NM_018714.3(COG1):c.1282-48T>C
|
rs1026130
|
0.98047
|
NM_015386.3(COG4):c.485C>T (p.Thr162Ile)
|
rs3931036
|
0.95397
|
NM_005765.3(ATP6AP2):c.534+45G>C
|
rs3112299
|
0.91713
|
NM_018714.3(COG1):c.2383-17T>C
|
rs3829571
|
0.91491
|
NM_018389.5(SLC35C1):c.*1158C>T
|
rs4756027
|
0.84749
|
NM_018389.5(SLC35C1):c.*1312T>C
|
rs7943306
|
0.79007
|
NM_018475.5(TMEM165):c.18A>G (p.Pro6=)
|
rs1128141
|
0.71708
|
NM_020751.3(COG6):c.297+47C>T
|
rs7330016
|
0.65748
|
NM_006348.5(COG5):c.895T>C (p.Phe299Leu)
|
rs2269970
|
0.64619
|
NM_018389.5(SLC35C1):c.*49G>A
|
rs1139266
|
0.63052
|
NM_015386.3(COG4):c.1314+86A>C
|
rs2303791
|
0.62527
|
NM_006416.5(SLC35A1):c.-18G>C
|
rs9450704
|
0.59575
|
NM_018714.3(COG1):c.1175A>G (p.Asn392Ser)
|
rs1026128
|
0.50958
|
NM_018714.2(COG1):c.-27A>G
|
rs3764359
|
0.50887
|
NM_015386.3(COG4):c.2142G>A (p.Ser714=)
|
rs11054
|
0.47870
|
NM_015386.3(COG4):c.1482-25T>C
|
rs2303793
|
0.46944
|
NM_018714.3(COG1):c.543A>G (p.Ala181=)
|
rs11544800
|
0.43890
|
NM_018714.3(COG1):c.333G>A (p.Gln111=)
|
rs1052706
|
0.43844
|
NM_020751.3(COG6):c.94T>A (p.Cys32Ser)
|
rs3812883
|
0.43470
|
NM_006348.5(COG5):c.234+16T>A
|
rs2520272
|
0.41271
|
NM_020751.3(COG6):c.*80C>T
|
rs4245396
|
0.40944
|
NM_002408.4(MGAT2):c.-234T>C
|
rs7519
|
0.39580
|
NM_015386.3(COG4):c.646C>T (p.Leu216=)
|
rs3762171
|
0.38086
|
NM_006302.3(MOGS):c.877C>T (p.Pro293Ser)
|
rs2268416
|
0.35953
|
NM_020751.3(COG6):c.*1052A>G
|
rs9943
|
0.35836
|
NM_001497.4(B4GALT1):c.648+102C>T
|
rs913214
|
0.35792
|
NM_006302.3(MOGS):c.715G>A (p.Asp239Asn)
|
rs1063588
|
0.33895
|
NM_018475.5(TMEM165):c.899-15T>C
|
rs7660517
|
0.33010
|
NM_153603.4(COG7):c.*187A>G
|
rs250588
|
0.31336
|
NM_032382.5(COG8):c.42A>G (p.Thr14=)
|
rs11542583
|
0.30947
|
NM_001135146.2(SLC39A8):c.552+48C>T
|
rs1462947
|
0.30373
|
NM_018475.5(TMEM165):c.*2_*3del
|
rs35154686
|
0.29449
|
NM_020751.3(COG6):c.1009+9A>G
|
rs4129745
|
0.28442
|
NM_018389.5(SLC35C1):c.-3A>G
|
rs3808976
|
0.27016
|
NM_006348.5(COG5):c.347+4C>A
|
rs2066735
|
0.26803
|
NM_007357.3(COG2):c.2217A>G (p.Ter739=)
|
rs1051038
|
0.24224
|
NM_153603.4(COG7):c.*47C>T
|
rs250587
|
0.21141
|
NM_020751.3(COG6):c.1074+18T>C
|
rs9548882
|
0.20795
|
NM_018389.5(SLC35C1):c.*1315C>T
|
rs55758172
|
0.19265
|
NM_018389.5(SLC35C1):c.*1074C>T
|
rs4756026
|
0.19261
|
NM_018389.5(SLC35C1):c.-303G>C
|
rs12289963
|
0.17005
|
NM_006348.5(COG5):c.949-18A>G
|
rs12536603
|
0.15851
|
NM_006348.5(COG5):c.*828C>G
|
rs7981
|
0.15427
|
NM_006348.5(COG5):c.1689T>G (p.Val563=)
|
rs17349904
|
0.15364
|
NM_018714.3(COG1):c.1473C>T (p.Ser491=)
|
rs1551036
|
0.13412
|
NM_015386.3(COG4):c.171+18T>C
|
rs16970260
|
0.13009
|
NM_018389.5(SLC35C1):c.718A>G (p.Ile240Val)
|
rs7130656
|
0.12992
|
NM_015386.3(COG4):c.739-9C>G
|
rs16970243
|
0.11989
|
NM_018389.5(SLC35C1):c.-632G>A
|
rs77254044
|
0.11737
|
NM_006416.5(SLC35A1):c.887-14T>C
|
rs56136150
|
0.10768
|
NM_153603.4(COG7):c.2103T>C (p.Pro701=)
|
rs8057712
|
0.09257
|
NM_018389.5(SLC35C1):c.*1580C>T
|
rs10838518
|
0.07780
|
NM_153603.4(COG7):c.1814C>T (p.Thr605Met)
|
rs16940094
|
0.07374
|
NM_007357.3(COG2):c.912T>A (p.Asn304Lys)
|
rs6681346
|
0.06884
|
NM_018714.3(COG1):c.1357G>C (p.Glu453Gln)
|
rs62621249
|
0.06636
|
NM_006348.5(COG5):c.1000A>G (p.Ile334Val)
|
rs34087251
|
0.06004
|
NM_001497.4(B4GALT1):c.597C>T (p.His199=)
|
rs1065765
|
0.05834
|
NM_032382.5(COG8):c.*330G>T
|
rs1055399
|
0.05747
|
NM_032382.5(COG8):c.*332A>T
|
rs1055401
|
0.05746
|
NM_007357.3(COG2):c.1036A>G (p.Ile346Val)
|
rs11558606
|
0.05635
|
NM_018389.5(SLC35C1):c.*414G>A
|
rs1139267
|
0.05406
|
NM_020751.3(COG6):c.1340T>C (p.Met447Thr)
|
rs41286961
|
0.05379
|
NM_015386.3(COG4):c.544+19T>A
|
rs74324138
|
0.05339
|
NM_006302.3(MOGS):c.184G>A (p.Val62Met)
|
rs79181168
|
0.04027
|
NM_018389.5(SLC35C1):c.*955C>A
|
rs76564550
|
0.03946
|
NM_015386.3(COG4):c.1195+8C>T
|
rs80034177
|
0.03426
|
NM_006348.5(COG5):c.1827C>T (p.Ile609=)
|
rs35581984
|
0.03303
|
NM_007357.3(COG2):c.264T>G (p.Leu88=)
|
rs16852160
|
0.03286
|
NM_020751.3(COG6):c.1693-6A>T
|
rs78336861
|
0.03077
|
NM_018475.5(TMEM165):c.-147T>C
|
rs116687212
|
0.02961
|
NM_015386.3(COG4):c.1710+17C>G
|
rs74026056
|
0.02905
|
NM_002408.4(MGAT2):c.*366C>G
|
rs1011373
|
0.02852
|
NG_028095.1(COG5):g.5589G>A
|
rs73419464
|
0.02557
|
NM_006302.3(MOGS):c.2032C>T (p.Arg678Trp)
|
rs13405869
|
0.02517
|
NM_006302.3(MOGS):c.2353G>A (p.Gly785Ser)
|
rs35533773
|
0.01925
|
NM_007357.3(COG2):c.1765G>A (p.Val589Ile)
|
rs34109129
|
0.01764
|
NM_002408.4(MGAT2):c.261G>T (p.Leu87=)
|
rs2228449
|
0.01763
|
NM_006348.5(COG5):c.1257A>G (p.Leu419=)
|
rs74443110
|
0.01554
|
NM_005660.3(SLC35A2):c.43C>A (p.Pro15Thr)
|
rs55719932
|
0.01547
|
NM_181581.3(DUS4L):c.-111+167G>C
|
rs115371930
|
0.01547
|
NM_181581.3(DUS4L):c.-325C>T
|
rs55840928
|
0.01489
|
NM_018389.5(SLC35C1):c.-173C>T
|
rs78455013
|
0.01481
|
NM_018475.5(TMEM165):c.*505T>A
|
rs73151843
|
0.01454
|
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_006302.3(MOGS):c.2017G>A (p.Val673Ile)
|
rs114933392
|
0.01265
|
NM_006416.5(SLC35A1):c.7G>T (p.Ala3Ser)
|
rs149903512
|
0.01248
|
NM_001164277.2(SLC37A4):c.149-14A>G
|
rs79849261
|
0.01232
|
NM_032382.5(COG8):c.1591C>T (p.Pro531Ser)
|
rs76253513
|
0.01202
|
NM_018714.3(COG1):c.58G>C (p.Ala20Pro)
|
rs142719529
|
0.01075
|
NM_006302.3(MOGS):c.1245C>G (p.Ile415Met)
|
rs34838944
|
0.01053
|
NM_181581.3(DUS4L):c.-111+78G>C
|
rs80122402
|
0.01000
|
NM_032382.5(COG8):c.1589C>T (p.Pro530Leu)
|
rs114861924
|
0.00951
|
NM_006348.5(COG5):c.876T>G (p.Thr292=)
|
rs74522314
|
0.00898
|
NM_153603.4(COG7):c.*9C>A
|
rs139833665
|
0.00885
|
NM_007357.3(COG2):c.567C>T (p.Gly189=)
|
rs77326385
|
0.00855
|
NM_018389.5(SLC35C1):c.*1208G>A
|
rs115509471
|
0.00851
|
NM_015386.3(COG4):c.2163G>A (p.Thr721=)
|
rs150547677
|
0.00801
|
NM_020751.3(COG6):c.1963C>A (p.Leu655Ile)
|
rs114044193
|
0.00750
|
NM_007357.3(COG2):c.708G>A (p.Thr236=)
|
rs34010781
|
0.00660
|
NM_018714.3(COG1):c.1049C>T (p.Thr350Met)
|
rs117344829
|
0.00650
|
NM_006302.3(MOGS):c.1838G>A (p.Arg613Gln)
|
rs142032474
|
0.00643
|
NM_181581.3(DUS4L):c.-110-94C>A
|
rs145603444
|
0.00625
|
NM_006348.5(COG5):c.*678T>C
|
rs149142658
|
0.00618
|
NM_006416.5(SLC35A1):c.19A>C (p.Asn7His)
|
rs114156788
|
0.00612
|
NM_002408.4(MGAT2):c.-443C>T
|
rs3007037
|
0.00589
|
NM_006348.5(COG5):c.*293T>C
|
rs6958494
|
0.00577
|
NM_018714.3(COG1):c.529A>G (p.Ile177Val)
|
rs150001655
|
0.00545
|
NM_015386.3(COG4):c.1759C>A (p.Gln587Lys)
|
rs113455884
|
0.00524
|
NM_018714.3(COG1):c.2620-10T>G
|
rs144989249
|
0.00513
|
NM_006348.5(COG5):c.*437A>G
|
rs193127052
|
0.00506
|
NM_012257.4(HBP1):c.*974G>A
|
rs115287891
|
0.00499
|
NM_018714.3(COG1):c.522T>C (p.Pro174=)
|
rs75460067
|
0.00469
|
NM_020751.3(COG6):c.153+19G>A
|
rs45508796
|
0.00460
|
NM_012257.4(HBP1):c.*448C>T
|
rs147954001
|
0.00452
|
NM_018714.3(COG1):c.2231A>G (p.Tyr744Cys)
|
rs7208207
|
0.00447
|
NM_007357.3(COG2):c.1014T>C (p.Asp338=)
|
rs113173809
|
0.00426
|
NM_018714.3(COG1):c.775G>T (p.Val259Leu)
|
rs139304974
|
0.00419
|
NM_007357.3(COG2):c.183C>T (p.Val61=)
|
rs79749108
|
0.00410
|
NM_018389.5(SLC35C1):c.1047G>A (p.Pro349=)
|
rs113735964
|
0.00399
|
NM_018714.3(COG1):c.1712G>A (p.Arg571Gln)
|
rs141750466
|
0.00398
|
NM_018389.5(SLC35C1):c.1054C>T (p.Pro352Ser)
|
rs145613857
|
0.00391
|
NM_006348.5(COG5):c.1247A>G (p.Tyr416Cys)
|
rs41276187
|
0.00389
|
NM_018389.5(SLC35C1):c.-88T>G
|
rs546865255
|
0.00386
|
NM_006348.5(COG5):c.735T>A (p.Ile245=)
|
rs116603307
|
0.00385
|
NM_001098832.2(VCF1):c.*1228G>A
|
rs141573449
|
0.00381
|
NM_018389.5(SLC35C1):c.-653C>T
|
rs150274138
|
0.00348
|
NM_153603.4(COG7):c.534G>A (p.Glu178=)
|
rs80204521
|
0.00330
|
NM_020751.3(COG6):c.1180A>G (p.Asn394Asp)
|
rs34623774
|
0.00327
|
NM_020751.3(COG6):c.*149G>T
|
rs55787876
|
0.00326
|
NM_006302.3(MOGS):c.894C>T (p.Leu298=)
|
rs146748462
|
0.00321
|
NM_006302.3(MOGS):c.881C>T (p.Pro294Leu)
|
rs184209905
|
0.00318
|
NM_006416.5(SLC35A1):c.133A>G (p.Thr45Ala)
|
rs145006535
|
0.00306
|
NM_032382.5(COG8):c.578T>C (p.Val193Ala)
|
rs138647246
|
0.00304
|
NM_018389.5(SLC35C1):c.*1404G>A
|
rs142012266
|
0.00295
|
NM_020751.3(COG6):c.*40A>G
|
rs185838939
|
0.00295
|
NM_018389.4(SLC35C1):c.-665C>T
|
rs530622849
|
0.00288
|
NM_018389.5(SLC35C1):c.522C>T (p.Cys174=)
|
rs141379070
|
0.00284
|
NM_020751.3(COG6):c.358A>G (p.Ser120Gly)
|
rs139313781
|
0.00280
|
NM_020751.3(COG6):c.1693-7_1693-6del
|
rs1491507046
|
0.00273
|
NM_032382.5(COG8):c.903C>G (p.Pro301=)
|
rs140736262
|
0.00271
|
NM_006348.5(COG5):c.1262A>G (p.His421Arg)
|
rs35393416
|
0.00266
|
NM_152464.3(TMEM199):c.156A>G (p.Gln52=)
|
rs116914442
|
0.00259
|
NM_007357.3(COG2):c.1532C>G (p.Thr511Ser)
|
rs143526339
|
0.00255
|
NM_005765.3(ATP6AP2):c.38-5T>C
|
rs190477001
|
0.00243
|
NM_153603.4(COG7):c.1178A>G (p.His393Arg)
|
rs116331296
|
0.00233
|
NM_020751.3(COG6):c.*555G>A
|
rs140263403
|
0.00232
|
NM_018714.3(COG1):c.1893C>T (p.Cys631=)
|
rs80232475
|
0.00230
|
NM_020751.3(COG6):c.*589C>G
|
rs144047200
|
0.00229
|
NM_020751.3(COG6):c.729C>T (p.Asp243=)
|
rs117688574
|
0.00218
|
NM_007357.3(COG2):c.381+4T>C
|
rs202180616
|
0.00213
|
NM_006348.5(COG5):c.538+20T>A
|
rs537674225
|
0.00209
|
NM_018389.5(SLC35C1):c.*1322A>G
|
rs148127105
|
0.00203
|
NM_006348.5(COG5):c.790T>A (p.Leu264Ile)
|
rs142276972
|
0.00201
|
NM_002408.4(MGAT2):c.229C>T (p.Pro77Ser)
|
rs145684106
|
0.00200
|
NM_006348.5(COG5):c.538+21A>T
|
rs568603073
|
0.00197
|
NM_020751.3(COG6):c.320A>T (p.Asp107Val)
|
rs146229425
|
0.00196
|
NM_018475.5(TMEM165):c.294C>T (p.Val98=)
|
rs11542641
|
0.00191
|
NM_012257.4(HBP1):c.*343C>T
|
rs534075932
|
0.00184
|
NM_015386.3(COG4):c.1560C>T (p.Ala520=)
|
rs115668774
|
0.00183
|
NM_015386.3(COG4):c.1017G>A (p.Gln339=)
|
rs138874791
|
0.00177
|
NM_018389.5(SLC35C1):c.-633T>G
|
rs566857902
|
0.00177
|
NM_007357.3(COG2):c.1528C>T (p.Arg510Cys)
|
rs142812849
|
0.00173
|
NM_004481.5(GALNT2):c.1077C>T (p.His359=)
|
rs147354186
|
0.00172
|
NM_006348.5(COG5):c.50G>T (p.Gly17Val)
|
rs139763861
|
0.00172
|
NM_153603.4(COG7):c.*30C>G
|
rs200982091
|
0.00171
|
NM_001497.4(B4GALT1):c.259C>T (p.Pro87Ser)
|
rs149181384
|
0.00166
|
NM_002408.4(MGAT2):c.1023T>C (p.Tyr341=)
|
rs111486860
|
0.00162
|
NM_006348.5(COG5):c.*157T>C
|
rs188638963
|
0.00160
|
NM_015386.3(COG4):c.897G>A (p.Gly299=)
|
rs138661425
|
0.00156
|
NM_153603.4(COG7):c.1971C>T (p.His657=)
|
rs114458562
|
0.00156
|
NM_004481.5(GALNT2):c.648A>T (p.Gln216His)
|
rs142046356
|
0.00155
|
NM_012257.4(HBP1):c.*617C>A
|
rs183289135
|
0.00155
|
NM_153603.4(COG7):c.2283C>T (p.Thr761=)
|
rs144814374
|
0.00150
|
NM_006348.5(COG5):c.1776T>C (p.Ala592=)
|
rs142970891
|
0.00142
|
NM_005765.3(ATP6AP2):c.1050T>C (p.Asp350=)
|
rs79790275
|
0.00141
|
NM_006302.3(MOGS):c.1581C>A (p.Asp527Glu)
|
rs200508287
|
0.00140
|
NM_153603.4(COG7):c.810+6del
|
rs150104389
|
0.00139
|
NM_002408.4(MGAT2):c.99G>T (p.Lys33Asn)
|
rs140584714
|
0.00138
|
NM_006348.5(COG5):c.2124A>G (p.Arg708=)
|
rs148020994
|
0.00135
|
NM_001497.4(B4GALT1):c.1050A>G (p.Glu350=)
|
rs147070468
|
0.00134
|
NM_018714.3(COG1):c.2304A>G (p.Thr768=)
|
rs147598221
|
0.00134
|
NM_015386.3(COG4):c.592C>T (p.Arg198Cys)
|
rs118183032
|
0.00133
|
NM_020751.3(COG6):c.65A>G (p.Asn22Ser)
|
rs149055210
|
0.00133
|
NM_002408.4(MGAT2):c.360G>A (p.Leu120=)
|
rs148802016
|
0.00125
|
NM_006348.5(COG5):c.1683A>G (p.Thr561=)
|
rs140610590
|
0.00125
|
NM_018714.3(COG1):c.401C>T (p.Ser134Leu)
|
rs146066919
|
0.00125
|
NM_153603.4(COG7):c.1137+11A>C
|
rs74012174
|
0.00124
|
NM_006302.3(MOGS):c.2055T>C (p.Tyr685=)
|
rs202094225
|
0.00122
|
NM_018389.5(SLC35C1):c.598G>A (p.Val200Ile)
|
rs146971634
|
0.00118
|
NM_020751.3(COG6):c.1308T>G (p.Leu436=)
|
rs61754105
|
0.00118
|
NM_006302.3(MOGS):c.1944G>A (p.Glu648=)
|
rs201547060
|
0.00113
|
NM_018389.5(SLC35C1):c.*647T>C
|
rs372196593
|
0.00109
|
NM_018389.5(SLC35C1):c.*1569G>C
|
rs139986610
|
0.00108
|
NM_018475.5(TMEM165):c.921T>G (p.Val307=)
|
rs149833286
|
0.00108
|
NM_006348.5(COG5):c.1160G>A (p.Arg387His)
|
rs35258567
|
0.00106
|
NM_007357.3(COG2):c.402A>G (p.Ile134Met)
|
rs139595158
|
0.00106
|
NM_032382.5(COG8):c.386T>C (p.Val129Ala)
|
rs146248068
|
0.00101
|
NM_153603.4(COG7):c.567T>C (p.Ser189=)
|
rs115543944
|
0.00101
|
NM_002408.4(MGAT2):c.733G>C (p.Val245Leu)
|
rs117536357
|
0.00100
|
NM_020751.3(COG6):c.1693-12T>C
|
rs561776134
|
0.00097
|
NM_006348.5(COG5):c.298C>T (p.Leu100Phe)
|
rs150351852
|
0.00096
|
NM_153603.4(COG7):c.850A>T (p.Ile284Phe)
|
rs115605801
|
0.00094
|
NM_006302.3(MOGS):c.12C>G (p.Gly4=)
|
rs555329045
|
0.00093
|
NM_006348.5(COG5):c.451A>G (p.Ile151Val)
|
rs79413133
|
0.00091
|
NM_153603.4(COG7):c.900C>T (p.Asn300=)
|
rs112611398
|
0.00091
|
NM_018475.5(TMEM165):c.96G>T (p.Arg32=)
|
rs769539033
|
0.00090
|
NM_032382.5(COG8):c.5C>T (p.Ala2Val)
|
rs151318611
|
0.00089
|
NM_002408.4(MGAT2):c.*228A>G
|
rs118186898
|
0.00088
|
NM_153603.4(COG7):c.1888-17G>A
|
rs112887835
|
0.00088
|
NM_002408.4(MGAT2):c.768T>G (p.Leu256=)
|
rs77872234
|
0.00086
|
NM_006348.5(COG5):c.1756C>T (p.His586Tyr)
|
rs151129529
|
0.00086
|
NM_006348.5(COG5):c.293-18A>G
|
rs75441879
|
0.00083
|
NM_006348.5(COG5):c.927T>C (p.His309=)
|
rs140684568
|
0.00083
|
NM_007357.3(COG2):c.2166C>T (p.Leu722=)
|
rs2296801
|
0.00080
|
NM_006302.3(MOGS):c.1851T>A (p.His617Gln)
|
rs199939051
|
0.00079
|
NM_153603.4(COG7):c.1137+8C>T
|
rs75523257
|
0.00079
|
NM_018475.5(TMEM165):c.433+15C>A
|
rs370138167
|
0.00078
|
NM_020751.3(COG6):c.1645G>T (p.Gly549Cys)
|
rs141114931
|
0.00078
|
NM_153603.4(COG7):c.1113C>T (p.Leu371=)
|
rs114661874
|
0.00078
|
NM_153603.4(COG7):c.319-12C>T
|
rs201965984
|
0.00077
|
NM_001164277.2(SLC37A4):c.497G>A (p.Arg166His)
|
rs186476316
|
0.00076
|
NM_018475.5(TMEM165):c.603T>C (p.Asp201=)
|
rs145661285
|
0.00076
|
NM_032382.5(COG8):c.603G>A (p.Val201=)
|
rs141435327
|
0.00076
|
NM_153603.4(COG7):c.1718G>A (p.Arg573Gln)
|
rs143639857
|
0.00076
|
NM_006302.3(MOGS):c.858G>C (p.Gln286His)
|
rs202095654
|
0.00073
|
NM_018389.5(SLC35C1):c.748G>A (p.Gly250Arg)
|
rs148606857
|
0.00073
|
NM_020751.3(COG6):c.1145A>G (p.Lys382Arg)
|
rs139371264
|
0.00073
|
NM_020751.3(COG6):c.1693-7T>A
|
rs34566895
|
0.00073
|
NM_006348.5(COG5):c.*550A>G
|
rs538476088
|
0.00070
|
NM_005660.3(SLC35A2):c.990C>T (p.Leu330=)
|
rs146079657
|
0.00069
|
NM_020751.3(COG6):c.1947G>A (p.Pro649=)
|
rs147311831
|
0.00069
|
NM_006302.3(MOGS):c.1124C>T (p.Thr375Ile)
|
rs200888878
|
0.00068
|
NM_007357.3(COG2):c.627G>A (p.Gln209=)
|
rs150261948
|
0.00068
|
NM_018389.5(SLC35C1):c.254C>T (p.Thr85Met)
|
rs150215024
|
0.00068
|
NM_153603.4(COG7):c.1455C>T (p.Phe485=)
|
rs116153163
|
0.00068
|
NM_153603.4(COG7):c.75C>G (p.Ser25=)
|
rs149481813
|
0.00068
|
NM_006348.5(COG5):c.1037C>T (p.Pro346Leu)
|
rs143773937
|
0.00067
|
NM_018389.4(SLC35C1):c.-657C>A
|
rs550333679
|
0.00067
|
NM_018389.5(SLC35C1):c.767G>A (p.Arg256His)
|
rs751906696
|
0.00064
|
NM_018714.3(COG1):c.1282-3T>C
|
rs188853520
|
0.00064
|
NM_006348.5(COG5):c.1826T>C (p.Ile609Thr)
|
rs142433421
|
0.00063
|
NM_007357.3(COG2):c.1911C>T (p.Gly637=)
|
rs138149289
|
0.00062
|
NM_015386.3(COG4):c.171+3G>A
|
rs368602741
|
0.00061
|
NM_020751.3(COG6):c.1759C>T (p.Arg587Cys)
|
rs144843064
|
0.00061
|
NM_153603.4(COG7):c.2052G>A (p.Ser684=)
|
rs142744907
|
0.00060
|
NM_006416.5(SLC35A1):c.355-7T>C
|
rs774147829
|
0.00059
|
NM_018475.5(TMEM165):c.204C>G (p.Val68=)
|
rs558601598
|
0.00059
|
NM_153603.4(COG7):c.406G>A (p.Ala136Thr)
|
rs149163316
|
0.00059
|
NM_007357.3(COG2):c.218A>G (p.Asn73Ser)
|
rs201791868
|
0.00058
|
NM_018714.3(COG1):c.1498A>T (p.Ser500Cys)
|
rs143051453
|
0.00058
|
NM_020751.3(COG6):c.*1508G>T
|
rs572737538
|
0.00058
|
NM_005660.3(SLC35A2):c.72G>T (p.Glu24Asp)
|
rs374961453
|
0.00057
|
NM_006348.5(COG5):c.1211A>G (p.Gln404Arg)
|
rs189560910
|
0.00056
|
NM_006348.5(COG5):c.1290C>A (p.Phe430Leu)
|
rs184902233
|
0.00056
|
NM_007357.3(COG2):c.381+8C>T
|
rs369923399
|
0.00054
|
NM_007357.3(COG2):c.485+8T>A
|
rs200082688
|
0.00054
|
NM_001164277.2(SLC37A4):c.663G>A (p.Leu221=)
|
rs150083315
|
0.00053
|
NM_032382.5(COG8):c.1682C>T (p.Thr561Met)
|
rs143411142
|
0.00053
|
NM_001164277.2(SLC37A4):c.242C>T (p.Ser81Phe)
|
rs181879065
|
0.00051
|
NM_002408.4(MGAT2):c.609T>C (p.Asn203=)
|
rs147375948
|
0.00051
|
NM_006302.3(MOGS):c.2062G>A (p.Ala688Thr)
|
rs186098891
|
0.00051
|
NM_032382.5(COG8):c.1017C>T (p.Gly339=)
|
rs72795277
|
0.00051
|
NM_032382.5(COG8):c.249C>G (p.Ala83=)
|
rs144030835
|
0.00051
|
NM_007357.3(COG2):c.1740C>T (p.Phe580=)
|
rs143945965
|
0.00049
|
NM_007357.3(COG2):c.2115+14C>T
|
rs190842171
|
0.00048
|
NM_020751.3(COG6):c.*720A>G
|
rs570074271
|
0.00048
|
NM_018714.3(COG1):c.1710G>A (p.Leu570=)
|
rs139407216
|
0.00047
|
NM_001164277.2(SLC37A4):c.1286A>C (p.Glu429Ala)
|
rs149974794
|
0.00046
|
NM_018714.3(COG1):c.2418G>A (p.Ala806=)
|
rs141305065
|
0.00046
|
NM_018714.3(COG1):c.743-10C>G
|
rs185592690
|
0.00046
|
NM_020751.3(COG6):c.-53T>G
|
rs534007509
|
0.00046
|
NM_153603.4(COG7):c.319-18C>A
|
rs370957274
|
0.00046
|
NM_005660.3(SLC35A2):c.1078G>A (p.Val360Ile)
|
rs138190020
|
0.00045
|
NM_006302.3(MOGS):c.85C>G (p.Arg29Gly)
|
rs369653963
|
0.00044
|
NM_032382.5(COG8):c.597C>T (p.Asn199=)
|
rs113642086
|
0.00044
|
NM_006416.5(SLC35A1):c.556T>C (p.Leu186=)
|
rs147999550
|
0.00043
|
NM_020751.3(COG6):c.370-18A>G
|
rs184193902
|
0.00043
|
NM_032382.5(COG8):c.1467C>T (p.Ser489=)
|
rs138741747
|
0.00043
|
NM_001164277.2(SLC37A4):c.205G>T (p.Val69Leu)
|
rs375754042
|
0.00042
|
NM_006348.5(COG5):c.361A>C (p.Ile121Leu)
|
rs138976539
|
0.00042
|
NM_007357.3(COG2):c.846T>C (p.Phe282=)
|
rs145037094
|
0.00042
|
NM_020751.3(COG6):c.*1532T>G
|
rs61954232
|
0.00042
|
NM_153603.4(COG7):c.523G>T (p.Val175Leu)
|
rs116645835
|
0.00042
|
NM_005660.3(SLC35A2):c.30C>G (p.Thr10=)
|
rs373480204
|
0.00041
|
NM_006302.3(MOGS):c.2021G>A (p.Arg674Gln)
|
rs200966949
|
0.00041
|
NM_006302.3(MOGS):c.2123G>A (p.Arg708His)
|
rs181059661
|
0.00041
|
NM_001164277.2(SLC37A4):c.100G>A (p.Val34Ile)
|
rs782644732
|
0.00039
|
NM_002408.4(MGAT2):c.-143G>C
|
rs547937523
|
0.00039
|
NM_006348.5(COG5):c.1475+16A>G
|
rs201100132
|
0.00039
|
NM_006348.5(COG5):c.2271C>T (p.Pro757=)
|
rs145648013
|
0.00039
|
NM_006348.5(COG5):c.1750-14T>G
|
rs199592702
|
0.00038
|
NM_018389.5(SLC35C1):c.534C>T (p.Ile178=)
|
rs149296455
|
0.00038
|
NM_018714.3(COG1):c.1350G>A (p.Gln450=)
|
rs143699348
|
0.00038
|
NM_006348.5(COG5):c.1184G>A (p.Arg395His)
|
rs142357535
|
0.00037
|
NM_020751.3(COG6):c.*1196A>T
|
rs779302124
|
0.00037
|
NM_005660.3(SLC35A2):c.561C>T (p.Ala187=)
|
rs370394797
|
0.00036
|
NM_006348.5(COG5):c.2023C>T (p.Arg675Cys)
|
rs149517266
|
0.00036
|
NM_006348.5(COG5):c.247C>T (p.His83Tyr)
|
rs149488863
|
0.00036
|
NM_006348.5(COG5):c.264A>G (p.Ala88=)
|
rs113660545
|
0.00036
|
NM_015386.3(COG4):c.539A>G (p.Lys180Arg)
|
rs138693104
|
0.00036
|
NM_006348.5(COG5):c.15C>G (p.Gly5=)
|
rs202123650
|
0.00035
|
NM_020751.3(COG6):c.1233A>G (p.Lys411=)
|
rs201806513
|
0.00035
|
NM_006348.5(COG5):c.1903A>G (p.Lys635Glu)
|
rs140418178
|
0.00034
|
NM_012257.4(HBP1):c.*636C>T
|
rs551727433
|
0.00034
|
NM_018714.3(COG1):c.2900C>G (p.Pro967Arg)
|
rs147588256
|
0.00034
|
NM_032382.5(COG8):c.1724C>T (p.Thr575Ile)
|
rs201914539
|
0.00034
|
NM_006302.3(MOGS):c.499A>C (p.Arg167=)
|
rs371747622
|
0.00033
|
NM_020751.3(COG6):c.*1181T>C
|
rs544870155
|
0.00033
|
NM_032382.5(COG8):c.1741C>A (p.Pro581Thr)
|
rs548002506
|
0.00033
|
NM_153603.4(COG7):c.170-4A>G
|
rs544015151
|
0.00032
|
NM_006302.3(MOGS):c.1604G>A (p.Arg535Gln)
|
rs199528323
|
0.00031
|
NM_007357.3(COG2):c.2026G>A (p.Ala676Thr)
|
rs149248784
|
0.00031
|
NM_032382.5(COG8):c.19A>G (p.Ile7Val)
|
rs200765847
|
0.00031
|
NM_153603.4(COG7):c.1852G>A (p.Ala618Thr)
|
rs145412851
|
0.00031
|
NM_015386.3(COG4):c.2030A>G (p.Asp677Gly)
|
rs201323781
|
0.00030
|
NM_032382.5(COG8):c.1079G>A (p.Gly360Glu)
|
rs142169776
|
0.00030
|
NM_032382.5(COG8):c.1620A>C (p.Leu540=)
|
rs189199610
|
0.00030
|
NM_153603.4(COG7):c.405C>T (p.Ser135=)
|
rs143571247
|
0.00030
|
NM_006348.5(COG5):c.117C>T (p.Asn39=)
|
rs138518242
|
0.00029
|
NM_006348.5(COG5):c.920T>C (p.Met307Thr)
|
rs372882041
|
0.00029
|
NM_018714.3(COG1):c.96G>A (p.Gly32=)
|
rs143964203
|
0.00029
|
NM_012257.4(HBP1):c.*745T>C
|
rs190095596
|
0.00028
|
NM_006348.5(COG5):c.2401T>C (p.Ser801Pro)
|
rs141942249
|
0.00027
|
NM_006348.5(COG5):c.2485C>T (p.Gln829Ter)
|
rs549788738
|
0.00027
|
NM_153603.4(COG7):c.360T>G (p.Leu120=)
|
rs563111337
|
0.00027
|
NM_001164277.2(SLC37A4):c.1042_1043del (p.Leu348fs)
|
rs80356491
|
0.00026
|
NM_002408.4(MGAT2):c.*722T>C
|
rs571740661
|
0.00026
|
NM_002408.4(MGAT2):c.146G>A (p.Gly49Asp)
|
rs201411811
|
0.00026
|
NM_018475.5(TMEM165):c.52C>A (p.Leu18Met)
|
rs756276628
|
0.00026
|
NM_002408.4(MGAT2):c.232G>A (p.Ala78Thr)
|
rs138365004
|
0.00025
|
NM_007357.3(COG2):c.405A>G (p.Gln135=)
|
rs182580653
|
0.00025
|
NM_005660.3(SLC35A2):c.1056T>C (p.Ser352=)
|
rs56111636
|
0.00024
|
NM_006416.5(SLC35A1):c.507+8A>G
|
rs201797109
|
0.00024
|
NM_007357.3(COG2):c.2061C>T (p.Asp687=)
|
rs374676672
|
0.00024
|
NM_018714.3(COG1):c.2406C>T (p.Thr802=)
|
rs149083729
|
0.00024
|
NM_020751.3(COG6):c.1263T>C (p.His421=)
|
rs147295042
|
0.00024
|
NM_153603.4(COG7):c.2192G>A (p.Arg731His)
|
rs149289920
|
0.00024
|
NM_005660.3(SLC35A2):c.12T>G (p.Val4=)
|
rs782793880
|
0.00023
|
NM_005660.3(SLC35A2):c.942C>T (p.Arg314=)
|
rs143797243
|
0.00023
|
NM_006302.3(MOGS):c.298C>T (p.Arg100Cys)
|
rs758917879
|
0.00023
|
NM_153603.4(COG7):c.435+2T>C
|
rs201446992
|
0.00023
|
NM_012257.4(HBP1):c.*365T>C
|
rs773755170
|
0.00022
|
NM_018714.3(COG1):c.1117G>A (p.Val373Met)
|
rs201886877
|
0.00022
|
NM_153603.4(COG7):c.86C>T (p.Ala29Val)
|
rs146918812
|
0.00022
|
NM_002408.4(MGAT2):c.-296C>T
|
rs754950478
|
0.00021
|
NM_006302.3(MOGS):c.664G>A (p.Gly222Arg)
|
rs3213671
|
0.00021
|
NM_015386.3(COG4):c.1074C>T (p.Pro358=)
|
rs200278473
|
0.00021
|
NM_015386.3(COG4):c.1894T>C (p.Phe632Leu)
|
rs138701123
|
0.00021
|
NM_018475.5(TMEM165):c.54G>A (p.Leu18=)
|
rs376472202
|
0.00021
|
NM_018714.3(COG1):c.1243G>C (p.Glu415Gln)
|
rs142830395
|
0.00021
|
NM_018714.3(COG1):c.2365G>A (p.Glu789Lys)
|
rs201867802
|
0.00021
|
NM_020751.3(COG6):c.1827-4A>G
|
rs375878630
|
0.00021
|
NM_006348.5(COG5):c.*865C>G
|
rs540645627
|
0.00020
|
NM_007357.3(COG2):c.772G>A (p.Glu258Lys)
|
rs151309110
|
0.00020
|
NM_018714.3(COG1):c.1132G>C (p.Gly378Arg)
|
rs138121131
|
0.00020
|
NM_002408.4(MGAT2):c.*825A>G
|
rs780635680
|
0.00019
|
NM_002408.4(MGAT2):c.63C>T (p.Gly21=)
|
rs146729850
|
0.00019
|
NM_006302.3(MOGS):c.1443T>C (p.Asp481=)
|
rs370915826
|
0.00019
|
NM_006302.3(MOGS):c.1484G>A (p.Arg495Gln)
|
rs34075781
|
0.00019
|
NM_007357.3(COG2):c.2110G>A (p.Glu704Lys)
|
rs140155560
|
0.00019
|
NM_018389.5(SLC35C1):c.*1418C>A
|
rs575219836
|
0.00019
|
NM_018389.5(SLC35C1):c.706G>A (p.Val236Ile)
|
rs200146272
|
0.00019
|
NM_020751.3(COG6):c.*1210A>G
|
rs367728831
|
0.00019
|
NM_032382.5(COG8):c.886G>A (p.Glu296Lys)
|
rs149850861
|
0.00019
|
NM_153603.4(COG7):c.1410-17C>A
|
rs373102854
|
0.00019
|
NM_002408.4(MGAT2):c.*372A>T
|
rs757674496
|
0.00018
|
NM_006302.3(MOGS):c.806G>A (p.Gly269Glu)
|
rs201775541
|
0.00018
|
NM_007357.3(COG2):c.1189T>C (p.Leu397=)
|
rs372067889
|
0.00018
|
NM_015386.3(COG4):c.558T>C (p.Asp186=)
|
rs376885733
|
0.00018
|
NM_018714.3(COG1):c.2221-7C>T
|
rs574849133
|
0.00018
|
NM_006348.5(COG5):c.1725G>A (p.Glu575=)
|
rs145128460
|
0.00017
|
NM_006348.5(COG5):c.1789C>T (p.Leu597Phe)
|
rs148575627
|
0.00017
|
NM_006416.5(SLC35A1):c.258G>A (p.Lys86=)
|
rs147860973
|
0.00017
|
NM_018714.3(COG1):c.2073+17C>T
|
rs375124338
|
0.00017
|
NM_001135146.2(SLC39A8):c.1166A>G (p.Asn389Ser)
|
rs146759817
|
0.00016
|
NM_002408.4(MGAT2):c.-425C>T
|
rs762760581
|
0.00016
|
NM_006302.3(MOGS):c.1587C>T (p.Asp529=)
|
rs190772368
|
0.00016
|
NM_006348.5(COG5):c.1027-12T>G
|
rs752334970
|
0.00016
|
NM_006348.5(COG5):c.1349A>G (p.Tyr450Cys)
|
rs143592207
|
0.00016
|
NM_006348.5(COG5):c.2295+8A>G
|
rs377392848
|
0.00016
|
NM_006348.5(COG5):c.454T>C (p.Leu152=)
|
rs200107630
|
0.00016
|
NM_006348.5(COG5):c.67G>C (p.Ala23Pro)
|
rs146391348
|
0.00016
|
NM_015386.3(COG4):c.1123C>T (p.Arg375Cys)
|
rs140920304
|
0.00016
|
NM_015386.3(COG4):c.513G>A (p.Ser171=)
|
rs369063742
|
0.00016
|
NM_018389.5(SLC35C1):c.1055C>A (p.Pro352His)
|
rs200843978
|
0.00016
|
NM_018475.5(TMEM165):c.351A>G (p.Ala117=)
|
rs747450377
|
0.00016
|
NM_018714.3(COG1):c.2362T>C (p.Ser788Pro)
|
rs546366531
|
0.00016
|
NM_020751.3(COG6):c.1075-12A>C
|
rs370228676
|
0.00016
|
NM_020751.3(COG6):c.261T>C (p.Asn87=)
|
rs146261996
|
0.00016
|
NM_153603.4(COG7):c.811-14C>G
|
rs545654100
|
0.00016
|
NM_181581.3(DUS4L):c.-323G>A
|
rs555908807
|
0.00016
|
NM_007357.3(COG2):c.1957G>A (p.Val653Ile)
|
rs747920088
|
0.00015
|
NM_007357.3(COG2):c.899+15C>G
|
rs753476484
|
0.00015
|
NM_018389.5(SLC35C1):c.226G>A (p.Val76Ile)
|
rs200202916
|
0.00015
|
NM_032382.5(COG8):c.1549C>G (p.Leu517Val)
|
rs138398268
|
0.00015
|
NM_153603.4(COG7):c.835G>A (p.Val279Ile)
|
rs367796897
|
0.00015
|
NM_006302.3(MOGS):c.1826G>A (p.Arg609His)
|
rs377287243
|
0.00014
|
NM_006302.3(MOGS):c.2310G>A (p.Gly770=)
|
rs371844687
|
0.00014
|
NM_015386.3(COG4):c.1403G>A (p.Arg468Gln)
|
rs200052272
|
0.00014
|
NM_018389.5(SLC35C1):c.*1619C>A
|
rs552263015
|
0.00014
|
NM_018389.5(SLC35C1):c.-569C>T
|
rs886048307
|
0.00014
|
NM_153603.4(COG7):c.1499A>G (p.Tyr500Cys)
|
rs146603761
|
0.00014
|
NM_153603.4(COG7):c.170-20T>C
|
rs760817103
|
0.00014
|
NM_153603.4(COG7):c.1972G>A (p.Ala658Thr)
|
rs115073082
|
0.00014
|
NM_153603.4(COG7):c.904G>A (p.Val302Met)
|
rs116314856
|
0.00014
|
NM_001164277.2(SLC37A4):c.148+20G>A
|
rs782050642
|
0.00013
|
NM_006302.3(MOGS):c.1130A>G (p.Gln377Arg)
|
rs202102671
|
0.00013
|
NM_006348.5(COG5):c.1686+7A>G
|
rs373280339
|
0.00013
|
NM_006348.5(COG5):c.524G>A (p.Ser175Asn)
|
rs770046536
|
0.00013
|
NM_007357.3(COG2):c.1015G>C (p.Ala339Pro)
|
rs767969104
|
0.00013
|
NM_018389.5(SLC35C1):c.747C>T (p.Leu249=)
|
rs567642788
|
0.00013
|
NM_018714.3(COG1):c.2482A>G (p.Lys828Glu)
|
rs1011259443
|
0.00013
|
NM_018714.3(COG1):c.560+15C>T
|
rs201364732
|
0.00013
|
NM_020751.3(COG6):c.*443A>G
|
rs886050233
|
0.00013
|
NM_032382.5(COG8):c.1373C>T (p.Ala458Val)
|
rs149531391
|
0.00013
|
NM_032382.5(COG8):c.525G>A (p.Leu175=)
|
rs187905134
|
0.00013
|
NM_005660.3(SLC35A2):c.750C>G (p.Leu250=)
|
rs375311728
|
0.00012
|
NM_006302.3(MOGS):c.2434C>T (p.Arg812Cys)
|
rs368859958
|
0.00012
|
NM_006302.3(MOGS):c.249C>G (p.Ala83=)
|
rs764778419
|
0.00012
|
NM_006348.5(COG5):c.2299G>T (p.Ala767Ser)
|
rs184760203
|
0.00012
|
NM_015386.3(COG4):c.1005C>T (p.Phe335=)
|
rs183569708
|
0.00012
|
NM_015386.3(COG4):c.2225A>G (p.Asn742Ser)
|
rs200259754
|
0.00012
|
NM_018389.5(SLC35C1):c.*1127G>A
|
rs187013469
|
0.00012
|
NM_018389.5(SLC35C1):c.*572C>T
|
rs886048318
|
0.00012
|
NM_018389.5(SLC35C1):c.663G>A (p.Pro221=)
|
rs111773874
|
0.00012
|
NM_018714.3(COG1):c.1230G>A (p.Pro410=)
|
rs148502827
|
0.00012
|
NM_018714.3(COG1):c.1912A>C (p.Ser638Arg)
|
rs763484856
|
0.00012
|
NM_018714.3(COG1):c.265C>T (p.Arg89Cys)
|
rs766457949
|
0.00012
|
NM_018714.3(COG1):c.384G>A (p.Pro128=)
|
rs142827255
|
0.00012
|
NM_018714.3(COG1):c.542C>T (p.Ala181Val)
|
rs534708439
|
0.00012
|
NM_020751.3(COG6):c.1533A>T (p.Thr511=)
|
rs201542120
|
0.00012
|
NM_020751.3(COG6):c.155A>G (p.Glu52Gly)
|
rs201308360
|
0.00012
|
NM_020751.3(COG6):c.1693-8_1693-6del
|
rs375280565
|
0.00012
|
NM_153603.4(COG7):c.2013G>A (p.Leu671=)
|
rs370447404
|
0.00012
|
NM_153603.4(COG7):c.2087C>T (p.Ala696Val)
|
rs376170815
|
0.00012
|
NM_001497.4(B4GALT1):c.392C>T (p.Pro131Leu)
|
rs150774756
|
0.00011
|
NM_002408.4(MGAT2):c.*189T>G
|
rs145164655
|
0.00011
|
NM_005660.3(SLC35A2):c.169G>A (p.Ala57Thr)
|
rs151120284
|
0.00011
|
NM_005660.3(SLC35A2):c.447C>A (p.Ile149=)
|
rs782379632
|
0.00011
|
NM_005765.3(ATP6AP2):c.490G>A (p.Val164Ile)
|
rs142013283
|
0.00011
|
NM_006348.5(COG5):c.2232G>A (p.Pro744=)
|
rs374402677
|
0.00011
|
NM_006348.5(COG5):c.267A>G (p.Gln89=)
|
rs763508355
|
0.00011
|
NM_006416.5(SLC35A1):c.194+18T>C
|
rs189860204
|
0.00011
|
NM_007357.3(COG2):c.1358G>A (p.Arg453Gln)
|
rs372577276
|
0.00011
|
NM_007357.3(COG2):c.1601T>A (p.Ile534Asn)
|
rs141178219
|
0.00011
|
NM_015386.3(COG4):c.1927T>C (p.Phe643Leu)
|
rs189821897
|
0.00011
|
NM_015386.3(COG4):c.2247C>A (p.Ile749=)
|
rs767522005
|
0.00011
|
NM_018389.5(SLC35C1):c.975G>A (p.Thr325=)
|
rs377098836
|
0.00011
|
NM_018475.5(TMEM165):c.899-17T>A
|
rs200798470
|
0.00011
|
NM_018714.3(COG1):c.2511-5C>G
|
rs201123101
|
0.00011
|
NM_018714.3(COG1):c.2619+11T>A
|
rs144115463
|
0.00011
|
NM_018714.3(COG1):c.315+8C>T
|
rs748732950
|
0.00011
|
NM_020751.3(COG6):c.*1248T>A
|
rs1036372047
|
0.00011
|
NM_020751.3(COG6):c.1021A>T (p.Asn341Tyr)
|
rs201922229
|
0.00011
|
NM_020751.3(COG6):c.730G>A (p.Val244Ile)
|
rs147560202
|
0.00011
|
NM_032382.5(COG8):c.522C>T (p.Ala174=)
|
rs375227294
|
0.00011
|
NM_153603.4(COG7):c.1205C>T (p.Ala402Val)
|
rs149533590
|
0.00011
|
NM_153603.4(COG7):c.525G>A (p.Val175=)
|
rs144180834
|
0.00011
|
NM_153603.4(COG7):c.954C>T (p.Tyr318=)
|
rs752563691
|
0.00011
|
NM_001164277.2(SLC37A4):c.956G>A (p.Arg319Gln)
|
rs782703235
|
0.00010
|
NM_002408.4(MGAT2):c.*310A>G
|
rs886050520
|
0.00010
|
NM_002408.4(MGAT2):c.-455C>T
|
rs886050511
|
0.00010
|
NM_006302.3(MOGS):c.1294G>A (p.Val432Ile)
|
rs552488837
|
0.00010
|
NM_006348.5(COG5):c.1586A>G (p.Gln529Arg)
|
rs377326343
|
0.00010
|
NM_006348.5(COG5):c.2088A>C (p.Ala696=)
|
rs372319280
|
0.00010
|
NM_006416.5(SLC35A1):c.890T>G (p.Leu297Arg)
|
rs201507608
|
0.00010
|
NM_015386.3(COG4):c.1106G>A (p.Arg369His)
|
rs146268306
|
0.00010
|
NM_015386.3(COG4):c.1931A>G (p.Asn644Ser)
|
rs144763147
|
0.00010
|
NM_018714.3(COG1):c.1688C>T (p.Ala563Val)
|
rs375617141
|
0.00010
|
NM_018714.3(COG1):c.2822G>A (p.Arg941His)
|
rs759050295
|
0.00010
|
NM_020751.3(COG6):c.1891G>A (p.Val631Met)
|
rs143909067
|
0.00010
|
NM_020751.3(COG6):c.303T>C (p.Leu101=)
|
rs764185523
|
0.00010
|
NM_020751.3(COG6):c.362G>A (p.Arg121His)
|
rs762985352
|
0.00010
|
NM_153603.4(COG7):c.*193G>A
|
rs191591988
|
0.00010
|
NM_153603.4(COG7):c.136C>T (p.Leu46=)
|
rs141138076
|
0.00010
|
NM_153603.4(COG7):c.1817C>A (p.Ala606Asp)
|
rs768615420
|
0.00010
|
NM_153603.4(COG7):c.754G>A (p.Gly252Arg)
|
rs766287686
|
0.00010
|
NM_001164277.2(SLC37A4):c.230G>T (p.Arg77Leu)
|
rs370839177
|
0.00009
|
NM_006302.3(MOGS):c.381C>G (p.Thr127=)
|
rs748519980
|
0.00009
|
NM_006348.5(COG5):c.*606A>G
|
rs772464238
|
0.00009
|
NM_006348.5(COG5):c.*986G>A
|
rs886061870
|
0.00009
|
NM_006348.5(COG5):c.1416G>A (p.Pro472=)
|
rs149574256
|
0.00009
|
NM_006348.5(COG5):c.2215T>C (p.Leu739=)
|
rs374796275
|
0.00009
|
NM_006348.5(COG5):c.292+14A>G
|
rs374007477
|
0.00009
|
NM_006348.5(COG5):c.795C>T (p.Asp265=)
|
rs372226278
|
0.00009
|
NM_012257.4(HBP1):c.*842A>G
|
rs530897270
|
0.00009
|
NM_015386.3(COG4):c.2251G>A (p.Asp751Asn)
|
rs200083914
|
0.00009
|
NM_015386.3(COG4):c.369+13G>T
|
rs199761750
|
0.00009
|
NM_015386.3(COG4):c.593G>A (p.Arg198His)
|
rs373443427
|
0.00009
|
NM_018389.5(SLC35C1):c.139C>T (p.Leu47Phe)
|
rs368455704
|
0.00009
|
NM_018714.3(COG1):c.1484G>A (p.Arg495Gln)
|
rs149030357
|
0.00009
|
NM_018714.3(COG1):c.1722C>T (p.Ser574=)
|
rs149888309
|
0.00009
|
NM_018714.3(COG1):c.2222C>T (p.Pro741Leu)
|
rs200395052
|
0.00009
|
NM_018714.3(COG1):c.2262G>C (p.Gln754His)
|
rs756535197
|
0.00009
|
NM_018714.3(COG1):c.2485A>C (p.Ser829Arg)
|
rs199752799
|
0.00009
|
NM_018714.3(COG1):c.546C>T (p.Ala182=)
|
rs768914690
|
0.00009
|
NM_018714.3(COG1):c.613G>A (p.Asp205Asn)
|
rs141474045
|
0.00009
|
NM_018714.3(COG1):c.838C>A (p.Leu280Met)
|
rs140691967
|
0.00009
|
NM_020751.3(COG6):c.1760G>A (p.Arg587His)
|
rs191156299
|
0.00009
|
NM_032382.4(COG8):c.-22A>C
|
rs377661832
|
0.00009
|
NM_153603.4(COG7):c.1822A>G (p.Ile608Val)
|
rs115813844
|
0.00009
|
NM_153603.4(COG7):c.972C>T (p.Phe324=)
|
rs747262700
|
0.00009
|
NM_005660.3(SLC35A2):c.112A>C (p.Ile38Leu)
|
rs782268788
|
0.00008
|
NM_006302.3(MOGS):c.1805G>A (p.Cys602Tyr)
|
rs372460563
|
0.00008
|
NM_006302.3(MOGS):c.375C>G (p.Gly125=)
|
rs369972550
|
0.00008
|
NM_006348.5(COG5):c.1780C>A (p.Gln594Lys)
|
rs754614179
|
0.00008
|
NM_006348.5(COG5):c.768A>T (p.Leu256Phe)
|
rs376958885
|
0.00008
|
NM_006416.5(SLC35A1):c.512A>G (p.Glu171Gly)
|
rs146938059
|
0.00008
|
NM_015386.3(COG4):c.349C>T (p.Arg117Cys)
|
rs149620212
|
0.00008
|
NM_018389.5(SLC35C1):c.607G>A (p.Val203Met)
|
rs368377475
|
0.00008
|
NM_018475.5(TMEM165):c.*236A>G
|
rs548381906
|
0.00008
|
NM_018714.3(COG1):c.2223G>A (p.Pro741=)
|
rs147260793
|
0.00008
|
NM_018714.3(COG1):c.2752A>G (p.Met918Val)
|
rs201733537
|
0.00008
|
NM_018714.3(COG1):c.2818G>A (p.Ala940Thr)
|
rs144896007
|
0.00008
|
NM_018714.3(COG1):c.402G>A (p.Ser134=)
|
rs765699770
|
0.00008
|
NM_020751.3(COG6):c.*86T>C
|
rs568183642
|
0.00008
|
NM_020751.3(COG6):c.1140C>T (p.Leu380=)
|
rs772945485
|
0.00008
|
NM_020751.3(COG6):c.1415A>G (p.Gln472Arg)
|
rs756742630
|
0.00008
|
NM_153603.4(COG7):c.1206G>A (p.Ala402=)
|
rs777152433
|
0.00008
|
NM_153603.4(COG7):c.1228G>A (p.Val410Ile)
|
rs199799595
|
0.00008
|
NM_153603.4(COG7):c.1973C>G (p.Ala658Gly)
|
rs770639224
|
0.00008
|
NM_153603.4(COG7):c.2213C>T (p.Thr738Met)
|
rs376359015
|
0.00008
|
NM_001164277.2(SLC37A4):c.496C>T (p.Arg166Cys)
|
rs11552539
|
0.00007
|
NM_001164277.2(SLC37A4):c.567T>C (p.Asn189=)
|
rs368678559
|
0.00007
|
NM_002408.4(MGAT2):c.48G>C (p.Val16=)
|
rs538166220
|
0.00007
|
NM_005660.3(SLC35A2):c.534C>T (p.Gly178=)
|
rs782518795
|
0.00007
|
NM_005660.3(SLC35A2):c.594C>T (p.Asn198=)
|
rs1012697477
|
0.00007
|
NM_006302.3(MOGS):c.370C>T (p.Gln124Ter)
|
rs587777323
|
0.00007
|
NM_006348.5(COG5):c.1313+15T>C
|
rs201626650
|
0.00007
|
NM_006348.5(COG5):c.1476T>C (p.Ser492=)
|
rs201478249
|
0.00007
|
NM_006348.5(COG5):c.1829C>A (p.Thr610Asn)
|
rs760831906
|
0.00007
|
NM_006348.5(COG5):c.586A>G (p.Asn196Asp)
|
rs201841638
|
0.00007
|
NM_006416.5(SLC35A1):c.16+19G>A
|
rs144960751
|
0.00007
|
NM_007357.3(COG2):c.1026+10C>T
|
rs375207649
|
0.00007
|
NM_007357.3(COG2):c.1066C>T (p.Arg356Trp)
|
rs200705175
|
0.00007
|
NM_018389.5(SLC35C1):c.19A>G (p.Lys7Glu)
|
rs771361211
|
0.00007
|
NM_018475.5(TMEM165):c.898+3A>G
|
rs369436814
|
0.00007
|
NM_018714.3(COG1):c.1744G>A (p.Val582Met)
|
rs778769386
|
0.00007
|
NM_018714.3(COG1):c.2620-11_2620-10del
|
rs780690910
|
0.00007
|
NM_032382.5(COG8):c.1305C>T (p.Leu435=)
|
rs760557680
|
0.00007
|
NM_153603.4(COG7):c.1264T>C (p.Leu422=)
|
rs765230344
|
0.00007
|
NM_153603.4(COG7):c.2064C>T (p.Ala688=)
|
rs375870009
|
0.00007
|
NM_153603.4(COG7):c.241T>G (p.Ser81Ala)
|
rs778408190
|
0.00007
|
NM_001164277.2(SLC37A4):c.1073C>T (p.Pro358Leu)
|
rs782025581
|
0.00006
|
NM_001164277.2(SLC37A4):c.972T>C (p.Ser324=)
|
rs781824710
|
0.00006
|
NM_002408.4(MGAT2):c.68T>C (p.Val23Ala)
|
rs371950590
|
0.00006
|
NM_002408.4(MGAT2):c.921A>G (p.Val307=)
|
rs763942335
|
0.00006
|
NM_005660.3(SLC35A2):c.1039G>A (p.Ala347Thr)
|
rs781948153
|
0.00006
|
NM_005660.3(SLC35A2):c.566G>A (p.Gly189Glu)
|
rs782745496
|
0.00006
|
NM_005660.3(SLC35A2):c.615C>T (p.Ala205=)
|
rs781922248
|
0.00006
|
NM_005660.3(SLC35A2):c.92-11G>A
|
rs368406784
|
0.00006
|
NM_006302.3(MOGS):c.1052G>C (p.Arg351Thr)
|
rs368536824
|
0.00006
|
NM_006302.3(MOGS):c.1111C>T (p.Arg371Cys)
|
rs776830090
|
0.00006
|
NM_006302.3(MOGS):c.1162C>G (p.Gln388Glu)
|
rs750125568
|
0.00006
|
NM_006302.3(MOGS):c.183G>T (p.Trp61Cys)
|
rs756379257
|
0.00006
|
NM_006302.3(MOGS):c.580-13G>A
|
rs375563032
|
0.00006
|
NM_006302.3(MOGS):c.754G>T (p.Asp252Tyr)
|
rs758528211
|
0.00006
|
NM_006302.3(MOGS):c.863G>A (p.Arg288Gln)
|
rs374993988
|
0.00006
|
NM_006348.5(COG5):c.2168+9G>A
|
rs746107488
|
0.00006
|
NM_006348.5(COG5):c.2169-16T>A
|
rs776440647
|
0.00006
|
NM_006348.5(COG5):c.2169-6G>A
|
rs200895224
|
0.00006
|
NM_006348.5(COG5):c.2456A>C (p.Gln819Pro)
|
rs34100214
|
0.00006
|
NM_006348.5(COG5):c.314C>T (p.Thr105Met)
|
rs755030238
|
0.00006
|
NM_006348.5(COG5):c.348-16C>T
|
rs780403880
|
0.00006
|
NM_007357.3(COG2):c.115C>T (p.Arg39Trp)
|
rs758358715
|
0.00006
|
NM_007357.3(COG2):c.1387C>T (p.Leu463Phe)
|
rs141191461
|
0.00006
|
NM_007357.3(COG2):c.2115+7C>T
|
rs368903742
|
0.00006
|
NM_007357.3(COG2):c.412C>T (p.Arg138Trp)
|
rs748137002
|
0.00006
|
NM_007357.3(COG2):c.722G>A (p.Arg241Gln)
|
rs565186449
|
0.00006
|
NM_007357.3(COG2):c.900-19A>T
|
rs888544323
|
0.00006
|
NM_015386.3(COG4):c.1208G>A (p.Cys403Tyr)
|
rs542338317
|
0.00006
|
NM_015386.3(COG4):c.1827+12G>C
|
rs372162273
|
0.00006
|
NM_015386.3(COG4):c.1840G>T (p.Glu614Ter)
|
rs1048764460
|
0.00006
|
NM_018389.5(SLC35C1):c.1025G>T (p.Gly342Val)
|
rs377292146
|
0.00006
|
NM_018389.5(SLC35C1):c.29G>A (p.Arg10Lys)
|
rs567155861
|
0.00006
|
NM_018389.5(SLC35C1):c.597C>T (p.Thr199=)
|
rs376082724
|
0.00006
|
NM_018389.5(SLC35C1):c.879G>A (p.Pro293=)
|
rs573349525
|
0.00006
|
NM_018389.5(SLC35C1):c.88G>A (p.Gly30Arg)
|
rs761945760
|
0.00006
|
NM_018389.5(SLC35C1):c.890A>G (p.Asn297Ser)
|
rs756683159
|
0.00006
|
NM_018389.5(SLC35C1):c.903G>T (p.Thr301=)
|
rs150743224
|
0.00006
|
NM_018475.5(TMEM165):c.816T>G (p.Gly272=)
|
rs372064871
|
0.00006
|
NM_018714.3(COG1):c.1982T>G (p.Ile661Ser)
|
rs139676777
|
0.00006
|
NM_018714.3(COG1):c.2281G>A (p.Gly761Ser)
|
rs771789779
|
0.00006
|
NM_018714.3(COG1):c.258C>T (p.Tyr86=)
|
rs60688184
|
0.00006
|
NM_018714.3(COG1):c.2890A>G (p.Thr964Ala)
|
rs777073858
|
0.00006
|
NM_018714.3(COG1):c.728A>G (p.Asn243Ser)
|
rs368856790
|
0.00006
|
NM_020751.3(COG6):c.1397G>A (p.Arg466His)
|
rs537646524
|
0.00006
|
NM_025114.4(CEP290):c.5668G>T (p.Gly1890Ter)
|
rs137852832
|
0.00006
|
NM_032382.5(COG8):c.1093G>C (p.Gly365Arg)
|
rs761354764
|
0.00006
|
NM_032382.5(COG8):c.1692C>T (p.Thr564=)
|
rs199504043
|
0.00006
|
NM_032382.5(COG8):c.741T>G (p.Phe247Leu)
|
rs142530290
|
0.00006
|
NM_032382.5(COG8):c.996C>T (p.Thr332=)
|
rs571595612
|
0.00006
|
NM_152464.3(TMEM199):c.92G>C (p.Arg31Pro)
|
rs782531869
|
0.00006
|
NM_153603.4(COG7):c.1476-3C>T
|
rs551490261
|
0.00006
|
NM_153603.4(COG7):c.1851C>T (p.Pro617=)
|
rs748835759
|
0.00006
|
NM_153603.4(COG7):c.1948T>C (p.Ser650Pro)
|
rs761925269
|
0.00006
|
NM_153603.4(COG7):c.2297G>A (p.Arg766Gln)
|
rs368136642
|
0.00006
|
NM_153603.4(COG7):c.581C>T (p.Ala194Val)
|
rs557121999
|
0.00006
|
NM_153603.4(COG7):c.921C>T (p.Pro307=)
|
rs115610955
|
0.00006
|
NM_153603.4(COG7):c.955G>A (p.Asp319Asn)
|
rs767025710
|
0.00006
|
NM_153603.4(COG7):c.973G>A (p.Ala325Thr)
|
rs116804305
|
0.00006
|
NM_001135146.2(SLC39A8):c.610G>T (p.Gly204Cys)
|
rs779241085
|
0.00005
|
NM_001164277.2(SLC37A4):c.631T>G (p.Leu211Val)
|
rs537115620
|
0.00005
|
NM_005660.3(SLC35A2):c.1063G>A (p.Ala355Thr)
|
rs376547003
|
0.00005
|
NM_005660.3(SLC35A2):c.1113G>A (p.Pro371=)
|
rs782443565
|
0.00005
|
NM_005660.3(SLC35A2):c.197T>C (p.Phe66Ser)
|
rs142990922
|
0.00005
|
NM_005660.3(SLC35A2):c.486C>T (p.Arg162=)
|
rs1348546724
|
0.00005
|
NM_005660.3(SLC35A2):c.639C>T (p.Ser213=)
|
rs782301792
|
0.00005
|
NM_005660.3(SLC35A2):c.747G>A (p.Gly249=)
|
rs144809041
|
0.00005
|
NM_005660.3(SLC35A2):c.74C>T (p.Pro25Leu)
|
rs781993117
|
0.00005
|
NM_005660.3(SLC35A2):c.771C>T (p.Ala257=)
|
rs782663029
|
0.00005
|
NM_005660.3(SLC35A2):c.828C>T (p.Leu276=)
|
rs782113085
|
0.00005
|
NM_005660.3(SLC35A2):c.90G>C (p.Ala30=)
|
rs1057522337
|
0.00005
|
NM_005660.3(SLC35A2):c.958G>T (p.Val320Leu)
|
rs140079332
|
0.00005
|
NM_006302.3(MOGS):c.1509A>C (p.Leu503=)
|
rs759481390
|
0.00005
|
NM_006302.3(MOGS):c.173C>T (p.Ser58Leu)
|
rs749393728
|
0.00005
|
NM_006302.3(MOGS):c.2336G>A (p.Arg779Gln)
|
rs774648411
|
0.00005
|
NM_006302.3(MOGS):c.2389C>T (p.Arg797Cys)
|
rs554882882
|
0.00005
|
NM_006348.5(COG5):c.1038G>A (p.Pro346=)
|
rs148802109
|
0.00005
|
NM_006348.5(COG5):c.2451G>A (p.Met817Ile)
|
rs760038268
|
0.00005
|
NM_006348.5(COG5):c.538+5del
|
rs761862013
|
0.00005
|
NM_006348.5(COG5):c.796A>T (p.Ile266Leu)
|
rs768338390
|
0.00005
|
NM_007357.3(COG2):c.1381-10C>T
|
rs765517219
|
0.00005
|
NM_007357.3(COG2):c.1755C>T (p.Ser585=)
|
rs557988820
|
0.00005
|
NM_007357.3(COG2):c.1934+3A>G
|
rs368077748
|
0.00005
|
NM_018389.5(SLC35C1):c.585G>A (p.Ser195=)
|
rs750284604
|
0.00005
|
NM_018389.5(SLC35C1):c.606C>T (p.Gly202=)
|
rs757590578
|
0.00005
|
NM_018475.5(TMEM165):c.*627A>C
|
rs541192339
|
0.00005
|
NM_018475.5(TMEM165):c.602A>G (p.Asp201Gly)
|
rs372893311
|
0.00005
|
NM_018475.5(TMEM165):c.930G>A (p.Ala310=)
|
rs368593849
|
0.00005
|
NM_018714.3(COG1):c.164G>C (p.Arg55Pro)
|
rs751859972
|
0.00005
|
NM_018714.3(COG1):c.20C>T (p.Ser7Leu)
|
rs200144944
|
0.00005
|
NM_018714.3(COG1):c.2666G>A (p.Arg889Gln)
|
rs148773959
|
0.00005
|
NM_018714.3(COG1):c.2826C>T (p.Ser942=)
|
rs767159115
|
0.00005
|
NM_018714.3(COG1):c.575A>C (p.His192Pro)
|
rs141340733
|
0.00005
|
NM_018714.3(COG1):c.914G>A (p.Gly305Glu)
|
rs375438969
|
0.00005
|
NM_020751.3(COG6):c.*1001C>G
|
rs764057670
|
0.00005
|
NM_020751.3(COG6):c.1071A>G (p.Leu357=)
|
rs746862943
|
0.00005
|
NM_020751.3(COG6):c.1149T>G (p.Phe383Leu)
|
rs886050227
|
0.00005
|
NM_020751.3(COG6):c.607A>C (p.Asn203His)
|
rs142984333
|
0.00005
|
NM_032382.5(COG8):c.*402A>G
|
rs547836079
|
0.00005
|
NM_032382.5(COG8):c.1006C>T (p.Arg336Trp)
|
rs757877420
|
0.00005
|
NM_032382.5(COG8):c.1785C>T (p.Cys595=)
|
rs761610722
|
0.00005
|
NM_032382.5(COG8):c.307C>T (p.Leu103=)
|
rs374827814
|
0.00005
|
NM_032382.5(COG8):c.704T>C (p.Met235Thr)
|
rs201646246
|
0.00005
|
NM_032382.5(COG8):c.914G>A (p.Gly305Asp)
|
rs941763771
|
0.00005
|
NM_153603.4(COG7):c.111A>G (p.Ala37=)
|
rs776897797
|
0.00005
|
NM_153603.4(COG7):c.1475+4G>A
|
rs372160869
|
0.00005
|
NM_153603.4(COG7):c.1888-18C>T
|
rs202123984
|
0.00005
|
NC_000007.14:g.107563953A>G
|
rs758429632
|
0.00004
|
NM_001135146.2(SLC39A8):c.923C>T (p.Thr308Met)
|
rs376000562
|
0.00004
|
NM_001164277.2(SLC37A4):c.1159A>G (p.Ile387Val)
|
rs782480303
|
0.00004
|
NM_001164277.2(SLC37A4):c.1243C>T (p.Arg415Ter)
|
rs121908979
|
0.00004
|
NM_001164277.2(SLC37A4):c.29G>A (p.Arg10His)
|
rs782500443
|
0.00004
|
NM_001164277.2(SLC37A4):c.703G>T (p.Val235Leu)
|
rs141105181
|
0.00004
|
NM_002408.4(MGAT2):c.*210C>A
|
rs1417886812
|
0.00004
|
NM_002408.4(MGAT2):c.636T>C (p.Asn212=)
|
rs781766964
|
0.00004
|
NM_002408.4(MGAT2):c.66C>T (p.Phe22=)
|
rs758108747
|
0.00004
|
NM_005660.3(SLC35A2):c.1050T>C (p.Ser350=)
|
rs782768502
|
0.00004
|
NM_005660.3(SLC35A2):c.1062C>T (p.Ser354=)
|
rs142781476
|
0.00004
|
NM_005660.3(SLC35A2):c.1100A>G (p.Gln367Arg)
|
rs782516328
|
0.00004
|
NM_005660.3(SLC35A2):c.1145C>T (p.Thr382Met)
|
rs781801728
|
0.00004
|
NM_005660.3(SLC35A2):c.801C>T (p.Tyr267=)
|
rs781910050
|
0.00004
|
NM_005660.3(SLC35A2):c.8C>T (p.Ala3Val)
|
rs946472167
|
0.00004
|
NM_005660.3(SLC35A2):c.958G>A (p.Val320Met)
|
rs140079332
|
0.00004
|
NM_006302.3(MOGS):c.1189G>A (p.Gly397Ser)
|
rs376850183
|
0.00004
|
NM_006302.3(MOGS):c.1588G>A (p.Asp530Asn)
|
rs749160883
|
0.00004
|
NM_006302.3(MOGS):c.1825C>T (p.Arg609Cys)
|
rs369797433
|
0.00004
|
NM_006302.3(MOGS):c.2138T>C (p.Leu713Pro)
|
rs748734282
|
0.00004
|
NM_006302.3(MOGS):c.330C>G (p.Arg110=)
|
rs753435188
|
0.00004
|
NM_006302.3(MOGS):c.456C>G (p.Asp152Glu)
|
rs201772113
|
0.00004
|
NM_006302.3(MOGS):c.476A>T (p.Gln159Leu)
|
rs776263791
|
0.00004
|
NM_006302.3(MOGS):c.62G>A (p.Arg21Lys)
|
rs755120968
|
0.00004
|
NM_006302.3(MOGS):c.882del (p.Glu295fs)
|
rs765427546
|
0.00004
|
NM_006348.5(COG5):c.-4C>T
|
rs1371412798
|
0.00004
|
NM_006348.5(COG5):c.102T>C (p.Tyr34=)
|
rs777099343
|
0.00004
|
NM_006348.5(COG5):c.1198A>G (p.Ser400Gly)
|
rs372144586
|
0.00004
|
NM_006348.5(COG5):c.1238C>T (p.Thr413Ile)
|
rs147389453
|
0.00004
|
NM_006348.5(COG5):c.1303C>T (p.Pro435Ser)
|
rs759734221
|
0.00004
|
NM_006348.5(COG5):c.1343A>G (p.Gln448Arg)
|
rs762315475
|
0.00004
|
NM_006348.5(COG5):c.1415C>T (p.Pro472Leu)
|
rs143591444
|
0.00004
|
NM_006348.5(COG5):c.141T>C (p.Tyr47=)
|
rs766371051
|
0.00004
|
NM_006348.5(COG5):c.1842A>C (p.Glu614Asp)
|
rs772330572
|
0.00004
|
NM_006348.5(COG5):c.2272G>A (p.Ala758Thr)
|
rs370066143
|
0.00004
|
NM_006348.5(COG5):c.613C>T (p.Arg205Ter)
|
rs370851836
|
0.00004
|
NM_006348.5(COG5):c.684C>T (p.Val228=)
|
rs773862978
|
0.00004
|
NM_006348.5(COG5):c.907A>G (p.Met303Val)
|
rs1001137054
|
0.00004
|
NM_006348.5(COG5):c.948+5A>G
|
rs776326738
|
0.00004
|
NM_006416.5(SLC35A1):c.1007G>A (p.Gly336Asp)
|
rs200065902
|
0.00004
|
NM_015386.3(COG4):c.1128C>A (p.Phe376Leu)
|
rs768897804
|
0.00004
|
NM_015386.3(COG4):c.1481+12T>C
|
rs765239084
|
0.00004
|
NM_015386.3(COG4):c.151G>C (p.Glu51Gln)
|
rs201370408
|
0.00004
|
NM_015386.3(COG4):c.1605A>C (p.Thr535=)
|
rs751237267
|
0.00004
|
NM_015386.3(COG4):c.1711-10T>C
|
rs375556502
|
0.00004
|
NM_015386.3(COG4):c.1838C>T (p.Thr613Met)
|
rs755376017
|
0.00004
|
NM_015386.3(COG4):c.1839G>A (p.Thr613=)
|
rs565871794
|
0.00004
|
NM_015386.3(COG4):c.2041G>A (p.Gly681Ser)
|
rs547599836
|
0.00004
|
NM_018389.5(SLC35C1):c.*1156C>T
|
rs886048319
|
0.00004
|
NM_018389.5(SLC35C1):c.*1373G>C
|
rs886048320
|
0.00004
|
NM_018389.5(SLC35C1):c.*244G>A
|
rs886048316
|
0.00004
|
NM_018389.5(SLC35C1):c.1081G>A (p.Ala361Thr)
|
rs371853940
|
0.00004
|
NM_018389.5(SLC35C1):c.153C>G (p.Thr51=)
|
rs773263009
|
0.00004
|
NM_018389.5(SLC35C1):c.407A>G (p.Lys136Arg)
|
rs766282342
|
0.00004
|
NM_018389.5(SLC35C1):c.645C>T (p.Tyr215=)
|
rs200626011
|
0.00004
|
NM_018389.5(SLC35C1):c.754C>G (p.Leu252Val)
|
rs765414779
|
0.00004
|
NM_018389.5(SLC35C1):c.820G>A (p.Gly274Ser)
|
rs759064697
|
0.00004
|
NM_018389.5(SLC35C1):c.858G>A (p.Leu286=)
|
rs769671439
|
0.00004
|
NM_018389.5(SLC35C1):c.934G>A (p.Val312Met)
|
rs768749954
|
0.00004
|
NM_018475.5(TMEM165):c.199C>T (p.Arg67Trp)
|
rs768223101
|
0.00004
|
NM_018475.5(TMEM165):c.653C>T (p.Thr218Met)
|
rs147314282
|
0.00004
|
NM_018475.5(TMEM165):c.793-13C>T
|
rs531975275
|
0.00004
|
NM_018714.3(COG1):c.1071-15A>G
|
rs373571014
|
0.00004
|
NM_018714.3(COG1):c.1157T>C (p.Met386Thr)
|
rs200459268
|
0.00004
|
NM_018714.3(COG1):c.1757G>A (p.Arg586Gln)
|
rs769310036
|
0.00004
|
NM_018714.3(COG1):c.2074-3C>G
|
rs372888977
|
0.00004
|
NM_018714.3(COG1):c.2220+18G>C
|
rs1267855413
|
0.00004
|
NM_018714.3(COG1):c.2781C>T (p.Thr927=)
|
rs567297928
|
0.00004
|
NM_018714.3(COG1):c.2836G>A (p.Asp946Asn)
|
rs139440017
|
0.00004
|
NM_018714.3(COG1):c.2929A>G (p.Ser977Gly)
|
rs757086937
|
0.00004
|
NM_018714.3(COG1):c.34C>T (p.Arg12Trp)
|
rs201263432
|
0.00004
|
NM_018714.3(COG1):c.427G>A (p.Ala143Thr)
|
rs747933899
|
0.00004
|
NM_018714.3(COG1):c.655G>C (p.Glu219Gln)
|
rs201963725
|
0.00004
|
NM_020751.3(COG6):c.1738G>A (p.Ala580Thr)
|
rs773262760
|
0.00004
|
NM_020751.3(COG6):c.336C>T (p.Ser112=)
|
rs111943857
|
0.00004
|
NM_020751.3(COG6):c.369+4T>C
|
rs963188886
|
0.00004
|
NM_020751.3(COG6):c.511C>T (p.Arg171Ter)
|
rs200177031
|
0.00004
|
NM_020751.3(COG6):c.556C>A (p.Leu186Met)
|
rs781524524
|
0.00004
|
NM_020751.3(COG6):c.917+4T>C
|
rs540600821
|
0.00004
|
NM_020751.3(COG6):c.939T>C (p.Ala313=)
|
rs550755756
|
0.00004
|
NM_032357.4(CCDC115):c.92T>C (p.Leu31Ser)
|
rs751325113
|
0.00004
|
NM_032382.5(COG8):c.1128C>G (p.Ile376Met)
|
rs772243923
|
0.00004
|
NM_032382.5(COG8):c.894A>C (p.Pro298=)
|
rs767660926
|
0.00004
|
NM_153603.4(COG7):c.1137+9G>A
|
rs746762111
|
0.00004
|
NM_153603.4(COG7):c.1293-6C>T
|
rs770617869
|
0.00004
|
NM_153603.4(COG7):c.1388C>T (p.Thr463Met)
|
rs764153683
|
0.00004
|
NM_153603.4(COG7):c.1529T>C (p.Leu510Pro)
|
rs202221877
|
0.00004
|
NM_153603.4(COG7):c.1577A>G (p.Lys526Arg)
|
rs376579040
|
0.00004
|
NM_153603.4(COG7):c.1834C>T (p.Leu612Phe)
|
rs756688485
|
0.00004
|
NM_153603.4(COG7):c.386A>G (p.Asp129Gly)
|
rs150979217
|
0.00004
|
NM_153603.4(COG7):c.687+16C>T
|
rs373095194
|
0.00004
|
NM_153603.4(COG7):c.687+7A>C
|
rs199964250
|
0.00004
|
NM_153603.4(COG7):c.69C>T (p.Ala23=)
|
rs369785066
|
0.00004
|
NM_153603.4(COG7):c.963C>T (p.Thr321=)
|
rs762510375
|
0.00004
|
NM_001135146.2(SLC39A8):c.1283C>T (p.Thr428Ile)
|
rs142863074
|
0.00003
|
NM_001164277.2(SLC37A4):c.515C>T (p.Ser172Phe)
|
rs750732128
|
0.00003
|
NM_001164277.2(SLC37A4):c.544C>T (p.Leu182Phe)
|
rs775311483
|
0.00003
|
NM_001164277.2(SLC37A4):c.590G>A (p.Arg197His)
|
rs377180238
|
0.00003
|
NM_002408.3(MGAT2):c.-495C>T
|
rs574423436
|
0.00003
|
NM_002408.4(MGAT2):c.*791G>A
|
rs557292347
|
0.00003
|
NM_002408.4(MGAT2):c.-161C>G
|
rs886050517
|
0.00003
|
NM_005660.3(SLC35A2):c.1015A>G (p.Ser339Gly)
|
rs782789576
|
0.00003
|
NM_005660.3(SLC35A2):c.429G>A (p.Val143=)
|
rs782086267
|
0.00003
|
NM_005660.3(SLC35A2):c.852G>T (p.Leu284=)
|
rs782161189
|
0.00003
|
NM_005660.3(SLC35A2):c.941G>A (p.Arg314His)
|
rs920606773
|
0.00003
|
NM_006302.3(MOGS):c.1201G>A (p.Gly401Arg)
|
rs760835807
|
0.00003
|
NM_006302.3(MOGS):c.144C>A (p.Val48=)
|
rs746881433
|
0.00003
|
NM_006302.3(MOGS):c.1494G>A (p.Val498=)
|
rs778742728
|
0.00003
|
NM_006302.3(MOGS):c.1605A>G (p.Arg535=)
|
rs758625152
|
0.00003
|
NM_006302.3(MOGS):c.2112C>T (p.Pro704=)
|
rs561758565
|
0.00003
|
NM_006302.3(MOGS):c.2243C>A (p.Pro748His)
|
rs369937053
|
0.00003
|
NM_006302.3(MOGS):c.2345A>G (p.Lys782Arg)
|
rs775094626
|
0.00003
|
NM_006302.3(MOGS):c.2363G>A (p.Arg788His)
|
rs199724485
|
0.00003
|
NM_006302.3(MOGS):c.2470G>A (p.Gly824Ser)
|
rs778216818
|
0.00003
|
NM_006302.3(MOGS):c.342C>A (p.Pro114=)
|
rs773049219
|
0.00003
|
NM_006302.3(MOGS):c.436T>G (p.Tyr146Asp)
|
rs576166441
|
0.00003
|
NM_006302.3(MOGS):c.65C>A (p.Ala22Glu)
|
rs753961807
|
0.00003
|
NM_006302.3(MOGS):c.721C>T (p.Arg241Cys)
|
rs745844848
|
0.00003
|
NM_006302.3(MOGS):c.777-6T>G
|
rs538030628
|
0.00003
|
NM_006348.5(COG5):c.*617A>C
|
rs894757078
|
0.00003
|
NM_006348.5(COG5):c.1112C>T (p.Ser371Leu)
|
rs776804916
|
0.00003
|
NM_006348.5(COG5):c.1183C>T (p.Arg395Cys)
|
rs376754542
|
0.00003
|
NM_006348.5(COG5):c.159T>C (p.His53=)
|
rs368148545
|
0.00003
|
NM_006348.5(COG5):c.1657T>C (p.Leu553=)
|
rs1016865948
|
0.00003
|
NM_006348.5(COG5):c.1750-11T>C
|
rs368740481
|
0.00003
|
NM_006348.5(COG5):c.184G>A (p.Ala62Thr)
|
rs375537266
|
0.00003
|
NM_006348.5(COG5):c.1853+8C>A
|
rs774900756
|
0.00003
|
NM_006348.5(COG5):c.1956T>C (p.Phe652=)
|
rs1358993369
|
0.00003
|
NM_006348.5(COG5):c.2092A>G (p.Met698Val)
|
rs749445329
|
0.00003
|
NM_006348.5(COG5):c.2433A>C (p.Ala811=)
|
rs775853693
|
0.00003
|
NM_006348.5(COG5):c.390C>T (p.Ala130=)
|
rs575783486
|
0.00003
|
NM_006348.5(COG5):c.538+8T>G
|
rs1018824602
|
0.00003
|
NM_006348.5(COG5):c.614G>A (p.Arg205Gln)
|
rs368331483
|
0.00003
|
NM_006348.5(COG5):c.733A>G (p.Ile245Val)
|
rs533220570
|
0.00003
|
NM_007357.3(COG2):c.1709A>G (p.Lys570Arg)
|
rs752620342
|
0.00003
|
NM_007357.3(COG2):c.73-19C>T
|
rs376755531
|
0.00003
|
NM_015386.3(COG4):c.123A>G (p.Thr41=)
|
rs770026002
|
0.00003
|
NM_015386.3(COG4):c.1314+14C>T
|
rs189538469
|
0.00003
|
NM_015386.3(COG4):c.1632G>A (p.Ala544=)
|
rs771255200
|
0.00003
|
NM_015386.3(COG4):c.2278T>C (p.Leu760=)
|
rs113010015
|
0.00003
|
NM_018389.5(SLC35C1):c.*1031G>A
|
rs1476944695
|
0.00003
|
NM_018389.5(SLC35C1):c.*1229C>T
|
rs938496129
|
0.00003
|
NM_018389.5(SLC35C1):c.*528G>A
|
rs886048317
|
0.00003
|
NM_018389.5(SLC35C1):c.*650C>A
|
rs780018107
|
0.00003
|
NM_018389.5(SLC35C1):c.-518C>A
|
rs886048309
|
0.00003
|
NM_018389.5(SLC35C1):c.1046C>T (p.Pro349Leu)
|
rs777594884
|
0.00003
|
NM_018389.5(SLC35C1):c.151A>G (p.Thr51Ala)
|
rs769916550
|
0.00003
|
NM_018389.5(SLC35C1):c.633C>G (p.Leu211=)
|
rs372353822
|
0.00003
|
NM_018389.5(SLC35C1):c.650C>T (p.Thr217Met)
|
rs764909821
|
0.00003
|
NM_018389.5(SLC35C1):c.673G>A (p.Gly225Ser)
|
rs757393960
|
0.00003
|
NM_018389.5(SLC35C1):c.711C>T (p.Asn237=)
|
rs777163801
|
0.00003
|
NM_018389.5(SLC35C1):c.742C>T (p.Leu248=)
|
rs774081262
|
0.00003
|
NM_018389.5(SLC35C1):c.766C>T (p.Arg256Cys)
|
rs374599500
|
0.00003
|
NM_018389.5(SLC35C1):c.939C>T (p.Leu313=)
|
rs776684184
|
0.00003
|
NM_018475.5(TMEM165):c.506T>C (p.Ile169Thr)
|
rs150519910
|
0.00003
|
NM_018475.5(TMEM165):c.792+182G>A
|
rs793888506
|
0.00003
|
NM_018475.5(TMEM165):c.793-12G>A
|
rs372776107
|
0.00003
|
NM_018714.3(COG1):c.1035A>G (p.Glu345=)
|
rs199576608
|
0.00003
|
NM_018714.3(COG1):c.2617T>G (p.Ser873Ala)
|
rs139330442
|
0.00003
|
NM_018714.3(COG1):c.2790C>T (p.Ile930=)
|
rs770966526
|
0.00003
|
NM_018714.3(COG1):c.47G>T (p.Arg16Leu)
|
rs527295185
|
0.00003
|
NM_018714.3(COG1):c.87G>C (p.Glu29Asp)
|
rs375609831
|
0.00003
|
NM_018714.3(COG1):c.9C>T (p.Thr3=)
|
rs139516400
|
0.00003
|
NM_020751.3(COG6):c.1535T>G (p.Leu512Ter)
|
rs1292534396
|
0.00003
|
NM_020751.3(COG6):c.1961C>T (p.Thr654Met)
|
rs747232819
|
0.00003
|
NM_020751.3(COG6):c.69G>A (p.Gly23=)
|
rs372786424
|
0.00003
|
NM_025191.4(EDEM3):c.182A>G (p.Asp61Gly)
|
rs777353823
|
0.00003
|
NM_032382.5(COG8):c.14C>T (p.Ala5Val)
|
rs1247252789
|
0.00003
|
NM_032382.5(COG8):c.151C>T (p.Arg51Trp)
|
rs1057521994
|
0.00003
|
NM_032382.5(COG8):c.380A>G (p.Asn127Ser)
|
rs753893688
|
0.00003
|
NM_153603.4(COG7):c.1167G>A (p.Gln389=)
|
rs201313774
|
0.00003
|
NM_153603.4(COG7):c.119T>A (p.Leu40Gln)
|
rs775575683
|
0.00003
|
NM_153603.4(COG7):c.1292+17G>A
|
rs770550607
|
0.00003
|
NM_153603.4(COG7):c.1409+8G>A
|
rs776496345
|
0.00003
|
NM_153603.4(COG7):c.1410-6G>C
|
rs369925503
|
0.00003
|
NM_153603.4(COG7):c.1629T>C (p.Tyr543=)
|
rs760342154
|
0.00003
|
NM_153603.4(COG7):c.1803C>T (p.Asp601=)
|
rs1039295104
|
0.00003
|
NM_153603.4(COG7):c.1804-13G>A
|
rs759680428
|
0.00003
|
NM_153603.4(COG7):c.1914C>T (p.Pro638=)
|
rs111414595
|
0.00003
|
NM_153603.4(COG7):c.2068A>G (p.Met690Val)
|
rs141629916
|
0.00003
|
NM_153603.4(COG7):c.2266C>T (p.Arg756Cys)
|
rs199984825
|
0.00003
|
NM_153603.4(COG7):c.2296C>T (p.Arg766Trp)
|
rs112011340
|
0.00003
|
NM_153603.4(COG7):c.828C>T (p.His276=)
|
rs745431635
|
0.00003
|
NM_153603.4(COG7):c.838A>G (p.Met280Val)
|
rs778121380
|
0.00003
|
NM_001135146.2(SLC39A8):c.112G>C (p.Gly38Arg)
|
rs778210210
|
0.00002
|
NM_001164277.2(SLC37A4):c.1129G>A (p.Gly377Ser)
|
rs782255299
|
0.00002
|
NM_001164277.2(SLC37A4):c.1175G>A (p.Ser392Asn)
|
rs1035199340
|
0.00002
|
NM_001164277.2(SLC37A4):c.944T>C (p.Met315Thr)
|
rs781834870
|
0.00002
|
NM_001164277.2(SLC37A4):c.955C>T (p.Arg319Trp)
|
rs376730573
|
0.00002
|
NM_001497.4(B4GALT1):c.61C>T (p.Arg21Trp)
|
rs1065764
|
0.00002
|
NM_001497.4(B4GALT1):c.811G>A (p.Val271Ile)
|
rs750802296
|
0.00002
|
NM_002408.4(MGAT2):c.153C>T (p.Gly51=)
|
rs754480382
|
0.00002
|
NM_002408.4(MGAT2):c.275G>T (p.Arg92Leu)
|
rs767110185
|
0.00002
|
NM_005660.3(SLC35A2):c.1099C>A (p.Gln367Lys)
|
rs1452748811
|
0.00002
|
NM_005660.3(SLC35A2):c.1112C>T (p.Pro371Leu)
|
rs782673464
|
0.00002
|
NM_005660.3(SLC35A2):c.1129C>T (p.Arg377Cys)
|
rs782483874
|
0.00002
|
NM_005660.3(SLC35A2):c.1146G>A (p.Thr382=)
|
rs782707859
|
0.00002
|
NM_005660.3(SLC35A2):c.279C>T (p.Asn93=)
|
rs782206039
|
0.00002
|
NM_005660.3(SLC35A2):c.339C>G (p.Leu113=)
|
rs782701176
|
0.00002
|
NM_005660.3(SLC35A2):c.345C>T (p.Leu115=)
|
rs782476110
|
0.00002
|
NM_005660.3(SLC35A2):c.485G>A (p.Arg162His)
|
rs782305321
|
0.00002
|
NM_005660.3(SLC35A2):c.497G>A (p.Arg166Gln)
|
rs374840868
|
0.00002
|
NM_005660.3(SLC35A2):c.562G>A (p.Gly188Ser)
|
rs1023107993
|
0.00002
|
NM_005660.3(SLC35A2):c.56C>T (p.Ser19Phe)
|
rs781945687
|
0.00002
|
NM_005660.3(SLC35A2):c.810T>C (p.Ala270=)
|
rs782704484
|
0.00002
|
NM_005660.3(SLC35A2):c.873C>T (p.Tyr291=)
|
rs781917175
|
0.00002
|
NM_006302.3(MOGS):c.1061G>A (p.Gly354Asp)
|
rs200348131
|
0.00002
|
NM_006302.3(MOGS):c.1072A>T (p.Thr358Ser)
|
rs371692461
|
0.00002
|
NM_006302.3(MOGS):c.1143G>A (p.Lys381=)
|
rs748611986
|
0.00002
|
NM_006302.3(MOGS):c.1164G>A (p.Gln388=)
|
rs781096789
|
0.00002
|
NM_006302.3(MOGS):c.1218C>T (p.Tyr406=)
|
rs951050772
|
0.00002
|
NM_006302.3(MOGS):c.132G>A (p.Val44=)
|
rs952716488
|
0.00002
|
NM_006302.3(MOGS):c.1382G>A (p.Arg461Gln)
|
rs200061009
|
0.00002
|
NM_006302.3(MOGS):c.1466T>C (p.Ile489Thr)
|
rs760160297
|
0.00002
|
NM_006302.3(MOGS):c.1483C>T (p.Arg495Ter)
|
rs746601093
|
0.00002
|
NM_006302.3(MOGS):c.1490G>A (p.Arg497Gln)
|
rs772550239
|
0.00002
|
NM_006302.3(MOGS):c.206G>A (p.Arg69Gln)
|
rs374933674
|
0.00002
|
NM_006302.3(MOGS):c.2152G>A (p.Asp718Asn)
|
rs747152213
|
0.00002
|
NM_006302.3(MOGS):c.2166C>G (p.Leu722=)
|
rs377226071
|
0.00002
|
NM_006302.3(MOGS):c.2362C>T (p.Arg788Cys)
|
rs374527950
|
0.00002
|
NM_006302.3(MOGS):c.2370C>T (p.Asn790=)
|
rs575627551
|
0.00002
|
NM_006302.3(MOGS):c.2444G>A (p.Arg815Gln)
|
rs778832533
|
0.00002
|
NM_006302.3(MOGS):c.352+19G>A
|
rs745946630
|
0.00002
|
NM_006302.3(MOGS):c.378C>T (p.Thr126=)
|
rs772425071
|
0.00002
|
NM_006302.3(MOGS):c.407C>T (p.Thr136Met)
|
rs1287495585
|
0.00002
|
NM_006302.3(MOGS):c.418G>C (p.Gly140Arg)
|
rs760685740
|
0.00002
|
NM_006302.3(MOGS):c.549C>T (p.Asp183=)
|
rs770186539
|
0.00002
|
NM_006302.3(MOGS):c.57C>G (p.Ala19=)
|
rs398124221
|
0.00002
|
NM_006302.3(MOGS):c.646del (p.Val216fs)
|
rs777654978
|
0.00002
|
NM_006302.3(MOGS):c.901C>T (p.Pro301Ser)
|
rs1390934890
|
0.00002
|
NM_006302.3(MOGS):c.94G>A (p.Gly32Ser)
|
rs774950414
|
0.00002
|
NM_006302.3(MOGS):c.98G>T (p.Arg33Leu)
|
rs934016068
|
0.00002
|
NM_006348.5(COG5):c.*162T>C
|
rs1000375620
|
0.00002
|
NM_006348.5(COG5):c.*247T>C
|
rs886061872
|
0.00002
|
NM_006348.5(COG5):c.*409T>C
|
rs912460078
|
0.00002
|
NM_006348.5(COG5):c.*634T>C
|
rs527645957
|
0.00002
|
NM_006348.5(COG5):c.*867A>G
|
rs1003504113
|
0.00002
|
NM_006348.5(COG5):c.-15C>T
|
rs772850481
|
0.00002
|
NM_006348.5(COG5):c.1026+4T>C
|
rs748372051
|
0.00002
|
NM_006348.5(COG5):c.1027-5C>T
|
rs767208462
|
0.00002
|
NM_006348.5(COG5):c.1096A>G (p.Met366Val)
|
rs768962367
|
0.00002
|
NM_006348.5(COG5):c.1177T>C (p.Trp393Arg)
|
rs780609950
|
0.00002
|
NM_006348.5(COG5):c.154A>G (p.Ile52Val)
|
rs776828196
|
0.00002
|
NM_006348.5(COG5):c.1766T>C (p.Met589Thr)
|
rs777200785
|
0.00002
|
NM_006348.5(COG5):c.1845C>T (p.Asp615=)
|
rs746373863
|
0.00002
|
NM_006348.5(COG5):c.1882G>A (p.Val628Ile)
|
rs541139830
|
0.00002
|
NM_006348.5(COG5):c.1906G>A (p.Glu636Lys)
|
rs771961452
|
0.00002
|
NM_006348.5(COG5):c.2009T>C (p.Val670Ala)
|
rs773647928
|
0.00002
|
NM_006348.5(COG5):c.2021T>C (p.Ile674Thr)
|
rs933746900
|
0.00002
|
NM_006348.5(COG5):c.2036T>C (p.Leu679Pro)
|
rs975245291
|
0.00002
|
NM_006348.5(COG5):c.2048T>C (p.Leu683Pro)
|
rs558759709
|
0.00002
|
NM_006348.5(COG5):c.2122C>T (p.Arg708Ter)
|
rs762675426
|
0.00002
|
NM_006348.5(COG5):c.2123G>A (p.Arg708Gln)
|
rs772812050
|
0.00002
|
NM_006348.5(COG5):c.216C>T (p.Asp72=)
|
rs143972347
|
0.00002
|
NM_006348.5(COG5):c.2261C>T (p.Thr754Met)
|
rs760602600
|
0.00002
|
NM_006348.5(COG5):c.2269C>T (p.Pro757Ser)
|
rs148259908
|
0.00002
|
NM_006348.5(COG5):c.2295+18G>C
|
rs748577968
|
0.00002
|
NM_006348.5(COG5):c.2317C>T (p.Arg773Cys)
|
rs767217808
|
0.00002
|
NM_006348.5(COG5):c.2327A>G (p.Gln776Arg)
|
rs149616917
|
0.00002
|
NM_006348.5(COG5):c.2479G>C (p.Ala827Pro)
|
rs747809652
|
0.00002
|
NM_006348.5(COG5):c.268G>A (p.Ala90Thr)
|
rs773864216
|
0.00002
|
NM_006348.5(COG5):c.399A>T (p.Ala133=)
|
rs375237727
|
0.00002
|
NM_006348.5(COG5):c.418-6del
|
rs766142910
|
0.00002
|
NM_006348.5(COG5):c.551A>G (p.Gln184Arg)
|
rs753818358
|
0.00002
|
NM_006348.5(COG5):c.59C>T (p.Ala20Val)
|
rs368239973
|
0.00002
|
NM_006348.5(COG5):c.639G>A (p.Lys213=)
|
rs925413684
|
0.00002
|
NM_006348.5(COG5):c.679C>A (p.Gln227Lys)
|
rs969075609
|
0.00002
|
NM_006348.5(COG5):c.836-4C>A
|
rs1001144225
|
0.00002
|
NM_006348.5(COG5):c.847C>T (p.Arg283Ter)
|
rs548774836
|
0.00002
|
NM_006348.5(COG5):c.961C>A (p.Gln321Lys)
|
rs370028534
|
0.00002
|
NM_006416.5(SLC35A1):c.378G>A (p.Pro126=)
|
rs754174147
|
0.00002
|
NM_006416.5(SLC35A1):c.400T>C (p.Leu134=)
|
rs866423704
|
0.00002
|
NM_007357.3(COG2):c.1825G>A (p.Asp609Asn)
|
rs542540708
|
0.00002
|
NM_015386.3(COG4):c.1072C>A (p.Pro358Thr)
|
rs573621071
|
0.00002
|
NM_015386.3(COG4):c.1309A>G (p.Asn437Asp)
|
rs370589898
|
0.00002
|
NM_015386.3(COG4):c.1647+20C>T
|
rs745843280
|
0.00002
|
NM_015386.3(COG4):c.1900G>A (p.Val634Ile)
|
rs772560552
|
0.00002
|
NM_015386.3(COG4):c.751G>A (p.Ala251Thr)
|
rs771178085
|
0.00002
|
NM_015386.3(COG4):c.811A>G (p.Ile271Val)
|
rs551058375
|
0.00002
|
NM_015949.3(GET4):c.365G>A (p.Arg122His)
|
rs1268790820
|
0.00002
|
NM_018389.5(SLC35C1):c.*561C>T
|
rs934108329
|
0.00002
|
NM_018389.5(SLC35C1):c.-218G>C
|
rs564660234
|
0.00002
|
NM_018389.5(SLC35C1):c.-481G>A
|
rs886048310
|
0.00002
|
NM_018389.5(SLC35C1):c.1018G>A (p.Val340Ile)
|
rs776527276
|
0.00002
|
NM_018389.5(SLC35C1):c.51C>T (p.Thr17=)
|
rs768517924
|
0.00002
|
NM_018389.5(SLC35C1):c.636C>T (p.Asn212=)
|
rs549069990
|
0.00002
|
NM_018389.5(SLC35C1):c.819C>T (p.Gly273=)
|
rs774033676
|
0.00002
|
NM_018475.5(TMEM165):c.*643A>G
|
rs1043302976
|
0.00002
|
NM_018475.5(TMEM165):c.731C>T (p.Thr244Ile)
|
rs371595670
|
0.00002
|
NM_018714.3(COG1):c.1152C>T (p.Asp384=)
|
rs777144980
|
0.00002
|
NM_018714.3(COG1):c.126G>A (p.Glu42=)
|
rs944279563
|
0.00002
|
NM_018714.3(COG1):c.1367C>G (p.Thr456Ser)
|
rs140675600
|
0.00002
|
NM_018714.3(COG1):c.1784G>T (p.Gly595Val)
|
rs752197597
|
0.00002
|
NM_018714.3(COG1):c.1890G>A (p.Gln630=)
|
rs146046236
|
0.00002
|
NM_018714.3(COG1):c.2514T>C (p.Ile838=)
|
rs917892922
|
0.00002
|
NM_018714.3(COG1):c.2665C>T (p.Arg889Trp)
|
rs144316008
|
0.00002
|
NM_018714.3(COG1):c.2841G>A (p.Pro947=)
|
rs777590708
|
0.00002
|
NM_018714.3(COG1):c.2891C>T (p.Thr964Met)
|
rs767105962
|
0.00002
|
NM_018714.3(COG1):c.394T>C (p.Trp132Arg)
|
rs569882797
|
0.00002
|
NM_018714.3(COG1):c.984C>T (p.Ile328=)
|
rs756930348
|
0.00002
|
NM_020751.3(COG6):c.119A>G (p.His40Arg)
|
rs148246113
|
0.00002
|
NM_020751.3(COG6):c.134C>T (p.Thr45Met)
|
rs545371712
|
0.00002
|
NM_020751.3(COG6):c.1368C>T (p.His456=)
|
rs550615578
|
0.00002
|
NM_020751.3(COG6):c.1484C>G (p.Ala495Gly)
|
rs746119230
|
0.00002
|
NM_020751.3(COG6):c.1558A>C (p.Arg520=)
|
rs760219472
|
0.00002
|
NM_020751.3(COG6):c.1892dup (p.Met632fs)
|
rs1486717174
|
0.00002
|
NM_020751.3(COG6):c.783A>T (p.Leu261Phe)
|
rs199694513
|
0.00002
|
NM_020751.3(COG6):c.95G>T (p.Cys32Phe)
|
rs576575818
|
0.00002
|
NM_032382.5(COG8):c.1018G>A (p.Gly340Ser)
|
rs780027868
|
0.00002
|
NM_032382.5(COG8):c.1259C>T (p.Pro420Leu)
|
rs746290111
|
0.00002
|
NM_032382.5(COG8):c.1398A>G (p.Glu466=)
|
rs369610000
|
0.00002
|
NM_032382.5(COG8):c.1443C>T (p.Arg481=)
|
rs113368039
|
0.00002
|
NM_032382.5(COG8):c.1473G>A (p.Glu491=)
|
rs752727817
|
0.00002
|
NM_032382.5(COG8):c.309G>C (p.Leu103=)
|
rs574310735
|
0.00002
|
NM_032382.5(COG8):c.673T>G (p.Cys225Gly)
|
rs761059594
|
0.00002
|
NM_032382.5(COG8):c.747G>A (p.Gln249=)
|
rs774789065
|
0.00002
|
NM_153603.4(COG7):c.1405A>G (p.Ile469Val)
|
rs751036976
|
0.00002
|
NM_153603.4(COG7):c.1445G>A (p.Cys482Tyr)
|
rs376426601
|
0.00002
|
NM_153603.4(COG7):c.1482G>T (p.Leu494Phe)
|
rs376358218
|
0.00002
|
NM_153603.4(COG7):c.173C>G (p.Thr58Arg)
|
rs866875812
|
0.00002
|
NM_153603.4(COG7):c.2267G>A (p.Arg756His)
|
rs765513149
|
0.00002
|
NM_153603.4(COG7):c.319-11G>A
|
rs374601516
|
0.00002
|
NM_153603.4(COG7):c.605-17C>T
|
rs376920945
|
0.00002
|
NM_153603.4(COG7):c.753C>T (p.Thr251=)
|
rs775575688
|
0.00002
|
NM_153603.4(COG7):c.829G>A (p.Glu277Lys)
|
rs757810496
|
0.00002
|
NM_153603.4(COG7):c.906G>A (p.Val302=)
|
rs781240758
|
0.00002
|
NC_000007.14:g.107563941G>A
|
rs1445399193
|
0.00001
|
NC_000007.14:g.107563947G>A
|
rs765560840
|
0.00001
|
NM_001098832.2(VCF1):c.*1037G>A
|
rs369768700
|
0.00001
|
NM_001135146.2(SLC39A8):c.500G>C (p.Gly167Ala)
|
rs1262995015
|
0.00001
|
NM_001135146.2(SLC39A8):c.965T>C (p.Ile322Thr)
|
rs755786784
|
0.00001
|
NM_001164277.2(SLC37A4):c.1214C>T (p.Ala405Val)
|
rs782753044
|
0.00001
|
NM_001164277.2(SLC37A4):c.1215G>A (p.Ala405=)
|
rs1043721709
|
0.00001
|
NM_001164277.2(SLC37A4):c.149-3C>T
|
rs782625122
|
0.00001
|
NM_001164277.2(SLC37A4):c.264C>T (p.Gly88=)
|
rs782292086
|
0.00001
|
NM_001164277.2(SLC37A4):c.376C>T (p.Arg126Trp)
|
rs946341075
|
0.00001
|
NM_001164277.2(SLC37A4):c.433A>G (p.Met145Val)
|
rs863224210
|
0.00001
|
NM_001164277.2(SLC37A4):c.448G>A (p.Gly150Arg)
|
rs193302883
|
0.00001
|
NM_001164277.2(SLC37A4):c.503C>T (p.Thr168Met)
|
rs754982680
|
0.00001
|
NM_001164277.2(SLC37A4):c.59G>A (p.Gly20Asp)
|
rs193302881
|
0.00001
|
NM_001164277.2(SLC37A4):c.761A>G (p.Glu254Gly)
|
rs781834348
|
0.00001
|
NM_001164277.2(SLC37A4):c.82C>T (p.Arg28Cys)
|
rs193302882
|
0.00001
|
NM_001164277.2(SLC37A4):c.83G>A (p.Arg28His)
|
rs121908978
|
0.00001
|
NM_001164277.2(SLC37A4):c.888C>T (p.Tyr296=)
|
rs782326705
|
0.00001
|
NM_002408.4(MGAT2):c.*579C>T
|
rs548966102
|
0.00001
|
NM_002408.4(MGAT2):c.*821C>T
|
rs920154273
|
0.00001
|
NM_002408.4(MGAT2):c.-125C>G
|
rs1370678519
|
0.00001
|
NM_002408.4(MGAT2):c.1120C>T (p.His374Tyr)
|
rs776531113
|
0.00001
|
NM_002408.4(MGAT2):c.206A>G (p.Asn69Ser)
|
rs376612891
|
0.00001
|
NM_002408.4(MGAT2):c.233C>T (p.Ala78Val)
|
rs749248027
|
0.00001
|
NM_002408.4(MGAT2):c.544C>G (p.Gln182Glu)
|
rs746339246
|
0.00001
|
NM_002408.4(MGAT2):c.764T>C (p.Ile255Thr)
|
rs147353945
|
0.00001
|
NM_002408.4(MGAT2):c.862G>A (p.Val288Ile)
|
rs1455410429
|
0.00001
|
NM_002408.4(MGAT2):c.91C>T (p.Gln31Ter)
|
rs1310787426
|
0.00001
|
NM_002408.4(MGAT2):c.971C>G (p.Thr324Ser)
|
rs78391102
|
0.00001
|
NM_005660.3(SLC35A2):c.1014C>T (p.Tyr338=)
|
rs1294919588
|
0.00001
|
NM_005660.3(SLC35A2):c.1025G>A (p.Arg342Gln)
|
rs781897678
|
0.00001
|
NM_005660.3(SLC35A2):c.102C>T (p.Arg34=)
|
rs977233420
|
0.00001
|
NM_005660.3(SLC35A2):c.1077C>T (p.Cys359=)
|
rs1557042672
|
0.00001
|
NM_005660.3(SLC35A2):c.1105C>T (p.Pro369Ser)
|
rs2063475090
|
0.00001
|
NM_005660.3(SLC35A2):c.1110A>G (p.Pro370=)
|
rs782273947
|
0.00001
|
NM_005660.3(SLC35A2):c.176C>T (p.Thr59Met)
|
rs782218448
|
0.00001
|
NM_005660.3(SLC35A2):c.216C>T (p.Val72=)
|
rs2063519058
|
0.00001
|
NM_005660.3(SLC35A2):c.252G>A (p.Leu84=)
|
rs1557043621
|
0.00001
|
NM_005660.3(SLC35A2):c.253C>T (p.Leu85=)
|
rs782113844
|
0.00001
|
NM_005660.3(SLC35A2):c.261C>T (p.Phe87=)
|
rs1557043617
|
0.00001
|
NM_005660.3(SLC35A2):c.263C>T (p.Ala88Val)
|
rs375442287
|
0.00001
|
NM_005660.3(SLC35A2):c.274+5G>A
|
rs1060503677
|
0.00001
|
NM_005660.3(SLC35A2):c.275-17C>T
|
rs1557043157
|
0.00001
|
NM_005660.3(SLC35A2):c.324G>A (p.Gln108=)
|
rs782548748
|
0.00001
|
NM_005660.3(SLC35A2):c.426+17G>A
|
rs1336898157
|
0.00001
|
NM_005660.3(SLC35A2):c.496C>T (p.Arg166Trp)
|
rs782340868
|
0.00001
|
NM_005660.3(SLC35A2):c.616G>A (p.Val206Ile)
|
rs1557042878
|
0.00001
|
NM_005660.3(SLC35A2):c.691G>A (p.Val231Met)
|
rs939923485
|
0.00001
|
NM_005660.3(SLC35A2):c.723C>T (p.Phe241=)
|
rs781951327
|
0.00001
|
NM_005660.3(SLC35A2):c.768C>T (p.Thr256=)
|
rs371036534
|
0.00001
|
NM_005660.3(SLC35A2):c.818G>C (p.Gly273Ala)
|
rs1557042798
|
0.00001
|
NM_005660.3(SLC35A2):c.819C>T (p.Gly273=)
|
rs1271812540
|
0.00001
|
NM_005660.3(SLC35A2):c.820G>A (p.Val274Met)
|
rs1340692327
|
0.00001
|
NM_005660.3(SLC35A2):c.826C>T (p.Leu276Phe)
|
rs782737391
|
0.00001
|
NM_005660.3(SLC35A2):c.840C>T (p.Phe280=)
|
rs781996492
|
0.00001
|
NM_005660.3(SLC35A2):c.92-6C>T
|
rs2063520315
|
0.00001
|
NM_005660.3(SLC35A2):c.92-7C>G
|
rs1557043678
|
0.00001
|
NM_005660.3(SLC35A2):c.93T>C (p.Ala31=)
|
rs1569511600
|
0.00001
|
NM_005660.3(SLC35A2):c.957C>T (p.His319=)
|
rs782675945
|
0.00001
|
NM_005660.3(SLC35A2):c.966A>G (p.Pro322=)
|
rs373788556
|
0.00001
|
NM_005660.3(SLC35A2):c.981C>T (p.Gly327=)
|
rs782603817
|
0.00001
|
NM_005660.3(SLC35A2):c.982G>A (p.Ala328Thr)
|
rs782485193
|
0.00001
|
NM_006302.3(MOGS):c.1004T>C (p.Val335Ala)
|
rs769788871
|
0.00001
|
NM_006302.3(MOGS):c.1039C>A (p.Gln347Lys)
|
rs778176484
|
0.00001
|
NM_006302.3(MOGS):c.103G>A (p.Gly35Ser)
|
rs908587926
|
0.00001
|
NM_006302.3(MOGS):c.1112G>A (p.Arg371His)
|
rs771053284
|
0.00001
|
NM_006302.3(MOGS):c.119C>T (p.Thr40Met)
|
rs769430992
|
0.00001
|
NM_006302.3(MOGS):c.1206T>C (p.Ile402=)
|
rs762176743
|
0.00001
|
NM_006302.3(MOGS):c.122C>T (p.Ala41Val)
|
rs910079139
|
0.00001
|
NM_006302.3(MOGS):c.1246G>A (p.Gly416Arg)
|
rs751395514
|
0.00001
|
NM_006302.3(MOGS):c.1322G>A (p.Arg441Gln)
|
rs745360345
|
0.00001
|
NM_006302.3(MOGS):c.1365C>T (p.His455=)
|
rs777381511
|
0.00001
|
NM_006302.3(MOGS):c.1392C>G (p.Pro464=)
|
rs1671943523
|
0.00001
|
NM_006302.3(MOGS):c.1395C>G (p.Ser465=)
|
rs767620981
|
0.00001
|
NM_006302.3(MOGS):c.1461G>C (p.Glu487Asp)
|
rs1240890677
|
0.00001
|
NM_006302.3(MOGS):c.1489C>T (p.Arg497Trp)
|
rs1213805068
|
0.00001
|
NM_006302.3(MOGS):c.1517G>A (p.Arg506Gln)
|
rs757364620
|
0.00001
|
NM_006302.3(MOGS):c.1528G>A (p.Ala510Thr)
|
rs913447572
|
0.00001
|
NM_006302.3(MOGS):c.1529C>G (p.Ala510Gly)
|
rs976305108
|
0.00001
|
NM_006302.3(MOGS):c.1602C>T (p.Leu534=)
|
rs769679854
|
0.00001
|
NM_006302.3(MOGS):c.1625A>G (p.His542Arg)
|
rs754338562
|
0.00001
|
NM_006302.3(MOGS):c.1656G>A (p.Gln552=)
|
rs907067006
|
0.00001
|
NM_006302.3(MOGS):c.1679dup (p.Tyr560Ter)
|
rs1178323891
|
0.00001
|
NM_006302.3(MOGS):c.1688G>A (p.Arg563Gln)
|
rs769741414
|
0.00001
|
NM_006302.3(MOGS):c.1693C>T (p.Arg565Trp)
|
rs745841543
|
0.00001
|
NM_006302.3(MOGS):c.169A>G (p.Met57Val)
|
rs1244494488
|
0.00001
|
NM_006302.3(MOGS):c.1760G>A (p.Arg587Gln)
|
rs750912161
|
0.00001
|
NM_006302.3(MOGS):c.1787G>A (p.Arg596Gln)
|
rs759477236
|
0.00001
|
NM_006302.3(MOGS):c.1862dup (p.Ala621_Glu622insTer)
|
rs1399649784
|
0.00001
|
NM_006302.3(MOGS):c.1892C>T (p.Ala631Val)
|
rs752324076
|
0.00001
|
NM_006302.3(MOGS):c.1915A>C (p.Ser639Arg)
|
rs1197857012
|
0.00001
|
NM_006302.3(MOGS):c.1924G>A (p.Glu642Lys)
|
rs776033415
|
0.00001
|
NM_006302.3(MOGS):c.1928T>G (p.Leu643Arg)
|
rs368038442
|
0.00001
|
NM_006302.3(MOGS):c.1937C>T (p.Ala646Val)
|
rs536613092
|
0.00001
|
NM_006302.3(MOGS):c.1978A>C (p.Lys660Gln)
|
rs1366931512
|
0.00001
|
NM_006302.3(MOGS):c.1981G>A (p.Ala661Thr)
|
rs757907116
|
0.00001
|
NM_006302.3(MOGS):c.2020C>T (p.Arg674Trp)
|
rs760636403
|
0.00001
|
NM_006302.3(MOGS):c.2052G>A (p.Gln684=)
|
rs772623361
|
0.00001
|
NM_006302.3(MOGS):c.2094G>A (p.Leu698=)
|
rs1471150935
|
0.00001
|
NM_006302.3(MOGS):c.20G>A (p.Arg7Gln)
|
rs534041573
|
0.00001
|
NM_006302.3(MOGS):c.210G>A (p.Arg70=)
|
rs1453449528
|
0.00001
|
NM_006302.3(MOGS):c.2127T>C (p.Leu709=)
|
rs1464106473
|
0.00001
|
NM_006302.3(MOGS):c.2151C>T (p.Ala717=)
|
rs930840257
|
0.00001
|
NM_006302.3(MOGS):c.2158C>T (p.Arg720Cys)
|
rs779843206
|
0.00001
|
NM_006302.3(MOGS):c.2175C>T (p.Pro725=)
|
rs757095000
|
0.00001
|
NM_006302.3(MOGS):c.2270A>G (p.Asn757Ser)
|
rs1671903517
|
0.00001
|
NM_006302.3(MOGS):c.2314C>A (p.Leu772Met)
|
rs367975640
|
0.00001
|
NM_006302.3(MOGS):c.2385A>G (p.Val795=)
|
rs1388915216
|
0.00001
|
NM_006302.3(MOGS):c.2386T>C (p.Trp796Arg)
|
rs751932696
|
0.00001
|
NM_006302.3(MOGS):c.2390G>A (p.Arg797His)
|
rs763518275
|
0.00001
|
NM_006302.3(MOGS):c.2436C>T (p.Arg812=)
|
rs771882219
|
0.00001
|
NM_006302.3(MOGS):c.2443C>A (p.Arg815=)
|
rs748007212
|
0.00001
|
NM_006302.3(MOGS):c.2505A>C (p.Glu835Asp)
|
rs760335216
|
0.00001
|
NM_006302.3(MOGS):c.2509T>C (p.Tyr837His)
|
rs3191651
|
0.00001
|
NM_006302.3(MOGS):c.255C>T (p.Ser85=)
|
rs759157587
|
0.00001
|
NM_006302.3(MOGS):c.297C>T (p.Tyr99=)
|
rs375679925
|
0.00001
|
NM_006302.3(MOGS):c.329G>A (p.Arg110His)
|
rs863225089
|
0.00001
|
NM_006302.3(MOGS):c.353-19G>T
|
rs761711765
|
0.00001
|
NM_006302.3(MOGS):c.386G>A (p.Gly129Glu)
|
rs749846238
|
0.00001
|
NM_006302.3(MOGS):c.397C>A (p.Leu133Ile)
|
rs750032065
|
0.00001
|
NM_006302.3(MOGS):c.416A>T (p.Gln139Leu)
|
rs766434425
|
0.00001
|
NM_006302.3(MOGS):c.420G>A (p.Gly140=)
|
rs921306296
|
0.00001
|
NM_006302.3(MOGS):c.423C>T (p.Asp141=)
|
rs773419683
|
0.00001
|
NM_006302.3(MOGS):c.579+6G>A
|
rs1191203458
|
0.00001
|
NM_006302.3(MOGS):c.580-16C>A
|
rs747887190
|
0.00001
|
NM_006302.3(MOGS):c.587G>A (p.Gly196Asp)
|
rs1257661743
|
0.00001
|
NM_006302.3(MOGS):c.702C>G (p.Thr234=)
|
rs1470664693
|
0.00001
|
NM_006302.3(MOGS):c.720C>T (p.Phe240=)
|
rs952540109
|
0.00001
|
NM_006302.3(MOGS):c.722G>A (p.Arg241His)
|
rs1008354442
|
0.00001
|
NM_006302.3(MOGS):c.745A>T (p.Ser249Cys)
|
rs1407300243
|
0.00001
|
NM_006302.3(MOGS):c.776+11G>A
|
rs1220438418
|
0.00001
|
NM_006302.3(MOGS):c.777-17A>G
|
rs778918995
|
0.00001
|
NM_006302.3(MOGS):c.782A>G (p.Asn261Ser)
|
rs750824295
|
0.00001
|
NM_006302.3(MOGS):c.784G>A (p.Val262Ile)
|
rs1468341767
|
0.00001
|
NM_006302.3(MOGS):c.786C>A (p.Val262=)
|
rs762281762
|
0.00001
|
NM_006302.3(MOGS):c.78C>T (p.Gly26=)
|
rs1428639603
|
0.00001
|
NM_006302.3(MOGS):c.810G>A (p.Leu270=)
|
rs1284777296
|
0.00001
|
NM_006302.3(MOGS):c.821C>T (p.Thr274Ile)
|
rs1350968740
|
0.00001
|
NM_006302.3(MOGS):c.838C>T (p.Arg280Cys)
|
rs372551243
|
0.00001
|
NM_006302.3(MOGS):c.840C>T (p.Arg280=)
|
rs779021689
|
0.00001
|
NM_006302.3(MOGS):c.851G>A (p.Trp284Ter)
|
rs749476593
|
0.00001
|
NM_006302.3(MOGS):c.875C>A (p.Ala292Asp)
|
rs762463041
|
0.00001
|
NM_006302.3(MOGS):c.886C>T (p.Arg296Cys)
|
rs752641712
|
0.00001
|
NM_006302.3(MOGS):c.931C>T (p.Pro311Ser)
|
rs753466617
|
0.00001
|
NM_006302.3(MOGS):c.933A>G (p.Pro311=)
|
rs1266572619
|
0.00001
|
NM_006348.5(COG5):c.*622C>T
|
rs548613467
|
0.00001
|
NM_006348.5(COG5):c.*89A>G
|
rs1798504316
|
0.00001
|
NM_006348.5(COG5):c.*8A>C
|
rs750444305
|
0.00001
|
NM_006348.5(COG5):c.-1C>T
|
rs746011817
|
0.00001
|
NM_006348.5(COG5):c.-3A>G
|
rs779868604
|
0.00001
|
NM_006348.5(COG5):c.1027-10T>C
|
rs1449874316
|
0.00001
|
NM_006348.5(COG5):c.1049A>G (p.Tyr350Cys)
|
rs1388958454
|
0.00001
|
NM_006348.5(COG5):c.1071T>C (p.Thr357=)
|
rs773266850
|
0.00001
|
NM_006348.5(COG5):c.1073A>G (p.Gln358Arg)
|
rs766011355
|
0.00001
|
NM_006348.5(COG5):c.1113G>A (p.Ser371=)
|
rs768870825
|
0.00001
|
NM_006348.5(COG5):c.1153T>C (p.Leu385=)
|
rs746295764
|
0.00001
|
NM_006348.5(COG5):c.1159del (p.Arg387fs)
|
rs1422285851
|
0.00001
|
NM_006348.5(COG5):c.116A>G (p.Asn39Ser)
|
rs141581564
|
0.00001
|
NM_006348.5(COG5):c.1191A>G (p.Gln397=)
|
rs758096164
|
0.00001
|
NM_006348.5(COG5):c.1240G>A (p.Asp414Asn)
|
rs368514277
|
0.00001
|
NM_006348.5(COG5):c.1250T>G (p.Val417Gly)
|
rs773761601
|
0.00001
|
NM_006348.5(COG5):c.1314-3C>T
|
rs1432561660
|
0.00001
|
NM_006348.5(COG5):c.1381C>T (p.Arg461Ter)
|
rs148069173
|
0.00001
|
NM_006348.5(COG5):c.1389C>T (p.Phe463=)
|
rs748974685
|
0.00001
|
NM_006348.5(COG5):c.1410T>A (p.Phe470Leu)
|
rs769542319
|
0.00001
|
NM_006348.5(COG5):c.1424G>A (p.Arg475His)
|
rs1197475508
|
0.00001
|
NM_006348.5(COG5):c.1432C>T (p.Pro478Ser)
|
rs1279772707
|
0.00001
|
NM_006348.5(COG5):c.1452T>C (p.Asp484=)
|
rs1228777798
|
0.00001
|
NM_006348.5(COG5):c.1475+1G>A
|
rs1465217212
|
0.00001
|
NM_006348.5(COG5):c.1535C>G (p.Ala512Gly)
|
rs1037950511
|
0.00001
|
NM_006348.5(COG5):c.1569G>A (p.Glu523=)
|
rs1375308939
|
0.00001
|
NM_006348.5(COG5):c.1575+17A>G
|
rs775465748
|
0.00001
|
NM_006348.5(COG5):c.1597A>G (p.Ser533Gly)
|
rs775375718
|
0.00001
|
NM_006348.5(COG5):c.1607T>C (p.Ile536Thr)
|
rs1278178957
|
0.00001
|
NM_006348.5(COG5):c.1659G>T (p.Leu553Phe)
|
rs1006612410
|
0.00001
|
NM_006348.5(COG5):c.1686+1G>A
|
rs1186590801
|
0.00001
|
NM_006348.5(COG5):c.1687G>T (p.Val563Phe)
|
rs773453129
|
0.00001
|
NM_006348.5(COG5):c.1749+7G>A
|
rs906116599
|
0.00001
|
NM_006348.5(COG5):c.17G>A (p.Gly6Asp)
|
rs919495599
|
0.00001
|
NM_006348.5(COG5):c.1832T>G (p.Met611Arg)
|
rs144172205
|
0.00001
|
NM_006348.5(COG5):c.1838A>G (p.Gln613Arg)
|
rs1186643281
|
0.00001
|
NM_006348.5(COG5):c.1853+1G>C
|
rs1237315874
|
0.00001
|
NM_006348.5(COG5):c.185C>T (p.Ala62Val)
|
rs886061875
|
0.00001
|
NM_006348.5(COG5):c.1984A>C (p.Thr662Pro)
|
rs751860643
|
0.00001
|
NM_006348.5(COG5):c.206G>A (p.Ser69Asn)
|
rs372287766
|
0.00001
|
NM_006348.5(COG5):c.2084T>G (p.Phe695Cys)
|
rs199526957
|
0.00001
|
NM_006348.5(COG5):c.210G>A (p.Gln70=)
|
rs779941468
|
0.00001
|
NM_006348.5(COG5):c.211T>C (p.Leu71=)
|
rs202088548
|
0.00001
|
NM_006348.5(COG5):c.2149C>T (p.Arg717Trp)
|
rs939793014
|
0.00001
|
NM_006348.5(COG5):c.2150G>A (p.Arg717Gln)
|
rs373856634
|
0.00001
|
NM_006348.5(COG5):c.2173C>T (p.Leu725=)
|
rs547247532
|
0.00001
|
NM_006348.5(COG5):c.2212G>T (p.Ala738Ser)
|
rs756618451
|
0.00001
|
NM_006348.5(COG5):c.2231C>T (p.Pro744Leu)
|
rs1135401817
|
0.00001
|
NM_006348.5(COG5):c.2295+13G>A
|
rs1026401988
|
0.00001
|
NM_006348.5(COG5):c.2296-15G>C
|
rs751658237
|
0.00001
|
NM_006348.5(COG5):c.2318G>A (p.Arg773His)
|
rs1221934619
|
0.00001
|
NM_006348.5(COG5):c.234+14T>C
|
rs553558599
|
0.00001
|
NM_006348.5(COG5):c.235-19A>G
|
rs948843542
|
0.00001
|
NM_006348.5(COG5):c.2449A>G (p.Met817Val)
|
rs1005257968
|
0.00001
|
NM_006348.5(COG5):c.2470G>T (p.Ala824Ser)
|
rs1798514537
|
0.00001
|
NM_006348.5(COG5):c.2477C>T (p.Ser826Phe)
|
rs1798513137
|
0.00001
|
NM_006348.5(COG5):c.347+19T>C
|
rs754323784
|
0.00001
|
NM_006348.5(COG5):c.348-13T>A
|
rs1416698251
|
0.00001
|
NM_006348.5(COG5):c.364G>A (p.Val122Ile)
|
rs759063795
|
0.00001
|
NM_006348.5(COG5):c.37C>T (p.Leu13Phe)
|
rs1429157275
|
0.00001
|
NM_006348.5(COG5):c.417+12C>A
|
rs757628356
|
0.00001
|
NM_006348.5(COG5):c.458A>G (p.Asn153Ser)
|
rs1800845136
|
0.00001
|
NM_006348.5(COG5):c.486G>A (p.Leu162=)
|
rs759656787
|
0.00001
|
NM_006348.5(COG5):c.492G>A (p.Gly164=)
|
rs1302971089
|
0.00001
|
NM_006348.5(COG5):c.495A>G (p.Gly165=)
|
rs1282017982
|
0.00001
|
NM_006348.5(COG5):c.538+10T>G
|
rs769195866
|
0.00001
|
NM_006348.5(COG5):c.60G>A (p.Ala20=)
|
rs374761349
|
0.00001
|
NM_006348.5(COG5):c.640C>A (p.Arg214Ser)
|
rs144485187
|
0.00001
|
NM_006348.5(COG5):c.670-16C>T
|
rs1189863857
|
0.00001
|
NM_006348.5(COG5):c.670-20C>G
|
rs761111529
|
0.00001
|
NM_006348.5(COG5):c.707A>G (p.Tyr236Cys)
|
rs777624889
|
0.00001
|
NM_006348.5(COG5):c.70A>G (p.Thr24Ala)
|
rs957736001
|
0.00001
|
NM_006348.5(COG5):c.784A>T (p.Ser262Cys)
|
rs770563311
|
0.00001
|
NM_006348.5(COG5):c.785G>A (p.Ser262Asn)
|
rs1814282526
|
0.00001
|
NM_006348.5(COG5):c.818C>G (p.Ser273Cys)
|
rs1202800081
|
0.00001
|
NM_006348.5(COG5):c.836-9C>T
|
rs757452204
|
0.00001
|
NM_006348.5(COG5):c.839G>T (p.Gly280Val)
|
rs138072101
|
0.00001
|
NM_006348.5(COG5):c.858G>A (p.Met286Ile)
|
rs1325740175
|
0.00001
|
NM_006348.5(COG5):c.880G>T (p.Ala294Ser)
|
rs745832481
|
0.00001
|
NM_006348.5(COG5):c.887G>A (p.Arg296His)
|
rs576854159
|
0.00001
|
NM_006348.5(COG5):c.94+10C>G
|
rs1243460444
|
0.00001
|
NM_006348.5(COG5):c.94+12G>T
|
rs781367888
|
0.00001
|
NM_006348.5(COG5):c.94+3A>G
|
rs374535796
|
0.00001
|
NM_006348.5(COG5):c.940T>C (p.Cys314Arg)
|
rs764832638
|
0.00001
|
NM_006348.5(COG5):c.949-17C>T
|
rs573722041
|
0.00001
|
NM_006348.5(COG5):c.951A>C (p.Val317=)
|
rs1365617209
|
0.00001
|
NM_006348.5(COG5):c.963A>G (p.Gln321=)
|
rs375846157
|
0.00001
|
NM_006348.5(COG5):c.976A>G (p.Lys326Glu)
|
rs988845762
|
0.00001
|
NM_006416.5(SLC35A1):c.1000G>A (p.Val334Ile)
|
rs768492481
|
0.00001
|
NM_006416.5(SLC35A1):c.171G>T (p.Leu57Phe)
|
rs76193993
|
0.00001
|
NM_006416.5(SLC35A1):c.379T>A (p.Cys127Ser)
|
rs1242388466
|
0.00001
|
NM_006416.5(SLC35A1):c.558G>A (p.Leu186=)
|
rs368921086
|
0.00001
|
NM_006416.5(SLC35A1):c.569T>C (p.Phe190Ser)
|
rs763621828
|
0.00001
|
NM_006416.5(SLC35A1):c.960T>G (p.Thr320=)
|
rs775081181
|
0.00001
|
NM_007357.3(COG2):c.1067G>A (p.Arg356Gln)
|
rs1451969018
|
0.00001
|
NM_007357.3(COG2):c.1107C>T (p.Ala369=)
|
rs780488482
|
0.00001
|
NM_007357.3(COG2):c.1182G>A (p.Ala394=)
|
rs756696138
|
0.00001
|
NM_007357.3(COG2):c.1467A>G (p.Gln489=)
|
rs747018671
|
0.00001
|
NM_007357.3(COG2):c.1565A>G (p.Lys522Arg)
|
rs570696606
|
0.00001
|
NM_007357.3(COG2):c.2065G>T (p.Asp689Tyr)
|
rs779134446
|
0.00001
|
NM_007357.3(COG2):c.860G>A (p.Cys287Tyr)
|
rs1413978375
|
0.00001
|
NM_012257.4(HBP1):c.*1088C>T
|
rs886061869
|
0.00001
|
NM_012257.4(HBP1):c.*601A>G
|
rs886061867
|
0.00001
|
NM_015386.3(COG4):c.1054G>A (p.Glu352Lys)
|
rs779083895
|
0.00001
|
NM_015386.3(COG4):c.1124G>A (p.Arg375His)
|
rs762087790
|
0.00001
|
NM_015386.3(COG4):c.1141A>G (p.Ile381Val)
|
rs769825493
|
0.00001
|
NM_015386.3(COG4):c.1202A>G (p.Gln401Arg)
|
rs759768980
|
0.00001
|
NM_015386.3(COG4):c.1314+15G>A
|
rs760842896
|
0.00001
|
NM_015386.3(COG4):c.1358G>T (p.Ser453Ile)
|
rs149376914
|
0.00001
|
NM_015386.3(COG4):c.1415G>A (p.Ser472Asn)
|
rs372362031
|
0.00001
|
NM_015386.3(COG4):c.1482-7C>G
|
rs2049341542
|
0.00001
|
NM_015386.3(COG4):c.150C>T (p.Tyr50=)
|
rs200747786
|
0.00001
|
NM_015386.3(COG4):c.1536C>T (p.Asp512=)
|
rs1330420100
|
0.00001
|
NM_015386.3(COG4):c.1624G>T (p.Asp542Tyr)
|
rs777169655
|
0.00001
|
NM_015386.3(COG4):c.1631C>T (p.Ala544Val)
|
rs886052258
|
0.00001
|
NM_015386.3(COG4):c.172-14T>A
|
rs533486299
|
0.00001
|
NM_015386.3(COG4):c.1798G>A (p.Val600Met)
|
rs767599010
|
0.00001
|
NM_015386.3(COG4):c.1875G>T (p.Gln625His)
|
rs765074288
|
0.00001
|
NM_015386.3(COG4):c.2067C>T (p.Val689=)
|
rs376705726
|
0.00001
|
NM_015386.3(COG4):c.2104C>T (p.Arg702Trp)
|
rs776426825
|
0.00001
|
NM_015386.3(COG4):c.2197C>T (p.Arg733Trp)
|
rs267606740
|
0.00001
|
NM_015386.3(COG4):c.2268T>C (p.Asn756=)
|
rs1056975658
|
0.00001
|
NM_015386.3(COG4):c.2343T>C (p.Ser781=)
|
rs987662091
|
0.00001
|
NM_015386.3(COG4):c.2358G>C (p.Arg786Ser)
|
rs760163512
|
0.00001
|
NM_015386.3(COG4):c.339C>T (p.Ser113=)
|
rs1178516238
|
0.00001
|
NM_015386.3(COG4):c.496T>G (p.Leu166Val)
|
rs1413305790
|
0.00001
|
NM_015386.3(COG4):c.529C>T (p.Arg177Ter)
|
rs376663459
|
0.00001
|
NM_018389.5(SLC35C1):c.*1419A>G
|
rs2085964667
|
0.00001
|
NM_018389.5(SLC35C1):c.*1543C>G
|
rs766558309
|
0.00001
|
NM_018389.5(SLC35C1):c.*1647T>C
|
rs886048323
|
0.00001
|
NM_018389.5(SLC35C1):c.*542A>T
|
rs538005835
|
0.00001
|
NM_018389.5(SLC35C1):c.*72G>A
|
rs528884213
|
0.00001
|
NM_018389.5(SLC35C1):c.-287C>G
|
rs974599944
|
0.00001
|
NM_018389.5(SLC35C1):c.-312T>C
|
rs886048312
|
0.00001
|
NM_018389.5(SLC35C1):c.-393C>T
|
rs886048311
|
0.00001
|
NM_018389.5(SLC35C1):c.1013C>T (p.Thr338Ile)
|
rs768592798
|
0.00001
|
NM_018389.5(SLC35C1):c.1031A>G (p.Glu344Gly)
|
rs759504632
|
0.00001
|
NM_018389.5(SLC35C1):c.1053G>T (p.Glu351Asp)
|
rs764451718
|
0.00001
|
NM_018389.5(SLC35C1):c.1080C>T (p.Ser360=)
|
rs749987181
|
0.00001
|
NM_018389.5(SLC35C1):c.116T>C (p.Leu39Ser)
|
rs771587118
|
0.00001
|
NM_018389.5(SLC35C1):c.130G>A (p.Val44Met)
|
rs541937245
|
0.00001
|
NM_018389.5(SLC35C1):c.163A>G (p.Met55Val)
|
rs767671094
|
0.00001
|
NM_018389.5(SLC35C1):c.220A>G (p.Ile74Val)
|
rs1184839008
|
0.00001
|
NM_018389.5(SLC35C1):c.307G>T (p.Asp103Tyr)
|
rs760741388
|
0.00001
|
NM_018389.5(SLC35C1):c.312C>T (p.Phe104=)
|
rs75224835
|
0.00001
|
NM_018389.5(SLC35C1):c.354G>A (p.Leu118=)
|
rs777637034
|
0.00001
|
NM_018389.5(SLC35C1):c.356C>A (p.Pro119His)
|
rs1249225084
|
0.00001
|
NM_018389.5(SLC35C1):c.372C>T (p.Phe124=)
|
rs1172535420
|
0.00001
|
NM_018389.5(SLC35C1):c.410A>C (p.Tyr137Ser)
|
rs1183848479
|
0.00001
|
NM_018389.5(SLC35C1):c.412G>A (p.Val138Ile)
|
rs1235114730
|
0.00001
|
NM_018389.5(SLC35C1):c.433G>A (p.Val145Met)
|
rs751986448
|
0.00001
|
NM_018389.5(SLC35C1):c.440G>A (p.Arg147His)
|
rs886048314
|
0.00001
|
NM_018389.5(SLC35C1):c.495C>T (p.Thr165=)
|
rs1218424425
|
0.00001
|
NM_018389.5(SLC35C1):c.501C>T (p.Ser167=)
|
rs956237776
|
0.00001
|
NM_018389.5(SLC35C1):c.535G>A (p.Gly179Arg)
|
rs752325595
|
0.00001
|
NM_018389.5(SLC35C1):c.536-10C>G
|
rs759978339
|
0.00001
|
NM_018389.5(SLC35C1):c.630G>A (p.Ser210=)
|
rs200577486
|
0.00001
|
NM_018389.5(SLC35C1):c.662C>T (p.Pro221Leu)
|
rs766191758
|
0.00001
|
NM_018389.5(SLC35C1):c.666G>A (p.Ala222=)
|
rs754930082
|
0.00001
|
NM_018389.5(SLC35C1):c.712G>A (p.Ala238Thr)
|
rs747660149
|
0.00001
|
NM_018389.5(SLC35C1):c.812C>T (p.Thr271Met)
|
rs748793953
|
0.00001
|
NM_018389.5(SLC35C1):c.82G>A (p.Ala28Thr)
|
rs1395133658
|
0.00001
|
NM_018389.5(SLC35C1):c.837C>T (p.Ala279=)
|
rs371692301
|
0.00001
|
NM_018389.5(SLC35C1):c.841G>A (p.Gly281Ser)
|
rs1410328784
|
0.00001
|
NM_018389.5(SLC35C1):c.846C>T (p.Tyr282=)
|
rs748113243
|
0.00001
|
NM_018389.5(SLC35C1):c.872C>T (p.Thr291Ile)
|
rs751828447
|
0.00001
|
NM_018389.5(SLC35C1):c.878C>T (p.Pro293Leu)
|
rs372897536
|
0.00001
|
NM_018389.5(SLC35C1):c.897G>A (p.Ser299=)
|
rs141170131
|
0.00001
|
NM_018389.5(SLC35C1):c.902C>T (p.Thr301Met)
|
rs770499899
|
0.00001
|
NM_018389.5(SLC35C1):c.924A>G (p.Thr308=)
|
rs1489703407
|
0.00001
|
NM_018389.5(SLC35C1):c.933C>T (p.Ala311=)
|
rs1025394775
|
0.00001
|
NM_018389.5(SLC35C1):c.942C>G (p.Tyr314Ter)
|
rs766512058
|
0.00001
|
NM_018389.5(SLC35C1):c.974C>T (p.Thr325Met)
|
rs753103441
|
0.00001
|
NM_018389.5(SLC35C1):c.983T>C (p.Met328Thr)
|
rs764394629
|
0.00001
|
NM_018389.5(SLC35C1):c.997G>A (p.Gly333Ser)
|
rs757642463
|
0.00001
|
NM_018475.5(TMEM165):c.*436T>C
|
rs903973357
|
0.00001
|
NM_018475.5(TMEM165):c.15T>C (p.Ala5=)
|
rs764693617
|
0.00001
|
NM_018475.5(TMEM165):c.226G>C (p.Ala76Pro)
|
rs1312894231
|
0.00001
|
NM_018475.5(TMEM165):c.376C>T (p.Arg126Cys)
|
rs387907222
|
0.00001
|
NM_018475.5(TMEM165):c.40C>T (p.Pro14Ser)
|
rs1018878795
|
0.00001
|
NM_018475.5(TMEM165):c.617G>A (p.Arg206Gln)
|
rs200205156
|
0.00001
|
NM_018475.5(TMEM165):c.63G>C (p.Leu21=)
|
rs746908576
|
0.00001
|
NM_018475.5(TMEM165):c.652A>G (p.Thr218Ala)
|
rs1721802537
|
0.00001
|
NM_018475.5(TMEM165):c.660A>C (p.Thr220=)
|
rs762748207
|
0.00001
|
NM_018475.5(TMEM165):c.811G>A (p.Val271Met)
|
rs764212150
|
0.00001
|
NM_018475.5(TMEM165):c.97G>A (p.Ala33Thr)
|
rs1021277116
|
0.00001
|
NM_018714.3(COG1):c.1017A>T (p.Ala339=)
|
rs1270386762
|
0.00001
|
NM_018714.3(COG1):c.1070+3A>G
|
rs201281586
|
0.00001
|
NM_018714.3(COG1):c.1070+9C>A
|
rs781005411
|
0.00001
|
NM_018714.3(COG1):c.1071G>T (p.Met357Ile)
|
rs761343140
|
0.00001
|
NM_018714.3(COG1):c.1108C>T (p.Leu370Phe)
|
rs1429642320
|
0.00001
|
NM_018714.3(COG1):c.1116C>T (p.Tyr372=)
|
rs369118260
|
0.00001
|
NM_018714.3(COG1):c.1153G>A (p.Ala385Thr)
|
rs770355508
|
0.00001
|
NM_018714.3(COG1):c.1236G>A (p.Leu412=)
|
rs371641254
|
0.00001
|
NM_018714.3(COG1):c.1318A>G (p.Ser440Gly)
|
rs886053369
|
0.00001
|
NM_018714.3(COG1):c.1428G>A (p.Trp476Ter)
|
rs1227032564
|
0.00001
|
NM_018714.3(COG1):c.1462G>T (p.Ala488Ser)
|
rs1451680348
|
0.00001
|
NM_018714.3(COG1):c.1474G>A (p.Val492Met)
|
rs565847659
|
0.00001
|
NM_018714.3(COG1):c.1480A>G (p.Asn494Asp)
|
rs779677895
|
0.00001
|
NM_018714.3(COG1):c.1504G>A (p.Gly502Ser)
|
rs770925715
|
0.00001
|
NM_018714.3(COG1):c.1621T>A (p.Ser541Thr)
|
rs1485609633
|
0.00001
|
NM_018714.3(COG1):c.1689G>A (p.Ala563=)
|
rs1313968056
|
0.00001
|
NM_018714.3(COG1):c.1695C>T (p.Thr565=)
|
rs760702621
|
0.00001
|
NM_018714.3(COG1):c.1723G>A (p.Val575Met)
|
rs755592132
|
0.00001
|
NM_018714.3(COG1):c.1750T>C (p.Cys584Arg)
|
rs1230710369
|
0.00001
|
NM_018714.3(COG1):c.1834C>A (p.Leu612Ile)
|
rs936131075
|
0.00001
|
NM_018714.3(COG1):c.2035G>A (p.Val679Met)
|
rs1229728305
|
0.00001
|
NM_018714.3(COG1):c.2042G>A (p.Gly681Asp)
|
rs766057419
|
0.00001
|
NM_018714.3(COG1):c.2368G>C (p.Glu790Gln)
|
rs749884441
|
0.00001
|
NM_018714.3(COG1):c.2382+4G>A
|
rs1047192668
|
0.00001
|
NM_018714.3(COG1):c.2546T>C (p.Ile849Thr)
|
rs138801104
|
0.00001
|
NM_018714.3(COG1):c.2600G>A (p.Arg867His)
|
rs374341080
|
0.00001
|
NM_018714.3(COG1):c.261C>T (p.Cys87=)
|
rs1187216995
|
0.00001
|
NM_018714.3(COG1):c.2675C>T (p.Thr892Met)
|
rs751977123
|
0.00001
|
NM_018714.3(COG1):c.2682C>T (p.Asn894=)
|
rs781686684
|
0.00001
|
NM_018714.3(COG1):c.273C>G (p.Arg91=)
|
rs1184771069
|
0.00001
|
NM_018714.3(COG1):c.2791G>A (p.Glu931Lys)
|
rs774479733
|
0.00001
|
NM_018714.3(COG1):c.2844A>G (p.Thr948=)
|
rs376824047
|
0.00001
|
NM_018714.3(COG1):c.2848C>T (p.Pro950Ser)
|
rs779987364
|
0.00001
|
NM_018714.3(COG1):c.2866C>T (p.Gln956Ter)
|
rs748475815
|
0.00001
|
NM_018714.3(COG1):c.2892G>A (p.Thr964=)
|
rs775097195
|
0.00001
|
NM_018714.3(COG1):c.303G>A (p.Pro101=)
|
rs886053368
|
0.00001
|
NM_018714.3(COG1):c.311A>G (p.Gln104Arg)
|
rs1285029408
|
0.00001
|
NM_018714.3(COG1):c.504C>T (p.Pro168=)
|
rs773716192
|
0.00001
|
NM_018714.3(COG1):c.505G>A (p.Val169Ile)
|
rs761121843
|
0.00001
|
NM_018714.3(COG1):c.671G>A (p.Arg224His)
|
rs1434730052
|
0.00001
|
NM_018714.3(COG1):c.705G>A (p.Lys235=)
|
rs1384297418
|
0.00001
|
NM_018714.3(COG1):c.791C>T (p.Thr264Ile)
|
rs367884440
|
0.00001
|
NM_018714.3(COG1):c.79G>T (p.Ala27Ser)
|
rs529636950
|
0.00001
|
NM_018714.3(COG1):c.828G>T (p.Leu276Phe)
|
rs769317853
|
0.00001
|
NM_018714.3(COG1):c.85G>A (p.Glu29Lys)
|
rs1032371996
|
0.00001
|
NM_018714.3(COG1):c.988G>A (p.Glu330Lys)
|
rs779924491
|
0.00001
|
NM_020751.3(COG6):c.*1241A>G
|
rs778373974
|
0.00001
|
NM_020751.3(COG6):c.*129C>T
|
rs553571851
|
0.00001
|
NM_020751.3(COG6):c.*352T>G
|
rs765226879
|
0.00001
|
NM_020751.3(COG6):c.*61T>C
|
rs886050230
|
0.00001
|
NM_020751.3(COG6):c.-44C>G
|
rs773473260
|
0.00001
|
NM_020751.3(COG6):c.-50G>A
|
rs1442379324
|
0.00001
|
NM_020751.3(COG6):c.1009+15T>C
|
rs757170273
|
0.00001
|
NM_020751.3(COG6):c.1009+6T>C
|
rs752382409
|
0.00001
|
NM_020751.3(COG6):c.1236A>G (p.Lys412=)
|
rs764254797
|
0.00001
|
NM_020751.3(COG6):c.123G>A (p.Lys41=)
|
rs757337069
|
0.00001
|
NM_020751.3(COG6):c.1247A>G (p.Asn416Ser)
|
rs756614480
|
0.00001
|
NM_020751.3(COG6):c.126C>T (p.Ile42=)
|
rs746085866
|
0.00001
|
NM_020751.3(COG6):c.1513C>T (p.Leu505=)
|
rs886050228
|
0.00001
|
NM_020751.3(COG6):c.154-12C>T
|
rs368678409
|
0.00001
|
NM_020751.3(COG6):c.1585-2A>G
|
rs200812708
|
0.00001
|
NM_020751.3(COG6):c.1676A>T (p.Gln559Leu)
|
rs370704123
|
0.00001
|
NM_020751.3(COG6):c.260A>G (p.Asn87Ser)
|
rs751870618
|
0.00001
|
NM_020751.3(COG6):c.310A>G (p.Ile104Val)
|
rs770411791
|
0.00001
|
NM_020751.3(COG6):c.697G>A (p.Glu233Lys)
|
rs745501973
|
0.00001
|
NM_020751.3(COG6):c.835C>T (p.Arg279Cys)
|
rs764437648
|
0.00001
|
NM_020751.3(COG6):c.868C>T (p.Pro290Ser)
|
rs748959066
|
0.00001
|
NM_020751.3(COG6):c.920A>G (p.Tyr307Cys)
|
rs754624882
|
0.00001
|
NM_020751.3(COG6):c.958G>A (p.Ala320Thr)
|
rs1347701158
|
0.00001
|
NM_025191.4(EDEM3):c.1407T>A (p.Tyr469Ter)
|
rs902837579
|
0.00001
|
NM_032382.5(COG8):c.*26+5G>C
|
rs1489510736
|
0.00001
|
NM_032382.5(COG8):c.*492C>T
|
rs886052249
|
0.00001
|
NM_032382.5(COG8):c.*506C>T
|
rs886052248
|
0.00001
|
NM_032382.5(COG8):c.*568G>T
|
rs143819789
|
0.00001
|
NM_032382.5(COG8):c.*73G>A
|
rs1215066535
|
0.00001
|
NM_032382.5(COG8):c.1099T>C (p.Leu367=)
|
rs369130573
|
0.00001
|
NM_032382.5(COG8):c.1208C>A (p.Pro403Gln)
|
rs1426796055
|
0.00001
|
NM_032382.5(COG8):c.1319A>G (p.Asn440Ser)
|
rs763537807
|
0.00001
|
NM_032382.5(COG8):c.1348C>T (p.Arg450Cys)
|
rs776576528
|
0.00001
|
NM_032382.5(COG8):c.1488C>A (p.Val496=)
|
rs759654404
|
0.00001
|
NM_032382.5(COG8):c.1524G>A (p.Pro508=)
|
rs376659578
|
0.00001
|
NM_032382.5(COG8):c.1584C>G (p.Gly528=)
|
rs769321092
|
0.00001
|
NM_032382.5(COG8):c.1666C>T (p.Leu556=)
|
rs1322293570
|
0.00001
|
NM_032382.5(COG8):c.1793G>A (p.Gly598Glu)
|
rs774046470
|
0.00001
|
NM_032382.5(COG8):c.377+14G>A
|
rs2012381432
|
0.00001
|
NM_032382.5(COG8):c.416G>A (p.Arg139His)
|
rs762499740
|
0.00001
|
NM_032382.5(COG8):c.558G>A (p.Arg186=)
|
rs754606895
|
0.00001
|
NM_032382.5(COG8):c.697C>T (p.Arg233Trp)
|
rs779008742
|
0.00001
|
NM_032382.5(COG8):c.698G>A (p.Arg233Gln)
|
rs1017255729
|
0.00001
|
NM_032382.5(COG8):c.700C>T (p.Arg234Cys)
|
rs751431041
|
0.00001
|
NM_032382.5(COG8):c.919C>T (p.His307Tyr)
|
rs372889874
|
0.00001
|
NM_032382.5(COG8):c.979C>T (p.Leu327=)
|
rs146417943
|
0.00001
|
NM_032382.5(COG8):c.997G>A (p.Asp333Asn)
|
rs759864228
|
0.00001
|
NM_153603.4(COG7):c.1010-19C>T
|
rs748110576
|
0.00001
|
NM_153603.4(COG7):c.1035G>A (p.Thr345=)
|
rs751396156
|
0.00001
|
NM_153603.4(COG7):c.1053G>A (p.Val351=)
|
rs765976652
|
0.00001
|
NM_153603.4(COG7):c.1093A>G (p.Met365Val)
|
rs1186888889
|
0.00001
|
NM_153603.4(COG7):c.109G>A (p.Ala37Thr)
|
rs1327432623
|
0.00001
|
NM_153603.4(COG7):c.1182C>T (p.Ser394=)
|
rs778585982
|
0.00001
|
NM_153603.4(COG7):c.1183G>A (p.Val395Met)
|
rs369307885
|
0.00001
|
NM_153603.4(COG7):c.1475+11G>A
|
rs777930529
|
0.00001
|
NM_153603.4(COG7):c.1532C>G (p.Ala511Gly)
|
rs766815684
|
0.00001
|
NM_153603.4(COG7):c.1657C>A (p.Leu553Ile)
|
rs1013455293
|
0.00001
|
NM_153603.4(COG7):c.1703G>A (p.Arg568Gln)
|
rs961127814
|
0.00001
|
NM_153603.4(COG7):c.1717C>T (p.Arg573Trp)
|
rs548129734
|
0.00001
|
NM_153603.4(COG7):c.1793C>T (p.Ser598Leu)
|
rs754431741
|
0.00001
|
NM_153603.4(COG7):c.1825G>A (p.Gly609Arg)
|
rs369854088
|
0.00001
|
NM_153603.4(COG7):c.1970A>G (p.His657Arg)
|
rs767518060
|
0.00001
|
NM_153603.4(COG7):c.1986A>G (p.Pro662=)
|
rs1275768025
|
0.00001
|
NM_153603.4(COG7):c.2016C>T (p.Pro672=)
|
rs769602942
|
0.00001
|
NM_153603.4(COG7):c.2146+4G>C
|
rs750266735
|
0.00001
|
NM_153603.4(COG7):c.2146+8C>T
|
rs764926770
|
0.00001
|
NM_153603.4(COG7):c.2147-10G>A
|
rs368816921
|
0.00001
|
NM_153603.4(COG7):c.2187G>A (p.Pro729=)
|
rs759094324
|
0.00001
|
NM_153603.4(COG7):c.2291C>T (p.Thr764Ile)
|
rs1299896596
|
0.00001
|
NM_153603.4(COG7):c.2292C>G (p.Thr764=)
|
rs114918337
|
0.00001
|
NM_153603.4(COG7):c.2302G>A (p.Val768Met)
|
rs754629845
|
0.00001
|
NM_153603.4(COG7):c.319-14C>T
|
rs756656603
|
0.00001
|
NM_153603.4(COG7):c.371C>A (p.Ser124Tyr)
|
rs1270268038
|
0.00001
|
NM_153603.4(COG7):c.409G>A (p.Asp137Asn)
|
rs758676102
|
0.00001
|
NM_153603.4(COG7):c.503C>G (p.Pro168Arg)
|
rs1385977854
|
0.00001
|
NM_153603.4(COG7):c.647G>A (p.Arg216Gln)
|
rs766859040
|
0.00001
|
NM_153603.4(COG7):c.687+11G>A
|
rs749081598
|
0.00001
|
NM_153603.4(COG7):c.687+14C>T
|
rs139853094
|
0.00001
|
NM_153603.4(COG7):c.721C>A (p.Gln241Lys)
|
rs758862580
|
0.00001
|
NM_153603.4(COG7):c.768C>T (p.Ala256=)
|
rs183038281
|
0.00001
|
NM_153603.4(COG7):c.994C>G (p.Leu332Val)
|
rs1355304299
|
0.00001
|
NM_181581.3(DUS4L):c.-111+147G>C
|
rs886061881
|
0.00001
|
NM_181581.3(DUS4L):c.-334C>T
|
rs1010594801
|
0.00001
|
NC_000001.10:g.(?_230203028)_(231413288_?)del
|
|
|
NC_000002.11:g.(?_72359356)_(74779761_?)del
|
|
|
NC_000002.11:g.(?_74691603)_(74692374_?)dup
|
|
|
NC_000002.12:g.(?_74461255)_(74465267_?)del
|
|
|
NC_000004.11:g.(?_55124936)_(57368027_?)del
|
|
|
NC_000004.11:g.(?_55124936)_(57798318_?)dup
|
|
|
NC_000007.13:g.(?_106843961)_(107053097_?)del
|
|
|
NC_000007.13:g.(?_106876875)_(107013225_?)dup
|
|
|
NC_000007.13:g.(?_106888821)_(106898848_?)dup
|
|
|
NC_000007.13:g.(?_106897157)_(106938811_?)del
|
|
|
NC_000007.13:g.(?_106897157)_(107002885_?)del
|
|
|
NC_000007.13:g.(?_106921725)_(106924197_?)del
|
|
|
NC_000007.13:g.(?_106921725)_(106964986_?)dup
|
|
|
NC_000007.13:g.(?_106921725)_(107167822_?)del
|
|
|
NC_000007.13:g.(?_106964865)_(106964986_?)del
|
|
|
NC_000007.13:g.(?_107002458)_(107002885_?)del
|
|
|
NC_000007.13:g.(?_107002458)_(107053097_?)del
|
|
|
NC_000007.13:g.(?_107002458)_(107204434_?)del
|
|
|
NC_000007.13:g.(?_107052927)_(107053097_?)del
|
|
|
NC_000007.13:g.(?_107167662)_(107167822_?)del
|
|
|
NC_000007.13:g.(?_107188536)_(107204434_?)del
|
|
|
NC_000007.13:g.(?_107204228)_(107204434_?)del
|
|
|
NC_000007.14:g.107563921G>A
|
rs201256361
|
|
NC_000007.14:g.107563935G>A
|
rs1245430599
|
|
NC_000007.14:g.107563946G>A
|
rs934471777
|
|
NC_000007.14:g.107563946G>T
|
rs934471777
|
|
NC_000007.14:g.107563960del
|
rs1453226093
|
|
NC_000011.10:g.(?_45805782)_(45910982_?)dup
|
|
|
NC_000011.9:g.(?_45827353)_(47804770_?)del
|
|
|
NC_000011.9:g.(?_45827353)_(47804770_?)dup
|
|
|
NC_000016.10:g.(70426035_70473004)_(70512433_70519648)del
|
|
|
NC_000016.9:g.(?_23193865)_(23652612_?)del
|
|
|
NC_000017.10:g.(?_71189189)_(71189543_?)dup
|
|
|
NC_000023.10:g.(?_47001716)_(50659607_?)dup
|
|
|
NC_000023.10:g.(?_48382160)_(49856876_?)dup
|
|
|
NC_000023.10:g.(?_48542223)_(48768933_?)dup
|
|
|
NC_000023.10:g.(?_48755773)_(48935774_?)dup
|
|
|
NC_000023.10:g.(?_48762413)_(48763384_?)del
|
|
|
NM_001098832.2(VCF1):c.*1231_*1235del
|
|
|
NM_001135146.2(SLC39A8):c.*1062C>T
|
|
|
NM_001135146.2(SLC39A8):c.1019T>A (p.Ile340Asn)
|
rs864309659
|
|
NM_001135146.2(SLC39A8):c.1020C>G (p.Ile340Met)
|
rs1732174032
|
|
NM_001135146.2(SLC39A8):c.1026T>A (p.Cys342Ter)
|
rs1732173818
|
|
NM_001135146.2(SLC39A8):c.1097dup (p.Leu366fs)
|
rs1553911693
|
|
NM_001135146.2(SLC39A8):c.1372G>C (p.Glu458Gln)
|
|
|
NM_001135146.2(SLC39A8):c.16_28del (p.Ala6fs)
|
|
|
NM_001135146.2(SLC39A8):c.218dup (p.Cys74fs)
|
rs2149060093
|
|
NM_001135146.2(SLC39A8):c.316C>T (p.Gln106Ter)
|
rs1734625225
|
|
NM_001135146.2(SLC39A8):c.337T>C (p.Cys113Arg)
|
rs950101299
|
|
NM_001135146.2(SLC39A8):c.338G>C (p.Cys113Ser)
|
rs1444255127
|
|
NM_001135146.2(SLC39A8):c.915G>C (p.Trp305Cys)
|
rs1578557666
|
|
NM_001164277.2(SLC37A4):c.1016G>A (p.Gly339Asp)
|
rs121908980
|
|
NM_001164277.2(SLC37A4):c.1117G>A (p.Ala373Thr)
|
rs1565686175
|
|
NM_001164277.2(SLC37A4):c.1176T>G (p.Ser392Arg)
|
rs782552989
|
|
NM_001164277.2(SLC37A4):c.1267C>T (p.Arg423Ter)
|
rs2134626266
|
|
NM_001164277.2(SLC37A4):c.127C>T (p.Pro43Ser)
|
rs781846380
|
|
NM_001164277.2(SLC37A4):c.1287G>C (p.Glu429Asp)
|
rs1483724786
|
|
NM_001164277.2(SLC37A4):c.13G>A (p.Gly5Ser)
|
rs571267951
|
|
NM_001164277.2(SLC37A4):c.13G>C (p.Gly5Arg)
|
rs571267951
|
|
NM_001164277.2(SLC37A4):c.148+1G>A
|
rs1943672400
|
|
NM_001164277.2(SLC37A4):c.149G>A (p.Gly50Glu)
|
rs193302877
|
|
NM_001164277.2(SLC37A4):c.173C>T (p.Ala58Val)
|
rs782083266
|
|
NM_001164277.2(SLC37A4):c.230G>A (p.Arg77His)
|
rs370839177
|
|
NM_001164277.2(SLC37A4):c.359dup (p.Cys121fs)
|
rs1182102272
|
|
NM_001164277.2(SLC37A4):c.492C>T (p.Ser164=)
|
rs369399624
|
|
NM_001164277.2(SLC37A4):c.556C>T (p.Leu186Phe)
|
rs538938823
|
|
NM_001164277.2(SLC37A4):c.679T>C (p.Trp227Arg)
|
rs1176277831
|
|
NM_001164277.2(SLC37A4):c.723C>T (p.Thr241=)
|
rs782547500
|
|
NM_001164277.2(SLC37A4):c.74_77del (p.Tyr25fs)
|
rs1447366650
|
|
NM_001164277.2(SLC37A4):c.899G>A (p.Arg300His)
|
rs193302903
|
|
NM_001164277.2(SLC37A4):c.901C>G (p.His301Asp)
|
rs539911116
|
|
NM_001164277.2(SLC37A4):c.977C>A (p.Ser326Tyr)
|
rs1943553852
|
|
NM_001282648.2(SLC35A2):c.-81_202+1del
|
|
|
NM_001497.4(B4GALT1):c.1031dup (p.Arg345fs)
|
rs1564035076
|
|
NM_001497.4(B4GALT1):c.579C>G (p.Tyr193Ter)
|
rs1840249855
|
|
NM_001497.4(B4GALT1):c.5G>C (p.Arg2Thr)
|
rs1587756000
|
|
NM_001745.4(CAMLG):c.633+4A>G
|
|
|
NM_002408.3(MGAT2):c.-486C>G
|
rs539954989
|
|
NM_002408.3(MGAT2):c.-494C>T
|
rs972383596
|
|
NM_002408.3(MGAT2):c.869C>T (p.Ser290Phe)
|
rs104894446
|
|
NM_002408.4(MGAT2):c.*144C>A
|
rs772684804
|
|
NM_002408.4(MGAT2):c.*598T>C
|
rs1882904880
|
|
NM_002408.4(MGAT2):c.-110G>C
|
rs1882833559
|
|
NM_002408.4(MGAT2):c.-121C>G
|
rs112513155
|
|
NM_002408.4(MGAT2):c.-190G>A
|
rs1882830309
|
|
NM_002408.4(MGAT2):c.-304C>A
|
rs1838899424
|
|
NM_002408.4(MGAT2):c.-338C>T
|
rs886050516
|
|
NM_002408.4(MGAT2):c.-350C>G
|
rs886050515
|
|
NM_002408.4(MGAT2):c.-351G>T
|
rs116136260
|
|
NM_002408.4(MGAT2):c.-360G>T
|
rs886050514
|
|
NM_002408.4(MGAT2):c.-429G>A
|
rs886050513
|
|
NM_002408.4(MGAT2):c.-446C>G
|
rs886050512
|
|
NM_002408.4(MGAT2):c.1016_1020del (p.Cys339fs)
|
|
|
NM_002408.4(MGAT2):c.1017T>A (p.Cys339Ter)
|
rs104894449
|
|
NM_002408.4(MGAT2):c.105G>A (p.Glu35=)
|
rs1882842749
|
|
NM_002408.4(MGAT2):c.1085G>A (p.Trp362Ter)
|
|
|
NM_002408.4(MGAT2):c.1104A>G (p.Gln368=)
|
rs369433027
|
|
NM_002408.4(MGAT2):c.1233A>T (p.Leu411=)
|
rs563513161
|
|
NM_002408.4(MGAT2):c.1234A>G (p.Thr412Ala)
|
|
|
NM_002408.4(MGAT2):c.1234_1237del (p.Thr412fs)
|
|
|
NM_002408.4(MGAT2):c.1262C>T (p.Ala421Val)
|
|
|
NM_002408.4(MGAT2):c.1290G>A (p.Gly430=)
|
rs144122741
|
|
NM_002408.4(MGAT2):c.15C>G (p.Ile5Met)
|
rs1882838721
|
|
NM_002408.4(MGAT2):c.163G>A (p.Gly55Arg)
|
|
|
NM_002408.4(MGAT2):c.189C>T (p.Gly63=)
|
|
|
NM_002408.4(MGAT2):c.216G>A (p.Ala72=)
|
|
|
NM_002408.4(MGAT2):c.250G>T (p.Ala84Ser)
|
rs527933593
|
|
NM_002408.4(MGAT2):c.263C>G (p.Thr88Arg)
|
rs918814159
|
|
NM_002408.4(MGAT2):c.302A>T (p.Asp101Val)
|
rs1882852150
|
|
NM_002408.4(MGAT2):c.315G>T (p.Arg105Ser)
|
rs147502375
|
|
NM_002408.4(MGAT2):c.327G>T (p.Lys109Asn)
|
rs1882853347
|
|
NM_002408.4(MGAT2):c.349G>C (p.Glu117Gln)
|
|
|
NM_002408.4(MGAT2):c.354G>A (p.Leu118=)
|
rs201805816
|
|
NM_002408.4(MGAT2):c.509G>A (p.Cys170Tyr)
|
rs751276217
|
|
NM_002408.4(MGAT2):c.511C>A (p.Pro171Thr)
|
rs1327830771
|
|
NM_002408.4(MGAT2):c.525G>A (p.Val175=)
|
|
|
NM_002408.4(MGAT2):c.590C>A (p.Pro197His)
|
rs1318755521
|
|
NM_002408.4(MGAT2):c.688A>C (p.Thr230Pro)
|
rs1555327096
|
|
NM_002408.4(MGAT2):c.711G>C (p.Lys237Asn)
|
rs730882218
|
|
NM_002408.4(MGAT2):c.753dup (p.Ala252fs)
|
rs1566504935
|
|
NM_002408.4(MGAT2):c.766C>G (p.Leu256Val)
|
rs775221699
|
|
NM_002408.4(MGAT2):c.781G>T (p.Asp261Tyr)
|
|
|
NM_002408.4(MGAT2):c.785A>G (p.His262Arg)
|
rs104894447
|
|
NM_002408.4(MGAT2):c.797C>T (p.Pro266Leu)
|
rs1566505007
|
|
NM_002408.4(MGAT2):c.799G>C (p.Asp267His)
|
rs1566505013
|
|
NM_002408.4(MGAT2):c.805T>C (p.Tyr269His)
|
|
|
NM_002408.4(MGAT2):c.814T>C (p.Phe272Leu)
|
|
|
NM_002408.4(MGAT2):c.834G>A (p.Leu278=)
|
|
|
NM_002408.4(MGAT2):c.842A>C (p.Gln281Pro)
|
|
|
NM_002408.4(MGAT2):c.848G>A (p.Cys283Tyr)
|
|
|
NM_002408.4(MGAT2):c.850C>T (p.Pro284Ser)
|
rs201673817
|
|
NM_002408.4(MGAT2):c.866T>A (p.Leu289His)
|
rs1173622190
|
|
NM_002408.4(MGAT2):c.952A>G (p.Asn318Asp)
|
rs104894448
|
|
NM_004481.5(GALNT2):c.1372G>A (p.Asp458Asn)
|
|
|
NM_004481.5(GALNT2):c.296dup (p.Tyr99Ter)
|
rs1663959543
|
|
NM_004481.5(GALNT2):c.311T>C (p.Phe104Ser)
|
rs1663960324
|
|
NM_004481.5(GALNT2):c.449C>T (p.Ser150Leu)
|
|
|
NM_004481.5(GALNT2):c.460A>T (p.Arg154Trp)
|
|
|
NM_004481.5(GALNT2):c.526G>C (p.Asp176His)
|
rs2102736154
|
|
NM_004481.5(GALNT2):c.598C>T (p.Arg200Ter)
|
rs1431963909
|
|
NM_004481.5(GALNT2):c.623G>A (p.Arg208Gln)
|
rs2102741708
|
|
NM_004481.5(GALNT2):c.629G>C (p.Arg210Pro)
|
rs376870425
|
|
NM_004481.5(GALNT2):c.865C>T (p.Gln289Ter)
|
rs1665467473
|
|
NM_005660.2(SLC35A2):c.-15C>A
|
|
|
NM_005660.3(SLC35A2):c.101G>A (p.Arg34His)
|
rs1199079627
|
|
NM_005660.3(SLC35A2):c.1021C>T (p.Pro341Ser)
|
|
|
NM_005660.3(SLC35A2):c.1030G>A (p.Ala344Thr)
|
rs369861178
|
|
NM_005660.3(SLC35A2):c.1030G>T (p.Ala344Ser)
|
|
|
NM_005660.3(SLC35A2):c.1042A>G (p.Ile348Val)
|
|
|
NM_005660.3(SLC35A2):c.1050TGCCTC[1] (p.349AS[3])
|
rs781977360
|
|
NM_005660.3(SLC35A2):c.1050TGCCTC[3] (p.349AS[5])
|
rs781977360
|
|
NM_005660.3(SLC35A2):c.1058CCTCCG[1] (p.349AS[3])
|
rs782439562
|
|
NM_005660.3(SLC35A2):c.1058CCTCCG[3] (p.349AS[5])
|
rs782439562
|
|
NM_005660.3(SLC35A2):c.1068C>T (p.Ser356=)
|
|
|
NM_005660.3(SLC35A2):c.1069G>A (p.Gly357Arg)
|
rs782347244
|
|
NM_005660.3(SLC35A2):c.1069G>C (p.Gly357Arg)
|
|
|
NM_005660.3(SLC35A2):c.1070G>C (p.Gly357Ala)
|
|
|
NM_005660.3(SLC35A2):c.1073C>T (p.Pro358Leu)
|
rs2147485349
|
|
NM_005660.3(SLC35A2):c.1078G>C (p.Val360Leu)
|
|
|
NM_005660.3(SLC35A2):c.1090C>T (p.Pro364Ser)
|
|
|
NM_005660.3(SLC35A2):c.1096G>A (p.Gly366Arg)
|
rs782329380
|
|
NM_005660.3(SLC35A2):c.1096G>T (p.Gly366Trp)
|
rs782329380
|
|
NM_005660.3(SLC35A2):c.1097G>A (p.Gly366Glu)
|
|
|
NM_005660.3(SLC35A2):c.1110A>T (p.Pro370=)
|
|
|
NM_005660.3(SLC35A2):c.1118T>C (p.Leu373Pro)
|
|
|
NM_005660.3(SLC35A2):c.111C>T (p.Tyr37=)
|
|
|
NM_005660.3(SLC35A2):c.1128C>T (p.His376=)
|
|
|
NM_005660.3(SLC35A2):c.112A>T (p.Ile38Leu)
|
rs782268788
|
|
NM_005660.3(SLC35A2):c.1130G>A (p.Arg377His)
|
rs369048466
|
|
NM_005660.3(SLC35A2):c.1130G>C (p.Arg377Pro)
|
rs369048466
|
|
NM_005660.3(SLC35A2):c.1156C>T (p.Leu386=)
|
rs2063474261
|
|
NM_005660.3(SLC35A2):c.1163+16G>T
|
|
|
NM_005660.3(SLC35A2):c.11_16del (p.Val4_Gly5del)
|
|
|
NM_005660.3(SLC35A2):c.128T>C (p.Leu43Pro)
|
rs1602344901
|
|
NM_005660.3(SLC35A2):c.136C>T (p.Gln46Ter)
|
rs2147496735
|
|
NM_005660.3(SLC35A2):c.150C>A (p.Leu50=)
|
|
|
NM_005660.3(SLC35A2):c.167_193del (p.Tyr56_Arg64del)
|
|
|
NM_005660.3(SLC35A2):c.168C>T (p.Tyr56=)
|
|
|
NM_005660.3(SLC35A2):c.179T>C (p.Leu60Ser)
|
|
|
NM_005660.3(SLC35A2):c.187G>A (p.Asp63Asn)
|
rs2147496595
|
|
NM_005660.3(SLC35A2):c.191G>A (p.Arg64His)
|
|
|
NM_005660.3(SLC35A2):c.194T>C (p.Phe65Ser)
|
rs2147496567
|
|
NM_005660.3(SLC35A2):c.1A>G (p.Met1Val)
|
rs1042469070
|
|
NM_005660.3(SLC35A2):c.1A>T (p.Met1Leu)
|
rs1042469070
|
|
NM_005660.3(SLC35A2):c.200C>T (p.Ala67Val)
|
|
|
NM_005660.3(SLC35A2):c.201C>T (p.Ala67=)
|
rs2147496547
|
|
NM_005660.3(SLC35A2):c.21T>G (p.Gly7=)
|
|
|
NM_005660.3(SLC35A2):c.222G>C (p.Ala74=)
|
rs781826333
|
|
NM_005660.3(SLC35A2):c.231C>T (p.Leu77=)
|
|
|
NM_005660.3(SLC35A2):c.233A>G (p.Lys78Arg)
|
rs1569511572
|
|
NM_005660.3(SLC35A2):c.236G>T (p.Gly79Val)
|
rs1057524438
|
|
NM_005660.3(SLC35A2):c.245G>T (p.Cys82Phe)
|
rs1557043622
|
|
NM_005660.3(SLC35A2):c.267G>A (p.Gln89=)
|
|
|
NM_005660.3(SLC35A2):c.274+17G>C
|
|
|
NM_005660.3(SLC35A2):c.274+8C>T
|
|
|
NM_005660.3(SLC35A2):c.275-16TCC[2]
|
rs1364325599
|
|
NM_005660.3(SLC35A2):c.275-19C>G
|
|
|
NM_005660.3(SLC35A2):c.275-9C>A
|
rs2063492138
|
|
NM_005660.3(SLC35A2):c.288C>G (p.His96Gln)
|
|
|
NM_005660.3(SLC35A2):c.292G>A (p.Val98Ile)
|
|
|
NM_005660.3(SLC35A2):c.2T>A (p.Met1Lys)
|
rs1602347908
|
|
NM_005660.3(SLC35A2):c.30C>T (p.Thr10=)
|
|
|
NM_005660.3(SLC35A2):c.31G>T (p.Ala11Ser)
|
rs927789077
|
|
NM_005660.3(SLC35A2):c.321G>A (p.Val107=)
|
|
|
NM_005660.3(SLC35A2):c.327T>C (p.Tyr109=)
|
|
|
NM_005660.3(SLC35A2):c.327T>G (p.Tyr109Ter)
|
rs2147489736
|
|
NM_005660.3(SLC35A2):c.336G>T (p.Thr112=)
|
rs1602340485
|
|
NM_005660.3(SLC35A2):c.340A>T (p.Lys114Ter)
|
rs2063491273
|
|
NM_005660.3(SLC35A2):c.348del (p.Val117fs)
|
rs1557043131
|
|
NM_005660.3(SLC35A2):c.35C>G (p.Ala12Gly)
|
rs1557044100
|
|
NM_005660.3(SLC35A2):c.369C>T (p.Thr123=)
|
rs2147489587
|
|
NM_005660.3(SLC35A2):c.385C>T (p.Gln129Ter)
|
rs2147489558
|
|
NM_005660.3(SLC35A2):c.389_391del (p.Tyr130_Val131delinsPhe)
|
rs1602340350
|
|
NM_005660.3(SLC35A2):c.38C>T (p.Pro13Leu)
|
|
|
NM_005660.3(SLC35A2):c.3G>A (p.Met1Ile)
|
rs587776962
|
|
NM_005660.3(SLC35A2):c.426+12G>A
|
|
|
NM_005660.3(SLC35A2):c.426+16A>G
|
|
|
NM_005660.3(SLC35A2):c.426+1G>A
|
rs2147489491
|
|
NM_005660.3(SLC35A2):c.426+287_775del
|
rs1557042824
|
|
NM_005660.3(SLC35A2):c.427-13G>A
|
|
|
NM_005660.3(SLC35A2):c.427-14C>T
|
|
|
NM_005660.3(SLC35A2):c.433_434del (p.Tyr145fs)
|
rs587777434
|
|
NM_005660.3(SLC35A2):c.439C>T (p.Leu147=)
|
|
|
NM_005660.3(SLC35A2):c.458C>T (p.Ala153Val)
|
|
|
NM_005660.3(SLC35A2):c.468C>T (p.Ser156=)
|
rs782359755
|
|
NM_005660.3(SLC35A2):c.484C>T (p.Arg162Cys)
|
|
|
NM_005660.3(SLC35A2):c.515T>C (p.Leu172Pro)
|
|
|
NM_005660.3(SLC35A2):c.520C>T (p.Leu174Phe)
|
|
|
NM_005660.3(SLC35A2):c.520CTC[1] (p.Leu175del)
|
rs1602338996
|
|
NM_005660.3(SLC35A2):c.523C>T (p.Leu175Phe)
|
rs1283637638
|
|
NM_005660.3(SLC35A2):c.535G>A (p.Val179Ile)
|
rs1060503676
|
|
NM_005660.3(SLC35A2):c.538G>A (p.Ala180Thr)
|
|
|
NM_005660.3(SLC35A2):c.541A>G (p.Ile181Val)
|
|
|
NM_005660.3(SLC35A2):c.568G>A (p.Gly190Arg)
|
|
|
NM_005660.3(SLC35A2):c.571G>A (p.Gly191Ser)
|
|
|
NM_005660.3(SLC35A2):c.577C>A (p.Arg193=)
|
rs1557042895
|
|
NM_005660.3(SLC35A2):c.578G>A (p.Arg193Gln)
|
rs1602338782
|
|
NM_005660.3(SLC35A2):c.579G>A (p.Arg193=)
|
rs1602338773
|
|
NM_005660.3(SLC35A2):c.580C>A (p.Pro194Thr)
|
rs1181948827
|
|
NM_005660.3(SLC35A2):c.595C>G (p.Pro199Ala)
|
|
|
NM_005660.3(SLC35A2):c.601del (p.Ala201fs)
|
rs2147487247
|
|
NM_005660.3(SLC35A2):c.610G>A (p.Ala204Thr)
|
rs2147487234
|
|
NM_005660.3(SLC35A2):c.616G>T (p.Val206Phe)
|
|
|
NM_005660.3(SLC35A2):c.617_620del (p.Val206fs)
|
rs1057518719
|
|
NM_005660.3(SLC35A2):c.618C>T (p.Val206=)
|
|
|
NM_005660.3(SLC35A2):c.619G>A (p.Val207Met)
|
rs782078023
|
|
NM_005660.3(SLC35A2):c.634_635del (p.Ser212fs)
|
rs1602338615
|
|
NM_005660.3(SLC35A2):c.638C>T (p.Ser213Phe)
|
rs587777436
|
|
NM_005660.3(SLC35A2):c.645C>T (p.Phe215=)
|
|
|
NM_005660.3(SLC35A2):c.652G>A (p.Val218Ile)
|
|
|
NM_005660.3(SLC35A2):c.656_660del (p.Val218_Tyr219insTer)
|
rs2147487028
|
|
NM_005660.3(SLC35A2):c.660T>C (p.Phe220=)
|
|
|
NM_005660.3(SLC35A2):c.669C>T (p.Ile223=)
|
|
|
NM_005660.3(SLC35A2):c.66A>C (p.Ala22=)
|
|
|
NM_005660.3(SLC35A2):c.66A>G (p.Ala22=)
|
|
|
NM_005660.3(SLC35A2):c.685G>A (p.Gly229Ser)
|
rs2063481208
|
|
NM_005660.3(SLC35A2):c.68dup (p.Leu23fs)
|
|
|
NM_005660.3(SLC35A2):c.696G>A (p.Trp232Ter)
|
rs868941656
|
|
NM_005660.3(SLC35A2):c.700C>T (p.Arg234Cys)
|
rs2063481027
|
|
NM_005660.3(SLC35A2):c.702C>T (p.Arg234=)
|
|
|
NM_005660.3(SLC35A2):c.718C>T (p.Leu240Phe)
|
|
|
NM_005660.3(SLC35A2):c.724G>A (p.Gly242Ser)
|
rs1557042836
|
|
NM_005660.3(SLC35A2):c.73C>A (p.Pro25Thr)
|
|
|
NM_005660.3(SLC35A2):c.747G>T (p.Gly249=)
|
rs144809041
|
|
NM_005660.3(SLC35A2):c.755G>A (p.Trp252Ter)
|
|
|
NM_005660.3(SLC35A2):c.757G>A (p.Ala253Thr)
|
|
|
NM_005660.3(SLC35A2):c.759T>A (p.Ala253=)
|
|
|
NM_005660.3(SLC35A2):c.769G>A (p.Ala257Thr)
|
rs2063480406
|
|
NM_005660.3(SLC35A2):c.775G>A (p.Ala259Thr)
|
|
|
NM_005660.3(SLC35A2):c.781C>T (p.Arg261Cys)
|
rs1557042814
|
|
NM_005660.3(SLC35A2):c.781del (p.Arg261fs)
|
rs2147486684
|
|
NM_005660.3(SLC35A2):c.782G>A (p.Arg261His)
|
|
|
NM_005660.3(SLC35A2):c.78G>T (p.Gly26=)
|
|
|
NM_005660.3(SLC35A2):c.795dup (p.Gly266fs)
|
|
|
NM_005660.3(SLC35A2):c.800A>G (p.Tyr267Cys)
|
rs869312860
|
|
NM_005660.3(SLC35A2):c.803C>T (p.Thr268Ile)
|
rs2147486594
|
|
NM_005660.3(SLC35A2):c.819C>G (p.Gly273=)
|
|
|
NM_005660.3(SLC35A2):c.825G>C (p.Val275=)
|
|
|
NM_005660.3(SLC35A2):c.831C>T (p.Asn277=)
|
rs1602338152
|
|
NM_005660.3(SLC35A2):c.832C>T (p.Gln278Ter)
|
|
|
NM_005660.3(SLC35A2):c.837_843del (p.Phe280fs)
|
rs2063479086
|
|
NM_005660.3(SLC35A2):c.841G>A (p.Gly281Ser)
|
rs2063479133
|
|
NM_005660.3(SLC35A2):c.842G>T (p.Gly281Val)
|
|
|
NM_005660.3(SLC35A2):c.843C>T (p.Gly281=)
|
|
|
NM_005660.3(SLC35A2):c.844G>A (p.Gly282Arg)
|
rs2063478987
|
|
NM_005660.3(SLC35A2):c.881A>G (p.Asn294Ser)
|
rs1602338059
|
|
NM_005660.3(SLC35A2):c.8C>A (p.Ala3Glu)
|
|
|
NM_005660.3(SLC35A2):c.905C>T (p.Ser302Phe)
|
|
|
NM_005660.3(SLC35A2):c.91+14C>A
|
|
|
NM_005660.3(SLC35A2):c.91+15_91+16insT
|
|
|
NM_005660.3(SLC35A2):c.91+16C>G
|
|
|
NM_005660.3(SLC35A2):c.91+18A>G
|
|
|
NM_005660.3(SLC35A2):c.91+9G>C
|
|
|
NM_005660.3(SLC35A2):c.918_929dup (p.Val310_Ala311insLeuSerThrVal)
|
|
|
NM_005660.3(SLC35A2):c.92-12C>A
|
|
|
NM_005660.3(SLC35A2):c.92-20G>A
|
|
|
NM_005660.3(SLC35A2):c.923C>T (p.Ser308Phe)
|
|
|
NM_005660.3(SLC35A2):c.938T>C (p.Ile313Thr)
|
|
|
NM_005660.3(SLC35A2):c.940C>T (p.Arg314Cys)
|
|
|
NM_005660.3(SLC35A2):c.945C>T (p.Leu315=)
|
|
|
NM_005660.3(SLC35A2):c.947_948del (p.Phe316fs)
|
rs2063477918
|
|
NM_005660.3(SLC35A2):c.955C>T (p.His319Tyr)
|
rs2063477835
|
|
NM_005660.3(SLC35A2):c.962A>G (p.Asp321Gly)
|
|
|
NM_005660.3(SLC35A2):c.972del (p.Phe324fs)
|
rs587777435
|
|
NM_005660.3(SLC35A2):c.989T>C (p.Leu330Pro)
|
rs2063477376
|
|
NM_005660.3(SLC35A2):c.991G>A (p.Val331Ile)
|
rs587776961
|
|
NM_005660.3(SLC35A2):c.991_993del (p.Val331del)
|
rs2063477224
|
|
NM_005660.3(SLC35A2):c.998G>A (p.Gly333Asp)
|
|
|
NM_005660.3(SLC35A2):c.99G>A (p.Arg33=)
|
|
|
NM_005765.3(ATP6AP2):c.1028C>G (p.Thr343Arg)
|
rs2146547270
|
|
NM_005765.3(ATP6AP2):c.212G>A (p.Arg71His)
|
rs1057523485
|
|
NM_005765.3(ATP6AP2):c.293T>C (p.Leu98Ser)
|
rs1926621737
|
|
NM_006302.2(MOGS):c.[329G>A;65C>A]
|
|
|
NM_006302.3(MOGS):c.1009G>A (p.Glu337Lys)
|
|
|
NM_006302.3(MOGS):c.1019G>A (p.Ser340Asn)
|
|
|
NM_006302.3(MOGS):c.1024C>G (p.Gln342Glu)
|
rs893214845
|
|
NM_006302.3(MOGS):c.1026G>A (p.Gln342=)
|
|
|
NM_006302.3(MOGS):c.1043C>T (p.Ala348Val)
|
|
|
NM_006302.3(MOGS):c.1045C>T (p.Leu349=)
|
rs748701808
|
|
NM_006302.3(MOGS):c.1049C>G (p.Pro350Arg)
|
rs754475101
|
|
NM_006302.3(MOGS):c.1074C>G (p.Thr358=)
|
|
|
NM_006302.3(MOGS):c.1083G>A (p.Leu361=)
|
rs564269681
|
|
NM_006302.3(MOGS):c.1108G>A (p.Glu370Lys)
|
|
|
NM_006302.3(MOGS):c.110C>T (p.Pro37Leu)
|
rs984549045
|
|
NM_006302.3(MOGS):c.1142dup (p.Leu383fs)
|
|
|
NM_006302.3(MOGS):c.1153T>C (p.Ser385Pro)
|
rs1225737728
|
|
NM_006302.3(MOGS):c.1158C>A (p.Gly386=)
|
rs372087810
|
|
NM_006302.3(MOGS):c.1164G>C (p.Gln388His)
|
rs781096789
|
|
NM_006302.3(MOGS):c.116G>A (p.Ser39Asn)
|
rs1672032262
|
|
NM_006302.3(MOGS):c.1177G>A (p.Ala393Thr)
|
|
|
NM_006302.3(MOGS):c.1182C>T (p.Ala394=)
|
rs1671955281
|
|
NM_006302.3(MOGS):c.1196T>C (p.Leu399Pro)
|
|
|
NM_006302.3(MOGS):c.1197T>C (p.Leu399=)
|
|
|
NM_006302.3(MOGS):c.11G>A (p.Gly4Asp)
|
|
|
NM_006302.3(MOGS):c.11G>C (p.Gly4Ala)
|
rs1190367079
|
|
NM_006302.3(MOGS):c.1204del (p.Ile402fs)
|
|
|
NM_006302.3(MOGS):c.1205T>C (p.Ile402Thr)
|
rs772354380
|
|
NM_006302.3(MOGS):c.1219G>A (p.Gly407Arg)
|
|
|
NM_006302.3(MOGS):c.1222del (p.Gln408fs)
|
|
|
NM_006302.3(MOGS):c.1225G>A (p.Gly409Arg)
|
|
|
NM_006302.3(MOGS):c.1227G>A (p.Gly409=)
|
rs1316332259
|
|
NM_006302.3(MOGS):c.1234T>C (p.Leu412=)
|
rs1356611470
|
|
NM_006302.3(MOGS):c.123T>G (p.Ala41=)
|
rs2103985769
|
|
NM_006302.3(MOGS):c.1245C>T (p.Ile415=)
|
rs34838944
|
|
NM_006302.3(MOGS):c.1248G>A (p.Gly416=)
|
|
|
NM_006302.3(MOGS):c.1250T>C (p.Val417Ala)
|
|
|
NM_006302.3(MOGS):c.1272G>A (p.Val424=)
|
rs765917880
|
|
NM_006302.3(MOGS):c.1275C>T (p.Asp425=)
|
|
|
NM_006302.3(MOGS):c.1276C>T (p.Pro426Ser)
|
|
|
NM_006302.3(MOGS):c.1279G>T (p.Ala427Ser)
|
rs760745712
|
|
NM_006302.3(MOGS):c.1293C>G (p.Pro431=)
|
rs905902828
|
|
NM_006302.3(MOGS):c.1294G>C (p.Val432Leu)
|
rs552488837
|
|
NM_006302.3(MOGS):c.1294G>T (p.Val432Leu)
|
|
|
NM_006302.3(MOGS):c.1298C>T (p.Pro433Leu)
|
|
|
NM_006302.3(MOGS):c.1317C>T (p.Pro439=)
|
|
|
NM_006302.3(MOGS):c.1337G>A (p.Arg446Gln)
|
|
|
NM_006302.3(MOGS):c.1348T>G (p.Trp450Gly)
|
rs2103979060
|
|
NM_006302.3(MOGS):c.136C>T (p.Leu46=)
|
|
|
NM_006302.3(MOGS):c.1374G>A (p.Val458=)
|
|
|
NM_006302.3(MOGS):c.1383G>A (p.Arg461=)
|
|
|
NM_006302.3(MOGS):c.1385G>A (p.Trp462Ter)
|
rs886349456
|
|
NM_006302.3(MOGS):c.1402C>T (p.Arg468Trp)
|
|
|
NM_006302.3(MOGS):c.1416C>G (p.Gly472=)
|
|
|
NM_006302.3(MOGS):c.1421G>A (p.Trp474Ter)
|
|
|
NM_006302.3(MOGS):c.1422G>A (p.Trp474Ter)
|
rs1671940053
|
|
NM_006302.3(MOGS):c.142G>A (p.Val48Ile)
|
|
|
NM_006302.3(MOGS):c.1445G>C (p.Gly482Ala)
|
|
|
NM_006302.3(MOGS):c.1453G>C (p.Gly485Arg)
|
rs2103978776
|
|
NM_006302.3(MOGS):c.1457G>C (p.Arg486Thr)
|
rs121909291
|
|
NM_006302.3(MOGS):c.1480G>A (p.Ala494Thr)
|
|
|
NM_006302.3(MOGS):c.1497T>A (p.Pro499=)
|
|
|
NM_006302.3(MOGS):c.14A>G (p.Glu5Gly)
|
|
|
NM_006302.3(MOGS):c.150C>G (p.Val50=)
|
|
|
NM_006302.3(MOGS):c.1513C>T (p.Gln505Ter)
|
|
|
NM_006302.3(MOGS):c.1516C>A (p.Arg506=)
|
|
|
NM_006302.3(MOGS):c.151C>T (p.Leu51=)
|
|
|
NM_006302.3(MOGS):c.1520C>T (p.Ala507Val)
|
|
|
NM_006302.3(MOGS):c.1527C>T (p.His509=)
|
|
|
NM_006302.3(MOGS):c.1563T>A (p.His521Gln)
|
rs559593629
|
|
NM_006302.3(MOGS):c.1581C>T (p.Asp527=)
|
|
|
NM_006302.3(MOGS):c.1603C>A (p.Arg535=)
|
|
|
NM_006302.3(MOGS):c.1603C>T (p.Arg535Ter)
|
|
|
NM_006302.3(MOGS):c.1611C>A (p.Ala537=)
|
|
|
NM_006302.3(MOGS):c.1619G>A (p.Arg540His)
|
|
|
NM_006302.3(MOGS):c.161C>T (p.Ala54Val)
|
|
|
NM_006302.3(MOGS):c.1621C>T (p.Leu541=)
|
|
|
NM_006302.3(MOGS):c.1623G>A (p.Leu541=)
|
|
|
NM_006302.3(MOGS):c.1644C>G (p.Leu548=)
|
|
|
NM_006302.3(MOGS):c.1671A>T (p.Pro557=)
|
|
|
NM_006302.3(MOGS):c.1680C>T (p.Tyr560=)
|
rs1558565201
|
|
NM_006302.3(MOGS):c.1681C>T (p.Arg561Cys)
|
|
|
NM_006302.3(MOGS):c.1682G>A (p.Arg561His)
|
|
|
NM_006302.3(MOGS):c.1684T>C (p.Trp562Arg)
|
|
|
NM_006302.3(MOGS):c.1687C>T (p.Arg563Trp)
|
|
|
NM_006302.3(MOGS):c.1695G>A (p.Arg565=)
|
rs2103977961
|
|
NM_006302.3(MOGS):c.1698C>A (p.Asp566Glu)
|
|
|
NM_006302.3(MOGS):c.1698C>T (p.Asp566=)
|
rs748314380
|
|
NM_006302.3(MOGS):c.170T>C (p.Met57Thr)
|
|
|
NM_006302.3(MOGS):c.1723C>T (p.Pro575Ser)
|
rs899025715
|
|
NM_006302.3(MOGS):c.1737C>T (p.Pro579=)
|
|
|
NM_006302.3(MOGS):c.1746G>T (p.Leu582=)
|
|
|
NM_006302.3(MOGS):c.1759C>T (p.Arg587Trp)
|
|
|
NM_006302.3(MOGS):c.1767A>G (p.Ser589=)
|
|
|
NM_006302.3(MOGS):c.1770C>T (p.His590=)
|
rs756776967
|
|
NM_006302.3(MOGS):c.1782C>T (p.Thr594=)
|
|
|
NM_006302.3(MOGS):c.1795G>C (p.Asp599His)
|
|
|
NM_006302.3(MOGS):c.1799_1804delinsGCTCGGTCCAG (p.Leu600fs)
|
rs1572919848
|
|
NM_006302.3(MOGS):c.17G>A (p.Arg6Gln)
|
|
|
NM_006302.3(MOGS):c.1803A>G (p.Arg601=)
|
rs1572919855
|
|
NM_006302.3(MOGS):c.1829T>A (p.Val610Glu)
|
rs2103977576
|
|
NM_006302.3(MOGS):c.1833G>C (p.Leu611=)
|
rs2103977560
|
|
NM_006302.3(MOGS):c.1835C>G (p.Thr612Arg)
|
rs371586378
|
|
NM_006302.3(MOGS):c.1835C>T (p.Thr612Met)
|
rs371586378
|
|
NM_006302.3(MOGS):c.1837C>T (p.Arg613Trp)
|
|
|
NM_006302.3(MOGS):c.1841T>G (p.Leu614Arg)
|
rs930766378
|
|
NM_006302.3(MOGS):c.1845_1846insT (p.Glu616Ter)
|
rs2103977523
|
|
NM_006302.3(MOGS):c.1855G>A (p.Gly619Ser)
|
|
|
NM_006302.3(MOGS):c.1857T>G (p.Gly619=)
|
|
|
NM_006302.3(MOGS):c.1871C>G (p.Ala624Gly)
|
|
|
NM_006302.3(MOGS):c.1880T>C (p.Leu627Pro)
|
rs757997140
|
|
NM_006302.3(MOGS):c.1916G>A (p.Ser639Asn)
|
rs1481203014
|
|
NM_006302.3(MOGS):c.1918C>T (p.Leu640=)
|
|
|
NM_006302.3(MOGS):c.1949G>A (p.Gly650Glu)
|
|
|
NM_006302.3(MOGS):c.1954T>C (p.Phe652Leu)
|
rs121909292
|
|
NM_006302.3(MOGS):c.1961A>G (p.Asp654Gly)
|
rs1572919705
|
|
NM_006302.3(MOGS):c.1961A>T (p.Asp654Val)
|
rs1572919705
|
|
NM_006302.3(MOGS):c.1976C>T (p.Thr659Ile)
|
|
|
NM_006302.3(MOGS):c.1980A>G (p.Lys660=)
|
|
|
NM_006302.3(MOGS):c.1988dup (p.Leu664fs)
|
rs1558564895
|
|
NM_006302.3(MOGS):c.2003C>T (p.Pro668Leu)
|
rs536491124
|
|
NM_006302.3(MOGS):c.2006C>T (p.Pro669Leu)
|
rs368567616
|
|
NM_006302.3(MOGS):c.2010G>A (p.Gln670=)
|
|
|
NM_006302.3(MOGS):c.2011G>T (p.Gly671Trp)
|
|
|
NM_006302.3(MOGS):c.2013G>T (p.Gly671=)
|
|
|
NM_006302.3(MOGS):c.2016C>T (p.Leu672=)
|
|
|
NM_006302.3(MOGS):c.2018T>C (p.Val673Ala)
|
rs1572919630
|
|
NM_006302.3(MOGS):c.2021G>C (p.Arg674Pro)
|
|
|
NM_006302.3(MOGS):c.2021G>T (p.Arg674Leu)
|
rs200966949
|
|
NM_006302.3(MOGS):c.2033G>A (p.Arg678Gln)
|
rs776932912
|
|
NM_006302.3(MOGS):c.2033G>T (p.Arg678Leu)
|
rs776932912
|
|
NM_006302.3(MOGS):c.2049G>A (p.Leu683=)
|
rs1671910874
|
|
NM_006302.3(MOGS):c.2051A>C (p.Gln684Pro)
|
|
|
NM_006302.3(MOGS):c.2088C>T (p.Pro696=)
|
rs2103976808
|
|
NM_006302.3(MOGS):c.208C>G (p.Arg70Gly)
|
|
|
NM_006302.3(MOGS):c.208C>T (p.Arg70Trp)
|
rs1022588391
|
|
NM_006302.3(MOGS):c.2090T>C (p.Leu697Ser)
|
rs1382859530
|
|
NM_006302.3(MOGS):c.2097G>T (p.Leu699=)
|
|
|
NM_006302.3(MOGS):c.2099G>A (p.Arg700Gln)
|
|
|
NM_006302.3(MOGS):c.2101C>T (p.Leu701=)
|
|
|
NM_006302.3(MOGS):c.2115C>T (p.Thr705=)
|
|
|
NM_006302.3(MOGS):c.2122C>T (p.Arg708Cys)
|
|
|
NM_006302.3(MOGS):c.2124C>T (p.Arg708=)
|
|
|
NM_006302.3(MOGS):c.2154C>A (p.Asp718Glu)
|
rs1671907085
|
|
NM_006302.3(MOGS):c.2154C>T (p.Asp718=)
|
rs1671907085
|
|
NM_006302.3(MOGS):c.2157C>A (p.Ser719Arg)
|
rs1671907003
|
|
NM_006302.3(MOGS):c.2160C>T (p.Arg720=)
|
|
|
NM_006302.3(MOGS):c.216C>T (p.Val72=)
|
|
|
NM_006302.3(MOGS):c.2185C>G (p.Arg729Gly)
|
rs777010548
|
|
NM_006302.3(MOGS):c.2190C>T (p.Ser730=)
|
rs2103976465
|
|
NM_006302.3(MOGS):c.2196A>G (p.Ala732=)
|
rs1053860958
|
|
NM_006302.3(MOGS):c.2199C>A (p.Ala733=)
|
rs1671905626
|
|
NM_006302.3(MOGS):c.2205C>T (p.Ser735=)
|
|
|
NM_006302.3(MOGS):c.2211T>C (p.Phe737=)
|
rs2103976387
|
|
NM_006302.3(MOGS):c.2213A>G (p.Tyr738Cys)
|
|
|
NM_006302.3(MOGS):c.2217C>T (p.Gly739=)
|
|
|
NM_006302.3(MOGS):c.2224A>C (p.Asn742His)
|
rs1283895621
|
|
NM_006302.3(MOGS):c.2227T>G (p.Ser743Ala)
|
rs1671904864
|
|
NM_006302.3(MOGS):c.2228C>G (p.Ser743Ter)
|
|
|
NM_006302.3(MOGS):c.2235T>C (p.His745=)
|
|
|
NM_006302.3(MOGS):c.2252G>A (p.Arg751Gln)
|
|
|
NM_006302.3(MOGS):c.2264G>T (p.Trp755Leu)
|
rs1461055157
|
|
NM_006302.3(MOGS):c.2283G>A (p.Leu761=)
|
|
|
NM_006302.3(MOGS):c.2298C>T (p.Leu766=)
|
rs2103976144
|
|
NM_006302.3(MOGS):c.2305T>C (p.Tyr769His)
|
|
|
NM_006302.3(MOGS):c.231G>C (p.Ala77=)
|
|
|
NM_006302.3(MOGS):c.2321G>T (p.Gly774Val)
|
|
|
NM_006302.3(MOGS):c.2332G>A (p.Ala778Thr)
|
|
|
NM_006302.3(MOGS):c.2346A>G (p.Lys782=)
|
|
|
NM_006302.3(MOGS):c.2352C>T (p.His784=)
|
|
|
NM_006302.3(MOGS):c.2361C>T (p.Leu787=)
|
|
|
NM_006302.3(MOGS):c.2375T>C (p.Val792Ala)
|
rs757464083
|
|
NM_006302.3(MOGS):c.237T>A (p.Pro79=)
|
|
|
NM_006302.3(MOGS):c.2398C>T (p.Gln800Ter)
|
rs753261712
|
|
NM_006302.3(MOGS):c.2422C>A (p.Gln808Lys)
|
rs995479690
|
|
NM_006302.3(MOGS):c.2422C>T (p.Gln808Ter)
|
|
|
NM_006302.3(MOGS):c.2458C>T (p.Arg820Cys)
|
|
|
NM_006302.3(MOGS):c.2469C>T (p.His823=)
|
|
|
NM_006302.3(MOGS):c.2471G>A (p.Gly824Asp)
|
|
|
NM_006302.3(MOGS):c.2476A>G (p.Thr826Ala)
|
rs1558564232
|
|
NM_006302.3(MOGS):c.2493G>A (p.Leu831=)
|
|
|
NM_006302.3(MOGS):c.2500del (p.Ala834fs)
|
rs1296169573
|
|
NM_006302.3(MOGS):c.2513G>T (p.Ter838Leu)
|
rs201823585
|
|
NM_006302.3(MOGS):c.262C>A (p.Pro88Thr)
|
rs866878210
|
|
NM_006302.3(MOGS):c.273C>T (p.Ala91=)
|
|
|
NM_006302.3(MOGS):c.287G>A (p.Trp96Ter)
|
rs781577192
|
|
NM_006302.3(MOGS):c.290G>A (p.Gly97Glu)
|
rs1572922297
|
|
NM_006302.3(MOGS):c.294C>T (p.Thr98=)
|
rs1369717520
|
|
NM_006302.3(MOGS):c.301C>T (p.Pro101Ser)
|
rs2103985234
|
|
NM_006302.3(MOGS):c.306C>T (p.His102=)
|
rs1042788823
|
|
NM_006302.3(MOGS):c.311A>C (p.Tyr104Ser)
|
rs1553380245
|
|
NM_006302.3(MOGS):c.342C>G (p.Pro114=)
|
|
|
NM_006302.3(MOGS):c.344T>A (p.Leu115His)
|
rs1265589563
|
|
NM_006302.3(MOGS):c.352+18C>T
|
|
|
NM_006302.3(MOGS):c.352+9G>A
|
|
|
NM_006302.3(MOGS):c.353-1G>A
|
|
|
NM_006302.3(MOGS):c.354A>T (p.Gly118=)
|
|
|
NM_006302.3(MOGS):c.35C>T (p.Pro12Leu)
|
|
|
NM_006302.3(MOGS):c.36G>A (p.Pro12=)
|
|
|
NM_006302.3(MOGS):c.37G>T (p.Ala13Ser)
|
rs1187849918
|
|
NM_006302.3(MOGS):c.400A>G (p.Arg134Gly)
|
rs1672015747
|
|
NM_006302.3(MOGS):c.400A>T (p.Arg134Trp)
|
|
|
NM_006302.3(MOGS):c.406A>T (p.Thr136Ser)
|
|
|
NM_006302.3(MOGS):c.410G>A (p.Cys137Tyr)
|
rs762952481
|
|
NM_006302.3(MOGS):c.417G>C (p.Gln139His)
|
rs1672015268
|
|
NM_006302.3(MOGS):c.418G>A (p.Gly140Arg)
|
|
|
NM_006302.3(MOGS):c.41A>T (p.Glu14Val)
|
|
|
NM_006302.3(MOGS):c.422del (p.Asp141fs)
|
|
|
NM_006302.3(MOGS):c.434C>T (p.Pro145Leu)
|
|
|
NM_006302.3(MOGS):c.448T>C (p.Phe150Leu)
|
rs780436912
|
|
NM_006302.3(MOGS):c.454G>C (p.Asp152His)
|
|
|
NM_006302.3(MOGS):c.455dup (p.Asp152fs)
|
|
|
NM_006302.3(MOGS):c.476A>C (p.Gln159Pro)
|
|
|
NM_006302.3(MOGS):c.477A>G (p.Gln159=)
|
|
|
NM_006302.3(MOGS):c.478C>T (p.His160Tyr)
|
|
|
NM_006302.3(MOGS):c.480C>G (p.His160Gln)
|
rs1303532263
|
|
NM_006302.3(MOGS):c.504C>G (p.Leu168=)
|
rs767637528
|
|
NM_006302.3(MOGS):c.513G>A (p.Glu171=)
|
rs2103984176
|
|
NM_006302.3(MOGS):c.516C>T (p.Phe172=)
|
|
|
NM_006302.3(MOGS):c.532G>A (p.Gly178Ser)
|
rs1214300593
|
|
NM_006302.3(MOGS):c.546G>A (p.Gly182=)
|
rs367819963
|
|
NM_006302.3(MOGS):c.54dup (p.Ala19fs)
|
|
|
NM_006302.3(MOGS):c.551G>A (p.Trp184Ter)
|
|
|
NM_006302.3(MOGS):c.562G>A (p.Val188Met)
|
rs746611980
|
|
NM_006302.3(MOGS):c.564G>C (p.Val188=)
|
|
|
NM_006302.3(MOGS):c.568G>A (p.Val190Ile)
|
|
|
NM_006302.3(MOGS):c.573G>A (p.Glu191=)
|
|
|
NM_006302.3(MOGS):c.579+18C>T
|
|
|
NM_006302.3(MOGS):c.579+19C>T
|
rs2103983947
|
|
NM_006302.3(MOGS):c.580-16C>G
|
|
|
NM_006302.3(MOGS):c.580-19G>T
|
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|
NM_006302.3(MOGS):c.580-27_580-18del
|
rs748839262
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NM_006302.3(MOGS):c.595G>A (p.Ala199Thr)
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|
|
NM_006302.3(MOGS):c.602C>T (p.Pro201Leu)
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NM_006302.3(MOGS):c.609C>A (p.Val203=)
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NM_006302.3(MOGS):c.615G>A (p.Leu205=)
|
rs2103981798
|
|
NM_006302.3(MOGS):c.617TCT[1] (p.Phe207del)
|
rs1671983338
|
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NM_006302.3(MOGS):c.630G>A (p.Val210=)
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|
|
NM_006302.3(MOGS):c.660G>C (p.Glu220Asp)
|
rs759959086
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NM_006302.3(MOGS):c.662T>C (p.Val221Ala)
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NM_006302.3(MOGS):c.671A>C (p.Lys224Thr)
|
rs1671981391
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NM_006302.3(MOGS):c.676C>A (p.Gln226Lys)
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NM_006302.3(MOGS):c.692G>T (p.Ser231Ile)
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NM_006302.3(MOGS):c.704G>A (p.Ser235Asn)
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NM_006302.3(MOGS):c.712G>C (p.Gly238Arg)
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NM_006302.3(MOGS):c.71G>C (p.Arg24Pro)
|
rs750801906
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NM_006302.3(MOGS):c.737C>T (p.Pro246Leu)
|
rs1671978796
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|
NM_006302.3(MOGS):c.752G>A (p.Gly251Glu)
|
rs2103981412
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NM_006302.3(MOGS):c.755A>T (p.Asp252Val)
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NM_006302.3(MOGS):c.758C>T (p.Thr253Ile)
|
rs2103981399
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NM_006302.3(MOGS):c.760G>A (p.Ala254Thr)
|
rs752804401
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|
NM_006302.3(MOGS):c.762C>T (p.Ala254=)
|
rs1469560105
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NM_006302.3(MOGS):c.767A>C (p.Lys256Thr)
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NM_006302.3(MOGS):c.776+20G>A
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NM_006302.3(MOGS):c.776+9G>A
|
rs766902133
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NM_006302.3(MOGS):c.777-18dup
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NM_006302.3(MOGS):c.777-7C>G
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NM_006302.3(MOGS):c.777-8C>A
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rs780530394
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NM_006302.3(MOGS):c.78C>G (p.Gly26=)
|
rs1428639603
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NM_006302.3(MOGS):c.7C>G (p.Arg3Gly)
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NM_006302.3(MOGS):c.7C>T (p.Arg3Trp)
|
rs1246940304
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NM_006302.3(MOGS):c.800A>C (p.Asn267Thr)
|
rs1671971903
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NM_006302.3(MOGS):c.810G>T (p.Leu270=)
|
rs1284777296
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NM_006302.3(MOGS):c.816G>C (p.Leu272=)
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NM_006302.3(MOGS):c.81C>G (p.Pro27=)
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NM_006302.3(MOGS):c.828G>A (p.Met276Ile)
|
rs1558566109
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NM_006302.3(MOGS):c.82G>T (p.Gly28Trp)
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NM_006302.3(MOGS):c.831A>G (p.Val277=)
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NM_006302.3(MOGS):c.832_833del (p.Lys278fs)
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NM_006302.3(MOGS):c.839G>C (p.Arg280Pro)
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NM_006302.3(MOGS):c.83G>A (p.Gly28Glu)
|
rs2103986028
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NM_006302.3(MOGS):c.867C>T (p.Pro289=)
|
rs750782882
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NM_006302.3(MOGS):c.874G>C (p.Ala292Pro)
|
rs763544524
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NM_006302.3(MOGS):c.874G>T (p.Ala292Ser)
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NM_006302.3(MOGS):c.876C>A (p.Ala292=)
|
rs531051730
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NM_006302.3(MOGS):c.876C>T (p.Ala292=)
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|
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NM_006302.3(MOGS):c.880C>G (p.Pro294Ala)
|
rs548283434
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NM_006302.3(MOGS):c.881del (p.Pro294fs)
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NM_006302.3(MOGS):c.884A>G (p.Glu295Gly)
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NM_006302.3(MOGS):c.896G>T (p.Gly299Val)
|
rs2103980536
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NM_006302.3(MOGS):c.89G>C (p.Arg30Pro)
|
rs1257979415
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NM_006302.3(MOGS):c.900G>T (p.Leu300Phe)
|
rs886745696
|
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NM_006302.3(MOGS):c.905G>A (p.Gly302Glu)
|
rs781577738
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NM_006302.3(MOGS):c.906A>G (p.Gly302=)
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NM_006302.3(MOGS):c.90G>A (p.Arg30=)
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NM_006302.3(MOGS):c.918G>A (p.Trp306Ter)
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NM_006302.3(MOGS):c.925A>G (p.Arg309Gly)
|
rs1558565949
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NM_006302.3(MOGS):c.937G>A (p.Gly313Arg)
|
rs2103980326
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NM_006302.3(MOGS):c.939G>A (p.Gly313=)
|
rs2103980315
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NM_006302.3(MOGS):c.944G>A (p.Gly315Glu)
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NM_006302.3(MOGS):c.947A>T (p.Gln316Leu)
|
rs1553379896
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NM_006302.3(MOGS):c.949G>A (p.Gly317Arg)
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NM_006302.3(MOGS):c.94_95insTCCG (p.Gly32fs)
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NM_006302.3(MOGS):c.950G>A (p.Gly317Glu)
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NM_006302.3(MOGS):c.97C>A (p.Arg33=)
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NM_006302.3(MOGS):c.992C>T (p.Ser331Phe)
|
rs1572920656
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NM_006348.3(COG5):c.57T>C (p.Arg19=)
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NM_006348.3(COG5):c.59_61CTG[2] (p.Ala22del)
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NM_006348.3(COG5):c.62C>G (p.Ala21Gly)
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NM_006348.3(COG5):c.66T>C (p.Ala22=)
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NM_006348.3(COG5):c.69C>A (p.Asp23Glu)
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NM_006348.5(COG5):c.*165C>T
|
rs1798496835
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NM_006348.5(COG5):c.*220G>A
|
rs1281689688
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NM_006348.5(COG5):c.*237T>C
|
rs577491628
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NM_006348.5(COG5):c.*306C>A
|
rs1798486114
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NM_006348.5(COG5):c.*468C>A
|
rs886061871
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NM_006348.5(COG5):c.*498T>G
|
rs1798468428
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|
NM_006348.5(COG5):c.*52G>A
|
rs937117794
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NM_006348.5(COG5):c.*589G>A
|
rs1422526244
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NM_006348.5(COG5):c.*612G>A
|
rs6958137
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|
NM_006348.5(COG5):c.*612G>C
|
rs6958137
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NM_006348.5(COG5):c.*862C>G
|
rs1258415041
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NM_006348.5(COG5):c.-12G>A
|
rs1363800282
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NM_006348.5(COG5):c.-13G>T
|
rs915925086
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NM_006348.5(COG5):c.-1C>G
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|
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NM_006348.5(COG5):c.-20T>A
|
rs762377555
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NM_006348.5(COG5):c.-2A>C
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NM_006348.5(COG5):c.-8C>T
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NM_006348.5(COG5):c.-9C>T
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NM_006348.5(COG5):c.1014A>G (p.Glu338=)
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NM_006348.5(COG5):c.1015G>T (p.Glu339Ter)
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NM_006348.5(COG5):c.1021G>A (p.Val341Ile)
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NM_006348.5(COG5):c.1026+12G>A
|
rs1474242413
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NM_006348.5(COG5):c.1026+17A>G
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NM_006348.5(COG5):c.1027-11G>A
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NM_006348.5(COG5):c.1027-12T>C
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|
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NM_006348.5(COG5):c.1027-16del
|
rs1165979060
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NM_006348.5(COG5):c.1027-17T>C
|
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NM_006348.5(COG5):c.1027G>T (p.Asp343Tyr)
|
rs1240588560
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NM_006348.5(COG5):c.1055T>C (p.Phe352Ser)
|
rs2129027601
|
|
NM_006348.5(COG5):c.1069A>G (p.Thr357Ala)
|
rs1809589810
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NM_006348.5(COG5):c.1072C>G (p.Gln358Glu)
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|
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NM_006348.5(COG5):c.1078C>G (p.Leu360Val)
|
rs762031095
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NM_006348.5(COG5):c.1078C>T (p.Leu360Phe)
|
rs762031095
|
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NM_006348.5(COG5):c.107A>G (p.Asp36Gly)
|
rs1385437505
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|
NM_006348.5(COG5):c.1089A>G (p.Gln363=)
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NM_006348.5(COG5):c.1097T>C (p.Met366Thr)
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NM_006348.5(COG5):c.1108+10C>G
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NM_006348.5(COG5):c.1108+11T>C
|
|
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NM_006348.5(COG5):c.1108+13C>T
|
rs772490075
|
|
NM_006348.5(COG5):c.1109-18T>C
|
|
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NM_006348.5(COG5):c.1109-4G>A
|
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NM_006348.5(COG5):c.1115_1123del (p.Met372_Leu374del)
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|
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NM_006348.5(COG5):c.1126C>G (p.Gln376Glu)
|
rs775852402
|
|
NM_006348.5(COG5):c.115A>G (p.Asn39Asp)
|
|
|
NM_006348.5(COG5):c.1165T>C (p.Tyr389His)
|
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NM_006348.5(COG5):c.1170T>C (p.Asn390=)
|
rs1414561536
|
|
NM_006348.5(COG5):c.1179G>A (p.Trp393Ter)
|
rs2116916717
|
|
NM_006348.5(COG5):c.1179del (p.Leu392_Trp393insTer)
|
|
|
NM_006348.5(COG5):c.118G>A (p.Glu40Lys)
|
rs781059953
|
|
NM_006348.5(COG5):c.1192C>T (p.Gln398Ter)
|
|
|
NM_006348.5(COG5):c.1195T>C (p.Tyr399His)
|
|
|
NM_006348.5(COG5):c.1196A>G (p.Tyr399Cys)
|
|
|
NM_006348.5(COG5):c.1197C>A (p.Tyr399Ter)
|
rs1186766555
|
|
NM_006348.5(COG5):c.1224T>C (p.Asn408=)
|
|
|
NM_006348.5(COG5):c.1225G>A (p.Ala409Thr)
|
|
|
NM_006348.5(COG5):c.1227A>G (p.Ala409=)
|
|
|
NM_006348.5(COG5):c.1237A>G (p.Thr413Ala)
|
|
|
NM_006348.5(COG5):c.1239A>G (p.Thr413=)
|
|
|
NM_006348.5(COG5):c.1239A>T (p.Thr413=)
|
|
|
NM_006348.5(COG5):c.1248T>G (p.Tyr416Ter)
|
|
|
NM_006348.5(COG5):c.1264A>G (p.Met422Val)
|
|
|
NM_006348.5(COG5):c.1266G>C (p.Met422Ile)
|
rs778784886
|
|
NM_006348.5(COG5):c.1281A>G (p.Gln427=)
|
|
|
NM_006348.5(COG5):c.1284T>C (p.Asp428=)
|
|
|
NM_006348.5(COG5):c.1294C>T (p.Pro432Ser)
|
|
|
NM_006348.5(COG5):c.12C>T (p.Gly4=)
|
rs1222798933
|
|
NM_006348.5(COG5):c.1302G>A (p.Lys434=)
|
rs200021706
|
|
NM_006348.5(COG5):c.1302G>T (p.Lys434Asn)
|
rs200021706
|
|
NM_006348.5(COG5):c.1304C>G (p.Pro435Arg)
|
|
|
NM_006348.5(COG5):c.1305A>G (p.Pro435=)
|
rs929845700
|
|
NM_006348.5(COG5):c.1306G>A (p.Asp436Asn)
|
|
|
NM_006348.5(COG5):c.1310A>T (p.Tyr437Phe)
|
rs2116915449
|
|
NM_006348.5(COG5):c.1313+14A>G
|
|
|
NM_006348.5(COG5):c.1313+4T>C
|
|
|
NM_006348.5(COG5):c.1313_1313+5del
|
|
|
NM_006348.5(COG5):c.1314-15dup
|
|
|
NM_006348.5(COG5):c.1314-4A>G
|
rs2116814535
|
|
NM_006348.5(COG5):c.1314-6C>A
|
|
|
NM_006348.5(COG5):c.1326T>A (p.Ala442=)
|
|
|
NM_006348.5(COG5):c.1340T>G (p.Leu447Arg)
|
|
|
NM_006348.5(COG5):c.1341A>G (p.Leu447=)
|
|
|
NM_006348.5(COG5):c.1344A>G (p.Gln448=)
|
rs777072585
|
|
NM_006348.5(COG5):c.1350T>C (p.Tyr450=)
|
rs1805375974
|
|
NM_006348.5(COG5):c.1353G>A (p.Glu451=)
|
|
|
NM_006348.5(COG5):c.1365A>G (p.Leu455=)
|
|
|
NM_006348.5(COG5):c.137C>T (p.Thr46Ile)
|
rs542344548
|
|
NM_006348.5(COG5):c.1410dup (p.Pro471fs)
|
|
|
NM_006348.5(COG5):c.1412C>T (p.Pro471Leu)
|
rs2116813555
|
|
NM_006348.5(COG5):c.1415dup (p.Gly474fs)
|
rs773281248
|
|
NM_006348.5(COG5):c.1417G>A (p.Gly473Ser)
|
|
|
NM_006348.5(COG5):c.1421G>T (p.Gly474Val)
|
|
|
NM_006348.5(COG5):c.1430C>G (p.Pro477Arg)
|
rs1805365099
|
|
NM_006348.5(COG5):c.1450G>C (p.Asp484His)
|
|
|
NM_006348.5(COG5):c.1471G>A (p.Ala491Thr)
|
|
|
NM_006348.5(COG5):c.1475+3A>G
|
|
|
NM_006348.5(COG5):c.1476-14T>G
|
|
|
NM_006348.5(COG5):c.1476-19C>T
|
rs562431916
|
|
NM_006348.5(COG5):c.1476-4C>T
|
|
|
NM_006348.5(COG5):c.1476-7dup
|
rs774912830
|
|
NM_006348.5(COG5):c.1482A>G (p.Leu494=)
|
|
|
NM_006348.5(COG5):c.1485T>C (p.Asn495=)
|
|
|
NM_006348.5(COG5):c.150A>G (p.Gln50=)
|
|
|
NM_006348.5(COG5):c.1511C>T (p.Thr504Ile)
|
|
|
NM_006348.5(COG5):c.1534G>A (p.Ala512Thr)
|
|
|
NM_006348.5(COG5):c.1539G>C (p.Lys513Asn)
|
rs1805147503
|
|
NM_006348.5(COG5):c.1541C>T (p.Thr514Ile)
|
rs2116796211
|
|
NM_006348.5(COG5):c.1552T>C (p.Tyr518His)
|
rs776229547
|
|
NM_006348.5(COG5):c.1554C>T (p.Tyr518=)
|
|
|
NM_006348.5(COG5):c.1556G>C (p.Ser519Thr)
|
rs2116796050
|
|
NM_006348.5(COG5):c.1558G>A (p.Val520Ile)
|
rs2116795993
|
|
NM_006348.5(COG5):c.1561A>G (p.Lys521Glu)
|
rs768443334
|
|
NM_006348.5(COG5):c.1566A>G (p.Ser522=)
|
|
|
NM_006348.5(COG5):c.1570C>T (p.Gln524Ter)
|
|
|
NM_006348.5(COG5):c.1575+13_1575+16del
|
|
|
NM_006348.5(COG5):c.1576-15A>G
|
rs1562937199
|
|
NM_006348.5(COG5):c.1576-3C>T
|
|
|
NM_006348.5(COG5):c.1581C>T (p.Ser527=)
|
|
|
NM_006348.5(COG5):c.1588G>A (p.Gly530Arg)
|
|
|
NM_006348.5(COG5):c.15C>T (p.Gly5=)
|
rs202123650
|
|
NM_006348.5(COG5):c.1602G>A (p.Gln534=)
|
rs759544719
|
|
NM_006348.5(COG5):c.1602G>C (p.Gln534His)
|
rs759544719
|
|
NM_006348.5(COG5):c.1603G>T (p.Val535Leu)
|
rs2116623874
|
|
NM_006348.5(COG5):c.1627C>T (p.Gln543Ter)
|
rs778187974
|
|
NM_006348.5(COG5):c.1640T>C (p.Val547Ala)
|
|
|
NM_006348.5(COG5):c.1642G>A (p.Ala548Thr)
|
rs1219441965
|
|
NM_006348.5(COG5):c.165T>C (p.Ala55=)
|
rs2129179500
|
|
NM_006348.5(COG5):c.1663A>G (p.Lys555Glu)
|
rs145616048
|
|
NM_006348.5(COG5):c.166G>A (p.Val56Ile)
|
|
|
NM_006348.5(COG5):c.1671C>A (p.His557Gln)
|
|
|
NM_006348.5(COG5):c.1673A>G (p.Gln558Arg)
|
|
|
NM_006348.5(COG5):c.1674A>C (p.Gln558His)
|
|
|
NM_006348.5(COG5):c.1686+10_1686+14del
|
|
|
NM_006348.5(COG5):c.1686+12A>G
|
rs753411527
|
|
NM_006348.5(COG5):c.1686+13T>C
|
rs2116623196
|
|
NM_006348.5(COG5):c.1686+17G>T
|
|
|
NM_006348.5(COG5):c.1686+20T>G
|
|
|
NM_006348.5(COG5):c.1686+2T>G
|
rs2116623273
|
|
NM_006348.5(COG5):c.1686+3A>G
|
|
|
NM_006348.5(COG5):c.1686G>A (p.Lys562=)
|
|
|
NM_006348.5(COG5):c.1687-7G>A
|
rs1265604878
|
|
NM_006348.5(COG5):c.1694C>T (p.Ser565Phe)
|
|
|
NM_006348.5(COG5):c.1695C>T (p.Ser565=)
|
|
|
NM_006348.5(COG5):c.1719A>G (p.Ala573=)
|
rs1802913835
|
|
NM_006348.5(COG5):c.1724A>T (p.Glu575Val)
|
|
|
NM_006348.5(COG5):c.1736T>C (p.Ile579Thr)
|
rs753306021
|
|
NM_006348.5(COG5):c.1744C>G (p.Leu582Val)
|
|
|
NM_006348.5(COG5):c.1746A>G (p.Leu582=)
|
|
|
NM_006348.5(COG5):c.1748A>G (p.Lys583Arg)
|
rs1198193243
|
|
NM_006348.5(COG5):c.1749+7G>T
|
|
|
NM_006348.5(COG5):c.1750-13T>A
|
|
|
NM_006348.5(COG5):c.1750-19del
|
|
|
NM_006348.5(COG5):c.1750-20T>G
|
|
|
NM_006348.5(COG5):c.1750-20dup
|
rs763434588
|
|
NM_006348.5(COG5):c.1750-3del
|
|
|
NM_006348.5(COG5):c.1750-3dup
|
rs746706902
|
|
NM_006348.5(COG5):c.1766T>A (p.Met589Lys)
|
rs777200785
|
|
NM_006348.5(COG5):c.1773T>C (p.Asn591=)
|
rs1261977502
|
|
NM_006348.5(COG5):c.1776T>A (p.Ala592=)
|
|
|
NM_006348.5(COG5):c.1779G>T (p.Val593=)
|
rs2116550198
|
|
NM_006348.5(COG5):c.1783C>A (p.Pro595Thr)
|
rs1802220416
|
|
NM_006348.5(COG5):c.1783C>G (p.Pro595Ala)
|
rs1802220416
|
|
NM_006348.5(COG5):c.178C>A (p.Gln60Lys)
|
|
|
NM_006348.5(COG5):c.1791_1794del (p.Thr598fs)
|
rs771651520
|
|
NM_006348.5(COG5):c.1792A>C (p.Thr598Pro)
|
|
|
NM_006348.5(COG5):c.1808C>T (p.Ala603Val)
|
|
|
NM_006348.5(COG5):c.180A>G (p.Gln60=)
|
rs1803456564
|
|
NM_006348.5(COG5):c.1831A>G (p.Met611Val)
|
|
|
NM_006348.5(COG5):c.1839A>G (p.Gln613=)
|
|
|
NM_006348.5(COG5):c.1841A>G (p.Glu614Gly)
|
|
|
NM_006348.5(COG5):c.1854-16G>A
|
|
|
NM_006348.5(COG5):c.1869A>G (p.Ser623=)
|
|
|
NM_006348.5(COG5):c.1869A>T (p.Ser623=)
|
rs200289261
|
|
NM_006348.5(COG5):c.1896G>A (p.Leu632=)
|
|
|
NM_006348.5(COG5):c.18C>T (p.Gly6=)
|
rs776167636
|
|
NM_006348.5(COG5):c.1900A>T (p.Met634Leu)
|
rs746657630
|
|
NM_006348.5(COG5):c.1901T>C (p.Met634Thr)
|
rs1038024684
|
|
NM_006348.5(COG5):c.1902_1904delinsCTT (p.Met634_Lys635delinsIleLeu)
|
|
|
NM_006348.5(COG5):c.1911A>G (p.Leu637=)
|
|
|
NM_006348.5(COG5):c.1914A>G (p.Gln638=)
|
|
|
NM_006348.5(COG5):c.1916G>A (p.Gly639Asp)
|
rs757204685
|
|
NM_006348.5(COG5):c.1916G>T (p.Gly639Val)
|
|
|
NM_006348.5(COG5):c.192T>C (p.Leu64=)
|
|
|
NM_006348.5(COG5):c.193G>T (p.Ala65Ser)
|
|
|
NM_006348.5(COG5):c.1952A>C (p.His651Pro)
|
|
|
NM_006348.5(COG5):c.1993A>G (p.Ile665Val)
|
rs1262175069
|
|
NM_006348.5(COG5):c.1A>G (p.Met1Val)
|
rs1804241289
|
|
NM_006348.5(COG5):c.2030C>A (p.Ala677Asp)
|
rs778785040
|
|
NM_006348.5(COG5):c.2038A>G (p.Ile680Val)
|
|
|
NM_006348.5(COG5):c.2038A>T (p.Ile680Leu)
|
rs777624204
|
|
NM_006348.5(COG5):c.2056G>C (p.Gly686Arg)
|
rs2116455775
|
|
NM_006348.5(COG5):c.2067G>T (p.Met689Ile)
|
rs2116455716
|
|
NM_006348.5(COG5):c.2068C>T (p.Arg690Ter)
|
|
|
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.2091+4_2091+11del
|
|
|
NM_006348.5(COG5):c.2091+6T>C
|
|
|
NM_006348.5(COG5):c.2092-15A>G
|
|
|
NM_006348.5(COG5):c.2092-17A>G
|
|
|
NM_006348.5(COG5):c.2098T>C (p.Leu700=)
|
rs757640217
|
|
NM_006348.5(COG5):c.2101G>A (p.Ala701Thr)
|
rs2116403733
|
|
NM_006348.5(COG5):c.2104G>C (p.Val702Leu)
|
rs398124222
|
|
NM_006348.5(COG5):c.2112A>C (p.Pro704=)
|
|
|
NM_006348.5(COG5):c.2112A>G (p.Pro704=)
|
|
|
NM_006348.5(COG5):c.2115C>T (p.Phe705=)
|
|
|
NM_006348.5(COG5):c.2129_2131del (p.Ser710_Asp711delinsTyr)
|
rs2116403276
|
|
NM_006348.5(COG5):c.2151G>C (p.Arg717=)
|
|
|
NM_006348.5(COG5):c.2152A>T (p.Met718Leu)
|
rs113517604
|
|
NM_006348.5(COG5):c.2167del (p.Arg723fs)
|
rs2116402799
|
|
NM_006348.5(COG5):c.2168+2T>A
|
|
|
NM_006348.5(COG5):c.2168+8C>A
|
|
|
NM_006348.5(COG5):c.2168G>A (p.Arg723Lys)
|
|
|
NM_006348.5(COG5):c.2169-10del
|
rs763138814
|
|
NM_006348.5(COG5):c.2169-17_2169-16del
|
|
|
NM_006348.5(COG5):c.2175G>A (p.Leu725=)
|
|
|
NM_006348.5(COG5):c.2186C>G (p.Ala729Gly)
|
|
|
NM_006348.5(COG5):c.2194C>T (p.His732Tyr)
|
rs746743097
|
|
NM_006348.5(COG5):c.2196T>C (p.His732=)
|
|
|
NM_006348.5(COG5):c.2202C>T (p.Ala734=)
|
|
|
NM_006348.5(COG5):c.2204G>T (p.Ser735Ile)
|
rs150808289
|
|
NM_006348.5(COG5):c.220G>T (p.Glu74Ter)
|
rs1803451815
|
|
NM_006348.5(COG5):c.2214A>T (p.Ala738=)
|
|
|
NM_006348.5(COG5):c.2215T>A (p.Leu739Met)
|
rs374796275
|
|
NM_006348.5(COG5):c.2219G>A (p.Gly740Glu)
|
|
|
NM_006348.5(COG5):c.2221G>C (p.Asp741His)
|
rs114023726
|
|
NM_006348.5(COG5):c.2234dup (p.Ser746fs)
|
rs2116202376
|
|
NM_006348.5(COG5):c.2241C>T (p.Ile747=)
|
|
|
NM_006348.5(COG5):c.2242ATT[3] (p.Ile749dup)
|
rs751641438
|
|
NM_006348.5(COG5):c.2244T>C (p.Ile748=)
|
|
|
NM_006348.5(COG5):c.2259C>T (p.Phe753=)
|
|
|
NM_006348.5(COG5):c.2263A>T (p.Arg755Ter)
|
rs2116201860
|
|
NM_006348.5(COG5):c.2274T>G (p.Ala758=)
|
|
|
NM_006348.5(COG5):c.2280G>C (p.Leu760=)
|
|
|
NM_006348.5(COG5):c.2283A>G (p.Lys761=)
|
|
|
NM_006348.5(COG5):c.2295+20C>A
|
|
|
NM_006348.5(COG5):c.2295G>T (p.Gln765His)
|
rs1212652543
|
|
NM_006348.5(COG5):c.2296-17G>A
|
|
|
NM_006348.5(COG5):c.2296-18T>C
|
|
|
NM_006348.5(COG5):c.2296-4G>T
|
|
|
NM_006348.5(COG5):c.2296-6C>G
|
|
|
NM_006348.5(COG5):c.2296-7C>G
|
rs778380856
|
|
NM_006348.5(COG5):c.2296-7C>T
|
|
|
NM_006348.5(COG5):c.2304G>C (p.Glu768Asp)
|
|
|
NM_006348.5(COG5):c.2309C>T (p.Ser770Phe)
|
|
|
NM_006348.5(COG5):c.2335G>A (p.Asp779Asn)
|
|
|
NM_006348.5(COG5):c.234+18G>C
|
rs2129179413
|
|
NM_006348.5(COG5):c.234+9G>T
|
|
|
NM_006348.5(COG5):c.2346A>T (p.Pro782=)
|
rs2116193767
|
|
NM_006348.5(COG5):c.2347T>C (p.Ser783Pro)
|
rs773449359
|
|
NM_006348.5(COG5):c.235-10dup
|
rs778522810
|
|
NM_006348.5(COG5):c.235-15A>G
|
|
|
NM_006348.5(COG5):c.235-20C>A
|
|
|
NM_006348.5(COG5):c.235-20_235-18del
|
|
|
NM_006348.5(COG5):c.235-9G>T
|
|
|
NM_006348.5(COG5):c.2352A>T (p.Glu784Asp)
|
rs2116193691
|
|
NM_006348.5(COG5):c.2360G>T (p.Arg787Met)
|
rs761946629
|
|
NM_006348.5(COG5):c.2361G>A (p.Arg787=)
|
|
|
NM_006348.5(COG5):c.2364C>T (p.Leu788=)
|
rs2116193413
|
|
NM_006348.5(COG5):c.2375+12T>C
|
|
|
NM_006348.5(COG5):c.2375+15T>C
|
|
|
NM_006348.5(COG5):c.2375+7C>T
|
|
|
NM_006348.5(COG5):c.2375G>A (p.Arg792Lys)
|
rs2116193173
|
|
NM_006348.5(COG5):c.2376-20_2376-17dup
|
|
|
NM_006348.5(COG5):c.237del (p.Val80fs)
|
rs1330009938
|
|
NM_006348.5(COG5):c.2390C>G (p.Ala797Gly)
|
rs1228532042
|
|
NM_006348.5(COG5):c.2390C>T (p.Ala797Val)
|
rs1228532042
|
|
NM_006348.5(COG5):c.2399A>G (p.Gln800Arg)
|
rs762082725
|
|
NM_006348.5(COG5):c.2412T>C (p.Ser804=)
|
|
|
NM_006348.5(COG5):c.2415A>T (p.Arg805Ser)
|
|
|
NM_006348.5(COG5):c.2425G>T (p.Glu809Ter)
|
rs1798520770
|
|
NM_006348.5(COG5):c.2433A>T (p.Ala811=)
|
rs775853693
|
|
NM_006348.5(COG5):c.244A>G (p.Arg82Gly)
|
|
|
NM_006348.5(COG5):c.2452G>C (p.Val818Leu)
|
rs2116084715
|
|
NM_006348.5(COG5):c.2456A>G (p.Gln819Arg)
|
rs34100214
|
|
NM_006348.5(COG5):c.2458C>T (p.Leu820=)
|
|
|
NM_006348.5(COG5):c.2473A>C (p.Met825Leu)
|
rs2116084157
|
|
NM_006348.5(COG5):c.2473_2474del (p.Met825fs)
|
rs777167502
|
|
NM_006348.5(COG5):c.2481T>A (p.Ala827=)
|
|
|
NM_006348.5(COG5):c.2481T>C (p.Ala827=)
|
rs563267149
|
|
NM_006348.5(COG5):c.2482C>T (p.Leu828Phe)
|
|
|
NM_006348.5(COG5):c.2483T>G (p.Leu828Arg)
|
|
|
NM_006348.5(COG5):c.24C>A (p.Val8=)
|
|
|
NM_006348.5(COG5):c.24C>G (p.Val8=)
|
|
|
NM_006348.5(COG5):c.24C>T (p.Val8=)
|
|
|
NM_006348.5(COG5):c.270A>G (p.Ala90=)
|
|
|
NM_006348.5(COG5):c.285G>A (p.Ser95=)
|
rs746581392
|
|
NM_006348.5(COG5):c.292+10T>C
|
|
|
NM_006348.5(COG5):c.292+6_292+14del
|
|
|
NM_006348.5(COG5):c.293-11T>C
|
|
|
NM_006348.5(COG5):c.293-12_293-11del
|
|
|
NM_006348.5(COG5):c.29T>A (p.Val10Glu)
|
|
|
NM_006348.5(COG5):c.29T>C (p.Val10Ala)
|
|
|
NM_006348.5(COG5):c.2T>C (p.Met1Thr)
|
rs375702393
|
|
NM_006348.5(COG5):c.2T>G (p.Met1Arg)
|
rs375702393
|
|
NM_006348.5(COG5):c.30A>C (p.Val10=)
|
|
|
NM_006348.5(COG5):c.30A>G (p.Val10=)
|
|
|
NM_006348.5(COG5):c.30_36del (p.Ala11fs)
|
rs2129184409
|
|
NM_006348.5(COG5):c.315G>A (p.Thr105=)
|
|
|
NM_006348.5(COG5):c.320T>C (p.Ile107Thr)
|
|
|
NM_006348.5(COG5):c.326C>T (p.Ala109Val)
|
rs758820507
|
|
NM_006348.5(COG5):c.332A>T (p.Gln111Leu)
|
rs1437532814
|
|
NM_006348.5(COG5):c.347+6G>A
|
|
|
NM_006348.5(COG5):c.347+8T>A
|
rs1802611356
|
|
NM_006348.5(COG5):c.347G>C (p.Arg116Thr)
|
rs1802613005
|
|
NM_006348.5(COG5):c.348-19dup
|
|
|
NM_006348.5(COG5):c.348-9_348-8del
|
|
|
NM_006348.5(COG5):c.372A>G (p.Pro124=)
|
|
|
NM_006348.5(COG5):c.376A>C (p.Asn126His)
|
rs1802592284
|
|
NM_006348.5(COG5):c.387T>C (p.Val129=)
|
|
|
NM_006348.5(COG5):c.396T>C (p.Thr132=)
|
|
|
NM_006348.5(COG5):c.39C>T (p.Leu13=)
|
|
|
NM_006348.5(COG5):c.411A>G (p.Arg137=)
|
rs747083048
|
|
NM_006348.5(COG5):c.417+11A>T
|
|
|
NM_006348.5(COG5):c.417+15T>C
|
|
|
NM_006348.5(COG5):c.417+4G>C
|
|
|
NM_006348.5(COG5):c.417+8C>T
|
|
|
NM_006348.5(COG5):c.418-17T>C
|
|
|
NM_006348.5(COG5):c.418-1G>T
|
|
|
NM_006348.5(COG5):c.418-2A>C
|
|
|
NM_006348.5(COG5):c.418-4A>G
|
|
|
NM_006348.5(COG5):c.42A>T (p.Gly14=)
|
|
|
NM_006348.5(COG5):c.434T>G (p.Leu145Arg)
|
|
|
NM_006348.5(COG5):c.436C>T (p.Arg146Trp)
|
|
|
NM_006348.5(COG5):c.437G>A (p.Arg146Gln)
|
|
|
NM_006348.5(COG5):c.437G>C (p.Arg146Pro)
|
|
|
NM_006348.5(COG5):c.43G>C (p.Ala15Pro)
|
|
|
NM_006348.5(COG5):c.442A>G (p.Ile148Val)
|
|
|
NM_006348.5(COG5):c.44C>G (p.Ala15Gly)
|
rs1804227263
|
|
NM_006348.5(COG5):c.452_453delinsAA (p.Ile151Lys)
|
rs2129156929
|
|
NM_006348.5(COG5):c.463_467delinsCT (p.Ser155_Lys156delinsLeu)
|
rs1800843840
|
|
NM_006348.5(COG5):c.46C>T (p.Arg16Ter)
|
|
|
NM_006348.5(COG5):c.47G>A (p.Arg16Gln)
|
rs781711867
|
|
NM_006348.5(COG5):c.482A>G (p.Gln161Arg)
|
rs141580311
|
|
NM_006348.5(COG5):c.487C>T (p.Gln163Ter)
|
rs1231928102
|
|
NM_006348.5(COG5):c.513A>G (p.Lys171=)
|
rs1178585946
|
|
NM_006348.5(COG5):c.519T>C (p.Ala173=)
|
|
|
NM_006348.5(COG5):c.51C>T (p.Gly17=)
|
|
|
NM_006348.5(COG5):c.534A>G (p.Glu178=)
|
rs765689232
|
|
NM_006348.5(COG5):c.538+20del
|
rs201626701
|
|
NM_006348.5(COG5):c.538+5G>T
|
|
|
NM_006348.5(COG5):c.538+6dup
|
rs201626701
|
|
NM_006348.5(COG5):c.539-18T>C
|
|
|
NM_006348.5(COG5):c.539-2A>G
|
|
|
NM_006348.5(COG5):c.542A>G (p.Tyr181Cys)
|
|
|
NM_006348.5(COG5):c.548C>G (p.Ser183Cys)
|
|
|
NM_006348.5(COG5):c.556A>G (p.Ile186Val)
|
|
|
NM_006348.5(COG5):c.557T>C (p.Ile186Thr)
|
rs2129067260
|
|
NM_006348.5(COG5):c.563T>C (p.Leu188Pro)
|
rs1563018594
|
|
NM_006348.5(COG5):c.571A>G (p.Ile191Val)
|
|
|
NM_006348.5(COG5):c.575A>G (p.Glu192Gly)
|
|
|
NM_006348.5(COG5):c.585A>G (p.Glu195=)
|
|
|
NM_006348.5(COG5):c.590A>T (p.Asp197Val)
|
|
|
NM_006348.5(COG5):c.591T>A (p.Asp197Glu)
|
|
|
NM_006348.5(COG5):c.592C>T (p.Leu198=)
|
|
|
NM_006348.5(COG5):c.594A>C (p.Leu198=)
|
|
|
NM_006348.5(COG5):c.5A>G (p.Glu2Gly)
|
|
|
NM_006348.5(COG5):c.610G>A (p.Ala204Thr)
|
|
|
NM_006348.5(COG5):c.611_613delinsTAGTGGAATT (p.Ala204fs)
|
rs1563018529
|
|
NM_006348.5(COG5):c.612C>T (p.Ala204=)
|
rs1792383808
|
|
NM_006348.5(COG5):c.616C>T (p.Leu206Phe)
|
rs1792382468
|
|
NM_006348.5(COG5):c.628A>T (p.Asn210Tyr)
|
rs2129067191
|
|
NM_006348.5(COG5):c.638A>G (p.Lys213Arg)
|
|
|
NM_006348.5(COG5):c.640C>T (p.Arg214Cys)
|
rs144485187
|
|
NM_006348.5(COG5):c.646C>G (p.Leu216Val)
|
rs1584789628
|
|
NM_006348.5(COG5):c.652C>T (p.Gln218Ter)
|
|
|
NM_006348.5(COG5):c.656G>T (p.Gly219Val)
|
rs760642504
|
|
NM_006348.5(COG5):c.660G>A (p.Leu220=)
|
|
|
NM_006348.5(COG5):c.666T>C (p.Thr222=)
|
|
|
NM_006348.5(COG5):c.669+10A>G
|
rs886061874
|
|
NM_006348.5(COG5):c.669+18_669+19del
|
rs10579767
|
|
NM_006348.5(COG5):c.669+1G>T
|
rs1792377306
|
|
NM_006348.5(COG5):c.669+5_669+7del
|
rs757035635
|
|
NM_006348.5(COG5):c.669+9A>C
|
rs774414370
|
|
NM_006348.5(COG5):c.669+9A>T
|
rs774414370
|
|
NM_006348.5(COG5):c.670-19C>T
|
|
|
NM_006348.5(COG5):c.670-25CCACC[4]
|
rs1814298466
|
|
NM_006348.5(COG5):c.670-4dup
|
|
|
NM_006348.5(COG5):c.670-9T>G
|
rs565990382
|
|
NM_006348.5(COG5):c.672T>C (p.Asn224=)
|
rs2129050171
|
|
NM_006348.5(COG5):c.676A>G (p.Thr226Ala)
|
|
|
NM_006348.5(COG5):c.682G>C (p.Val228Leu)
|
|
|
NM_006348.5(COG5):c.686G>A (p.Gly229Glu)
|
|
|
NM_006348.5(COG5):c.68C>G (p.Ala23Gly)
|
rs2129184361
|
|
NM_006348.5(COG5):c.697C>T (p.Gln233Ter)
|
|
|
NM_006348.5(COG5):c.697del (p.Gln233fs)
|
|
|
NM_006348.5(COG5):c.729_730dup (p.Thr244fs)
|
rs1289836014
|
|
NM_006348.5(COG5):c.739A>G (p.Ser247Gly)
|
rs1261586682
|
|
NM_006348.5(COG5):c.747G>T (p.Val249=)
|
|
|
NM_006348.5(COG5):c.762T>A (p.Ala254=)
|
|
|
NM_006348.5(COG5):c.767T>C (p.Leu256Ser)
|
|
|
NM_006348.5(COG5):c.776A>G (p.Asn259Ser)
|
rs2129050118
|
|
NM_006348.5(COG5):c.780C>A (p.Ile260=)
|
|
|
NM_006348.5(COG5):c.780C>T (p.Ile260=)
|
rs764388205
|
|
NM_006348.5(COG5):c.787G>A (p.Ala263Thr)
|
|
|
NM_006348.5(COG5):c.802G>T (p.Val268Phe)
|
rs2129050098
|
|
NM_006348.5(COG5):c.811C>T (p.Gln271Ter)
|
|
|
NM_006348.5(COG5):c.81del (p.Glu27fs)
|
rs777937112
|
|
NM_006348.5(COG5):c.826G>A (p.Ala276Thr)
|
rs2129050090
|
|
NM_006348.5(COG5):c.827C>G (p.Ala276Gly)
|
rs2129050089
|
|
NM_006348.5(COG5):c.82C>A (p.Leu28Ile)
|
|
|
NM_006348.5(COG5):c.832A>T (p.Arg278Ter)
|
|
|
NM_006348.5(COG5):c.835+12G>A
|
|
|
NM_006348.5(COG5):c.835+4T>C
|
rs915388047
|
|
NM_006348.5(COG5):c.835+6G>A
|
rs2129050084
|
|
NM_006348.5(COG5):c.835+8T>C
|
rs2129050082
|
|
NM_006348.5(COG5):c.836-11C>T
|
rs886061873
|
|
NM_006348.5(COG5):c.837G>C (p.Gly279=)
|
|
|
NM_006348.5(COG5):c.839G>A (p.Gly280Glu)
|
rs138072101
|
|
NM_006348.5(COG5):c.846A>G (p.Gly282=)
|
|
|
NM_006348.5(COG5):c.851C>G (p.Ser284Cys)
|
|
|
NM_006348.5(COG5):c.852T>C (p.Ser284=)
|
rs2129046289
|
|
NM_006348.5(COG5):c.856_857delinsTG (p.Met286Trp)
|
rs2129046287
|
|
NM_006348.5(COG5):c.878C>T (p.Ala293Val)
|
rs2129046276
|
|
NM_006348.5(COG5):c.906T>C (p.Asn302=)
|
|
|
NM_006348.5(COG5):c.924T>C (p.Asp308=)
|
|
|
NM_006348.5(COG5):c.936del (p.Val313fs)
|
|
|
NM_006348.5(COG5):c.93C>T (p.Asp31=)
|
|
|
NM_006348.5(COG5):c.94+14del
|
rs1263454350
|
|
NM_006348.5(COG5):c.94+8G>A
|
|
|
NM_006348.5(COG5):c.941G>T (p.Cys314Phe)
|
|
|
NM_006348.5(COG5):c.948+12A>T
|
rs763696416
|
|
NM_006348.5(COG5):c.95-12T>G
|
|
|
NM_006348.5(COG5):c.95-12del
|
rs2129179571
|
|
NM_006348.5(COG5):c.95-17T>A
|
|
|
NM_006348.5(COG5):c.95-5T>A
|
|
|
NM_006348.5(COG5):c.955_963del (p.His319_Gln321del)
|
rs2129046150
|
|
NM_006348.5(COG5):c.958C>A (p.Leu320Ile)
|
rs2129046155
|
|
NM_006348.5(COG5):c.959T>C (p.Leu320Pro)
|
rs1584729488
|
|
NM_006348.5(COG5):c.961C>T (p.Gln321Ter)
|
rs370028534
|
|
NM_006348.5(COG5):c.96del (p.Cys33Valfs)
|
rs1554464495
|
|
NM_006348.5(COG5):c.977A>G (p.Lys326Arg)
|
rs1214496373
|
|
NM_006348.5(COG5):c.981G>A (p.Lys327=)
|
|
|
NM_006348.5(COG5):c.99T>C (p.Cys33=)
|
|
|
NM_006416.4(SLC35A1):c.[147T>C;277delG;281delC]
|
|
|
NM_006416.5(SLC35A1):c.194+17A>G
|
|
|
NM_006416.5(SLC35A1):c.195-16C>G
|
|
|
NM_006416.5(SLC35A1):c.300T>C (p.Val100=)
|
|
|
NM_006416.5(SLC35A1):c.303G>C (p.Gln101His)
|
rs1554166294
|
|
NM_006416.5(SLC35A1):c.355-11_355-8del
|
|
|
NM_006416.5(SLC35A1):c.439T>C (p.Ser147Pro)
|
|
|
NM_006416.5(SLC35A1):c.467C>G (p.Thr156Arg)
|
rs578205635
|
|
NM_006416.5(SLC35A1):c.475C>T (p.Gln159Ter)
|
|
|
NM_006416.5(SLC35A1):c.48C>T (p.Cys16=)
|
rs2127962762
|
|
NM_006416.5(SLC35A1):c.508-10A>G
|
|
|
NM_006416.5(SLC35A1):c.523TTA[1] (p.Leu176del)
|
|
|
NM_006416.5(SLC35A1):c.546T>C (p.Ala182=)
|
rs2127976715
|
|
NM_006416.5(SLC35A1):c.574+17T>C
|
|
|
NM_006416.5(SLC35A1):c.586G>A (p.Glu196Lys)
|
rs1554166844
|
|
NM_006416.5(SLC35A1):c.639G>A (p.Met213Ile)
|
|
|
NM_006416.5(SLC35A1):c.699T>C (p.Ile233=)
|
|
|
NM_006416.5(SLC35A1):c.699T>G (p.Ile233Met)
|
rs150233994
|
|
NM_006416.5(SLC35A1):c.752-7A>G
|
rs896891254
|
|
NM_006416.5(SLC35A1):c.752-9G>T
|
rs777227478
|
|
NM_006416.5(SLC35A1):c.757G>C (p.Ala253Pro)
|
rs1484245900
|
|
NM_006416.5(SLC35A1):c.763G>C (p.Val255Leu)
|
rs550275644
|
|
NM_006416.5(SLC35A1):c.7G>A (p.Ala3Thr)
|
|
|
NM_006416.5(SLC35A1):c.855T>G (p.Ile285Met)
|
|
|
NM_006416.5(SLC35A1):c.883A>C (p.Ile295Leu)
|
rs2127977717
|
|
NM_006416.5(SLC35A1):c.887-20A>T
|
|
|
NM_006416.5(SLC35A1):c.887-8C>T
|
rs1372861855
|
|
NM_006416.5(SLC35A1):c.887-9del
|
rs747644865
|
|
NM_006416.5(SLC35A1):c.887-9dup
|
rs747644865
|
|
NM_006416.5(SLC35A1):c.908C>G (p.Thr303Ser)
|
rs2127978566
|
|
NM_006416.5(SLC35A1):c.963A>G (p.Thr321=)
|
|
|
NM_007357.3(COG2):c.1002T>C (p.Pro334=)
|
|
|
NM_007357.3(COG2):c.1026+11G>A
|
rs200709537
|
|
NM_007357.3(COG2):c.1026+14C>T
|
|
|
NM_007357.3(COG2):c.1040G>A (p.Ser347Asn)
|
|
|
NM_007357.3(COG2):c.109A>G (p.Arg37Gly)
|
rs2102749319
|
|
NM_007357.3(COG2):c.1133A>G (p.Lys378Arg)
|
rs773980476
|
|
NM_007357.3(COG2):c.1166+19G>A
|
|
|
NM_007357.3(COG2):c.1167-19C>A
|
|
|
NM_007357.3(COG2):c.116G>A (p.Arg39Gln)
|
rs766265749
|
|
NM_007357.3(COG2):c.1182G>C (p.Ala394=)
|
|
|
NM_007357.3(COG2):c.1284G>T (p.Arg428Ser)
|
rs1194562705
|
|
NM_007357.3(COG2):c.1301T>C (p.Met434Thr)
|
|
|
NM_007357.3(COG2):c.1329G>A (p.Leu443=)
|
|
|
NM_007357.3(COG2):c.1392G>A (p.Arg464=)
|
rs2102772880
|
|
NM_007357.3(COG2):c.1407A>G (p.Glu469=)
|
rs2102772897
|
|
NM_007357.3(COG2):c.145C>T (p.Leu49=)
|
|
|
NM_007357.3(COG2):c.1480G>A (p.Asp494Asn)
|
|
|
NM_007357.3(COG2):c.151C>T (p.Leu51Phe)
|
rs2102749359
|
|
NM_007357.3(COG2):c.1529G>T (p.Arg510Leu)
|
rs138181699
|
|
NM_007357.3(COG2):c.1578+11G>C
|
|
|
NM_007357.3(COG2):c.1622T>C (p.Ile541Thr)
|
rs1662927499
|
|
NM_007357.3(COG2):c.174A>G (p.Thr58=)
|
|
|
NM_007357.3(COG2):c.1765G>C (p.Val589Leu)
|
rs34109129
|
|
NM_007357.3(COG2):c.1800C>G (p.Val600=)
|
|
|
NM_007357.3(COG2):c.184G>A (p.Glu62Lys)
|
|
|
NM_007357.3(COG2):c.1855C>T (p.Gln619Ter)
|
rs1662986310
|
|
NM_007357.3(COG2):c.189C>T (p.Leu63=)
|
|
|
NM_007357.3(COG2):c.1900T>G (p.Trp634Gly)
|
rs1085307117
|
|
NM_007357.3(COG2):c.1935-3A>G
|
|
|
NM_007357.3(COG2):c.1965C>T (p.Asn655=)
|
rs2102777014
|
|
NM_007357.3(COG2):c.1977G>A (p.Lys659=)
|
|
|
NM_007357.3(COG2):c.2034C>T (p.Pro678=)
|
rs575955728
|
|
NM_007357.3(COG2):c.2115+18G>A
|
|
|
NM_007357.3(COG2):c.2139_2142del (p.Ser714fs)
|
|
|
NM_007357.3(COG2):c.2159C>T (p.Ser720Leu)
|
|
|
NM_007357.3(COG2):c.235-8del
|
|
|
NM_007357.3(COG2):c.260del (p.Gln87fs)
|
|
|
NM_007357.3(COG2):c.300+11C>T
|
|
|
NM_007357.3(COG2):c.312G>A (p.Ser104=)
|
|
|
NM_007357.3(COG2):c.36G>A (p.Pro12=)
|
rs537982202
|
|
NM_007357.3(COG2):c.413G>A (p.Arg138Gln)
|
|
|
NM_007357.3(COG2):c.42G>A (p.Thr14=)
|
|
|
NM_007357.3(COG2):c.435A>G (p.Lys145=)
|
rs1228384430
|
|
NM_007357.3(COG2):c.436dup (p.Ile146fs)
|
rs1031719032
|
|
NM_007357.3(COG2):c.479C>T (p.Ala160Val)
|
|
|
NM_007357.3(COG2):c.482G>A (p.Ser161Asn)
|
|
|
NM_007357.3(COG2):c.485+19A>G
|
|
|
NM_007357.3(COG2):c.489C>T (p.Pro163=)
|
rs2102757233
|
|
NM_007357.3(COG2):c.504A>C (p.Gln168His)
|
rs377285547
|
|
NM_007357.3(COG2):c.601G>A (p.Ala201Thr)
|
|
|
NM_007357.3(COG2):c.615C>T (p.Ala205=)
|
|
|
NM_007357.3(COG2):c.695G>T (p.Arg232Leu)
|
|
|
NM_007357.3(COG2):c.701dup (p.Tyr234Ter)
|
rs1085307116
|
|
NM_007357.3(COG2):c.809A>G (p.Asn270Ser)
|
|
|
NM_007357.3(COG2):c.81C>T (p.Phe27=)
|
|
|
NM_007357.3(COG2):c.843G>A (p.Glu281=)
|
|
|
NM_007357.3(COG2):c.872G>A (p.Arg291Gln)
|
|
|
NM_007357.3(COG2):c.900-20T>C
|
|
|
NM_007357.3(COG2):c.936G>A (p.Leu312=)
|
rs1662550597
|
|
NM_007357.3(COG2):c.987C>G (p.Pro329=)
|
|
|
NM_012257.4(HBP1):c.*659T>C
|
rs1798368433
|
|
NM_015077.4(SARM1):c.549= (p.Ser183=)
|
|
|
NM_015386.3(COG4):c.1002+13A>G
|
|
|
NM_015386.3(COG4):c.1064A>T (p.Glu355Val)
|
|
|
NM_015386.3(COG4):c.1255G>T (p.Glu419Ter)
|
rs2151749755
|
|
NM_015386.3(COG4):c.1464G>T (p.Glu488Asp)
|
rs2151749287
|
|
NM_015386.3(COG4):c.1472C>G (p.Ser491Cys)
|
rs1567729648
|
|
NM_015386.3(COG4):c.1542G>T (p.Gln514His)
|
rs2049339762
|
|
NM_015386.3(COG4):c.1546G>A (p.Gly516Arg)
|
rs1555575860
|
|
NM_015386.3(COG4):c.1608del (p.Gly537fs)
|
|
|
NM_015386.3(COG4):c.1647+13C>T
|
|
|
NM_015386.3(COG4):c.1648-12C>T
|
rs770851169
|
|
NM_015386.3(COG4):c.1648-9A>C
|
rs777747818
|
|
NM_015386.3(COG4):c.1663G>A (p.Val555Met)
|
|
|
NM_015386.3(COG4):c.169G>A (p.Glu57Lys)
|
|
|
NM_015386.3(COG4):c.171+10C>A
|
rs773672255
|
|
NM_015386.3(COG4):c.172-11C>T
|
|
|
NM_015386.3(COG4):c.1720A>T (p.Thr574Ser)
|
|
|
NM_015386.3(COG4):c.1816G>C (p.Asp606His)
|
rs2151739637
|
|
NM_015386.3(COG4):c.1839G>C (p.Thr613=)
|
|
|
NM_015386.3(COG4):c.1950C>T (p.Asp650=)
|
|
|
NM_015386.3(COG4):c.1978C>T (p.Leu660=)
|
|
|
NM_015386.3(COG4):c.2004+10G>A
|
|
|
NM_015386.3(COG4):c.2026T>C (p.Tyr676His)
|
rs2151737380
|
|
NM_015386.3(COG4):c.2029G>A (p.Asp677Asn)
|
|
|
NM_015386.3(COG4):c.2076G>T (p.Glu692Asp)
|
|
|
NM_015386.3(COG4):c.2081T>C (p.Val694Ala)
|
|
|
NM_015386.3(COG4):c.2083G>T (p.Val695Leu)
|
rs1597651455
|
|
NM_015386.3(COG4):c.2106+4A>G
|
|
|
NM_015386.3(COG4):c.2107-18G>A
|
rs2151736985
|
|
NM_015386.3(COG4):c.2114G>C (p.Gly705Ala)
|
rs2151736960
|
|
NM_015386.3(COG4):c.2141C>G (p.Ser714Trp)
|
rs751809847
|
|
NM_015386.3(COG4):c.2236-16A>G
|
rs17879608
|
|
NM_015386.3(COG4):c.2236G>A (p.Val746Met)
|
|
|
NM_015386.3(COG4):c.2282C>T (p.Thr761Met)
|
|
|
NM_015386.3(COG4):c.2293A>G (p.Thr765Ala)
|
|
|
NM_015386.3(COG4):c.2310C>G (p.Arg770=)
|
rs533161794
|
|
NM_015386.3(COG4):c.2318T>G (p.Leu773Arg)
|
rs387907203
|
|
NM_015386.3(COG4):c.233T>C (p.Met78Thr)
|
rs2151765539
|
|
NM_015386.3(COG4):c.2342G>A (p.Ser781Asn)
|
|
|
NM_015386.3(COG4):c.248G>A (p.Arg83Gln)
|
rs374037904
|
|
NM_015386.3(COG4):c.265C>A (p.Gln89Lys)
|
|
|
NM_015386.3(COG4):c.310T>G (p.Phe104Val)
|
|
|
NM_015386.3(COG4):c.327T>C (p.Ala109=)
|
|
|
NM_015386.3(COG4):c.35C>T (p.Pro12Leu)
|
rs146758430
|
|
NM_015386.3(COG4):c.369+1_369+2del
|
rs1311924956
|
|
NM_015386.3(COG4):c.369G>A (p.Lys123=)
|
|
|
NM_015386.3(COG4):c.370-19G>A
|
|
|
NM_015386.3(COG4):c.372C>T (p.Asn124=)
|
|
|
NM_015386.3(COG4):c.379T>C (p.Tyr127His)
|
rs1276662286
|
|
NM_015386.3(COG4):c.397G>A (p.Ala133Thr)
|
|
|
NM_015386.3(COG4):c.484_485inv (p.Thr162Val)
|
|
|
NM_015386.3(COG4):c.510G>A (p.Lys170=)
|
|
|
NM_015386.3(COG4):c.544+1G>T
|
rs540632609
|
|
NM_015386.3(COG4):c.599_600del (p.Lys200fs)
|
rs2049726544
|
|
NM_015386.3(COG4):c.619T>C (p.Phe207Leu)
|
|
|
NM_015386.3(COG4):c.625A>G (p.Ile209Val)
|
|
|
NM_015386.3(COG4):c.68G>A (p.Gly23Glu)
|
|
|
NM_015386.3(COG4):c.697G>T (p.Glu233Ter)
|
rs387907202
|
|
NM_015386.3(COG4):c.6del (p.Thr3fs)
|
rs937887233
|
|
NM_015386.3(COG4):c.722A>G (p.Glu241Gly)
|
|
|
NM_015386.3(COG4):c.739-8T>C
|
|
|
NM_015386.3(COG4):c.73G>T (p.Gly25Ter)
|
rs1249789100
|
|
NM_015386.3(COG4):c.793G>A (p.Asp265Asn)
|
|
|
NM_015386.3(COG4):c.83G>T (p.Arg28Leu)
|
rs1246610468
|
|
NM_015386.3(COG4):c.863A>G (p.Glu288Gly)
|
rs2049650498
|
|
NM_015386.3(COG4):c.883G>T (p.Glu295Ter)
|
rs2151758219
|
|
NM_015386.3(COG4):c.897G>T (p.Gly299=)
|
|
|
NM_015386.3(COG4):c.941G>A (p.Cys314Tyr)
|
rs2151758141
|
|
NM_015949.3(GET4):c.837A>G (p.Ile279Met)
|
rs1844404490
|
|
NM_018389.4(SLC35C1):c.-678A>G
|
rs886048306
|
|
NM_018389.5(SLC35C1):c.*1426G>A
|
rs886048321
|
|
NM_018389.5(SLC35C1):c.*1582C>T
|
rs189120012
|
|
NM_018389.5(SLC35C1):c.*1636G>A
|
rs79173599
|
|
NM_018389.5(SLC35C1):c.*1636G>T
|
rs79173599
|
|
NM_018389.5(SLC35C1):c.*697G>A
|
rs866682376
|
|
NM_018389.5(SLC35C1):c.-234T>G
|
rs886048313
|
|
NM_018389.5(SLC35C1):c.-615G>C
|
rs987392297
|
|
NM_018389.5(SLC35C1):c.1001C>A (p.Ser334Tyr)
|
rs1554953926
|
|
NM_018389.5(SLC35C1):c.1004C>T (p.Ser335Phe)
|
|
|
NM_018389.5(SLC35C1):c.1005C>T (p.Ser335=)
|
|
|
NM_018389.5(SLC35C1):c.1008C>T (p.Ala336=)
|
rs2134598644
|
|
NM_018389.5(SLC35C1):c.1021del (p.Arg341fs)
|
rs2134598673
|
|
NM_018389.5(SLC35C1):c.1062C>T (p.Pro354=)
|
rs886048315
|
|
NM_018389.5(SLC35C1):c.1079G>A (p.Ser360Asn)
|
|
|
NM_018389.5(SLC35C1):c.1085T>C (p.Met362Thr)
|
rs2134598996
|
|
NM_018389.5(SLC35C1):c.108G>A (p.Leu36=)
|
|
|
NM_018389.5(SLC35C1):c.1090G>T (p.Val364Leu)
|
rs1329095261
|
|
NM_018389.5(SLC35C1):c.10G>A (p.Ala4Thr)
|
rs538320044
|
|
NM_018389.5(SLC35C1):c.120G>C (p.Gln40His)
|
rs1554953091
|
|
NM_018389.5(SLC35C1):c.120G>T (p.Gln40His)
|
rs1554953091
|
|
NM_018389.5(SLC35C1):c.123C>T (p.Ile41=)
|
rs1590742957
|
|
NM_018389.5(SLC35C1):c.126G>C (p.Ala42=)
|
|
|
NM_018389.5(SLC35C1):c.12C>T (p.Ala4=)
|
|
|
NM_018389.5(SLC35C1):c.14C>T (p.Pro5Leu)
|
rs2085864641
|
|
NM_018389.5(SLC35C1):c.150C>T (p.Val50=)
|
|
|
NM_018389.5(SLC35C1):c.183C>T (p.Tyr61=)
|
|
|
NM_018389.5(SLC35C1):c.184C>G (p.Leu62Val)
|
rs1318213708
|
|
NM_018389.5(SLC35C1):c.192C>G (p.Asp64Glu)
|
rs1315840820
|
|
NM_018389.5(SLC35C1):c.198C>T (p.Pro66=)
|
rs1358909221
|
|
NM_018389.5(SLC35C1):c.200C>T (p.Ser67Phe)
|
rs554958653
|
|
NM_018389.5(SLC35C1):c.204G>A (p.Leu68=)
|
|
|
NM_018389.5(SLC35C1):c.207G>A (p.Arg69=)
|
rs757588395
|
|
NM_018389.5(SLC35C1):c.209T>G (p.Leu70Arg)
|
|
|
NM_018389.5(SLC35C1):c.216C>T (p.Thr72=)
|
|
|
NM_018389.5(SLC35C1):c.222C>A (p.Ile74=)
|
|
|
NM_018389.5(SLC35C1):c.226G>C (p.Val76Leu)
|
rs200202916
|
|
NM_018389.5(SLC35C1):c.22C>T (p.Arg8Trp)
|
|
|
NM_018389.5(SLC35C1):c.231C>G (p.Thr77=)
|
rs1162234989
|
|
NM_018389.5(SLC35C1):c.255G>A (p.Thr85=)
|
|
|
NM_018389.5(SLC35C1):c.255G>T (p.Thr85=)
|
|
|
NM_018389.5(SLC35C1):c.258G>A (p.Leu86=)
|
|
|
NM_018389.5(SLC35C1):c.260T>C (p.Leu87Pro)
|
rs2134590175
|
|
NM_018389.5(SLC35C1):c.271C>T (p.Leu91Phe)
|
|
|
NM_018389.5(SLC35C1):c.286G>A (p.Ala96Thr)
|
|
|
NM_018389.5(SLC35C1):c.291C>T (p.Cys97=)
|
|
|
NM_018389.5(SLC35C1):c.303C>T (p.Ala101=)
|
rs1252172682
|
|
NM_018389.5(SLC35C1):c.309C>T (p.Asp103=)
|
|
|
NM_018389.5(SLC35C1):c.323G>C (p.Arg108Pro)
|
rs765620583
|
|
NM_018389.5(SLC35C1):c.323G>T (p.Arg108Leu)
|
rs765620583
|
|
NM_018389.5(SLC35C1):c.330C>G (p.Asp110Glu)
|
rs374967002
|
|
NM_018389.5(SLC35C1):c.330C>T (p.Asp110=)
|
|
|
NM_018389.5(SLC35C1):c.336G>A (p.Arg112=)
|
|
|
NM_018389.5(SLC35C1):c.340G>C (p.Ala114Pro)
|
|
|
NM_018389.5(SLC35C1):c.344G>A (p.Arg115His)
|
|
|
NM_018389.5(SLC35C1):c.345C>T (p.Arg115=)
|
|
|
NM_018389.5(SLC35C1):c.348C>T (p.Ser116=)
|
rs755762331
|
|
NM_018389.5(SLC35C1):c.357C>T (p.Pro119=)
|
|
|
NM_018389.5(SLC35C1):c.360G>A (p.Leu120=)
|
|
|
NM_018389.5(SLC35C1):c.363G>A (p.Ser121=)
|
|
|
NM_018389.5(SLC35C1):c.367del (p.Val123fs)
|
rs2085872592
|
|
NM_018389.5(SLC35C1):c.375C>G (p.Ile125Met)
|
rs747143721
|
|
NM_018389.5(SLC35C1):c.377G>A (p.Gly126Asp)
|
rs2085873008
|
|
NM_018389.5(SLC35C1):c.381G>T (p.Met127Ile)
|
|
|
NM_018389.5(SLC35C1):c.402C>T (p.Cys134=)
|
rs955606062
|
|
NM_018389.5(SLC35C1):c.408G>A (p.Lys136=)
|
rs1297705723
|
|
NM_018389.5(SLC35C1):c.40A>G (p.Met14Val)
|
rs775175277
|
|
NM_018389.5(SLC35C1):c.411C>T (p.Tyr137=)
|
|
|
NM_018389.5(SLC35C1):c.42G>A (p.Met14Ile)
|
|
|
NM_018389.5(SLC35C1):c.439C>T (p.Arg147Cys)
|
rs28939087
|
|
NM_018389.5(SLC35C1):c.447C>T (p.Leu149=)
|
|
|
NM_018389.5(SLC35C1):c.453C>T (p.Thr151=)
|
|
|
NM_018389.5(SLC35C1):c.465GCT[3] (p.Leu157_Ser158insLeu)
|
rs2134590716
|
|
NM_018389.5(SLC35C1):c.482T>C (p.Leu161Pro)
|
rs778718913
|
|
NM_018389.5(SLC35C1):c.503_505del (p.Phe168del)
|
rs587777655
|
|
NM_018389.5(SLC35C1):c.506A>G (p.Tyr169Cys)
|
|
|
NM_018389.5(SLC35C1):c.535+20A>G
|
|
|
NM_018389.5(SLC35C1):c.536-16C>T
|
|
|
NM_018389.5(SLC35C1):c.536-21CTC[2]
|
rs771937822
|
|
NM_018389.5(SLC35C1):c.549T>C (p.Leu183=)
|
|
|
NM_018389.5(SLC35C1):c.564G>A (p.Glu188=)
|
rs543075977
|
|
NM_018389.5(SLC35C1):c.567G>C (p.Gly189=)
|
|
|
NM_018389.5(SLC35C1):c.580C>T (p.Leu194=)
|
|
|
NM_018389.5(SLC35C1):c.58T>C (p.Ser20Pro)
|
|
|
NM_018389.5(SLC35C1):c.58T>G (p.Ser20Ala)
|
rs2085865383
|
|
NM_018389.5(SLC35C1):c.593G>C (p.Gly198Ala)
|
|
|
NM_018389.5(SLC35C1):c.595A>G (p.Thr199Ala)
|
|
|
NM_018389.5(SLC35C1):c.603C>T (p.Phe201=)
|
|
|
NM_018389.5(SLC35C1):c.60A>G (p.Ser20=)
|
|
|
NM_018389.5(SLC35C1):c.622T>C (p.Cys208Arg)
|
|
|
NM_018389.5(SLC35C1):c.640A>G (p.Ile214Val)
|
rs2134597431
|
|
NM_018389.5(SLC35C1):c.651G>T (p.Thr217=)
|
|
|
NM_018389.5(SLC35C1):c.656T>C (p.Val219Ala)
|
rs2134597499
|
|
NM_018389.5(SLC35C1):c.66C>T (p.Pro22=)
|
|
|
NM_018389.5(SLC35C1):c.672C>G (p.Asp224Glu)
|
rs528291665
|
|
NM_018389.5(SLC35C1):c.672C>T (p.Asp224=)
|
rs528291665
|
|
NM_018389.5(SLC35C1):c.674G>A (p.Gly225Asp)
|
rs2134597563
|
|
NM_018389.5(SLC35C1):c.679A>G (p.Ile227Val)
|
rs1565043377
|
|
NM_018389.5(SLC35C1):c.705C>T (p.Asn235=)
|
|
|
NM_018389.5(SLC35C1):c.717_718inv (p.Ile240Val)
|
|
|
NM_018389.5(SLC35C1):c.718A>C (p.Ile240Leu)
|
rs7130656
|
|
NM_018389.5(SLC35C1):c.737T>A (p.Leu246His)
|
|
|
NM_018389.5(SLC35C1):c.738C>G (p.Leu246=)
|
|
|
NM_018389.5(SLC35C1):c.738C>T (p.Leu246=)
|
rs369955835
|
|
NM_018389.5(SLC35C1):c.73G>A (p.Glu25Lys)
|
|
|
NM_018389.5(SLC35C1):c.744G>T (p.Leu248=)
|
|
|
NM_018389.5(SLC35C1):c.751G>A (p.Glu251Lys)
|
|
|
NM_018389.5(SLC35C1):c.759G>A (p.Gln253=)
|
|
|
NM_018389.5(SLC35C1):c.769G>T (p.Asp257Tyr)
|
rs2085936907
|
|
NM_018389.5(SLC35C1):c.776C>T (p.Ala259Val)
|
rs1159038048
|
|
NM_018389.5(SLC35C1):c.778C>T (p.Gln260Ter)
|
rs1470970903
|
|
NM_018389.5(SLC35C1):c.78A>G (p.Ala26=)
|
rs112575013
|
|
NM_018389.5(SLC35C1):c.791C>T (p.Ala264Val)
|
|
|
NM_018389.5(SLC35C1):c.804G>T (p.Gly268=)
|
rs1327025697
|
|
NM_018389.5(SLC35C1):c.836C>G (p.Ala279Gly)
|
|
|
NM_018389.5(SLC35C1):c.840C>A (p.Ile280=)
|
rs368103927
|
|
NM_018389.5(SLC35C1):c.840C>T (p.Ile280=)
|
rs368103927
|
|
NM_018389.5(SLC35C1):c.842G>A (p.Gly281Asp)
|
rs1265362913
|
|
NM_018389.5(SLC35C1):c.847G>A (p.Val283Met)
|
|
|
NM_018389.5(SLC35C1):c.84C>A (p.Ala28=)
|
|
|
NM_018389.5(SLC35C1):c.854G>A (p.Gly285Glu)
|
rs1377122884
|
|
NM_018389.5(SLC35C1):c.854G>T (p.Gly285Val)
|
|
|
NM_018389.5(SLC35C1):c.85A>C (p.Asn29His)
|
rs1304558236
|
|
NM_018389.5(SLC35C1):c.861G>A (p.Gln287=)
|
|
|
NM_018389.5(SLC35C1):c.866A>G (p.Lys289Arg)
|
rs2085939659
|
|
NM_018389.5(SLC35C1):c.877C>A (p.Pro293Thr)
|
rs2134598263
|
|
NM_018389.5(SLC35C1):c.885C>T (p.Thr295=)
|
|
|
NM_018389.5(SLC35C1):c.887A>G (p.His296Arg)
|
rs2134598287
|
|
NM_018389.5(SLC35C1):c.891T>A (p.Asn297Lys)
|
rs2134598310
|
|
NM_018389.5(SLC35C1):c.896C>T (p.Ser299Leu)
|
rs2085940384
|
|
NM_018389.5(SLC35C1):c.903G>A (p.Thr301=)
|
rs150743224
|
|
NM_018389.5(SLC35C1):c.916G>T (p.Ala306Ser)
|
|
|
NM_018389.5(SLC35C1):c.91G>T (p.Glu31Ter)
|
rs398124345
|
|
NM_018389.5(SLC35C1):c.923C>G (p.Thr308Arg)
|
rs28937886
|
|
NM_018389.5(SLC35C1):c.933C>G (p.Ala311=)
|
rs1025394775
|
|
NM_018389.5(SLC35C1):c.940TAC[1] (p.Tyr315del)
|
rs760348382
|
|
NM_018389.5(SLC35C1):c.945C>T (p.Tyr315=)
|
|
|
NM_018389.5(SLC35C1):c.954C>G (p.Thr318=)
|
|
|
NM_018389.5(SLC35C1):c.956A>C (p.Lys319Thr)
|
rs2134598497
|
|
NM_018389.5(SLC35C1):c.969G>C (p.Trp323Cys)
|
rs2085942265
|
|
NM_018389.5(SLC35C1):c.978C>T (p.Ser326=)
|
|
|
NM_018389.5(SLC35C1):c.983T>G (p.Met328Arg)
|
rs764394629
|
|
NM_018389.5(SLC35C1):c.998G>C (p.Gly333Ala)
|
rs2085942864
|
|
NM_018475.5(TMEM165):c.*121T>A
|
rs1722162103
|
|
NM_018475.5(TMEM165):c.123C>T (p.His41=)
|
|
|
NM_018475.5(TMEM165):c.124C>T (p.Arg42Trp)
|
|
|
NM_018475.5(TMEM165):c.138G>A (p.Pro46=)
|
|
|
NM_018475.5(TMEM165):c.143C>T (p.Ala48Val)
|
|
|
NM_018475.5(TMEM165):c.163C>G (p.Pro55Ala)
|
|
|
NM_018475.5(TMEM165):c.164C>A (p.Pro55Gln)
|
rs1436584785
|
|
NM_018475.5(TMEM165):c.17_18delinsGG (p.Pro6Arg)
|
|
|
NM_018475.5(TMEM165):c.185G>T (p.Gly62Val)
|
|
|
NM_018475.5(TMEM165):c.191A>G (p.Glu64Gly)
|
rs1720726251
|
|
NM_018475.5(TMEM165):c.196G>T (p.Ala66Ser)
|
|
|
NM_018475.5(TMEM165):c.207+16T>C
|
|
|
NM_018475.5(TMEM165):c.207+3G>A
|
rs1720727389
|
|
NM_018475.5(TMEM165):c.208-15A>T
|
|
|
NM_018475.5(TMEM165):c.208-16G>A
|
|
|
NM_018475.5(TMEM165):c.208-5del
|
rs770787680
|
|
NM_018475.5(TMEM165):c.208-5dup
|
rs770787680
|
|
NM_018475.5(TMEM165):c.218C>T (p.Thr73Ile)
|
|
|
NM_018475.5(TMEM165):c.242A>G (p.Asn81Ser)
|
|
|
NM_018475.5(TMEM165):c.295G>A (p.Ala99Thr)
|
|
|
NM_018475.5(TMEM165):c.30C>G (p.Arg10=)
|
|
|
NM_018475.5(TMEM165):c.35C>G (p.Ser12Trp)
|
|
|
NM_018475.5(TMEM165):c.377G>A (p.Arg126His)
|
rs387907221
|
|
NM_018475.5(TMEM165):c.384C>T (p.Thr128=)
|
|
|
NM_018475.5(TMEM165):c.400A>G (p.Met134Val)
|
|
|
NM_018475.5(TMEM165):c.402G>A (p.Met134Ile)
|
|
|
NM_018475.5(TMEM165):c.41C>T (p.Pro14Leu)
|
rs2109509637
|
|
NM_018475.5(TMEM165):c.427T>C (p.Leu143=)
|
|
|
NM_018475.5(TMEM165):c.433+17C>T
|
|
|
NM_018475.5(TMEM165):c.433+7G>A
|
|
|
NM_018475.5(TMEM165):c.434-11A>G
|
rs2109551814
|
|
NM_018475.5(TMEM165):c.43C>T (p.Arg15Trp)
|
|
|
NM_018475.5(TMEM165):c.462C>A (p.Ile154=)
|
|
|
NM_018475.5(TMEM165):c.464C>G (p.Pro155Arg)
|
|
|
NM_018475.5(TMEM165):c.495A>G (p.Val165=)
|
|
|
NM_018475.5(TMEM165):c.507T>A (p.Ile169=)
|
rs191176116
|
|
NM_018475.5(TMEM165):c.527G>A (p.Arg176Gln)
|
|
|
NM_018475.5(TMEM165):c.609+7C>T
|
|
|
NM_018475.5(TMEM165):c.612T>G (p.Phe204Leu)
|
|
|
NM_018475.5(TMEM165):c.639G>A (p.Pro213=)
|
|
|
NM_018475.5(TMEM165):c.690G>C (p.Leu230Phe)
|
rs2109553145
|
|
NM_018475.5(TMEM165):c.712G>A (p.Val238Ile)
|
|
|
NM_018475.5(TMEM165):c.723T>C (p.Leu241=)
|
|
|
NM_018475.5(TMEM165):c.724A>T (p.Thr242Ser)
|
|
|
NM_018475.5(TMEM165):c.733_738del (p.Phe245_Leu246del)
|
|
|
NM_018475.5(TMEM165):c.747G>A (p.Trp249Ter)
|
|
|
NM_018475.5(TMEM165):c.772A>G (p.Ile258Val)
|
|
|
NM_018475.5(TMEM165):c.777A>G (p.Val259=)
|
|
|
NM_018475.5(TMEM165):c.778T>C (p.Leu260=)
|
|
|
NM_018475.5(TMEM165):c.781G>A (p.Ala261Thr)
|
|
|
NM_018475.5(TMEM165):c.792+4_792+5insTATTTGA
|
rs2109553419
|
|
NM_018475.5(TMEM165):c.793-16dup
|
|
|
NM_018475.5(TMEM165):c.811G>T (p.Val271Leu)
|
rs764212150
|
|
NM_018475.5(TMEM165):c.824T>C (p.Val275Ala)
|
rs1455810384
|
|
NM_018475.5(TMEM165):c.82C>G (p.Pro28Ala)
|
|
|
NM_018475.5(TMEM165):c.831C>T (p.His277=)
|
|
|
NM_018475.5(TMEM165):c.833G>A (p.Cys278Tyr)
|
rs2109566525
|
|
NM_018475.5(TMEM165):c.849G>A (p.Leu283=)
|
|
|
NM_018475.5(TMEM165):c.892A>G (p.Arg298Gly)
|
rs1310344895
|
|
NM_018475.5(TMEM165):c.898+16T>C
|
|
|
NM_018475.5(TMEM165):c.898+19A>C
|
|
|
NM_018475.5(TMEM165):c.898+8T>A
|
|
|
NM_018475.5(TMEM165):c.899-14T>C
|
|
|
NM_018475.5(TMEM165):c.899-14TC[3]
|
rs563916696
|
|
NM_018475.5(TMEM165):c.899-6T>G
|
rs2109568314
|
|
NM_018475.5(TMEM165):c.899-9C>G
|
|
|
NM_018475.5(TMEM165):c.8C>T (p.Ala3Val)
|
|
|
NM_018475.5(TMEM165):c.910G>A (p.Gly304Arg)
|
rs886037631
|
|
NM_018475.5(TMEM165):c.929C>T (p.Ala310Val)
|
|
|
NM_018475.5(TMEM165):c.92T>C (p.Val31Ala)
|
rs1720719387
|
|
NM_018475.5(TMEM165):c.952A>G (p.Ile318Val)
|
rs1318388651
|
|
NM_018714.3(COG1):c.1006C>T (p.Arg336Ter)
|
|
|
NM_018714.3(COG1):c.105C>G (p.Arg35=)
|
rs1599320719
|
|
NM_018714.3(COG1):c.1070+5G>A
|
rs1568296260
|
|
NM_018714.3(COG1):c.1091del (p.Asn364fs)
|
|
|
NM_018714.3(COG1):c.1130del (p.Lys377fs)
|
rs2145097019
|
|
NM_018714.3(COG1):c.1137C>T (p.Leu379=)
|
|
|
NM_018714.3(COG1):c.1139C>T (p.Ala380Val)
|
|
|
NM_018714.3(COG1):c.1140G>A (p.Ala380=)
|
|
|
NM_018714.3(COG1):c.1149G>A (p.Arg383=)
|
|
|
NM_018714.3(COG1):c.117C>T (p.Ala39=)
|
|
|
NM_018714.3(COG1):c.1183A>C (p.Thr395Pro)
|
|
|
NM_018714.3(COG1):c.1206A>G (p.Leu402=)
|
|
|
NM_018714.3(COG1):c.1207T>C (p.Cys403Arg)
|
|
|
NM_018714.3(COG1):c.1221G>A (p.Leu407=)
|
|
|
NM_018714.3(COG1):c.125A>C (p.Glu42Ala)
|
|
|
NM_018714.3(COG1):c.1274G>A (p.Arg425Gln)
|
rs150638922
|
|
NM_018714.3(COG1):c.1282-15C>G
|
|
|
NM_018714.3(COG1):c.1288A>G (p.Thr430Ala)
|
|
|
NM_018714.3(COG1):c.1343C>T (p.Ala448Val)
|
rs1372546537
|
|
NM_018714.3(COG1):c.1406ACA[1] (p.Asn470del)
|
rs1354666647
|
|
NM_018714.3(COG1):c.1446C>G (p.Asp482Glu)
|
|
|
NM_018714.3(COG1):c.1456G>A (p.Asp486Asn)
|
|
|
NM_018714.3(COG1):c.148C>T (p.Gln50Ter)
|
|
|
NM_018714.3(COG1):c.1516A>G (p.Lys506Glu)
|
|
|
NM_018714.3(COG1):c.1523A>G (p.Gln508Arg)
|
rs2145097990
|
|
NM_018714.3(COG1):c.1530C>T (p.Ile510=)
|
|
|
NM_018714.3(COG1):c.153G>A (p.Met51Ile)
|
rs976164079
|
|
NM_018714.3(COG1):c.1578G>A (p.Lys526=)
|
|
|
NM_018714.3(COG1):c.1590T>G (p.Asp530Glu)
|
|
|
NM_018714.3(COG1):c.1605C>T (p.Tyr535=)
|
|
|
NM_018714.3(COG1):c.163C>T (p.Arg55Trp)
|
|
|
NM_018714.3(COG1):c.1680C>T (p.Tyr560=)
|
|
|
NM_018714.3(COG1):c.1711C>T (p.Arg571Trp)
|
|
|
NM_018714.3(COG1):c.1742T>C (p.Ile581Thr)
|
rs2145098238
|
|
NM_018714.3(COG1):c.1767A>G (p.Leu589=)
|
rs2145098268
|
|
NM_018714.3(COG1):c.1771A>G (p.Ser591Gly)
|
rs2145098272
|
|
NM_018714.3(COG1):c.1781_1782delinsGT (p.Glu594Gly)
|
rs2145098299
|
|
NM_018714.3(COG1):c.1782G>A (p.Glu594=)
|
rs1037256
|
|
NM_018714.3(COG1):c.1782G>C (p.Glu594Asp)
|
rs1037256
|
|
NM_018714.3(COG1):c.180C>G (p.Ile60Met)
|
|
|
NM_018714.3(COG1):c.1813A>G (p.Ser605Gly)
|
|
|
NM_018714.3(COG1):c.1826A>C (p.His609Pro)
|
|
|
NM_018714.3(COG1):c.189C>A (p.Ala63=)
|
|
|
NM_018714.3(COG1):c.1935G>T (p.Glu645Asp)
|
rs772385793
|
|
NM_018714.3(COG1):c.1952A>G (p.Lys651Arg)
|
|
|
NM_018714.3(COG1):c.1980C>A (p.Ile660=)
|
|
|
NM_018714.3(COG1):c.1988C>T (p.Thr663Ile)
|
rs2145098550
|
|
NM_018714.3(COG1):c.1993G>T (p.Ala665Ser)
|
|
|
NM_018714.3(COG1):c.1A>G (p.Met1Val)
|
|
|
NM_018714.3(COG1):c.2007G>C (p.Glu669Asp)
|
|
|
NM_018714.3(COG1):c.2008G>A (p.Val670Ile)
|
|
|
NM_018714.3(COG1):c.200G>T (p.Gly67Val)
|
rs886053367
|
|
NM_018714.3(COG1):c.2021TCC[1] (p.Leu675del)
|
rs398124346
|
|
NM_018714.3(COG1):c.204G>A (p.Gln68=)
|
|
|
NM_018714.3(COG1):c.2052C>A (p.Val684=)
|
rs2145098651
|
|
NM_018714.3(COG1):c.2057G>T (p.Ser686Ile)
|
|
|
NM_018714.3(COG1):c.2060G>C (p.Ser687Thr)
|
rs1232713937
|
|
NM_018714.3(COG1):c.2116G>C (p.Ala706Pro)
|
|
|
NM_018714.3(COG1):c.2124A>C (p.Ser708=)
|
|
|
NM_018714.3(COG1):c.2183_2184delinsCA (p.Gly728Ala)
|
rs1599328658
|
|
NM_018714.3(COG1):c.2189G>T (p.Ser730Ile)
|
rs2145100344
|
|
NM_018714.3(COG1):c.218C>A (p.Ala73Asp)
|
|
|
NM_018714.3(COG1):c.2199C>G (p.Ser733=)
|
|
|
NM_018714.3(COG1):c.2216C>T (p.Ala739Val)
|
|
|
NM_018714.3(COG1):c.2220+14A>G
|
|
|
NM_018714.3(COG1):c.2220+15T>C
|
|
|
NM_018714.3(COG1):c.2220+15T>G
|
|
|
NM_018714.3(COG1):c.2220+18del
|
rs1246223880
|
|
NM_018714.3(COG1):c.2220+9G>A
|
|
|
NM_018714.3(COG1):c.2221-14_2221-13del
|
rs374132938
|
|
NM_018714.3(COG1):c.2222C>A (p.Pro741Gln)
|
rs200395052
|
|
NM_018714.3(COG1):c.2225C>A (p.Ser742Tyr)
|
|
|
NM_018714.3(COG1):c.2233G>A (p.Val745Ile)
|
rs2061356029
|
|
NM_018714.3(COG1):c.2272C>T (p.Arg758Trp)
|
rs146952271
|
|
NM_018714.3(COG1):c.2361C>G (p.Leu787=)
|
|
|
NM_018714.3(COG1):c.2383-10T>C
|
|
|
NM_018714.3(COG1):c.2383-14G>A
|
rs965867949
|
|
NM_018714.3(COG1):c.2383-17_2383-16inv
|
|
|
NM_018714.3(COG1):c.2392G>A (p.Ala798Thr)
|
|
|
NM_018714.3(COG1):c.2413C>G (p.Arg805Gly)
|
|
|
NM_018714.3(COG1):c.2414G>A (p.Arg805Gln)
|
|
|
NM_018714.3(COG1):c.2484G>A (p.Lys828=)
|
|
|
NM_018714.3(COG1):c.2486G>A (p.Ser829Asn)
|
|
|
NM_018714.3(COG1):c.2492G>A (p.Arg831Gln)
|
|
|
NM_018714.3(COG1):c.2510G>C (p.Arg837Thr)
|
rs2061367152
|
|
NM_018714.3(COG1):c.2515G>C (p.Glu839Gln)
|
|
|
NM_018714.3(COG1):c.2525C>T (p.Thr842Ile)
|
|
|
NM_018714.3(COG1):c.254dup (p.Tyr86fs)
|
|
|
NM_018714.3(COG1):c.2555T>C (p.Phe852Ser)
|
|
|
NM_018714.3(COG1):c.2562G>A (p.Leu854=)
|
|
|
NM_018714.3(COG1):c.2574G>A (p.Thr858=)
|
|
|
NM_018714.3(COG1):c.2575C>T (p.Pro859Ser)
|
rs2145105028
|
|
NM_018714.3(COG1):c.2597A>G (p.His866Arg)
|
rs555212855
|
|
NM_018714.3(COG1):c.2605G>A (p.Val869Met)
|
rs886053370
|
|
NM_018714.3(COG1):c.2606T>G (p.Val869Gly)
|
rs1599331791
|
|
NM_018714.3(COG1):c.2618C>T (p.Ser873Phe)
|
|
|
NM_018714.3(COG1):c.2619+17A>T
|
|
|
NM_018714.3(COG1):c.2620-13T>C
|
rs2145106371
|
|
NM_018714.3(COG1):c.2620-9G>C
|
rs2061375147
|
|
NM_018714.3(COG1):c.2626_2629dup (p.Gly877fs)
|
rs1568298983
|
|
NM_018714.3(COG1):c.2634G>A (p.Leu878=)
|
|
|
NM_018714.3(COG1):c.2659G>A (p.Ala887Thr)
|
|
|
NM_018714.3(COG1):c.2664C>T (p.Pro888=)
|
|
|
NM_018714.3(COG1):c.2665dup (p.Arg889fs)
|
rs747606976
|
|
NM_018714.3(COG1):c.2675C>G (p.Thr892Arg)
|
rs751977123
|
|
NM_018714.3(COG1):c.2676G>A (p.Thr892=)
|
|
|
NM_018714.3(COG1):c.2681A>G (p.Asn894Ser)
|
|
|
NM_018714.3(COG1):c.2686C>T (p.Gln896Ter)
|
|
|
NM_018714.3(COG1):c.26C>T (p.Ala9Val)
|
rs759369353
|
|
NM_018714.3(COG1):c.2715A>G (p.Ala905=)
|
|
|
NM_018714.3(COG1):c.2719A>T (p.Ser907Cys)
|
rs1468033790
|
|
NM_018714.3(COG1):c.2729+3_2729+9del
|
rs771485996
|
|
NM_018714.3(COG1):c.272G>T (p.Arg91Leu)
|
|
|
NM_018714.3(COG1):c.2730-18T>C
|
|
|
NM_018714.3(COG1):c.2747T>C (p.Leu916Pro)
|
|
|
NM_018714.3(COG1):c.2791G>T (p.Glu931Ter)
|
rs774479733
|
|
NM_018714.3(COG1):c.2805+13_2805+20del
|
|
|
NM_018714.3(COG1):c.2805+18G>C
|
|
|
NM_018714.3(COG1):c.2808T>C (p.Val936=)
|
rs1382677421
|
|
NM_018714.3(COG1):c.2816dup (p.Ala940fs)
|
rs776834154
|
|
NM_018714.3(COG1):c.2817G>A (p.Pro939=)
|
|
|
NM_018714.3(COG1):c.2825C>T (p.Ser942Phe)
|
|
|
NM_018714.3(COG1):c.2840C>T (p.Pro947Leu)
|
rs755921036
|
|
NM_018714.3(COG1):c.2862C>T (p.Phe954=)
|
|
|
NM_018714.3(COG1):c.2867A>C (p.Gln956Pro)
|
rs2145112419
|
|
NM_018714.3(COG1):c.2872G>A (p.Val958Ile)
|
|
|
NM_018714.3(COG1):c.2883A>C (p.Glu961Asp)
|
rs2145112491
|
|
NM_018714.3(COG1):c.2928T>C (p.Ser976=)
|
|
|
NM_018714.3(COG1):c.305G>C (p.Arg102Pro)
|
rs1305832253
|
|
NM_018714.3(COG1):c.308C>T (p.Ala103Val)
|
|
|
NM_018714.3(COG1):c.315+10C>G
|
rs1188495993
|
|
NM_018714.3(COG1):c.315+18C>T
|
|
|
NM_018714.3(COG1):c.315+9C>G
|
|
|
NM_018714.3(COG1):c.316-6C>T
|
|
|
NM_018714.3(COG1):c.316-9C>T
|
|
|
NM_018714.3(COG1):c.327A>G (p.Pro109=)
|
|
|
NM_018714.3(COG1):c.334_336del (p.Glu112del)
|
|
|
NM_018714.3(COG1):c.403A>T (p.Met135Leu)
|
|
|
NM_018714.3(COG1):c.423C>G (p.Leu141=)
|
|
|
NM_018714.3(COG1):c.423C>T (p.Leu141=)
|
|
|
NM_018714.3(COG1):c.426C>T (p.His142=)
|
|
|
NM_018714.3(COG1):c.448T>A (p.Cys150Ser)
|
|
|
NM_018714.3(COG1):c.494G>A (p.Arg165Gln)
|
rs777018719
|
|
NM_018714.3(COG1):c.509T>C (p.Leu170Pro)
|
rs2145092629
|
|
NM_018714.3(COG1):c.510C>T (p.Leu170=)
|
|
|
NM_018714.3(COG1):c.511T>C (p.Ser171Pro)
|
|
|
NM_018714.3(COG1):c.514C>T (p.Arg172Trp)
|
|
|
NM_018714.3(COG1):c.542_543inv (p.Ala181Val)
|
|
|
NM_018714.3(COG1):c.549C>T (p.Ala183=)
|
rs1302286767
|
|
NM_018714.3(COG1):c.552C>T (p.Ser184=)
|
|
|
NM_018714.3(COG1):c.559C>T (p.Arg187Trp)
|
|
|
NM_018714.3(COG1):c.560+16G>A
|
|
|
NM_018714.3(COG1):c.560+18A>C
|
|
|
NM_018714.3(COG1):c.560+8G>A
|
|
|
NM_018714.3(COG1):c.560G>A (p.Arg187Gln)
|
|
|
NM_018714.3(COG1):c.561-11_561-9del
|
|
|
NM_018714.3(COG1):c.561-1G>A
|
|
|
NM_018714.3(COG1):c.561-6T>C
|
rs1197833925
|
|
NM_018714.3(COG1):c.561-6T>G
|
|
|
NM_018714.3(COG1):c.565A>G (p.Thr189Ala)
|
rs193248551
|
|
NM_018714.3(COG1):c.573G>T (p.Leu191=)
|
|
|
NM_018714.3(COG1):c.599G>A (p.Cys200Tyr)
|
rs2145093008
|
|
NM_018714.3(COG1):c.599G>C (p.Cys200Ser)
|
|
|
NM_018714.3(COG1):c.622G>A (p.Val208Met)
|
|
|
NM_018714.3(COG1):c.626C>T (p.Ala209Val)
|
|
|
NM_018714.3(COG1):c.628G>A (p.Glu210Lys)
|
|
|
NM_018714.3(COG1):c.628G>C (p.Glu210Gln)
|
rs567533944
|
|
NM_018714.3(COG1):c.649C>G (p.Leu217Val)
|
|
|
NM_018714.3(COG1):c.701G>A (p.Arg234Lys)
|
|
|
NM_018714.3(COG1):c.733C>T (p.Pro245Ser)
|
rs1486692795
|
|
NM_018714.3(COG1):c.742+14C>G
|
|
|
NM_018714.3(COG1):c.743-4T>C
|
|
|
NM_018714.3(COG1):c.750T>C (p.Gly250=)
|
|
|
NM_018714.3(COG1):c.810T>C (p.His270=)
|
|
|
NM_018714.3(COG1):c.833_835del (p.Glu278del)
|
|
|
NM_018714.3(COG1):c.847G>A (p.Asp283Asn)
|
rs2145093457
|
|
NM_018714.3(COG1):c.850C>T (p.Pro284Ser)
|
|
|
NM_018714.3(COG1):c.903G>C (p.Gln301His)
|
rs117208167
|
|
NM_018714.3(COG1):c.907C>T (p.Pro303Ser)
|
rs750659961
|
|
NM_018714.3(COG1):c.913+18C>A
|
rs2145093567
|
|
NM_018714.3(COG1):c.913+9T>G
|
|
|
NM_018714.3(COG1):c.913G>A (p.Gly305Arg)
|
|
|
NM_018714.3(COG1):c.914-8C>A
|
rs761810775
|
|
NM_018714.3(COG1):c.914-8C>G
|
|
|
NM_018714.3(COG1):c.930C>T (p.Val310=)
|
rs2145096162
|
|
NM_018714.3(COG1):c.967C>A (p.His323Asn)
|
rs369505856
|
|
NM_018714.3(COG1):c.980C>T (p.Ser327Phe)
|
rs2145096200
|
|
NM_018714.3(COG1):c.985G>A (p.Val329Ile)
|
rs778591192
|
|
NM_018714.3(COG1):c.987C>T (p.Val329=)
|
|
|
NM_020751.3(COG6):c.*1093G>T
|
rs114184435
|
|
NM_020751.3(COG6):c.*315del
|
rs142947196
|
|
NM_020751.3(COG6):c.*52G>A
|
rs773641894
|
|
NM_020751.3(COG6):c.*889T>A
|
rs374465943
|
|
NM_020751.3(COG6):c.*889T>C
|
rs374465943
|
|
NM_020751.3(COG6):c.*987A>G
|
rs750527031
|
|
NM_020751.3(COG6):c.-10G>C
|
rs772205293
|
|
NM_020751.3(COG6):c.1036G>A (p.Val346Ile)
|
rs1876874289
|
|
NM_020751.3(COG6):c.1043A>G (p.His348Arg)
|
rs2138012022
|
|
NM_020751.3(COG6):c.1066C>T (p.Pro356Ser)
|
rs886050226
|
|
NM_020751.3(COG6):c.1105C>T (p.Pro369Ser)
|
|
|
NM_020751.3(COG6):c.1135A>C (p.Asn379His)
|
rs576607031
|
|
NM_020751.3(COG6):c.1138CTC[1] (p.Leu381del)
|
rs756077038
|
|
NM_020751.3(COG6):c.1140C>G (p.Leu380=)
|
|
|
NM_020751.3(COG6):c.1167-24A>G
|
rs730882236
|
|
NM_020751.3(COG6):c.1239dup (p.Phe414fs)
|
rs1555277827
|
|
NM_020751.3(COG6):c.1242C>T (p.Phe414=)
|
rs2138033067
|
|
NM_020751.3(COG6):c.1286T>C (p.Val429Ala)
|
|
|
NM_020751.3(COG6):c.12C>T (p.Gly4=)
|
rs886050223
|
|
NM_020751.3(COG6):c.1357T>C (p.Leu453=)
|
rs2138074922
|
|
NM_020751.3(COG6):c.1362A>G (p.Ala454=)
|
|
|
NM_020751.3(COG6):c.1426T>C (p.Cys476Arg)
|
|
|
NM_020751.3(COG6):c.1459G>A (p.Val487Ile)
|
rs200410517
|
|
NM_020751.3(COG6):c.153+11C>A
|
rs371609631
|
|
NM_020751.3(COG6):c.153+392A>G
|
|
|
NM_020751.3(COG6):c.154-2A>G
|
rs1593402927
|
|
NM_020751.3(COG6):c.1542A>G (p.Leu514=)
|
|
|
NM_020751.3(COG6):c.1587C>T (p.Ile529=)
|
|
|
NM_020751.3(COG6):c.1602C>T (p.Asp534=)
|
|
|
NM_020751.3(COG6):c.1646G>T (p.Gly549Val)
|
rs387906959
|
|
NM_020751.3(COG6):c.1672C>T (p.Gln558Ter)
|
|
|
NM_020751.3(COG6):c.1692+12G>C
|
|
|
NM_020751.3(COG6):c.1692+14T>C
|
|
|
NM_020751.3(COG6):c.1692+19C>T
|
rs200316624
|
|
NM_020751.3(COG6):c.1692+9A>G
|
|
|
NM_020751.3(COG6):c.1693-4del
|
rs66629036
|
|
NM_020751.3(COG6):c.172A>G (p.Lys58Glu)
|
|
|
NM_020751.3(COG6):c.1746+2T>G
|
rs1555280464
|
|
NM_020751.3(COG6):c.1747-19A>G
|
rs776576163
|
|
NM_020751.3(COG6):c.1786T>C (p.Leu596=)
|
|
|
NM_020751.3(COG6):c.1810C>T (p.Leu604=)
|
rs370035888
|
|
NM_020751.3(COG6):c.1826+3A>C
|
rs768907183
|
|
NM_020751.3(COG6):c.1851A>C (p.Thr617=)
|
rs886050229
|
|
NM_020751.3(COG6):c.1883A>G (p.Tyr628Cys)
|
|
|
NM_020751.3(COG6):c.1884T>G (p.Tyr628Ter)
|
|
|
NM_020751.3(COG6):c.1910A>C (p.Glu637Ala)
|
rs1284095057
|
|
NM_020751.3(COG6):c.1941_1944del (p.Ser648fs)
|
|
|
NM_020751.3(COG6):c.1A>G (p.Met1Val)
|
rs752232501
|
|
NM_020751.3(COG6):c.203G>A (p.Ser68Asn)
|
|
|
NM_020751.3(COG6):c.24G>A (p.Val8=)
|
|
|
NM_020751.3(COG6):c.252del (p.Ala85fs)
|
rs2137942150
|
|
NM_020751.3(COG6):c.26T>A (p.Val9Asp)
|
rs2137932050
|
|
NM_020751.3(COG6):c.28G>A (p.Ala10Thr)
|
rs3812882
|
|
NM_020751.3(COG6):c.299A>T (p.Glu100Val)
|
rs866336771
|
|
NM_020751.3(COG6):c.370-18A>T
|
|
|
NM_020751.3(COG6):c.37G>A (p.Ala13Thr)
|
rs886050224
|
|
NM_020751.3(COG6):c.388C>T (p.Gln130Ter)
|
rs1259563970
|
|
NM_020751.3(COG6):c.535A>G (p.Thr179Ala)
|
rs1322763277
|
|
NM_020751.3(COG6):c.53A>G (p.Asn18Ser)
|
rs2137932213
|
|
NM_020751.3(COG6):c.540G>A (p.Glu180=)
|
rs1593418085
|
|
NM_020751.3(COG6):c.602G>T (p.Arg201Leu)
|
rs770351109
|
|
NM_020751.3(COG6):c.623+1G>T
|
|
|
NM_020751.3(COG6):c.624-3dup
|
rs397756552
|
|
NM_020751.3(COG6):c.651_654del (p.Leu217fs)
|
|
|
NM_020751.3(COG6):c.663G>A (p.Thr221=)
|
rs746682554
|
|
NM_020751.3(COG6):c.694+7G>T
|
|
|
NM_020751.3(COG6):c.695G>A (p.Ser232Asn)
|
rs780879386
|
|
NM_020751.3(COG6):c.70G>T (p.Ala24Ser)
|
rs539907116
|
|
NM_020751.3(COG6):c.723A>G (p.Ser241=)
|
|
|
NM_020751.3(COG6):c.726del (p.Cys242fs)
|
rs1593421620
|
|
NM_020751.3(COG6):c.739G>A (p.Val247Ile)
|
|
|
NM_020751.3(COG6):c.766C>A (p.Gln256Lys)
|
|
|
NM_020751.3(COG6):c.784T>C (p.Tyr262His)
|
rs1876359351
|
|
NM_020751.3(COG6):c.785A>G (p.Tyr262Cys)
|
rs756826030
|
|
NM_020751.3(COG6):c.788+10T>A
|
rs1876360494
|
|
NM_020751.3(COG6):c.788+5G>A
|
|
|
NM_020751.3(COG6):c.797T>C (p.Leu266Ser)
|
rs752939865
|
|
NM_020751.3(COG6):c.80C>G (p.Thr27Ser)
|
rs776763438
|
|
NM_020751.3(COG6):c.828A>C (p.Thr276=)
|
rs886050225
|
|
NM_020751.3(COG6):c.84G>C (p.Ser28=)
|
rs374783198
|
|
NM_020751.3(COG6):c.851C>G (p.Ala284Gly)
|
rs148869108
|
|
NM_020751.3(COG6):c.851C>T (p.Ala284Val)
|
rs148869108
|
|
NM_020751.3(COG6):c.855C>T (p.Leu285=)
|
rs544831978
|
|
NM_020751.3(COG6):c.86C>T (p.Ala29Val)
|
rs1566165324
|
|
NM_020751.3(COG6):c.870C>T (p.Pro290=)
|
|
|
NM_020751.3(COG6):c.871G>A (p.Gly291Arg)
|
|
|
NM_020751.3(COG6):c.956C>T (p.Thr319Ile)
|
rs1428739783
|
|
NM_020751.3(COG6):c.981A>G (p.Glu327=)
|
rs2138007330
|
|
NM_020751.3(COG6):c.989T>C (p.Leu330Ser)
|
rs1876747862
|
|
NM_020751.3(COG6):c.993G>A (p.Lys331=)
|
|
|
NM_020751.3(COG6):c.9G>C (p.Glu3Asp)
|
rs1016478271
|
|
NM_022154.5(SLC39A8):c.[1019T>A];[112G>C]
|
|
|
NM_022154.5(SLC39A8):c.[97G>A;1004G>C]
|
|
|
NM_022154.5(SLC39A8):c.[97G>A;1004G>C];[c.610G>T]
|
|
|
NM_025191.4(EDEM3):c.1090del (p.Asp364fs)
|
|
|
NM_025191.4(EDEM3):c.1366G>A (p.Asp456Asn)
|
rs2102081233
|
|
NM_025191.4(EDEM3):c.1369del (p.Arg457fs)
|
rs2102081225
|
|
NM_025191.4(EDEM3):c.1382_1385del (p.Phe461fs)
|
rs1650312698
|
|
NM_025191.4(EDEM3):c.1692-28A>T
|
|
|
NM_025191.4(EDEM3):c.1859del (p.Ile620fs)
|
rs2102068802
|
|
NM_025191.4(EDEM3):c.2001dup (p.Ala668fs)
|
rs1650036294
|
|
NM_025191.4(EDEM3):c.295G>A (p.Ala99Thr)
|
|
|
NM_025191.4(EDEM3):c.853+1G>T
|
rs2102093642
|
|
NM_025191.4(EDEM3):c.940A>T (p.Arg314Ter)
|
rs2102089507
|
|
NM_031431.4(COG3):c.109G>C (p.Asp37His)
|
|
|
NM_031431.4(COG3):c.124T>C (p.Ser42Pro)
|
|
|
NM_032357.4(CCDC115):c.305G>A (p.Arg102Gln)
|
|
|
NM_032357.4(CCDC115):c.31G>T (p.Asp11Tyr)
|
rs869025583
|
|
NM_032357.4(CCDC115):c.469C>T (p.Arg157Cys)
|
|
|
NM_032382.5(COG8):c.*26+10G>T
|
rs886052250
|
|
NM_032382.5(COG8):c.*26+543C>T
|
rs2011689121
|
|
NM_032382.5(COG8):c.1072C>A (p.Arg358=)
|
|
|
NM_032382.5(COG8):c.1095T>C (p.Gly365=)
|
|
|
NM_032382.5(COG8):c.1212C>T (p.Ala404=)
|
rs886052251
|
|
NM_032382.5(COG8):c.1258C>T (p.Pro420Ser)
|
rs2012085868
|
|
NM_032382.5(COG8):c.12G>T (p.Ala4=)
|
rs756986120
|
|
NM_032382.5(COG8):c.132C>G (p.Pro44=)
|
|
|
NM_032382.5(COG8):c.133G>C (p.Asp45His)
|
|
|
NM_032382.5(COG8):c.1340A>G (p.Asn447Ser)
|
rs759388730
|
|
NM_032382.5(COG8):c.1396del (p.Glu466fs)
|
rs771045945
|
|
NM_032382.5(COG8):c.1413+12C>G
|
rs977274573
|
|
NM_032382.5(COG8):c.1413+1G>A
|
rs1264383808
|
|
NM_032382.5(COG8):c.1468G>T (p.Gly490Trp)
|
rs202134146
|
|
NM_032382.5(COG8):c.147C>T (p.Tyr49=)
|
rs1597227398
|
|
NM_032382.5(COG8):c.1550_1556del (p.Leu517fs)
|
rs2143335414
|
|
NM_032382.5(COG8):c.1551T>G (p.Leu517=)
|
|
|
NM_032382.5(COG8):c.1583-1G>A
|
rs1287837570
|
|
NM_032382.5(COG8):c.1583-6G>A
|
|
|
NM_032382.5(COG8):c.1583-6G>T
|
|
|
NM_032382.5(COG8):c.1611C>G (p.Tyr537Ter)
|
rs121434387
|
|
NM_032382.5(COG8):c.1643T>C (p.Ile548Thr)
|
|
|
NM_032382.5(COG8):c.164G>C (p.Gly55Ala)
|
|
|
NM_032382.5(COG8):c.1680G>A (p.Glu560=)
|
rs1301680843
|
|
NM_032382.5(COG8):c.1680_1681del (p.Glu560fs)
|
rs780534334
|
|
NM_032382.5(COG8):c.1686T>C (p.Leu562=)
|
|
|
NM_032382.5(COG8):c.1687_1688del (p.Phe563fs)
|
rs766244312
|
|
NM_032382.5(COG8):c.1715C>A (p.Pro572His)
|
rs2143319909
|
|
NM_032382.5(COG8):c.1755G>C (p.Glu585Asp)
|
rs1443367772
|
|
NM_032382.5(COG8):c.1794A>C (p.Gly598=)
|
|
|
NM_032382.5(COG8):c.1799G>A (p.Arg600Gln)
|
|
|
NM_032382.5(COG8):c.1807A>G (p.Thr603Ala)
|
rs2011769207
|
|
NM_032382.5(COG8):c.1833dup (p.Pro612fs)
|
rs1597221180
|
|
NM_032382.5(COG8):c.192G>T (p.Glu64Asp)
|
|
|
NM_032382.5(COG8):c.193C>A (p.Pro65Thr)
|
|
|
NM_032382.5(COG8):c.240C>T (p.Arg80=)
|
|
|
NM_032382.5(COG8):c.24A>G (p.Pro8=)
|
rs538076531
|
|
NM_032382.5(COG8):c.252C>T (p.Phe84=)
|
|
|
NM_032382.5(COG8):c.308T>A (p.Leu103Gln)
|
rs2012390315
|
|
NM_032382.5(COG8):c.357C>G (p.Pro119=)
|
|
|
NM_032382.5(COG8):c.378-11A>G
|
|
|
NM_032382.5(COG8):c.419G>A (p.Arg140Gln)
|
rs375728590
|
|
NM_032382.5(COG8):c.440A>G (p.Asn147Ser)
|
rs543723269
|
|
NM_032382.5(COG8):c.474T>G (p.Ile158Met)
|
|
|
NM_032382.5(COG8):c.507T>G (p.Ser169Arg)
|
|
|
NM_032382.5(COG8):c.540C>T (p.Tyr180=)
|
|
|
NM_032382.5(COG8):c.585+1G>T
|
rs1597225261
|
|
NM_032382.5(COG8):c.585+8C>T
|
rs562484375
|
|
NM_032382.5(COG8):c.598G>C (p.Glu200Gln)
|
|
|
NM_032382.5(COG8):c.645A>G (p.Gln215=)
|
|
|
NM_032382.5(COG8):c.663G>C (p.Gln221His)
|
rs2012143678
|
|
NM_032382.5(COG8):c.66G>A (p.Glu22=)
|
|
|
NM_032382.5(COG8):c.731G>A (p.Arg244Lys)
|
rs773732393
|
|
NM_032382.5(COG8):c.766C>G (p.Arg256Gly)
|
rs370783972
|
|
NM_032382.5(COG8):c.766C>T (p.Arg256Trp)
|
|
|
NM_032382.5(COG8):c.810T>C (p.His270=)
|
|
|
NM_032382.5(COG8):c.825C>T (p.Ile275=)
|
rs147094162
|
|
NM_032382.5(COG8):c.888_890del (p.Glu296del)
|
|
|
NM_032382.5(COG8):c.901C>T (p.Pro301Ser)
|
rs2012118988
|
|
NM_032382.5(COG8):c.913G>T (p.Gly305Cys)
|
rs1567431851
|
|
NM_032382.5(COG8):c.931G>A (p.Glu311Lys)
|
rs538921538
|
|
NM_032382.5(COG8):c.980T>G (p.Leu327Arg)
|
|
|
NM_152464.3(TMEM199):c.20C>A (p.Ala7Glu)
|
rs369488804
|
|
NM_152464.3(TMEM199):c.376-1G>A
|
rs869025587
|
|
NM_152464.3(TMEM199):c.40G>C (p.Ala14Pro)
|
rs869025586
|
|
NM_153603.4(COG7):c.-141C>G
|
rs1964294802
|
|
NM_153603.4(COG7):c.1000C>T (p.Pro334Ser)
|
|
|
NM_153603.4(COG7):c.1005C>T (p.His335=)
|
rs532636981
|
|
NM_153603.4(COG7):c.1009+14C>T
|
|
|
NM_153603.4(COG7):c.1009+15C>T
|
|
|
NM_153603.4(COG7):c.1009C>T (p.His337Tyr)
|
|
|
NM_153603.4(COG7):c.1010-18A>G
|
|
|
NM_153603.4(COG7):c.103G>A (p.Gly35Ser)
|
rs2142101336
|
|
NM_153603.4(COG7):c.1046A>G (p.Asp349Gly)
|
rs1036433681
|
|
NM_153603.4(COG7):c.1056T>G (p.Tyr352Ter)
|
|
|
NM_153603.4(COG7):c.1058A>G (p.Asp353Gly)
|
|
|
NM_153603.4(COG7):c.1062A>G (p.Pro354=)
|
|
|
NM_153603.4(COG7):c.1064A>T (p.Tyr355Phe)
|
|
|
NM_153603.4(COG7):c.1068A>G (p.Lys356=)
|
|
|
NM_153603.4(COG7):c.1071C>A (p.Pro357=)
|
|
|
NM_153603.4(COG7):c.1089C>T (p.Gly363=)
|
rs539939894
|
|
NM_153603.4(COG7):c.108C>A (p.His36Gln)
|
|
|
NM_153603.4(COG7):c.1090G>A (p.Asp364Asn)
|
rs764545607
|
|
NM_153603.4(COG7):c.110C>T (p.Ala37Val)
|
|
|
NM_153603.4(COG7):c.1137+11A>G
|
rs74012174
|
|
NM_153603.4(COG7):c.1138-15G>A
|
|
|
NM_153603.4(COG7):c.1138-17C>T
|
|
|
NM_153603.4(COG7):c.1138-4C>A
|
|
|
NM_153603.4(COG7):c.1138-8C>T
|
|
|
NM_153603.4(COG7):c.1149A>G (p.Glu383=)
|
rs2142075318
|
|
NM_153603.4(COG7):c.1150G>T (p.Val384Leu)
|
rs966821454
|
|
NM_153603.4(COG7):c.1177C>T (p.His393Tyr)
|
|
|
NM_153603.4(COG7):c.117C>T (p.Thr39=)
|
|
|
NM_153603.4(COG7):c.11C>G (p.Ser4Cys)
|
|
|
NM_153603.4(COG7):c.1200T>A (p.Gly400=)
|
|
|
NM_153603.4(COG7):c.120G>A (p.Leu40=)
|
|
|
NM_153603.4(COG7):c.1215C>T (p.Ala405=)
|
|
|
NM_153603.4(COG7):c.1227C>T (p.Cys409=)
|
|
|
NM_153603.4(COG7):c.123G>A (p.Val41=)
|
|
|
NM_153603.4(COG7):c.1241A>G (p.Asn414Ser)
|
|
|
NM_153603.4(COG7):c.1255dup (p.Cys419fs)
|
|
|
NM_153603.4(COG7):c.1257C>T (p.Cys419=)
|
|
|
NM_153603.4(COG7):c.1259G>C (p.Gly420Ala)
|
|
|
NM_153603.4(COG7):c.1259G>T (p.Gly420Val)
|
rs773279166
|
|
NM_153603.4(COG7):c.1260C>T (p.Gly420=)
|
|
|
NM_153603.4(COG7):c.1261C>G (p.Leu421Val)
|
rs1596929657
|
|
NM_153603.4(COG7):c.1281C>T (p.Ser427=)
|
|
|
NM_153603.4(COG7):c.1283T>C (p.Leu428Pro)
|
|
|
NM_153603.4(COG7):c.1292+12G>A
|
|
|
NM_153603.4(COG7):c.1293-4G>A
|
|
|
NM_153603.4(COG7):c.1293-5G>A
|
|
|
NM_153603.4(COG7):c.1293G>A (p.Lys431=)
|
rs554871778
|
|
NM_153603.4(COG7):c.1293G>T (p.Lys431Asn)
|
|
|
NM_153603.4(COG7):c.1305T>C (p.Asp435=)
|
rs1019861391
|
|
NM_153603.4(COG7):c.1307T>G (p.Phe436Cys)
|
|
|
NM_153603.4(COG7):c.1311C>T (p.Thr437=)
|
|
|
NM_153603.4(COG7):c.1330C>T (p.Arg444Ter)
|
|
|
NM_153603.4(COG7):c.1365C>T (p.Asn455=)
|
|
|
NM_153603.4(COG7):c.1375del (p.Gln459fs)
|
|
|
NM_153603.4(COG7):c.1383T>C (p.Asp461=)
|
|
|
NM_153603.4(COG7):c.1389G>A (p.Thr463=)
|
|
|
NM_153603.4(COG7):c.1401C>G (p.Asn467Lys)
|
|
|
NM_153603.4(COG7):c.1409+15G>A
|
|
|
NM_153603.4(COG7):c.1409+6C>G
|
|
|
NM_153603.4(COG7):c.1409+7C>G
|
rs373366651
|
|
NM_153603.4(COG7):c.1409+7C>T
|
rs373366651
|
|
NM_153603.4(COG7):c.1410-17dup
|
|
|
NM_153603.4(COG7):c.1410-2A>T
|
|
|
NM_153603.4(COG7):c.1422C>T (p.Thr474=)
|
|
|
NM_153603.4(COG7):c.1426G>A (p.Gly476Arg)
|
|
|
NM_153603.4(COG7):c.1438C>T (p.Arg480Trp)
|
|
|
NM_153603.4(COG7):c.1448G>A (p.Gly483Glu)
|
|
|
NM_153603.4(COG7):c.1456G>A (p.Glu486Lys)
|
|
|
NM_153603.4(COG7):c.1472A>T (p.Asn491Ile)
|
|
|
NM_153603.4(COG7):c.1474A>T (p.Arg492Trp)
|
rs2142070391
|
|
NM_153603.4(COG7):c.1476-16A>G
|
|
|
NM_153603.4(COG7):c.1476-1G>T
|
rs1555493029
|
|
NM_153603.4(COG7):c.1476-7A>G
|
|
|
NM_153603.4(COG7):c.1482G>A (p.Leu494=)
|
|
|
NM_153603.4(COG7):c.1494G>A (p.Gly498=)
|
|
|
NM_153603.4(COG7):c.1498dup (p.Tyr500fs)
|
|
|
NM_153603.4(COG7):c.1503A>G (p.Leu501=)
|
rs200335241
|
|
NM_153603.4(COG7):c.1511C>G (p.Ser504Cys)
|
rs1031815684
|
|
NM_153603.4(COG7):c.1515C>T (p.Cys505=)
|
|
|
NM_153603.4(COG7):c.1522C>T (p.Arg508Trp)
|
|
|
NM_153603.4(COG7):c.1524G>A (p.Arg508=)
|
|
|
NM_153603.4(COG7):c.1527C>T (p.Ser509=)
|
rs759004348
|
|
NM_153603.4(COG7):c.1528C>A (p.Leu510Met)
|
|
|
NM_153603.4(COG7):c.1560C>T (p.Asp520=)
|
|
|
NM_153603.4(COG7):c.1563G>C (p.Lys521Asn)
|
|
|
NM_153603.4(COG7):c.1575C>T (p.Ala525=)
|
|
|
NM_153603.4(COG7):c.1593A>G (p.Glu531=)
|
rs1555493003
|
|
NM_153603.4(COG7):c.1623T>A (p.Ala541=)
|
|
|
NM_153603.4(COG7):c.162C>A (p.Ala54=)
|
|
|
NM_153603.4(COG7):c.1635T>C (p.Ser545=)
|
|
|
NM_153603.4(COG7):c.1640T>A (p.Met547Lys)
|
|
|
NM_153603.4(COG7):c.1645A>G (p.Ile549Val)
|
|
|
NM_153603.4(COG7):c.1646T>C (p.Ile549Thr)
|
|
|
NM_153603.4(COG7):c.1662+13del
|
|
|
NM_153603.4(COG7):c.1662+7G>A
|
|
|
NM_153603.4(COG7):c.1662+9C>T
|
|
|
NM_153603.4(COG7):c.1663-15A>G
|
|
|
NM_153603.4(COG7):c.1674A>T (p.Ser558=)
|
|
|
NM_153603.4(COG7):c.167A>G (p.Glu56Gly)
|
rs977110347
|
|
NM_153603.4(COG7):c.169+18C>G
|
|
|
NM_153603.4(COG7):c.169+18del
|
rs140548275
|
|
NM_153603.4(COG7):c.169+20G>A
|
|
|
NM_153603.4(COG7):c.169+4A>C
|
rs1555497568
|
|
NM_153603.4(COG7):c.169+8G>T
|
|
|
NM_153603.4(COG7):c.1691T>G (p.Leu564Arg)
|
|
|
NM_153603.4(COG7):c.1699C>T (p.Pro567Ser)
|
|
|
NM_153603.4(COG7):c.170-10_170-9del
|
rs71379679
|
|
NM_153603.4(COG7):c.170-7A>G
|
rs1555496968
|
|
NM_153603.4(COG7):c.170-9del
|
rs71379679
|
|
NM_153603.4(COG7):c.1709C>T (p.Ala570Val)
|
|
|
NM_153603.4(COG7):c.1710G>A (p.Ala570=)
|
|
|
NM_153603.4(COG7):c.1746T>C (p.Ala582=)
|
|
|
NM_153603.4(COG7):c.1755C>A (p.Ser585=)
|
|
|
NM_153603.4(COG7):c.1765C>T (p.Arg589Cys)
|
|
|
NM_153603.4(COG7):c.1776A>G (p.Gln592=)
|
|
|
NM_153603.4(COG7):c.177T>G (p.Ser59Arg)
|
|
|
NM_153603.4(COG7):c.1784T>A (p.Leu595Ter)
|
|
|
NM_153603.4(COG7):c.1794G>A (p.Ser598=)
|
|
|
NM_153603.4(COG7):c.1803+15G>A
|
|
|
NM_153603.4(COG7):c.1803+16A>G
|
|
|
NM_153603.4(COG7):c.1804-14C>A
|
rs768020092
|
|
NM_153603.4(COG7):c.1804-14C>T
|
|
|
NM_153603.4(COG7):c.1808G>A (p.Trp603Ter)
|
|
|
NM_153603.4(COG7):c.1815G>A (p.Thr605=)
|
|
|
NM_153603.4(COG7):c.1820G>C (p.Gly607Ala)
|
rs1444115658
|
|
NM_153603.4(COG7):c.1824C>T (p.Ile608=)
|
|
|
NM_153603.4(COG7):c.1826G>A (p.Gly609Glu)
|
|
|
NM_153603.4(COG7):c.1872C>T (p.Leu624=)
|
|
|
NM_153603.4(COG7):c.1873G>A (p.Glu625Lys)
|
|
|
NM_153603.4(COG7):c.1873G>C (p.Glu625Gln)
|
rs150027511
|
|
NM_153603.4(COG7):c.1888-13dup
|
|
|
NM_153603.4(COG7):c.1888-15T>C
|
|
|
NM_153603.4(COG7):c.1890C>A (p.Ile630=)
|
rs199904223
|
|
NM_153603.4(COG7):c.1890C>T (p.Ile630=)
|
|
|
NM_153603.4(COG7):c.189C>T (p.Leu63=)
|
rs1237076520
|
|
NM_153603.4(COG7):c.1914C>G (p.Pro638=)
|
rs111414595
|
|
NM_153603.4(COG7):c.1920T>C (p.Asn640=)
|
|
|
NM_153603.4(COG7):c.1946A>G (p.Asp649Gly)
|
|
|
NM_153603.4(COG7):c.1947C>T (p.Asp649=)
|
rs765301112
|
|
NM_153603.4(COG7):c.1949C>G (p.Ser650Cys)
|
rs1963230461
|
|
NM_153603.4(COG7):c.1965A>G (p.Ala655=)
|
|
|
NM_153603.4(COG7):c.1978A>G (p.Lys660Glu)
|
|
|
NM_153603.4(COG7):c.1981C>T (p.Leu661=)
|
|
|
NM_153603.4(COG7):c.19C>T (p.Leu7=)
|
|
|
NM_153603.4(COG7):c.1A>G (p.Met1Val)
|
rs1051352713
|
|
NM_153603.4(COG7):c.2002+18C>T
|
|
|
NM_153603.4(COG7):c.2002+7G>A
|
|
|
NM_153603.4(COG7):c.2003-13del
|
|
|
NM_153603.4(COG7):c.2003-14_2003-12del
|
|
|
NM_153603.4(COG7):c.2003-20T>C
|
|
|
NM_153603.4(COG7):c.2003-3C>T
|
|
|
NM_153603.4(COG7):c.2003-9T>G
|
|
|
NM_153603.4(COG7):c.2014C>T (p.Pro672Ser)
|
|
|
NM_153603.4(COG7):c.2032G>T (p.Ala678Ser)
|
rs1596904416
|
|
NM_153603.4(COG7):c.2056G>A (p.Ala686Thr)
|
|
|
NM_153603.4(COG7):c.2067A>G (p.Thr689=)
|
|
|
NM_153603.4(COG7):c.2088G>A (p.Ala696=)
|
|
|
NM_153603.4(COG7):c.2094A>G (p.Leu698=)
|
|
|
NM_153603.4(COG7):c.2099T>C (p.Ile700Thr)
|
|
|
NM_153603.4(COG7):c.2106G>C (p.Glu702Asp)
|
|
|
NM_153603.4(COG7):c.210C>A (p.Leu70=)
|
|
|
NM_153603.4(COG7):c.211C>T (p.Arg71Cys)
|
|
|
NM_153603.4(COG7):c.2122G>A (p.Ala708Thr)
|
|
|
NM_153603.4(COG7):c.212G>A (p.Arg71His)
|
|
|
NM_153603.4(COG7):c.2131C>T (p.Leu711=)
|
|
|
NM_153603.4(COG7):c.2146+10del
|
rs748589611
|
|
NM_153603.4(COG7):c.2146+8C>A
|
|
|
NM_153603.4(COG7):c.2146+9C>G
|
|
|
NM_153603.4(COG7):c.2146+9C>T
|
|
|
NM_153603.4(COG7):c.2147-10_2147-9delinsTT
|
|
|
NM_153603.4(COG7):c.2147-11C>T
|
|
|
NM_153603.4(COG7):c.2147-9C>T
|
|
|
NM_153603.4(COG7):c.2153T>C (p.Leu718Pro)
|
|
|
NM_153603.4(COG7):c.2160C>T (p.Asn720=)
|
|
|
NM_153603.4(COG7):c.2161G>A (p.Val721Met)
|
|
|
NM_153603.4(COG7):c.2185C>T (p.Pro729Ser)
|
|
|
NM_153603.4(COG7):c.2195C>T (p.Thr732Ile)
|
|
|
NM_153603.4(COG7):c.21G>A (p.Leu7=)
|
|
|
NM_153603.4(COG7):c.2208C>T (p.Ile736=)
|
rs762124832
|
|
NM_153603.4(COG7):c.2209G>A (p.Val737Met)
|
|
|
NM_153603.4(COG7):c.2217A>G (p.Leu739=)
|
rs778874347
|
|
NM_153603.4(COG7):c.2232T>A (p.Pro744=)
|
rs1963141946
|
|
NM_153603.4(COG7):c.2243G>A (p.Arg748Lys)
|
|
|
NM_153603.4(COG7):c.2269C>T (p.Arg757Cys)
|
|
|
NM_153603.4(COG7):c.2270G>A (p.Arg757His)
|
rs368733148
|
|
NM_153603.4(COG7):c.2281A>G (p.Thr761Ala)
|
rs1963140690
|
|
NM_153603.4(COG7):c.2287G>T (p.Ala763Ser)
|
|
|
NM_153603.4(COG7):c.2293A>G (p.Met765Val)
|
|
|
NM_153603.4(COG7):c.229A>G (p.Lys77Glu)
|
|
|
NM_153603.4(COG7):c.2304G>A (p.Val768=)
|
|
|
NM_153603.4(COG7):c.2304G>C (p.Val768=)
|
|
|
NM_153603.4(COG7):c.2T>C (p.Met1Thr)
|
rs1555497604
|
|
NM_153603.4(COG7):c.300C>T (p.Asp100=)
|
|
|
NM_153603.4(COG7):c.318+1G>A
|
rs945537370
|
|
NM_153603.4(COG7):c.318+20C>A
|
|
|
NM_153603.4(COG7):c.318+5T>C
|
|
|
NM_153603.4(COG7):c.319-19C>T
|
|
|
NM_153603.4(COG7):c.319G>A (p.Val107Met)
|
rs550355383
|
|
NM_153603.4(COG7):c.323dup (p.Leu108fs)
|
rs797044712
|
|
NM_153603.4(COG7):c.336C>T (p.Asp112=)
|
|
|
NM_153603.4(COG7):c.366C>G (p.Ala122=)
|
|
|
NM_153603.4(COG7):c.366C>T (p.Ala122=)
|
rs74012178
|
|
NM_153603.4(COG7):c.373C>G (p.Leu125Val)
|
|
|
NM_153603.4(COG7):c.37G>T (p.Val13Leu)
|
|
|
NM_153603.4(COG7):c.399G>A (p.Thr133=)
|
|
|
NM_153603.4(COG7):c.408C>T (p.Ala136=)
|
|
|
NM_153603.4(COG7):c.412A>G (p.Ile138Val)
|
|
|
NM_153603.4(COG7):c.422C>T (p.Thr141Ile)
|
|
|
NM_153603.4(COG7):c.435+16A>G
|
|
|
NM_153603.4(COG7):c.435+20G>T
|
|
|
NM_153603.4(COG7):c.436-11G>A
|
|
|
NM_153603.4(COG7):c.436-12G>A
|
rs2142094162
|
|
NM_153603.4(COG7):c.436-13T>G
|
|
|
NM_153603.4(COG7):c.436-4C>T
|
rs1964120151
|
|
NM_153603.4(COG7):c.436-9C>G
|
|
|
NM_153603.4(COG7):c.438C>G (p.Asp146Glu)
|
|
|
NM_153603.4(COG7):c.443C>G (p.Ala148Gly)
|
|
|
NM_153603.4(COG7):c.455C>T (p.Ala152Val)
|
|
|
NM_153603.4(COG7):c.468T>C (p.Gly156=)
|
|
|
NM_153603.4(COG7):c.538C>T (p.Leu180=)
|
|
|
NM_153603.4(COG7):c.564C>T (p.Ala188=)
|
|
|
NM_153603.4(COG7):c.570A>G (p.Pro190=)
|
|
|
NM_153603.4(COG7):c.577G>A (p.Val193Ile)
|
rs1596955037
|
|
NM_153603.4(COG7):c.601G>T (p.Val201Leu)
|
|
|
NM_153603.4(COG7):c.604+13T>G
|
|
|
NM_153603.4(COG7):c.604+20C>T
|
|
|
NM_153603.4(COG7):c.604+3G>A
|
|
|
NM_153603.4(COG7):c.605-13G>T
|
rs1415853002
|
|
NM_153603.4(COG7):c.605A>G (p.Asp202Gly)
|
|
|
NM_153603.4(COG7):c.614A>C (p.Lys205Thr)
|
|
|
NM_153603.4(COG7):c.628G>A (p.Val210Met)
|
rs202038832
|
|
NM_153603.4(COG7):c.630G>A (p.Val210=)
|
|
|
NM_153603.4(COG7):c.642T>C (p.Ile214=)
|
rs1362703585
|
|
NM_153603.4(COG7):c.646C>T (p.Arg216Trp)
|
rs751918725
|
|
NM_153603.4(COG7):c.664G>A (p.Ala222Thr)
|
|
|
NM_153603.4(COG7):c.668A>G (p.Tyr223Cys)
|
rs377542270
|
|
NM_153603.4(COG7):c.668A>T (p.Tyr223Phe)
|
|
|
NM_153603.4(COG7):c.66G>A (p.Arg22=)
|
|
|
NM_153603.4(COG7):c.677A>G (p.Lys226Arg)
|
|
|
NM_153603.4(COG7):c.684C>T (p.His228=)
|
|
|
NM_153603.4(COG7):c.687+17G>A
|
|
|
NM_153603.4(COG7):c.687+18A>T
|
|
|
NM_153603.4(COG7):c.687+1G>A
|
|
|
NM_153603.4(COG7):c.688-10G>A
|
|
|
NM_153603.4(COG7):c.688-18T>G
|
|
|
NM_153603.4(COG7):c.688-6C>T
|
rs2142087500
|
|
NM_153603.4(COG7):c.698del (p.Leu232_Leu233insTer)
|
|
|
NM_153603.4(COG7):c.734C>T (p.Ser245Phe)
|
|
|
NM_153603.4(COG7):c.743G>A (p.Arg248Gln)
|
|
|
NM_153603.4(COG7):c.748C>T (p.Leu250Phe)
|
|
|
NM_153603.4(COG7):c.74C>T (p.Ser25Phe)
|
|
|
NM_153603.4(COG7):c.758T>A (p.Leu253His)
|
rs1413062130
|
|
NM_153603.4(COG7):c.75C>T (p.Ser25=)
|
|
|
NM_153603.4(COG7):c.792A>G (p.Gln264=)
|
|
|
NM_153603.4(COG7):c.795C>G (p.Ile265Met)
|
|
|
NM_153603.4(COG7):c.802G>T (p.Ala268Ser)
|
|
|
NM_153603.4(COG7):c.810+16del
|
|
|
NM_153603.4(COG7):c.810+17G>A
|
|
|
NM_153603.4(COG7):c.810+20del
|
|
|
NM_153603.4(COG7):c.811-14C>T
|
|
|
NM_153603.4(COG7):c.811-16C>T
|
|
|
NM_153603.4(COG7):c.811-7A>G
|
|
|
NM_153603.4(COG7):c.818A>G (p.Gln273Arg)
|
rs746662903
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NM_153603.4(COG7):c.81G>A (p.Glu27=)
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NM_153603.4(COG7):c.822G>A (p.Lys274=)
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NM_153603.4(COG7):c.844C>T (p.Leu282=)
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NM_153603.4(COG7):c.845T>C (p.Leu282Pro)
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NM_153603.4(COG7):c.848T>G (p.Leu283Arg)
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NM_153603.4(COG7):c.879G>A (p.Ser293=)
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NM_153603.4(COG7):c.882G>A (p.Leu294=)
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NM_153603.4(COG7):c.901G>A (p.Gly301Ser)
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NM_153603.4(COG7):c.904G>C (p.Val302Leu)
|
rs116314856
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NM_153603.4(COG7):c.909G>A (p.Glu303=)
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NM_153603.4(COG7):c.90C>T (p.Ser30=)
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NM_153603.4(COG7):c.922G>A (p.Glu308Lys)
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NM_153603.4(COG7):c.938G>A (p.Arg313Lys)
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NM_153603.4(COG7):c.951C>A (p.Phe317Leu)
|
rs199739443
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NM_153603.4(COG7):c.957C>T (p.Asp319=)
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NM_153603.4(COG7):c.964G>A (p.Ala322Thr)
|
rs201584244
|
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NM_153603.4(COG7):c.966C>T (p.Ala322=)
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NM_153603.4(COG7):c.972C>G (p.Phe324Leu)
|
rs747262700
|
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NM_153603.4(COG7):c.979G>A (p.Gly327Ser)
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NM_153603.4(COG7):c.984G>A (p.Leu328=)
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NM_153603.4(COG7):c.995T>G (p.Leu332Arg)
|
rs756142167
|
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NM_153603.4(COG7):c.999C>T (p.Leu333=)
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NM_181581.3(DUS4L):c.-111+131C>T
|
rs114481539
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NM_181581.3(DUS4L):c.-111+71G>A
|
rs886061879
|
|
NM_181581.3(DUS4L):c.-111+72G>C
|
rs886061880
|
|
NM_181581.3(DUS4L):c.-162C>A
|
rs886061877
|
|
NM_181581.3(DUS4L):c.-186G>A
|
rs778346804
|
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NM_181581.3(DUS4L):c.-275C>G
|
rs541648926
|
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NM_181581.3(DUS4L):c.-275C>T
|
rs541648926
|
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NM_181581.3(DUS4L):c.-301T>A
|
rs886061876
|
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NM_181581.3(DUS4L):c.-332A>C
|
|
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NM_181581.3(DUS4L):c.-332A>T
|
rs748922374
|
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NM_181581.3(DUS4L):c.-339_-338del
|
rs1049832940
|
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NM_181581.3(DUS4L):c.-342C>T
|
rs893438249
|
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NM_181581.3(DUS4L):c.-347C>T
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NM_181581.3(DUS4L):c.-348C>T
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NM_181581.3(DUS4L):c.-349_-348insGGCCC
|
rs1584977236
|
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SLC35A2:c.15_91+48delinsA
|
rs1557044030
|
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