NM_032409.3(PINK1):c.*672T>C
|
rs2078073
|
0.27437
|
NM_032409.3(PINK1):c.*564T>G
|
rs1043502
|
0.27404
|
NM_032409.3(PINK1):c.1562A>C (p.Asn521Thr)
|
rs1043424
|
0.27338
|
NM_032409.3(PINK1):c.*196T>C
|
rs1043443
|
0.27336
|
NM_000190.4(HMBS):c.606G>T (p.Val202=)
|
rs1131488
|
0.23280
|
NM_002633.3(PGM1):c.661C>T (p.Arg221Cys)
|
rs1126728
|
0.22903
|
NM_018475.5(TMEM165):c.*482A>T
|
rs6802
|
0.22414
|
NM_013339.4(ALG6):c.*1156dup
|
rs397821582
|
0.21984
|
NM_006765.4(TUSC3):c.*1943_*1944insTT
|
rs55894244
|
0.21201
|
NM_004870.3(MPDU1):c.-73A>G
|
rs2075230
|
0.20730
|
NM_002633.3(PGM1):c.*198C>T
|
rs10909
|
0.18377
|
NM_002633.3(PGM1):c.*93A>C
|
rs4643
|
0.17191
|
NM_002633.3(PGM1):c.*22C>T
|
rs8294
|
0.17190
|
NM_002633.3(PGM1):c.262A>G (p.Ile88Val)
|
rs855314
|
0.16859
|
NM_032409.3(PINK1):c.*415C>G
|
rs8064
|
0.14517
|
NM_020320.5(RARS2):c.1704A>G (p.Lys568=)
|
rs8802
|
0.12189
|
NM_006416.5(SLC35A1):c.887-14T>C
|
rs56136150
|
0.10768
|
NM_024105.4(ALG12):c.*450_*451del
|
rs16445
|
0.07645
|
NM_002633.3(PGM1):c.1501G>A (p.Val501Ile)
|
rs6676290
|
0.04986
|
NM_002633.3(PGM1):c.1145-7C>G
|
rs72922609
|
0.04055
|
NM_000303.2(PMM2):c.*1516C>G
|
rs74008088
|
0.03504
|
NM_001497.4(B4GALT1):c.*1675dup
|
rs113144091
|
0.03000
|
NM_002633.3(PGM1):c.1280+7C>T
|
rs72922610
|
0.02818
|
NM_002633.3(PGM1):c.*37G>A
|
rs61765314
|
0.02669
|
NM_002633.3(PGM1):c.399T>C (p.Ile133=)
|
rs1126727
|
0.02624
|
NM_005216.5(DDOST):c.831C>T (p.Ala277=)
|
rs6692016
|
0.02273
|
NM_032409.3(PINK1):c.*490A>C
|
rs16824318
|
0.02268
|
NM_015354.3(NUP188):c.19G>A (p.Gly7Arg)
|
rs113241875
|
0.02256
|
NM_002408.4(MGAT2):c.261G>T (p.Leu87=)
|
rs2228449
|
0.01763
|
NM_018475.5(TMEM165):c.*494T>C
|
rs28712413
|
0.01637
|
NM_002633.3(PGM1):c.*130C>T
|
rs2749098
|
0.01573
|
NM_006765.4(TUSC3):c.-87C>T
|
rs113041846
|
0.01573
|
NM_002633.3(PGM1):c.1500C>T (p.Ile500=)
|
rs61737416
|
0.01523
|
NM_002633.3(PGM1):c.1599+9C>T
|
rs115864084
|
0.01520
|
NM_006765.4(TUSC3):c.-91G>A
|
rs7012310
|
0.01126
|
NM_006765.4(TUSC3):c.-88T>G
|
rs78789580
|
0.00871
|
NM_006765.4(TUSC3):c.*2138T>C
|
rs2604367
|
0.00841
|
NM_006765.4(TUSC3):c.-108G>A
|
rs563436944
|
0.00836
|
NM_006765.4(TUSC3):c.*2100C>A
|
rs77246198
|
0.00634
|
NM_006765.4(TUSC3):c.*83A>C
|
rs113086911
|
0.00629
|
NM_006765.4(TUSC3):c.193A>G (p.Ile65Val)
|
rs11545035
|
0.00605
|
NM_006765.4(TUSC3):c.*2450A>G
|
rs188010701
|
0.00593
|
NM_006765.3(TUSC3):c.-273G>A
|
rs3810773
|
0.00279
|
NM_020751.3(COG6):c.1693-7_1693-6del
|
rs1491507046
|
0.00273
|
NM_006765.4(TUSC3):c.*2304C>G
|
rs533878815
|
0.00004
|
NM_001497.4(B4GALT1):c.*1890del
|
rs3841451
|
|
NM_002408.4(MGAT2):c.-351G>T
|
rs116136260
|
|
NM_003859.3(DPM1):c.679-7_679-6insT
|
rs11480415
|
|
NM_003859.3(DPM1):c.679-7_679-6insTT
|
rs11480415
|
|
NM_005216.5(DDOST):c.*375_*376dup
|
rs200971370
|
|
NM_006348.5(COG5):c.*544del
|
rs61088959
|
|
NM_006416.5(SLC35A1):c.*294dup
|
rs11432150
|
|
NM_006765.4(TUSC3):c.*2368dup
|
rs397694181
|
|
NM_012257.4(HBP1):c.*809_*812dup
|
rs10699573
|
|
NM_013339.4(ALG6):c.*790TATAT[1]
|
rs527457175
|
|
NM_020751.3(COG6):c.*315del
|
rs142947196
|
|
NM_020751.3(COG6):c.1693-4del
|
rs66629036
|
|
NM_020751.3(COG6):c.624-3dup
|
rs397756552
|
|
NM_024105.4(ALG12):c.-159_-158del
|
rs113787911
|
|
NM_024592.5(SRD5A3):c.*311ACCGAAAA[1]
|
rs375142797
|
|
NM_024740.2(ALG9):c.*2496_*2500del
|
rs3833761
|
|
NM_032409.3(PINK1):c.*573_*576dup
|
rs143763511
|
|
NM_032409.3(PINK1):c.*673_*675dup
|
rs3077908
|
|
NM_032409.3(PINK1):c.*725GA[4]
|
rs34361349
|
|