NM_004562.3(PRKN):c.136G>A (p.Ala46Thr)
|
rs75860381
|
0.00621
|
NM_004562.3(PRKN):c.101A>G (p.Gln34Arg)
|
rs148851677
|
0.00303
|
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.919C>T (p.Leu307=)
|
rs138920699
|
0.00076
|
NM_004562.3(PRKN):c.766C>T (p.Arg256Cys)
|
rs150562946
|
0.00046
|
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.719C>T (p.Thr240Met)
|
rs137853054
|
0.00016
|
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.701G>A (p.Arg234Gln)
|
rs144032774
|
0.00010
|
NM_004562.3(PRKN):c.98G>A (p.Arg33Gln)
|
rs147757966
|
0.00006
|
NM_004562.3(PRKN):c.270C>T (p.Asn90=)
|
rs767425151
|
0.00005
|
NM_004562.3(PRKN):c.848T>C (p.Leu283Pro)
|
rs56154308
|
0.00003
|
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.1158A>G (p.Thr386=)
|
rs756949723
|
0.00001
|
NM_004562.3(PRKN):c.765C>T (p.Ser255=)
|
rs778612938
|
0.00001
|
GRCh37/hg19 6q26(chr6:162394334-162622284)x1
|
|
|
GRCh37/hg19 6q26(chr6:162622163-162683797)x1
|
|
|
GRCh37/hg19 6q26(chr6:162622163-162864505)x1
|
|
|
GRCh37/hg19 6q26(chr6:162683557-162683797)x0
|
|
|
GRCh37/hg19 6q26(chr6:162683557-162683797)x3
|
|
|
GRCh37/hg19 6q26(chr6:162864342-162864505)x1
|
|
|
NM_004562.3(PRKN):c.1317C>A (p.Pro439=)
|
|
|
NM_004562.3(PRKN):c.1358G>A (p.Trp453Ter)
|
rs137853056
|
|
NM_004562.3(PRKN):c.141_153del (p.Lys48fs)
|
rs1790151629
|
|
NM_004562.3(PRKN):c.245C>A (p.Ala82Glu)
|
rs55774500
|
|
NM_004562.3(PRKN):c.279A>G (p.Gly93=)
|
|
|
NM_004562.3(PRKN):c.394CCA[3] (p.Pro133dup)
|
rs747624684
|
|
NM_004562.3(PRKN):c.534+30930_534+30933del
|
rs553344388
|
|
NM_004562.3(PRKN):c.689C>A (p.Ala230Glu)
|
rs571490973
|
|
NM_004562.3(PRKN):c.7+32919T>C
|
|
|
NM_004562.3(PRKN):c.734+8945T>G
|
|
|
NM_004562.3(PRKN):c.73C>T (p.Gln25Ter)
|
rs1440010564
|
|