3(PRKN):c.689C>T (p.Ala230Val)
|
rs571490973
|
|
NM_004562.3(PRKN):c.68T>A (p.Ile23Asn)
|
rs199859147
|
|
NM_004562.3(PRKN):c.7+32919T>C
|
|
|
NM_004562.3(PRKN):c.734+13_734+15del
|
|
|
NM_004562.3(PRKN):c.734+1G>A
|
rs1562430103
|
|
NM_004562.3(PRKN):c.734+8945T>G
|
|
|
NM_004562.3(PRKN):c.734+9C>T
|
|
|
NM_004562.3(PRKN):c.736A>C (p.Ser246Arg)
|
|
|
NM_004562.3(PRKN):c.73C>T (p.Gln25Ter)
|
rs1440010564
|
|
NM_004562.3(PRKN):c.741C>A (p.Pro247=)
|
rs149749354
|
|
NM_004562.3(PRKN):c.743del (p.Val248fs)
|
rs1790398941
|
|
NM_004562.3(PRKN):c.771C>G (p.His257Gln)
|
rs748797721
|
|
NM_004562.3(PRKN):c.795C>T (p.His265=)
|
rs942973988
|
|
NM_004562.3(PRKN):c.8-14A>C
|
|
|
NM_004562.3(PRKN):c.802T>A (p.Cys268Ser)
|
rs1315134059
|
|
NM_004562.3(PRKN):c.804T>A (p.Cys268Ter)
|
rs377554392
|
|
NM_004562.3(PRKN):c.80A>C (p.Lys27Thr)
|
|
|
NM_004562.3(PRKN):c.818A>G (p.Asn273Ser)
|
|
|
NM_004562.3(PRKN):c.823C>A (p.Arg275=)
|
|
|
NM_004562.3(PRKN):c.844C>T (p.Gln282Ter)
|
|
|
NM_004562.3(PRKN):c.85G>A (p.Val29Met)
|
|
|
NM_004562.3(PRKN):c.871+69692G>T
|
|
|
NM_004562.3(PRKN):c.871+69700_871+69704del
|
rs112078090
|
|
NM_004562.3(PRKN):c.872-181G>A
|
rs35744731
|
|
NM_004562.3(PRKN):c.887C>T (p.Ser296Phe)
|
|
|
NM_004562.3(PRKN):c.907C>T (p.His303Tyr)
|
|
|
NM_004562.3(PRKN):c.933+19G>A
|
|
|
NM_004562.3(PRKN):c.933+20G>A
|
|
|
NM_004562.3(PRKN):c.933+48C>T
|
rs10945756
|
|
NM_004562.3(PRKN):c.934-137CA[8]
|
rs59889520
|
|
NM_004562.3(PRKN):c.934-137CA[9]
|
rs59889520
|
|
NM_004562.3(PRKN):c.934-20_934-16del
|
rs545744886
|
|
NM_004562.3(PRKN):c.937A>C (p.Asn313His)
|
rs1583215669
|
|
NM_004562.3(PRKN):c.937A>G (p.Asn313Asp)
|
rs1583215669
|
|
NM_004562.3(PRKN):c.942G>A (p.Arg314=)
|
|
|
NM_004562.3(PRKN):c.942G>T (p.Arg314=)
|
|
|
NM_004562.3(PRKN):c.971del (p.Val324fs)
|
rs1562519380
|
|
NM_004562.3(PRKN):c.985G>T (p.Gly329Cys)
|
|
|
NM_004562.3(PRKN):c.988G>T (p.Val330Leu)
|
rs749768565
|
|
NM_004562.3(PRKN):c.992del (p.Leu331fs)
|
rs1583215504
|
|
NM_004562.3(PRKN):c.993A>G (p.Leu331=)
|
|
|
Single allele
|
|
|