ClinVar Miner

List of variants studied for inherited deficiency anemia by Illumina Laboratory Services, Illumina

Included ClinVar conditions (30):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1184
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HGVS dbSNP gnomAD frequency
NM_001081.4(CUBN):c.8150C>G (p.Ser2717Trp) rs2796835 0.99996
NM_001081.4(CUBN):c.6485G>A (p.Cys2162Tyr) rs1276712 0.99748
NM_015702.3(MMADHC):c.*89T>C rs6742604 0.99742
NM_006996.3(SLC19A2):c.*60G>A rs2678166 0.98575
NM_000373.4(UMPS):c.*4138T>G rs593292 0.93851
NM_000617.3(SLC11A2):c.*1031G>A rs150909 0.90829
NM_000617.3(SLC11A2):c.1576-14A>G rs161044 0.90828
NM_000617.3(SLC11A2):c.-110G>T rs6580779 0.90822
NM_001081.4(CUBN):c.2791+9C>T rs10795440 0.85809
NM_015702.3(MMADHC):c.453G>A (p.Gln151=) rs11545261 0.78682
NM_001081.4(CUBN):c.4563T>A (p.Ile1521=) rs1801229 0.73095
NM_001081.4(CUBN):c.4675C>T (p.Pro1559Ser) rs1801231 0.73090
NM_001081.4(CUBN):c.758T>C (p.Phe253Ser) rs1801222 0.72079
NM_001081.4(CUBN):c.9843A>G (p.Thr3281=) rs703064 0.70381
NM_000355.3(TCN2):c.-181A>G rs2240433 0.64970
NM_000355.4(TCN2):c.776G>C (p.Arg259Pro) rs1801198 0.63049
NM_080669.6(SLC46A1):c.*4780C>T rs1128161 0.59678
NM_080669.6(SLC46A1):c.*4884G>T rs1128162 0.59676
NM_080669.6(SLC46A1):c.*4030C>T rs8079943 0.59408
NM_080669.6(SLC46A1):c.*3947G>A rs8081240 0.59034
NM_080669.6(SLC46A1):c.*1407C>T rs2239908 0.58189
NM_001063.4(TF):c.-2A>G rs1130459 0.57926
NM_001081.4(CUBN):c.1165C>A (p.Pro389Thr) rs1801224 0.57919
NM_018368.4(LMBRD1):c.*341C>T rs9185 0.56654
NC_000003.12:g.124730444A>G rs1139538 0.54345
NM_000373.3(UMPS):c.-110A>G rs2279198 0.54337
NM_080669.6(SLC46A1):c.*928A>G rs2239907 0.53216
NM_000617.3(SLC11A2):c.*1876T>C rs149411 0.53019
NM_080669.6(SLC46A1):c.*3062C>A rs2239911 0.51926
NM_000373.4(UMPS):c.*726C>T rs649652 0.51631
NM_001081.4(CUBN):c.5856A>G (p.Ser1952=) rs1801234 0.50897
NM_015702.3(MMADHC):c.*126A>G rs6923 0.49161
NM_000617.3(SLC11A2):c.34+11G>A rs427020 0.46181
NC_000003.12:g.124730405T>C rs2279199 0.44281
NM_001081.4(CUBN):c.2487G>A (p.Ser829=) rs1801225 0.34517
NM_001081.4(CUBN):c.*601A>G rs780635 0.33593
NM_000096.4(CP):c.2662-12T>C rs16861582 0.33387
NM_018368.4(LMBRD1):c.1407T>A (p.Asp469Glu) rs12648 0.32715
NM_000096.4(CP):c.2286-15del rs143522213 0.30978
NM_000355.4(TCN2):c.*444C>T rs10418 0.26603
NM_001063.4(TF):c.1572G>C (p.Leu524=) rs8649 0.26591
NM_000373.4(UMPS):c.*1211C>A rs11706118 0.26274
NM_001063.4(TF):c.624G>A (p.Ser208=) rs12769 0.26134
NM_000373.4(UMPS):c.*1711T>G rs10934684 0.24960
NM_000373.4(UMPS):c.*4278G>A rs11927687 0.24793
NM_000373.4(UMPS):c.*3589C>T rs10934685 0.24694
NM_006996.3(SLC19A2):c.*967A>G rs16862199 0.24080
NM_001081.4(CUBN):c.939C>T (p.Asn313=) rs1801223 0.21191
NM_000096.4(CP):c.*769G>A rs1053669 0.19723
NM_001081.4(CUBN):c.5343-8C>A rs2271463 0.19092
NM_000373.4(UMPS):c.1320C>T (p.Gly440=) rs13146 0.17670
NM_000373.4(UMPS):c.*3152G>A rs1979413 0.17658
NM_000373.4(UMPS):c.638G>C (p.Gly213Ala) rs1801019 0.17658
NM_000373.4(UMPS):c.*1051G>T rs2242248 0.17657
NM_000373.4(UMPS):c.*3183dup rs11443775 0.17648
NM_000373.4(UMPS):c.*2995A>G rs1979411 0.17646
NM_000373.4(UMPS):c.*725A>T rs2242247 0.17625
NM_000373.4(UMPS):c.*3990A>T rs77082052 0.17624
NM_000373.4(UMPS):c.*2614G>A rs4677940 0.17342
NM_001081.4(CUBN):c.6124+8C>T rs2271461 0.17332
NM_006996.3(SLC19A2):c.-4C>T rs2072757 0.16749
NM_000373.4(UMPS):c.*3026G>A rs1979412 0.16689
NM_001081.4(CUBN):c.9030T>C (p.Ala3010=) rs1801241 0.16648
NM_000617.3(SLC11A2):c.*390G>A rs224446 0.16154
NM_001849.4(COL6A2):c.2979C>T (p.Arg993=) rs6652 0.14487
NM_000617.3(SLC11A2):c.*358A>G rs2285230 0.14298
NM_000617.3(SLC11A2):c.1254T>C (p.Ile418=) rs1048230 0.14293
NM_000617.3(SLC11A2):c.*1273G>A rs11169654 0.14282
NM_000355.3(TCN2):c.-250C>T rs5753231 0.14215
NM_000617.3(SLC11A2):c.607+12G>A rs224454 0.14139
NM_000355.4(TCN2):c.*127C>T rs12160073 0.13925
NM_001849.4(COL6A2):c.2724A>G (p.Thr908=) rs9977394 0.13855
NM_000355.4(TCN2):c.*82C>T rs12169610 0.13762
NM_000355.4(TCN2):c.67A>G (p.Ile23Val) rs9606756 0.13702
NM_001081.4(CUBN):c.5803A>G (p.Ser1935Gly) rs41289305 0.13356
NM_001063.4(TF):c.1765C>T (p.Pro589Ser) rs1049296 0.13332
NM_001081.4(CUBN):c.9005A>G (p.Glu3002Gly) rs1801240 0.13166
NM_001081.4(CUBN):c.6459G>C (p.Leu2153Phe) rs62619939 0.12797
NM_000355.4(TCN2):c.1043C>T (p.Ser348Phe) rs9621049 0.12714
NM_080669.6(SLC46A1):c.*2853G>A rs739439 0.12712
NM_000355.4(TCN2):c.*225A>T rs2072195 0.12516
NM_001081.4(CUBN):c.*134G>A rs780636 0.12332
NM_032383.5(HPS3):c.*172G>A rs34511277 0.11672
NM_032383.5(HPS3):c.*128A>G rs73019023 0.11195
NM_001063.4(TF):c.739C>T (p.Leu247=) rs1799852 0.10437
NM_005142.3(CBLIF):c.68A>G (p.Gln23Arg) rs35211634 0.09973
NM_206965.2(FTCD):c.1470C>T (p.Gly490=) rs10432965 0.09606
NM_001081.4(CUBN):c.3522C>T (p.Gly1174=) rs1873469 0.09173
NM_000373.4(UMPS):c.*56del rs3836305 0.09036
NM_001081.4(CUBN):c.7662A>G (p.Pro2554=) rs3740165 0.08317
NM_001849.4(COL6A2):c.*116T>C rs3087667 0.08255
NM_001849.4(COL6A2):c.2803G>A (p.Gly935Arg) rs35548026 0.08193
NM_001081.4(CUBN):c.2188C>T (p.His730Tyr) rs7905349 0.08051
NM_001063.3(TF):c.-84G>T rs8177186 0.07960
NM_001081.4(CUBN):c.8950A>G (p.Ile2984Val) rs1801239 0.07706
NM_000373.4(UMPS):c.*1319G>A rs821375 0.07438
NM_000373.4(UMPS):c.*4430C>T rs591963 0.07331
NM_001081.4(CUBN):c.5518G>A (p.Gly1840Ser) rs2271462 0.07196
NM_000355.4(TCN2):c.643C>T (p.Arg215Trp) rs35838082 0.07162
NM_001081.4(CUBN):c.5134C>T (p.Leu1712=) rs2271468 0.07161
NM_001849.4(COL6A2):c.*158C>T rs11554666 0.06989
NM_001081.4(CUBN):c.10295C>G (p.Thr3432Ser) rs7898873 0.06787
NM_001081.4(CUBN):c.618C>T (p.Tyr206=) rs41289313 0.06126
NM_001081.4(CUBN):c.1245T>C (p.Gly415=) rs12571671 0.05965
NM_006996.3(SLC19A2):c.*1814G>A rs12091844 0.05951
NM_001063.4(TF):c.804T>C (p.His268=) rs8177232 0.05865
NM_005142.3(CBLIF):c.246C>T (p.Ser82=) rs35792306 0.05846
NM_001081.4(CUBN):c.5304C>T (p.Ile1768=) rs61841454 0.05795
NM_001849.4(COL6A2):c.*61G>A rs1043801 0.05523
NM_000355.4(TCN2):c.1196G>A (p.Arg399Gln) rs4820889 0.05200
NM_000096.4(CP):c.782-14C>T rs34067682 0.05131
NM_000617.3(SLC11A2):c.*1215A>C rs17125172 0.05066
NM_001081.4(CUBN):c.7913-11A>G rs7088988 0.05036
NM_001063.4(TF):c.829G>A (p.Gly277Ser) rs1799899 0.04529
NM_000096.4(CP):c.1950A>C (p.Gly650=) rs1053709 0.04222
NM_001081.4(CUBN):c.109A>C (p.Ile37Leu) rs76788243 0.03753
NM_000355.4(TCN2):c.1127T>C (p.Leu376Ser) rs1131603 0.03712
NM_080669.6(SLC46A1):c.*3266G>A rs73273104 0.03547
NM_000096.4(CP):c.2991T>C (p.His997=) rs34394958 0.03057
NM_001081.4(CUBN):c.3417A>G (p.Leu1139=) rs1801228 0.02872
NM_000373.4(UMPS):c.*3537G>A rs606369 0.02705
NM_000373.4(UMPS):c.*4486G>A rs591886 0.02695
NM_000373.4(UMPS):c.*4485G>T rs591896 0.02694
NM_005142.3(CBLIF):c.764A>G (p.Asn255Ser) rs35867471 0.02593
NM_000355.4(TCN2):c.1023G>A (p.Pro341=) rs76802001 0.02514
NM_000373.4(UMPS):c.*4906G>C rs702039 0.02508
NM_001081.4(CUBN):c.8635C>A (p.Leu2879Ile) rs1801238 0.02483
NM_001081.4(CUBN):c.2791+14C>T rs111781659 0.02354
NM_000096.4(CP):c.*1157C>T rs11537809 0.02347
NM_001081.4(CUBN):c.196G>A (p.Gly66Arg) rs12259370 0.02267
NM_015702.3(MMADHC):c.-49T>C rs79997772 0.02222
NM_000096.4(CP):c.1652C>T (p.Thr551Ile) rs61733458 0.02154
NM_001849.4(COL6A2):c.3043A>C (p.Ile1015Leu) rs11910483 0.02152
NM_006996.3(SLC19A2):c.1215G>A (p.Thr405=) rs61049753 0.02028
NM_001081.4(CUBN):c.7724C>G (p.Pro2575Arg) rs3740168 0.02019
NM_080669.6(SLC46A1):c.*3785T>C rs117451747 0.02019
NM_000096.4(CP):c.*137C>T rs34228141 0.02012
NM_001081.4(CUBN):c.2791+6A>C rs78549445 0.01999
NM_000355.4(TCN2):c.*382C>T rs56076607 0.01762
NM_018368.4(LMBRD1):c.980+11T>C rs114726590 0.01756
NM_001081.4(CUBN):c.2571C>T (p.Asn857=) rs17432826 0.01751
NM_001081.4(CUBN):c.10265C>T (p.Thr3422Ile) rs1801230 0.01713
NM_000373.4(UMPS):c.*3414A>G rs115977637 0.01658
NM_001081.4(CUBN):c.8902G>C (p.Glu2968Gln) rs45569534 0.01626
NM_015702.3(MMADHC):c.478+6T>G rs13402787 0.01622
NM_001081.4(CUBN):c.*305T>G rs143326344 0.01612
NM_000373.4(UMPS):c.1038A>G (p.Pro346=) rs17843835 0.01610
NM_001081.4(CUBN):c.*781C>T rs115080396 0.01607
NM_001081.4(CUBN):c.5924C>T (p.Pro1975Leu) rs41289303 0.01542
NM_000096.4(CP):c.1099C>T (p.Arg367Cys) rs34624984 0.01447
NM_000096.4(CP):c.1209-15T>A rs35465173 0.01446
NM_001081.4(CUBN):c.*93C>A rs111644764 0.01367
NM_000096.4(CP):c.*768T>C rs35805816 0.01348
NM_001081.4(CUBN):c.9565A>G (p.Ile3189Val) rs111265129 0.01345
NM_000355.4(TCN2):c.265T>C (p.Phe89Leu) rs35915865 0.01306
NM_001063.4(TF):c.1602C>T (p.Tyr534=) rs7845 0.01304
NM_000373.4(UMPS):c.*4739G>T rs73858830 0.01271
NM_000373.4(UMPS):c.*993A>T rs74704429 0.01265
NM_000096.4(CP):c.2378G>A (p.Arg793His) rs115552500 0.01239
NM_001081.4(CUBN):c.*151G>A rs76742384 0.01235
NM_001063.4(TF):c.887A>G (p.Asp296Gly) rs8177238 0.01230
NM_001063.4(TF):c.1614C>T (p.Gly538=) rs8177286 0.01173
NM_000373.4(UMPS):c.1050T>A (p.Val350=) rs2291078 0.01154
NM_001849.4(COL6A2):c.2592G>A (p.Thr864=) rs1042930 0.01149
NM_000373.4(UMPS):c.*28A>G rs3772810 0.01145
NM_000373.4(UMPS):c.*983C>T rs11706036 0.01142
NM_000373.4(UMPS):c.*3376C>T rs76151694 0.01141
NM_000373.4(UMPS):c.*4252G>T rs117707217 0.01141
NM_000373.4(UMPS):c.*526A>G rs2242246 0.01140
NM_000373.4(UMPS):c.*4717C>T rs117624716 0.01139
NM_000373.4(UMPS):c.*1326C>A rs2242249 0.01137
NM_000373.4(UMPS):c.*4078T>C rs13315593 0.01135
NM_000373.4(UMPS):c.1336A>G (p.Ile446Val) rs3772809 0.01116
NM_018368.4(LMBRD1):c.801C>T (p.Arg267=) rs34327883 0.01106
NM_080669.6(SLC46A1):c.*729G>A rs41297903 0.01106
NM_001063.4(TF):c.582A>G (p.Pro194=) rs8177226 0.01102
NM_015702.3(MMADHC):c.412G>A (p.Glu138Lys) rs61746421 0.01067
NM_015702.3(MMADHC):c.428G>T (p.Ser143Ile) rs34886916 0.01066
NM_000617.3(SLC11A2):c.34+6T>G rs17216107 0.01065
NM_080669.6(SLC46A1):c.*4316C>G rs117397871 0.01065
NM_001063.4(TF):c.432C>T (p.Ser144=) rs41298987 0.01050
NM_001081.4(CUBN):c.*45C>T rs7085076 0.01027
NM_000096.4(CP):c.2286-12T>G rs183671127 0.01016
NM_001081.4(CUBN):c.8741C>T (p.Ala2914Val) rs45551835 0.01006
NM_000373.4(UMPS):c.*2901G>C rs144492816 0.00977
NM_000373.4(UMPS):c.*2884A>G rs139426908 0.00976
NM_015702.3(MMADHC):c.*164A>G rs147662711 0.00973
NM_000355.4(TCN2):c.*300T>G rs187942607 0.00942
NM_005142.3(CBLIF):c.990C>T (p.Asn330=) rs2867802 0.00921
NM_001081.4(CUBN):c.4872C>T (p.Ile1624=) rs114958584 0.00910
NM_000373.4(UMPS):c.*3732C>T rs111966656 0.00908
NM_006996.3(SLC19A2):c.*1421A>G rs74121673 0.00885
NM_000096.4(CP):c.*509A>C rs13098532 0.00867
NM_000096.4(CP):c.*879A>C rs144029944 0.00863
NM_080669.6(SLC46A1):c.*2123G>C rs7225850 0.00854
NM_005142.3(CBLIF):c.290T>C (p.Met97Thr) rs150884181 0.00842
NM_001081.4(CUBN):c.6561G>A (p.Ser2187=) rs11254278 0.00833
NM_000355.4(TCN2):c.840T>C (p.Asp280=) rs79999752 0.00808
NM_000096.4(CP):c.3182-4A>G rs34272112 0.00805
NM_001081.4(CUBN):c.6788T>G (p.Phe2263Cys) rs2271460 0.00803
NM_001081.4(CUBN):c.10039G>A (p.Gly3347Arg) rs146027947 0.00789
NM_000373.4(UMPS):c.*3131G>A rs140750390 0.00779
NM_000373.4(UMPS):c.*1349G>A rs138112683 0.00768
NM_005142.3(CBLIF):c.193G>A (p.Gly65Arg) rs11825834 0.00763
NM_006996.3(SLC19A2):c.796G>A (p.Val266Met) rs75099879 0.00758
NM_001081.4(CUBN):c.2594G>A (p.Ser865Asn) rs138083522 0.00756
NM_000617.3(SLC11A2):c.*1261G>A rs60725885 0.00753
NM_000617.3(SLC11A2):c.*872A>C rs73297974 0.00752
NM_015702.3(MMADHC):c.87A>C (p.Lys29Asn) rs61750442 0.00751
NM_001081.4(CUBN):c.6924A>T (p.Ser2308=) rs115303408 0.00727
NM_001081.4(CUBN):c.*872T>C rs116825641 0.00690
NM_001081.4(CUBN):c.5098G>A (p.Asp1700Asn) rs116114483 0.00681
NM_000355.3(TCN2):c.-244C>T rs143029449 0.00657
NM_000617.3(SLC11A2):c.-78G>A rs2301528 0.00652
NM_001081.4(CUBN):c.*737T>C rs114039309 0.00648
NM_001081.4(CUBN):c.9491C>G (p.Ser3164Trp) rs57163243 0.00641
NM_001063.3(TF):c.-65G>C rs41298275 0.00626
NM_001081.4(CUBN):c.963C>T (p.Pro321=) rs150309054 0.00617
NM_015702.3(MMADHC):c.473G>A (p.Arg158Gln) rs114276563 0.00611
NM_000096.4(CP):c.669G>C (p.Val223=) rs35438054 0.00599
NM_018368.4(LMBRD1):c.*395T>C rs80330045 0.00583
NM_005142.3(CBLIF):c.247G>A (p.Asp83Asn) rs115964827 0.00580
NM_001081.4(CUBN):c.7365T>A (p.Asp2455Glu) rs117128556 0.00569
NM_001081.4(CUBN):c.2445C>T (p.Val815=) rs116350428 0.00561
NM_001081.4(CUBN):c.3752G>C (p.Ser1251Thr) rs115048360 0.00561
NM_000096.4(CP):c.*474T>C rs34936395 0.00559
NM_001081.4(CUBN):c.6469A>G (p.Asn2157Asp) rs144360241 0.00541
NM_080669.6(SLC46A1):c.*2746G>A rs11871687 0.00541
NM_080669.6(SLC46A1):c.*2217A>G rs41297923 0.00539
NM_000617.3(SLC11A2):c.*1486G>T rs116731209 0.00538
NM_000617.3(SLC11A2):c.*789G>A rs79206015 0.00538
NM_000617.3(SLC11A2):c.184T>C (p.Tyr62His) rs17222470 0.00534
NM_001081.4(CUBN):c.9340G>A (p.Gly3114Ser) rs117035284 0.00531
NM_006996.3(SLC19A2):c.-114C>T rs145285893 0.00519
NM_001081.4(CUBN):c.9986C>T (p.Ser3329Leu) rs74431427 0.00513
NM_080669.6(SLC46A1):c.*1243A>G rs41297909 0.00501
NM_080669.6(SLC46A1):c.*2248T>C rs8082600 0.00495
NM_000096.4(CP):c.1275T>C (p.Tyr425=) rs34237139 0.00484
NM_001849.4(COL6A2):c.2980G>A (p.Ala994Thr) rs117931394 0.00474
NM_000096.4(CP):c.1349-13T>C rs17847017 0.00469
NM_000096.4(CP):c.1348+9T>C rs35272481 0.00465
NM_001081.4(CUBN):c.2756A>G (p.His919Arg) rs148869805 0.00464
NM_006657.3(FTCD):c.*15C>A rs114980528 0.00458
NM_080669.6(SLC46A1):c.*692A>T rs112801276 0.00456
NM_000617.3(SLC11A2):c.625G>A (p.Ala209Thr) rs115874705 0.00453
NM_006996.3(SLC19A2):c.-23G>C rs181612338 0.00441
NM_000096.4(CP):c.2525A>G (p.Glu842Gly) rs149858116 0.00437
NM_000096.4(CP):c.2522C>G (p.Thr841Arg) rs56033670 0.00435
NM_000617.3(SLC11A2):c.*1058G>A rs41398049 0.00427
NM_000096.4(CP):c.*259C>T rs192321084 0.00414
NM_001081.4(CUBN):c.1003G>A (p.Ala335Thr) rs57335729 0.00406
NM_001081.4(CUBN):c.7868A>C (p.Glu2623Ala) rs115449747 0.00403
NM_001063.4(TF):c.1688-4C>A rs185023567 0.00402
NM_000373.4(UMPS):c.21T>C (p.Ala7=) rs17843775 0.00389
NM_001081.4(CUBN):c.3292G>T (p.Ala1098Ser) rs146593010 0.00386
NM_018368.4(LMBRD1):c.-18T>A rs202192515 0.00384
NM_006996.3(SLC19A2):c.561G>T (p.Leu187=) rs150548640 0.00374
NM_000373.4(UMPS):c.*4344T>C rs180944864 0.00372
NM_001081.4(CUBN):c.9125A>G (p.Asn3042Ser) rs142581908 0.00371
NM_006996.2(SLC19A2):c.-196C>A rs72542444 0.00366
NM_001081.4(CUBN):c.10383C>T (p.Ser3461=) rs141937843 0.00363
NM_001063.4(TF):c.417G>A (p.Thr139=) rs113868497 0.00362
NM_000373.4(UMPS):c.*4876C>G rs192036374 0.00361
NM_001081.4(CUBN):c.1794C>T (p.Tyr598=) rs140184467 0.00358
NM_000373.4(UMPS):c.88A>G (p.Ser30Gly) rs17843776 0.00350
NM_001081.4(CUBN):c.6997A>G (p.Ile2333Val) rs149507036 0.00349
NM_080669.6(SLC46A1):c.*3120A>G rs147971222 0.00348
NM_000355.4(TCN2):c.877C>T (p.Leu293=) rs45624233 0.00347
NM_018368.4(LMBRD1):c.18G>C (p.Ala6=) rs149650795 0.00341
NM_001081.4(CUBN):c.*769G>A rs149618660 0.00335
NM_000373.4(UMPS):c.*868del rs570945751 0.00329
NM_000355.4(TCN2):c.360G>A (p.Arg120=) rs115272037 0.00321
NM_001081.4(CUBN):c.10267G>A (p.Val3423Ile) rs145872906 0.00305
NM_001081.4(CUBN):c.5680A>G (p.Ile1894Val) rs76789390 0.00304
NM_001063.4(TF):c.2012G>A (p.Gly671Glu) rs121918677 0.00299
NM_001063.4(TF):c.216+14G>C rs114449208 0.00299
NM_001063.4(TF):c.993G>A (p.Lys331=) rs140829783 0.00299
NM_006996.3(SLC19A2):c.1080T>C (p.Thr360=) rs3737682 0.00297
NM_080669.6(SLC46A1):c.*1648G>A rs114008979 0.00295
NM_000096.4(CP):c.2878+12T>G rs35848147 0.00288
NM_015702.3(MMADHC):c.-8C>T rs180812156 0.00282
NM_000373.4(UMPS):c.*3020G>A rs185476268 0.00281
NM_080669.6(SLC46A1):c.756C>G (p.Val252=) rs185900287 0.00274
NM_000373.4(UMPS):c.*1931G>A rs143926148 0.00269
NM_000373.4(UMPS):c.*3785C>G rs181697356 0.00269
NM_080669.6(SLC46A1):c.883A>G (p.Thr295Ala) rs34552966 0.00263
NM_000373.4(UMPS):c.*4623C>T rs75775614 0.00257
NM_000355.4(TCN2):c.230A>T (p.Lys77Met) rs75680863 0.00255
NM_001081.4(CUBN):c.2656G>A (p.Glu886Lys) rs138545198 0.00253
NM_001063.4(TF):c.333G>A (p.Gln111=) rs150548621 0.00252
NM_001063.4(TF):c.635+13T>A rs41298993 0.00246
NM_001081.4(CUBN):c.1470G>A (p.Pro490=) rs143255616 0.00243
NM_080669.6(SLC46A1):c.*2852C>T rs569526091 0.00243
NM_000096.4(CP):c.1430C>T (p.Pro477Leu) rs35331711 0.00242
NM_000096.4(CP):c.322C>T (p.His108Tyr) rs34386552 0.00235
NM_080669.6(SLC46A1):c.*4729del rs559270240 0.00232
NM_001063.4(TF):c.956A>G (p.His319Arg) rs41295774 0.00224
NM_000617.3(SLC11A2):c.1303C>A (p.Leu435Ile) rs144863268 0.00222
NM_001081.4(CUBN):c.2182T>C (p.Phe728Leu) rs147752521 0.00217
NM_000096.4(CP):c.993T>C (p.Pro331=) rs17847025 0.00213
NM_001081.4(CUBN):c.1530+12A>C rs138936163 0.00212
NM_000373.4(UMPS):c.*1088T>G rs535422876 0.00204
NM_000355.4(TCN2):c.64+11C>T rs141519384 0.00203
NM_000355.4(TCN2):c.554C>T (p.Pro185Leu) rs146009793 0.00196
NM_000617.3(SLC11A2):c.832-3T>C rs201248826 0.00193
NM_000096.4(CP):c.2571C>T (p.Tyr857=) rs151304828 0.00189
NM_000096.4(CP):c.2793A>G (p.Leu931=) rs34987997 0.00186
NM_001081.4(CUBN):c.1681G>A (p.Asp561Asn) rs147449194 0.00181
NM_015702.3(MMADHC):c.646C>G (p.Arg216Gly) rs141093638 0.00181
NM_001081.4(CUBN):c.7706-4T>C rs374979108 0.00180
NM_000373.4(UMPS):c.*1517C>A rs74477033 0.00179
NM_080669.6(SLC46A1):c.*1795C>T rs200529579 0.00177
NM_000096.4(CP):c.*1081T>A rs188137938 0.00174
NM_080669.6(SLC46A1):c.*2724G>C rs139343092 0.00170
NM_001081.4(CUBN):c.8968G>A (p.Val2990Ile) rs115888073 0.00169
NM_006996.3(SLC19A2):c.1322T>C (p.Ile441Thr) rs17847484 0.00169
NM_001081.4(CUBN):c.10119C>A (p.Val3373=) rs139596037 0.00168
NM_000373.4(UMPS):c.*4511G>A rs569255721 0.00165
NM_080669.6(SLC46A1):c.*4661G>A rs575926704 0.00163
NM_000096.4(CP):c.*40C>T rs112764171 0.00162
NM_000096.4(CP):c.2684G>C (p.Gly895Ala) rs139633388 0.00162
NM_000355.4(TCN2):c.280G>A (p.Gly94Ser) rs11557600 0.00162
NM_001081.4(CUBN):c.*436C>A rs574512019 0.00159
NM_001081.4(CUBN):c.4200C>T (p.Gly1400=) rs150663813 0.00159
NM_001081.4(CUBN):c.910G>A (p.Glu304Lys) rs78201384 0.00159
NM_000617.3(SLC11A2):c.893T>C (p.Ile298Thr) rs17216051 0.00155
NM_001081.4(CUBN):c.5069C>T (p.Ala1690Val) rs141640975 0.00155
NM_000355.4(TCN2):c.623G>A (p.Arg208His) rs150472705 0.00154
NM_000096.4(CP):c.347C>A (p.Pro116His) rs73866999 0.00150
NM_000355.4(TCN2):c.-98T>G rs370882214 0.00150
NM_001081.4(CUBN):c.6938A>T (p.Tyr2313Phe) rs140806389 0.00150
NM_000355.4(TCN2):c.138C>T (p.Ser46=) rs143250551 0.00148
NM_005142.3(CBLIF):c.154T>A (p.Tyr52Asn) rs144916324 0.00148
NM_000617.3(SLC11A2):c.504A>G (p.Ser168=) rs145155499 0.00145
NM_080669.6(SLC46A1):c.642G>A (p.Leu214=) rs145398587 0.00145
NM_000355.4(TCN2):c.296A>C (p.Lys99Thr) rs150225103 0.00135
NM_006996.3(SLC19A2):c.*1246T>G rs181914254 0.00135
NM_000355.4(TCN2):c.428-4T>C rs201408393 0.00134
NM_000355.4(TCN2):c.523G>A (p.Val175Met) rs142791153 0.00134
NM_001081.4(CUBN):c.8894T>C (p.Phe2965Ser) rs117620008 0.00133
NM_000355.4(TCN2):c.*381T>G rs149713328 0.00128
NM_000617.3(SLC11A2):c.*546G>A rs193030246 0.00126
NM_006996.3(SLC19A2):c.639G>A (p.Lys213=) rs137970656 0.00123
NM_000373.4(UMPS):c.*4755G>A rs189776179 0.00121
NM_000373.4(UMPS):c.495G>A (p.Ala165=) rs75971351 0.00119
NM_000617.3(SLC11A2):c.197G>A (p.Ser66Asn) rs141728916 0.00118
NM_015702.3(MMADHC):c.578T>C (p.Val193Ala) rs147370143 0.00117
NM_080669.6(SLC46A1):c.*4636C>T rs886052737 0.00116
NM_000373.4(UMPS):c.*4895A>G rs142288742 0.00111
NM_001081.4(CUBN):c.5967G>C (p.Val1989=) rs139153235 0.00111
NM_080669.6(SLC46A1):c.294C>A (p.Leu98=) rs371270310 0.00110
NM_080669.6(SLC46A1):c.*1831C>A rs41297915 0.00109
NM_000355.4(TCN2):c.998C>T (p.Thr333Met) rs117458738 0.00108
NM_080669.6(SLC46A1):c.*2843G>A rs118138669 0.00108
NM_080669.6(SLC46A1):c.158C>T (p.Ala53Val) rs41297069 0.00108
NM_080669.6(SLC46A1):c.512T>A (p.Val171Asp) rs189103810 0.00106
NM_000617.3(SLC11A2):c.-39+5G>C rs180796770 0.00105
NM_001081.4(CUBN):c.7509G>A (p.Pro2503=) rs201001705 0.00105
NM_080669.6(SLC46A1):c.22C>T (p.Pro8Ser) rs41297065 0.00102
NM_080669.6(SLC46A1):c.*1332G>A rs146041886 0.00101
NM_080669.6(SLC46A1):c.*1839G>A rs41297917 0.00101
NM_000096.3(CP):c.-183T>C rs185578646 0.00099
NM_000355.4(TCN2):c.941-13C>T rs192009509 0.00099
NM_080669.6(SLC46A1):c.*1981C>G rs41297919 0.00099
NM_001063.4(TF):c.1027C>T (p.Arg343Trp) rs150854910 0.00096
NM_018368.4(LMBRD1):c.981-11A>T rs75847296 0.00092
NM_000617.3(SLC11A2):c.*11G>A rs201382454 0.00091
NM_001081.4(CUBN):c.10245C>T (p.Tyr3415=) rs147730705 0.00091
NM_001081.4(CUBN):c.9078C>T (p.Phe3026=) rs140524729 0.00091
NM_001081.4(CUBN):c.3495C>T (p.Cys1165=) rs143531829 0.00090
NM_001081.4(CUBN):c.3356T>C (p.Leu1119Ser) rs141164907 0.00089
NM_005142.3(CBLIF):c.910C>T (p.Pro304Ser) rs150926439 0.00089
NM_080669.6(SLC46A1):c.623A>T (p.Tyr208Phe) rs201837257 0.00088
NM_001081.4(CUBN):c.10575C>T (p.Pro3525=) rs145569358 0.00086
NM_001081.4(CUBN):c.1951C>G (p.Arg651Gly) rs182512508 0.00086
NM_006996.3(SLC19A2):c.1014C>G (p.Ala338=) rs143780369 0.00086
NM_005142.3(CBLIF):c.1138G>A (p.Val380Ile) rs144070828 0.00082
NM_001081.4(CUBN):c.7210+9A>G rs117711403 0.00081
NM_080669.6(SLC46A1):c.972C>T (p.Leu324=) rs188529539 0.00081
NM_080669.6(SLC46A1):c.*835A>G rs181698246 0.00080
NM_000355.4(TCN2):c.1237A>G (p.Arg413Gly) rs148963479 0.00075
NM_000373.4(UMPS):c.827G>A (p.Ser276Asn) rs140804035 0.00074
NM_001063.4(TF):c.228G>A (p.Ala76=) rs140381335 0.00072
NM_000373.4(UMPS):c.*1155T>C rs112368493 0.00070
NM_001081.4(CUBN):c.8399C>T (p.Thr2800Ile) rs141737312 0.00070
NM_001081.4(CUBN):c.*782G>A rs570478432 0.00067
NM_005142.3(CBLIF):c.455C>T (p.Pro152Leu) rs148081315 0.00066
NM_000373.4(UMPS):c.*3359G>T rs752390899 0.00064
NM_001081.4(CUBN):c.4669C>T (p.Leu1557Phe) rs140970422 0.00064
NM_018368.4(LMBRD1):c.1056del (p.Asn353fs) rs749272546 0.00062
NM_000373.4(UMPS):c.*4016T>C rs77601301 0.00061
NM_000373.4(UMPS):c.*2552A>G rs548237479 0.00059
NM_000373.4(UMPS):c.*1050C>T rs186445088 0.00058
NM_005142.3(CBLIF):c.218A>G (p.Lys73Arg) rs139444835 0.00056
NM_080669.6(SLC46A1):c.*1649A>G rs779490495 0.00056
NM_080669.6(SLC46A1):c.295T>C (p.Phe99Leu) rs201862124 0.00054
NM_001081.4(CUBN):c.2016G>A (p.Pro672=) rs148107237 0.00052
NM_001063.4(TF):c.521C>T (p.Ser174Leu) rs150679929 0.00051
NM_015702.3(MMADHC):c.617A>G (p.Asn206Ser) rs138607412 0.00051
NM_080669.6(SLC46A1):c.*1774A>G rs2239909 0.00050
NM_000096.4(CP):c.2554+8C>T rs749646388 0.00049
NM_018368.4(LMBRD1):c.-103A>G rs369575833 0.00049
NM_000373.4(UMPS):c.*2410_*2412del rs886057878 0.00046
NM_001081.4(CUBN):c.*734A>G rs751683958 0.00046
NM_206965.2(FTCD):c.*1C>T rs144773622 0.00045
NM_001063.4(TF):c.43+8C>A rs368521553 0.00043
NM_001081.4(CUBN):c.8139C>A (p.Thr2713=) rs147742103 0.00043
NM_000096.4(CP):c.2446G>A (p.Val816Ile) rs139058165 0.00042
NM_001081.4(CUBN):c.3252A>G (p.Gln1084=) rs142560894 0.00042
NM_000096.4(CP):c.788A>G (p.Asn263Ser) rs150303869 0.00041
NM_000373.4(UMPS):c.*1902G>A rs147465900 0.00041
NM_000373.4(UMPS):c.*2605G>A rs554810943 0.00041
NM_000617.3(SLC11A2):c.255G>T (p.Leu85=) rs17216072 0.00041
NM_001081.4(CUBN):c.6089G>A (p.Arg2030Gln) rs143400113 0.00041
NM_001081.4(CUBN):c.671G>A (p.Arg224His) rs139891639 0.00041
NM_001081.4(CUBN):c.9061G>A (p.Glu3021Lys) rs41289299 0.00041
NM_000617.3(SLC11A2):c.15T>C (p.Pro5=) rs192462172 0.00040
NM_006996.3(SLC19A2):c.*51C>G rs376279404 0.00040
NM_000373.4(UMPS):c.*3065C>T rs116880739 0.00038
NM_000373.4(UMPS):c.*4693G>A rs757504757 0.00038
NM_000096.4(CP):c.938C>T (p.Thr313Ile) rs144401501 0.00037
NM_080669.6(SLC46A1):c.*2558C>T rs750056802 0.00037
NM_000617.3(SLC11A2):c.*1949A>G rs72561485 0.00036
NM_000373.4(UMPS):c.*274C>T rs556138886 0.00035
NM_001081.4(CUBN):c.6091A>G (p.Thr2031Ala) rs150392211 0.00034
NM_001081.4(CUBN):c.8671G>A (p.Val2891Ile) rs150488625 0.00034
NM_080669.6(SLC46A1):c.*4418C>T rs184621509 0.00034
NM_001081.4(CUBN):c.5429G>A (p.Arg1810Gln) rs149622438 0.00033
NM_000355.4(TCN2):c.509G>A (p.Arg170Gln) rs117353193 0.00032
NM_000617.3(SLC11A2):c.1425C>T (p.Gly475=) rs139057918 0.00032
NM_000617.3(SLC11A2):c.1258A>G (p.Ile420Val) rs148582995 0.00031
NM_001081.4(CUBN):c.3116A>G (p.Tyr1039Cys) rs150014503 0.00031
NM_001081.4(CUBN):c.7837A>C (p.Ile2613Leu) rs144626884 0.00031
NM_001081.4(CUBN):c.9335T>C (p.Phe3112Ser) rs150985118 0.00031
NM_006996.3(SLC19A2):c.*1186A>G rs922589020 0.00031
NM_001063.4(TF):c.1107C>T (p.His369=) rs112157819 0.00030
NM_001063.4(TF):c.119G>A (p.Ser40Asn) rs146477698 0.00030
NM_000096.4(CP):c.*373C>G rs370247691 0.00029
NM_000096.4(CP):c.2997C>T (p.His999=) rs147475926 0.00029
NM_000617.3(SLC11A2):c.*716G>A rs571129669 0.00029
NM_001081.4(CUBN):c.6263T>C (p.Phe2088Ser) rs74844886 0.00029
NM_001081.4(CUBN):c.814G>A (p.Gly272Arg) rs146035059 0.00029
NM_080669.6(SLC46A1):c.*3389G>A rs146812537 0.00029
NM_000373.4(UMPS):c.*4672C>T rs549550940 0.00028
NM_001081.4(CUBN):c.9664-9T>G rs145383974 0.00028
NM_001081.4(CUBN):c.5207C>T (p.Ser1736Leu) rs191787640 0.00027
NM_000096.4(CP):c.2565C>T (p.Leu855=) rs781672409 0.00026
NM_000355.4(TCN2):c.903C>T (p.Tyr301=) rs146036025 0.00026
NM_001063.4(TF):c.1302C>T (p.Ser434=) rs142542411 0.00026
NM_001081.4(CUBN):c.1811C>T (p.Pro604Leu) rs200537125 0.00026
NM_001081.4(CUBN):c.2932C>A (p.His978Asn) rs369981313 0.00026
NM_001081.4(CUBN):c.4167C>T (p.Tyr1389=) rs150510291 0.00026
NM_080669.6(SLC46A1):c.*671C>T rs41297123 0.00026
NM_000096.4(CP):c.2158C>T (p.Arg720Trp) rs145784949 0.00025
NM_000355.4(TCN2):c.501C>T (p.His167=) rs144652799 0.00024
NM_080669.6(SLC46A1):c.*2262G>A rs782425144 0.00023
NM_000617.3(SLC11A2):c.*1795G>A rs750648046 0.00022
NM_001081.4(CUBN):c.8071G>A (p.Gly2691Arg) rs1801237 0.00022
NM_000096.4(CP):c.1104G>C (p.Gly368=) rs142503847 0.00021
NM_000355.4(TCN2):c.522C>T (p.Ser174=) rs537115632 0.00021
NM_000617.3(SLC11A2):c.*1057C>T rs767436028 0.00021
NM_001081.4(CUBN):c.9079G>A (p.Gly3027Arg) rs150202444 0.00021
NM_001063.4(TF):c.281A>G (p.Asn94Ser) rs200551981 0.00020
NM_000096.4(CP):c.1217C>A (p.Ala406Glu) rs147034302 0.00019
NM_000355.4(TCN2):c.*405T>C rs539828054 0.00019
NM_000355.4(TCN2):c.1017C>G (p.Leu339=) rs35997415 0.00019
NM_000373.4(UMPS):c.*3701C>T rs768769772 0.00019
NM_001081.4(CUBN):c.10293C>T (p.His3431=) rs1266678482 0.00019
NM_001081.4(CUBN):c.388-3C>T rs367626184 0.00019
NM_001081.4(CUBN):c.5926+5G>A rs143301088 0.00019
NM_001081.4(CUBN):c.8203G>T (p.Asp2735Tyr) rs149802222 0.00019
NM_001081.4(CUBN):c.8412T>C (p.Gly2804=) rs139990077 0.00019
NM_001081.4(CUBN):c.9597C>T (p.Leu3199=) rs200457480 0.00019
NM_005142.3(CBLIF):c.26T>C (p.Leu9Pro) rs146699265 0.00019
NM_006996.3(SLC19A2):c.*638G>A rs757466309 0.00019
NM_080669.6(SLC46A1):c.*4071G>A rs908290461 0.00019
NM_000373.4(UMPS):c.*3264G>A rs190423326 0.00018
NM_000373.4(UMPS):c.*4116G>A rs886057894 0.00018
NM_001081.4(CUBN):c.349-9T>C rs375431948 0.00018
NM_000096.4(CP):c.944A>G (p.Asn315Ser) rs370682704 0.00017
NM_000373.4(UMPS):c.*4065C>T rs759188574 0.00017
NM_001081.4(CUBN):c.*940A>G rs560609264 0.00017
NM_001081.4(CUBN):c.3995A>G (p.Asn1332Ser) rs370803308 0.00017
NM_001081.4(CUBN):c.5796A>G (p.Glu1932=) rs376536525 0.00017
NM_005142.3(CBLIF):c.79+1G>A rs147785187 0.00017
NM_006996.3(SLC19A2):c.212A>G (p.Asn71Ser) rs149595229 0.00017
NM_018368.4(LMBRD1):c.430A>G (p.Thr144Ala) rs12214456 0.00017
NM_080669.6(SLC46A1):c.*4091C>A rs1046966571 0.00017
NM_001063.4(TF):c.1095G>A (p.Ala365=) rs575999145 0.00016
NM_001063.4(TF):c.165T>A (p.Ser55Arg) rs8177318 0.00016
NM_001081.4(CUBN):c.1604A>G (p.Tyr535Cys) rs139848689 0.00016
NM_001081.4(CUBN):c.4740G>A (p.Thr1580=) rs200115233 0.00016
NM_018368.4(LMBRD1):c.1192T>C (p.Tyr398His) rs185334169 0.00016
NM_000096.4(CP):c.1191C>G (p.Asn397Lys) rs146229133 0.00015
NM_000096.4(CP):c.151C>T (p.His51Tyr) rs150681942 0.00015
NM_000373.4(UMPS):c.1273+14C>T rs374339942 0.00015
NM_001081.4(CUBN):c.10076C>T (p.Ser3359Leu) rs140566726 0.00015
NM_018368.4(LMBRD1):c.*166A>G rs960902863 0.00015
NM_018368.4(LMBRD1):c.384T>C (p.Asp128=) rs143642515 0.00015
NM_000373.4(UMPS):c.*2230C>T rs565272396 0.00014
NM_000617.3(SLC11A2):c.*2332A>T rs575495762 0.00014
NM_001063.4(TF):c.1352T>C (p.Val451Ala) rs142116896 0.00014
NM_001081.4(CUBN):c.*266C>T rs374059721 0.00014
NM_001081.4(CUBN):c.*560C>T rs45565931 0.00014
NM_001081.4(CUBN):c.-35G>C rs376502722 0.00014
NM_001081.4(CUBN):c.2138C>T (p.Thr713Met) rs141420691 0.00014
NM_001081.4(CUBN):c.2922C>T (p.Phe974=) rs201802902 0.00014
NM_001081.4(CUBN):c.9035C>T (p.Pro3012Leu) rs143741363 0.00014
NM_001081.4(CUBN):c.9418G>A (p.Ala3140Thr) rs148491916 0.00014
NM_006996.3(SLC19A2):c.688A>T (p.Ile230Phe) rs770374931 0.00014
NM_000096.3(CP):c.-165C>T rs536533840 0.00013
NM_000096.4(CP):c.93G>A (p.Thr31=) rs201521886 0.00013
NM_000373.4(UMPS):c.1374T>C (p.Asp458=) rs200608473 0.00013
NM_000617.3(SLC11A2):c.1032C>G (p.Leu344=) rs370750890 0.00013
NM_001063.4(TF):c.227C>T (p.Ala76Val) rs41298977 0.00013
NM_015702.3(MMADHC):c.-60G>A rs886054923 0.00013
NM_018368.4(LMBRD1):c.*125A>G rs886061689 0.00013
NM_000355.4(TCN2):c.*18C>T rs371703966 0.00012
NM_000373.4(UMPS):c.*2159C>T rs559652457 0.00012
NM_000373.4(UMPS):c.*3374C>G rs143276999 0.00012
NM_000373.4(UMPS):c.953T>C (p.Ile318Thr) rs375535366 0.00012
NM_000617.3(SLC11A2):c.*153A>G rs146016854 0.00012
NM_000617.3(SLC11A2):c.1348-10T>C rs189993499 0.00012
NM_001081.4(CUBN):c.1236T>C (p.Thr412=) rs201404467 0.00012
NM_001081.4(CUBN):c.348+2T>C rs146047781 0.00012
NM_005142.3(CBLIF):c.*87G>A rs575272147 0.00012
NM_005142.3(CBLIF):c.79+3G>A rs146396839 0.00012
NM_080669.6(SLC46A1):c.*1076G>A rs151184490 0.00012
NM_080669.6(SLC46A1):c.*2636C>A rs782382359 0.00012
NM_000096.4(CP):c.*572A>G rs561191589 0.00011
NM_000096.4(CP):c.1493A>G (p.Gln498Arg) rs17847018 0.00011
NM_000096.4(CP):c.3006C>T (p.Ser1002=) rs199877380 0.00011
NM_000096.4(CP):c.782-3C>T rs375191868 0.00011
NM_000355.4(TCN2):c.547G>A (p.Val183Met) rs201925682 0.00011
NM_000373.4(UMPS):c.*3494G>A rs575063959 0.00011
NM_001063.4(TF):c.215C>T (p.Ala72Val) rs142819812 0.00011
NM_001081.4(CUBN):c.10729G>A (p.Ala3577Thr) rs139051724 0.00011
NM_001081.4(CUBN):c.1926C>T (p.Asp642=) rs201938886 0.00011
NM_001081.4(CUBN):c.5148C>T (p.Phe1716=) rs370581324 0.00011
NM_001081.4(CUBN):c.6278G>C (p.Gly2093Ala) rs748823977 0.00011
NM_001081.4(CUBN):c.6661G>A (p.Val2221Ile) rs143291127 0.00011
NM_001081.4(CUBN):c.8021G>A (p.Arg2674His) rs184746130 0.00011
NM_001081.4(CUBN):c.9267C>T (p.Thr3089=) rs200124646 0.00011
NM_005142.3(CBLIF):c.256+10C>T rs369960390 0.00011
NM_080669.6(SLC46A1):c.*1094A>G rs782533706 0.00011
NM_080669.6(SLC46A1):c.*1249G>A rs781824816 0.00011
NM_080669.6(SLC46A1):c.*1392C>A rs141940033 0.00011
NM_080669.6(SLC46A1):c.*2868G>A rs1028128966 0.00011
NM_080669.6(SLC46A1):c.*4804T>A rs781937251 0.00011
NM_000096.4(CP):c.1357A>G (p.Ile453Val) rs145762017 0.00010
NM_000355.4(TCN2):c.921A>C (p.Pro307=) rs138738105 0.00010
NM_000373.4(UMPS):c.*4178A>G rs758463509 0.00010
NM_000373.4(UMPS):c.*4215C>T rs780219461 0.00010
NM_000373.4(UMPS):c.1157C>T (p.Ala386Val) rs202158549 0.00010
NM_000617.3(SLC11A2):c.-50G>A rs886049570 0.00010
NM_001063.4(TF):c.1044C>T (p.Gly348=) rs139468631 0.00010
NM_001081.4(CUBN):c.*786T>C rs886046853 0.00010
NM_001081.4(CUBN):c.10641G>A (p.Arg3547=) rs145909413 0.00010
NM_001081.4(CUBN):c.10759G>A (p.Gly3587Arg) rs201484266 0.00010
NM_001081.4(CUBN):c.5323C>T (p.Arg1775Trp) rs1276708 0.00010
NM_005142.3(CBLIF):c.1107C>T (p.Val369=) rs537424617 0.00010
NM_006996.3(SLC19A2):c.*1928T>C rs776987873 0.00010
NM_018368.4(LMBRD1):c.*384A>C rs536469891 0.00010
NM_080669.6(SLC46A1):c.*3959C>G rs886052738 0.00010
NM_080669.6(SLC46A1):c.-67G>T rs782796764 0.00010
NM_206965.2(FTCD):c.1291del (p.Glu431fs) rs775788856 0.00010
NM_206965.2(FTCD):c.476C>T (p.Ala159Val) rs200652518 0.00010
NM_000355.4(TCN2):c.*520T>C rs953408654 0.00009
NM_000373.4(UMPS):c.*1192C>T rs771857226 0.00009
NM_000373.4(UMPS):c.*348C>T rs186337218 0.00009
NM_000617.3(SLC11A2):c.-39G>A rs751410203 0.00009
NM_001063.3(TF):c.-117G>A rs540606355 0.00009
NM_001063.4(TF):c.585G>A (p.Gly195=) rs376851470 0.00009
NM_001081.4(CUBN):c.10736C>T (p.Ser3579Phe) rs754645310 0.00009
NM_001081.4(CUBN):c.1111+5T>C rs199662739 0.00009
NM_001081.4(CUBN):c.2483G>A (p.Arg828His) rs199527884 0.00009
NM_001081.4(CUBN):c.536G>T (p.Gly179Val) rs370373276 0.00009
NM_001081.4(CUBN):c.5862G>A (p.Lys1954=) rs181991723 0.00009
NM_001081.4(CUBN):c.8825A>G (p.Asn2942Ser) rs766855509 0.00009
NM_005142.3(CBLIF):c.1074-3T>C rs370833765 0.00009
NM_006996.3(SLC19A2):c.1486A>G (p.Thr496Ala) rs769397647 0.00009
NM_015702.3(MMADHC):c.-16A>G rs144111552 0.00009
NM_018368.4(LMBRD1):c.*26A>G rs758279877 0.00009
NM_080669.6(SLC46A1):c.*4323C>G rs561043242 0.00009
NM_000355.4(TCN2):c.353T>C (p.Phe118Ser) rs199728304 0.00008
NM_000373.4(UMPS):c.*4119T>C rs747201281 0.00008
NM_000617.3(SLC11A2):c.*1739C>T rs766628921 0.00008
NM_001063.4(TF):c.*361T>C rs952581393 0.00008
NM_001063.4(TF):c.-18C>T rs781336514 0.00008
NM_001081.4(CUBN):c.10576G>A (p.Gly3526Ser) rs200330356 0.00008
NM_001081.4(CUBN):c.2446+11A>G rs372125740 0.00008
NM_001081.4(CUBN):c.5073C>G (p.Pro1691=) rs200977290 0.00008
NM_001081.4(CUBN):c.7455G>A (p.Pro2485=) rs144942741 0.00008
NM_001081.4(CUBN):c.9524C>A (p.Ser3175Ter) rs368697251 0.00008
NM_018368.4(LMBRD1):c.802G>A (p.Ala268Thr) rs143758103 0.00008
NM_080669.6(SLC46A1):c.*3985A>T rs1031838882 0.00008
NM_080669.6(SLC46A1):c.85G>A (p.Val29Ile) rs41297067 0.00008
NM_000096.4(CP):c.2998G>A (p.Gly1000Ser) rs187293972 0.00007
NM_001063.4(TF):c.1615G>A (p.Ala539Thr) rs369813809 0.00007
NM_001081.4(CUBN):c.5397T>C (p.Arg1799=) rs147772422 0.00007
NM_001081.4(CUBN):c.5794G>C (p.Glu1932Gln) rs749462295 0.00007
NM_001081.4(CUBN):c.7797C>T (p.Cys2599=) rs138758085 0.00007
NM_001081.4(CUBN):c.8301A>G (p.Ser2767=) rs377258631 0.00007
NM_001081.4(CUBN):c.8891C>G (p.Ser2964Cys) rs148348845 0.00007
NM_018368.4(LMBRD1):c.636+14G>T rs376670737 0.00007
NM_080669.6(SLC46A1):c.*3279C>T rs539239937 0.00007
NM_080669.6(SLC46A1):c.849G>A (p.Gly283=) rs782306668 0.00007
NM_000096.3(CP):c.-199C>G rs772691705 0.00006
NM_000096.4(CP):c.3130G>A (p.Asp1044Asn) rs149217680 0.00006
NM_000373.4(UMPS):c.*37C>T rs747349290 0.00006
NM_000373.4(UMPS):c.*4231A>G rs886057895 0.00006
NM_000617.3(SLC11A2):c.*1599C>T rs886049559 0.00006
NM_000617.3(SLC11A2):c.*415G>A rs765348165 0.00006
NM_000617.3(SLC11A2):c.1584A>G (p.Gln528=) rs761505350 0.00006
NM_001063.4(TF):c.154G>A (p.Asp52Asn) rs41298295 0.00006
NM_001081.4(CUBN):c.*298G>A rs529415832 0.00006
NM_001081.4(CUBN):c.*416G>A rs886046856 0.00006
NM_001081.4(CUBN):c.165G>A (p.Thr55=) rs370127775 0.00006
NM_001081.4(CUBN):c.2120G>A (p.Arg707His) rs763524933 0.00006
NM_001081.4(CUBN):c.2610A>G (p.Glu870=) rs143471343 0.00006
NM_001081.4(CUBN):c.348+10A>G rs373954000 0.00006
NM_001081.4(CUBN):c.7106G>T (p.Gly2369Val) rs200593316 0.00006
NM_001081.4(CUBN):c.735C>T (p.Cys245=) rs766772944 0.00006
NM_001081.4(CUBN):c.879A>G (p.Pro293=) rs142466038 0.00006
NM_001081.4(CUBN):c.9298G>A (p.Asp3100Asn) rs202189846 0.00006
NM_005142.3(CBLIF):c.379G>A (p.Ala127Thr) rs760404861 0.00006
NM_006996.3(SLC19A2):c.-2G>A rs886045531 0.00006
NM_006996.3(SLC19A2):c.10C>T (p.Pro4Ser) rs886045530 0.00006
NM_006996.3(SLC19A2):c.795C>T (p.Pro265=) rs201489069 0.00006
NM_015702.3(MMADHC):c.*241A>G rs528409808 0.00006
NM_015702.3(MMADHC):c.254A>G (p.Asn85Ser) rs767542742 0.00006
NM_015702.3(MMADHC):c.515A>C (p.Lys172Thr) rs147318949 0.00006
NM_018368.4(LMBRD1):c.1438A>G (p.Thr480Ala) rs138023744 0.00006
NM_018368.4(LMBRD1):c.562C>T (p.His188Tyr) rs554554993 0.00006
NM_080669.6(SLC46A1):c.*1062G>A rs535633260 0.00006
NM_080669.6(SLC46A1):c.*11C>T rs782615925 0.00006
NM_080669.6(SLC46A1):c.*3135A>G rs762983414 0.00006
NM_080669.6(SLC46A1):c.*476G>A rs893997849 0.00006
NM_080669.6(SLC46A1):c.*60G>T rs41297121 0.00006
NM_080669.6(SLC46A1):c.898G>A (p.Asp300Asn) rs201540617 0.00006
NM_000096.4(CP):c.*912C>G rs149920453 0.00005
NM_000096.4(CP):c.1131C>T (p.Ala377=) rs150733154 0.00005
NM_000355.4(TCN2):c.-34A>G rs199511962 0.00005
NM_000373.4(UMPS):c.*1342C>T rs183081203 0.00005
NM_000373.4(UMPS):c.*1520del rs758378045 0.00005
NM_000373.4(UMPS):c.*2231G>A rs531076251 0.00005
NM_000373.4(UMPS):c.1316T>C (p.Ile439Thr) rs201516429 0.00005
NM_000617.3(SLC11A2):c.290G>C (p.Gly97Ala) rs138686455 0.00005
NM_000617.3(SLC11A2):c.932A>G (p.Asn311Ser) rs769742722 0.00005
NM_001081.4(CUBN):c.*195T>C rs886046859 0.00005
NM_001081.4(CUBN):c.*470T>C rs886046855 0.00005
NM_001081.4(CUBN):c.10102A>G (p.Met3368Val) rs767333853 0.00005
NM_001081.4(CUBN):c.1230C>T (p.Ile410=) rs144627803 0.00005
NM_001081.4(CUBN):c.4092C>G (p.Ser1364=) rs199763912 0.00005
NM_001081.4(CUBN):c.4797G>T (p.Leu1599Phe) rs201294291 0.00005
NM_001081.4(CUBN):c.4964C>G (p.Pro1655Arg) rs532968940 0.00005
NM_001081.4(CUBN):c.5189C>T (p.Thr1730Met) rs201958183 0.00005
NM_001174125.2(SLC11A2):c.49+1746C>T rs886763852 0.00005
NM_018368.4(LMBRD1):c.-117C>T rs550933505 0.00005
NM_000096.4(CP):c.2662-14T>C rs189155564 0.00004
NM_000355.3(TCN2):c.-191G>A rs886057394 0.00004
NM_000355.3(TCN2):c.-240G>A rs16988823 0.00004
NM_000373.4(UMPS):c.*2172A>G rs886057877 0.00004
NM_000373.4(UMPS):c.*3326C>T rs538340122 0.00004
NM_000373.4(UMPS):c.*3598C>G rs886057892 0.00004
NM_000373.4(UMPS):c.*4263T>C rs558675693 0.00004
NM_000373.4(UMPS):c.1052T>C (p.Val351Ala) rs763246334 0.00004
NM_000373.4(UMPS):c.811G>C (p.Asp271His) rs779077289 0.00004
NM_000617.3(SLC11A2):c.1663G>A (p.Ala555Thr) rs550969378 0.00004
NM_000617.3(SLC11A2):c.523C>T (p.Leu175=) rs373590039 0.00004
NM_001063.4(TF):c.334A>G (p.Thr112Ala) rs199624323 0.00004
NM_001063.4(TF):c.686T>C (p.Ile229Thr) rs764361166 0.00004
NM_001063.4(TF):c.790C>G (p.Gln264Glu) rs766883577 0.00004
NM_001081.3(CUBN):c.-50G>A rs370711661 0.00004
NM_001081.4(CUBN):c.*597A>C rs569828144 0.00004
NM_001081.4(CUBN):c.10363-3A>G rs765943248 0.00004
NM_001081.4(CUBN):c.1719A>T (p.Leu573Phe) rs148313915 0.00004
NM_001081.4(CUBN):c.2013A>G (p.Pro671=) rs137892259 0.00004
NM_001081.4(CUBN):c.2203G>A (p.Val735Ile) rs370770104 0.00004
NM_001081.4(CUBN):c.3692G>A (p.Ser1231Asn) rs150277370 0.00004
NM_001081.4(CUBN):c.4423A>G (p.Met1475Val) rs1290241240 0.00004
NM_001081.4(CUBN):c.5467A>G (p.Ile1823Val) rs946315516 0.00004
NM_001081.4(CUBN):c.6849G>A (p.Arg2283=) rs373804380 0.00004
NM_001081.4(CUBN):c.7001-4G>A rs886046871 0.00004
NM_001081.4(CUBN):c.8599-8C>T rs199774490 0.00004
NM_001081.4(CUBN):c.8617G>A (p.Glu2873Lys) rs142519035 0.00004
NM_001081.4(CUBN):c.8701G>A (p.Val2901Ile) rs201093611 0.00004
NM_001081.4(CUBN):c.9036G>A (p.Pro3012=) rs576867280 0.00004
NM_001081.4(CUBN):c.9442C>T (p.Arg3148Trp) rs749089689 0.00004
NM_001081.4(CUBN):c.9525G>A (p.Ser3175=) rs199499934 0.00004
NM_001081.4(CUBN):c.9714T>C (p.Gly3238=) rs141513734 0.00004
NM_015702.3(MMADHC):c.696+13C>A rs199528296 0.00004
NM_018368.4(LMBRD1):c.1501T>C (p.Phe501Leu) rs776133587 0.00004
NM_080669.6(SLC46A1):c.*1006A>C rs886052749 0.00004
NM_080669.6(SLC46A1):c.*2493A>G rs886052746 0.00004
NM_080669.6(SLC46A1):c.*297C>T rs1386304942 0.00004
NM_080669.6(SLC46A1):c.*351C>T rs1207587504 0.00004
NM_080669.6(SLC46A1):c.*785T>G rs886052750 0.00004
NM_080669.6(SLC46A1):c.389T>C (p.Val130Ala) rs369191223 0.00004
NM_000096.4(CP):c.1575A>G (p.Val525=) rs760634973 0.00003
NM_000355.4(TCN2):c.1058C>G (p.Ser353Cys) rs539987014 0.00003
NM_000355.4(TCN2):c.1063G>A (p.Val355Met) rs780429477 0.00003
NM_000355.4(TCN2):c.644G>A (p.Arg215Gln) rs760721315 0.00003
NM_000355.4(TCN2):c.882C>T (p.Pro294=) rs142689742 0.00003
NM_000373.4(UMPS):c.*1853G>A rs552936733 0.00003
NM_000373.4(UMPS):c.*2054A>G rs886057876 0.00003
NM_000373.4(UMPS):c.*2356T>C rs148772995 0.00003
NM_000373.4(UMPS):c.*2783C>T rs150877793 0.00003
NM_000373.4(UMPS):c.*3130C>T rs374728245 0.00003
NM_000373.4(UMPS):c.*4496G>A rs886057896 0.00003
NM_000373.4(UMPS):c.*4934A>G rs1274590115 0.00003
NM_000373.4(UMPS):c.1117T>G (p.Ser373Ala) rs541686805 0.00003
NM_000617.3(SLC11A2):c.*1007A>G rs886049560 0.00003
NM_000617.3(SLC11A2):c.*1559G>T rs777649881 0.00003
NM_000617.3(SLC11A2):c.*1902C>G rs886049558 0.00003
NM_000617.3(SLC11A2):c.1206G>A (p.Leu402=) rs761054843 0.00003
NM_000617.3(SLC11A2):c.514A>G (p.Ile172Val) rs886049568 0.00003
NM_001081.4(CUBN):c.*15G>A rs751434522 0.00003
NM_001081.4(CUBN):c.*297C>T rs886046857 0.00003
NM_001081.4(CUBN):c.*373G>T rs780298022 0.00003
NM_001081.4(CUBN):c.*380T>C rs188873973 0.00003
NM_001081.4(CUBN):c.*669C>T rs992917155 0.00003
NM_001081.4(CUBN):c.*81C>A rs886046861 0.00003
NM_001081.4(CUBN):c.10764+1G>A rs374982220 0.00003
NM_001081.4(CUBN):c.1653C>T (p.Ser551=) rs372499101 0.00003
NM_001081.4(CUBN):c.2318C>G (p.Thr773Ser) rs200658389 0.00003
NM_001081.4(CUBN):c.3745C>T (p.Arg1249Cys) rs368224687 0.00003
NM_001081.4(CUBN):c.387+13C>T rs766779196 0.00003
NM_001081.4(CUBN):c.6180G>A (p.Gly2060=) rs534571792 0.00003
NM_001081.4(CUBN):c.6277G>A (p.Gly2093Ser) rs759351780 0.00003
NM_001081.4(CUBN):c.6962G>T (p.Ser2321Ile) rs374628341 0.00003
NM_001081.4(CUBN):c.736G>A (p.Val246Ile) rs760990753 0.00003
NM_001081.4(CUBN):c.8016C>T (p.Asn2672=) rs151303316 0.00003
NM_001081.4(CUBN):c.8502G>A (p.Thr2834=) rs749545791 0.00003
NM_001081.4(CUBN):c.8921C>T (p.Thr2974Met) rs374477671 0.00003
NM_001081.4(CUBN):c.8971A>T (p.Met2991Leu) rs147160034 0.00003
NM_005142.3(CBLIF):c.371-15C>T rs759810252 0.00003
NM_005142.3(CBLIF):c.854A>G (p.Gln285Arg) rs886048402 0.00003
NM_006996.3(SLC19A2):c.*31A>G rs777625943 0.00003
NM_006996.3(SLC19A2):c.*658T>C rs1038511649 0.00003
NM_006996.3(SLC19A2):c.-12C>G rs772886076 0.00003
NM_006996.3(SLC19A2):c.1436T>C (p.Met479Thr) rs374046494 0.00003
NM_006996.3(SLC19A2):c.283C>T (p.Leu95Phe) rs759321228 0.00003
NM_006996.3(SLC19A2):c.487A>T (p.Ser163Cys) rs548333207 0.00003
NM_006996.3(SLC19A2):c.793C>T (p.Pro265Ser) rs17847481 0.00003
NM_015702.3(MMADHC):c.*267T>C rs546054980 0.00003
NM_018368.4(LMBRD1):c.417G>A (p.Thr139=) rs934259733 0.00003
NM_080669.6(SLC46A1):c.*1336G>A rs1435694827 0.00003
NM_080669.6(SLC46A1):c.*2273A>G rs542078425 0.00003
NM_080669.6(SLC46A1):c.752T>C (p.Ile251Thr) rs782457383 0.00003
NM_000096.4(CP):c.164A>G (p.Tyr55Cys) rs756029950 0.00002
NM_000096.4(CP):c.1907T>C (p.Met636Thr) rs776909143 0.00002
NM_000096.4(CP):c.199T>C (p.Tyr67His) rs201599525 0.00002
NM_000096.4(CP):c.229G>C (p.Asp77His) rs200683433 0.00002
NM_000096.4(CP):c.2310G>A (p.Lys770=) rs553883583 0.00002
NM_000096.4(CP):c.259C>T (p.Pro87Ser) rs749061188 0.00002
NM_000096.4(CP):c.3185C>A (p.Thr1062Asn) rs749381794 0.00002
NM_000096.4(CP):c.936C>T (p.Asp312=) rs373073229 0.00002
NM_000355.4(TCN2):c.905T>C (p.Ile302Thr) rs754330583 0.00002
NM_000373.4(UMPS):c.*1100C>T rs756033821 0.00002
NM_000373.4(UMPS):c.*1128G>T rs556684234 0.00002
NM_000373.4(UMPS):c.*3447T>C rs764528076 0.00002
NM_000373.4(UMPS):c.*4638G>A rs900083389 0.00002
NM_000373.4(UMPS):c.*691C>G rs886057872 0.00002
NM_000373.4(UMPS):c.-19A>G rs747117815 0.00002
NM_000373.4(UMPS):c.1088G>A (p.Arg363Gln) rs201332523 0.00002
NM_000373.4(UMPS):c.1158G>A (p.Ala386=) rs749629397 0.00002
NM_000373.4(UMPS):c.1290A>G (p.Gln430=) rs17843847 0.00002
NM_000373.4(UMPS):c.385G>T (p.Gly129Ter) rs747405574 0.00002
NM_000617.3(SLC11A2):c.*1360A>G rs573581505 0.00002
NM_000617.3(SLC11A2):c.*420G>A rs886049564 0.00002
NM_000617.3(SLC11A2):c.1049C>T (p.Ser350Leu) rs376365060 0.00002
NM_000617.3(SLC11A2):c.921C>T (p.Ser307=) rs762100462 0.00002
NM_001063.4(TF):c.502+12G>A rs201033555 0.00002
NM_001063.4(TF):c.828C>T (p.Gly276=) rs769998552 0.00002
NM_001081.4(CUBN):c.*564G>C rs184284227 0.00002
NM_001081.4(CUBN):c.3517A>G (p.Ser1173Gly) rs768104200 0.00002
NM_001081.4(CUBN):c.4375T>G (p.Ser1459Ala) rs886046875 0.00002
NM_001081.4(CUBN):c.4598A>G (p.Asn1533Ser) rs1025505410 0.00002
NM_001081.4(CUBN):c.4811G>T (p.Gly1604Val) rs751110627 0.00002
NM_001081.4(CUBN):c.483G>A (p.Gln161=) rs371508247 0.00002
NM_001081.4(CUBN):c.5917A>G (p.Ile1973Val) rs556462218 0.00002
NM_001081.4(CUBN):c.6282A>T (p.Gly2094=) rs576557890 0.00002
NM_001081.4(CUBN):c.6359G>A (p.Trp2120Ter) rs566060177 0.00002
NM_001081.4(CUBN):c.8254G>T (p.Gly2752Cys) rs747786939 0.00002
NM_001081.4(CUBN):c.8382T>C (p.Phe2794=) rs200808196 0.00002
NM_001081.4(CUBN):c.8831T>C (p.Met2944Thr) rs544783535 0.00002
NM_006996.3(SLC19A2):c.30G>A (p.Arg10=) rs928593954 0.00002
NM_006996.3(SLC19A2):c.42G>T (p.Ala14=) rs945252214 0.00002
NM_015702.3(MMADHC):c.373G>C (p.Gly125Arg) rs760971849 0.00002
NM_015702.3(MMADHC):c.697-3C>T rs770272562 0.00002
NM_015702.3(MMADHC):c.800A>G (p.His267Arg) rs753424109 0.00002
NM_018368.4(LMBRD1):c.897C>T (p.Gly299=) rs757392138 0.00002
NM_080669.6(SLC46A1):c.*1298G>A rs139970165 0.00002
NM_080669.6(SLC46A1):c.*3661T>C rs782774927 0.00002
NM_080669.6(SLC46A1):c.-8G>A rs782192529 0.00002
NM_000096.4(CP):c.*343A>G rs886058085 0.00001
NM_000096.4(CP):c.1037-3C>A rs754289834 0.00001
NM_000096.4(CP):c.125A>G (p.Lys42Arg) rs886058090 0.00001
NM_000096.4(CP):c.1309A>G (p.Lys437Glu) rs764238637 0.00001
NM_000096.4(CP):c.1379C>T (p.Thr460Ile) rs370863732 0.00001
NM_000096.4(CP):c.1380C>T (p.Thr460=) rs149790356 0.00001
NM_000096.4(CP):c.1478C>T (p.Pro493Leu) rs1391447500 0.00001
NM_000096.4(CP):c.1713+3A>G rs372361874 0.00001
NM_000096.4(CP):c.2180T>C (p.Phe727Ser) rs886058087 0.00001
NM_000096.4(CP):c.2266C>A (p.His756Asn) rs773420516 0.00001
NM_000096.4(CP):c.2611G>A (p.Asp871Asn) rs529607771 0.00001
NM_000096.4(CP):c.2697T>C (p.Val899=) rs17847022 0.00001
NM_000355.4(TCN2):c.*329G>A rs779850312 0.00001
NM_000355.4(TCN2):c.*37C>T rs531866634 0.00001
NM_000355.4(TCN2):c.*383C>T rs896720175 0.00001
NM_000355.4(TCN2):c.-67C>T rs1432247695 0.00001
NM_000355.4(TCN2):c.459C>T (p.Ser153=) rs201344377 0.00001
NM_000355.4(TCN2):c.529G>A (p.Asp177Asn) rs773855163 0.00001
NM_000355.4(TCN2):c.899C>T (p.Thr300Ile) rs763836785 0.00001
NM_000373.4(UMPS):c.*1080A>G rs780894047 0.00001
NM_000373.4(UMPS):c.*1249C>G rs1355056450 0.00001
NM_000373.4(UMPS):c.*1418T>A rs886057874 0.00001
NM_000373.4(UMPS):c.*1535G>A rs886057875 0.00001
NM_000373.4(UMPS):c.*1840A>G rs183441859 0.00001
NM_000373.4(UMPS):c.*2197A>G rs1443804306 0.00001
NM_000373.4(UMPS):c.*2632C>A rs886057879 0.00001
NM_000373.4(UMPS):c.*2741C>T rs2063604796 0.00001
NM_000373.4(UMPS):c.*3083G>T rs886057887 0.00001
NM_000373.4(UMPS):c.*3193T>C rs886057889 0.00001
NM_000373.4(UMPS):c.*3258A>C rs886057890 0.00001
NM_000373.4(UMPS):c.*3495T>C rs886057891 0.00001
NM_000373.4(UMPS):c.*3512C>G rs997779825 0.00001
NM_000373.4(UMPS):c.*3594A>G rs546056717 0.00001
NM_000373.4(UMPS):c.*4432A>G rs1181472642 0.00001
NM_000373.4(UMPS):c.*4782G>A rs2063624147 0.00001
NM_000373.4(UMPS):c.*4862A>G rs886057898 0.00001
NM_000373.4(UMPS):c.*5014C>T rs569469184 0.00001
NM_000373.4(UMPS):c.*5027A>G rs886057899 0.00001
NM_000373.4(UMPS):c.*5085C>A rs929552121 0.00001
NM_000373.4(UMPS):c.*5133del rs886057901 0.00001
NM_000373.4(UMPS):c.*516A>G rs1393987054 0.00001
NM_000373.4(UMPS):c.768A>G (p.Leu256=) rs780392037 0.00001
NM_000617.3(SLC11A2):c.*1367T>C rs1235162595 0.00001
NM_000617.3(SLC11A2):c.*1615T>C rs557225035 0.00001
NM_000617.3(SLC11A2):c.*32A>G rs886049565 0.00001
NM_000617.3(SLC11A2):c.*985G>A rs886049562 0.00001
NM_000617.3(SLC11A2):c.*986C>A rs886049561 0.00001
NM_000617.3(SLC11A2):c.-96C>T rs747408183 0.00001
NM_000617.3(SLC11A2):c.1197G>C (p.Glu399Asp) rs121918365 0.00001
NM_000617.3(SLC11A2):c.1511A>G (p.His504Arg) rs1229345464 0.00001
NM_000617.3(SLC11A2):c.1596A>C (p.Ala532=) rs760783598 0.00001
NM_000617.3(SLC11A2):c.1655C>T (p.Thr552Ile) rs1469622244 0.00001
NM_000617.3(SLC11A2):c.647C>T (p.Thr216Ile) rs886049567 0.00001
NM_001063.4(TF):c.1029G>A (p.Arg343=) rs762383370 0.00001
NM_001063.4(TF):c.1198A>G (p.Ile400Val) rs200250866 0.00001
NM_001063.4(TF):c.1204-14C>A rs1406126776 0.00001
NM_001063.4(TF):c.1785C>T (p.Asn595=) rs757985238 0.00001
NM_001063.4(TF):c.311A>G (p.Tyr104Cys) rs746672239 0.00001
NM_001063.4(TF):c.60C>T (p.Val20=) rs756125441 0.00001
NM_001063.4(TF):c.680C>T (p.Ser227Leu) rs1295939213 0.00001
NM_001081.4(CUBN):c.*203C>T rs769041830 0.00001
NM_001081.4(CUBN):c.*281A>G rs886046858 0.00001
NM_001081.4(CUBN):c.*446A>G rs1315458918 0.00001
NM_001081.4(CUBN):c.-42G>T rs751905101 0.00001
NM_001081.4(CUBN):c.10012C>A (p.Gln3338Lys) rs755210947 0.00001
NM_001081.4(CUBN):c.10181-14A>G rs886046864 0.00001
NM_001081.4(CUBN):c.10238A>G (p.Asp3413Gly) rs760807440 0.00001
NM_001081.4(CUBN):c.2311G>A (p.Gly771Ser) rs866820343 0.00001
NM_001081.4(CUBN):c.2441A>G (p.Gln814Arg) rs770392464 0.00001
NM_001081.4(CUBN):c.2536A>G (p.Ile846Val) rs775423928 0.00001
NM_001081.4(CUBN):c.3308A>G (p.Tyr1103Cys) rs760682560 0.00001
NM_001081.4(CUBN):c.3944G>A (p.Gly1315Asp) rs773480436 0.00001
NM_001081.4(CUBN):c.4242C>T (p.Asn1414=) rs138052938 0.00001
NM_001081.4(CUBN):c.4837C>T (p.Arg1613Ter) rs769881615 0.00001
NM_001081.4(CUBN):c.5076C>T (p.Leu1692=) rs886046874 0.00001
NM_001081.4(CUBN):c.5131G>A (p.Ala1711Thr) rs768182223 0.00001
NM_001081.4(CUBN):c.6729G>A (p.Pro2243=) rs757609735 0.00001
NM_001081.4(CUBN):c.7069T>C (p.Tyr2357His) rs376122892 0.00001
NM_001081.4(CUBN):c.7070A>C (p.Tyr2357Ser) rs886046870 0.00001
NM_001081.4(CUBN):c.7084T>A (p.Phe2362Ile) rs757192279 0.00001
NM_001081.4(CUBN):c.7533A>C (p.Ile2511=) rs748416223 0.00001
NM_001081.4(CUBN):c.8095G>A (p.Val2699Met) rs535261179 0.00001
NM_001081.4(CUBN):c.8222C>A (p.Thr2741Asn) rs771697506 0.00001
NM_001081.4(CUBN):c.8479G>A (p.Glu2827Lys) rs373893072 0.00001
NM_001081.4(CUBN):c.8656G>A (p.Val2886Met) rs200235278 0.00001
NM_001081.4(CUBN):c.8908C>T (p.Arg2970Cys) rs562374248 0.00001
NM_001081.4(CUBN):c.8943C>T (p.Gly2981=) rs767131065 0.00001
NM_001081.4(CUBN):c.9037G>T (p.Val3013Phe) rs1241849194 0.00001
NM_001081.4(CUBN):c.9228C>T (p.Ile3076=) rs976401499 0.00001
NM_001081.4(CUBN):c.9618G>A (p.Leu3206=) rs559567467 0.00001
NM_001174125.2(SLC11A2):c.49+1791C>T rs920922103 0.00001
NM_005142.3(CBLIF):c.*56T>G rs886048401 0.00001
NM_005142.3(CBLIF):c.1180C>T (p.Pro394Ser) rs766270119 0.00001
NM_005142.3(CBLIF):c.239T>C (p.Met80Thr) rs376339959 0.00001
NM_006996.3(SLC19A2):c.*1927C>T rs1657926116 0.00001
NM_006996.3(SLC19A2):c.*627C>T rs886045527 0.00001
NM_006996.3(SLC19A2):c.1008G>A (p.Val336=) rs772129644 0.00001
NM_006996.3(SLC19A2):c.1149G>C (p.Val383=) rs747484241 0.00001
NM_006996.3(SLC19A2):c.515G>A (p.Gly172Asp) rs28937595 0.00001
NM_006996.3(SLC19A2):c.807+6C>G rs201700843 0.00001
NM_006996.3(SLC19A2):c.909C>G (p.Ala303=) rs1351692845 0.00001
NM_015506.3(MMACHC):c.394C>T (p.Arg132Ter) rs121918241 0.00001
NM_015702.3(MMADHC):c.244T>G (p.Cys82Gly) rs760590651 0.00001
NM_018368.4(LMBRD1):c.115C>T (p.Arg39Trp) rs748879055 0.00001
NM_018368.4(LMBRD1):c.116G>A (p.Arg39Gln) rs886061692 0.00001
NM_018368.4(LMBRD1):c.1347A>G (p.Ile449Met) rs771561971 0.00001
NM_018368.4(LMBRD1):c.41G>C (p.Gly14Ala) rs201773048 0.00001
NM_018368.4(LMBRD1):c.867T>A (p.Ile289=) rs747318789 0.00001
NM_080669.6(SLC46A1):c.*1220A>G rs886052748 0.00001
NM_080669.6(SLC46A1):c.*129C>T rs886052752 0.00001
NM_080669.6(SLC46A1):c.*1521G>A rs988138947 0.00001
NM_080669.6(SLC46A1):c.*2027C>A rs149579635 0.00001
NM_080669.6(SLC46A1):c.*2808G>C rs886052744 0.00001
NM_080669.6(SLC46A1):c.*3789C>A rs886052740 0.00001
NM_080669.6(SLC46A1):c.*4158G>A rs1216449496 0.00001
NM_080669.6(SLC46A1):c.*4320A>G rs528235797 0.00001
NM_080669.6(SLC46A1):c.1367C>T (p.Pro456Leu) rs886052754 0.00001
NM_080669.6(SLC46A1):c.277G>A (p.Gly93Ser) rs374179004 0.00001
NM_080669.6(SLC46A1):c.462C>T (p.Leu154=) rs782480845 0.00001
NM_000096.4(CP):c.*1007T>A rs36120450
NM_000096.4(CP):c.*373C>T rs370247691
NM_000096.4(CP):c.*536G>C rs1725167347
NM_000096.4(CP):c.*583T>C rs886058084
NM_000096.4(CP):c.*828dup rs35907111
NM_000096.4(CP):c.1199C>A (p.Ala400Glu) rs1446212124
NM_000096.4(CP):c.1774C>G (p.Leu592Val) rs200226362
NM_000096.4(CP):c.1774C>T (p.Leu592Phe) rs200226362
NM_000096.4(CP):c.1864+1G>C rs1559942361
NM_000096.4(CP):c.1973T>C (p.Ile658Thr) rs1726190460
NM_000096.4(CP):c.2268T>C (p.His756=) rs765341479
NM_000096.4(CP):c.2286-14dup rs561633350
NM_000096.4(CP):c.2286-15G>T rs34861155
NM_000096.4(CP):c.2496C>T (p.Tyr832=) rs1199272207
NM_000096.4(CP):c.2554+14C>G rs200965170
NM_000096.4(CP):c.2557G>A (p.Glu853Lys) rs886058086
NM_000096.4(CP):c.2621G>A (p.Cys874Tyr) rs570400135
NM_000096.4(CP):c.508G>A (p.Gly170Arg) rs886058089
NM_000096.4(CP):c.701A>G (p.Asp234Gly) rs769311718
NM_000096.4(CP):c.850T>C (p.Tyr284His) rs886058088
NM_000096.4(CP):c.921G>A (p.Lys307=) rs543777038
NM_000355.3(TCN2):c.-181A>C rs2240433
NM_000355.3(TCN2):c.-215C>T rs79083159
NM_000355.3(TCN2):c.497_498del (p.Leu166Profs) rs778381859
NM_000355.4(TCN2):c.*173C>T rs896653059
NM_000355.4(TCN2):c.*209G>C rs146450057
NM_000355.4(TCN2):c.*283C>G rs538133033
NM_000355.4(TCN2):c.*29C>A rs190828416
NM_000355.4(TCN2):c.*313dup rs397940476
NM_000355.4(TCN2):c.*415T>G rs560130628
NM_000355.4(TCN2):c.*93G>C rs886057398
NM_000355.4(TCN2):c.-153C>G rs886057395
NM_000355.4(TCN2):c.-6G>A rs771507572
NM_000355.4(TCN2):c.1092G>A (p.Glu364=) rs886057397
NM_000355.4(TCN2):c.408G>C (p.Glu136Asp) rs886057396
NM_000355.4(TCN2):c.559C>T (p.His187Tyr) rs1295178933
NM_000355.4(TCN2):c.562C>T (p.Gln188Ter) rs1456983114
NM_000355.4(TCN2):c.581-4C>T rs867249218
NM_000355.4(TCN2):c.581-8A>C rs7290898
NM_000355.4(TCN2):c.581-8A>G rs7290898
NM_000355.4(TCN2):c.581-8A>T rs7290898
NM_000355.4(TCN2):c.810G>A (p.Ala270=) rs61748898
NM_000355.4(TCN2):c.810G>T (p.Ala270=) rs61748898
NM_000373.4(UMPS):c.*1153C>T rs768119744
NM_000373.4(UMPS):c.*1298_*1299del rs11330991
NM_000373.4(UMPS):c.*1299del rs11330991
NM_000373.4(UMPS):c.*1306_*1307del rs777742646
NM_000373.4(UMPS):c.*1843A>C rs920254780
NM_000373.4(UMPS):c.*2035C>T rs2063595086
NM_000373.4(UMPS):c.*2036A>T rs1211026340
NM_000373.4(UMPS):c.*2202del rs397844102
NM_000373.4(UMPS):c.*2412GAA[1] rs369976877
NM_000373.4(UMPS):c.*255T>C rs2063580266
NM_000373.4(UMPS):c.*2631C>G rs2063601529
NM_000373.4(UMPS):c.*2671T>G rs886057880
NM_000373.4(UMPS):c.*2672TG[18] rs58981387
NM_000373.4(UMPS):c.*2672TG[20] rs58981387
NM_000373.4(UMPS):c.*2672TG[22] rs58981387
NM_000373.4(UMPS):c.*2672TG[24] rs58981387
NM_000373.4(UMPS):c.*2672TG[25] rs58981387
NM_000373.4(UMPS):c.*2672TG[26] rs58981387
NM_000373.4(UMPS):c.*2703G>A rs886057883
NM_000373.4(UMPS):c.*2711G>A rs2063603702
NM_000373.4(UMPS):c.*2715_*2718del rs886057884
NM_000373.4(UMPS):c.*2716T>C rs886057885
NM_000373.4(UMPS):c.*2718C>T rs201997594
NM_000373.4(UMPS):c.*2930TTTG[4] rs10631393
NM_000373.4(UMPS):c.*3367C>A rs768556841
NM_000373.4(UMPS):c.*4013ATATA[1] rs541152211
NM_000373.4(UMPS):c.*4316C>A rs689449
NM_000373.4(UMPS):c.*4570C>T rs1387243813
NM_000373.4(UMPS):c.*469C>T rs2063582436
NM_000373.4(UMPS):c.*4765_*4767del rs886057897
NM_000373.4(UMPS):c.*4883C>T rs148029686
NM_000373.4(UMPS):c.*5120_*5124del rs556352266
NM_000373.4(UMPS):c.*814C>T rs763914466
NM_000373.4(UMPS):c.*882G>C rs2063585502
NM_000373.4(UMPS):c.105C>T (p.Pro35=) rs772728104
NM_000373.4(UMPS):c.1158+10G>C rs371807738
NM_000373.4(UMPS):c.18A>G (p.Ala6=) rs141501397
NM_000373.4(UMPS):c.441T>C (p.Thr147=) rs886057871
NM_000373.4(UMPS):c.799T>C (p.Leu267=) rs2063529927
NM_000373.4(UMPS):c.857T>A (p.Ile286Asn) rs200305064
NM_000617.3(SLC11A2):c.*1444C>T rs946003076
NM_000617.3(SLC11A2):c.*1466dup rs561463670
NM_000617.3(SLC11A2):c.*1752dup rs755515112
NM_000617.3(SLC11A2):c.*2083_*2084del rs886049557
NM_000617.3(SLC11A2):c.*2289G>T rs867212578
NM_000617.3(SLC11A2):c.*2320del rs141968385
NM_000617.3(SLC11A2):c.*295G>A rs1940770079
NM_000617.3(SLC11A2):c.*970A>G rs886049563
NM_000617.3(SLC11A2):c.-38-3C>T rs886049569
NM_000617.3(SLC11A2):c.-39+12G>A rs1944384418
NM_000617.3(SLC11A2):c.1421+8T>A rs886049566
NM_000617.3(SLC11A2):c.1576-7C>G rs1940818391
NM_000617.3(SLC11A2):c.436C>G (p.Arg146Gly) rs774857007
NM_000617.3(SLC11A2):c.828C>G (p.Val276=) rs754854640
NM_001063.4(TF):c.*81A>G rs886058015
NM_001063.4(TF):c.142G>A (p.Val48Ile) rs144636315
NM_001063.4(TF):c.1687+9A>C rs886058014
NM_001063.4(TF):c.174T>A (p.Cys58Ter) rs1559867036
NM_001063.4(TF):c.1805C>A (p.Pro602Gln) rs41296598
NM_001081.4(CUBN):c.*177C>G rs886046860
NM_001081.4(CUBN):c.*267A>T rs1203238498
NM_001081.4(CUBN):c.*304G>T rs2131292535
NM_001081.4(CUBN):c.*329C>G rs376727720
NM_001081.4(CUBN):c.*329C>T rs376727720
NM_001081.4(CUBN):c.*330G>A rs181630914
NM_001081.4(CUBN):c.*330G>C rs181630914
NM_001081.4(CUBN):c.*420C>T rs182278265
NM_001081.4(CUBN):c.*453A>G rs1838716540
NM_001081.4(CUBN):c.*460C>A rs1588559715
NM_001081.4(CUBN):c.*514T>G rs886046854
NM_001081.4(CUBN):c.*794A>G rs886046852
NM_001081.4(CUBN):c.*883G>A rs886046851
NM_001081.4(CUBN):c.10077G>C (p.Ser3359=) rs147563157
NM_001081.4(CUBN):c.10143C>G (p.Asn3381Lys) rs1839164438
NM_001081.4(CUBN):c.1036G>C (p.Val346Leu) rs886046879
NM_001081.4(CUBN):c.10466T>G (p.Phe3489Cys) rs886046863
NM_001081.4(CUBN):c.10656C>A (p.Asn3552Lys) rs1801232
NM_001081.4(CUBN):c.10656C>T (p.Asn3552=) rs1801232
NM_001081.4(CUBN):c.10728C>G (p.Asn3576Lys) rs368511477
NM_001081.4(CUBN):c.10742C>T (p.Ser3581Phe) rs2131299558
NM_001081.4(CUBN):c.10752A>T (p.Pro3584=) rs886046862
NM_001081.4(CUBN):c.10777G>A (p.Ala3593Thr) rs1838734881
NM_001081.4(CUBN):c.10846G>A (p.Ala3616Thr) rs564429505
NM_001081.4(CUBN):c.1405G>C (p.Val469Leu) rs780440368
NM_001081.4(CUBN):c.1911C>T (p.Leu637=) rs41289311
NM_001081.4(CUBN):c.2110+10C>G rs752409034
NM_001081.4(CUBN):c.2110T>G (p.Ser704Ala) rs2131865310
NM_001081.4(CUBN):c.2151T>C (p.Gly717=) rs1836053318
NM_001081.4(CUBN):c.2447-15T>A rs886046877
NM_001081.4(CUBN):c.2673C>T (p.Cys891=) rs386833778
NM_001081.4(CUBN):c.3551C>G (p.Pro1184Arg) rs886046876
NM_001081.4(CUBN):c.3604G>A (p.Ala1202Thr) rs141740096
NM_001081.4(CUBN):c.3604G>T (p.Ala1202Ser) rs141740096
NM_001081.4(CUBN):c.3823C>T (p.Arg1275Trp) rs189294363
NM_001081.4(CUBN):c.3931C>T (p.Arg1311Trp) rs776683073
NM_001081.4(CUBN):c.4020C>G (p.Leu1340=) rs769326338
NM_001081.4(CUBN):c.409A>C (p.Ser137Arg) rs202053511
NM_001081.4(CUBN):c.4633A>C (p.Asn1545His) rs1391948790
NM_001081.4(CUBN):c.489+14T>C rs886046882
NM_001081.4(CUBN):c.5222C>A (p.Thr1741Lys) rs144943516
NM_001081.4(CUBN):c.5285T>G (p.Val1762Gly) rs149164899
NM_001081.4(CUBN):c.5302A>G (p.Ile1768Val) rs779378713
NM_001081.4(CUBN):c.5305G>A (p.Val1769Ile) rs74116778
NM_001081.4(CUBN):c.5305G>C (p.Val1769Leu) rs74116778
NM_001081.4(CUBN):c.5343-11C>T rs777975604
NM_001081.4(CUBN):c.5343-6A>G rs776579478
NM_001081.4(CUBN):c.5569G>A (p.Val1857Met) rs886046873
NM_001081.4(CUBN):c.5840C>A (p.Ser1947Tyr) rs147617753
NM_001081.4(CUBN):c.5911C>A (p.Pro1971Thr) rs2356590
NM_001081.4(CUBN):c.5913_5916del (p.Thr1972fs) rs765301342
NM_001081.4(CUBN):c.5961A>G (p.Ala1987=) rs886046872
NM_001081.4(CUBN):c.6145C>A (p.Gln2049Lys) rs141319759
NM_001081.4(CUBN):c.6276C>T (p.Cys2092=) rs146319349
NM_001081.4(CUBN):c.7316C>G (p.Ser2439Ter) rs1564421451
NM_001081.4(CUBN):c.7346T>C (p.Met2449Thr) rs41301097
NM_001081.4(CUBN):c.7586G>A (p.Ser2529Asn) rs886046868
NM_001081.4(CUBN):c.7798G>A (p.Glu2600Lys) rs766806038
NM_001081.4(CUBN):c.7816C>A (p.Pro2606Thr) rs886046867
NM_001081.4(CUBN):c.7861dup (p.Tyr2621fs) rs1564415858
NM_001081.4(CUBN):c.8219C>A (p.Thr2740Lys) rs2131420801
NM_001081.4(CUBN):c.8233G>A (p.Asp2745Asn) rs886046865
NM_001081.4(CUBN):c.8273C>T (p.Pro2758Leu) rs2131420669
NM_001081.4(CUBN):c.827C>T (p.Thr276Ile) rs886046881
NM_001081.4(CUBN):c.8831T>G (p.Met2944Arg) rs544783535
NM_001081.4(CUBN):c.8977A>G (p.Thr2993Ala) rs1408193576
NM_001081.4(CUBN):c.923A>C (p.Glu308Ala) rs886046880
NM_001081.4(CUBN):c.9397A>C (p.Lys3133Gln) rs1432636083
NM_001081.4(CUBN):c.9990A>C (p.Gln3330His) rs1839305562
NM_001174125.2(SLC11A2):c.49+1757C>T rs1057516023
NM_001849.4(COL6A2):c.*119A>G rs1043962
NM_001849.4(COL6A2):c.2697G>T (p.Thr899=) rs11554669
NM_005142.3(CBLIF):c.1074-14A>G rs541611142
NM_005142.3(CBLIF):c.138G>A (p.Ser46=) rs200472519
NM_005142.3(CBLIF):c.232C>T (p.Gln78Ter) rs1565210437
NM_005142.3(CBLIF):c.524T>C (p.Met175Thr) rs886048404
NM_005142.3(CBLIF):c.574G>A (p.Glu192Lys) rs1866524413
NM_005142.3(CBLIF):c.834G>C (p.Lys278Asn) rs886048403
NM_005334.3(HCFC1):c.1355C>T (p.Ala452Val) rs868948937
NM_006657.3(FTCD):c.*113C>T rs886057173
NM_006657.3(FTCD):c.*127C>A rs538433909
NM_006657.3(FTCD):c.*67C>T rs139773262
NM_006996.3(SLC19A2):c.*1349T>C rs1657943320
NM_006996.3(SLC19A2):c.*1493G>A rs886045524
NM_006996.3(SLC19A2):c.*1523A>G rs886045523
NM_006996.3(SLC19A2):c.*1524C>T rs79478264
NM_006996.3(SLC19A2):c.*1539CTGT[1] rs886045522
NM_006996.3(SLC19A2):c.*1543C>G rs1657937297
NM_006996.3(SLC19A2):c.*1588T>G rs886045521
NM_006996.3(SLC19A2):c.*174C>G rs1657969443
NM_006996.3(SLC19A2):c.*1901AATA[1] rs745730912
NM_006996.3(SLC19A2):c.*255A>T rs562829928
NM_006996.3(SLC19A2):c.*390T>G rs886045528
NM_006996.3(SLC19A2):c.*440T>C rs1657963505
NM_006996.3(SLC19A2):c.*712dup rs886045526
NM_006996.3(SLC19A2):c.*898_*899del rs886045525
NM_006996.3(SLC19A2):c.-103G>A rs886045532
NM_006996.3(SLC19A2):c.-163G>T rs886045533
NM_006996.3(SLC19A2):c.1327G>A (p.Val443Ile) rs754002628
NM_006996.3(SLC19A2):c.180G>T (p.Pro60=) rs1198335067
NM_006996.3(SLC19A2):c.200G>C (p.Arg67Thr) rs369937650
NM_006996.3(SLC19A2):c.205-25_205-24dup rs755410874
NM_006996.3(SLC19A2):c.205-25dup rs755410874
NM_006996.3(SLC19A2):c.287G>A (p.Arg96His) rs558617037
NM_006996.3(SLC19A2):c.518C>G (p.Ser173Cys) rs758126745
NM_006996.3(SLC19A2):c.808-1G>A rs1557889336
NM_006996.3(SLC19A2):c.845T>C (p.Leu282Pro) rs886045529
NM_015506.3(MMACHC):c.658_660del (p.Lys220del) rs398124296
NM_015702.3(MMADHC):c.-136G>C rs1682898571
NM_015702.3(MMADHC):c.-145A>G rs12477482
NM_015702.3(MMADHC):c.-52-3C>G rs886054922
NM_015702.3(MMADHC):c.-62G>A rs886054924
NM_015702.3(MMADHC):c.10-3T>C rs886054921
NM_015702.3(MMADHC):c.166G>A (p.Val56Met) rs1682767724
NM_015702.3(MMADHC):c.699T>C (p.Phe233=) rs1682618008
NM_015702.3(MMADHC):c.735T>G (p.Thr245=) rs530553915
NM_015702.3(MMADHC):c.73G>T (p.Val25Phe) rs549522925
NM_015702.3(MMADHC):c.759A>T (p.Gly253=) rs886054920
NM_018368.4(LMBRD1):c.*220G>T rs1765534415
NM_018368.4(LMBRD1):c.*77G>T rs886061690
NM_018368.4(LMBRD1):c.-57T>C rs886061693
NM_018368.4(LMBRD1):c.-88C>G rs557851763
NM_018368.4(LMBRD1):c.100C>G (p.Arg34Gly) rs773844453
NM_018368.4(LMBRD1):c.160C>G (p.Leu54Val) rs1402538766
NM_018368.4(LMBRD1):c.1611C>G (p.Val537=) rs534280770
NM_018368.4(LMBRD1):c.582A>G (p.Ser194=) rs1387756161
NM_018368.4(LMBRD1):c.981-14G>T rs1324981458
NM_032383.5(HPS3):c.2887+19dup rs397710976
NM_080669.6(SLC46A1):c.*1335C>T rs1390797851
NM_080669.6(SLC46A1):c.*1383A>G rs560836860
NM_080669.6(SLC46A1):c.*1627T>A rs886052747
NM_080669.6(SLC46A1):c.*1981C>T rs41297919
NM_080669.6(SLC46A1):c.*2401G>A rs555975005
NM_080669.6(SLC46A1):c.*2486T>C rs537647948
NM_080669.6(SLC46A1):c.*2513G>C rs576823032
NM_080669.6(SLC46A1):c.*2661G>C rs886052745
NM_080669.6(SLC46A1):c.*277A>G rs886052751
NM_080669.6(SLC46A1):c.*2901C>T rs2068129559
NM_080669.6(SLC46A1):c.*2945G>A rs1339848912
NM_080669.6(SLC46A1):c.*2968C>T rs12453383
NM_080669.6(SLC46A1):c.*3009= rs2239910
NM_080669.6(SLC46A1):c.*3009G>A rs2239910
NM_080669.6(SLC46A1):c.*3203A>G rs886052743
NM_080669.6(SLC46A1):c.*3302A>G rs886052742
NM_080669.6(SLC46A1):c.*3402A>G rs781986662
NM_080669.6(SLC46A1):c.*3456G>C rs372946020
NM_080669.6(SLC46A1):c.*3603C>T rs782370729
NM_080669.6(SLC46A1):c.*3677C>G rs886052741
NM_080669.6(SLC46A1):c.*3913A>T rs886052739
NM_080669.6(SLC46A1):c.*4035G>A rs569679076
NM_080669.6(SLC46A1):c.*4184T>G rs2068108606
NM_080669.6(SLC46A1):c.*4584C>T rs116278566
NM_080669.6(SLC46A1):c.*4634_*4635dup rs34879232
NM_080669.6(SLC46A1):c.*4635dup rs34879232
NM_080669.6(SLC46A1):c.*4742A>G rs886052736
NM_080669.6(SLC46A1):c.*4G>T rs886052753
NM_080669.6(SLC46A1):c.*90G>A rs782079474
NM_080669.6(SLC46A1):c.189G>C (p.Arg63Ser) rs41297071
NM_080669.6(SLC46A1):c.189G>T (p.Arg63Ser) rs41297071
NM_080669.6(SLC46A1):c.501C>G (p.Ser167=) rs2068243273
NM_080669.6(SLC46A1):c.667A>T (p.Thr223Ser) rs886052756
NM_080669.6(SLC46A1):c.904A>C (p.Lys302Gln) rs886052755
NM_080669.6(SLC46A1):c.906A>G (p.Lys302=) rs572650603
NM_206965.2(FTCD):c.1443+9del rs372045405
NM_206965.2(FTCD):c.1540-17_1540-16del rs747091513
NM_206965.2(FTCD):c.766_767del (p.Glu256fs) rs1568979227
NM_206965.2(FTCD):c.997del (p.Arg333fs) rs1568974130

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