ClinVar Miner

List of variants studied for congenital disorder of glycosylation type II

Included ClinVar conditions (28):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3518
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HGVS dbSNP gnomAD frequency
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
NM_006302.3(MOGS):c.580-27_580-18del rs748839262
NM_006302.3(MOGS):c.595G>A (p.Ala199Thr)
NM_006302.3(MOGS):c.602C>T (p.Pro201Leu)
NM_006302.3(MOGS):c.609C>A (p.Val203=)
NM_006302.3(MOGS):c.615G>A (p.Leu205=) rs2103981798
NM_006302.3(MOGS):c.617TCT[1] (p.Phe207del) rs1671983338
NM_006302.3(MOGS):c.630G>A (p.Val210=)
NM_006302.3(MOGS):c.660G>C (p.Glu220Asp) rs759959086
NM_006302.3(MOGS):c.662T>C (p.Val221Ala)
NM_006302.3(MOGS):c.671A>C (p.Lys224Thr) rs1671981391
NM_006302.3(MOGS):c.676C>A (p.Gln226Lys)
NM_006302.3(MOGS):c.692G>T (p.Ser231Ile)
NM_006302.3(MOGS):c.704G>A (p.Ser235Asn)
NM_006302.3(MOGS):c.712G>C (p.Gly238Arg)
NM_006302.3(MOGS):c.71G>C (p.Arg24Pro) rs750801906
NM_006302.3(MOGS):c.737C>T (p.Pro246Leu) rs1671978796
NM_006302.3(MOGS):c.752G>A (p.Gly251Glu) rs2103981412
NM_006302.3(MOGS):c.755A>T (p.Asp252Val)
NM_006302.3(MOGS):c.758C>T (p.Thr253Ile) rs2103981399
NM_006302.3(MOGS):c.760G>A (p.Ala254Thr) rs752804401
NM_006302.3(MOGS):c.762C>T (p.Ala254=) rs1469560105
NM_006302.3(MOGS):c.767A>C (p.Lys256Thr)
NM_006302.3(MOGS):c.776+20G>A
NM_006302.3(MOGS):c.776+9G>A rs766902133
NM_006302.3(MOGS):c.777-18dup
NM_006302.3(MOGS):c.777-7C>G
NM_006302.3(MOGS):c.777-8C>A rs780530394
NM_006302.3(MOGS):c.78C>G (p.Gly26=) rs1428639603
NM_006302.3(MOGS):c.7C>G (p.Arg3Gly)
NM_006302.3(MOGS):c.7C>T (p.Arg3Trp) rs1246940304
NM_006302.3(MOGS):c.800A>C (p.Asn267Thr) rs1671971903
NM_006302.3(MOGS):c.810G>T (p.Leu270=) rs1284777296
NM_006302.3(MOGS):c.816G>C (p.Leu272=)
NM_006302.3(MOGS):c.81C>G (p.Pro27=)
NM_006302.3(MOGS):c.828G>A (p.Met276Ile) rs1558566109
NM_006302.3(MOGS):c.82G>T (p.Gly28Trp)
NM_006302.3(MOGS):c.831A>G (p.Val277=)
NM_006302.3(MOGS):c.832_833del (p.Lys278fs)
NM_006302.3(MOGS):c.839G>C (p.Arg280Pro)
NM_006302.3(MOGS):c.83G>A (p.Gly28Glu) rs2103986028
NM_006302.3(MOGS):c.867C>T (p.Pro289=) rs750782882
NM_006302.3(MOGS):c.874G>C (p.Ala292Pro) rs763544524
NM_006302.3(MOGS):c.874G>T (p.Ala292Ser)
NM_006302.3(MOGS):c.876C>A (p.Ala292=) rs531051730
NM_006302.3(MOGS):c.876C>T (p.Ala292=)
NM_006302.3(MOGS):c.880C>G (p.Pro294Ala) rs548283434
NM_006302.3(MOGS):c.881del (p.Pro294fs)
NM_006302.3(MOGS):c.884A>G (p.Glu295Gly)
NM_006302.3(MOGS):c.896G>T (p.Gly299Val) rs2103980536
NM_006302.3(MOGS):c.89G>C (p.Arg30Pro) rs1257979415
NM_006302.3(MOGS):c.900G>T (p.Leu300Phe) rs886745696
NM_006302.3(MOGS):c.905G>A (p.Gly302Glu) rs781577738
NM_006302.3(MOGS):c.906A>G (p.Gly302=)
NM_006302.3(MOGS):c.90G>A (p.Arg30=)
NM_006302.3(MOGS):c.918G>A (p.Trp306Ter)
NM_006302.3(MOGS):c.925A>G (p.Arg309Gly) rs1558565949
NM_006302.3(MOGS):c.937G>A (p.Gly313Arg) rs2103980326
NM_006302.3(MOGS):c.939G>A (p.Gly313=) rs2103980315
NM_006302.3(MOGS):c.944G>A (p.Gly315Glu)
NM_006302.3(MOGS):c.947A>T (p.Gln316Leu) rs1553379896
NM_006302.3(MOGS):c.949G>A (p.Gly317Arg)
NM_006302.3(MOGS):c.94_95insTCCG (p.Gly32fs)
NM_006302.3(MOGS):c.950G>A (p.Gly317Glu)
NM_006302.3(MOGS):c.97C>A (p.Arg33=)
NM_006302.3(MOGS):c.992C>T (p.Ser331Phe) rs1572920656
NM_006348.3(COG5):c.57T>C (p.Arg19=)
NM_006348.3(COG5):c.59_61CTG[2] (p.Ala22del)
NM_006348.3(COG5):c.62C>G (p.Ala21Gly)
NM_006348.3(COG5):c.66T>C (p.Ala22=)
NM_006348.3(COG5):c.69C>A (p.Asp23Glu)
NM_006348.5(COG5):c.*165C>T rs1798496835
NM_006348.5(COG5):c.*220G>A rs1281689688
NM_006348.5(COG5):c.*237T>C rs577491628
NM_006348.5(COG5):c.*306C>A rs1798486114
NM_006348.5(COG5):c.*468C>A rs886061871
NM_006348.5(COG5):c.*498T>G rs1798468428
NM_006348.5(COG5):c.*52G>A rs937117794
NM_006348.5(COG5):c.*589G>A rs1422526244
NM_006348.5(COG5):c.*612G>A rs6958137
NM_006348.5(COG5):c.*612G>C rs6958137
NM_006348.5(COG5):c.*862C>G rs1258415041
NM_006348.5(COG5):c.-12G>A rs1363800282
NM_006348.5(COG5):c.-13G>T rs915925086
NM_006348.5(COG5):c.-1C>G
NM_006348.5(COG5):c.-20T>A rs762377555
NM_006348.5(COG5):c.-2A>C
NM_006348.5(COG5):c.-8C>T
NM_006348.5(COG5):c.-9C>T
NM_006348.5(COG5):c.1014A>G (p.Glu338=)
NM_006348.5(COG5):c.1015G>T (p.Glu339Ter)
NM_006348.5(COG5):c.1021G>A (p.Val341Ile)
NM_006348.5(COG5):c.1026+12G>A rs1474242413
NM_006348.5(COG5):c.1026+17A>G
NM_006348.5(COG5):c.1027-11G>A
NM_006348.5(COG5):c.1027-12T>C
NM_006348.5(COG5):c.1027-16del rs1165979060
NM_006348.5(COG5):c.1027-17T>C
NM_006348.5(COG5):c.1027G>T (p.Asp343Tyr) rs1240588560
NM_006348.5(COG5):c.1055T>C (p.Phe352Ser) rs2129027601
NM_006348.5(COG5):c.1069A>G (p.Thr357Ala) rs1809589810
NM_006348.5(COG5):c.1072C>G (p.Gln358Glu)
NM_006348.5(COG5):c.1078C>G (p.Leu360Val) rs762031095
NM_006348.5(COG5):c.1078C>T (p.Leu360Phe) rs762031095
NM_006348.5(COG5):c.107A>G (p.Asp36Gly) rs1385437505
NM_006348.5(COG5):c.1089A>G (p.Gln363=)
NM_006348.5(COG5):c.1097T>C (p.Met366Thr)
NM_006348.5(COG5):c.1108+10C>G
NM_006348.5(COG5):c.1108+11T>C
NM_006348.5(COG5):c.1108+13C>T rs772490075
NM_006348.5(COG5):c.1109-18T>C
NM_006348.5(COG5):c.1109-4G>A
NM_006348.5(COG5):c.1115_1123del (p.Met372_Leu374del)
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)
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
NM_153603.4(COG7):c.81G>A (p.Glu27=)
NM_153603.4(COG7):c.822G>A (p.Lys274=)
NM_153603.4(COG7):c.844C>T (p.Leu282=)
NM_153603.4(COG7):c.845T>C (p.Leu282Pro)
NM_153603.4(COG7):c.848T>G (p.Leu283Arg)
NM_153603.4(COG7):c.879G>A (p.Ser293=)
NM_153603.4(COG7):c.882G>A (p.Leu294=)
NM_153603.4(COG7):c.901G>A (p.Gly301Ser)
NM_153603.4(COG7):c.904G>C (p.Val302Leu) rs116314856
NM_153603.4(COG7):c.909G>A (p.Glu303=)
NM_153603.4(COG7):c.90C>T (p.Ser30=)
NM_153603.4(COG7):c.922G>A (p.Glu308Lys)
NM_153603.4(COG7):c.938G>A (p.Arg313Lys)
NM_153603.4(COG7):c.951C>A (p.Phe317Leu) rs199739443
NM_153603.4(COG7):c.957C>T (p.Asp319=)
NM_153603.4(COG7):c.964G>A (p.Ala322Thr) rs201584244
NM_153603.4(COG7):c.966C>T (p.Ala322=)
NM_153603.4(COG7):c.972C>G (p.Phe324Leu) rs747262700
NM_153603.4(COG7):c.979G>A (p.Gly327Ser)
NM_153603.4(COG7):c.984G>A (p.Leu328=)
NM_153603.4(COG7):c.995T>G (p.Leu332Arg) rs756142167
NM_153603.4(COG7):c.999C>T (p.Leu333=)
NM_181581.3(DUS4L):c.-111+131C>T rs114481539
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
NM_181581.3(DUS4L):c.-275C>G rs541648926
NM_181581.3(DUS4L):c.-275C>T rs541648926
NM_181581.3(DUS4L):c.-301T>A rs886061876
NM_181581.3(DUS4L):c.-332A>C
NM_181581.3(DUS4L):c.-332A>T rs748922374
NM_181581.3(DUS4L):c.-339_-338del rs1049832940
NM_181581.3(DUS4L):c.-342C>T rs893438249
NM_181581.3(DUS4L):c.-347C>T
NM_181581.3(DUS4L):c.-348C>T
NM_181581.3(DUS4L):c.-349_-348insGGCCC rs1584977236
SLC35A2:c.15_91+48delinsA rs1557044030

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