ClinVar Miner

List of variants studied for hematologic disorder by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

Included ClinVar conditions (819):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 959
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HGVS dbSNP gnomAD frequency
NM_000476.3(AK1):c.477T>C (p.Pro159=) rs913986 0.99820
NM_000037.4(ANK1):c.5096+16T>C rs508112 0.97818
NM_014915.3(ANKRD26):c.59A>G (p.Gln20Arg) rs7897309 0.90221
NM_001081.4(CUBN):c.2791+130G>A rs4747297 0.86168
NM_014915.3(ANKRD26):c.2376-16A>G rs7096505 0.83236
NM_000791.4(DHFR):c.-473T>C rs1650697 0.80068
NM_001770.6(CD19):c.520C>G (p.Leu174Val) rs2904880 0.76211
NM_000037.4(ANK1):c.5479-3T>C rs515071 0.75703
NM_001081.4(CUBN):c.8905+137T>A rs780847 0.75177
NM_001002010.5(NT5C3A):c.378T>C (p.Tyr126=) rs3750117 0.71939
NM_000355.4(TCN2):c.776G>C (p.Arg259Pro) rs1801198 0.63049
NM_138477.4(CDAN1):c.3474A>C (p.Leu1158=) rs16957091 0.41429
NM_138477.4(CDAN1):c.320A>T (p.Gln107Leu) rs4265781 0.41423
NM_000637.5(GSR):c.696-10C>T rs8190996 0.41377
NM_138477.4(CDAN1):c.1787A>G (p.Gln596Arg) rs12917189 0.40225
NM_000057.4(BLM):c.2555+7T>C rs3815003 0.37072
NM_000559.3(HBG1):c.227C>T (p.Thr76Ile) rs1061234 0.35682
NM_138477.4(CDAN1):c.2352+8C>T rs12594483 0.34139
NM_001375808.2(LPIN2):c.1168+44T>C rs3826637 0.31167
NM_030943.4(AMN):c.1170-37C>G rs148815688 0.29891
NM_000289.6(PFKM):c.2334T>G (p.Ala778=) rs8716 0.28514
NM_001375808.2(LPIN2):c.*3C>T rs3745012 0.26634
NM_138477.4(CDAN1):c.477C>T (p.Pro159=) rs7167392 0.26335
NM_138477.4(CDAN1):c.2671C>T (p.Arg891Cys) rs8023524 0.25780
NM_138477.4(CDAN1):c.2408-3C>T rs12905385 0.24113
NM_000037.4(ANK1):c.315C>T (p.Asn105=) rs2304871 0.23757
NM_014915.3(ANKRD26):c.624A>G (p.Val208=) rs2297145 0.22780
NM_001166686.2(PFKM):c.5A>T (p.His2Leu) rs11609399 0.21767
NM_000037.4(ANK1):c.5265G>A (p.Val1755=) rs750625 0.21708
NM_000037.4(ANK1):c.2349C>T (p.Thr783=) rs2304880 0.21375
NM_000037.4(ANK1):c.2073C>T (p.Gly691=) rs1137177 0.21318
NM_014915.3(ANKRD26):c.3913G>A (p.Val1305Ile) rs10829163 0.19017
NM_014915.3(ANKRD26):c.4542T>A (p.Phe1514Leu) rs2274741 0.19016
NM_000289.6(PFKM):c.516C>T (p.Thr172=) rs1049392 0.18973
NM_000037.4(ANK1):c.4101C>T (p.Ala1367=) rs7816734 0.18067
NM_000057.4(BLM):c.3102G>A (p.Thr1034=) rs2227933 0.17570
NM_000289.6(PFKM):c.2093-14A>G rs11168427 0.16418
NM_000289.6(PFKM):c.299G>A (p.Arg100Gln) rs2228500 0.16379
NM_000057.4(BLM):c.3945C>T (p.Leu1315=) rs1063147 0.15526
NM_000057.4(BLM):c.3531C>A (p.Ala1177=) rs2227934 0.15517
NM_000175.5(GPI):c.489A>G (p.Gly163=) rs1801015 0.14862
NM_001430.5(EPAS1):c.2296A>C (p.Thr766Pro) rs59901247 0.14073
NM_001243177.4(ALDOA):c.1161+17G>T rs2071390 0.13976
NM_000132.4(F8):c.1010-27G>A rs7058826 0.13707
NM_000037.4(ANK1):c.597G>A (p.Pro199=) rs2304873 0.10581
NC_000012.12:g.6867524A>G rs1800200 0.09809
NM_000175.5(GPI):c.762G>A (p.Lys254=) rs1864139 0.09803
NM_014915.3(ANKRD26):c.3972+3A>G rs72807627 0.08792
NM_001271696.3(ABCB7):c.1739C>T (p.Ala580Val) rs1340989 0.08733
NM_000057.4(BLM):c.3961G>A (p.Val1321Ile) rs7167216 0.08093
NM_006947.4(SRP72):c.1671A>G (p.Lys557=) rs34419325 0.08059
NM_004356.4(CD81):c.597C>T (p.Ser199=) rs14077 0.07917
NM_000637.5(GSR):c.261T>C (p.Gly87=) rs2280855 0.07666
NM_005050.4(ABCD4):c.176A>G (p.Gln59Arg) rs58272575 0.07062
NM_005050.4(ABCD4):c.383C>T (p.Ala128Val) rs61744947 0.06981
NM_005050.4(ABCD4):c.1533C>T (p.Gly511=) rs57773157 0.06977
NM_001430.5(EPAS1):c.780-15T>A rs17035079 0.06797
NM_000057.4(BLM):c.2603C>T (p.Pro868Leu) rs2227935 0.06742
NM_138477.4(CDAN1):c.3153G>A (p.Glu1051=) rs28661826 0.06415
NM_005050.4(ABCD4):c.514G>A (p.Val172Ile) rs34992370 0.06330
NM_138477.4(CDAN1):c.3450+11C>T rs56046122 0.06311
NM_002693.3(POLG):c.3708G>T (p.Gln1236His) rs3087374 0.06272
NM_000289.6(PFKM):c.246G>A (p.Thr82=) rs2228501 0.06196
NM_138477.4(CDAN1):c.816C>A (p.Thr272=) rs76599133 0.06184
NM_138477.4(CDAN1):c.443C>T (p.Ala148Val) rs73410959 0.06134
NM_138477.4(CDAN1):c.558C>G (p.Pro186=) rs12594325 0.05980
NM_014915.3(ANKRD26):c.-140C>G rs41299222 0.05835
NM_052945.4(TNFRSF13C):c.62C>G (p.Pro21Arg) rs77874543 0.05538
NM_001322934.2(NFKB2):c.2467-9T>A rs11574853 0.05268
NC_000014.9:g.105855041A>G rs10287 0.05231
NM_000355.4(TCN2):c.1196G>A (p.Arg399Gln) rs4820889 0.05200
NM_152866.3(MS4A1):c.216C>T (p.Ile72=) rs2070770 0.05151
NM_001114134.2(EPB42):c.833-4A>G rs61343376 0.05117
NM_001114134.2(EPB42):c.-51T>C rs16957499 0.05107
NM_000037.4(ANK1):c.1856G>A (p.Arg619His) rs2304877 0.04842
NC_000014.9:g.105855988G>C rs113762053 0.04825
NM_000037.4(ANK1):c.450A>G (p.Val150=) rs6982971 0.04455
NM_001430.5(EPAS1):c.2353C>A (p.Pro785Thr) rs61518065 0.04391
NM_000037.4(ANK1):c.909+7A>G rs17661203 0.04301
NM_001250.6(CD40):c.606C>T (p.Phe202=) rs7273698 0.04254
NM_000037.4(ANK1):c.612+18G>C rs57815524 0.04206
NM_000037.4(ANK1):c.3486C>T (p.Ser1162=) rs35964634 0.04182
NM_018947.6(CYCS):c.-6T>G rs11267038 0.04167
NM_001250.6(CD40):c.371C>T (p.Ser124Leu) rs11569321 0.04146
NM_001770.6(CD19):c.1541G>A (p.Arg514His) rs34763945 0.04099
NM_000037.4(ANK1):c.3973A>G (p.Met1325Val) rs10093583 0.04068
NM_000637.5(GSR):c.189C>T (p.Ala63=) rs2280854 0.03974
NM_001114134.2(EPB42):c.330G>A (p.Ala110=) rs1042168 0.03903
NM_000037.4(ANK1):c.1320G>A (p.Pro440=) rs28533718 0.03824
NC_000012.12:g.6867521G>A rs1800201 0.03488
NM_006060.6(IKZF1):c.161-8328C>A rs76112582 0.03410
NM_014915.3(ANKRD26):c.1207+15A>G rs115864032 0.03406
NM_005334.3(HCFC1):c.4545G>A (p.Pro1515=) rs1051153 0.03363
NM_005334.3(HCFC1):c.2382C>A (p.Ser794=) rs1051151 0.03295
NM_001375808.2(LPIN2):c.1456+29A>G rs16944068 0.03261
NM_000037.4(ANK1):c.5395-1147C>G rs112350393 0.03054
NM_001002010.5(NT5C3A):c.139-9046T>C rs17170223 0.03046
NM_000637.5(GSR):c.457C>T (p.Arg153Cys) rs8190955 0.02941
NM_001376013.1(EPB41):c.640G>A (p.Val214Ile) rs111642750 0.02894
NM_001114134.2(EPB42):c.10+19C>T rs77809780 0.02853
NM_015506.3(MMACHC):c.178G>C (p.Asp60His) rs6662272 0.02835
NM_020070.4(IGLL1):c.549C>T (p.Pro183=) rs75088277 0.02804
NM_000365.6(TPI1):c.544-10C>G rs115061797 0.02638
NM_182972.3(IRF2BP2):c.75C>T (p.Pro25=) rs76362154 0.02638
NM_000791.4(DHFR):c.-400A>G rs2405875 0.02618
NM_001430.5(EPAS1):c.1908T>C (p.Asn636=) rs35606117 0.02613
NM_019594.4(LRRC8A):c.1509C>T (p.Thr503=) rs3750318 0.02605
NM_001364905.1(LRBA):c.6781-3C>T rs58873298 0.02593
NM_020070.4(IGLL1):c.276C>T (p.Asn92=) rs116275804 0.02588
NM_001375808.2(LPIN2):c.1168+11G>C rs79439091 0.02576
NM_000476.3(AK1):c.367G>C (p.Glu123Gln) rs8192462 0.02507
NM_001364905.1(LRBA):c.2634T>G (p.Pro878=) rs17027154 0.02479
NM_014915.3(ANKRD26):c.2978A>C (p.Glu993Ala) rs61745662 0.02396
NM_001364905.1(LRBA):c.7630+10G>C rs57901153 0.02351
NM_000037.4(ANK1):c.1782C>A (p.Ser594=) rs61753679 0.02349
NM_000365.6(TPI1):c.631+13G>A rs60115912 0.02344
NM_003998.4(NFKB1):c.1755G>A (p.Thr585=) rs4648093 0.02322
NM_138477.4(CDAN1):c.2174+20G>A rs75993383 0.02307
NM_020070.4(IGLL1):c.464C>T (p.Pro155Leu) rs145176864 0.02290
NM_014915.3(ANKRD26):c.2376-4G>A rs75445709 0.02272
NM_012092.4(ICOS):c.150A>G (p.Gln50=) rs55972840 0.02252
NM_012092.4(ICOS):c.501+7G>A rs57149344 0.02252
NM_182972.3(IRF2BP2):c.352C>T (p.Pro118Ser) rs148187914 0.02203
NM_001002010.5(NT5C3A):c.408T>C (p.Thr136=) rs72555744 0.02171
NM_138477.4(CDAN1):c.1969G>A (p.Gly657Ser) rs61747153 0.02138
NM_001250.6(CD40):c.403+20A>G rs11699100 0.02132
NM_001364905.1(LRBA):c.5989C>T (p.Arg1997Cys) rs35879351 0.02129
NM_001430.5(EPAS1):c.1035-15T>C rs116510029 0.02125
NM_001364905.1(LRBA):c.4485C>T (p.Gly1495=) rs11735845 0.02120
NM_138477.4(CDAN1):c.2948-13C>T rs117946783 0.02118
NM_000037.4(ANK1):c.4385C>T (p.Ala1462Val) rs34664882 0.02105
NM_000037.4(ANK1):c.4506C>T (p.Arg1502=) rs34265667 0.02104
NM_000175.5(GPI):c.122+20G>A rs8191360 0.02067
NM_000637.5(GSR):c.334-4dup rs112134304 0.02050
NM_020070.4(IGLL1):c.507C>T (p.Ser169=) rs74519217 0.02030
NM_000289.6(PFKM):c.1500+32C>T rs41291967 0.02028
NM_006996.3(SLC19A2):c.1215G>A (p.Thr405=) rs61049753 0.02028
NM_013314.4(BLNK):c.195C>T (p.Ser65=) rs12261820 0.01993
NM_000289.6(PFKM):c.1342-14G>T rs56117548 0.01990
NM_000289.6(PFKM):c.306C>T (p.Ala102=) rs11552507 0.01954
NM_000037.4(ANK1):c.3327+21C>G rs61207451 0.01947
NM_001364905.1(LRBA):c.2170A>G (p.Ile724Val) rs72719663 0.01896
NM_003998.4(NFKB1):c.1519A>G (p.Met507Val) rs4648072 0.01884
NM_001430.5(EPAS1):c.2511C>T (p.Pro837=) rs35795449 0.01843
NM_019594.4(LRRC8A):c.1458C>T (p.Pro486=) rs11999276 0.01838
NM_001114134.2(EPB42):c.654+7G>A rs72721553 0.01821
NM_005334.3(HCFC1):c.3568G>A (p.Gly1190Ser) rs185987427 0.01804
NM_018368.4(LMBRD1):c.980+11T>C rs114726590 0.01756
NM_000637.5(GSR):c.43A>G (p.Ser15Gly) rs144194626 0.01737
NM_014915.3(ANKRD26):c.1564+6T>C rs149655759 0.01710
NM_000476.3(AK1):c.517-18C>T rs7031929 0.01694
NM_001002010.5(NT5C3A):c.440+9A>G rs72555745 0.01691
NM_000476.3(AK1):c.186G>A (p.Glu62=) rs61742069 0.01671
NM_005334.3(HCFC1):c.4464G>A (p.Thr1488=) rs141722238 0.01632
NM_001002010.5(NT5C3A):c.91T>C (p.Phe31Leu) rs72555707 0.01571
NM_003998.4(NFKB1):c.1050C>T (p.Tyr350=) rs4648039 0.01547
NM_001114134.2(EPB42):c.1318+4C>T rs45498491 0.01529
NM_001250.6(CD40):c.679C>G (p.Pro227Ala) rs11086998 0.01523
NM_000175.5(GPI):c.948C>A (p.Ala316=) rs8191416 0.01510
NM_019594.4(LRRC8A):c.2118C>G (p.Leu706=) rs35266233 0.01461
NM_014915.3(ANKRD26):c.3384G>A (p.Lys1128=) rs41299210 0.01449
NM_000175.5(GPI):c.623T>C (p.Ile208Thr) rs8191371 0.01437
NM_000037.4(ANK1):c.3224C>T (p.Thr1075Ile) rs35213384 0.01414
NM_019594.4(LRRC8A):c.2157+11C>T rs11999754 0.01366
NM_019594.4(LRRC8A):c.1803T>C (p.Cys601=) rs16930757 0.01361
NM_014915.3(ANKRD26):c.576G>A (p.Gln192=) rs41279942 0.01351
NM_000037.4(ANK1):c.4008G>A (p.Pro1336=) rs147536061 0.01340
NM_000132.4(F8):c.*29C>T rs5986887 0.01323
NM_000355.4(TCN2):c.265T>C (p.Phe89Leu) rs35915865 0.01306
NM_000355.4(TCN2):c.65-17C>T rs77763564 0.01306
NM_000037.4(ANK1):c.654C>A (p.Asn218Lys) rs61735313 0.01280
NM_138477.4(CDAN1):c.2836C>T (p.Arg946Trp) rs114779238 0.01260
NM_001770.6(CD19):c.1486+18T>A rs150575329 0.01255
NM_013314.4(BLNK):c.526-5G>C rs17111459 0.01232
NM_000037.4(ANK1):c.2970C>T (p.Ile990=) rs34969689 0.01218
NM_138477.4(CDAN1):c.157C>T (p.Leu53=) rs186189866 0.01218
NM_000037.4(ANK1):c.2211C>G (p.Pro737=) rs34194642 0.01217
NM_000037.4(ANK1):c.183G>C (p.Val61=) rs61753680 0.01208
NM_000037.4(ANK1):c.3813G>A (p.Glu1271=) rs16890758 0.01205
NM_000365.6(TPI1):c.544-14G>A rs72661109 0.01198
NM_001250.6(CD40):c.559+36G>C rs41282788 0.01183
NM_001375808.2(LPIN2):c.2223C>T (p.Ala741=) rs17555442 0.01175
NM_052945.4(TNFRSF13C):c.229C>T (p.Leu77=) rs140820836 0.01159
NM_138477.4(CDAN1):c.1968C>T (p.Thr656=) rs61742992 0.01147
NM_000037.4(ANK1):c.2296-20C>T rs73619321 0.01143
NM_138477.4(CDAN1):c.2445C>T (p.Gly815=) rs114208791 0.01142
NM_000037.4(ANK1):c.489C>T (p.Leu163=) rs34173100 0.01106
NM_000289.6(PFKM):c.2087G>A (p.Arg696His) rs41291971 0.01088
NM_001243177.4(ALDOA):c.1200C>T (p.Ser400=) rs77290575 0.01088
NM_000132.4(F8):c.1444-22T>C rs5986899 0.01075
NM_001430.5(EPAS1):c.1833C>T (p.Ala611=) rs41281469 0.01075
NM_001322934.2(NFKB2):c.2239C>T (p.Leu747=) rs11191279 0.01026
NM_000074.3(CD40LG):c.655G>A (p.Gly219Arg) rs148594123 0.01015
NM_000637.5(GSR):c.41C>A (p.Pro14Gln) rs192256606 0.00981
NM_001376013.1(EPB41):c.2314-19G>C rs41266199 0.00973
NM_001271696.3(ABCB7):c.945-7C>T rs5937938 0.00961
NM_000791.4(DHFR):c.-416C>G rs2001675 0.00949
NM_138477.4(CDAN1):c.3194G>A (p.Arg1065Gln) rs61746356 0.00932
NM_020661.4(AICDA):c.210A>G (p.Leu70=) rs104894984 0.00916
NM_019594.4(LRRC8A):c.51C>T (p.Tyr17=) rs16930745 0.00880
NM_013314.4(BLNK):c.362-17T>C rs118063042 0.00879
NM_001375808.2(LPIN2):c.1867C>T (p.Pro623Ser) rs143090653 0.00873
NM_001002010.5(NT5C3A):c.139-4T>G rs72555736 0.00862
NM_001364905.1(LRBA):c.3689G>A (p.Gly1230Asp) rs34708681 0.00859
NM_000037.4(ANK1):c.5544+91C>T rs72638959 0.00849
NM_001376013.1(EPB41):c.1464-20T>C rs139715164 0.00835
NM_000476.3(AK1):c.102C>T (p.Tyr34=) rs61741075 0.00832
NM_001375808.2(LPIN2):c.1801G>A (p.Glu601Lys) rs61735393 0.00824
NM_001364905.1(LRBA):c.5100G>T (p.Leu1700=) rs61741557 0.00815
NM_001243177.4(ALDOA):c.542-16C>A rs78124282 0.00797
NM_001375808.2(LPIN2):c.-10+1313C>T rs116643915 0.00793
NM_001364905.1(LRBA):c.5171+20G>A rs116225517 0.00791
NM_014915.3(ANKRD26):c.3655G>A (p.Val1219Ile) rs146819984 0.00781
NM_019594.4(LRRC8A):c.774C>T (p.Asp258=) rs41275930 0.00741
NM_020070.4(IGLL1):c.512A>G (p.Asn171Ser) rs1064421 0.00740
NM_000476.3(AK1):c.484G>A (p.Ala162Thr) rs35902264 0.00726
NM_000476.3(AK1):c.8-376C>T rs116301334 0.00725
NM_004356.4(CD81):c.648+10C>T rs34510250 0.00724
NM_052945.4(TNFRSF13C):c.191G>T (p.Gly64Val) rs547352394 0.00722
NM_001376013.1(EPB41):c.2019G>A (p.Lys673=) rs79677225 0.00718
NM_001375808.2(LPIN2):c.147C>T (p.His49=) rs17886056 0.00707
NM_000559.3(HBG1):c.410C>G (p.Ala137Gly) rs56205611 0.00681
NM_000037.4(ANK1):c.1590C>T (p.Ala530=) rs61758865 0.00673
NM_000791.4(DHFR):c.-259C>T rs6151597 0.00658
NM_001376013.1(EPB41):c.24G>A (p.Val8=) rs75060926 0.00648
NM_020070.4(IGLL1):c.309G>A (p.Gln103=) rs114285337 0.00642
NM_000637.5(GSR):c.1069A>G (p.Ile357Val) rs75673983 0.00632
NM_030943.4(AMN):c.363G>A (p.Gly121=) rs141455061 0.00632
NM_080911.3(UNG):c.291C>T (p.Ser97=) rs3219210 0.00624
NM_138477.4(CDAN1):c.2700G>A (p.Gln900=) rs61745640 0.00622
NM_001114134.2(EPB42):c.1767C>A (p.His589Gln) rs114354377 0.00619
NM_000132.4(F8):c.670+31C>G rs34277626 0.00585
NM_052945.4(TNFRSF13C):c.475C>T (p.His159Tyr) rs61756766 0.00573
NM_005334.3(HCFC1):c.1445-14C>T rs184593569 0.00544
NM_030943.4(AMN):c.773T>C (p.Leu258Ser) rs190222721 0.00544
NM_000037.4(ANK1):c.1999-17C>T rs28571216 0.00543
NM_000121.4(EPOR):c.1462C>T (p.Pro488Ser) rs142094773 0.00541
NM_019594.4(LRRC8A):c.1995G>A (p.Glu665=) rs11999752 0.00533
NM_001770.6(CD19):c.381G>A (p.Ser127=) rs142342927 0.00523
NM_138477.4(CDAN1):c.1368-15G>A rs74586882 0.00523
NM_019594.4(LRRC8A):c.1371C>T (p.Pro457=) rs11999256 0.00516
NM_000037.4(ANK1):c.-204C>G rs117184692 0.00514
NM_001375808.2(LPIN2):c.590+6A>G rs73375280 0.00505
NM_001376013.1(EPB41):c.1700G>A (p.Gly567Asp) rs138888144 0.00496
NM_013314.4(BLNK):c.472G>T (p.Ala158Ser) rs148612299 0.00489
NM_138477.4(CDAN1):c.906G>A (p.Leu302=) rs61745955 0.00486
NM_001364905.1(LRBA):c.7564A>C (p.Thr2522Pro) rs62346982 0.00470
NM_001376013.1(EPB41):c.871C>T (p.Pro291Ser) rs142874233 0.00467
NM_000037.4(ANK1):c.3399C>T (p.Thr1133=) rs117516263 0.00465
NM_000476.3(AK1):c.44-16G>A rs74522986 0.00464
NM_000365.6(TPI1):c.600G>A (p.Ala200=) rs61747602 0.00452
NM_005334.3(HCFC1):c.2109G>A (p.Thr703=) rs3027888 0.00450
NM_001271696.3(ABCB7):c.201G>C (p.Gln67His) rs114142266 0.00447
NM_000057.4(BLM):c.4076+4T>G rs183176301 0.00436
NM_001322934.2(NFKB2):c.40G>A (p.Glu14Lys) rs45581936 0.00433
NM_030943.4(AMN):c.829A>G (p.Thr277Ala) rs146499374 0.00428
NM_000037.4(ANK1):c.3033C>T (p.Ser1011=) rs61758866 0.00422
NM_000037.4(ANK1):c.1506C>T (p.Ala502=) rs34387324 0.00407
NM_000081.4(LYST):c.1686G>C (p.Gln562His) rs77091385 0.00394
NM_003200.5(TCF3):c.1713G>A (p.Glu571=) rs143212973 0.00394
NM_000355.4(TCN2):c.89T>G (p.Leu30Arg) rs116605132 0.00388
NM_138477.4(CDAN1):c.2738A>T (p.Gln913Leu) rs76947588 0.00380
NM_000057.4(BLM):c.1722A>G (p.Leu574=) rs28385011 0.00379
NM_000037.4(ANK1):c.2403G>A (p.Lys801=) rs147130318 0.00376
NM_001364905.1(LRBA):c.2526T>C (p.Phe842=) rs139428189 0.00376
NM_000037.4(ANK1):c.2735+10G>A rs75296105 0.00374
NM_006996.3(SLC19A2):c.561G>T (p.Leu187=) rs150548640 0.00374
NM_025215.6(PUS1):c.397G>A (p.Asp133Asn) rs76655496 0.00371
NM_020661.4(AICDA):c.585T>C (p.Thr195=) rs78590060 0.00370
NM_001243177.4(ALDOA):c.411A>G (p.Thr137=) rs76767223 0.00362
NM_000373.4(UMPS):c.88A>G (p.Ser30Gly) rs17843776 0.00350
NM_005026.5(PIK3CD):c.2820T>C (p.His940=) rs28730679 0.00350
NM_138477.4(CDAN1):c.309G>T (p.Pro103=) rs575562332 0.00350
NM_012092.4(ICOS):c.58+9T>G rs140049646 0.00348
NM_000355.4(TCN2):c.877C>T (p.Leu293=) rs45624233 0.00347
NM_000057.4(BLM):c.893C>T (p.Thr298Met) rs28384991 0.00346
NM_138477.4(CDAN1):c.237G>C (p.Ser79=) rs180857061 0.00344
NC_000012.12:g.6867505T>G rs1800202 0.00329
NM_020661.4(AICDA):c.267C>T (p.Asp89=) rs74334270 0.00326
NM_019594.4(LRRC8A):c.1699G>A (p.Val567Met) rs143836544 0.00321
NM_138477.4(CDAN1):c.2263-5G>A rs190802841 0.00311
NM_001002010.5(NT5C3A):c.861G>A (p.Glu287=) rs72555746 0.00310
NM_138477.4(CDAN1):c.3666T>C (p.Thr1222=) rs77191722 0.00309
NM_000037.4(ANK1):c.5544+46G>A rs114905632 0.00304
NM_006996.3(SLC19A2):c.1080T>C (p.Thr360=) rs3737682 0.00297
NM_138477.4(CDAN1):c.1967C>G (p.Thr656Ser) rs139202766 0.00296
NM_020661.4(AICDA):c.74G>A (p.Arg25His) rs61730095 0.00289
NM_001322934.2(NFKB2):c.21+13G>A rs199513883 0.00288
NM_138477.4(CDAN1):c.2067G>A (p.Ala689=) rs147161012 0.00288
NM_001114134.2(EPB42):c.1279C>T (p.Arg427Cys) rs45594632 0.00285
NM_003200.5(TCF3):c.1154G>A (p.Gly385Asp) rs117006898 0.00282
NM_000057.4(BLM):c.1928G>A (p.Arg643His) rs12720097 0.00278
NM_001364905.1(LRBA):c.6448+17A>G rs183652080 0.00274
NM_001114134.2(EPB42):c.256G>T (p.Asp86Tyr) rs113768282 0.00268
NM_005026.5(PIK3CD):c.1809G>C (p.Leu603=) rs151278626 0.00268
NM_000037.4(ANK1):c.5097-34C>T rs185434561 0.00261
NM_052945.4(TNFRSF13C):c.60C>T (p.Val20=) rs373828157 0.00260
NM_001243177.4(ALDOA):c.1201G>A (p.Gly401Ser) rs138824667 0.00256
NM_000037.4(ANK1):c.981C>T (p.Tyr327=) rs61758867 0.00253
NM_001375808.2(LPIN2):c.1510C>T (p.Leu504Phe) rs104895500 0.00253
NM_000057.4(BLM):c.3613G>A (p.Val1205Ile) rs28385141 0.00245
NM_000289.6(PFKM):c.1338G>A (p.Gly446=) rs150378513 0.00243
NM_000289.6(PFKM):c.1339C>A (p.Gln447Lys) rs145040928 0.00243
NM_025215.6(PUS1):c.1214C>T (p.Thr405Met) rs149378338 0.00233
NM_012092.4(ICOS):c.451G>C (p.Val151Leu) rs76778263 0.00226
NM_001114134.2(EPB42):c.894C>T (p.Thr298=) rs35719500 0.00225
NM_001364905.1(LRBA):c.1399A>G (p.Met467Val) rs116355217 0.00225
NM_001322934.2(NFKB2):c.1962C>T (p.Val654=) rs201623844 0.00221
NM_001375808.2(LPIN2):c.1735T>C (p.Ser579Pro) rs150022314 0.00221
NM_014915.3(ANKRD26):c.2679A>G (p.Gln893=) rs61730098 0.00215
NM_138477.4(CDAN1):c.3450+17A>G rs141626745 0.00210
NM_000037.4(ANK1):c.*8C>A rs146341756 0.00209
NM_003998.4(NFKB1):c.1845G>T (p.Leu615Phe) rs149211506 0.00208
NM_000132.4(F8):c.2947G>A (p.Val983Ile) rs35295375 0.00205
NM_001114134.2(EPB42):c.453T>C (p.Asn151=) rs114136713 0.00205
NM_000289.6(PFKM):c.2199-12A>G rs202008060 0.00204
NM_001243177.4(ALDOA):c.274+4C>T rs200278984 0.00204
NM_138477.4(CDAN1):c.2463G>A (p.Gly821=) rs139809959 0.00204
NM_000175.5(GPI):c.907A>C (p.Met303Leu) rs143733383 0.00202
NM_052945.4(TNFRSF13C):c.317G>A (p.Arg106Gln) rs150374940 0.00202
NC_000012.12:g.6867486C>T rs781949460 0.00200
NM_032043.3(BRIP1):c.584T>C (p.Leu195Pro) rs4988347 0.00197
NM_000289.6(PFKM):c.702A>T (p.Pro234=) rs138022863 0.00185
NM_000037.4(ANK1):c.2197-17G>A rs188360816 0.00183
NM_000289.6(PFKM):c.1500+29C>T rs138256599 0.00183
NM_001114134.2(EPB42):c.741C>A (p.Gly247=) rs115626075 0.00182
NM_001375808.2(LPIN2):c.-10+1381T>C rs566304730 0.00176
NM_000037.4(ANK1):c.2830G>A (p.Ala944Thr) rs35797405 0.00170
NM_006996.3(SLC19A2):c.1322T>C (p.Ile441Thr) rs17847484 0.00169
NM_080911.3(UNG):c.533+6G>A rs55812333 0.00163
NM_000355.4(TCN2):c.280G>A (p.Gly94Ser) rs11557600 0.00162
NM_000476.3(AK1):c.325-9C>T rs145431113 0.00160
NM_001375808.2(LPIN2):c.1410C>T (p.Thr470=) rs35932462 0.00159
NM_001114134.2(EPB42):c.430+12C>T rs185794093 0.00155
NM_138477.4(CDAN1):c.386G>A (p.Arg129His) rs12441516 0.00155
NM_000037.4(ANK1):c.2495G>A (p.Arg832Gln) rs34523608 0.00150
NM_000037.4(ANK1):c.2745G>A (p.Val915=) rs143585080 0.00150
NM_000355.4(TCN2):c.138C>T (p.Ser46=) rs143250551 0.00148
NM_052945.4(TNFRSF13C):c.102C>T (p.Ala34=) rs567541615 0.00147
NM_001375808.2(LPIN2):c.991G>T (p.Ala331Ser) rs80338805 0.00142
NC_000019.10:g.34364916G>A rs549433538 0.00139
NM_000037.4(ANK1):c.5395-1162C>A rs145094714 0.00138
NM_000037.4(ANK1):c.5479-17T>C rs142836307 0.00138
NM_000355.4(TCN2):c.296A>C (p.Lys99Thr) rs150225103 0.00135
NM_000355.4(TCN2):c.428-4T>C rs201408393 0.00134
NM_001114134.2(EPB42):c.1672G>A (p.Glu558Lys) rs75424023 0.00133
NM_001364905.1(LRBA):c.4591T>G (p.Phe1531Val) rs114610541 0.00131
NM_138477.4(CDAN1):c.2735C>T (p.Ala912Val) rs143086237 0.00130
NM_000132.4(F8):c.4333T>C (p.Ser1445Pro) rs146153504 0.00129
NM_001322934.2(NFKB2):c.2145G>A (p.Ser715=) rs200006038 0.00128
NM_001364905.1(LRBA):c.2340A>G (p.Thr780=) rs79392371 0.00127
NM_001783.4(CD79A):c.419C>A (p.Thr140Asn) rs148797987 0.00126
NM_001322934.2(NFKB2):c.1288C>T (p.Pro430Ser) rs202001697 0.00125
NM_001243177.4(ALDOA):c.648C>G (p.Leu216=) rs112110009 0.00124
NM_000175.5(GPI):c.987C>T (p.Asn329=) rs140676743 0.00123
NM_138477.4(CDAN1):c.2164C>T (p.Arg722Cys) rs140014115 0.00123
NM_000037.4(ANK1):c.3532+13C>A rs181905023 0.00122
NM_000037.4(ANK1):c.4606C>T (p.Arg1536Cys) rs146416859 0.00121
NM_000037.4(ANK1):c.2826G>A (p.Thr942=) rs7002295 0.00119
NM_000037.4(ANK1):c.997G>A (p.Asp333Asn) rs147608206 0.00119
NM_001114134.2(EPB42):c.10+79G>A rs149249456 0.00119
NM_005026.5(PIK3CD):c.2919C>T (p.Leu973=) rs143168081 0.00114
NM_001002010.5(NT5C3A):c.325A>C (p.Lys109Gln) rs144452782 0.00113
NM_001114134.2(EPB42):c.1609G>A (p.Ala537Thr) rs45495503 0.00107
NM_020070.4(IGLL1):c.616A>T (p.Thr206Ser) rs139491925 0.00106
NM_000365.6(TPI1):c.321T>C (p.Asp107=) rs141972556 0.00104
NM_032609.3(COX4I2):c.88G>C (p.Gly30Arg) rs148327783 0.00103
NM_019594.4(LRRC8A):c.1606G>A (p.Val536Ile) rs138622041 0.00102
NM_000037.4(ANK1):c.3102C>T (p.Asn1034=) rs145169484 0.00101
NM_020070.4(IGLL1):c.437C>T (p.Thr146Met) rs112775194 0.00100
NM_000037.4(ANK1):c.2132A>G (p.Tyr711Cys) rs139375455 0.00093
NM_001770.6(CD19):c.395T>G (p.Leu132Arg) rs146795664 0.00093
NM_080911.3(UNG):c.262C>T (p.Arg88Cys) rs151095402 0.00090
NM_001376013.1(EPB41):c.120A>G (p.Gln40=) rs146663694 0.00086
NM_001375808.2(LPIN2):c.1159A>G (p.Lys387Glu) rs104895501 0.00083
NM_001375808.2(LPIN2):c.1876C>T (p.Pro626Ser) rs150806357 0.00083
NM_006996.3(SLC19A2):c.824G>T (p.Arg275Leu) rs61734338 0.00083
NM_000365.6(TPI1):c.366C>T (p.Leu122=) rs138131191 0.00081
NM_001430.5(EPAS1):c.1104G>A (p.Met368Ile) rs61757375 0.00078
NM_138477.4(CDAN1):c.2662G>C (p.Asp888His) rs150657573 0.00076
NM_001114134.2(EPB42):c.10+60C>T rs144428415 0.00070
NM_000037.4(ANK1):c.2844C>T (p.Arg948=) rs7001141 0.00069
NM_000037.4(ANK1):c.1153C>T (p.Arg385Cys) rs142626656 0.00067
NM_000037.4(ANK1):c.1404+15C>T rs201598401 0.00067
NM_000365.6(TPI1):c.448G>T (p.Val150Phe) rs150585849 0.00067
NM_000037.4(ANK1):c.2196+6G>A rs200761553 0.00064
NM_001322934.2(NFKB2):c.921G>A (p.Leu307=) rs146926941 0.00064
NM_000037.4(ANK1):c.4022C>T (p.Ser1341Leu) rs145562489 0.00063
NM_138477.4(CDAN1):c.2743T>C (p.Leu915=) rs149472555 0.00061
NM_000037.4(ANK1):c.1467G>A (p.Leu489=) rs148165519 0.00057
NM_000037.4(ANK1):c.1483A>C (p.Asn495His) rs143839208 0.00057
NM_138477.4(CDAN1):c.1649T>C (p.Met550Thr) rs201599639 0.00055
NM_138477.4(CDAN1):c.1705G>C (p.Gly569Arg) rs201079951 0.00055
NM_001375808.2(LPIN2):c.1043C>T (p.Pro348Leu) rs34676691 0.00051
NM_138477.4(CDAN1):c.1860+5G>A rs113313967 0.00051
NM_000132.4(F8):c.5430T>G (p.Ser1810=) rs142177821 0.00050
NM_001114134.2(EPB42):c.1387G>A (p.Gly463Ser) rs148871144 0.00048
NM_001114134.2(EPB42):c.1602G>A (p.Thr534=) rs149742998 0.00048
NM_001375808.2(LPIN2):c.2568C>T (p.Leu856=) rs149862905 0.00045
NM_001114134.2(EPB42):c.953G>T (p.Gly318Val) rs143974871 0.00044
NM_000037.4(ANK1):c.4448T>G (p.Leu1483Arg) rs141408004 0.00043
NM_001114134.2(EPB42):c.2032A>G (p.Asn678Asp) rs201674874 0.00042
NM_006996.3(SLC19A2):c.1093A>T (p.Thr365Ser) rs150049339 0.00041
NM_000037.4(ANK1):c.2167C>A (p.His723Asn) rs150899388 0.00039
NM_000132.4(F8):c.6115+27C>T rs375609267 0.00039
NM_003200.5(TCF3):c.136G>A (p.Gly46Arg) rs143529809 0.00039
NM_001375808.2(LPIN2):c.446C>T (p.Pro149Leu) rs147615538 0.00038
NM_005026.5(PIK3CD):c.2094C>T (p.Phe698=) rs370548772 0.00036
NM_138477.4(CDAN1):c.2360C>T (p.Ala787Val) rs138839403 0.00035
NM_000037.4(ANK1):c.5395-1057C>T rs372282334 0.00034
NM_001364905.1(LRBA):c.3751A>G (p.Thr1251Ala) rs143973442 0.00034
NM_000037.4(ANK1):c.3668T>C (p.Val1223Ala) rs185516533 0.00033
NM_138477.4(CDAN1):c.3556G>A (p.Gly1186Arg) rs371901013 0.00033
NM_138477.4(CDAN1):c.3204+5G>A rs201125492 0.00030
NM_000175.5(GPI):c.317G>A (p.Arg106Gln) rs143827313 0.00029
NM_005026.5(PIK3CD):c.3024G>A (p.Glu1008=) rs146664456 0.00026
NM_000037.4(ANK1):c.447G>T (p.Ala149=) rs140550365 0.00025
NM_001375808.2(LPIN2):c.1781C>T (p.Pro594Leu) rs139826951 0.00025
NM_001375808.2(LPIN2):c.2610C>T (p.Ser870=) rs145412418 0.00025
NM_001375808.2(LPIN2):c.2625G>A (p.Pro875=) rs187572602 0.00025
NM_000132.4(F8):c.601+17G>A rs200951849 0.00024
NM_138477.4(CDAN1):c.2869-5C>T rs370304543 0.00024
NM_000037.4(ANK1):c.3298G>A (p.Val1100Ile) rs147741842 0.00023
NM_000175.5(GPI):c.1497C>T (p.Phe499=) rs138799755 0.00023
NM_138477.4(CDAN1):c.188G>A (p.Arg63His) rs772157159 0.00023
NM_000037.4(ANK1):c.3229G>C (p.Gly1077Arg) rs200263785 0.00022
NM_000132.4(F8):c.190G>A (p.Val64Met) rs187738612 0.00022
NM_001243177.4(ALDOA):c.973C>T (p.Leu325=) rs111252736 0.00022
NM_000037.4(ANK1):c.499G>C (p.Gly167Arg) rs201024919 0.00021
NM_000132.4(F8):c.1866T>C (p.Leu622=) rs1800290 0.00021
NM_000289.6(PFKM):c.459C>T (p.Ser153=) rs145519821 0.00021
NM_001375808.2(LPIN2):c.2445T>C (p.Asp815=) rs140249737 0.00021
NM_138477.4(CDAN1):c.2016G>A (p.Pro672=) rs371799686 0.00021
NM_000289.6(PFKM):c.52A>G (p.Ile18Val) rs150405056 0.00020
NM_001002010.5(NT5C3A):c.139-9025G>T rs149839373 0.00020
NM_001142446.2(ANK1):c.127-39556C>T rs907195146 0.00020
NM_000037.4(ANK1):c.3955C>T (p.Arg1319Trp) rs113948846 0.00019
NM_000037.4(ANK1):c.4099G>A (p.Ala1367Thr) rs148620640 0.00019
NM_000132.4(F8):c.6276G>A (p.Val2092=) rs199522131 0.00019
NM_000365.6(TPI1):c.116-12T>C rs369077745 0.00019
NM_000175.5(GPI):c.1270-9G>A rs191051353 0.00018
NM_001375808.2(LPIN2):c.2328-13A>T rs199830303 0.00017
NM_001375808.2(LPIN2):c.1793+17C>T rs188429587 0.00016
NM_000132.4(F8):c.3399A>G (p.Gly1133=) rs200042130 0.00015
NM_001364905.1(LRBA):c.3423C>T (p.Ala1141=) rs141442145 0.00015
NM_001376013.1(EPB41):c.2229C>T (p.Ala743=) rs117306261 0.00015
NM_000037.4(ANK1):c.5614C>T (p.Arg1872Trp) rs145235970 0.00014
NM_000637.5(GSR):c.1500G>A (p.Thr500=) rs368833049 0.00014
NM_001114134.2(EPB42):c.1779+7A>G rs200770579 0.00014
NM_001322934.2(NFKB2):c.243+20G>C rs371813362 0.00014
NM_001770.6(CD19):c.390T>A (p.Gly130=) rs573154781 0.00014
NM_001002010.5(NT5C3A):c.354+6C>A rs572060959 0.00013
NM_001375808.2(LPIN2):c.698C>T (p.Thr233Ile) rs139654849 0.00013
NM_032043.3(BRIP1):c.3099T>C (p.Pro1033=) rs202228407 0.00013
NM_138477.2(CDAN1):c.2015C>T (p.Pro672Leu) rs120074167 0.00013
NM_152866.3(MS4A1):c.194C>T (p.Ala65Val) rs146626926 0.00013
NM_000289.6(PFKM):c.139C>T (p.Arg47Cys) rs774921979 0.00012
NM_001375808.2(LPIN2):c.2535A>C (p.Gly845=) rs186864136 0.00012
NM_000289.6(PFKM):c.1925A>G (p.Asn642Ser) rs141550921 0.00011
NM_001002010.5(NT5C3A):c.406A>G (p.Thr136Ala) rs141651499 0.00011
NM_001114134.2(EPB42):c.1058C>T (p.Ala353Val) rs555199291 0.00011
NM_001375808.2(LPIN2):c.2088-7T>G rs199713353 0.00011
NM_000365.6(TPI1):c.-11G>A rs199634350 0.00010
NM_001376013.1(EPB41):c.1187A>G (p.Tyr396Cys) rs201227668 0.00010
NM_015506.3(MMACHC):c.641G>A (p.Arg214His) rs202189863 0.00010
NM_138477.4(CDAN1):c.2007+10C>T rs372645598 0.00010
NM_000037.4(ANK1):c.1926C>T (p.Ala642=) rs534680895 0.00009
NM_000037.4(ANK1):c.4136C>T (p.Pro1379Leu) rs748160803 0.00009
NM_000132.4(F8):c.1666G>A (p.Val556Ile) rs372867215 0.00009
NM_000132.4(F8):c.6696A>G (p.Gln2232=) rs201870876 0.00009
NM_000289.6(PFKM):c.1501-15C>T rs756212415 0.00008
NM_001114134.2(EPB42):c.1124C>T (p.Thr375Met) rs115972761 0.00008
NM_003200.5(TCF3):c.23C>T (p.Ala8Val) rs376780559 0.00008
NM_001375808.2(LPIN2):c.591-20C>G rs370548322 0.00007
NM_000037.4(ANK1):c.4538-6A>G rs776186305 0.00006
NM_000037.4(ANK1):c.5051C>T (p.Thr1684Ile) rs376601712 0.00006
NM_000132.4(F8):c.5604A>T (p.Ser1868=) rs782028903 0.00006
NM_000175.5(GPI):c.1325C>T (p.Thr442Met) rs758328180 0.00006
NM_000289.6(PFKM):c.237+1G>A rs202143236 0.00006
NM_000289.6(PFKM):c.857G>A (p.Arg286His) rs768496070 0.00006
NM_000559.3(HBG1):c.364G>A (p.Glu122Lys) rs33963857 0.00006
NM_000637.5(GSR):c.1334C>T (p.Thr445Met) rs778165636 0.00006
NM_001114134.2(EPB42):c.1007G>A (p.Arg336Gln) rs374503872 0.00006
NM_001364905.1(LRBA):c.4416G>A (p.Leu1472=) rs746401908 0.00006
NM_001375808.2(LPIN2):c.1888G>A (p.Gly630Ser) rs148607670 0.00006
NM_001375808.2(LPIN2):c.608C>T (p.Ser203Phe) rs144555528 0.00006
NM_001375808.2(LPIN2):c.858G>A (p.Arg286=) rs548077620 0.00006
NM_005026.5(PIK3CD):c.2320G>A (p.Val774Met) rs370932461 0.00006
NM_032609.3(COX4I2):c.408G>A (p.Thr136=) rs375116097 0.00006
NM_138477.4(CDAN1):c.3316G>A (p.Glu1106Lys) rs551196529 0.00006
NM_182972.3(IRF2BP2):c.1180A>C (p.Thr394Pro) rs138385624 0.00006
NM_000037.4(ANK1):c.1197G>A (p.Ala399=) rs756075877 0.00005
NM_000132.4(F8):c.748A>G (p.Met250Val) rs781943293 0.00005
NM_000289.6(PFKM):c.1212T>C (p.Ala404=) rs1203272613 0.00005
NM_001364905.1(LRBA):c.1219T>C (p.Leu407=) rs190586278 0.00005
NM_001375808.2(LPIN2):c.1939-14T>C rs370284164 0.00005
NM_001376013.1(EPB41):c.2047G>C (p.Ala683Pro) rs199764020 0.00005
NM_138477.4(CDAN1):c.114G>A (p.Ala38=) rs560030704 0.00005
NM_000037.4(ANK1):c.1800+3A>T rs559020131 0.00004
NM_000037.4(ANK1):c.2688C>T (p.Thr896=) rs377333429 0.00004
NM_000037.4(ANK1):c.5600C>T (p.Ala1867Val) rs767580738 0.00004
NM_000132.4(F8):c.3376A>T (p.Arg1126Trp) rs199630813 0.00004
NM_000132.4(F8):c.4045A>G (p.Arg1349Gly) rs937701134 0.00004
NM_000132.4(F8):c.5009C>T (p.Thr1670Ile) rs200396298 0.00004
NM_000175.5(GPI):c.1039C>T (p.Arg347Cys) rs758132799 0.00004
NM_000175.5(GPI):c.286C>T (p.Arg96Ter) rs781245249 0.00004
NM_000211.5(ITGB2):c.221C>T (p.Ala74Val) rs201354221 0.00004
NM_000289.6(PFKM):c.1063-18G>A rs531023136 0.00004
NM_000365.6(TPI1):c.690C>T (p.Phe230=) rs782267337 0.00004
NM_000559.2(HBG1):c.16G>A (p.Glu6Lys) rs34427034 0.00004
NM_000559.3(HBG1):c.377A>C (p.Glu126Ala) rs770330940 0.00004
NM_000637.5(GSR):c.859G>A (p.Val287Met) rs750862066 0.00004
NM_001081.4(CUBN):c.1719A>T (p.Leu573Phe) rs148313915 0.00004
NM_001114134.2(EPB42):c.1288G>A (p.Asp430Asn) rs374417752 0.00004
NM_001375808.2(LPIN2):c.1122A>G (p.Ser374=) rs748347465 0.00004
NM_001375808.2(LPIN2):c.1281C>T (p.Pro427=) rs778559792 0.00004
NM_001375808.2(LPIN2):c.1456+4C>G rs373685201 0.00004
NM_001375808.2(LPIN2):c.1797G>A (p.Pro599=) rs772568696 0.00004
NM_001376013.1(EPB41):c.1670G>A (p.Arg557Gln) rs201952060 0.00004
NM_001376013.1(EPB41):c.2184+36G>A rs760095510 0.00004
NM_032043.3(BRIP1):c.1626C>T (p.Ser542=) rs373709958 0.00004
NM_138477.4(CDAN1):c.2577G>A (p.Pro859=) rs368274213 0.00004
NM_138477.4(CDAN1):c.3046G>A (p.Ala1016Thr) rs369116219 0.00004
NM_138477.4(CDAN1):c.527A>T (p.Glu176Val) rs373153188 0.00004
NC_000014.9:g.105854900G>T rs373184157 0.00003
NM_000037.4(ANK1):c.1305+21G>A rs1432243965 0.00003
NM_000037.4(ANK1):c.3770G>A (p.Arg1257His) rs777970142 0.00003
NM_000037.4(ANK1):c.639G>A (p.Ala213=) rs766500460 0.00003
NM_000132.4(F8):c.5950G>C (p.Val1984Leu) rs782504844 0.00003
NM_000175.5(GPI):c.-9A>G rs552574934 0.00003
NM_000637.5(GSR):c.242G>A (p.Arg81His) rs767823911 0.00003
NM_001375808.2(LPIN2):c.1151C>T (p.Ser384Leu) rs765616457 0.00003
NM_001375808.2(LPIN2):c.2316C>T (p.Ser772=) rs145270447 0.00003
NM_138477.4(CDAN1):c.1826A>G (p.Asn609Ser) rs770414676 0.00003
NM_138477.4(CDAN1):c.3261C>G (p.Ser1087=) rs371567068 0.00003
NM_000037.4(ANK1):c.2352C>T (p.Asp784=) rs751238125 0.00002
NM_000037.4(ANK1):c.3601G>A (p.Ala1201Thr) rs139513895 0.00002
NM_000132.4(F8):c.5123G>A (p.Arg1708His) rs111033614 0.00002
NM_000132.4(F8):c.6544C>T (p.Arg2182Cys) rs137852467 0.00002
NM_000355.4(TCN2):c.753+5G>A rs749028271 0.00002
NM_000365.6(TPI1):c.543+5C>G rs782153322 0.00002
NM_001002010.5(NT5C3A):c.395A>T (p.Asp132Val) rs104894025 0.00002
NM_001002010.5(NT5C3A):c.577C>A (p.Pro193Thr) rs780736989 0.00002
NM_001114134.2(EPB42):c.1041G>T (p.Gln347His) rs574359460 0.00002
NM_001114134.2(EPB42):c.637C>T (p.Arg213Cys) rs115660852 0.00002
NM_001375808.2(LPIN2):c.1487A>G (p.His496Arg) rs759229367 0.00002
NM_001375808.2(LPIN2):c.1616C>G (p.Pro539Arg) rs139768435 0.00002
NM_138477.4(CDAN1):c.2750T>G (p.Ile917Ser) rs529452785 0.00002
NM_138477.4(CDAN1):c.845G>A (p.Arg282Gln) rs777323929 0.00002
NC_000012.12:g.48107374A>G rs755094329 0.00001
NM_000037.4(ANK1):c.1117A>T (p.Thr373Ser) rs779654741 0.00001
NM_000037.4(ANK1):c.1265A>T (p.Asn422Ile) rs768063027 0.00001
NM_000037.4(ANK1):c.1602+18G>A rs764064612 0.00001
NM_000037.4(ANK1):c.237C>T (p.Asn79=) rs372696694 0.00001
NM_000037.4(ANK1):c.2899G>A (p.Glu967Lys) rs770345014 0.00001
NM_000037.4(ANK1):c.4023G>A (p.Ser1341=) rs371816885 0.00001
NM_000037.4(ANK1):c.4153C>T (p.Arg1385Ter) rs750820522 0.00001
NM_000037.4(ANK1):c.4462C>T (p.Arg1488Ter) rs777701149 0.00001
NM_000037.4(ANK1):c.5395-1080C>T rs143349452 0.00001
NM_000037.4(ANK1):c.5395-1157A>T rs1204104038 0.00001
NM_000037.4(ANK1):c.5598G>A (p.Gly1866=) rs775251229 0.00001
NM_000037.4(ANK1):c.649G>A (p.Glu217Lys) rs886062942 0.00001
NM_000037.4(ANK1):c.947A>G (p.Asp316Gly) rs760321571 0.00001
NM_000121.4(EPOR):c.215T>C (p.Val72Ala) rs780617943 0.00001
NM_000132.4(F8):c.1063C>T (p.Arg355Ter) rs137852368 0.00001
NM_000132.4(F8):c.1231G>A (p.Asp411Asn) rs1324147584 0.00001
NM_000132.4(F8):c.144-13T>G rs782248521 0.00001
NM_000132.4(F8):c.1573G>A (p.Gly525Arg) rs1357976820 0.00001
NM_000132.4(F8):c.2243A>G (p.Tyr748Cys) rs1160871723 0.00001
NM_000132.4(F8):c.5122C>T (p.Arg1708Cys) rs111033613 0.00001
NM_000132.4(F8):c.6304G>A (p.Gly2102Ser) rs200433372 0.00001
NM_000132.4(F8):c.6323C>T (p.Ala2108Val) rs782094982 0.00001
NM_000132.4(F8):c.6371A>G (p.Tyr2124Cys) rs137852459 0.00001
NM_000132.4(F8):c.6622C>G (p.Gln2208Glu) rs1472169963 0.00001
NM_000132.4(F8):c.6849C>T (p.Ser2283=) rs1319284046 0.00001
NM_000132.4(F8):c.6932C>A (p.Pro2311His) rs1047644991 0.00001
NM_000132.4(F8):c.6967C>T (p.Arg2323Cys) rs137852473 0.00001
NM_000132.4(F8):c.6977G>A (p.Arg2326Gln) rs137852360 0.00001
NM_000175.5(GPI):c.1009G>A (p.Ala337Thr) rs1238884216 0.00001
NM_000175.5(GPI):c.475G>A (p.Gly159Ser) rs137853582 0.00001
NM_000175.5(GPI):c.572A>G (p.His191Arg) rs758281551 0.00001
NM_000289.6(PFKM):c.2126G>A (p.Cys709Tyr) rs373055147 0.00001
NM_000289.6(PFKM):c.888G>A (p.Leu296=) rs753083173 0.00001
NM_000476.3(AK1):c.90G>T (p.Gln30His) rs141933637 0.00001
NM_000637.5(GSR):c.307G>A (p.Val103Met) rs745404470 0.00001
NM_001114134.2(EPB42):c.1532T>C (p.Ile511Thr) rs1190513717 0.00001
NM_001114134.2(EPB42):c.890G>T (p.Gly297Val) rs1292537932 0.00001
NM_001243177.4(ALDOA):c.322G>A (p.Glu108Lys) rs199852002 0.00001
NM_001375808.2(LPIN2):c.1144G>A (p.Val382Ile) rs1486044509 0.00001
NM_001375808.2(LPIN2):c.2443-4G>A rs374426227 0.00001
NM_001375808.2(LPIN2):c.2546C>T (p.Ser849Leu) rs1467998402 0.00001
NM_001375808.2(LPIN2):c.847C>T (p.His283Tyr) rs200426834 0.00001
NM_001376013.1(EPB41):c.2021G>A (p.Ser674Asn) rs1302220038 0.00001
NM_001754.5(RUNX1):c.1396A>T (p.Met466Leu) rs762213305 0.00001
NM_005334.3(HCFC1):c.3943A>C (p.Arg1315=) rs782766895 0.00001
NM_032043.3(BRIP1):c.1754C>A (p.Ala585Glu) rs756946068 0.00001
NM_032043.3(BRIP1):c.1873T>C (p.Ser625Pro) rs935011040 0.00001
NM_138477.4(CDAN1):c.2869-4G>A rs749321986 0.00001
NM_138477.4(CDAN1):c.2937C>T (p.Ala979=) rs781767396 0.00001
NC_000012.12:g.48107385C>T
NC_000014.9:g.105855203G>A
NC_000014.9:g.105856156C>T rs201981439
NM_000037.4(ANK1):c.1124T>G (p.Leu375Ter) rs2150641057
NM_000037.4(ANK1):c.1135del (p.Cys379fs) rs2150641017
NM_000037.4(ANK1):c.1207-6T>C
NM_000037.4(ANK1):c.1277G>A (p.Arg426Gln) rs776721065
NM_000037.4(ANK1):c.1438del (p.Ile480fs)
NM_000037.4(ANK1):c.1519dup (p.Leu507fs) rs397514029
NM_000037.4(ANK1):c.1657G>T (p.Glu553Ter)
NM_000037.4(ANK1):c.1659G>A (p.Glu553=)
NM_000037.4(ANK1):c.1702-2A>G rs1554567249
NM_000037.4(ANK1):c.1702-3_1710del rs1826992833
NM_000037.4(ANK1):c.1771C>G (p.Arg591Gly) rs754903343
NM_000037.4(ANK1):c.1800+1del
NM_000037.4(ANK1):c.1801-17G>A rs786205243
NM_000037.4(ANK1):c.1891G>T (p.Glu631Ter) rs1825406258
NM_000037.4(ANK1):c.1998+5G>A rs946534987
NM_000037.4(ANK1):c.2029C>T (p.Gln677Ter) rs1563502820
NM_000037.4(ANK1):c.2102del (p.Gly701fs) rs2150612978
NM_000037.4(ANK1):c.2164C>T (p.Gln722Ter) rs747701761
NM_000037.4(ANK1):c.2258T>C (p.Leu753Pro) rs1823867456
NM_000037.4(ANK1):c.2294C>T (p.Ser765Leu)
NM_000037.4(ANK1):c.2296-2A>C
NM_000037.4(ANK1):c.2296-2A>G
NM_000037.4(ANK1):c.2389-1G>A rs1822828039
NM_000037.4(ANK1):c.2395A>C (p.Ser799Arg)
NM_000037.4(ANK1):c.2461+20C>T
NM_000037.4(ANK1):c.2508T>A (p.Asp836Glu) rs776018872
NM_000037.4(ANK1):c.2637G>A (p.Gln879=)
NM_000037.4(ANK1):c.265G>A (p.Gly89Arg)
NM_000037.4(ANK1):c.2803C>T (p.Arg935Ter) rs2150597061
NM_000037.4(ANK1):c.2810T>C (p.Val937Ala) rs1586181590
NM_000037.4(ANK1):c.2913G>C (p.Leu971=) rs504574
NM_000037.4(ANK1):c.2972T>G (p.Val991Gly) rs1820556702
NM_000037.4(ANK1):c.3092_3095del (p.Gln1031fs) rs1820512673
NM_000037.4(ANK1):c.3115+18C>T
NM_000037.4(ANK1):c.3115+9G>A rs150850103
NM_000037.4(ANK1):c.3178C>A (p.Pro1060Thr)
NM_000037.4(ANK1):c.3179C>T (p.Pro1060Leu) rs267601925
NM_000037.4(ANK1):c.3202C>T (p.Arg1068Trp) rs1820329178
NM_000037.4(ANK1):c.325C>T (p.Gln109Ter)
NM_000037.4(ANK1):c.3275del (p.Gln1092fs) rs2150593275
NM_000037.4(ANK1):c.327G>A (p.Gln109=)
NM_000037.4(ANK1):c.3327+19G>T rs200871595
NM_000037.4(ANK1):c.3342G>A (p.Pro1114=) rs374102892
NM_000037.4(ANK1):c.344T>C (p.Leu115Pro) rs1586505238
NM_000037.4(ANK1):c.3553T>G (p.Trp1185Gly)
NM_000037.4(ANK1):c.3555G>A (p.Trp1185Ter) rs1586145051
NM_000037.4(ANK1):c.356C>G (p.Ala119Gly) rs2150661855
NM_000037.4(ANK1):c.3717G>A (p.Met1239Ile) rs1819636555
NM_000037.4(ANK1):c.3829G>A (p.Val1277Met) rs148942046
NM_000037.4(ANK1):c.3858+4A>G
NM_000037.4(ANK1):c.3984+10C>T
NM_000037.4(ANK1):c.3984+1G>T
NM_000037.4(ANK1):c.3984+2T>C rs1818974494
NM_000037.4(ANK1):c.409C>T (p.Gln137Ter) rs2150661792
NM_000037.4(ANK1):c.427-2A>G
NM_000037.4(ANK1):c.4306C>T (p.Arg1436Ter) rs1586072383
NM_000037.4(ANK1):c.4391-18T>C
NM_000037.4(ANK1):c.455T>C (p.Leu152Pro)
NM_000037.4(ANK1):c.4974C>T (p.Asp1658=) rs149859024
NM_000037.4(ANK1):c.5233G>A (p.Gly1745Ser)
NM_000037.4(ANK1):c.5298del (p.Glu1767fs)
NM_000037.4(ANK1):c.5395-1286C>T
NM_000037.4(ANK1):c.5436_5437insCAGGG (p.Glu1813fs) rs2150548107
NM_000037.4(ANK1):c.5530C>T (p.Gln1844Ter)
NM_000037.4(ANK1):c.659A>G (p.Asn220Ser)
NM_000037.4(ANK1):c.758T>G (p.Ile253Ser) rs770333748
NM_000037.4(ANK1):c.813C>T (p.Asp271=)
NM_000037.4(ANK1):c.830A>C (p.His277Pro) rs1829714663
NM_000037.4(ANK1):c.841C>T (p.Arg281Ter) rs1829712320
NM_000037.4(ANK1):c.856C>T (p.Arg286Ter) rs2150651762
NM_000037.4(ANK1):c.931A>G (p.Met311Val) rs2150644664
NM_000037.4(ANK1):c.935C>A (p.Ala312Glu) rs1036457270
NM_000121.4(EPOR):c.499C>T (p.Leu167Phe)
NM_000121.4(EPOR):c.957C>G (p.Pro319=)
NM_000132.4(F8):c.1010-9T>A rs1603435287
NM_000132.4(F8):c.1171C>T (p.Arg391Cys) rs137852364
NM_000132.4(F8):c.1172G>A (p.Arg391His) rs28935499
NM_000132.4(F8):c.1202G>A (p.Trp401Ter) rs2073424782
NM_000132.4(F8):c.1257_1262delinsG (p.Ala420fs) rs2124105898
NM_000132.4(F8):c.1271+1G>A rs1603435260
NM_000132.4(F8):c.1332del (p.Val445fs) rs1375296497
NM_000132.4(F8):c.1430G>T (p.Gly477Val) rs2124105158
NM_000132.4(F8):c.1439T>C (p.Leu480Pro) rs1256548419
NM_000132.4(F8):c.1443+5G>A rs1195283929
NM_000132.4(F8):c.1444-3C>G rs1603435027
NM_000132.4(F8):c.1481T>G (p.Ile494Ser) rs137852413
NM_000132.4(F8):c.1485C>G (p.Tyr495Ter) rs2124099224
NM_000132.4(F8):c.1492G>A (p.Gly498Arg) rs137852414
NM_000132.4(F8):c.1504G>T (p.Val502Phe) rs2073393106
NM_000132.4(F8):c.1538-18G>A rs1482306571
NM_000132.4(F8):c.1652A>G (p.Tyr551Cys) rs2073368605
NM_000132.4(F8):c.1696C>T (p.Leu566Phe) rs2124094420
NM_000132.4(F8):c.1804C>T (p.Arg602Ter) rs137852424
NM_000132.4(F8):c.1825A>C (p.Asn609His) rs2073350730
NM_000132.4(F8):c.1941_1944del (p.Leu650fs) rs2124082382
NM_000132.4(F8):c.2048A>G (p.Tyr683Cys) rs1384374956
NM_000132.4(F8):c.209_212del (p.Leu69_Phe70insTer) rs387906434
NM_000132.4(F8):c.2101A>G (p.Met701Val) rs2073313804
NM_000132.4(F8):c.2118_2119dup (p.Trp707fs) rs2124054281
NM_000132.4(F8):c.2162T>C (p.Met721Thr) rs1314906579
NM_000132.4(F8):c.219C>G (p.Phe73Leu) rs1603436770
NM_000132.4(F8):c.2440C>T (p.Arg814Ter) rs137852437
NM_000132.4(F8):c.2506dup (p.Ser836fs) rs2124053251
NM_000132.4(F8):c.2618G>A (p.Gly873Asp) rs2073195544
NM_000132.4(F8):c.286C>T (p.Gln96Ter) rs2124146053
NM_000132.4(F8):c.2902G>T (p.Glu968Ter) rs782176982
NM_000132.4(F8):c.2945dup (p.Asn982fs) rs387906447
NM_000132.4(F8):c.296T>C (p.Val99Ala) rs137852382
NM_000132.4(F8):c.302A>G (p.Asp101Gly) rs1312347909
NM_000132.4(F8):c.3091_3094del (p.Lys1031fs) rs1375894900
NM_000132.4(F8):c.3637del (p.Ile1213fs) rs387906450
NM_000132.4(F8):c.3746del (p.Leu1249fs) rs2124050272
NM_000132.4(F8):c.377A>G (p.Lys126Arg) rs1603436639
NM_000132.4(F8):c.382T>C (p.Ser128Pro) rs1603436638
NM_000132.4(F8):c.3861_3867del (p.Phe1287fs) rs1603433779
NM_000132.4(F8):c.388+1G>A rs1377354928
NM_000132.4(F8):c.3964del (p.Gln1322fs) rs2073183197
NM_000132.4(F8):c.403G>T (p.Asp135Tyr) rs2073597882
NM_000132.4(F8):c.4328_4331del (p.Lys1443fs) rs387906454
NM_000132.4(F8):c.4379del (p.Asn1460fs) rs387906455
NM_000132.4(F8):c.437_438del (p.Lys146fs) rs2124141140
NM_000132.4(F8):c.4636C>T (p.Gln1546Ter) rs2073177296
NM_000132.4(F8):c.4758G>A (p.Trp1586Ter) rs2124048012
NM_000132.4(F8):c.4870G>T (p.Glu1624Ter) rs1603433733
NM_000132.4(F8):c.4936del (p.Ala1646fs) rs1603433729
NM_000132.4(F8):c.505G>A (p.Asp169Asn) rs2073596825
NM_000132.4(F8):c.5093T>C (p.Ile1698Thr) rs2073173387
NM_000132.4(F8):c.5143C>T (p.Arg1715Ter) rs137852439
NM_000132.4(F8):c.5219+1G>A rs1280131174
NM_000132.4(F8):c.5219G>T (p.Arg1740Met) rs1444273117
NM_000132.4(F8):c.5301C>A (p.Tyr1767Ter) rs782763245
NM_000132.4(F8):c.5308G>A (p.Glu1770Lys) rs2124000594
NM_000132.4(F8):c.5335G>A (p.Gly1779Arg) rs1168919288
NM_000132.4(F8):c.5379_5381delinsGA (p.Phe1794fs) rs1342455699
NM_000132.4(F8):c.5399G>A (p.Arg1800His) rs137852442
NM_000132.4(F8):c.5422C>T (p.Leu1808Phe) rs137852445
NM_000132.4(F8):c.5449C>T (p.Gln1817Ter) rs2123997982
NM_000132.4(F8):c.5483del (p.Pro1828fs) rs2073030045
NM_000132.4(F8):c.5493C>G (p.Thr1831=) rs1603432997
NM_000132.4(F8):c.5501dup (p.Tyr1834Ter) rs2123997870
NM_000132.4(F8):c.5527G>A (p.Ala1843Thr) rs1603432996
NM_000132.4(F8):c.5576A>T (p.Asp1859Val) rs2123997719
NM_000132.4(F8):c.55A>C (p.Ser19Arg) rs2124174458
NM_000132.4(F8):c.5813A>G (p.His1938Arg) rs1603432981
NM_000132.4(F8):c.5815G>C (p.Ala1939Pro) rs1603432979
NM_000132.4(F8):c.5822A>G (p.Asn1941Ser) rs28933682
NM_000132.4(F8):c.5875A>T (p.Ile1959Phe) rs1411617809
NM_000132.4(F8):c.5914_5915del (p.Ile1972fs) rs1216878586
NM_000132.4(F8):c.592T>G (p.Cys198Gly) rs137852475
NM_000132.4(F8):c.5953C>T (p.Arg1985Ter) rs137852452
NM_000132.4(F8):c.5999-2A>C rs2123994187
NM_000132.4(F8):c.5999G>T (p.Gly2000Val) rs1603432913
NM_000132.4(F8):c.601G>A (p.Gly201Arg) rs1229954426
NM_000132.4(F8):c.6020del (p.Met2007fs) rs2123994155
NM_000132.4(F8):c.6043T>C (p.Trp2015Arg) rs2073013277
NM_000132.4(F8):c.6046C>T (p.Arg2016Trp) rs137852453
NM_000132.4(F8):c.606T>G (p.Ser202Arg) rs1603436217
NM_000132.4(F8):c.6104T>C (p.Val2035Ala) rs1603432906
NM_000132.4(F8):c.6118T>G (p.Cys2040Gly) rs2123993603
NM_000132.4(F8):c.6273G>A (p.Lys2091=) rs2148584915
NM_000132.4(F8):c.6296T>A (p.Ile2099Asn) rs1603432784
NM_000132.4(F8):c.6346T>C (p.Tyr2116His) rs781870586
NM_000132.4(F8):c.6403C>T (p.Arg2135Ter) rs137852356
NM_000132.4(F8):c.640T>G (p.Phe214Val) rs2073563995
NM_000132.4(F8):c.6496C>T (p.Arg2166Ter) rs137852357
NM_000132.4(F8):c.650T>C (p.Leu217Pro) rs2124134359
NM_000132.4(F8):c.650T>G (p.Leu217Arg) rs2124134359
NM_000132.4(F8):c.6523_6525del (p.Tyr2175del) rs2072706332
NM_000132.4(F8):c.6545G>A (p.Arg2182His) rs137852466
NM_000132.4(F8):c.6547A>G (p.Met2183Val) rs781797728
NM_000132.4(F8):c.6550G>C (p.Glu2184Gln) rs2148568062
NM_000132.4(F8):c.6593G>A (p.Gly2198Glu) rs2148567338
NM_000132.4(F8):c.65G>A (p.Arg22Lys) rs2073765087
NM_000132.4(F8):c.6638C>T (p.Ser2213Phe) rs1603431511
NM_000132.4(F8):c.665A>C (p.Asp222Ala) rs137852396
NM_000132.4(F8):c.6683G>A (p.Arg2228Gln) rs137852358
NM_000132.4(F8):c.6697G>T (p.Gly2233Trp) rs2072692745
NM_000132.4(F8):c.6719C>T (p.Pro2240Leu) rs1174359623
NM_000132.4(F8):c.6929C>T (p.Thr2310Ile) rs373079141
NM_000132.4(F8):c.6956dup (p.Leu2320fs) rs1475873048
NM_000132.4(F8):c.6959T>G (p.Leu2320Ter) rs2148555597
NM_000132.4(F8):c.6975del (p.Arg2326fs) rs2148555575
NM_000132.4(F8):c.6976C>T (p.Arg2326Ter) rs137852354
NM_000132.4(F8):c.6995G>A (p.Trp2332Ter) rs2072484506
NM_000132.4(F8):c.7021G>A (p.Glu2341Lys) rs2072484280
NM_000132.4(F8):c.74A>G (p.Tyr25Cys) rs2124174443
NM_000132.4(F8):c.755C>T (p.Thr252Ile) rs1464962436
NM_000132.4(F8):c.760A>G (p.Asn254Asp) rs2124131338
NM_000132.4(F8):c.787+5G>C rs1378662017
NM_000132.4(F8):c.797G>A (p.Gly266Glu) rs137852398
NM_000132.4(F8):c.83_87del (p.Ala28fs) rs1603437863
NM_000132.4(F8):c.853G>A (p.Val285Met) rs2073444412
NM_000132.4(F8):c.89A>G (p.Glu30Gly) rs137852378
NM_000132.4(F8):c.940A>C (p.Thr314Pro) rs137852406
NM_000132.4(F8):c.944C>G (p.Ala315Gly) rs2124109874
NM_000132.4(F8):c.986G>A (p.Cys329Tyr) rs137852409
NM_000132.4(F8):c.992T>C (p.Ile331Thr) rs2073442480
NM_000175.5(GPI):c.1040G>A (p.Arg347His) rs137853583
NM_000175.5(GPI):c.1063-13G>C
NM_000175.5(GPI):c.1143G>C (p.Gly381=) rs1214297048
NM_000175.5(GPI):c.1144G>T (p.Glu382Ter) rs2074944986
NM_000175.5(GPI):c.1356G>C (p.Ala452=) rs34604585
NM_000175.5(GPI):c.1366C>G (p.Pro456Ala)
NM_000175.5(GPI):c.16C>T (p.Arg6Trp)
NM_000175.5(GPI):c.241C>T (p.Arg81Trp)
NM_000175.5(GPI):c.487-14A>G
NM_000175.5(GPI):c.603C>G (p.Pro201=) rs1062480
NM_000175.5(GPI):c.751-5del rs375313737
NM_000175.5(GPI):c.751-5dup rs375313737
NM_000289.6(PFKM):c.1043T>C (p.Leu348Pro) rs1203659685
NM_000289.6(PFKM):c.1063-6C>A rs371033104
NM_000289.6(PFKM):c.1295G>A (p.Arg432Gln) rs374824469
NM_000289.6(PFKM):c.1338_1339delinsAA (p.Gln447Lys) rs1555206566
NM_000289.6(PFKM):c.1413-58C>A rs78496902
NM_000289.6(PFKM):c.150T>C (p.Phe50=)
NM_000289.6(PFKM):c.1771G>A (p.Asp591Asn)
NM_000289.6(PFKM):c.2003del (p.Pro668fs) rs767095759
NM_000289.6(PFKM):c.2219A>G (p.Gln740Arg) rs1950977797
NM_000289.6(PFKM):c.550C>T (p.Arg184Trp)
NM_000355.4(TCN2):c.581-8A>G rs7290898
NM_000365.6(TPI1):c.-29C>G rs181882616
NM_000365.6(TPI1):c.383T>C (p.Ile128Thr) rs199881593
NM_000365.6(TPI1):c.457+7C>G
NM_000476.3(AK1):c.153G>A (p.Ser51=)
NM_000476.3(AK1):c.238A>G (p.Met80Val)
NM_000476.3(AK1):c.516+11C>A rs115263629
NM_000476.3(AK1):c.516+11C>T rs115263629
NM_000476.3(AK1):c.522C>T (p.Asn174=) rs150064330
NM_000476.3(AK1):c.530G>T (p.Gly177Val) rs201453879
NM_000476.3(AK1):c.55T>G (p.Ser19Ala)
NM_000476.3(AK1):c.8-321C>T
NM_000559.2(HBG1):c.119A>G (p.Gln40Arg) rs35977759
NM_000559.2(HBG1):c.122G>A (p.Arg41Lys) rs33974602
NM_000559.3(HBG1):c.*3T>C rs62755960
NM_000559.3(HBG1):c.*4C>T rs61893083
NM_000559.3(HBG1):c.*5A>C rs1065686
NM_000559.3(HBG1):c.*6C>T rs5009539
NM_000559.3(HBG1):c.14C>G (p.Thr5Arg) rs2133609307
NM_000559.3(HBG1):c.217G>A (p.Gly73Arg) rs34049890
NM_000559.3(HBG1):c.76G>A (p.Gly26Arg) rs35957832
NM_000637.5(GSR):c.227_253dup (p.Ala84_Glu85insGlyLeuAlaSerAlaArgArgAlaAla)
NM_000637.5(GSR):c.512G>T (p.Arg171Leu) rs766106295
NM_000637.5(GSR):c.531G>T (p.Thr177=) rs147119692
NM_000637.5(GSR):c.698G>A (p.Arg233His) rs750234827
NM_000791.4(DHFR):c.-406CGCTGCAGC[1] rs758595508
NM_000791.4(DHFR):c.-418GGCCGCTGC[1] rs758960105
NM_000791.4(DHFR):c.-437GGGGCGCTG[3] rs60484572
NM_000791.4(DHFR):c.-442_-434del rs3045983
NM_001002010.5(NT5C3A):c.129C>A (p.Ile43=)
NM_001002010.5(NT5C3A):c.139-9060del rs143513903
NM_001002010.5(NT5C3A):c.21G>A (p.Ala7=)
NM_001002010.5(NT5C3A):c.268A>G (p.Arg90Gly)
NM_001002010.5(NT5C3A):c.354+17A>G
NM_001002010.5(NT5C3A):c.670A>C (p.Asn224His) rs2127993476
NM_001002010.5(NT5C3A):c.686A>T (p.Asp229Val) rs1583891936
NM_001114134.2(EPB42):c.1025G>A (p.Gly342Asp) rs116484797
NM_001114134.2(EPB42):c.1345G>C (p.Glu449Gln)
NM_001114134.2(EPB42):c.1619-19C>T
NM_001114134.2(EPB42):c.1887del (p.Leu630fs)
NM_001114134.2(EPB42):c.550-37_550-12dup rs368862301
NM_001114134.2(EPB42):c.872C>T (p.Thr291Met)
NM_001114134.2(EPB42):c.971+8G>A
NM_001114134.2(EPB42):c.971+9C>A
NM_001243177.4(ALDOA):c.1141G>A (p.Glu381Lys)
NM_001243177.4(ALDOA):c.1162-16C>T
NM_001243177.4(ALDOA):c.486+17C>G rs78209292
NM_001243177.4(ALDOA):c.684T>C (p.Tyr228=) rs1596813728
NM_001243177.4(ALDOA):c.925A>G (p.Thr309Ala)
NM_001243177.4(ALDOA):c.966C>T (p.Ile322=)
NM_001250.6(CD40):c.646+27G>T
NM_001322934.2(NFKB2):c.2564del (p.Lys855fs) rs397514331
NM_001375808.2(LPIN2):c.1169-7del rs746626720
NM_001375808.2(LPIN2):c.1169-7dup rs746626720
NM_001375808.2(LPIN2):c.1356A>G (p.Ala452=) rs2144161943
NM_001375808.2(LPIN2):c.151C>T (p.Arg51Trp)
NM_001375808.2(LPIN2):c.1710+16G>A rs2077155215
NM_001375808.2(LPIN2):c.1716A>G (p.Pro572=) rs2077138820
NM_001375808.2(LPIN2):c.1786G>A (p.Gly596Ser)
NM_001375808.2(LPIN2):c.2621G>T (p.Cys874Phe) rs201160155
NM_001375808.2(LPIN2):c.631G>C (p.Glu211Gln)
NM_001375808.2(LPIN2):c.698+20_698+22del rs778249776
NM_001375808.2(LPIN2):c.840A>G (p.Arg280=) rs780138552
NM_001375808.2(LPIN2):c.968C>T (p.Thr323Ile) rs765953887
NM_001376013.1(EPB41):c.1102A>G (p.Met368Val) rs2096603473
NM_001376013.1(EPB41):c.172G>A (p.Gly58Arg)
NM_001376013.1(EPB41):c.1800C>T (p.Asp600=)
NM_001376013.1(EPB41):c.1930A>G (p.Ile644Val)
NM_001376013.1(EPB41):c.2065A>T (p.Lys689Ter) rs2151005632
NM_001376013.1(EPB41):c.2240A>G (p.Lys747Arg)
NM_001376013.1(EPB41):c.2285C>T (p.Thr762Ile)
NM_001376013.1(EPB41):c.2328T>C (p.Ser776=)
NM_001376013.1(EPB41):c.2577C>T (p.Thr859=) rs536178
NM_001376013.1(EPB41):c.263A>G (p.Lys88Arg)
NM_001376013.1(EPB41):c.353T>A (p.Phe118Tyr)
NM_001376013.1(EPB41):c.426C>T (p.Asp142=) rs2149522654
NM_001430.5(EPAS1):c.1035-7C>G rs7557402
NM_001430.5(EPAS1):c.1601C>T (p.Pro534Leu)
NM_001430.5(EPAS1):c.1620C>A (p.Phe540Leu)
NM_001430.5(EPAS1):c.1857G>A (p.Pro619=)
NM_001724.5(BPGM):c.62G>A (p.Arg21His)
NM_001770.6(CD19):c.1198+2T>G rs1596718225
NM_001783.4(CD79A):c.576C>A (p.Asn192Lys)
NM_002439.5(MSH3):c.162_179del (p.Ala57_Ala62del) rs201874762
NM_003200.5(TCF3):c.1806G>A (p.Leu602=) rs1376446279
NM_003200.5(TCF3):c.879CTC[1] (p.Ser295del) rs550914200
NM_003998.4(NFKB1):c.1976C>T (p.Ala659Val) rs969568429
NM_003998.4(NFKB1):c.2227+18C>T rs375361337
NM_003998.4(NFKB1):c.2460G>C (p.Leu820=) rs4648109
NM_005050.4(ABCD4):c.1049C>G (p.Thr350Arg) rs35073715
NM_005334.3(HCFC1):c.4638C>T (p.Ala1546=)
NM_006060.6(IKZF1):c.825G>A (p.Lys275=) rs1064796324
NM_006060.6(IKZF1):c.863T>G (p.Leu288Arg)
NM_006947.4(SRP72):c.21G>T (p.Gly7=) rs12513091
NM_006996.3(SLC19A2):c.30GGC[5] (p.Ala16del)
NM_012092.4(ICOS):c.395-19A>G
NM_013314.4(BLNK):c.1020C>T (p.Gly340=) rs375535673
NM_014915.3(ANKRD26):c.1462+17C>A rs11015496
NM_018368.4(LMBRD1):c.981-10dup rs202207965
NM_018389.5(SLC35C1):c.847G>A (p.Val283Met)
NM_019594.4(LRRC8A):c.-2C>T
NM_020070.4(IGLL1):c.284C>A (p.Thr95Lys) rs116041505
NM_020070.4(IGLL1):c.300C>T (p.Ser100=) rs115303391
NM_020070.4(IGLL1):c.485T>A (p.Met162Lys) rs111903752
NM_020070.4(IGLL1):c.97G>A (p.Val33Met) rs116760479
NM_030943.4(AMN):c.1343_1348dup (p.Gly448_Ala449dup) rs36040113
NM_030943.4(AMN):c.44-7_44-5del rs774101952
NM_030943.4(AMN):c.514-34G>C rs144077391
NM_032043.3(BRIP1):c.1331G>C (p.Ser444Thr) rs1603342140
NM_138477.4(CDAN1):c.1384G>A (p.Val462Met)
NM_138477.4(CDAN1):c.1507C>T (p.Arg503Trp) rs748862062
NM_138477.4(CDAN1):c.1596dup (p.Met533fs) rs778822407
NM_138477.4(CDAN1):c.169del (p.Phe56_Leu57insTer)
NM_138477.4(CDAN1):c.1740-20C>T
NM_138477.4(CDAN1):c.1740-6_1740-4del
NM_138477.4(CDAN1):c.2174+11C>T rs749464836
NM_138477.4(CDAN1):c.2186T>C (p.Leu729Ser)
NM_138477.4(CDAN1):c.2229G>C (p.Leu743=)
NM_138477.4(CDAN1):c.2353-18C>A
NM_138477.4(CDAN1):c.2590C>T (p.Arg864Trp) rs746216798
NM_138477.4(CDAN1):c.2650A>C (p.Thr884Pro)
NM_138477.4(CDAN1):c.278_279delinsAT (p.Ser93Asn) rs2140513573
NM_138477.4(CDAN1):c.2804A>G (p.Glu935Gly)
NM_138477.4(CDAN1):c.2833G>T (p.Val945Leu) rs756449578
NM_138477.4(CDAN1):c.3097-26_3097-20del
NM_138477.4(CDAN1):c.3135C>T (p.Asp1045=) rs146289653
NM_138477.4(CDAN1):c.313G>A (p.Glu105Lys)
NM_138477.4(CDAN1):c.3189G>A (p.Thr1063=)
NM_138477.4(CDAN1):c.3299C>T (p.Pro1100Leu)
NM_138477.4(CDAN1):c.375G>A (p.Pro125=)
NM_138477.4(CDAN1):c.559G>A (p.Gly187Ser)
NM_138477.4(CDAN1):c.639C>G (p.Thr213=)
NM_138477.4(CDAN1):c.688G>A (p.Ala230Thr)
NM_138477.4(CDAN1):c.804C>A (p.Pro268=)
NM_138477.4(CDAN1):c.848C>G (p.Thr283Arg) rs1168958842
NM_182972.3(IRF2BP2):c.-4G>C
NM_182972.3(IRF2BP2):c.281AGC[6] (p.Gln98dup) rs371994015
NM_182972.3(IRF2BP2):c.928C>T (p.Leu310=) rs1672238574

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