NM_014908.4(DOLK):c.-49A>G
|
rs116439010
|
0.01852
|
NM_007357.3(COG2):c.1765G>A (p.Val589Ile)
|
rs34109129
|
0.01764
|
NM_020751.3(COG6):c.898C>T (p.His300Tyr)
|
rs34555836
|
0.01351
|
NM_015386.3(COG4):c.845-18T>C
|
rs116746214
|
0.01342
|
NM_006348.5(COG5):c.539-17G>A
|
rs150929025
|
0.01278
|
NM_032382.5(COG8):c.1589C>T (p.Pro530Leu)
|
rs114861924
|
0.00951
|
NM_001128227.3(GNE):c.-10G>A
|
rs73449614
|
0.00894
|
NM_004341.5(CAD):c.5058C>T (p.Asp1686=)
|
rs61757649
|
0.00528
|
NM_020751.3(COG6):c.153+19G>A
|
rs45508796
|
0.00460
|
NM_015599.3(PGM3):c.33A>G (p.Ala11=)
|
rs150763574
|
0.00411
|
NM_005476.7(GNE):c.624T>G (p.Asp208Glu)
|
rs35224402
|
0.00389
|
NM_020751.3(COG6):c.1180A>G (p.Asn394Asp)
|
rs34623774
|
0.00327
|
NM_152464.3(VMA12):c.156A>G (p.Gln52=)
|
rs116914442
|
0.00259
|
NM_006363.6(SEC23B):c.2298C>T (p.Ala766=)
|
rs77945587
|
0.00228
|
NM_006363.6(SEC23B):c.993+10C>G
|
rs201948587
|
0.00173
|
NM_001497.4(B4GALT1):c.259C>T (p.Pro87Ser)
|
rs149181384
|
0.00166
|
NM_001497.4(B4GALT1):c.1050A>G (p.Glu350=)
|
rs147070468
|
0.00134
|
NM_153603.4(COG7):c.567T>C (p.Ser189=)
|
rs115543944
|
0.00101
|
NM_006348.5(COG5):c.298C>T (p.Leu100Phe)
|
rs150351852
|
0.00096
|
NM_032382.5(COG8):c.5C>T (p.Ala2Val)
|
rs151318611
|
0.00089
|
NM_006348.5(COG5):c.1756C>T (p.His586Tyr)
|
rs151129529
|
0.00086
|
NM_018389.5(SLC35C1):c.767G>A (p.Arg256His)
|
rs751906696
|
0.00064
|
NM_015599.3(PGM3):c.1354C>A (p.Leu452Ile)
|
rs201593125
|
0.00061
|
NM_004870.4(MPDU1):c.560C>T (p.Ala187Val)
|
rs139686892
|
0.00044
|
NM_020751.3(COG6):c.*1532T>G
|
rs61954232
|
0.00042
|
NM_015386.3(COG4):c.539A>G (p.Lys180Arg)
|
rs138693104
|
0.00036
|
NM_032382.5(COG8):c.1741C>A (p.Pro581Thr)
|
rs548002506
|
0.00033
|
NM_153603.4(COG7):c.1852G>A (p.Ala618Thr)
|
rs145412851
|
0.00031
|
NM_004341.5(CAD):c.5429G>A (p.Arg1810Gln)
|
rs139332887
|
0.00028
|
NM_006363.6(SEC23B):c.325G>A (p.Glu109Lys)
|
rs121918221
|
0.00024
|
NM_005476.7(GNE):c.1132G>T (p.Asp378Tyr)
|
rs199877522
|
0.00021
|
NM_032382.5(COG8):c.886G>A (p.Glu296Lys)
|
rs149850861
|
0.00019
|
NM_006363.6(SEC23B):c.40C>T (p.Arg14Trp)
|
rs121918222
|
0.00017
|
NM_014908.4(DOLK):c.1257C>G (p.Ile419Met)
|
rs138962748
|
0.00016
|
NM_153603.4(COG7):c.811-14C>G
|
rs545654100
|
0.00016
|
NM_003863.4(DPM2):c.154G>A (p.Ala52Thr)
|
rs147263320
|
0.00015
|
NM_014908.4(DOLK):c.1324G>A (p.Ala442Thr)
|
rs143641133
|
0.00015
|
NM_014908.4(DOLK):c.898C>T (p.Leu300Phe)
|
rs371529625
|
0.00014
|
NM_153603.4(COG7):c.1499A>G (p.Tyr500Cys)
|
rs146603761
|
0.00014
|
NM_006363.6(SEC23B):c.649C>T (p.Arg217Ter)
|
rs121918226
|
0.00013
|
NM_014908.4(DOLK):c.-194G>T
|
rs886063516
|
0.00013
|
NM_005476.7(GNE):c.1892C>T (p.Ala631Val)
|
rs62541771
|
0.00011
|
NM_018389.5(SLC35C1):c.1055C>A (p.Pro352His)
|
rs200843978
|
0.00011
|
NM_004341.5(CAD):c.2525G>A (p.Arg842His)
|
rs199908899
|
0.00009
|
NM_015599.3(PGM3):c.38A>G (p.His13Arg)
|
rs142328170
|
0.00008
|
NM_003859.3(DPM1):c.685A>G (p.Ile229Val)
|
rs559946698
|
0.00007
|
NM_014908.4(DOLK):c.509T>G (p.Val170Gly)
|
rs745609223
|
0.00007
|
NM_005660.3(SLC35A2):c.566G>A (p.Gly189Glu)
|
rs782745496
|
0.00006
|
NM_014908.4(DOLK):c.323A>G (p.Glu108Gly)
|
rs779008975
|
0.00006
|
NM_014908.4(DOLK):c.344C>T (p.Ala115Val)
|
rs146804211
|
0.00006
|
NM_014908.4(DOLK):c.52G>A (p.Gly18Arg)
|
rs777998210
|
0.00006
|
NM_015386.3(COG4):c.1840G>T (p.Glu614Ter)
|
rs1048764460
|
0.00006
|
NM_018389.5(SLC35C1):c.890A>G (p.Asn297Ser)
|
rs756683159
|
0.00006
|
NM_032382.5(COG8):c.741T>G (p.Phe247Leu)
|
rs142530290
|
0.00006
|
NM_006363.6(SEC23B):c.2101C>T (p.Arg701Cys)
|
rs201270568
|
0.00005
|
NM_014908.4(DOLK):c.1166G>A (p.Arg389Gln)
|
rs201984428
|
0.00005
|
NM_014908.4(DOLK):c.1431G>A (p.Met477Ile)
|
rs754150966
|
0.00005
|
NM_014908.4(DOLK):c.1558A>G (p.Thr520Ala)
|
rs374860681
|
0.00005
|
NM_014908.4(DOLK):c.434G>C (p.Gly145Ala)
|
rs377064301
|
0.00005
|
NM_014908.4(DOLK):c.876C>G (p.Phe292Leu)
|
rs147342916
|
0.00005
|
NM_001128227.3(GNE):c.18T>A (p.Tyr6Ter)
|
rs200763627
|
0.00004
|
NM_005476.7(GNE):c.598A>T (p.Ile200Phe)
|
rs369328625
|
0.00004
|
NM_005476.7(GNE):c.647T>C (p.Val216Ala)
|
rs779694939
|
0.00004
|
NM_006363.6(SEC23B):c.1489C>T (p.Arg497Cys)
|
rs727504145
|
0.00004
|
NM_006363.6(SEC23B):c.53G>A (p.Arg18His)
|
rs905074313
|
0.00004
|
NM_006363.6(SEC23B):c.970C>T (p.Arg324Ter)
|
rs121918225
|
0.00004
|
NM_014908.4(DOLK):c.914C>G (p.Ser305Cys)
|
rs766759178
|
0.00004
|
NM_018389.5(SLC35C1):c.29G>A (p.Arg10Lys)
|
rs567155861
|
0.00004
|
NM_005476.7(GNE):c.175C>T (p.Arg59Ter)
|
rs745517517
|
0.00003
|
NM_005476.7(GNE):c.2044G>A (p.Val682Ile)
|
rs768384042
|
0.00003
|
NM_005476.7(GNE):c.527A>T (p.Asp176Val)
|
rs139425890
|
0.00003
|
NM_005476.7(GNE):c.737G>A (p.Arg246Gln)
|
rs121908629
|
0.00003
|
NM_005476.7(GNE):c.916C>T (p.Arg306Ter)
|
rs1057516374
|
0.00003
|
NM_006363.6(SEC23B):c.367C>T (p.Arg123Ter)
|
rs775380378
|
0.00003
|
NM_006363.6(SEC23B):c.689+1G>A
|
rs398124226
|
0.00003
|
NM_006363.6(SEC23B):c.790C>T (p.Arg264Ter)
|
rs121918224
|
0.00003
|
NM_014908.4(DOLK):c.1130G>A (p.Arg377His)
|
rs374317240
|
0.00003
|
NM_014908.4(DOLK):c.1262T>C (p.Leu421Pro)
|
rs145125254
|
0.00003
|
NM_015599.3(PGM3):c.-2-194C>T
|
rs753019951
|
0.00003
|
NM_015599.3(PGM3):c.618A>C (p.Arg206Ser)
|
rs148817553
|
0.00003
|
NM_005476.7(GNE):c.1003C>T (p.Arg335Trp)
|
rs150132839
|
0.00002
|
NM_005476.7(GNE):c.1319A>C (p.Lys440Thr)
|
rs769745306
|
0.00002
|
NM_005476.7(GNE):c.1714G>C (p.Val572Leu)
|
rs121908632
|
0.00002
|
NM_005476.7(GNE):c.1760T>C (p.Ile587Thr)
|
rs748949603
|
0.00002
|
NM_005476.7(GNE):c.2005G>A (p.Gly669Arg)
|
rs776384541
|
0.00002
|
NM_005476.7(GNE):c.32G>A (p.Arg11Gln)
|
rs1401082365
|
0.00002
|
NM_006348.5(COG5):c.2327A>G (p.Gln776Arg)
|
rs149616917
|
0.00002
|
NM_006348.5(COG5):c.59C>T (p.Ala20Val)
|
rs368239973
|
0.00002
|
NM_006348.5(COG5):c.961C>A (p.Gln321Lys)
|
rs370028534
|
0.00002
|
NM_006363.6(SEC23B):c.1603C>T (p.Arg535Ter)
|
rs201921350
|
0.00002
|
NM_014908.4(DOLK):c.-22G>A
|
rs754288997
|
0.00002
|
NM_014908.4(DOLK):c.1006G>A (p.Ala336Thr)
|
rs769241947
|
0.00002
|
NM_014908.4(DOLK):c.1201_1202del (p.Ser401fs)
|
rs919111760
|
0.00002
|
NM_014908.4(DOLK):c.1315G>A (p.Val439Ile)
|
rs372057636
|
0.00002
|
NM_014908.4(DOLK):c.572C>A (p.Pro191His)
|
rs767965852
|
0.00002
|
NM_014908.4(DOLK):c.589G>A (p.Val197Ile)
|
rs373587710
|
0.00002
|
NM_014908.4(DOLK):c.8G>A (p.Arg3Gln)
|
rs373115419
|
0.00002
|
NM_015386.3(COG4):c.811A>G (p.Ile271Val)
|
rs551058375
|
0.00002
|
NM_024592.5(SRD5A3):c.2T>C (p.Met1Thr)
|
rs548088851
|
0.00002
|
NM_153603.4(COG7):c.1445G>A (p.Cys482Tyr)
|
rs376426601
|
0.00002
|
NM_005476.7(GNE):c.1258C>T (p.Arg420Ter)
|
rs747199032
|
0.00001
|
NM_005476.7(GNE):c.1259G>A (p.Arg420Gln)
|
rs780092539
|
0.00001
|
NM_005476.7(GNE):c.1531C>T (p.Pro511Ser)
|
rs966918577
|
0.00001
|
NM_005476.7(GNE):c.2023T>C (p.Tyr675His)
|
rs1191857860
|
0.00001
|
NM_005476.7(GNE):c.2135T>C (p.Met712Thr)
|
rs28937594
|
0.00001
|
NM_005476.7(GNE):c.485G>A (p.Arg162His)
|
rs747640708
|
0.00001
|
NM_005476.7(GNE):c.612G>A (p.Trp204Ter)
|
rs786204476
|
0.00001
|
NM_005476.7(GNE):c.736C>T (p.Arg246Trp)
|
rs773729410
|
0.00001
|
NM_005476.7(GNE):c.893T>C (p.Ile298Thr)
|
rs757091387
|
0.00001
|
NM_006348.5(COG5):c.858G>A (p.Met286Ile)
|
rs1325740175
|
0.00001
|
NM_006363.6(SEC23B):c.1385A>G (p.Tyr462Cys)
|
rs780978419
|
0.00001
|
NM_006363.6(SEC23B):c.1507C>T (p.Arg503Ter)
|
rs1568617456
|
0.00001
|
NM_006363.6(SEC23B):c.2150del (p.Ala717fs)
|
rs1334741748
|
0.00001
|
NM_014908.4(DOLK):c.1178C>T (p.Ser393Phe)
|
rs982668501
|
0.00001
|
NM_014908.4(DOLK):c.1594C>T (p.Leu532Phe)
|
rs140350881
|
0.00001
|
NM_014908.4(DOLK):c.292C>T (p.Arg98Trp)
|
rs747555089
|
0.00001
|
NM_014908.4(DOLK):c.581C>T (p.Ala194Val)
|
rs763132281
|
0.00001
|
NM_014908.4(DOLK):c.710T>C (p.Met237Thr)
|
rs201363976
|
0.00001
|
NM_014908.4(DOLK):c.719T>C (p.Phe240Ser)
|
rs765475110
|
0.00001
|
NM_014908.4(DOLK):c.725G>A (p.Ser242Asn)
|
rs876657786
|
0.00001
|
NM_014908.4(DOLK):c.908A>G (p.Tyr303Cys)
|
rs780974264
|
0.00001
|
NM_018389.5(SLC35C1):c.116T>C (p.Leu39Ser)
|
rs771587118
|
0.00001
|
NM_018389.5(SLC35C1):c.163A>G (p.Met55Val)
|
rs767671094
|
0.00001
|
NM_018714.3(COG1):c.1428G>A (p.Trp476Ter)
|
rs1227032564
|
0.00001
|
NM_020751.3(COG6):c.1535T>G (p.Leu512Ter)
|
rs1292534396
|
0.00001
|
NM_001128227.3(GNE):c.51+1G>A
|
|
|
NM_003859.3(DPM1):c.182T>C (p.Ile61Thr)
|
|
|
NM_003863.4(DPM2):c.139C>T (p.Arg47Ter)
|
rs549450795
|
|
NM_004341.5(CAD):c.2834_2835del (p.Ile945fs)
|
|
|
NM_004341.5(CAD):c.4810C>T (p.Gln1604Ter)
|
rs1676113645
|
|
NM_004341.5(CAD):c.5063-1G>A
|
|
|
NM_004341.5(CAD):c.5063-2A>G
|
|
|
NM_004341.5(CAD):c.5594-1G>A
|
|
|
NM_004341.5(CAD):c.5737dup (p.Gln1913fs)
|
rs1159635090
|
|
NM_004341.5(CAD):c.656T>A (p.Leu219Ter)
|
|
|
NM_004870.4(MPDU1):c.657CTC[1] (p.Ser221del)
|
|
|
NM_005476.7(GNE):c.1237G>T (p.Asp413Tyr)
|
|
|
NM_005476.7(GNE):c.1306C>T (p.Gln436Ter)
|
rs786204558
|
|
NM_005476.7(GNE):c.1556A>G (p.Asn519Ser)
|
rs1554658910
|
|
NM_005476.7(GNE):c.1571C>T (p.Ala524Val)
|
rs764698870
|
|
NM_005476.7(GNE):c.1593_1597del (p.Lys532fs)
|
|
|
NM_005476.7(GNE):c.1595dup (p.Leu534fs)
|
|
|
NM_005476.7(GNE):c.1686del (p.Cys563fs)
|
rs886044449
|
|
NM_005476.7(GNE):c.1792_1793dup (p.Glu599fs)
|
rs1436850036
|
|
NM_005476.7(GNE):c.1861del (p.Ala621fs)
|
|
|
NM_005476.7(GNE):c.2086G>A (p.Val696Met)
|
rs121908627
|
|
NM_005476.7(GNE):c.386G>A (p.Arg129Gln)
|
rs748704459
|
|
NM_005476.7(GNE):c.425T>C (p.Ile142Thr)
|
rs1829868500
|
|
NM_005476.7(GNE):c.484C>T (p.Arg162Cys)
|
rs769215411
|
|
NM_005476.7(GNE):c.555dup (p.Tyr186fs)
|
|
|
NM_005476.7(GNE):c.557A>G (p.Tyr186Cys)
|
|
|
NM_005476.7(GNE):c.856C>T (p.Gln286Ter)
|
rs1057516746
|
|
NM_005476.7(GNE):c.917G>A (p.Arg306Gln)
|
rs1455785164
|
|
NM_005660.3(SLC35A2):c.523C>T (p.Leu175Phe)
|
rs1283637638
|
|
NM_006348.5(COG5):c.1078C>G (p.Leu360Val)
|
rs762031095
|
|
NM_006348.5(COG5):c.1750-3dup
|
rs746706902
|
|
NM_006348.5(COG5):c.2078C>T (p.Ala693Val)
|
rs751843896
|
|
NM_006348.5(COG5):c.2089C>G (p.Gln697Glu)
|
rs1031677638
|
|
NM_006348.5(COG5):c.2T>G (p.Met1Arg)
|
rs375702393
|
|
NM_006348.5(COG5):c.538+20del
|
rs201626701
|
|
NM_006348.5(COG5):c.538+6dup
|
rs201626701
|
|
NM_006363.6(SEC23B):c.1511+2_1511+5del
|
|
|
NM_006363.6(SEC23B):c.1616_1617del (p.Glu539fs)
|
|
|
NM_006363.6(SEC23B):c.2074_2077dup (p.Asp693delinsGlyTer)
|
|
|
NM_006363.6(SEC23B):c.221G>A (p.Cys74Tyr)
|
|
|
NM_006363.6(SEC23B):c.454C>T (p.Gln152Ter)
|
|
|
NM_006363.6(SEC23B):c.664C>T (p.Gln222Ter)
|
|
|
NM_006363.6(SEC23B):c.762G>A (p.Trp254Ter)
|
|
|
NM_014908.4(DOLK):c.1110dup (p.Ile371fs)
|
|
|
NM_014908.4(DOLK):c.1234C>A (p.Leu412Ile)
|
|
|
NM_014908.4(DOLK):c.1332_1333dup (p.Leu445fs)
|
rs1287763056
|
|
NM_014908.4(DOLK):c.1424G>T (p.Gly475Val)
|
rs1588261710
|
|
NM_014908.4(DOLK):c.325C>G (p.Arg109Gly)
|
rs755188614
|
|
NM_014908.4(DOLK):c.702G>C (p.Met234Ile)
|
rs746656818
|
|
NM_015386.3(COG4):c.1290C>A (p.Tyr430Ter)
|
|
|
NM_015386.3(COG4):c.35C>T (p.Pro12Leu)
|
rs146758430
|
|
NM_015386.3(COG4):c.494A>G (p.Tyr165Cys)
|
|
|
NM_015599.3(PGM3):c.1153_1157del (p.Met385fs)
|
|
|
NM_015599.3(PGM3):c.1349_1352dup (p.Leu452fs)
|
|
|
NM_015599.3(PGM3):c.1415_1442dup (p.Asn482fs)
|
|
|
NM_015599.3(PGM3):c.310A>T (p.Arg104Ter)
|
|
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NM_015599.3(PGM3):c.378dup (p.Arg127Ter)
|
rs2128506370
|
|
NM_015599.3(PGM3):c.457+2T>G
|
|
|
NM_015599.3(PGM3):c.64C>T (p.Gln22Ter)
|
|
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NM_015599.3(PGM3):c.787+1G>A
|
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NM_015599.3(PGM3):c.907_919del (p.Thr303fs)
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|
NM_020751.3(COG6):c.*315del
|
rs142947196
|
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NM_024592.5(SRD5A3):c.911T>C (p.Val304Ala)
|
rs1720062980
|
|
NM_024592.5(SRD5A3):c.951_955del (p.Phe318fs)
|
rs565935886
|
|
NM_032382.5(COG8):c.1202C>T (p.Ser401Leu)
|
|
|
NM_032382.5(COG8):c.664C>T (p.Leu222Phe)
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NM_153603.4(COG7):c.1090G>A (p.Asp364Asn)
|
rs764545607
|
|
NM_153603.4(COG7):c.366C>T (p.Ala122=)
|
rs74012178
|
|
NM_153603.4(COG7):c.51C>G (p.Ile17Met)
|
|
|
NM_153603.4(COG7):c.668A>T (p.Tyr223Phe)
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