NM_004562.3(PRKN):c.1310C>T (p.Pro437Leu)
|
rs149953814
|
0.00223
|
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.930G>C (p.Glu310Asp)
|
rs72480423
|
0.00018
|
NM_004562.3(PRKN):c.719C>T (p.Thr240Met)
|
rs137853054
|
0.00016
|
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.727G>A (p.Asp243Asn)
|
rs146173584
|
0.00009
|
NM_004562.3(PRKN):c.1112C>T (p.Ala371Val)
|
rs375036403
|
0.00006
|
NM_004562.3(PRKN):c.1364G>A (p.Arg455His)
|
rs748955949
|
0.00004
|
NM_004562.3(PRKN):c.272C>T (p.Ala91Val)
|
rs528661586
|
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.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.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.172-9C>G
|
rs758769558
|
0.00002
|
NM_004562.3(PRKN):c.775A>G (p.Ile259Val)
|
rs750325162
|
0.00002
|
NM_004562.3(PRKN):c.1117C>A (p.His373Asn)
|
rs1240306663
|
0.00001
|
NM_004562.3(PRKN):c.117C>G (p.Asp39Glu)
|
rs756595206
|
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.1330G>C (p.Glu444Gln)
|
rs772592654
|
0.00001
|
NM_004562.3(PRKN):c.1366G>A (p.Val456Ile)
|
rs755627153
|
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.310C>T (p.Arg104Trp)
|
rs769099303
|
0.00001
|
NM_004562.3(PRKN):c.311G>A (p.Arg104Gln)
|
rs748892763
|
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.700C>T (p.Arg234Trp)
|
rs373822092
|
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.904C>T (p.His302Tyr)
|
rs755749488
|
0.00001
|
GRCh37/hg19 6q26(chr6:161815583-161860424)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(chr6:162192855-162287747)x1
|
|
|
GRCh37/hg19 6q26(chr6:162203626-162305145)x1
|
|
|
GRCh37/hg19 6q26(chr6:162212864-162530432)x1
|
|
|
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(chr6:162422086-162651797)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(chr6:162496034-162770009)x3
|
|
|
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(chr6:162573253-162693547)x1
|
|
|
GRCh37/hg19 6q26(chr6:162587891-162838225)x3
|
|
|
GRCh37/hg19 6q26(chr6:162605984-162664335)x1
|
|
|
GRCh37/hg19 6q26(chr6:162615960-162895692)x1
|
|
|
GRCh37/hg19 6q26(chr6:162638367-162727465)x3
|
|
|
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(chr6:162686408-162912388)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(chr6:162716260-162917677)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(chr6:162722580-162895752)x1
|
|
|
GRCh37/hg19 6q26(chr6:162745744-163117879)x1
|
|
|
GRCh37/hg19 6q26(chr6:162771917-162875706)x1
|
|
|
GRCh37/hg19 6q26(chr6:162788575-162995604)x3
|
|
|
GRCh37/hg19 6q26(chr6:162802027-162990128)x1
|
|
|
GRCh37/hg19 6q26(chr6:162813663-162928416)x1
|
|
|
GRCh37/hg19 6q26(chr6:162838224-163036171)x1
|
|
|
GRCh37/hg19 6q26(chr6:162841880-162982289)x1
|
|
|
GRCh37/hg19 6q26(chr6:162854370-162940238)x1
|
|
|
GRCh37/hg19 6q26(chr6:162864093-162889514)x1
|
|
|
NC_000006.11:g.(?_161771125)_(162475212_?)dup
|
|
|
NC_000006.11:g.(?_161771131)_(161807929_?)dup
|
|
|
NC_000006.11:g.(?_161771131)_(162864525_?)dup
|
|
|
NC_000006.11:g.(?_162683537)_(162864525_?)dup
|
|
|
NC_000006.12:g.(?_161386784)_(161973427_?)dup
|
|
|
NC_000006.12:g.(?_161548844)_(161549013_?)dup
|
|
|
NC_000006.12:g.(?_162262515)_(162443487_?)dup
|
|
|
NM_004562.3(PRKN):c.1019G>A (p.Gly340Glu)
|
rs1318163167
|
|
NM_004562.3(PRKN):c.1028C>T (p.Pro343Leu)
|
|
|
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.1129T>C (p.Cys377Arg)
|
|
|
NM_004562.3(PRKN):c.1166A>G (p.Gln389Arg)
|
|
|
NM_004562.3(PRKN):c.1168G>T (p.Ala390Ser)
|
rs777708182
|
|
NM_004562.3(PRKN):c.1205G>A (p.Arg402His)
|
rs766915327
|
|
NM_004562.3(PRKN):c.1216G>A (p.Ala406Thr)
|
|
|
NM_004562.3(PRKN):c.1286G>A (p.Gly429Glu)
|
|
|
NM_004562.3(PRKN):c.1309C>G (p.Pro437Ala)
|
|
|
NM_004562.3(PRKN):c.1338C>G (p.Cys446Trp)
|
|
|
NM_004562.3(PRKN):c.136G>T (p.Ala46Ser)
|
rs75860381
|
|
NM_004562.3(PRKN):c.141G>T (p.Gly47=)
|
|
|
NM_004562.3(PRKN):c.147G>C (p.Glu49Asp)
|
rs199762783
|
|
NM_004562.3(PRKN):c.208G>A (p.Val70Met)
|
rs899299169
|
|
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.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.536G>A (p.Gly179Asp)
|
rs370479735
|
|
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.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.736A>C (p.Ser246Arg)
|
|
|
NM_004562.3(PRKN):c.771C>G (p.His257Gln)
|
rs748797721
|
|
NM_004562.3(PRKN):c.802T>A (p.Cys268Ser)
|
rs1315134059
|
|
NM_004562.3(PRKN):c.80A>C (p.Lys27Thr)
|
|
|
NM_004562.3(PRKN):c.818A>G (p.Asn273Ser)
|
|
|
NM_004562.3(PRKN):c.85G>A (p.Val29Met)
|
|
|
NM_004562.3(PRKN):c.887C>T (p.Ser296Phe)
|
|
|
NM_004562.3(PRKN):c.907C>T (p.His303Tyr)
|
|
|
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.985G>T (p.Gly329Cys)
|
|
|
NM_004562.3(PRKN):c.988G>T (p.Val330Leu)
|
rs749768565
|
|
Single allele
|
|
|